CleftGeneDB-Search

Gene: COL4A4

Basic information

Tag	Content
Uniprot ID	P53420; A8MTZ1; Q53RW9; Q53S42; Q53WR1;
Entrez ID	1286
Genbank protein ID	BAA25065.1; BAA04214.1; CAA56943.1; AAY24061.1; CAA76763.1; AAY14670.1;
Genbank nucleotide ID	NM_000092.4; XM_005246281.3;
Ensembl protein ID	ENSP00000379866
Ensembl nucleotide ID	ENSG00000081052
Gene name	Collagen alpha-4(IV) chain
Gene symbol	COL4A4
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	16953426
Functional description	Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen.
Sequence	MWSLHIVLMR CSFRLTKSLA TGPWSLILIL FSVQYVYGSG KKYIGPCGGR DCSVCHCVPE 60 KGSRGPPGPP GPQGPIGPLG APGPIGLSGE KGMRGDRGPP GAAGDKGDKG PTGVPGFPGL 120 DGIPGHPGPP GPRGKPGMSG HNGSRGDPGF PGGRGALGPG GPLGHPGEKG EKGNSVFILG 180 AVKGIQGDRG DPGLPGLPGS WGAGGPAGPT GYPGEPGLVG PPGQPGRPGL KGNPGVGVKG 240 QMGDPGEVGQ QGSPGPTLLV EPPDFCLYKG EKGIKGIPGM VGLPGPPGRK GESGIGAKGE 300 KGIPGFPGPR GDPGSYGSPG FPGLKGELGL VGDPGLFGLI GPKGDPGNRG HPGPPGVLVT 360 PPLPLKGPPG DPGFPGRYGE TGDVGPPGPP GLLGRPGEAC AGMIGPPGPQ GFPGLPGLPG 420 EAGIPGRPDS APGKPGKPGS PGLPGAPGLQ GLPGSSVIYC SVGNPGPQGI KGKVGPPGGR 480 GPKGEKGNEG LCACEPGPMG PPGPPGLPGR QGSKGDLGLP GWLGTKGDPG PPGAEGPPGL 540 PGKHGASGPP GNKGAKGDMV VSRVKGHKGE RGPDGPPGFP GQPGSHGRDG HAGEKGDPGP 600 PGDHEDATPG GKGFPGPLGP PGKAGPVGPP GLGFPGPPGE RGHPGVPGHP GVRGPDGLKG 660 QKGDTISCNV TYPGRHGPPG FDGPPGPKGF PGPQGAPGLS GSDGHKGRPG TPGTAEIPGP 720 PGFRGDMGDP GFGGEKGSSP VGPPGPPGSP GVNGQKGIPG DPAFGHLGPP GKRGLSGVPG 780 IKGPRGDPGC PGAEGPAGIP GFLGLKGPKG REGHAGFPGV PGPPGHSCER GAPGIPGQPG 840 LPGYPGSPGA PGGKGQPGDV GPPGPAGMKG LPGLPGRPGA HGPPGLPGIP GPFGDDGLPG 900 PPGPKGPRGL PGFPGFPGER GKPGAEGCPG AKGEPGEKGM SGLPGDRGLR GAKGAIGPPG 960 DEGEMAIISQ KGTPGEPGPP GDDGFPGERG DKGTPGMQGR RGEPGRYGPP GFHRGEPGEK 1020 GQPGPPGPPG PPGSTGLRGF IGFPGLPGDQ GEPGSPGPPG FSGIDGARGP KGNKGDPASH 1080 FGPPGPKGEP GSPGCPGHFG ASGEQGLPGI QGPRGSPGRP GPPGSSGPPG CPGDHGMPGL 1140 RGQPGEMGDP GPRGLQGDPG IPGPPGIKGP SGSPGLNGLH GLKGQKGTKG ASGLHDVGPP 1200 GPVGIPGLKG ERGDPGSPGI SPPGPRGKKG PPGPPGSSGP PGPAGATGRA PKDIPDPGPP 1260 GDQGPPGPDG PRGAPGPPGL PGSVDLLRGE PGDCGLPGPP GPPGPPGPPG YKGFPGCDGK 1320 DGQKGPVGFP GPQGPHGFPG PPGEKGLPGP PGRKGPTGLP GPRGEPGPPA DVDDCPRIPG 1380 LPGAPGMRGP EGAMGLPGMR GPSGPGCKGE PGLDGRRGVD GVPGSPGPPG RKGDTGEDGY 1440 PGGPGPPGPI GDPGPKGFGP GYLGGFLLVL HSQTDQEPTC PLGMPRLWTG YSLLYLEGQE 1500 KAHNQDLGLA GSCLPVFSTL PFAYCNIHQV CHYAQRNDRS YWLASAAPLP MMPLSEEAIR 1560 PYVSRCAVCE APAQAVAVHS QDQSIPPCPQ TWRSLWIGYS FLMHTGAGDQ GGGQALMSPG 1620 SCLEDFRAAP FLECQGRQGT CHFFANKYSF WLTTVKADLQ FSSAPAPDTL KESQAQRQKI 1680 SRCQVCVKYS

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
5NB1

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Species	Evidence	Details
1:1 ortholog	COL4A4		A0A452G3N1	Capra hircus	Prediction	More>>
1:1 ortholog	COL4A4	1286	P53420	Homo sapiens	Publication	More>>
1:1 ortholog	Col4a4	12829	Q9QZR9	Mus musculus	Prediction	More>>
1:1 ortholog	COL4A4	459986	H2R630	Pan troglodytes	Prediction	More>>
1:1 ortholog	Col4a4		A0A0G2K742	Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
NCI-TCGA novel	p.Trp2Ter	stop gained	-	NC_000002.12:g.227147478C>T	NCI-TCGA
rs1382380215	p.Trp2Cys	missense variant	-	NC_000002.12:g.227147478C>A	gnomAD
rs201403066	p.Ser3Phe	missense variant	-	NC_000002.12:g.227147476G>A	ExAC,TOPMed,gnomAD
rs755957159	p.Ser3Thr	missense variant	-	NC_000002.12:g.227147477A>T	ExAC,gnomAD
NCI-TCGA novel	p.Leu4Pro	missense variant	-	NC_000002.12:g.227147473A>G	NCI-TCGA
rs1212871805	p.His5Asn	missense variant	-	NC_000002.12:g.227147471G>T	gnomAD
rs1441153596	p.His5Arg	missense variant	-	NC_000002.12:g.227147470T>C	gnomAD
RCV000286526	p.Ile6Thr	missense variant	Alport syndrome	NC_000002.12:g.227147467A>G	ClinVar
RCV000248898	p.Ile6Thr	missense variant	-	NC_000002.12:g.227147467A>G	ClinVar
RCV000710833	p.Ile6Thr	missense variant	-	NC_000002.12:g.227147467A>G	ClinVar
rs16823264	p.Ile6Thr	missense variant	-	NC_000002.12:g.227147467A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs16823264	p.Ile6Thr	missense variant	-	NC_000002.12:g.227147467A>G	UniProt,dbSNP
VAR_031622	p.Ile6Thr	missense variant	-	NC_000002.12:g.227147467A>G	UniProt
rs763492958	p.Ile6Leu	missense variant	-	NC_000002.12:g.227147468T>A	ExAC,TOPMed,gnomAD
rs763492958	p.Ile6Val	missense variant	-	NC_000002.12:g.227147468T>C	ExAC,TOPMed,gnomAD
rs1310995837	p.Val7Glu	missense variant	-	NC_000002.12:g.227147464A>T	gnomAD
COSM3578449	p.Met9Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227147457C>T	NCI-TCGA Cosmic
rs775856971	p.Met9Val	missense variant	-	NC_000002.12:g.227147459T>C	ExAC,gnomAD
rs1440047357	p.Met9Lys	missense variant	-	NC_000002.12:g.227147458A>T	TOPMed
rs1284205772	p.Arg10Lys	missense variant	-	NC_000002.12:g.227147455C>T	gnomAD
rs770345405	p.Cys11Phe	missense variant	-	NC_000002.12:g.227147452C>A	ExAC,gnomAD
rs771093210	p.Arg14Ile	missense variant	-	NC_000002.12:g.227147443C>A	NCI-TCGA
rs777010630	p.Arg14Gly	missense variant	-	NC_000002.12:g.227147444T>C	ExAC,TOPMed,gnomAD
rs771093210	p.Arg14Ile	missense variant	-	NC_000002.12:g.227147443C>A	ExAC
RCV000480643	p.Lys17Arg	missense variant	-	NC_000002.12:g.227147434T>C	ClinVar
rs114969026	p.Lys17Arg	missense variant	-	NC_000002.12:g.227147434T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1472124369	p.Ser18Phe	missense variant	-	NC_000002.12:g.227147431G>A	gnomAD
rs1237383434	p.Leu19Trp	missense variant	-	NC_000002.12:g.227147428A>C	gnomAD
NCI-TCGA novel	p.Thr21Arg	missense variant	-	NC_000002.12:g.227147422G>C	NCI-TCGA
COSM4911613	p.Gly22Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227147419C>T	NCI-TCGA Cosmic
rs779795137	p.Gly22Ser	missense variant	-	NC_000002.12:g.227147420C>T	ExAC,TOPMed,gnomAD
rs756127918	p.Pro23Ser	missense variant	-	NC_000002.12:g.227147417G>A	ExAC,gnomAD
rs756127918	p.Pro23Thr	missense variant	-	NC_000002.12:g.227147417G>T	ExAC,gnomAD
rs1284248647	p.Pro23His	missense variant	-	NC_000002.12:g.227147416G>T	gnomAD
RCV000670484	p.Trp24Ter	nonsense	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227147413C>T	ClinVar
rs1201925443	p.Trp24Ter	stop gained	-	NC_000002.12:g.227147413C>T	TOPMed
rs1201925443	p.Trp24Leu	missense variant	-	NC_000002.12:g.227147413C>A	TOPMed
rs370486963	p.Ser25Leu	missense variant	-	NC_000002.12:g.227144556G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu30Arg	missense variant	-	NC_000002.12:g.227144541A>C	NCI-TCGA
rs758174051	p.Leu30Phe	missense variant	-	NC_000002.12:g.227144542G>A	ExAC,TOPMed,gnomAD
rs754455472	p.Phe31Ser	missense variant	-	NC_000002.12:g.227144538A>G	ExAC,gnomAD
rs377568944	p.Ser32Phe	missense variant	-	NC_000002.12:g.227144535G>A	ESP,ExAC,TOPMed,gnomAD
COSM720445	p.Gln34His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227144528T>G	NCI-TCGA Cosmic
rs753355705	p.Gln34Lys	missense variant	-	NC_000002.12:g.227144530G>T	ExAC,TOPMed,gnomAD
rs756672670	p.Tyr35Ter	stop gained	-	NC_000002.12:g.227144525A>C	ExAC,gnomAD
rs1272885382	p.Val36Ile	missense variant	-	NC_000002.12:g.227144524C>T	TOPMed
rs1311865804	p.Val36Ala	missense variant	-	NC_000002.12:g.227144523A>G	gnomAD
rs750707504	p.Tyr37Cys	missense variant	-	NC_000002.12:g.227144520T>C	ExAC,gnomAD
COSM6157233	p.Gly40Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227140234C>A	NCI-TCGA Cosmic
rs370128179	p.Gly40Glu	missense variant	-	NC_000002.12:g.227140234C>T	ESP,ExAC,TOPMed,gnomAD
rs1162611784	p.Lys41Asn	missense variant	-	NC_000002.12:g.227140230C>G	gnomAD
COSM3426158	p.Lys42Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227140228T>G	NCI-TCGA Cosmic
rs924312880	p.Ile44Thr	missense variant	-	NC_000002.12:g.227140222A>G	TOPMed
rs753016038	p.Gly45Arg	missense variant	-	NC_000002.12:g.227140220C>G	ExAC,TOPMed,gnomAD
rs753016038	p.Gly45Cys	missense variant	-	NC_000002.12:g.227140220C>A	ExAC,TOPMed,gnomAD
COSM3578448	p.Pro46Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227140217G>A	NCI-TCGA Cosmic
rs374836502	p.Pro46Thr	missense variant	-	NC_000002.12:g.227140217G>T	ESP,ExAC,TOPMed,gnomAD
COSM6090718	p.Gly48Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227140210C>G	NCI-TCGA Cosmic
COSM3578447	p.Gly49Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227140207C>T	NCI-TCGA Cosmic
COSM6090719	p.Arg50Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227140204C>A	NCI-TCGA Cosmic
COSM4396572	p.Arg50Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227140205T>C	NCI-TCGA Cosmic
rs1261294446	p.Arg50Thr	missense variant	-	NC_000002.12:g.227140204C>G	gnomAD
rs1489514277	p.Asp51His	missense variant	-	NC_000002.12:g.227140202C>G	gnomAD
rs773187959	p.Cys52Phe	missense variant	-	NC_000002.12:g.227140198C>A	ExAC,TOPMed,gnomAD
rs771913348	p.Ser53Cys	missense variant	-	NC_000002.12:g.227140195G>C	ExAC,gnomAD
rs537516406	p.Val54Gly	missense variant	-	NC_000002.12:g.227140192A>C	1000Genomes,ExAC,gnomAD
rs570529667	p.Cys55Phe	missense variant	-	NC_000002.12:g.227140189C>A	1000Genomes,ExAC,gnomAD
rs1317174183	p.Glu60Gln	missense variant	-	NC_000002.12:g.227140175C>G	TOPMed,gnomAD
RCV000625690	p.Arg64Trp	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227140163G>A	ClinVar
rs371326070	p.Arg64Gln	missense variant	-	NC_000002.12:g.227140162C>T	NCI-TCGA
rs200668675	p.Arg64Trp	missense variant	-	NC_000002.12:g.227140163G>A	NCI-TCGA,NCI-TCGA Cosmic
rs371326070	p.Arg64Gln	missense variant	-	NC_000002.12:g.227140162C>T	ESP,ExAC,TOPMed,gnomAD
rs200668675	p.Arg64Trp	missense variant	-	NC_000002.12:g.227140163G>A	ExAC,TOPMed,gnomAD
rs776036994	p.Gly65Ser	missense variant	-	NC_000002.12:g.227121148C>T	ExAC,TOPMed,gnomAD
rs776036994	p.Gly65Cys	missense variant	-	NC_000002.12:g.227121148C>A	ExAC,TOPMed,gnomAD
rs771517961	p.Gly65Val	missense variant	-	NC_000002.12:g.227121147C>A	ExAC,gnomAD
rs1182359031	p.Pro66Leu	missense variant	-	NC_000002.12:g.227121144G>A	TOPMed
rs758822531	p.Pro66Ser	missense variant	-	NC_000002.12:g.227121145G>A	ExAC,TOPMed,gnomAD
rs755183371	p.Pro67Ser	missense variant	-	NC_000002.12:g.227121142G>A	ExAC,gnomAD
rs755183371	p.Pro67Ala	missense variant	-	NC_000002.12:g.227121142G>C	ExAC,gnomAD
rs753903329	p.Gly68Val	missense variant	-	NC_000002.12:g.227121138C>A	ExAC,TOPMed,gnomAD
rs199748684	p.Pro69Thr	missense variant	-	NC_000002.12:g.227121136G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs751497878	p.Pro70Gln	missense variant	-	NC_000002.12:g.227121132G>T	ExAC,gnomAD
rs1233036321	p.Pro70Thr	missense variant	-	NC_000002.12:g.227121133G>T	gnomAD
rs751497878	p.Pro70Leu	missense variant	-	NC_000002.12:g.227121132G>A	ExAC,gnomAD
rs1439965299	p.Pro72Ser	missense variant	-	NC_000002.12:g.227121127G>A	gnomAD
NCI-TCGA novel	p.Gly74Ala	missense variant	-	NC_000002.12:g.227121120C>G	NCI-TCGA
rs1320190484	p.Gly74Asp	missense variant	-	NC_000002.12:g.227121120C>T	-
rs546883881	p.Ile76Val	missense variant	-	NC_000002.12:g.227121115T>C	1000Genomes,TOPMed,gnomAD
rs1334613513	p.Ile76Thr	missense variant	-	NC_000002.12:g.227121114A>G	gnomAD
rs762682812	p.Pro78Thr	missense variant	-	NC_000002.12:g.227121109G>T	ExAC,TOPMed,gnomAD
rs762682812	p.Pro78Ser	missense variant	-	NC_000002.12:g.227121109G>A	ExAC,TOPMed,gnomAD
rs764905079	p.Leu79Met	missense variant	-	NC_000002.12:g.227121106G>T	ExAC,gnomAD
rs764905079	p.Leu79Val	missense variant	-	NC_000002.12:g.227121106G>C	ExAC,gnomAD
rs1329673922	p.Gly80Arg	missense variant	-	NC_000002.12:g.227121103C>T	TOPMed
rs1463746360	p.Gly80Glu	missense variant	-	NC_000002.12:g.227121102C>T	gnomAD
rs747022394	p.Ala81Val	missense variant	-	NC_000002.12:g.227121099G>A	ExAC,TOPMed,gnomAD
rs1371498491	p.Ala81Thr	missense variant	-	NC_000002.12:g.227121100C>T	TOPMed,gnomAD
rs747022394	p.Ala81Asp	missense variant	-	NC_000002.12:g.227121099G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro82Ser	missense variant	-	NC_000002.12:g.227121097G>A	NCI-TCGA
COSM3578446	p.Gly83Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227121093C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly83Ter	frameshift	-	NC_000002.12:g.227121064_227121094TTCCTTTCTCTCCTGAAAGCCCAATGGGTCC>-	NCI-TCGA
NCI-TCGA novel	p.Gly83Val	missense variant	-	NC_000002.12:g.227121093C>A	NCI-TCGA
rs370260682	p.Ile85Thr	missense variant	-	NC_000002.12:g.227121087A>G	ESP
rs776396958	p.Gly86Arg	missense variant	-	NC_000002.12:g.227121085C>T	ExAC,gnomAD
rs1278670559	p.Leu87Ile	missense variant	-	NC_000002.12:g.227121082G>T	TOPMed
rs1236298157	p.Ser88Leu	missense variant	-	NC_000002.12:g.227121078G>A	TOPMed
NCI-TCGA novel	p.Glu90Asp	missense variant	-	NC_000002.12:g.227121071C>A	NCI-TCGA
rs1190123470	p.Met93Thr	missense variant	-	NC_000002.12:g.227121063A>G	gnomAD
RCV000681744	p.Asp96Ter	frameshift	-	NC_000002.12:g.227121059_227121060TC[1]	ClinVar
rs772710366	p.Asp96Asn	missense variant	-	NC_000002.12:g.227121055C>T	ExAC,gnomAD
rs769110804	p.Arg97His	missense variant	-	NC_000002.12:g.227121051C>T	ExAC,TOPMed,gnomAD
rs202096172	p.Arg97Cys	missense variant	-	NC_000002.12:g.227121052G>A	ESP,ExAC,TOPMed,gnomAD
rs780323761	p.Gly98Ser	missense variant	-	NC_000002.12:g.227121049C>T	ExAC,TOPMed,gnomAD
rs1195937907	p.Pro99Ser	missense variant	-	NC_000002.12:g.227121046G>A	TOPMed
rs1284690918	p.Pro99Leu	missense variant	-	NC_000002.12:g.227121045G>A	gnomAD
COSM720446	p.Pro100Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227121043G>A	NCI-TCGA Cosmic
rs1312002999	p.Ala102Val	missense variant	-	NC_000002.12:g.227121036G>A	gnomAD
rs1353334452	p.Ala102Thr	missense variant	-	NC_000002.12:g.227121037C>T	gnomAD
rs1400862810	p.Ala103Ser	missense variant	-	NC_000002.12:g.227121034C>A	gnomAD
rs1434359218	p.Asp105Asn	missense variant	-	NC_000002.12:g.227121028C>T	TOPMed
rs1362665820	p.Lys106Arg	missense variant	-	NC_000002.12:g.227121024T>C	gnomAD
rs375164188	p.Gly107Glu	missense variant	-	NC_000002.12:g.227121021C>T	ESP
NCI-TCGA novel	p.Gly107Val	missense variant	-	NC_000002.12:g.227121021C>A	NCI-TCGA
rs750519151	p.Lys109Arg	missense variant	-	NC_000002.12:g.227121015T>C	ExAC
rs1370340334	p.Gly110Ala	missense variant	-	NC_000002.12:g.227119938C>G	gnomAD
rs753687104	p.Pro111Ser	missense variant	-	NC_000002.12:g.227119936G>A	ExAC,gnomAD
rs1449679821	p.Thr112Ser	missense variant	-	NC_000002.12:g.227119932G>C	TOPMed,gnomAD
rs1449679821	p.Thr112Ile	missense variant	-	NC_000002.12:g.227119932G>A	TOPMed,gnomAD
rs766085522	p.Gly113Asp	missense variant	-	NC_000002.12:g.227119929C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val114Gly	missense variant	-	NC_000002.12:g.227119926A>C	NCI-TCGA
rs1298004547	p.Val114Phe	missense variant	-	NC_000002.12:g.227119927C>A	gnomAD
rs1449204399	p.Pro115Ser	missense variant	-	NC_000002.12:g.227119924G>A	gnomAD
RCV000666465	p.Gly116Glu	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227119920C>T	ClinVar
rs1553696235	p.Gly116Glu	missense variant	Hematuria, benign familial (BFH)	NC_000002.12:g.227119920C>T	UniProt,dbSNP
VAR_031623	p.Gly116Glu	missense variant	Hematuria, benign familial (BFH)	NC_000002.12:g.227119920C>T	UniProt
rs1553696235	p.Gly116Glu	missense variant	-	NC_000002.12:g.227119920C>T	-
rs1175135285	p.Pro118Ser	missense variant	-	NC_000002.12:g.227119915G>A	TOPMed,gnomAD
rs750148143	p.Asp121Asn	missense variant	-	NC_000002.12:g.227119906C>T	ExAC,gnomAD
NCI-TCGA novel	p.Gly122Cys	missense variant	-	NC_000002.12:g.227119903C>A	NCI-TCGA
rs1158707020	p.Gly122Ser	missense variant	-	NC_000002.12:g.227119903C>T	gnomAD
rs1420850914	p.Ile123Val	missense variant	-	NC_000002.12:g.227119900T>C	gnomAD
rs1248327412	p.Pro124Ser	missense variant	-	NC_000002.12:g.227119897G>A	TOPMed,gnomAD
rs1484937864	p.His126Tyr	missense variant	-	NC_000002.12:g.227118758G>A	TOPMed,gnomAD
rs779972153	p.Pro127Arg	missense variant	-	NC_000002.12:g.227118754G>C	ExAC,TOPMed,gnomAD
rs1246194968	p.Gly128Glu	missense variant	-	NC_000002.12:g.227118751C>T	TOPMed,gnomAD
rs750094664	p.Pro129Arg	missense variant	-	NC_000002.12:g.227118748G>C	ExAC,TOPMed,gnomAD
rs1037499264	p.Pro130Ala	missense variant	-	NC_000002.12:g.227118746G>C	TOPMed,gnomAD
rs1037499264	p.Pro130Ser	missense variant	-	NC_000002.12:g.227118746G>A	TOPMed,gnomAD
rs565906863	p.Lys135Asn	missense variant	-	NC_000002.12:g.227118729T>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Pro136Leu	missense variant	-	NC_000002.12:g.227118727G>A	NCI-TCGA
RCV000666252	p.Gly137Asp	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227118724C>T	ClinVar
rs1383488518	p.Gly137Ser	missense variant	-	NC_000002.12:g.227118725C>T	gnomAD
rs377511303	p.Gly137Asp	missense variant	-	NC_000002.12:g.227118724C>T	ESP,gnomAD
rs751085711	p.Ser139Asn	missense variant	-	NC_000002.12:g.227118718C>T	ExAC,gnomAD
rs764467972	p.Gly140Ser	missense variant	-	NC_000002.12:g.227118716C>T	ExAC,gnomAD
rs763477153	p.Gly140Asp	missense variant	-	NC_000002.12:g.227118715C>T	ExAC,gnomAD
rs1474749958	p.Asn142Ser	missense variant	-	NC_000002.12:g.227118709T>C	TOPMed,gnomAD
COSM3909735	p.Gly143Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227118707C>T	NCI-TCGA Cosmic
RCV000673705	p.Gly143Val	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227118706C>A	ClinVar
rs1553695389	p.Gly143Val	missense variant	-	NC_000002.12:g.227118706C>A	-
NCI-TCGA novel	p.Ser144Ter	stop gained	-	NC_000002.12:g.227118703G>T	NCI-TCGA
rs1423990568	p.Ser144Ala	missense variant	-	NC_000002.12:g.227118704A>C	gnomAD
rs368884003	p.Ser144Leu	missense variant	-	NC_000002.12:g.227118703G>A	ESP,ExAC,TOPMed,gnomAD
rs1426912912	p.Arg145Lys	missense variant	-	NC_000002.12:g.227118700C>T	gnomAD
RCV000344933	p.Gly146Ser	missense variant	Alport syndrome	NC_000002.12:g.227118698C>T	ClinVar
rs886055729	p.Gly146Ser	missense variant	-	NC_000002.12:g.227118698C>T	-
rs1033767488	p.Pro148Arg	missense variant	-	NC_000002.12:g.227118691G>C	gnomAD
rs1033767488	p.Pro148Leu	missense variant	-	NC_000002.12:g.227118691G>A	gnomAD
RCV000408863	p.Gly149Val	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227118688C>A	ClinVar
rs374815903	p.Gly149Val	missense variant	-	NC_000002.12:g.227118688C>A	ESP,ExAC,TOPMed,gnomAD
rs374815903	p.Gly149Glu	missense variant	-	NC_000002.12:g.227118688C>T	ESP,ExAC,TOPMed,gnomAD
COSM1017306	p.Pro151Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227118683G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly152Glu	missense variant	-	NC_000002.12:g.227118679C>T	NCI-TCGA
rs773360119	p.Gly153Glu	missense variant	-	NC_000002.12:g.227118676C>T	ExAC,gnomAD
rs773360119	p.Gly153Val	missense variant	-	NC_000002.12:g.227118676C>A	ExAC,gnomAD
rs772093309	p.Arg154Gly	missense variant	-	NC_000002.12:g.227118674T>C	ExAC,gnomAD
rs369520774	p.Arg154Ser	missense variant	-	NC_000002.12:g.227118672T>A	ESP
COSM5861920	p.Gly155Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227118670C>T	NCI-TCGA Cosmic
rs1319037678	p.Gly155Ala	missense variant	-	NC_000002.12:g.227118670C>G	gnomAD
rs1229178343	p.Leu157Val	missense variant	-	NC_000002.12:g.227118665G>C	gnomAD
RCV000735656	p.Pro159Ser	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227118659G>A	ClinVar
rs760873029	p.Pro159Ser	missense variant	-	NC_000002.12:g.227118659G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly160Glu	missense variant	-	NC_000002.12:g.227118655C>T	NCI-TCGA
rs745672795	p.Gly161Asp	missense variant	-	NC_000002.12:g.227118652C>T	ExAC,gnomAD
rs755961411	p.Gly161Arg	missense variant	-	NC_000002.12:g.227118653C>G	ExAC,TOPMed,gnomAD
rs745672795	p.Gly161Val	missense variant	-	NC_000002.12:g.227118652C>A	ExAC,gnomAD
RCV000517766	p.Gly161Val	missense variant	-	NC_000002.12:g.227118652C>A	ClinVar
rs901711159	p.Pro162Leu	missense variant	-	NC_000002.12:g.227118649G>A	TOPMed,gnomAD
rs901711159	p.Pro162His	missense variant	-	NC_000002.12:g.227118649G>T	TOPMed,gnomAD
COSM3578445	p.Gly164Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227114696C>T	NCI-TCGA Cosmic
COSM1482819	p.His165Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227114693G>A	NCI-TCGA Cosmic
rs1395435419	p.His165Leu	missense variant	-	NC_000002.12:g.227114692T>A	gnomAD
NCI-TCGA novel	p.Pro166Thr	missense variant	-	NC_000002.12:g.227114690G>T	NCI-TCGA
rs545808060	p.Lys169Asn	missense variant	-	NC_000002.12:g.227114679C>G	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Gly170Arg	missense variant	-	NC_000002.12:g.227114678C>T	NCI-TCGA
NCI-TCGA novel	p.Gly170Glu	missense variant	-	NC_000002.12:g.227114677C>T	NCI-TCGA
rs1029503113	p.Glu171Ter	stop gained	-	NC_000002.12:g.227114675C>A	gnomAD
COSM4403575	p.Gly173Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227114668C>T	NCI-TCGA Cosmic
rs1440886472	p.Gly173Arg	missense variant	-	NC_000002.12:g.227114669C>T	NCI-TCGA
rs1440886472	p.Gly173Arg	missense variant	-	NC_000002.12:g.227114669C>T	gnomAD
rs781063130	p.Val176Glu	missense variant	-	NC_000002.12:g.227114659A>T	ExAC,gnomAD
rs745619587	p.Val176Met	missense variant	-	NC_000002.12:g.227114660C>T	ExAC,gnomAD
rs745619587	p.Val176Leu	missense variant	-	NC_000002.12:g.227114660C>G	ExAC,gnomAD
COSM1017305	p.Phe177Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227114656A>G	NCI-TCGA Cosmic
rs1421795484	p.Ile178Leu	missense variant	-	NC_000002.12:g.227114654T>G	TOPMed
rs770685084	p.Gly180Asp	missense variant	-	NC_000002.12:g.227114647C>T	ExAC,gnomAD
RCV000289981	p.Ala181Ser	missense variant	Alport syndrome	NC_000002.12:g.227114645C>A	ClinVar
rs200707549	p.Ala181Ser	missense variant	-	NC_000002.12:g.227114645C>A	ExAC,TOPMed,gnomAD
rs377231912	p.Val182Ile	missense variant	-	NC_000002.12:g.227114642C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs377231912	p.Val182Ile	missense variant	-	NC_000002.12:g.227114642C>T	NCI-TCGA
rs1277626593	p.Lys183Arg	missense variant	-	NC_000002.12:g.227114638T>C	gnomAD
NCI-TCGA novel	p.Gly184Asp	missense variant	-	NC_000002.12:g.227114635C>T	NCI-TCGA
rs1232924793	p.Gly184Ser	missense variant	-	NC_000002.12:g.227114636C>T	gnomAD
rs1351388457	p.Gln186Ter	stop gained	-	NC_000002.12:g.227114630G>A	gnomAD
rs1464679930	p.Gly187Val	missense variant	-	NC_000002.12:g.227111712C>A	TOPMed
rs146817833	p.Asp188Gly	missense variant	-	NC_000002.12:g.227111709T>C	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Arg189Lys	missense variant	-	NC_000002.12:g.227111706C>T	NCI-TCGA
rs773010701	p.Gly190Trp	missense variant	-	NC_000002.12:g.227111704C>A	ExAC,TOPMed,gnomAD
rs773010701	p.Gly190Arg	missense variant	-	NC_000002.12:g.227111704C>T	ExAC,TOPMed,gnomAD
rs774055390	p.Pro192Ala	missense variant	-	NC_000002.12:g.227111698G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly193Ter	stop gained	-	NC_000002.12:g.227111695C>A	NCI-TCGA
NCI-TCGA novel	p.Pro195Ser	missense variant	-	NC_000002.12:g.227111689G>A	NCI-TCGA
rs780541925	p.Pro198Leu	missense variant	-	NC_000002.12:g.227111679G>A	ExAC,gnomAD
rs1039244540	p.Pro198Ser	missense variant	-	NC_000002.12:g.227111680G>A	TOPMed,gnomAD
RCV000735719	p.Gly199Val	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227109285C>A	ClinVar
rs750345987	p.Gly199Arg	missense variant	-	NC_000002.12:g.227109286C>T	ExAC,gnomAD
rs750345987	p.Gly199Arg	missense variant	-	NC_000002.12:g.227109286C>G	ExAC,gnomAD
rs1218583485	p.Ser200Phe	missense variant	-	NC_000002.12:g.227109282G>A	gnomAD
rs761528354	p.Trp201Ter	stop gained	-	NC_000002.12:g.227109279C>T	ExAC,gnomAD
rs761528354	p.Trp201Ser	missense variant	-	NC_000002.12:g.227109279C>G	ExAC,gnomAD
rs751385680	p.Gly202Cys	missense variant	-	NC_000002.12:g.227109277C>A	ExAC,TOPMed,gnomAD
rs751385680	p.Gly202Arg	missense variant	-	NC_000002.12:g.227109277C>G	ExAC,TOPMed,gnomAD
rs1357694989	p.Gly202Asp	missense variant	-	NC_000002.12:g.227109276C>T	gnomAD
rs537557592	p.Pro206Gln	missense variant	-	NC_000002.12:g.227109264G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1304616090	p.Pro206Ser	missense variant	-	NC_000002.12:g.227109265G>A	TOPMed
rs537557592	p.Pro206Leu	missense variant	-	NC_000002.12:g.227109264G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs369698515	p.Ala207Val	missense variant	-	NC_000002.12:g.227109261G>A	ESP,ExAC,TOPMed,gnomAD
rs759179373	p.Pro209Thr	missense variant	-	NC_000002.12:g.227109256G>T	ExAC,gnomAD
rs759179373	p.Pro209Ala	missense variant	-	NC_000002.12:g.227109256G>C	ExAC,gnomAD
rs777222455	p.Thr210Pro	missense variant	-	NC_000002.12:g.227109253T>G	ExAC,gnomAD
rs771573074	p.Gly211Val	missense variant	-	NC_000002.12:g.227109249C>A	ExAC
rs747325360	p.Tyr212Asp	missense variant	-	NC_000002.12:g.227109247A>C	ExAC
rs777975866	p.Tyr212Phe	missense variant	-	NC_000002.12:g.227109246T>A	ExAC,gnomAD
NCI-TCGA novel	p.Pro213His	missense variant	-	NC_000002.12:g.227109243G>T	NCI-TCGA
rs1419670867	p.Glu215Lys	missense variant	-	NC_000002.12:g.227109238C>T	gnomAD
rs772522685	p.Leu218Val	missense variant	-	NC_000002.12:g.227109229A>C	ExAC,gnomAD
rs1423413485	p.Val219Gly	missense variant	-	NC_000002.12:g.227109225A>C	gnomAD
NCI-TCGA novel	p.Gly220Ala	missense variant	-	NC_000002.12:g.227108867C>G	NCI-TCGA
rs760317280	p.Gly220Glu	missense variant	-	NC_000002.12:g.227108867C>T	ExAC,TOPMed,gnomAD
rs1261138757	p.Pro221Ala	missense variant	-	NC_000002.12:g.227108865G>C	TOPMed
rs1313627769	p.Pro221His	missense variant	-	NC_000002.12:g.227108864G>T	gnomAD
rs1261138757	p.Pro221Ser	missense variant	-	NC_000002.12:g.227108865G>A	TOPMed
RCV000625685	p.Pro222Leu	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227108861G>A	ClinVar
rs773533313	p.Pro222Leu	missense variant	-	NC_000002.12:g.227108861G>A	ExAC,TOPMed,gnomAD
rs773533313	p.Pro222Leu	missense variant	-	NC_000002.12:g.227108861G>A	NCI-TCGA
rs370606294	p.Pro225Ser	missense variant	-	NC_000002.12:g.227108853G>A	ESP,ExAC,TOPMed,gnomAD
rs370606294	p.Pro225Thr	missense variant	-	NC_000002.12:g.227108853G>T	ESP,ExAC,TOPMed,gnomAD
RCV000669739	p.Pro225Ter	frameshift	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227108846_227108853del	ClinVar
RCV000627656	p.Gly226Ter	frameshift	-	NC_000002.12:g.227108851dup	ClinVar
rs774801022	p.Arg227Cys	missense variant	-	NC_000002.12:g.227108847G>A	NCI-TCGA
rs368248078	p.Arg227His	missense variant	-	NC_000002.12:g.227108846C>T	ESP,ExAC,TOPMed,gnomAD
rs368248078	p.Arg227Pro	missense variant	-	NC_000002.12:g.227108846C>G	ESP,ExAC,TOPMed,gnomAD
rs774801022	p.Arg227Cys	missense variant	-	NC_000002.12:g.227108847G>A	ExAC,gnomAD
RCV000518682	p.Arg227His	missense variant	-	NC_000002.12:g.227108846C>T	ClinVar
rs1037232355	p.Pro228Thr	missense variant	-	NC_000002.12:g.227108844G>T	TOPMed
rs749481247	p.Pro228Gln	missense variant	-	NC_000002.12:g.227108843G>T	ExAC,gnomAD
rs866282147	p.Gly232Glu	missense variant	-	NC_000002.12:g.227108621C>T	gnomAD
rs1447568992	p.Pro234Leu	missense variant	-	NC_000002.12:g.227108615G>A	gnomAD
rs767862394	p.Gly235Ser	missense variant	-	NC_000002.12:g.227108613C>T	ExAC,TOPMed,gnomAD
rs767862394	p.Gly235Ser	missense variant	-	NC_000002.12:g.227108613C>T	NCI-TCGA
rs762358388	p.Val236Met	missense variant	-	NC_000002.12:g.227108610C>T	NCI-TCGA
NCI-TCGA novel	p.Val236GlnPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.227108610_227108611insTGTCCTTTTG	NCI-TCGA
rs762358388	p.Val236Met	missense variant	-	NC_000002.12:g.227108610C>T	ExAC,TOPMed,gnomAD
rs1443756298	p.Val236Ala	missense variant	-	NC_000002.12:g.227108609A>G	TOPMed,gnomAD
rs376458953	p.Val238Ala	missense variant	-	NC_000002.12:g.227108603A>G	ESP,ExAC,TOPMed,gnomAD
RCV000785885	p.Gly240Glu	missense variant	Benign familial hematuria (BFH)	NC_000002.12:g.227108597C>T	ClinVar
rs374740993	p.Gln241Lys	missense variant	-	NC_000002.12:g.227108595G>T	ESP,ExAC,TOPMed,gnomAD
rs201673987	p.Gln241His	missense variant	-	NC_000002.12:g.227108593T>G	ESP,ExAC,TOPMed,gnomAD
rs1485925927	p.Met242Thr	missense variant	-	NC_000002.12:g.227108591A>G	TOPMed
rs1046865969	p.Met242Val	missense variant	-	NC_000002.12:g.227108592T>C	TOPMed
NCI-TCGA novel	p.Asp244Asn	missense variant	-	NC_000002.12:g.227108586C>T	NCI-TCGA
rs770011392	p.Pro245Leu	missense variant	-	NC_000002.12:g.227108582G>A	ExAC,gnomAD
rs770011392	p.Pro245Leu	missense variant	-	NC_000002.12:g.227108582G>A	NCI-TCGA,NCI-TCGA Cosmic
RCV000710860	p.Gly246Asp	missense variant	-	NC_000002.12:g.227104051C>T	ClinVar
rs754031227	p.Val248Ala	missense variant	-	NC_000002.12:g.227104045A>G	ExAC,TOPMed
NCI-TCGA novel	p.Gly249Cys	missense variant	-	NC_000002.12:g.227104043C>A	NCI-TCGA
NCI-TCGA novel	p.Gly249Val	missense variant	-	NC_000002.12:g.227104042C>A	NCI-TCGA
NCI-TCGA novel	p.Gly252Cys	missense variant	-	NC_000002.12:g.227104034C>A	NCI-TCGA
rs760795817	p.Gly252Val	missense variant	-	NC_000002.12:g.227104033C>A	ExAC,gnomAD
rs773445256	p.Pro256Thr	missense variant	-	NC_000002.12:g.227104022G>T	ExAC,TOPMed,gnomAD
rs773445256	p.Pro256Ser	missense variant	-	NC_000002.12:g.227104022G>A	ExAC,TOPMed,gnomAD
rs772327384	p.Thr257Pro	missense variant	-	NC_000002.12:g.227104019T>G	ExAC,gnomAD
rs1374748296	p.Val260Ala	missense variant	-	NC_000002.12:g.227104009A>G	TOPMed
rs775358063	p.Val260Ile	missense variant	-	NC_000002.12:g.227104010C>T	ExAC,TOPMed,gnomAD
rs1431345926	p.Glu261Lys	missense variant	-	NC_000002.12:g.227104007C>T	TOPMed,gnomAD
rs1332780688	p.Pro262Ala	missense variant	-	NC_000002.12:g.227104004G>C	TOPMed
rs369108674	p.Pro263Arg	missense variant	-	NC_000002.12:g.227104000G>C	ESP,ExAC,TOPMed,gnomAD
rs780832023	p.Asp264Glu	missense variant	-	NC_000002.12:g.227103996G>T	ExAC,gnomAD
NCI-TCGA novel	p.Phe265Val	missense variant	-	NC_000002.12:g.227103995A>C	NCI-TCGA
rs1255159935	p.Leu267Val	missense variant	-	NC_000002.12:g.227103989G>C	TOPMed
rs374994488	p.Leu267Pro	missense variant	-	NC_000002.12:g.227103988A>G	ESP,ExAC,gnomAD
rs372007783	p.Tyr268Cys	missense variant	-	NC_000002.12:g.227103985T>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys269Asn	missense variant	-	NC_000002.12:g.227103981T>A	NCI-TCGA
rs1486055358	p.Lys269Arg	missense variant	-	NC_000002.12:g.227103982T>C	gnomAD
COSM3578444	p.Gly270Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227103980C>T	NCI-TCGA Cosmic
COSM3578443	p.Gly270Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227103979C>T	NCI-TCGA Cosmic
rs762043158	p.Gly273Ser	missense variant	-	NC_000002.12:g.227103197C>T	ExAC,gnomAD
rs1211056075	p.Ile274Met	missense variant	-	NC_000002.12:g.227103192T>C	gnomAD
rs531009724	p.Ile274Val	missense variant	-	NC_000002.12:g.227103194T>C	ExAC,gnomAD
NCI-TCGA novel	p.Gly276Glu	missense variant	-	NC_000002.12:g.227103187C>T	NCI-TCGA
rs202242354	p.Gly276Ala	missense variant	-	NC_000002.12:g.227103187C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1227443063	p.Val281Asp	missense variant	-	NC_000002.12:g.227103172A>T	TOPMed,gnomAD
rs1227443063	p.Val281Ala	missense variant	-	NC_000002.12:g.227103172A>G	TOPMed,gnomAD
COSM5895563	p.Gly282Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227103169C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro284Ser	missense variant	-	NC_000002.12:g.227103164G>A	NCI-TCGA
rs1393803026	p.Pro284Leu	missense variant	-	NC_000002.12:g.227103163G>A	gnomAD
rs771508613	p.Pro287Arg	missense variant	-	NC_000002.12:g.227103154G>C	ExAC
rs1386252160	p.Gly288Arg	missense variant	-	NC_000002.12:g.227103152C>T	gnomAD
rs201724183	p.Arg289His	missense variant	-	NC_000002.12:g.227103148C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs371904688	p.Arg289Cys	missense variant	-	NC_000002.12:g.227103149G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM1017304	p.Lys290Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227103144C>A	NCI-TCGA Cosmic
rs1370407423	p.Lys290Ter	stop gained	-	NC_000002.12:g.227103146T>A	gnomAD
rs371191979	p.Gly291Arg	missense variant	-	NC_000002.12:g.227102848C>T	ESP,TOPMed,gnomAD
NCI-TCGA novel	p.Glu292Ter	stop gained	-	NC_000002.12:g.227102845C>A	NCI-TCGA
COSM3578442	p.Gly294Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227102838C>T	NCI-TCGA Cosmic
rs200169272	p.Ile295Val	missense variant	-	NC_000002.12:g.227102836T>C	1000Genomes
rs770226190	p.Ile295Thr	missense variant	-	NC_000002.12:g.227102835A>G	ExAC,TOPMed,gnomAD
rs770226190	p.Ile295Thr	missense variant	-	NC_000002.12:g.227102835A>G	NCI-TCGA,NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala297Thr	missense variant	-	NC_000002.12:g.227102830C>T	NCI-TCGA
NCI-TCGA novel	p.Gly299Ter	stop gained	-	NC_000002.12:g.227102824C>A	NCI-TCGA
NCI-TCGA novel	p.Gly299GluPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.227102825T>-	NCI-TCGA
rs757578262	p.Gly299Arg	missense variant	-	NC_000002.12:g.227102824C>T	ExAC,gnomAD
rs1275985842	p.Glu300Gly	missense variant	-	NC_000002.12:g.227102820T>C	TOPMed
rs201436618	p.Lys301Glu	missense variant	-	NC_000002.12:g.227102818T>C	ExAC,TOPMed,gnomAD
RCV000735812	p.Gly302Ter	frameshift	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227102820dup	ClinVar
rs777687210	p.Gly302Asp	missense variant	-	NC_000002.12:g.227102814C>T	ExAC,gnomAD
rs777687210	p.Gly302Ala	missense variant	-	NC_000002.12:g.227102814C>G	ExAC,gnomAD
rs1469837124	p.Gly305Val	missense variant	-	NC_000002.12:g.227102805C>A	gnomAD
COSM268932	p.Pro309Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227102794G>A	NCI-TCGA Cosmic
rs758573964	p.Pro309His	missense variant	-	NC_000002.12:g.227102793G>T	ExAC,TOPMed,gnomAD
rs373741172	p.Arg310Gln	missense variant	-	NC_000002.12:g.227102790C>T	NCI-TCGA
RCV000274626	p.Arg310Trp	missense variant	Alport syndrome	NC_000002.12:g.227102791G>A	ClinVar
rs373741172	p.Arg310Gln	missense variant	-	NC_000002.12:g.227102790C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200817090	p.Arg310Trp	missense variant	-	NC_000002.12:g.227102791G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly311Val	missense variant	-	NC_000002.12:g.227101908C>A	NCI-TCGA
RCV000735782	p.Gly314Val	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227101899C>A	ClinVar
rs758339455	p.Tyr316Cys	missense variant	-	NC_000002.12:g.227101893T>C	ExAC,gnomAD
NCI-TCGA novel	p.Gly317Glu	missense variant	-	NC_000002.12:g.227101890C>T	NCI-TCGA
rs1250483068	p.Gly317Val	missense variant	-	NC_000002.12:g.227101890C>A	gnomAD
rs1187623318	p.Ser318Phe	missense variant	-	NC_000002.12:g.227101887G>A	gnomAD
rs779914520	p.Phe321Ser	missense variant	-	NC_000002.12:g.227101878A>G	ExAC,TOPMed,gnomAD
rs1254001825	p.Pro322Leu	missense variant	-	NC_000002.12:g.227101875G>A	gnomAD
rs543879807	p.Leu324Phe	missense variant	-	NC_000002.12:g.227101868T>G	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Lys325Asn	missense variant	-	NC_000002.12:g.227101865C>A	NCI-TCGA
NCI-TCGA novel	p.Glu327Ter	stop gained	-	NC_000002.12:g.227101554C>A	NCI-TCGA
rs375714304	p.Glu327Gly	missense variant	-	NC_000002.12:g.227101553T>C	ESP,ExAC,TOPMed,gnomAD
rs369963377	p.Glu327Lys	missense variant	-	NC_000002.12:g.227101554C>T	ESP,ExAC,gnomAD
rs1162654150	p.Gly329Arg	missense variant	-	NC_000002.12:g.227101548C>T	TOPMed
rs781202513	p.Val331Ile	missense variant	-	NC_000002.12:g.227101542C>T	ExAC,gnomAD
rs781202513	p.Val331Phe	missense variant	-	NC_000002.12:g.227101542C>A	ExAC,gnomAD
rs1450067865	p.Asp333Asn	missense variant	-	NC_000002.12:g.227101536C>T	gnomAD
rs756935668	p.Pro334Ser	missense variant	-	NC_000002.12:g.227101533G>A	ExAC
rs1391966809	p.Leu336Val	missense variant	-	NC_000002.12:g.227101527G>C	TOPMed,gnomAD
rs1454970232	p.Gly338Ala	missense variant	-	NC_000002.12:g.227101520C>G	TOPMed
NCI-TCGA novel	p.Gly341Val	missense variant	-	NC_000002.12:g.227101511C>A	NCI-TCGA
rs751402558	p.Pro342Leu	missense variant	-	NC_000002.12:g.227101508G>A	ExAC,TOPMed,gnomAD
rs1042927949	p.Pro346Ser	missense variant	-	NC_000002.12:g.227099683G>A	TOPMed
RCV000517925	p.Arg349Ter	nonsense	-	NC_000002.12:g.227099674G>A	ClinVar
rs534522842	p.Arg349Ter	stop gained	-	NC_000002.12:g.227099674G>A	NCI-TCGA,NCI-TCGA Cosmic
rs768664524	p.Arg349Gln	missense variant	-	NC_000002.12:g.227099673C>T	ExAC,TOPMed,gnomAD
rs534522842	p.Arg349Ter	stop gained	-	NC_000002.12:g.227099674G>A	1000Genomes,ExAC,gnomAD
rs1425658406	p.Gly350Arg	missense variant	-	NC_000002.12:g.227099671C>T	gnomAD
rs749374824	p.His351Tyr	missense variant	-	NC_000002.12:g.227099668G>A	ExAC,gnomAD
rs566734739	p.His351Gln	missense variant	-	NC_000002.12:g.227099666G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs371717486	p.Pro352Leu	missense variant	-	NC_000002.12:g.227099664G>A	ESP,ExAC,TOPMed,gnomAD
rs368293426	p.Pro355Ala	missense variant	-	NC_000002.12:g.227099656G>C	ESP,ExAC,TOPMed,gnomAD
rs1272544606	p.Pro355Leu	missense variant	-	NC_000002.12:g.227099655G>A	gnomAD
rs374680846	p.Leu358Phe	missense variant	-	NC_000002.12:g.227099645C>G	TOPMed,gnomAD
rs758324376	p.Pro361Gln	missense variant	-	NC_000002.12:g.227099637G>T	ExAC,gnomAD
rs758324376	p.Pro361Arg	missense variant	-	NC_000002.12:g.227099637G>C	ExAC,gnomAD
rs1418303214	p.Pro362Ser	missense variant	-	NC_000002.12:g.227099635G>A	TOPMed,gnomAD
rs560819344	p.Leu363Phe	missense variant	-	NC_000002.12:g.227099632G>A	NCI-TCGA
rs560819344	p.Leu363Phe	missense variant	-	NC_000002.12:g.227099632G>A	TOPMed,gnomAD
rs1282280651	p.Pro364Leu	missense variant	-	NC_000002.12:g.227099628G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Lys366Ter	stop gained	-	NC_000002.12:g.227099623T>A	NCI-TCGA
rs1351856671	p.Lys366Thr	missense variant	-	NC_000002.12:g.227099622T>G	gnomAD
rs764981982	p.Gly367Ser	missense variant	-	NC_000002.12:g.227099620C>T	ExAC,TOPMed,gnomAD
rs754649548	p.Gly367Asp	missense variant	-	NC_000002.12:g.227098798C>T	ExAC,TOPMed,gnomAD
rs753486694	p.Pro369Gln	missense variant	-	NC_000002.12:g.227098792G>T	ExAC,TOPMed,gnomAD
rs779604374	p.Gly370Glu	missense variant	-	NC_000002.12:g.227098789C>T	ExAC,gnomAD
RCV000681778	p.Gly370Arg	missense variant	-	NC_000002.12:g.227098790C>T	ClinVar
COSM1326373	p.Asp371Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227098787C>A	NCI-TCGA Cosmic
rs1275375343	p.Asp371Gly	missense variant	-	NC_000002.12:g.227098786T>C	NCI-TCGA
rs1275375343	p.Asp371Gly	missense variant	-	NC_000002.12:g.227098786T>C	gnomAD
NCI-TCGA novel	p.Pro372ArgPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.227098782_227098783TG>-	NCI-TCGA
rs1234751719	p.Pro372Ala	missense variant	-	NC_000002.12:g.227098784G>C	TOPMed,gnomAD
RCV000516503	p.Gly373Glu	missense variant	-	NC_000002.12:g.227098780C>T	ClinVar
NCI-TCGA novel	p.Gly373Arg	missense variant	-	NC_000002.12:g.227098781C>T	NCI-TCGA
rs755649235	p.Gly373Glu	missense variant	-	NC_000002.12:g.227098780C>T	ExAC,gnomAD
NCI-TCGA novel	p.Phe374AlaPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.227098772_227098778CAGGGAA>-	NCI-TCGA
rs750876779	p.Pro375Thr	missense variant	-	NC_000002.12:g.227098775G>T	ExAC,TOPMed,gnomAD
rs1210956763	p.Pro375Leu	missense variant	-	NC_000002.12:g.227098774G>A	gnomAD
COSM1405946	p.Arg377Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227098769G>T	NCI-TCGA Cosmic
RCV000825323	p.Arg377Cys	missense variant	-	NC_000002.12:g.227098769G>A	ClinVar
RCV000673765	p.Arg377Cys	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227098769G>A	ClinVar
rs555143841	p.Arg377Cys	missense variant	-	NC_000002.12:g.227098769G>A	ExAC,TOPMed,gnomAD
rs762117485	p.Arg377His	missense variant	-	NC_000002.12:g.227098768C>T	ExAC,TOPMed,gnomAD
COSM3578440	p.Gly379Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227098762C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu380Ter	stop gained	-	NC_000002.12:g.227098760C>A	NCI-TCGA
rs1314208165	p.Thr381Ile	missense variant	-	NC_000002.12:g.227098756G>A	gnomAD
rs751952236	p.Gly382Ala	missense variant	-	NC_000002.12:g.227098753C>G	ExAC,TOPMed,gnomAD
COSM1405945	p.Asp383Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227098751C>T	NCI-TCGA Cosmic
rs1298169388	p.Asp383His	missense variant	-	NC_000002.12:g.227098751C>G	gnomAD
rs764482364	p.Asp383Gly	missense variant	-	NC_000002.12:g.227098750T>C	ExAC,TOPMed,gnomAD
rs763210833	p.Val384Ile	missense variant	-	NC_000002.12:g.227098748C>T	ExAC,gnomAD
rs769910854	p.Pro386Leu	missense variant	-	NC_000002.12:g.227098741G>A	ExAC,gnomAD
rs775630232	p.Pro386Ser	missense variant	-	NC_000002.12:g.227098742G>A	ExAC,TOPMed,gnomAD
rs1162767245	p.Pro387Leu	missense variant	-	NC_000002.12:g.227098738G>A	gnomAD
rs1162767245	p.Pro387Arg	missense variant	-	NC_000002.12:g.227098738G>C	gnomAD
rs1351733260	p.Pro387Ser	missense variant	-	NC_000002.12:g.227098739G>A	gnomAD
COSM4460429	p.Pro389Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227098733G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro389Leu	missense variant	-	NC_000002.12:g.227098732G>A	NCI-TCGA
rs1444625451	p.Pro389His	missense variant	-	NC_000002.12:g.227098732G>T	gnomAD
COSM3578439	p.Pro390Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227098730G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro390GlnPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.227098729G>-	NCI-TCGA
NCI-TCGA novel	p.Gly391Val	missense variant	-	NC_000002.12:g.227098726C>A	NCI-TCGA
rs1391341843	p.Leu392Val	missense variant	-	NC_000002.12:g.227098724G>C	TOPMed,gnomAD
rs1391341843	p.Leu392Ile	missense variant	-	NC_000002.12:g.227098724G>T	TOPMed,gnomAD
rs995082623	p.Leu393Trp	missense variant	-	NC_000002.12:g.227098720A>C	gnomAD
rs995082623	p.Leu393Ser	missense variant	-	NC_000002.12:g.227098720A>G	gnomAD
rs773140858	p.Gly397Arg	missense variant	-	NC_000002.12:g.227098709C>T	ExAC,gnomAD
rs1329712764	p.Cys400Gly	missense variant	-	NC_000002.12:g.227098700A>C	TOPMed
RCV000604763	p.Ala401Val	missense variant	-	NC_000002.12:g.227098696G>A	ClinVar
rs199581317	p.Ala401Val	missense variant	-	NC_000002.12:g.227098696G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs971177655	p.Ala401Thr	missense variant	-	NC_000002.12:g.227098697C>T	TOPMed,gnomAD
rs971177655	p.Ala401Pro	missense variant	-	NC_000002.12:g.227098697C>G	TOPMed,gnomAD
NCI-TCGA novel	p.Gly402Ser	missense variant	-	NC_000002.12:g.227098694C>T	NCI-TCGA
rs201233834	p.Gly402Asp	missense variant	-	NC_000002.12:g.227094289C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs201233834	p.Gly402Val	missense variant	-	NC_000002.12:g.227094289C>A	1000Genomes,ExAC,TOPMed,gnomAD
COSM1017303	p.Met403Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227094285C>T	NCI-TCGA Cosmic
rs549802744	p.Pro406Arg	missense variant	-	NC_000002.12:g.227094277G>C	ExAC,TOPMed,gnomAD
rs549802744	p.Pro406Leu	missense variant	-	NC_000002.12:g.227094277G>A	ExAC,TOPMed,gnomAD
rs768501162	p.Pro406Ser	missense variant	-	NC_000002.12:g.227094278G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro407His	missense variant	-	NC_000002.12:g.227094274G>T	NCI-TCGA
rs1408599134	p.Pro407Leu	missense variant	-	NC_000002.12:g.227094274G>A	gnomAD
rs745574182	p.Pro407Ser	missense variant	-	NC_000002.12:g.227094275G>A	ExAC,gnomAD
RCV000735751	p.Gly408Ter	frameshift	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227094258_227094274del	ClinVar
rs1026613471	p.Gly408Glu	missense variant	-	NC_000002.12:g.227094271C>T	gnomAD
RCV000592398	p.Pro409Ser	missense variant	-	NC_000002.12:g.227094269G>A	ClinVar
rs377292825	p.Pro409Thr	missense variant	-	NC_000002.12:g.227094269G>T	ESP,ExAC,gnomAD
rs747508280	p.Pro409Leu	missense variant	-	NC_000002.12:g.227094268G>A	ExAC,gnomAD
rs377292825	p.Pro409Ser	missense variant	-	NC_000002.12:g.227094269G>A	ESP,ExAC,gnomAD
rs778254234	p.Gln410Arg	missense variant	-	NC_000002.12:g.227094265T>C	ExAC,gnomAD
COSM3578438	p.Gly411Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227094262C>T	NCI-TCGA Cosmic
COSM280058	p.Gly411Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.227094263C>A	NCI-TCGA Cosmic
rs758729139	p.Gly411Arg	missense variant	-	NC_000002.12:g.227094263C>T	ExAC,gnomAD
rs753022770	p.Phe412Cys	missense variant	-	NC_000002.12:g.227094259A>C	ExAC,gnomAD
rs373150214	p.Gly414Arg	missense variant	-	NC_000002.12:g.227094254C>G	ESP,TOPMed
NCI-TCGA novel	p.Leu415Val	missense variant	-	NC_000002.12:g.227094251G>C	NCI-TCGA
rs1249738800	p.Leu415Ile	missense variant	-	NC_000002.12:g.227094251G>T	gnomAD
rs372841765	p.Pro416Ser	missense variant	-	NC_000002.12:g.227094248G>A	NCI-TCGA Cosmic
rs372841765	p.Pro416Ser	missense variant	-	NC_000002.12:g.227094248G>A	ESP,ExAC,TOPMed,gnomAD
rs372841765	p.Pro416Ala	missense variant	-	NC_000002.12:g.227094248G>C	ESP,ExAC,TOPMed,gnomAD
rs896901315	p.Leu418Phe	missense variant	-	NC_000002.12:g.227094242G>A	gnomAD
rs1260987762	p.Pro419Thr	missense variant	-	NC_000002.12:g.227094239G>T	TOPMed,gnomAD
rs1260987762	p.Pro419Ser	missense variant	-	NC_000002.12:g.227094239G>A	TOPMed,gnomAD
rs1330069551	p.Gly420Glu	missense variant	-	NC_000002.12:g.227094235C>T	gnomAD
rs755138243	p.Glu421Val	missense variant	-	NC_000002.12:g.227094232T>A	ExAC,gnomAD
rs1249855254	p.Ala422Thr	missense variant	-	NC_000002.12:g.227094230C>T	TOPMed
rs766565996	p.Ile424Thr	missense variant	-	NC_000002.12:g.227094223A>G	ExAC,gnomAD
rs766565996	p.Ile424Ser	missense variant	-	NC_000002.12:g.227094223A>C	ExAC,gnomAD
rs754175145	p.Ile424Val	missense variant	-	NC_000002.12:g.227094224T>C	ExAC,TOPMed,gnomAD
rs376942659	p.Pro425Ser	missense variant	-	NC_000002.12:g.227094221G>A	ESP,ExAC,TOPMed,gnomAD
rs552375817	p.Gly426Arg	missense variant	-	NC_000002.12:g.227094218C>T	1000Genomes,ExAC,gnomAD
rs1019388756	p.Gly426Glu	missense variant	-	NC_000002.12:g.227094217C>T	TOPMed,gnomAD
rs1019388756	p.Gly426Glu	missense variant	-	NC_000002.12:g.227094217C>T	NCI-TCGA
NCI-TCGA novel	p.Arg427Ile	missense variant	-	NC_000002.12:g.227094214C>A	NCI-TCGA
rs1469022535	p.Pro428Thr	missense variant	-	NC_000002.12:g.227094212G>T	gnomAD
rs768175504	p.Pro428His	missense variant	-	NC_000002.12:g.227094211G>T	gnomAD
rs373583878	p.Ala431Val	missense variant	-	NC_000002.12:g.227094202G>A	ESP
NCI-TCGA novel	p.Gly433Ter	stop gained	-	NC_000002.12:g.227094197C>A	NCI-TCGA
rs1468186854	p.Gly433Glu	missense variant	-	NC_000002.12:g.227094196C>T	gnomAD
rs1160845292	p.Gly433Arg	missense variant	-	NC_000002.12:g.227094197C>T	gnomAD
rs1468186854	p.Gly433Ala	missense variant	-	NC_000002.12:g.227094196C>G	gnomAD
rs1468186854	p.Gly433Glu	missense variant	-	NC_000002.12:g.227094196C>T	NCI-TCGA Cosmic
rs201932355	p.Pro438Leu	missense variant	-	NC_000002.12:g.227094181G>A	1000Genomes,ExAC,gnomAD
rs1489854655	p.Gly439Arg	missense variant	-	NC_000002.12:g.227094179C>T	TOPMed
rs769678857	p.Gly439Ala	missense variant	-	NC_000002.12:g.227094178C>G	ExAC,gnomAD
VAR_008148	p.Pro441_Ala446del	inframe_deletion	-	-	UniProt
NCI-TCGA novel	p.Gly442Asp	missense variant	-	NC_000002.12:g.227094169C>T	NCI-TCGA
rs1202808022	p.Leu443Met	missense variant	-	NC_000002.12:g.227094167A>T	gnomAD
rs548019779	p.Gly445Ala	missense variant	-	NC_000002.12:g.227094160C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs952623313	p.Pro447Leu	missense variant	-	NC_000002.12:g.227094154G>A	TOPMed
rs758856398	p.Gln450His	missense variant	-	NC_000002.12:g.227094144C>G	ExAC,TOPMed,gnomAD
rs778200765	p.Gln450Glu	missense variant	-	NC_000002.12:g.227094146G>C	ExAC,TOPMed,gnomAD
rs1381210450	p.Gly451Ser	missense variant	-	NC_000002.12:g.227094143C>T	gnomAD
rs779135957	p.Pro453Arg	missense variant	-	NC_000002.12:g.227094136G>C	ExAC,TOPMed,gnomAD
rs779135957	p.Pro453Leu	missense variant	-	NC_000002.12:g.227094136G>A	ExAC,TOPMed,gnomAD
rs1436290027	p.Pro453Ser	missense variant	-	NC_000002.12:g.227094137G>A	gnomAD
COSM1405943	p.Gly454Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227094133C>A	NCI-TCGA Cosmic
rs1319908269	p.Gly454Arg	missense variant	-	NC_000002.12:g.227094134C>T	TOPMed,gnomAD
rs1398573472	p.Ser456Arg	missense variant	-	NC_000002.12:g.227094126A>T	gnomAD
rs1363033921	p.Ser456Arg	missense variant	-	NC_000002.12:g.227094128T>G	TOPMed
rs765230841	p.Tyr459His	missense variant	-	NC_000002.12:g.227089952A>G	ExAC,gnomAD
RCV000735741	p.Cys460Tyr	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227089948C>T	ClinVar
rs753659852	p.Cys460Tyr	missense variant	-	NC_000002.12:g.227089948C>T	ExAC,TOPMed,gnomAD
rs1275096105	p.Gly463Glu	missense variant	-	NC_000002.12:g.227089939C>T	gnomAD
NCI-TCGA novel	p.Asn464Ser	missense variant	-	NC_000002.12:g.227089936T>C	NCI-TCGA
rs760310493	p.Asn464Lys	missense variant	-	NC_000002.12:g.227089935G>T	ExAC,gnomAD
rs200411532	p.Pro465His	missense variant	-	NC_000002.12:g.227089933G>T	ExAC,TOPMed,gnomAD
rs200411532	p.Pro465Leu	missense variant	-	NC_000002.12:g.227089933G>A	ExAC,TOPMed,gnomAD
RCV000518015	p.Gly466Arg	missense variant	-	NC_000002.12:g.227089931C>T	ClinVar
rs201859109	p.Gly466Arg	missense variant	-	NC_000002.12:g.227089931C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1356222440	p.Pro467Leu	missense variant	-	NC_000002.12:g.227089927G>A	gnomAD
RCV000669401	p.Gly469Ter	nonsense	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227089922C>A	ClinVar
rs926605269	p.Gly469Arg	missense variant	-	NC_000002.12:g.227089922C>G	TOPMed
rs926605269	p.Gly469Arg	missense variant	-	NC_000002.12:g.227089922C>T	TOPMed
rs926605269	p.Gly469Ter	stop gained	-	NC_000002.12:g.227089922C>A	TOPMed
rs898704658	p.Ile470Val	missense variant	-	NC_000002.12:g.227089919T>C	TOPMed
rs1425551756	p.Lys471Arg	missense variant	-	NC_000002.12:g.227089915T>C	gnomAD
rs1178918119	p.Lys471Asn	missense variant	-	NC_000002.12:g.227089914T>A	gnomAD
rs1280731376	p.Gly472Asp	missense variant	-	NC_000002.12:g.227089912C>T	TOPMed
COSM1017302	p.Val474Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227089907C>A	NCI-TCGA Cosmic
rs769320178	p.Val474Ala	missense variant	-	NC_000002.12:g.227089906A>G	ExAC,gnomAD
rs769320178	p.Val474Asp	missense variant	-	NC_000002.12:g.227089906A>T	ExAC,gnomAD
RCV000681862	p.Gly475Cys	missense variant	-	NC_000002.12:g.227089904C>A	ClinVar
RCV000735674	p.Gly475Val	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227089903C>A	ClinVar
rs1371408968	p.Gly475Ser	missense variant	-	NC_000002.12:g.227089904C>T	gnomAD
rs780544830	p.Pro476Ser	missense variant	-	NC_000002.12:g.227089901G>A	ExAC,TOPMed,gnomAD
rs780544830	p.Pro476Ala	missense variant	-	NC_000002.12:g.227089901G>C	ExAC,TOPMed,gnomAD
rs780544830	p.Pro476Thr	missense variant	-	NC_000002.12:g.227089901G>T	ExAC,TOPMed,gnomAD
COSM3578435	p.Gly478Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227089895C>T	NCI-TCGA Cosmic
rs781479400	p.Gly478Glu	missense variant	-	NC_000002.12:g.227089894C>T	ExAC
COSM3578434	p.Gly479Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227089891C>T	NCI-TCGA Cosmic
RCV000354389	p.Gly479Arg	missense variant	Alport syndrome	NC_000002.12:g.227089892C>G	ClinVar
rs202210475	p.Gly479Arg	missense variant	-	NC_000002.12:g.227089892C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs202210475	p.Gly479Arg	missense variant	-	NC_000002.12:g.227089892C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg480Lys	missense variant	-	NC_000002.12:g.227089888C>T	NCI-TCGA
rs1183415867	p.Arg480Gly	missense variant	-	NC_000002.12:g.227089889T>C	TOPMed
rs181528936	p.Gly481Ser	missense variant	-	NC_000002.12:g.227089886C>T	1000Genomes,ExAC,gnomAD
RCV000299491	p.Pro482Ser	missense variant	Alport syndrome	NC_000002.12:g.227089883G>A	ClinVar
RCV000248568	p.Pro482Ser	missense variant	-	NC_000002.12:g.227089883G>A	ClinVar
rs2229814	p.Pro482Ser	missense variant	-	NC_000002.12:g.227089883G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs2229814	p.Pro482Thr	missense variant	-	NC_000002.12:g.227089883G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1396011735	p.Pro482Arg	missense variant	-	NC_000002.12:g.227089882G>C	TOPMed
NCI-TCGA novel	p.Lys483Gln	missense variant	-	NC_000002.12:g.227089880T>G	NCI-TCGA
NCI-TCGA novel	p.Gly484Glu	missense variant	-	NC_000002.12:g.227089876C>T	NCI-TCGA
rs754875125	p.Glu485Ter	stop gained	-	NC_000002.12:g.227089874C>A	ExAC,gnomAD
RCV000479726	p.Gly487Glu	missense variant	-	NC_000002.12:g.227088816C>T	ClinVar
rs1064796418	p.Gly487Glu	missense variant	-	NC_000002.12:g.227088816C>T	-
rs747230903	p.Asn488His	missense variant	-	NC_000002.12:g.227088814T>G	ExAC,TOPMed,gnomAD
rs1339269673	p.Gly490Glu	missense variant	-	NC_000002.12:g.227088807C>T	TOPMed
rs1316989602	p.Gly490Arg	missense variant	-	NC_000002.12:g.227088808C>T	gnomAD
rs777805216	p.Leu491Phe	missense variant	-	NC_000002.12:g.227088805G>A	ExAC,TOPMed,gnomAD
rs758543409	p.Cys492Phe	missense variant	-	NC_000002.12:g.227088801C>A	ExAC,gnomAD
rs1321522432	p.Cys494Arg	missense variant	-	NC_000002.12:g.227088796A>G	gnomAD
rs1455513537	p.Cys494Tyr	missense variant	-	NC_000002.12:g.227088795C>T	TOPMed,gnomAD
rs749160885	p.Glu495Lys	missense variant	-	NC_000002.12:g.227088793C>T	ExAC,gnomAD
COSM6157235	p.Met499Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227088781T>C	NCI-TCGA Cosmic
COSM4092074	p.Gly500Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227088777C>A	NCI-TCGA Cosmic
rs1182243065	p.Gly500Asp	missense variant	-	NC_000002.12:g.227088777C>T	gnomAD
rs755819211	p.Pro501Ser	missense variant	-	NC_000002.12:g.227088775G>A	ExAC,gnomAD
COSM1405942	p.Pro502LeuPheSerTerUnkUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.227088771G>-	NCI-TCGA Cosmic
rs767258671	p.Pro502Ser	missense variant	-	NC_000002.12:g.227088772G>A	ExAC,TOPMed,gnomAD
rs767258671	p.Pro502Ala	missense variant	-	NC_000002.12:g.227088772G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly503TrpPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.227088770_227088771insG	NCI-TCGA
COSM1405941	p.Pro504Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227088765G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro504Ser	missense variant	-	NC_000002.12:g.227088766G>A	NCI-TCGA
rs756912251	p.Pro505Leu	missense variant	-	NC_000002.12:g.227088762G>A	ExAC,TOPMed,gnomAD
rs1258499665	p.Gly506Glu	missense variant	-	NC_000002.12:g.227088759C>T	gnomAD
COSM3909733	p.Pro508Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227088754G>A	NCI-TCGA Cosmic
COSM1017301	p.Gly509Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227088750C>T	NCI-TCGA Cosmic
COSM4399517	p.Gly509Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227088751C>A	NCI-TCGA Cosmic
rs1293880566	p.Arg510Ser	missense variant	-	NC_000002.12:g.227088746C>A	gnomAD
rs763691757	p.Arg510Lys	missense variant	-	NC_000002.12:g.227088747C>T	ExAC,TOPMed,gnomAD
rs1243647983	p.Gln511Pro	missense variant	-	NC_000002.12:g.227088744T>G	gnomAD
rs1298055778	p.Gly512Arg	missense variant	-	NC_000002.12:g.227088742C>T	gnomAD
rs367596778	p.Ser513Gly	missense variant	-	NC_000002.12:g.227088739T>C	ESP,TOPMed
rs762556340	p.Ser513Asn	missense variant	-	NC_000002.12:g.227088738C>T	ExAC,TOPMed,gnomAD
rs765866000	p.Gly515Arg	missense variant	-	NC_000002.12:g.227088733C>T	NCI-TCGA
rs765866000	p.Gly515Ter	stop gained	-	NC_000002.12:g.227088733C>A	ExAC,gnomAD
rs765866000	p.Gly515Arg	missense variant	-	NC_000002.12:g.227088733C>T	ExAC,gnomAD
COSM4092073	p.Asp516Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227088728G>T	NCI-TCGA Cosmic
rs1437323443	p.Asp516Asn	missense variant	-	NC_000002.12:g.227088730C>T	gnomAD
rs759776011	p.Asp516Val	missense variant	-	NC_000002.12:g.227088729T>A	ExAC,gnomAD
COSM5861918	p.Gly518Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227088723C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly518Arg	missense variant	-	NC_000002.12:g.227088724C>T	NCI-TCGA
rs564334744	p.Gly518Val	missense variant	-	NC_000002.12:g.227088723C>A	1000Genomes
rs777020629	p.Leu519Val	missense variant	-	NC_000002.12:g.227088721G>C	ExAC,TOPMed,gnomAD
rs777020629	p.Leu519Phe	missense variant	-	NC_000002.12:g.227088721G>A	ExAC,TOPMed,gnomAD
rs777020629	p.Leu519Ile	missense variant	-	NC_000002.12:g.227088721G>T	ExAC,TOPMed,gnomAD
rs771245112	p.Pro520Leu	missense variant	-	NC_000002.12:g.227088717G>A	NCI-TCGA
rs771245112	p.Pro520Leu	missense variant	-	NC_000002.12:g.227088717G>A	ExAC,gnomAD
rs994436130	p.Pro520Ser	missense variant	-	NC_000002.12:g.227088718G>A	TOPMed,gnomAD
rs1329215208	p.Trp522Leu	missense variant	-	NC_000002.12:g.227088711C>A	gnomAD
rs184755865	p.Leu523Phe	missense variant	-	NC_000002.12:g.227088709G>A	1000Genomes,ExAC,gnomAD
rs772086694	p.Gly524Glu	missense variant	-	NC_000002.12:g.227088705C>T	ExAC,TOPMed,gnomAD
rs748252231	p.Thr525Ile	missense variant	-	NC_000002.12:g.227088702G>A	ExAC,gnomAD
rs1047016888	p.Lys526Asn	missense variant	-	NC_000002.12:g.227088698T>A	TOPMed,gnomAD
rs1358624171	p.Gly527Asp	missense variant	-	NC_000002.12:g.227088696C>T	gnomAD
RCV000670337	p.Gly527Cys	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227088697C>A	ClinVar
rs779930511	p.Gly527Cys	missense variant	-	NC_000002.12:g.227088697C>A	ExAC,gnomAD
rs1251758935	p.Asp528Glu	missense variant	-	NC_000002.12:g.227088692G>T	TOPMed,gnomAD
rs781028305	p.Pro531Leu	missense variant	-	NC_000002.12:g.227088684G>A	ExAC,gnomAD
rs745843581	p.Pro531Ser	missense variant	-	NC_000002.12:g.227088685G>A	ExAC,TOPMed,gnomAD
rs1220014019	p.Pro532Ser	missense variant	-	NC_000002.12:g.227088682G>A	TOPMed,gnomAD
RCV000672440	p.Gly533Asp	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227088678C>T	ClinVar
rs1553669704	p.Gly533Asp	missense variant	-	NC_000002.12:g.227088678C>T	-
rs757066334	p.Ala534Thr	missense variant	-	NC_000002.12:g.227088676C>T	ExAC,gnomAD
RCV000516179	p.Glu535Ter	nonsense	-	NC_000002.12:g.227088673C>A	ClinVar
rs1553669674	p.Glu535Ter	stop gained	-	NC_000002.12:g.227088673C>A	-
rs572051556	p.Pro537Thr	missense variant	-	NC_000002.12:g.227088667G>T	1000Genomes,ExAC,gnomAD
rs976957703	p.Pro538Ala	missense variant	-	NC_000002.12:g.227088664G>C	TOPMed
rs374709257	p.Leu540Pro	missense variant	-	NC_000002.12:g.227088657A>G	TOPMed,gnomAD
rs1315043344	p.Pro541Gln	missense variant	-	NC_000002.12:g.227088654G>T	TOPMed
COSM3578432	p.Gly542Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227082186C>T	NCI-TCGA Cosmic
COSM4092072	p.Lys543Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227082184T>G	NCI-TCGA Cosmic
rs768676046	p.Lys543Asn	missense variant	-	NC_000002.12:g.227082182C>G	ExAC,TOPMed,gnomAD
rs745815071	p.His544Tyr	missense variant	-	NC_000002.12:g.227082181G>A	ExAC,gnomAD
RCV000263301	p.Gly545Ala	missense variant	Alport syndrome	NC_000002.12:g.227082177C>G	ClinVar
rs1800516	p.Gly545Ala	missense variant	-	NC_000002.12:g.227082177C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1407850296	p.Ala546Ser	missense variant	-	NC_000002.12:g.227082175C>A	gnomAD
rs770699956	p.Pro549Thr	missense variant	-	NC_000002.12:g.227082166G>T	ExAC,gnomAD
rs746822428	p.Pro550Leu	missense variant	-	NC_000002.12:g.227082162G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly554Trp	missense variant	-	NC_000002.12:g.227082151C>A	NCI-TCGA
NCI-TCGA novel	p.Gly554Glu	missense variant	-	NC_000002.12:g.227082150C>T	NCI-TCGA
rs371066387	p.Ala555Val	missense variant	-	NC_000002.12:g.227082147G>A	ESP,ExAC,TOPMed,gnomAD
rs764279454	p.Lys556Asn	missense variant	-	NC_000002.12:g.227082143C>A	ExAC,TOPMed,gnomAD
rs752442074	p.Lys556Glu	missense variant	-	NC_000002.12:g.227082145T>C	ExAC,gnomAD
COSM3578429	p.Gly557Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227082141C>G	NCI-TCGA Cosmic
rs1261519406	p.Gly557Asp	missense variant	-	NC_000002.12:g.227082141C>T	gnomAD
rs754510013	p.Asp558Asn	missense variant	-	NC_000002.12:g.227082139C>T	ExAC,TOPMed,gnomAD
rs754315471	p.Val561Ile	missense variant	-	NC_000002.12:g.227082130C>T	ExAC,TOPMed,gnomAD
rs1262560467	p.Val564Ile	missense variant	-	NC_000002.12:g.227082121C>T	gnomAD
NCI-TCGA novel	p.His567Tyr	missense variant	-	NC_000002.12:g.227080547G>A	NCI-TCGA
rs779659612	p.Lys568Asn	missense variant	-	NC_000002.12:g.227080542T>G	ExAC,gnomAD
COSM3578427	p.Gly569Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227080540C>T	NCI-TCGA Cosmic
VAR_008150	p.Glu570Gln	Missense	-	-	UniProt
rs372524863	p.Arg571Gly	missense variant	-	NC_000002.12:g.227080535T>C	ESP
RCV000672904	p.Gly572Ala	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227080531C>G	ClinVar
rs1446915781	p.Gly572Ala	missense variant	-	NC_000002.12:g.227080531C>G	TOPMed,gnomAD
rs1319812013	p.Pro573Leu	missense variant	-	NC_000002.12:g.227080528G>A	gnomAD
rs1415380548	p.Asp574Glu	missense variant	-	NC_000002.12:g.227080524A>T	TOPMed
rs750986328	p.Pro576Thr	missense variant	-	NC_000002.12:g.227080520G>T	ExAC,gnomAD
rs1357636626	p.Pro580Ser	missense variant	-	NC_000002.12:g.227080508G>A	TOPMed
rs1332310606	p.Pro583Ser	missense variant	-	NC_000002.12:g.227080499G>A	TOPMed
COSM5528994	p.Gly584Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227080495C>T	NCI-TCGA Cosmic
COSM6157236	p.Gly584Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227080495C>A	NCI-TCGA Cosmic
rs1415614071	p.Ser585Thr	missense variant	-	NC_000002.12:g.227080493A>T	gnomAD
rs757624919	p.His586Asn	missense variant	-	NC_000002.12:g.227080490G>T	ExAC,gnomAD
rs757624919	p.His586Asp	missense variant	-	NC_000002.12:g.227080490G>C	ExAC,gnomAD
rs751744651	p.His586Arg	missense variant	-	NC_000002.12:g.227080489T>C	ExAC,TOPMed,gnomAD
rs764242946	p.Gly587Ser	missense variant	-	NC_000002.12:g.227080487C>T	ExAC,gnomAD
rs566586172	p.Gly587Asp	missense variant	-	NC_000002.12:g.227080486C>T	1000Genomes,ExAC,gnomAD
rs778889239	p.Arg588Trp	missense variant	-	NC_000002.12:g.227080484G>A	NCI-TCGA,NCI-TCGA Cosmic
rs369334025	p.Arg588Gln	missense variant	-	NC_000002.12:g.227080483C>T	ESP,ExAC,TOPMed,gnomAD
rs778889239	p.Arg588Trp	missense variant	-	NC_000002.12:g.227080484G>A	ExAC,TOPMed,gnomAD
RCV000358072	p.Asp589Glu	missense variant	Alport syndrome	NC_000002.12:g.227080479A>T	ClinVar
rs375225723	p.Asp589Val	missense variant	-	NC_000002.12:g.227080480T>A	ESP,ExAC,gnomAD
rs886055727	p.Asp589Glu	missense variant	-	NC_000002.12:g.227080479A>T	-
COSM3047083	p.Gly590Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227080477C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly590Ter	stop gained	-	NC_000002.12:g.227080478C>A	NCI-TCGA
NCI-TCGA novel	p.His591Gln	missense variant	-	NC_000002.12:g.227080473A>T	NCI-TCGA
rs773347000	p.His591Arg	missense variant	-	NC_000002.12:g.227080474T>C	ExAC,gnomAD
rs771922842	p.Ala592Pro	missense variant	-	NC_000002.12:g.227080472C>G	ExAC,TOPMed,gnomAD
rs747981508	p.Ala592Val	missense variant	-	NC_000002.12:g.227080471G>A	ExAC,TOPMed,gnomAD
rs948847159	p.Gly593Arg	missense variant	-	NC_000002.12:g.227080469C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly593Glu	missense variant	-	NC_000002.12:g.227080468C>T	NCI-TCGA
rs948847159	p.Gly593Arg	missense variant	-	NC_000002.12:g.227080469C>T	-
RCV000576871	p.Glu594Gly	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227080465T>C	ClinVar
rs35998949	p.Glu594Gly	missense variant	-	NC_000002.12:g.227080465T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs35998949	p.Glu594Gly	missense variant	-	NC_000002.12:g.227080465T>C	UniProt,dbSNP
VAR_055680	p.Glu594Gly	missense variant	-	NC_000002.12:g.227080465T>C	UniProt
rs35998949	p.Glu594Ala	missense variant	-	NC_000002.12:g.227080465T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM3578424	p.Gly596Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227080459C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp597His	missense variant	-	NC_000002.12:g.227080457C>G	NCI-TCGA
rs755687527	p.Asp597Asn	missense variant	-	NC_000002.12:g.227080457C>T	ExAC
rs1411689737	p.Pro598Thr	missense variant	-	NC_000002.12:g.227080454G>T	NCI-TCGA
rs1411689737	p.Pro598Thr	missense variant	-	NC_000002.12:g.227080454G>T	TOPMed,gnomAD
COSM3578423	p.Gly599Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227080451C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro600His	missense variant	-	NC_000002.12:g.227080447G>T	NCI-TCGA
rs1478679157	p.Pro600Leu	missense variant	-	NC_000002.12:g.227080447G>A	TOPMed
rs796349531	p.Pro600Ser	missense variant	-	NC_000002.12:g.227080448G>A	gnomAD
rs796349531	p.Pro600Thr	missense variant	-	NC_000002.12:g.227080448G>T	gnomAD
rs746310187	p.Pro601Ala	missense variant	-	NC_000002.12:g.227080445G>C	ExAC,gnomAD
COSM3909731	p.Gly602Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227078076C>T	NCI-TCGA Cosmic
rs1479512818	p.Asp603Asn	missense variant	-	NC_000002.12:g.227078074C>T	NCI-TCGA
rs1479512818	p.Asp603Asn	missense variant	-	NC_000002.12:g.227078074C>T	gnomAD
RCV000735669	p.Ala607Val	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227078061G>A	ClinVar
rs373916569	p.Ala607Gly	missense variant	-	NC_000002.12:g.227078061G>C	ESP,ExAC,TOPMed,gnomAD
rs373916569	p.Ala607Val	missense variant	-	NC_000002.12:g.227078061G>A	ESP,ExAC,TOPMed,gnomAD
rs75539253	p.Ala607Thr	missense variant	-	NC_000002.12:g.227078062C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs747599746	p.Thr608Asn	missense variant	-	NC_000002.12:g.227078058G>T	ExAC,TOPMed,gnomAD
rs1205148307	p.Pro609Leu	missense variant	-	NC_000002.12:g.227078055G>A	gnomAD
rs1263397268	p.Pro609Ala	missense variant	-	NC_000002.12:g.227078056G>C	gnomAD
RCV000735781	p.Gly610Ser	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227078053C>T	ClinVar
rs758860164	p.Gly611Ser	missense variant	-	NC_000002.12:g.227078050C>T	ExAC,gnomAD
COSM3578422	p.Gly613Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227078044C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Phe614Ser	missense variant	-	NC_000002.12:g.227078040A>G	NCI-TCGA
NCI-TCGA novel	p.Gly616Glu	missense variant	-	NC_000002.12:g.227078034C>T	NCI-TCGA
rs374340855	p.Gly619Asp	missense variant	-	NC_000002.12:g.227078025C>T	NCI-TCGA,NCI-TCGA Cosmic
rs374340855	p.Gly619Asp	missense variant	-	NC_000002.12:g.227078025C>T	ESP,TOPMed,gnomAD
COSM3578421	p.Pro620Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227078023G>A	NCI-TCGA Cosmic
rs1383197806	p.Pro620Leu	missense variant	-	NC_000002.12:g.227078022G>A	gnomAD
NCI-TCGA novel	p.Pro621GlnPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.227078019G>-	NCI-TCGA
COSM3578420	p.Ala624Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227078011C>T	NCI-TCGA Cosmic
rs1468423581	p.Pro626Leu	missense variant	-	NC_000002.12:g.227078004G>A	gnomAD
rs751582850	p.Pro629Ser	missense variant	-	NC_000002.12:g.227077996G>A	ExAC,gnomAD
rs751582850	p.Pro629Ala	missense variant	-	NC_000002.12:g.227077996G>C	ExAC,gnomAD
COSM4449243	p.Pro630GlnPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.227077997C>-	NCI-TCGA Cosmic
RCV000681909	p.Pro630Ter	frameshift	-	NC_000002.12:g.227077996del	ClinVar
NCI-TCGA novel	p.Gly631Arg	missense variant	-	NC_000002.12:g.227077990C>T	NCI-TCGA
COSM3407633	p.Gly633Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227077983C>T	NCI-TCGA Cosmic
rs1445668955	p.Gly633Arg	missense variant	-	NC_000002.12:g.227077984C>T	NCI-TCGA
NCI-TCGA novel	p.Gly633Ter	stop gained	-	NC_000002.12:g.227077984C>A	NCI-TCGA
rs1445668955	p.Gly633Arg	missense variant	-	NC_000002.12:g.227077984C>G	TOPMed,gnomAD
rs1245320351	p.Gly633Val	missense variant	-	NC_000002.12:g.227077983C>A	gnomAD
rs1445668955	p.Gly633Arg	missense variant	-	NC_000002.12:g.227077984C>T	TOPMed,gnomAD
rs762822768	p.Pro635Ser	missense variant	-	NC_000002.12:g.227077978G>A	NCI-TCGA,NCI-TCGA Cosmic
rs762822768	p.Pro635Ser	missense variant	-	NC_000002.12:g.227077978G>A	ExAC,gnomAD
RCV000735736	p.Gly636Asp	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227077974C>T	ClinVar
rs1559563141	p.Gly636Asp	missense variant	-	NC_000002.12:g.227077974C>T	NCI-TCGA Cosmic
rs775076627	p.Pro637Ser	missense variant	-	NC_000002.12:g.227077972G>A	ExAC,TOPMed,gnomAD
rs775076627	p.Pro637Thr	missense variant	-	NC_000002.12:g.227077972G>T	ExAC,TOPMed,gnomAD
rs1451317346	p.Pro637Arg	missense variant	-	NC_000002.12:g.227077971G>C	TOPMed
rs770528353	p.Glu640Gln	missense variant	-	NC_000002.12:g.227077963C>G	ExAC,gnomAD
rs772923694	p.Glu640Asp	missense variant	-	NC_000002.12:g.227077961C>G	ExAC,gnomAD
rs770528353	p.Glu640Lys	missense variant	-	NC_000002.12:g.227077963C>T	NCI-TCGA,NCI-TCGA Cosmic
rs770528353	p.Glu640Lys	missense variant	-	NC_000002.12:g.227077963C>T	ExAC,gnomAD
rs778345125	p.Arg641Ter	stop gained	-	NC_000002.12:g.227077960G>A	NCI-TCGA,NCI-TCGA Cosmic
rs772264905	p.Arg641Gln	missense variant	-	NC_000002.12:g.227077959C>T	ExAC,TOPMed,gnomAD
rs772264905	p.Arg641Leu	missense variant	-	NC_000002.12:g.227077959C>A	ExAC,TOPMed,gnomAD
rs778345125	p.Arg641Ter	stop gained	-	NC_000002.12:g.227077960G>A	ExAC,gnomAD
rs918067165	p.His643Gln	missense variant	-	NC_000002.12:g.227077952G>T	TOPMed,gnomAD
rs918067165	p.His643Gln	missense variant	-	NC_000002.12:g.227077952G>C	TOPMed,gnomAD
COSM3407631	p.Gly645Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227077948C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly645Glu	missense variant	-	NC_000002.12:g.227077947C>T	NCI-TCGA
rs1474479165	p.Pro647Ala	missense variant	-	NC_000002.12:g.227077942G>C	TOPMed
rs1385828696	p.His649Arg	missense variant	-	NC_000002.12:g.227077935T>C	TOPMed
rs1378721742	p.His649Gln	missense variant	-	NC_000002.12:g.227077934G>T	TOPMed,gnomAD
NCI-TCGA novel	p.Pro650Thr	missense variant	-	NC_000002.12:g.227077933G>T	NCI-TCGA
rs1289625084	p.Pro650Ser	missense variant	-	NC_000002.12:g.227077933G>A	gnomAD
rs1289625084	p.Pro650Ser	missense variant	-	NC_000002.12:g.227077933G>A	NCI-TCGA
rs1380965387	p.Val652Ala	missense variant	-	NC_000002.12:g.227077926A>G	gnomAD
NCI-TCGA novel	p.Arg653Lys	missense variant	-	NC_000002.12:g.227077923C>T	NCI-TCGA
rs1158615890	p.Gly654Asp	missense variant	-	NC_000002.12:g.227077920C>T	NCI-TCGA
rs1158615890	p.Gly654Asp	missense variant	-	NC_000002.12:g.227077920C>T	gnomAD
RCV000308008	p.Pro655Ser	missense variant	Alport syndrome	NC_000002.12:g.227077918G>A	ClinVar
rs886055726	p.Pro655Ser	missense variant	-	NC_000002.12:g.227077918G>A	NCI-TCGA
rs1400871758	p.Pro655Leu	missense variant	-	NC_000002.12:g.227077917G>A	TOPMed
rs886055726	p.Pro655Ser	missense variant	-	NC_000002.12:g.227077918G>A	TOPMed
NCI-TCGA novel	p.Asp656Asn	missense variant	-	NC_000002.12:g.227077915C>T	NCI-TCGA
rs1387537859	p.Asp656Gly	missense variant	-	NC_000002.12:g.227077914T>C	TOPMed,gnomAD
rs1387537859	p.Asp656Ala	missense variant	-	NC_000002.12:g.227077914T>G	TOPMed,gnomAD
rs755233004	p.Gly657Ala	missense variant	-	NC_000002.12:g.227077911C>G	ExAC,gnomAD
rs754175083	p.Leu658Met	missense variant	-	NC_000002.12:g.227077909A>T	ExAC,gnomAD
rs951795075	p.Gly660Cys	missense variant	-	NC_000002.12:g.227077903C>A	NCI-TCGA Cosmic
rs951795075	p.Gly660Cys	missense variant	-	NC_000002.12:g.227077903C>A	-
rs1471894276	p.Gly663Asp	missense variant	-	NC_000002.12:g.227062598C>T	TOPMed
rs201181725	p.Asp664Asn	missense variant	-	NC_000002.12:g.227062596C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1206960358	p.Ile666Val	missense variant	-	NC_000002.12:g.227062590T>C	gnomAD
rs1027545000	p.Ser667Tyr	missense variant	-	NC_000002.12:g.227062586G>T	TOPMed
RCV000401997	p.Val670Ile	missense variant	Alport syndrome	NC_000002.12:g.227062578C>T	ClinVar
rs34236495	p.Val670Ile	missense variant	-	NC_000002.12:g.227062578C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1224239459	p.Thr671Ser	missense variant	-	NC_000002.12:g.227062574G>C	gnomAD
rs772759757	p.Pro673Ala	missense variant	-	NC_000002.12:g.227062569G>C	ExAC,gnomAD
rs772759757	p.Pro673Ser	missense variant	-	NC_000002.12:g.227062569G>A	ExAC,gnomAD
rs1018765959	p.Arg675Gly	missense variant	-	NC_000002.12:g.227062563T>C	TOPMed,gnomAD
rs369522855	p.His676Arg	missense variant	-	NC_000002.12:g.227062559T>C	ESP,ExAC,TOPMed,gnomAD
rs369522855	p.His676Pro	missense variant	-	NC_000002.12:g.227062559T>G	ESP,ExAC,TOPMed,gnomAD
COSM379243	p.Gly677Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227062556C>T	NCI-TCGA Cosmic
rs868455763	p.Gly680Ser	missense variant	-	NC_000002.12:g.227062548C>T	NCI-TCGA
RCV000516278	p.Gly680Asp	missense variant	-	NC_000002.12:g.227062547C>T	ClinVar
rs868455763	p.Gly680Ser	missense variant	-	NC_000002.12:g.227062548C>T	-
rs1553646081	p.Gly680Asp	missense variant	-	NC_000002.12:g.227062547C>T	-
rs1460723752	p.Phe681Cys	missense variant	-	NC_000002.12:g.227062544A>C	gnomAD
RCV000490277	p.Asp682Gly	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227062541T>C	ClinVar
rs1397709159	p.Asp682Asn	missense variant	-	NC_000002.12:g.227062542C>T	gnomAD
rs142093416	p.Asp682Gly	missense variant	-	NC_000002.12:g.227062541T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs775537879	p.Pro684Leu	missense variant	-	NC_000002.12:g.227062535G>A	ExAC,gnomAD
rs775537879	p.Pro684Arg	missense variant	-	NC_000002.12:g.227062535G>C	ExAC,gnomAD
rs770025316	p.Pro685Ser	missense variant	-	NC_000002.12:g.227062533G>A	ExAC,gnomAD
rs1156323870	p.Gly686Asp	missense variant	-	NC_000002.12:g.227060243C>T	TOPMed
rs776718481	p.Pro687Leu	missense variant	-	NC_000002.12:g.227060240G>A	ExAC,TOPMed,gnomAD
rs776718481	p.Pro687Arg	missense variant	-	NC_000002.12:g.227060240G>C	ExAC,TOPMed,gnomAD
rs1419631048	p.Gly689Arg	missense variant	-	NC_000002.12:g.227060235C>T	NCI-TCGA Cosmic
rs1419631048	p.Gly689Arg	missense variant	-	NC_000002.12:g.227060235C>T	TOPMed
rs193063790	p.Pro691Leu	missense variant	-	NC_000002.12:g.227060228G>A	1000Genomes,TOPMed
rs1353512742	p.Gly692Arg	missense variant	-	NC_000002.12:g.227060226C>G	gnomAD
rs572923977	p.Pro693Ser	missense variant	-	NC_000002.12:g.227060223G>A	NCI-TCGA,NCI-TCGA Cosmic
rs572923977	p.Pro693Ser	missense variant	-	NC_000002.12:g.227060223G>A	1000Genomes,ExAC,gnomAD
rs1454854538	p.Pro693Leu	missense variant	-	NC_000002.12:g.227060222G>A	gnomAD
COSM74223	p.Gly695Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227060217C>A	NCI-TCGA Cosmic
RCV000673938	p.Gly695Asp	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227060216C>T	ClinVar
rs1553644402	p.Gly695Asp	missense variant	-	NC_000002.12:g.227060216C>T	-
rs1394976876	p.Ala696Asp	missense variant	-	NC_000002.12:g.227060213G>T	NCI-TCGA
rs1394976876	p.Ala696Asp	missense variant	-	NC_000002.12:g.227060213G>T	gnomAD
COSM6090721	p.Pro697His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227060210G>T	NCI-TCGA Cosmic
rs1241404192	p.Gly698Arg	missense variant	-	NC_000002.12:g.227060208C>T	TOPMed
RCV000681925	p.Gly698Arg	missense variant	-	NC_000002.12:g.227060208C>T	ClinVar
rs781014928	p.Gly701Val	missense variant	-	NC_000002.12:g.227060198C>A	ExAC,gnomAD
rs1379525680	p.Gly704Arg	missense variant	-	NC_000002.12:g.227060190C>T	gnomAD
RCV000518448	p.Gly704Arg	missense variant	-	NC_000002.12:g.227060190C>T	ClinVar
rs375898877	p.His705Gln	missense variant	-	NC_000002.12:g.227060185A>T	ESP,ExAC,TOPMed,gnomAD
rs751084682	p.His705Arg	missense variant	-	NC_000002.12:g.227060186T>C	ExAC,gnomAD
rs763538915	p.Lys706Thr	missense variant	-	NC_000002.12:g.227060183T>G	ExAC,gnomAD
rs1187070950	p.Lys706Asn	missense variant	-	NC_000002.12:g.227060182T>G	gnomAD
rs759828394	p.Arg708Ile	missense variant	-	NC_000002.12:g.227060177C>A	ExAC,TOPMed,gnomAD
rs944601920	p.Pro712Leu	missense variant	-	NC_000002.12:g.227060165G>A	TOPMed,gnomAD
rs944601920	p.Pro712Arg	missense variant	-	NC_000002.12:g.227060165G>C	TOPMed,gnomAD
rs76636743	p.Ala715Val	missense variant	-	NC_000002.12:g.227060156G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu716Lys	missense variant	-	NC_000002.12:g.227060154C>T	NCI-TCGA
rs1354637374	p.Pro718Leu	missense variant	-	NC_000002.12:g.227060147G>A	TOPMed,gnomAD
rs1354637374	p.Pro718Leu	missense variant	-	NC_000002.12:g.227060147G>A	NCI-TCGA Cosmic
rs772209566	p.Pro718Thr	missense variant	-	NC_000002.12:g.227060148G>T	ExAC,gnomAD
rs1282108781	p.Pro720Ser	missense variant	-	NC_000002.12:g.227060142G>A	NCI-TCGA Cosmic
rs1282108781	p.Pro720Ser	missense variant	-	NC_000002.12:g.227060142G>A	gnomAD
rs749186337	p.Pro720Arg	missense variant	-	NC_000002.12:g.227060141G>C	ExAC,gnomAD
rs749186337	p.Pro720Leu	missense variant	-	NC_000002.12:g.227060141G>A	ExAC,gnomAD
RCV000292890	p.Pro720Leu	missense variant	Alport syndrome	NC_000002.12:g.227060141G>A	ClinVar
rs200759521	p.Pro721Ser	missense variant	-	NC_000002.12:g.227060139G>A	ESP,ExAC,TOPMed,gnomAD
rs1379168086	p.Pro721Arg	missense variant	-	NC_000002.12:g.227060138G>C	TOPMed
RCV000483855	p.Arg724His	missense variant	-	NC_000002.12:g.227059617C>T	ClinVar
COSM1017298	p.Arg724Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227059618G>T	NCI-TCGA Cosmic
RCV000625621	p.Arg724His	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227059617C>T	ClinVar
rs754398956	p.Arg724Cys	missense variant	-	NC_000002.12:g.227059618G>A	NCI-TCGA,NCI-TCGA Cosmic
rs754398956	p.Arg724Cys	missense variant	-	NC_000002.12:g.227059618G>A	ExAC,TOPMed,gnomAD
rs200146486	p.Arg724His	missense variant	-	NC_000002.12:g.227059617C>T	ExAC,TOPMed,gnomAD
rs1455477268	p.Asp726Gly	missense variant	-	NC_000002.12:g.227059611T>C	TOPMed,gnomAD
rs1259639203	p.Met727Val	missense variant	-	NC_000002.12:g.227059609T>C	gnomAD
rs202243658	p.Gly728Arg	missense variant	-	NC_000002.12:g.227059606C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp729Tyr	missense variant	-	NC_000002.12:g.227059603C>A	NCI-TCGA
rs757875990	p.Asp729Asn	missense variant	-	NC_000002.12:g.227059603C>T	ExAC,gnomAD
COSM1017296	p.Pro730Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227059600G>A	NCI-TCGA Cosmic
rs747641722	p.Pro730Leu	missense variant	-	NC_000002.12:g.227059599G>A	ExAC,TOPMed,gnomAD
rs1263214485	p.Pro730Ala	missense variant	-	NC_000002.12:g.227059600G>C	gnomAD
rs1471579492	p.Phe732Tyr	missense variant	-	NC_000002.12:g.227059593A>T	TOPMed
rs1050293057	p.Gly734Ser	missense variant	-	NC_000002.12:g.227059588C>T	gnomAD
rs267599229	p.Glu735Lys	missense variant	-	NC_000002.12:g.227059585C>T	NCI-TCGA,NCI-TCGA Cosmic
rs267599229	p.Glu735Lys	missense variant	-	NC_000002.12:g.227059585C>T	-
rs755416327	p.Gly737Arg	missense variant	-	NC_000002.12:g.227059579C>G	ExAC,gnomAD
COSM3578413	p.Ser738Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227059575G>A	NCI-TCGA Cosmic
rs1162166664	p.Ser738Tyr	missense variant	-	NC_000002.12:g.227059575G>T	TOPMed
rs754410974	p.Ser738Ala	missense variant	-	NC_000002.12:g.227059576A>C	ExAC,gnomAD
rs1178327075	p.Ser739Pro	missense variant	-	NC_000002.12:g.227059573A>G	TOPMed,gnomAD
rs1190375982	p.Ser739Phe	missense variant	-	NC_000002.12:g.227059572G>A	gnomAD
rs764547396	p.Pro744Ser	missense variant	-	NC_000002.12:g.227059558G>A	gnomAD
rs764547396	p.Pro744Ala	missense variant	-	NC_000002.12:g.227059558G>C	gnomAD
rs764547396	p.Pro744Thr	missense variant	-	NC_000002.12:g.227059558G>T	gnomAD
NCI-TCGA novel	p.Gly745Asp	missense variant	-	NC_000002.12:g.227059554C>T	NCI-TCGA
rs1300646978	p.Pro747Leu	missense variant	-	NC_000002.12:g.227059548G>A	TOPMed
rs762139460	p.Gly748Ser	missense variant	-	NC_000002.12:g.227059546C>T	NCI-TCGA,NCI-TCGA Cosmic
rs762139460	p.Gly748Ser	missense variant	-	NC_000002.12:g.227059546C>T	ExAC,TOPMed,gnomAD
rs1482809155	p.Gly748Ala	missense variant	-	NC_000002.12:g.227059545C>G	TOPMed,gnomAD
RCV000673217	p.Gly748Ser	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227059546C>T	ClinVar
COSM3798693	p.Ser749Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.227059542G>T	NCI-TCGA Cosmic
COSM418843	p.Ser749Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227059542G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly751Ter	stop gained	-	NC_000002.12:g.227059537C>A	NCI-TCGA
rs764295374	p.Val752Leu	missense variant	-	NC_000002.12:g.227059534C>G	ExAC,TOPMed,gnomAD
rs764295374	p.Val752Met	missense variant	-	NC_000002.12:g.227059534C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn753Ile	missense variant	-	NC_000002.12:g.227059530T>A	NCI-TCGA
rs1351571404	p.Asn753Ser	missense variant	-	NC_000002.12:g.227059530T>C	TOPMed
NCI-TCGA novel	p.Gly754Asp	missense variant	-	NC_000002.12:g.227059527C>T	NCI-TCGA
rs1211648246	p.Gln755Glu	missense variant	-	NC_000002.12:g.227059525G>C	gnomAD
rs776710976	p.Gln755Arg	missense variant	-	NC_000002.12:g.227059524T>C	ExAC,gnomAD
COSM3047072	p.Gly757Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227059518C>T	NCI-TCGA Cosmic
RCV000250969	p.Pro759Leu	missense variant	-	NC_000002.12:g.227059512G>A	ClinVar
rs36121515	p.Pro759Leu	missense variant	-	NC_000002.12:g.227059512G>A	UniProt,dbSNP
VAR_055682	p.Pro759Leu	missense variant	-	NC_000002.12:g.227059512G>A	UniProt
rs36121515	p.Pro759Leu	missense variant	-	NC_000002.12:g.227059512G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000681761	p.Asp761Ter	frameshift	-	NC_000002.12:g.227059511dup	ClinVar
RCV000671532	p.Asp761Ter	frameshift	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227059511dup	ClinVar
rs772959882	p.Asp761His	missense variant	-	NC_000002.12:g.227059507C>G	ExAC,gnomAD
NCI-TCGA novel	p.Pro762Thr	missense variant	-	NC_000002.12:g.227059504G>T	NCI-TCGA
NCI-TCGA novel	p.Pro762Ser	missense variant	-	NC_000002.12:g.227059504G>A	NCI-TCGA
rs904773552	p.Phe764Leu	missense variant	-	NC_000002.12:g.227059496A>C	TOPMed,gnomAD
rs771592467	p.Phe764Leu	missense variant	-	NC_000002.12:g.227059498A>G	ExAC,gnomAD
rs747881404	p.Gly765Val	missense variant	-	NC_000002.12:g.227059494C>A	ExAC,TOPMed,gnomAD
COSM1017295	p.Gly768Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227059485C>A	NCI-TCGA Cosmic
rs1289891228	p.Gly768Ter	stop gained	-	NC_000002.12:g.227059486C>A	gnomAD
rs754523110	p.Pro769Ser	missense variant	-	NC_000002.12:g.227059483G>A	ExAC,gnomAD
rs1186335206	p.Pro769Leu	missense variant	-	NC_000002.12:g.227059482G>A	TOPMed
rs374356930	p.Pro770Leu	missense variant	-	NC_000002.12:g.227059479G>A	NCI-TCGA,NCI-TCGA Cosmic
rs374356930	p.Pro770Leu	missense variant	-	NC_000002.12:g.227059479G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly771Ter	stop gained	-	NC_000002.12:g.227059477C>A	NCI-TCGA
rs1422059045	p.Gly771Arg	missense variant	-	NC_000002.12:g.227059477C>T	gnomAD
rs781660254	p.Gly771Glu	missense variant	-	NC_000002.12:g.227059476C>T	ExAC,gnomAD
NCI-TCGA novel	p.Arg773Met	missense variant	-	NC_000002.12:g.227059470C>A	NCI-TCGA
rs1441070476	p.Arg773Thr	missense variant	-	NC_000002.12:g.227059470C>G	TOPMed
RCV000626595	p.Gly774Arg	missense variant	Myopia	NC_000002.12:g.227059468C>G	ClinVar
RCV000665888	p.Gly774Arg	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227059468C>G	ClinVar
rs569681869	p.Gly774Arg	missense variant	-	NC_000002.12:g.227059468C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu775Ile	missense variant	-	NC_000002.12:g.227059465G>T	NCI-TCGA
COSM442416	p.Ser776Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227059461G>A	NCI-TCGA Cosmic
RCV000371664	p.Pro779Ala	missense variant	Alport syndrome	NC_000002.12:g.227059453G>C	ClinVar
NCI-TCGA novel	p.Pro779Gln	missense variant	-	NC_000002.12:g.227059452G>T	NCI-TCGA
NCI-TCGA novel	p.Pro779Leu	missense variant	-	NC_000002.12:g.227059452G>A	NCI-TCGA
rs886055725	p.Pro779Ala	missense variant	-	NC_000002.12:g.227059453G>C	-
COSM1017294	p.Gly783Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.227059441C>A	NCI-TCGA Cosmic
rs879255339	p.Gly783Arg	missense variant	-	NC_000002.12:g.227059441C>T	TOPMed
RCV000239054	p.Gly783Arg	missense variant	-	NC_000002.12:g.227059441C>T	ClinVar
NCI-TCGA novel	p.Arg785Ile	missense variant	-	NC_000002.12:g.227059434C>A	NCI-TCGA
rs1283723044	p.Arg785Gly	missense variant	-	NC_000002.12:g.227059435T>C	gnomAD
rs939081940	p.Gly786Ser	missense variant	-	NC_000002.12:g.227059432C>T	TOPMed
rs1215651633	p.Asp787Val	missense variant	-	NC_000002.12:g.227059428T>A	gnomAD
rs760734394	p.Pro788Leu	missense variant	-	NC_000002.12:g.227059425G>A	NCI-TCGA
rs760734394	p.Pro788Leu	missense variant	-	NC_000002.12:g.227059425G>A	ExAC,TOPMed,gnomAD
rs1315169587	p.Gly789Glu	missense variant	-	NC_000002.12:g.227059422C>T	gnomAD
rs761306857	p.Cys790Tyr	missense variant	-	NC_000002.12:g.227059419C>T	ExAC,gnomAD
rs768003309	p.Gly792Arg	missense variant	-	NC_000002.12:g.227059414C>T	ExAC,gnomAD
rs538043516	p.Gly792Glu	missense variant	-	NC_000002.12:g.227059413C>T	1000Genomes,ExAC,gnomAD
RCV000672416	p.Gly792Arg	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227059414C>T	ClinVar
rs377676207	p.Ala793Val	missense variant	-	NC_000002.12:g.227059410G>A	ESP,gnomAD
RCV000261710	p.Ala793Val	missense variant	Alport syndrome	NC_000002.12:g.227059410G>A	ClinVar
NCI-TCGA novel	p.Glu794Lys	missense variant	-	NC_000002.12:g.227059408C>T	NCI-TCGA
rs779584531	p.Gly795Arg	missense variant	-	NC_000002.12:g.227059405C>G	ExAC,gnomAD
rs760803228	p.Gly798Ser	missense variant	-	NC_000002.12:g.227057592C>T	TOPMed,gnomAD
rs1021274942	p.Ile799Val	missense variant	-	NC_000002.12:g.227057589T>C	TOPMed
rs200714000	p.Pro800Leu	missense variant	-	NC_000002.12:g.227057585G>A	NCI-TCGA Cosmic
rs773835909	p.Pro800Ser	missense variant	-	NC_000002.12:g.227057586G>A	ExAC,gnomAD
rs200714000	p.Pro800Leu	missense variant	-	NC_000002.12:g.227057585G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs200714000	p.Pro800Arg	missense variant	-	NC_000002.12:g.227057585G>C	1000Genomes,ExAC,TOPMed,gnomAD
RCV000320304	p.Pro800Arg	missense variant	Alport syndrome	NC_000002.12:g.227057585G>C	ClinVar
rs200814061	p.Gly801Ala	missense variant	-	NC_000002.12:g.227057582C>G	TOPMed,gnomAD
rs891673170	p.Gly804Ser	missense variant	-	NC_000002.12:g.227057574C>T	TOPMed,gnomAD
rs891673170	p.Gly804Arg	missense variant	-	NC_000002.12:g.227057574C>G	TOPMed,gnomAD
RCV000171505	p.Gly807Ter	frameshift	-	NC_000002.12:g.227057565del	ClinVar
rs774970509	p.Gly810Asp	missense variant	-	NC_000002.12:g.227057555C>T	ExAC,gnomAD
NCI-TCGA novel	p.Arg811Lys	missense variant	-	NC_000002.12:g.227057552C>T	NCI-TCGA
rs1386590600	p.Arg811Gly	missense variant	-	NC_000002.12:g.227057553T>C	gnomAD
rs1002702539	p.Arg811Thr	missense variant	-	NC_000002.12:g.227057552C>G	TOPMed
rs553409887	p.Glu812Ala	missense variant	-	NC_000002.12:g.227057549T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs907309781	p.Glu812Lys	missense variant	-	NC_000002.12:g.227057550C>T	TOPMed
NCI-TCGA novel	p.Gly813Ter	stop gained	-	NC_000002.12:g.227057547C>A	NCI-TCGA
NCI-TCGA novel	p.Ala815Thr	missense variant	-	NC_000002.12:g.227057541C>T	NCI-TCGA
rs771148902	p.Ala815Ser	missense variant	-	NC_000002.12:g.227057541C>A	ExAC,gnomAD
rs1466061793	p.Ala815Val	missense variant	-	NC_000002.12:g.227057540G>A	gnomAD
rs371817534	p.Gly816Glu	missense variant	-	NC_000002.12:g.227057537C>T	ESP,ExAC,TOPMed,gnomAD
rs371817534	p.Gly816Val	missense variant	-	NC_000002.12:g.227057537C>A	ESP,ExAC,TOPMed,gnomAD
rs1432433857	p.Pro818Arg	missense variant	-	NC_000002.12:g.227057531G>C	gnomAD
rs1365404056	p.Pro818Ser	missense variant	-	NC_000002.12:g.227057532G>A	TOPMed
rs1180820053	p.Pro821Ser	missense variant	-	NC_000002.12:g.227057523G>A	TOPMed,gnomAD
COSM4092071	p.Gly822Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227057520C>A	NCI-TCGA Cosmic
rs1324890649	p.Gly822Arg	missense variant	-	NC_000002.12:g.227057520C>G	TOPMed
NCI-TCGA novel	p.Pro824Leu	missense variant	-	NC_000002.12:g.227057513G>A	NCI-TCGA
rs1397321824	p.Gly825Asp	missense variant	-	NC_000002.12:g.227057510C>T	TOPMed,gnomAD
rs748437341	p.His826Tyr	missense variant	-	NC_000002.12:g.227057508G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ser827Phe	missense variant	-	NC_000002.12:g.227057504G>A	NCI-TCGA
rs779129753	p.Cys828Tyr	missense variant	-	NC_000002.12:g.227057501C>T	ExAC,gnomAD
NCI-TCGA novel	p.Gly831Ser	missense variant	-	NC_000002.12:g.227057493C>T	NCI-TCGA
rs1484252868	p.Gly831Ala	missense variant	-	NC_000002.12:g.227057492C>G	TOPMed,gnomAD
rs755124629	p.Ala832Asp	missense variant	-	NC_000002.12:g.227057489G>T	ExAC,TOPMed,gnomAD
rs755124629	p.Ala832Val	missense variant	-	NC_000002.12:g.227057489G>A	ExAC,TOPMed,gnomAD
rs1290930254	p.Pro833Leu	missense variant	-	NC_000002.12:g.227057486G>A	TOPMed
COSM3578410	p.Gly834Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227057484C>T	NCI-TCGA Cosmic
rs1206644449	p.Pro836Arg	missense variant	-	NC_000002.12:g.227057477G>C	TOPMed
rs201648982	p.Gly837Ala	missense variant	-	NC_000002.12:g.227057474C>G	1000Genomes,ExAC,TOPMed,gnomAD
RCV000669439	p.Gly837Ala	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227057474C>G	ClinVar
RCV000305177	p.Pro839Leu	missense variant	Alport syndrome	NC_000002.12:g.227057468G>A	ClinVar
rs199562472	p.Pro839Leu	missense variant	-	NC_000002.12:g.227057468G>A	NCI-TCGA,NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro839Ser	missense variant	-	NC_000002.12:g.227057469G>A	NCI-TCGA
rs199562472	p.Pro839Leu	missense variant	-	NC_000002.12:g.227057468G>A	ExAC,TOPMed,gnomAD
RCV000681759	p.Gly843Glu	missense variant	-	NC_000002.12:g.227057456C>T	ClinVar
rs775678728	p.Pro845Thr	missense variant	-	NC_000002.12:g.227057451G>T	ExAC,TOPMed,gnomAD
rs1403694164	p.Pro845Leu	missense variant	-	NC_000002.12:g.227057450G>A	gnomAD
rs775678728	p.Pro845Ser	missense variant	-	NC_000002.12:g.227057451G>A	ExAC,TOPMed,gnomAD
rs1431303701	p.Gly846Ser	missense variant	-	NC_000002.12:g.227057448C>T	TOPMed,gnomAD
RCV000449584	p.Ala850Val	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227056112G>A	ClinVar
rs758199486	p.Ala850Val	missense variant	-	NC_000002.12:g.227056112G>A	ExAC,TOPMed,gnomAD
rs1186965101	p.Pro851Ser	missense variant	-	NC_000002.12:g.227056110G>A	NCI-TCGA Cosmic
rs1186965101	p.Pro851Ser	missense variant	-	NC_000002.12:g.227056110G>A	gnomAD
COSM3578407	p.Gly853Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227056103C>T	NCI-TCGA Cosmic
rs752296059	p.Gly853Arg	missense variant	-	NC_000002.12:g.227056104C>T	ExAC,gnomAD
rs1397058659	p.Gly855Arg	missense variant	-	NC_000002.12:g.227056098C>T	NCI-TCGA Cosmic
rs1397058659	p.Gly855Arg	missense variant	-	NC_000002.12:g.227056098C>T	TOPMed
rs533602128	p.Pro857Leu	missense variant	-	NC_000002.12:g.227056091G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1488202851	p.Gly858Arg	missense variant	-	NC_000002.12:g.227056089C>T	gnomAD
rs776182609	p.Val860Gly	missense variant	-	NC_000002.12:g.227056082A>C	ExAC,gnomAD
rs776182609	p.Val860Ala	missense variant	-	NC_000002.12:g.227056082A>G	ExAC,gnomAD
rs1211933950	p.Pro862Thr	missense variant	-	NC_000002.12:g.227056077G>T	gnomAD
rs765863709	p.Pro862Arg	missense variant	-	NC_000002.12:g.227056076G>C	ExAC,gnomAD
rs773858171	p.Pro863Ser	missense variant	-	NC_000002.12:g.227056074G>A	ExAC,gnomAD
rs1405239064	p.Pro863His	missense variant	-	NC_000002.12:g.227056073G>T	TOPMed
COSM574033	p.Gly864Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227056071C>A	NCI-TCGA Cosmic
COSM5934490	p.Gly864Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227056070C>T	NCI-TCGA Cosmic
RCV000665368	p.Gly864Arg	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227056071C>T	ClinVar
rs937550597	p.Gly864Arg	missense variant	-	NC_000002.12:g.227056071C>T	gnomAD
rs762302461	p.Pro865Thr	missense variant	-	NC_000002.12:g.227056068G>T	ExAC,gnomAD
COSM6157237	p.Gly867Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227056062C>G	NCI-TCGA Cosmic
rs768902127	p.Gly867Arg	missense variant	-	NC_000002.12:g.227056062C>T	ExAC,gnomAD
rs1323986358	p.Met868Thr	missense variant	-	NC_000002.12:g.227056058A>G	gnomAD
rs1406834186	p.Lys869Asn	missense variant	-	NC_000002.12:g.227056054T>G	gnomAD
NCI-TCGA novel	p.Gly870Val	missense variant	-	NC_000002.12:g.227056052C>A	NCI-TCGA
rs929684384	p.Gly873Arg	missense variant	-	NC_000002.12:g.227056044C>T	NCI-TCGA
rs929684384	p.Gly873Arg	missense variant	-	NC_000002.12:g.227056044C>T	TOPMed
COSM3909728	p.Leu874Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227056041G>A	NCI-TCGA Cosmic
rs1425859536	p.Leu874Ile	missense variant	-	NC_000002.12:g.227056041G>T	TOPMed,gnomAD
NCI-TCGA novel	p.Pro875Leu	missense variant	-	NC_000002.12:g.227056037G>A	NCI-TCGA
RCV000364192	p.Arg877Gln	missense variant	Alport syndrome	NC_000002.12:g.227056031C>T	ClinVar
rs55948916	p.Arg877Trp	missense variant	-	NC_000002.12:g.227056032G>A	NCI-TCGA,NCI-TCGA Cosmic
rs55948916	p.Arg877Trp	missense variant	-	NC_000002.12:g.227056032G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs150979437	p.Arg877Gln	missense variant	-	NC_000002.12:g.227056031C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000509590	p.Ala880Ter	frameshift	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227056022_227056023del	ClinVar
rs920502780	p.Ala880Thr	missense variant	-	NC_000002.12:g.227056023C>T	TOPMed
rs754644077	p.Ala880Glu	missense variant	-	NC_000002.12:g.227056022G>T	ExAC
RCV000665226	p.Ala880Ter	frameshift	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227056026del	ClinVar
rs866023922	p.Pro883Leu	missense variant	-	NC_000002.12:g.227056013G>A	gnomAD
rs200761108	p.Pro883Ser	missense variant	-	NC_000002.12:g.227056014G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200761108	p.Pro883Thr	missense variant	-	NC_000002.12:g.227056014G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1425028482	p.Gly885Asp	missense variant	-	NC_000002.12:g.227056007C>T	NCI-TCGA
NCI-TCGA novel	p.Gly885ArgPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.227056008_227056009insT	NCI-TCGA
rs1425028482	p.Gly885Asp	missense variant	-	NC_000002.12:g.227056007C>T	TOPMed
RCV000505643	p.Gly888Arg	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227055999C>T	ClinVar
NCI-TCGA novel	p.Gly888Glu	missense variant	-	NC_000002.12:g.227055998C>T	NCI-TCGA
rs1363277825	p.Gly888Arg	missense variant	-	NC_000002.12:g.227055999C>T	TOPMed
rs762460101	p.Pro890Ala	missense variant	-	NC_000002.12:g.227055993G>C	ExAC,TOPMed,gnomAD
rs762460101	p.Pro890Ser	missense variant	-	NC_000002.12:g.227055993G>A	ExAC,TOPMed,gnomAD
COSM3578405	p.Pro892Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227055986G>A	NCI-TCGA Cosmic
rs774847155	p.Pro892His	missense variant	-	NC_000002.12:g.227055986G>T	ExAC,TOPMed,gnomAD
COSM3578404	p.Gly894Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227055980C>T	NCI-TCGA Cosmic
RCV000666567	p.Gly897Glu	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227055971C>T	ClinVar
rs121912860	p.Gly897Glu	missense variant	-	NC_000002.12:g.227055971C>T	TOPMed
rs121912860	p.Gly897Glu	missense variant	Hematuria, benign familial (BFH)	NC_000002.12:g.227055971C>T	UniProt,dbSNP
VAR_001912	p.Gly897Glu	missense variant	Hematuria, benign familial (BFH)	NC_000002.12:g.227055971C>T	UniProt
COSM1017293	p.Leu898Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227055969G>T	NCI-TCGA Cosmic
rs957909859	p.Pro899Arg	missense variant	-	NC_000002.12:g.227055965G>C	gnomAD
rs987568149	p.Pro899Ser	missense variant	-	NC_000002.12:g.227055966G>A	TOPMed
rs957909859	p.Pro899Leu	missense variant	-	NC_000002.12:g.227055965G>A	gnomAD
rs1296045337	p.Gly900Ala	missense variant	-	NC_000002.12:g.227055962C>G	TOPMed
rs868307078	p.Pro901Ala	missense variant	-	NC_000002.12:g.227055960G>C	TOPMed
rs868307078	p.Pro901Ser	missense variant	-	NC_000002.12:g.227055960G>A	TOPMed
rs201108212	p.Pro904Ala	missense variant	-	NC_000002.12:g.227055951G>C	1000Genomes,ExAC,gnomAD
rs1325550228	p.Gly906Arg	missense variant	-	NC_000002.12:g.227055945C>T	gnomAD
rs749931284	p.Pro907Ser	missense variant	-	NC_000002.12:g.227054735G>A	ExAC,TOPMed
rs749931284	p.Pro907Thr	missense variant	-	NC_000002.12:g.227054735G>T	ExAC,TOPMed
rs767194693	p.Arg908Trp	missense variant	-	NC_000002.12:g.227054732G>A	NCI-TCGA,NCI-TCGA Cosmic
rs762409067	p.Arg908Gln	missense variant	-	NC_000002.12:g.227054731C>T	ExAC,TOPMed,gnomAD
rs767194693	p.Arg908Trp	missense variant	-	NC_000002.12:g.227054732G>A	ExAC,TOPMed,gnomAD
rs1381828124	p.Leu910Arg	missense variant	-	NC_000002.12:g.227054725A>C	gnomAD
rs764465049	p.Pro911Arg	missense variant	-	NC_000002.12:g.227054722G>C	ExAC,gnomAD
rs1368366310	p.Pro911Ser	missense variant	-	NC_000002.12:g.227054723G>A	TOPMed
rs1553640846	p.Gly912Ser	missense variant	-	NC_000002.12:g.227054720C>T	-
RCV000658121	p.Gly912Ser	missense variant	-	NC_000002.12:g.227054720C>T	ClinVar
NCI-TCGA novel	p.Phe913Leu	missense variant	-	NC_000002.12:g.227054715G>T	NCI-TCGA
rs1469234661	p.Pro914Gln	missense variant	-	NC_000002.12:g.227054713G>T	gnomAD
rs1237546505	p.Pro917Ser	missense variant	-	NC_000002.12:g.227054705G>A	NCI-TCGA Cosmic
rs1237546505	p.Pro917Ser	missense variant	-	NC_000002.12:g.227054705G>A	gnomAD
rs372606845	p.Gly918Arg	missense variant	-	NC_000002.12:g.227054702C>T	NCI-TCGA,NCI-TCGA Cosmic
rs372606845	p.Gly918Arg	missense variant	-	NC_000002.12:g.227054702C>T	ExAC,TOPMed,gnomAD
COSM3578402	p.Glu919Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227054699C>T	NCI-TCGA Cosmic
RCV000735696	p.Glu919Gly	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227054698T>C	ClinVar
rs753208968	p.Glu919Gly	missense variant	-	NC_000002.12:g.227054698T>C	ExAC,TOPMed,gnomAD
COSM1405934	p.Arg920Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227054695C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg920Thr	missense variant	-	NC_000002.12:g.227054695C>G	NCI-TCGA
COSM3909727	p.Gly921Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227054693C>T	NCI-TCGA Cosmic
rs377626576	p.Lys922Asn	missense variant	-	NC_000002.12:g.227054688C>G	ESP,ExAC,TOPMed,gnomAD
rs771064865	p.Glu926Lys	missense variant	-	NC_000002.12:g.227054678C>T	ExAC,TOPMed,gnomAD
COSM4092068	p.Gly927Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227054674C>T	NCI-TCGA Cosmic
rs1307409094	p.Cys928Arg	missense variant	-	NC_000002.12:g.227054672A>G	gnomAD
COSM4092067	p.Pro929Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227054669G>A	NCI-TCGA Cosmic
COSM1017291	p.Gly930Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227054665C>T	NCI-TCGA Cosmic
rs748011297	p.Gly930Ser	missense variant	-	NC_000002.12:g.227054666C>T	ExAC,gnomAD
rs75875272	p.Ala931Thr	missense variant	-	NC_000002.12:g.227054663C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs75875272	p.Ala931Thr	missense variant	-	NC_000002.12:g.227054663C>T	UniProt,dbSNP
VAR_008151	p.Ala931Thr	missense variant	-	NC_000002.12:g.227054663C>T	UniProt
rs940183582	p.Ala931Val	missense variant	-	NC_000002.12:g.227054662G>A	TOPMed
RCV000604388	p.Ala931Thr	missense variant	-	NC_000002.12:g.227054663C>T	ClinVar
rs75875272	p.Ala931Ser	missense variant	-	NC_000002.12:g.227054663C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs745586762	p.Gly933Arg	missense variant	-	NC_000002.12:g.227054657C>G	ExAC,gnomAD
rs201901241	p.Pro935Leu	missense variant	-	NC_000002.12:g.227054650G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs201901241	p.Pro935His	missense variant	-	NC_000002.12:g.227054650G>T	1000Genomes,ExAC,TOPMed,gnomAD
COSM3578401	p.Glu937Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227054645C>T	NCI-TCGA Cosmic
rs752058872	p.Met940Thr	missense variant	-	NC_000002.12:g.227054635A>G	ExAC,gnomAD
rs1399760920	p.Met940Ile	missense variant	-	NC_000002.12:g.227054634C>T	gnomAD
NCI-TCGA novel	p.Ser941Phe	missense variant	-	NC_000002.12:g.227054632G>A	NCI-TCGA
RCV000681900	p.Leu943Ter	frameshift	-	NC_000002.12:g.227054628_227054629insTG	ClinVar
COSM477008	p.Pro944Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227054624G>T	NCI-TCGA Cosmic
rs1303057809	p.Gly945Arg	missense variant	-	NC_000002.12:g.227054621C>T	gnomAD
rs373540400	p.Arg947Gln	missense variant	-	NC_000002.12:g.227054614C>T	NCI-TCGA
rs373540400	p.Arg947Gln	missense variant	-	NC_000002.12:g.227054614C>T	ESP,ExAC,TOPMed,gnomAD
rs572872038	p.Arg947Trp	missense variant	-	NC_000002.12:g.227054615G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000673027	p.Arg947Gln	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227054614C>T	ClinVar
rs752977862	p.Gly948Val	missense variant	-	NC_000002.12:g.227054611C>A	ExAC,gnomAD
rs752977862	p.Gly948Ala	missense variant	-	NC_000002.12:g.227054611C>G	ExAC,gnomAD
rs779716354	p.Leu949Gln	missense variant	-	NC_000002.12:g.227054608A>T	ExAC,TOPMed,gnomAD
rs779716354	p.Leu949Arg	missense variant	-	NC_000002.12:g.227054608A>C	ExAC,TOPMed,gnomAD
rs779716354	p.Leu949Pro	missense variant	-	NC_000002.12:g.227054608A>G	ExAC,TOPMed,gnomAD
rs1194269620	p.Gly951Trp	missense variant	-	NC_000002.12:g.227054603C>A	gnomAD
rs766386122	p.Ala952Val	missense variant	-	NC_000002.12:g.227054599G>A	NCI-TCGA
rs766386122	p.Ala952Val	missense variant	-	NC_000002.12:g.227054599G>A	ExAC,TOPMed,gnomAD
rs766386122	p.Ala952Gly	missense variant	-	NC_000002.12:g.227054599G>C	ExAC,TOPMed,gnomAD
rs867280793	p.Ala952Ser	missense variant	-	NC_000002.12:g.227054600C>A	TOPMed
rs867280793	p.Ala952Thr	missense variant	-	NC_000002.12:g.227054600C>T	TOPMed
COSM3578400	p.Gly954Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227052412C>T	NCI-TCGA Cosmic
COSM4092066	p.Gly954Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.227054594C>A	NCI-TCGA Cosmic
COSM1017290	p.Gly957Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.227052404C>A	NCI-TCGA Cosmic
RCV000681725	p.Gly957Val	missense variant	-	NC_000002.12:g.227052403C>A	ClinVar
RCV000710842	p.Gly960Arg	missense variant	-	NC_000002.12:g.227052395C>T	ClinVar
rs769783985	p.Gly960Arg	missense variant	-	NC_000002.12:g.227052395C>T	TOPMed,gnomAD
rs769783985	p.Gly960Arg	missense variant	Hematuria, benign familial (BFH)	NC_000002.12:g.227052395C>T	UniProt,dbSNP
VAR_031624	p.Gly960Arg	missense variant	Hematuria, benign familial (BFH)	NC_000002.12:g.227052395C>T	UniProt
rs758813778	p.Asp961His	missense variant	-	NC_000002.12:g.227052392C>G	ExAC,gnomAD
rs753311400	p.Asp961Gly	missense variant	-	NC_000002.12:g.227052391T>C	ExAC,TOPMed,gnomAD
rs1396467090	p.Gly963Glu	missense variant	-	NC_000002.12:g.227052385C>T	TOPMed
NCI-TCGA novel	p.Glu964Lys	missense variant	-	NC_000002.12:g.227052383C>T	NCI-TCGA
NCI-TCGA novel	p.Ala966Thr	missense variant	-	NC_000002.12:g.227052377C>T	NCI-TCGA
rs1220486993	p.Ala966Val	missense variant	-	NC_000002.12:g.227052376G>A	gnomAD
RCV000352823	p.Ile967Val	missense variant	Alport syndrome	NC_000002.12:g.227052374T>C	ClinVar
rs80243096	p.Ile967Val	missense variant	-	NC_000002.12:g.227052374T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs766076896	p.Ile968Val	missense variant	-	NC_000002.12:g.227052371T>C	TOPMed,gnomAD
RCV000522361	p.Ser969Ter	nonsense	-	NC_000002.12:g.227052367G>C	ClinVar
RCV000763076	p.Ser969Ter	nonsense	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227052367G>C	ClinVar
rs35138315	p.Ser969Ter	stop gained	-	NC_000002.12:g.227052367G>C	ESP,ExAC,TOPMed,gnomAD
rs372413045	p.Gln970Ter	stop gained	-	NC_000002.12:g.227052365G>A	ESP,ExAC,TOPMed,gnomAD
rs372413045	p.Gln970Glu	missense variant	-	NC_000002.12:g.227052365G>C	ESP,ExAC,TOPMed,gnomAD
rs767704202	p.Gly972Arg	missense variant	-	NC_000002.12:g.227052359C>T	ExAC,gnomAD
rs1466685743	p.Thr973Ile	missense variant	-	NC_000002.12:g.227052355G>A	gnomAD
rs1466685743	p.Thr973Ile	missense variant	-	NC_000002.12:g.227052355G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly975Val	missense variant	-	NC_000002.12:g.227052349C>A	NCI-TCGA
rs1169633213	p.Gly975Arg	missense variant	-	NC_000002.12:g.227052350C>T	gnomAD
COSM4092065	p.Pro977Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227052343G>A	NCI-TCGA Cosmic
rs769300622	p.Pro977Ala	missense variant	-	NC_000002.12:g.227052344G>C	ExAC,TOPMed,gnomAD
rs759439914	p.Gly978Arg	missense variant	-	NC_000002.12:g.227052341C>T	ExAC,gnomAD
NCI-TCGA novel	p.Pro980Thr	missense variant	-	NC_000002.12:g.227052335G>T	NCI-TCGA
rs199772236	p.Pro980Arg	missense variant	-	NC_000002.12:g.227052334G>C	gnomAD
rs776605007	p.Asp982Gly	missense variant	-	NC_000002.12:g.227052328T>C	ExAC,TOPMed,gnomAD
RCV000592130	p.Glu988Gly	missense variant	-	NC_000002.12:g.227052310T>C	ClinVar
rs1200638480	p.Glu988Gly	missense variant	-	NC_000002.12:g.227052310T>C	gnomAD
rs759591544	p.Gly990Ala	missense variant	-	NC_000002.12:g.227051158C>G	ExAC,gnomAD
rs759591544	p.Gly990Asp	missense variant	-	NC_000002.12:g.227051158C>T	ExAC,gnomAD
COSM3578399	p.Asp991Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227051156C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly993Glu	missense variant	-	NC_000002.12:g.227051149C>T	NCI-TCGA
rs932615071	p.Pro995Ser	missense variant	-	NC_000002.12:g.227051144G>A	TOPMed,gnomAD
RCV000207754	p.Gly996Arg	missense variant	Benign familial hematuria (BFH)	NC_000002.12:g.227051141C>T	ClinVar
rs370474706	p.Gly996Arg	missense variant	-	NC_000002.12:g.227051141C>T	NCI-TCGA
NCI-TCGA novel	p.Gly996Glu	missense variant	-	NC_000002.12:g.227051140C>T	NCI-TCGA
rs370474706	p.Gly996Trp	missense variant	-	NC_000002.12:g.227051141C>A	ESP,ExAC,TOPMed,gnomAD
rs370474706	p.Gly996Arg	missense variant	-	NC_000002.12:g.227051141C>T	ESP,ExAC,TOPMed,gnomAD
rs1274307934	p.Met997Arg	missense variant	-	NC_000002.12:g.227051137A>C	TOPMed
RCV000246929	p.Gly999Glu	missense variant	-	NC_000002.12:g.227051131C>T	ClinVar
rs13027659	p.Gly999Glu	missense variant	-	NC_000002.12:g.227051131C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs13027659	p.Gly999Glu	missense variant	Hematuria, benign familial (BFH)	NC_000002.12:g.227051131C>T	UniProt,dbSNP
VAR_031625	p.Gly999Glu	missense variant	Hematuria, benign familial (BFH)	NC_000002.12:g.227051131C>T	UniProt
rs1310963588	p.Glu1003Ala	missense variant	-	NC_000002.12:g.227051119T>G	gnomAD
RCV000389933	p.Pro1004Leu	missense variant	Alport syndrome	NC_000002.12:g.227051116G>A	ClinVar
RCV000251893	p.Pro1004Leu	missense variant	-	NC_000002.12:g.227051116G>A	ClinVar
RCV000576626	p.Pro1004Leu	missense variant	-	NC_000002.12:g.227051116G>A	ClinVar
rs1800517	p.Pro1004Gln	missense variant	-	NC_000002.12:g.227051116G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1800517	p.Pro1004Leu	missense variant	-	NC_000002.12:g.227051116G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs769138971	p.Gly1005Glu	missense variant	-	NC_000002.12:g.227051113C>T	ExAC,TOPMed,gnomAD
COSM3909726	p.Arg1006Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227051110C>T	NCI-TCGA Cosmic
rs1451901507	p.Arg1006Ile	missense variant	-	NC_000002.12:g.227051110C>A	gnomAD
rs531161419	p.Arg1006Ser	missense variant	-	NC_000002.12:g.227051109T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs780331862	p.Tyr1007His	missense variant	-	NC_000002.12:g.227051108A>G	ExAC,TOPMed,gnomAD
RCV000667417	p.Gly1008Arg	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227051105C>T	ClinVar
NCI-TCGA novel	p.Gly1008Glu	missense variant	-	NC_000002.12:g.227051104C>T	NCI-TCGA
rs371172166	p.Gly1008Arg	missense variant	-	NC_000002.12:g.227051105C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201227345	p.Pro1010Arg	missense variant	-	NC_000002.12:g.227051098G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs201227345	p.Pro1010Leu	missense variant	-	NC_000002.12:g.227051098G>A	1000Genomes,ExAC,TOPMed,gnomAD
COSM3578397	p.Gly1011Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227051095C>T	NCI-TCGA Cosmic
rs751663801	p.His1013Tyr	missense variant	-	NC_000002.12:g.227051090G>A	NCI-TCGA,NCI-TCGA Cosmic
rs751663801	p.His1013Tyr	missense variant	-	NC_000002.12:g.227051090G>A	ExAC,TOPMed,gnomAD
rs1265801605	p.Arg1014Ser	missense variant	-	NC_000002.12:g.227051085T>A	gnomAD
rs764323652	p.Gly1015Glu	missense variant	-	NC_000002.12:g.227051083C>T	ExAC,TOPMed,gnomAD
RCV000673247	p.Gly1015Glu	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227051083C>T	ClinVar
rs533469199	p.Gly1018Arg	missense variant	-	NC_000002.12:g.227051075C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1259742546	p.Gly1018Ala	missense variant	-	NC_000002.12:g.227051074C>G	gnomAD
RCV000415007	p.Glu1019Gln	missense variant	Hypertension	NC_000002.12:g.227051072C>G	ClinVar
rs1057518854	p.Glu1019Gln	missense variant	-	NC_000002.12:g.227051072C>G	-
rs1244937877	p.Lys1020Gln	missense variant	-	NC_000002.12:g.227051069T>G	gnomAD
rs1164069094	p.Gly1021Arg	missense variant	-	NC_000002.12:g.227051066C>G	TOPMed
COSM272524	p.Pro1023Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227051060G>A	NCI-TCGA Cosmic
COSM1326375	p.Pro1025Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227051053G>C	NCI-TCGA Cosmic
rs753828699	p.Pro1025Thr	missense variant	-	NC_000002.12:g.227051054G>T	ExAC,gnomAD
rs1198659988	p.Pro1026Ser	missense variant	-	NC_000002.12:g.227051051G>A	NCI-TCGA Cosmic
rs1198659988	p.Pro1026Ser	missense variant	-	NC_000002.12:g.227051051G>A	TOPMed,gnomAD
COSM1531076	p.Gly1027Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227051047C>T	NCI-TCGA Cosmic
rs766028963	p.Gly1027Ala	missense variant	-	NC_000002.12:g.227051047C>G	ExAC,gnomAD
rs1403780482	p.Pro1028Leu	missense variant	-	NC_000002.12:g.227051044G>A	TOPMed
rs760539669	p.Pro1029Ser	missense variant	-	NC_000002.12:g.227051042G>A	ExAC,TOPMed,gnomAD
RCV000505652	p.Gly1030Asp	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227051038C>T	ClinVar
RCV000668043	p.Gly1030Val	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227051038C>A	ClinVar
rs772699709	p.Gly1030Val	missense variant	-	NC_000002.12:g.227051038C>A	ExAC,gnomAD
rs772699709	p.Gly1030Val	missense variant	Alport syndrome 2, autosomal recessive (ATS2)	NC_000002.12:g.227051038C>A	UniProt,dbSNP
VAR_008153	p.Gly1030Val	missense variant	Alport syndrome 2, autosomal recessive (ATS2)	NC_000002.12:g.227051038C>A	UniProt
rs772699709	p.Gly1030Asp	missense variant	-	NC_000002.12:g.227051038C>T	ExAC,gnomAD
COSM720454	p.Pro1031Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227051036G>T	NCI-TCGA Cosmic
COSM3578395	p.Ser1034Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227051027A>G	NCI-TCGA Cosmic
RCV000625560	p.Thr1035Ala	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227051024T>C	ClinVar
rs1553638898	p.Thr1035Ala	missense variant	-	NC_000002.12:g.227051024T>C	-
rs767166460	p.Gly1036Val	missense variant	-	NC_000002.12:g.227051020C>A	ExAC,gnomAD
RCV000681896	p.Leu1037Ter	frameshift	-	NC_000002.12:g.227051018_227051019del	ClinVar
COSM3578394	p.Arg1038Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227051014C>T	NCI-TCGA Cosmic
rs770930167	p.Arg1038Gly	missense variant	-	NC_000002.12:g.227051015T>C	ExAC,TOPMed,gnomAD
rs1245186753	p.Gly1039Arg	missense variant	-	NC_000002.12:g.227051012C>T	NCI-TCGA Cosmic
rs1245186753	p.Gly1039Arg	missense variant	-	NC_000002.12:g.227051012C>T	TOPMed
rs1478442466	p.Phe1040Leu	missense variant	-	NC_000002.12:g.227051009A>G	gnomAD
rs749738744	p.Phe1040Leu	missense variant	-	NC_000002.12:g.227051007G>T	ExAC,TOPMed,gnomAD
rs1208856562	p.Gly1042Val	missense variant	-	NC_000002.12:g.227051002C>A	TOPMed
rs1007654771	p.Pro1044Ser	missense variant	-	NC_000002.12:g.227050997G>A	-
rs1007654771	p.Pro1044Ser	missense variant	-	NC_000002.12:g.227050997G>A	NCI-TCGA Cosmic
rs1191531524	p.Leu1046Pro	missense variant	-	NC_000002.12:g.227050990A>G	gnomAD
rs776002982	p.Pro1047Ser	missense variant	-	NC_000002.12:g.227050988G>A	NCI-TCGA,NCI-TCGA Cosmic
rs776002982	p.Pro1047Ser	missense variant	-	NC_000002.12:g.227050988G>A	ExAC,gnomAD
NCI-TCGA novel	p.Asp1049Gly	missense variant	-	NC_000002.12:g.227050981T>C	NCI-TCGA
rs1260668396	p.Gln1050Ter	stop gained	-	NC_000002.12:g.227050979G>A	gnomAD
NCI-TCGA novel	p.Gly1051Val	missense variant	-	NC_000002.12:g.227050130C>A	NCI-TCGA
NCI-TCGA novel	p.Gly1051Cys	missense variant	-	NC_000002.12:g.227050131C>A	NCI-TCGA
rs1161763333	p.Gly1051Ser	missense variant	-	NC_000002.12:g.227050131C>T	gnomAD
rs1161763333	p.Gly1051Ser	missense variant	-	NC_000002.12:g.227050131C>T	NCI-TCGA
COSM1405933	p.Glu1052Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227050127T>G	NCI-TCGA Cosmic
rs553814126	p.Ser1055Cys	missense variant	-	NC_000002.12:g.227050118G>C	1000Genomes,ExAC,gnomAD
rs902831328	p.Pro1056Ala	missense variant	-	NC_000002.12:g.227050116G>C	TOPMed
rs774907866	p.Gly1057Cys	missense variant	-	NC_000002.12:g.227050113C>A	ExAC,gnomAD
rs774907866	p.Gly1057Ser	missense variant	-	NC_000002.12:g.227050113C>T	ExAC,gnomAD
rs770315777	p.Pro1058Thr	missense variant	-	NC_000002.12:g.227050110G>T	ExAC,gnomAD
COSM3047044	p.Pro1059LeuPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.227050106G>-	NCI-TCGA Cosmic
COSM3578390	p.Pro1059Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227050107G>C	NCI-TCGA Cosmic
rs1409898186	p.Gly1060Val	missense variant	-	NC_000002.12:g.227050103C>A	gnomAD
rs777045098	p.Ile1064Thr	missense variant	-	NC_000002.12:g.227050091A>G	ExAC,TOPMed,gnomAD
rs746417033	p.Ile1064Val	missense variant	-	NC_000002.12:g.227050092T>C	ExAC
rs541835572	p.Asp1065Glu	missense variant	-	NC_000002.12:g.227050087A>T	1000Genomes,gnomAD
rs771202106	p.Gly1066Val	missense variant	-	NC_000002.12:g.227050085C>A	ExAC,gnomAD
rs1333536476	p.Gly1066Ter	stop gained	-	NC_000002.12:g.227050086C>A	TOPMed
rs1392922149	p.Ala1067Gly	missense variant	-	NC_000002.12:g.227050082G>C	gnomAD
COSM1326376	p.Gly1072Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.227050068C>A	NCI-TCGA Cosmic
rs1192591713	p.Gly1072Arg	missense variant	-	NC_000002.12:g.227050068C>T	gnomAD
rs1295713821	p.Gly1072Glu	missense variant	-	NC_000002.12:g.227047549C>T	gnomAD
rs1295713821	p.Gly1072Glu	missense variant	-	NC_000002.12:g.227047549C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asn1073Lys	missense variant	-	NC_000002.12:g.227047545G>C	NCI-TCGA
RCV000018953	p.Gly1075Ter	frameshift	Benign familial hematuria (BFH)	NC_000002.12:g.227047544dup	ClinVar
NCI-TCGA novel	p.Gly1075Asp	missense variant	-	NC_000002.12:g.227047540C>T	NCI-TCGA
NCI-TCGA novel	p.Gly1075Ser	missense variant	-	NC_000002.12:g.227047541C>T	NCI-TCGA
rs772400302	p.Asp1076Ala	missense variant	-	NC_000002.12:g.227047537T>G	ExAC,gnomAD
RCV000604963	p.Ala1078Val	missense variant	-	NC_000002.12:g.227047531G>A	ClinVar
rs77277077	p.Ala1078Thr	missense variant	-	NC_000002.12:g.227047532C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs79143859	p.Ala1078Val	missense variant	-	NC_000002.12:g.227047531G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs768632760	p.Ser1079Gly	missense variant	-	NC_000002.12:g.227047529T>C	ExAC,gnomAD
rs1346643218	p.Ser1079Asn	missense variant	-	NC_000002.12:g.227047528C>T	gnomAD
NCI-TCGA novel	p.Pro1083Thr	missense variant	-	NC_000002.12:g.227047517G>T	NCI-TCGA
rs1248447789	p.Pro1083Leu	missense variant	-	NC_000002.12:g.227047516G>A	TOPMed,gnomAD
rs1412136320	p.Pro1084Leu	missense variant	-	NC_000002.12:g.227047513G>A	TOPMed
rs1286834392	p.Pro1086Ser	missense variant	-	NC_000002.12:g.227047508G>A	TOPMed
rs745770378	p.Lys1087Thr	missense variant	-	NC_000002.12:g.227047504T>G	ExAC,gnomAD
rs1328768228	p.Glu1089Lys	missense variant	-	NC_000002.12:g.227047499C>T	TOPMed
rs908532580	p.Cys1095Trp	missense variant	-	NC_000002.12:g.227047479A>C	TOPMed,gnomAD
rs1257866975	p.Cys1095Tyr	missense variant	-	NC_000002.12:g.227047480C>T	TOPMed
rs1430145246	p.Phe1099Ser	missense variant	-	NC_000002.12:g.227043178A>G	TOPMed,gnomAD
rs1229097842	p.Gly1100Arg	missense variant	-	NC_000002.12:g.227043176C>G	gnomAD
RCV000666144	p.Gly1103Arg	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227043167C>T	ClinVar
rs780160887	p.Gly1103Glu	missense variant	-	NC_000002.12:g.227043166C>T	ExAC,gnomAD
rs749299357	p.Gly1103Arg	missense variant	-	NC_000002.12:g.227043167C>T	ExAC,TOPMed,gnomAD
rs780160887	p.Gly1103Ala	missense variant	-	NC_000002.12:g.227043166C>G	ExAC,gnomAD
rs777474133	p.Glu1104Asp	missense variant	-	NC_000002.12:g.227043162C>G	ExAC,TOPMed,gnomAD
rs781622589	p.Glu1104Gln	missense variant	-	NC_000002.12:g.227043164C>G	TOPMed
rs770845937	p.Glu1104Ala	missense variant	-	NC_000002.12:g.227043163T>G	ExAC,gnomAD
rs781622589	p.Glu1104Lys	missense variant	-	NC_000002.12:g.227043164C>T	TOPMed
rs777474133	p.Glu1104Asp	missense variant	-	NC_000002.12:g.227043162C>A	ExAC,TOPMed,gnomAD
RCV000710845	p.Gly1106Asp	missense variant	-	NC_000002.12:g.227043157C>T	ClinVar
rs1468072598	p.Gly1106Ser	missense variant	-	NC_000002.12:g.227043158C>T	gnomAD
rs371595632	p.Ile1110Val	missense variant	-	NC_000002.12:g.227043146T>C	ESP,ExAC,TOPMed,gnomAD
COSM3578388	p.Gln1111Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.227043143G>A	NCI-TCGA Cosmic
COSM260231	p.Gly1115Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.227043131C>A	NCI-TCGA Cosmic
COSM1017287	p.Pro1117His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227043124G>T	NCI-TCGA Cosmic
rs1295322368	p.Pro1117Leu	missense variant	-	NC_000002.12:g.227043124G>A	gnomAD
rs77170039	p.Gly1118Arg	missense variant	-	NC_000002.12:g.227043122C>T	1000Genomes,gnomAD
rs754697085	p.Arg1119Ser	missense variant	-	NC_000002.12:g.227043117C>G	ExAC,TOPMed,gnomAD
rs1323096940	p.Arg1119Thr	missense variant	-	NC_000002.12:g.227043118C>G	TOPMed,gnomAD
rs778458961	p.Arg1119Gly	missense variant	-	NC_000002.12:g.227043119T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly1121Arg	missense variant	-	NC_000002.12:g.227043113C>T	NCI-TCGA
rs1433426991	p.Pro1122Thr	missense variant	-	NC_000002.12:g.227043110G>T	TOPMed,gnomAD
rs912045008	p.Pro1122Leu	missense variant	-	NC_000002.12:g.227043109G>A	TOPMed,gnomAD
rs753264064	p.Pro1123Leu	missense variant	-	NC_000002.12:g.227043106G>A	NCI-TCGA,NCI-TCGA Cosmic
rs753264064	p.Pro1123Leu	missense variant	-	NC_000002.12:g.227043106G>A	ExAC,gnomAD
rs955111226	p.Gly1124Ser	missense variant	-	NC_000002.12:g.227043104C>T	TOPMed
COSM3909725	p.Ser1125Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227043100G>A	NCI-TCGA Cosmic
rs766044583	p.Ser1125Tyr	missense variant	-	NC_000002.12:g.227043100G>T	ExAC,gnomAD
rs756683938	p.Ser1126Thr	missense variant	-	NC_000002.12:g.227043098A>T	ExAC,gnomAD
rs750980978	p.Ser1126Phe	missense variant	-	NC_000002.12:g.227043097G>A	ExAC,gnomAD
COSM1017286	p.Gly1127Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227043094C>T	NCI-TCGA Cosmic
rs762116418	p.Pro1129Arg	missense variant	-	NC_000002.12:g.227043088G>C	ExAC,TOPMed,gnomAD
rs762116418	p.Pro1129Leu	missense variant	-	NC_000002.12:g.227043088G>A	ExAC,TOPMed,gnomAD
rs1178969462	p.Cys1131Phe	missense variant	-	NC_000002.12:g.227043082C>A	gnomAD
rs367878725	p.Pro1132Ala	missense variant	-	NC_000002.12:g.227043080G>C	ESP,gnomAD
rs367878725	p.Pro1132Ser	missense variant	-	NC_000002.12:g.227043080G>A	ESP,gnomAD
VAR_031626	p.Pro1132Leu	Missense	Hematuria, benign familial (BFH) [MIM:141200]	-	UniProt
rs1417361503	p.Asp1134Gly	missense variant	-	NC_000002.12:g.227042252T>C	gnomAD
rs749015646	p.Gly1136Arg	missense variant	-	NC_000002.12:g.227042247C>G	ExAC,gnomAD
rs779653241	p.Gly1136Ala	missense variant	-	NC_000002.12:g.227042246C>G	ExAC,TOPMed,gnomAD
rs749015646	p.Gly1136Arg	missense variant	-	NC_000002.12:g.227042247C>T	ExAC,gnomAD
rs1255850500	p.Leu1140Val	missense variant	-	NC_000002.12:g.227042235G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Gly1142AspPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.227042228C>-	NCI-TCGA
NCI-TCGA novel	p.Pro1144Leu	missense variant	-	NC_000002.12:g.227042222G>A	NCI-TCGA
rs1197869884	p.Pro1144Ser	missense variant	-	NC_000002.12:g.227042223G>A	TOPMed
rs1260916310	p.Gly1145Glu	missense variant	-	NC_000002.12:g.227042219C>T	TOPMed,gnomAD
rs1223467343	p.Met1147Ile	missense variant	-	NC_000002.12:g.227042212C>T	TOPMed
rs1240622081	p.Met1147Leu	missense variant	-	NC_000002.12:g.227042214T>G	TOPMed,gnomAD
rs768108632	p.Asp1149Glu	missense variant	-	NC_000002.12:g.227042206G>T	ExAC,gnomAD
rs371803356	p.Gly1151Ala	missense variant	-	NC_000002.12:g.227042201C>G	ESP,ExAC,TOPMed,gnomAD
rs899227425	p.Gly1151Arg	missense variant	-	NC_000002.12:g.227042202C>T	TOPMed,gnomAD
rs775698697	p.Gly1154Asp	missense variant	-	NC_000002.12:g.227042192C>T	ExAC,TOPMed,gnomAD
rs1476281366	p.Leu1155Phe	missense variant	-	NC_000002.12:g.227042190G>A	TOPMed
COSM3578386	p.Gly1157Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227042184C>T	NCI-TCGA Cosmic
rs1451789108	p.Gly1157Val	missense variant	-	NC_000002.12:g.227042183C>A	gnomAD
COSM3047036	p.Asp1158Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227042181C>T	NCI-TCGA Cosmic
COSM4941120	p.Asp1158Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227042181C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp1158IlePheSerTerUnkUnk	frameshift	-	NC_000002.12:g.227042181C>-	NCI-TCGA
rs1395462000	p.Pro1159Ser	missense variant	-	NC_000002.12:g.227042178G>A	NCI-TCGA
rs1395462000	p.Pro1159Ser	missense variant	-	NC_000002.12:g.227042178G>A	TOPMed
COSM3909724	p.Gly1160Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227042174C>T	NCI-TCGA Cosmic
rs1247108959	p.Pro1162Leu	missense variant	-	NC_000002.12:g.227042168G>A	gnomAD
NCI-TCGA novel	p.Pro1164Thr	missense variant	-	NC_000002.12:g.227042163G>T	NCI-TCGA
NCI-TCGA novel	p.Pro1165Thr	missense variant	-	NC_000002.12:g.227042160G>T	NCI-TCGA
rs374343979	p.Pro1165Leu	missense variant	-	NC_000002.12:g.227042159G>A	ESP,ExAC,TOPMed,gnomAD
COSM5908080	p.Gly1166Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227042156C>T	NCI-TCGA Cosmic
rs1447917919	p.Gly1169Ser	missense variant	-	NC_000002.12:g.227042148C>T	gnomAD
COSM3578385	p.Pro1170Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227033479G>T	NCI-TCGA Cosmic
rs774368416	p.Pro1170Arg	missense variant	-	NC_000002.12:g.227033478G>C	ExAC,gnomAD
rs370914840	p.Ser1171Cys	missense variant	-	NC_000002.12:g.227033475G>C	ESP,ExAC,TOPMed,gnomAD
rs1364773011	p.Gly1172Ter	stop gained	-	NC_000002.12:g.227033473C>A	TOPMed,gnomAD
rs1364773011	p.Gly1172Arg	missense variant	-	NC_000002.12:g.227033473C>T	TOPMed,gnomAD
rs1364773011	p.Gly1172Arg	missense variant	-	NC_000002.12:g.227033473C>G	TOPMed,gnomAD
rs1483793897	p.Ser1173Leu	missense variant	-	NC_000002.12:g.227033469G>A	TOPMed
COSM70258	p.Pro1174Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227033466G>A	NCI-TCGA Cosmic
rs1304413396	p.Pro1174Ser	missense variant	-	NC_000002.12:g.227033467G>A	gnomAD
rs769559810	p.Gly1175Ser	missense variant	-	NC_000002.12:g.227033464C>T	ExAC,gnomAD
rs780504632	p.Gly1178Ser	missense variant	-	NC_000002.12:g.227033455C>T	ExAC,TOPMed,gnomAD
rs1166551481	p.His1180Asn	missense variant	-	NC_000002.12:g.227033449G>T	gnomAD
rs1474988306	p.His1180Gln	missense variant	-	NC_000002.12:g.227033447A>T	TOPMed
NCI-TCGA novel	p.Leu1182Phe	missense variant	-	NC_000002.12:g.227033441C>A	NCI-TCGA
rs1389215539	p.Leu1182Phe	missense variant	-	NC_000002.12:g.227033441C>G	TOPMed,gnomAD
rs527832060	p.Leu1182Ter	stop gained	-	NC_000002.12:g.227033442A>T	1000Genomes,ExAC,gnomAD
rs374638599	p.Lys1183Arg	missense variant	-	NC_000002.12:g.227033439T>C	ESP,ExAC,gnomAD
rs1455243860	p.Lys1186Arg	missense variant	-	NC_000002.12:g.227033430T>C	gnomAD
COSM3909723	p.Gly1187Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227033428C>T	NCI-TCGA Cosmic
rs1197476541	p.Gly1187Val	missense variant	-	NC_000002.12:g.227033427C>A	gnomAD
rs1274978546	p.Gly1190Asp	missense variant	-	NC_000002.12:g.227033418C>T	gnomAD
rs758940930	p.Gly1190Cys	missense variant	-	NC_000002.12:g.227033419C>A	ExAC,gnomAD
rs758940930	p.Gly1190Ser	missense variant	-	NC_000002.12:g.227033419C>T	ExAC,gnomAD
rs1193908235	p.Ala1191Val	missense variant	-	NC_000002.12:g.227033415G>A	gnomAD
RCV000710847	p.Gly1193Cys	missense variant	-	NC_000002.12:g.227033410C>A	ClinVar
rs776364771	p.Gly1193Val	missense variant	-	NC_000002.12:g.227032276C>A	ExAC,gnomAD
rs1158350974	p.Gly1193Arg	missense variant	-	NC_000002.12:g.227033410C>G	TOPMed
rs554736387	p.Leu1194Ser	missense variant	-	NC_000002.12:g.227032273A>G	1000Genomes,ExAC,gnomAD
rs746500135	p.His1195Tyr	missense variant	-	NC_000002.12:g.227032271G>A	ExAC,gnomAD
NCI-TCGA novel	p.Asp1196Tyr	missense variant	-	NC_000002.12:g.227032268C>A	NCI-TCGA
rs946572297	p.Val1197Ala	missense variant	-	NC_000002.12:g.227032264A>G	TOPMed
rs1278360882	p.Gly1198Arg	missense variant	-	NC_000002.12:g.227032262C>T	NCI-TCGA
rs1278360882	p.Gly1198Arg	missense variant	-	NC_000002.12:g.227032262C>T	gnomAD
rs1315209980	p.Gly1201Asp	missense variant	-	NC_000002.12:g.227032252C>T	gnomAD
RCV000018947	p.Gly1201Ser	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227032253C>T	ClinVar
rs121912858	p.Gly1201Ser	missense variant	-	NC_000002.12:g.227032253C>T	-
rs121912858	p.Gly1201Ser	missense variant	Alport syndrome 2, autosomal recessive (ATS2)	NC_000002.12:g.227032253C>T	UniProt,dbSNP
VAR_001913	p.Gly1201Ser	missense variant	Alport syndrome 2, autosomal recessive (ATS2)	NC_000002.12:g.227032253C>T	UniProt
rs779182761	p.Pro1202Leu	missense variant	-	NC_000002.12:g.227032249G>A	ExAC,TOPMed,gnomAD
rs377266142	p.Val1203Ala	missense variant	-	NC_000002.12:g.227032246A>G	ESP,ExAC,TOPMed,gnomAD
COSM3578383	p.Gly1204Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227032243C>T	NCI-TCGA Cosmic
rs780290586	p.Leu1208Val	missense variant	-	NC_000002.12:g.227032232G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu1211Asp	missense variant	-	NC_000002.12:g.227032221C>G	NCI-TCGA
rs1472238633	p.Glu1211Ala	missense variant	-	NC_000002.12:g.227032222T>G	gnomAD
rs750501128	p.Glu1211Lys	missense variant	-	NC_000002.12:g.227032223C>T	ExAC,TOPMed,gnomAD
rs767770757	p.Glu1211Asp	missense variant	-	NC_000002.12:g.227032221C>A	ExAC,TOPMed,gnomAD
rs374164087	p.Arg1212Gly	missense variant	-	NC_000002.12:g.227032220T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000735722	p.Gly1213Val	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227032216C>A	ClinVar
rs1213324947	p.Asp1214Glu	missense variant	-	NC_000002.12:g.227032212G>T	TOPMed
rs765071781	p.Pro1215Ser	missense variant	-	NC_000002.12:g.227032211G>A	NCI-TCGA,NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro1215Thr	missense variant	-	NC_000002.12:g.227032211G>T	NCI-TCGA
rs189847470	p.Pro1215Leu	missense variant	-	NC_000002.12:g.227032210G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs765071781	p.Pro1215Ser	missense variant	-	NC_000002.12:g.227032211G>A	ExAC,gnomAD
rs1448886711	p.Pro1218Ser	missense variant	-	NC_000002.12:g.227032202G>A	gnomAD
NCI-TCGA novel	p.Gly1219Ter	stop gained	-	NC_000002.12:g.227032199C>A	NCI-TCGA
rs766035577	p.Ile1220Val	missense variant	-	NC_000002.12:g.227032196T>C	ExAC,gnomAD
rs377230950	p.Pro1222Leu	missense variant	-	NC_000002.12:g.227032189G>A	ESP,ExAC,TOPMed,gnomAD
rs748597555	p.Pro1223Leu	missense variant	-	NC_000002.12:g.227032186G>A	ExAC,TOPMed,gnomAD
rs771575941	p.Pro1223Ser	missense variant	-	NC_000002.12:g.227032187G>A	ExAC,gnomAD
rs1431031337	p.Pro1225Leu	missense variant	-	NC_000002.12:g.227032180G>A	TOPMed,gnomAD
rs769191749	p.Arg1226Gly	missense variant	-	NC_000002.12:g.227032178G>C	ExAC,TOPMed,gnomAD
rs769191749	p.Arg1226Cys	missense variant	-	NC_000002.12:g.227032178G>A	ExAC,TOPMed,gnomAD
rs751169399	p.Arg1226His	missense variant	-	NC_000002.12:g.227032177C>T	ExAC,TOPMed,gnomAD
rs769191749	p.Arg1226Cys	missense variant	-	NC_000002.12:g.227032178G>A	NCI-TCGA
rs1456222789	p.Lys1228Met	missense variant	-	NC_000002.12:g.227032171T>A	gnomAD
rs756353061	p.Lys1229Arg	missense variant	-	NC_000002.12:g.227032168T>C	ExAC,gnomAD
COSM1405931	p.Gly1230ValPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.227032170C>-	NCI-TCGA Cosmic
rs781360383	p.Gly1230Ser	missense variant	-	NC_000002.12:g.227032166C>T	NCI-TCGA,NCI-TCGA Cosmic
rs781360383	p.Gly1230Ser	missense variant	-	NC_000002.12:g.227032166C>T	ExAC
NCI-TCGA novel	p.Pro1231Ser	missense variant	-	NC_000002.12:g.227032163G>A	NCI-TCGA
NCI-TCGA novel	p.Pro1232Ser	missense variant	-	NC_000002.12:g.227032160G>A	NCI-TCGA
NCI-TCGA novel	p.Gly1233Glu	missense variant	-	NC_000002.12:g.227032156C>T	NCI-TCGA
rs757430966	p.Pro1234Ser	missense variant	-	NC_000002.12:g.227032154G>A	NCI-TCGA,NCI-TCGA Cosmic
rs757430966	p.Pro1234Ser	missense variant	-	NC_000002.12:g.227032154G>A	ExAC,gnomAD
RCV000018948	p.Ser1238Ter	nonsense	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227032049G>T	ClinVar
rs121912859	p.Ser1238Ter	stop gained	-	NC_000002.12:g.227032049G>T	-
rs1394140383	p.Gly1239Ala	missense variant	-	NC_000002.12:g.227032046C>G	TOPMed
NCI-TCGA novel	p.Pro1240Leu	missense variant	-	NC_000002.12:g.227032043G>A	NCI-TCGA
rs1429970817	p.Pro1240Thr	missense variant	-	NC_000002.12:g.227032044G>T	TOPMed
rs781591540	p.Pro1241Leu	missense variant	-	NC_000002.12:g.227032040G>A	ExAC,gnomAD
rs746049853	p.Pro1241Ser	missense variant	-	NC_000002.12:g.227032041G>A	ExAC,gnomAD
NCI-TCGA novel	p.Pro1243Leu	missense variant	-	NC_000002.12:g.227032034G>A	NCI-TCGA
NCI-TCGA novel	p.Pro1243Ser	missense variant	-	NC_000002.12:g.227032035G>A	NCI-TCGA
rs946603420	p.Ala1244Thr	missense variant	-	NC_000002.12:g.227032032C>T	TOPMed,gnomAD
rs1189502123	p.Gly1245Val	missense variant	-	NC_000002.12:g.227032028C>A	TOPMed,gnomAD
RCV000516720	p.Gly1245Val	missense variant	-	NC_000002.12:g.227032028C>A	ClinVar
rs548799639	p.Gly1248Glu	missense variant	-	NC_000002.12:g.227032019C>T	NCI-TCGA,NCI-TCGA Cosmic
rs867439682	p.Gly1248Arg	missense variant	-	NC_000002.12:g.227032020C>T	NCI-TCGA Cosmic
rs548799639	p.Gly1248Glu	missense variant	-	NC_000002.12:g.227032019C>T	ExAC,TOPMed,gnomAD
rs867439682	p.Gly1248Arg	missense variant	-	NC_000002.12:g.227032020C>T	-
rs778059619	p.Arg1249Ser	missense variant	-	NC_000002.12:g.227032015T>G	ExAC,gnomAD
rs1207127546	p.Pro1251Ser	missense variant	-	NC_000002.12:g.227032011G>A	gnomAD
COSM1482817	p.Pro1255Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227031999G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro1255Ala	missense variant	-	NC_000002.12:g.227031999G>C	NCI-TCGA
rs1340467301	p.Pro1255Leu	missense variant	-	NC_000002.12:g.227031998G>A	gnomAD
rs1272126046	p.Asp1256Asn	missense variant	-	NC_000002.12:g.227031996C>T	gnomAD
rs1227212275	p.Asp1256Glu	missense variant	-	NC_000002.12:g.227031994G>C	gnomAD
RCV000380424	p.Pro1257Leu	missense variant	Alport syndrome	NC_000002.12:g.227031992G>A	ClinVar
rs755884665	p.Pro1257Leu	missense variant	-	NC_000002.12:g.227031992G>A	ExAC,TOPMed,gnomAD
rs374113580	p.Pro1257Ser	missense variant	-	NC_000002.12:g.227031993G>A	ESP,ExAC,TOPMed,gnomAD
rs374113580	p.Pro1257Thr	missense variant	-	NC_000002.12:g.227031993G>T	ESP,ExAC,TOPMed,gnomAD
rs755884665	p.Pro1257Arg	missense variant	-	NC_000002.12:g.227031992G>C	ExAC,TOPMed,gnomAD
rs374113580	p.Pro1257Ala	missense variant	-	NC_000002.12:g.227031993G>C	ESP,ExAC,TOPMed,gnomAD
rs750038586	p.Gly1258Arg	missense variant	-	NC_000002.12:g.227031990C>G	ExAC,gnomAD
rs1370656313	p.Pro1259Ser	missense variant	-	NC_000002.12:g.227031987G>A	TOPMed
COSM4092064	p.Pro1260Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227031984G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly1261Val	missense variant	-	NC_000002.12:g.227031980C>A	NCI-TCGA
rs1444188086	p.Asp1262His	missense variant	-	NC_000002.12:g.227031978C>G	gnomAD
COSM221983	p.Gln1263Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.227031975G>A	NCI-TCGA Cosmic
rs1368476351	p.Gln1263Arg	missense variant	-	NC_000002.12:g.227031974T>C	gnomAD
NCI-TCGA novel	p.Gly1264Glu	missense variant	-	NC_000002.12:g.227031971C>T	NCI-TCGA
rs371915593	p.Gly1264Val	missense variant	-	NC_000002.12:g.227031971C>A	ESP,ExAC,TOPMed,gnomAD
rs751062903	p.Pro1265Ser	missense variant	-	NC_000002.12:g.227031969G>A	ExAC,TOPMed,gnomAD
rs763515232	p.Asp1269His	missense variant	-	NC_000002.12:g.227031957C>G	ExAC,TOPMed,gnomAD
rs530188385	p.Asp1269Gly	missense variant	-	NC_000002.12:g.227031956T>C	1000Genomes,TOPMed,gnomAD
rs368414659	p.Pro1271Gln	missense variant	-	NC_000002.12:g.227031950G>T	ESP,ExAC,TOPMed,gnomAD
COSM3578377	p.Gly1273Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227030598C>T	NCI-TCGA Cosmic
rs1482757506	p.Gly1273Arg	missense variant	-	NC_000002.12:g.227031945C>T	gnomAD
rs757873496	p.Ala1274Glu	missense variant	-	NC_000002.12:g.227030595G>T	ExAC,TOPMed,gnomAD
rs757873496	p.Ala1274Val	missense variant	-	NC_000002.12:g.227030595G>A	ExAC,TOPMed,gnomAD
rs752287593	p.Pro1275Ala	missense variant	-	NC_000002.12:g.227030593G>C	ExAC,gnomAD
rs1260825949	p.Pro1275Arg	missense variant	-	NC_000002.12:g.227030592G>C	gnomAD
rs752287593	p.Pro1275Ser	missense variant	-	NC_000002.12:g.227030593G>A	ExAC,gnomAD
rs752287593	p.Pro1275Thr	missense variant	-	NC_000002.12:g.227030593G>T	ExAC,gnomAD
RCV000625552	p.Pro1277Ser	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227030587G>A	ClinVar
rs1037084154	p.Pro1277Ser	missense variant	-	NC_000002.12:g.227030587G>A	TOPMed
RCV000625680	p.Gly1279Ter	frameshift	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227030582dup	ClinVar
rs1476400266	p.Leu1280Phe	missense variant	-	NC_000002.12:g.227030578G>A	TOPMed
rs760182467	p.Leu1280His	missense variant	-	NC_000002.12:g.227030577A>T	ExAC,gnomAD
COSM720457	p.Pro1281Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227030575G>T	NCI-TCGA Cosmic
rs777134408	p.Gly1282Arg	missense variant	-	NC_000002.12:g.227030572C>T	ExAC,gnomAD
RCV000673569	p.Ser1283Arg	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227030567A>T	ClinVar
rs1395689063	p.Ser1283Asn	missense variant	-	NC_000002.12:g.227030568C>T	TOPMed,gnomAD
rs1553625644	p.Ser1283Arg	missense variant	-	NC_000002.12:g.227030567A>T	-
rs1310236431	p.Ser1283Arg	missense variant	-	NC_000002.12:g.227030569T>G	gnomAD
rs539288541	p.Asp1285Tyr	missense variant	-	NC_000002.12:g.227030563C>A	1000Genomes,ExAC,gnomAD
rs1290745310	p.Leu1286Phe	missense variant	-	NC_000002.12:g.227030560G>A	gnomAD
rs571869797	p.Leu1287Val	missense variant	-	NC_000002.12:g.227030557G>C	1000Genomes,ExAC,TOPMed,gnomAD
RCV000681861	p.Arg1288Ter	frameshift	-	NC_000002.12:g.227030554_227030555insGA	ClinVar
rs772151223	p.Gly1289Ala	missense variant	-	NC_000002.12:g.227030550C>G	ExAC,gnomAD
rs865923173	p.Glu1290Lys	missense variant	-	NC_000002.12:g.227030548C>T	NCI-TCGA
rs865923173	p.Glu1290Lys	missense variant	-	NC_000002.12:g.227030548C>T	TOPMed
rs34728338	p.Pro1291Ala	missense variant	-	NC_000002.12:g.227030545G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000735720	p.Gly1292Asp	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227030541C>T	ClinVar
rs971779449	p.Gly1292Asp	missense variant	-	NC_000002.12:g.227030541C>T	TOPMed
COSM4831293	p.Asp1293Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227030539C>T	NCI-TCGA Cosmic
RCV000735742	p.Asp1293Gly	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227030538T>C	ClinVar
NCI-TCGA novel	p.Gly1295Cys	missense variant	-	NC_000002.12:g.227030533C>A	NCI-TCGA
rs1367092134	p.Gly1295Val	missense variant	-	NC_000002.12:g.227030532C>A	TOPMed,gnomAD
rs769717906	p.Pro1297Arg	missense variant	-	NC_000002.12:g.227030526G>C	ExAC,TOPMed,gnomAD
rs769717906	p.Pro1297Leu	missense variant	-	NC_000002.12:g.227030526G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro1299Ser	missense variant	-	NC_000002.12:g.227030521G>A	NCI-TCGA
rs1397570837	p.Pro1299Thr	missense variant	-	NC_000002.12:g.227030521G>T	TOPMed
rs780906076	p.Gly1301Val	missense variant	-	NC_000002.12:g.227030514C>A	ExAC,gnomAD
rs780906076	p.Gly1301Asp	missense variant	-	NC_000002.12:g.227030514C>T	ExAC,gnomAD
NCI-TCGA novel	p.Pro1302Leu	missense variant	-	NC_000002.12:g.227030511G>A	NCI-TCGA
rs1317824051	p.Pro1303Ser	missense variant	-	NC_000002.12:g.227030509G>A	TOPMed
rs1267498600	p.Pro1303Leu	missense variant	-	NC_000002.12:g.227030508G>A	gnomAD
COSM1017285	p.Gly1304Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227030505C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly1304Asp	missense variant	-	NC_000002.12:g.227030505C>T	NCI-TCGA
rs746621296	p.Pro1305Leu	missense variant	-	NC_000002.12:g.227030502G>A	ExAC,TOPMed,gnomAD
rs757063002	p.Pro1305Ala	missense variant	-	NC_000002.12:g.227030503G>C	ExAC,gnomAD
NCI-TCGA novel	p.Gly1307Asp	missense variant	-	NC_000002.12:g.227030496C>T	NCI-TCGA
rs1327291312	p.Pro1308Leu	missense variant	-	NC_000002.12:g.227030493G>A	gnomAD
COSM3909722	p.Pro1309Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227030491G>A	NCI-TCGA Cosmic
COSM720458	p.Gly1310Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227030488C>T	NCI-TCGA Cosmic
rs1433065763	p.Tyr1311Ter	stop gained	-	NC_000002.12:g.227030483G>T	gnomAD
rs1433065763	p.Tyr1311Ter	stop gained	-	NC_000002.12:g.227030483G>C	gnomAD
rs1209789082	p.Gly1313Cys	missense variant	-	NC_000002.12:g.227030479C>A	gnomAD
COSM228901	p.Pro1315Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227030473G>A	NCI-TCGA Cosmic
rs1466510291	p.Pro1315Leu	missense variant	-	NC_000002.12:g.227030472G>A	gnomAD
COSM3909721	p.Gly1319Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227030460C>T	NCI-TCGA Cosmic
rs1326584789	p.Asp1321His	missense variant	-	NC_000002.12:g.227030455C>G	TOPMed,gnomAD
RCV000673590	p.Gln1323Ter	nonsense	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227030449G>A	ClinVar
rs1489351299	p.Gln1323Ter	stop gained	-	NC_000002.12:g.227030449G>A	TOPMed
rs764872559	p.Gly1325Arg	missense variant	-	NC_000002.12:g.227030443C>G	ExAC,TOPMed,gnomAD
RCV000669402	p.Pro1326Thr	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227028007G>T	ClinVar
rs754359129	p.Pro1326Thr	missense variant	-	NC_000002.12:g.227028007G>T	ExAC,gnomAD
rs1466958282	p.Pro1326Arg	missense variant	-	NC_000002.12:g.227028006G>C	TOPMed
RCV000171504	p.Val1327Met	missense variant	-	NC_000002.12:g.227028004C>T	ClinVar
RCV000246048	p.Val1327Met	missense variant	-	NC_000002.12:g.227028004C>T	ClinVar
rs2229813	p.Val1327Leu	missense variant	-	NC_000002.12:g.227028004C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs2229813	p.Val1327Met	missense variant	-	NC_000002.12:g.227028004C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000271269	p.Val1327Met	missense variant	Alport syndrome	NC_000002.12:g.227028004C>T	ClinVar
COSM3578376	p.Gly1328Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227028000C>T	NCI-TCGA Cosmic
RCV000664545	p.Gly1328Ala	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227028000C>G	ClinVar
rs1553624173	p.Gly1328Ala	missense variant	-	NC_000002.12:g.227028000C>G	-
rs201578201	p.Pro1330Leu	missense variant	-	NC_000002.12:g.227027994G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200860702	p.Pro1332Gln	missense variant	-	NC_000002.12:g.227027988G>T	ESP,ExAC,TOPMed,gnomAD
rs200860702	p.Pro1332Leu	missense variant	-	NC_000002.12:g.227027988G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln1333His	missense variant	-	NC_000002.12:g.227027984C>A	NCI-TCGA
RCV000668833	p.Pro1335Ala	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227027980G>C	ClinVar
rs1331634432	p.Pro1335Ala	missense variant	-	NC_000002.12:g.227027980G>C	TOPMed
rs1331634432	p.Pro1335Ser	missense variant	-	NC_000002.12:g.227027980G>A	TOPMed
RCV000670267	p.His1336Ter	frameshift	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227027978_227027981dup	ClinVar
rs764116548	p.His1336Arg	missense variant	-	NC_000002.12:g.227027976T>C	ExAC,TOPMed,gnomAD
COSM5922145	p.Pro1339Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227027968G>A	NCI-TCGA Cosmic
rs1240399600	p.Gly1340Glu	missense variant	-	NC_000002.12:g.227027964C>T	gnomAD
RCV000670328	p.Pro1341Thr	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227027962G>T	ClinVar
rs775592135	p.Pro1341Gln	missense variant	-	NC_000002.12:g.227027961G>T	ExAC,gnomAD
rs539867676	p.Pro1341Thr	missense variant	-	NC_000002.12:g.227027962G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1453250949	p.Pro1342Arg	missense variant	-	NC_000002.12:g.227027958G>C	TOPMed,gnomAD
rs1453250949	p.Pro1342Leu	missense variant	-	NC_000002.12:g.227027958G>A	TOPMed,gnomAD
rs1350561484	p.Gly1343Ala	missense variant	-	NC_000002.12:g.227027955C>G	gnomAD
rs1409570670	p.Lys1345Thr	missense variant	-	NC_000002.12:g.227027949T>G	gnomAD
rs1369617472	p.Lys1345Asn	missense variant	-	NC_000002.12:g.227027948C>G	gnomAD
RCV000670055	p.Lys1345Asn	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227027948C>G	ClinVar
rs1409570670	p.Lys1345Met	missense variant	-	NC_000002.12:g.227027949T>A	gnomAD
rs770838029	p.Gly1346Cys	missense variant	-	NC_000002.12:g.227027947C>A	ExAC,gnomAD
rs933331654	p.Gly1346Val	missense variant	-	NC_000002.12:g.227027946C>A	TOPMed,gnomAD
rs16823077	p.Leu1347Phe	missense variant	-	NC_000002.12:g.227027942T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000671641	p.Leu1347Phe	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227027942T>A	ClinVar
RCV000669928	p.Pro1350Leu	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227027934G>A	ClinVar
rs771916354	p.Pro1350Leu	missense variant	-	NC_000002.12:g.227027934G>A	ExAC,TOPMed,gnomAD
rs1010057124	p.Pro1350Ser	missense variant	-	NC_000002.12:g.227027935G>A	TOPMed
rs895648453	p.Pro1351Ala	missense variant	-	NC_000002.12:g.227027932G>C	TOPMed
rs747708741	p.Arg1353Lys	missense variant	-	NC_000002.12:g.227027925C>T	ExAC,gnomAD
RCV000670002	p.Arg1353Lys	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227027925C>T	ClinVar
rs747708741	p.Arg1353Lys	missense variant	-	NC_000002.12:g.227027925C>T	NCI-TCGA,NCI-TCGA Cosmic
rs1179808279	p.Lys1354Ile	missense variant	-	NC_000002.12:g.227027922T>A	gnomAD
COSM4092063	p.Gly1355Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227027919C>A	NCI-TCGA Cosmic
RCV000625557	p.Gly1355Arg	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227027920C>T	ClinVar
rs1553624029	p.Gly1355Arg	missense variant	-	NC_000002.12:g.227027920C>T	-
rs1202146866	p.Pro1356Ala	missense variant	-	NC_000002.12:g.227027917G>C	TOPMed
rs1472133934	p.Pro1356Leu	missense variant	-	NC_000002.12:g.227027916G>A	gnomAD
RCV000672532	p.Thr1357Ile	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227027913G>A	ClinVar
rs1258564025	p.Thr1357Ile	missense variant	-	NC_000002.12:g.227027913G>A	gnomAD
rs773111563	p.Pro1360Leu	missense variant	-	NC_000002.12:g.227027904G>A	ExAC,gnomAD
rs748786524	p.Gly1361Cys	missense variant	-	NC_000002.12:g.227027902C>A	ExAC,gnomAD
RCV000625562	p.Gly1364Cys	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227025802C>A	ClinVar
rs1553622675	p.Gly1364Cys	missense variant	-	NC_000002.12:g.227025802C>A	-
rs770364064	p.Gly1364Val	missense variant	-	NC_000002.12:g.227022173C>A	ExAC,gnomAD
rs1162000074	p.Glu1365Gly	missense variant	-	NC_000002.12:g.227022170T>C	gnomAD
rs578099704	p.Pro1366Leu	missense variant	-	NC_000002.12:g.227022167G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1456054185	p.Pro1366Ser	missense variant	-	NC_000002.12:g.227022168G>A	gnomAD
rs1424064501	p.Pro1368Leu	missense variant	-	NC_000002.12:g.227022161G>A	gnomAD
COSM3695312	p.Pro1369Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227022159G>T	NCI-TCGA Cosmic
rs748491239	p.Pro1369Arg	missense variant	-	NC_000002.12:g.227022158G>C	ExAC,gnomAD
rs779203537	p.Ala1370Val	missense variant	-	NC_000002.12:g.227022155G>A	ExAC,gnomAD
rs768920533	p.Val1372Met	missense variant	-	NC_000002.12:g.227022150C>T	ExAC,gnomAD
COSM3578373	p.Asp1373Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227022147C>T	NCI-TCGA Cosmic
rs1326928157	p.Asp1373Ala	missense variant	-	NC_000002.12:g.227022146T>G	gnomAD
rs117181365	p.Asp1374Glu	missense variant	-	NC_000002.12:g.227022142G>C	1000Genomes,ExAC,TOPMed,gnomAD
RCV000681886	p.Cys1375Ter	frameshift	-	NC_000002.12:g.227022142del	ClinVar
COSM442415	p.Pro1376Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227022137G>C	NCI-TCGA Cosmic
rs780131074	p.Pro1376Ser	missense variant	-	NC_000002.12:g.227022138G>A	ExAC,gnomAD
RCV000018950	p.Arg1377Ter	nonsense	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227022135G>A	ClinVar
rs559719653	p.Arg1377Gln	missense variant	-	NC_000002.12:g.227022134C>T	NCI-TCGA,NCI-TCGA Cosmic
rs121912861	p.Arg1377Ter	stop gained	-	NC_000002.12:g.227022135G>A	ExAC,TOPMed,gnomAD
rs559719653	p.Arg1377Gln	missense variant	-	NC_000002.12:g.227022134C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000681673	p.Arg1377Ter	nonsense	-	NC_000002.12:g.227022135G>A	ClinVar
RCV000787008	p.Arg1377Ter	nonsense	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227022135G>A	ClinVar
COSM418844	p.Pro1379Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227022128G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro1379Ser	missense variant	-	NC_000002.12:g.227022129G>A	NCI-TCGA
rs1303758821	p.Leu1381Phe	missense variant	-	NC_000002.12:g.227022123G>A	TOPMed,gnomAD
rs1359554403	p.Leu1381Pro	missense variant	-	NC_000002.12:g.227022122A>G	TOPMed
COSM3578372	p.Pro1382Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227022120G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly1383Val	missense variant	-	NC_000002.12:g.227022116C>A	NCI-TCGA
rs199911379	p.Ala1384Val	missense variant	-	NC_000002.12:g.227022113G>A	ESP,ExAC,TOPMed,gnomAD
rs1385235884	p.Ala1384Thr	missense variant	-	NC_000002.12:g.227022114C>T	gnomAD
rs1284160579	p.Pro1385Arg	missense variant	-	NC_000002.12:g.227022110G>C	TOPMed
COSM720460	p.Met1387Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227022104A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg1388Thr	missense variant	-	NC_000002.12:g.227022101C>G	NCI-TCGA
rs1378236626	p.Arg1388Lys	missense variant	-	NC_000002.12:g.227022101C>T	TOPMed
rs759174203	p.Gly1389Glu	missense variant	-	NC_000002.12:g.227022098C>T	ExAC
NCI-TCGA novel	p.Glu1391Lys	missense variant	-	NC_000002.12:g.227022093C>T	NCI-TCGA
RCV000681903	p.Gly1392Ala	missense variant	-	NC_000002.12:g.227022089C>G	ClinVar
NCI-TCGA novel	p.Ala1393Thr	missense variant	-	NC_000002.12:g.227022087C>T	NCI-TCGA
COSM6157242	p.Met1394Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227022082C>T	NCI-TCGA Cosmic
rs1433560212	p.Met1394Leu	missense variant	-	NC_000002.12:g.227022084T>G	TOPMed,gnomAD
NCI-TCGA novel	p.Gly1395Arg	missense variant	-	NC_000002.12:g.227022081C>T	NCI-TCGA
NCI-TCGA novel	p.Gly1395Glu	missense variant	-	NC_000002.12:g.227022080C>T	NCI-TCGA
rs772758486	p.Leu1396Ile	missense variant	-	NC_000002.12:g.227022078G>T	ExAC,gnomAD
rs1353346845	p.Pro1397Ser	missense variant	-	NC_000002.12:g.227022075G>A	TOPMed
rs555333692	p.Gly1398Val	missense variant	-	NC_000002.12:g.227022071C>A	1000Genomes,ExAC,gnomAD
rs555333692	p.Gly1398Ala	missense variant	-	NC_000002.12:g.227022071C>G	1000Genomes,ExAC,gnomAD
RCV000314501	p.Met1399Leu	missense variant	Alport syndrome	NC_000002.12:g.227022069T>A	ClinVar
rs149117087	p.Met1399Leu	missense variant	-	NC_000002.12:g.227022069T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs780107139	p.Arg1400Lys	missense variant	-	NC_000002.12:g.227022065C>T	ExAC,gnomAD
rs749483911	p.Arg1400Gly	missense variant	-	NC_000002.12:g.227022066T>C	ExAC,TOPMed,gnomAD
rs745926070	p.Pro1402Arg	missense variant	-	NC_000002.12:g.227022059G>C	ExAC,gnomAD
rs745926070	p.Pro1402Leu	missense variant	-	NC_000002.12:g.227022059G>A	ExAC,gnomAD
rs745926070	p.Pro1402Leu	missense variant	-	NC_000002.12:g.227022059G>A	NCI-TCGA,NCI-TCGA Cosmic
VAR_008154	p.Pro1402Ser	Missense	-	-	UniProt
RCV000710851	p.Ser1403Pro	missense variant	-	NC_000002.12:g.227022057A>G	ClinVar
RCV000407614	p.Ser1403Pro	missense variant	Alport syndrome	NC_000002.12:g.227022057A>G	ClinVar
RCV000249698	p.Ser1403Pro	missense variant	-	NC_000002.12:g.227022057A>G	ClinVar
rs3752895	p.Ser1403Pro	missense variant	-	NC_000002.12:g.227022057A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly1404Glu	missense variant	-	NC_000002.12:g.227022053C>T	NCI-TCGA
RCV000670286	p.Gly1406Ala	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227012297C>G	ClinVar
rs1441442750	p.Gly1406Arg	missense variant	-	NC_000002.12:g.227022048C>T	TOPMed
rs1364711591	p.Gly1406Ala	missense variant	-	NC_000002.12:g.227012297C>G	TOPMed
rs771160320	p.Gly1409Arg	missense variant	-	NC_000002.12:g.227012289C>T	NCI-TCGA
rs748081832	p.Gly1409Ala	missense variant	-	NC_000002.12:g.227012288C>G	ExAC,TOPMed,gnomAD
rs771160320	p.Gly1409Arg	missense variant	-	NC_000002.12:g.227012289C>T	ExAC,gnomAD
rs1030987912	p.Pro1411Ala	missense variant	-	NC_000002.12:g.227012283G>C	TOPMed
rs201996712	p.Gly1412Glu	missense variant	-	NC_000002.12:g.227012279C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs374946510	p.Asp1414Glu	missense variant	-	NC_000002.12:g.227012272A>T	ESP,ExAC,TOPMed,gnomAD
COSM3578369	p.Gly1415Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227012271C>T	NCI-TCGA Cosmic
rs370734150	p.Arg1416Lys	missense variant	-	NC_000002.12:g.227012267C>T	NCI-TCGA,NCI-TCGA Cosmic
rs370734150	p.Arg1416Lys	missense variant	-	NC_000002.12:g.227012267C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1467555264	p.Arg1417Trp	missense variant	-	NC_000002.12:g.227012265T>A	gnomAD
rs1375833616	p.Arg1417Lys	missense variant	-	NC_000002.12:g.227012264C>T	gnomAD
rs1198485647	p.Gly1418Ala	missense variant	-	NC_000002.12:g.227012261C>G	TOPMed,gnomAD
rs1472788346	p.Gly1421Asp	missense variant	-	NC_000002.12:g.227012252C>T	gnomAD
rs368105222	p.Val1422Ile	missense variant	-	NC_000002.12:g.227012250C>T	NCI-TCGA,NCI-TCGA Cosmic
rs368105222	p.Val1422Ile	missense variant	-	NC_000002.12:g.227012250C>T	1000Genomes,ESP,ExAC,gnomAD
rs1262718137	p.Pro1423Ser	missense variant	-	NC_000002.12:g.227012247G>A	TOPMed
rs756690138	p.Pro1423Arg	missense variant	-	NC_000002.12:g.227012246G>C	ExAC,gnomAD
rs1279460245	p.Gly1424Arg	missense variant	-	NC_000002.12:g.227012244C>T	gnomAD
rs764494474	p.Ser1425Pro	missense variant	-	NC_000002.12:g.227012241A>G	ExAC,TOPMed,gnomAD
rs1263044125	p.Pro1426Ala	missense variant	-	NC_000002.12:g.227012238G>C	TOPMed,gnomAD
rs1025601519	p.Pro1429Ser	missense variant	-	NC_000002.12:g.227012229G>A	TOPMed,gnomAD
rs775926807	p.Gly1430Arg	missense variant	-	NC_000002.12:g.227012226C>T	ExAC,TOPMed,gnomAD
rs536570392	p.Arg1431Cys	missense variant	-	NC_000002.12:g.227012223G>A	NCI-TCGA,NCI-TCGA Cosmic
rs536570392	p.Arg1431Ser	missense variant	-	NC_000002.12:g.227012223G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs777028184	p.Arg1431His	missense variant	-	NC_000002.12:g.227012222C>T	ExAC,TOPMed,gnomAD
rs536570392	p.Arg1431Cys	missense variant	-	NC_000002.12:g.227012223G>A	1000Genomes,ExAC,TOPMed,gnomAD
COSM1017282	p.Gly1433Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227012217C>A	NCI-TCGA Cosmic
rs1553614863	p.Gly1433Asp	missense variant	-	NC_000002.12:g.227012216C>T	-
RCV000671292	p.Gly1433Asp	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227012216C>T	ClinVar
rs373331310	p.Asp1438Glu	missense variant	-	NC_000002.12:g.227012200G>T	ESP,ExAC,TOPMed,gnomAD
RCV000681933	p.Gly1439Ter	frameshift	-	NC_000002.12:g.227012199_227012203dup	ClinVar
rs1175615518	p.Gly1439Asp	missense variant	-	NC_000002.12:g.227012198C>T	gnomAD
rs192942886	p.Pro1441Arg	missense variant	-	NC_000002.12:g.227012192G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs773403188	p.Pro1441Ser	missense variant	-	NC_000002.12:g.227012193G>A	ExAC,gnomAD
rs192942886	p.Pro1441Leu	missense variant	-	NC_000002.12:g.227012192G>A	1000Genomes,ExAC,TOPMed,gnomAD
COSM720462	p.Gly1442Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227012189C>A	NCI-TCGA Cosmic
rs779769090	p.Gly1443Arg	missense variant	-	NC_000002.12:g.227012187C>G	ExAC,gnomAD
rs779769090	p.Gly1443Arg	missense variant	-	NC_000002.12:g.227012187C>T	ExAC,gnomAD
RCV000710853	p.Gly1445Glu	missense variant	-	NC_000002.12:g.227010501C>T	ClinVar
rs775373551	p.Pro1446Leu	missense variant	-	NC_000002.12:g.227010498G>A	ExAC,gnomAD
rs1215595212	p.Pro1447Ser	missense variant	-	NC_000002.12:g.227010496G>A	gnomAD
rs1452546964	p.Pro1449Arg	missense variant	-	NC_000002.12:g.227010489G>C	TOPMed,gnomAD
rs72969704	p.Ile1450Asn	missense variant	-	NC_000002.12:g.227010486A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs72969704	p.Ile1450Thr	missense variant	-	NC_000002.12:g.227010486A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000299569	p.Ile1450Thr	missense variant	Alport syndrome	NC_000002.12:g.227010486A>G	ClinVar
rs1356773062	p.Asp1452Asn	missense variant	-	NC_000002.12:g.227010481C>T	gnomAD
rs1313789894	p.Pro1455Ala	missense variant	-	NC_000002.12:g.227010472G>C	gnomAD
rs770419378	p.Lys1456Arg	missense variant	-	NC_000002.12:g.227010468T>C	ExAC,TOPMed,gnomAD
rs770419378	p.Lys1456Ile	missense variant	-	NC_000002.12:g.227010468T>A	ExAC,TOPMed,gnomAD
rs746683977	p.Gly1457Arg	missense variant	-	NC_000002.12:g.227010466C>G	ExAC,TOPMed,gnomAD
rs746683977	p.Gly1457Arg	missense variant	-	NC_000002.12:g.227010466C>T	ExAC,TOPMed,gnomAD
rs746683977	p.Gly1457Arg	missense variant	-	NC_000002.12:g.227010466C>G	NCI-TCGA,NCI-TCGA Cosmic
rs1189137447	p.Phe1458Val	missense variant	-	NC_000002.12:g.227010463A>C	TOPMed
rs1287040507	p.Gly1459Val	missense variant	-	NC_000002.12:g.227010459C>A	TOPMed,gnomAD
rs777095266	p.Tyr1462Cys	missense variant	-	NC_000002.12:g.227010450T>C	ExAC,TOPMed,gnomAD
rs372558522	p.Gly1464Ser	missense variant	-	NC_000002.12:g.227010445C>T	NCI-TCGA
rs372558522	p.Gly1464Ser	missense variant	-	NC_000002.12:g.227010445C>T	1000Genomes,ESP,ExAC,gnomAD
COSM3578366	p.Gly1465Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227010442C>T	NCI-TCGA Cosmic
RCV000673767	p.Gly1465Asp	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227010441C>T	ClinVar
rs1423011929	p.Gly1465Cys	missense variant	-	NC_000002.12:g.227010442C>A	gnomAD
rs533297350	p.Gly1465Asp	missense variant	-	NC_000002.12:g.227010441C>T	ExAC,TOPMed,gnomAD
rs1459095382	p.Val1469Phe	missense variant	-	NC_000002.12:g.227010430C>A	TOPMed
COSM3578365	p.Leu1470Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227010427G>A	NCI-TCGA Cosmic
rs1478610555	p.His1471Gln	missense variant	-	NC_000002.12:g.227010422G>C	TOPMed,gnomAD
rs754254861	p.His1471Tyr	missense variant	-	NC_000002.12:g.227010424G>A	ExAC,gnomAD
rs766771700	p.Gln1473Lys	missense variant	-	NC_000002.12:g.227010418G>T	ExAC,TOPMed,gnomAD
RCV000625679	p.Gln1473Lys	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227010418G>T	ClinVar
RCV000407621	p.Thr1474Met	missense variant	Alport syndrome	NC_000002.12:g.227010414G>A	ClinVar
rs201615111	p.Thr1474Met	missense variant	-	NC_000002.12:g.227010414G>A	NCI-TCGA,NCI-TCGA Cosmic
rs201615111	p.Thr1474Met	missense variant	-	NC_000002.12:g.227010414G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs767457222	p.Asp1475Tyr	missense variant	-	NC_000002.12:g.227010412C>A	ExAC,gnomAD
RCV000672936	p.Asp1475Tyr	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227010412C>A	ClinVar
RCV000681885	p.Glu1477Ter	nonsense	-	NC_000002.12:g.227010406C>A	ClinVar
rs1367906290	p.Glu1477Lys	missense variant	-	NC_000002.12:g.227010406C>T	TOPMed
rs761857469	p.Pro1478Leu	missense variant	-	NC_000002.12:g.227010402G>A	ExAC,gnomAD
rs774471575	p.Cys1480Ter	stop gained	-	NC_000002.12:g.227010395G>T	ExAC,gnomAD
rs1433385826	p.Pro1481Leu	missense variant	-	NC_000002.12:g.227010393G>A	TOPMed
rs776227562	p.Leu1482Arg	missense variant	-	NC_000002.12:g.227010390A>C	ExAC,TOPMed
rs776227562	p.Leu1482Pro	missense variant	-	NC_000002.12:g.227010390A>G	ExAC,TOPMed
NCI-TCGA novel	p.Gly1483Cys	missense variant	-	NC_000002.12:g.227010388C>A	NCI-TCGA
rs746599360	p.Leu1487Phe	missense variant	-	NC_000002.12:g.227010376G>A	ExAC,gnomAD
rs777452956	p.Trp1488Ser	missense variant	-	NC_000002.12:g.227010372C>G	ExAC,gnomAD
RCV000625691	p.Tyr1491Cys	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227010363T>C	ClinVar
rs771902480	p.Tyr1491His	missense variant	-	NC_000002.12:g.227010364A>G	ExAC,gnomAD
rs1553613772	p.Tyr1491Cys	missense variant	-	NC_000002.12:g.227010363T>C	-
NCI-TCGA novel	p.Tyr1495Asn	missense variant	-	NC_000002.12:g.227010352A>T	NCI-TCGA
rs964039621	p.Leu1496Val	missense variant	-	NC_000002.12:g.227010349G>C	gnomAD
rs1263829643	p.Glu1497Lys	missense variant	-	NC_000002.12:g.227010346C>T	TOPMed
rs778637720	p.Gln1499Glu	missense variant	-	NC_000002.12:g.227010340G>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu1500Asp	missense variant	-	NC_000002.12:g.227010335C>A	NCI-TCGA
rs1197786869	p.Ala1502Pro	missense variant	-	NC_000002.12:g.227010331C>G	TOPMed,gnomAD
rs1022726727	p.Ala1502Gly	missense variant	-	NC_000002.12:g.227010330G>C	gnomAD
rs892576800	p.Asn1504Ile	missense variant	-	NC_000002.12:g.227010324T>A	TOPMed
rs892576800	p.Asn1504Ser	missense variant	-	NC_000002.12:g.227010324T>C	TOPMed
rs780234545	p.Asn1504Tyr	missense variant	-	NC_000002.12:g.227010325T>A	ExAC,gnomAD
rs780234545	p.Asn1504Asp	missense variant	-	NC_000002.12:g.227010325T>C	ExAC,gnomAD
rs756535060	p.Gln1505Glu	missense variant	-	NC_000002.12:g.227010322G>C	ExAC,TOPMed,gnomAD
rs1182462611	p.Leu1507Phe	missense variant	-	NC_000002.12:g.227010316G>A	gnomAD
rs1003748020	p.Gly1508Ser	missense variant	-	NC_000002.12:g.227010313C>T	gnomAD
rs1003748020	p.Gly1508Ser	missense variant	-	NC_000002.12:g.227010313C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala1510Val	missense variant	-	NC_000002.12:g.227008298G>A	NCI-TCGA
rs767433627	p.Ala1510Thr	missense variant	-	NC_000002.12:g.227008299C>T	ExAC,gnomAD
rs1308981445	p.Ala1510Gly	missense variant	-	NC_000002.12:g.227008298G>C	TOPMed
NCI-TCGA novel	p.Gly1511Arg	missense variant	-	NC_000002.12:g.227008296C>G	NCI-TCGA
rs748815893	p.Val1516Glu	missense variant	-	NC_000002.12:g.227008280A>T	ExAC,gnomAD
rs199517662	p.Val1516Ile	missense variant	-	NC_000002.12:g.227008281C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs748815893	p.Val1516Ala	missense variant	-	NC_000002.12:g.227008280A>G	ExAC,gnomAD
NCI-TCGA novel	p.Thr1519Lys	missense variant	-	NC_000002.12:g.227008271G>T	NCI-TCGA
rs770268591	p.Thr1519Met	missense variant	-	NC_000002.12:g.227008271G>A	ExAC,TOPMed,gnomAD
COSM3838753	p.Pro1521Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227008266G>A	NCI-TCGA Cosmic
rs1222616093	p.Pro1521Leu	missense variant	-	NC_000002.12:g.227008265G>A	NCI-TCGA
rs1222616093	p.Pro1521Leu	missense variant	-	NC_000002.12:g.227008265G>A	gnomAD
rs1361807560	p.Phe1522Val	missense variant	-	NC_000002.12:g.227008263A>C	gnomAD
COSM6157244	p.Asn1526Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227008250T>C	NCI-TCGA Cosmic
rs1253225024	p.Gln1529Glu	missense variant	-	NC_000002.12:g.227008242G>C	TOPMed
rs747411581	p.His1532Arg	missense variant	-	NC_000002.12:g.227008232T>C	ExAC,gnomAD
RCV000673399	p.Tyr1533Ter	nonsense	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227008228A>C	ClinVar
rs369922627	p.Tyr1533Ter	stop gained	-	NC_000002.12:g.227008228A>C	ESP,ExAC,TOPMed,gnomAD
rs1012782965	p.Arg1536Ile	missense variant	-	NC_000002.12:g.227008220C>A	TOPMed,gnomAD
rs1458127052	p.Asn1537Lys	missense variant	-	NC_000002.12:g.227008216G>C	TOPMed,gnomAD
rs1294440853	p.Asn1537Ser	missense variant	-	NC_000002.12:g.227008217T>C	TOPMed,gnomAD
rs1366389265	p.Asp1538Glu	missense variant	-	NC_000002.12:g.227008213G>C	gnomAD
rs376401228	p.Asp1538Asn	missense variant	-	NC_000002.12:g.227008215C>T	ESP,ExAC,TOPMed,gnomAD
rs1299842916	p.Arg1539Lys	missense variant	-	NC_000002.12:g.227008211C>T	TOPMed
RCV000674209	p.Tyr1541Ter	nonsense	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227008204G>C	ClinVar
rs891854419	p.Tyr1541Ter	stop gained	-	NC_000002.12:g.227008204G>C	TOPMed
RCV000681809	p.Trp1542Ter	frameshift	-	NC_000002.12:g.227008203_227008206dup	ClinVar
rs1161192021	p.Trp1542Arg	missense variant	-	NC_000002.12:g.227008203A>G	gnomAD
rs752821065	p.Ala1544Thr	missense variant	-	NC_000002.12:g.227008197C>T	ExAC,gnomAD
rs1053152794	p.Ser1545Cys	missense variant	-	NC_000002.12:g.227008194T>A	TOPMed,gnomAD
rs371599457	p.Ala1546Thr	missense variant	-	NC_000002.12:g.227008191C>T	ESP,ExAC,TOPMed,gnomAD
RCV000625647	p.Ala1547Val	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227008187G>A	ClinVar
RCV000825910	p.Ala1547Val	missense variant	-	NC_000002.12:g.227008187G>A	ClinVar
rs780916516	p.Ala1547Val	missense variant	-	NC_000002.12:g.227008187G>A	NCI-TCGA
rs780916516	p.Ala1547Val	missense variant	-	NC_000002.12:g.227008187G>A	ExAC,TOPMed,gnomAD
rs761671093	p.Pro1548Leu	missense variant	-	NC_000002.12:g.227008184G>A	ExAC,gnomAD
NCI-TCGA novel	p.Leu1549Ile	missense variant	-	NC_000002.12:g.227008182G>T	NCI-TCGA
rs1342970530	p.Leu1549Pro	missense variant	-	NC_000002.12:g.227008181A>G	gnomAD
rs763832994	p.Leu1549Phe	missense variant	-	NC_000002.12:g.227008182G>A	ExAC,gnomAD
rs1225912653	p.Met1551Leu	missense variant	-	NC_000002.12:g.227008176T>G	gnomAD
rs1326320251	p.Met1551Lys	missense variant	-	NC_000002.12:g.227008175A>T	TOPMed,gnomAD
rs1326320251	p.Met1551Thr	missense variant	-	NC_000002.12:g.227008175A>G	TOPMed,gnomAD
RCV000842036	p.Met1552Ile	missense variant	-	NC_000002.12:g.227008171C>T	ClinVar
rs77104306	p.Met1552Ile	missense variant	-	NC_000002.12:g.227008171C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000517669	p.Met1552Ile	missense variant	-	NC_000002.12:g.227008171C>T	ClinVar
NCI-TCGA novel	p.Glu1556Ala	missense variant	-	NC_000002.12:g.227008160T>G	NCI-TCGA
RCV000674978	p.Ala1558Val	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227008154G>A	ClinVar
rs760044982	p.Ala1558Val	missense variant	-	NC_000002.12:g.227008154G>A	NCI-TCGA
rs760044982	p.Ala1558Val	missense variant	-	NC_000002.12:g.227008154G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ile1559Met	missense variant	-	NC_000002.12:g.227008150G>C	NCI-TCGA
RCV000342956	p.Arg1560Cys	missense variant	Alport syndrome	NC_000002.12:g.227008149G>A	ClinVar
rs747362746	p.Arg1560His	missense variant	-	NC_000002.12:g.227008148C>T	ExAC,TOPMed,gnomAD
rs200973262	p.Arg1560Cys	missense variant	-	NC_000002.12:g.227008149G>A	ExAC,TOPMed,gnomAD
rs747362746	p.Arg1560His	missense variant	-	NC_000002.12:g.227008148C>T	NCI-TCGA,NCI-TCGA Cosmic
RCV000672397	p.Arg1560Ter	frameshift	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227008146_227008150del	ClinVar
rs778178541	p.Pro1561Ser	missense variant	-	NC_000002.12:g.227008146G>A	ExAC,gnomAD
rs1192004113	p.Tyr1562His	missense variant	-	NC_000002.12:g.227008143A>G	TOPMed
rs372161135	p.Arg1565Cys	missense variant	-	NC_000002.12:g.227008134G>A	NCI-TCGA
rs200109045	p.Arg1565His	missense variant	-	NC_000002.12:g.227008133C>T	NCI-TCGA
rs372161135	p.Arg1565Cys	missense variant	-	NC_000002.12:g.227008134G>A	ESP,ExAC,gnomAD
rs200109045	p.Arg1565His	missense variant	-	NC_000002.12:g.227008133C>T	ESP,ExAC,TOPMed,gnomAD
RCV000625630	p.Arg1565Ter	frameshift	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227008117_227008136del	ClinVar
rs1252796737	p.Cys1566Gly	missense variant	-	NC_000002.12:g.227008131A>C	gnomAD
rs779005474	p.Ala1567Val	missense variant	-	NC_000002.12:g.227008127G>A	NCI-TCGA,NCI-TCGA Cosmic
rs779005474	p.Ala1567Val	missense variant	-	NC_000002.12:g.227008127G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Cys1569Ser	missense variant	-	NC_000002.12:g.227008122A>T	NCI-TCGA
rs370917166	p.Cys1569Phe	missense variant	-	NC_000002.12:g.227008121C>A	ESP,ExAC,TOPMed,gnomAD
rs757328549	p.Glu1570Lys	missense variant	-	NC_000002.12:g.227008119C>T	ExAC,TOPMed,gnomAD
rs757328549	p.Glu1570Gln	missense variant	-	NC_000002.12:g.227008119C>G	ExAC,TOPMed,gnomAD
rs1161613714	p.Glu1570Gly	missense variant	-	NC_000002.12:g.227008118T>C	gnomAD
rs1443445766	p.Glu1570Asp	missense variant	-	NC_000002.12:g.227008117C>A	TOPMed
rs1403985290	p.Ala1571Val	missense variant	-	NC_000002.12:g.227008115G>A	gnomAD
RCV000825912	p.Pro1572Leu	missense variant	-	NC_000002.12:g.227008112G>A	ClinVar
rs121912863	p.Pro1572Leu	missense variant	Alport syndrome 2, autosomal recessive (ATS2)	NC_000002.12:g.227008112G>A	UniProt,dbSNP
VAR_008155	p.Pro1572Leu	missense variant	Alport syndrome 2, autosomal recessive (ATS2)	NC_000002.12:g.227008112G>A	UniProt
rs121912863	p.Pro1572Leu	missense variant	-	NC_000002.12:g.227008112G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs762613810	p.Ala1573Val	missense variant	-	NC_000002.12:g.227008109G>A	ExAC,TOPMed,gnomAD
rs199760323	p.Ala1575Val	missense variant	-	NC_000002.12:g.227008103G>A	NCI-TCGA,NCI-TCGA Cosmic
rs199760323	p.Ala1575Val	missense variant	-	NC_000002.12:g.227008103G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs199760323	p.Ala1575Glu	missense variant	-	NC_000002.12:g.227008103G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs936251750	p.Val1576Ala	missense variant	-	NC_000002.12:g.227008100A>G	gnomAD
rs758945837	p.Ala1577Val	missense variant	-	NC_000002.12:g.227008097G>A	ExAC,TOPMed,gnomAD
rs1175400080	p.Val1578Leu	missense variant	-	NC_000002.12:g.227008095C>A	gnomAD
NCI-TCGA novel	p.His1579Arg	missense variant	-	NC_000002.12:g.227008091T>C	NCI-TCGA
rs771426359	p.Ser1580Asn	missense variant	-	NC_000002.12:g.227008088C>T	ExAC,gnomAD
rs761176815	p.Gln1583Leu	missense variant	-	NC_000002.12:g.227008079T>A	ExAC,gnomAD
COSM4900140	p.Ser1584Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227008076G>A	NCI-TCGA Cosmic
COSM3991115	p.Ile1585Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227008073A>G	NCI-TCGA Cosmic
RCV000517177	p.Pro1587Leu	missense variant	-	NC_000002.12:g.227008067G>A	ClinVar
NCI-TCGA novel	p.Pro1587HisPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.227008067G>-	NCI-TCGA
rs773508075	p.Pro1587Ala	missense variant	-	NC_000002.12:g.227008068G>C	ExAC,TOPMed,gnomAD
rs773508075	p.Pro1587Ser	missense variant	-	NC_000002.12:g.227008068G>A	ExAC,TOPMed,gnomAD
rs190148408	p.Pro1587Arg	missense variant	-	NC_000002.12:g.227008067G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs190148408	p.Pro1587Gln	missense variant	-	NC_000002.12:g.227008067G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000684750	p.Pro1587Ter	frameshift	-	NC_000002.12:g.227008072del	ClinVar
rs190148408	p.Pro1587Leu	missense variant	-	NC_000002.12:g.227008067G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000835693	p.Pro1587Arg	missense variant	-	NC_000002.12:g.227008067G>C	ClinVar
RCV000667142	p.Pro1587Ter	frameshift	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227008072del	ClinVar
rs768974023	p.Pro1589Leu	missense variant	-	NC_000002.12:g.227008061G>A	ExAC,gnomAD
rs768974023	p.Pro1589Leu	missense variant	-	NC_000002.12:g.227008061G>A	NCI-TCGA,NCI-TCGA Cosmic
RCV000681827	p.Gln1590Ter	nonsense	-	NC_000002.12:g.227008059G>A	ClinVar
rs780283211	p.Trp1592Arg	missense variant	-	NC_000002.12:g.227008053A>G	ExAC,gnomAD
rs1011809976	p.Arg1593Lys	missense variant	-	NC_000002.12:g.227008049C>T	TOPMed,gnomAD
rs200799557	p.Ser1594Arg	missense variant	-	NC_000002.12:g.227008045G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu1595Ile	missense variant	-	NC_000002.12:g.227008044G>T	NCI-TCGA
rs1222429942	p.Trp1596Ter	stop gained	-	NC_000002.12:g.227008040C>T	gnomAD
rs758096259	p.Trp1596Ter	stop gained	-	NC_000002.12:g.227008039C>T	ExAC,gnomAD
rs752585800	p.Ile1597Met	missense variant	-	NC_000002.12:g.227008036G>C	ExAC,TOPMed,gnomAD
rs1403779580	p.Gly1598Arg	missense variant	-	NC_000002.12:g.227008035C>T	gnomAD
rs1343446001	p.Tyr1599Ser	missense variant	-	NC_000002.12:g.227008031T>G	gnomAD
rs377058706	p.Met1603Thr	missense variant	-	NC_000002.12:g.227008019A>G	ESP,ExAC,gnomAD
rs1409801920	p.Met1603Leu	missense variant	-	NC_000002.12:g.227008020T>A	TOPMed,gnomAD
rs374167724	p.Thr1605Ile	missense variant	-	NC_000002.12:g.227007584G>A	ESP,ExAC,TOPMed,gnomAD
rs767901025	p.Gly1606Glu	missense variant	-	NC_000002.12:g.227007581C>T	ExAC,TOPMed,gnomAD
rs750001630	p.Gly1606Arg	missense variant	-	NC_000002.12:g.227007582C>G	ExAC,gnomAD
RCV000667621	p.Gly1606Glu	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227007581C>T	ClinVar
RCV000735681	p.Ala1607Ter	frameshift	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227007578del	ClinVar
COSM3578362	p.Asp1609Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227007573C>T	NCI-TCGA Cosmic
rs1429753305	p.Asp1609Tyr	missense variant	-	NC_000002.12:g.227007573C>A	gnomAD
rs369714481	p.Gln1610Arg	missense variant	-	NC_000002.12:g.227007569T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs762452355	p.Gln1610Glu	missense variant	-	NC_000002.12:g.227007570G>C	ExAC,gnomAD
COSM3578361	p.Gly1612Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227007563C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly1612Arg	missense variant	-	NC_000002.12:g.227007564C>T	NCI-TCGA
rs377233046	p.Gly1613Arg	missense variant	-	NC_000002.12:g.227007561C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala1615Thr	missense variant	-	NC_000002.12:g.227007555C>T	NCI-TCGA
rs1417970160	p.Leu1616Arg	missense variant	-	NC_000002.12:g.227007551A>C	TOPMed,gnomAD
rs775820438	p.Met1617Thr	missense variant	-	NC_000002.12:g.227007548A>G	ExAC,gnomAD
rs1271416659	p.Gly1620Ser	missense variant	-	NC_000002.12:g.227007540C>T	gnomAD
rs886055723	p.Ser1621Asn	missense variant	-	NC_000002.12:g.227007536C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Ser1621Arg	missense variant	-	NC_000002.12:g.227007535G>T	NCI-TCGA
RCV000327870	p.Ser1621Asn	missense variant	Alport syndrome	NC_000002.12:g.227007536C>T	ClinVar
rs776835720	p.Leu1623Pro	missense variant	-	NC_000002.12:g.227007530A>G	ExAC,gnomAD
rs745928196	p.Leu1623Val	missense variant	-	NC_000002.12:g.227007531G>C	ExAC,gnomAD
rs745928196	p.Leu1623Met	missense variant	-	NC_000002.12:g.227007531G>T	ExAC,gnomAD
rs745928196	p.Leu1623Met	missense variant	-	NC_000002.12:g.227007531G>T	NCI-TCGA
rs539801258	p.Glu1624Lys	missense variant	-	NC_000002.12:g.227007528C>T	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Asp1625His	missense variant	-	NC_000002.12:g.227007525C>G	NCI-TCGA
rs748131225	p.Asp1625Tyr	missense variant	-	NC_000002.12:g.227007525C>A	ExAC,gnomAD
rs1213850422	p.Asp1625Glu	missense variant	-	NC_000002.12:g.227007523A>C	gnomAD
NCI-TCGA novel	p.Arg1627Lys	missense variant	-	NC_000002.12:g.227007518C>T	NCI-TCGA
NCI-TCGA novel	p.Arg1627Thr	missense variant	-	NC_000002.12:g.227007518C>G	NCI-TCGA
NCI-TCGA novel	p.Ala1628Thr	missense variant	-	NC_000002.12:g.227007516C>T	NCI-TCGA
rs1324597548	p.Ala1629Thr	missense variant	-	NC_000002.12:g.227007513C>T	TOPMed
rs1324013467	p.Ala1629Gly	missense variant	-	NC_000002.12:g.227007512G>C	gnomAD
rs778524414	p.Pro1630Gln	missense variant	-	NC_000002.12:g.227007509G>T	ExAC,gnomAD
rs1049474076	p.Pro1630Ala	missense variant	-	NC_000002.12:g.227007510G>C	TOPMed
rs1278880176	p.Leu1632Val	missense variant	-	NC_000002.12:g.227007504G>C	TOPMed
rs1345086570	p.Cys1634Tyr	missense variant	-	NC_000002.12:g.227007497C>T	gnomAD
RCV000669796	p.Gln1635Ter	nonsense	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227007495G>A	ClinVar
rs1553611947	p.Gln1635Ter	stop gained	-	NC_000002.12:g.227007495G>A	-
rs749126012	p.Gly1636Ala	missense variant	-	NC_000002.12:g.227007491C>G	ExAC,gnomAD
rs749126012	p.Gly1636Asp	missense variant	-	NC_000002.12:g.227007491C>T	ExAC,gnomAD
rs779662741	p.Arg1637Trp	missense variant	-	NC_000002.12:g.227007489G>A	ExAC,TOPMed,gnomAD
rs937092831	p.Arg1637Gln	missense variant	-	NC_000002.12:g.227007488C>T	gnomAD
rs937092831	p.Arg1637Leu	missense variant	-	NC_000002.12:g.227007488C>A	gnomAD
rs937092831	p.Arg1637Pro	missense variant	-	NC_000002.12:g.227007488C>G	gnomAD
rs755824478	p.Gln1638Lys	missense variant	-	NC_000002.12:g.227007486G>T	ExAC,gnomAD
rs755824478	p.Gln1638Glu	missense variant	-	NC_000002.12:g.227007486G>C	ExAC,gnomAD
rs749899964	p.Gly1639Arg	missense variant	-	NC_000002.12:g.227007483C>G	ExAC,TOPMed,gnomAD
RCV000018951	p.Cys1641Ter	nonsense	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227007475G>T	ClinVar
rs1479278183	p.Cys1641Arg	missense variant	-	NC_000002.12:g.227007477A>G	gnomAD
rs121912862	p.Cys1641Ter	stop gained	-	NC_000002.12:g.227007475G>T	-
rs1177348012	p.His1642Arg	missense variant	-	NC_000002.12:g.227007473T>C	gnomAD
rs200450557	p.His1642Tyr	missense variant	-	NC_000002.12:g.227007474G>A	ESP,ExAC,TOPMed,gnomAD
RCV000673823	p.Ala1645Ter	frameshift	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227007466delinsAA	ClinVar
rs752134510	p.Ala1645Thr	missense variant	-	NC_000002.12:g.227007465C>T	ExAC,gnomAD
rs764734415	p.Asn1646Ser	missense variant	-	NC_000002.12:g.227007461T>C	ExAC,TOPMed,gnomAD
rs1221443043	p.Lys1647Thr	missense variant	-	NC_000002.12:g.227007458T>G	NCI-TCGA
rs1221443043	p.Lys1647Thr	missense variant	-	NC_000002.12:g.227007458T>G	gnomAD
rs1264816671	p.Lys1647Glu	missense variant	-	NC_000002.12:g.227007459T>C	gnomAD
rs763387095	p.Tyr1648Cys	missense variant	-	NC_000002.12:g.227007455T>C	ExAC,TOPMed,gnomAD
rs1225616968	p.Ser1649Ile	missense variant	-	NC_000002.12:g.227007452C>A	gnomAD
rs192411379	p.Ser1649Gly	missense variant	-	NC_000002.12:g.227007453T>C	1000Genomes,ExAC,TOPMed,gnomAD
RCV000625631	p.Phe1650Leu	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227007450A>G	ClinVar
rs1263213656	p.Phe1650Ser	missense variant	-	NC_000002.12:g.227007449A>G	TOPMed
rs1553611876	p.Phe1650Leu	missense variant	-	NC_000002.12:g.227007450A>G	-
rs542384685	p.Phe1650Leu	missense variant	-	NC_000002.12:g.227007448G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1408907127	p.Trp1651Ter	stop gained	-	NC_000002.12:g.227007445C>T	gnomAD
NCI-TCGA novel	p.Trp1651Leu	missense variant	-	NC_000002.12:g.227007446C>A	NCI-TCGA
rs1454018885	p.Trp1651Arg	missense variant	-	NC_000002.12:g.227007447A>G	gnomAD
rs771066050	p.Thr1654Met	missense variant	-	NC_000002.12:g.227007437G>A	NCI-TCGA,NCI-TCGA Cosmic
rs771066050	p.Thr1654Met	missense variant	-	NC_000002.12:g.227007437G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala1657Val	missense variant	-	NC_000002.12:g.227007428G>A	NCI-TCGA
rs768633939	p.Ala1657Thr	missense variant	-	NC_000002.12:g.227007429C>T	ExAC
rs749073740	p.Asp1658His	missense variant	-	NC_000002.12:g.227007426C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln1660Arg	missense variant	-	NC_000002.12:g.227007419T>C	NCI-TCGA
rs769372058	p.Gln1660Lys	missense variant	-	NC_000002.12:g.227007420G>T	ExAC,gnomAD
RCV000735763	p.Phe1661Tyr	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227007416A>T	ClinVar
RCV000825906	p.Phe1661Tyr	missense variant	-	NC_000002.12:g.227007416A>T	ClinVar
rs374119389	p.Phe1661Tyr	missense variant	-	NC_000002.12:g.227007416A>T	ESP,ExAC,TOPMed,gnomAD
rs780525036	p.Ser1663Cys	missense variant	-	NC_000002.12:g.227007410G>C	ExAC,TOPMed,gnomAD
rs1201612577	p.Ala1664Pro	missense variant	-	NC_000002.12:g.227007408C>G	gnomAD
rs756756825	p.Pro1665Thr	missense variant	-	NC_000002.12:g.227007405G>T	ExAC,gnomAD
rs1218247424	p.Pro1667Ser	missense variant	-	NC_000002.12:g.227007399G>A	gnomAD
rs778411061	p.Asp1668His	missense variant	-	NC_000002.12:g.227007396C>G	ExAC,gnomAD
RCV000735779	p.Glu1672Ala	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227007383T>G	ClinVar
rs1354826968	p.Glu1672Ala	missense variant	-	NC_000002.12:g.227007383T>G	TOPMed
rs1385708518	p.Ser1673Asn	missense variant	-	NC_000002.12:g.227007380C>T	gnomAD
COSM5079341	p.Gln1674His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227007376C>A	NCI-TCGA Cosmic
rs1023012302	p.Gln1674Ter	stop gained	-	NC_000002.12:g.227007378G>A	TOPMed
rs187786164	p.Ala1675Thr	missense variant	-	NC_000002.12:g.227007375C>T	1000Genomes
rs1238651473	p.Ala1675Asp	missense variant	-	NC_000002.12:g.227007374G>T	TOPMed
rs1386161762	p.Gln1676His	missense variant	-	NC_000002.12:g.227007370T>G	gnomAD
rs759631057	p.Arg1677Cys	missense variant	-	NC_000002.12:g.227007369G>A	NCI-TCGA,NCI-TCGA Cosmic
rs759631057	p.Arg1677Ser	missense variant	-	NC_000002.12:g.227007369G>T	ExAC,TOPMed,gnomAD
rs754121251	p.Arg1677His	missense variant	-	NC_000002.12:g.227007368C>T	ExAC,gnomAD
rs759631057	p.Arg1677Cys	missense variant	-	NC_000002.12:g.227007369G>A	ExAC,TOPMed,gnomAD
RCV000665534	p.Arg1677Cys	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227007369G>A	ClinVar
COSM1405927	p.Lys1679Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227007362T>C	NCI-TCGA Cosmic
rs1343051499	p.Ile1680Thr	missense variant	-	NC_000002.12:g.227007359A>G	gnomAD
COSM1017278	p.Ser1681Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227007357T>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser1681Cys	missense variant	-	NC_000002.12:g.227007357T>A	NCI-TCGA
RCV000516925	p.Arg1682Gln	missense variant	-	NC_000002.12:g.227007353C>T	ClinVar
rs368404711	p.Arg1682Gln	missense variant	-	NC_000002.12:g.227007353C>T	ESP,ExAC,TOPMed,gnomAD
rs766550724	p.Arg1682Trp	missense variant	-	NC_000002.12:g.227007354G>A	ExAC,gnomAD
RCV000735753	p.Arg1682Trp	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227007354G>A	ClinVar
RCV000669331	p.Cys1683Tyr	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227007350C>T	ClinVar
rs1386495377	p.Cys1683Tyr	missense variant	-	NC_000002.12:g.227007350C>T	TOPMed,gnomAD
rs773342435	p.Val1687Leu	missense variant	-	NC_000002.12:g.227007339C>G	ExAC,gnomAD
rs773342435	p.Val1687Met	missense variant	-	NC_000002.12:g.227007339C>T	ExAC,gnomAD
rs768552485	p.Lys1688Asn	missense variant	-	NC_000002.12:g.227007334C>A	ExAC,gnomAD
rs762885668	p.Ser1690Arg	missense variant	-	NC_000002.12:g.227007328G>C	ExAC,gnomAD
RCV000667473	p.Ter1691Tyr	stop lost	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227007325C>G	ClinVar
rs769660371	p.Ter1691Tyr	stop lost	-	NC_000002.12:g.227007325C>G	ExAC,TOPMed,gnomAD
rs374497352	p.Ter1691Gln	stop lost	-	NC_000002.12:g.227007327A>G	ESP,ExAC,TOPMed,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0011053	Deafness	phenotype	HPO
C0015230	Exanthema	phenotype	BEFREE
C0017668	Focal glomerulosclerosis	disease	BEFREE
C0018772	Hearing Loss, Partial	phenotype	CLINVAR;HPO
C0018784	Sensorineural Hearing Loss (disorder)	disease	BEFREE
C0018965	Hematuria	phenotype	CLINVAR;HPO;LHGDN
C0020538	Hypertensive disease	group	HPO
C0022658	Kidney Diseases	group	BEFREE
C0022661	Kidney Failure, Chronic	disease	BEFREE;LHGDN
C0027092	Myopia	disease	CLINVAR;HPO
C0027697	Nephritis	disease	HPO
C0027706	Hereditary nephritis	disease	LHGDN
C0027726	Nephrotic Syndrome	group	HPO
C0033687	Proteinuria	phenotype	CLINVAR;HPO
C0035078	Kidney Failure	disease	BEFREE
C0086543	Cataract	disease	HPO
C0154856	Retinal lattice degeneration	disease	BEFREE
C0238157	Benign hematuria	disease	BEFREE
C0241908	Hematuria, Benign Familial	disease	BEFREE;CLINVAR;UNIPROT
C0339789	Congenital deafness	disease	HPO
C0344262	Anterior lenticonus	disease	HPO
C0392163	Corneal erosion	disease	HPO
C0403440	Thin basement membrane disease	disease	BEFREE;UNIPROT
C0445347	Thickening of glomerular basement membrane	phenotype	HPO
C0497247	Increase in blood pressure	phenotype	CLINVAR;HPO
C0578022	Finding of body mass index	phenotype	GWASCAT
C1305855	Body mass index	phenotype	GWASCAT
C1305904	Familial hematuria	disease	BEFREE;GENOMICS_ENGLAND
C1384666	hearing impairment	phenotype	HPO;LHGDN
C1510497	Lens Opacities	phenotype	HPO
C1561643	Chronic Kidney Diseases	group	BEFREE
C1563715	Andersen Syndrome	disease	BEFREE
C1567741	Alport Syndrome	disease	BEFREE
C1567742	Alport Syndrome, X-Linked	disease	BEFREE
C1567743	Alport Syndrome, Autosomal Dominant	disease	BEFREE;ORPHANET
C1567744	Alport Syndrome, Autosomal Recessive	disease	BEFREE;CLINVAR;MGD;ORPHANET;UNIPROT
C1859726	ARTERIAL TORTUOSITY SYNDROME	disease	BEFREE
C2316810	Chronic kidney disease stage 5	disease	BEFREE;HPO
C2699541	Cytokine Measurement	group	GWASCAT
C2931253	Alport syndrome, dominant type	disease	ORPHANET
C2931254	Alport syndrome, recessive type	disease	CTD_human;ORPHANET
C3278307	Diffuse glomerular basement membrane lamellation	phenotype	HPO
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND
C4476526	High urine occult blood	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005201	extracellular matrix structural constituent	IMP
GO:0005201	extracellular matrix structural constituent	IBA
GO:0030020	extracellular matrix structural constituent conferring tensile strength	RCA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0030198	extracellular matrix organization	IBA
GO:0030198	extracellular matrix organization	TAS
GO:0032836	glomerular basement membrane development	IMP
GO:0032836	glomerular basement membrane development	IBA
GO:0038063	collagen-activated tyrosine kinase receptor signaling pathway	IBA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005576	extracellular region	TAS
GO:0005587	collagen type IV trimer	IBA
GO:0005587	collagen type IV trimer	IDA
GO:0005604	basement membrane	IDA
GO:0005615	extracellular space	IBA
GO:0005788	endoplasmic reticulum lumen	TAS
GO:0031012	extracellular matrix	IBA
GO:0062023	collagen-containing extracellular matrix	HDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1266738	Developmental Biology	TAS
R-HSA-1442490	Collagen degradation	TAS
R-HSA-1442490	Collagen degradation	IEA
R-HSA-1474228	Degradation of the extracellular matrix	TAS
R-HSA-1474228	Degradation of the extracellular matrix	IEA
R-HSA-1474244	Extracellular matrix organization	TAS
R-HSA-1474244	Extracellular matrix organization	IEA
R-HSA-1474290	Collagen formation	TAS
R-HSA-162582	Signal Transduction	TAS
R-HSA-1650814	Collagen biosynthesis and modifying enzymes	TAS
R-HSA-186797	Signaling by PDGF	TAS
R-HSA-2022090	Assembly of collagen fibrils and other multimeric structures	TAS
R-HSA-216083	Integrin cell surface interactions	TAS
R-HSA-216083	Integrin cell surface interactions	IEA
R-HSA-2214320	Anchoring fibril formation	TAS
R-HSA-2243919	Crosslinking of collagen fibrils	TAS
R-HSA-3000157	Laminin interactions	IEA
R-HSA-3000157	Laminin interactions	TAS
R-HSA-3000171	Non-integrin membrane-ECM interactions	TAS
R-HSA-3000178	ECM proteoglycans	IEA
R-HSA-375165	NCAM signaling for neurite out-growth	TAS
R-HSA-419037	NCAM1 interactions	TAS
R-HSA-422475	Axon guidance	TAS
R-HSA-8948216	Collagen chain trimerization	TAS
R-HSA-9006934	Signaling by Receptor Tyrosine Kinases	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Vorinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of COL4A4 mRNA	27188386
D015124	8-Bromo Cyclic Adenosine Monophosphate	8-Bromo Cyclic Adenosine Monophosphate results in decreased expression of COL4A4 mRNA	22079614
C496492	abrine	abrine results in decreased expression of COL4A4 mRNA	31054353
D000082	Acetaminophen	Acetaminophen results in decreased expression of COL4A4 mRNA	22230336
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of COL4A4 mRNA	23630614
D000535	Aluminum	[APP protein modified form binds to Aluminum] which results in increased expression of COL4A4 mRNA	21298039
C030935	benz(a)anthracene	benz(a)anthracene results in decreased expression of COL4A4 mRNA	26377693
C030935	benz(a)anthracene	[Benzo(a)pyrene co-treated with benz(a)anthracene co-treated with benzo(b)fluoranthene co-treated with chrysene] results in decreased expression of COL4A4 mRNA	27858113
D001564	Benzo(a)pyrene	[Benzo(a)pyrene co-treated with benz(a)anthracene co-treated with benzo(b)fluoranthene co-treated with chrysene] results in decreased expression of COL4A4 mRNA	27858113
C006703	benzo(b)fluoranthene	[Benzo(a)pyrene co-treated with benz(a)anthracene co-treated with benzo(b)fluoranthene co-treated with chrysene] results in decreased expression of COL4A4 mRNA	27858113
C006703	benzo(b)fluoranthene	benzo(b)fluoranthene results in decreased expression of COL4A4 mRNA	26377693
C006780	bisphenol A	bisphenol A results in decreased expression of COL4A4 mRNA	30816183
C006780	bisphenol A	bisphenol A results in increased expression of COL4A4 mRNA	25181051
C018475	butyraldehyde	butyraldehyde results in decreased expression of COL4A4 mRNA	26079696
D002509	Cephaloridine	Cephaloridine results in decreased expression of COL4A4 mRNA	18500788
C031180	chrysene	[Benzo(a)pyrene co-treated with benz(a)anthracene co-treated with benzo(b)fluoranthene co-treated with chrysene] results in decreased expression of COL4A4 mRNA	27858113
C031180	chrysene	chrysene results in decreased expression of COL4A4 mRNA	26377693
D004052	Diethylnitrosamine	Diethylnitrosamine results in increased expression of COL4A4 mRNA	24535843
C025605	diisobutyl phthalate	diisobutyl phthalate results in decreased expression of COL4A4 mRNA	29458080
C516138	dorsomorphin	[NOG protein co-treated with Vorinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of COL4A4 mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in decreased expression of COL4A4 mRNA	29803840
D004317	Doxorubicin	Doxorubicin results in decreased expression of COL4A4 mRNA	15033991
D004726	Endosulfan	Endosulfan results in decreased expression of COL4A4 mRNA	29391264
D017313	Fenretinide	Fenretinide results in decreased expression of COL4A4 mRNA	28973697
D017313	Fenretinide	Fenretinide results in increased expression of COL4A4 mRNA	28973697
D000077146	Irinotecan	Irinotecan analog results in decreased expression of COL4A4 mRNA	18927307
C008261	lead acetate	lead acetate results in decreased expression of COL4A4 mRNA	11578147
D008627	Mercuric Chloride	Mercuric Chloride results in decreased expression of COL4A4 mRNA	16507785
D008727	Methotrexate	Methotrexate results in increased expression of COL4A4 protein	8667468
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of COL4A4 mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of COL4A4 mRNA	25554681
D009532	Nickel	Nickel results in increased expression of COL4A4 mRNA	25583101
C028007	nickel monoxide	nickel monoxide results in decreased expression of COL4A4 mRNA	19167457
D010100	Oxygen	[NFE2L2 protein affects the susceptibility to Oxygen] which affects the expression of COL4A4 mRNA	30529165
D010634	Phenobarbital	Phenobarbital results in decreased expression of COL4A4 mRNA	19084549
D010936	Plant Extracts	Plant Extracts results in decreased expression of COL4A4 mRNA	23557933
D011374	Progesterone	Progesterone results in decreased expression of COL4A4 mRNA	23012394
D011441	Propylthiouracil	Propylthiouracil results in decreased expression of COL4A4 mRNA	24780913
D012906	Smoke	Smoke results in decreased expression of COL4A4 mRNA	21095227
D053260	Soot	Soot results in decreased expression of COL4A4 mRNA	26551751
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of COL4A4 mRNA	12377990
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of COL4A4 mRNA	26377647
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of COL4A4 mRNA	27562557
C009495	titanium dioxide	titanium dioxide results in increased expression of COL4A4 mRNA	23557971
C009495	titanium dioxide	titanium dioxide results in decreased expression of COL4A4 mRNA	30012374
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased expression of COL4A4 mRNA	28065790
D014241	Trichloroethylene	Trichloroethylene results in increased methylation of COL4A4 gene	27618143
C012589	trichostatin A	trichostatin A results in increased expression of COL4A4 mRNA	24935251
D014635	Valproic Acid	Valproic Acid results in increased expression of COL4A4 mRNA	24935251
D014635	Valproic Acid	Valproic Acid results in decreased expression of COL4A4 mRNA	29427782
C025643	vinclozolin	vinclozolin results in decreased expression of COL4A4 mRNA	23034163
C029297	vinylidene chloride	vinylidene chloride results in decreased expression of COL4A4 mRNA	26682919
D014800	Vitallium	Vitallium analog results in increased expression of COL4A4 mRNA	23825117
D000077337	Vorinostat	[NOG protein co-treated with Vorinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of COL4A4 mRNA	27188386
D000077337	Vorinostat	Vorinostat results in increased expression of COL4A4 mRNA	26272509

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0023	Alport syndrome
KW-0084	Basement membrane
KW-0176	Collagen
KW-0209	Deafness
KW-0225	Disease mutation
KW-1015	Disulfide bond
KW-0272	Extracellular matrix
KW-0325	Glycoprotein
KW-0379	Hydroxylation
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0677	Repeat
KW-0964	Secreted
KW-0732	Signal

Interpro

InterPro ID	InterPro Term
IPR008160	Collagen
IPR001442	Collagen_IV_NC
IPR036954	Collagen_IV_NC_sf
IPR016187	CTDL_fold

PROSITE

PROSITE ID	PROSITE Term
PS51403	NC1_IV

Pfam

Pfam ID	Pfam Term
PF01413	C4
PF01391	Collagen

Gene: COL4A4

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction