Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.219418499_219419548del	CA1139655693	DES	c.37_578+508del c.37_495+591del	ClinVar
2	g.219418657_219418663del	CA2663249309	DES	c.195_201del (p.Leu66ArgfsTer?)	gnomAD v4
2	g.219418663del	CA2663249374	DES	c.201del (p.Ser68ArgfsTer?)	gnomAD v4
2	g.219418662G>A	CA350683834	DES	c.200G>A (p.Gly67Glu)
2	g.219418662G>C	CA350683839	DES	c.200G>C (p.Gly67Ala)	dbSNP gnomAD v2 gnomAD v4
2	g.219418662G=	CA1329209919	DES	c.200G= (p.Gly67=)
2	g.219418662G>T	CA350683842	DES	c.200G>T (p.Gly67Val)	gnomAD v4
2	g.219418663G>A	CA431427692	DES	c.201G>A (p.Gly67=)
2	g.219418663G>C	CA431427694	DES	c.201G>C (p.Gly67=)
2	g.219418663G=	CA1329209920	DES	c.201G= (p.Gly67=)
2	g.219418663G>T	CA431427695	DES	c.201G>T (p.Gly67=)	dbSNP gnomAD v3 gnomAD v4
2	g.219418664T>A	CA350683846	DES	c.202T>A (p.Ser68Thr)	dbSNP gnomAD v2 gnomAD v4
2	g.219418664T>C	CA350683847	DES	c.202T>C (p.Ser68Pro)
2	g.219418664T>G	CA350683853	DES	c.202T>G (p.Ser68Ala)
2	g.219418664T=	CA1329209921	DES	c.202T= (p.Ser68=)
2	g.219418665C>A	CA350683858	DES	c.203C>A (p.Ser68Ter)	gnomAD v4
2	g.219418665C>G	CA350683862	DES	c.203C>G (p.Ser68Trp)
2	g.219418665C>T	CA350683867	DES	c.203C>T (p.Ser68Leu)
2	g.219418666G>A	CA431427698	DES	c.204G>A (p.Ser68=)	dbSNP gnomAD v4
2	g.219418666G>C	CA431427699	DES	c.204G>C (p.Ser68=)
2	g.219418666G=	CA1329209922	DES	c.204G= (p.Ser68=)
2	g.219418666G>T	CA431427700	DES	c.204G>T (p.Ser68=)	gnomAD v4
2	g.219418666_219418667delinsAT	CA2740096472	DES	c.204_205delinsAT (p.Ser68=)	ClinVar
2	g.219418667C>A	CA350683874	DES	c.205C>A (p.Leu69Met)	gnomAD v4
2	g.219418667C>G	CA350683873	DES	c.205C>G (p.Leu69Val)
2	g.219418667C>T	CA431427702	DES	c.205C>T (p.Leu69=)	ClinVar dbSNP
2	g.219418668T>A	CA350683876	DES	c.206T>A (p.Leu69Gln)
2	g.219418668T>C	CA350683882	DES	c.206T>C (p.Leu69Pro)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418668T>G	CA350683884	DES	c.206T>G (p.Leu69Arg)
2	g.219418668T=	CA1329209923	DES	c.206T= (p.Leu69=)
2	g.219418669G>A	CA431427717	DES	c.207G>A (p.Leu69=)
2	g.219418669G>C	CA431427710	DES	c.207G>C (p.Leu69=)
2	g.219418669G>T	CA431427716	DES	c.207G>T (p.Leu69=)	gnomAD v4
2	g.219418670C>A	CA431427718	DES	c.208C>A (p.Arg70=)	gnomAD v4
2	g.219418670C>G	CA350683886	DES	c.208C>G (p.Arg70Gly)	gnomAD v4
2	g.219418670C>T	CA350683890	DES	c.208C>T (p.Arg70Trp)	ClinVar dbSNP gnomAD v4
2	g.219418671G>A	CA350683894	DES	c.209G>A (p.Arg70Gln)	dbSNP gnomAD v2 gnomAD v4
2	g.219418671G>C	CA16610610	DES	c.209G>C (p.Arg70Pro)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418671G=	CA1329209924	DES	c.209G= (p.Arg70=)
2	g.219418671G>T	CA350683899	DES	c.209G>T (p.Arg70Leu)	gnomAD v4
2	g.219418673del	CA2754326382	DES	c.211del (p.Ala71ProfsTer27)
2	g.219418673_219418687dup	CA2506678581	DES	c.211_225dup (p.Gly75_Thr76insAlaSerArgLeuGly)	gnomAD v4
2	g.219418672G>A	CA16610717	DES	c.210G>A (p.Arg70=)	ClinVar dbSNP
2	g.219418672G>C	CA10604110	DES	c.210G>C (p.Arg70=)	ClinVar dbSNP gnomAD v4
2	g.219418672G=	CA1329209925	DES	c.210G= (p.Arg70=)
2	g.219418672G>T	CA431427726	DES	c.210G>T (p.Arg70=)	gnomAD v4
2	g.219418673G>A	CA350683931	DES	c.211G>A (p.Ala71Thr)	dbSNP gnomAD v2 gnomAD v4
2	g.219418673G>C	CA350683934	DES	c.211G>C (p.Ala71Pro)	gnomAD v4
2	g.219418673G=	CA1329209926	DES	c.211G= (p.Ala71=)
2	g.219418673G>T	CA350683936	DES	c.211G>T (p.Ala71Ser)	ClinVar gnomAD v4
2	g.219418674C>A	CA350683950	DES	c.212C>A (p.Ala71Asp)	gnomAD v4
2	g.219418674C=	CA1329209927	DES	c.212C= (p.Ala71=)
2	g.219418674C>G	CA350683954	DES	c.212C>G (p.Ala71Gly)	dbSNP gnomAD v4
2	g.219418674C>T	CA068076	DES	c.212C>T (p.Ala71Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219418675C>A	CA431427739	DES	c.213C>A (p.Ala71=)
2	g.219418675C>G	CA431427737	DES	c.213C>G (p.Ala71=)
2	g.219418675C>T	CA431427738	DES	c.213C>T (p.Ala71=)	ClinVar gnomAD v4
2	g.219418676A>C	CA350683968	DES	c.214A>C (p.Ser72Arg)
2	g.219418676A>G	CA350683960	DES	c.214A>G (p.Ser72Gly)	gnomAD v4
2	g.219418676A>T	CA350683965	DES	c.214A>T (p.Ser72Cys)
2	g.219418677G>A	CA350683982	DES	c.215G>A (p.Ser72Asn)	gnomAD v4
2	g.219418677G>C	CA350683999	DES	c.215G>C (p.Ser72Thr)
2	g.219418677G>T	CA350684003	DES	c.215G>T (p.Ser72Ile)	gnomAD v4
2	g.219418678C>A	CA238726	DES	c.216C>A (p.Ser72Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418678C=	CA1329209928	DES	c.216C= (p.Ser72=)
2	g.219418678C>G	CA350684020	DES	c.216C>G (p.Ser72Arg)
2	g.219418678C>T	CA431427748	DES	c.216C>T (p.Ser72=)	gnomAD v4
2	g.219418679C>A	CA431427754	DES	c.217C>A (p.Arg73=)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.219418679C=	CA1329209929	DES	c.217C= (p.Arg73=)
2	g.219418679C>G	CA350684039	DES	c.217C>G (p.Arg73Gly)
2	g.219418679C>T	CA350684042	DES	c.217C>T (p.Arg73Trp)	dbSNP gnomAD v4
2	g.219418680G>A	CA2125038	DES	c.218G>A (p.Arg73Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418680G>C	CA350684064	DES	c.218G>C (p.Arg73Pro)
2	g.219418680G=	CA1329209930	DES	c.218G= (p.Arg73=)
2	g.219418680G>T	CA10581946	DES	c.218G>T (p.Arg73Leu)	ClinVar dbSNP
2	g.219418681G>A	CA431427764	DES	c.219G>A (p.Arg73=)	ClinVar gnomAD v4
2	g.219418681G>C	CA431427766	DES	c.219G>C (p.Arg73=)
2	g.219418681G>T	CA431427767	DES	c.219G>T (p.Arg73=)	gnomAD v4
2	g.219418682C>A	CA350684067	DES	c.220C>A (p.Leu74Met)	gnomAD v4
2	g.219418682C>G	CA350684069	DES	c.220C>G (p.Leu74Val)
2	g.219418682C>T	CA431427770	DES	c.220C>T (p.Leu74=)
2	g.219418683T>A	CA350684075	DES	c.221T>A (p.Leu74Gln)	ClinVar dbSNP gnomAD v4
2	g.219418683T>C	CA350684097	DES	c.221T>C (p.Leu74Pro)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.219418683T>G	CA350684086	DES	c.221T>G (p.Leu74Arg)
2	g.219418683T=	CA1329209931	DES	c.221T= (p.Leu74=)
2	g.219418684G>A	CA431427772	DES	c.222G>A (p.Leu74=)	gnomAD v4
2	g.219418684G>C	CA431427773	DES	c.222G>C (p.Leu74=)
2	g.219418684G>T	CA431427775	DES	c.222G>T (p.Leu74=)	gnomAD v4
2	g.219418685G>A	CA350684110	DES	c.223G>A (p.Gly75Arg)	dbSNP gnomAD v2 gnomAD v4
2	g.219418685G>C	CA350684114	DES	c.223G>C (p.Gly75Arg)
2	g.219418685G=	CA1329209932	DES	c.223G= (p.Gly75=)
2	g.219418685G>T	CA350684119	DES	c.223G>T (p.Gly75Trp)	gnomAD v4
2	g.219418686G>A	CA2125039	DES	c.224G>A (p.Gly75Glu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219418686G>C	CA350684134	DES	c.224G>C (p.Gly75Ala)
2	g.219418686G=	CA1329209933	DES	c.224G= (p.Gly75=)
2	g.219418686G>T	CA350684139	DES	c.224G>T (p.Gly75Val)	gnomAD v4
2	g.219418687G>A	CA2125041	DES	c.225G>A (p.Gly75=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418687G>C	CA2125040	DES	c.225G>C (p.Gly75=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219418687G=	CA1329209934	DES	c.225G= (p.Gly75=)
2	g.219418687G>T	CA431427787	DES	c.225G>T (p.Gly75=)	gnomAD v4
2	g.219418687_219418688delinsGA	CA1329209935	DES	c.225_226delinsGA (p.Gly75=)
2	g.219418688del	CA16616730	DES	c.226del (p.Thr76ProfsTer22)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418688A>C	CA350684141	DES	c.226A>C (p.Thr76Pro)
2	g.219418688A>G	CA350684146	DES	c.226A>G (p.Thr76Ala)
2	g.219418688A>T	CA350684152	DES	c.226A>T (p.Thr76Ser)	dbSNP
2	g.219418691_219418693del	CA2513286435	DES	c.229_231del (p.Thr77del)	ClinVar
2	g.219418689C>A	CA350684175	DES	c.227C>A (p.Thr76Asn)	gnomAD v4
2	g.219418689C=	CA1329209936	DES	c.227C= (p.Thr76=)
2	g.219418689C>G	CA350684172	DES	c.227C>G (p.Thr76Ser)
2	g.219418689C>T	CA2125042	DES	c.227C>T (p.Thr76Ile)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219418690del	CA2663249560	DES	c.228del (p.Thr77ProfsTer21)	gnomAD v4
2	g.219418690C>A	CA431427799	DES	c.228C>A (p.Thr76=)	gnomAD v4
2	g.219418690C=	CA1329209937	DES	c.228C= (p.Thr76=)
2	g.219418690C>G	CA2125043	DES	c.228C>G (p.Thr76=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219418690C>T	CA2125044	DES	c.228C>T (p.Thr76=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418691A=	CA1329209939	DES	c.229A= (p.Thr77=)
2	g.219418691A>C	CA350684212	DES	c.229A>C (p.Thr77Pro)	dbSNP gnomAD v3 gnomAD v4
2	g.219418691A>G	CA2125045	DES	c.229A>G (p.Thr77Ala)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418691A>T	CA350684219	DES	c.229A>T (p.Thr77Ser)
2	g.219418691_219418693delinsACC	CA1329209938	DES	c.229_231delinsACC (p.Thr77=)
2	g.219418692C>A	CA350684228	DES	c.230C>A (p.Thr77Asn)	gnomAD v4
2	g.219418692C=	CA1329209941	DES	c.230C= (p.Thr77=)
2	g.219418692C>G	CA350684239	DES	c.230C>G (p.Thr77Ser)
2	g.219418692C>T	CA350684245	DES	c.230C>T (p.Thr77Ile)	ClinVar dbSNP gnomAD v4
2	g.219418693_219418694del	CA1329209940	DES	c.231_232del (p.Arg78HisfsTer?)	dbSNP
2	g.219418693C>A	CA431427809	DES	c.231C>A (p.Thr77=)	ClinVar gnomAD v4
2	g.219418693C>G	CA431427811	DES	c.231C>G (p.Thr77=)
2	g.219418693C>T	CA431427812	DES	c.231C>T (p.Thr77=)	gnomAD v4
2	g.219418694C>A	CA350684254	DES	c.232C>A (p.Arg78Ser)	gnomAD v4
2	g.219418694C=	CA1329209942	DES	c.232C= (p.Arg78=)
2	g.219418694C>G	CA350684261	DES	c.232C>G (p.Arg78Gly)	gnomAD v4
2	g.219418694C>T	CA350684263	DES	c.232C>T (p.Arg78Cys)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.219418695G>A	CA350684270	DES	c.233G>A (p.Arg78His)	gnomAD v4
2	g.219418695G>C	CA350684278	DES	c.233G>C (p.Arg78Pro)
2	g.219418695G=	CA1329209943	DES	c.233G= (p.Arg78=)
2	g.219418695G>T	CA308301	DES	c.233G>T (p.Arg78Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418696C>A	CA431427818	DES	c.234C>A (p.Arg78=)	gnomAD v4
2	g.219418696C>G	CA431427819	DES	c.234C>G (p.Arg78=)
2	g.219418696C>T	CA431427822	DES	c.234C>T (p.Arg78=)
2	g.219418697A>C	CA350684306	DES	c.235A>C (p.Thr79Pro)	ClinVar
2	g.219418697A>G	CA350684294	DES	c.235A>G (p.Thr79Ala)	dbSNP
2	g.219418697A>T	CA350684292	DES	c.235A>T (p.Thr79Ser)
2	g.219418698C>A	CA350684310	DES	c.236C>A (p.Thr79Lys)
2	g.219418698C=	CA1329209944	DES	c.236C= (p.Thr79=)
2	g.219418698C>G	CA350684311	DES	c.236C>G (p.Thr79Arg)
2	g.219418698C>T	CA350684312	DES	c.236C>T (p.Thr79Met)	ClinVar dbSNP gnomAD v4
2	g.219418699G>A	CA233899	DES	c.237G>A (p.Thr79=)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.219418699G>C	CA431427829	DES	c.237G>C (p.Thr79=)	gnomAD v4
2	g.219418699G=	CA1329209945	DES	c.237G= (p.Thr79=)
2	g.219418699G>T	CA431427832	DES	c.237G>T (p.Thr79=)	gnomAD v4
2	g.219418700C>A	CA350684321	DES	c.238C>A (p.Pro80Thr)	gnomAD v4
2	g.219418700C>G	CA350684322	DES	c.238C>G (p.Pro80Ala)
2	g.219418700C>T	CA350684323	DES	c.238C>T (p.Pro80Ser)	ClinVar gnomAD v4
2	g.219418701C>A	CA350684326	DES	c.239C>A (p.Pro80His)	gnomAD v4
2	g.219418701C>G	CA350684339	DES	c.239C>G (p.Pro80Arg)
2	g.219418701C>T	CA350684352	DES	c.239C>T (p.Pro80Leu)	dbSNP gnomAD v4
2	g.219418707_219418709dup	CA2663249661	DES	c.245_247dup (p.Ser82_Tyr83insSer)	gnomAD v4
2	g.219418707_219418709del	CA2580616702	DES	c.245_247del (p.Ser82del)	ClinVar
2	g.219418702C>A	CA431427838	DES	c.240C>A (p.Pro80=)	gnomAD v4
2	g.219418702C=	CA1329209946	DES	c.240C= (p.Pro80=)
2	g.219418702C>G	CA431427839	DES	c.240C>G (p.Pro80=)
2	g.219418702C>T	CA431427840	DES	c.240C>T (p.Pro80=)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.219418703T>A	CA350684357	DES	c.241T>A (p.Ser81Thr)
2	g.219418703T>C	CA350684358	DES	c.241T>C (p.Ser81Pro)
2	g.219418703T>G	CA350684359	DES	c.241T>G (p.Ser81Ala)
2	g.219418704C>A	CA350684372	DES	c.242C>A (p.Ser81Tyr)
2	g.219418704C>G	CA350684376	DES	c.242C>G (p.Ser81Cys)
2	g.219418704C>T	CA350684368	DES	c.242C>T (p.Ser81Phe)	gnomAD v4
2	g.219418705C>A	CA2125046	DES	c.243C>A (p.Ser81=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219418705C=	CA1329209947	DES	c.243C= (p.Ser81=)
2	g.219418705C>G	CA431427850	DES	c.243C>G (p.Ser81=)
2	g.219418705C>T	CA184122	DES	c.243C>T (p.Ser81=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418706T>A	CA350684392	DES	c.244T>A (p.Ser82Thr)
2	g.219418706T>C	CA350684394	DES	c.244T>C (p.Ser82Pro)	ClinVar
2	g.219418706T>G	CA350684401	DES	c.244T>G (p.Ser82Ala)
2	g.219418707_219418708insATC	CA2535102168	DES	c.245_246insATC (p.Ser82_Tyr83insSer)
2	g.219418707C>A	CA350684416	DES	c.245C>A (p.Ser82Tyr)	dbSNP gnomAD v3 gnomAD v4
2	g.219418707C=	CA1329209948	DES	c.245C= (p.Ser82=)
2	g.219418707C>G	CA350684433	DES	c.245C>G (p.Ser82Cys)
2	g.219418707C>T	CA350684436	DES	c.245C>T (p.Ser82Phe)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418708C>A	CA431427853	DES	c.246C>A (p.Ser82=)
2	g.219418708C>G	CA431427854	DES	c.246C>G (p.Ser82=)	ClinVar
2	g.219418708C>T	CA431427855	DES	c.246C>T (p.Ser82=)	ClinVar
2	g.219418709T>A	CA350684453	DES	c.247T>A (p.Tyr83Asn)	gnomAD v4
2	g.219418709T>C	CA350684448	DES	c.247T>C (p.Tyr83His)	ClinVar dbSNP
2	g.219418709T>G	CA350684451	DES	c.247T>G (p.Tyr83Asp)
2	g.219418709T=	CA1329209949	DES	c.247T= (p.Tyr83=)
2	g.219418710del	CA2663249670	DES	c.248del (p.Tyr83SerfsTer15)	gnomAD v4
2	g.219418710A>C	CA350684456	DES	c.248A>C (p.Tyr83Ser)
2	g.219418710A>G	CA350684458	DES	c.248A>G (p.Tyr83Cys)
2	g.219418710A>T	CA350684467	DES	c.248A>T (p.Tyr83Phe)
2	g.219418711C>A	CA350684471	DES	c.249C>A (p.Tyr83Ter)	ClinVar
2	g.219418711C>G	CA350684475	DES	c.249C>G (p.Tyr83Ter)
2	g.219418711C>T	CA431427859	DES	c.249C>T (p.Tyr83=)	ClinVar dbSNP gnomAD v4
2	g.219418712G>A	CA175620	DES	c.250G>A (p.Gly84Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418712G>C	CA350684487	DES	c.250G>C (p.Gly84Arg)
2	g.219418712G=	CA1329209950	DES	c.250G= (p.Gly84=)
2	g.219418712G>T	CA350684477	DES	c.250G>T (p.Gly84Cys)
2	g.219418713G>A	CA350684494	DES	c.251G>A (p.Gly84Asp)
2	g.219418713G>C	CA350684499	DES	c.251G>C (p.Gly84Ala)	gnomAD v4
2	g.219418713G>T	CA350684502	DES	c.251G>T (p.Gly84Val)
2	g.219418714C>A	CA431427869	DES	c.252C>A (p.Gly84=)
2	g.219418714C=	CA1329209951	DES	c.252C= (p.Gly84=)
2	g.219418714C>G	CA431427870	DES	c.252C>G (p.Gly84=)
2	g.219418714C>T	CA431427871	DES	c.252C>T (p.Gly84=)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.219418715G>A	CA350684521	DES	c.253G>A (p.Ala85Thr)	ClinVar gnomAD v4
2	g.219418715G>C	CA350684522	DES	c.253G>C (p.Ala85Pro)
2	g.219418715G>T	CA350684524	DES	c.253G>T (p.Ala85Ser)	dbSNP gnomAD v4
2	g.219418716C>A	CA350684535	DES	c.254C>A (p.Ala85Glu)	gnomAD v4
2	g.219418716C=	CA1329209952	DES	c.254C= (p.Ala85=)
2	g.219418716C>G	CA350684540	DES	c.254C>G (p.Ala85Gly)
2	g.219418716C>T	CA350684549	DES	c.254C>T (p.Ala85Val)	ClinVar dbSNP
2	g.219418716_219418717insT	CA764964187	DES	c.254_255insT (p.Gly86ArgfsTer?)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.219418717A>C	CA431427880	DES	c.255A>C (p.Ala85=)
2	g.219418717A>G	CA431427882	DES	c.255A>G (p.Ala85=)	dbSNP gnomAD v4
2	g.219418717A>T	CA431427881	DES	c.255A>T (p.Ala85=)
2	g.219418718G>A	CA350684553	DES	c.256G>A (p.Gly86Ser)
2	g.219418718G>C	CA350684556	DES	c.256G>C (p.Gly86Arg)	gnomAD v4
2	g.219418718G>T	CA350684559	DES	c.256G>T (p.Gly86Cys)	gnomAD v4
2	g.219418719G>A	CA350684560	DES	c.257G>A (p.Gly86Asp)	gnomAD v4
2	g.219418719G>C	CA350684566	DES	c.257G>C (p.Gly86Ala)
2	g.219418719G>T	CA350684563	DES	c.257G>T (p.Gly86Val)
2	g.219418720C>A	CA431427888	DES	c.258C>A (p.Gly86=)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.219418720C=	CA1329209953	DES	c.258C= (p.Gly86=)
2	g.219418720C>G	CA16604126	DES	c.258C>G (p.Gly86=)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.219418720C>T	CA431427889	DES	c.258C>T (p.Gly86=)	ClinVar dbSNP gnomAD v4
2	g.219418721G>A	CA350684571	DES	c.259G>A (p.Glu87Lys)	gnomAD v4 COSMIC
2	g.219418721G>C	CA350684574	DES	c.259G>C (p.Glu87Gln)
2	g.219418721G=	CA1329209954	DES	c.259G= (p.Glu87=)
2	g.219418721G>T	CA2125047	DES	c.259G>T (p.Glu87Ter)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219418721_219418722insTAGG	CA2663249702	DES	c.259_260insTAGG (p.Glu87ValfsTer?)	gnomAD v4
2	g.219418722A>C	CA350684592	DES	c.260A>C (p.Glu87Ala)
2	g.219418722A>G	CA350684600	DES	c.260A>G (p.Glu87Gly)	gnomAD v4
2	g.219418722A>T	CA350684604	DES	c.260A>T (p.Glu87Val)
2	g.219418723G>A	CA2125048	DES	c.261G>A (p.Glu87=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418723G>C	CA350684610	DES	c.261G>C (p.Glu87Asp)
2	g.219418723G=	CA1329209955	DES	c.261G= (p.Glu87=)
2	g.219418723G>T	CA350684616	DES	c.261G>T (p.Glu87Asp)	ClinVar gnomAD v4
2	g.219418724C>A	CA350684622	DES	c.262C>A (p.Leu88Met)	gnomAD v4
2	g.219418724C>G	CA350684629	DES	c.262C>G (p.Leu88Val)
2	g.219418724C>T	CA431427896	DES	c.262C>T (p.Leu88=)
2	g.219418724_219418725delinsAG	CA645372707	DES	c.262_263delinsAG (p.Leu88Arg)	ClinVar
2	g.219418725T>A	CA350684647	DES	c.263T>A (p.Leu88Gln)
2	g.219418725T>C	CA2125049	DES	c.263T>C (p.Leu88Pro)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219418725T>G	CA350684632	DES	c.263T>G (p.Leu88Arg)	gnomAD v4
2	g.219418725T=	CA1329209956	DES	c.263T= (p.Leu88=)
2	g.219418726G>A	CA431427900	DES	c.264G>A (p.Leu88=)
2	g.219418726G>C	CA431427899	DES	c.264G>C (p.Leu88=)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.219418726G=	CA1329209957	DES	c.264G= (p.Leu88=)
2	g.219418726G>T	CA431427898	DES	c.264G>T (p.Leu88=)	gnomAD v4
2	g.219418727C>A	CA350684650	DES	c.265C>A (p.Leu89Met)	gnomAD v4
2	g.219418727C=	CA1329209958	DES	c.265C= (p.Leu89=)
2	g.219418727C>G	CA350684655	DES	c.265C>G (p.Leu89Val)
2	g.219418727C>T	CA431427904	DES	c.265C>T (p.Leu89=)	dbSNP
2	g.219418728T>A	CA350684671	DES	c.266T>A (p.Leu89Gln)	gnomAD v4 COSMIC
2	g.219418728T>C	CA350684678	DES	c.266T>C (p.Leu89Pro)	dbSNP gnomAD v2 gnomAD v4
2	g.219418728T>G	CA350684683	DES	c.266T>G (p.Leu89Arg)
2	g.219418728T=	CA1329209959	DES	c.266T= (p.Leu89=)
2	g.219418729G>A	CA431427905	DES	c.267G>A (p.Leu89=)
2	g.219418729G>C	CA431427906	DES	c.267G>C (p.Leu89=)
2	g.219418729G>T	CA431427908	DES	c.267G>T (p.Leu89=)	gnomAD v4
2	g.219418730G>A	CA350684685	DES	c.268G>A (p.Asp90Asn)	gnomAD v4
2	g.219418730G>C	CA350684687	DES	c.268G>C (p.Asp90His)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418730G=	CA1329209960	DES	c.268G= (p.Asp90=)
2	g.219418730G>T	CA350684690	DES	c.268G>T (p.Asp90Tyr)
2	g.219418730_219418731insC	CA539843122	DES	c.268_269insC (p.Asp90AlafsTer28)	dbSNP gnomAD v2 gnomAD v4
2	g.219418731A=	CA1329209961	DES	c.269A= (p.Asp90=)
2	g.219418731A>C	CA350684713	DES	c.269A>C (p.Asp90Ala)	ClinVar dbSNP gnomAD v4 COSMIC
2	g.219418731A>G	CA350684716	DES	c.269A>G (p.Asp90Gly)
2	g.219418731A>T	CA350684720	DES	c.269A>T (p.Asp90Val)	ClinVar dbSNP
2	g.219418732C>A	CA350684722	DES	c.270C>A (p.Asp90Glu)	dbSNP gnomAD v4
2	g.219418732C=	CA1329209962	DES	c.270C= (p.Asp90=)
2	g.219418732C>G	CA350684724	DES	c.270C>G (p.Asp90Glu)
2	g.219418732C>T	CA431427912	DES	c.270C>T (p.Asp90=)
2	g.219418733T>A	CA350684749	DES	c.271T>A (p.Phe91Ile)
2	g.219418733T>C	CA350684746	DES	c.271T>C (p.Phe91Leu)
2	g.219418733T>G	CA350684730	DES	c.271T>G (p.Phe91Val)
2	g.219418734T>A	CA350684761	DES	c.272T>A (p.Phe91Tyr)
2	g.219418734T>C	CA350684754	DES	c.272T>C (p.Phe91Ser)
2	g.219418734T>G	CA350684763	DES	c.272T>G (p.Phe91Cys)
2	g.219418735C>A	CA350684766	DES	c.273C>A (p.Phe91Leu)	gnomAD v4
2	g.219418735C=	CA1329209963	DES	c.273C= (p.Phe91=)
2	g.219418735C>G	CA350684768	DES	c.273C>G (p.Phe91Leu)	gnomAD v4
2	g.219418735C>T	CA65981039	DES	c.273C>T (p.Phe91=)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.219418736T>A	CA350684770	DES	c.274T>A (p.Ser92Thr)
2	g.219418736T>C	CA350684771	DES	c.274T>C (p.Ser92Pro)	COSMIC
2	g.219418736T>G	CA350684773	DES	c.274T>G (p.Ser92Ala)
2	g.219418737C>A	CA350684777	DES	c.275C>A (p.Ser92Ter)	gnomAD v4
2	g.219418737C=	CA1329209964	DES	c.275C= (p.Ser92=)
2	g.219418737C>G	CA350684776	DES	c.275C>G (p.Ser92Ter)
2	g.219418737C>T	CA350684775	DES	c.275C>T (p.Ser92Leu)	ClinVar dbSNP gnomAD v4
2	g.219418738A=	CA1329209965	DES	c.276A= (p.Ser92=)
2	g.219418738A>C	CA431427920	DES	c.276A>C (p.Ser92=)
2	g.219418738A>G	CA431427922	DES	c.276A>G (p.Ser92=)	dbSNP
2	g.219418738A>T	CA431427921	DES	c.276A>T (p.Ser92=)
2	g.219418739C>A	CA350684779	DES	c.277C>A (p.Leu93Met)
2	g.219418739C=	CA1329209966	DES	c.277C= (p.Leu93=)
2	g.219418739C>G	CA350684780	DES	c.277C>G (p.Leu93Val)	gnomAD v4
2	g.219418739C>T	CA65981047	DES	c.277C>T (p.Leu93=)	dbSNP gnomAD v2 gnomAD v4
2	g.219418740T>A	CA350684786	DES	c.278T>A (p.Leu93Gln)
2	g.219418740T>C	CA350684789	DES	c.278T>C (p.Leu93Pro)	ClinVar gnomAD v4
2	g.219418740T>G	CA350684795	DES	c.278T>G (p.Leu93Arg)
2	g.219418741G>A	CA431427923	DES	c.279G>A (p.Leu93=)	gnomAD v4
2	g.219418741G>C	CA431427924	DES	c.279G>C (p.Leu93=)
2	g.219418741G>T	CA431427926	DES	c.279G>T (p.Leu93=)
2	g.219418742G>A	CA350684801	DES	c.280G>A (p.Ala94Thr)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.219418742G>C	CA350684815	DES	c.280G>C (p.Ala94Pro)	gnomAD v4
2	g.219418742G=	CA1329209967	DES	c.280G= (p.Ala94=)
2	g.219418742G>T	CA350684810	DES	c.280G>T (p.Ala94Ser)
2	g.219418743C>A	CA350684817	DES	c.281C>A (p.Ala94Asp)
2	g.219418743C=	CA1329209968	DES	c.281C= (p.Ala94=)
2	g.219418743C>G	CA350684820	DES	c.281C>G (p.Ala94Gly)
2	g.219418743C>T	CA350684826	DES	c.281C>T (p.Ala94Val)	dbSNP gnomAD v2 gnomAD v4
2	g.219418744C>A	CA431427931	DES	c.282C>A (p.Ala94=)
2	g.219418744C=	CA1329209969	DES	c.282C= (p.Ala94=)
2	g.219418744C>G	CA133841	DES	c.282C>G (p.Ala94=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418744C>T	CA431427932	DES	c.282C>T (p.Ala94=)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.219418745G>A	CA350684837	DES	c.283G>A (p.Asp95Asn)	gnomAD v4
2	g.219418745G>C	CA350684846	DES	c.283G>C (p.Asp95His)
2	g.219418745G>T	CA350684851	DES	c.283G>T (p.Asp95Tyr)	gnomAD v4
2	g.219418746A=	CA1329209970	DES	c.284A= (p.Asp95=)
2	g.219418746A>C	CA350684856	DES	c.284A>C (p.Asp95Ala)
2	g.219418746A>G	CA350684861	DES	c.284A>G (p.Asp95Gly)
2	g.219418746A>T	CA350684863	DES	c.284A>T (p.Asp95Val)	ClinVar dbSNP
2	g.219418747C>A	CA350684888	DES	c.285C>A (p.Asp95Glu)	gnomAD v4
2	g.219418747C=	CA1329209971	DES	c.285C= (p.Asp95=)
2	g.219418747C>G	CA350684885	DES	c.285C>G (p.Asp95Glu)
2	g.219418747C>T	CA2125050	DES	c.285C>T (p.Asp95=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418748G>A	CA350684893	DES	c.286G>A (p.Ala96Thr)	gnomAD v4
2	g.219418748G>C	CA350684898	DES	c.286G>C (p.Ala96Pro)
2	g.219418748G=	CA1329209972	DES	c.286G= (p.Ala96=)
2	g.219418748G>T	CA10587549	DES	c.286G>T (p.Ala96Ser)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418749C>A	CA65981058	DES	c.287C>A (p.Ala96Glu)	dbSNP gnomAD v4
2	g.219418749C=	CA1329209973	DES	c.287C= (p.Ala96=)
2	g.219418749C>G	CA350684907	DES	c.287C>G (p.Ala96Gly)	ClinVar
2	g.219418749C>T	CA350684913	DES	c.287C>T (p.Ala96Val)	COSMIC
2	g.219418750G>A	CA431427939	DES	c.288G>A (p.Ala96=)	gnomAD v4
2	g.219418750G>C	CA431427940	DES	c.288G>C (p.Ala96=)	dbSNP
2	g.219418750G=	CA1329209974	DES	c.288G= (p.Ala96=)
2	g.219418750G>T	CA431427941	DES	c.288G>T (p.Ala96=)	gnomAD v4
2	g.219418751G>A	CA350684928	DES	c.289G>A (p.Val97Met)	gnomAD v4
2	g.219418751G>C	CA350684929	DES	c.289G>C (p.Val97Leu)
2	g.219418751G>T	CA350684930	DES	c.289G>T (p.Val97Leu)
2	g.219418752T>A	CA350684933	DES	c.290T>A (p.Val97Glu)	gnomAD v4
2	g.219418752T>C	CA350684936	DES	c.290T>C (p.Val97Ala)
2	g.219418752T>G	CA350684938	DES	c.290T>G (p.Val97Gly)
2	g.219418753G>A	CA2125051	DES	c.291G>A (p.Val97=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418753G>C	CA431427946	DES	c.291G>C (p.Val97=)
2	g.219418753G=	CA1329209975	DES	c.291G= (p.Val97=)
2	g.219418753G>T	CA431427947	DES	c.291G>T (p.Val97=)	gnomAD v4
2	g.219418754A>C	CA350684952	DES	c.292A>C (p.Asn98His)
2	g.219418754A>G	CA350684947	DES	c.292A>G (p.Asn98Asp)	gnomAD v4
2	g.219418754A>T	CA350684950	DES	c.292A>T (p.Asn98Tyr)	ClinVar
2	g.219418755A>C	CA350684954	DES	c.293A>C (p.Asn98Thr)
2	g.219418755A>G	CA350684957	DES	c.293A>G (p.Asn98Ser)	gnomAD v4
2	g.219418755A>T	CA350684962	DES	c.293A>T (p.Asn98Ile)
2	g.219418756C>A	CA350684967	DES	c.294C>A (p.Asn98Lys)
2	g.219418756C=	CA1329209976	DES	c.294C= (p.Asn98=)
2	g.219418756C>G	CA350684971	DES	c.294C>G (p.Asn98Lys)
2	g.219418756C>T	CA431427458	DES	c.294C>T (p.Asn98=)	ClinVar dbSNP gnomAD v4
2	g.219418757C>A	CA350684976	DES	c.295C>A (p.Gln99Lys)	gnomAD v4
2	g.219418757C=	CA1329209977	DES	c.295C= (p.Gln99=)
2	g.219418757C>G	CA308304	DES	c.295C>G (p.Gln99Glu)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.219418757C>T	CA350684982	DES	c.295C>T (p.Gln99Ter)
2	g.219418758A>C	CA350684988	DES	c.296A>C (p.Gln99Pro)
2	g.219418758A>G	CA350684991	DES	c.296A>G (p.Gln99Arg)
2	g.219418758A>T	CA350685000	DES	c.296A>T (p.Gln99Leu)
2	g.219418759G>A	CA431427461	DES	c.297G>A (p.Gln99=)
2	g.219418759G>C	CA350685006	DES	c.297G>C (p.Gln99His)
2	g.219418759G>T	CA350685009	DES	c.297G>T (p.Gln99His)	gnomAD v4
2	g.219418760G>A	CA350685014	DES	c.298G>A (p.Glu100Lys)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.219418760G>C	CA350685017	DES	c.298G>C (p.Glu100Gln)	gnomAD v4
2	g.219418760G=	CA1329209978	DES	c.298G= (p.Glu100=)
2	g.219418760G>T	CA350685013	DES	c.298G>T (p.Glu100Ter)
2	g.219418761A=	CA1329209979	DES	c.299A= (p.Glu100=)
2	g.219418761A>C	CA308307	DES	c.299A>C (p.Glu100Ala)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418761A>G	CA350685021	DES	c.299A>G (p.Glu100Gly)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.219418761A>T	CA350685024	DES	c.299A>T (p.Glu100Val)
2	g.219418762G>A	CA431427465	DES	c.300G>A (p.Glu100=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418762G>C	CA350685030	DES	c.300G>C (p.Glu100Asp)
2	g.219418762G=	CA1329209980	DES	c.300G= (p.Glu100=)
2	g.219418762G>T	CA350685036	DES	c.300G>T (p.Glu100Asp)	gnomAD v4
2	g.219418762dup	CA2580065780	DES	c.300dup (p.Phe101ValfsTer17)	ClinVar

Number of alleles fetched