CleftGeneDB-Search

Gene: COL4A3

Basic information

Tag	Content
Uniprot ID	Q01955; Q53QQ1; Q53R14; Q53RW8; Q9BQT2; Q9NYC4; Q9UDJ9; Q9UDK9; Q9UDL0; Q9UDL1;
Entrez ID	1285
Genbank protein ID	CAC36101.1; AAX93111.1; AAY24251.1; AAA51556.1; AAF72632.1; AAY14671.1; AAA21610.1; AAA18943.1; AAB19637.1; BAA25064.1; CAA56335.1; AAA18942.1; AAA52044.1;
Genbank nucleotide ID	NM_000091.4
Ensembl protein ID	ENSP00000379823
Ensembl nucleotide ID	ENSG00000169031
Gene name	Collagen alpha-3(IV) chain
Gene symbol	COL4A3
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type	CPO,CL/P
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	MSARTAPRPQ VLLLPLLLVL LAAAPAASKG CVCKDKGQCF CDGAKGEKGE KGFPGPPGSP 60 GQKGFTGPEG LPGPQGPKGF PGLPGLTGSK GVRGISGLPG FSGSPGLPGT PGNTGPYGLV 120 GVPGCSGSKG EQGFPGLPGT LGYPGIPGAA GLKGQKGAPA KEEDIELDAK GDPGLPGAPG 180 PQGLPGPPGF PGPVGPPGPP GFFGFPGAMG PRGPKGHMGE RVIGHKGERG VKGLTGPPGP 240 PGTVIVTLTG PDNRTDLKGE KGDKGAMGEP GPPGPSGLPG ESYGSEKGAP GDPGLQGKPG 300 KDGVPGFPGS EGVKGNRGFP GLMGEDGIKG QKGDIGPPGF RGPTEYYDTY QEKGDEGTPG 360 PPGPRGARGP QGPSGPPGVP GSPGSSRPGL RGAPGWPGLK GSKGERGRPG KDAMGTPGSP 420 GCAGSPGLPG SPGPPGPPGD IVFRKGPPGD HGLPGYLGSP GIPGVDGPKG EPGLLCTQCP 480 YIPGPPGLPG LPGLHGVKGI PGRQGAAGLK GSPGSPGNTG LPGFPGFPGA QGDPGLKGEK 540 GETLQPEGQV GVPGDPGLRG QPGRKGLDGI PGTPGVKGLP GPKGELALSG EKGDQGPPGD 600 PGSPGSPGPA GPAGPPGYGP QGEPGLQGTQ GVPGAPGPPG EAGPRGELSV STPVPGPPGP 660 PGPPGHPGPQ GPPGIPGSLG KCGDPGLPGP DGEPGIPGIG FPGPPGPKGD QGFPGTKGSL 720 GCPGKMGEPG LPGKPGLPGA KGEPAVAMPG GPGTPGFPGE RGNSGEHGEI GLPGLPGLPG 780 TPGNEGLDGP RGDPGQPGPP GEQGPPGRCI EGPRGAQGLP GLNGLKGQQG RRGKTGPKGD 840 PGIPGLDRSG FPGETGSPGI PGHQGEMGPL GQRGYPGNPG ILGPPGEDGV IGMMGFPGAI 900 GPPGPPGNPG TPGQRGSPGI PGVKGQRGTP GAKGEQGDKG NPGPSEISHV IGDKGEPGLK 960 GFAGNPGEKG NRGVPGMPGL KGLKGLPGPA GPPGPRGDLG STGNPGEPGL RGIPGSMGNM 1020 GMPGSKGKRG TLGFPGRAGR PGLPGIHGLQ GDKGEPGYSE GTRPGPPGPT GDPGLPGDMG 1080 KKGEMGQPGP PGHLGPAGPE GAPGSPGSPG LPGKPGPHGD LGFKGIKGLL GPPGIRGPPG 1140 LPGFPGSPGP MGIRGDQGRD GIPGPAGEKG ETGLLRAPPG PRGNPGAQGA KGDRGAPGFP 1200 GLPGRKGAMG DAGPRGPTGI EGFPGPPGLP GAIIPGQTGN RGPPGSRGSP GAPGPPGPPG 1260 SHVIGIKGDK GSMGHPGPKG PPGTAGDMGP PGRLGAPGTP GLPGPRGDPG FQGFPGVKGE 1320 KGNPGFLGSI GPPGPIGPKG PPGVRGDPGT LKIISLPGSP GPPGTPGEPG MQGEPGPPGP 1380 PGNLGPCGPR GKPGKDGKPG TPGPAGEKGN KGSKGEPGPA GSDGLPGLKG KRGDSGSPAT 1440 WTTRGFVFTR HSQTTAIPSC PEGTVPLYSG FSFLFVQGNQ RAHGQDLGTL GSCLQRFTTM 1500 PFLFCNVNDV CNFASRNDYS YWLSTPALMP MNMAPITGRA LEPYISRCTV CEGPAIAIAV 1560 HSQTTDIPPC PHGWISLWKG FSFIMFTSAG SEGTGQALAS PGSCLEEFRA SPFLECHGRG 1620 TCNYYSNSYS FWLASLNPER MFRKPIPSTV KAGELEKIIS RCQVCMKKRH

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
5NB0

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	COL4A3		F1MZU6		Bos taurus	Prediction	More>>
1:1 ortholog	COL4A3	1285	Q01955	CPO,CL/P	Homo sapiens	Publication	More>>
1:1 ortholog	Col4a3	12828	Q9QZS0		Mus musculus	Prediction	More>>
1:1 ortholog	COL4A3	459988	H2QJJ5		Pan troglodytes	Prediction	More>>
1:1 ortholog	COL4A3		G1SCM1		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Col4a3	363265	F1LRJ1		Rattus norvegicus	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
COL4A3	c.4243G>D; p.G1415R and c.4216G>A; p.G1406R (compound heterozygous)	WES and Sanger sequencing	33524082

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
RCV000670747	p.Met1Leu	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227164727A>C	ClinVar
RCV000673067	p.Met1Thr	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227164728T>C	ClinVar
rs1385822999	p.Ser2Arg	missense variant	-	NC_000002.12:g.227164732C>G	TOPMed,gnomAD
rs921905047	p.Arg4Gln	missense variant	-	NC_000002.12:g.227164737G>A	TOPMed,gnomAD
rs1317800639	p.Ala6Val	missense variant	-	NC_000002.12:g.227164743C>T	TOPMed,gnomAD
rs770024296	p.Ala6Ser	missense variant	-	NC_000002.12:g.227164742G>T	ExAC,TOPMed,gnomAD
rs776115817	p.Pro7Ser	missense variant	-	NC_000002.12:g.227164745C>T	ExAC,gnomAD
rs944020939	p.Arg8Lys	missense variant	-	NC_000002.12:g.227164749G>A	TOPMed
rs773820821	p.Pro9Leu	missense variant	-	NC_000002.12:g.227164752C>T	TOPMed,gnomAD
rs890999119	p.Pro9Ser	missense variant	-	NC_000002.12:g.227164751C>T	TOPMed,gnomAD
rs1453590085	p.Gln10Ter	stop gained	-	NC_000002.12:g.227164754C>T	gnomAD
rs769170197	p.Gln10Arg	missense variant	-	NC_000002.12:g.227164755A>G	ExAC
rs774004775	p.Val11Met	missense variant	-	NC_000002.12:g.227164757G>A	ExAC
rs1260966222	p.Pro15Arg	missense variant	-	NC_000002.12:g.227164770C>G	TOPMed
rs1286962739	p.Leu17Gln	missense variant	-	NC_000002.12:g.227164776T>A	TOPMed
rs1392367404	p.Leu17Met	missense variant	-	NC_000002.12:g.227164775C>A	gnomAD
rs767333630	p.Leu18Pro	missense variant	-	NC_000002.12:g.227164779T>C	ExAC
rs898269106	p.Ala22Glu	missense variant	-	NC_000002.12:g.227164791C>A	TOPMed,gnomAD
RCV000591094	p.Ala24Gly	missense variant	-	NC_000002.12:g.227164797C>G	ClinVar
rs184704920	p.Ala24Gly	missense variant	-	NC_000002.12:g.227164797C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs139271412	p.Pro25Ser	missense variant	-	NC_000002.12:g.227164799C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000243130	p.Pro25Ser	missense variant	-	NC_000002.12:g.227164799C>T	ClinVar
rs1361533883	p.Ala26Glu	missense variant	-	NC_000002.12:g.227164803C>A	TOPMed
rs1298369205	p.Ala26Thr	missense variant	-	NC_000002.12:g.227164802G>A	gnomAD
rs1244132148	p.Ala27Asp	missense variant	-	NC_000002.12:g.227164806C>A	gnomAD
rs1327569810	p.Ala27Thr	missense variant	-	NC_000002.12:g.227164805G>A	gnomAD
rs999240932	p.Lys29Met	missense variant	-	NC_000002.12:g.227164812A>T	TOPMed,gnomAD
RCV000681943	p.Gly30Arg	missense variant	-	NC_000002.12:g.227237968G>C	ClinVar
COSM720443	p.Asp35His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227237983G>C	NCI-TCGA Cosmic
COSM1565019	p.Gly37Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227237990G>A	NCI-TCGA Cosmic
rs201607115	p.Gln38Glu	missense variant	-	NC_000002.12:g.227237992C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000380561	p.Gln38Glu	missense variant	Alport syndrome	NC_000002.12:g.227237992C>G	ClinVar
rs772640950	p.Gln38His	missense variant	-	NC_000002.12:g.227237994G>T	TOPMed,gnomAD
rs774982255	p.Gln38Arg	missense variant	-	NC_000002.12:g.227237993A>G	ExAC,TOPMed,gnomAD
rs1463080946	p.Cys39Ser	missense variant	-	NC_000002.12:g.227237995T>A	TOPMed
rs921708396	p.Cys41Tyr	missense variant	-	NC_000002.12:g.227238002G>A	gnomAD
rs747725232	p.Asp42Gly	missense variant	-	NC_000002.12:g.227238005A>G	ExAC,gnomAD
RCV000283989	p.Gly43Arg	missense variant	Alport syndrome	NC_000002.12:g.227238007G>C	ClinVar
RCV000576763	p.Gly43Arg	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227238007G>C	ClinVar
RCV000253119	p.Gly43Arg	missense variant	-	NC_000002.12:g.227238007G>C	ClinVar
rs13424243	p.Gly43Arg	missense variant	-	NC_000002.12:g.227238007G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs776294835	p.Gly43Glu	missense variant	-	NC_000002.12:g.227238008G>A	ExAC,TOPMed,gnomAD
rs13424243	p.Gly43Arg	missense variant	-	NC_000002.12:g.227238007G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs13424243	p.Gly43Trp	missense variant	-	NC_000002.12:g.227238007G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs759316147	p.Ala44Asp	missense variant	-	NC_000002.12:g.227238011C>A	ExAC,TOPMed,gnomAD
COSM1017311	p.Lys45Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227238014A>G	NCI-TCGA Cosmic
rs200866082	p.Gly46Arg	missense variant	-	NC_000002.12:g.227238016G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1441187266	p.Glu47Gln	missense variant	-	NC_000002.12:g.227238019G>C	gnomAD
rs370204395	p.Glu47Gly	missense variant	-	NC_000002.12:g.227238020A>G	ESP,ExAC,TOPMed,gnomAD
rs1207493576	p.Lys48Ter	stop gained	-	NC_000002.12:g.227238022A>T	TOPMed
rs1364744117	p.Lys48Arg	missense variant	-	NC_000002.12:g.227238023A>G	gnomAD
rs1553749403	p.Gly49Arg	missense variant	-	NC_000002.12:g.227240143G>A	-
RCV000674278	p.Gly49Arg	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227240143G>A	ClinVar
rs776332720	p.Glu50Lys	missense variant	-	NC_000002.12:g.227240146G>A	ExAC,gnomAD
rs1217941846	p.Phe53Leu	missense variant	-	NC_000002.12:g.227240157T>G	TOPMed,gnomAD
NCI-TCGA novel	p.Pro54Leu	missense variant	-	NC_000002.12:g.227240159C>T	NCI-TCGA
COSM4469623	p.Pro54Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227240158C>T	NCI-TCGA Cosmic
rs1204689662	p.Pro56Thr	missense variant	-	NC_000002.12:g.227240164C>A	TOPMed,gnomAD
rs1204689662	p.Pro56Ser	missense variant	-	NC_000002.12:g.227240164C>T	TOPMed,gnomAD
rs759289956	p.Pro57Leu	missense variant	-	NC_000002.12:g.227240168C>T	ExAC,gnomAD
RCV000681942	p.Gly58Ser	missense variant	-	NC_000002.12:g.227240170G>A	ClinVar
rs184730597	p.Gly58Ser	missense variant	-	NC_000002.12:g.227240170G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1007587977	p.Gly58Asp	missense variant	-	NC_000002.12:g.227240171G>A	TOPMed
COSM3047137	p.Gly58ValPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.227240164C>-	NCI-TCGA Cosmic
rs1481014951	p.Pro60Ser	missense variant	-	NC_000002.12:g.227240176C>T	gnomAD
NCI-TCGA novel	p.Gln62Lys	missense variant	-	NC_000002.12:g.227240182C>A	NCI-TCGA
rs917643323	p.Gly64Arg	missense variant	-	NC_000002.12:g.227240188G>A	gnomAD
rs917643323	p.Gly64Arg	missense variant	-	NC_000002.12:g.227240188G>C	gnomAD
rs1411699280	p.Thr66Ser	missense variant	-	NC_000002.12:g.227240194A>T	gnomAD
rs760798559	p.Thr66Ile	missense variant	-	NC_000002.12:g.227240195C>T	ExAC,gnomAD
rs766573165	p.Pro68Arg	missense variant	-	NC_000002.12:g.227240201C>G	ExAC,gnomAD
rs755344973	p.Glu69Ala	missense variant	-	NC_000002.12:g.227240204A>C	ExAC,TOPMed,gnomAD
rs779439998	p.Gly70Val	missense variant	-	NC_000002.12:g.227240207G>T	ExAC,gnomAD
rs758977038	p.Gly73Glu	missense variant	-	NC_000002.12:g.227240216G>A	ExAC,TOPMed,gnomAD
RCV000374898	p.Pro74Leu	missense variant	Alport syndrome	NC_000002.12:g.227240219C>T	ClinVar
RCV000735745	p.Pro74Leu	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227240219C>T	ClinVar
rs373975901	p.Pro74Leu	missense variant	-	NC_000002.12:g.227240219C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln75His	missense variant	-	NC_000002.12:g.227240223G>T	NCI-TCGA
rs1288558822	p.Gln75Lys	missense variant	-	NC_000002.12:g.227240221C>A	gnomAD
rs985132802	p.Gly76Glu	missense variant	-	NC_000002.12:g.227240225G>A	TOPMed,gnomAD
rs985132802	p.Gly76Val	missense variant	-	NC_000002.12:g.227240225G>T	TOPMed,gnomAD
rs1000732481	p.Gly76Arg	missense variant	-	NC_000002.12:g.227240224G>A	TOPMed,gnomAD
rs1049642928	p.Pro77His	missense variant	-	NC_000002.12:g.227240228C>A	gnomAD
NCI-TCGA novel	p.Lys78Thr	missense variant	-	NC_000002.12:g.227240231A>C	NCI-TCGA
rs760637313	p.Lys78Gln	missense variant	-	NC_000002.12:g.227240230A>C	ExAC,TOPMed,gnomAD
rs765487317	p.Pro81Thr	missense variant	-	NC_000002.12:g.227244326C>A	ExAC,gnomAD
rs765487317	p.Pro81Ser	missense variant	-	NC_000002.12:g.227244326C>T	ExAC,gnomAD
rs372621387	p.Leu83Phe	missense variant	-	NC_000002.12:g.227244332C>T	ESP,ExAC,TOPMed,gnomAD
rs372621387	p.Leu83Ile	missense variant	-	NC_000002.12:g.227244332C>A	ESP,ExAC,TOPMed,gnomAD
rs372621387	p.Leu83Val	missense variant	-	NC_000002.12:g.227244332C>G	ESP,ExAC,TOPMed,gnomAD
rs778209649	p.Leu83His	missense variant	-	NC_000002.12:g.227244333T>A	ExAC,TOPMed,gnomAD
rs1407306739	p.Pro84Gln	missense variant	-	NC_000002.12:g.227244336C>A	TOPMed,gnomAD
RCV000735648	p.Pro84Thr	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227244335C>A	ClinVar
rs572059687	p.Pro84Ser	missense variant	-	NC_000002.12:g.227244335C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs572059687	p.Pro84Thr	missense variant	-	NC_000002.12:g.227244335C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs377136253	p.Thr87Met	missense variant	-	NC_000002.12:g.227244345C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr87Lys	missense variant	-	NC_000002.12:g.227244345C>A	NCI-TCGA
rs1361337681	p.Gly88Cys	missense variant	-	NC_000002.12:g.227244347G>T	TOPMed,gnomAD
rs1361337681	p.Gly88Ser	missense variant	-	NC_000002.12:g.227244347G>A	TOPMed,gnomAD
rs1454096543	p.Ser89Phe	missense variant	-	NC_000002.12:g.227244351C>T	gnomAD
rs1414411811	p.Gly91Asp	missense variant	-	NC_000002.12:g.227244357G>A	TOPMed,gnomAD
rs200873401	p.Val92Leu	missense variant	-	NC_000002.12:g.227244359G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs768404745	p.Val92Glu	missense variant	-	NC_000002.12:g.227244360T>A	ExAC,TOPMed,gnomAD
rs200873401	p.Val92Ile	missense variant	-	NC_000002.12:g.227244359G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1208980444	p.Arg93Trp	missense variant	-	NC_000002.12:g.227244362A>T	TOPMed
rs780287240	p.Gly94Glu	missense variant	-	NC_000002.12:g.227244952G>A	ExAC,TOPMed,gnomAD
rs780287240	p.Gly94Val	missense variant	-	NC_000002.12:g.227244952G>T	ExAC,TOPMed,gnomAD
rs780287240	p.Gly94Ala	missense variant	-	NC_000002.12:g.227244952G>C	ExAC,TOPMed,gnomAD
rs201222896	p.Ile95Leu	missense variant	-	NC_000002.12:g.227244954A>C	TOPMed,gnomAD
COSM297862	p.Ile95Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227244954A>G	NCI-TCGA Cosmic
rs1381056489	p.Gly97Arg	missense variant	-	NC_000002.12:g.227244960G>A	gnomAD
rs768983795	p.Leu98Trp	missense variant	-	NC_000002.12:g.227244964T>G	ExAC,gnomAD
rs774434848	p.Pro99Ser	missense variant	-	NC_000002.12:g.227244966C>T	ExAC,TOPMed,gnomAD
rs762282540	p.Gly100Arg	missense variant	-	NC_000002.12:g.227244969G>A	ExAC,gnomAD
rs375028468	p.Ser102Pro	missense variant	-	NC_000002.12:g.227244975T>C	ESP,ExAC,TOPMed,gnomAD
rs1043352257	p.Gly106Ala	missense variant	-	NC_000002.12:g.227244988G>C	TOPMed
rs543390575	p.Thr110Ile	missense variant	-	NC_000002.12:g.227245958C>T	1000Genomes,ExAC,gnomAD
rs543390575	p.Thr110Ser	missense variant	-	NC_000002.12:g.227245958C>G	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Gly112Asp	missense variant	-	NC_000002.12:g.227245964G>A	NCI-TCGA
rs1469741957	p.Thr114Ser	missense variant	-	NC_000002.12:g.227245970C>G	TOPMed,gnomAD
rs1469741957	p.Thr114Asn	missense variant	-	NC_000002.12:g.227245970C>A	TOPMed,gnomAD
rs1469741957	p.Thr114Ile	missense variant	-	NC_000002.12:g.227245970C>T	TOPMed,gnomAD
rs202147112	p.Gly115Arg	missense variant	-	NC_000002.12:g.227245972G>A	ExAC,TOPMed,gnomAD
rs1408412826	p.Gly115Ala	missense variant	-	NC_000002.12:g.227245973G>C	gnomAD
RCV000735661	p.Gly115Arg	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227245972G>A	ClinVar
RCV000669553	p.Pro116Ter	frameshift	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227245974del	ClinVar
rs115324397	p.Pro116Thr	missense variant	-	NC_000002.12:g.227245975C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs115324397	p.Pro116Ser	missense variant	-	NC_000002.12:g.227245975C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000710817	p.Pro116Thr	missense variant	-	NC_000002.12:g.227245975C>A	ClinVar
RCV000668134	p.Gly118Arg	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227245981G>A	ClinVar
rs1293137291	p.Gly118Arg	missense variant	-	NC_000002.12:g.227245981G>A	TOPMed
RCV000625594	p.Gly121Ser	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227245990G>A	ClinVar
rs1230199187	p.Gly121Asp	missense variant	-	NC_000002.12:g.227245991G>A	TOPMed
rs778886174	p.Gly121Ser	missense variant	-	NC_000002.12:g.227245990G>A	ExAC,TOPMed,gnomAD
rs766935732	p.Val122Ala	missense variant	-	NC_000002.12:g.227245994T>C	TOPMed
rs748188535	p.Gly124Glu	missense variant	-	NC_000002.12:g.227246000G>A	ExAC,gnomAD
rs758630119	p.Ser126Ile	missense variant	-	NC_000002.12:g.227246006G>T	ExAC,gnomAD
rs758630119	p.Ser126Asn	missense variant	-	NC_000002.12:g.227246006G>A	ExAC,gnomAD
rs1221637579	p.Gly127Arg	missense variant	-	NC_000002.12:g.227246008G>C	gnomAD
rs886055737	p.Lys129Thr	missense variant	-	NC_000002.12:g.227246015A>C	-
RCV000280473	p.Lys129Thr	missense variant	Alport syndrome	NC_000002.12:g.227246015A>C	ClinVar
rs1285110083	p.Gly130Ser	missense variant	-	NC_000002.12:g.227246685G>A	gnomAD
RCV000674775	p.Glu131Ter	nonsense	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227246688G>T	ClinVar
rs1346138010	p.Glu131Ter	stop gained	-	NC_000002.12:g.227246688G>T	TOPMed,gnomAD
rs1213416591	p.Glu131Asp	missense variant	-	NC_000002.12:g.227246690G>C	gnomAD
rs372041612	p.Gln132Ter	stop gained	-	NC_000002.12:g.227246691C>T	ESP,ExAC,gnomAD
rs750189238	p.Gly133Val	missense variant	-	NC_000002.12:g.227246695G>T	ExAC,gnomAD
rs1490478725	p.Gly133Arg	missense variant	-	NC_000002.12:g.227246694G>A	TOPMed
rs766279179	p.Pro138Arg	missense variant	-	NC_000002.12:g.227246710C>G	ExAC,gnomAD
rs555034953	p.Thr140Ile	missense variant	-	NC_000002.12:g.227246716C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000576655	p.Leu141Pro	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227246719T>C	ClinVar
rs10178458	p.Leu141Gln	missense variant	-	NC_000002.12:g.227246719T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs10178458	p.Leu141Pro	missense variant	-	NC_000002.12:g.227246719T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000710820	p.Leu141Pro	missense variant	-	NC_000002.12:g.227246719T>C	ClinVar
RCV000399711	p.Leu141Pro	missense variant	Alport syndrome	NC_000002.12:g.227246719T>C	ClinVar
RCV000245465	p.Leu141Pro	missense variant	-	NC_000002.12:g.227246719T>C	ClinVar
rs1185966176	p.Gly142Ser	missense variant	-	NC_000002.12:g.227246721G>A	gnomAD
rs1430429868	p.Pro144Gln	missense variant	-	NC_000002.12:g.227246728C>A	gnomAD
rs781415019	p.Pro147Leu	missense variant	-	NC_000002.12:g.227246737C>T	ExAC,TOPMed,gnomAD
rs781415019	p.Pro147Arg	missense variant	-	NC_000002.12:g.227246737C>G	ExAC,TOPMed,gnomAD
rs775373641	p.Gly148Val	missense variant	-	NC_000002.12:g.227247559G>T	ExAC,TOPMed,gnomAD
RCV000786994	p.Gly148Val	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227247559G>T	ClinVar
rs1179349925	p.Ala149Thr	missense variant	-	NC_000002.12:g.227247561G>A	gnomAD
NCI-TCGA novel	p.Leu152Ser	missense variant	-	NC_000002.12:g.227247571T>C	NCI-TCGA
rs761846274	p.Gly154Arg	missense variant	-	NC_000002.12:g.227247576G>A	ExAC,gnomAD
rs764451365	p.Gly157Arg	missense variant	-	NC_000002.12:g.227248443G>C	ExAC,TOPMed,gnomAD
RCV000665296	p.Gly157Arg	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227248443G>C	ClinVar
RCV000730376	p.Gly157Arg	missense variant	-	NC_000002.12:g.227248443G>C	ClinVar
rs1384951637	p.Ala158Val	missense variant	-	NC_000002.12:g.227248447C>T	gnomAD
NCI-TCGA novel	p.Pro159Ala	missense variant	-	NC_000002.12:g.227248449C>G	NCI-TCGA
rs1380544231	p.Ala160Asp	missense variant	-	NC_000002.12:g.227248453C>A	TOPMed,gnomAD
rs369945847	p.Lys161Glu	missense variant	-	NC_000002.12:g.227248455A>G	ESP,ExAC,gnomAD
rs6436669	p.Glu162Gly	missense variant	-	NC_000002.12:g.227248459A>G	UniProt,dbSNP
VAR_011203	p.Glu162Gly	missense variant	-	NC_000002.12:g.227248459A>G	UniProt
rs6436669	p.Glu162Gly	missense variant	-	NC_000002.12:g.227248459A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000576783	p.Glu162Gly	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227248459A>G	ClinVar
RCV000242416	p.Glu162Gly	missense variant	-	NC_000002.12:g.227248459A>G	ClinVar
RCV000710826	p.Glu162Gly	missense variant	-	NC_000002.12:g.227248459A>G	ClinVar
RCV000295878	p.Glu162Gly	missense variant	Alport syndrome	NC_000002.12:g.227248459A>G	ClinVar
rs1313252073	p.Asp164Glu	missense variant	-	NC_000002.12:g.227248466T>A	TOPMed,gnomAD
rs1452221624	p.Asp164Asn	missense variant	-	NC_000002.12:g.227248464G>A	gnomAD
rs144036466	p.Ile165Thr	missense variant	-	NC_000002.12:g.227248468T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs745540374	p.Ile165Met	missense variant	-	NC_000002.12:g.227248469A>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu166Ter	stop gained	-	NC_000002.12:g.227248470G>T	NCI-TCGA
rs369769279	p.Glu166Gly	missense variant	-	NC_000002.12:g.227248471A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs779826337	p.Leu167Pro	missense variant	-	NC_000002.12:g.227248474T>C	ExAC,gnomAD
rs1156342964	p.Leu167Val	missense variant	-	NC_000002.12:g.227248473C>G	TOPMed,gnomAD
rs768701718	p.Ala169Pro	missense variant	-	NC_000002.12:g.227248479G>C	ExAC,gnomAD
rs774154890	p.Lys170Asn	missense variant	-	NC_000002.12:g.227248484A>C	ExAC,TOPMed,gnomAD
rs774154890	p.Lys170Asn	missense variant	-	NC_000002.12:g.227248484A>T	ExAC,TOPMed,gnomAD
rs1172581939	p.Gly171Arg	missense variant	-	NC_000002.12:g.227248485G>C	TOPMed
rs1310205680	p.Gly171Ala	missense variant	-	NC_000002.12:g.227248486G>C	TOPMed
rs1310205680	p.Gly171Asp	missense variant	-	NC_000002.12:g.227248486G>A	TOPMed
rs377575924	p.Asp172Asn	missense variant	-	NC_000002.12:g.227248488G>A	ESP,ExAC,TOPMed,gnomAD
rs759455097	p.Asp172Glu	missense variant	-	NC_000002.12:g.227248490C>A	ExAC,TOPMed,gnomAD
RCV000517824	p.Gly174Arg	missense variant	-	NC_000002.12:g.227248494G>A	ClinVar
rs1014839148	p.Gly174Arg	missense variant	-	NC_000002.12:g.227248494G>A	TOPMed,gnomAD
rs1469388795	p.Gly174Glu	missense variant	-	NC_000002.12:g.227248495G>A	gnomAD
rs759869958	p.Pro176Arg	missense variant	-	NC_000002.12:g.227248501C>G	ExAC,TOPMed,gnomAD
rs188324379	p.Ala178Thr	missense variant	-	NC_000002.12:g.227248506G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM1306494	p.Pro179Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227248510C>T	NCI-TCGA Cosmic
rs1318595759	p.Gly180Arg	missense variant	-	NC_000002.12:g.227248512G>A	TOPMed
rs775936375	p.Pro181Leu	missense variant	-	NC_000002.12:g.227248516C>T	ExAC,gnomAD
rs775936375	p.Pro181His	missense variant	-	NC_000002.12:g.227248516C>A	ExAC,gnomAD
rs775544184	p.Gly183Asp	missense variant	-	NC_000002.12:g.227251141G>A	ExAC,gnomAD
rs763422994	p.Leu184Phe	missense variant	-	NC_000002.12:g.227251145G>T	ExAC,gnomAD
NCI-TCGA novel	p.Gly186ThrProGlyPheProGlyLeuProGly	insertion	-	NC_000002.12:g.227251139_227251140insGGTTTGCCAGGCACTCCAGGTTTTCCT	NCI-TCGA
NCI-TCGA novel	p.Gly186Asp	missense variant	-	NC_000002.12:g.227251150G>A	NCI-TCGA
COSM5590317	p.Gly186Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227251149G>A	NCI-TCGA Cosmic
rs371173786	p.Phe190Ile	missense variant	-	NC_000002.12:g.227251161T>A	ESP,ExAC,TOPMed,gnomAD
rs371173786	p.Phe190Leu	missense variant	-	NC_000002.12:g.227251161T>C	ESP,ExAC,TOPMed,gnomAD
rs1356975221	p.Pro191Ala	missense variant	-	NC_000002.12:g.227251164C>G	TOPMed
NCI-TCGA novel	p.Pro193Ala	missense variant	-	NC_000002.12:g.227251170C>G	NCI-TCGA
rs1382090125	p.Pro193Arg	missense variant	-	NC_000002.12:g.227251171C>G	TOPMed
rs749989473	p.Val194Leu	missense variant	-	NC_000002.12:g.227251173G>C	ExAC,TOPMed,gnomAD
rs749989473	p.Val194Ile	missense variant	-	NC_000002.12:g.227251173G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro197Ser	missense variant	-	NC_000002.12:g.227251182C>T	NCI-TCGA
rs1308419924	p.Pro197Arg	missense variant	-	NC_000002.12:g.227251183C>G	TOPMed,gnomAD
rs1403052940	p.Gly198Ser	missense variant	-	NC_000002.12:g.227251185G>A	gnomAD
COSM720438	p.Pro199Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227251188C>A	NCI-TCGA Cosmic
rs368480491	p.Pro200Leu	missense variant	-	NC_000002.12:g.227251192C>T	ESP,ExAC,TOPMed,gnomAD
rs1192698671	p.Gly201Glu	missense variant	-	NC_000002.12:g.227251195G>A	TOPMed
rs1343871396	p.Phe202Ser	missense variant	-	NC_000002.12:g.227251198T>C	gnomAD
rs754613272	p.Phe202Leu	missense variant	-	NC_000002.12:g.227251197T>C	ExAC,gnomAD
rs1286616395	p.Pro206Thr	missense variant	-	NC_000002.12:g.227251342C>A	gnomAD
rs1366863434	p.Gly207Val	missense variant	-	NC_000002.12:g.227251346G>T	gnomAD
NCI-TCGA novel	p.Ala208Thr	missense variant	-	NC_000002.12:g.227251348G>A	NCI-TCGA
rs768853275	p.Pro211Ala	missense variant	-	NC_000002.12:g.227251357C>G	ExAC,gnomAD
rs768853275	p.Pro211Ser	missense variant	-	NC_000002.12:g.227251357C>T	ExAC,gnomAD
rs774589394	p.Arg212Thr	missense variant	-	NC_000002.12:g.227251361G>C	ExAC,gnomAD
RCV000518723	p.Gly213Arg	missense variant	-	NC_000002.12:g.227251363G>A	ClinVar
rs1553752192	p.Gly213Arg	missense variant	-	NC_000002.12:g.227251363G>A	-
rs1382453187	p.Pro214Ser	missense variant	-	NC_000002.12:g.227251366C>T	gnomAD
rs914548534	p.Pro214His	missense variant	-	NC_000002.12:g.227251367C>A	TOPMed,gnomAD
rs1169752185	p.Gly216Ser	missense variant	-	NC_000002.12:g.227253296G>A	TOPMed
rs1262681864	p.His217Tyr	missense variant	-	NC_000002.12:g.227253299C>T	gnomAD
rs1316826351	p.Gly219Cys	missense variant	-	NC_000002.12:g.227253305G>T	gnomAD
rs779098331	p.Glu220Lys	missense variant	-	NC_000002.12:g.227253308G>A	ExAC,gnomAD
rs748548607	p.Val222Met	missense variant	-	NC_000002.12:g.227253314G>A	ExAC,gnomAD
rs772407219	p.Ile223Thr	missense variant	-	NC_000002.12:g.227253318T>C	ExAC,TOPMed,gnomAD
rs1269093075	p.His225Arg	missense variant	-	NC_000002.12:g.227253324A>G	TOPMed
rs367635426	p.His225Gln	missense variant	-	NC_000002.12:g.227253325T>G	ESP,ExAC,gnomAD
rs771403339	p.Lys226Glu	missense variant	-	NC_000002.12:g.227253326A>G	ExAC,gnomAD
COSM3578458	p.Gly227Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227253329G>A	NCI-TCGA Cosmic
rs1203851108	p.Glu228Gln	missense variant	-	NC_000002.12:g.227253332G>C	TOPMed
RCV000658171	p.Arg229Leu	missense variant	-	NC_000002.12:g.227253336G>T	ClinVar
rs759074046	p.Arg229Trp	missense variant	-	NC_000002.12:g.227253335C>T	ExAC,TOPMed,gnomAD
rs188942711	p.Arg229Leu	missense variant	-	NC_000002.12:g.227253336G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs188942711	p.Arg229Gln	missense variant	-	NC_000002.12:g.227253336G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1387958698	p.Gly230Val	missense variant	-	NC_000002.12:g.227253562G>T	gnomAD
rs747868845	p.Val231Ala	missense variant	-	NC_000002.12:g.227253565T>C	ExAC,gnomAD
rs1455775497	p.Val231Met	missense variant	-	NC_000002.12:g.227253564G>A	gnomAD
rs1453982069	p.Gly233Glu	missense variant	-	NC_000002.12:g.227253571G>A	TOPMed
NCI-TCGA novel	p.Leu234Ser	missense variant	-	NC_000002.12:g.227253574T>C	NCI-TCGA
rs746794832	p.Thr235Lys	missense variant	-	NC_000002.12:g.227253577C>A	ExAC,gnomAD
rs1310347317	p.Pro237Ser	missense variant	-	NC_000002.12:g.227253582C>T	gnomAD
COSM720436	p.Pro237Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227253582C>A	NCI-TCGA Cosmic
rs776059644	p.Pro238Leu	missense variant	-	NC_000002.12:g.227253586C>T	ExAC,TOPMed,gnomAD
rs776059644	p.Pro238Arg	missense variant	-	NC_000002.12:g.227253586C>G	ExAC,TOPMed,gnomAD
rs1404300672	p.Pro238Ser	missense variant	-	NC_000002.12:g.227253585C>T	TOPMed
RCV000669524	p.Pro240Ter	frameshift	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227253586dup	ClinVar
rs1210114948	p.Pro241Ser	missense variant	-	NC_000002.12:g.227253594C>T	gnomAD
rs1210114948	p.Pro241Ala	missense variant	-	NC_000002.12:g.227253594C>G	gnomAD
rs774226506	p.Val244Ala	missense variant	-	NC_000002.12:g.227253604T>C	ExAC,gnomAD
rs767620544	p.Ile245Asn	missense variant	-	NC_000002.12:g.227253607T>A	ExAC,TOPMed,gnomAD
rs767620544	p.Ile245Thr	missense variant	-	NC_000002.12:g.227253607T>C	ExAC,TOPMed,gnomAD
rs762108915	p.Ile245Val	missense variant	-	NC_000002.12:g.227253606A>G	ExAC,gnomAD
rs756512062	p.Val246Met	missense variant	-	NC_000002.12:g.227253609G>A	ExAC,gnomAD
rs756512062	p.Val246Leu	missense variant	-	NC_000002.12:g.227253609G>C	ExAC,gnomAD
rs756512062	p.Val246Leu	missense variant	-	NC_000002.12:g.227253609G>T	ExAC,gnomAD
rs1425969633	p.Thr247Asn	missense variant	-	NC_000002.12:g.227253613C>A	gnomAD
rs910343678	p.Leu248Val	missense variant	-	NC_000002.12:g.227253615C>G	TOPMed
rs1246728008	p.Thr249Ile	missense variant	-	NC_000002.12:g.227253619C>T	TOPMed
rs976897521	p.Thr249Ser	missense variant	-	NC_000002.12:g.227253618A>T	TOPMed,gnomAD
rs976897521	p.Thr249Ala	missense variant	-	NC_000002.12:g.227253618A>G	TOPMed,gnomAD
RCV000516996	p.Asp252Glu	missense variant	-	NC_000002.12:g.227253629T>A	ClinVar
rs1412919917	p.Asp252Glu	missense variant	-	NC_000002.12:g.227253629T>A	TOPMed,gnomAD
NCI-TCGA novel	p.Asn253Asp	missense variant	-	NC_000002.12:g.227253630A>G	NCI-TCGA
rs755505644	p.Arg254Lys	missense variant	-	NC_000002.12:g.227253634G>A	ExAC,gnomAD
rs755505644	p.Arg254Thr	missense variant	-	NC_000002.12:g.227253634G>C	ExAC,gnomAD
RCV000770773	p.Thr255Met	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227253637C>T	ClinVar
rs573527081	p.Thr255Met	missense variant	-	NC_000002.12:g.227253637C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs573527081	p.Thr255Lys	missense variant	-	NC_000002.12:g.227253637C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs966583523	p.Asp256Glu	missense variant	-	NC_000002.12:g.227254114C>A	TOPMed,gnomAD
rs756835803	p.Asp256Gly	missense variant	-	NC_000002.12:g.227254113A>G	ExAC,gnomAD
COSM1017318	p.Leu257Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227254115C>A	NCI-TCGA Cosmic
rs999826591	p.Lys258Arg	missense variant	-	NC_000002.12:g.227254119A>G	gnomAD
rs780977535	p.Gly259Arg	missense variant	-	NC_000002.12:g.227254121G>A	ExAC,gnomAD
NCI-TCGA novel	p.Glu260Gly	missense variant	-	NC_000002.12:g.227254125A>G	NCI-TCGA
NCI-TCGA novel	p.Lys261ArgPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.227254125A>-	NCI-TCGA
rs769837137	p.Lys261Arg	missense variant	-	NC_000002.12:g.227254128A>G	ExAC,TOPMed,gnomAD
rs866653520	p.Gly262Arg	missense variant	-	NC_000002.12:g.227254130G>A	-
rs779821655	p.Asp263Glu	missense variant	-	NC_000002.12:g.227254135C>G	ExAC,gnomAD
rs374787000	p.Gly265Arg	missense variant	-	NC_000002.12:g.227254139G>A	ESP
COSM3578459	p.Gly265Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227254140G>A	NCI-TCGA Cosmic
rs772064733	p.Met267Thr	missense variant	-	NC_000002.12:g.227254146T>C	ExAC,TOPMed,gnomAD
rs748304803	p.Met267Val	missense variant	-	NC_000002.12:g.227254145A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Met267Ile	missense variant	-	NC_000002.12:g.227254147G>T	NCI-TCGA
rs1448108531	p.Gly268Asp	missense variant	-	NC_000002.12:g.227254149G>A	TOPMed
RCV000391399	p.Glu269Lys	missense variant	Alport syndrome	NC_000002.12:g.227254151G>A	ClinVar
rs80109666	p.Glu269Lys	missense variant	-	NC_000002.12:g.227254151G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1428766417	p.Pro270Thr	missense variant	-	NC_000002.12:g.227254154C>A	TOPMed
NCI-TCGA novel	p.Pro273Thr	missense variant	-	NC_000002.12:g.227254163C>A	NCI-TCGA
rs1294995743	p.Pro275Thr	missense variant	-	NC_000002.12:g.227254169C>A	gnomAD
rs372626966	p.Pro275Leu	missense variant	-	NC_000002.12:g.227254170C>T	ESP,ExAC,TOPMed,gnomAD
rs1219659689	p.Ser276Leu	missense variant	-	NC_000002.12:g.227254173C>T	TOPMed
COSM6090716	p.Leu278Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227254660T>A	NCI-TCGA Cosmic
RCV000490447	p.Pro279Ter	frameshift	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227254660dup	ClinVar
NCI-TCGA novel	p.Pro279Thr	missense variant	-	NC_000002.12:g.227254662C>A	NCI-TCGA
COSM3838759	p.Pro279Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227254662C>G	NCI-TCGA Cosmic
rs551480904	p.Gly280Glu	missense variant	-	NC_000002.12:g.227254666G>A	1000Genomes,ExAC,gnomAD
rs551480904	p.Gly280Val	missense variant	-	NC_000002.12:g.227254666G>T	1000Genomes,ExAC,gnomAD
rs1216183431	p.Tyr283His	missense variant	-	NC_000002.12:g.227254674T>C	gnomAD
rs1236660987	p.Tyr283Cys	missense variant	-	NC_000002.12:g.227254675A>G	gnomAD
rs1236660987	p.Tyr283Phe	missense variant	-	NC_000002.12:g.227254675A>T	gnomAD
NCI-TCGA novel	p.Glu286Gln	missense variant	-	NC_000002.12:g.227254683G>C	NCI-TCGA
rs775885177	p.Ala289Val	missense variant	-	NC_000002.12:g.227254693C>T	ExAC,gnomAD
NCI-TCGA novel	p.Pro290Thr	missense variant	-	NC_000002.12:g.227254695C>A	NCI-TCGA
RCV000681788	p.Gly291Glu	missense variant	-	NC_000002.12:g.227254699G>A	ClinVar
rs1425230568	p.Gly291Ala	missense variant	-	NC_000002.12:g.227254699G>C	TOPMed
RCV000519688	p.Gly294Asp	missense variant	-	NC_000002.12:g.227254708G>A	ClinVar
rs1553753137	p.Gly294Asp	missense variant	-	NC_000002.12:g.227254708G>A	-
rs1422638161	p.Gly297Glu	missense variant	-	NC_000002.12:g.227256027G>A	gnomAD
RCV000664514	p.Gly297Glu	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227256027G>A	ClinVar
VAR_011204	p.Gly297Glu	Missense	Alport syndrome 2, autosomal recessive (ATS2) [MIM:203780]	-	UniProt
NCI-TCGA novel	p.Lys298Asn	missense variant	-	NC_000002.12:g.227256031A>T	NCI-TCGA
rs772708743	p.Gly300Arg	missense variant	-	NC_000002.12:g.227256035G>A	ExAC,gnomAD
NCI-TCGA novel	p.Asp302His	missense variant	-	NC_000002.12:g.227256041G>C	NCI-TCGA
NCI-TCGA novel	p.Gly303Asp	missense variant	-	NC_000002.12:g.227256045G>A	NCI-TCGA
rs766043773	p.Val304Phe	missense variant	-	NC_000002.12:g.227256047G>T	ExAC,gnomAD
rs766043773	p.Val304Ile	missense variant	-	NC_000002.12:g.227256047G>A	ExAC,gnomAD
rs754792573	p.Pro305Ser	missense variant	-	NC_000002.12:g.227256050C>T	ExAC,gnomAD
NCI-TCGA novel	p.Phe307Ser	missense variant	-	NC_000002.12:g.227256057T>C	NCI-TCGA
rs765318949	p.Pro308Ser	missense variant	-	NC_000002.12:g.227256059C>T	ExAC,gnomAD
COSM1405950	p.Glu311Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227256070G>C	NCI-TCGA Cosmic
rs765155738	p.Val313Ala	missense variant	-	NC_000002.12:g.227256347T>C	ExAC,gnomAD
rs752474805	p.Lys314Thr	missense variant	-	NC_000002.12:g.227256350A>C	ExAC,TOPMed,gnomAD
rs1287109722	p.Gly315Val	missense variant	-	NC_000002.12:g.227256353G>T	gnomAD
RCV000668719	p.Arg317Ter	frameshift	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227256358_227256359del	ClinVar
RCV000681798	p.Gly318Asp	missense variant	-	NC_000002.12:g.227256362G>A	ClinVar
rs1024211291	p.Phe319Leu	missense variant	-	NC_000002.12:g.227256366C>A	TOPMed
COSM442418	p.Leu322Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227256373T>A	NCI-TCGA Cosmic
rs566993466	p.Gly324Asp	missense variant	-	NC_000002.12:g.227256380G>A	1000Genomes,ExAC,gnomAD
rs1401162986	p.Glu325Ala	missense variant	-	NC_000002.12:g.227256383A>C	TOPMed
COSM4092076	p.Glu325Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227256383A>G	NCI-TCGA Cosmic
rs55703767	p.Asp326Asn	missense variant	-	NC_000002.12:g.227256385G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000306912	p.Asp326Tyr	missense variant	Alport syndrome	NC_000002.12:g.227256385G>T	ClinVar
rs55703767	p.Asp326Tyr	missense variant	-	NC_000002.12:g.227256385G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs55703767	p.Asp326Tyr	missense variant	-	NC_000002.12:g.227256385G>T	UniProt,dbSNP
VAR_011205	p.Asp326Tyr	missense variant	-	NC_000002.12:g.227256385G>T	UniProt
rs779948497	p.Gly327Ala	missense variant	-	NC_000002.12:g.227256389G>C	ExAC,TOPMed,gnomAD
rs1435232414	p.Gly330Arg	missense variant	-	NC_000002.12:g.227257603G>C	gnomAD
rs369701669	p.Gln331His	missense variant	-	NC_000002.12:g.227257608G>C	ESP,ExAC,TOPMed,gnomAD
rs369701669	p.Gln331His	missense variant	-	NC_000002.12:g.227257608G>T	ESP,ExAC,TOPMed,gnomAD
rs768527987	p.Gln331Ter	stop gained	-	NC_000002.12:g.227257606C>T	ExAC,gnomAD
rs761819520	p.Gly333Arg	missense variant	-	NC_000002.12:g.227257612G>A	ExAC
rs1057519376	p.Gly333Ala	missense variant	-	NC_000002.12:g.227257613G>C	-
RCV000416934	p.Gly333Ala	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227257613G>C	ClinVar
rs767340735	p.Asp334His	missense variant	-	NC_000002.12:g.227257615G>C	ExAC,gnomAD
rs767340735	p.Asp334Asn	missense variant	-	NC_000002.12:g.227257615G>A	ExAC,gnomAD
COSM1017321	p.Asp334Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227257616A>G	NCI-TCGA Cosmic
RCV000681935	p.Gly336Cys	missense variant	-	NC_000002.12:g.227257621G>T	ClinVar
rs934552387	p.Pro337His	missense variant	-	NC_000002.12:g.227257625C>A	TOPMed
COSM3578461	p.Pro337Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227257625C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly339Arg	missense variant	-	NC_000002.12:g.227257630G>A	NCI-TCGA
rs200738124	p.Arg341His	missense variant	-	NC_000002.12:g.227257637G>A	TOPMed
rs778166354	p.Arg341Ser	missense variant	-	NC_000002.12:g.227257636C>A	ExAC,TOPMed,gnomAD
RCV000735662	p.Arg341His	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227257637G>A	ClinVar
rs200738124	p.Arg341Pro	missense variant	-	NC_000002.12:g.227257637G>C	TOPMed
rs778166354	p.Arg341Cys	missense variant	-	NC_000002.12:g.227257636C>T	ExAC,TOPMed,gnomAD
rs565527848	p.Thr344Ser	missense variant	-	NC_000002.12:g.227259793A>T	1000Genomes,ExAC,gnomAD
rs760561462	p.Glu345Lys	missense variant	-	NC_000002.12:g.227259796G>A	ExAC,TOPMed,gnomAD
rs1485715311	p.Tyr347Cys	missense variant	-	NC_000002.12:g.227259803A>G	TOPMed
rs765336013	p.Tyr347Asn	missense variant	-	NC_000002.12:g.227259802T>A	ExAC,TOPMed,gnomAD
rs764210323	p.Gln351Pro	missense variant	-	NC_000002.12:g.227259815A>C	ExAC,TOPMed,gnomAD
rs1218470259	p.Gln351Ter	stop gained	-	NC_000002.12:g.227259814C>T	TOPMed
rs752030126	p.Glu356Lys	missense variant	-	NC_000002.12:g.227259829G>A	ExAC,gnomAD
rs757538073	p.Pro359Ala	missense variant	-	NC_000002.12:g.227259838C>G	ExAC,TOPMed,gnomAD
rs767943108	p.Pro362Ser	missense variant	-	NC_000002.12:g.227259847C>T	ExAC,gnomAD
RCV000681934	p.Gly363Arg	missense variant	-	NC_000002.12:g.227259850G>A	ClinVar
rs756618387	p.Pro364Ala	missense variant	-	NC_000002.12:g.227259853C>G	ExAC,gnomAD
rs779724492	p.Pro364Leu	missense variant	-	NC_000002.12:g.227259854C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly366Glu	missense variant	-	NC_000002.12:g.227259860G>A	NCI-TCGA
rs539765620	p.Gly366Arg	missense variant	-	NC_000002.12:g.227259859G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs748026747	p.Arg368His	missense variant	-	NC_000002.12:g.227259866G>A	ExAC,TOPMed,gnomAD
rs778397487	p.Arg368Cys	missense variant	-	NC_000002.12:g.227259865C>T	ExAC,gnomAD
COSM3578462	p.Pro370Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227259872C>T	NCI-TCGA Cosmic
rs199543633	p.Gln371Leu	missense variant	-	NC_000002.12:g.227259875A>T	TOPMed,gnomAD
rs1330087669	p.Gln371His	missense variant	-	NC_000002.12:g.227259876A>C	TOPMed,gnomAD
rs199543633	p.Gln371Arg	missense variant	-	NC_000002.12:g.227259875A>G	TOPMed,gnomAD
rs1275209481	p.Gly372Ser	missense variant	-	NC_000002.12:g.227259877G>A	gnomAD
rs1274556576	p.Pro373Leu	missense variant	-	NC_000002.12:g.227261085C>T	gnomAD
rs760049264	p.Pro376Arg	missense variant	-	NC_000002.12:g.227261094C>G	ExAC,TOPMed,gnomAD
rs760049264	p.Pro376Leu	missense variant	-	NC_000002.12:g.227261094C>T	ExAC,TOPMed,gnomAD
RCV000518062	p.Pro376Leu	missense variant	-	NC_000002.12:g.227261094C>T	ClinVar
rs1458310517	p.Pro377Ser	missense variant	-	NC_000002.12:g.227261096C>T	TOPMed
rs1412082820	p.Pro377Arg	missense variant	-	NC_000002.12:g.227261097C>G	TOPMed
NCI-TCGA novel	p.Gly378GluPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.227261093C>-	NCI-TCGA
rs1437973419	p.Pro380Ser	missense variant	-	NC_000002.12:g.227261105C>T	TOPMed,gnomAD
rs1437973419	p.Pro380Thr	missense variant	-	NC_000002.12:g.227261105C>A	TOPMed,gnomAD
RCV000681752	p.Gly381Arg	missense variant	-	NC_000002.12:g.227261108G>C	ClinVar
rs1383954433	p.Ser386Leu	missense variant	-	NC_000002.12:g.227263786C>T	gnomAD
rs1380325246	p.Gly389Ala	missense variant	-	NC_000002.12:g.227263795G>C	TOPMed,gnomAD
rs1380325246	p.Gly389Asp	missense variant	-	NC_000002.12:g.227263795G>A	TOPMed,gnomAD
COSM3578464	p.Arg391Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227263801G>A	NCI-TCGA Cosmic
rs1114167371	p.Gly392Glu	missense variant	-	NC_000002.12:g.227263804G>A	-
RCV000490752	p.Gly392Glu	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227263804G>A	ClinVar
rs1320127585	p.Ala393Ser	missense variant	-	NC_000002.12:g.227263806G>T	gnomAD
RCV000493906	p.Gly395Glu	missense variant	-	NC_000002.12:g.227263813G>A	ClinVar
rs1131691738	p.Gly395Glu	missense variant	-	NC_000002.12:g.227263813G>A	-
rs1348174898	p.Trp396Cys	missense variant	-	NC_000002.12:g.227263817G>T	TOPMed
NCI-TCGA novel	p.Pro397Ser	missense variant	-	NC_000002.12:g.227263818C>T	NCI-TCGA
rs1240263729	p.Lys400Arg	missense variant	-	NC_000002.12:g.227263828A>G	TOPMed
rs1405861501	p.Gly401Ala	missense variant	-	NC_000002.12:g.227263831G>C	gnomAD
RCV000681888	p.Gly401Arg	missense variant	-	NC_000002.12:g.227263830G>A	ClinVar
COSM4901490	p.Gly401Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227263831G>A	NCI-TCGA Cosmic
RCV000589718	p.Arg406Ter	nonsense	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227263845C>T	ClinVar
rs373952897	p.Arg406Gln	missense variant	-	NC_000002.12:g.227263846G>A	ESP,ExAC,TOPMed,gnomAD
rs371334239	p.Arg406Ter	stop gained	-	NC_000002.12:g.227263845C>T	ESP,TOPMed,gnomAD
RCV000779311	p.Gly407Arg	missense variant	COL4A3-Related Disorders	NC_000002.12:g.227263848G>C	ClinVar
VAR_011206	p.Gly407Arg	Missense	Alport syndrome 2, autosomal recessive (ATS2) [MIM:203780]	-	UniProt
rs756863324	p.Arg408Cys	missense variant	-	NC_000002.12:g.227263851C>T	ExAC,TOPMed,gnomAD
RCV000267017	p.Arg408His	missense variant	Alport syndrome	NC_000002.12:g.227263852G>A	ClinVar
rs34505188	p.Arg408His	missense variant	-	NC_000002.12:g.227263852G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1350342816	p.Gly410Glu	missense variant	-	NC_000002.12:g.227263858G>A	gnomAD
rs756073120	p.Ala413Thr	missense variant	-	NC_000002.12:g.227263866G>A	ExAC,gnomAD
COSM230959	p.Met414Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227263871G>A	NCI-TCGA Cosmic
rs780107628	p.Gly415Arg	missense variant	-	NC_000002.12:g.227263872G>A	ExAC,gnomAD
rs373390728	p.Pro417Ser	missense variant	-	NC_000002.12:g.227263878C>T	ESP,ExAC,TOPMed,gnomAD
RCV000324429	p.Ser419Tyr	missense variant	Alport syndrome	NC_000002.12:g.227263885C>A	ClinVar
rs201031986	p.Ser419Tyr	missense variant	-	NC_000002.12:g.227263885C>A	ESP,ExAC,TOPMed,gnomAD
rs201031986	p.Ser419Cys	missense variant	-	NC_000002.12:g.227263885C>G	ESP,ExAC,TOPMed,gnomAD
rs1363441287	p.Gly421Ser	missense variant	-	NC_000002.12:g.227263890G>A	gnomAD
rs771127389	p.Gly421Val	missense variant	-	NC_000002.12:g.227263891G>T	ExAC,gnomAD
rs1160105048	p.Cys422Tyr	missense variant	-	NC_000002.12:g.227263894G>A	TOPMed,gnomAD
rs1385457679	p.Ala423Gly	missense variant	-	NC_000002.12:g.227263897C>G	gnomAD
rs776919202	p.Gly424Cys	missense variant	-	NC_000002.12:g.227263899G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu428Pro	missense variant	-	NC_000002.12:g.227263912T>C	NCI-TCGA
rs1230346166	p.Ser431Pro	missense variant	-	NC_000002.12:g.227263920T>C	TOPMed,gnomAD
rs534253913	p.Pro432Leu	missense variant	-	NC_000002.12:g.227263924C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000665542	p.Pro432Leu	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227263924C>T	ClinVar
rs1333655108	p.Pro434Leu	missense variant	-	NC_000002.12:g.227263930C>T	gnomAD
rs1237274947	p.Gly436Ala	missense variant	-	NC_000002.12:g.227263936G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Gly436Glu	missense variant	-	NC_000002.12:g.227263936G>A	NCI-TCGA
NCI-TCGA novel	p.Gly436Arg	missense variant	-	NC_000002.12:g.227263935G>A	NCI-TCGA
rs148686474	p.Pro437Arg	missense variant	-	NC_000002.12:g.227263939C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs148686474	p.Pro437Leu	missense variant	-	NC_000002.12:g.227263939C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs763403545	p.Pro437Ser	missense variant	-	NC_000002.12:g.227263938C>T	ExAC,gnomAD
RCV000516321	p.Pro437Ser	missense variant	-	NC_000002.12:g.227263938C>T	ClinVar
RCV000666899	p.Gly439Ser	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227263944G>A	ClinVar
rs770219564	p.Gly439Val	missense variant	-	NC_000002.12:g.227266417G>T	ExAC,TOPMed,gnomAD
rs1553755124	p.Gly439Ser	missense variant	-	NC_000002.12:g.227263944G>A	-
rs770219564	p.Gly439Asp	missense variant	-	NC_000002.12:g.227266417G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp440Asn	missense variant	-	NC_000002.12:g.227266419G>A	NCI-TCGA
rs749806341	p.Val442Ile	missense variant	-	NC_000002.12:g.227266425G>A	ExAC,TOPMed,gnomAD
rs769134662	p.Phe443Ser	missense variant	-	NC_000002.12:g.227266429T>C	ExAC,gnomAD
rs761355107	p.Arg444Pro	missense variant	-	NC_000002.12:g.227266432G>C	ExAC,TOPMed,gnomAD
rs761355107	p.Arg444His	missense variant	-	NC_000002.12:g.227266432G>A	ExAC,TOPMed,gnomAD
rs773914532	p.Arg444Cys	missense variant	-	NC_000002.12:g.227266431C>T	ExAC,TOPMed,gnomAD
rs773914532	p.Arg444Ser	missense variant	-	NC_000002.12:g.227266431C>A	ExAC,TOPMed,gnomAD
rs771670523	p.Gly446Ala	missense variant	-	NC_000002.12:g.227266438G>C	ExAC,gnomAD
rs771670523	p.Gly446Val	missense variant	-	NC_000002.12:g.227266438G>T	ExAC,gnomAD
NCI-TCGA novel	p.Pro447Gln	missense variant	-	NC_000002.12:g.227266441C>A	NCI-TCGA
NCI-TCGA novel	p.Pro448His	missense variant	-	NC_000002.12:g.227266444C>A	NCI-TCGA
rs760203599	p.Gly449Arg	missense variant	-	NC_000002.12:g.227266446G>C	ExAC,gnomAD
RCV000722807	p.Asp450GluArg	missense variant	-	NC_000002.12:g.227266451_227266453delinsACG	ClinVar
rs11677877	p.His451Arg	missense variant	-	NC_000002.12:g.227266453A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1370839845	p.His451Asn	missense variant	-	NC_000002.12:g.227266452C>A	gnomAD
RCV000357978	p.His451Arg	missense variant	Alport syndrome	NC_000002.12:g.227266453A>G	ClinVar
rs772958162	p.Gly452Arg	missense variant	-	NC_000002.12:g.227266455G>A	ExAC,gnomAD
RCV000666502	p.Gly452Arg	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227266455G>A	ClinVar
RCV000681919	p.Gly452Arg	missense variant	-	NC_000002.12:g.227266455G>A	ClinVar
rs772958162	p.Gly452Ter	stop gained	-	NC_000002.12:g.227266455G>T	ExAC,gnomAD
rs374905404	p.Pro454Gln	missense variant	-	NC_000002.12:g.227266462C>A	ESP,ExAC,TOPMed,gnomAD
rs983894945	p.Pro454Thr	missense variant	-	NC_000002.12:g.227266461C>A	TOPMed,gnomAD
NCI-TCGA novel	p.Gly455Cys	missense variant	-	NC_000002.12:g.227266464G>T	NCI-TCGA
rs757341933	p.Gly458Arg	missense variant	-	NC_000002.12:g.227266473G>C	ExAC,TOPMed,gnomAD
RCV000763078	p.Gly458Arg	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227266473G>C	ClinVar
rs757341933	p.Gly458Arg	missense variant	-	NC_000002.12:g.227266473G>A	ExAC,TOPMed,gnomAD
RCV000517256	p.Gly458Arg	missense variant	-	NC_000002.12:g.227266473G>C	ClinVar
NCI-TCGA novel	p.Ser459Tyr	missense variant	-	NC_000002.12:g.227266477C>A	NCI-TCGA
rs371585017	p.Pro460Leu	missense variant	-	NC_000002.12:g.227266480C>T	ESP,TOPMed,gnomAD
rs1135401954	p.Gly461Arg	missense variant	-	NC_000002.12:g.227266482G>C	-
RCV000496506	p.Gly461Arg	missense variant	Alport syndrome	NC_000002.12:g.227266482G>C	ClinVar
rs781085205	p.Pro463Ser	missense variant	-	NC_000002.12:g.227266488C>T	ExAC,TOPMed,gnomAD
rs750692670	p.Val465Ile	missense variant	-	NC_000002.12:g.227266494G>A	ExAC,gnomAD
rs541071302	p.Asp466Asn	missense variant	-	NC_000002.12:g.227266497G>A	TOPMed
rs201088233	p.Gly467Arg	missense variant	-	NC_000002.12:g.227266500G>C	1000Genomes,ExAC,gnomAD
rs1201002988	p.Lys469Arg	missense variant	-	NC_000002.12:g.227266507A>G	TOPMed
rs1488723436	p.Lys469Asn	missense variant	-	NC_000002.12:g.227266508A>C	gnomAD
rs1374913023	p.Pro472Thr	missense variant	-	NC_000002.12:g.227266998C>A	gnomAD
rs1413028515	p.Gly473Asp	missense variant	-	NC_000002.12:g.227267002G>A	gnomAD
rs766554081	p.Leu474Pro	missense variant	-	NC_000002.12:g.227267005T>C	ExAC,gnomAD
rs886055738	p.Leu475Val	missense variant	-	NC_000002.12:g.227267007C>G	gnomAD
rs754249385	p.Leu475Gln	missense variant	-	NC_000002.12:g.227267008T>A	ExAC,gnomAD
RCV000318428	p.Leu475Val	missense variant	Alport syndrome	NC_000002.12:g.227267007C>G	ClinVar
rs1041119510	p.Cys476Tyr	missense variant	-	NC_000002.12:g.227267011G>A	TOPMed,gnomAD
rs1041119510	p.Cys476Ser	missense variant	-	NC_000002.12:g.227267011G>C	TOPMed,gnomAD
rs755356916	p.Cys479Gly	missense variant	-	NC_000002.12:g.227267019T>G	ExAC,TOPMed,gnomAD
rs755356916	p.Cys479Arg	missense variant	-	NC_000002.12:g.227267019T>C	ExAC,TOPMed,gnomAD
rs758774822	p.Tyr481His	missense variant	-	NC_000002.12:g.227267025T>C	ExAC,TOPMed,gnomAD
rs777401300	p.Gly484Arg	missense variant	-	NC_000002.12:g.227267034G>A	ExAC,TOPMed,gnomAD
COSM3991116	p.Gly484Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227267035G>T	NCI-TCGA Cosmic
rs372903565	p.Pro486Leu	missense variant	-	NC_000002.12:g.227267041C>T	ESP,ExAC,TOPMed,gnomAD
rs745472969	p.Gly487Cys	missense variant	-	NC_000002.12:g.227267043G>T	ExAC,TOPMed,gnomAD
rs745472969	p.Gly487Ser	missense variant	-	NC_000002.12:g.227267043G>A	ExAC,TOPMed,gnomAD
rs745472969	p.Gly487Arg	missense variant	-	NC_000002.12:g.227267043G>C	ExAC,TOPMed,gnomAD
RCV000673812	p.Gly487Cys	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227267043G>T	ClinVar
rs1402044849	p.Leu488Ile	missense variant	-	NC_000002.12:g.227267046C>A	gnomAD
rs1159721123	p.Gly490Val	missense variant	-	NC_000002.12:g.227267053G>T	gnomAD
rs1256505387	p.Gly490Arg	missense variant	-	NC_000002.12:g.227267052G>C	TOPMed
RCV000519515	p.His495Tyr	missense variant	-	NC_000002.12:g.227267067C>T	ClinVar
RCV000259762	p.His495Tyr	missense variant	Alport syndrome	NC_000002.12:g.227267067C>T	ClinVar
rs200510532	p.His495Tyr	missense variant	-	NC_000002.12:g.227267067C>T	ESP,ExAC,TOPMed,gnomAD
rs763002740	p.His495Arg	missense variant	-	NC_000002.12:g.227267068A>G	ExAC,gnomAD
rs1317246081	p.Val497Ile	missense variant	-	NC_000002.12:g.227267073G>A	TOPMed,gnomAD
rs200207635	p.Lys498Asn	missense variant	-	NC_000002.12:g.227267078A>C	gnomAD
rs1369808489	p.Pro501Leu	missense variant	-	NC_000002.12:g.227267086C>T	TOPMed
rs1434266764	p.Arg503Ile	missense variant	-	NC_000002.12:g.227269913G>T	TOPMed
RCV000317299	p.Ala506Thr	missense variant	Alport syndrome	NC_000002.12:g.227269921G>A	ClinVar
rs188967260	p.Ala506Thr	missense variant	-	NC_000002.12:g.227269921G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1425935146	p.Ala507Pro	missense variant	-	NC_000002.12:g.227269924G>C	gnomAD
rs1466313487	p.Gly508Ser	missense variant	-	NC_000002.12:g.227269927G>A	gnomAD
rs757774756	p.Gly508Asp	missense variant	-	NC_000002.12:g.227269928G>A	ExAC,TOPMed,gnomAD
rs780865844	p.Lys510Asn	missense variant	-	NC_000002.12:g.227269935A>C	ExAC
rs921768118	p.Gly511Arg	missense variant	-	NC_000002.12:g.227269936G>A	TOPMed
rs1325817960	p.Leu521Phe	missense variant	-	NC_000002.12:g.227269966C>T	gnomAD
COSM4834123	p.Leu521Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227269966C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro522Ser	missense variant	-	NC_000002.12:g.227269969C>T	NCI-TCGA
COSM4092082	p.Gly526Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227270770G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Phe527Ser	missense variant	-	NC_000002.12:g.227270774T>C	NCI-TCGA
rs367868483	p.Pro528Leu	missense variant	-	NC_000002.12:g.227270777C>T	ESP,TOPMed
rs779575469	p.Gly532Arg	missense variant	-	NC_000002.12:g.227270788G>C	ExAC,gnomAD
rs371405814	p.Gly532Asp	missense variant	-	NC_000002.12:g.227270789G>A	ESP,ExAC,TOPMed,gnomAD
rs371405814	p.Gly532Asp	missense variant	Alport syndrome 2, autosomal recessive (ATS2)	NC_000002.12:g.227270789G>A	UniProt,dbSNP
VAR_030945	p.Gly532Asp	missense variant	Alport syndrome 2, autosomal recessive (ATS2)	NC_000002.12:g.227270789G>A	UniProt
rs779575469	p.Gly532Ser	missense variant	-	NC_000002.12:g.227270788G>A	ExAC,gnomAD
NCI-TCGA novel	p.Pro534Arg	missense variant	-	NC_000002.12:g.227270795C>G	NCI-TCGA
COSM720432	p.Pro534Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227270795C>A	NCI-TCGA Cosmic
rs1310273340	p.Leu536Phe	missense variant	-	NC_000002.12:g.227270800C>T	gnomAD
rs778736621	p.Lys537Asn	missense variant	-	NC_000002.12:g.227270805A>T	ExAC
COSM1017327	p.Glu539Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.227270809G>T	NCI-TCGA Cosmic
rs1288801444	p.Gly541Ala	missense variant	-	NC_000002.12:g.227270816G>C	TOPMed,gnomAD
rs532699116	p.Glu542Lys	missense variant	-	NC_000002.12:g.227270818G>A	1000Genomes,TOPMed
NCI-TCGA novel	p.Leu544Ile	missense variant	-	NC_000002.12:g.227270824C>A	NCI-TCGA
rs1210299367	p.Leu544Pro	missense variant	-	NC_000002.12:g.227270825T>C	gnomAD
rs1488620484	p.Leu544Phe	missense variant	-	NC_000002.12:g.227270824C>T	gnomAD
rs772037798	p.Pro546Leu	missense variant	-	NC_000002.12:g.227270831C>T	ExAC,TOPMed,gnomAD
rs746917074	p.Val550Gly	missense variant	-	NC_000002.12:g.227270843T>G	ExAC,TOPMed,gnomAD
rs1160313671	p.Pro553Ser	missense variant	-	NC_000002.12:g.227270851C>T	gnomAD
rs375766511	p.Asp555Glu	missense variant	-	NC_000002.12:g.227270859C>G	ESP,ExAC,TOPMed,gnomAD
rs768989338	p.Pro556Leu	missense variant	-	NC_000002.12:g.227270861C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro556Gln	missense variant	-	NC_000002.12:g.227270861C>A	NCI-TCGA
rs1457269547	p.Gly557Arg	missense variant	-	NC_000002.12:g.227270863G>A	gnomAD
rs767941255	p.Arg559Gly	missense variant	-	NC_000002.12:g.227270869A>G	ExAC,gnomAD
rs1188215723	p.Gln561His	missense variant	-	NC_000002.12:g.227270877A>C	TOPMed
rs773619513	p.Pro562Arg	missense variant	-	NC_000002.12:g.227270879C>G	ExAC,gnomAD
RCV000674357	p.Gly563Arg	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227270881G>A	ClinVar
rs1553757060	p.Gly563Arg	missense variant	-	NC_000002.12:g.227270881G>A	-
NCI-TCGA novel	p.Asp568Glu	missense variant	-	NC_000002.12:g.227270898T>A	NCI-TCGA
NCI-TCGA novel	p.Asp568Asn	missense variant	-	NC_000002.12:g.227270896G>A	NCI-TCGA
rs1234251751	p.Gly572Val	missense variant	-	NC_000002.12:g.227270909G>T	gnomAD
RCV000247531	p.Pro574Leu	missense variant	-	NC_000002.12:g.227270915C>T	ClinVar
RCV000710811	p.Pro574Leu	missense variant	-	NC_000002.12:g.227270915C>T	ClinVar
RCV000576573	p.Pro574Leu	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227270915C>T	ClinVar
RCV000296144	p.Pro574Leu	missense variant	Alport syndrome	NC_000002.12:g.227270915C>T	ClinVar
rs28381984	p.Pro574Leu	missense variant	-	NC_000002.12:g.227270915C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs28381984	p.Pro574Gln	missense variant	-	NC_000002.12:g.227270915C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs752539537	p.Val576Met	missense variant	-	NC_000002.12:g.227270920G>A	ExAC,gnomAD
rs1210472222	p.Gly578Glu	missense variant	-	NC_000002.12:g.227270927G>A	TOPMed
rs1486154582	p.Pro580Arg	missense variant	-	NC_000002.12:g.227270933C>G	TOPMed
rs758213592	p.Pro582Ser	missense variant	-	NC_000002.12:g.227270938C>T	ExAC,TOPMed,gnomAD
rs777507103	p.Pro582Arg	missense variant	-	NC_000002.12:g.227270939C>G	ExAC,gnomAD
rs920504687	p.Lys583Ter	stop gained	-	NC_000002.12:g.227270941A>T	TOPMed
rs757164307	p.Glu585Lys	missense variant	-	NC_000002.12:g.227270947G>A	ExAC,TOPMed,gnomAD
rs764680234	p.Ala587Ser	missense variant	-	NC_000002.12:g.227272949G>T	ExAC,gnomAD
rs764680234	p.Ala587Thr	missense variant	-	NC_000002.12:g.227272949G>A	ExAC,gnomAD
rs1370893147	p.Gly590Ser	missense variant	-	NC_000002.12:g.227272958G>A	gnomAD
rs757982551	p.Glu591Gly	missense variant	-	NC_000002.12:g.227272962A>G	ExAC,gnomAD
rs377125283	p.Lys592Gln	missense variant	-	NC_000002.12:g.227272964A>C	ESP,ExAC,TOPMed,gnomAD
rs751361421	p.Gly593Ala	missense variant	-	NC_000002.12:g.227272968G>C	ExAC,gnomAD
rs757211772	p.Asp594Asn	missense variant	-	NC_000002.12:g.227272970G>A	ExAC,gnomAD
NCI-TCGA novel	p.Asp594Glu	missense variant	-	NC_000002.12:g.227272972C>A	NCI-TCGA
rs1370386326	p.Pro597Ala	missense variant	-	NC_000002.12:g.227272979C>G	TOPMed,gnomAD
rs781163705	p.Pro597Leu	missense variant	-	NC_000002.12:g.227272980C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro597His	missense variant	-	NC_000002.12:g.227272980C>A	NCI-TCGA
rs1370386326	p.Pro597Thr	missense variant	-	NC_000002.12:g.227272979C>A	TOPMed,gnomAD
COSM3578470	p.Pro598Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227272982C>T	NCI-TCGA Cosmic
COSM3798696	p.Gly599Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227272986G>C	NCI-TCGA Cosmic
rs1277449259	p.Asp600Val	missense variant	-	NC_000002.12:g.227272989A>T	TOPMed
rs781224368	p.Asp600Asn	missense variant	-	NC_000002.12:g.227272988G>A	ExAC,TOPMed,gnomAD
rs1258967071	p.Pro601Ser	missense variant	-	NC_000002.12:g.227272991C>T	gnomAD
rs369567469	p.Pro601Leu	missense variant	-	NC_000002.12:g.227272992C>T	ESP,ExAC,TOPMed,gnomAD
rs1336598219	p.Ser603Phe	missense variant	-	NC_000002.12:g.227272998C>T	TOPMed
rs779066867	p.Ser606Tyr	missense variant	-	NC_000002.12:g.227273007C>A	ExAC,gnomAD
COSM3578472	p.Gly608Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227273013G>A	NCI-TCGA Cosmic
rs1468699642	p.Pro609Ser	missense variant	-	NC_000002.12:g.227273015C>T	TOPMed
rs1488754515	p.Pro609Arg	missense variant	-	NC_000002.12:g.227273016C>G	gnomAD
rs1204528209	p.Ala610Ser	missense variant	-	NC_000002.12:g.227273018G>T	gnomAD
rs1408313223	p.Pro612Leu	missense variant	-	NC_000002.12:g.227273025C>T	TOPMed
rs1193846733	p.Pro616Leu	missense variant	-	NC_000002.12:g.227273037C>T	gnomAD
rs773515249	p.Gly619Arg	missense variant	-	NC_000002.12:g.227273045G>A	ExAC,gnomAD
RCV000625624	p.Gly619Arg	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227273045G>A	ClinVar
RCV000681773	p.Gly619Arg	missense variant	-	NC_000002.12:g.227273045G>A	ClinVar
rs771390525	p.Gln621His	missense variant	-	NC_000002.12:g.227273053A>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly622Val	missense variant	-	NC_000002.12:g.227273055G>T	NCI-TCGA
NCI-TCGA novel	p.Gly622Arg	missense variant	-	NC_000002.12:g.227273054G>A	NCI-TCGA
COSM229984	p.Gly622Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227273055G>A	NCI-TCGA Cosmic
rs1238595904	p.Pro624Ala	missense variant	-	NC_000002.12:g.227273060C>G	TOPMed
COSM6157230	p.Gln627His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227273071G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly628Ser	missense variant	-	NC_000002.12:g.227273072G>A	NCI-TCGA
RCV000727017	p.Thr629Met	missense variant	-	NC_000002.12:g.227273076C>T	ClinVar
rs139361545	p.Thr629Met	missense variant	-	NC_000002.12:g.227273076C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000755746	p.Gly631Val	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227273082G>T	ClinVar
rs1315862965	p.Gly631Val	missense variant	-	NC_000002.12:g.227273082G>T	TOPMed
VAR_080826	p.Gly631Val	Missense	Alport syndrome 2, autosomal recessive (ATS2) [MIM:203780]	-	UniProt
rs762656208	p.Val632Ala	missense variant	-	NC_000002.12:g.227273085T>C	ExAC,TOPMed,gnomAD
rs1365798663	p.Pro633Thr	missense variant	-	NC_000002.12:g.227273087C>A	gnomAD
RCV000449541	p.Gly634Arg	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227273090G>A	ClinVar
rs1060499696	p.Gly634Arg	missense variant	-	NC_000002.12:g.227273090G>A	-
rs1225143206	p.Ala635Val	missense variant	-	NC_000002.12:g.227273094C>T	TOPMed
rs763801141	p.Pro636Ser	missense variant	-	NC_000002.12:g.227273096C>T	ExAC,gnomAD
rs761686437	p.Gly637Arg	missense variant	-	NC_000002.12:g.227273099G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gly637AspPheSerTerUnkUnkUnk	frameshift	-	NC_000002.12:g.227273094C>-	NCI-TCGA
RCV000256394	p.Gly637Arg	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227273099G>A	ClinVar
rs767174856	p.Pro638Ser	missense variant	-	NC_000002.12:g.227273102C>T	ExAC,TOPMed,gnomAD
rs950849463	p.Pro638Leu	missense variant	-	NC_000002.12:g.227273103C>T	TOPMed,gnomAD
rs750387239	p.Pro639Thr	missense variant	-	NC_000002.12:g.227273105C>A	ExAC,gnomAD
RCV000489873	p.Gly640Arg	missense variant	-	NC_000002.12:g.227273108G>A	ClinVar
rs200672668	p.Gly640Arg	missense variant	-	NC_000002.12:g.227273108G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200672668	p.Gly640Arg	missense variant	Alport syndrome 2, autosomal recessive (ATS2)	NC_000002.12:g.227273108G>A	UniProt,dbSNP
VAR_011210	p.Gly640Arg	missense variant	Alport syndrome 2, autosomal recessive (ATS2)	NC_000002.12:g.227273108G>A	UniProt
RCV000410611	p.Gly640Arg	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227273108G>A	ClinVar
rs1482051609	p.Glu641Lys	missense variant	-	NC_000002.12:g.227273111G>A	gnomAD
rs752819997	p.Glu641Asp	missense variant	-	NC_000002.12:g.227273113A>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu641Val	missense variant	-	NC_000002.12:g.227273112A>T	NCI-TCGA
rs778034451	p.Gly643Ser	missense variant	-	NC_000002.12:g.227273117G>A	ExAC,TOPMed,gnomAD
RCV000348330	p.Gly643Ser	missense variant	Alport syndrome	NC_000002.12:g.227273117G>A	ClinVar
rs1220487318	p.Pro644Leu	missense variant	-	NC_000002.12:g.227276388C>T	gnomAD
RCV000710812	p.Arg645Ter	frameshift	-	NC_000002.12:g.227276390del	ClinVar
NCI-TCGA novel	p.Gly646Ter	stop gained	-	NC_000002.12:g.227276393G>T	NCI-TCGA
rs1273999671	p.Leu648Ile	missense variant	-	NC_000002.12:g.227276399C>A	TOPMed
NCI-TCGA novel	p.Ser649Arg	missense variant	-	NC_000002.12:g.227276404T>G	NCI-TCGA
rs1202024408	p.Ser649Gly	missense variant	-	NC_000002.12:g.227276402A>G	gnomAD
rs1293134993	p.Val650Ala	missense variant	-	NC_000002.12:g.227276406T>C	TOPMed
rs1042357811	p.Ser651Ter	stop gained	-	NC_000002.12:g.227276409C>G	TOPMed
rs1459418110	p.Val654Leu	missense variant	-	NC_000002.12:g.227276417G>C	gnomAD
rs1459418110	p.Val654Ile	missense variant	-	NC_000002.12:g.227276417G>A	gnomAD
rs370768231	p.Pro655Ser	missense variant	-	NC_000002.12:g.227276420C>T	ESP,ExAC,TOPMed,gnomAD
rs749751219	p.Pro658Ala	missense variant	-	NC_000002.12:g.227276429C>G	ExAC,gnomAD
rs770397467	p.Pro658Leu	missense variant	-	NC_000002.12:g.227276430C>T	ExAC,gnomAD
rs773674552	p.Pro660Thr	missense variant	-	NC_000002.12:g.227276435C>A	ExAC,TOPMed,gnomAD
rs1326057654	p.Pro660Leu	missense variant	-	NC_000002.12:g.227276436C>T	TOPMed
RCV000735711	p.Pro660Thr	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227276435C>A	ClinVar
NCI-TCGA novel	p.Gly662Glu	missense variant	-	NC_000002.12:g.227276442G>A	NCI-TCGA
NCI-TCGA novel	p.Pro663Leu	missense variant	-	NC_000002.12:g.227276445C>T	NCI-TCGA
rs747891356	p.Pro663Thr	missense variant	-	NC_000002.12:g.227276444C>A	ExAC,gnomAD
rs1168872602	p.Pro664Ser	missense variant	-	NC_000002.12:g.227276447C>T	gnomAD
rs1465952147	p.Gly665Ala	missense variant	-	NC_000002.12:g.227276451G>C	gnomAD
NCI-TCGA novel	p.His666Tyr	missense variant	-	NC_000002.12:g.227276453C>T	NCI-TCGA
rs771617412	p.His666Leu	missense variant	-	NC_000002.12:g.227276454A>T	ExAC,gnomAD
COSM3578476	p.His666Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227276455T>A	NCI-TCGA Cosmic
RCV000735710	p.Gly668Arg	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227276459G>C	ClinVar
rs760523928	p.Pro669Ser	missense variant	-	NC_000002.12:g.227276462C>T	ExAC,gnomAD
rs766227789	p.Pro669Arg	missense variant	-	NC_000002.12:g.227276463C>G	ExAC,gnomAD
rs760523928	p.Pro669Ala	missense variant	-	NC_000002.12:g.227276462C>G	ExAC,gnomAD
rs766227789	p.Pro669Leu	missense variant	-	NC_000002.12:g.227276463C>T	ExAC,gnomAD
rs759326548	p.Gly671Ser	missense variant	-	NC_000002.12:g.227276468G>A	ExAC,gnomAD
rs1085307955	p.Gly671Asp	missense variant	-	NC_000002.12:g.227276469G>A	TOPMed
RCV000489100	p.Gly671Asp	missense variant	-	NC_000002.12:g.227276469G>A	ClinVar
rs1198131772	p.Pro673Ala	missense variant	-	NC_000002.12:g.227276474C>G	TOPMed
NCI-TCGA novel	p.Gly674Asp	missense variant	-	NC_000002.12:g.227277449G>A	NCI-TCGA
rs1232338023	p.Ile675Leu	missense variant	-	NC_000002.12:g.227277451A>C	gnomAD
rs1354756195	p.Ser678Cys	missense variant	-	NC_000002.12:g.227277461C>G	gnomAD
NCI-TCGA novel	p.Leu679Gln	missense variant	-	NC_000002.12:g.227277464T>A	NCI-TCGA
RCV000671890	p.Gly680Ter	frameshift	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227277451_227277458ATCCCTGG[3]	ClinVar
rs913719303	p.Cys682Arg	missense variant	-	NC_000002.12:g.227277472T>C	gnomAD
rs1214574322	p.Cys682Tyr	missense variant	-	NC_000002.12:g.227277473G>A	gnomAD
rs1227180382	p.Asp684Ala	missense variant	-	NC_000002.12:g.227277479A>C	gnomAD
rs759579342	p.Pro685Leu	missense variant	-	NC_000002.12:g.227277482C>T	ExAC,TOPMed,gnomAD
rs765085029	p.Leu687Ile	missense variant	-	NC_000002.12:g.227277487C>A	ExAC,gnomAD
RCV000664680	p.Gly689Arg	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227277493G>A	ClinVar
rs1553758919	p.Gly689Arg	missense variant	-	NC_000002.12:g.227277493G>A	-
rs1158524505	p.Asp691Asn	missense variant	-	NC_000002.12:g.227277499G>A	TOPMed
rs761780956	p.Gly692Ser	missense variant	-	NC_000002.12:g.227277502G>A	ExAC
rs920326958	p.Pro694Ser	missense variant	-	NC_000002.12:g.227277508C>T	TOPMed
rs200287952	p.Gly695Arg	missense variant	-	NC_000002.12:g.227277511G>A	ESP,ExAC,TOPMed,gnomAD
RCV000408794	p.Gly695Arg	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227277511G>A	ClinVar
rs544999908	p.Gly695Glu	missense variant	-	NC_000002.12:g.227277512G>A	1000Genomes
COSM3578478	p.Pro697Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227277517C>T	NCI-TCGA Cosmic
rs756268290	p.Gly698Arg	missense variant	-	NC_000002.12:g.227277520G>A	ExAC,TOPMed,gnomAD
rs754146345	p.Ile699Thr	missense variant	-	NC_000002.12:g.227277524T>C	ExAC,TOPMed,gnomAD
rs1331805495	p.Gly700Glu	missense variant	-	NC_000002.12:g.227277527G>A	TOPMed,gnomAD
rs1331805495	p.Gly700Val	missense variant	-	NC_000002.12:g.227277527G>T	TOPMed,gnomAD
rs895264273	p.Gly703Arg	missense variant	-	NC_000002.12:g.227277535G>C	TOPMed,gnomAD
rs376083145	p.Pro704Ser	missense variant	-	NC_000002.12:g.227277538C>T	ESP,ExAC,TOPMed,gnomAD
rs1256071852	p.Pro704Leu	missense variant	-	NC_000002.12:g.227277539C>T	TOPMed
NCI-TCGA novel	p.Gly706Glu	missense variant	-	NC_000002.12:g.227277545G>A	NCI-TCGA
rs368429205	p.Pro707Ser	missense variant	-	NC_000002.12:g.227277547C>T	ESP,ExAC,gnomAD
RCV000516433	p.Gly709Glu	missense variant	-	NC_000002.12:g.227279793G>A	ClinVar
rs1553759430	p.Gly709Glu	missense variant	-	NC_000002.12:g.227279793G>A	-
rs1462592333	p.Gln711Leu	missense variant	-	NC_000002.12:g.227279799A>T	TOPMed
rs527383673	p.Gln711His	missense variant	-	NC_000002.12:g.227279800A>C	ExAC,TOPMed,gnomAD
rs1196105825	p.Gly715Ser	missense variant	-	NC_000002.12:g.227279810G>A	gnomAD
rs759585383	p.Thr716Ile	missense variant	-	NC_000002.12:g.227279814C>T	ExAC,gnomAD
rs759585383	p.Thr716Arg	missense variant	-	NC_000002.12:g.227279814C>G	ExAC,gnomAD
rs1446634445	p.Lys717Arg	missense variant	-	NC_000002.12:g.227279817A>G	gnomAD
NCI-TCGA novel	p.Gly718Ter	stop gained	-	NC_000002.12:g.227279819G>T	NCI-TCGA
rs751113129	p.Ser719Pro	missense variant	-	NC_000002.12:g.227279822T>C	ExAC,TOPMed,gnomAD
rs1164505506	p.Ser719Leu	missense variant	-	NC_000002.12:g.227279823C>T	gnomAD
rs1464399784	p.Gly721Asp	missense variant	-	NC_000002.12:g.227279829G>A	gnomAD
NCI-TCGA novel	p.Pro723His	missense variant	-	NC_000002.12:g.227279835C>A	NCI-TCGA
rs201198284	p.Pro723Leu	missense variant	-	NC_000002.12:g.227279835C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs780690343	p.Pro723Ser	missense variant	-	NC_000002.12:g.227279834C>T	ExAC,TOPMed,gnomAD
rs1299273722	p.Gly724Glu	missense variant	-	NC_000002.12:g.227279838G>A	gnomAD
NCI-TCGA novel	p.Lys725Ile	missense variant	-	NC_000002.12:g.227279841A>T	NCI-TCGA
rs199734116	p.Lys725Arg	missense variant	-	NC_000002.12:g.227279841A>G	1000Genomes
rs1224292796	p.Met726Thr	missense variant	-	NC_000002.12:g.227279844T>C	TOPMed,gnomAD
RCV000710813	p.Met726Ter	frameshift	-	NC_000002.12:g.227279843dup	ClinVar
rs779837475	p.Glu728Asp	missense variant	-	NC_000002.12:g.227279851G>T	ExAC,TOPMed,gnomAD
rs749279118	p.Pro729Leu	missense variant	-	NC_000002.12:g.227279853C>T	ExAC,gnomAD
rs768574539	p.Gly733Ala	missense variant	-	NC_000002.12:g.227279865G>C	ExAC,gnomAD
rs773317939	p.Gly736Asp	missense variant	-	NC_000002.12:g.227279874G>A	ExAC,TOPMed,gnomAD
rs773317939	p.Gly736Val	missense variant	-	NC_000002.12:g.227279874G>T	ExAC,TOPMed,gnomAD
rs760719817	p.Leu737His	missense variant	-	NC_000002.12:g.227279877T>A	ExAC,TOPMed,gnomAD
rs985672803	p.Leu737Phe	missense variant	-	NC_000002.12:g.227279876C>T	TOPMed,gnomAD
rs1421064735	p.Pro738Leu	missense variant	-	NC_000002.12:g.227279880C>T	gnomAD
rs375040636	p.Gly739Arg	missense variant	-	NC_000002.12:g.227279882G>A	ESP,TOPMed,gnomAD
rs375040636	p.Gly739Arg	missense variant	Alport syndrome 2, autosomal recessive (ATS2)	NC_000002.12:g.227279882G>A	UniProt,dbSNP
VAR_030946	p.Gly739Arg	missense variant	Alport syndrome 2, autosomal recessive (ATS2)	NC_000002.12:g.227279882G>A	UniProt
RCV000411680	p.Gly739Arg	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227279882G>A	ClinVar
rs1457828414	p.Ala740Gly	missense variant	-	NC_000002.12:g.227279886C>G	gnomAD
rs1374057361	p.Ala740Thr	missense variant	-	NC_000002.12:g.227279885G>A	gnomAD
COSM3909740	p.Glu743Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227280443G>A	NCI-TCGA Cosmic
rs1355241282	p.Pro744Thr	missense variant	-	NC_000002.12:g.227280446C>A	gnomAD
rs1215979363	p.Pro744Leu	missense variant	-	NC_000002.12:g.227280447C>T	gnomAD
rs976794410	p.Val746Ala	missense variant	-	NC_000002.12:g.227280453T>C	TOPMed
rs1236567213	p.Met748Thr	missense variant	-	NC_000002.12:g.227280459T>C	gnomAD
rs748037608	p.Met748Ile	missense variant	-	NC_000002.12:g.227280460G>A	ExAC
rs918245943	p.Pro749His	missense variant	-	NC_000002.12:g.227280462C>A	-
rs770920210	p.Pro755Ser	missense variant	-	NC_000002.12:g.227280479C>T	ExAC,gnomAD
rs1308023279	p.Gly756Ala	missense variant	-	NC_000002.12:g.227280483G>C	TOPMed,gnomAD
rs564627125	p.Phe757Leu	missense variant	-	NC_000002.12:g.227280485T>C	1000Genomes,ExAC,gnomAD
rs1168114749	p.Gly759Ala	missense variant	-	NC_000002.12:g.227280492G>C	TOPMed
rs368940964	p.Glu760Val	missense variant	-	NC_000002.12:g.227280495A>T	ESP,ExAC,TOPMed,gnomAD
rs747356302	p.Arg761Lys	missense variant	-	NC_000002.12:g.227280498G>A	ExAC,TOPMed,gnomAD
rs983885088	p.Gly762Ser	missense variant	-	NC_000002.12:g.227280500G>A	TOPMed,gnomAD
RCV000735783	p.Gly762Arg	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227280500G>C	ClinVar
rs1378494393	p.Asn763Ser	missense variant	-	NC_000002.12:g.227280504A>G	gnomAD
rs776039489	p.Ser764Tyr	missense variant	-	NC_000002.12:g.227280507C>A	ExAC,TOPMed,gnomAD
rs764491513	p.Gly765Ala	missense variant	-	NC_000002.12:g.227280510G>C	ExAC,gnomAD
rs769177741	p.Glu766Lys	missense variant	-	NC_000002.12:g.227280512G>A	ExAC,TOPMed,gnomAD
rs1304361843	p.His767Arg	missense variant	-	NC_000002.12:g.227280516A>G	gnomAD
rs762337737	p.Ile770Thr	missense variant	-	NC_000002.12:g.227280525T>C	ExAC,TOPMed,gnomAD
rs762337737	p.Ile770Ser	missense variant	-	NC_000002.12:g.227280525T>G	ExAC,TOPMed,gnomAD
rs766989068	p.Leu772Phe	missense variant	-	NC_000002.12:g.227280530C>T	ExAC,gnomAD
COSM3991118	p.Gly780Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227280555G>T	NCI-TCGA Cosmic
rs1321738280	p.Thr781Pro	missense variant	-	NC_000002.12:g.227280557A>C	TOPMed
rs1277359310	p.Thr781Ser	missense variant	-	NC_000002.12:g.227280558C>G	gnomAD
rs1310041969	p.Gly783Arg	missense variant	-	NC_000002.12:g.227280563G>A	gnomAD
rs909666135	p.Asn784Asp	missense variant	-	NC_000002.12:g.227280566A>G	gnomAD
rs909666135	p.Asn784His	missense variant	-	NC_000002.12:g.227280566A>C	gnomAD
rs755792441	p.Glu785Lys	missense variant	-	NC_000002.12:g.227280569G>A	ExAC,gnomAD
rs937124617	p.Leu787Phe	missense variant	-	NC_000002.12:g.227280575C>T	TOPMed
rs766043724	p.Leu787Pro	missense variant	-	NC_000002.12:g.227280576T>C	ExAC,TOPMed,gnomAD
rs781635651	p.Arg791Gln	missense variant	-	NC_000002.12:g.227280588G>A	TOPMed,gnomAD
rs1060499654	p.Arg791Ter	stop gained	-	NC_000002.12:g.227280587C>T	gnomAD
RCV000763472	p.Arg791Ter	nonsense	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227280587C>T	ClinVar
RCV000710814	p.Pro794Leu	missense variant	-	NC_000002.12:g.227280899C>T	ClinVar
rs1283533086	p.Pro797Arg	missense variant	-	NC_000002.12:g.227280908C>G	gnomAD
rs1256619919	p.Glu802Lys	missense variant	-	NC_000002.12:g.227280922G>A	TOPMed,gnomAD
rs1205896711	p.Pro805Thr	missense variant	-	NC_000002.12:g.227280931C>A	TOPMed,gnomAD
rs1293246002	p.Pro805His	missense variant	-	NC_000002.12:g.227280932C>A	TOPMed
rs775865576	p.Pro806Gln	missense variant	-	NC_000002.12:g.227280935C>A	ExAC,gnomAD
rs775865576	p.Pro806Leu	missense variant	-	NC_000002.12:g.227280935C>T	ExAC,gnomAD
RCV000667462	p.Gly807Ter	frameshift	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227280935dup	ClinVar
rs759352023	p.Arg808Ser	missense variant	-	NC_000002.12:g.227280942G>T	ExAC,gnomAD
rs1201806587	p.Cys809Gly	missense variant	-	NC_000002.12:g.227280943T>G	gnomAD
rs1430269347	p.Ile810Thr	missense variant	-	NC_000002.12:g.227280947T>C	gnomAD
rs774838919	p.Gly812Ser	missense variant	-	NC_000002.12:g.227280952G>A	ExAC,TOPMed,gnomAD
rs1421475586	p.Arg814Gly	missense variant	-	NC_000002.12:g.227280958A>G	gnomAD
rs374735941	p.Gln817Arg	missense variant	-	NC_000002.12:g.227280968A>G	ESP,ExAC,gnomAD
RCV000517367	p.Gly818Arg	missense variant	-	NC_000002.12:g.227280970G>A	ClinVar
RCV000668107	p.Gly818Arg	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227280970G>A	ClinVar
rs868002181	p.Gly818Arg	missense variant	-	NC_000002.12:g.227280970G>A	gnomAD
rs868002181	p.Gly818Ter	stop gained	-	NC_000002.12:g.227280970G>T	gnomAD
rs1303333190	p.Pro820Leu	missense variant	-	NC_000002.12:g.227280977C>T	gnomAD
rs1339422678	p.Asn823Ser	missense variant	-	NC_000002.12:g.227280986A>G	gnomAD
rs192027050	p.Leu825Phe	missense variant	-	NC_000002.12:g.227280993G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs765810654	p.Gly827Arg	missense variant	-	NC_000002.12:g.227280997G>A	ExAC,gnomAD
rs1216014403	p.Gln828His	missense variant	-	NC_000002.12:g.227281002A>C	TOPMed
rs1215600092	p.Gln829Glu	missense variant	-	NC_000002.12:g.227281003C>G	gnomAD
rs1283119232	p.Gly830Ser	missense variant	-	NC_000002.12:g.227281006G>A	TOPMed
rs779489401	p.Gly833Asp	missense variant	-	NC_000002.12:g.227282374G>A	ExAC,gnomAD
RCV000710815	p.Lys834Arg	missense variant	-	NC_000002.12:g.227282377A>G	ClinVar
rs56226424	p.Lys834Arg	missense variant	-	NC_000002.12:g.227282377A>G	UniProt,dbSNP
VAR_061118	p.Lys834Arg	missense variant	-	NC_000002.12:g.227282377A>G	UniProt
rs56226424	p.Lys834Arg	missense variant	-	NC_000002.12:g.227282377A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs374379775	p.Thr835Met	missense variant	-	NC_000002.12:g.227282380C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly836Glu	missense variant	-	NC_000002.12:g.227282383G>A	NCI-TCGA
rs770451401	p.Lys838Asn	missense variant	-	NC_000002.12:g.227282390G>C	ExAC,TOPMed
rs267599233	p.Gly839Glu	missense variant	-	NC_000002.12:g.227282392G>A	TOPMed
rs1199126229	p.Asp840Asn	missense variant	-	NC_000002.12:g.227282394G>A	TOPMed
rs759226767	p.Pro841Ser	missense variant	-	NC_000002.12:g.227282397C>T	ExAC,TOPMed,gnomAD
COSM4398207	p.Gly842Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227282401G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ile843Asn	missense variant	-	NC_000002.12:g.227282404T>A	NCI-TCGA
rs1385197225	p.Pro844Leu	missense variant	-	NC_000002.12:g.227282407C>T	TOPMed,gnomAD
RCV000668688	p.Leu846Ter	frameshift	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227282411del	ClinVar
rs1381114441	p.Arg848Thr	missense variant	-	NC_000002.12:g.227282419G>C	gnomAD
rs1454995836	p.Gly850Val	missense variant	-	NC_000002.12:g.227282425G>T	gnomAD
rs762816967	p.Phe851Tyr	missense variant	-	NC_000002.12:g.227282428T>A	ExAC,gnomAD
rs763726708	p.Gly853Ter	stop gained	-	NC_000002.12:g.227282433G>T	ExAC,gnomAD
rs763726708	p.Gly853Arg	missense variant	-	NC_000002.12:g.227282433G>A	ExAC,gnomAD
rs1281398240	p.Glu854Lys	missense variant	-	NC_000002.12:g.227282436G>A	gnomAD
NCI-TCGA novel	p.Thr855LeuPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.227282437A>-	NCI-TCGA
COSM1017343	p.Gly856Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227282443G>A	NCI-TCGA Cosmic
rs757208504	p.Ser857Pro	missense variant	-	NC_000002.12:g.227282445T>C	ExAC,gnomAD
COSM70257	p.Pro858Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227282449C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ile860Met	missense variant	-	NC_000002.12:g.227282456T>G	NCI-TCGA
rs1305817169	p.Pro861Ala	missense variant	-	NC_000002.12:g.227282457C>G	TOPMed
rs1276231358	p.Pro861Leu	missense variant	-	NC_000002.12:g.227282458C>T	gnomAD
rs1204172430	p.His863Tyr	missense variant	-	NC_000002.12:g.227282463C>T	gnomAD
COSM1017345	p.Gln864Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227282467A>G	NCI-TCGA Cosmic
RCV000710816	p.Gly865Ser	missense variant	-	NC_000002.12:g.227282469G>A	ClinVar
NCI-TCGA novel	p.Glu866Lys	missense variant	-	NC_000002.12:g.227282472G>A	NCI-TCGA
rs1237514825	p.Met867Ile	missense variant	-	NC_000002.12:g.227282477G>A	gnomAD
rs1444212051	p.Pro869Thr	missense variant	-	NC_000002.12:g.227282481C>A	TOPMed
rs1402894646	p.Gly871Ala	missense variant	-	NC_000002.12:g.227282488G>C	TOPMed
rs1400717937	p.Pro876Thr	missense variant	-	NC_000002.12:g.227282502C>A	TOPMed
COSM3578480	p.Gly877Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227282506G>A	NCI-TCGA Cosmic
rs368342782	p.Pro879Leu	missense variant	-	NC_000002.12:g.227282512C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM3578482	p.Gly880Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227282515G>A	NCI-TCGA Cosmic
RCV000681728	p.Gly883Arg	missense variant	-	NC_000002.12:g.227282523G>A	ClinVar
rs1363365346	p.Pro884Ser	missense variant	-	NC_000002.12:g.227282526C>T	TOPMed
rs1404282904	p.Pro885Ser	missense variant	-	NC_000002.12:g.227282529C>T	gnomAD
rs1460910053	p.Glu887Lys	missense variant	-	NC_000002.12:g.227283769G>A	gnomAD
COSM1306496	p.Glu887Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227283770A>T	NCI-TCGA Cosmic
rs755114611	p.Asp888Glu	missense variant	-	NC_000002.12:g.227283774T>G	ExAC,TOPMed,gnomAD
rs376762135	p.Asp888Asn	missense variant	-	NC_000002.12:g.227283772G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs765193194	p.Ile891Thr	missense variant	-	NC_000002.12:g.227283782T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly892Glu	missense variant	-	NC_000002.12:g.227283785G>A	NCI-TCGA
rs758527772	p.Met893Thr	missense variant	-	NC_000002.12:g.227283788T>C	ExAC,gnomAD
COSM720424	p.Met893Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227283789G>A	NCI-TCGA Cosmic
rs778240614	p.Met894Thr	missense variant	-	NC_000002.12:g.227283791T>C	ExAC,gnomAD
rs1553760558	p.Gly895Asp	missense variant	-	NC_000002.12:g.227283794G>A	-
RCV000625572	p.Gly895Asp	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227283794G>A	ClinVar
rs747329097	p.Phe896Ile	missense variant	-	NC_000002.12:g.227283796T>A	ExAC,gnomAD
RCV000595829	p.Ile900Thr	missense variant	-	NC_000002.12:g.227283809T>C	ClinVar
rs201665434	p.Ile900Thr	missense variant	-	NC_000002.12:g.227283809T>C	ESP,ExAC,TOPMed,gnomAD
rs1400069211	p.Pro902Leu	missense variant	-	NC_000002.12:g.227283815C>T	TOPMed
rs1219595266	p.Pro902Thr	missense variant	-	NC_000002.12:g.227283814C>A	TOPMed,gnomAD
rs1219595266	p.Pro902Ser	missense variant	-	NC_000002.12:g.227283814C>T	TOPMed,gnomAD
rs1174417447	p.Gly904Glu	missense variant	-	NC_000002.12:g.227283821G>A	TOPMed
rs1281787819	p.Pro905Ser	missense variant	-	NC_000002.12:g.227283823C>T	gnomAD
rs1490410896	p.Pro905Leu	missense variant	-	NC_000002.12:g.227283824C>T	gnomAD
rs1157123820	p.Pro906Thr	missense variant	-	NC_000002.12:g.227283826C>A	TOPMed
rs1427118369	p.Gly907Glu	missense variant	-	NC_000002.12:g.227283830G>A	TOPMed,gnomAD
rs749014254	p.Gly910Cys	missense variant	-	NC_000002.12:g.227283838G>T	ExAC,gnomAD
COSM3719000	p.Gly910Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227283839G>A	NCI-TCGA Cosmic
rs774264149	p.Pro912Ala	missense variant	-	NC_000002.12:g.227283844C>G	ExAC,gnomAD
rs774264149	p.Pro912Ser	missense variant	-	NC_000002.12:g.227283844C>T	ExAC,gnomAD
NCI-TCGA novel	p.Gly913Trp	missense variant	-	NC_000002.12:g.227283847G>T	NCI-TCGA
rs761717909	p.Gln914Lys	missense variant	-	NC_000002.12:g.227283850C>A	ExAC,TOPMed,gnomAD
COSM6157226	p.Gln914His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227283852G>C	NCI-TCGA Cosmic
rs1425473176	p.Arg915Thr	missense variant	-	NC_000002.12:g.227283854G>C	gnomAD
RCV000483341	p.Ser917Asn	missense variant	-	NC_000002.12:g.227284214G>A	ClinVar
rs773119622	p.Ser917Asn	missense variant	-	NC_000002.12:g.227284214G>A	ExAC,gnomAD
rs770768915	p.Pro918Leu	missense variant	-	NC_000002.12:g.227284217C>T	ExAC,gnomAD
rs760736325	p.Pro918Ser	missense variant	-	NC_000002.12:g.227284216C>T	ExAC,gnomAD
rs1445819062	p.Gly919Val	missense variant	-	NC_000002.12:g.227284220G>T	gnomAD
rs775697039	p.Pro921Ala	missense variant	-	NC_000002.12:g.227284225C>G	ExAC,gnomAD
rs920413118	p.Gly922Glu	missense variant	-	NC_000002.12:g.227284229G>A	TOPMed
rs1405970656	p.Gly922Arg	missense variant	-	NC_000002.12:g.227284228G>C	gnomAD
rs920413118	p.Gly922Val	missense variant	-	NC_000002.12:g.227284229G>T	TOPMed
RCV000674326	p.Gly922Val	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227284229G>T	ClinVar
RCV000666969	p.Val923Ter	frameshift	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227284232_227284242del	ClinVar
rs917860017	p.Val923Ile	missense variant	-	NC_000002.12:g.227284231G>A	TOPMed
RCV000729022	p.Val923Ter	frameshift	-	NC_000002.12:g.227284232_227284242del	ClinVar
rs1160128164	p.Lys924Thr	missense variant	-	NC_000002.12:g.227284235A>C	gnomAD
rs1376792630	p.Gln926His	missense variant	-	NC_000002.12:g.227284242G>C	gnomAD
NCI-TCGA novel	p.Thr929Ala	missense variant	-	NC_000002.12:g.227284249A>G	NCI-TCGA
rs1468070875	p.Gly931Glu	missense variant	-	NC_000002.12:g.227284256G>A	gnomAD
rs1338508417	p.Ala932Ser	missense variant	-	NC_000002.12:g.227284258G>T	TOPMed,gnomAD
NCI-TCGA novel	p.Lys933ArgPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.227284261A>-	NCI-TCGA
rs199956740	p.Gly934Arg	missense variant	-	NC_000002.12:g.227284264G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs751695390	p.Glu935AsnPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.227284263G>-	NCI-TCGA
rs751807485	p.Glu935Val	missense variant	-	NC_000002.12:g.227284268A>T	ExAC,gnomAD
rs540666025	p.Gln936Ter	stop gained	-	NC_000002.12:g.227284270C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs540666025	p.Gln936Lys	missense variant	-	NC_000002.12:g.227284270C>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000681806	p.Gly937Glu	missense variant	-	NC_000002.12:g.227284274G>A	ClinVar
NCI-TCGA novel	p.Gly937Ter	stop gained	-	NC_000002.12:g.227284273G>T	NCI-TCGA
rs202161876	p.Asp938Gly	missense variant	-	NC_000002.12:g.227284277A>G	1000Genomes,ExAC,TOPMed,gnomAD
COSM3578486	p.Gly940Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227284283G>A	NCI-TCGA Cosmic
rs1323214141	p.Asn941Lys	missense variant	-	NC_000002.12:g.227284287T>A	TOPMed,gnomAD
rs947902380	p.Pro942Arg	missense variant	-	NC_000002.12:g.227284289C>G	TOPMed
RCV000669556	p.Gly943Arg	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227284291G>A	ClinVar
rs1265432530	p.Gly943Arg	missense variant	-	NC_000002.12:g.227284291G>A	gnomAD
rs780443142	p.Pro944Ser	missense variant	-	NC_000002.12:g.227284294C>T	ExAC,gnomAD
COSM1017347	p.Pro944His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227284295C>A	NCI-TCGA Cosmic
rs754307075	p.Ser945Ala	missense variant	-	NC_000002.12:g.227284297T>G	ExAC,gnomAD
rs1481663157	p.Glu946Lys	missense variant	-	NC_000002.12:g.227284300G>A	gnomAD
rs754481221	p.His949Pro	missense variant	-	NC_000002.12:g.227284310A>C	ExAC,gnomAD
rs200044988	p.Val950Ile	missense variant	-	NC_000002.12:g.227284312G>A	ESP,ExAC,TOPMed,gnomAD
rs1429805281	p.Ile951Lys	missense variant	-	NC_000002.12:g.227284316T>A	TOPMed,gnomAD
rs1409239403	p.Ile951Met	missense variant	-	NC_000002.12:g.227284317A>G	gnomAD
rs1429805281	p.Ile951Thr	missense variant	-	NC_000002.12:g.227284316T>C	TOPMed,gnomAD
rs1168237406	p.Gly952Glu	missense variant	-	NC_000002.12:g.227284319G>A	gnomAD
rs1350367419	p.Asp953His	missense variant	-	NC_000002.12:g.227284321G>C	TOPMed
rs771818723	p.Gly955Arg	missense variant	-	NC_000002.12:g.227284327G>A	ExAC,gnomAD
rs777778320	p.Glu956Asp	missense variant	-	NC_000002.12:g.227284332A>T	ExAC,gnomAD
rs1343220469	p.Pro957Arg	missense variant	-	NC_000002.12:g.227284334C>G	TOPMed,gnomAD
rs1343220469	p.Pro957Gln	missense variant	-	NC_000002.12:g.227284334C>A	TOPMed,gnomAD
rs1292486017	p.Pro957Thr	missense variant	-	NC_000002.12:g.227284333C>A	gnomAD
rs1343220469	p.Pro957Leu	missense variant	-	NC_000002.12:g.227284334C>T	TOPMed,gnomAD
rs1375959023	p.Gly958Val	missense variant	-	NC_000002.12:g.227284337G>T	TOPMed
rs746766677	p.Lys960Glu	missense variant	-	NC_000002.12:g.227284342A>G	ExAC,gnomAD
rs1357390455	p.Gly961Ala	missense variant	-	NC_000002.12:g.227289150G>C	gnomAD
rs1357390455	p.Gly961Glu	missense variant	-	NC_000002.12:g.227289150G>A	gnomAD
rs1285576172	p.Gly961Arg	missense variant	-	NC_000002.12:g.227284345G>A	gnomAD
rs200801946	p.Ala963Pro	missense variant	-	NC_000002.12:g.227289155G>C	ESP,ExAC,TOPMed,gnomAD
rs200801946	p.Ala963Thr	missense variant	-	NC_000002.12:g.227289155G>A	ESP,ExAC,TOPMed,gnomAD
rs1446680986	p.Gly964Arg	missense variant	-	NC_000002.12:g.227289158G>A	gnomAD
COSM3578490	p.Gly964Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227289159G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro966Ser	missense variant	-	NC_000002.12:g.227289164C>T	NCI-TCGA
COSM3909742	p.Gly970Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227289177G>A	NCI-TCGA Cosmic
rs529090890	p.Gly973Ser	missense variant	-	NC_000002.12:g.227289185G>A	1000Genomes
rs777581994	p.Val974Ile	missense variant	-	NC_000002.12:g.227289188G>A	ExAC,TOPMed,gnomAD
rs746604076	p.Pro975Ala	missense variant	-	NC_000002.12:g.227289191C>G	ExAC,gnomAD
NCI-TCGA novel	p.Gly976Glu	missense variant	-	NC_000002.12:g.227289195G>A	NCI-TCGA
rs1205708798	p.Pro978Gln	missense variant	-	NC_000002.12:g.227289201C>A	TOPMed
rs371185804	p.Gly982Asp	missense variant	-	NC_000002.12:g.227289213G>A	ESP
rs1445946933	p.Gly982Ser	missense variant	-	NC_000002.12:g.227289212G>A	gnomAD
NCI-TCGA novel	p.Leu983His	missense variant	-	NC_000002.12:g.227289216T>A	NCI-TCGA
RCV000485138	p.Gly985Val	missense variant	-	NC_000002.12:g.227289222G>T	ClinVar
NCI-TCGA novel	p.Gly985Arg	missense variant	-	NC_000002.12:g.227289221G>A	NCI-TCGA
rs121912827	p.Gly985Glu	missense variant	-	NC_000002.12:g.227289222G>A	ExAC,TOPMed,gnomAD
rs121912827	p.Gly985Val	missense variant	-	NC_000002.12:g.227289222G>T	ExAC,TOPMed,gnomAD
rs121912827	p.Gly985Val	missense variant	Hematuria, benign familial (BFH)	NC_000002.12:g.227289222G>T	UniProt,dbSNP
VAR_030948	p.Gly985Val	missense variant	Hematuria, benign familial (BFH)	NC_000002.12:g.227289222G>T	UniProt
rs769683665	p.Gly988Arg	missense variant	-	NC_000002.12:g.227289230G>A	ExAC,TOPMed,gnomAD
rs748243984	p.Pro989Gln	missense variant	-	NC_000002.12:g.227289234C>A	ExAC,TOPMed,gnomAD
rs774477588	p.Pro989Ala	missense variant	-	NC_000002.12:g.227289233C>G	ExAC,gnomAD
rs774477588	p.Pro989Ser	missense variant	-	NC_000002.12:g.227289233C>T	ExAC,gnomAD
rs748243984	p.Pro989Leu	missense variant	-	NC_000002.12:g.227289234C>T	ExAC,TOPMed,gnomAD
rs1270902917	p.Ala990Val	missense variant	-	NC_000002.12:g.227289237C>T	TOPMed,gnomAD
rs772076791	p.Pro992Gln	missense variant	-	NC_000002.12:g.227289243C>A	ExAC,TOPMed,gnomAD
rs772076791	p.Pro992Leu	missense variant	-	NC_000002.12:g.227289243C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg996Lys	missense variant	-	NC_000002.12:g.227290005G>A	NCI-TCGA
rs1222637411	p.Arg996Thr	missense variant	-	NC_000002.12:g.227290005G>C	gnomAD
RCV000667045	p.Gly997Glu	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227290008G>A	ClinVar
rs1553762113	p.Gly997Glu	missense variant	-	NC_000002.12:g.227290008G>A	-
NCI-TCGA novel	p.Gly1000Asp	missense variant	-	NC_000002.12:g.227290017G>A	NCI-TCGA
rs756098644	p.Thr1002Ile	missense variant	-	NC_000002.12:g.227290023C>T	ExAC
rs1214122319	p.Gly1003Arg	missense variant	-	NC_000002.12:g.227290025G>A	TOPMed
rs981689853	p.Pro1008Gln	missense variant	-	NC_000002.12:g.227290041C>A	TOPMed
rs1204230457	p.Gly1009Ala	missense variant	-	NC_000002.12:g.227290044G>C	TOPMed,gnomAD
rs73996408	p.Arg1011Cys	missense variant	-	NC_000002.12:g.227290049C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs772164474	p.Arg1011His	missense variant	-	NC_000002.12:g.227290050G>A	ExAC,TOPMed,gnomAD
rs73996408	p.Arg1011Ser	missense variant	-	NC_000002.12:g.227290049C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000252602	p.Arg1011Cys	missense variant	-	NC_000002.12:g.227290049C>T	ClinVar
rs773321281	p.Pro1014Ala	missense variant	-	NC_000002.12:g.227290058C>G	ExAC,gnomAD
rs773321281	p.Pro1014Ser	missense variant	-	NC_000002.12:g.227290058C>T	ExAC,gnomAD
rs121912826	p.Gly1015Glu	missense variant	Hematuria, benign familial (BFH)	NC_000002.12:g.227290062G>A	UniProt,dbSNP
VAR_030949	p.Gly1015Glu	missense variant	Hematuria, benign familial (BFH)	NC_000002.12:g.227290062G>A	UniProt
rs121912826	p.Gly1015Glu	missense variant	-	NC_000002.12:g.227290062G>A	-
RCV000019041	p.Gly1015Glu	missense variant	Benign familial hematuria (BFH)	NC_000002.12:g.227290062G>A	ClinVar
rs1479935022	p.Ser1016Asn	missense variant	-	NC_000002.12:g.227290065G>A	gnomAD
rs367691204	p.Met1017Thr	missense variant	-	NC_000002.12:g.227290068T>C	ESP,TOPMed,gnomAD
rs202071907	p.Met1020Thr	missense variant	-	NC_000002.12:g.227290077T>C	ExAC,TOPMed,gnomAD
rs202071907	p.Met1020Lys	missense variant	-	NC_000002.12:g.227290077T>A	ExAC,TOPMed,gnomAD
COSM4092088	p.Met1020Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227290076A>G	NCI-TCGA Cosmic
rs771180263	p.Met1022Val	missense variant	-	NC_000002.12:g.227290082A>G	ExAC,TOPMed,gnomAD
RCV000485204	p.Pro1023Ter	frameshift	-	NC_000002.12:g.227290086_227290087del	ClinVar
rs1478328374	p.Gly1024Arg	missense variant	-	NC_000002.12:g.227290088G>C	TOPMed
rs1219734287	p.Gly1024Val	missense variant	-	NC_000002.12:g.227290747G>T	gnomAD
NCI-TCGA novel	p.Ser1025Tyr	missense variant	-	NC_000002.12:g.227290750C>A	NCI-TCGA
COSM5903386	p.Gly1027Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227290756G>A	NCI-TCGA Cosmic
COSM4893088	p.Lys1028Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227290759A>G	NCI-TCGA Cosmic
COSM4092090	p.Arg1029Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227290762G>A	NCI-TCGA Cosmic
COSM3578492	p.Gly1030Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227290765G>A	NCI-TCGA Cosmic
rs1293530920	p.Thr1031Ser	missense variant	-	NC_000002.12:g.227290767A>T	gnomAD
NCI-TCGA novel	p.Gly1033GluPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.227290773_227290774insA	NCI-TCGA
rs376750724	p.Phe1034Ile	missense variant	-	NC_000002.12:g.227290776T>A	ESP,ExAC,TOPMed,gnomAD
rs773788933	p.Pro1035Ser	missense variant	-	NC_000002.12:g.227290779C>T	ExAC,gnomAD
rs761396322	p.Pro1035Leu	missense variant	-	NC_000002.12:g.227290780C>T	ExAC,gnomAD
rs766900945	p.Arg1037Ter	stop gained	-	NC_000002.12:g.227290785C>T	ExAC,TOPMed,gnomAD
rs760302213	p.Arg1037Gln	missense variant	-	NC_000002.12:g.227290786G>A	ExAC,gnomAD
RCV000669678	p.Arg1037Ter	nonsense	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227290785C>T	ClinVar
RCV000735743	p.Arg1037Ter	nonsense	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227290785C>T	ClinVar
rs766203944	p.Ala1038Thr	missense variant	-	NC_000002.12:g.227290788G>A	ExAC,gnomAD
rs187864249	p.Arg1040Thr	missense variant	-	NC_000002.12:g.227290795G>C	1000Genomes,ExAC,gnomAD
rs187864249	p.Arg1040Lys	missense variant	-	NC_000002.12:g.227290795G>A	1000Genomes,ExAC,gnomAD
rs1383417789	p.Gly1042Ser	missense variant	-	NC_000002.12:g.227290800G>A	gnomAD
rs1458658746	p.Pro1044Arg	missense variant	-	NC_000002.12:g.227290807C>G	gnomAD
rs1478306242	p.Ile1046Val	missense variant	-	NC_000002.12:g.227290812A>G	TOPMed
rs1382516119	p.Ile1046Thr	missense variant	-	NC_000002.12:g.227290813T>C	gnomAD
RCV000681689	p.Gly1048Arg	missense variant	-	NC_000002.12:g.227290818G>C	ClinVar
rs1553762279	p.Gln1050Ter	stop gained	-	NC_000002.12:g.227290824C>T	-
RCV000667832	p.Gln1050Ter	nonsense	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227290824C>T	ClinVar
rs757387115	p.Gly1051Ala	missense variant	-	NC_000002.12:g.227290828G>C	ExAC,gnomAD
COSM3578494	p.Gly1051Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227290828G>A	NCI-TCGA Cosmic
rs1316595667	p.Gly1054Arg	missense variant	-	NC_000002.12:g.227290836G>A	gnomAD
NCI-TCGA novel	p.Ser1059Thr	missense variant	-	NC_000002.12:g.227290851T>A	NCI-TCGA
rs906000783	p.Gly1061Cys	missense variant	-	NC_000002.12:g.227290857G>T	TOPMed,gnomAD
rs202078295	p.Gly1061Ala	missense variant	-	NC_000002.12:g.227290858G>C	ESP,ExAC,TOPMed,gnomAD
rs906000783	p.Gly1061Ser	missense variant	-	NC_000002.12:g.227290857G>A	TOPMed,gnomAD
rs202078295	p.Gly1061Asp	missense variant	-	NC_000002.12:g.227290858G>A	ESP,ExAC,TOPMed,gnomAD
rs749655271	p.Thr1062Ala	missense variant	-	NC_000002.12:g.227290860A>G	ExAC,gnomAD
rs768841565	p.Arg1063Lys	missense variant	-	NC_000002.12:g.227290864G>A	ExAC,TOPMed,gnomAD
COSM1733946	p.Gly1065Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227290870G>A	NCI-TCGA Cosmic
RCV000392593	p.Pro1066Ser	missense variant	Alport syndrome	NC_000002.12:g.227290872C>T	ClinVar
rs377003650	p.Pro1066Ser	missense variant	-	NC_000002.12:g.227290872C>T	ESP,ExAC,TOPMed,gnomAD
rs1181815898	p.Pro1066Leu	missense variant	-	NC_000002.12:g.227290873C>T	gnomAD
rs55849096	p.Pro1067Leu	missense variant	-	NC_000002.12:g.227290876C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000625595	p.Pro1067Arg	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227290876C>G	ClinVar
rs55849096	p.Pro1067Arg	missense variant	-	NC_000002.12:g.227290876C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs762181333	p.Pro1067Ser	missense variant	-	NC_000002.12:g.227290875C>T	ExAC,TOPMed,gnomAD
rs373628122	p.Thr1070Met	missense variant	-	NC_000002.12:g.227290885C>T	ESP,ExAC,TOPMed,gnomAD
rs766003244	p.Thr1070Ala	missense variant	-	NC_000002.12:g.227290884A>G	ExAC,TOPMed,gnomAD
rs373628122	p.Thr1070Lys	missense variant	-	NC_000002.12:g.227290885C>A	ESP,ExAC,TOPMed,gnomAD
rs765128550	p.Gly1071Glu	missense variant	-	NC_000002.12:g.227293192G>A	ExAC
rs775116314	p.Leu1075Arg	missense variant	-	NC_000002.12:g.227293204T>G	ExAC,TOPMed,gnomAD
rs200984988	p.Pro1076Leu	missense variant	-	NC_000002.12:g.227293207C>T	ESP,ExAC,TOPMed,gnomAD
RCV000735738	p.Gly1077Asp	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227293210G>A	ClinVar
rs756264539	p.Gly1077Arg	missense variant	-	NC_000002.12:g.227293209G>C	ExAC,gnomAD
rs766520935	p.Asp1078Ala	missense variant	-	NC_000002.12:g.227293213A>C	ExAC,gnomAD
rs762799043	p.Met1079Lys	missense variant	-	NC_000002.12:g.227293216T>A	ExAC,TOPMed,gnomAD
rs1183162500	p.Met1079Ile	missense variant	-	NC_000002.12:g.227293217G>C	TOPMed,gnomAD
rs1183162500	p.Met1079Ile	missense variant	-	NC_000002.12:g.227293217G>A	TOPMed,gnomAD
rs1267839034	p.Gly1080Arg	missense variant	-	NC_000002.12:g.227293218G>A	gnomAD
rs755128292	p.Gly1080Glu	missense variant	-	NC_000002.12:g.227293219G>A	ExAC,gnomAD
rs755128292	p.Gly1080Ala	missense variant	-	NC_000002.12:g.227293219G>C	ExAC,gnomAD
COSM720422	p.Gly1083Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227293228G>A	NCI-TCGA Cosmic
rs766420056	p.Glu1084Asp	missense variant	-	NC_000002.12:g.227293232A>T	ExAC,TOPMed,gnomAD
rs1192750535	p.Glu1084Ter	stop gained	-	NC_000002.12:g.227293230G>T	TOPMed,gnomAD
COSM3578500	p.Glu1084Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227293230G>A	NCI-TCGA Cosmic
RCV000517710	p.Glu1084Ter	nonsense	-	NC_000002.12:g.227293230G>T	ClinVar
rs769395979	p.Met1085Thr	missense variant	-	NC_000002.12:g.227293234T>C	TOPMed,gnomAD
rs374427586	p.Met1085Ile	missense variant	-	NC_000002.12:g.227293235G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs769395979	p.Met1085Arg	missense variant	-	NC_000002.12:g.227293234T>G	TOPMed,gnomAD
rs747475655	p.Pro1088Arg	missense variant	-	NC_000002.12:g.227293243C>G	ExAC
rs776095159	p.Gly1089Ser	missense variant	-	NC_000002.12:g.227293245G>A	ExAC,gnomAD
COSM3578502	p.Gly1089Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227293246G>A	NCI-TCGA Cosmic
RCV000681714	p.Gly1092Val	missense variant	-	NC_000002.12:g.227293255G>T	ClinVar
rs1403456385	p.His1093Arg	missense variant	-	NC_000002.12:g.227293258A>G	gnomAD
rs775409074	p.Leu1094Ser	missense variant	-	NC_000002.12:g.227293261T>C	ExAC,gnomAD
rs1293438194	p.Pro1096Ser	missense variant	-	NC_000002.12:g.227293266C>T	gnomAD
rs762665490	p.Ala1097Gly	missense variant	-	NC_000002.12:g.227293270C>G	ExAC,TOPMed,gnomAD
rs1291280333	p.Pro1099Leu	missense variant	-	NC_000002.12:g.227293276C>T	gnomAD
rs915171770	p.Glu1100Lys	missense variant	-	NC_000002.12:g.227293278G>A	TOPMed,gnomAD
rs560592940	p.Gly1101Glu	missense variant	-	NC_000002.12:g.227293282G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1475004950	p.Ala1102Asp	missense variant	-	NC_000002.12:g.227293285C>A	gnomAD
rs368275495	p.Ala1102Thr	missense variant	-	NC_000002.12:g.227293284G>A	ESP,ExAC,TOPMed,gnomAD
rs766608954	p.Gly1104Arg	missense variant	-	NC_000002.12:g.227293290G>C	ExAC,TOPMed,gnomAD
rs753862998	p.Ser1105Asn	missense variant	-	NC_000002.12:g.227293294G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly1107Glu	missense variant	-	NC_000002.12:g.227293300G>A	NCI-TCGA
rs55816283	p.Pro1109Ser	missense variant	-	NC_000002.12:g.227293305C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro1109Leu	missense variant	-	NC_000002.12:g.227293306C>T	NCI-TCGA
RCV000243309	p.Pro1109Ser	missense variant	-	NC_000002.12:g.227293305C>T	ClinVar
rs373982111	p.Pro1109Arg	missense variant	-	NC_000002.12:g.227293306C>G	1000Genomes,ESP,ExAC,gnomAD
rs752898968	p.Gly1110Arg	missense variant	-	NC_000002.12:g.227293308G>C	ExAC,gnomAD
rs758795519	p.Leu1111Ile	missense variant	-	NC_000002.12:g.227293311C>A	ExAC,TOPMed,gnomAD
rs367929808	p.Pro1112Leu	missense variant	-	NC_000002.12:g.227293315C>T	ESP
rs570327652	p.Gly1113Ala	missense variant	-	NC_000002.12:g.227294490G>C	1000Genomes,ExAC,gnomAD
rs1468756313	p.Gly1116Ser	missense variant	-	NC_000002.12:g.227294498G>A	gnomAD
NCI-TCGA novel	p.Pro1117Leu	missense variant	-	NC_000002.12:g.227294502C>T	NCI-TCGA
rs763137687	p.His1118Arg	missense variant	-	NC_000002.12:g.227294505A>G	ExAC,gnomAD
rs1435651752	p.His1118Gln	missense variant	-	NC_000002.12:g.227294506T>A	gnomAD
rs764480728	p.Gly1119Asp	missense variant	-	NC_000002.12:g.227294508G>A	ExAC,gnomAD
rs1473142299	p.Gly1125Ala	missense variant	-	NC_000002.12:g.227294526G>C	gnomAD
rs756086396	p.Ile1126Thr	missense variant	-	NC_000002.12:g.227294529T>C	TOPMed,gnomAD
COSM3578504	p.Gly1128Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227294534G>A	NCI-TCGA Cosmic
rs751915745	p.Leu1129Pro	missense variant	-	NC_000002.12:g.227294538T>C	ExAC,TOPMed,gnomAD
rs751915745	p.Leu1129His	missense variant	-	NC_000002.12:g.227294538T>A	ExAC,TOPMed,gnomAD
rs781560058	p.Pro1132Ser	missense variant	-	NC_000002.12:g.227294546C>T	ExAC,gnomAD
rs893516153	p.Pro1132His	missense variant	-	NC_000002.12:g.227294547C>A	TOPMed
RCV000207687	p.Gly1137Asp	missense variant	Benign familial hematuria (BFH)	NC_000002.12:g.227294562G>A	ClinVar
rs869025327	p.Gly1137Asp	missense variant	-	NC_000002.12:g.227294562G>A	-
rs1057516186	p.Pro1139Leu	missense variant	-	NC_000002.12:g.227294568C>T	-
RCV000408836	p.Pro1139Leu	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227294568C>T	ClinVar
rs1242167042	p.Leu1141Phe	missense variant	-	NC_000002.12:g.227294966C>T	gnomAD
rs1263987743	p.Pro1142Ser	missense variant	-	NC_000002.12:g.227294969C>T	gnomAD
rs1489682011	p.Gly1143Arg	missense variant	-	NC_000002.12:g.227294972G>A	TOPMed,gnomAD
rs1268707728	p.Phe1144Tyr	missense variant	-	NC_000002.12:g.227294976T>A	gnomAD
rs1210914620	p.Pro1145Ser	missense variant	-	NC_000002.12:g.227294978C>T	gnomAD
COSM4845312	p.Gly1146Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227294982G>C	NCI-TCGA Cosmic
RCV000778596	p.Ser1147Phe	missense variant	COL4A3-Related Disorders	NC_000002.12:g.227294985C>T	ClinVar
rs200107989	p.Ser1147Phe	missense variant	-	NC_000002.12:g.227294985C>T	ESP,ExAC,TOPMed,gnomAD
rs777604057	p.Ser1147Ala	missense variant	-	NC_000002.12:g.227294984T>G	ExAC,gnomAD
rs1190790049	p.Pro1148Ala	missense variant	-	NC_000002.12:g.227294987C>G	TOPMed
rs1444179511	p.Pro1150Leu	missense variant	-	NC_000002.12:g.227294994C>T	gnomAD
rs775604302	p.Met1151Thr	missense variant	-	NC_000002.12:g.227294997T>C	ExAC
rs749383170	p.Gly1152Arg	missense variant	-	NC_000002.12:g.227294999G>C	ExAC,gnomAD
rs749383170	p.Gly1152Ser	missense variant	-	NC_000002.12:g.227294999G>A	ExAC,gnomAD
RCV000672753	p.Gly1152Arg	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227294999G>C	ClinVar
rs768652257	p.Ile1153Val	missense variant	-	NC_000002.12:g.227295002A>G	ExAC,gnomAD
rs774583962	p.Gly1155Ser	missense variant	-	NC_000002.12:g.227295008G>A	ExAC,gnomAD
NCI-TCGA novel	p.Asp1156Asn	missense variant	-	NC_000002.12:g.227295011G>A	NCI-TCGA
rs761971869	p.Gln1157His	missense variant	-	NC_000002.12:g.227295016A>C	ExAC,gnomAD
rs914878176	p.Gly1158Arg	missense variant	-	NC_000002.12:g.227295017G>C	TOPMed
RCV000672819	p.Gly1158Arg	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227295017G>C	ClinVar
rs145948549	p.Arg1159His	missense variant	-	NC_000002.12:g.227295021G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs142376694	p.Arg1159Ser	missense variant	-	NC_000002.12:g.227295020C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs142376694	p.Arg1159Cys	missense variant	-	NC_000002.12:g.227295020C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp1160Asn	missense variant	-	NC_000002.12:g.227295023G>A	NCI-TCGA
rs1381421185	p.Pro1165Ser	missense variant	-	NC_000002.12:g.227295038C>T	gnomAD
rs574443391	p.Ala1166Pro	missense variant	-	NC_000002.12:g.227295041G>C	1000Genomes,ExAC,gnomAD
COSM1017349	p.Ala1166Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227295042C>T	NCI-TCGA Cosmic
RCV000681815	p.Gly1167Arg	missense variant	-	NC_000002.12:g.227295044G>A	ClinVar
rs267606745	p.Gly1167Arg	missense variant	-	NC_000002.12:g.227295044G>A	TOPMed,gnomAD
rs1245954589	p.Lys1169Arg	missense variant	-	NC_000002.12:g.227295051A>G	gnomAD
rs1211143950	p.Glu1171Asp	missense variant	-	NC_000002.12:g.227295058A>C	gnomAD
rs373950389	p.Thr1172Met	missense variant	-	NC_000002.12:g.227295060C>T	ESP,ExAC,TOPMed,gnomAD
rs763820297	p.Gly1173Val	missense variant	-	NC_000002.12:g.227295269G>T	ExAC,gnomAD
COSM1017353	p.Gly1173Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227295269G>A	NCI-TCGA Cosmic
rs886396005	p.Leu1174Val	missense variant	-	NC_000002.12:g.227295271T>G	TOPMed,gnomAD
NCI-TCGA novel	p.Arg1176Ser	missense variant	-	NC_000002.12:g.227295279G>T	NCI-TCGA
rs1431423014	p.Ala1177Ser	missense variant	-	NC_000002.12:g.227295280G>T	gnomAD
rs374145134	p.Asn1184Lys	missense variant	-	NC_000002.12:g.227295303C>A	ESP,ExAC,TOPMed,gnomAD
rs1427036025	p.Pro1185Leu	missense variant	-	NC_000002.12:g.227295305C>T	TOPMed
rs780912446	p.Pro1185Ser	missense variant	-	NC_000002.12:g.227295304C>T	ExAC,gnomAD
rs1305836268	p.Gly1186Arg	missense variant	-	NC_000002.12:g.227295307G>C	gnomAD
rs1295568138	p.Ala1190Thr	missense variant	-	NC_000002.12:g.227297676G>A	gnomAD
rs1295568138	p.Ala1190Ser	missense variant	-	NC_000002.12:g.227297676G>T	gnomAD
RCV000600771	p.Asp1193Asn	missense variant	-	NC_000002.12:g.227297685G>A	ClinVar
rs972796332	p.Asp1193Asn	missense variant	-	NC_000002.12:g.227297685G>A	TOPMed,gnomAD
rs761347389	p.Arg1194Ser	missense variant	-	NC_000002.12:g.227297690G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly1195Glu	missense variant	-	NC_000002.12:g.227297692G>A	NCI-TCGA
rs1288823583	p.Ala1196Val	missense variant	-	NC_000002.12:g.227297695C>T	TOPMed,gnomAD
COSM720420	p.Pro1197Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227297698C>A	NCI-TCGA Cosmic
rs755849032	p.Gly1198Asp	missense variant	-	NC_000002.12:g.227297701G>A	ExAC,gnomAD
rs779975412	p.Phe1199Ile	missense variant	-	NC_000002.12:g.227297703T>A	ExAC,TOPMed,gnomAD
rs779975412	p.Phe1199Leu	missense variant	-	NC_000002.12:g.227297703T>C	ExAC,TOPMed,gnomAD
rs758528330	p.Pro1203Gln	missense variant	-	NC_000002.12:g.227297716C>A	ExAC,gnomAD
rs200884685	p.Pro1203Ser	missense variant	-	NC_000002.12:g.227297715C>T	1000Genomes,ExAC,gnomAD
rs758528330	p.Pro1203Leu	missense variant	-	NC_000002.12:g.227297716C>T	ExAC,gnomAD
rs758528330	p.Pro1203Arg	missense variant	-	NC_000002.12:g.227297716C>G	ExAC,gnomAD
rs747299532	p.Arg1205Thr	missense variant	-	NC_000002.12:g.227297722G>C	ExAC
rs1403919583	p.Arg1205Gly	missense variant	-	NC_000002.12:g.227297721A>G	gnomAD
rs1167411352	p.Gly1207Arg	missense variant	-	NC_000002.12:g.227297727G>C	gnomAD
rs1553764136	p.Gly1207Glu	missense variant	-	NC_000002.12:g.227297728G>A	-
RCV000518270	p.Gly1207Glu	missense variant	-	NC_000002.12:g.227297728G>A	ClinVar
VAR_011212	p.Gly1207Glu	Missense	Alport syndrome 2, autosomal recessive (ATS2) [MIM:203780]	-	UniProt
rs200562865	p.Met1209Ile	missense variant	-	NC_000002.12:g.227297735G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000614650	p.Met1209Ile	missense variant	-	NC_000002.12:g.227297735G>A	ClinVar
rs376091129	p.Asp1211Gly	missense variant	-	NC_000002.12:g.227297740A>G	ESP,TOPMed,gnomAD
rs1480138301	p.Pro1214Leu	missense variant	-	NC_000002.12:g.227297749C>T	TOPMed
rs368434069	p.Arg1215Ter	stop gained	-	NC_000002.12:g.227297751C>T	ESP,ExAC,TOPMed,gnomAD
rs200443942	p.Arg1215Gln	missense variant	-	NC_000002.12:g.227297752G>A	ESP,ExAC,TOPMed,gnomAD
RCV000760445	p.Arg1215Ter	nonsense	-	NC_000002.12:g.227297751C>T	ClinVar
rs1283786496	p.Gly1216Ala	missense variant	-	NC_000002.12:g.227297755G>C	gnomAD
VAR_030950	p.Gly1216Arg	Missense	Alport syndrome 2, autosomal recessive (ATS2) [MIM:203780]	-	UniProt
rs1377308421	p.Gly1219Val	missense variant	-	NC_000002.12:g.227297764G>T	gnomAD
rs1229811135	p.Ile1220Thr	missense variant	-	NC_000002.12:g.227297767T>C	gnomAD
rs776091606	p.Ile1220Met	missense variant	-	NC_000002.12:g.227297768A>G	ExAC,gnomAD
rs1229811135	p.Ile1220Arg	missense variant	-	NC_000002.12:g.227297767T>G	gnomAD
rs975313876	p.Glu1221Val	missense variant	-	NC_000002.12:g.227297770A>T	TOPMed
rs957295374	p.Glu1221Lys	missense variant	-	NC_000002.12:g.227297769G>A	TOPMed
rs763319182	p.Phe1223Ile	missense variant	-	NC_000002.12:g.227297775T>A	ExAC,gnomAD
rs1464979875	p.Gly1225Glu	missense variant	-	NC_000002.12:g.227297782G>A	gnomAD
rs1269422297	p.Gly1225Arg	missense variant	-	NC_000002.12:g.227297781G>A	gnomAD
NCI-TCGA novel	p.Gly1225Trp	missense variant	-	NC_000002.12:g.227297781G>T	NCI-TCGA
rs1186273561	p.Pro1226Ser	missense variant	-	NC_000002.12:g.227297784C>T	gnomAD
rs762149708	p.Pro1226Leu	missense variant	-	NC_000002.12:g.227297785C>T	gnomAD
rs1473607802	p.Pro1227Ala	missense variant	-	NC_000002.12:g.227297787C>G	gnomAD
COSM3838765	p.Pro1227Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227297787C>T	NCI-TCGA Cosmic
RCV000761269	p.Gly1228Arg	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227297790G>C	ClinVar
rs1183958961	p.Gly1228Asp	missense variant	-	NC_000002.12:g.227297791G>A	gnomAD
rs1183958961	p.Gly1228Val	missense variant	-	NC_000002.12:g.227297791G>T	gnomAD
NCI-TCGA novel	p.Pro1230Thr	missense variant	-	NC_000002.12:g.227297796C>A	NCI-TCGA
rs761518401	p.Gly1231Ser	missense variant	-	NC_000002.12:g.227297799G>A	ExAC,TOPMed,gnomAD
COSM1017355	p.Gly1231Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227297800G>A	NCI-TCGA Cosmic
RCV000670065	p.Gly1231Ser	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227297799G>A	ClinVar
rs767171618	p.Ala1232Val	missense variant	-	NC_000002.12:g.227297803C>T	ExAC,gnomAD
rs766113758	p.Ile1234Met	missense variant	-	NC_000002.12:g.227297810C>G	ExAC,gnomAD
rs55825399	p.Ile1234Asn	missense variant	-	NC_000002.12:g.227297809T>A	1000Genomes,ExAC,gnomAD
rs55825399	p.Ile1234Thr	missense variant	-	NC_000002.12:g.227297809T>C	1000Genomes,ExAC,gnomAD
rs955042051	p.Pro1235Arg	missense variant	-	NC_000002.12:g.227297812C>G	TOPMed,gnomAD
rs528758931	p.Thr1238Lys	missense variant	-	NC_000002.12:g.227297821C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs528758931	p.Thr1238Arg	missense variant	-	NC_000002.12:g.227297821C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs369551948	p.Arg1241Cys	missense variant	-	NC_000002.12:g.227297829C>T	ESP,ExAC,gnomAD
rs201841428	p.Arg1241His	missense variant	-	NC_000002.12:g.227297830G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1275973987	p.Gly1245Asp	missense variant	-	NC_000002.12:g.227297842G>A	gnomAD
rs1400784100	p.Ser1246Ter	stop gained	-	NC_000002.12:g.227297845C>G	TOPMed
rs1443717801	p.Arg1247Ser	missense variant	-	NC_000002.12:g.227297849A>T	gnomAD
rs761179248	p.Ala1252Glu	missense variant	-	NC_000002.12:g.227298685C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala1252Thr	missense variant	-	NC_000002.12:g.227298684G>A	NCI-TCGA
NCI-TCGA novel	p.Ala1252Ser	missense variant	-	NC_000002.12:g.227298684G>T	NCI-TCGA
rs761179248	p.Ala1252Val	missense variant	-	NC_000002.12:g.227298685C>T	ExAC,TOPMed,gnomAD
rs1241462554	p.Pro1253Thr	missense variant	-	NC_000002.12:g.227298687C>A	gnomAD
rs1273438729	p.Gly1254Arg	missense variant	-	NC_000002.12:g.227298690G>C	gnomAD
rs759579368	p.Pro1255His	missense variant	-	NC_000002.12:g.227298694C>A	ExAC,TOPMed,gnomAD
rs759579368	p.Pro1255Leu	missense variant	-	NC_000002.12:g.227298694C>T	ExAC,TOPMed,gnomAD
rs752611633	p.Pro1258Thr	missense variant	-	NC_000002.12:g.227298702C>A	ExAC,gnomAD
rs757440842	p.Pro1258Leu	missense variant	-	NC_000002.12:g.227298703C>T	ExAC,gnomAD
rs1375956660	p.Ser1261Asn	missense variant	-	NC_000002.12:g.227298712G>A	TOPMed,gnomAD
rs768991487	p.His1262Gln	missense variant	-	NC_000002.12:g.227298716T>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val1263Ile	missense variant	-	NC_000002.12:g.227298717G>A	NCI-TCGA
rs1553764410	p.Ile1264Val	missense variant	-	NC_000002.12:g.227298720A>G	-
NCI-TCGA novel	p.Ile1264Leu	missense variant	-	NC_000002.12:g.227298720A>C	NCI-TCGA
RCV000505537	p.Ile1264Val	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227298720A>G	ClinVar
rs780533498	p.Ile1264Thr	missense variant	-	NC_000002.12:g.227298721T>C	ExAC,TOPMed,gnomAD
rs1309549929	p.Ile1266Leu	missense variant	-	NC_000002.12:g.227298726A>C	gnomAD
rs1396962991	p.Ile1266Thr	missense variant	-	NC_000002.12:g.227298727T>C	gnomAD
COSM418840	p.Gly1268Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227298733G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp1269His	missense variant	-	NC_000002.12:g.227298735G>C	NCI-TCGA
RCV000385929	p.Asp1269Glu	missense variant	Alport syndrome	NC_000002.12:g.227298737C>A	ClinVar
rs57611801	p.Asp1269Glu	missense variant	-	NC_000002.12:g.227298737C>A	UniProt,dbSNP
VAR_011214	p.Asp1269Glu	missense variant	-	NC_000002.12:g.227298737C>A	UniProt
rs57611801	p.Asp1269Glu	missense variant	-	NC_000002.12:g.227298737C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs749600773	p.Asp1269Val	missense variant	-	NC_000002.12:g.227298736A>T	ExAC,gnomAD
NCI-TCGA novel	p.Ser1272Tyr	missense variant	-	NC_000002.12:g.227298745C>A	NCI-TCGA
NCI-TCGA novel	p.Ser1272Phe	missense variant	-	NC_000002.12:g.227298745C>T	NCI-TCGA
RCV000735672	p.Ser1272Ter	frameshift	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227298743del	ClinVar
rs1001960472	p.Met1273Ile	missense variant	-	NC_000002.12:g.227298749G>T	TOPMed
RCV000681946	p.Gly1274Ser	missense variant	-	NC_000002.12:g.227298750G>A	ClinVar
rs143380907	p.His1275Gln	missense variant	-	NC_000002.12:g.227298755C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs746735368	p.Pro1276Leu	missense variant	-	NC_000002.12:g.227298757C>T	ExAC,gnomAD
RCV000727653	p.Gly1277Ser	missense variant	-	NC_000002.12:g.227298759G>A	ClinVar
rs190598500	p.Gly1277Ser	missense variant	-	NC_000002.12:g.227298759G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs776291901	p.Lys1279Thr	missense variant	-	NC_000002.12:g.227298766A>C	ExAC,gnomAD
rs1334185849	p.Pro1281Leu	missense variant	-	NC_000002.12:g.227298772C>T	gnomAD
rs1436860005	p.Gly1283Arg	missense variant	-	NC_000002.12:g.227298777G>A	TOPMed
NCI-TCGA novel	p.Thr1284PheSerThrSerSerSerCysTyrLeuVal	insertion	-	NC_000002.12:g.227298781_227298782insGTTTTCAACCTCCTCCTCATGTTACCTTGT	NCI-TCGA
rs1209658021	p.Thr1284Ala	missense variant	-	NC_000002.12:g.227298780A>G	gnomAD
rs759251186	p.Gly1286Arg	missense variant	-	NC_000002.12:g.227298786G>A	ExAC,TOPMed,gnomAD
rs1194331336	p.Met1288Ile	missense variant	-	NC_000002.12:g.227298794G>C	TOPMed,gnomAD
rs956480982	p.Pro1290Ser	missense variant	-	NC_000002.12:g.227298798C>T	TOPMed
rs1247495101	p.Gly1292Ser	missense variant	-	NC_000002.12:g.227298804G>A	gnomAD
rs201095498	p.Arg1293His	missense variant	-	NC_000002.12:g.227298808G>A	ESP,ExAC,TOPMed,gnomAD
COSM4092096	p.Arg1293Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227298807C>T	NCI-TCGA Cosmic
rs1044185049	p.Ala1296Thr	missense variant	-	NC_000002.12:g.227303041G>A	gnomAD
NCI-TCGA novel	p.Ala1296Ser	missense variant	-	NC_000002.12:g.227303041G>T	NCI-TCGA
rs780735618	p.Gly1301Cys	missense variant	-	NC_000002.12:g.227303056G>T	ExAC,gnomAD
rs1475469085	p.Gly1301Ala	missense variant	-	NC_000002.12:g.227303057G>C	gnomAD
rs1475469085	p.Gly1301Asp	missense variant	-	NC_000002.12:g.227303057G>A	gnomAD
rs905632374	p.Leu1302Phe	missense variant	-	NC_000002.12:g.227303059C>T	TOPMed
rs905632374	p.Leu1302Ile	missense variant	-	NC_000002.12:g.227303059C>A	TOPMed
rs1158379307	p.Pro1303Arg	missense variant	-	NC_000002.12:g.227303063C>G	gnomAD
rs1158379307	p.Pro1303Leu	missense variant	-	NC_000002.12:g.227303063C>T	gnomAD
rs745473187	p.Gly1307Asp	missense variant	-	NC_000002.12:g.227303075G>A	ExAC,gnomAD
rs1458335122	p.Asp1308Asn	missense variant	-	NC_000002.12:g.227303077G>A	gnomAD
rs769522094	p.Pro1309Ser	missense variant	-	NC_000002.12:g.227303080C>T	ExAC,gnomAD
rs775393699	p.Pro1309Leu	missense variant	-	NC_000002.12:g.227303081C>T	ExAC,TOPMed,gnomAD
rs1393930878	p.Gly1310Glu	missense variant	-	NC_000002.12:g.227303084G>A	gnomAD
rs557715458	p.Phe1311Val	missense variant	-	NC_000002.12:g.227303086T>G	1000Genomes,ExAC,gnomAD
rs774371026	p.Phe1314Leu	missense variant	-	NC_000002.12:g.227303095T>C	ExAC,gnomAD
rs760703010	p.Pro1315Ser	missense variant	-	NC_000002.12:g.227303098C>T	ExAC,TOPMed,gnomAD
rs1462802406	p.Gly1316Ser	missense variant	-	NC_000002.12:g.227303101G>A	gnomAD
rs200017859	p.Val1317Met	missense variant	-	NC_000002.12:g.227303104G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000415440	p.Gly1319Arg	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227303110G>A	ClinVar
rs765661521	p.Gly1319Arg	missense variant	-	NC_000002.12:g.227303110G>A	ExAC,gnomAD
rs765661521	p.Gly1319Arg	missense variant	-	NC_000002.12:g.227303110G>C	ExAC,gnomAD
rs1178734829	p.Gly1319Glu	missense variant	-	NC_000002.12:g.227303859G>A	TOPMed,gnomAD
rs375278276	p.Lys1321Glu	missense variant	-	NC_000002.12:g.227303864A>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly1322Val	missense variant	-	NC_000002.12:g.227303868G>T	NCI-TCGA
rs759739044	p.Gly1322Cys	missense variant	-	NC_000002.12:g.227303867G>T	ExAC,gnomAD
rs759739044	p.Gly1322Ser	missense variant	-	NC_000002.12:g.227303867G>A	ExAC,gnomAD
RCV000171335	p.Gly1322Ser	missense variant	-	NC_000002.12:g.227303867G>A	ClinVar
rs765460835	p.Asn1323Lys	missense variant	-	NC_000002.12:g.227303872T>A	ExAC,gnomAD
COSM6157224	p.Asn1323Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227303870A>T	NCI-TCGA Cosmic
rs1014469152	p.Pro1324Leu	missense variant	-	NC_000002.12:g.227303874C>T	TOPMed
rs368351146	p.Gly1325Arg	missense variant	-	NC_000002.12:g.227303876G>A	ESP,ExAC,TOPMed,gnomAD
rs201056180	p.Phe1326Ser	missense variant	-	NC_000002.12:g.227303880T>C	1000Genomes
COSM1017361	p.Leu1327Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227303882C>A	NCI-TCGA Cosmic
rs372237167	p.Gly1328Ala	missense variant	-	NC_000002.12:g.227303886G>C	ESP,ExAC,TOPMed,gnomAD
rs1168289818	p.Gly1328Arg	missense variant	-	NC_000002.12:g.227303885G>A	gnomAD
rs372237167	p.Gly1328Val	missense variant	-	NC_000002.12:g.227303886G>T	ESP,ExAC,TOPMed,gnomAD
rs1390815554	p.Ser1329Cys	missense variant	-	NC_000002.12:g.227303889C>G	TOPMed
rs767033956	p.Ile1330Thr	missense variant	Alport syndrome 2, autosomal recessive (ATS2)	NC_000002.12:g.227303892T>C	UniProt,dbSNP
VAR_011216	p.Ile1330Thr	missense variant	Alport syndrome 2, autosomal recessive (ATS2)	NC_000002.12:g.227303892T>C	UniProt
rs767033956	p.Ile1330Thr	missense variant	-	NC_000002.12:g.227303892T>C	ExAC,TOPMed,gnomAD
rs757747350	p.Pro1332Arg	missense variant	-	NC_000002.12:g.227303898C>G	ExAC,TOPMed,gnomAD
rs757747350	p.Pro1332Leu	missense variant	-	NC_000002.12:g.227303898C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly1334Arg	missense variant	-	NC_000002.12:g.227303903G>A	NCI-TCGA
rs375290088	p.Gly1334Glu	missense variant	-	NC_000002.12:g.227303904G>A	ESP,ExAC,TOPMed,gnomAD
rs749935887	p.Pro1335Gln	missense variant	-	NC_000002.12:g.227303907C>A	ExAC,gnomAD
rs749935887	p.Pro1335Leu	missense variant	-	NC_000002.12:g.227303907C>T	ExAC,gnomAD
rs1227955412	p.Ile1336Thr	missense variant	-	NC_000002.12:g.227303910T>C	TOPMed,gnomAD
rs779855573	p.Gly1337Glu	missense variant	-	NC_000002.12:g.227303913G>A	ExAC,gnomAD
rs1202995913	p.Pro1338Leu	missense variant	-	NC_000002.12:g.227303916C>T	TOPMed
RCV000505590	p.Gly1340Glu	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227303922G>A	ClinVar
rs748901402	p.Gly1340Glu	missense variant	-	NC_000002.12:g.227303922G>A	ExAC,gnomAD
rs1484007813	p.Pro1342Ala	missense variant	-	NC_000002.12:g.227303927C>G	TOPMed
rs1487504289	p.Pro1342Leu	missense variant	-	NC_000002.12:g.227303928C>T	gnomAD
rs369088928	p.Arg1345Cys	missense variant	-	NC_000002.12:g.227304024C>T	ESP,ExAC,TOPMed,gnomAD
rs553185617	p.Arg1345His	missense variant	-	NC_000002.12:g.227304025G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs73996414	p.Asp1347Glu	missense variant	-	NC_000002.12:g.227304032C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000576378	p.Asp1347Glu	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227304032C>A	ClinVar
RCV000600297	p.Asp1347Glu	missense variant	-	NC_000002.12:g.227304032C>A	ClinVar
rs1404615907	p.Lys1352Arg	missense variant	-	NC_000002.12:g.227304046A>G	TOPMed
rs779233761	p.Ile1353Val	missense variant	-	NC_000002.12:g.227304048A>G	ExAC,gnomAD
COSM1017363	p.Leu1356Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227304057C>G	NCI-TCGA Cosmic
rs1179787677	p.Pro1360Arg	missense variant	-	NC_000002.12:g.227304070C>G	TOPMed
rs1474483369	p.Gly1361Glu	missense variant	-	NC_000002.12:g.227304073G>A	gnomAD
rs1167775872	p.Pro1363Ala	missense variant	-	NC_000002.12:g.227304078C>G	gnomAD
rs1395903328	p.Pro1363His	missense variant	-	NC_000002.12:g.227304079C>A	TOPMed,gnomAD
rs992519969	p.Thr1365Ile	missense variant	-	NC_000002.12:g.227304085C>T	TOPMed,gnomAD
rs886055742	p.Gly1367Ala	missense variant	-	NC_000002.12:g.227304091G>C	TOPMed
rs778634875	p.Gly1367Arg	missense variant	-	NC_000002.12:g.227304090G>C	ExAC,gnomAD
RCV000379461	p.Gly1367Ala	missense variant	Alport syndrome	NC_000002.12:g.227304091G>C	ClinVar
rs747992363	p.Glu1368Ala	missense variant	-	NC_000002.12:g.227304094A>C	ExAC,gnomAD
rs1431769783	p.Gly1370Trp	missense variant	-	NC_000002.12:g.227304099G>T	gnomAD
rs1431769783	p.Gly1370Arg	missense variant	-	NC_000002.12:g.227304099G>A	gnomAD
rs1376744193	p.Met1371Arg	missense variant	-	NC_000002.12:g.227304103T>G	gnomAD
rs1280257668	p.Met1371Leu	missense variant	-	NC_000002.12:g.227304102A>T	TOPMed
rs1203857767	p.Gln1372Arg	missense variant	-	NC_000002.12:g.227304106A>G	TOPMed
rs932178501	p.Pro1375Arg	missense variant	-	NC_000002.12:g.227304115C>G	TOPMed,gnomAD
rs1266557600	p.Gly1376Arg	missense variant	-	NC_000002.12:g.227304117G>A	TOPMed
rs1480056281	p.Pro1378Thr	missense variant	-	NC_000002.12:g.227304123C>A	gnomAD
rs1328474979	p.Gly1379Arg	missense variant	-	NC_000002.12:g.227304126G>A	gnomAD
rs1285748210	p.Asn1383Ser	missense variant	-	NC_000002.12:g.227304139A>G	gnomAD
rs752254472	p.Gly1385Glu	missense variant	-	NC_000002.12:g.227304985G>A	ExAC,gnomAD
rs1482987456	p.Pro1386Thr	missense variant	-	NC_000002.12:g.227304987C>A	gnomAD
rs1482987456	p.Pro1386Ser	missense variant	-	NC_000002.12:g.227304987C>T	gnomAD
rs1281887494	p.Pro1389Thr	missense variant	-	NC_000002.12:g.227304996C>A	gnomAD
rs758237901	p.Gly1391Ala	missense variant	-	NC_000002.12:g.227305003G>C	ExAC,gnomAD
COSM3578510	p.Gly1391Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227305002G>A	NCI-TCGA Cosmic
COSM4396036	p.Gly1391Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227305003G>A	NCI-TCGA Cosmic
rs370516752	p.Pro1393Leu	missense variant	-	NC_000002.12:g.227305009C>T	ESP,ExAC,gnomAD
rs751535104	p.Lys1395Glu	missense variant	-	NC_000002.12:g.227305014A>G	ExAC,gnomAD
rs780162952	p.Gly1397Glu	missense variant	-	NC_000002.12:g.227305021G>A	ExAC,gnomAD
rs768549375	p.Pro1399Ser	missense variant	-	NC_000002.12:g.227305026C>T	ExAC,gnomAD
rs1369737800	p.Gly1400Glu	missense variant	-	NC_000002.12:g.227305030G>A	gnomAD
rs1233988362	p.Thr1401Pro	missense variant	-	NC_000002.12:g.227305032A>C	TOPMed,gnomAD
rs199548916	p.Pro1402Ser	missense variant	-	NC_000002.12:g.227305035C>T	1000Genomes,ExAC,gnomAD
rs199548916	p.Pro1402Thr	missense variant	-	NC_000002.12:g.227305035C>A	1000Genomes,ExAC,gnomAD
rs773708527	p.Gly1403Ala	missense variant	-	NC_000002.12:g.227305039G>C	ExAC,gnomAD
rs773708527	p.Gly1403Glu	missense variant	-	NC_000002.12:g.227305039G>A	ExAC,gnomAD
rs772528863	p.Gly1403Ter	stop gained	-	NC_000002.12:g.227305038G>T	ExAC,gnomAD
rs772528863	p.Gly1403Arg	missense variant	-	NC_000002.12:g.227305038G>A	ExAC,gnomAD
rs1435107745	p.Pro1404Leu	missense variant	-	NC_000002.12:g.227305042C>T	gnomAD
NCI-TCGA novel	p.Glu1407Gly	missense variant	-	NC_000002.12:g.227305051A>G	NCI-TCGA
rs771581605	p.Glu1407Asp	missense variant	-	NC_000002.12:g.227305052A>T	ExAC,gnomAD
rs771581605	p.Glu1407Asp	missense variant	-	NC_000002.12:g.227305052A>C	ExAC,gnomAD
COSM1405969	p.Glu1407Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.227305050G>T	NCI-TCGA Cosmic
COSM1614470	p.Gly1409AlaPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.227305051A>-	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly1412Asp	missense variant	-	NC_000002.12:g.227305066G>A	NCI-TCGA
rs373382431	p.Ser1413Phe	missense variant	-	NC_000002.12:g.227305069C>T	ESP
COSM3578512	p.Gly1415Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227305075G>A	NCI-TCGA Cosmic
rs777216105	p.Glu1416Gln	missense variant	-	NC_000002.12:g.227305077G>C	ExAC,TOPMed,gnomAD
rs1369973412	p.Pro1417Ser	missense variant	-	NC_000002.12:g.227305080C>T	TOPMed
rs1453558790	p.Pro1419Leu	missense variant	-	NC_000002.12:g.227307713C>T	TOPMed
rs375858137	p.Pro1426Gln	missense variant	-	NC_000002.12:g.227307734C>A	ESP,ExAC,TOPMed,gnomAD
rs774856700	p.Gly1430Ala	missense variant	-	NC_000002.12:g.227307746G>C	ExAC,gnomAD
NCI-TCGA novel	p.Gly1430Arg	missense variant	-	NC_000002.12:g.227307745G>A	NCI-TCGA
rs762720289	p.Arg1432Cys	missense variant	-	NC_000002.12:g.227307751C>T	ExAC,TOPMed,gnomAD
RCV000764365	p.Arg1432His	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227307752G>A	ClinVar
RCV000597767	p.Arg1432His	missense variant	-	NC_000002.12:g.227307752G>A	ClinVar
rs200509072	p.Arg1432His	missense variant	-	NC_000002.12:g.227307752G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs762720289	p.Arg1432Ser	missense variant	-	NC_000002.12:g.227307751C>A	ExAC,TOPMed,gnomAD
rs1213637962	p.Gly1436Val	missense variant	-	NC_000002.12:g.227307764G>T	gnomAD
rs1271304293	p.Ser1437Pro	missense variant	-	NC_000002.12:g.227307766T>C	gnomAD
rs773926698	p.Ser1437Ter	stop gained	-	NC_000002.12:g.227307767C>A	ExAC,gnomAD
rs767249276	p.Pro1438Thr	missense variant	-	NC_000002.12:g.227307769C>A	ExAC,gnomAD
NCI-TCGA novel	p.Pro1438His	missense variant	-	NC_000002.12:g.227307770C>A	NCI-TCGA
rs930028848	p.Pro1438Leu	missense variant	-	NC_000002.12:g.227307770C>T	TOPMed,gnomAD
rs756003401	p.Ala1439Val	missense variant	-	NC_000002.12:g.227307773C>T	ExAC,gnomAD
rs752734671	p.Thr1440Ile	missense variant	-	NC_000002.12:g.227307776C>T	ExAC,TOPMed,gnomAD
rs765416165	p.Thr1440Ala	missense variant	-	NC_000002.12:g.227307775A>G	ExAC,TOPMed,gnomAD
rs765416165	p.Thr1440Pro	missense variant	-	NC_000002.12:g.227307775A>C	ExAC,TOPMed,gnomAD
COSM3798700	p.Trp1441Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.227307780G>A	NCI-TCGA Cosmic
rs568766226	p.Thr1443Met	missense variant	-	NC_000002.12:g.227307785C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs747184144	p.Val1447Ala	missense variant	-	NC_000002.12:g.227307797T>C	ExAC,gnomAD
rs757748389	p.Phe1448Leu	missense variant	-	NC_000002.12:g.227307799T>C	ExAC,gnomAD
rs781659889	p.Thr1449Pro	missense variant	-	NC_000002.12:g.227307802A>C	ExAC,gnomAD
rs1189607438	p.Arg1450Ter	stop gained	-	NC_000002.12:g.227307805C>T	TOPMed
rs746450762	p.Arg1450Gln	missense variant	-	NC_000002.12:g.227307806G>A	ExAC,gnomAD
RCV000665013	p.Arg1450Ter	frameshift	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227307804_227307810del	ClinVar
RCV000727884	p.His1451Asp	missense variant	-	NC_000002.12:g.227307808C>G	ClinVar
rs1291948462	p.His1451Asp	missense variant	-	NC_000002.12:g.227307808C>G	TOPMed,gnomAD
NCI-TCGA novel	p.Thr1454Pro	missense variant	-	NC_000002.12:g.227307817A>C	NCI-TCGA
rs776005423	p.Thr1455Lys	missense variant	-	NC_000002.12:g.227307821C>A	ExAC,gnomAD
NCI-TCGA novel	p.Ala1456Ser	missense variant	-	NC_000002.12:g.227307823G>T	NCI-TCGA
rs768112443	p.Ala1456Glu	missense variant	-	NC_000002.12:g.227307824C>A	ExAC,gnomAD
rs1457115624	p.Ala1456Pro	missense variant	-	NC_000002.12:g.227307823G>C	TOPMed
COSM1017365	p.Ala1456Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227307823G>A	NCI-TCGA Cosmic
rs1207151551	p.Ile1457Thr	missense variant	-	NC_000002.12:g.227307827T>C	gnomAD
rs1003342095	p.Pro1458Ser	missense variant	-	NC_000002.12:g.227307829C>T	TOPMed
rs760462252	p.Pro1461Leu	missense variant	-	NC_000002.12:g.227307839C>T	ExAC,TOPMed,gnomAD
rs767367726	p.Pro1461Ser	missense variant	-	NC_000002.12:g.227307838C>T	ExAC,gnomAD
RCV000416721	p.Pro1461Leu	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227307839C>T	ClinVar
rs767367726	p.Pro1461Thr	missense variant	-	NC_000002.12:g.227307838C>A	ExAC,gnomAD
rs1299981128	p.Glu1462Gly	missense variant	-	NC_000002.12:g.227307842A>G	TOPMed
COSM3578514	p.Gly1463Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227307844G>A	NCI-TCGA Cosmic
rs753771653	p.Val1465Ala	missense variant	-	NC_000002.12:g.227307851T>C	ExAC,gnomAD
NCI-TCGA novel	p.Leu1467His	missense variant	-	NC_000002.12:g.227307857T>A	NCI-TCGA
NCI-TCGA novel	p.Leu1467Ile	missense variant	-	NC_000002.12:g.227307856C>A	NCI-TCGA
rs757545559	p.Phe1471Ser	missense variant	-	NC_000002.12:g.227307869T>C	ExAC,gnomAD
rs1401112697	p.Phe1471Leu	missense variant	-	NC_000002.12:g.227307870T>G	gnomAD
rs781726141	p.Ser1472Phe	missense variant	-	NC_000002.12:g.227307872C>T	ExAC,gnomAD
RCV000778597	p.Leu1474Pro	missense variant	COL4A3-Related Disorders	NC_000002.12:g.227307878T>C	ClinVar
rs750764641	p.Leu1474Phe	missense variant	-	NC_000002.12:g.227307877C>T	ExAC
rs200302125	p.Leu1474Pro	missense variant	-	NC_000002.12:g.227307878T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM4836146	p.Leu1474Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227307877C>G	NCI-TCGA Cosmic
rs780455423	p.Phe1475Ser	missense variant	-	NC_000002.12:g.227307881T>C	ExAC,TOPMed,gnomAD
rs1466592212	p.Gln1477Arg	missense variant	-	NC_000002.12:g.227307887A>G	TOPMed
RCV000019036	p.Arg1481Ter	nonsense	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227307898C>T	ClinVar
RCV000760446	p.Arg1481Ter	nonsense	-	NC_000002.12:g.227307898C>T	ClinVar
RCV000763473	p.Arg1481Ter	nonsense	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227307898C>T	ClinVar
rs121912824	p.Arg1481Ter	stop gained	-	NC_000002.12:g.227307898C>T	ExAC,TOPMed,gnomAD
rs768203978	p.Arg1481Gln	missense variant	-	NC_000002.12:g.227307899G>A	ExAC,TOPMed,gnomAD
rs199755408	p.Ala1482Val	missense variant	-	NC_000002.12:g.227307902C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs199755408	p.Ala1482Gly	missense variant	-	NC_000002.12:g.227307902C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000825738	p.Ala1482Val	missense variant	-	NC_000002.12:g.227307902C>T	ClinVar
rs976882559	p.Gly1484Arg	missense variant	-	NC_000002.12:g.227307907G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Leu1487Ile	missense variant	-	NC_000002.12:g.227307916C>A	NCI-TCGA
rs1307804666	p.Gly1488Ala	missense variant	-	NC_000002.12:g.227308899G>C	gnomAD
NCI-TCGA novel	p.Thr1489Asn	missense variant	-	NC_000002.12:g.227308902C>A	NCI-TCGA
NCI-TCGA novel	p.Thr1489Ser	missense variant	-	NC_000002.12:g.227308901A>T	NCI-TCGA
rs200818438	p.Thr1489Ile	missense variant	-	NC_000002.12:g.227308902C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly1491AlaPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.227308907G>-	NCI-TCGA
NCI-TCGA novel	p.Gly1491Arg	missense variant	-	NC_000002.12:g.227308907G>C	NCI-TCGA
rs374353882	p.Gly1491Asp	missense variant	-	NC_000002.12:g.227308908G>A	ESP,ExAC,TOPMed,gnomAD
rs1057519377	p.Ser1492Cys	missense variant	-	NC_000002.12:g.227308910A>T	-
RCV000416827	p.Ser1492Cys	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227308910A>T	ClinVar
rs77964815	p.Gln1495Arg	missense variant	-	NC_000002.12:g.227308920A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000253369	p.Gln1495Arg	missense variant	-	NC_000002.12:g.227308920A>G	ClinVar
rs776086781	p.Arg1496Gln	missense variant	-	NC_000002.12:g.227308923G>A	ExAC,TOPMed,gnomAD
rs769863513	p.Arg1496Ter	stop gained	-	NC_000002.12:g.227308922C>T	ExAC,gnomAD
RCV000670558	p.Arg1496Ter	nonsense	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227308922C>T	ClinVar
COSM477010	p.Met1500Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227308936G>A	NCI-TCGA Cosmic
rs1452130451	p.Met1500Val	missense variant	-	NC_000002.12:g.227308934A>G	gnomAD
RCV000666813	p.Pro1501Gln	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227308938C>A	ClinVar
rs1553766363	p.Pro1501Gln	missense variant	-	NC_000002.12:g.227308938C>A	-
rs1195144676	p.Pro1501Thr	missense variant	-	NC_000002.12:g.227308937C>A	gnomAD
RCV000723192	p.Pro1501Ser	missense variant	-	NC_000002.12:g.227308937C>T	ClinVar
RCV000667153	p.Phe1502Leu	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227308940T>C	ClinVar
rs1553766367	p.Phe1502Leu	missense variant	-	NC_000002.12:g.227308940T>C	-
rs201671013	p.Phe1504Leu	missense variant	-	NC_000002.12:g.227308946T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000597276	p.Phe1504Leu	missense variant	-	NC_000002.12:g.227308946T>C	ClinVar
RCV000825318	p.Phe1504Leu	missense variant	-	NC_000002.12:g.227308946T>C	ClinVar
RCV000764366	p.Phe1504Leu	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227308946T>C	ClinVar
rs74333012	p.Cys1505Ser	missense variant	-	NC_000002.12:g.227308950G>C	gnomAD
rs74333012	p.Cys1505Phe	missense variant	-	NC_000002.12:g.227308950G>T	gnomAD
rs766712248	p.Asn1506Asp	missense variant	-	NC_000002.12:g.227308952A>G	ExAC,gnomAD
NCI-TCGA novel	p.Asn1506Ser	missense variant	-	NC_000002.12:g.227308953A>G	NCI-TCGA
rs754214748	p.Asn1506Lys	missense variant	-	NC_000002.12:g.227308954T>A	ExAC,gnomAD
rs200512461	p.Asn1508Thr	missense variant	-	NC_000002.12:g.227308959A>C	ESP,ExAC,TOPMed,gnomAD
rs200512461	p.Asn1508Ser	missense variant	-	NC_000002.12:g.227308959A>G	ESP,ExAC,TOPMed,gnomAD
RCV000825316	p.Asn1508Ser	missense variant	-	NC_000002.12:g.227308959A>G	ClinVar
RCV000337893	p.Asn1508Ser	missense variant	Alport syndrome	NC_000002.12:g.227308959A>G	ClinVar
RCV000673190	p.Asn1508Ser	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227308959A>G	ClinVar
rs1322053797	p.Val1510Leu	missense variant	-	NC_000002.12:g.227308964G>T	gnomAD
rs1298774711	p.Cys1511Arg	missense variant	-	NC_000002.12:g.227308967T>C	gnomAD
rs765765769	p.Phe1513Ser	missense variant	-	NC_000002.12:g.227308974T>C	ExAC,gnomAD
rs368726092	p.Arg1516Gln	missense variant	-	NC_000002.12:g.227308983G>A	ESP,ExAC,TOPMed,gnomAD
rs759873621	p.Arg1516Ter	stop gained	-	NC_000002.12:g.227308982C>T	gnomAD
RCV000667489	p.Arg1516Ter	nonsense	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227308982C>T	ClinVar
COSM1017367	p.Asn1517Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227308987T>G	NCI-TCGA Cosmic
RCV000722405	p.Asp1518His	missense variant	-	NC_000002.12:g.227308988G>C	ClinVar
rs1273836306	p.Tyr1519Cys	missense variant	-	NC_000002.12:g.227308992A>G	TOPMed
NCI-TCGA novel	p.Trp1522Ter	stop gained	-	NC_000002.12:g.227309002G>A	NCI-TCGA
rs121912825	p.Ser1524Ter	stop gained	-	NC_000002.12:g.227309007C>G	gnomAD
rs121912825	p.Ser1524Leu	missense variant	-	NC_000002.12:g.227309007C>T	gnomAD
RCV000019037	p.Ser1524Ter	nonsense	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227309007C>G	ClinVar
rs1433853870	p.Pro1526Ala	missense variant	-	NC_000002.12:g.227309012C>G	TOPMed
rs1205164666	p.Ala1527Pro	missense variant	-	NC_000002.12:g.227309015G>C	gnomAD
rs777310696	p.Met1529Thr	missense variant	-	NC_000002.12:g.227309022T>C	ExAC,gnomAD
rs746709648	p.Pro1530Thr	missense variant	-	NC_000002.12:g.227309024C>A	ExAC,gnomAD
rs1327058426	p.Met1531Val	missense variant	-	NC_000002.12:g.227309027A>G	TOPMed
rs756916479	p.Met1533Thr	missense variant	-	NC_000002.12:g.227309034T>C	ExAC,TOPMed,gnomAD
rs1253233469	p.Pro1535Arg	missense variant	-	NC_000002.12:g.227309040C>G	gnomAD
rs780647456	p.Ile1536Thr	missense variant	-	NC_000002.12:g.227309043T>C	ExAC,gnomAD
rs1474879040	p.Ile1536Val	missense variant	-	NC_000002.12:g.227309042A>G	TOPMed,gnomAD
rs1417837330	p.Gly1538Ser	missense variant	-	NC_000002.12:g.227309048G>A	gnomAD
rs745660430	p.Ala1540Val	missense variant	-	NC_000002.12:g.227309055C>T	ExAC,TOPMed,gnomAD
rs745660430	p.Ala1540Gly	missense variant	-	NC_000002.12:g.227309055C>G	ExAC,TOPMed,gnomAD
rs1331156059	p.Pro1543Leu	missense variant	-	NC_000002.12:g.227309064C>T	gnomAD
rs1459932746	p.Ser1546Cys	missense variant	-	NC_000002.12:g.227309072A>T	gnomAD
rs745466617	p.Cys1548Tyr	missense variant	-	NC_000002.12:g.227309206G>A	ExAC,gnomAD
rs781021007	p.Cys1548Gly	missense variant	-	NC_000002.12:g.227309205T>G	ExAC,TOPMed,gnomAD
rs200655479	p.Val1550Ala	missense variant	-	NC_000002.12:g.227309212T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs200655479	p.Val1550Gly	missense variant	-	NC_000002.12:g.227309212T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs756020666	p.Val1550Ile	missense variant	-	NC_000002.12:g.227309211G>A	ExAC,gnomAD
rs768624338	p.Cys1551Arg	missense variant	-	NC_000002.12:g.227309214T>C	ExAC,gnomAD
rs1436811964	p.Gly1553Asp	missense variant	-	NC_000002.12:g.227309221G>A	TOPMed
rs1221621618	p.Pro1554Arg	missense variant	-	NC_000002.12:g.227309224C>G	gnomAD
NCI-TCGA novel	p.Pro1554Ser	missense variant	-	NC_000002.12:g.227309223C>T	NCI-TCGA
rs369575989	p.Ala1555Val	missense variant	-	NC_000002.12:g.227309227C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs369575989	p.Ala1555Glu	missense variant	-	NC_000002.12:g.227309227C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs774089446	p.Ala1555Thr	missense variant	-	NC_000002.12:g.227309226G>A	ExAC,TOPMed,gnomAD
rs555790926	p.Ala1557Asp	missense variant	-	NC_000002.12:g.227309233C>A	1000Genomes,ExAC,gnomAD
rs775823265	p.Ala1557Thr	missense variant	-	NC_000002.12:g.227309232G>A	ExAC,TOPMed,gnomAD
rs775823265	p.Ala1557Pro	missense variant	-	NC_000002.12:g.227309232G>C	ExAC,TOPMed,gnomAD
rs574102153	p.Val1560Ile	missense variant	-	NC_000002.12:g.227309241G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1175623035	p.His1561Tyr	missense variant	-	NC_000002.12:g.227309244C>T	gnomAD
rs886055743	p.Thr1564Ile	missense variant	-	NC_000002.12:g.227309254C>T	-
RCV000406972	p.Thr1564Ile	missense variant	Alport syndrome	NC_000002.12:g.227309254C>T	ClinVar
rs1486435471	p.Thr1565Ala	missense variant	-	NC_000002.12:g.227309256A>G	TOPMed
rs371452712	p.Ile1567Thr	missense variant	-	NC_000002.12:g.227309263T>C	ExAC,TOPMed,gnomAD
rs371452712	p.Ile1567Ser	missense variant	-	NC_000002.12:g.227309263T>G	ExAC,TOPMed,gnomAD
rs267599234	p.Pro1568Leu	missense variant	-	NC_000002.12:g.227309266C>T	TOPMed
COSM1017375	p.Pro1568His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227309266C>A	NCI-TCGA Cosmic
rs1224815411	p.His1572Tyr	missense variant	-	NC_000002.12:g.227309277C>T	TOPMed
rs761262391	p.Gly1573Ser	missense variant	-	NC_000002.12:g.227309280G>A	ExAC,TOPMed,gnomAD
rs1334712897	p.Ile1575Val	missense variant	-	NC_000002.12:g.227309286A>G	gnomAD
rs754689850	p.Ile1575Thr	missense variant	-	NC_000002.12:g.227309287T>C	ExAC,gnomAD
rs1439393606	p.Ser1576Cys	missense variant	-	NC_000002.12:g.227309290C>G	gnomAD
rs778933603	p.Lys1579Glu	missense variant	-	NC_000002.12:g.227309298A>G	ExAC,gnomAD
rs541108316	p.Met1585Val	missense variant	-	NC_000002.12:g.227309316A>G	TOPMed,gnomAD
rs541108316	p.Met1585Leu	missense variant	-	NC_000002.12:g.227309316A>C	TOPMed,gnomAD
rs748015560	p.Met1585Ile	missense variant	-	NC_000002.12:g.227309318G>A	ExAC,gnomAD
rs1396148189	p.Ser1588Thr	missense variant	-	NC_000002.12:g.227310783G>C	gnomAD
rs749447224	p.Gly1590Asp	missense variant	-	NC_000002.12:g.227310789G>A	ExAC,TOPMed,gnomAD
rs558813497	p.Ser1591Phe	missense variant	-	NC_000002.12:g.227310792C>T	ExAC,TOPMed,gnomAD
rs370000381	p.Glu1592Asp	missense variant	-	NC_000002.12:g.227310796G>C	ESP,ExAC,gnomAD
rs774573040	p.Glu1592Lys	missense variant	-	NC_000002.12:g.227310794G>A	ExAC,TOPMed,gnomAD
rs373407763	p.Gly1593Val	missense variant	-	NC_000002.12:g.227310798G>T	ESP,ExAC,TOPMed,gnomAD
rs760284809	p.Thr1594Ser	missense variant	-	NC_000002.12:g.227310801C>G	ExAC,TOPMed,gnomAD
rs760284809	p.Thr1594Ile	missense variant	-	NC_000002.12:g.227310801C>T	ExAC,TOPMed,gnomAD
RCV000761225	p.Gly1595Arg	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227310803G>A	ClinVar
rs766208466	p.Gly1595Trp	missense variant	-	NC_000002.12:g.227310803G>T	ExAC,TOPMed,gnomAD
rs766208466	p.Gly1595Arg	missense variant	-	NC_000002.12:g.227310803G>A	ExAC,TOPMed,gnomAD
rs752452590	p.Leu1598Arg	missense variant	-	NC_000002.12:g.227310813T>G	ExAC,TOPMed,gnomAD
RCV000665574	p.Leu1598Arg	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227310813T>G	ClinVar
rs897404585	p.Ser1600Phe	missense variant	-	NC_000002.12:g.227310819C>T	TOPMed,gnomAD
RCV000674928	p.Pro1601Ter	frameshift	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227310822del	ClinVar
rs1034231913	p.Gly1602Ala	missense variant	-	NC_000002.12:g.227310825G>C	TOPMed
rs1064796314	p.Cys1604Trp	missense variant	-	NC_000002.12:g.227310832C>G	TOPMed,gnomAD
RCV000480481	p.Cys1604Trp	missense variant	-	NC_000002.12:g.227310832C>G	ClinVar
rs764046610	p.Glu1607Ter	stop gained	-	NC_000002.12:g.227310839G>T	ExAC,TOPMed,gnomAD
RCV000517806	p.Glu1607Ter	nonsense	-	NC_000002.12:g.227310839G>T	ClinVar
rs751446794	p.Phe1608Leu	missense variant	-	NC_000002.12:g.227310844C>A	ExAC,gnomAD
rs756231749	p.Arg1609Ter	stop gained	-	NC_000002.12:g.227310845C>T	ExAC,TOPMed,gnomAD
rs1380878336	p.Arg1609Gln	missense variant	-	NC_000002.12:g.227310846G>A	TOPMed,gnomAD
RCV000668781	p.Arg1609Ter	nonsense	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227310845C>T	ClinVar
rs749589880	p.Ala1610Asp	missense variant	-	NC_000002.12:g.227310849C>A	ExAC,gnomAD
NCI-TCGA novel	p.Leu1614Val	missense variant	-	NC_000002.12:g.227310860C>G	NCI-TCGA
rs1202018331	p.Cys1616Tyr	missense variant	-	NC_000002.12:g.227310867G>A	TOPMed
rs74379096	p.His1617Gln	missense variant	-	NC_000002.12:g.227310871T>G	TOPMed,gnomAD
rs779137269	p.His1617Asn	missense variant	-	NC_000002.12:g.227310869C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg1619Ile	missense variant	-	NC_000002.12:g.227310876G>T	NCI-TCGA
rs748527311	p.Thr1621Met	missense variant	-	NC_000002.12:g.227310882C>T	ExAC,TOPMed,gnomAD
RCV000671855	p.Tyr1624Ter	nonsense	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227310892C>G	ClinVar
rs1351781261	p.Tyr1624Ter	stop gained	-	NC_000002.12:g.227310892C>G	TOPMed
rs1288500420	p.Tyr1625Cys	missense variant	-	NC_000002.12:g.227310894A>G	TOPMed
NCI-TCGA novel	p.Ser1626Ter	stop gained	-	NC_000002.12:g.227310897C>G	NCI-TCGA
rs773905198	p.Ser1628Ala	missense variant	-	NC_000002.12:g.227310902T>G	ExAC,gnomAD
rs773905198	p.Ser1628Thr	missense variant	-	NC_000002.12:g.227310902T>A	ExAC,gnomAD
RCV000449509	p.Ser1628Ala	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227310902T>G	ClinVar
rs1260353732	p.TyrSer1629Ter	stop gained	-	NC_000002.12:g.227310907_227310908del	gnomAD
rs1348892751	p.Ser1630Asn	missense variant	-	NC_000002.12:g.227310909G>A	gnomAD
NCI-TCGA novel	p.Leu1633Met	missense variant	-	NC_000002.12:g.227310917C>A	NCI-TCGA
rs1485280121	p.Leu1636Ser	missense variant	-	NC_000002.12:g.227310927T>C	gnomAD
rs759033068	p.Pro1638Ser	missense variant	-	NC_000002.12:g.227310932C>T	ExAC,TOPMed,gnomAD
COSM1017377	p.Phe1642Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227310944T>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro1645His	missense variant	-	NC_000002.12:g.227311791C>A	NCI-TCGA
rs775168660	p.Pro1645Leu	missense variant	-	NC_000002.12:g.227311791C>T	ExAC,gnomAD
COSM477012	p.Pro1645Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227311790C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Thr1649Ile	missense variant	-	NC_000002.12:g.227311803C>T	NCI-TCGA
rs1361338552	p.Gly1653Ala	missense variant	-	NC_000002.12:g.227311815G>C	TOPMed,gnomAD
rs1361338552	p.Gly1653Glu	missense variant	-	NC_000002.12:g.227311815G>A	TOPMed,gnomAD
rs1467017246	p.Glu1654Gly	missense variant	-	NC_000002.12:g.227311818A>G	gnomAD
NCI-TCGA novel	p.Glu1654AsnPheSerTerUnk	frameshift	-	NC_000002.12:g.227311814G>-	NCI-TCGA
NCI-TCGA novel	p.Glu1656Lys	missense variant	-	NC_000002.12:g.227311823G>A	NCI-TCGA
NCI-TCGA novel	p.Glu1656Gln	missense variant	-	NC_000002.12:g.227311823G>C	NCI-TCGA
rs193076251	p.Ile1659Val	missense variant	-	NC_000002.12:g.227311832A>G	1000Genomes,ExAC,gnomAD
rs75042602	p.Ile1659Thr	missense variant	-	NC_000002.12:g.227311833T>C	1000Genomes
RCV000670405	p.Ser1660Ter	frameshift	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227311833dup	ClinVar
RCV000671333	p.Ser1660Arg	insertion	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227311834_227311836dup	ClinVar
rs768504613	p.Ser1660Arg	missense variant	-	NC_000002.12:g.227311835A>C	ExAC,gnomAD
rs1310243946	p.Ser1660Arg	missense variant	-	NC_000002.12:g.227311837T>A	gnomAD
RCV000677316	p.Arg1661Cys	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227311838C>T	ClinVar
rs201697532	p.Arg1661Cys	missense variant	-	NC_000002.12:g.227311838C>T	ESP,ExAC,TOPMed,gnomAD
rs201697532	p.Arg1661Cys	missense variant	Alport syndrome 2, autosomal recessive (ATS2)	NC_000002.12:g.227311838C>T	UniProt,dbSNP
VAR_011219	p.Arg1661Cys	missense variant	Alport syndrome 2, autosomal recessive (ATS2)	NC_000002.12:g.227311838C>T	UniProt
rs374158562	p.Arg1661His	missense variant	-	NC_000002.12:g.227311839G>A	ESP,ExAC,TOPMed,gnomAD
RCV000722347	p.Cys1662Tyr	missense variant	-	NC_000002.12:g.227311842G>A	ClinVar
rs1339780318	p.Cys1662Tyr	missense variant	-	NC_000002.12:g.227311842G>A	TOPMed
rs1303148556	p.Gln1663Glu	missense variant	-	NC_000002.12:g.227311844C>G	gnomAD
rs767360877	p.Val1664Leu	missense variant	-	NC_000002.12:g.227311847G>T	ExAC,gnomAD
rs767360877	p.Val1664Met	missense variant	-	NC_000002.12:g.227311847G>A	ExAC,gnomAD
RCV000673499	p.Cys1665Tyr	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227311851G>A	ClinVar
rs376550779	p.Cys1665Tyr	missense variant	-	NC_000002.12:g.227311851G>A	ESP,ExAC,gnomAD
rs910068114	p.Met1666Lys	missense variant	-	NC_000002.12:g.227311854T>A	TOPMed
rs759583948	p.Met1666Val	missense variant	-	NC_000002.12:g.227311853A>G	ExAC,TOPMed,gnomAD
rs759583948	p.Met1666Leu	missense variant	-	NC_000002.12:g.227311853A>C	ExAC,TOPMed,gnomAD
rs910068114	p.Met1666Arg	missense variant	-	NC_000002.12:g.227311854T>G	TOPMed
rs1251988107	p.Lys1668Thr	missense variant	-	NC_000002.12:g.227311860A>C	gnomAD
NCI-TCGA novel	p.Arg1669Thr	missense variant	-	NC_000002.12:g.227311863G>C	NCI-TCGA
rs753032877	p.His1670Gln	missense variant	-	NC_000002.12:g.227311867C>A	ExAC,TOPMed,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000768	Congenital Abnormality	group	BEFREE
C0004096	Asthma	disease	BEFREE
C0004364	Autoimmune Diseases	group	BEFREE
C0007131	Non-Small Cell Lung Carcinoma	disease	BEFREE
C0007134	Renal Cell Carcinoma	disease	BEFREE
C0007137	Squamous cell carcinoma	disease	BEFREE
C0011053	Deafness	phenotype	HPO
C0015230	Exanthema	phenotype	BEFREE
C0017636	Glioblastoma	disease	BEFREE
C0017638	Glioma	disease	BEFREE
C0017658	Glomerulonephritis	disease	BEFREE;HPO;LHGDN;RGD
C0017668	Focal glomerulosclerosis	disease	BEFREE
C0018772	Hearing Loss, Partial	phenotype	HPO
C0018784	Sensorineural Hearing Loss (disorder)	disease	HPO
C0018965	Hematuria	phenotype	HPO;LHGDN
C0020538	Hypertensive disease	group	HPO
C0022658	Kidney Diseases	group	BEFREE
C0022661	Kidney Failure, Chronic	disease	BEFREE;LHGDN
C0024117	Chronic Obstructive Airway Disease	disease	BEFREE;LHGDN
C0024232	Lymphatic Metastasis	disease	BEFREE
C0024299	Lymphoma	group	BEFREE
C0025202	melanoma	disease	BEFREE
C0027092	Myopia	disease	HPO
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0027697	Nephritis	disease	BEFREE;HPO
C0027706	Hereditary nephritis	disease	BEFREE;CTD_human;LHGDN
C0027709	Nephrocalcinosis	disease	HPO
C0027726	Nephrotic Syndrome	group	HPO
C0033687	Proteinuria	phenotype	HPO
C0035078	Kidney Failure	disease	BEFREE
C0085682	Hypophosphatemia	disease	HPO
C0086543	Cataract	disease	HPO
C0151650	Renal fibrosis	disease	BEFREE
C0153381	Malignant neoplasm of mouth	disease	BEFREE
C0220641	Lip and Oral Cavity Carcinoma	disease	BEFREE
C0221239	Rapidly progressive glomerulonephritis	disease	BEFREE
C0238157	Benign hematuria	disease	BEFREE
C0239119	Lenticonus	disease	HPO
C0241908	Hematuria, Benign Familial	disease	BEFREE;CLINVAR;CTD_human;UNIPROT
C0242383	Age related macular degeneration	disease	GWASCAT
C0242528	Azotemia	disease	HPO
C0243038	Carcinoma, Lewis Lung	disease	BEFREE
C0280217	stage, non-small cell lung cancer	disease	BEFREE
C0339284	Polymorphous corneal dystrophy	disease	BEFREE
C0339789	Congenital deafness	disease	HPO
C0344262	Anterior lenticonus	disease	HPO
C0376358	Malignant neoplasm of prostate	disease	BEFREE
C0392163	Corneal erosion	disease	HPO
C0403397	Steroid-resistant nephrotic syndrome	disease	BEFREE
C0403416	Idiopathic crescentic glomerulonephritis	disease	BEFREE
C0403440	Thin basement membrane disease	disease	BEFREE;CTD_human;UNIPROT
C0403529	Anti-Glomerular Basement Membrane Disease	disease	BEFREE
C0445347	Thickening of glomerular basement membrane	phenotype	HPO
C0497247	Increase in blood pressure	phenotype	HPO
C0544008	Chandler syndrome	disease	BEFREE
C0600139	Prostate carcinoma	disease	BEFREE
C0699790	Colon Carcinoma	disease	BEFREE
C1305904	Familial hematuria	disease	BEFREE;GENOMICS_ENGLAND
C1384666	hearing impairment	phenotype	HPO
C1510497	Lens Opacities	phenotype	HPO
C1519670	Tumor Angiogenesis	phenotype	BEFREE
C1536085	Geographic Atrophy	disease	GWASCAT
C1561643	Chronic Kidney Diseases	group	BEFREE
C1563715	Andersen Syndrome	disease	BEFREE
C1565489	Renal Insufficiency	disease	BEFREE
C1567741	Alport Syndrome	disease	BEFREE;CLINVAR;CTD_human
C1567742	Alport Syndrome, X-Linked	disease	BEFREE;CTD_human
C1567743	Alport Syndrome, Autosomal Dominant	disease	BEFREE;CLINVAR;CTD_human;ORPHANET;UNIPROT
C1567744	Alport Syndrome, Autosomal Recessive	disease	BEFREE;CLINVAR;CTD_human;MGD;ORPHANET;UNIPROT
C1621958	Glioblastoma Multiforme	disease	BEFREE
C1821417	RESTING HEART RATE	phenotype	GWASCAT
C1836876	Pierson syndrome	disease	BEFREE
C1855179	CATARACT, ANTERIOR POLAR	disease	HPO
C1857569	CORNEAL ENDOTHELIAL DYSTROPHY 2	disease	BEFREE
C1859726	ARTERIAL TORTUOSITY SYNDROME	disease	BEFREE
C2237660	exudative macular degeneration	disease	GWASCAT
C2239176	Liver carcinoma	disease	BEFREE
C2316810	Chronic kidney disease stage 5	disease	BEFREE;HPO
C2931253	Alport syndrome, dominant type	disease	CTD_human;ORPHANET
C2931254	Alport syndrome, recessive type	disease	CTD_human;ORPHANET
C2931861	Hemorrhagic hereditary nephritis	disease	CTD_human
C3266102	Steroid resistant nephrotic syndrome of childhood	disease	BEFREE
C3276821	Thin glomerular basement membrane	phenotype	HPO
C3278307	Diffuse glomerular basement membrane lamellation	phenotype	HPO
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND
C4280679	Increased calcium level in kidney	phenotype	HPO
C4476526	High urine occult blood	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005178	integrin binding	TAS
GO:0005178	integrin binding	IDA
GO:0005198	structural molecule activity	NAS
GO:0005201	extracellular matrix structural constituent	IBA
GO:0005515	protein binding	IPI
GO:0008191	metalloendopeptidase inhibitor activity	NAS
GO:0030020	extracellular matrix structural constituent conferring tensile strength	RCA
GO:0030020	extracellular matrix structural constituent conferring tensile strength	HDA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process	IDA
GO:0007155	cell adhesion	IEA
GO:0007166	cell surface receptor signaling pathway	NAS
GO:0007605	sensory perception of sound	TAS
GO:0008015	blood circulation	TAS
GO:0008285	negative regulation of cell population proliferation	TAS
GO:0009749	response to glucose	IEA
GO:0010951	negative regulation of endopeptidase activity	IEA
GO:0016525	negative regulation of angiogenesis	IDA
GO:0030198	extracellular matrix organization	IBA
GO:0030198	extracellular matrix organization	TAS
GO:0032836	glomerular basement membrane development	ISS
GO:0038063	collagen-activated tyrosine kinase receptor signaling pathway	IEA
GO:0072577	endothelial cell apoptotic process	IDA
GO:1905563	negative regulation of vascular endothelial cell proliferation	IDA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005576	extracellular region	TAS
GO:0005587	collagen type IV trimer	IDA
GO:0005587	collagen type IV trimer	IBA
GO:0005604	basement membrane	IDA
GO:0005615	extracellular space	IBA
GO:0005783	endoplasmic reticulum	IDA
GO:0005788	endoplasmic reticulum lumen	TAS
GO:0031012	extracellular matrix	IBA
GO:0043231	intracellular membrane-bounded organelle	IDA
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
C028474	1,4-bis(2-(3,5-dichloropyridyloxy))benzene	1,4-bis(2-(3,5-dichloropyridyloxy))benzene results in increased expression of COL4A3 mRNA	28903501
D015058	1-Naphthylisothiocyanate	1-Naphthylisothiocyanate results in decreased expression of COL4A3 mRNA	30723492
C029790	2,2',3',4,4',5-hexachlorobiphenyl	2,2',3',4,4',5-hexachlorobiphenyl results in decreased expression of COL4A3 mRNA	23829299
C009407	2,5,2',5'-tetrachlorobiphenyl	2,5,2',5'-tetrachlorobiphenyl results in increased expression of COL4A3 mRNA	23829299
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Valproic Acid 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 decreased expression of COL4A3 mRNA	27188386
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 COL4A3 mRNA	27188386
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of COL4A3 mRNA	20018196
C496492	abrine	abrine results in decreased expression of COL4A3 mRNA	31054353
C016601	afimoxifene	afimoxifene results in decreased expression of COL4A3 mRNA	23373633
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of COL4A3 mRNA	23630614; 25378103;
C029753	aflatoxin B2	aflatoxin B2 results in decreased methylation of COL4A3 intron	30157460
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of COL4A3 mRNA	16483693
D001151	Arsenic	Arsenic results in decreased expression of COL4A3 mRNA	19654921
C547126	AZM551248	AZM551248 results in decreased expression of COL4A3 mRNA	22323515
D001564	Benzo(a)pyrene	Benzo(a)pyrene affects the methylation of COL4A3 intron	30157460
C026487	benzo(e)pyrene	benzo(e)pyrene results in decreased methylation of COL4A3 intron	30157460
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in decreased expression of COL4A3 mRNA	30616060
C006780	bisphenol A	bisphenol A affects the expression of COL4A3 mRNA	21786754
C006780	bisphenol A	bisphenol A results in decreased expression of COL4A3 mRNA	30816183
C006780	bisphenol A	bisphenol A results in increased expression of COL4A3 mRNA	25181051
C018475	butyraldehyde	butyraldehyde results in decreased expression of COL4A3 mRNA	26079696
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in decreased expression of COL4A3 mRNA	27392435
D002945	Cisplatin	Cisplatin results in decreased expression of COL4A3 mRNA	27392435
D003976	Diazinon	Diazinon results in increased methylation of COL4A3 gene	22964155
D004041	Dietary Fats	Dietary Fats results in increased expression of COL4A3 mRNA	25016146
D004052	Diethylnitrosamine	Diethylnitrosamine results in increased expression of COL4A3 mRNA	24535843
C516138	dorsomorphin	[NOG protein co-treated with Valproic Acid 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 decreased expression of COL4A3 mRNA	27188386
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 COL4A3 mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in decreased expression of COL4A3 mRNA	15033991
D013759	Dronabinol	Dronabinol results in decreased expression of COL4A3 mRNA	15454482
D004726	Endosulfan	Endosulfan results in decreased expression of COL4A3 mRNA	29391264
C574336	excavatolide B	excavatolide B results in decreased expression of COL4A3 protein	26790859
D004397	Fonofos	Fonofos results in increased methylation of COL4A3 promoter	22847954
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in decreased expression of COL4A3 mRNA	27392435
C073601	KT 5823	KT 5823 inhibits the reaction [NOC 18 results in increased expression of COL4A3 mRNA]	21307347
C073601	KT 5823	KT 5823 results in decreased expression of COL4A3 mRNA	21307347
C008261	lead acetate	lead acetate results in increased expression of COL4A3 mRNA	11578147
C482199	lipopolysaccharide, E coli O55-B5	lipopolysaccharide, E coli O55-B5 results in increased expression of COL4A3 mRNA	24972896
D008628	Mercury	Mercury results in increased expression of COL4A3 mRNA	16823088
D008701	Methapyrilene	Methapyrilene results in decreased methylation of COL4A3 intron	30157460
D008727	Methotrexate	Methotrexate results in increased expression of COL4A3 mRNA	24449571
D008770	Methylnitrosourea	Methylnitrosourea results in decreased expression of COL4A3 mRNA	16525678
C452423	N-(4-bromo-2-fluorophenyl)-6-methoxy-7-((1-methylpiperidin-4-yl)methoxy)quinazolin-4-amine	N-(4-bromo-2-fluorophenyl)-6-methoxy-7-((1-methylpiperidin-4-yl)methoxy)quinazolin-4-amine results in increased expression of COL4A3 mRNA	16052530
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of COL4A3 mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in increased expression of COL4A3 mRNA	25554681
D009532	Nickel	Nickel results in increased expression of COL4A3 mRNA	25583101
C093285	NOC 18	KT 5823 inhibits the reaction [NOC 18 results in increased expression of COL4A3 mRNA]	21307347
C093285	NOC 18	NOC 18 results in increased expression of COL4A3 mRNA	21307347
C093285	NOC 18	PRKG1 protein promotes the reaction [NOC 18 results in increased expression of COL4A3 mRNA]	21307347
D009966	Orphenadrine	Orphenadrine affects the expression of COL4A3 mRNA	23665939
D010100	Oxygen	[NFE2L2 protein affects the susceptibility to Oxygen] which affects the expression of COL4A3 mRNA	30529165
D010278	Parathion	Parathion results in increased methylation of COL4A3 promoter	22847954
C410127	PCB 180	PCB 180 results in increased expression of COL4A3 mRNA	23829299
C046012	pentanal	pentanal results in decreased expression of COL4A3 mRNA	26079696
D011192	Potassium Dichromate	Potassium Dichromate results in decreased expression of COL4A3 mRNA	23608068
D012643	Selenium	Selenium results in decreased expression of COL4A3 mRNA	19244175
D012822	Silicon Dioxide	Silicon Dioxide analog results in decreased expression of COL4A3 mRNA	25895662
D013311	Streptozocin	Streptozocin results in increased expression of COL4A3 mRNA	31009641
D013311	Streptozocin	Zinc inhibits the reaction [Streptozocin results in increased expression of COL4A3 mRNA]	31009641
C012568	terbufos	terbufos results in increased methylation of COL4A3 promoter	22847954
C020806	tetrabromobisphenol A	tetrabromobisphenol A results in increased expression of COL4A3 protein	27239688
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of COL4A3 mRNA	21296121
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of COL4A3 mRNA	26377647
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of COL4A3 mRNA	27562557; 28922406;
D013853	Thioacetamide	Thioacetamide results in decreased expression of COL4A3 mRNA	16297948
D013853	Thioacetamide	Thioacetamide results in decreased expression of COL4A3 protein	16297948
C009495	titanium dioxide	titanium dioxide results in decreased expression of COL4A3 mRNA	23557971
C009495	titanium dioxide	titanium dioxide results in increased expression of COL4A3 mRNA	23409001
D014241	Trichloroethylene	Trichloroethylene results in increased methylation of COL4A3 gene	27618143
C012589	trichostatin A	trichostatin A results in increased expression of COL4A3 mRNA	24935251
D014635	Valproic Acid	[NOG protein co-treated with Valproic Acid 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 decreased expression of COL4A3 mRNA	27188386
D014635	Valproic Acid	Valproic Acid results in decreased expression of COL4A3 mRNA	26272509
D014635	Valproic Acid	Valproic Acid results in decreased methylation of COL4A3 gene	29154799
D014635	Valproic Acid	Valproic Acid results in increased expression of COL4A3 mRNA	24935251
C025643	vinclozolin	vinclozolin results in decreased expression of COL4A3 mRNA	22570695
C029297	vinylidene chloride	vinylidene chloride results in decreased expression of COL4A3 mRNA	26682919
D014810	Vitamin E	Vitamin E results in decreased expression of COL4A3 mRNA	19244175
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 COL4A3 mRNA	27188386
D000077337	Vorinostat	Vorinostat results in increased expression of COL4A3 mRNA	26272509
D000077337	Vorinostat	Vorinostat results in increased expression of COL4A3 mRNA	20060208
D015032	Zinc	Zinc inhibits the reaction [Streptozocin results in increased expression of COL4A3 mRNA]	31009641
D000077211	Zoledronic Acid	Zoledronic Acid results in decreased expression of COL4A3 mRNA	24714768

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0023	Alport syndrome
KW-0025	Alternative splicing
KW-0084	Basement membrane
KW-0130	Cell adhesion
KW-0176	Collagen
KW-0209	Deafness
KW-0903	Direct protein sequencing
KW-0225	Disease mutation
KW-1015	Disulfide bond
KW-0272	Extracellular matrix
KW-0325	Glycoprotein
KW-0379	Hydroxylation
KW-0597	Phosphoprotein
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: COL4A3

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

Identified variants/mutations related to cleft phenotype

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