Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.39665697_39665698delinsGC	CA2259200556	TCAP	c.111-19_111-18delinsGC (n.111-19_111-18delinsGC)
17	g.39665697_39665699del	CA2637632483	TCAP	c.111-19_111-17del (n.111-19_111-17del)	gnomAD v4
17	g.39665698C>A	CA2637632488	TCAP	c.111-18C>A (n.111-18C>A)	gnomAD v4
17	g.39665698C=	CA2259200560	TCAP	c.111-18C= (n.111-18C=)
17	g.39665698C>G	CA626209134	TCAP	c.111-18C>G (n.111-18C>G)	dbSNP gnomAD v2 gnomAD v4
17	g.39665698C>T	CA2637632486	TCAP	c.111-18C>T (n.111-18C>T)	gnomAD v4
17	g.39665701dup	CA134913	TCAP	c.111-15dup (n.111-15dup)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.39665701del	CA626209133	TCAP	c.111-15del (n.111-15del)	dbSNP gnomAD v2 gnomAD v4
17	g.39665699C=	CA2259200561	TCAP	c.111-17C= (n.111-17C=)
17	g.39665699C>G	CA2637632489	TCAP	c.111-17C>G (n.111-17C>G)	gnomAD v4
17	g.39665699C>T	CA8532854	TCAP	c.111-17C>T (n.111-17C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.39665700C=	CA2259200563	TCAP	c.111-16C= (n.111-16C=)
17	g.39665700C>G	CA8532855	TCAP	c.111-16C>G (n.111-16C>G)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.39665700C>T	CA8532856	TCAP	c.111-16C>T (n.111-16C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.39665701C=	CA2259200565	TCAP	c.111-15C= (n.111-15C=)
17	g.39665701C>G	CA626209135	TCAP	c.111-15C>G (n.111-15C>G)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.39665701C>T	CA2580093659	TCAP	c.111-15C>T (n.111-15C>T)	ClinVar gnomAD v4
17	g.39665702T>A	CA290433933	TCAP	c.111-14T>A (n.111-14T>A)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.39665702T>C	CA2637632490	TCAP	c.111-14T>C (n.111-14T>C)	gnomAD v4
17	g.39665702T=	CA2259200567	TCAP	c.111-14T= (n.111-14T=)
17	g.39665703C>A	CA10645594	TCAP	c.111-13C>A (n.111-13C>A)	ClinVar dbSNP gnomAD v4
17	g.39665703C=	CA2259200569	TCAP	c.111-13C= (n.111-13C=)
17	g.39665703C>T	CA8532857	TCAP	c.111-13C>T (n.111-13C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.39665704_39665706del	CA2637632491	TCAP	c.111-12_111-10del (n.111-12_111-10del)	gnomAD v4
17	g.39665704C>A	CA2637632492	TCAP	c.111-12C>A (n.111-12C>A)	gnomAD v4
17	g.39665704C=	CA2259200572	TCAP	c.111-12C= (n.111-12C=)
17	g.39665704C>T	CA8532858	TCAP	c.111-12C>T (n.111-12C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.39665705C>A	CA2637632493	TCAP	c.111-11C>A (n.111-11C>A)	gnomAD v4
17	g.39665705C=	CA2259200573	TCAP	c.111-11C= (n.111-11C=)
17	g.39665705C>T	CA771858041	TCAP	c.111-11C>T (n.111-11C>T)	ClinVar dbSNP
17	g.39665706C>T	CA2637632494	TCAP	c.111-10C>T (n.111-10C>T)	gnomAD v4
17	g.39665707T>A	CA2637632496	TCAP	c.111-9T>A (n.111-9T>A)	gnomAD v4
17	g.39665707T>C	CA2637632495	TCAP	c.111-9T>C (n.111-9T>C)	gnomAD v4
17	g.39665708C>A	CA2637632497	TCAP	c.111-8C>A (n.111-8C>A)	gnomAD v4
17	g.39665708C>T	CA2637632498	TCAP	c.111-8C>T (n.111-8C>T)	gnomAD v4
17	g.39665710C=	CA2259200575	TCAP	c.111-6C= (n.111-6C=)
17	g.39665710C>T	CA290433946	TCAP	c.111-6C>T (n.111-6C>T)	dbSNP
17	g.39665713del	CA2637632499	TCAP	c.111-3del (n.111-3del)	gnomAD v4
17	g.39665712C>A	CA2637632500	TCAP	c.111-4C>A (n.111-4C>A)	gnomAD v4
17	g.39665712C=	CA2259200576	TCAP	c.111-4C= (n.111-4C=)
17	g.39665712C>G	CA2637632501	TCAP	c.111-4C>G (n.111-4C>G)	gnomAD v4
17	g.39665712C>T	CA771858058	TCAP	c.111-4C>T (n.111-4C>T)	dbSNP gnomAD v4
17	g.39665713C>A	CA2637632502	TCAP	c.111-3C>A (n.111-3C>A)	gnomAD v4
17	g.39665713C=	CA2259200577	TCAP	c.111-3C= (n.111-3C=)
17	g.39665713C>G	CA290433949	TCAP	c.111-3C>G (n.111-3C>G)	dbSNP
17	g.39665714A=	CA2259200579	TCAP	c.111-2A= (n.111-2A=)
17	g.39665714A>C	CA399303355	TCAP	c.111-2A>C (n.111-2A>C)
17	g.39665714A>G	CA290433951	TCAP	c.111-2A>G (n.111-2A>G)	dbSNP
17	g.39665714A>T	CA290433963	TCAP	c.111-2A>T (n.111-2A>T)	dbSNP
17	g.39665715G>A	CA399303363	TCAP	c.111-1G>A (n.111-1G>A)	gnomAD v4
17	g.39665715G>C	CA399303366	TCAP	c.111-1G>C (n.111-1G>C)	gnomAD v4
17	g.39665715G>T	CA399303369	TCAP	c.111-1G>T (n.111-1G>T)
17	g.39665716C>A	CA499888895	TCAP	c.111C>A (p.Gly37=)
17	g.39665716C=	CA2259200581	TCAP	c.111C= (p.Gly37=)
17	g.39665716C>G	CA499888896	TCAP	c.111C>G (p.Gly37=)	ClinVar dbSNP gnomAD v2
17	g.39665716C>T	CA499888897	TCAP	c.111C>T (p.Gly37=)	dbSNP gnomAD v2
17	g.39665717T>A	CA399303374	TCAP	c.112T>A (p.Cys38Ser)
17	g.39665717T>C	CA399303376	TCAP	c.112T>C (p.Cys38Arg)
17	g.39665717T>G	CA399303379	TCAP	c.112T>G (p.Cys38Gly)
17	g.39665718G>A	CA8532859	TCAP	c.113G>A (p.Cys38Tyr)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.39665718G>C	CA399303386	TCAP	c.113G>C (p.Cys38Ser)
17	g.39665718G=	CA2259200584	TCAP	c.113G= (p.Cys38=)
17	g.39665718G>T	CA308835	TCAP	c.113G>T (p.Cys38Phe)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.39665719C>A	CA399303391	TCAP	c.114C>A (p.Cys38Ter)	gnomAD v4
17	g.39665719C>G	CA399303394	TCAP	c.114C>G (p.Cys38Trp)
17	g.39665719C>T	CA499888903	TCAP	c.114C>T (p.Cys38=)	gnomAD v4
17	g.39665720T>A	CA399303399	TCAP	c.115T>A (p.Ser39Thr)
17	g.39665720T>C	CA399303402	TCAP	c.115T>C (p.Ser39Pro)
17	g.39665720T>G	CA399303400	TCAP	c.115T>G (p.Ser39Ala)
17	g.39665721C>A	CA399303406	TCAP	c.116C>A (p.Ser39Tyr)	gnomAD v4
17	g.39665721C=	CA2259200587	TCAP	c.116C= (p.Ser39=)
17	g.39665721C>G	CA399303407	TCAP	c.116C>G (p.Ser39Cys)	ClinVar dbSNP
17	g.39665721C>T	CA399303410	TCAP	c.116C>T (p.Ser39Phe)
17	g.39665722C>A	CA499888909	TCAP	c.117C>A (p.Ser39=)	gnomAD v4
17	g.39665722C=	CA2259200588	TCAP	c.117C= (p.Ser39=)
17	g.39665722C>G	CA499888911	TCAP	c.117C>G (p.Ser39=)	dbSNP gnomAD v2 gnomAD v4
17	g.39665722C>T	CA8532860	TCAP	c.117C>T (p.Ser39=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.39665723C>A	CA399303417	TCAP	c.118C>A (p.Leu40Met)	gnomAD v4
17	g.39665723C=	CA2259200590	TCAP	c.118C= (p.Leu40=)
17	g.39665723C>G	CA399303419	TCAP	c.118C>G (p.Leu40Val)	dbSNP gnomAD v2 gnomAD v4
17	g.39665723C>T	CA10605509	TCAP	c.118C>T (p.Leu40=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.39665724T>A	CA399303437	TCAP	c.119T>A (p.Leu40Gln)
17	g.39665724T>C	CA399303440	TCAP	c.119T>C (p.Leu40Pro)	gnomAD v4
17	g.39665724T>G	CA399303442	TCAP	c.119T>G (p.Leu40Arg)
17	g.39665724T=	CA2259200593	TCAP	c.119T= (p.Leu40=)
17	g.39665725G>A	CA499888920	TCAP	c.120G>A (p.Leu40=)	gnomAD v4
17	g.39665725G>C	CA499888921	TCAP	c.120G>C (p.Leu40=)
17	g.39665725G=	CA2259200594	TCAP	c.120G= (p.Leu40=)
17	g.39665725G>T	CA499888917	TCAP	c.120G>T (p.Leu40=)	gnomAD v4
17	g.39665725_39665745dup	CA983629406	TCAP	c.120_140dup (p.Arg47_His48insHisGluGluAspThrGlnArg)	dbSNP gnomAD v3 gnomAD v4
17	g.39665726C>A	CA399303446	TCAP	c.121C>A (p.His41Asn)
17	g.39665726C=	CA2259200595	TCAP	c.121C= (p.His41=)
17	g.39665726C>G	CA399303449	TCAP	c.121C>G (p.His41Asp)
17	g.39665726C>T	CA399303452	TCAP	c.121C>T (p.His41Tyr)	dbSNP gnomAD v2 gnomAD v4
17	g.39665726_39665727insTC	CA626209136	TCAP	c.121_122insTC (p.His41LeufsTer28) c.121_122insTC (p.His41LeufsTer?)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.39665727A=	CA2259200596	TCAP	c.122A= (p.His41=)
17	g.39665727A>C	CA399303465	TCAP	c.122A>C (p.His41Pro)	gnomAD v4
17	g.39665727A>G	CA399303468	TCAP	c.122A>G (p.His41Arg)	ClinVar dbSNP gnomAD v4
17	g.39665727A>T	CA399303467	TCAP	c.122A>T (p.His41Leu)
17	g.39665728T>A	CA399303470	TCAP	c.123T>A (p.His41Gln)
17	g.39665728T>C	CA499888925	TCAP	c.123T>C (p.His41=)
17	g.39665728T>G	CA399303473	TCAP	c.123T>G (p.His41Gln)
17	g.39665728_39665730delinsTGA	CA2259200597	TCAP	c.123_125delinsTGA (p.His41=)
17	g.39665728_39665731delinsTGAG	CA2259200598	TCAP	c.123_126delinsTGAG (p.His41=)
17	g.39665729G>A	CA399303478	TCAP	c.124G>A (p.Glu42Lys)	gnomAD v4
17	g.39665729G>C	CA399303480	TCAP	c.124G>C (p.Glu42Gln)
17	g.39665729G>T	CA399303485	TCAP	c.124G>T (p.Glu42Ter)
17	g.39665730_39665731del	CA626209137	TCAP	c.125_126del (p.Glu42GlyfsTer7)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.39665734_39665736del	CA626209138	TCAP	c.129_131del (p.Glu43del)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.39665730A>C	CA399303489	TCAP	c.125A>C (p.Glu42Ala)
17	g.39665730A>G	CA399303492	TCAP	c.125A>G (p.Glu42Gly)
17	g.39665730A>T	CA399303494	TCAP	c.125A>T (p.Glu42Val)
17	g.39665731G>A	CA499888926	TCAP	c.126G>A (p.Glu42=)
17	g.39665731G>C	CA399303498	TCAP	c.126G>C (p.Glu42Asp)
17	g.39665731G=	CA2259200600	TCAP	c.126G= (p.Glu42=)
17	g.39665731G>T	CA399303501	TCAP	c.126G>T (p.Glu42Asp)	dbSNP
17	g.39665732G>A	CA399303514	TCAP	c.127G>A (p.Glu43Lys)	ClinVar dbSNP gnomAD v4
17	g.39665732G>C	CA399303512	TCAP	c.127G>C (p.Glu43Gln)	dbSNP gnomAD v2 gnomAD v4
17	g.39665732G=	CA2259200602	TCAP	c.127G= (p.Glu43=)
17	g.39665732G>T	CA399303510	TCAP	c.127G>T (p.Glu43Ter)
17	g.39665733A>C	CA399303517	TCAP	c.128A>C (p.Glu43Ala)
17	g.39665733A>G	CA399303522	TCAP	c.128A>G (p.Glu43Gly)
17	g.39665733A>T	CA399303519	TCAP	c.128A>T (p.Glu43Val)
17	g.39665734G>A	CA499888930	TCAP	c.129G>A (p.Glu43=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.39665734G>C	CA399303525	TCAP	c.129G>C (p.Glu43Asp)
17	g.39665734G=	CA2259200604	TCAP	c.129G= (p.Glu43=)
17	g.39665734G>T	CA399303527	TCAP	c.129G>T (p.Glu43Asp)
17	g.39665735G>A	CA399303530	TCAP	c.130G>A (p.Asp44Asn)	ClinVar
17	g.39665735G>C	CA399303531	TCAP	c.130G>C (p.Asp44His)
17	g.39665735G>T	CA399303532	TCAP	c.130G>T (p.Asp44Tyr)	gnomAD v4
17	g.39665736A>C	CA399303533	TCAP	c.131A>C (p.Asp44Ala)
17	g.39665736A>G	CA399303536	TCAP	c.131A>G (p.Asp44Gly)
17	g.39665736A>T	CA399303538	TCAP	c.131A>T (p.Asp44Val)
17	g.39665737C>A	CA399303540	TCAP	c.132C>A (p.Asp44Glu)
17	g.39665737C=	CA2259200609	TCAP	c.132C= (p.Asp44=)
17	g.39665737C>G	CA399303541	TCAP	c.132C>G (p.Asp44Glu)
17	g.39665737C>T	CA134914	TCAP	c.132C>T (p.Asp44=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.39665738A>C	CA399303557	TCAP	c.133A>C (p.Thr45Pro)
17	g.39665738A>G	CA399303552	TCAP	c.133A>G (p.Thr45Ala)
17	g.39665738A>T	CA399303554	TCAP	c.133A>T (p.Thr45Ser)
17	g.39665739C>A	CA399303564	TCAP	c.134C>A (p.Thr45Asn)
17	g.39665739C=	CA2259200610	TCAP	c.134C= (p.Thr45=)
17	g.39665739C>G	CA399303567	TCAP	c.134C>G (p.Thr45Ser)
17	g.39665739C>T	CA399303570	TCAP	c.134C>T (p.Thr45Ile)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.39665740C>A	CA499888935	TCAP	c.135C>A (p.Thr45=)	dbSNP
17	g.39665740C=	CA2259200611	TCAP	c.135C= (p.Thr45=)
17	g.39665740C>G	CA499888936	TCAP	c.135C>G (p.Thr45=)	gnomAD v4
17	g.39665740C>T	CA499888937	TCAP	c.135C>T (p.Thr45=)	gnomAD v4
17	g.39665740_39665742delinsCCA	CA2259200612	TCAP	c.135_137delinsCCA (p.Thr45=)
17	g.39665741C>A	CA399303574	TCAP	c.136C>A (p.Gln46Lys)	gnomAD v4
17	g.39665741C=	CA2259200613	TCAP	c.136C= (p.Gln46=)
17	g.39665741C>G	CA399303578	TCAP	c.136C>G (p.Gln46Glu)	dbSNP
17	g.39665741C>T	CA399303582	TCAP	c.136C>T (p.Gln46Ter)
17	g.39665741_39665742del	CA916080659	TCAP	c.136_137del (p.Gln46GlufsTer3)	ClinVar dbSNP
17	g.39665742A=	CA2259200614	TCAP	c.137A= (p.Gln46=)
17	g.39665742A>C	CA399303585	TCAP	c.137A>C (p.Gln46Pro)
17	g.39665742A>G	CA399303587	TCAP	c.137A>G (p.Gln46Arg)	ClinVar dbSNP gnomAD v4
17	g.39665742A>T	CA399303592	TCAP	c.137A>T (p.Gln46Leu)
17	g.39665743G>A	CA499888942	TCAP	c.138G>A (p.Gln46=)
17	g.39665743G>C	CA399303596	TCAP	c.138G>C (p.Gln46His)
17	g.39665743G>T	CA399303598	TCAP	c.138G>T (p.Gln46His)
17	g.39665744A=	CA2259200615	TCAP	c.139A= (p.Arg47=)
17	g.39665744A>C	CA8532861	TCAP	c.139A>C (p.Arg47=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.39665744A>G	CA399303608	TCAP	c.139A>G (p.Arg47Gly)
17	g.39665744A>T	CA399303605	TCAP	c.139A>T (p.Arg47Ter)
17	g.39665745G>A	CA399303612	TCAP	c.140G>A (p.Arg47Lys)	COSMIC
17	g.39665745G>C	CA399303613	TCAP	c.140G>C (p.Arg47Thr)
17	g.39665745G=	CA2259200616	TCAP	c.140G= (p.Arg47=)
17	g.39665745G>T	CA399303614	TCAP	c.140G>T (p.Arg47Ile)	dbSNP
17	g.39665746A=	CA2259200617	TCAP	c.141A= (p.Arg47=)
17	g.39665746A>C	CA399303616	TCAP	c.141A>C (p.Arg47Ser)
17	g.39665746A>G	CA499888946	TCAP	c.141A>G (p.Arg47=)	dbSNP
17	g.39665746A>T	CA399303617	TCAP	c.141A>T (p.Arg47Ser)
17	g.39665747C>A	CA399303620	TCAP	c.142C>A (p.His48Asn)
17	g.39665747C>G	CA399303623	TCAP	c.142C>G (p.His48Asp)
17	g.39665747C>T	CA399303627	TCAP	c.142C>T (p.His48Tyr)
17	g.39665748A=	CA2259200618	TCAP	c.143A= (p.His48=)
17	g.39665748A>C	CA399303632	TCAP	c.143A>C (p.His48Pro)
17	g.39665748A>G	CA8532862	TCAP	c.143A>G (p.His48Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.39665748A>T	CA399303637	TCAP	c.143A>T (p.His48Leu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.39665749T>A	CA399303641	TCAP	c.144T>A (p.His48Gln)	gnomAD v4
17	g.39665749T>C	CA499888954	TCAP	c.144T>C (p.His48=)	dbSNP gnomAD v3 gnomAD v4
17	g.39665749T>G	CA399303647	TCAP	c.144T>G (p.His48Gln)	gnomAD v4
17	g.39665749T=	CA2259200620	TCAP	c.144T= (p.His48=)
17	g.39665750G>A	CA8532863	TCAP	c.145G>A (p.Glu49Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.39665750G>C	CA399303657	TCAP	c.145G>C (p.Glu49Gln)
17	g.39665750G=	CA2259200623	TCAP	c.145G= (p.Glu49=)
17	g.39665750G>T	CA399303653	TCAP	c.145G>T (p.Glu49Ter)	COSMIC
17	g.39665751A=	CA2259200625	TCAP	c.146A= (p.Glu49=)
17	g.39665751A>C	CA399303672	TCAP	c.146A>C (p.Glu49Ala)
17	g.39665751A>G	CA290433983	TCAP	c.146A>G (p.Glu49Gly)	dbSNP
17	g.39665751A>T	CA399303677	TCAP	c.146A>T (p.Glu49Val)
17	g.39665752G>A	CA499888956	TCAP	c.147G>A (p.Glu49=)
17	g.39665752G>C	CA399303680	TCAP	c.147G>C (p.Glu49Asp)
17	g.39665752G>T	CA399303684	TCAP	c.147G>T (p.Glu49Asp)
17	g.39665752_39665756delinsGACCT	CA2259200626	TCAP	c.147_151delinsGACCT (p.Glu49=)
17	g.39665753A=	CA2259200627	TCAP	c.148A= (p.Thr50=)
17	g.39665753A>C	CA399303689	TCAP	c.148A>C (p.Thr50Pro)
17	g.39665753A>G	CA399303692	TCAP	c.148A>G (p.Thr50Ala)	ClinVar dbSNP gnomAD v4
17	g.39665753A>T	CA399303697	TCAP	c.148A>T (p.Thr50Ser)
17	g.39665756_39665759del	CA983629449	TCAP	c.151_154del (p.Tyr51ThrfsTer16) c.151_154del (p.Tyr51ThrfsTer?)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.39665754C>A	CA399303701	TCAP	c.149C>A (p.Thr50Asn)
17	g.39665754C=	CA2259200628	TCAP	c.149C= (p.Thr50=)
17	g.39665754C>G	CA399303704	TCAP	c.149C>G (p.Thr50Ser)
17	g.39665754C>T	CA399303708	TCAP	c.149C>T (p.Thr50Ile)	dbSNP
17	g.39665755C>A	CA499888962	TCAP	c.150C>A (p.Thr50=)	gnomAD v4
17	g.39665755C>G	CA499888963	TCAP	c.150C>G (p.Thr50=)
17	g.39665755C>T	CA499888961	TCAP	c.150C>T (p.Thr50=)
17	g.39665756T>A	CA399303717	TCAP	c.151T>A (p.Tyr51Asn)
17	g.39665756T>C	CA8532864	TCAP	c.151T>C (p.Tyr51His)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.39665756T>G	CA399303722	TCAP	c.151T>G (p.Tyr51Asp)
17	g.39665756T=	CA2259200630	TCAP	c.151T= (p.Tyr51=)
17	g.39665757A=	CA2259200633	TCAP	c.152A= (p.Tyr51=)
17	g.39665757A>C	CA399303736	TCAP	c.152A>C (p.Tyr51Ser)	dbSNP
17	g.39665757A>G	CA399303733	TCAP	c.152A>G (p.Tyr51Cys)	gnomAD v4
17	g.39665757A>T	CA8532865	TCAP	c.152A>T (p.Tyr51Phe)	dbSNP ExAC
17	g.39665757_39665758insAA	CA2637632568	TCAP	c.152_153insAA (p.Tyr51Ter)	gnomAD v4
17	g.39665758C>A	CA8532866	TCAP	c.153C>A (p.Tyr51Ter)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.39665758C=	CA2259200636	TCAP	c.153C= (p.Tyr51=)
17	g.39665758C>G	CA399303739	TCAP	c.153C>G (p.Tyr51Ter)
17	g.39665758C>T	CA499889081	TCAP	c.153C>T (p.Tyr51=)
17	g.39665759C>A	CA399303751	TCAP	c.154C>A (p.His52Asn)
17	g.39665759C=	CA2259200638	TCAP	c.154C= (p.His52=)
17	g.39665759C>G	CA8532867	TCAP	c.154C>G (p.His52Asp)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.39665759C>T	CA399303759	TCAP	c.154C>T (p.His52Tyr)
17	g.39665760A=	CA2259200641	TCAP	c.155A= (p.His52=)
17	g.39665760A>C	CA399303763	TCAP	c.155A>C (p.His52Pro)
17	g.39665760A>G	CA399303768	TCAP	c.155A>G (p.His52Arg)	dbSNP gnomAD v2 gnomAD v4
17	g.39665760A>T	CA399303765	TCAP	c.155A>T (p.His52Leu)
17	g.39665761C>A	CA399303770	TCAP	c.156C>A (p.His52Gln)	gnomAD v4
17	g.39665761C>G	CA399303773	TCAP	c.156C>G (p.His52Gln)
17	g.39665761C>T	CA499889082	TCAP	c.156C>T (p.His52=)	gnomAD v4
17	g.39665762C>A	CA399303779	TCAP	c.157C>A (p.Gln53Lys)	gnomAD v4 COSMIC
17	g.39665762C=	CA2259200643	TCAP	c.157C= (p.Gln53=)
17	g.39665762C>G	CA399303781	TCAP	c.157C>G (p.Gln53Glu)
17	g.39665762C>T	CA117567	TCAP	c.157C>T (p.Gln53Ter)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.39665763A=	CA2259200645	TCAP	c.158A= (p.Gln53=)
17	g.39665763A>C	CA399303786	TCAP	c.158A>C (p.Gln53Pro)
17	g.39665763A>G	CA399303788	TCAP	c.158A>G (p.Gln53Arg)	dbSNP
17	g.39665763A>T	CA399303790	TCAP	c.158A>T (p.Gln53Leu)
17	g.39665764G>A	CA499889083	TCAP	c.159G>A (p.Gln53=)
17	g.39665764G>C	CA399303794	TCAP	c.159G>C (p.Gln53His)
17	g.39665764G>T	CA399303797	TCAP	c.159G>T (p.Gln53His)	gnomAD v4
17	g.39665765C>A	CA399303807	TCAP	c.160C>A (p.Gln54Lys)	gnomAD v4
17	g.39665765C>G	CA399303806	TCAP	c.160C>G (p.Gln54Glu)
17	g.39665765C>T	CA399303804	TCAP	c.160C>T (p.Gln54Ter)
17	g.39665766A=	CA2259200647	TCAP	c.161A= (p.Gln54=)
17	g.39665766A>C	CA399303808	TCAP	c.161A>C (p.Gln54Pro)
17	g.39665766A>G	CA399303809	TCAP	c.161A>G (p.Gln54Arg)
17	g.39665766A>T	CA399303810	TCAP	c.161A>T (p.Gln54Leu)
17	g.39665767G>A	CA499889084	TCAP	c.162G>A (p.Gln54=)	gnomAD v4
17	g.39665767G>C	CA399303813	TCAP	c.162G>C (p.Gln54His)
17	g.39665767G>T	CA399303818	TCAP	c.162G>T (p.Gln54His)
17	g.39665770dup	CA2259200650	TCAP	c.165dup (p.Gln56AlafsTer?) c.165dup (p.Gln56AlafsTer28)	dbSNP
17	g.39665769_39665786dup	CA626209139	TCAP	c.164_181dup (p.Leu60_Val61insGlyGlnCysGlnValLeu) c.164_174+7dup	dbSNP gnomAD v2 gnomAD v4
17	g.39665768G>A	CA399303820	TCAP	c.163G>A (p.Gly55Arg)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.39665768G>C	CA399303822	TCAP	c.163G>C (p.Gly55Arg)	gnomAD v4
17	g.39665768G=	CA2259200653	TCAP	c.163G= (p.Gly55=)
17	g.39665768G>T	CA399303832	TCAP	c.163G>T (p.Gly55Trp)
17	g.39665769G>A	CA399303835	TCAP	c.164G>A (p.Gly55Glu)
17	g.39665769G>C	CA399303837	TCAP	c.164G>C (p.Gly55Ala)
17	g.39665769G>T	CA399303839	TCAP	c.164G>T (p.Gly55Val)	gnomAD v4
17	g.39665770G>A	CA290433989	TCAP	c.165G>A (p.Gly55=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.39665770G>C	CA499889085	TCAP	c.165G>C (p.Gly55=)	ClinVar dbSNP gnomAD v4
17	g.39665770G=	CA2259200654	TCAP	c.165G= (p.Gly55=)
17	g.39665770G>T	CA499889086	TCAP	c.165G>T (p.Gly55=)
17	g.39665771C>A	CA399303852	TCAP	c.166C>A (p.Gln56Lys)
17	g.39665771C=	CA2259200657	TCAP	c.166C= (p.Gln56=)
17	g.39665771C>G	CA399303850	TCAP	c.166C>G (p.Gln56Glu)
17	g.39665771C>T	CA399303846	TCAP	c.166C>T (p.Gln56Ter)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.39665772A>C	CA399303854	TCAP	c.167A>C (p.Gln56Pro)	gnomAD v4
17	g.39665772A>G	CA399303856	TCAP	c.167A>G (p.Gln56Arg)	gnomAD v4
17	g.39665772A>T	CA399303858	TCAP	c.167A>T (p.Gln56Leu)
17	g.39665773G>A	CA16615340	TCAP	c.168G>A (p.Gln56=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.39665773G>C	CA399303860	TCAP	c.168G>C (p.Gln56His)
17	g.39665773G=	CA2259200660	TCAP	c.168G= (p.Gln56=)
17	g.39665773G>T	CA399303864	TCAP	c.168G>T (p.Gln56His)
17	g.39665774T>A	CA399303867	TCAP	c.169T>A (p.Cys57Ser)
17	g.39665774T>C	CA10604666	TCAP	c.169T>C (p.Cys57Arg)	ClinVar dbSNP gnomAD v4
17	g.39665774T>G	CA399303870	TCAP	c.169T>G (p.Cys57Gly)
17	g.39665774T=	CA2259200667	TCAP	c.169T= (p.Cys57=)
17	g.39665775G>A	CA8532868	TCAP	c.170G>A (p.Cys57Tyr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.39665775G>C	CA399303875	TCAP	c.170G>C (p.Cys57Ser)
17	g.39665775G=	CA2259200678	TCAP	c.170G= (p.Cys57=)
17	g.39665775G>T	CA399303878	TCAP	c.170G>T (p.Cys57Phe)
17	g.39665776C>A	CA290433996	TCAP	c.171C>A (p.Cys57Ter)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.39665776C=	CA2259200683	TCAP	c.171C= (p.Cys57=)
17	g.39665776C>G	CA8532869	TCAP	c.171C>G (p.Cys57Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.39665776C>T	CA499889087	TCAP	c.171C>T (p.Cys57=)	dbSNP
17	g.39665777C>A	CA399303884	TCAP	c.172C>A (p.Gln58Lys)	gnomAD v4
17	g.39665777C>G	CA399303887	TCAP	c.172C>G (p.Gln58Glu)	ClinVar gnomAD v4
17	g.39665777C>T	CA399303885	TCAP	c.172C>T (p.Gln58Ter)
17	g.39665778A=	CA2259200687	TCAP	c.173A= (p.Gln58=)
17	g.39665778A>C	CA399303892	TCAP	c.173A>C (p.Gln58Pro)
17	g.39665778A>G	CA399303895	TCAP	c.173A>G (p.Gln58Arg)	dbSNP
17	g.39665778A>T	CA399303897	TCAP	c.173A>T (p.Gln58Leu)
17	g.39665779G>A	CA499889088	TCAP	c.174G>A (p.Gln58=)
17	g.39665779G>C	CA399303903	TCAP	c.174G>C (p.Gln58His)
17	g.39665779G>T	CA399303910	TCAP	c.174G>T (p.Gln58His)
17	g.39665780G>A	CA16620401	TCAP	c.175G>A (p.Val59Met) c.174+1G>A (n.174+1G>A)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.39665780G>C	CA399303914	TCAP	c.175G>C (p.Val59Leu) c.174+1G>C (n.174+1G>C)
17	g.39665780G=	CA2259200692	TCAP	c.175G= (p.Val59=) c.174+1G= (n.174+1G=)
17	g.39665780G>T	CA399303915	TCAP	c.175G>T (p.Val59Leu) c.174+1G>T (n.174+1G>T)	gnomAD v4
17	g.39665781T>A	CA399303917	TCAP	c.176T>A (p.Val59Glu) c.174+2T>A (n.174+2T>A)
17	g.39665781T>C	CA399303919	TCAP	c.176T>C (p.Val59Ala) c.174+2T>C (n.174+2T>C)	dbSNP COSMIC
17	g.39665781T>G	CA399303920	TCAP	c.176T>G (p.Val59Gly) c.174+2T>G (n.174+2T>G)
17	g.39665781T=	CA2259200697	TCAP	c.176T= (p.Val59=) c.174+2T= (n.174+2T=)
17	g.39665782G>A	CA499889089	TCAP	c.177G>A (p.Val59=) c.174+3G>A (n.174+3G>A)	gnomAD v4
17	g.39665782G>C	CA499889090	TCAP	c.177G>C (p.Val59=) c.174+3G>C (n.174+3G>C)	dbSNP
17	g.39665782G=	CA2259200700	TCAP	c.177G= (p.Val59=) c.174+3G= (n.174+3G=)
17	g.39665782G>T	CA499889091	TCAP	c.177G>T (p.Val59=) c.174+3G>T (n.174+3G>T)
17	g.39665783C>A	CA399303925	TCAP	c.178C>A (p.Leu60Met) c.174+4C>A (n.174+4C>A)	gnomAD v4
17	g.39665783C=	CA2259200703	TCAP	c.178C= (p.Leu60=) c.174+4C= (n.174+4C=)
17	g.39665783C>G	CA399303926	TCAP	c.178C>G (p.Leu60Val) c.174+4C>G (n.174+4C>G)	ClinVar dbSNP gnomAD v4
17	g.39665783C>T	CA8532870	TCAP	c.178C>T (p.Leu60=) c.174+4C>T (n.174+4C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.39665784T>A	CA399303927	TCAP	c.179T>A (p.Leu60Gln) c.174+5T>A (n.174+5T>A)
17	g.39665784T>C	CA399303928	TCAP	c.179T>C (p.Leu60Pro) c.174+5T>C (n.174+5T>C)
17	g.39665784T>G	CA399303931	TCAP	c.179T>G (p.Leu60Arg) c.174+5T>G (n.174+5T>G)
17	g.39665785G>A	CA499889093	TCAP	c.180G>A (p.Leu60=) c.174+6G>A (n.174+6G>A)
17	g.39665785G>C	CA499889092	TCAP	c.180G>C (p.Leu60=) c.174+6G>C (n.174+6G>C)
17	g.39665785G>T	CA499889094	TCAP	c.180G>T (p.Leu60=) c.174+6G>T (n.174+6G>T)	gnomAD v4
17	g.39665786G>A	CA399303933	TCAP	c.181G>A (p.Val61Met) c.174+7G>A (n.174+7G>A)
17	g.39665786G>C	CA399303937	TCAP	c.181G>C (p.Val61Leu) c.174+7G>C (n.174+7G>C)
17	g.39665786G>T	CA399303941	TCAP	c.181G>T (p.Val61Leu) c.174+7G>T (n.174+7G>T)	gnomAD v4
17	g.39665787T>A	CA399303944	TCAP	c.182T>A (p.Val61Glu) c.174+8T>A (n.174+8T>A)
17	g.39665787T>C	CA399303947	TCAP	c.182T>C (p.Val61Ala) c.174+8T>C (n.174+8T>C)
17	g.39665787T>G	CA399303948	TCAP	c.182T>G (p.Val61Gly) c.174+8T>G (n.174+8T>G)
17	g.39665788G>A	CA499889095	TCAP	c.183G>A (p.Val61=) c.174+9G>A (n.174+9G>A)	dbSNP
17	g.39665788G>C	CA499889096	TCAP	c.183G>C (p.Val61=) c.174+9G>C (n.174+9G>C)
17	g.39665788G=	CA2259200706	TCAP	c.183G= (p.Val61=) c.174+9G= (n.174+9G=)
17	g.39665788G>T	CA499889097	TCAP	c.183G>T (p.Val61=) c.174+9G>T (n.174+9G>T)
17	g.39665789C>A	CA399303952	TCAP	c.184C>A (p.Gln62Lys) c.174+10C>A (n.174+10C>A)
17	g.39665789C>G	CA399303956	TCAP	c.184C>G (p.Gln62Glu) c.174+10C>G (n.174+10C>G)
17	g.39665789C>T	CA399303960	TCAP	c.184C>T (p.Gln62Ter) c.174+10C>T (n.174+10C>T)	ClinVar gnomAD v4
17	g.39665790A>C	CA399303965	TCAP	c.185A>C (p.Gln62Pro) c.174+11A>C (n.174+11A>C)
17	g.39665790A>G	CA399303968	TCAP	c.185A>G (p.Gln62Arg) c.174+11A>G (n.174+11A>G)	gnomAD v4
17	g.39665790A>T	CA399303969	TCAP	c.185A>T (p.Gln62Leu) c.174+11A>T (n.174+11A>T)
17	g.39665791G>A	CA499889098	TCAP	c.186G>A (p.Gln62=) c.174+12G>A (n.174+12G>A)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.39665791G>C	CA399303970	TCAP	c.186G>C (p.Gln62His) c.174+12G>C (n.174+12G>C)
17	g.39665791G=	CA2259200709	TCAP	c.186G= (p.Gln62=) c.174+12G= (n.174+12G=)
17	g.39665791G>T	CA399303971	TCAP	c.186G>T (p.Gln62His) c.174+12G>T (n.174+12G>T)
17	g.39665792C>A	CA399303972	TCAP	c.187C>A (p.Arg63Ser) c.174+13C>A (n.174+13C>A)	gnomAD v4
17	g.39665792C=	CA2259200713	TCAP	c.187C= (p.Arg63=) c.174+13C= (n.174+13C=)
17	g.39665792C>G	CA399303974	TCAP	c.187C>G (p.Arg63Gly) c.174+13C>G (n.174+13C>G)
17	g.39665792C>T	CA8532871	TCAP	c.187C>T (p.Arg63Cys) c.174+13C>T (n.174+13C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.39665793G>A	CA8532872	TCAP	c.188G>A (p.Arg63His) c.174+14G>A (n.174+14G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.39665793G>C	CA399303989	TCAP	c.188G>C (p.Arg63Pro) c.174+14G>C (n.174+14G>C)
17	g.39665793G=	CA2259200717	TCAP	c.188G= (p.Arg63=) c.174+14G= (n.174+14G=)
17	g.39665793G>T	CA399303996	TCAP	c.188G>T (p.Arg63Leu) c.174+14G>T (n.174+14G>T)
17	g.39665794C>A	CA499889099	TCAP	c.189C>A (p.Arg63=) c.174+15C>A (n.174+15C>A)
17	g.39665794C=	CA2259200719	TCAP	c.189C= (p.Arg63=) c.174+15C= (n.174+15C=)
17	g.39665794C>G	CA499889100	TCAP	c.189C>G (p.Arg63=) c.174+15C>G (n.174+15C>G)
17	g.39665794C>T	CA499889101	TCAP	c.189C>T (p.Arg63=) c.174+15C>T (n.174+15C>T)	dbSNP gnomAD v3 gnomAD v4
17	g.39665795T>A	CA399304001	TCAP	c.190T>A (p.Ser64Thr) c.174+16T>A (n.174+16T>A)	gnomAD v4
17	g.39665795T>C	CA399304004	TCAP	c.190T>C (p.Ser64Pro) c.174+16T>C (n.174+16T>C)	gnomAD v4
17	g.39665795T>G	CA399304008	TCAP	c.190T>G (p.Ser64Ala) c.174+16T>G (n.174+16T>G)
17	g.39665796C>A	CA399304018	TCAP	c.191C>A (p.Ser64Ter) c.174+17C>A (n.174+17C>A)
17	g.39665796C=	CA2259200722	TCAP	c.191C= (p.Ser64=) c.174+17C= (n.174+17C=)
17	g.39665796C>G	CA399304021	TCAP	c.191C>G (p.Ser64Trp) c.174+17C>G (n.174+17C>G)
17	g.39665796C>T	CA282448	TCAP	c.191C>T (p.Ser64Leu) c.174+17C>T (n.174+17C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.39665797G>A	CA8532873	TCAP	c.192G>A (p.Ser64=) c.174+18G>A (n.174+18G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.39665797G>C	CA499889103	TCAP	c.192G>C (p.Ser64=) c.174+18G>C (n.174+18G>C)	dbSNP
17	g.39665797G=	CA2259200730	TCAP	c.192G= (p.Ser64=) c.174+18G= (n.174+18G=)
17	g.39665797G>T	CA499889102	TCAP	c.192G>T (p.Ser64=) c.174+18G>T (n.174+18G>T)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.39665798C>A	CA399304029	TCAP	c.193C>A (p.Pro65Thr) c.174+19C>A (n.174+19C>A)
17	g.39665798C>G	CA399304035	TCAP	c.193C>G (p.Pro65Ala) c.174+19C>G (n.174+19C>G)
17	g.39665798C>T	CA399304031	TCAP	c.193C>T (p.Pro65Ser) c.174+19C>T (n.174+19C>T)
17	g.39665800del	CA2637632657	TCAP	c.195del (p.Trp66GlyfsTer2) c.174+21del (n.174+21del)	gnomAD v4

Number of alleles fetched