CleftGeneDB-Search

Gene: PKP1

Basic information

Tag	Content
Uniprot ID	Q13835; O00645; Q14CA0; Q15152;
Entrez ID	5317
Genbank protein ID	CAA55881.1; CAA98022.1; AAI14572.1; EAW91350.1; CAA84426.1;
Genbank nucleotide ID	NM_001005337.2; NM_000299.3;
Ensembl protein ID	ENSP00000356293; ENSP00000295597; ENSP00000263946;
Ensembl nucleotide ID	ENSG00000081277
Gene name	Plakophilin-1
Gene symbol	PKP1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	26449438
Functional description	Seems to play a role in junctional plaques. Contributes to epidermal morphogenesis.
Sequence	MNHSPLKTAL AYECFQDQDN STLALPSDQK MKTGTSGRQR VQEQVMMTVK RQKSKSSQSS 60 TLSHSNRGSM YDGLADNYNY GTTSRSSYYS KFQAGNGSWG YPIYNGTLKR EPDNRRFSSY 120 SQMENWSRHY PRGSCNTTGA GSDICFMQKI KASRSEPDLY CDPRGTLRKG TLGSKGQKTT 180 QNRYSFYSTC SGQKAIKKCP VRPPSCASKQ DPVYIPPISC NKDLSFGHSR ASSKICSEDI 240 ECSGLTIPKA VQYLSSQDEK YQAIGAYYIQ HTCFQDESAK QQVYQLGGIC KLVDLLRSPN 300 QNVQQAAAGA LRNLVFRSTT NKLETRRQNG IREAVSLLRR TGNAEIQKQL TGLLWNLSST 360 DELKEELIAD ALPVLADRVI IPFSGWCDGN SNMSREVVDP EVFFNATGCL RKRLGMRELL 420 ALVPQRATSS RVNLSSADAG RQTMRNYSGL IDSLMAYVQN CVAASRCDDK SVENCMCVLH 480 NLSYRLDAEV PTRYRQLEYN ARNAYTEKSS TGCFSNKSDK MMNNNYDCPL PEEETNPKGS 540 GWLYHSDAIR TYLNLMGKSK KDATLEACAG ALQNLTASKG LMSSGMSQLI GLKEKGLPQI 600 ARLLQSGNSD VVRSGASLLS NMSRHPLLHR VMGNQVFPEV TRLLTSHTGN TSNSEDILSS 660 ACYTVRNLMA SQPQLAKQYF SSSMLNNIIN LCRSSASPKA AEAARLLLSD MWSSKELQGV 720 LRQQGFDRNM LGTLAGANSL RNFTSRF 747

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

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
1XM9

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Species	Evidence	Details
1:1 ortholog	PKP1		A0A452FUQ9	Capra hircus	Prediction	More>>
1:1 ortholog	PKP1	5317	Q13835	Homo sapiens	Publication	More>>
1:1 ortholog	Pkp1	18772	P97350	Mus musculus	Prediction	More>>
1:1 ortholog	PKP1		A0A2J8KHS3	Pan troglodytes	Prediction	More>>
1:1 ortholog	PKP1		I3LGN8	Sus scrofa	Prediction	More>>
1:1 ortholog	Pkp1	304822	D3ZY51	Rattus norvegicus	Prediction	More>>
1:1 ortholog	pkp1b	797838	E7FBR0	Danio rerio	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
PKP1	c.899A>C; p.N300T	WES and Sanger sequencing	26449438

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1249234066	p.Asn2Ser	missense variant	-	NC_000001.11:g.201283707A>G	gnomAD
rs1475958808	p.Ser4Leu	missense variant	-	NC_000001.11:g.201283713C>T	TOPMed,gnomAD
rs1475958808	p.Ser4Trp	missense variant	-	NC_000001.11:g.201283713C>G	TOPMed,gnomAD
rs1189119963	p.Pro5Ser	missense variant	-	NC_000001.11:g.201283715C>T	NCI-TCGA
rs1417514113	p.Pro5Leu	missense variant	-	NC_000001.11:g.201283716C>T	gnomAD
rs1417514113	p.Pro5Leu	missense variant	-	NC_000001.11:g.201283716C>T	NCI-TCGA
rs1189119963	p.Pro5Ser	missense variant	-	NC_000001.11:g.201283715C>T	gnomAD
rs986378706	p.Ala11Ser	missense variant	-	NC_000001.11:g.201283733G>T	TOPMed,gnomAD
rs910380119	p.Ala11Val	missense variant	-	NC_000001.11:g.201283734C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Glu13Lys	missense variant	-	NC_000001.11:g.201283739G>A	NCI-TCGA
COSM4026907	p.Cys14Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.201283742T>C	NCI-TCGA Cosmic
rs765686962	p.Phe15Val	missense variant	-	NC_000001.11:g.201283745T>G	ExAC,gnomAD
rs1339584228	p.Asp17Asn	missense variant	-	NC_000001.11:g.201283751G>A	gnomAD
rs1339972669	p.Asp19Gly	missense variant	-	NC_000001.11:g.201283758A>G	gnomAD
rs1271921485	p.Asp19Asn	missense variant	-	NC_000001.11:g.201283757G>A	gnomAD
rs199604952	p.Asn20Ser	missense variant	-	NC_000001.11:g.201283761A>G	ExAC,TOPMed,gnomAD
rs1201125089	p.Leu23Ser	missense variant	-	NC_000001.11:g.201283770T>C	gnomAD
rs1486454180	p.Ala24Ser	missense variant	-	NC_000001.11:g.201283772G>T	gnomAD
rs1211069504	p.Leu25Trp	missense variant	-	NC_000001.11:g.201283776T>G	gnomAD
NCI-TCGA novel	p.Leu25Ser	missense variant	-	NC_000001.11:g.201283776T>C	NCI-TCGA
rs377481646	p.Pro26Leu	missense variant	-	NC_000001.11:g.201283779C>T	ESP,ExAC,TOPMed,gnomAD
rs1195751281	p.Asp28Asn	missense variant	-	NC_000001.11:g.201283784G>A	gnomAD
rs751815067	p.Asp28Glu	missense variant	-	NC_000001.11:g.201283786C>A	ExAC,gnomAD
rs975952428	p.Gln29Arg	missense variant	-	NC_000001.11:g.201283788A>G	TOPMed
rs1475350964	p.Gln29Ter	stop gained	-	NC_000001.11:g.201283787C>T	gnomAD
rs757475801	p.Lys30Thr	missense variant	-	NC_000001.11:g.201283791A>C	ExAC,gnomAD
rs1322769789	p.Lys30Asn	missense variant	-	NC_000001.11:g.201283792G>T	TOPMed
rs370900946	p.Met31Val	missense variant	-	NC_000001.11:g.201283793A>G	ESP,ExAC,TOPMed,gnomAD
rs1435578626	p.Thr33Ile	missense variant	-	NC_000001.11:g.201283800C>T	gnomAD
NCI-TCGA novel	p.Thr33Ala	missense variant	-	NC_000001.11:g.201283799A>G	NCI-TCGA
rs749292645	p.Gly34Val	missense variant	-	NC_000001.11:g.201283803G>T	ExAC
rs780267593	p.Thr35Met	missense variant	-	NC_000001.11:g.201283806C>T	TOPMed,gnomAD
rs1400323054	p.Gly37Arg	missense variant	-	NC_000001.11:g.201283811G>C	gnomAD
rs1320012247	p.Arg38Lys	missense variant	-	NC_000001.11:g.201283815G>A	gnomAD
rs754822585	p.Arg38Gly	missense variant	-	NC_000001.11:g.201283814A>G	ExAC,gnomAD
rs375084708	p.Arg38Ser	missense variant	-	NC_000001.11:g.201283816G>T	ESP,ExAC,TOPMed,gnomAD
rs747869491	p.Gln39Glu	missense variant	-	NC_000001.11:g.201283817C>G	ExAC,gnomAD
rs1390932890	p.Glu43Lys	missense variant	-	NC_000001.11:g.201283829G>A	TOPMed
rs369806569	p.Met46Leu	missense variant	-	NC_000001.11:g.201283838A>T	ExAC,TOPMed,gnomAD
rs369806569	p.Met46Val	missense variant	-	NC_000001.11:g.201283838A>G	ExAC,TOPMed,gnomAD
RCV000266980	p.Met46Leu	missense variant	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201283838A>T	ClinVar
rs1482053129	p.Met47Val	missense variant	-	NC_000001.11:g.201283841A>G	gnomAD
rs181972441	p.Arg51Trp	missense variant	-	NC_000001.11:g.201283853C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs200433412	p.Gln52Lys	missense variant	-	NC_000001.11:g.201283856C>A	ESP,ExAC,TOPMed,gnomAD
rs1397427322	p.Gln52His	missense variant	-	NC_000001.11:g.201283858G>T	TOPMed,gnomAD
rs1187154159	p.Gln52Arg	missense variant	-	NC_000001.11:g.201283857A>G	gnomAD
rs1422306414	p.Lys53Glu	missense variant	-	NC_000001.11:g.201283859A>G	TOPMed
rs199797410	p.Lys53Arg	missense variant	-	NC_000001.11:g.201283860A>G	1000Genomes,ExAC
rs765625993	p.Ser54Cys	missense variant	-	NC_000001.11:g.201283863C>G	ExAC,gnomAD
NCI-TCGA novel	p.Lys55Arg	missense variant	-	NC_000001.11:g.201283866A>G	NCI-TCGA
rs776004636	p.Ser56Cys	missense variant	-	NC_000001.11:g.201283869C>G	ExAC,gnomAD
rs1376177104	p.Ser57Pro	missense variant	-	NC_000001.11:g.201283871T>C	gnomAD
rs560818766	p.Gln58His	missense variant	-	NC_000001.11:g.201283876G>T	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Ser59Leu	missense variant	-	NC_000001.11:g.201283878C>T	NCI-TCGA
rs751867536	p.Ser60Phe	missense variant	-	NC_000001.11:g.201283881C>T	ExAC,gnomAD
rs764546449	p.Ser60Pro	missense variant	-	NC_000001.11:g.201283880T>C	ExAC,gnomAD
rs1441056275	p.Ser63Arg	missense variant	-	NC_000001.11:g.201283891C>A	gnomAD
rs1310097346	p.His64Arg	missense variant	-	NC_000001.11:g.201283893A>G	gnomAD
rs529709320	p.His64Tyr	missense variant	-	NC_000001.11:g.201283892C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1261682384	p.Asn66Ser	missense variant	-	NC_000001.11:g.201283899A>G	TOPMed,gnomAD
COSM4026911	p.Arg67Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.201283902G>A	NCI-TCGA Cosmic
rs748066233	p.Gly68Ser	missense variant	-	NC_000001.11:g.201283904G>A	ExAC,gnomAD
rs1407567667	p.Gly68Asp	missense variant	-	NC_000001.11:g.201293942G>A	TOPMed,gnomAD
rs777570553	p.Met70Val	missense variant	-	NC_000001.11:g.201293947A>G	ExAC,TOPMed,gnomAD
rs751318467	p.Tyr71Cys	missense variant	-	NC_000001.11:g.201293951A>G	ExAC,TOPMed,gnomAD
rs751318467	p.Tyr71Phe	missense variant	-	NC_000001.11:g.201293951A>T	ExAC,TOPMed,gnomAD
rs1228107718	p.Asp72Glu	missense variant	-	NC_000001.11:g.201293955T>A	gnomAD
rs780653634	p.Ala75Ser	missense variant	-	NC_000001.11:g.201293962G>T	ExAC,gnomAD
rs1205339613	p.Ala75Val	missense variant	-	NC_000001.11:g.201293963C>T	TOPMed,gnomAD
rs1388581264	p.Asp76Gly	missense variant	-	NC_000001.11:g.201293966A>G	TOPMed
rs150847034	p.Asn77Ser	missense variant	-	NC_000001.11:g.201293969A>G	ESP,ExAC,gnomAD
rs1258471543	p.Asn79His	missense variant	-	NC_000001.11:g.201293974A>C	gnomAD
RCV000326818	p.Gly81Arg	missense variant	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201293980G>A	ClinVar
rs769244881	p.Gly81Glu	missense variant	-	NC_000001.11:g.201293981G>A	ExAC,TOPMed,gnomAD
rs147328328	p.Gly81Arg	missense variant	-	NC_000001.11:g.201293980G>A	ESP,ExAC,TOPMed,gnomAD
rs774859542	p.Thr82Asn	missense variant	-	NC_000001.11:g.201293984C>A	ExAC,gnomAD
rs1055003862	p.Thr82Ala	missense variant	-	NC_000001.11:g.201293983A>G	gnomAD
rs762024333	p.Ser84Arg	missense variant	-	NC_000001.11:g.201293991C>G	ExAC,gnomAD
NCI-TCGA novel	p.Arg85Ser	missense variant	-	NC_000001.11:g.201293994G>T	NCI-TCGA
rs1413079616	p.Arg85Lys	missense variant	-	NC_000001.11:g.201293993G>A	TOPMed
rs894879135	p.Ser87Asn	missense variant	-	NC_000001.11:g.201293999G>A	gnomAD
RCV000362830	p.Tyr88Cys	missense variant	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201294002A>G	ClinVar
rs141060367	p.Tyr88Cys	missense variant	-	NC_000001.11:g.201294002A>G	ESP,ExAC,TOPMed,gnomAD
rs760921095	p.Tyr88Ter	stop gained	-	NC_000001.11:g.201294003C>G	ExAC,gnomAD
rs1364739266	p.Tyr89Phe	missense variant	-	NC_000001.11:g.201294005A>T	gnomAD
rs146997188	p.Lys91Arg	missense variant	-	NC_000001.11:g.201294011A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs571591332	p.Phe92Ile	missense variant	-	NC_000001.11:g.201294013T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1236580317	p.Gly97Ser	missense variant	-	NC_000001.11:g.201294028G>A	gnomAD
rs762914218	p.Gly97Asp	missense variant	-	NC_000001.11:g.201294029G>A	ExAC,TOPMed,gnomAD
rs762914218	p.Gly97Ala	missense variant	-	NC_000001.11:g.201294029G>C	ExAC,TOPMed,gnomAD
rs1209186439	p.Ser98Leu	missense variant	-	NC_000001.11:g.201294032C>T	gnomAD
rs767309700	p.Trp99Cys	missense variant	-	NC_000001.11:g.201294036G>C	ExAC,TOPMed,gnomAD
rs750089705	p.Gly100Arg	missense variant	-	NC_000001.11:g.201294037G>A	ExAC,gnomAD
rs1247343030	p.Gly100Val	missense variant	-	NC_000001.11:g.201294038G>T	gnomAD
rs1447182660	p.Tyr101His	missense variant	-	NC_000001.11:g.201294040T>C	gnomAD
rs367643085	p.Pro102Leu	missense variant	-	NC_000001.11:g.201294044C>T	NCI-TCGA,NCI-TCGA Cosmic
rs367643085	p.Pro102Leu	missense variant	-	NC_000001.11:g.201294044C>T	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Tyr104Cys	missense variant	-	NC_000001.11:g.201313170A>G	NCI-TCGA
rs755831958	p.Asn105Ser	missense variant	-	NC_000001.11:g.201313173A>G	ExAC,TOPMed,gnomAD
rs766071375	p.Gly106Arg	missense variant	-	NC_000001.11:g.201313175G>A	ExAC,gnomAD
rs1218704370	p.Gly106Val	missense variant	-	NC_000001.11:g.201313176G>T	gnomAD
NCI-TCGA novel	p.Gly106Ter	stop gained	-	NC_000001.11:g.201313175G>T	NCI-TCGA
NCI-TCGA novel	p.Lys109Asn	missense variant	-	NC_000001.11:g.201313186G>T	NCI-TCGA
rs754600520	p.Arg110Trp	missense variant	-	NC_000001.11:g.201313187C>T	ExAC,TOPMed,gnomAD
rs150161614	p.Arg110Gln	missense variant	-	NC_000001.11:g.201313188G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1278298829	p.Glu111Lys	missense variant	-	NC_000001.11:g.201313190G>A	TOPMed
rs567375958	p.Pro112Ser	missense variant	-	NC_000001.11:g.201313193C>T	1000Genomes,ExAC,gnomAD
rs147062963	p.Arg115Lys	missense variant	-	NC_000001.11:g.201313203G>A	ESP,TOPMed,gnomAD
rs34626929	p.Arg116His	missense variant	-	NC_000001.11:g.201313206G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000273008	p.Arg116Cys	missense variant	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201313205C>T	ClinVar
rs536458815	p.Arg116Cys	missense variant	-	NC_000001.11:g.201313205C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs536458815	p.Arg116Gly	missense variant	-	NC_000001.11:g.201313205C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs34626929	p.Arg116Leu	missense variant	-	NC_000001.11:g.201313206G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000328092	p.Arg116His	missense variant	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201313206G>A	ClinVar
COSM458315	p.Ser119Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.201313215C>G	NCI-TCGA Cosmic
rs1054931349	p.Ser121Cys	missense variant	-	NC_000001.11:g.201313220A>T	TOPMed,gnomAD
rs1409369692	p.Ser121Asn	missense variant	-	NC_000001.11:g.201313221G>A	gnomAD
rs746089095	p.Met123Ile	missense variant	-	NC_000001.11:g.201313228G>A	ExAC,TOPMed,gnomAD
rs776898540	p.Met123Leu	missense variant	-	NC_000001.11:g.201313226A>T	ExAC,gnomAD
rs769907783	p.Asn125Lys	missense variant	-	NC_000001.11:g.201313234C>G	ExAC,TOPMed,gnomAD
RCV000387306	p.Trp126Cys	missense variant	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201313237G>C	ClinVar
rs886045808	p.Trp126Ter	stop gained	-	NC_000001.11:g.201313237G>A	TOPMed,gnomAD
rs886045808	p.Trp126Cys	missense variant	-	NC_000001.11:g.201313237G>C	TOPMed,gnomAD
COSM902143	p.Ser127Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.201313238A>G	NCI-TCGA Cosmic
rs1276102421	p.Arg128Trp	missense variant	-	NC_000001.11:g.201313241C>T	TOPMed,gnomAD
rs775588543	p.Arg128Gln	missense variant	-	NC_000001.11:g.201313242G>A	ExAC,TOPMed,gnomAD
rs775588543	p.Arg128Leu	missense variant	-	NC_000001.11:g.201313242G>T	ExAC,TOPMed,gnomAD
rs369088645	p.His129Arg	missense variant	-	NC_000001.11:g.201313245A>G	ESP,ExAC,TOPMed,gnomAD
rs1249139986	p.His129Asn	missense variant	-	NC_000001.11:g.201313244C>A	gnomAD
rs570209532	p.Tyr130His	missense variant	-	NC_000001.11:g.201313247T>C	1000Genomes,gnomAD
rs371948391	p.Tyr130Cys	missense variant	-	NC_000001.11:g.201313248A>G	ESP,gnomAD
rs767417910	p.Pro131Thr	missense variant	-	NC_000001.11:g.201313250C>A	ExAC,gnomAD
rs1169732010	p.Pro131Leu	missense variant	-	NC_000001.11:g.201313251C>T	gnomAD
rs772895613	p.Arg132Trp	missense variant	-	NC_000001.11:g.201313253C>T	ExAC,TOPMed,gnomAD
rs376443293	p.Arg132Gln	missense variant	-	NC_000001.11:g.201313254G>A	ESP,ExAC,TOPMed,gnomAD
rs376443293	p.Arg132Leu	missense variant	-	NC_000001.11:g.201313254G>T	ESP,ExAC,TOPMed,gnomAD
rs538996300	p.Gly133Arg	missense variant	-	NC_000001.11:g.201313256G>C	1000Genomes,ExAC,gnomAD
rs1334506835	p.Gly133Asp	missense variant	-	NC_000001.11:g.201313257G>A	gnomAD
rs1339834507	p.Ser134Arg	missense variant	-	NC_000001.11:g.201313261C>A	gnomAD
rs1242432172	p.Cys135Ser	missense variant	-	NC_000001.11:g.201313263G>C	gnomAD
rs1299189237	p.Asn136Asp	missense variant	-	NC_000001.11:g.201313265A>G	gnomAD
rs753586154	p.Asn136Thr	missense variant	-	NC_000001.11:g.201313266A>C	ExAC,gnomAD
rs1247703903	p.Thr137Ile	missense variant	-	NC_000001.11:g.201313269C>T	gnomAD
rs764675865	p.Thr138Ile	missense variant	-	NC_000001.11:g.201313272C>T	ExAC,gnomAD
rs200423351	p.Gly139Ser	missense variant	-	NC_000001.11:g.201313274G>A	ESP,ExAC,TOPMed,gnomAD
rs200423351	p.Gly139Cys	missense variant	-	NC_000001.11:g.201313274G>T	ESP,ExAC,TOPMed,gnomAD
rs1464210981	p.Gly139Asp	missense variant	-	NC_000001.11:g.201313275G>A	TOPMed
RCV000293537	p.Ala140Thr	missense variant	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201313277G>A	ClinVar
rs77893096	p.Ala140Pro	missense variant	-	NC_000001.11:g.201313277G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs77893096	p.Ala140Ser	missense variant	-	NC_000001.11:g.201313277G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs77893096	p.Ala140Thr	missense variant	-	NC_000001.11:g.201313277G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM2212211	p.Gly141Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.201313281G>T	NCI-TCGA Cosmic
rs1196031895	p.Gly141Asp	missense variant	-	NC_000001.11:g.201313281G>A	gnomAD
rs746108244	p.Asp143Asn	missense variant	-	NC_000001.11:g.201313286G>A	ExAC,gnomAD
rs139245064	p.Ile144Met	missense variant	-	NC_000001.11:g.201313291C>G	ESP,ExAC,TOPMed,gnomAD
rs770013396	p.Ile144Leu	missense variant	-	NC_000001.11:g.201313289A>C	ExAC,TOPMed,gnomAD
rs768604582	p.Cys145Tyr	missense variant	-	NC_000001.11:g.201313293G>A	ExAC,gnomAD
rs749331370	p.Cys145Gly	missense variant	-	NC_000001.11:g.201313292T>G	ExAC,gnomAD
rs1315615003	p.Met147Val	missense variant	-	NC_000001.11:g.201313298A>G	TOPMed
rs1394053395	p.Met147Ile	missense variant	-	NC_000001.11:g.201313300G>C	gnomAD
rs1322541781	p.Gln148Lys	missense variant	-	NC_000001.11:g.201313301C>A	gnomAD
rs1322541781	p.Gln148Glu	missense variant	-	NC_000001.11:g.201313301C>G	gnomAD
rs1433748015	p.Lys149Asn	missense variant	-	NC_000001.11:g.201313306A>C	gnomAD
rs1266735745	p.Lys151Ter	stop gained	-	NC_000001.11:g.201313310A>T	TOPMed
rs149029415	p.Lys151Asn	missense variant	-	NC_000001.11:g.201313312G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs776519471	p.Ala152Val	missense variant	-	NC_000001.11:g.201313314C>T	ExAC,gnomAD
rs1255039917	p.Ser153Asn	missense variant	-	NC_000001.11:g.201313317G>A	gnomAD
rs762587116	p.Arg154His	missense variant	-	NC_000001.11:g.201313320G>A	ExAC,TOPMed,gnomAD
rs762587116	p.Arg154Leu	missense variant	-	NC_000001.11:g.201313320G>T	ExAC,TOPMed,gnomAD
rs151214763	p.Arg154Cys	missense variant	-	NC_000001.11:g.201313319C>T	ESP,ExAC,TOPMed,gnomAD
rs1186787442	p.Glu156Lys	missense variant	-	NC_000001.11:g.201313325G>A	gnomAD
rs1433993818	p.Pro157Ser	missense variant	-	NC_000001.11:g.201313328C>T	gnomAD
rs764983461	p.Asp158Tyr	missense variant	-	NC_000001.11:g.201313331G>T	ExAC,TOPMed,gnomAD
rs1464389205	p.Asp158Gly	missense variant	-	NC_000001.11:g.201313332A>G	gnomAD
rs764983461	p.Asp158Asn	missense variant	-	NC_000001.11:g.201313331G>A	ExAC,TOPMed,gnomAD
rs367893541	p.Leu159Ile	missense variant	-	NC_000001.11:g.201313334C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Tyr160Ter	stop gained	-	NC_000001.11:g.201313339C>A	NCI-TCGA
rs1456581726	p.Tyr160Cys	missense variant	-	NC_000001.11:g.201313338A>G	gnomAD
rs1317977405	p.Cys161Gly	missense variant	-	NC_000001.11:g.201313340T>G	gnomAD
rs34704938	p.Cys161Phe	missense variant	-	NC_000001.11:g.201313341G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs34704938	p.Cys161Tyr	missense variant	-	NC_000001.11:g.201313341G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000332114	p.Cys161Tyr	missense variant	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201313341G>A	ClinVar
rs1366789268	p.Asp162Gly	missense variant	-	NC_000001.11:g.201313344A>G	TOPMed
rs779112141	p.Pro163Leu	missense variant	-	NC_000001.11:g.201313347C>T	ExAC,gnomAD
rs143927870	p.Arg164Gln	missense variant	-	NC_000001.11:g.201313350G>A	ESP,ExAC,TOPMed,gnomAD
rs576171894	p.Arg164Trp	missense variant	-	NC_000001.11:g.201313349C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs776572497	p.Gly165Arg	missense variant	-	NC_000001.11:g.201313352G>C	ExAC,gnomAD
rs776572497	p.Gly165Ser	missense variant	-	NC_000001.11:g.201313352G>A	ExAC,gnomAD
rs544993083	p.Gly165Asp	missense variant	-	NC_000001.11:g.201313353G>A	1000Genomes,ExAC,gnomAD
rs1207320070	p.Thr166Asn	missense variant	-	NC_000001.11:g.201313356C>A	gnomAD
rs1488884276	p.Leu167Pro	missense variant	-	NC_000001.11:g.201313359T>C	gnomAD
rs200647803	p.Arg168His	missense variant	-	NC_000001.11:g.201313362G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs527683180	p.Arg168Ser	missense variant	-	NC_000001.11:g.201313361C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs527683180	p.Arg168Cys	missense variant	-	NC_000001.11:g.201313361C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs200647803	p.Arg168Leu	missense variant	-	NC_000001.11:g.201313362G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs983984315	p.Gly170Ser	missense variant	-	NC_000001.11:g.201313367G>A	gnomAD
rs1472136920	p.Thr171Met	missense variant	-	NC_000001.11:g.201313371C>T	TOPMed,gnomAD
rs1458014783	p.Gly173Ser	missense variant	-	NC_000001.11:g.201313376G>A	gnomAD
rs932061675	p.Gly173Ala	missense variant	-	NC_000001.11:g.201313377G>C	TOPMed,gnomAD
rs932061675	p.Gly173Asp	missense variant	-	NC_000001.11:g.201313377G>A	TOPMed,gnomAD
rs1052377399	p.Ser174Asn	missense variant	-	NC_000001.11:g.201313380G>A	TOPMed,gnomAD
rs756567842	p.Lys175Arg	missense variant	-	NC_000001.11:g.201313383A>G	ExAC,gnomAD
rs750915178	p.Lys175Glu	missense variant	-	NC_000001.11:g.201313382A>G	ExAC,TOPMed,gnomAD
rs755107849	p.Gly176Asp	missense variant	-	NC_000001.11:g.201313386G>A	ExAC,gnomAD
rs754137436	p.Gly176Cys	missense variant	-	NC_000001.11:g.201313385G>T	ExAC,TOPMed,gnomAD
rs1311567348	p.Lys178Thr	missense variant	-	NC_000001.11:g.201313392A>C	gnomAD
rs1322823530	p.Thr179Ser	missense variant	-	NC_000001.11:g.201313395C>G	gnomAD
rs148156855	p.Asn182His	missense variant	-	NC_000001.11:g.201313403A>C	ExAC,TOPMed,gnomAD
rs1484139238	p.Asn182Thr	missense variant	-	NC_000001.11:g.201313404A>C	gnomAD
rs781340038	p.Arg183Leu	missense variant	-	NC_000001.11:g.201313407G>T	ExAC,TOPMed,gnomAD
rs781340038	p.Arg183His	missense variant	-	NC_000001.11:g.201313407G>A	ExAC,TOPMed,gnomAD
rs1057162135	p.Arg183Ser	missense variant	-	NC_000001.11:g.201313406C>A	TOPMed,gnomAD
rs1057162135	p.Arg183Cys	missense variant	-	NC_000001.11:g.201313406C>T	TOPMed,gnomAD
rs745792455	p.Tyr184Cys	missense variant	-	NC_000001.11:g.201313410A>G	ExAC,gnomAD
rs769672961	p.Ser185Asn	missense variant	-	NC_000001.11:g.201313413G>A	ExAC,gnomAD
rs775128783	p.Ser188Arg	missense variant	-	NC_000001.11:g.201313423C>G	ExAC,gnomAD
rs1424282636	p.Ser188Asn	missense variant	-	NC_000001.11:g.201313422G>A	gnomAD
rs1459930976	p.Cys190Phe	missense variant	-	NC_000001.11:g.201313428G>T	TOPMed,gnomAD
rs1382790039	p.Cys190Trp	missense variant	-	NC_000001.11:g.201313429C>G	gnomAD
rs1431089307	p.Gly192Ser	missense variant	-	NC_000001.11:g.201313433G>A	gnomAD
rs34769677	p.Gln193His	missense variant	-	NC_000001.11:g.201313438G>T	1000Genomes,ExAC,gnomAD
rs1408434722	p.Ala195Thr	missense variant	-	NC_000001.11:g.201313442G>A	TOPMed,gnomAD
rs35507614	p.Ile196Val	missense variant	-	NC_000001.11:g.201313445A>G	UniProt,dbSNP
VAR_033528	p.Ile196Val	missense variant	-	NC_000001.11:g.201313445A>G	UniProt
rs35507614	p.Ile196Val	missense variant	-	NC_000001.11:g.201313445A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000388950	p.Ile196Val	missense variant	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201313445A>G	ClinVar
rs767009885	p.Lys197Asn	missense variant	-	NC_000001.11:g.201313450G>C	ExAC,gnomAD
rs767009885	p.Lys197Asn	missense variant	-	NC_000001.11:g.201313450G>T	ExAC,gnomAD
rs1380539394	p.Lys197Arg	missense variant	-	NC_000001.11:g.201313449A>G	gnomAD
rs773749001	p.Lys198Thr	missense variant	-	NC_000001.11:g.201313452A>C	ExAC,gnomAD
rs1344498221	p.Cys199Arg	missense variant	-	NC_000001.11:g.201313454T>C	gnomAD
rs761063340	p.Pro200Ser	missense variant	-	NC_000001.11:g.201313457C>T	ExAC,gnomAD
RCV000278105	p.Arg202His	missense variant	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201313464G>A	ClinVar
rs78314242	p.Arg202His	missense variant	-	NC_000001.11:g.201313464G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs144063217	p.Arg202Cys	missense variant	-	NC_000001.11:g.201313463C>T	ESP,ExAC,gnomAD
rs144063217	p.Arg202Gly	missense variant	-	NC_000001.11:g.201313463C>G	ESP,ExAC,gnomAD
rs1202220475	p.Pro203Leu	missense variant	-	NC_000001.11:g.201313467C>T	TOPMed,gnomAD
rs371876880	p.Pro203Ser	missense variant	-	NC_000001.11:g.201313466C>T	ESP,TOPMed
rs1181267093	p.Ala207Val	missense variant	-	NC_000001.11:g.201313479C>T	gnomAD
rs751008697	p.Ser208Phe	missense variant	-	NC_000001.11:g.201313482C>T	TOPMed,gnomAD
rs745870553	p.Asp211Asn	missense variant	-	NC_000001.11:g.201313490G>A	ExAC
rs755962486	p.Pro212Thr	missense variant	-	NC_000001.11:g.201313493C>A	ExAC,gnomAD
rs779899110	p.Pro216Leu	missense variant	-	NC_000001.11:g.201313506C>T	ExAC,TOPMed,gnomAD
rs779899110	p.Pro216Gln	missense variant	-	NC_000001.11:g.201313506C>A	ExAC,TOPMed,gnomAD
rs1335367450	p.Ile218Val	missense variant	-	NC_000001.11:g.201313511A>G	gnomAD
rs1297579127	p.Lys222Met	missense variant	-	NC_000001.11:g.201313524A>T	TOPMed
rs1297579127	p.Lys222Arg	missense variant	-	NC_000001.11:g.201313524A>G	TOPMed
rs774055337	p.Ser225Pro	missense variant	-	NC_000001.11:g.201313532T>C	ExAC,TOPMed,gnomAD
rs747765447	p.Phe226Val	missense variant	-	NC_000001.11:g.201313535T>G	ExAC,gnomAD
rs373022722	p.Gly227Arg	missense variant	-	NC_000001.11:g.201313538G>C	ESP,ExAC,TOPMed,gnomAD
rs373022722	p.Gly227Ser	missense variant	-	NC_000001.11:g.201313538G>A	ESP,ExAC,TOPMed,gnomAD
rs1465251366	p.Ser229Cys	missense variant	-	NC_000001.11:g.201313545C>G	TOPMed
rs761277402	p.Ser229Ala	missense variant	-	NC_000001.11:g.201313544T>G	ExAC,gnomAD
rs1221095599	p.Arg230Thr	missense variant	-	NC_000001.11:g.201313548G>C	gnomAD
rs1312625224	p.Ala231Thr	missense variant	-	NC_000001.11:g.201313550G>A	gnomAD
rs1261229733	p.Ser233Phe	missense variant	-	NC_000001.11:g.201313557C>T	gnomAD
rs763269762	p.Lys234Asn	missense variant	-	NC_000001.11:g.201316553G>C	ExAC,TOPMed,gnomAD
rs1466158867	p.Lys234Arg	missense variant	-	NC_000001.11:g.201313560A>G	gnomAD
rs763269762	p.Lys234Asn	missense variant	-	NC_000001.11:g.201316553G>T	ExAC,TOPMed,gnomAD
rs1313335960	p.Ser237Asn	missense variant	-	NC_000001.11:g.201316561G>A	TOPMed
rs751791220	p.Ser237Gly	missense variant	-	NC_000001.11:g.201316560A>G	ExAC,gnomAD
rs753766542	p.Glu241Asp	missense variant	-	NC_000001.11:g.201316574G>C	ExAC,TOPMed,gnomAD
rs575798229	p.Glu241Lys	missense variant	-	NC_000001.11:g.201316572G>A	1000Genomes,ExAC,TOPMed,gnomAD
COSM902151	p.Cys242Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.201316577C>A	NCI-TCGA Cosmic
rs544439085	p.Cys242Tyr	missense variant	-	NC_000001.11:g.201316576G>A	1000Genomes,ExAC,TOPMed
rs1219867452	p.Ser243Asn	missense variant	-	NC_000001.11:g.201316579G>A	gnomAD
rs375931616	p.Ser243Arg	missense variant	-	NC_000001.11:g.201316580T>A	ESP,ExAC,gnomAD
rs7514146	p.Leu245Met	missense variant	-	NC_000001.11:g.201316584C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs758060401	p.Thr246Ser	missense variant	-	NC_000001.11:g.201316587A>T	ExAC,gnomAD
rs1362589233	p.Pro248Thr	missense variant	-	NC_000001.11:g.201316593C>A	gnomAD
rs777350201	p.Ala250Ser	missense variant	-	NC_000001.11:g.201316599G>T	ExAC,gnomAD
NCI-TCGA novel	p.Ala250Val	missense variant	-	NC_000001.11:g.201316600C>T	NCI-TCGA
rs777350201	p.Ala250Thr	missense variant	-	NC_000001.11:g.201316599G>A	ExAC,gnomAD
rs770390936	p.Val251Leu	missense variant	-	NC_000001.11:g.201316602G>T	ExAC,TOPMed,gnomAD
rs770390936	p.Val251Met	missense variant	-	NC_000001.11:g.201316602G>A	ExAC,TOPMed,gnomAD
rs1371379371	p.Ser255Arg	missense variant	-	NC_000001.11:g.201316616C>A	gnomAD
rs1170766058	p.Ser255Thr	missense variant	-	NC_000001.11:g.201316615G>C	gnomAD
rs746403585	p.Ser255Gly	missense variant	-	NC_000001.11:g.201316614A>G	ExAC,TOPMed,gnomAD
COSM3984607	p.Asp258Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.201316623G>A	NCI-TCGA Cosmic
rs770387949	p.Glu259Lys	missense variant	-	NC_000001.11:g.201316626G>A	ExAC,TOPMed,gnomAD
rs142131454	p.Lys260Met	missense variant	-	NC_000001.11:g.201316630A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1779297	p.Lys260Asn	missense variant	-	NC_000001.11:g.201316631G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs528045800	p.Tyr261His	missense variant	-	NC_000001.11:g.201316632T>C	1000Genomes,ExAC,gnomAD
rs762072549	p.Ala263Thr	missense variant	-	NC_000001.11:g.201316638G>A	ExAC,gnomAD
rs767514466	p.Ala263Val	missense variant	-	NC_000001.11:g.201316639C>T	ExAC,TOPMed,gnomAD
rs767514466	p.Ala263Asp	missense variant	-	NC_000001.11:g.201316639C>A	ExAC,TOPMed,gnomAD
rs773235619	p.Ile264Val	missense variant	-	NC_000001.11:g.201316641A>G	ExAC,gnomAD
rs369999615	p.Ile264Thr	missense variant	-	NC_000001.11:g.201316642T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1183143451	p.Gly265Arg	missense variant	-	NC_000001.11:g.201316644G>A	TOPMed
rs752617382	p.Ala266Asp	missense variant	-	NC_000001.11:g.201316648C>A	ExAC,TOPMed,gnomAD
rs765102835	p.Ala266Thr	missense variant	-	NC_000001.11:g.201316647G>A	ExAC,TOPMed,gnomAD
rs758196282	p.Tyr267Asn	missense variant	-	NC_000001.11:g.201316650T>A	ExAC,gnomAD
rs763920731	p.Gln270Ter	stop gained	-	NC_000001.11:g.201316659C>T	ExAC,gnomAD
rs1167122922	p.Thr272Ile	missense variant	-	NC_000001.11:g.201316666C>T	TOPMed,gnomAD
rs1429275552	p.Thr272Ala	missense variant	-	NC_000001.11:g.201316665A>G	TOPMed,gnomAD
rs756889590	p.Cys273Arg	missense variant	-	NC_000001.11:g.201316668T>C	ExAC,gnomAD
rs970789193	p.Cys273Tyr	missense variant	-	NC_000001.11:g.201316669G>A	gnomAD
RCV000281650	p.Phe274Leu	missense variant	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201316673C>G	ClinVar
rs886045810	p.Phe274Leu	missense variant	-	NC_000001.11:g.201316673C>G	-
rs780602512	p.Gln275Leu	missense variant	-	NC_000001.11:g.201316675A>T	ExAC,TOPMed,gnomAD
rs1449856757	p.Asp276Val	missense variant	-	NC_000001.11:g.201316678A>T	gnomAD
rs191741262	p.Asp276Tyr	missense variant	-	NC_000001.11:g.201316677G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1317412375	p.Lys280Thr	missense variant	-	NC_000001.11:g.201316690A>C	TOPMed
RCV000585663	p.Gln281Ter	nonsense	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201316692C>T	ClinVar
rs1553275192	p.Gln281Ter	stop gained	-	NC_000001.11:g.201316692C>T	-
rs755668320	p.Gln282Arg	missense variant	-	NC_000001.11:g.201316696A>G	ExAC,gnomAD
rs1299124137	p.Gln282Glu	missense variant	-	NC_000001.11:g.201316695C>G	gnomAD
rs983761036	p.Tyr284Cys	missense variant	-	NC_000001.11:g.201317576A>G	TOPMed,gnomAD
rs755470231	p.Gln285Arg	missense variant	-	NC_000001.11:g.201317579A>G	ExAC,gnomAD
rs1278309769	p.Leu286Arg	missense variant	-	NC_000001.11:g.201317582T>G	TOPMed
rs1286574662	p.Gly288Asp	missense variant	-	NC_000001.11:g.201317588G>A	gnomAD
rs779150281	p.Ile289Asn	missense variant	-	NC_000001.11:g.201317591T>A	ExAC,TOPMed,gnomAD
rs1386934403	p.Cys290Phe	missense variant	-	NC_000001.11:g.201317594G>T	gnomAD
rs1344655333	p.Val293Met	missense variant	-	NC_000001.11:g.201317602G>A	TOPMed
NCI-TCGA novel	p.Asp294Gly	missense variant	-	NC_000001.11:g.201317606A>G	NCI-TCGA
rs150414253	p.Leu295Ile	missense variant	-	NC_000001.11:g.201317608C>A	ESP,ExAC,TOPMed,gnomAD
rs150414253	p.Leu295Val	missense variant	-	NC_000001.11:g.201317608C>G	ESP,ExAC,TOPMed,gnomAD
rs564123317	p.Leu296Phe	missense variant	-	NC_000001.11:g.201317611C>T	1000Genomes,ExAC
rs368718493	p.Arg297Gly	missense variant	-	NC_000001.11:g.201317614C>G	ESP,ExAC,TOPMed,gnomAD
rs368718493	p.Arg297Cys	missense variant	-	NC_000001.11:g.201317614C>T	ESP,ExAC,TOPMed,gnomAD
rs771050304	p.Arg297His	missense variant	-	NC_000001.11:g.201317615G>A	ExAC,TOPMed,gnomAD
rs757337621	p.Pro299Ser	missense variant	-	NC_000001.11:g.201317620C>T	ExAC,gnomAD
RCV000341126	p.Asn300Thr	missense variant	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201317624A>C	ClinVar
rs552414505	p.Asn300Ser	missense variant	-	NC_000001.11:g.201317624A>G	ExAC,TOPMed,gnomAD
rs552414505	p.Asn300Thr	missense variant	-	NC_000001.11:g.201317624A>C	ExAC,TOPMed,gnomAD
rs190053583	p.Asn302Lys	missense variant	-	NC_000001.11:g.201317631C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1222099337	p.Asn302Ile	missense variant	-	NC_000001.11:g.201317630A>T	TOPMed,gnomAD
rs1222099337	p.Asn302Ser	missense variant	-	NC_000001.11:g.201317630A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Asn302Tyr	missense variant	-	NC_000001.11:g.201317629A>T	NCI-TCGA
rs143092948	p.Val303Phe	missense variant	-	NC_000001.11:g.201317632G>T	ESP,ExAC,TOPMed,gnomAD
rs143092948	p.Val303Ile	missense variant	-	NC_000001.11:g.201317632G>A	ESP,ExAC,TOPMed,gnomAD
rs1416707756	p.Gln304Arg	missense variant	-	NC_000001.11:g.201317636A>G	TOPMed
rs121918354	p.Gln304Ter	stop gained	-	NC_000001.11:g.201317635C>T	gnomAD
RCV000008041	p.Gln304Ter	nonsense	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201317635C>T	ClinVar
NCI-TCGA novel	p.Gln304Leu	missense variant	-	NC_000001.11:g.201317636A>T	NCI-TCGA
rs760352453	p.Gln305Leu	missense variant	-	NC_000001.11:g.201317639A>T	ExAC,gnomAD
rs1418362759	p.Ala306Ser	missense variant	-	NC_000001.11:g.201317641G>T	gnomAD
rs1029639917	p.Ala306Asp	missense variant	-	NC_000001.11:g.201317642C>A	TOPMed,gnomAD
rs142112484	p.Ala307Thr	missense variant	-	NC_000001.11:g.201317644G>A	ESP,ExAC,TOPMed,gnomAD
rs536481505	p.Ala307Val	missense variant	-	NC_000001.11:g.201317645C>T	ExAC,TOPMed,gnomAD
rs142112484	p.Ala307Ser	missense variant	-	NC_000001.11:g.201317644G>T	ESP,ExAC,TOPMed,gnomAD
rs529199336	p.Ala308Pro	missense variant	-	NC_000001.11:g.201317647G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs778090662	p.Gly309Glu	missense variant	-	NC_000001.11:g.201317651G>A	ExAC,TOPMed,gnomAD
rs1308970654	p.Gly309Trp	missense variant	-	NC_000001.11:g.201317650G>T	gnomAD
rs747256472	p.Ala310Thr	missense variant	-	NC_000001.11:g.201317653G>A	ExAC,TOPMed,gnomAD
rs771105522	p.Ala310Gly	missense variant	-	NC_000001.11:g.201317654C>G	ExAC,TOPMed,gnomAD
rs745907195	p.Leu311Pro	missense variant	-	NC_000001.11:g.201317657T>C	ExAC,gnomAD
rs769754162	p.Arg312His	missense variant	-	NC_000001.11:g.201317660G>A	ExAC,TOPMed,gnomAD
rs1412701858	p.Arg312Cys	missense variant	-	NC_000001.11:g.201317659C>T	TOPMed
rs774382764	p.Asn313Asp	missense variant	-	NC_000001.11:g.201317662A>G	ExAC,gnomAD
rs1251620348	p.Val315Gly	missense variant	-	NC_000001.11:g.201317669T>G	gnomAD
rs1006759897	p.Arg317Gly	missense variant	-	NC_000001.11:g.201317674A>G	gnomAD
COSM116767	p.Arg317Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.201317675G>T	NCI-TCGA Cosmic
COSM4026913	p.Ser318Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.201317678G>T	NCI-TCGA Cosmic
rs773099218	p.Ser318Gly	missense variant	-	NC_000001.11:g.201317677A>G	ExAC,gnomAD
rs760407315	p.Thr319Asn	missense variant	-	NC_000001.11:g.201317681C>A	ExAC,gnomAD
rs760407315	p.Thr319Ile	missense variant	-	NC_000001.11:g.201317681C>T	ExAC,gnomAD
rs1383032907	p.Thr320Ala	missense variant	-	NC_000001.11:g.201317683A>G	gnomAD
rs926871091	p.Asn321Thr	missense variant	-	NC_000001.11:g.201317687A>C	TOPMed
NCI-TCGA novel	p.Asn321Lys	missense variant	-	NC_000001.11:g.201317688C>G	NCI-TCGA
rs753419415	p.Lys322Glu	missense variant	-	NC_000001.11:g.201317689A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu323Arg	missense variant	-	NC_000001.11:g.201317693T>G	NCI-TCGA
rs1166351797	p.Glu324Asp	missense variant	-	NC_000001.11:g.201317697G>T	TOPMed
rs759152117	p.Arg326Trp	missense variant	-	NC_000001.11:g.201317701C>T	ExAC,TOPMed,gnomAD
rs764623008	p.Arg326Gln	missense variant	-	NC_000001.11:g.201317702G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln328Ter	stop gained	-	NC_000001.11:g.201317707C>T	NCI-TCGA
rs758855160	p.Gly330Ala	missense variant	-	NC_000001.11:g.201317714G>C	ExAC,gnomAD
rs758855160	p.Gly330Glu	missense variant	-	NC_000001.11:g.201317714G>A	ExAC,gnomAD
rs758855160	p.Gly330Val	missense variant	-	NC_000001.11:g.201317714G>T	ExAC,gnomAD
RCV000306163	p.Arg332His	missense variant	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201317720G>A	ClinVar
rs781540602	p.Arg332His	missense variant	-	NC_000001.11:g.201317720G>A	ExAC,TOPMed,gnomAD
rs562755351	p.Arg332Cys	missense variant	-	NC_000001.11:g.201317719C>T	1000Genomes,ExAC,gnomAD
rs781540602	p.Arg332Pro	missense variant	-	NC_000001.11:g.201317720G>C	ExAC,TOPMed,gnomAD
rs1295125354	p.Glu333Lys	missense variant	-	NC_000001.11:g.201317722G>A	gnomAD
rs1306748849	p.Glu333Asp	missense variant	-	NC_000001.11:g.201317724G>C	gnomAD
rs1278620132	p.Ala334Thr	missense variant	-	NC_000001.11:g.201317725G>A	gnomAD
rs1222486877	p.Leu337Phe	missense variant	-	NC_000001.11:g.201317734C>T	TOPMed
COSM1337816	p.Arg340Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.201317744G>T	NCI-TCGA Cosmic
rs909598338	p.Thr341Ser	missense variant	-	NC_000001.11:g.201317747C>G	TOPMed,gnomAD
rs909598338	p.Thr341Ile	missense variant	-	NC_000001.11:g.201317747C>T	TOPMed,gnomAD
rs1212802211	p.Thr341Ala	missense variant	-	NC_000001.11:g.201317746A>G	gnomAD
rs375682551	p.Gly342Arg	missense variant	-	NC_000001.11:g.201317749G>A	ESP,ExAC,TOPMed,gnomAD
rs368398439	p.Asn343Lys	missense variant	-	NC_000001.11:g.201317754C>A	ESP,ExAC,TOPMed,gnomAD
rs770845681	p.Ala344Thr	missense variant	-	NC_000001.11:g.201317755G>A	ExAC,TOPMed,gnomAD
rs776387347	p.Glu345Lys	missense variant	-	NC_000001.11:g.201317758G>A	ExAC,gnomAD
rs759089223	p.Glu345Asp	missense variant	-	NC_000001.11:g.201317760G>T	ExAC,gnomAD
rs1431537809	p.Thr351Asn	missense variant	-	NC_000001.11:g.201317777C>A	gnomAD
rs1431537809	p.Thr351Ile	missense variant	-	NC_000001.11:g.201317777C>T	gnomAD
rs1365163443	p.Leu354Val	missense variant	-	NC_000001.11:g.201318623C>G	gnomAD
rs756371390	p.Trp355Ter	stop gained	-	NC_000001.11:g.201318628G>A	ExAC,TOPMed,gnomAD
rs756371390	p.Trp355Cys	missense variant	-	NC_000001.11:g.201318628G>C	ExAC,TOPMed,gnomAD
COSM902157	p.Asn356Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.201318629A>G	NCI-TCGA Cosmic
rs766566983	p.Ser359Phe	missense variant	-	NC_000001.11:g.201318639C>T	ExAC,gnomAD
rs754107866	p.Thr360Ile	missense variant	-	NC_000001.11:g.201318642C>T	ExAC,gnomAD
rs755149186	p.Asp361Asn	missense variant	-	NC_000001.11:g.201318644G>A	ExAC,gnomAD
rs751571523	p.Glu362Lys	missense variant	-	NC_000001.11:g.201318647G>A	ExAC,TOPMed,gnomAD
rs1358239313	p.Lys364Arg	missense variant	-	NC_000001.11:g.201318654A>G	gnomAD
rs1220721326	p.Glu365Val	missense variant	-	NC_000001.11:g.201318657A>T	gnomAD
rs1408857173	p.Glu365Lys	missense variant	-	NC_000001.11:g.201318656G>A	TOPMed
NCI-TCGA novel	p.Glu365GlyPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.201318654_201318655insGG	NCI-TCGA
rs781048548	p.Ile368Thr	missense variant	-	NC_000001.11:g.201318666T>C	ExAC,gnomAD
rs142169193	p.Ile368Val	missense variant	-	NC_000001.11:g.201318665A>G	ESP,ExAC,TOPMed,gnomAD
rs950879982	p.Ala369Val	missense variant	-	NC_000001.11:g.201318669C>T	gnomAD
rs950879982	p.Ala369Asp	missense variant	-	NC_000001.11:g.201318669C>A	gnomAD
rs180970899	p.Asp370Asn	missense variant	-	NC_000001.11:g.201318671G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs779752881	p.Asp370Glu	missense variant	-	NC_000001.11:g.201318673C>A	ExAC,TOPMed,gnomAD
rs941239402	p.Ala371Thr	missense variant	-	NC_000001.11:g.201318674G>A	TOPMed,gnomAD
rs1170703539	p.Ala371Val	missense variant	-	NC_000001.11:g.201318675C>T	gnomAD
rs1270828236	p.Leu372Pro	missense variant	-	NC_000001.11:g.201318678T>C	TOPMed
rs1328161469	p.Pro373Ser	missense variant	-	NC_000001.11:g.201318680C>T	gnomAD
rs1352645485	p.Pro373Arg	missense variant	-	NC_000001.11:g.201318681C>G	gnomAD
rs145561852	p.Asp377His	missense variant	-	NC_000001.11:g.201318692G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs145561852	p.Asp377Tyr	missense variant	-	NC_000001.11:g.201318692G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs145561852	p.Asp377Asn	missense variant	-	NC_000001.11:g.201318692G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000399466	p.Arg378His	missense variant	-	NC_000001.11:g.201318696G>A	ClinVar
rs761010595	p.Arg378His	missense variant	-	NC_000001.11:g.201318696G>A	ExAC,TOPMed,gnomAD
rs200975137	p.Arg378Cys	missense variant	-	NC_000001.11:g.201318695C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs528712537	p.Val379Ile	missense variant	-	NC_000001.11:g.201318698G>A	TOPMed,gnomAD
rs1195568852	p.Val379Gly	missense variant	-	NC_000001.11:g.201318699T>G	TOPMed,gnomAD
rs1417759145	p.Ile381Val	missense variant	-	NC_000001.11:g.201318704A>G	TOPMed
COSM2212245	p.Pro382Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.201318707C>T	NCI-TCGA Cosmic
COSM902159	p.Phe383Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.201318712C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Phe383Val	missense variant	-	NC_000001.11:g.201318710T>G	NCI-TCGA
rs1446838396	p.Ser384Phe	missense variant	-	NC_000001.11:g.201318714C>T	gnomAD
rs1463014197	p.Trp386Ter	stop gained	-	NC_000001.11:g.201318720G>A	gnomAD
rs754170985	p.Trp386Arg	missense variant	-	NC_000001.11:g.201318719T>C	ExAC,TOPMed,gnomAD
rs759774072	p.Cys387Tyr	missense variant	-	NC_000001.11:g.201318723G>A	ExAC,TOPMed,gnomAD
rs141184851	p.Asp388Asn	missense variant	-	NC_000001.11:g.201318725G>A	ESP,ExAC,TOPMed,gnomAD
rs781037825	p.Asn390Lys	missense variant	-	NC_000001.11:g.201318733T>A	ExAC,TOPMed,gnomAD
rs781037825	p.Asn390Lys	missense variant	-	NC_000001.11:g.201318733T>G	ExAC,TOPMed,gnomAD
rs373286108	p.Arg395Leu	missense variant	-	NC_000001.11:g.201318747G>T	ESP,ExAC,TOPMed,gnomAD
rs369928249	p.Arg395Trp	missense variant	-	NC_000001.11:g.201318746C>T	ESP,TOPMed,gnomAD
rs373286108	p.Arg395Gln	missense variant	-	NC_000001.11:g.201318747G>A	ESP,ExAC,TOPMed,gnomAD
rs779771060	p.Glu396Asp	missense variant	-	NC_000001.11:g.201318751A>T	ExAC,TOPMed,gnomAD
rs1337294642	p.Asp399Asn	missense variant	-	NC_000001.11:g.201318758G>A	gnomAD
rs1404802260	p.Pro400Ala	missense variant	-	NC_000001.11:g.201318761C>G	gnomAD
rs483352688	p.Pro400Leu	missense variant	-	NC_000001.11:g.201318762C>T	-
rs1404802260	p.Pro400Ser	missense variant	-	NC_000001.11:g.201318761C>T	gnomAD
RCV000087165	p.Pro400Leu	missense variant	-	NC_000001.11:g.201318762C>T	ClinVar
rs768259659	p.Glu401Gly	missense variant	-	NC_000001.11:g.201318765A>G	ExAC,gnomAD
COSM902163	p.Phe403Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.201318770T>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Phe403Leu	missense variant	-	NC_000001.11:g.201318772C>A	NCI-TCGA
rs200023228	p.Phe404Leu	missense variant	-	NC_000001.11:g.201318775C>G	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala406Thr	missense variant	-	NC_000001.11:g.201318779G>A	NCI-TCGA
NCI-TCGA novel	p.Ala406Val	missense variant	-	NC_000001.11:g.201318780C>T	NCI-TCGA
rs747662140	p.Ala406Asp	missense variant	-	NC_000001.11:g.201318780C>A	ExAC,gnomAD
rs750345278	p.Lys412Thr	missense variant	-	NC_000001.11:g.201319818A>C	ExAC,gnomAD
rs1183371664	p.Arg413Gly	missense variant	-	NC_000001.11:g.201319820A>G	gnomAD
rs1626370	p.Gly415Asp	missense variant	-	NC_000001.11:g.201319827G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1452392453	p.Met416Val	missense variant	-	NC_000001.11:g.201319829A>G	gnomAD
rs555119427	p.Met416Thr	missense variant	-	NC_000001.11:g.201319830T>C	ExAC,TOPMed,gnomAD
rs1367004080	p.Arg417Trp	missense variant	-	NC_000001.11:g.201319832C>T	TOPMed,gnomAD
rs558439674	p.Arg417Gln	missense variant	-	NC_000001.11:g.201319833G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs558439674	p.Arg417Pro	missense variant	-	NC_000001.11:g.201319833G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs778577256	p.Ala421Thr	missense variant	-	NC_000001.11:g.201319844G>A	ExAC,gnomAD
rs749251560	p.Leu422Phe	missense variant	-	NC_000001.11:g.201319847C>T	ExAC,TOPMed,gnomAD
rs757904043	p.Val423Ile	missense variant	-	NC_000001.11:g.201319850G>A	ExAC,gnomAD
rs41269939	p.Pro424Leu	missense variant	-	NC_000001.11:g.201319854C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs41269939	p.Pro424Gln	missense variant	-	NC_000001.11:g.201319854C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs777156700	p.Gln425Ter	stop gained	-	NC_000001.11:g.201319856C>T	ExAC,gnomAD
rs746280950	p.Gln425Arg	missense variant	-	NC_000001.11:g.201319857A>G	ExAC,TOPMed,gnomAD
rs746280950	p.Gln425Pro	missense variant	-	NC_000001.11:g.201319857A>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln425His	missense variant	-	NC_000001.11:g.201319858A>T	NCI-TCGA
rs770248891	p.Ala427Thr	missense variant	-	NC_000001.11:g.201319862G>A	ExAC,TOPMed,gnomAD
rs1195386265	p.Ala427Gly	missense variant	-	NC_000001.11:g.201319863C>G	TOPMed
rs775638130	p.Thr428Ile	missense variant	-	NC_000001.11:g.201319866C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ser430GluPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.201319870_201319871insG	NCI-TCGA
rs764089216	p.Arg431Lys	missense variant	-	NC_000001.11:g.201319875G>A	ExAC,gnomAD
rs147220754	p.Val432Met	missense variant	-	NC_000001.11:g.201319877G>A	ESP,ExAC,gnomAD
rs147220754	p.Val432Leu	missense variant	-	NC_000001.11:g.201319877G>T	ESP,ExAC,gnomAD
rs370631788	p.Leu434Val	missense variant	-	NC_000001.11:g.201320271C>G	ESP,ExAC,gnomAD
RCV000312725	p.Leu434Met	missense variant	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201320271C>A	ClinVar
rs370631788	p.Leu434Met	missense variant	-	NC_000001.11:g.201320271C>A	ESP,ExAC,gnomAD
rs151203492	p.Ser436Leu	missense variant	-	NC_000001.11:g.201320278C>T	ESP,ExAC,gnomAD
COSM3385611	p.Ala437Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.201320280G>A	NCI-TCGA Cosmic
rs1262653085	p.Ala437Val	missense variant	-	NC_000001.11:g.201320281C>T	TOPMed
rs141222689	p.Asp438His	missense variant	-	NC_000001.11:g.201320283G>C	ESP,ExAC,TOPMed,gnomAD
rs141222689	p.Asp438Asn	missense variant	-	NC_000001.11:g.201320283G>A	ESP,ExAC,TOPMed,gnomAD
rs1307135760	p.Asp438Glu	missense variant	-	NC_000001.11:g.201320285T>A	TOPMed
rs1306697511	p.Ala439Val	missense variant	-	NC_000001.11:g.201320287C>T	gnomAD
rs146785756	p.Arg441Ser	missense variant	-	NC_000001.11:g.201320292C>A	ESP,ExAC,TOPMed,gnomAD
rs569372122	p.Arg441His	missense variant	-	NC_000001.11:g.201320293G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs146785756	p.Arg441Cys	missense variant	-	NC_000001.11:g.201320292C>T	ESP,ExAC,TOPMed,gnomAD
rs749713611	p.Gln442Arg	missense variant	-	NC_000001.11:g.201320296A>G	ExAC,gnomAD
rs1202429288	p.Gln442Ter	stop gained	-	NC_000001.11:g.201320295C>T	gnomAD
rs1046125389	p.Thr443Asn	missense variant	-	NC_000001.11:g.201320299C>A	TOPMed
rs1486604991	p.Met444Thr	missense variant	-	NC_000001.11:g.201320302T>C	TOPMed,gnomAD
rs376870836	p.Arg445His	missense variant	-	NC_000001.11:g.201320305G>A	ESP,ExAC,TOPMed,gnomAD
rs551980188	p.Arg445Cys	missense variant	-	NC_000001.11:g.201320304C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Tyr447Ter	stop gained	-	NC_000001.11:g.201320312C>A	NCI-TCGA
NCI-TCGA novel	p.Tyr447Asp	missense variant	-	NC_000001.11:g.201320310T>G	NCI-TCGA
rs1429820969	p.Ser448Ter	stop gained	-	NC_000001.11:g.201320314C>A	gnomAD
rs748356700	p.Gly449Val	missense variant	-	NC_000001.11:g.201320317G>T	ExAC,TOPMed,gnomAD
rs748356700	p.Gly449Glu	missense variant	-	NC_000001.11:g.201320317G>A	ExAC,TOPMed,gnomAD
rs772152416	p.Ile451Val	missense variant	-	NC_000001.11:g.201320322A>G	ExAC
rs1173964822	p.Leu454Val	missense variant	-	NC_000001.11:g.201320331C>G	gnomAD
rs773209004	p.Met455Ile	missense variant	-	NC_000001.11:g.201320336G>A	ExAC,gnomAD
rs1247733986	p.Met455Thr	missense variant	-	NC_000001.11:g.201320335T>C	TOPMed
rs1431831173	p.Met455Val	missense variant	-	NC_000001.11:g.201320334A>G	TOPMed,gnomAD
rs769720924	p.Tyr457Cys	missense variant	-	NC_000001.11:g.201320341A>G	ExAC,gnomAD
rs1450179863	p.Val458Ile	missense variant	-	NC_000001.11:g.201320343G>A	TOPMed
rs1217670087	p.Cys461Ser	missense variant	-	NC_000001.11:g.201320353G>C	TOPMed
rs935965202	p.Cys461Arg	missense variant	-	NC_000001.11:g.201320352T>C	TOPMed
rs775266106	p.Val462Ile	missense variant	-	NC_000001.11:g.201320355G>A	ExAC,gnomAD
rs10920171	p.Ala463Val	missense variant	-	NC_000001.11:g.201320359C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000369788	p.Ala463Val	missense variant	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201320359C>T	ClinVar
rs376318223	p.Ala464Ser	missense variant	-	NC_000001.11:g.201320361G>T	ESP,ExAC,gnomAD
rs767171812	p.Ala464Val	missense variant	-	NC_000001.11:g.201320362C>T	ExAC,gnomAD
rs376318223	p.Ala464Pro	missense variant	-	NC_000001.11:g.201320361G>C	ESP,ExAC,gnomAD
rs749907021	p.Ser465Arg	missense variant	-	NC_000001.11:g.201320364A>C	ExAC,gnomAD
rs749907021	p.Ser465Cys	missense variant	-	NC_000001.11:g.201320364A>T	ExAC,gnomAD
NCI-TCGA novel	p.Ser465Asn	missense variant	-	NC_000001.11:g.201320365G>A	NCI-TCGA
rs74136386	p.Arg466Cys	missense variant	-	NC_000001.11:g.201320367C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs137968512	p.Arg466His	missense variant	-	NC_000001.11:g.201320368G>A	ESP,ExAC,TOPMed,gnomAD
rs74136386	p.Arg466Ser	missense variant	-	NC_000001.11:g.201320367C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000277584	p.Cys467Arg	missense variant	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201320370T>C	ClinVar
rs763384777	p.Cys467Tyr	missense variant	-	NC_000001.11:g.201320371G>A	ExAC,TOPMed,gnomAD
rs78672252	p.Cys467Arg	missense variant	-	NC_000001.11:g.201320370T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs375542525	p.Asp468Glu	missense variant	-	NC_000001.11:g.201320375C>G	ESP,ExAC,TOPMed,gnomAD
rs772241922	p.Asp469His	missense variant	-	NC_000001.11:g.201320376G>C	ExAC,TOPMed,gnomAD
rs1359491630	p.Asp469Glu	missense variant	-	NC_000001.11:g.201320378C>A	TOPMed
rs772241922	p.Asp469Asn	missense variant	-	NC_000001.11:g.201320376G>A	ExAC,TOPMed,gnomAD
rs777852399	p.Lys470Arg	missense variant	-	NC_000001.11:g.201320380A>G	ExAC,gnomAD
rs760110335	p.Val472Leu	missense variant	-	NC_000001.11:g.201321981G>C	ExAC,gnomAD
rs760110335	p.Val472Met	missense variant	-	NC_000001.11:g.201321981G>A	ExAC,gnomAD
rs1272230675	p.Glu473Ala	missense variant	-	NC_000001.11:g.201321985A>C	TOPMed,gnomAD
rs1272230675	p.Glu473Gly	missense variant	-	NC_000001.11:g.201321985A>G	TOPMed,gnomAD
rs1340478586	p.Asn474Ser	missense variant	-	NC_000001.11:g.201321988A>G	gnomAD
rs1225375600	p.Met476Leu	missense variant	-	NC_000001.11:g.201321993A>C	TOPMed
rs1218632733	p.Cys477Tyr	missense variant	-	NC_000001.11:g.201321997G>A	TOPMed,gnomAD
rs1256681630	p.Val478Asp	missense variant	-	NC_000001.11:g.201322000T>A	gnomAD
rs371151624	p.His480Asn	missense variant	-	NC_000001.11:g.201322005C>A	ESP,ExAC,TOPMed,gnomAD
rs371151624	p.His480Tyr	missense variant	-	NC_000001.11:g.201322005C>T	ESP,ExAC,TOPMed,gnomAD
rs1255743643	p.His480Arg	missense variant	-	NC_000001.11:g.201322006A>G	gnomAD
rs751817941	p.Arg485Leu	missense variant	-	NC_000001.11:g.201322021G>T	ExAC,TOPMed,gnomAD
rs374293363	p.Arg485Cys	missense variant	-	NC_000001.11:g.201322020C>T	ESP,ExAC,TOPMed,gnomAD
rs374293363	p.Arg485Gly	missense variant	-	NC_000001.11:g.201322020C>G	ESP,ExAC,TOPMed,gnomAD
rs751817941	p.Arg485His	missense variant	-	NC_000001.11:g.201322021G>A	ExAC,TOPMed,gnomAD
rs1475602903	p.Asp487Gly	missense variant	-	NC_000001.11:g.201322027A>G	gnomAD
rs756235980	p.Ala488Val	missense variant	-	NC_000001.11:g.201322030C>T	ExAC,gnomAD
rs745987954	p.Ala488Thr	missense variant	-	NC_000001.11:g.201322029G>A	ExAC,TOPMed,gnomAD
rs748085816	p.Glu489Lys	missense variant	-	NC_000001.11:g.201322032G>A	ExAC,TOPMed,gnomAD
rs772008553	p.Val490Ala	missense variant	-	NC_000001.11:g.201322036T>C	ExAC,gnomAD
COSM6123673	p.Pro491His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.201322039C>A	NCI-TCGA Cosmic
rs1327429399	p.Pro491Ser	missense variant	-	NC_000001.11:g.201322038C>T	gnomAD
rs777364969	p.Thr492Ile	missense variant	-	NC_000001.11:g.201322042C>T	ExAC,gnomAD
rs770440066	p.Arg493Cys	missense variant	-	NC_000001.11:g.201322044C>T	ExAC,TOPMed,gnomAD
rs776324521	p.Arg493His	missense variant	-	NC_000001.11:g.201322045G>A	ExAC,TOPMed,gnomAD
rs148461275	p.Arg495Cys	missense variant	-	NC_000001.11:g.201322050C>T	ESP,ExAC,TOPMed,gnomAD
rs769288054	p.Arg495His	missense variant	-	NC_000001.11:g.201322051G>A	ExAC,TOPMed,gnomAD
rs148461275	p.Arg495Ser	missense variant	-	NC_000001.11:g.201322050C>A	ESP,ExAC,TOPMed,gnomAD
rs769288054	p.Arg495Leu	missense variant	-	NC_000001.11:g.201322051G>T	ExAC,TOPMed,gnomAD
rs1207162563	p.Leu497Val	missense variant	-	NC_000001.11:g.201322056C>G	TOPMed,gnomAD
rs557982962	p.Glu498Gln	missense variant	-	NC_000001.11:g.201322059G>C	TOPMed,gnomAD
rs988662998	p.Tyr499His	missense variant	-	NC_000001.11:g.201322062T>C	TOPMed
rs796851710	p.Ala501Val	missense variant	-	NC_000001.11:g.201322069C>T	TOPMed,gnomAD
rs201459638	p.Ala501Ser	missense variant	-	NC_000001.11:g.201322068G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201459638	p.Ala501Thr	missense variant	-	NC_000001.11:g.201322068G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs370789305	p.Arg502Cys	missense variant	-	NC_000001.11:g.201322071C>T	ESP,ExAC,TOPMed,gnomAD
rs188436125	p.Arg502His	missense variant	-	NC_000001.11:g.201322072G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs188436125	p.Arg502Leu	missense variant	-	NC_000001.11:g.201322072G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs370789305	p.Arg502Ser	missense variant	-	NC_000001.11:g.201322071C>A	ESP,ExAC,TOPMed,gnomAD
rs146580475	p.Asn503Lys	missense variant	-	NC_000001.11:g.201322076C>G	ESP,ExAC,TOPMed,gnomAD
rs1366980036	p.Asn503Asp	missense variant	-	NC_000001.11:g.201322074A>G	TOPMed
rs752689001	p.Ala504Thr	missense variant	-	NC_000001.11:g.201322077G>A	ExAC,TOPMed,gnomAD
rs752689001	p.Ala504Pro	missense variant	-	NC_000001.11:g.201322077G>C	ExAC,TOPMed,gnomAD
rs201374321	p.Ala504Val	missense variant	-	NC_000001.11:g.201322078C>T	ExAC,TOPMed,gnomAD
rs199797105	p.Tyr505Cys	missense variant	-	NC_000001.11:g.201322081A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs770728579	p.Thr506Ser	missense variant	-	NC_000001.11:g.201322084C>G	ExAC,gnomAD
rs745505593	p.Glu507Lys	missense variant	-	NC_000001.11:g.201322086G>A	ExAC,gnomAD
rs1269805388	p.Glu507Asp	missense variant	-	NC_000001.11:g.201322088G>T	TOPMed
NCI-TCGA novel	p.Glu507Ter	stop gained	-	NC_000001.11:g.201322086G>T	NCI-TCGA
rs1329470812	p.Lys508Ter	stop gained	-	NC_000001.11:g.201322089A>T	gnomAD
rs1241217137	p.Ser510Pro	missense variant	-	NC_000001.11:g.201322095T>C	gnomAD
NCI-TCGA novel	p.Thr511Ala	missense variant	-	NC_000001.11:g.201322098A>G	NCI-TCGA
rs1280395238	p.Gly512Asp	missense variant	-	NC_000001.11:g.201322102G>A	gnomAD
rs769304351	p.Cys513Phe	missense variant	-	NC_000001.11:g.201322105G>T	ExAC,gnomAD
rs774911270	p.Asn516Ser	missense variant	-	NC_000001.11:g.201322114A>G	ExAC,gnomAD
rs763478928	p.Ser518Asn	missense variant	-	NC_000001.11:g.201322120G>A	ExAC,TOPMed,gnomAD
rs769099812	p.Asp519Asn	missense variant	-	NC_000001.11:g.201322122G>A	ExAC,TOPMed,gnomAD
rs774895069	p.Lys520Arg	missense variant	-	NC_000001.11:g.201322126A>G	ExAC,TOPMed,gnomAD
rs561719416	p.Met521Ile	missense variant	-	NC_000001.11:g.201322130G>A	1000Genomes,ExAC,gnomAD
rs561719416	p.Met521Ile	missense variant	-	NC_000001.11:g.201322130G>C	1000Genomes,ExAC,gnomAD
rs1380543459	p.Met522Thr	missense variant	-	NC_000001.11:g.201322132T>C	gnomAD
rs1423476509	p.Asn523Lys	missense variant	-	NC_000001.11:g.201323015C>A	gnomAD
rs1005514362	p.Asn523Asp	missense variant	-	NC_000001.11:g.201323013A>G	TOPMed
rs143670888	p.Asn524Asp	missense variant	-	NC_000001.11:g.201323016A>G	ESP,ExAC,TOPMed,gnomAD
rs1366852333	p.Asp527His	missense variant	-	NC_000001.11:g.201323025G>C	TOPMed
rs1366886599	p.Pro529His	missense variant	-	NC_000001.11:g.201323032C>A	gnomAD
rs1366886599	p.Pro529Arg	missense variant	-	NC_000001.11:g.201323032C>G	gnomAD
rs775595060	p.Leu530Val	missense variant	-	NC_000001.11:g.201323034C>G	ExAC,TOPMed,gnomAD
rs913982316	p.Leu530Pro	missense variant	-	NC_000001.11:g.201323035T>C	TOPMed
rs998787266	p.Pro531Leu	missense variant	-	NC_000001.11:g.201323038C>T	TOPMed
rs371952348	p.Glu532Lys	missense variant	-	NC_000001.11:g.201323040G>A	ESP,ExAC,gnomAD
rs764075127	p.Glu533Lys	missense variant	-	NC_000001.11:g.201323043G>A	TOPMed
COSM425002	p.Glu534Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.201323046G>C	NCI-TCGA Cosmic
rs540459096	p.Thr535Ile	missense variant	-	NC_000001.11:g.201323050C>T	1000Genomes,gnomAD
COSM4400058	p.Asn536Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.201323053A>C	NCI-TCGA Cosmic
rs1339675923	p.Asn536Tyr	missense variant	-	NC_000001.11:g.201323052A>T	gnomAD
rs751444082	p.Asn536Ser	missense variant	-	NC_000001.11:g.201323053A>G	ExAC,gnomAD
rs1288395101	p.Asn536Lys	missense variant	-	NC_000001.11:g.201323054C>A	TOPMed,gnomAD
rs755963789	p.Pro537Ser	missense variant	-	NC_000001.11:g.201323055C>T	ExAC,gnomAD
rs766109517	p.Lys538Asn	missense variant	-	NC_000001.11:g.201323060G>T	ExAC,gnomAD
rs150488138	p.Ser540Arg	missense variant	-	NC_000001.11:g.201323066C>A	ESP,ExAC,TOPMed,gnomAD
rs946700138	p.Ser540Asn	missense variant	-	NC_000001.11:g.201323065G>A	gnomAD
rs149193673	p.Gly541Ser	missense variant	-	NC_000001.11:g.201323067G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1194792897	p.Gly541Val	missense variant	-	NC_000001.11:g.201323068G>T	gnomAD
rs778309621	p.Trp542Arg	missense variant	-	NC_000001.11:g.201323070T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Trp542Ter	stop gained	-	NC_000001.11:g.201323072G>A	NCI-TCGA
NCI-TCGA novel	p.Trp542Gly	missense variant	-	NC_000001.11:g.201323070T>G	NCI-TCGA
rs757816257	p.Leu543Phe	missense variant	-	NC_000001.11:g.201323075G>T	ExAC,gnomAD
rs752302085	p.Leu543Val	missense variant	-	NC_000001.11:g.201323073T>G	ExAC,gnomAD
rs1223145087	p.His545Arg	missense variant	-	NC_000001.11:g.201323080A>G	TOPMed
rs778488784	p.His545Tyr	missense variant	-	NC_000001.11:g.201323079C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala548Thr	missense variant	-	NC_000001.11:g.201323088G>A	NCI-TCGA
RCV000262373	p.Arg550Cys	missense variant	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201323094C>T	ClinVar
rs143362477	p.Arg550His	missense variant	-	NC_000001.11:g.201323095G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs747503125	p.Arg550Cys	missense variant	-	NC_000001.11:g.201323094C>T	ExAC,TOPMed,gnomAD
rs1336027537	p.Leu553Pro	missense variant	-	NC_000001.11:g.201323104T>C	TOPMed
rs1359644208	p.Asn554Ser	missense variant	-	NC_000001.11:g.201323107A>G	TOPMed,gnomAD
rs1398149786	p.Met556Val	missense variant	-	NC_000001.11:g.201323112A>G	gnomAD
rs770005020	p.Met556Thr	missense variant	-	NC_000001.11:g.201323113T>C	ExAC,gnomAD
rs775550365	p.Gly557Asp	missense variant	-	NC_000001.11:g.201323116G>A	ExAC,TOPMed,gnomAD
rs768711820	p.Lys558Arg	missense variant	-	NC_000001.11:g.201323119A>G	ExAC,gnomAD
rs763130822	p.Lys558Glu	missense variant	-	NC_000001.11:g.201323118A>G	ExAC,TOPMed,gnomAD
rs1303161730	p.Lys558Asn	missense variant	-	NC_000001.11:g.201323120G>C	TOPMed
rs978369182	p.Asp562Asn	missense variant	-	NC_000001.11:g.201323130G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Asp562Gly	missense variant	-	NC_000001.11:g.201323131A>G	NCI-TCGA
rs901040424	p.Asp562Val	missense variant	-	NC_000001.11:g.201323131A>T	TOPMed
rs933818145	p.Ala563Thr	missense variant	-	NC_000001.11:g.201323133G>A	-
COSM4026921	p.Thr564Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.201323136A>G	NCI-TCGA Cosmic
rs760543372	p.Leu565Gln	missense variant	-	NC_000001.11:g.201323140T>A	ExAC,gnomAD
rs1487494170	p.Glu566Asp	missense variant	-	NC_000001.11:g.201323144G>T	TOPMed,gnomAD
rs1285839949	p.Glu566Lys	missense variant	-	NC_000001.11:g.201323142G>A	gnomAD
COSM6123669	p.Cys568Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.201323149G>T	NCI-TCGA Cosmic
rs760493882	p.Ala569Val	missense variant	-	NC_000001.11:g.201323152C>T	ExAC,gnomAD
rs202228705	p.Gly570Val	missense variant	-	NC_000001.11:g.201323155G>T	TOPMed
rs753621238	p.Ala571Thr	missense variant	-	NC_000001.11:g.201323157G>A	ExAC,gnomAD
rs200486077	p.Gly580Arg	missense variant	-	NC_000001.11:g.201323184G>C	gnomAD
NCI-TCGA novel	p.Gly580Trp	missense variant	-	NC_000001.11:g.201323184G>T	NCI-TCGA
rs1363541582	p.Gly580Glu	missense variant	-	NC_000001.11:g.201323185G>A	TOPMed
rs200486077	p.Gly580Arg	missense variant	-	NC_000001.11:g.201323184G>A	gnomAD
rs1227150434	p.Ser584Arg	missense variant	-	NC_000001.11:g.201324436T>G	gnomAD
NCI-TCGA novel	p.Ser584Thr	missense variant	-	NC_000001.11:g.201324435G>C	NCI-TCGA
rs1357449504	p.Gly585Asp	missense variant	-	NC_000001.11:g.201324438G>A	TOPMed
rs752406228	p.Leu589Phe	missense variant	-	NC_000001.11:g.201324451G>C	ExAC,TOPMed,gnomAD
rs202232462	p.Ile590Thr	missense variant	-	NC_000001.11:g.201324453T>C	1000Genomes,ExAC,gnomAD
rs751062007	p.Glu594Gly	missense variant	-	NC_000001.11:g.201324465A>G	ExAC,gnomAD
rs756802087	p.Lys595Arg	missense variant	-	NC_000001.11:g.201324468A>G	ExAC,gnomAD
rs768107145	p.Gly596Ala	missense variant	-	NC_000001.11:g.201324471G>C	ExAC,TOPMed,gnomAD
rs768107145	p.Gly596Val	missense variant	-	NC_000001.11:g.201324471G>T	ExAC,TOPMed,gnomAD
rs1180068321	p.Pro598Ser	missense variant	-	NC_000001.11:g.201324476C>T	gnomAD
rs756518562	p.Ala601Thr	missense variant	-	NC_000001.11:g.201324485G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ala601Val	missense variant	-	NC_000001.11:g.201324486C>T	NCI-TCGA
rs756518562	p.Ala601Ser	missense variant	-	NC_000001.11:g.201324485G>T	ExAC,gnomAD
rs142096411	p.Arg602His	missense variant	-	NC_000001.11:g.201324489G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs377328987	p.Arg602Cys	missense variant	-	NC_000001.11:g.201324488C>T	ESP,ExAC,TOPMed,gnomAD
rs755148151	p.Leu603Ile	missense variant	-	NC_000001.11:g.201324491C>A	ExAC,gnomAD
rs748268397	p.Gly607Asp	missense variant	-	NC_000001.11:g.201324504G>A	ExAC,TOPMed,gnomAD
rs1005266334	p.Ser609Cys	missense variant	-	NC_000001.11:g.201324510C>G	TOPMed,gnomAD
rs1005266334	p.Ser609Phe	missense variant	-	NC_000001.11:g.201324510C>T	TOPMed,gnomAD
rs776686849	p.Arg613Gln	missense variant	-	NC_000001.11:g.201324522G>A	ExAC,TOPMed,gnomAD
rs138678921	p.Arg613Trp	missense variant	-	NC_000001.11:g.201324521C>T	ESP,ExAC,gnomAD
rs769635879	p.Gly615Arg	missense variant	-	NC_000001.11:g.201324527G>A	ExAC
rs775106393	p.Ala616Gly	missense variant	-	NC_000001.11:g.201324531C>G	ExAC,TOPMed,gnomAD
rs775106393	p.Ala616Asp	missense variant	-	NC_000001.11:g.201324531C>A	ExAC,TOPMed,gnomAD
rs1226887996	p.Ser617Phe	missense variant	-	NC_000001.11:g.201324534C>T	TOPMed
rs762713136	p.Leu618Ile	missense variant	-	NC_000001.11:g.201324536C>A	ExAC,gnomAD
rs763884182	p.Leu619Val	missense variant	-	NC_000001.11:g.201324539C>G	ExAC,gnomAD
rs1265259087	p.Met622Ile	missense variant	-	NC_000001.11:g.201324550G>A	gnomAD
rs766882821	p.Arg624His	missense variant	-	NC_000001.11:g.201324555G>A	ExAC,TOPMed,gnomAD
rs761473194	p.Arg624Cys	missense variant	-	NC_000001.11:g.201324554C>T	ExAC,TOPMed,gnomAD
COSM6060559	p.His625Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.201324557C>G	NCI-TCGA Cosmic
rs1438446484	p.His629Arg	missense variant	-	NC_000001.11:g.201324570A>G	TOPMed
rs1350255074	p.Met632Leu	missense variant	-	NC_000001.11:g.201324578A>T	TOPMed
rs532890960	p.Met632Ile	missense variant	-	NC_000001.11:g.201324580G>A	1000Genomes,gnomAD
rs756541920	p.Gly633Trp	missense variant	-	NC_000001.11:g.201324581G>T	ExAC,gnomAD
COSM1668358	p.Gly633Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.201324941G>A	NCI-TCGA Cosmic
rs772552178	p.Asn634Tyr	missense variant	-	NC_000001.11:g.201324943A>T	ExAC,gnomAD
rs1131691647	p.Gln635Ter	stop gained	-	NC_000001.11:g.201324946C>T	-
RCV000493473	p.Gln635Ter	nonsense	-	NC_000001.11:g.201324946C>T	ClinVar
rs760214615	p.Val636Leu	missense variant	-	NC_000001.11:g.201324949G>C	ExAC,TOPMed,gnomAD
rs760214615	p.Val636Leu	missense variant	-	NC_000001.11:g.201324949G>T	ExAC,TOPMed,gnomAD
rs954973948	p.Phe637Ser	missense variant	-	NC_000001.11:g.201324953T>C	TOPMed
rs754339313	p.Pro638Leu	missense variant	-	NC_000001.11:g.201324956C>T	ExAC,TOPMed,gnomAD
rs1180178780	p.Glu639Lys	missense variant	-	NC_000001.11:g.201324958G>A	TOPMed,gnomAD
rs765530477	p.Val640Met	missense variant	-	NC_000001.11:g.201324961G>A	ExAC,gnomAD
rs747386296	p.Val640Ala	missense variant	-	NC_000001.11:g.201324962T>C	ExAC,TOPMed,gnomAD
rs758509306	p.Thr641Pro	missense variant	-	NC_000001.11:g.201324964A>C	ExAC
rs777930312	p.Thr641Ile	missense variant	-	NC_000001.11:g.201324965C>T	ExAC,TOPMed,gnomAD
rs757325454	p.Arg642Gly	missense variant	-	NC_000001.11:g.201324967A>G	ExAC
rs749222532	p.Arg642Ser	missense variant	-	NC_000001.11:g.201324969G>C	ExAC,gnomAD
rs780204854	p.Arg642Met	missense variant	-	NC_000001.11:g.201324968G>T	ExAC
rs768578417	p.Leu643Pro	missense variant	-	NC_000001.11:g.201324971T>C	ExAC
rs1163150196	p.Leu644Phe	missense variant	-	NC_000001.11:g.201324973C>T	TOPMed,gnomAD
rs778813790	p.Leu644Pro	missense variant	-	NC_000001.11:g.201324974T>C	ExAC,gnomAD
rs1252488590	p.Thr645Ile	missense variant	-	NC_000001.11:g.201324977C>T	TOPMed
rs747829507	p.Thr645Pro	missense variant	-	NC_000001.11:g.201324976A>C	ExAC,gnomAD
rs373741646	p.Gly649Ser	missense variant	-	NC_000001.11:g.201324988G>A	ESP,ExAC,TOPMed,gnomAD
rs200677178	p.Asn653Thr	missense variant	-	NC_000001.11:g.201325001A>C	ExAC,TOPMed,gnomAD
rs1342038596	p.Ser654Pro	missense variant	-	NC_000001.11:g.201325003T>C	TOPMed,gnomAD
rs777137706	p.Glu655Lys	missense variant	-	NC_000001.11:g.201325006G>A	ExAC,TOPMed,gnomAD
rs759967131	p.Asp656Val	missense variant	-	NC_000001.11:g.201325010A>T	ExAC,TOPMed,gnomAD
rs973653685	p.Ile657Ser	missense variant	-	NC_000001.11:g.201325013T>G	TOPMed,gnomAD
rs1457087583	p.Ser660Leu	missense variant	-	NC_000001.11:g.201325022C>T	gnomAD
rs763353426	p.Ala661Ser	missense variant	-	NC_000001.11:g.201325024G>T	ExAC,gnomAD
rs1461169842	p.Val665Ala	missense variant	-	NC_000001.11:g.201325037T>C	TOPMed
rs1467255665	p.Val665Leu	missense variant	-	NC_000001.11:g.201325036G>T	gnomAD
RCV000376879	p.Arg666Lys	missense variant	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201325040G>A	ClinVar
rs757610907	p.Arg666Lys	missense variant	-	NC_000001.11:g.201325040G>A	ExAC,gnomAD
RCV000284164	p.Asn667Lys	missense variant	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201325044C>A	ClinVar
rs781360485	p.Asn667Lys	missense variant	-	NC_000001.11:g.201325044C>G	ExAC,TOPMed,gnomAD
rs781360485	p.Asn667Lys	missense variant	-	NC_000001.11:g.201325044C>A	ExAC,TOPMed,gnomAD
rs200736537	p.Met669Thr	missense variant	-	NC_000001.11:g.201325049T>C	1000Genomes
rs200484616	p.Ser671Leu	missense variant	-	NC_000001.11:g.201325055C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro673Ser	missense variant	-	NC_000001.11:g.201325060C>T	NCI-TCGA
COSM6123667	p.Gln674Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.201325064A>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys677Asn	missense variant	-	NC_000001.11:g.201325074G>T	NCI-TCGA
rs771897498	p.Gln678Pro	missense variant	-	NC_000001.11:g.201325076A>C	ExAC,TOPMed,gnomAD
rs771897498	p.Gln678Leu	missense variant	-	NC_000001.11:g.201325076A>T	ExAC,TOPMed,gnomAD
rs777349855	p.Tyr679Phe	missense variant	-	NC_000001.11:g.201325079A>T	ExAC,gnomAD
NCI-TCGA novel	p.Tyr679Ser	missense variant	-	NC_000001.11:g.201325079A>C	NCI-TCGA
rs1467836925	p.Phe680Ser	missense variant	-	NC_000001.11:g.201325082T>C	TOPMed
rs746616460	p.Ser681Phe	missense variant	-	NC_000001.11:g.201325085C>T	ExAC,gnomAD
rs770433466	p.Ser682Asn	missense variant	-	NC_000001.11:g.201325088G>A	ExAC,TOPMed,gnomAD
rs770433466	p.Ser682Thr	missense variant	-	NC_000001.11:g.201325088G>C	ExAC,TOPMed,gnomAD
rs1329241993	p.Met684Thr	missense variant	-	NC_000001.11:g.201325094T>C	TOPMed
NCI-TCGA novel	p.Ile688ThrPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.201325105_201325111ATCATCA>-	NCI-TCGA
rs1483799747	p.Asn690His	missense variant	-	NC_000001.11:g.201325111A>C	gnomAD
rs775941545	p.Arg693Ter	stop gained	-	NC_000001.11:g.201325120C>T	ExAC,TOPMed,gnomAD
rs139909774	p.Arg693Gln	missense variant	-	NC_000001.11:g.201325121G>A	ESP,ExAC,TOPMed,gnomAD
rs764502250	p.Ser695Asn	missense variant	-	NC_000001.11:g.201325127G>A	ExAC,gnomAD
COSM6060557	p.Ala696Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.201325755G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro698Leu	missense variant	-	NC_000001.11:g.201325762C>T	NCI-TCGA
rs146324118	p.Lys699Met	missense variant	-	NC_000001.11:g.201325765A>T	ESP,ExAC,TOPMed,gnomAD
rs553668177	p.Ala701Thr	missense variant	-	NC_000001.11:g.201325770G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs553668177	p.Ala701Ser	missense variant	-	NC_000001.11:g.201325770G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs752583350	p.Glu702Asp	missense variant	-	NC_000001.11:g.201325775A>C	ExAC,gnomAD
rs1296476154	p.Ala703Thr	missense variant	-	NC_000001.11:g.201325776G>A	gnomAD
RCV000341479	p.Arg705Trp	missense variant	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201325782C>T	ClinVar
rs573352897	p.Arg705Gln	missense variant	-	NC_000001.11:g.201325783G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs61818256	p.Arg705Trp	missense variant	-	NC_000001.11:g.201325782C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs573352897	p.Arg705Leu	missense variant	-	NC_000001.11:g.201325783G>T	1000Genomes,ExAC,TOPMed,gnomAD
COSM4919084	p.Leu706Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.201325786T>C	NCI-TCGA Cosmic
rs780885568	p.Leu706Arg	missense variant	-	NC_000001.11:g.201325786T>G	ExAC,gnomAD
rs376796997	p.Ser709Pro	missense variant	-	NC_000001.11:g.201325794T>C	ESP,TOPMed
NCI-TCGA novel	p.Ser709Tyr	missense variant	-	NC_000001.11:g.201325795C>A	NCI-TCGA
rs1240215952	p.Met711Ile	missense variant	-	NC_000001.11:g.201325802G>A	TOPMed,gnomAD
rs1460695967	p.Trp712Leu	missense variant	-	NC_000001.11:g.201325804G>T	TOPMed
rs927887275	p.Ser713Phe	missense variant	-	NC_000001.11:g.201325807C>T	TOPMed
rs1441316536	p.Ser714Gly	missense variant	-	NC_000001.11:g.201325809A>G	gnomAD
NCI-TCGA novel	p.Leu717Arg	missense variant	-	NC_000001.11:g.201325819T>G	NCI-TCGA
rs1406966092	p.Gln718Arg	missense variant	-	NC_000001.11:g.201325822A>G	gnomAD
rs201628992	p.Gly719Asp	missense variant	-	NC_000001.11:g.201325825G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs142615612	p.Gly719Cys	missense variant	-	NC_000001.11:g.201325824G>T	1000Genomes
rs201628992	p.Gly719Val	missense variant	-	NC_000001.11:g.201325825G>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000379711	p.Gly719Asp	missense variant	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201325825G>A	ClinVar
rs769257959	p.Val720Ile	missense variant	-	NC_000001.11:g.201325827G>A	ExAC,gnomAD
rs753430088	p.Gln724Lys	missense variant	-	NC_000001.11:g.201328762C>A	ExAC,TOPMed,gnomAD
rs754442587	p.Gly725Ala	missense variant	-	NC_000001.11:g.201328766G>C	ExAC,TOPMed,gnomAD
rs1382339978	p.Asp727Gly	missense variant	-	NC_000001.11:g.201328772A>G	TOPMed
rs201180970	p.Asp727Asn	missense variant	-	NC_000001.11:g.201328771G>A	ExAC,TOPMed,gnomAD
rs778245527	p.Arg728Ser	missense variant	-	NC_000001.11:g.201328776G>C	ExAC,gnomAD
rs537966263	p.Arg728Lys	missense variant	-	NC_000001.11:g.201328775G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs537966263	p.Arg728Thr	missense variant	-	NC_000001.11:g.201328775G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs747259738	p.Asn729Tyr	missense variant	-	NC_000001.11:g.201328777A>T	ExAC,gnomAD
NCI-TCGA novel	p.Asn729Ser	missense variant	-	NC_000001.11:g.201328778A>G	NCI-TCGA
rs776683618	p.Met730Thr	missense variant	-	NC_000001.11:g.201328781T>C	ExAC,gnomAD
rs1449100844	p.Met730Ile	missense variant	-	NC_000001.11:g.201328782G>C	TOPMed
rs771231352	p.Met730Val	missense variant	-	NC_000001.11:g.201328780A>G	ExAC,gnomAD
rs551141144	p.Gly732Glu	missense variant	-	NC_000001.11:g.201328787G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1335340111	p.Thr733Ile	missense variant	-	NC_000001.11:g.201328790C>T	gnomAD
NCI-TCGA novel	p.Ala735Thr	missense variant	-	NC_000001.11:g.201328795G>A	NCI-TCGA
rs1020364365	p.Gly736Glu	missense variant	-	NC_000001.11:g.201328799G>A	TOPMed
rs774284273	p.Gly736Arg	missense variant	-	NC_000001.11:g.201328798G>A	ExAC,gnomAD
rs763900804	p.Ala737Thr	missense variant	-	NC_000001.11:g.201328801G>A	ExAC,TOPMed,gnomAD
rs571427409	p.Asn738Ser	missense variant	-	NC_000001.11:g.201328805A>G	1000Genomes,ExAC,gnomAD
rs571427409	p.Asn738Ile	missense variant	-	NC_000001.11:g.201328805A>T	1000Genomes,ExAC,gnomAD
rs769059123	p.Ser739ArgTerSerUnk	stop gained	-	NC_000001.11:g.201328808_201328809insGTGAAGTA	ExAC
rs766123431	p.Asn742Thr	missense variant	-	NC_000001.11:g.201328817A>C	ExAC,gnomAD
rs1347326771	p.Phe743Leu	missense variant	-	NC_000001.11:g.201328819T>C	gnomAD
rs753419598	p.Phe743Ser	missense variant	-	NC_000001.11:g.201328820T>C	ExAC,TOPMed,gnomAD
rs754535258	p.Thr744Ile	missense variant	-	NC_000001.11:g.201328823C>T	ExAC,TOPMed,gnomAD
rs531445602	p.Arg746Ter	stop gained	-	NC_000001.11:g.201328828C>T	ExAC,gnomAD
rs1488332347	p.Arg746Gln	missense variant	-	NC_000001.11:g.201328829G>A	TOPMed,gnomAD
rs1488332347	p.Arg746Pro	missense variant	-	NC_000001.11:g.201328829G>C	TOPMed,gnomAD
rs1384227595	p.Ter748Gln	stop lost	-	NC_000001.11:g.201328834T>C	TOPMed

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0002170	Alopecia	disease	HPO
C0004763	Barrett Esophagus	disease	BEFREE
C0005741	Blepharitis	disease	HPO
C0007137	Squamous cell carcinoma	disease	BEFREE;LHGDN
C0013575	Ectodermal Dysplasia	disease	BEFREE;HPO
C0014527	Epidermolysis Bullosa	disease	GENOMICS_ENGLAND
C0018799	Heart Diseases	group	BEFREE
C0020678	Hypotrichosis	disease	HPO
C0021051	Immunologic Deficiency Syndromes	group	HPO
C0022596	Palmoplantar Keratosis	disease	BEFREE;HPO
C0027339	Nail Diseases	group	HPO
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0030319	Panic Disorder	disease	GWASCAT;GWASDB
C0033578	Prostatic Neoplasms	group	BEFREE
C0033774	Pruritus	phenotype	HPO
C0037277	Skin Diseases, Genetic	group	BEFREE
C0037299	Skin Ulcer	phenotype	HPO
C0040412	Fissured tongue	disease	HPO
C0041834	Erythema	phenotype	HPO
C0151908	Dry skin	phenotype	HPO
C0162359	Christ-Siemens-Touraine syndrome	disease	BEFREE
C0202236	Triglycerides measurement	phenotype	GWASDB
C0231246	Failure to gain weight	phenotype	HPO
C0241181	Fragile skin	phenotype	HPO
C0259817	Xerosis	disease	HPO
C0279628	Adenocarcinoma Of Esophagus	disease	BEFREE
C0302180	Condyloma	disease	BEFREE
C0339063	Cellulitis of eyelid	disease	HPO
C0376358	Malignant neoplasm of prostate	disease	BEFREE
C0401151	Chronic diarrhea	disease	HPO
C0600139	Prostate carcinoma	disease	BEFREE
C0853087	Nail abnormality	phenotype	HPO
C0878544	Cardiomyopathies	group	BEFREE
C1275122	Familial multiple trichoepitheliomata	disease	BEFREE
C1843005	Absent eyelashes	phenotype	HPO
C1857276	Trichohepatoenteric Syndrome	disease	BEFREE
C1858302	Ectodermal dysplasia/ skin fragility syndrome	disease	BEFREE;CLINVAR;CTD_human;ORPHANET
C2239176	Liver carcinoma	disease	CTD_human
C2315100	Pediatric failure to thrive	disease	HPO
C3814530	Skin Vesicle	phenotype	HPO
C4011556	Abnormality of the eyebrow	phenotype	HPO
C4280626	Aplasia of eyelashes	phenotype	HPO
C4280627	Failure of development of eyelashes	phenotype	HPO
C4531021	Undergrowth	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005515	protein binding	IPI
GO:0005521	lamin binding	IDA
GO:0019215	intermediate filament binding	NAS
GO:0030280	structural constituent of skin epidermis	NAS
GO:0045296	cadherin binding	IBA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0007043	cell-cell junction assembly	IBA
GO:0007155	cell adhesion	NAS
GO:0007165	signal transduction	NAS
GO:0010628	positive regulation of gene expression	IMP
GO:0031424	keratinization	TAS
GO:0043312	neutrophil degranulation	TAS
GO:0045110	intermediate filament bundle assembly	IDA
GO:0045110	intermediate filament bundle assembly	IBA
GO:0070268	cornification	TAS
GO:0098609	cell-cell adhesion	IBA
GO:1902373	negative regulation of mRNA catabolic process	IMP

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0001533	cornified envelope	TAS
GO:0005634	nucleus	IBA
GO:0005634	nucleus	NAS
GO:0005654	nucleoplasm	IDA
GO:0005737	cytoplasm	IBA
GO:0005882	intermediate filament	TAS
GO:0005886	plasma membrane	IDA
GO:0005886	plasma membrane	IBA
GO:0005886	plasma membrane	TAS
GO:0005911	cell-cell junction	IBA
GO:0005912	adherens junction	IBA
GO:0030057	desmosome	NAS
GO:0101003	ficolin-1-rich granule membrane	TAS
GO:1990124	messenger ribonucleoprotein complex	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-109581	Apoptosis	TAS
R-HSA-111465	Apoptotic cleavage of cellular proteins	TAS
R-HSA-1266738	Developmental Biology	TAS
R-HSA-168249	Innate Immune System	TAS
R-HSA-168256	Immune System	TAS
R-HSA-351906	Apoptotic cleavage of cell adhesion proteins	TAS
R-HSA-5357801	Programmed Cell Death	TAS
R-HSA-6798695	Neutrophil degranulation	TAS
R-HSA-6805567	Keratinization	TAS
R-HSA-6809371	Formation of the cornified envelope	TAS
R-HSA-75153	Apoptotic execution phase	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
D015058	1-Naphthylisothiocyanate	1-Naphthylisothiocyanate results in increased expression of PKP1 mRNA	30723492
C070055	2,3',4,4',5-pentachlorobiphenyl	2,3',4,4',5-pentachlorobiphenyl results in increased expression of PKP1 mRNA	31388691
D015073	2-Acetylaminofluorene	2-Acetylaminofluorene results in increased expression of PKP1 mRNA	17317680
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in decreased expression of PKP1 mRNA	18648102
C496492	abrine	abrine results in decreased expression of PKP1 mRNA	22595364
D020106	Acrylamide	Acrylamide results in increased expression of PKP1 mRNA	28959563
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of PKP1 intron	30157460
C029753	aflatoxin B2	aflatoxin B2 results in increased methylation of PKP1 intron	30157460
D000535	Aluminum	[APP protein modified form binds to Aluminum] which results in increased expression of PKP1 mRNA	21298039
D018501	Antirheumatic Agents	Antirheumatic Agents results in increased expression of PKP1 mRNA	24449571
D000077237	Arsenic Trioxide	Arsenic Trioxide results in increased expression of PKP1 protein	25419056
D001564	Benzo(a)pyrene	Benzo(a)pyrene affects the methylation of PKP1 intron	30157460
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of PKP1 mRNA	31255691
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of PKP1 mRNA	22228805
C026487	benzo(e)pyrene	benzo(e)pyrene affects the methylation of PKP1 intron	30157460
C022921	benzo(k)fluoranthene	benzo(k)fluoranthene results in increased expression of PKP1 mRNA	26377693
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of PKP1 mRNA	30951980
C006780	bisphenol A	bisphenol A affects the expression of PKP1 mRNA	25181051
C006780	bisphenol A	bisphenol A results in increased methylation of PKP1 gene	28505145
C000611646	bisphenol F	bisphenol F results in increased expression of PKP1 mRNA	30951980
C018475	butyraldehyde	butyraldehyde results in increased expression of PKP1 mRNA	26079696
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of PKP1 mRNA	20938992
D003471	Cuprizone	Cuprizone results in decreased expression of PKP1 mRNA	26577399
D003907	Dexamethasone	Dexamethasone results in increased expression of PKP1 mRNA	22733784
C041517	dibenzo(a,l)pyrene	dibenzo(a,l)pyrene results in decreased expression of PKP1 mRNA	31255691
D003999	Dichloroacetic Acid	Dichloroacetic Acid results in increased expression of PKP1 mRNA	28962523
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in decreased expression of PKP1 mRNA	20920545
D004726	Endosulfan	Endosulfan results in decreased expression of PKP1 mRNA	29391264
D004958	Estradiol	Estradiol results in increased expression of PKP1 mRNA	19484750
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of PKP1 mRNA	20938992
D004397	Fonofos	Fonofos results in increased methylation of PKP1 promoter	22847954
C069837	fullerene C60	fullerene C60 results in decreased expression of PKP1 mRNA	19167457
C039281	furan	furan results in increased expression of PKP1 mRNA	27387713
C039281	furan	furan results in increased methylation of PKP1 gene	22079235
C545476	incobotulinumtoxinA	incobotulinumtoxinA results in decreased expression of PKP1 mRNA	29522793
D015474	Isotretinoin	Isotretinoin results in increased expression of PKP1 mRNA	20436886
C008261	lead acetate	lead acetate results in increased methylation of PKP1 gene	29571894
D008701	Methapyrilene	Methapyrilene affects the methylation of PKP1 intron	30157460
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of PKP1 mRNA	20938992
D008727	Methotrexate	Methotrexate results in decreased expression of PKP1 mRNA	24449571
C028007	nickel monoxide	nickel monoxide results in decreased expression of PKP1 mRNA	19167457
D010278	Parathion	Parathion results in increased methylation of PKP1 promoter	22847954
C046012	pentanal	pentanal results in decreased expression of PKP1 mRNA	26079696
C006253	pirinixic acid	pirinixic acid results in increased expression of PKP1 mRNA	20813756
C005556	propionaldehyde	propionaldehyde results in decreased expression of PKP1 mRNA	26079696
D011441	Propylthiouracil	Propylthiouracil affects the expression of PKP1 mRNA	24780913
C012568	terbufos	terbufos results in increased methylation of PKP1 promoter	22847954
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of PKP1 mRNA	23152189
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of PKP1 mRNA	21570461; 26377647;
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of PKP1 mRNA	17035482; 27562557;
D014635	Valproic Acid	Valproic Acid results in increased methylation of PKP1 gene	29154799

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0025	Alternative splicing
KW-0130	Cell adhesion
KW-0965	Cell junction
KW-0217	Developmental protein
KW-0038	Ectodermal dysplasia
KW-0539	Nucleus
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0677	Repeat

Interpro

InterPro ID	InterPro Term
IPR011989	ARM-like
IPR016024	ARM-type_fold
IPR000225	Armadillo
IPR028432	Plakophilin-1
IPR028435	Plakophilin/d_Catenin

PROSITE

PROSITE ID	PROSITE Term
PS50176	ARM_REPEAT

Pfam

Pfam ID	Pfam Term
PF00514	Arm

Gene: PKP1

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Identified variants/mutations related to cleft phenotype

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction