CleftGeneDB-Search

Gene: SDCCAG8

Basic information

Tag	Content
Uniprot ID	Q86SQ7; O60527; Q3ZCR6; Q8N5F2; Q9P0F1;
Entrez ID	10806
Genbank protein ID	AAC18039.1; AAH45832.1; AAO27830.1; AAF28908.1; AAH32454.1;
Genbank nucleotide ID	XM_005273023.4; NM_006642.3;
Ensembl protein ID	ENSP00000355499; ENSP00000483550;
Ensembl nucleotide ID	ENSG00000054282; ENSG00000276111;
Gene name	Serologically defined colon cancer antigen 8
Gene symbol	SDCCAG8
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Plays a role in the establishment of cell polarity and epithelial lumen formation (By similarity). Plays also an essential role in ciliogenesis and subsequent Hedgehog signaling pathway that requires the presence of intact primary cilia for pathway activation. Mechanistically, interacts with and mediates RABEP2 centrosomal localization which is critical for ciliogenesis (PubMed:27224062).
Sequence	MAKSPENSTL EEILGQYQRS LREHASRSIH QLTCALKEGD VTIGEDAPNL SFSTSVGNED 60 ARTAWPELQQ SHAVNQLKDL LRQQADKESE VSPSRRRKMS PLRSLEHEET NMPTMHDLVH 120 TINDQSQYIH HLEAEVKFCK EELSGMKNKI QVVVLENEGL QQQLKSQRQE ETLREQTLLD 180 ASGNMHNSWI TTGEDSGVGE TSKRPFSHDN ADFGKAASAG EQLELEKLKL TYEEKCEIEE 240 SQLKFLRNDL AEYQRTCEDL KEQLKHKEFL LAANTCNRVG GLCLKCAQHE AVLSQTHTNV 300 HMQTIERLVK ERDDLMSALV SVRSSLADTQ QREASAYEQV KQVLQISEEA NFEKTKALIQ 360 CDQLRKELER QAERLEKELA SQQEKRAIEK DMMKKEITKE REYMGSKMLI LSQNIAQLEA 420 QVEKVTKEKI SAINQLEEIQ SQLASREMDV TKVCGEMRYQ LNKTNMEKDE AEKEHREFRA 480 KTNRDLEIKD QEIEKLRIEL DESKQHLEQE QQKAALAREE CLRLTELLGE SEHQLHLTRQ 540 EKDSIQQSFS KEAKAQALQA QQREQELTQK IQQMEAQHDK TENEQYLLLT SQNTFLTKLK 600 EECCTLAKKL EQISQKTRSE IAQLSQEKRY TYDKLGKLQR RNEELEEQCV QHGRVHETMK 660 QRLRQLDKHS QATAQQLVQL LSKQNQLLLE RQSLSEEVDR LRTQLPSMPQ SDC 713

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

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	SDCCAG8	102173768	A0A452F279		Capra hircus	Prediction	More>>
1:1 ortholog	SDCCAG8	10806	Q86SQ7		Homo sapiens	Prediction	More>>
1:1 ortholog	Sdccag8	76816	Q80UF4	CPO	Mus musculus	Publication	More>>
1:1 ortholog	SDCCAG8	469732	K7C6J2		Pan troglodytes	Prediction	More>>
1:1 ortholog			A0A480L6N0		Sus scrofa	Prediction	More>>
1:1 ortholog	SDCCAG8	100353951	G1TAG0		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Sdccag8		A0A0G2JUD0		Rattus norvegicus	Prediction	More>>
1:1 ortholog	sdccag8		A0A140TAU3		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs756729603	p.Ser4Tyr	missense variant	-	NC_000001.11:g.243256184C>A	ExAC,TOPMed,gnomAD
rs756729603	p.Ser4Phe	missense variant	-	NC_000001.11:g.243256184C>T	ExAC,TOPMed,gnomAD
rs1271164856	p.Ser4Thr	missense variant	-	NC_000001.11:g.243256183T>A	gnomAD
rs780396877	p.Pro5Ser	missense variant	-	NC_000001.11:g.243256186C>T	ExAC,TOPMed,gnomAD
rs747363592	p.Pro5Leu	missense variant	-	NC_000001.11:g.243256187C>T	ExAC,gnomAD
rs1201744229	p.Glu6Gln	missense variant	-	NC_000001.11:g.243256189G>C	TOPMed,gnomAD
rs1201744229	p.Glu6Lys	missense variant	-	NC_000001.11:g.243256189G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Glu6Asp	missense variant	-	NC_000001.11:g.243256191G>T	NCI-TCGA
rs777253071	p.Asn7Ser	missense variant	-	NC_000001.11:g.243256193A>G	ExAC,gnomAD
rs769155506	p.Asn7Asp	missense variant	-	NC_000001.11:g.243256192A>G	ExAC,gnomAD
rs545810276	p.Ser8Cys	missense variant	-	NC_000001.11:g.243256196C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs545810276	p.Ser8Tyr	missense variant	-	NC_000001.11:g.243256196C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1193390013	p.Ser8Pro	missense variant	-	NC_000001.11:g.243256195T>C	gnomAD
rs1476678988	p.Thr9Ala	missense variant	-	NC_000001.11:g.243256198A>G	TOPMed,gnomAD
rs1174426189	p.Glu11Val	missense variant	-	NC_000001.11:g.243256205A>T	gnomAD
COSM6125577	p.Glu11Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243256204G>A	NCI-TCGA Cosmic
rs773442925	p.Glu11Gln	missense variant	-	NC_000001.11:g.243256204G>C	ExAC,gnomAD
COSM1473704	p.Glu12Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243256208A>G	NCI-TCGA Cosmic
rs1330731802	p.Ile13Met	missense variant	-	NC_000001.11:g.243256212T>G	TOPMed,gnomAD
rs763172123	p.Ile13Phe	missense variant	-	NC_000001.11:g.243256210A>T	ExAC,TOPMed,gnomAD
rs1298963706	p.Leu14Met	missense variant	-	NC_000001.11:g.243256213C>A	gnomAD
rs1362864982	p.Leu14Pro	missense variant	-	NC_000001.11:g.243256214T>C	gnomAD
rs1398602761	p.Gln16His	missense variant	-	NC_000001.11:g.243256221G>T	gnomAD
rs1270412613	p.Gln16Ter	stop gained	-	NC_000001.11:g.243256219C>T	TOPMed
rs766544254	p.Tyr17Asp	missense variant	-	NC_000001.11:g.243256222T>G	ExAC,gnomAD
NCI-TCGA novel	p.Arg19Trp	missense variant	-	NC_000001.11:g.243256228C>T	NCI-TCGA
rs1236044973	p.Ser20Asn	missense variant	-	NC_000001.11:g.243256232G>A	gnomAD
rs760366880	p.Leu21Pro	missense variant	-	NC_000001.11:g.243256235T>C	ExAC,TOPMed,gnomAD
rs760366880	p.Leu21Arg	missense variant	-	NC_000001.11:g.243256235T>G	ExAC,TOPMed,gnomAD
rs757244638	p.Arg22Gln	missense variant	-	NC_000001.11:g.243256238G>A	ExAC,gnomAD
rs753770267	p.Arg22Trp	missense variant	-	NC_000001.11:g.243256237C>T	ExAC,TOPMed,gnomAD
rs757244638	p.Arg22Pro	missense variant	-	NC_000001.11:g.243256238G>C	ExAC,gnomAD
rs941604656	p.Glu23Lys	missense variant	-	NC_000001.11:g.243256240G>A	TOPMed
rs941604656	p.Glu23Ter	stop gained	-	NC_000001.11:g.243256240G>T	TOPMed
rs1179385721	p.Ser26Gly	missense variant	-	NC_000001.11:g.243270113A>G	gnomAD
rs749885268	p.Ser26Asn	missense variant	-	NC_000001.11:g.243270114G>A	ExAC,gnomAD
rs1158230245	p.Ile29Val	missense variant	-	NC_000001.11:g.243270122A>G	gnomAD
NCI-TCGA novel	p.Thr33Ala	missense variant	-	NC_000001.11:g.243270134A>G	NCI-TCGA
rs754715125	p.Cys34Trp	missense variant	-	NC_000001.11:g.243270139T>G	ExAC,gnomAD
rs1353035363	p.Cys34Phe	missense variant	-	NC_000001.11:g.243270138G>T	TOPMed
rs781638035	p.Ala35Thr	missense variant	-	NC_000001.11:g.243270140G>A	ExAC,gnomAD
rs753147253	p.Glu38Lys	missense variant	-	NC_000001.11:g.243270149G>A	ExAC
rs756642876	p.Gly39Ser	missense variant	-	NC_000001.11:g.243270152G>A	ExAC,gnomAD
rs202114636	p.Asp40Asn	missense variant	-	NC_000001.11:g.243270155G>A	1000Genomes,ExAC,gnomAD
rs770913941	p.Thr42Ser	missense variant	-	NC_000001.11:g.243270162C>G	ExAC,gnomAD
rs554498906	p.Ile43Val	missense variant	-	NC_000001.11:g.243270164A>G	gnomAD
rs779107589	p.Glu45Gly	missense variant	-	NC_000001.11:g.243270171A>G	ExAC,gnomAD
rs779107589	p.Glu45Val	missense variant	-	NC_000001.11:g.243270171A>T	ExAC,gnomAD
rs746020647	p.Asp46Val	missense variant	-	NC_000001.11:g.243270174A>T	ExAC,gnomAD
rs772285144	p.Asn49Ser	missense variant	-	NC_000001.11:g.243270183A>G	ExAC,gnomAD
rs776370459	p.Ser53Arg	missense variant	-	NC_000001.11:g.243270196C>A	ExAC,gnomAD
rs769624417	p.Thr54Ile	missense variant	-	NC_000001.11:g.243270198C>T	ExAC,TOPMed,gnomAD
rs761616528	p.Thr54Ser	missense variant	-	NC_000001.11:g.243270197A>T	ExAC,TOPMed,gnomAD
rs1257193759	p.Ser55Ile	missense variant	-	NC_000001.11:g.243270201G>T	gnomAD
NCI-TCGA novel	p.Gly57SerArgGlyGlyGlnLeuHisTerPro	stop gained	-	NC_000001.11:g.243270207_243270208insTTCTAGGGGTGGTCAGTTGCACTAACC	NCI-TCGA
rs368801248	p.Asn58Lys	missense variant	-	NC_000001.11:g.243270211T>A	ESP,ExAC,gnomAD
rs149928402	p.Ala61Pro	missense variant	-	NC_000001.11:g.243270218G>C	ESP,ExAC,TOPMed,gnomAD
rs1466620787	p.Ala61Asp	missense variant	-	NC_000001.11:g.243270219C>A	gnomAD
rs149928402	p.Ala61Thr	missense variant	-	NC_000001.11:g.243270218G>A	ESP,ExAC,TOPMed,gnomAD
rs149928402	p.Ala61Ser	missense variant	-	NC_000001.11:g.243270218G>T	ESP,ExAC,TOPMed,gnomAD
rs1466620787	p.Ala61Val	missense variant	-	NC_000001.11:g.243270219C>T	gnomAD
rs1171124979	p.Ala64Thr	missense variant	-	NC_000001.11:g.243270227G>A	gnomAD
rs573336252	p.Ala64Val	missense variant	-	NC_000001.11:g.243270228C>T	ExAC,TOPMed,gnomAD
rs1380947147	p.Pro66Ser	missense variant	-	NC_000001.11:g.243270233C>T	gnomAD
rs756518004	p.Glu67Lys	missense variant	-	NC_000001.11:g.243270236G>A	ExAC,gnomAD
rs929473088	p.Glu67Asp	missense variant	-	NC_000001.11:g.243270238A>C	gnomAD
rs778351444	p.Leu68Ile	missense variant	-	NC_000001.11:g.243270239T>A	ExAC,gnomAD
rs778351444	p.Leu68Val	missense variant	-	NC_000001.11:g.243270239T>G	ExAC,gnomAD
rs757663061	p.Val74Gly	missense variant	-	NC_000001.11:g.243270978T>G	ExAC,gnomAD
rs1327638045	p.Gln76Arg	missense variant	-	NC_000001.11:g.243270984A>G	TOPMed
NCI-TCGA novel	p.Leu77Val	missense variant	-	NC_000001.11:g.243270986C>G	NCI-TCGA
rs765793486	p.Lys78Glu	missense variant	-	NC_000001.11:g.243270989A>G	ExAC,gnomAD
rs750977682	p.Lys78Arg	missense variant	-	NC_000001.11:g.243270990A>G	ExAC,TOPMed,gnomAD
rs146474568	p.Asp79Glu	missense variant	-	NC_000001.11:g.243270994T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp79Tyr	missense variant	-	NC_000001.11:g.243270992G>T	NCI-TCGA
RCV000532918	p.Asp79Glu	missense variant	Senior-Loken syndrome 7 (SLSN7)	NC_000001.11:g.243270994T>A	ClinVar
RCV000365007	p.Asp79Glu	missense variant	Bardet-Biedl syndrome (BBS)	NC_000001.11:g.243270994T>A	ClinVar
RCV000310366	p.Asp79Glu	missense variant	Renal dysplasia and retinal aplasia (SLSN)	NC_000001.11:g.243270994T>A	ClinVar
rs1384864639	p.Leu80Val	missense variant	-	NC_000001.11:g.243270995T>G	TOPMed
rs747215236	p.Leu80Phe	missense variant	-	NC_000001.11:g.243270997G>C	ExAC,gnomAD
RCV000436103	p.Arg82Cys	missense variant	-	NC_000001.11:g.243271001C>T	ClinVar
rs577345357	p.Arg82Leu	missense variant	-	NC_000001.11:g.243271002G>T	ExAC,TOPMed,gnomAD
rs577345357	p.Arg82His	missense variant	-	NC_000001.11:g.243271002G>A	ExAC,TOPMed,gnomAD
rs143447584	p.Arg82Cys	missense variant	-	NC_000001.11:g.243271001C>T	ESP,ExAC,TOPMed,gnomAD
rs201658593	p.Gln84Lys	missense variant	-	NC_000001.11:g.243271007C>A	1000Genomes
NCI-TCGA novel	p.Lys87Arg	missense variant	-	NC_000001.11:g.243271017A>G	NCI-TCGA
NCI-TCGA novel	p.Lys87Thr	missense variant	-	NC_000001.11:g.243271017A>C	NCI-TCGA
rs1479508693	p.Lys87Glu	missense variant	-	NC_000001.11:g.243271016A>G	TOPMed
rs770685116	p.Glu88Gly	missense variant	-	NC_000001.11:g.243271020A>G	ExAC,TOPMed,gnomAD
rs770685116	p.Glu88Ala	missense variant	-	NC_000001.11:g.243271020A>C	ExAC,TOPMed,gnomAD
rs949394710	p.Glu90Gly	missense variant	-	NC_000001.11:g.243271026A>G	TOPMed
rs140413256	p.Pro93Arg	missense variant	-	NC_000001.11:g.243271035C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs140413256	p.Pro93Gln	missense variant	-	NC_000001.11:g.243271035C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs140413256	p.Pro93Leu	missense variant	-	NC_000001.11:g.243271035C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000276217	p.Pro93Leu	missense variant	Renal dysplasia and retinal aplasia (SLSN)	NC_000001.11:g.243271035C>T	ClinVar
RCV000389243	p.Pro93Leu	missense variant	Bardet-Biedl syndrome (BBS)	NC_000001.11:g.243271035C>T	ClinVar
rs1284369812	p.Pro93Ser	missense variant	-	NC_000001.11:g.243271034C>T	gnomAD
rs776810375	p.Ser94Thr	missense variant	-	NC_000001.11:g.243271037T>A	ExAC,TOPMed,gnomAD
rs377564587	p.Arg95Gly	missense variant	-	NC_000001.11:g.243271040A>G	ESP,ExAC,TOPMed,gnomAD
rs750921444	p.Lys98Gln	missense variant	-	NC_000001.11:g.243271049A>C	ExAC,gnomAD
rs193291617	p.Met99Ile	missense variant	-	NC_000001.11:g.243271054G>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Met99LeuIleTyrTyrAla	insertion	-	NC_000001.11:g.243271054_243271055insCTGATATATTATGCA	NCI-TCGA
NCI-TCGA novel	p.Met99Leu	missense variant	-	NC_000001.11:g.243271052A>C	NCI-TCGA
NCI-TCGA novel	p.Met99IlePheSerTerUnkUnk	frameshift	-	NC_000001.11:g.243271052_243271053insT	NCI-TCGA
rs371182563	p.Pro101Leu	missense variant	-	NC_000001.11:g.243271059C>T	ESP,ExAC,gnomAD
rs371182563	p.Pro101His	missense variant	-	NC_000001.11:g.243271059C>A	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Leu102Ter	frameshift	-	NC_000001.11:g.243271056C>-	NCI-TCGA
rs773575477	p.Arg103Gly	missense variant	-	NC_000001.11:g.243274543A>G	ExAC,gnomAD
rs1401145435	p.Arg103Ser	missense variant	-	NC_000001.11:g.243274545G>T	gnomAD
COSM3486259	p.Ser104Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243274547C>T	NCI-TCGA Cosmic
rs1467303373	p.Glu106Gly	missense variant	-	NC_000001.11:g.243274553A>G	gnomAD
rs766899717	p.His107Gln	missense variant	-	NC_000001.11:g.243274557T>G	ExAC,gnomAD
rs752112426	p.Glu109Gly	missense variant	-	NC_000001.11:g.243274562A>G	ExAC,gnomAD
NCI-TCGA novel	p.Thr110Ile	missense variant	-	NC_000001.11:g.243274565C>T	NCI-TCGA
NCI-TCGA novel	p.Thr110Ser	missense variant	-	NC_000001.11:g.243274564A>T	NCI-TCGA
rs1448996546	p.Thr110Ala	missense variant	-	NC_000001.11:g.243274564A>G	gnomAD
rs1286341336	p.Thr110Asn	missense variant	-	NC_000001.11:g.243274565C>A	gnomAD
rs759634630	p.Asn111Asp	missense variant	-	NC_000001.11:g.243274567A>G	ExAC,gnomAD
rs759634630	p.Asn111Tyr	missense variant	-	NC_000001.11:g.243274567A>T	ExAC,gnomAD
rs767563520	p.Met112Ile	missense variant	-	NC_000001.11:g.243274572G>A	ExAC,gnomAD
rs1391638572	p.Met112Val	missense variant	-	NC_000001.11:g.243274570A>G	TOPMed
NCI-TCGA novel	p.Asp117Val	missense variant	-	NC_000001.11:g.243274586A>T	NCI-TCGA
rs913322544	p.Asp117Asn	missense variant	-	NC_000001.11:g.243274585G>A	TOPMed,gnomAD
rs149561407	p.Asp117Ala	missense variant	-	NC_000001.11:g.243274586A>C	ESP,ExAC
COSM5380280	p.Leu118Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243274588C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Val119CysPheSerTerUnk	frameshift	-	NC_000001.11:g.243274588_243274589insT	NCI-TCGA
rs778785206	p.His120Arg	missense variant	-	NC_000001.11:g.243274595A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.His120Tyr	missense variant	-	NC_000001.11:g.243274594C>T	NCI-TCGA
rs377473337	p.Ile122Val	missense variant	-	NC_000001.11:g.243274600A>G	ESP,ExAC,TOPMed,gnomAD
rs758051187	p.Ile122Thr	missense variant	-	NC_000001.11:g.243274601T>C	gnomAD
rs1484553079	p.Asp124Gly	missense variant	-	NC_000001.11:g.243274607A>G	TOPMed
rs977933821	p.Gln125Ter	stop gained	-	NC_000001.11:g.243274609C>T	TOPMed,gnomAD
rs780115638	p.Gln125His	missense variant	-	NC_000001.11:g.243274611G>T	ExAC,TOPMed,gnomAD
rs746959035	p.His131Arg	missense variant	-	NC_000001.11:g.243274628A>G	ExAC,gnomAD
rs1379400598	p.His131Asn	missense variant	-	NC_000001.11:g.243274627C>A	gnomAD
rs1166274752	p.Leu132Ser	missense variant	-	NC_000001.11:g.243274631T>C	gnomAD
rs768207230	p.Glu133Ter	stop gained	-	NC_000001.11:g.243274633G>T	ExAC,TOPMed,gnomAD
rs768207230	p.Glu133Lys	missense variant	-	NC_000001.11:g.243274633G>A	ExAC,TOPMed,gnomAD
rs1336327972	p.Ala134Thr	missense variant	-	NC_000001.11:g.243274636G>A	gnomAD
rs780621104	p.Ala134Val	missense variant	-	NC_000001.11:g.243274637C>T	ExAC,gnomAD
rs747774826	p.Glu135Val	missense variant	-	NC_000001.11:g.243274640A>T	ExAC,TOPMed,gnomAD
rs1405261323	p.Glu135Lys	missense variant	-	NC_000001.11:g.243274639G>A	TOPMed
rs1405261323	p.Glu135Ter	stop gained	-	NC_000001.11:g.243274639G>T	TOPMed
rs773522256	p.Cys139Tyr	missense variant	-	NC_000001.11:g.243274652G>A	ExAC,TOPMed,gnomAD
rs773522256	p.Cys139Phe	missense variant	-	NC_000001.11:g.243274652G>T	ExAC,TOPMed,gnomAD
rs769333887	p.Cys139Arg	missense variant	-	NC_000001.11:g.243274651T>C	ExAC,TOPMed,gnomAD
rs763284045	p.Lys140Asn	missense variant	-	NC_000001.11:g.243274656G>T	ExAC,TOPMed,gnomAD
rs371179612	p.Leu143Val	missense variant	-	NC_000001.11:g.243286278C>G	ESP,ExAC,TOPMed,gnomAD
rs371179612	p.Leu143Ile	missense variant	-	NC_000001.11:g.243286278C>A	ESP,ExAC,TOPMed,gnomAD
rs749010399	p.Ser144Ala	missense variant	-	NC_000001.11:g.243286281T>G	ExAC,TOPMed,gnomAD
rs1453249734	p.Ser144Phe	missense variant	-	NC_000001.11:g.243286282C>T	gnomAD
COSM425784	p.Ser144Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243286282C>G	NCI-TCGA Cosmic
rs1251166857	p.Gly145Arg	missense variant	-	NC_000001.11:g.243286284G>A	gnomAD
COSM679632	p.Lys147Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243286291A>T	NCI-TCGA Cosmic
rs1454024385	p.Ile150Thr	missense variant	-	NC_000001.11:g.243286300T>C	gnomAD
NCI-TCGA novel	p.Ile150Met	missense variant	-	NC_000001.11:g.243286301A>G	NCI-TCGA
rs374580113	p.Val152Ile	missense variant	-	NC_000001.11:g.243286305G>A	ESP,ExAC,TOPMed,gnomAD
rs1382571163	p.Val153Leu	missense variant	-	NC_000001.11:g.243286308G>C	gnomAD
rs367590060	p.Glu158Lys	missense variant	-	NC_000001.11:g.243286323G>A	ESP,ExAC,TOPMed,gnomAD
rs797045947	p.Gln161Ter	stop gained	-	NC_000001.11:g.243286332C>T	TOPMed,gnomAD
RCV000193333	p.Gln161Ter	nonsense	Senior-Loken syndrome 7 (SLSN7)	NC_000001.11:g.243286332C>T	ClinVar
rs1369558546	p.Gln162Leu	missense variant	-	NC_000001.11:g.243286336A>T	gnomAD
rs760647221	p.Gln162Glu	missense variant	-	NC_000001.11:g.243286335C>G	ExAC,gnomAD
rs776989165	p.Ser166Cys	missense variant	-	NC_000001.11:g.243286348C>G	ExAC,TOPMed,gnomAD
rs1437289653	p.Gln167Arg	missense variant	-	NC_000001.11:g.243286351A>G	TOPMed
NCI-TCGA novel	p.Gln167His	missense variant	-	NC_000001.11:g.243286352A>C	NCI-TCGA
rs1160995964	p.Glu171Ter	stop gained	-	NC_000001.11:g.243286362G>T	TOPMed,gnomAD
COSM906594	p.Glu171Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243286364G>T	NCI-TCGA Cosmic
rs541533278	p.Leu173Pro	missense variant	-	NC_000001.11:g.243286369T>C	1000Genomes,ExAC,TOPMed,gnomAD
RCV000652118	p.Leu173Pro	missense variant	Senior-Loken syndrome 7 (SLSN7)	NC_000001.11:g.243286369T>C	ClinVar
rs368200875	p.Arg174Lys	missense variant	-	NC_000001.11:g.243286372G>A	ESP,gnomAD
rs767375284	p.Glu175Lys	missense variant	-	NC_000001.11:g.243286374G>A	ExAC,TOPMed,gnomAD
rs767375284	p.Glu175Ter	stop gained	-	NC_000001.11:g.243286374G>T	ExAC,TOPMed,gnomAD
rs773249871	p.Leu178Pro	missense variant	-	NC_000001.11:g.243286384T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Leu179Met	missense variant	-	NC_000001.11:g.243286386C>A	NCI-TCGA
rs372403021	p.Ala181Val	missense variant	-	NC_000001.11:g.243286393C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala181Ser	missense variant	-	NC_000001.11:g.243286392G>T	NCI-TCGA
rs1370803511	p.Gly183Arg	missense variant	-	NC_000001.11:g.243293091G>C	gnomAD
rs752567022	p.Met185Val	missense variant	-	NC_000001.11:g.243293097A>G	ExAC,gnomAD
rs144254594	p.His186Arg	missense variant	-	NC_000001.11:g.243293101A>G	ESP,ExAC,TOPMed,gnomAD
rs144254594	p.His186Pro	missense variant	-	NC_000001.11:g.243293101A>C	ESP,ExAC,TOPMed,gnomAD
rs185077992	p.Asn187Ser	missense variant	-	NC_000001.11:g.243293104A>G	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser188Tyr	missense variant	-	NC_000001.11:g.243293107C>A	NCI-TCGA
COSM3486260	p.Ser188Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243293107C>T	NCI-TCGA Cosmic
rs797045948	p.Trp189Ter	stop gained	-	NC_000001.11:g.243293111G>A	-
RCV000194004	p.Trp189Ter	nonsense	Senior-Loken syndrome 7 (SLSN7)	NC_000001.11:g.243293111G>A	ClinVar
rs753378200	p.Ile190Phe	missense variant	-	NC_000001.11:g.243293112A>T	ExAC,gnomAD
rs150070966	p.Thr191Ile	missense variant	-	NC_000001.11:g.243293116C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000399034	p.Thr191Ile	missense variant	Renal dysplasia and retinal aplasia (SLSN)	NC_000001.11:g.243293116C>T	ClinVar
RCV000763845	p.Thr191Ile	missense variant	Senior-Loken syndrome 7 (SLSN7)	NC_000001.11:g.243293116C>T	ClinVar
RCV000342454	p.Thr191Ile	missense variant	Bardet-Biedl syndrome (BBS)	NC_000001.11:g.243293116C>T	ClinVar
RCV000522463	p.Thr191Ile	missense variant	-	NC_000001.11:g.243293116C>T	ClinVar
rs1297852135	p.Thr192Ile	missense variant	-	NC_000001.11:g.243293119C>T	gnomAD
rs1003029505	p.Thr192Ala	missense variant	-	NC_000001.11:g.243293118A>G	TOPMed,gnomAD
rs750128305	p.Gly193Ala	missense variant	-	NC_000001.11:g.243293122G>C	ExAC,gnomAD
rs750128305	p.Gly193Val	missense variant	-	NC_000001.11:g.243293122G>T	ExAC,gnomAD
rs1256869625	p.Glu194Gln	missense variant	-	NC_000001.11:g.243293124G>C	gnomAD
rs780525378	p.Asp195Val	missense variant	-	NC_000001.11:g.243293128A>T	ExAC,gnomAD
rs1279083657	p.Ser196Tyr	missense variant	-	NC_000001.11:g.243293131C>A	gnomAD
rs747460316	p.Val198Met	missense variant	-	NC_000001.11:g.243293136G>A	ExAC,gnomAD
rs748257473	p.Glu200Lys	missense variant	-	NC_000001.11:g.243293142G>A	ExAC,TOPMed,gnomAD
rs769963982	p.Thr201Ala	missense variant	-	NC_000001.11:g.243293145A>G	ExAC,gnomAD
rs1427470090	p.Thr201Ile	missense variant	-	NC_000001.11:g.243293146C>T	gnomAD
rs1456606708	p.Lys203Glu	missense variant	-	NC_000001.11:g.243293151A>G	TOPMed
rs1176153899	p.Lys203Arg	missense variant	-	NC_000001.11:g.243293152A>G	gnomAD
rs1365716923	p.Pro205Arg	missense variant	-	NC_000001.11:g.243293158C>G	TOPMed
rs1379052420	p.Phe206Ser	missense variant	-	NC_000001.11:g.243293161T>C	gnomAD
rs773304620	p.Ser207Pro	missense variant	-	NC_000001.11:g.243293163T>C	ExAC,gnomAD
NCI-TCGA novel	p.Ser207ProPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.243293160T>-	NCI-TCGA
rs1182767716	p.Ser207Phe	missense variant	-	NC_000001.11:g.243293164C>T	TOPMed
rs763297129	p.His208Arg	missense variant	-	NC_000001.11:g.243293167A>G	ExAC,TOPMed,gnomAD
rs775273268	p.Asn210Ser	missense variant	-	NC_000001.11:g.243293173A>G	ExAC,gnomAD
rs1286985966	p.Ala211Gly	missense variant	-	NC_000001.11:g.243293176C>G	gnomAD
rs1286985966	p.Ala211Val	missense variant	-	NC_000001.11:g.243293176C>T	gnomAD
rs760565857	p.Asp212His	missense variant	-	NC_000001.11:g.243293178G>C	ExAC,gnomAD
rs764042433	p.Lys215Glu	missense variant	-	NC_000001.11:g.243293187A>G	ExAC,gnomAD
rs753823148	p.Ala216Thr	missense variant	-	NC_000001.11:g.243293190G>A	ExAC,TOPMed,gnomAD
rs1350385738	p.Ala216Val	missense variant	-	NC_000001.11:g.243293191C>T	gnomAD
rs1272334660	p.Ala217Thr	missense variant	-	NC_000001.11:g.243293193G>A	TOPMed
rs761283265	p.Ser218Tyr	missense variant	-	NC_000001.11:g.243293197C>A	ExAC,gnomAD
NCI-TCGA novel	p.Ala219Ser	missense variant	-	NC_000001.11:g.243293199G>T	NCI-TCGA
rs373999051	p.Glu221Lys	missense variant	-	NC_000001.11:g.243293205G>A	ESP,ExAC,TOPMed,gnomAD
rs900949463	p.Glu221Gly	missense variant	-	NC_000001.11:g.243293206A>G	TOPMed,gnomAD
rs1470059477	p.Gln222His	missense variant	-	NC_000001.11:g.243293210G>T	gnomAD
rs267607031	p.Lys227Ter	stop gained	-	NC_000001.11:g.243304716A>T	ESP,ExAC,gnomAD
RCV000000078	p.Lys227Ter	nonsense	Bardet-Biedl syndrome 16 (BBS16)	NC_000001.11:g.243304716A>T	ClinVar
rs768424996	p.Leu228Val	missense variant	-	NC_000001.11:g.243304719C>G	ExAC,TOPMed,gnomAD
rs776422346	p.Leu228Pro	missense variant	-	NC_000001.11:g.243304720T>C	ExAC,gnomAD
NCI-TCGA novel	p.Lys229AsnPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.243304721A>-	NCI-TCGA
rs772544112	p.Tyr232Ter	stop gained	-	NC_000001.11:g.243304733T>G	ExAC,TOPMed,gnomAD
rs747968552	p.Tyr232Phe	missense variant	-	NC_000001.11:g.243304732A>T	ExAC,TOPMed
rs747968552	p.Tyr232Ser	missense variant	-	NC_000001.11:g.243304732A>C	ExAC,TOPMed
rs1175941103	p.Glu233Gln	missense variant	-	NC_000001.11:g.243304734G>C	gnomAD
rs902664548	p.Glu234Lys	missense variant	-	NC_000001.11:g.243304737G>A	gnomAD
rs1299404653	p.Cys236Tyr	missense variant	-	NC_000001.11:g.243304744G>A	gnomAD
rs766024310	p.Glu237Gly	missense variant	-	NC_000001.11:g.243304747A>G	ExAC,gnomAD
rs774139674	p.Glu240Lys	missense variant	-	NC_000001.11:g.243304755G>A	ExAC,gnomAD
rs759278534	p.Ser241Pro	missense variant	-	NC_000001.11:g.243304758T>C	ExAC,gnomAD
rs767930611	p.Ser241Phe	missense variant	-	NC_000001.11:g.243304759C>T	ExAC,TOPMed,gnomAD
rs767930611	p.Ser241Tyr	missense variant	-	NC_000001.11:g.243304759C>A	ExAC,TOPMed,gnomAD
rs923218609	p.Gln242Arg	missense variant	-	NC_000001.11:g.243304762A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Leu243Phe	missense variant	-	NC_000001.11:g.243304766G>C	NCI-TCGA
rs754344258	p.Lys244Arg	missense variant	-	NC_000001.11:g.243304768A>G	ExAC,gnomAD
rs757829748	p.Asp249Asn	missense variant	-	NC_000001.11:g.243307993G>A	gnomAD
rs1357310997	p.Leu250Ser	missense variant	-	NC_000001.11:g.243307997T>C	gnomAD
NCI-TCGA novel	p.Ala251Val	missense variant	-	NC_000001.11:g.243308000C>T	NCI-TCGA
NCI-TCGA novel	p.Glu252Gln	missense variant	-	NC_000001.11:g.243308002G>C	NCI-TCGA
rs958074911	p.Gln254Arg	missense variant	-	NC_000001.11:g.243308009A>G	TOPMed
NCI-TCGA novel	p.Arg255Ile	missense variant	-	NC_000001.11:g.243308012G>T	NCI-TCGA
COSM906597	p.Cys257Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243308018G>A	NCI-TCGA Cosmic
rs771025288	p.Glu258Lys	missense variant	-	NC_000001.11:g.243308020G>A	ExAC,gnomAD
RCV000704873	p.Leu260Val	missense variant	Senior-Loken syndrome 7 (SLSN7)	NC_000001.11:g.243308026C>G	ClinVar
RCV000504492	p.Leu260Val	missense variant	-	NC_000001.11:g.243308026C>G	ClinVar
rs201869920	p.Leu260Val	missense variant	-	NC_000001.11:g.243308026C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs149038104	p.Glu262Ter	stop gained	-	NC_000001.11:g.243308032G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs149038104	p.Glu262Gln	missense variant	-	NC_000001.11:g.243308032G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM906598	p.Glu262Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243308034G>T	NCI-TCGA Cosmic
rs1337665597	p.His266Pro	missense variant	-	NC_000001.11:g.243308045A>C	gnomAD
RCV000680221	p.Lys267Ter	nonsense	Senior-Loken syndrome 7 (SLSN7)	NC_000001.11:g.243308047A>T	ClinVar
rs1353587245	p.Glu268Ala	missense variant	-	NC_000001.11:g.243308051A>C	TOPMed
COSM906599	p.Glu268Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.243308050G>T	NCI-TCGA Cosmic
COSM906600	p.Leu270Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243308056C>A	NCI-TCGA Cosmic
COSM414541	p.Leu271Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243308059C>G	NCI-TCGA Cosmic
rs760305679	p.Ala272Val	missense variant	-	NC_000001.11:g.243308063C>T	ExAC,gnomAD
rs760305679	p.Ala272Asp	missense variant	-	NC_000001.11:g.243308063C>A	ExAC,gnomAD
rs769004589	p.Arg278Ser	missense variant	-	NC_000001.11:g.243308080C>A	ExAC,TOPMed,gnomAD
rs200657425	p.Arg278His	missense variant	-	NC_000001.11:g.243308081G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs200657425	p.Arg278Leu	missense variant	-	NC_000001.11:g.243308081G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs769004589	p.Arg278Cys	missense variant	-	NC_000001.11:g.243308080C>T	ExAC,TOPMed,gnomAD
rs1428655766	p.Val279Ala	missense variant	-	NC_000001.11:g.243308084T>C	gnomAD
rs765751496	p.Gly281Asp	missense variant	-	NC_000001.11:g.243308090G>A	ExAC,TOPMed,gnomAD
rs762264766	p.Gly281Ser	missense variant	-	NC_000001.11:g.243308089G>A	ExAC,gnomAD
COSM1560735	p.Gly281Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243308090G>C	NCI-TCGA Cosmic
rs1387290886	p.Leu282Arg	missense variant	-	NC_000001.11:g.243308093T>G	TOPMed
rs762988087	p.Cys286Arg	missense variant	-	NC_000001.11:g.243308104T>C	ExAC,gnomAD
rs762988087	p.Cys286Ser	missense variant	-	NC_000001.11:g.243308104T>A	ExAC,gnomAD
COSM679631	p.Cys286Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243308105G>C	NCI-TCGA Cosmic
COSM679630	p.Ala287Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243308107G>A	NCI-TCGA Cosmic
rs766435425	p.Gln288Glu	missense variant	-	NC_000001.11:g.243308110C>G	ExAC,gnomAD
rs550235853	p.His289Tyr	missense variant	-	NC_000001.11:g.243308113C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs147807589	p.His289Arg	missense variant	-	NC_000001.11:g.243308114A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs777585788	p.Val292Leu	missense variant	-	NC_000001.11:g.243308122G>C	ExAC,gnomAD
rs753709683	p.Leu293Val	missense variant	-	NC_000001.11:g.243308125C>G	ExAC,gnomAD
NCI-TCGA novel	p.Leu293Phe	missense variant	-	NC_000001.11:g.243308125C>T	NCI-TCGA
NCI-TCGA novel	p.Thr296Ile	missense variant	-	NC_000001.11:g.243308135C>T	NCI-TCGA
rs1245691393	p.His297Tyr	missense variant	-	NC_000001.11:g.243308137C>T	gnomAD
rs1267318794	p.His297Arg	missense variant	-	NC_000001.11:g.243308138A>G	gnomAD
rs1227898297	p.Thr298Ala	missense variant	-	NC_000001.11:g.243308140A>G	TOPMed,gnomAD
rs757167654	p.Thr298Ser	missense variant	-	NC_000001.11:g.243308141C>G	ExAC,gnomAD
rs1376840501	p.Asn299Ser	missense variant	-	NC_000001.11:g.243308144A>G	TOPMed
rs778967078	p.Asn299Asp	missense variant	-	NC_000001.11:g.243308143A>G	ExAC,TOPMed,gnomAD
rs745871095	p.Val300Asp	missense variant	-	NC_000001.11:g.243308147T>A	ExAC,gnomAD
rs1187785931	p.Met302Leu	missense variant	-	NC_000001.11:g.243308152A>T	TOPMed,gnomAD
rs1187785931	p.Met302Val	missense variant	-	NC_000001.11:g.243308152A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Met302IlePheSerTerUnk	frameshift	-	NC_000001.11:g.243308153_243308174TGCAGACCATCGAAAGACTGGT>-	NCI-TCGA
rs779445385	p.Gln303Leu	missense variant	-	NC_000001.11:g.243308156A>T	ExAC,gnomAD
rs555358582	p.Gln303Lys	missense variant	-	NC_000001.11:g.243308155C>A	1000Genomes,gnomAD
rs200447734	p.Ile305Val	missense variant	-	NC_000001.11:g.243308161A>G	gnomAD
rs534097517	p.Glu306Gly	missense variant	-	NC_000001.11:g.243308165A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs777002036	p.Glu306Lys	missense variant	-	NC_000001.11:g.243308164G>A	ExAC,TOPMed,gnomAD
rs770183847	p.Glu306Asp	missense variant	-	NC_000001.11:g.243308166A>C	ExAC,TOPMed,gnomAD
RCV000531568	p.Glu306Lys	missense variant	Senior-Loken syndrome 7 (SLSN7)	NC_000001.11:g.243308164G>A	ClinVar
COSM1659888	p.Glu306Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243308164G>C	NCI-TCGA Cosmic
rs149359674	p.Val309Phe	missense variant	-	NC_000001.11:g.243308173G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000180303	p.Val309Ile	missense variant	-	NC_000001.11:g.243308173G>A	ClinVar
rs149359674	p.Val309Ile	missense variant	-	NC_000001.11:g.243308173G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs767707839	p.Arg312Gly	missense variant	-	NC_000001.11:g.243316759A>G	ExAC,gnomAD
rs200294385	p.Leu315Ser	missense variant	-	NC_000001.11:g.243316769T>C	ESP,ExAC,TOPMed,gnomAD
rs200461035	p.Met316Thr	missense variant	-	NC_000001.11:g.243316772T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs368258515	p.Ser317Phe	missense variant	-	NC_000001.11:g.243316775C>T	ESP,ExAC,TOPMed,gnomAD
COSM1296093	p.Ala318Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243316778C>T	NCI-TCGA Cosmic
COSM679629	p.Val320Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243316783G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser321Phe	missense variant	-	NC_000001.11:g.243316787C>T	NCI-TCGA
NCI-TCGA novel	p.Val322Gly	missense variant	-	NC_000001.11:g.243316790T>G	NCI-TCGA
RCV000242555	p.Val322Ile	missense variant	-	NC_000001.11:g.243316789G>A	ClinVar
rs6672843	p.Val322Ile	missense variant	-	NC_000001.11:g.243316789G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs576672580	p.Arg323Lys	missense variant	-	NC_000001.11:g.243316793G>A	TOPMed,gnomAD
rs780738331	p.Ser324Gly	missense variant	-	NC_000001.11:g.243316795A>G	ExAC,gnomAD
rs747505682	p.Ser325Arg	missense variant	-	NC_000001.11:g.243316800C>G	ExAC,gnomAD
rs1400898116	p.Ala327Ser	missense variant	-	NC_000001.11:g.243316804G>T	TOPMed
rs35859404	p.Thr329Met	missense variant	-	NC_000001.11:g.243316811C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr329Lys	missense variant	-	NC_000001.11:g.243316811C>A	NCI-TCGA
NCI-TCGA novel	p.Thr329Arg	missense variant	-	NC_000001.11:g.243316811C>G	NCI-TCGA
RCV000314190	p.Thr329Met	missense variant	Bardet-Biedl syndrome (BBS)	NC_000001.11:g.243316811C>T	ClinVar
RCV000355058	p.Thr329Met	missense variant	Renal dysplasia and retinal aplasia (SLSN)	NC_000001.11:g.243316811C>T	ClinVar
rs749594870	p.Gln331Leu	missense variant	-	NC_000001.11:g.243316817A>T	ExAC,gnomAD
rs771368318	p.Gln331His	missense variant	-	NC_000001.11:g.243316818A>C	ExAC,gnomAD
rs746449124	p.Glu333Lys	missense variant	-	NC_000001.11:g.243316822G>A	ExAC,gnomAD
rs535395368	p.Ser335Arg	missense variant	-	NC_000001.11:g.243316828A>C	1000Genomes,gnomAD
rs1380907511	p.Ala336Thr	missense variant	-	NC_000001.11:g.243316831G>A	TOPMed,gnomAD
rs771991355	p.Tyr337Cys	missense variant	-	NC_000001.11:g.243316835A>G	ExAC,gnomAD
rs1431330757	p.Glu338Gln	missense variant	-	NC_000001.11:g.243316837G>C	TOPMed
rs1308863502	p.Val340Leu	missense variant	-	NC_000001.11:g.243316843G>T	TOPMed,gnomAD
rs145984257	p.Lys341Thr	missense variant	-	NC_000001.11:g.243316847A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs951295161	p.Val343Gly	missense variant	-	NC_000001.11:g.243316853T>G	TOPMed,gnomAD
rs760942783	p.Val343Ile	missense variant	-	NC_000001.11:g.243316852G>A	ExAC,gnomAD
COSM906601	p.Val343Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243316852G>T	NCI-TCGA Cosmic
rs951295161	p.Val343Ala	missense variant	-	NC_000001.11:g.243316853T>C	TOPMed,gnomAD
rs1255301286	p.Ser347Thr	missense variant	-	NC_000001.11:g.243316864T>A	gnomAD
rs1471887962	p.Ala350Asp	missense variant	-	NC_000001.11:g.243316874C>A	TOPMed,gnomAD
rs1162706145	p.Asn351Ser	missense variant	-	NC_000001.11:g.243316877A>G	gnomAD
NCI-TCGA novel	p.Lys354Ile	missense variant	-	NC_000001.11:g.243316886A>T	NCI-TCGA
NCI-TCGA novel	p.Thr355Ser	missense variant	-	NC_000001.11:g.243316888A>T	NCI-TCGA
rs199524638	p.Thr355Asn	missense variant	-	NC_000001.11:g.243316889C>A	1000Genomes,ExAC,gnomAD
RCV000494217	p.Thr355Asn	missense variant	-	NC_000001.11:g.243316889C>A	ClinVar
rs1281285070	p.Gln360Pro	missense variant	-	NC_000001.11:g.243330550A>C	gnomAD
COSM4030241	p.Asp362Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243330556A>C	NCI-TCGA Cosmic
rs756942820	p.Gln363Ter	stop gained	-	NC_000001.11:g.243330558C>T	ExAC,gnomAD
rs779109082	p.Leu364Phe	missense variant	-	NC_000001.11:g.243330563G>T	ExAC,TOPMed,gnomAD
rs1469099766	p.Leu364Met	missense variant	-	NC_000001.11:g.243330561T>A	gnomAD
rs115098969	p.Arg365Thr	missense variant	-	NC_000001.11:g.243330565G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000652119	p.Arg365Lys	missense variant	Senior-Loken syndrome 7 (SLSN7)	NC_000001.11:g.243330565G>A	ClinVar
RCV000173825	p.Arg365Lys	missense variant	-	NC_000001.11:g.243330565G>A	ClinVar
RCV000420793	p.Arg365Lys	missense variant	-	NC_000001.11:g.243330565G>A	ClinVar
RCV000500792	p.Arg365Thr	missense variant	-	NC_000001.11:g.243330565G>C	ClinVar
rs115098969	p.Arg365Lys	missense variant	-	NC_000001.11:g.243330565G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs780671703	p.Glu367Lys	missense variant	-	NC_000001.11:g.243330570G>A	ExAC,TOPMed,gnomAD
rs747582764	p.Glu369Asp	missense variant	-	NC_000001.11:g.243330578G>C	ExAC,gnomAD
rs1471866292	p.Arg370Lys	missense variant	-	NC_000001.11:g.243330580G>A	gnomAD
rs968349091	p.Arg370Gly	missense variant	-	NC_000001.11:g.243330579A>G	TOPMed,gnomAD
rs1157809049	p.Gln371Ter	stop gained	-	NC_000001.11:g.243330582C>T	gnomAD
rs74701277	p.Ala372Val	missense variant	-	NC_000001.11:g.243330586C>T	ExAC,TOPMed,gnomAD
rs1273633593	p.Ala372Thr	missense variant	-	NC_000001.11:g.243330585G>A	TOPMed
rs74701277	p.Ala372Gly	missense variant	-	NC_000001.11:g.243330586C>G	ExAC,TOPMed,gnomAD
rs74579482	p.Glu373Gly	missense variant	-	NC_000001.11:g.243330589A>G	ExAC,gnomAD
rs1161158288	p.Glu373Lys	missense variant	-	NC_000001.11:g.243330588G>A	gnomAD
rs770084716	p.Arg374Ter	stop gained	-	NC_000001.11:g.243330591C>T	ExAC,TOPMed,gnomAD
rs770084716	p.Arg374Gly	missense variant	-	NC_000001.11:g.243330591C>G	ExAC,TOPMed,gnomAD
RCV000785890	p.Arg374Ter	nonsense	Bardet-Biedl syndrome 16 (BBS16)	NC_000001.11:g.243330591C>T	ClinVar
rs553797432	p.Arg374Gln	missense variant	-	NC_000001.11:g.243330592G>A	1000Genomes,ExAC,gnomAD
rs745634199	p.Leu375Phe	missense variant	-	NC_000001.11:g.243330594C>T	ExAC,gnomAD
rs745634199	p.Leu375Ile	missense variant	-	NC_000001.11:g.243330594C>A	ExAC,gnomAD
COSM534005	p.Glu376Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243330597G>C	NCI-TCGA Cosmic
rs771921363	p.Lys377Glu	missense variant	-	NC_000001.11:g.243330600A>G	ExAC
rs1287814651	p.Glu378Lys	missense variant	-	NC_000001.11:g.243330603G>A	gnomAD
rs2275155	p.Glu378Asp	missense variant	-	NC_000001.11:g.243330605A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000319736	p.Glu378Asp	missense variant	Bardet-Biedl syndrome (BBS)	NC_000001.11:g.243330605A>T	ClinVar
rs1372005151	p.Glu378Gly	missense variant	-	NC_000001.11:g.243330604A>G	TOPMed
COSM906602	p.Glu378Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.243330603G>T	NCI-TCGA Cosmic
RCV000608817	p.Glu378Asp	missense variant	Senior-Loken syndrome 7 (SLSN7)	NC_000001.11:g.243330605A>T	ClinVar
RCV000253187	p.Glu378Asp	missense variant	-	NC_000001.11:g.243330605A>T	ClinVar
RCV000259930	p.Glu378Asp	missense variant	Renal dysplasia and retinal aplasia (SLSN)	NC_000001.11:g.243330605A>T	ClinVar
rs1235208015	p.Leu379Ile	missense variant	-	NC_000001.11:g.243330606C>A	gnomAD
rs964673995	p.Gln383Ter	stop gained	-	NC_000001.11:g.243330618C>T	TOPMed
rs1196764263	p.Arg386Gly	missense variant	-	NC_000001.11:g.243330627A>G	gnomAD
rs200987365	p.Arg386Ser	missense variant	-	NC_000001.11:g.243330629G>C	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg386Met	missense variant	-	NC_000001.11:g.243330628G>T	NCI-TCGA
rs761327041	p.Ala387Val	missense variant	-	NC_000001.11:g.243330631C>T	ExAC,gnomAD
rs776238778	p.Ala387Thr	missense variant	-	NC_000001.11:g.243330630G>A	ExAC,gnomAD
RCV000291294	p.Ala387Ter	frameshift	-	NC_000001.11:g.243330630del	ClinVar
rs377237088	p.Ile388Asn	missense variant	-	NC_000001.11:g.243330634T>A	ESP,ExAC,TOPMed,gnomAD
rs764917637	p.Ile388Val	missense variant	-	NC_000001.11:g.243330633A>G	ExAC,gnomAD
rs1367586020	p.Met392Ile	missense variant	-	NC_000001.11:g.243330647G>A	gnomAD
rs1041307493	p.Met392Thr	missense variant	-	NC_000001.11:g.243330646T>C	TOPMed,gnomAD
rs199609539	p.Met393Val	missense variant	-	NC_000001.11:g.243330648A>G	1000Genomes,ExAC,TOPMed,gnomAD
COSM5846027	p.Met393Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243330650G>A	NCI-TCGA Cosmic
rs766904263	p.Lys394Ile	missense variant	-	NC_000001.11:g.243330652A>T	ExAC,gnomAD
rs752053645	p.Lys395Arg	missense variant	-	NC_000001.11:g.243330655A>G	ExAC,gnomAD
rs1428852073	p.Glu396Lys	missense variant	-	NC_000001.11:g.243330657G>A	TOPMed,gnomAD
rs1428852073	p.Glu396Ter	stop gained	-	NC_000001.11:g.243330657G>T	TOPMed,gnomAD
rs79435766	p.Thr398Met	missense variant	-	NC_000001.11:g.243330664C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu400Asp	missense variant	-	NC_000001.11:g.243330671A>C	NCI-TCGA
rs561807399	p.Arg401Thr	missense variant	-	NC_000001.11:g.243330673G>C	1000Genomes,ExAC,gnomAD
rs1298150302	p.Met404Val	missense variant	-	NC_000001.11:g.243330681A>G	gnomAD
rs1049926443	p.Gly405Val	missense variant	-	NC_000001.11:g.243330685G>T	TOPMed
rs1479000209	p.Lys407Glu	missense variant	-	NC_000001.11:g.243330690A>G	TOPMed
rs1304569321	p.Met408Thr	missense variant	-	NC_000001.11:g.243341040T>C	gnomAD
rs752002252	p.Met408Val	missense variant	-	NC_000001.11:g.243341039A>G	ExAC,gnomAD
rs1022554259	p.Leu409Phe	missense variant	-	NC_000001.11:g.243341044G>T	TOPMed,gnomAD
COSM906605	p.Leu409Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243341043T>C	NCI-TCGA Cosmic
rs755492572	p.Ile410Val	missense variant	-	NC_000001.11:g.243341045A>G	ExAC,gnomAD
rs768039452	p.Ser412Tyr	missense variant	-	NC_000001.11:g.243341052C>A	ExAC,gnomAD
NCI-TCGA novel	p.Gln413Ter	stop gained	-	NC_000001.11:g.243341054C>T	NCI-TCGA
rs753213107	p.Ile415Thr	missense variant	-	NC_000001.11:g.243341061T>C	ExAC,gnomAD
rs1345199314	p.Ala416Val	missense variant	-	NC_000001.11:g.243341064C>T	gnomAD
rs530127827	p.Gln417His	missense variant	-	NC_000001.11:g.243341068A>C	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln417Leu	missense variant	-	NC_000001.11:g.243341067A>T	NCI-TCGA
rs1254243995	p.Gln421Arg	missense variant	-	NC_000001.11:g.243341079A>G	TOPMed
NCI-TCGA novel	p.Glu423Lys	missense variant	-	NC_000001.11:g.243341084G>A	NCI-TCGA
rs1245865548	p.Glu423Asp	missense variant	-	NC_000001.11:g.243341086A>C	gnomAD
rs777728424	p.Lys424Asn	missense variant	-	NC_000001.11:g.243341089G>T	ExAC,gnomAD
rs777728424	p.Lys424Asn	missense variant	-	NC_000001.11:g.243341089G>C	ExAC,gnomAD
rs779777531	p.Val425Ala	missense variant	-	NC_000001.11:g.243341091T>C	ExAC,TOPMed,gnomAD
rs370072966	p.Val425Phe	missense variant	-	NC_000001.11:g.243341090G>T	ESP,ExAC,TOPMed,gnomAD
rs370072966	p.Val425Ile	missense variant	-	NC_000001.11:g.243341090G>A	ESP,ExAC,TOPMed,gnomAD
rs201580075	p.Thr426Ala	missense variant	-	NC_000001.11:g.243341093A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000438964	p.Thr426Ala	missense variant	-	NC_000001.11:g.243341093A>G	ClinVar
rs375037219	p.Lys427Gln	missense variant	-	NC_000001.11:g.243341096A>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys427Glu	missense variant	-	NC_000001.11:g.243341096A>G	NCI-TCGA
rs1364309751	p.Glu428Gly	missense variant	-	NC_000001.11:g.243341100A>G	gnomAD
rs781182231	p.Lys429Asn	missense variant	-	NC_000001.11:g.243341104G>T	ExAC,gnomAD
rs143386133	p.Ser431Leu	missense variant	-	NC_000001.11:g.243341109C>T	ESP,TOPMed
rs143386133	p.Ser431Ter	stop gained	-	NC_000001.11:g.243341109C>G	ESP,TOPMed
COSM906606	p.Ser431Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.243341109C>A	NCI-TCGA Cosmic
rs769796315	p.Ile433Val	missense variant	-	NC_000001.11:g.243341114A>G	TOPMed,gnomAD
rs1386762638	p.Ile439Val	missense variant	-	NC_000001.11:g.243341132A>G	gnomAD
rs748089367	p.Ser441Cys	missense variant	-	NC_000001.11:g.243341138A>T	ExAC,gnomAD
rs1465090045	p.Ala444Thr	missense variant	-	NC_000001.11:g.243341147G>A	TOPMed
rs772853104	p.Arg446Gln	missense variant	-	NC_000001.11:g.243341154G>A	ExAC,TOPMed,gnomAD
rs769286565	p.Arg446Trp	missense variant	-	NC_000001.11:g.243341153C>T	ExAC,gnomAD
RCV000000075	p.Glu447Ter	frameshift	Senior-Loken syndrome 7 (SLSN7)	NC_000001.11:g.243341156dup	ClinVar
rs1015302300	p.Met448Arg	missense variant	-	NC_000001.11:g.243341160T>G	TOPMed,gnomAD
rs1015302300	p.Met448Thr	missense variant	-	NC_000001.11:g.243341160T>C	TOPMed,gnomAD
rs762653933	p.Thr451Ile	missense variant	-	NC_000001.11:g.243341169C>T	ExAC,TOPMed,gnomAD
rs1422587582	p.Thr451Ala	missense variant	-	NC_000001.11:g.243341168A>G	TOPMed
rs1057515483	p.Lys452Asn	missense variant	-	NC_000001.11:g.243341173G>T	TOPMed,gnomAD
rs777367811	p.Val453Ala	missense variant	-	NC_000001.11:g.243344216T>C	ExAC,TOPMed,gnomAD
rs1179852986	p.Cys454Arg	missense variant	-	NC_000001.11:g.243344218T>C	gnomAD
NCI-TCGA novel	p.Cys454Phe	missense variant	-	NC_000001.11:g.243344219G>T	NCI-TCGA
rs1167868774	p.Gly455Glu	missense variant	-	NC_000001.11:g.243344222G>A	TOPMed
COSM2155613	p.Glu456Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243344224G>C	NCI-TCGA Cosmic
rs1250974056	p.Met457Lys	missense variant	-	NC_000001.11:g.243344228T>A	TOPMed,gnomAD
rs748784645	p.Arg458His	missense variant	-	NC_000001.11:g.243344231G>A	ExAC,TOPMed,gnomAD
rs770633078	p.Tyr459Cys	missense variant	-	NC_000001.11:g.243344234A>G	ExAC,TOPMed,gnomAD
rs1182496392	p.Tyr459His	missense variant	-	NC_000001.11:g.243344233T>C	TOPMed,gnomAD
rs770633078	p.Tyr459Ser	missense variant	-	NC_000001.11:g.243344234A>C	ExAC,TOPMed,gnomAD
rs79762798	p.Gln460His	missense variant	-	NC_000001.11:g.243344238G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000174354	p.Gln460His	missense variant	-	NC_000001.11:g.243344238G>C	ClinVar
rs1182214930	p.Thr464Asn	missense variant	-	NC_000001.11:g.243344249C>A	TOPMed
rs1479963664	p.Asn465Ser	missense variant	-	NC_000001.11:g.243344252A>G	gnomAD
rs891013696	p.Asn465Lys	missense variant	-	NC_000001.11:g.243344253C>A	TOPMed
rs118064970	p.Glu470Gly	missense variant	-	NC_000001.11:g.243344267A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000153922	p.Glu470Gly	missense variant	-	NC_000001.11:g.243344267A>G	ClinVar
COSM1340745	p.Glu470Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243344267A>C	NCI-TCGA Cosmic
rs775752533	p.Ala471Ser	missense variant	-	NC_000001.11:g.243344269G>T	ExAC,gnomAD
rs1306789578	p.Glu472Val	missense variant	-	NC_000001.11:g.243344273A>T	TOPMed,gnomAD
rs576988620	p.Glu472Lys	missense variant	-	NC_000001.11:g.243344272G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1306789578	p.Glu472Gly	missense variant	-	NC_000001.11:g.243344273A>G	TOPMed,gnomAD
rs764566581	p.Glu472Asp	missense variant	-	NC_000001.11:g.243344274A>C	ExAC,gnomAD
rs576988620	p.Glu472Gln	missense variant	-	NC_000001.11:g.243344272G>C	1000Genomes,ExAC,TOPMed,gnomAD
RCV000000074	p.Glu474Ter	frameshift	Senior-Loken syndrome 7 (SLSN7)	NC_000001.11:g.243344278del	ClinVar
RCV000256021	p.Glu474Ter	frameshift	-	NC_000001.11:g.243344278del	ClinVar
RCV000625956	p.Glu474Ter	frameshift	Bardet-Biedl syndrome (BBS)	NC_000001.11:g.243344278del	ClinVar
rs190941099	p.His475Tyr	missense variant	-	NC_000001.11:g.243344281C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs761873846	p.Arg476Lys	missense variant	-	NC_000001.11:g.243344285G>A	ExAC,TOPMed,gnomAD
rs761873846	p.Arg476Thr	missense variant	-	NC_000001.11:g.243344285G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu477Ter	stop gained	-	NC_000001.11:g.243344287G>T	NCI-TCGA
rs556191085	p.Glu477Gln	missense variant	-	NC_000001.11:g.243344287G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1328696549	p.Arg479Thr	missense variant	-	NC_000001.11:g.243344294G>C	TOPMed
rs750599032	p.Ala480Val	missense variant	-	NC_000001.11:g.243344297C>T	ExAC
RCV000144682	p.Thr482Ter	frameshift	Bardet-Biedl syndrome 16 (BBS16)	NC_000001.11:g.243344302del	ClinVar
RCV000727146	p.Thr482Ter	frameshift	-	NC_000001.11:g.243344302del	ClinVar
rs1273880712	p.Asp485Gly	missense variant	-	NC_000001.11:g.243344312A>G	TOPMed,gnomAD
rs758550495	p.Asp485Asn	missense variant	-	NC_000001.11:g.243344311G>A	ExAC,gnomAD
rs917313292	p.Ile488Asn	missense variant	-	NC_000001.11:g.243344321T>A	TOPMed
rs1422257046	p.Asp490Asn	missense variant	-	NC_000001.11:g.243344326G>A	TOPMed
rs1485929233	p.Gln491Glu	missense variant	-	NC_000001.11:g.243344329C>G	TOPMed,gnomAD
NCI-TCGA novel	p.Gln491Lys	missense variant	-	NC_000001.11:g.243344329C>A	NCI-TCGA
COSM2050865	p.Gln491Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243344330A>G	NCI-TCGA Cosmic
rs1423681895	p.Ile493Met	missense variant	-	NC_000001.11:g.243378726A>G	gnomAD
rs1413452795	p.Glu494Asp	missense variant	-	NC_000001.11:g.243378729G>T	gnomAD
COSM425786	p.Glu494Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243378727G>C	NCI-TCGA Cosmic
rs532817936	p.Leu496Trp	missense variant	-	NC_000001.11:g.243378734T>G	1000Genomes,ExAC,gnomAD
rs1432354431	p.Leu496Phe	missense variant	-	NC_000001.11:g.243378735G>T	TOPMed,gnomAD
rs766487460	p.Arg497Thr	missense variant	-	NC_000001.11:g.243378737G>C	ExAC,gnomAD
rs765529431	p.Ile498Val	missense variant	-	NC_000001.11:g.243378739A>G	ExAC,TOPMed,gnomAD
rs750763148	p.Leu500Met	missense variant	-	NC_000001.11:g.243378745C>A	ExAC,TOPMed,gnomAD
rs894233341	p.Leu500Pro	missense variant	-	NC_000001.11:g.243378746T>C	TOPMed
rs150646039	p.Asp501His	missense variant	-	NC_000001.11:g.243378748G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000193940	p.Asp501His	missense variant	-	NC_000001.11:g.243378748G>C	ClinVar
rs1268810880	p.Ser503Asn	missense variant	-	NC_000001.11:g.243378755G>A	gnomAD
rs778441055	p.Ser503Gly	missense variant	-	NC_000001.11:g.243378754A>G	ExAC,TOPMed,gnomAD
rs980791573	p.Gln505Glu	missense variant	-	NC_000001.11:g.243378760C>G	TOPMed,gnomAD
rs745351109	p.His506Arg	missense variant	-	NC_000001.11:g.243378764A>G	ExAC,gnomAD
rs1429020259	p.Leu507Ser	missense variant	-	NC_000001.11:g.243378767T>C	TOPMed
rs199919586	p.Gln509Glu	missense variant	-	NC_000001.11:g.243378772C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000286243	p.Gln509Glu	missense variant	Renal dysplasia and retinal aplasia (SLSN)	NC_000001.11:g.243378772C>G	ClinVar
RCV000327156	p.Gln509Glu	missense variant	Bardet-Biedl syndrome (BBS)	NC_000001.11:g.243378772C>G	ClinVar
rs1245534369	p.Gln511Arg	missense variant	-	NC_000001.11:g.243378779A>G	gnomAD
rs1201425131	p.Gln511Lys	missense variant	-	NC_000001.11:g.243378778C>A	gnomAD
rs372453555	p.Gln512His	missense variant	-	NC_000001.11:g.243378783G>T	ESP,ExAC,TOPMed,gnomAD
rs200767475	p.Ala515Thr	missense variant	-	NC_000001.11:g.243378790G>A	ExAC,gnomAD
rs776982179	p.Ala517Pro	missense variant	-	NC_000001.11:g.243378796G>C	ExAC
rs770306576	p.Arg518Gly	missense variant	-	NC_000001.11:g.243378799A>G	ExAC,gnomAD
rs999154575	p.Thr525Lys	missense variant	-	NC_000001.11:g.243378821C>A	TOPMed
RCV000761352	p.Glu526Ter	frameshift	Senior-Loken syndrome 7 (SLSN7)	NC_000001.11:g.243378822del	ClinVar
rs762911140	p.Glu526Gln	missense variant	-	NC_000001.11:g.243378823G>C	ExAC,gnomAD
rs766547040	p.Leu528Val	missense variant	-	NC_000001.11:g.243378829C>G	ExAC,gnomAD
rs1330485298	p.Gly529Ala	missense variant	-	NC_000001.11:g.243378833G>C	gnomAD
rs190020173	p.Glu530Gln	missense variant	-	NC_000001.11:g.243378835G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs190020173	p.Glu530Lys	missense variant	-	NC_000001.11:g.243378835G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs535103313	p.Ser531Cys	missense variant	-	NC_000001.11:g.243378839C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs535103313	p.Ser531Tyr	missense variant	-	NC_000001.11:g.243378839C>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu532Asp	missense variant	-	NC_000001.11:g.243378843G>T	NCI-TCGA
rs753709808	p.Glu532Lys	missense variant	-	NC_000001.11:g.243378841G>A	ExAC,gnomAD
rs945649934	p.His533Tyr	missense variant	-	NC_000001.11:g.243378844C>T	gnomAD
rs1357294768	p.Gln534Glu	missense variant	-	NC_000001.11:g.243378847C>G	gnomAD
rs1357294768	p.Gln534Ter	stop gained	-	NC_000001.11:g.243378847C>T	gnomAD
rs1451546982	p.His536Tyr	missense variant	-	NC_000001.11:g.243378853C>T	TOPMed,gnomAD
rs1228351598	p.His536Pro	missense variant	-	NC_000001.11:g.243378854A>C	TOPMed
rs1032332223	p.Leu537Arg	missense variant	-	NC_000001.11:g.243378857T>G	TOPMed
rs765056637	p.Leu537Val	missense variant	-	NC_000001.11:g.243378856C>G	ExAC,gnomAD
rs370441955	p.Thr538Ser	missense variant	-	NC_000001.11:g.243378860C>G	ESP
NCI-TCGA novel	p.Lys542Ter	stop gained	-	NC_000001.11:g.243415709A>T	NCI-TCGA
RCV000144681	p.Asp543Ter	frameshift	Bardet-Biedl syndrome 16 (BBS16)	NC_000001.11:g.243415713_243415716del	ClinVar
rs1053242816	p.Ser544Asn	missense variant	-	NC_000001.11:g.243415716G>A	TOPMed,gnomAD
rs1297691172	p.Ser548Arg	missense variant	-	NC_000001.11:g.243415729C>G	TOPMed,gnomAD
rs775898129	p.Ser548Thr	missense variant	-	NC_000001.11:g.243415728G>C	ExAC,TOPMed,gnomAD
rs1388276184	p.Ser548Arg	missense variant	-	NC_000001.11:g.243415727A>C	TOPMed,gnomAD
rs891562168	p.Ala553Thr	missense variant	-	NC_000001.11:g.243415742G>A	gnomAD
rs1406310957	p.Lys554Gln	missense variant	-	NC_000001.11:g.243415745A>C	gnomAD
rs761699906	p.Gln556Pro	missense variant	-	NC_000001.11:g.243415752A>C	ExAC,TOPMed,gnomAD
rs761699906	p.Gln556Arg	missense variant	-	NC_000001.11:g.243415752A>G	ExAC,TOPMed,gnomAD
rs1348962238	p.Leu558Phe	missense variant	-	NC_000001.11:g.243415757C>T	TOPMed
COSM4821099	p.Gln559Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.243415760C>T	NCI-TCGA Cosmic
rs765140932	p.Gln562Arg	missense variant	-	NC_000001.11:g.243415770A>G	ExAC,gnomAD
rs1300220138	p.Arg563Gly	missense variant	-	NC_000001.11:g.243415772A>G	TOPMed,gnomAD
rs762947754	p.Glu564Gly	missense variant	-	NC_000001.11:g.243415776A>G	ExAC,TOPMed,gnomAD
rs750265815	p.Glu564Gln	missense variant	-	NC_000001.11:g.243415775G>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu564Ter	stop gained	-	NC_000001.11:g.243415775G>T	NCI-TCGA
rs1257084448	p.Gln565Arg	missense variant	-	NC_000001.11:g.243415779A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Glu566Val	missense variant	-	NC_000001.11:g.243415782A>T	NCI-TCGA
rs1483986069	p.Glu566Lys	missense variant	-	NC_000001.11:g.243415781G>A	gnomAD
rs750647231	p.Leu567Val	missense variant	-	NC_000001.11:g.243415784C>G	ExAC,TOPMed,gnomAD
rs751089162	p.Thr568Ile	missense variant	-	NC_000001.11:g.243415788C>T	ExAC,gnomAD
rs752412976	p.Gln569Arg	missense variant	-	NC_000001.11:g.243415791A>G	ExAC,gnomAD
rs780789700	p.Gln569Ter	stop gained	-	NC_000001.11:g.243415790C>T	ExAC,gnomAD
rs1448626324	p.Lys570Arg	missense variant	-	NC_000001.11:g.243415794A>G	gnomAD
rs1176784180	p.Ile571Leu	missense variant	-	NC_000001.11:g.243415796A>T	gnomAD
rs1363663426	p.Gln572Arg	missense variant	-	NC_000001.11:g.243415800A>G	TOPMed
rs1381319822	p.Gln573Pro	missense variant	-	NC_000001.11:g.243415803A>C	gnomAD
RCV000579189	p.Gln573Ter	nonsense	-	NC_000001.11:g.243415802C>T	ClinVar
rs1286714661	p.Gln573Ter	stop gained	-	NC_000001.11:g.243415802C>T	TOPMed
rs756420930	p.Met574Ile	missense variant	-	NC_000001.11:g.243415807G>A	ExAC,TOPMed,gnomAD
COSM6062435	p.Met574Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243415807G>T	NCI-TCGA Cosmic
rs771493123	p.Gln577Pro	missense variant	-	NC_000001.11:g.243415815A>C	ExAC,TOPMed,gnomAD
rs749719225	p.Gln577Glu	missense variant	-	NC_000001.11:g.243415814C>G	ExAC,gnomAD
rs745915721	p.Asp579Val	missense variant	-	NC_000001.11:g.243415821A>T	ExAC,gnomAD
NCI-TCGA novel	p.Asp579Tyr	missense variant	-	NC_000001.11:g.243415820G>T	NCI-TCGA
NCI-TCGA novel	p.Asp579Gly	missense variant	-	NC_000001.11:g.243415821A>G	NCI-TCGA
rs772347866	p.Lys580Gln	missense variant	-	NC_000001.11:g.243415823A>C	ExAC,TOPMed
rs772347866	p.Lys580Glu	missense variant	-	NC_000001.11:g.243415823A>G	ExAC,TOPMed
NCI-TCGA novel	p.Thr581SerTerGlnLeuAsnAsn	stop gained	-	NC_000001.11:g.243415827_243415828insATCATAACAACTAAATAA	NCI-TCGA
COSM464246	p.Asn583Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243417972T>A	NCI-TCGA Cosmic
rs150961792	p.Glu584Lys	missense variant	-	NC_000001.11:g.243417973G>A	ESP,ExAC,TOPMed,gnomAD
rs757605519	p.Glu584Ala	missense variant	-	NC_000001.11:g.243417974A>C	ExAC,gnomAD
rs1195615970	p.Tyr586Cys	missense variant	-	NC_000001.11:g.243417980A>G	TOPMed
rs542690685	p.Tyr586Asn	missense variant	-	NC_000001.11:g.243417979T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs780281311	p.Thr590Ala	missense variant	-	NC_000001.11:g.243417991A>G	ExAC,TOPMed,gnomAD
rs1444038152	p.Gln592Lys	missense variant	-	NC_000001.11:g.243417997C>A	TOPMed
rs768941321	p.Thr594Ala	missense variant	-	NC_000001.11:g.243418003A>G	ExAC,gnomAD
rs776765317	p.Phe595Val	missense variant	-	NC_000001.11:g.243418006T>G	ExAC,gnomAD
RCV000784982	p.Phe595Val	missense variant	Senior-Loken syndrome 7 (SLSN7)	NC_000001.11:g.243418006T>G	ClinVar
RCV000784981	p.Phe595Val	missense variant	Bardet-Biedl syndrome 16 (BBS16)	NC_000001.11:g.243418006T>G	ClinVar
RCV000790917	p.Phe595Val	missense variant	-	NC_000001.11:g.243418006T>G	ClinVar
rs372641187	p.Thr597Lys	missense variant	-	NC_000001.11:g.243418013C>A	ESP,ExAC
NCI-TCGA novel	p.Thr597Ala	missense variant	-	NC_000001.11:g.243418012A>G	NCI-TCGA
rs1411144910	p.Leu599Phe	missense variant	-	NC_000001.11:g.243418020A>C	gnomAD
rs1199896922	p.Glu601Asp	missense variant	-	NC_000001.11:g.243418026A>C	TOPMed
rs770778500	p.Glu602Lys	missense variant	-	NC_000001.11:g.243418027G>A	ExAC,TOPMed,gnomAD
rs774257632	p.Cys603Phe	missense variant	-	NC_000001.11:g.243418031G>T	ExAC,gnomAD
rs759482577	p.Cys604Tyr	missense variant	-	NC_000001.11:g.243418034G>A	ExAC,gnomAD
rs766975053	p.Thr605Ile	missense variant	-	NC_000001.11:g.243418037C>T	ExAC,gnomAD
COSM906608	p.Thr605Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243418036A>G	NCI-TCGA Cosmic
rs760154232	p.Lys608Arg	missense variant	-	NC_000001.11:g.243418046A>G	ExAC,TOPMed,gnomAD
rs1285146744	p.Leu610Pro	missense variant	-	NC_000001.11:g.243418052T>C	TOPMed
rs757630709	p.Gln612Lys	missense variant	-	NC_000001.11:g.243418057C>A	ExAC,gnomAD
rs528435621	p.Thr617Asn	missense variant	-	NC_000001.11:g.243418073C>A	1000Genomes
rs145896729	p.Ser619Tyr	missense variant	-	NC_000001.11:g.243426429C>A	ESP,ExAC,TOPMed,gnomAD
rs1397205149	p.Glu620Gly	missense variant	-	NC_000001.11:g.243426432A>G	TOPMed
NCI-TCGA novel	p.Ala622Ser	missense variant	-	NC_000001.11:g.243426437G>T	NCI-TCGA
rs760231013	p.Ala622Val	missense variant	-	NC_000001.11:g.243426438C>T	ExAC,TOPMed,gnomAD
rs768111847	p.Gln623Arg	missense variant	-	NC_000001.11:g.243426441A>G	ExAC,gnomAD
NCI-TCGA novel	p.Leu624Phe	missense variant	-	NC_000001.11:g.243426443C>T	NCI-TCGA
NCI-TCGA novel	p.Ser625Cys	missense variant	-	NC_000001.11:g.243426446A>T	NCI-TCGA
rs776293737	p.Gln626Lys	missense variant	-	NC_000001.11:g.243426449C>A	ExAC,gnomAD
rs1410019812	p.Glu627Val	missense variant	-	NC_000001.11:g.243426453A>T	gnomAD
rs765653727	p.Arg629Ser	missense variant	-	NC_000001.11:g.243426460G>T	ExAC,TOPMed,gnomAD
rs548855151	p.Arg629Met	missense variant	-	NC_000001.11:g.243426459G>T	1000Genomes,ExAC,gnomAD
rs548855151	p.Arg629Thr	missense variant	-	NC_000001.11:g.243426459G>C	1000Genomes,ExAC,gnomAD
rs138187640	p.Tyr630His	missense variant	-	NC_000001.11:g.243426461T>C	ESP,ExAC,TOPMed,gnomAD
rs565662622	p.Thr631Ile	missense variant	-	NC_000001.11:g.243426465C>T	1000Genomes,ExAC,gnomAD
rs1330860751	p.Asp633Gly	missense variant	-	NC_000001.11:g.243426471A>G	gnomAD
NCI-TCGA novel	p.Asp633Asn	missense variant	-	NC_000001.11:g.243426470G>A	NCI-TCGA
NCI-TCGA novel	p.Asp633His	missense variant	-	NC_000001.11:g.243426470G>C	NCI-TCGA
rs1333905735	p.Lys634Glu	missense variant	-	NC_000001.11:g.243426473A>G	gnomAD
NCI-TCGA novel	p.Lys634Thr	missense variant	-	NC_000001.11:g.243426474A>C	NCI-TCGA
rs752896885	p.Leu638Ser	missense variant	-	NC_000001.11:g.243426486T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg641Thr	missense variant	-	NC_000001.11:g.243426495G>C	NCI-TCGA
COSM906610	p.Arg641Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243426495G>T	NCI-TCGA Cosmic
rs1012914757	p.Asn642Asp	missense variant	-	NC_000001.11:g.243426497A>G	gnomAD
NCI-TCGA novel	p.Glu644Asp	missense variant	-	NC_000001.11:g.243426505A>C	NCI-TCGA
rs1441286815	p.Glu644Gly	missense variant	-	NC_000001.11:g.243426504A>G	gnomAD
rs181033600	p.Leu645Met	missense variant	-	NC_000001.11:g.243426506T>A	1000Genomes
rs185944691	p.Leu645Phe	missense variant	-	NC_000001.11:g.243426508G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1289275011	p.Glu647Val	missense variant	-	NC_000001.11:g.243426513A>T	gnomAD
rs1222947634	p.Glu647Lys	missense variant	-	NC_000001.11:g.243426512G>A	gnomAD
rs367572249	p.Gln648Ter	stop gained	-	NC_000001.11:g.243426515C>T	ESP,ExAC,TOPMed,gnomAD
rs371805116	p.Cys649Arg	missense variant	-	NC_000001.11:g.243426518T>C	ESP,ExAC,TOPMed,gnomAD
RCV000000076	p.Cys649Ter	frameshift	Senior-Loken syndrome 7 (SLSN7)	NC_000001.11:g.243426517_243426518GT[1]	ClinVar
rs746505992	p.His652Arg	missense variant	-	NC_000001.11:g.243426528A>G	ExAC,TOPMed,gnomAD
rs1452709438	p.Gly653Glu	missense variant	-	NC_000001.11:g.243426531G>A	gnomAD
rs1479850463	p.Arg654Ser	missense variant	-	NC_000001.11:g.243426535A>C	gnomAD
rs1267378140	p.Arg654Gly	missense variant	-	NC_000001.11:g.243426533A>G	gnomAD
RCV000261879	p.Val655Ile	missense variant	-	NC_000001.11:g.243426536G>A	ClinVar
rs1415587153	p.Val655Glu	missense variant	-	NC_000001.11:g.243426537T>A	TOPMed
rs776040834	p.Val655Ile	missense variant	-	NC_000001.11:g.243426536G>A	ExAC,TOPMed,gnomAD
rs761503701	p.His656Arg	missense variant	-	NC_000001.11:g.243426540A>G	ExAC,TOPMed,gnomAD
rs1262692904	p.His656Asn	missense variant	-	NC_000001.11:g.243426539C>A	TOPMed,gnomAD
rs1262692904	p.His656Tyr	missense variant	-	NC_000001.11:g.243426539C>T	TOPMed,gnomAD
rs761503701	p.His656Leu	missense variant	-	NC_000001.11:g.243426540A>T	ExAC,TOPMed,gnomAD
rs1157794544	p.Glu657Ala	missense variant	-	NC_000001.11:g.243426543A>C	gnomAD
rs773035864	p.Glu657Lys	missense variant	-	NC_000001.11:g.243426542G>A	ExAC,gnomAD
COSM1560734	p.Glu657Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243426543A>G	NCI-TCGA Cosmic
RCV000351823	p.Thr658Met	missense variant	Renal dysplasia and retinal aplasia (SLSN)	NC_000001.11:g.243426546C>T	ClinVar
RCV000292253	p.Thr658Met	missense variant	Bardet-Biedl syndrome (BBS)	NC_000001.11:g.243426546C>T	ClinVar
rs1057515530	p.Thr658Met	missense variant	-	NC_000001.11:g.243426546C>T	TOPMed,gnomAD
rs375244541	p.Met659Thr	missense variant	-	NC_000001.11:g.243426549T>C	ESP,ExAC,gnomAD
rs537214737	p.Met659Val	missense variant	-	NC_000001.11:g.243426548A>G	1000Genomes,ExAC,gnomAD
rs141230462	p.Lys660Gln	missense variant	-	NC_000001.11:g.243426551A>C	ESP,TOPMed
rs751286389	p.Leu663Ile	missense variant	-	NC_000001.11:g.243489015C>A	ExAC,gnomAD
rs1446535595	p.Lys668Glu	missense variant	-	NC_000001.11:g.243489030A>G	TOPMed
rs1336926482	p.His669Gln	missense variant	-	NC_000001.11:g.243489035C>G	TOPMed,gnomAD
NCI-TCGA novel	p.Ser670Asn	missense variant	-	NC_000001.11:g.243489037G>A	NCI-TCGA
rs1326176310	p.Ala672Thr	missense variant	-	NC_000001.11:g.243489042G>A	TOPMed
rs1256449972	p.Ala674Val	missense variant	-	NC_000001.11:g.243489049C>T	gnomAD
rs748157088	p.Gln675Arg	missense variant	-	NC_000001.11:g.243489052A>G	ExAC,gnomAD
rs1242245359	p.Gln676Glu	missense variant	-	NC_000001.11:g.243489054C>G	TOPMed,gnomAD
NCI-TCGA novel	p.Gln676His	missense variant	-	NC_000001.11:g.243489056G>T	NCI-TCGA
COSM6125572	p.Leu677Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243489057C>G	NCI-TCGA Cosmic
rs755629522	p.Val678Leu	missense variant	-	NC_000001.11:g.243489060G>T	ExAC,TOPMed,gnomAD
rs755629522	p.Val678Met	missense variant	-	NC_000001.11:g.243489060G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln679Leu	missense variant	-	NC_000001.11:g.243489064A>T	NCI-TCGA
NCI-TCGA novel	p.Gln679Arg	missense variant	-	NC_000001.11:g.243489064A>G	NCI-TCGA
rs1365519418	p.Asn685Thr	missense variant	-	NC_000001.11:g.243489082A>C	TOPMed
NCI-TCGA novel	p.Leu689Gln	missense variant	-	NC_000001.11:g.243489094T>A	NCI-TCGA
rs1334951618	p.Arg691Lys	missense variant	-	NC_000001.11:g.243489100G>A	gnomAD
COSM4844104	p.Arg691Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243489100G>C	NCI-TCGA Cosmic
rs1367234572	p.Gln692Arg	missense variant	-	NC_000001.11:g.243489103A>G	TOPMed,gnomAD
rs770511642	p.Gln692Ter	stop gained	-	NC_000001.11:g.243489102C>T	ExAC,gnomAD
rs1205844381	p.Ser693Asn	missense variant	-	NC_000001.11:g.243489106G>A	TOPMed
COSM6062433	p.Ser693Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243489106G>T	NCI-TCGA Cosmic
rs774092854	p.Leu694Pro	missense variant	-	NC_000001.11:g.243489109T>C	ExAC,TOPMed,gnomAD
rs746212924	p.Ser695Trp	missense variant	-	NC_000001.11:g.243489112C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu697Lys	missense variant	-	NC_000001.11:g.243489117G>A	NCI-TCGA
rs978082572	p.Glu697Asp	missense variant	-	NC_000001.11:g.243489119G>T	gnomAD
rs761172746	p.Arg700Gln	missense variant	-	NC_000001.11:g.243489127G>A	ExAC,TOPMed,gnomAD
rs761172746	p.Arg700Pro	missense variant	-	NC_000001.11:g.243489127G>C	ExAC,TOPMed,gnomAD
rs369591883	p.Arg700Trp	missense variant	-	NC_000001.11:g.243489126C>T	ESP,ExAC,TOPMed,gnomAD
rs182859748	p.Arg702Trp	missense variant	-	NC_000001.11:g.243489132C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs368583241	p.Thr703Ile	missense variant	-	NC_000001.11:g.243489136C>T	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Leu705Val	missense variant	-	NC_000001.11:g.243499756T>G	NCI-TCGA
rs778488043	p.Met708Val	missense variant	-	NC_000001.11:g.243499765A>G	ExAC,gnomAD
rs1489827909	p.Pro709Leu	missense variant	-	NC_000001.11:g.243499769C>T	gnomAD
rs750000450	p.Gln710Ter	stop gained	-	NC_000001.11:g.243499771C>T	ExAC,gnomAD
rs1474766803	p.SerAspCys711SerAspTerLeuUnk	stop gained	-	NC_000001.11:g.243499781_243499782insATTG	gnomAD
rs756729603	p.Ser4Tyr	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243256184C>A	ExAC,TOPMed,gnomAD
rs1271164856	p.Ser4Thr	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243256183T>A	gnomAD
rs756729603	p.Ser4Phe	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243256184C>T	ExAC,TOPMed,gnomAD
rs780396877	p.Pro5Ser	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243256186C>T	ExAC,TOPMed,gnomAD
rs747363592	p.Pro5Leu	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243256187C>T	ExAC,gnomAD
rs1201744229	p.Glu6Gln	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243256189G>C	TOPMed,gnomAD
rs1201744229	p.Glu6Lys	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243256189G>A	TOPMed,gnomAD
rs769155506	p.Asn7Asp	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243256192A>G	ExAC,gnomAD
rs777253071	p.Asn7Ser	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243256193A>G	ExAC,gnomAD
rs545810276	p.Ser8Cys	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243256196C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs545810276	p.Ser8Tyr	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243256196C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1193390013	p.Ser8Pro	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243256195T>C	gnomAD
rs1476678988	p.Thr9Ala	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243256198A>G	TOPMed,gnomAD
rs773442925	p.Glu11Gln	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243256204G>C	ExAC,gnomAD
rs1174426189	p.Glu11Val	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243256205A>T	gnomAD
rs1330731802	p.Ile13Met	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243256212T>G	TOPMed,gnomAD
rs763172123	p.Ile13Phe	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243256210A>T	ExAC,TOPMed,gnomAD
rs1298963706	p.Leu14Met	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243256213C>A	gnomAD
rs1362864982	p.Leu14Pro	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243256214T>C	gnomAD
rs1270412613	p.Gln16Ter	stop gained	-	CHR_HSCHR1_3_CTG32_1:g.243256219C>T	TOPMed
rs1398602761	p.Gln16His	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243256221G>T	gnomAD
rs766544254	p.Tyr17Asp	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243256222T>G	ExAC,gnomAD
rs1236044973	p.Ser20Asn	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243256232G>A	gnomAD
rs760366880	p.Leu21Pro	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243256235T>C	ExAC,TOPMed,gnomAD
rs760366880	p.Leu21Arg	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243256235T>G	ExAC,TOPMed,gnomAD
rs757244638	p.Arg22Pro	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243256238G>C	ExAC,gnomAD
rs753770267	p.Arg22Trp	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243256237C>T	ExAC,TOPMed,gnomAD
rs757244638	p.Arg22Gln	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243256238G>A	ExAC,gnomAD
rs941604656	p.Glu23Lys	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243256240G>A	TOPMed
rs941604656	p.Glu23Ter	stop gained	-	CHR_HSCHR1_3_CTG32_1:g.243256240G>T	TOPMed
rs749885268	p.Ser26Asn	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270114G>A	ExAC,gnomAD
rs1179385721	p.Ser26Gly	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270113A>G	gnomAD
rs1158230245	p.Ile29Val	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270122A>G	gnomAD
rs1353035363	p.Cys34Phe	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270138G>T	TOPMed
rs754715125	p.Cys34Trp	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270139T>G	ExAC,gnomAD
rs781638035	p.Ala35Thr	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270140G>A	ExAC,gnomAD
rs753147253	p.Glu38Lys	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270149G>A	ExAC
rs756642876	p.Gly39Ser	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270152G>A	ExAC,gnomAD
rs202114636	p.Asp40Asn	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270155G>A	1000Genomes,ExAC,gnomAD
rs770913941	p.Thr42Ser	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270162C>G	ExAC,gnomAD
rs554498906	p.Ile43Val	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270164A>G	gnomAD
rs779107589	p.Glu45Val	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270171A>T	ExAC,gnomAD
rs779107589	p.Glu45Gly	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270171A>G	ExAC,gnomAD
rs746020647	p.Asp46Val	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270174A>T	ExAC,gnomAD
rs772285144	p.Asn49Ser	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270183A>G	ExAC,gnomAD
rs776370459	p.Ser53Arg	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270196C>A	ExAC,gnomAD
rs761616528	p.Thr54Ser	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270197A>T	ExAC,TOPMed,gnomAD
rs769624417	p.Thr54Ile	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270198C>T	ExAC,TOPMed,gnomAD
rs1257193759	p.Ser55Ile	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270201G>T	gnomAD
rs368801248	p.Asn58Lys	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270211T>A	ESP,ExAC,gnomAD
rs149928402	p.Ala61Pro	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270218G>C	ESP,ExAC,TOPMed,gnomAD
rs1466620787	p.Ala61Asp	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270219C>A	gnomAD
rs149928402	p.Ala61Ser	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270218G>T	ESP,ExAC,TOPMed,gnomAD
rs149928402	p.Ala61Thr	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270218G>A	ESP,ExAC,TOPMed,gnomAD
rs1466620787	p.Ala61Val	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270219C>T	gnomAD
rs1171124979	p.Ala64Thr	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270227G>A	gnomAD
rs573336252	p.Ala64Val	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270228C>T	ExAC,TOPMed,gnomAD
rs1380947147	p.Pro66Ser	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270233C>T	gnomAD
rs929473088	p.Glu67Asp	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270238A>C	gnomAD
rs756518004	p.Glu67Lys	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270236G>A	ExAC,gnomAD
rs778351444	p.Leu68Ile	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270239T>A	ExAC,gnomAD
rs778351444	p.Leu68Val	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270239T>G	ExAC,gnomAD
rs757663061	p.Val74Gly	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270978T>G	ExAC,gnomAD
rs1327638045	p.Gln76Arg	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270984A>G	TOPMed
rs765793486	p.Lys78Glu	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270989A>G	ExAC,gnomAD
rs750977682	p.Lys78Arg	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270990A>G	ExAC,TOPMed,gnomAD
rs146474568	p.Asp79Glu	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270994T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1384864639	p.Leu80Val	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270995T>G	TOPMed
rs747215236	p.Leu80Phe	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270997G>C	ExAC,gnomAD
rs143447584	p.Arg82Cys	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243271001C>T	ESP,ExAC,TOPMed,gnomAD
rs577345357	p.Arg82Leu	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243271002G>T	ExAC,TOPMed,gnomAD
rs577345357	p.Arg82His	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243271002G>A	ExAC,TOPMed,gnomAD
rs201658593	p.Gln84Lys	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243271007C>A	1000Genomes
rs1479508693	p.Lys87Glu	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243271016A>G	TOPMed
rs770685116	p.Glu88Gly	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243271020A>G	ExAC,TOPMed,gnomAD
rs770685116	p.Glu88Ala	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243271020A>C	ExAC,TOPMed,gnomAD
rs949394710	p.Glu90Gly	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243271026A>G	TOPMed
rs140413256	p.Pro93Leu	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243271035C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs140413256	p.Pro93Arg	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243271035C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1284369812	p.Pro93Ser	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243271034C>T	gnomAD
rs140413256	p.Pro93Gln	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243271035C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs776810375	p.Ser94Thr	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243271037T>A	ExAC,TOPMed,gnomAD
rs377564587	p.Arg95Gly	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243271040A>G	ESP,ExAC,TOPMed,gnomAD
rs750921444	p.Lys98Gln	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243271049A>C	ExAC,gnomAD
rs193291617	p.Met99Ile	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243271054G>A	1000Genomes,ExAC,gnomAD
rs371182563	p.Pro101Leu	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243271059C>T	ESP,ExAC,gnomAD
rs371182563	p.Pro101His	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243271059C>A	ESP,ExAC,gnomAD
rs1401145435	p.Arg103Ser	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243274545G>T	gnomAD
rs773575477	p.Arg103Gly	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243274543A>G	ExAC,gnomAD
rs1467303373	p.Glu106Gly	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243274553A>G	gnomAD
rs766899717	p.His107Gln	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243274557T>G	ExAC,gnomAD
rs752112426	p.Glu109Gly	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243274562A>G	ExAC,gnomAD
rs1286341336	p.Thr110Asn	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243274565C>A	gnomAD
rs1448996546	p.Thr110Ala	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243274564A>G	gnomAD
rs759634630	p.Asn111Tyr	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243274567A>T	ExAC,gnomAD
rs759634630	p.Asn111Asp	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243274567A>G	ExAC,gnomAD
rs1391638572	p.Met112Val	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243274570A>G	TOPMed
rs767563520	p.Met112Ile	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243274572G>A	ExAC,gnomAD
rs149561407	p.Asp117Ala	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243274586A>C	ESP,ExAC
rs913322544	p.Asp117Asn	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243274585G>A	TOPMed,gnomAD
rs778785206	p.His120Arg	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243274595A>G	ExAC,TOPMed,gnomAD
rs758051187	p.Ile122Thr	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243274601T>C	gnomAD
rs377473337	p.Ile122Val	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243274600A>G	ESP,ExAC,TOPMed,gnomAD
rs1484553079	p.Asp124Gly	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243274607A>G	TOPMed
rs780115638	p.Gln125His	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243274611G>T	ExAC,TOPMed,gnomAD
rs977933821	p.Gln125Ter	stop gained	-	CHR_HSCHR1_3_CTG32_1:g.243274609C>T	TOPMed,gnomAD
rs1379400598	p.His131Asn	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243274627C>A	gnomAD
rs746959035	p.His131Arg	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243274628A>G	ExAC,gnomAD
rs1166274752	p.Leu132Ser	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243274631T>C	gnomAD
rs768207230	p.Glu133Lys	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243274633G>A	ExAC,TOPMed,gnomAD
rs768207230	p.Glu133Ter	stop gained	-	CHR_HSCHR1_3_CTG32_1:g.243274633G>T	ExAC,TOPMed,gnomAD
rs1336327972	p.Ala134Thr	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243274636G>A	gnomAD
rs780621104	p.Ala134Val	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243274637C>T	ExAC,gnomAD
rs747774826	p.Glu135Val	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243274640A>T	ExAC,TOPMed,gnomAD
rs1405261323	p.Glu135Ter	stop gained	-	CHR_HSCHR1_3_CTG32_1:g.243274639G>T	TOPMed
rs1405261323	p.Glu135Lys	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243274639G>A	TOPMed
rs769333887	p.Cys139Arg	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243274651T>C	ExAC,TOPMed,gnomAD
rs773522256	p.Cys139Tyr	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243274652G>A	ExAC,TOPMed,gnomAD
rs773522256	p.Cys139Phe	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243274652G>T	ExAC,TOPMed,gnomAD
rs763284045	p.Lys140Asn	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243274656G>T	ExAC,TOPMed,gnomAD
rs371179612	p.Leu143Val	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243286278C>G	ESP,ExAC,TOPMed,gnomAD
rs371179612	p.Leu143Ile	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243286278C>A	ESP,ExAC,TOPMed,gnomAD
rs749010399	p.Ser144Ala	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243286281T>G	ExAC,TOPMed,gnomAD
rs1453249734	p.Ser144Phe	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243286282C>T	gnomAD
rs1251166857	p.Gly145Arg	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243286284G>A	gnomAD
rs1454024385	p.Ile150Thr	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243286300T>C	gnomAD
rs374580113	p.Val152Ile	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243286305G>A	ESP,ExAC,TOPMed,gnomAD
rs1382571163	p.Val153Leu	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243286308G>C	gnomAD
rs367590060	p.Glu158Lys	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243286323G>A	ESP,ExAC,TOPMed,gnomAD
rs797045947	p.Gln161Ter	stop gained	-	CHR_HSCHR1_3_CTG32_1:g.243286332C>T	TOPMed,gnomAD
rs1369558546	p.Gln162Leu	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243286336A>T	gnomAD
rs760647221	p.Gln162Glu	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243286335C>G	ExAC,gnomAD
rs776989165	p.Ser166Cys	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243286348C>G	ExAC,TOPMed,gnomAD
rs1437289653	p.Gln167Arg	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243286351A>G	TOPMed
rs1160995964	p.Glu171Ter	stop gained	-	CHR_HSCHR1_3_CTG32_1:g.243286362G>T	TOPMed,gnomAD
rs541533278	p.Leu173Pro	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243286369T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs368200875	p.Arg174Lys	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243286372G>A	ESP,gnomAD
rs767375284	p.Glu175Ter	stop gained	-	CHR_HSCHR1_3_CTG32_1:g.243286374G>T	ExAC,TOPMed,gnomAD
rs767375284	p.Glu175Lys	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243286374G>A	ExAC,TOPMed,gnomAD
rs773249871	p.Leu178Pro	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243286384T>C	TOPMed,gnomAD
rs372403021	p.Ala181Val	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243286393C>T	ESP,ExAC,TOPMed,gnomAD
rs1370803511	p.Gly183Arg	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293091G>C	gnomAD
rs752567022	p.Met185Val	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293097A>G	ExAC,gnomAD
rs144254594	p.His186Arg	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293101A>G	ESP,ExAC,TOPMed,gnomAD
rs144254594	p.His186Pro	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293101A>C	ESP,ExAC,TOPMed,gnomAD
rs185077992	p.Asn187Ser	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293104A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs753378200	p.Ile190Phe	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293112A>T	ExAC,gnomAD
rs150070966	p.Thr191Ile	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293116C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1297852135	p.Thr192Ile	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293119C>T	gnomAD
rs1003029505	p.Thr192Ala	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293118A>G	TOPMed,gnomAD
rs750128305	p.Gly193Ala	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293122G>C	ExAC,gnomAD
rs750128305	p.Gly193Val	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293122G>T	ExAC,gnomAD
rs1256869625	p.Glu194Gln	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293124G>C	gnomAD
rs780525378	p.Asp195Val	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293128A>T	ExAC,gnomAD
rs1279083657	p.Ser196Tyr	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293131C>A	gnomAD
rs747460316	p.Val198Met	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293136G>A	ExAC,gnomAD
rs748257473	p.Glu200Lys	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293142G>A	ExAC,TOPMed,gnomAD
rs1427470090	p.Thr201Ile	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293146C>T	gnomAD
rs769963982	p.Thr201Ala	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293145A>G	ExAC,gnomAD
rs1176153899	p.Lys203Arg	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293152A>G	gnomAD
rs1456606708	p.Lys203Glu	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293151A>G	TOPMed
rs1365716923	p.Pro205Arg	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293158C>G	TOPMed
rs1379052420	p.Phe206Ser	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293161T>C	gnomAD
rs1182767716	p.Ser207Phe	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293164C>T	TOPMed
rs773304620	p.Ser207Pro	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293163T>C	ExAC,gnomAD
rs763297129	p.His208Arg	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293167A>G	ExAC,TOPMed,gnomAD
rs775273268	p.Asn210Ser	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293173A>G	ExAC,gnomAD
rs1286985966	p.Ala211Val	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293176C>T	gnomAD
rs1286985966	p.Ala211Gly	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293176C>G	gnomAD
rs760565857	p.Asp212His	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293178G>C	ExAC,gnomAD
rs764042433	p.Lys215Glu	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293187A>G	ExAC,gnomAD
rs1350385738	p.Ala216Val	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293191C>T	gnomAD
rs753823148	p.Ala216Thr	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293190G>A	ExAC,TOPMed,gnomAD
rs1272334660	p.Ala217Thr	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293193G>A	TOPMed
rs761283265	p.Ser218Tyr	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293197C>A	ExAC,gnomAD
rs900949463	p.Glu221Gly	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293206A>G	TOPMed,gnomAD
rs373999051	p.Glu221Lys	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293205G>A	ESP,ExAC,TOPMed,gnomAD
rs1470059477	p.Gln222His	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293210G>T	gnomAD
rs267607031	p.Lys227Ter	stop gained	-	CHR_HSCHR1_3_CTG32_1:g.243304716A>T	ESP,ExAC,gnomAD
rs776422346	p.Leu228Pro	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243304720T>C	ExAC,gnomAD
rs768424996	p.Leu228Val	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243304719C>G	ExAC,TOPMed,gnomAD
rs772544112	p.Tyr232Ter	stop gained	-	CHR_HSCHR1_3_CTG32_1:g.243304733T>G	ExAC,TOPMed,gnomAD
rs747968552	p.Tyr232Phe	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243304732A>T	ExAC,TOPMed
rs747968552	p.Tyr232Ser	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243304732A>C	ExAC,TOPMed
rs1175941103	p.Glu233Gln	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243304734G>C	gnomAD
rs902664548	p.Glu234Lys	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243304737G>A	gnomAD
rs1299404653	p.Cys236Tyr	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243304744G>A	gnomAD
rs766024310	p.Glu237Gly	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243304747A>G	ExAC,gnomAD
rs774139674	p.Glu240Lys	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243304755G>A	ExAC,gnomAD
rs767930611	p.Ser241Tyr	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243304759C>A	ExAC,TOPMed,gnomAD
rs767930611	p.Ser241Phe	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243304759C>T	ExAC,TOPMed,gnomAD
rs759278534	p.Ser241Pro	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243304758T>C	ExAC,gnomAD
rs923218609	p.Gln242Arg	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243304762A>G	TOPMed,gnomAD
rs754344258	p.Lys244Arg	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243304768A>G	ExAC,gnomAD
rs757829748	p.Asp249Asn	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243307993G>A	gnomAD
rs1357310997	p.Leu250Ser	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243307997T>C	gnomAD
rs958074911	p.Gln254Arg	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308009A>G	TOPMed
rs771025288	p.Glu258Lys	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308020G>A	ExAC,gnomAD
rs201869920	p.Leu260Val	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308026C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs149038104	p.Glu262Gln	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308032G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs149038104	p.Glu262Ter	stop gained	-	CHR_HSCHR1_3_CTG32_1:g.243308032G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1337665597	p.His266Pro	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308045A>C	gnomAD
rs1353587245	p.Glu268Ala	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308051A>C	TOPMed
rs760305679	p.Ala272Asp	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308063C>A	ExAC,gnomAD
rs760305679	p.Ala272Val	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308063C>T	ExAC,gnomAD
rs200657425	p.Arg278His	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308081G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs769004589	p.Arg278Ser	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308080C>A	ExAC,TOPMed,gnomAD
rs769004589	p.Arg278Cys	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308080C>T	ExAC,TOPMed,gnomAD
rs200657425	p.Arg278Leu	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308081G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1428655766	p.Val279Ala	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308084T>C	gnomAD
rs765751496	p.Gly281Asp	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308090G>A	ExAC,TOPMed,gnomAD
rs762264766	p.Gly281Ser	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308089G>A	ExAC,gnomAD
rs1387290886	p.Leu282Arg	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308093T>G	TOPMed
rs762988087	p.Cys286Ser	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308104T>A	ExAC,gnomAD
rs762988087	p.Cys286Arg	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308104T>C	ExAC,gnomAD
rs766435425	p.Gln288Glu	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308110C>G	ExAC,gnomAD
rs147807589	p.His289Arg	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308114A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs550235853	p.His289Tyr	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308113C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs777585788	p.Val292Leu	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308122G>C	ExAC,gnomAD
rs753709683	p.Leu293Val	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308125C>G	ExAC,gnomAD
rs1267318794	p.His297Arg	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308138A>G	gnomAD
rs1245691393	p.His297Tyr	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308137C>T	gnomAD
rs757167654	p.Thr298Ser	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308141C>G	ExAC,gnomAD
rs1227898297	p.Thr298Ala	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308140A>G	TOPMed,gnomAD
rs778967078	p.Asn299Asp	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308143A>G	ExAC,TOPMed,gnomAD
rs1376840501	p.Asn299Ser	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308144A>G	TOPMed
rs745871095	p.Val300Asp	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308147T>A	ExAC,gnomAD
rs1187785931	p.Met302Val	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308152A>G	TOPMed,gnomAD
rs1187785931	p.Met302Leu	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308152A>T	TOPMed,gnomAD
rs779445385	p.Gln303Leu	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308156A>T	ExAC,gnomAD
rs555358582	p.Gln303Lys	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308155C>A	1000Genomes,gnomAD
rs200447734	p.Ile305Val	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308161A>G	gnomAD
rs777002036	p.Glu306Lys	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308164G>A	ExAC,TOPMed,gnomAD
rs770183847	p.Glu306Asp	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308166A>C	ExAC,TOPMed,gnomAD
rs534097517	p.Glu306Gly	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308165A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs149359674	p.Val309Ile	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308173G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs149359674	p.Val309Phe	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308173G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs767707839	p.Arg312Gly	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243316759A>G	ExAC,gnomAD
rs200294385	p.Leu315Ser	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243316769T>C	ESP,ExAC,TOPMed,gnomAD
rs200461035	p.Met316Thr	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243316772T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs368258515	p.Ser317Phe	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243316775C>T	ESP,ExAC,TOPMed,gnomAD
rs6672843	p.Val322Ile	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243316789G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs576672580	p.Arg323Lys	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243316793G>A	TOPMed,gnomAD
rs780738331	p.Ser324Gly	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243316795A>G	ExAC,gnomAD
rs747505682	p.Ser325Arg	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243316800C>G	ExAC,gnomAD
rs1400898116	p.Ala327Ser	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243316804G>T	TOPMed
rs35859404	p.Thr329Met	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243316811C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs749594870	p.Gln331Leu	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243316817A>T	ExAC,gnomAD
rs771368318	p.Gln331His	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243316818A>C	ExAC,gnomAD
rs746449124	p.Glu333Lys	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243316822G>A	ExAC,gnomAD
rs535395368	p.Ser335Arg	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243316828A>C	1000Genomes,gnomAD
rs1380907511	p.Ala336Thr	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243316831G>A	TOPMed,gnomAD
rs771991355	p.Tyr337Cys	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243316835A>G	ExAC,gnomAD
rs1431330757	p.Glu338Gln	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243316837G>C	TOPMed
rs1308863502	p.Val340Leu	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243316843G>T	TOPMed,gnomAD
rs145984257	p.Lys341Thr	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243316847A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs951295161	p.Val343Gly	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243316853T>G	TOPMed,gnomAD
rs951295161	p.Val343Ala	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243316853T>C	TOPMed,gnomAD
rs760942783	p.Val343Ile	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243316852G>A	ExAC,gnomAD
rs1255301286	p.Ser347Thr	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243316864T>A	gnomAD
rs1471887962	p.Ala350Asp	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243316874C>A	TOPMed,gnomAD
rs1162706145	p.Asn351Ser	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243316877A>G	gnomAD
rs199524638	p.Thr355Asn	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243316889C>A	1000Genomes,ExAC,gnomAD
rs1281285070	p.Gln360Pro	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330550A>C	gnomAD
rs756942820	p.Gln363Ter	stop gained	-	CHR_HSCHR1_3_CTG32_1:g.243330558C>T	ExAC,gnomAD
rs779109082	p.Leu364Phe	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330563G>T	ExAC,TOPMed,gnomAD
rs1469099766	p.Leu364Met	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330561T>A	gnomAD
rs115098969	p.Arg365Lys	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330565G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs115098969	p.Arg365Thr	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330565G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs780671703	p.Glu367Lys	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330570G>A	ExAC,TOPMed,gnomAD
rs747582764	p.Glu369Asp	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330578G>C	ExAC,gnomAD
rs968349091	p.Arg370Gly	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330579A>G	TOPMed,gnomAD
rs1471866292	p.Arg370Lys	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330580G>A	gnomAD
rs1157809049	p.Gln371Ter	stop gained	-	CHR_HSCHR1_3_CTG32_1:g.243330582C>T	gnomAD
rs74701277	p.Ala372Val	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330586C>T	ExAC,TOPMed,gnomAD
rs74701277	p.Ala372Gly	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330586C>G	ExAC,TOPMed,gnomAD
rs1273633593	p.Ala372Thr	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330585G>A	TOPMed
rs1161158288	p.Glu373Lys	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330588G>A	gnomAD
rs74579482	p.Glu373Gly	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330589A>G	ExAC,gnomAD
rs770084716	p.Arg374Gly	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330591C>G	ExAC,TOPMed,gnomAD
rs553797432	p.Arg374Gln	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330592G>A	1000Genomes,ExAC,gnomAD
rs770084716	p.Arg374Ter	stop gained	-	CHR_HSCHR1_3_CTG32_1:g.243330591C>T	ExAC,TOPMed,gnomAD
rs745634199	p.Leu375Phe	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330594C>T	ExAC,gnomAD
rs745634199	p.Leu375Ile	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330594C>A	ExAC,gnomAD
rs771921363	p.Lys377Glu	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330600A>G	ExAC
rs2275155	p.Glu378Asp	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330605A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1372005151	p.Glu378Gly	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330604A>G	TOPMed
rs1287814651	p.Glu378Lys	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330603G>A	gnomAD
rs1235208015	p.Leu379Ile	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330606C>A	gnomAD
rs964673995	p.Gln383Ter	stop gained	-	CHR_HSCHR1_3_CTG32_1:g.243330618C>T	TOPMed
rs200987365	p.Arg386Ser	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330629G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1196764263	p.Arg386Gly	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330627A>G	gnomAD
rs761327041	p.Ala387Val	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330631C>T	ExAC,gnomAD
rs776238778	p.Ala387Thr	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330630G>A	ExAC,gnomAD
rs764917637	p.Ile388Val	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330633A>G	ExAC,gnomAD
rs377237088	p.Ile388Asn	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330634T>A	ESP,ExAC,TOPMed,gnomAD
rs1367586020	p.Met392Ile	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330647G>A	gnomAD
rs1041307493	p.Met392Thr	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330646T>C	TOPMed,gnomAD
rs199609539	p.Met393Val	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330648A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs766904263	p.Lys394Ile	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330652A>T	ExAC,gnomAD
rs752053645	p.Lys395Arg	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330655A>G	ExAC,gnomAD
rs1428852073	p.Glu396Lys	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330657G>A	TOPMed,gnomAD
rs1428852073	p.Glu396Ter	stop gained	-	CHR_HSCHR1_3_CTG32_1:g.243330657G>T	TOPMed,gnomAD
rs79435766	p.Thr398Met	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330664C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs561807399	p.Arg401Thr	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330673G>C	1000Genomes,ExAC,gnomAD
rs1298150302	p.Met404Val	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330681A>G	gnomAD
rs1049926443	p.Gly405Val	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330685G>T	TOPMed
rs1479000209	p.Lys407Glu	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330690A>G	TOPMed
rs1304569321	p.Met408Thr	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243341040T>C	gnomAD
rs752002252	p.Met408Val	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243341039A>G	ExAC,gnomAD
rs1022554259	p.Leu409Phe	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243341044G>T	TOPMed,gnomAD
rs755492572	p.Ile410Val	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243341045A>G	ExAC,gnomAD
rs768039452	p.Ser412Tyr	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243341052C>A	ExAC,gnomAD
rs753213107	p.Ile415Thr	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243341061T>C	ExAC,gnomAD
rs1345199314	p.Ala416Val	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243341064C>T	gnomAD
rs530127827	p.Gln417His	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243341068A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1254243995	p.Gln421Arg	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243341079A>G	TOPMed
rs1245865548	p.Glu423Asp	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243341086A>C	gnomAD
rs777728424	p.Lys424Asn	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243341089G>T	ExAC,gnomAD
rs777728424	p.Lys424Asn	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243341089G>C	ExAC,gnomAD
rs370072966	p.Val425Phe	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243341090G>T	ESP,ExAC,TOPMed,gnomAD
rs370072966	p.Val425Ile	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243341090G>A	ESP,ExAC,TOPMed,gnomAD
rs779777531	p.Val425Ala	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243341091T>C	ExAC,TOPMed,gnomAD
rs201580075	p.Thr426Ala	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243341093A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs375037219	p.Lys427Gln	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243341096A>C	ESP,ExAC,TOPMed,gnomAD
rs1364309751	p.Glu428Gly	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243341100A>G	gnomAD
rs781182231	p.Lys429Asn	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243341104G>T	ExAC,gnomAD
rs143386133	p.Ser431Leu	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243341109C>T	ESP,TOPMed
rs143386133	p.Ser431Ter	stop gained	-	CHR_HSCHR1_3_CTG32_1:g.243341109C>G	ESP,TOPMed
rs769796315	p.Ile433Val	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243341114A>G	TOPMed,gnomAD
rs1386762638	p.Ile439Val	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243341132A>G	gnomAD
rs748089367	p.Ser441Cys	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243341138A>T	ExAC,gnomAD
rs1465090045	p.Ala444Thr	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243341147G>A	TOPMed
rs769286565	p.Arg446Trp	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243341153C>T	ExAC,gnomAD
rs772853104	p.Arg446Gln	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243341154G>A	ExAC,TOPMed,gnomAD
rs1015302300	p.Met448Thr	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243341160T>C	TOPMed,gnomAD
rs1015302300	p.Met448Arg	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243341160T>G	TOPMed,gnomAD
rs762653933	p.Thr451Ile	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243341169C>T	ExAC,TOPMed,gnomAD
rs1422587582	p.Thr451Ala	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243341168A>G	TOPMed
rs1057515483	p.Lys452Asn	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243341173G>T	TOPMed,gnomAD
rs777367811	p.Val453Ala	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243344216T>C	ExAC,TOPMed,gnomAD
rs1179852986	p.Cys454Arg	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243344218T>C	gnomAD
rs1167868774	p.Gly455Glu	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243344222G>A	TOPMed
rs1250974056	p.Met457Lys	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243344228T>A	TOPMed,gnomAD
rs748784645	p.Arg458His	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243344231G>A	ExAC,TOPMed,gnomAD
rs770633078	p.Tyr459Ser	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243344234A>C	ExAC,TOPMed,gnomAD
rs1182496392	p.Tyr459His	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243344233T>C	TOPMed,gnomAD
rs770633078	p.Tyr459Cys	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243344234A>G	ExAC,TOPMed,gnomAD
rs79762798	p.Gln460His	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243344238G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1182214930	p.Thr464Asn	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243344249C>A	TOPMed
rs891013696	p.Asn465Lys	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243344253C>A	TOPMed
rs1479963664	p.Asn465Ser	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243344252A>G	gnomAD
rs118064970	p.Glu470Gly	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243344267A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs775752533	p.Ala471Ser	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243344269G>T	ExAC,gnomAD
rs764566581	p.Glu472Asp	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243344274A>C	ExAC,gnomAD
rs1306789578	p.Glu472Gly	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243344273A>G	TOPMed,gnomAD
rs1306789578	p.Glu472Val	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243344273A>T	TOPMed,gnomAD
rs576988620	p.Glu472Lys	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243344272G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs576988620	p.Glu472Gln	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243344272G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs190941099	p.His475Tyr	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243344281C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs761873846	p.Arg476Thr	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243344285G>C	ExAC,TOPMed,gnomAD
rs761873846	p.Arg476Lys	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243344285G>A	ExAC,TOPMed,gnomAD
rs556191085	p.Glu477Gln	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243344287G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1328696549	p.Arg479Thr	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243344294G>C	TOPMed
rs750599032	p.Ala480Val	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243344297C>T	ExAC
rs758550495	p.Asp485Asn	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243344311G>A	ExAC,gnomAD
rs1273880712	p.Asp485Gly	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243344312A>G	TOPMed,gnomAD
rs917313292	p.Ile488Asn	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243344321T>A	TOPMed
rs1422257046	p.Asp490Asn	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243344326G>A	TOPMed
rs1485929233	p.Gln491Glu	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243344329C>G	TOPMed,gnomAD
rs1423681895	p.Ile493Met	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378726A>G	gnomAD
rs1413452795	p.Glu494Asp	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378729G>T	gnomAD
rs1432354431	p.Leu496Phe	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378735G>T	TOPMed,gnomAD
rs532817936	p.Leu496Trp	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378734T>G	1000Genomes,ExAC,gnomAD
rs766487460	p.Arg497Thr	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378737G>C	ExAC,gnomAD
rs765529431	p.Ile498Val	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378739A>G	ExAC,TOPMed,gnomAD
rs894233341	p.Leu500Pro	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378746T>C	TOPMed
rs750763148	p.Leu500Met	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378745C>A	ExAC,TOPMed,gnomAD
rs150646039	p.Asp501His	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378748G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1268810880	p.Ser503Asn	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378755G>A	gnomAD
rs778441055	p.Ser503Gly	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378754A>G	ExAC,TOPMed,gnomAD
rs980791573	p.Gln505Glu	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378760C>G	TOPMed,gnomAD
rs745351109	p.His506Arg	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378764A>G	ExAC,gnomAD
rs1429020259	p.Leu507Ser	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378767T>C	TOPMed
rs199919586	p.Gln509Glu	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378772C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1245534369	p.Gln511Arg	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378779A>G	gnomAD
rs1201425131	p.Gln511Lys	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378778C>A	gnomAD
rs372453555	p.Gln512His	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378783G>T	ESP,ExAC,TOPMed,gnomAD
rs200767475	p.Ala515Thr	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378790G>A	ExAC,gnomAD
rs776982179	p.Ala517Pro	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378796G>C	ExAC
rs770306576	p.Arg518Gly	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378799A>G	ExAC,gnomAD
rs999154575	p.Thr525Lys	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378821C>A	TOPMed
rs762911140	p.Glu526Gln	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378823G>C	ExAC,gnomAD
rs766547040	p.Leu528Val	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378829C>G	ExAC,gnomAD
rs1330485298	p.Gly529Ala	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378833G>C	gnomAD
rs190020173	p.Glu530Lys	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378835G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs190020173	p.Glu530Gln	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378835G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs535103313	p.Ser531Cys	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378839C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs535103313	p.Ser531Tyr	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378839C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs753709808	p.Glu532Lys	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378841G>A	ExAC,gnomAD
rs945649934	p.His533Tyr	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378844C>T	gnomAD
rs1357294768	p.Gln534Ter	stop gained	-	CHR_HSCHR1_3_CTG32_1:g.243378847C>T	gnomAD
rs1357294768	p.Gln534Glu	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378847C>G	gnomAD
rs1228351598	p.His536Pro	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378854A>C	TOPMed
rs1451546982	p.His536Tyr	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378853C>T	TOPMed,gnomAD
rs765056637	p.Leu537Val	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378856C>G	ExAC,gnomAD
rs1032332223	p.Leu537Arg	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378857T>G	TOPMed
rs370441955	p.Thr538Ser	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378860C>G	ESP
rs1053242816	p.Ser544Asn	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243415716G>A	TOPMed,gnomAD
rs775898129	p.Ser548Thr	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243415728G>C	ExAC,TOPMed,gnomAD
rs1388276184	p.Ser548Arg	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243415727A>C	TOPMed,gnomAD
rs1297691172	p.Ser548Arg	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243415729C>G	TOPMed,gnomAD
rs891562168	p.Ala553Thr	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243415742G>A	gnomAD
rs1406310957	p.Lys554Gln	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243415745A>C	gnomAD
rs761699906	p.Gln556Pro	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243415752A>C	ExAC,TOPMed,gnomAD
rs761699906	p.Gln556Arg	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243415752A>G	ExAC,TOPMed,gnomAD
rs1348962238	p.Leu558Phe	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243415757C>T	TOPMed
rs765140932	p.Gln562Arg	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243415770A>G	ExAC,gnomAD
rs1300220138	p.Arg563Gly	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243415772A>G	TOPMed,gnomAD
rs750265815	p.Glu564Gln	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243415775G>C	ExAC,gnomAD
rs762947754	p.Glu564Gly	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243415776A>G	ExAC,TOPMed,gnomAD
rs1257084448	p.Gln565Arg	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243415779A>G	TOPMed,gnomAD
rs1483986069	p.Glu566Lys	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243415781G>A	gnomAD
rs750647231	p.Leu567Val	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243415784C>G	ExAC,TOPMed,gnomAD
rs751089162	p.Thr568Ile	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243415788C>T	ExAC,gnomAD
rs780789700	p.Gln569Ter	stop gained	-	CHR_HSCHR1_3_CTG32_1:g.243415790C>T	ExAC,gnomAD
rs752412976	p.Gln569Arg	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243415791A>G	ExAC,gnomAD
rs1448626324	p.Lys570Arg	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243415794A>G	gnomAD
rs1176784180	p.Ile571Leu	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243415796A>T	gnomAD
rs1363663426	p.Gln572Arg	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243415800A>G	TOPMed
rs1286714661	p.Gln573Ter	stop gained	-	CHR_HSCHR1_3_CTG32_1:g.243415802C>T	TOPMed
rs1381319822	p.Gln573Pro	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243415803A>C	gnomAD
rs756420930	p.Met574Ile	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243415807G>A	ExAC,TOPMed,gnomAD
rs771493123	p.Gln577Pro	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243415815A>C	ExAC,TOPMed,gnomAD
rs749719225	p.Gln577Glu	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243415814C>G	ExAC,gnomAD
rs745915721	p.Asp579Val	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243415821A>T	ExAC,gnomAD
rs772347866	p.Lys580Glu	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243415823A>G	ExAC,TOPMed
rs772347866	p.Lys580Gln	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243415823A>C	ExAC,TOPMed
rs757605519	p.Glu584Ala	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243417974A>C	ExAC,gnomAD
rs150961792	p.Glu584Lys	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243417973G>A	ESP,ExAC,TOPMed,gnomAD
rs542690685	p.Tyr586Asn	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243417979T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1195615970	p.Tyr586Cys	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243417980A>G	TOPMed
rs780281311	p.Thr590Ala	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243417991A>G	ExAC,TOPMed,gnomAD
rs1444038152	p.Gln592Lys	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243417997C>A	TOPMed
rs768941321	p.Thr594Ala	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243418003A>G	ExAC,gnomAD
rs776765317	p.Phe595Val	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243418006T>G	ExAC,gnomAD
rs372641187	p.Thr597Lys	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243418013C>A	ESP,ExAC
rs1411144910	p.Leu599Phe	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243418020A>C	gnomAD
rs1199896922	p.Glu601Asp	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243418026A>C	TOPMed
rs770778500	p.Glu602Lys	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243418027G>A	ExAC,TOPMed,gnomAD
rs774257632	p.Cys603Phe	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243418031G>T	ExAC,gnomAD
rs759482577	p.Cys604Tyr	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243418034G>A	ExAC,gnomAD
rs766975053	p.Thr605Ile	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243418037C>T	ExAC,gnomAD
rs760154232	p.Lys608Arg	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243418046A>G	ExAC,TOPMed,gnomAD
rs1285146744	p.Leu610Pro	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243418052T>C	TOPMed
rs757630709	p.Gln612Lys	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243418057C>A	ExAC,gnomAD
rs528435621	p.Thr617Asn	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243418073C>A	1000Genomes
rs145896729	p.Ser619Tyr	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426429C>A	ESP,ExAC,TOPMed,gnomAD
rs1397205149	p.Glu620Gly	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426432A>G	TOPMed
rs760231013	p.Ala622Val	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426438C>T	ExAC,TOPMed,gnomAD
rs768111847	p.Gln623Arg	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426441A>G	ExAC,gnomAD
rs776293737	p.Gln626Lys	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426449C>A	ExAC,gnomAD
rs1410019812	p.Glu627Val	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426453A>T	gnomAD
rs548855151	p.Arg629Met	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426459G>T	1000Genomes,ExAC,gnomAD
rs765653727	p.Arg629Ser	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426460G>T	ExAC,TOPMed,gnomAD
rs548855151	p.Arg629Thr	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426459G>C	1000Genomes,ExAC,gnomAD
rs138187640	p.Tyr630His	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426461T>C	ESP,ExAC,TOPMed,gnomAD
rs565662622	p.Thr631Ile	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426465C>T	1000Genomes,ExAC,gnomAD
rs1330860751	p.Asp633Gly	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426471A>G	gnomAD
rs1333905735	p.Lys634Glu	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426473A>G	gnomAD
rs752896885	p.Leu638Ser	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426486T>C	ExAC,TOPMed,gnomAD
rs1012914757	p.Asn642Asp	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426497A>G	gnomAD
rs1441286815	p.Glu644Gly	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426504A>G	gnomAD
rs181033600	p.Leu645Met	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426506T>A	1000Genomes
rs185944691	p.Leu645Phe	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426508G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1222947634	p.Glu647Lys	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426512G>A	gnomAD
rs1289275011	p.Glu647Val	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426513A>T	gnomAD
rs367572249	p.Gln648Ter	stop gained	-	CHR_HSCHR1_3_CTG32_1:g.243426515C>T	ESP,ExAC,TOPMed,gnomAD
rs371805116	p.Cys649Arg	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426518T>C	ESP,ExAC,TOPMed,gnomAD
rs746505992	p.His652Arg	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426528A>G	ExAC,TOPMed,gnomAD
rs1452709438	p.Gly653Glu	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426531G>A	gnomAD
rs1479850463	p.Arg654Ser	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426535A>C	gnomAD
rs1267378140	p.Arg654Gly	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426533A>G	gnomAD
rs776040834	p.Val655Ile	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426536G>A	ExAC,TOPMed,gnomAD
rs1415587153	p.Val655Glu	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426537T>A	TOPMed
rs761503701	p.His656Arg	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426540A>G	ExAC,TOPMed,gnomAD
rs1262692904	p.His656Tyr	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426539C>T	TOPMed,gnomAD
rs1262692904	p.His656Asn	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426539C>A	TOPMed,gnomAD
rs761503701	p.His656Leu	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426540A>T	ExAC,TOPMed,gnomAD
rs1157794544	p.Glu657Ala	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426543A>C	gnomAD
rs773035864	p.Glu657Lys	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426542G>A	ExAC,gnomAD
rs1057515530	p.Thr658Met	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426546C>T	TOPMed,gnomAD
rs375244541	p.Met659Thr	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426549T>C	ESP,ExAC,gnomAD
rs537214737	p.Met659Val	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426548A>G	1000Genomes,ExAC,gnomAD
rs141230462	p.Lys660Gln	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426551A>C	ESP,TOPMed
rs751286389	p.Leu663Ile	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243489015C>A	ExAC,gnomAD
rs1446535595	p.Lys668Glu	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243489030A>G	TOPMed
rs1336926482	p.His669Gln	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243489035C>G	TOPMed,gnomAD
rs1326176310	p.Ala672Thr	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243489042G>A	TOPMed
rs1256449972	p.Ala674Val	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243489049C>T	gnomAD
rs748157088	p.Gln675Arg	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243489052A>G	ExAC,gnomAD
rs1242245359	p.Gln676Glu	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243489054C>G	TOPMed,gnomAD
rs755629522	p.Val678Met	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243489060G>A	ExAC,TOPMed,gnomAD
rs755629522	p.Val678Leu	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243489060G>T	ExAC,TOPMed,gnomAD
rs1365519418	p.Asn685Thr	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243489082A>C	TOPMed
rs1334951618	p.Arg691Lys	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243489100G>A	gnomAD
rs770511642	p.Gln692Ter	stop gained	-	CHR_HSCHR1_3_CTG32_1:g.243489102C>T	ExAC,gnomAD
rs1367234572	p.Gln692Arg	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243489103A>G	TOPMed,gnomAD
rs1205844381	p.Ser693Asn	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243489106G>A	TOPMed
rs774092854	p.Leu694Pro	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243489109T>C	ExAC,TOPMed,gnomAD
rs746212924	p.Ser695Trp	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243489112C>G	ExAC,TOPMed,gnomAD
rs978082572	p.Glu697Asp	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243489119G>T	gnomAD
rs761172746	p.Arg700Pro	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243489127G>C	ExAC,TOPMed,gnomAD
rs369591883	p.Arg700Trp	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243489126C>T	ESP,ExAC,TOPMed,gnomAD
rs761172746	p.Arg700Gln	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243489127G>A	ExAC,TOPMed,gnomAD
rs182859748	p.Arg702Trp	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243489132C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs368583241	p.Thr703Ile	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243489136C>T	ESP,ExAC,gnomAD
rs778488043	p.Met708Val	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243499765A>G	ExAC,gnomAD
rs1489827909	p.Pro709Leu	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243499769C>T	gnomAD
rs750000450	p.Gln710Ter	stop gained	-	CHR_HSCHR1_3_CTG32_1:g.243499771C>T	ExAC,gnomAD
rs1474766803	p.SerAspCys711SerAspTerLeuUnk	stop gained	-	CHR_HSCHR1_3_CTG32_1:g.243499781_243499782insATTG	gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0004096	Asthma	disease	HPO
C0005424	Biliary Tract Diseases	group	HPO
C0005586	Bipolar Disorder	disease	GWASCAT
C0006271	Bronchiolitis	disease	HPO
C0007102	Malignant tumor of colon	disease	BEFREE
C0007758	Cerebellar Ataxia	phenotype	HPO
C0009240	Cognition	phenotype	GWASCAT
C0011849	Diabetes Mellitus	group	HPO
C0013404	Dyspnea	phenotype	HPO
C0019572	Hirsutism	phenotype	HPO
C0020538	Hypertensive disease	group	HPO
C0020608	Hypodontia	disease	HPO
C0020619	Hypogonadism	disease	HPO
C0022661	Kidney Failure, Chronic	disease	BEFREE
C0022679	Cystic kidney	disease	CTD_human;HPO
C0023012	Language Delay	phenotype	HPO
C0025322	Premature Menopause	phenotype	HPO
C0025362	Mental Retardation	disease	HPO
C0028738	Nystagmus	disease	HPO
C0028754	Obesity	disease	BEFREE;GWASCAT;GWASDB;HPO
C0035078	Kidney Failure	disease	HPO
C0035304	Retinal Degeneration	phenotype	HPO
C0035309	Retinal Diseases	group	CTD_human
C0035334	Retinitis Pigmentosa	disease	HPO
C0036337	Schizoaffective Disorder	disease	GWASCAT
C0036341	Schizophrenia	disease	BEFREE;GWASCAT;GWASDB;PSYGENET
C0037822	Speech Disorders	group	HPO
C0038379	Strabismus	disease	HPO
C0039075	Syndactyly	disease	HPO
C0040433	Tooth Crowding	phenotype	HPO
C0042798	Low Vision	disease	HPO
C0149721	Left Ventricular Hypertrophy	disease	HPO
C0152427	Polydactyly	disease	GENOMICS_ENGLAND
C0158734	Polydactyly of toes	disease	HPO
C0162283	Nephrogenic Diabetes Insipidus	disease	HPO
C0201976	Creatinine measurement, serum (procedure)	phenotype	GWASCAT
C0202117	Low density lipoprotein cholesterol measurement	phenotype	GWASDB
C0221357	Brachydactyly	disease	HPO
C0233715	Speech impairment	phenotype	HPO
C0239946	Fibrosis, Liver	disease	HPO
C0241210	Speech Delay	phenotype	HPO
C0241355	Small testicle	phenotype	HPO
C0266435	Congenital hypoplasia of penis	disease	HPO
C0338656	Impaired cognition	disease	HPO
C0349588	Short stature	phenotype	HPO
C0403553	Renal dysplasia and retinal aplasia (disorder)	disease	BEFREE;ORPHANET
C0423903	Low intelligence	phenotype	HPO
C0428883	Diastolic blood pressure	phenotype	GWASCAT
C0431904	Ulnar polydactyly of fingers	disease	HPO
C0454644	Delayed speech and language development	phenotype	HPO
C0476273	Respiratory distress	phenotype	HPO
C0476397	Electroretinogram abnormal	phenotype	HPO
C0497247	Increase in blood pressure	phenotype	HPO
C0497406	Overweight	phenotype	BEFREE
C0542519	Congenital absence of kidney	disease	HPO
C0549613	Biliary tract abnormality	phenotype	HPO
C0557874	Global developmental delay	disease	HPO
C0563243	Poor coordination	phenotype	HPO
C0683322	Mental impairment	disease	HPO
C0685840	Congenital hypoplasia of ovary	disease	HPO
C0687120	Nephronophthisis	disease	HPO
C0699790	Colon Carcinoma	disease	BEFREE
C0747085	Recurrent otitis media	disease	HPO
C0752166	Bardet-Biedl Syndrome	disease	BEFREE;CLINVAR;ORPHANET
C0854723	Retinal Dystrophies	group	HPO
C0917816	Mental deficiency	disease	HPO
C1317785	Tooth size discrepancy	phenotype	HPO
C1445957	Serum total cholesterol measurement	phenotype	GWASDB
C1561549	Glomerular filtration rate finding	phenotype	GWASCAT
C1565489	Renal Insufficiency	disease	HPO
C1619700	RENAL ADYSPLASIA	disease	HPO
C1691228	Cystic Kidney Diseases	group	CTD_human;GENOMICS_ENGLAND
C1720508	Retinal pigment epithelial abnormality	phenotype	HPO
C1835452	Hypoplastic ovary	phenotype	HPO
C1836150	Gait imbalance	phenotype	HPO
C1836189	Radial deviation of finger	phenotype	HPO
C1837404	High, narrow palate	phenotype	HPO
C1839364	Progressive visual loss	phenotype	HPO
C1839604	Renal failure in adulthood	phenotype	HPO
C1843367	Poor school performance	phenotype	HPO
C1848673	Hypoplastic feet	phenotype	HPO
C1855333	External genital hypoplasia	phenotype	HPO
C1862475	Abnormality of retinal pigmentation	phenotype	HPO
C1864897	Cognitive delay	phenotype	HPO
C1866241	Broad foot	phenotype	HPO
C2316810	Chronic kidney disease stage 5	disease	BEFREE;HPO
C2936862	Bardet-Biedl syndrome 1 (disorder)	disease	CTD_human
C3150877	SENIOR-LOKEN SYNDROME 7	disease	CLINVAR
C3277697	Decreased visual acuity, progressive	phenotype	HPO
C3536714	Renal dysplasia	disease	HPO
C3665347	Visual Impairment	phenotype	HPO
C3714497	Reactive airway disease	disease	HPO
C3714581	Multicystic Dysplastic Kidney	disease	HPO
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND;HPO
C3806482	Recurrent respiratory infections	phenotype	HPO
C3887499	Renal cyst	phenotype	BEFREE;HPO
C3889474	BARDET-BIEDL SYNDROME 16	disease	CLINVAR;CTD_human
C4020875	Mental and motor retardation	phenotype	HPO
C4020876	Dull intelligence	phenotype	HPO
C4025790	Specific learning disability	disease	HPO
C4277690	Ciliopathies	group	BEFREE;GENOMICS_ENGLAND
C4280617	Tooth mass arch size discrepancy	phenotype	HPO
C4280618	Inadequate arch length for tooth size	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005515	protein binding	IPI

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000086	G2/M transition of mitotic cell cycle	TAS
GO:0001764	neuron migration	IBA
GO:0007098	centrosome cycle	IEA
GO:0010389	regulation of G2/M transition of mitotic cell cycle	TAS
GO:0030010	establishment of cell polarity	ISS
GO:0030010	establishment of cell polarity	IBA
GO:0031023	microtubule organizing center organization	IBA
GO:0035148	tube formation	ISS
GO:0035148	tube formation	IBA
GO:0097711	ciliary basal body-plasma membrane docking	TAS
GO:1902017	regulation of cilium assembly	IMP

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005813	centrosome	IDA
GO:0005813	centrosome	IBA
GO:0005814	centriole	IDA
GO:0005814	centriole	IBA
GO:0005829	cytosol	TAS
GO:0005911	cell-cell junction	IDA
GO:0034451	centriolar satellite	IEA
GO:0036064	ciliary basal body	IEA
GO:0097733	photoreceptor cell cilium	IEA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1640170	Cell Cycle	TAS
R-HSA-1852241	Organelle biogenesis and maintenance	TAS
R-HSA-2565942	Regulation of PLK1 Activity at G2/M Transition	TAS
R-HSA-380259	Loss of Nlp from mitotic centrosomes	TAS
R-HSA-380270	Recruitment of mitotic centrosome proteins and complexes	TAS
R-HSA-380284	Loss of proteins required for interphase microtubule organization from the centrosome	TAS
R-HSA-380287	Centrosome maturation	TAS
R-HSA-380320	Recruitment of NuMA to mitotic centrosomes	TAS
R-HSA-453274	Mitotic G2-G2/M phases	TAS
R-HSA-5617833	Cilium Assembly	TAS
R-HSA-5620912	Anchoring of the basal body to the plasma membrane	TAS
R-HSA-68877	Mitotic Prometaphase	TAS
R-HSA-68886	M Phase	TAS
R-HSA-69275	G2/M Transition	TAS
R-HSA-69278	Cell Cycle, Mitotic	TAS
R-HSA-8854518	AURKA Activation by TPX2	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
D015655	1-Methyl-4-phenylpyridinium	1-Methyl-4-phenylpyridinium results in increased expression of SDCCAG8 mRNA	28801915
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in decreased expression of SDCCAG8 mRNA	18648102
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 increased expression of SDCCAG8 mRNA	27188386
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of SDCCAG8 mRNA	16483693
D001280	Atrazine	Atrazine results in increased expression of SDCCAG8 mRNA	25929836
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of SDCCAG8 mRNA	20064835
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of SDCCAG8 mRNA	19770486
C006780	bisphenol A	bisphenol A results in increased expression of SDCCAG8 mRNA	25181051
D002220	Carbamazepine	Carbamazepine affects the expression of SDCCAG8 mRNA	25979313
D002273	Carcinogens	Carcinogens results in decreased expression of SDCCAG8 mRNA	22269147
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of SDCCAG8 gene	20938992
D003300	Copper	[NSC 689534 binds to Copper] which results in decreased expression of SDCCAG8 mRNA	20971185
D019327	Copper Sulfate	Copper Sulfate results in decreased expression of SDCCAG8 mRNA	19549813
D016572	Cyclosporine	Cyclosporine results in decreased expression of SDCCAG8 mRNA	19770486
D013196	Dihydrotestosterone	Dihydrotestosterone results in increased expression of SDCCAG8 mRNA	29458080
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 increased expression of SDCCAG8 mRNA	27188386
D004958	Estradiol	Estradiol affects the expression of SDCCAG8 mRNA	22574217
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of SDCCAG8 mRNA	23129252
D005472	Fluorouracil	Fluorouracil results in increased expression of SDCCAG8 mRNA	16510598
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of SDCCAG8 gene	20938992
D007213	Indomethacin	Indomethacin results in decreased expression of SDCCAG8 mRNA	28201806
D015759	Ionomycin	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in decreased expression of SDCCAG8 mRNA	25613284
C008261	lead acetate	lead acetate results in increased expression of SDCCAG8 mRNA	20542052
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of SDCCAG8 gene	20938992
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of SDCCAG8 mRNA	28001369
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in increased expression of SDCCAG8 mRNA	23649840
D015741	Metribolone	Metribolone results in increased expression of SDCCAG8 mRNA	17010196
D009153	Mutagens	Mutagens results in decreased expression of SDCCAG8 mRNA	22269147
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of SDCCAG8 mRNA	25554681
C558013	NSC 689534	[NSC 689534 binds to Copper] which results in decreased expression of SDCCAG8 mRNA	20971185
C006253	pirinixic acid	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of SDCCAG8 mRNA	19710929
C006253	pirinixic acid	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of SDCCAG8 mRNA	19710929
D010936	Plant Extracts	Plant Extracts results in increased expression of SDCCAG8 mRNA	23557933
D012643	Selenium	[Selenium co-treated with Vitamin E] results in decreased expression of SDCCAG8 mRNA	19244175
D012643	Selenium	Selenium results in decreased expression of SDCCAG8 mRNA	19244175
C017947	sodium arsenite	sodium arsenite results in decreased expression of SDCCAG8 mRNA	28595984
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of SDCCAG8 mRNA	24680724
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin promotes the reaction [AHR protein binds to SDCCAG8 promoter]	19654925
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of SDCCAG8 mRNA	21354282
D013755	Tetradecanoylphorbol Acetate	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in decreased expression of SDCCAG8 mRNA	25613284
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in increased methylation of SDCCAG8 intron	31039056
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution affects the expression of SDCCAG8 mRNA	20133372
C012589	trichostatin A	trichostatin A results in increased expression of SDCCAG8 mRNA	24935251
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in increased expression of SDCCAG8 mRNA	26179874
D014415	Tunicamycin	Tunicamycin results in increased expression of SDCCAG8 mRNA	22378314
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 increased expression of SDCCAG8 mRNA	27188386
D014635	Valproic Acid	Valproic Acid affects the expression of SDCCAG8 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased methylation of SDCCAG8 gene	29154799
D014635	Valproic Acid	Valproic Acid results in increased expression of SDCCAG8 mRNA	23179753; 24383497; 24935251; 26272509; 28001369;
C034028	vanadyl sulfate	vanadyl sulfate results in decreased expression of SDCCAG8 mRNA	16330358
D014810	Vitamin E	[Selenium co-treated with Vitamin E] results in decreased expression of SDCCAG8 mRNA	19244175
D014810	Vitamin E	Vitamin E results in decreased expression of SDCCAG8 mRNA	19244175
D000077337	Vorinostat	Vorinostat results in increased expression of SDCCAG8 mRNA	27188386

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-0083	Bardet-Biedl syndrome
KW-0965	Cell junction
KW-0966	Cell projection
KW-1186	Ciliopathy
KW-0970	Cilium biogenesis/degradation
KW-0175	Coiled coil
KW-0963	Cytoplasm
KW-0206	Cytoskeleton
KW-0901	Leber congenital amaurosis
KW-0983	Nephronophthisis
KW-0550	Obesity
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0980	Senior-Loken syndrome

Interpro

InterPro ID	InterPro Term
IPR031887	SDCCAG8

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term
PF15964	CCCAP

Gene: SDCCAG8

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

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction