Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
1	g.230710677A=	CA1226658701	AGT	c.147T= (p.Asn49=) n.658T= c.174T= (p.Asn58=)
1	g.230710677A>C	CA345207514	AGT	c.147T>G (p.Asn49Lys) n.658T>G c.174T>G (p.Asn58Lys)
1	g.230710677A>G	CA424036903	AGT	c.147T>C (p.Asn49=) n.658T>C c.174T>C (p.Asn58=)	COSMIC
1	g.230710677A>T	CA345207515	AGT	c.147T>A (p.Asn49Lys) n.658T>A c.174T>A (p.Asn58Lys)	dbSNP gnomAD v2 gnomAD v4
1	g.230710678T>A	CA345207516	AGT	c.146A>T (p.Asn49Ile) n.657A>T c.173A>T (p.Asn58Ile)
1	g.230710678T>C	CA345207517	AGT	c.146A>G (p.Asn49Ser) n.657A>G c.173A>G (p.Asn58Ser)	dbSNP gnomAD v2 gnomAD v4
1	g.230710678T>G	CA345207518	AGT	c.146A>C (p.Asn49Thr) n.657A>C c.173A>C (p.Asn58Thr)
1	g.230710678T=	CA1226658709	AGT	c.146A= (p.Asn49=) n.657A= c.173A= (p.Asn58=)
1	g.230710679T>A	CA345207519	AGT	c.145A>T (p.Asn49Tyr) n.656A>T c.172A>T (p.Asn58Tyr)
1	g.230710679T>C	CA345207520	AGT	c.145A>G (p.Asn49Asp) n.656A>G c.172A>G (p.Asn58Asp)
1	g.230710679T>G	CA345207521	AGT	c.145A>C (p.Asn49His) n.656A>C c.172A>C (p.Asn58His)
1	g.230710680G>A	CA424036907	AGT	c.144C>T (p.Ala48=) n.655C>T c.171C>T (p.Ala57=)
1	g.230710680G>C	CA424036908	AGT	c.144C>G (p.Ala48=) n.655C>G c.171C>G (p.Ala57=)
1	g.230710680G=	CA1145190341	AGT	c.144C= (p.Ala48=) n.655C= c.171C= (p.Ala57=)
1	g.230710680G>T	CA1448367	AGT	c.144C>A (p.Ala48=) n.655C>A c.171C>A (p.Ala57=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.230710681G>A	CA345207522	AGT	c.143C>T (p.Ala48Val) n.654C>T c.170C>T (p.Ala57Val)	dbSNP gnomAD v2 gnomAD v4 COSMIC
1	g.230710681G>C	CA345207523	AGT	c.143C>G (p.Ala48Gly) n.654C>G c.170C>G (p.Ala57Gly)
1	g.230710681G=	CA1226658717	AGT	c.143C= (p.Ala48=) n.654C= c.170C= (p.Ala57=)
1	g.230710681G>T	CA38872281	AGT	c.143C>A (p.Ala48Asp) n.654C>A c.170C>A (p.Ala57Asp)	dbSNP COSMIC
1	g.230710682C>A	CA345207524	AGT	c.142G>T (p.Ala48Ser) n.653G>T c.169G>T (p.Ala57Ser)
1	g.230710682C>G	CA345207525	AGT	c.142G>C (p.Ala48Pro) n.653G>C c.169G>C (p.Ala57Pro)
1	g.230710682C>T	CA345207526	AGT	c.142G>A (p.Ala48Thr) n.653G>A c.169G>A (p.Ala57Thr)
1	g.230710683C>A	CA345207527	AGT	c.141G>T (p.Lys47Asn) n.652G>T c.168G>T (p.Lys56Asn)	dbSNP
1	g.230710683C=	CA1226658724	AGT	c.141G= (p.Lys47=) n.652G= c.168G= (p.Lys56=)
1	g.230710683C>G	CA345207528	AGT	c.141G>C (p.Lys47Asn) n.652G>C c.168G>C (p.Lys56Asn)
1	g.230710683C>T	CA1448368	AGT	c.141G>A (p.Lys47=) n.652G>A c.168G>A (p.Lys56=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.230710684T>A	CA1448369	AGT	c.140A>T (p.Lys47Met) n.651A>T c.167A>T (p.Lys56Met)	dbSNP ExAC gnomAD v2 gnomAD v4
1	g.230710684T>C	CA345207529	AGT	c.140A>G (p.Lys47Arg) n.651A>G c.167A>G (p.Lys56Arg)
1	g.230710684T>G	CA345207530	AGT	c.140A>C (p.Lys47Thr) n.651A>C c.167A>C (p.Lys56Thr)
1	g.230710684T=	CA1226658728	AGT	c.140A= (p.Lys47=) n.651A= c.167A= (p.Lys56=)
1	g.230710685T>A	CA345207533	AGT	c.139A>T (p.Lys47Ter) n.650A>T c.166A>T (p.Lys56Ter)
1	g.230710685T>C	CA345207532	AGT	c.139A>G (p.Lys47Glu) n.650A>G c.166A>G (p.Lys56Glu)	dbSNP
1	g.230710685T>G	CA345207531	AGT	c.139A>C (p.Lys47Gln) n.650A>C c.166A>C (p.Lys56Gln)
1	g.230710685T=	CA1226658736	AGT	c.139A= (p.Lys47=) n.650A= c.166A= (p.Lys56=)
1	g.230710686T>A	CA424036920	AGT	c.138A>T (p.Ala46=) n.649A>T c.165A>T (p.Ala55=)
1	g.230710686T>C	CA424036921	AGT	c.138A>G (p.Ala46=) n.649A>G c.165A>G (p.Ala55=)	COSMIC
1	g.230710686T>G	CA424036922	AGT	c.138A>C (p.Ala46=) n.649A>C c.165A>C (p.Ala55=)
1	g.230710687G>A	CA345207536	AGT	c.137C>T (p.Ala46Val) n.648C>T c.164C>T (p.Ala55Val)
1	g.230710687G>C	CA345207534	AGT	c.137C>G (p.Ala46Gly) n.648C>G c.164C>G (p.Ala55Gly)
1	g.230710687G>T	CA345207535	AGT	c.137C>A (p.Ala46Glu) n.648C>A c.164C>A (p.Ala55Glu)
1	g.230710688C>A	CA345207537	AGT	c.136G>T (p.Ala46Ser) n.647G>T c.163G>T (p.Ala55Ser)
1	g.230710688C>G	CA345207538	AGT	c.136G>C (p.Ala46Pro) n.647G>C c.163G>C (p.Ala55Pro)
1	g.230710688C>T	CA345207539	AGT	c.136G>A (p.Ala46Thr) n.647G>A c.163G>A (p.Ala55Thr)	gnomAD v4
1	g.230710689C>A	CA424036926	AGT	c.135G>T (p.Leu45=) n.646G>T c.162G>T (p.Leu54=)
1	g.230710689C=	CA1226658740	AGT	c.135G= (p.Leu45=) n.646G= c.162G= (p.Leu54=)
1	g.230710689C>G	CA424036927	AGT	c.135G>C (p.Leu45=) n.646G>C c.162G>C (p.Leu54=)
1	g.230710689C>T	CA424036928	AGT	c.135G>A (p.Leu45=) n.646G>A c.162G>A (p.Leu54=)	ClinVar dbSNP
1	g.230710690A>C	CA345207540	AGT	c.134T>G (p.Leu45Arg) n.645T>G c.161T>G (p.Leu54Arg)
1	g.230710690A>G	CA345207541	AGT	c.134T>C (p.Leu45Pro) n.645T>C c.161T>C (p.Leu54Pro)
1	g.230710690A>T	CA345207542	AGT	c.134T>A (p.Leu45Gln) n.645T>A c.161T>A (p.Leu54Gln)
1	g.230710691G>A	CA424036933	AGT	c.133C>T (p.Leu45=) n.644C>T c.160C>T (p.Leu54=)
1	g.230710691G>C	CA345207543	AGT	c.133C>G (p.Leu45Val) n.644C>G c.160C>G (p.Leu54Val)
1	g.230710691G=	CA1226658745	AGT	c.133C= (p.Leu45=) n.644C= c.160C= (p.Leu54=)
1	g.230710691G>T	CA345207544	AGT	c.133C>A (p.Leu45Met) n.644C>A c.160C>A (p.Leu54Met)	dbSNP gnomAD v2 gnomAD v4
1	g.230710692C>A	CA345207545	AGT	c.132G>T (p.Gln44His) n.643G>T c.159G>T (p.Gln53His)
1	g.230710692C>G	CA345207546	AGT	c.132G>C (p.Gln44His) n.643G>C c.159G>C (p.Gln53His)
1	g.230710692C>T	CA424036936	AGT	c.132G>A (p.Gln44=) n.643G>A c.159G>A (p.Gln53=)
1	g.230710693T>A	CA345207549	AGT	c.131A>T (p.Gln44Leu) n.642A>T c.158A>T (p.Gln53Leu)
1	g.230710693T>C	CA345207548	AGT	c.131A>G (p.Gln44Arg) n.642A>G c.158A>G (p.Gln53Arg)
1	g.230710693T>G	CA345207547	AGT	c.131A>C (p.Gln44Pro) n.642A>C c.158A>C (p.Gln53Pro)
1	g.230710694G>A	CA38872313	AGT	c.130C>T (p.Gln44Ter) n.641C>T c.157C>T (p.Gln53Ter)	dbSNP
1	g.230710694G>C	CA1448370	AGT	c.130C>G (p.Gln44Glu) n.641C>G c.157C>G (p.Gln53Glu)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.230710694G=	CA1139772892	AGT	c.130C= (p.Gln44=) n.641C= c.157C= (p.Gln53=)
1	g.230710694G>T	CA345207553	AGT	c.130C>A (p.Gln44Lys) n.641C>A c.157C>A (p.Gln53Lys)	gnomAD v4
1	g.230710695C>A	CA345207554	AGT	c.129G>T (p.Glu43Asp) n.640G>T c.156G>T (p.Glu52Asp)
1	g.230710695C=	CA1226658756	AGT	c.129G= (p.Glu43=) n.640G= c.156G= (p.Glu52=)
1	g.230710695C>G	CA345207556	AGT	c.129G>C (p.Glu43Asp) n.640G>C c.156G>C (p.Glu52Asp)
1	g.230710695C>T	CA424036942	AGT	c.129G>A (p.Glu43=) n.640G>A c.156G>A (p.Glu52=)	dbSNP
1	g.230710696T>A	CA345207558	AGT	c.128A>T (p.Glu43Val) n.639A>T c.155A>T (p.Glu52Val)
1	g.230710696T>C	CA345207560	AGT	c.128A>G (p.Glu43Gly) n.639A>G c.155A>G (p.Glu52Gly)	gnomAD v4
1	g.230710696T>G	CA345207561	AGT	c.128A>C (p.Glu43Ala) n.639A>C c.155A>C (p.Glu52Ala)
1	g.230710697C>A	CA345207562	AGT	c.127G>T (p.Glu43Ter) n.638G>T c.154G>T (p.Glu52Ter)
1	g.230710697C>G	CA345207565	AGT	c.127G>C (p.Glu43Gln) n.638G>C c.154G>C (p.Glu52Gln)
1	g.230710697C>T	CA345207566	AGT	c.127G>A (p.Glu43Lys) n.638G>A c.154G>A (p.Glu52Lys)	gnomAD v4
1	g.230710698A>C	CA345207568	AGT	c.126T>G (p.Cys42Trp) n.637T>G c.153T>G (p.Cys51Trp)
1	g.230710698A>G	CA424036944	AGT	c.126T>C (p.Cys42=) n.637T>C c.153T>C (p.Cys51=)
1	g.230710698A>T	CA345207569	AGT	c.126T>A (p.Cys42Ter) n.637T>A c.153T>A (p.Cys51Ter)
1	g.230710699C>A	CA345207572	AGT	c.125G>T (p.Cys42Phe) n.636G>T c.152G>T (p.Cys51Phe)
1	g.230710699C=	CA1226658761	AGT	c.125G= (p.Cys42=) n.636G= c.152G= (p.Cys51=)
1	g.230710699C>G	CA345207573	AGT	c.125G>C (p.Cys42Ser) n.636G>C c.152G>C (p.Cys51Ser)	dbSNP
1	g.230710699C>T	CA345207570	AGT	c.125G>A (p.Cys42Tyr) n.636G>A c.152G>A (p.Cys51Tyr)
1	g.230710700A=	CA1140725505	AGT	c.124T= (p.Cys42=) n.635T= c.151T= (p.Cys51=)
1	g.230710700A>C	CA345207575	AGT	c.124T>G (p.Cys42Gly) n.635T>G c.151T>G (p.Cys51Gly)
1	g.230710700A>G	CA1448371	AGT	c.124T>C (p.Cys42Arg) n.635T>C c.151T>C (p.Cys51Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.230710700A>T	CA345207576	AGT	c.124T>A (p.Cys42Ser) n.635T>A c.151T>A (p.Cys51Ser)
1	g.230710701G>A	CA1448372	AGT	c.123C>T (p.Thr41=) n.634C>T c.150C>T (p.Thr50=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1	g.230710701G>C	CA424036949	AGT	c.123C>G (p.Thr41=) n.634C>G c.150C>G (p.Thr50=)
1	g.230710701G=	CA1226658771	AGT	c.123C= (p.Thr41=) n.634C= c.150C= (p.Thr50=)
1	g.230710701G>T	CA424036948	AGT	c.123C>A (p.Thr41=) n.634C>A c.150C>A (p.Thr50=)
1	g.230710702G>A	CA345207579	AGT	c.122C>T (p.Thr41Ile) n.633C>T c.149C>T (p.Thr50Ile)
1	g.230710702G>C	CA345207581	AGT	c.122C>G (p.Thr41Ser) n.633C>G c.149C>G (p.Thr50Ser)
1	g.230710702G>T	CA345207583	AGT	c.122C>A (p.Thr41Asn) n.633C>A c.149C>A (p.Thr50Asn)	gnomAD v4
1	g.230710703T>A	CA1448373	AGT	c.121A>T (p.Thr41Ser) n.632A>T c.148A>T (p.Thr50Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.230710703T>C	CA38872351	AGT	c.121A>G (p.Thr41Ala) n.632A>G c.148A>G (p.Thr50Ala)	dbSNP
1	g.230710703T>G	CA345207585	AGT	c.121A>C (p.Thr41Pro) n.632A>C c.148A>C (p.Thr50Pro)
1	g.230710703T=	CA1143505377	AGT	c.121A= (p.Thr41=) n.632A= c.148A= (p.Thr50=)
1	g.230710704A>C	CA345207588	AGT	c.120T>G (p.Ser40Arg) n.631T>G c.147T>G (p.Ser49Arg)
1	g.230710704A>G	CA424036953	AGT	c.120T>C (p.Ser40=) n.631T>C c.147T>C (p.Ser49=)
1	g.230710704A>T	CA345207590	AGT	c.120T>A (p.Ser40Arg) n.631T>A c.147T>A (p.Ser49Arg)
1	g.230710705C>A	CA345207591	AGT	c.119G>T (p.Ser40Ile) n.630G>T c.146G>T (p.Ser49Ile)
1	g.230710705C=	CA1144166944	AGT	c.119G= (p.Ser40=) n.630G= c.146G= (p.Ser49=)
1	g.230710705C>G	CA345207593	AGT	c.119G>C (p.Ser40Thr) n.630G>C c.146G>C (p.Ser49Thr)
1	g.230710705C>T	CA1448374	AGT	c.119G>A (p.Ser40Asn) n.630G>A c.146G>A (p.Ser49Asn)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.230710706T>A	CA345207596	AGT	c.118A>T (p.Ser40Cys) n.629A>T c.145A>T (p.Ser49Cys)
1	g.230710706T>C	CA1448375	AGT	c.118A>G (p.Ser40Gly) n.629A>G c.145A>G (p.Ser49Gly)	dbSNP ExAC gnomAD v2 gnomAD v4
1	g.230710706T>G	CA345207598	AGT	c.118A>C (p.Ser40Arg) n.629A>C c.145A>C (p.Ser49Arg)	gnomAD v4
1	g.230710706T=	CA1226658788	AGT	c.118A= (p.Ser40=) n.629A= c.145A= (p.Ser49=)
1	g.230710707C>A	CA345207600	AGT	c.117G>T (p.Glu39Asp) n.628G>T c.144G>T (p.Glu48Asp)
1	g.230710707C=	CA1226658793	AGT	c.117G= (p.Glu39=) n.628G= c.144G= (p.Glu48=)
1	g.230710707C>G	CA345207601	AGT	c.117G>C (p.Glu39Asp) n.628G>C c.144G>C (p.Glu48Asp)	gnomAD v4
1	g.230710707C>T	CA1448376	AGT	c.117G>A (p.Glu39=) n.628G>A c.144G>A (p.Glu48=)	dbSNP ExAC gnomAD v2
1	g.230710708T>A	CA345207604	AGT	c.116A>T (p.Glu39Val) n.627A>T c.143A>T (p.Glu48Val)
1	g.230710708T>C	CA345207606	AGT	c.116A>G (p.Glu39Gly) n.627A>G c.143A>G (p.Glu48Gly)
1	g.230710708T>G	CA345207607	AGT	c.116A>C (p.Glu39Ala) n.627A>C c.143A>C (p.Glu48Ala)	gnomAD v4
1	g.230710709C>A	CA345207609	AGT	c.115G>T (p.Glu39Ter) n.626G>T c.142G>T (p.Glu48Ter)
1	g.230710709C=	CA1226658794	AGT	c.115G= (p.Glu39=) n.626G= c.142G= (p.Glu48=)
1	g.230710709C>G	CA345207611	AGT	c.115G>C (p.Glu39Gln) n.626G>C c.142G>C (p.Glu48Gln)
1	g.230710709C>T	CA1448377	AGT	c.115G>A (p.Glu39Lys) n.626G>A c.142G>A (p.Glu48Lys)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1	g.230710710A>C	CA345207612	AGT	c.114T>G (p.Asn38Lys) n.625T>G c.141T>G (p.Asn47Lys)
1	g.230710710A>G	CA424036961	AGT	c.114T>C (p.Asn38=) n.625T>C c.141T>C (p.Asn47=)	dbSNP gnomAD v4
1	g.230710710A>T	CA345207613	AGT	c.114T>A (p.Asn38Lys) n.625T>A c.141T>A (p.Asn47Lys)
1	g.230710711T>A	CA345207614	AGT	c.113A>T (p.Asn38Ile) n.624A>T c.140A>T (p.Asn47Ile)
1	g.230710711T>C	CA38872379	AGT	c.113A>G (p.Asn38Ser) n.624A>G c.140A>G (p.Asn47Ser)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1	g.230710711T>G	CA345207615	AGT	c.113A>C (p.Asn38Thr) n.624A>C c.140A>C (p.Asn47Thr)
1	g.230710711T=	CA1226658798	AGT	c.113A= (p.Asn38=) n.624A= c.140A= (p.Asn47=)
1	g.230710712del	CA2650971418	AGT	c.113del (p.Asn38MetfsTer?) n.624del c.140del (p.Asn47MetfsTer?)	gnomAD v4
1	g.230710712T>A	CA345207618	AGT	c.112A>T (p.Asn38Tyr) n.623A>T c.139A>T (p.Asn47Tyr)
1	g.230710712T>C	CA345207619	AGT	c.112A>G (p.Asn38Asp) n.623A>G c.139A>G (p.Asn47Asp)
1	g.230710712T>G	CA1448378	AGT	c.112A>C (p.Asn38His) n.623A>C c.139A>C (p.Asn47His)	dbSNP ExAC gnomAD v4
1	g.230710712T=	CA1226658800	AGT	c.112A= (p.Asn38=) n.623A= c.139A= (p.Asn47=)
1	g.230710713G>A	CA424036965	AGT	c.111C>T (p.His37=) n.622C>T c.138C>T (p.His46=)	gnomAD v4
1	g.230710713G>C	CA345207621	AGT	c.111C>G (p.His37Gln) n.622C>G c.138C>G (p.His46Gln)
1	g.230710713G>T	CA345207622	AGT	c.111C>A (p.His37Gln) n.622C>A c.138C>A (p.His46Gln)
1	g.230710714T>A	CA345207625	AGT	c.110A>T (p.His37Leu) n.621A>T c.137A>T (p.His46Leu)
1	g.230710714T>C	CA345207626	AGT	c.110A>G (p.His37Arg) n.621A>G c.137A>G (p.His46Arg)
1	g.230710714T>G	CA345207628	AGT	c.110A>C (p.His37Pro) n.621A>C c.137A>C (p.His46Pro)
1	g.230710715G>A	CA345207630	AGT	c.109C>T (p.His37Tyr) n.620C>T c.136C>T (p.His46Tyr)
1	g.230710715G>C	CA345207631	AGT	c.109C>G (p.His37Asp) n.620C>G c.136C>G (p.His46Asp)
1	g.230710715G>T	CA345207633	AGT	c.109C>A (p.His37Asn) n.620C>A c.136C>A (p.His46Asn)
1	g.230710716G>A	CA424036968	AGT	c.108C>T (p.Ile36=) n.619C>T c.135C>T (p.Ile45=)	gnomAD v4
1	g.230710716G>C	CA345207634	AGT	c.108C>G (p.Ile36Met) n.619C>G c.135C>G (p.Ile45Met)
1	g.230710716G=	CA1226658803	AGT	c.108C= (p.Ile36=) n.619C= c.135C= (p.Ile45=)
1	g.230710716G>T	CA1448379	AGT	c.108C>A (p.Ile36=) n.619C>A c.135C>A (p.Ile45=)	dbSNP ExAC gnomAD v2 gnomAD v4
1	g.230710717A>C	CA345207637	AGT	c.107T>G (p.Ile36Ser) n.618T>G c.134T>G (p.Ile45Ser)
1	g.230710717A>G	CA345207640	AGT	c.107T>C (p.Ile36Thr) n.618T>C c.134T>C (p.Ile45Thr)
1	g.230710717A>T	CA345207638	AGT	c.107T>A (p.Ile36Asn) n.618T>A c.134T>A (p.Ile45Asn)
1	g.230710718T>A	CA345207642	AGT	c.106A>T (p.Ile36Phe) n.617A>T c.133A>T (p.Ile45Phe)
1	g.230710718T>C	CA345207643	AGT	c.106A>G (p.Ile36Val) n.617A>G c.133A>G (p.Ile45Val)
1	g.230710718T>G	CA345207645	AGT	c.106A>C (p.Ile36Leu) n.617A>C c.133A>C (p.Ile45Leu)
1	g.230710719G>A	CA424036973	AGT	c.105C>T (p.Val35=) n.616C>T c.132C>T (p.Val44=)
1	g.230710719G>C	CA424036974	AGT	c.105C>G (p.Val35=) n.616C>G c.132C>G (p.Val44=)
1	g.230710719G>T	CA424036975	AGT	c.105C>A (p.Val35=) n.616C>A c.132C>A (p.Val44=)	ClinVar
1	g.230710720A>C	CA345207647	AGT	c.104T>G (p.Val35Gly) n.615T>G c.131T>G (p.Val44Gly)
1	g.230710720A>G	CA345207649	AGT	c.104T>C (p.Val35Ala) n.615T>C c.131T>C (p.Val44Ala)
1	g.230710720A>T	CA345207650	AGT	c.104T>A (p.Val35Asp) n.615T>A c.131T>A (p.Val44Asp)
1	g.230710721C>A	CA38872393	AGT	c.103G>T (p.Val35Phe) n.614G>T c.130G>T (p.Val44Phe)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1	g.230710721C=	CA1142137020	AGT	c.103G= (p.Val35=) n.614G= c.130G= (p.Val44=)
1	g.230710721C>G	CA345207654	AGT	c.103G>C (p.Val35Leu) n.614G>C c.130G>C (p.Val44Leu)	dbSNP
1	g.230710721C>T	CA1448380	AGT	c.103G>A (p.Val35Ile) n.614G>A c.130G>A (p.Val44Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.230710722G>A	CA38872403	AGT	c.102C>T (p.Leu34=) n.613C>T c.129C>T (p.Leu43=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1	g.230710722G>C	CA424036980	AGT	c.102C>G (p.Leu34=) n.613C>G c.129C>G (p.Leu43=)
1	g.230710722G=	CA1143723358	AGT	c.102C= (p.Leu34=) n.613C= c.129C= (p.Leu43=)
1	g.230710722G>T	CA424036981	AGT	c.102C>A (p.Leu34=) n.613C>A c.129C>A (p.Leu43=)	dbSNP gnomAD v3 gnomAD v4
1	g.230710723A=	CA1226658817	AGT	c.101T= (p.Leu34=) n.612T= c.128T= (p.Leu43=)
1	g.230710723A>C	CA345207659	AGT	c.101T>G (p.Leu34Arg) n.612T>G c.128T>G (p.Leu43Arg)	dbSNP gnomAD v2 gnomAD v4
1	g.230710723A>G	CA345207660	AGT	c.101T>C (p.Leu34Pro) n.612T>C c.128T>C (p.Leu43Pro)
1	g.230710723A>T	CA345207657	AGT	c.101T>A (p.Leu34His) n.612T>A c.128T>A (p.Leu43His)
1	g.230710724G>A	CA1448381	AGT	c.100C>T (p.Leu34Phe) n.611C>T c.127C>T (p.Leu43Phe)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.230710724G>C	CA345207663	AGT	c.100C>G (p.Leu34Val) n.611C>G c.127C>G (p.Leu43Val)
1	g.230710724G=	CA1140611018	AGT	c.100C= (p.Leu34=) n.611C= c.127C= (p.Leu43=)
1	g.230710724G>T	CA345207665	AGT	c.100C>A (p.Leu34Ile) n.611C>A c.127C>A (p.Leu43Ile)
1	g.230710725G>A	CA1448382	AGT	c.99C>T (p.His33=) n.610C>T c.126C>T (p.His42=)	dbSNP ExAC gnomAD v2 gnomAD v4
1	g.230710725G>C	CA1448383	AGT	c.99C>G (p.His33Gln) n.610C>G c.126C>G (p.His42Gln)	dbSNP ExAC gnomAD v2 gnomAD v4
1	g.230710725G=	CA1226658824	AGT	c.99C= (p.His33=) n.610C= c.126C= (p.His42=)
1	g.230710725G>T	CA345207668	AGT	c.99C>A (p.His33Gln) n.610C>A c.126C>A (p.His42Gln)
1	g.230710726T>A	CA345207671	AGT	c.98A>T (p.His33Leu) n.609A>T c.125A>T (p.His42Leu)
1	g.230710726T>C	CA345207672	AGT	c.98A>G (p.His33Arg) n.609A>G c.125A>G (p.His42Arg)
1	g.230710726T>G	CA345207673	AGT	c.98A>C (p.His33Pro) n.609A>C c.125A>C (p.His42Pro)
1	g.230710727G>A	CA345207674	AGT	c.97C>T (p.His33Tyr) n.608C>T c.124C>T (p.His42Tyr)
1	g.230710727G>C	CA345207676	AGT	c.97C>G (p.His33Asp) n.608C>G c.124C>G (p.His42Asp)
1	g.230710727G>T	CA345207678	AGT	c.97C>A (p.His33Asn) n.608C>A c.124C>A (p.His42Asn)
1	g.230710728G>A	CA424036990	AGT	c.96C>T (p.Phe32=) n.607C>T c.123C>T (p.Phe41=)
1	g.230710728G>C	CA345207679	AGT	c.96C>G (p.Phe32Leu) n.607C>G c.123C>G (p.Phe41Leu)
1	g.230710728G>T	CA345207681	AGT	c.96C>A (p.Phe32Leu) n.607C>A c.123C>A (p.Phe41Leu)
1	g.230710729A>C	CA345207686	AGT	c.95T>G (p.Phe32Cys) n.606T>G c.122T>G (p.Phe41Cys)
1	g.230710729A>G	CA345207685	AGT	c.95T>C (p.Phe32Ser) n.606T>C c.122T>C (p.Phe41Ser)	gnomAD v4
1	g.230710729A>T	CA345207683	AGT	c.95T>A (p.Phe32Tyr) n.606T>A c.122T>A (p.Phe41Tyr)
1	g.230710730A>C	CA345207688	AGT	c.94T>G (p.Phe32Val) n.605T>G c.121T>G (p.Phe41Val)
1	g.230710730A>G	CA345207690	AGT	c.94T>C (p.Phe32Leu) n.605T>C c.121T>C (p.Phe41Leu)	gnomAD v4
1	g.230710730A>T	CA345207692	AGT	c.94T>A (p.Phe32Ile) n.605T>A c.121T>A (p.Phe41Ile)
1	g.230710731G>A	CA424036993	AGT	c.93C>T (p.Pro31=) n.604C>T c.120C>T (p.Pro40=)	gnomAD v4
1	g.230710731G>C	CA424036994	AGT	c.93C>G (p.Pro31=) n.604C>G c.120C>G (p.Pro40=)	dbSNP gnomAD v3 gnomAD v4
1	g.230710731G=	CA1226658828	AGT	c.93C= (p.Pro31=) n.604C= c.120C= (p.Pro40=)
1	g.230710731G>T	CA424036995	AGT	c.93C>A (p.Pro31=) n.604C>A c.120C>A (p.Pro40=)
1	g.230710732G>A	CA1448384	AGT	c.92C>T (p.Pro31Leu) n.603C>T c.119C>T (p.Pro40Leu)	dbSNP ExAC gnomAD v2 gnomAD v4
1	g.230710732G>C	CA345207694	AGT	c.92C>G (p.Pro31Arg) n.603C>G c.119C>G (p.Pro40Arg)
1	g.230710732G=	CA1148399829	AGT	c.92C= (p.Pro31=) n.603C= c.119C= (p.Pro40=)
1	g.230710732G>T	CA345207696	AGT	c.92C>A (p.Pro31His) n.603C>A c.119C>A (p.Pro40His)	gnomAD v4
1	g.230710733G>A	CA345207698	AGT	c.91C>T (p.Pro31Ser) n.602C>T c.118C>T (p.Pro40Ser)
1	g.230710733G>C	CA345207700	AGT	c.91C>G (p.Pro31Ala) n.602C>G c.118C>G (p.Pro40Ala)
1	g.230710733G=	CA1226658839	AGT	c.91C= (p.Pro31=) n.602C= c.118C= (p.Pro40=)
1	g.230710733G>T	CA38872442	AGT	c.91C>A (p.Pro31Thr) n.602C>A c.118C>A (p.Pro40Thr)	dbSNP gnomAD v3 gnomAD v4
1	g.230710734G>A	CA1448385	AGT	c.90C>T (p.His30=) n.601C>T c.117C>T (p.His39=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.230710734G>C	CA345207703	AGT	c.90C>G (p.His30Gln) n.601C>G c.117C>G (p.His39Gln)
1	g.230710734G=	CA1144110391	AGT	c.90C= (p.His30=) n.601C= c.117C= (p.His39=)
1	g.230710734G>T	CA345207704	AGT	c.90C>A (p.His30Gln) n.601C>A c.117C>A (p.His39Gln)
1	g.230710735T>A	CA345207708	AGT	c.89A>T (p.His30Leu) n.600A>T c.116A>T (p.His39Leu)
1	g.230710735T>C	CA38872445	AGT	c.89A>G (p.His30Arg) n.600A>G c.116A>G (p.His39Arg)	dbSNP gnomAD v4
1	g.230710735T>G	CA345207706	AGT	c.89A>C (p.His30Pro) n.600A>C c.116A>C (p.His39Pro)	dbSNP
1	g.230710735T=	CA1145147796	AGT	c.89A= (p.His30=) n.600A= c.116A= (p.His39=)
1	g.230710736G>A	CA345207711	AGT	c.88C>T (p.His30Tyr) n.599C>T c.115C>T (p.His39Tyr)	dbSNP gnomAD v2 gnomAD v4
1	g.230710736G>C	CA345207712	AGT	c.88C>G (p.His30Asp) n.599C>G c.115C>G (p.His39Asp)
1	g.230710736G=	CA1226658845	AGT	c.88C= (p.His30=) n.599C= c.115C= (p.His39=)
1	g.230710736G>T	CA345207714	AGT	c.88C>A (p.His30Asn) n.599C>A c.115C>A (p.His39Asn)
1	g.230710737T>A	CA424037003	AGT	c.87A>T (p.Ile29=) n.598A>T c.114A>T (p.Ile38=)
1	g.230710737T>C	CA345207716	AGT	c.87A>G (p.Ile29Met) n.598A>G c.114A>G (p.Ile38Met)
1	g.230710737T>G	CA424037004	AGT	c.87A>C (p.Ile29=) n.598A>C c.114A>C (p.Ile38=)	gnomAD v4
1	g.230710738A>C	CA345207718	AGT	c.86T>G (p.Ile29Arg) n.597T>G c.113T>G (p.Ile38Arg)
1	g.230710738A>G	CA345207720	AGT	c.86T>C (p.Ile29Thr) n.597T>C c.113T>C (p.Ile38Thr)
1	g.230710738A>T	CA345207722	AGT	c.86T>A (p.Ile29Lys) n.597T>A c.113T>A (p.Ile38Lys)	COSMIC
1	g.230710739T>A	CA345207723	AGT	c.85A>T (p.Ile29Leu) n.596A>T c.112A>T (p.Ile38Leu)
1	g.230710739T>C	CA345207725	AGT	c.85A>G (p.Ile29Val) n.596A>G c.112A>G (p.Ile38Val)	gnomAD v4
1	g.230710739T>G	CA38872450	AGT	c.85A>C (p.Ile29Leu) n.596A>C c.112A>C (p.Ile38Leu)	dbSNP gnomAD v3 gnomAD v4
1	g.230710739T=	CA1226658851	AGT	c.85A= (p.Ile29=) n.596A= c.112A= (p.Ile38=)
1	g.230710739_230710740delinsTG	CA1226658850	AGT	c.84_85delinsCA (p.Tyr28=) n.595_596delinsCA c.111_112delinsCA (p.Tyr37=)
1	g.230710740del	CA1013240076	AGT	c.84del (p.Tyr28Ter) n.595del c.111del (p.Tyr37Ter)	dbSNP gnomAD v3 gnomAD v4
1	g.230710740G>A	CA424037010	AGT	c.84C>T (p.Tyr28=) n.595C>T c.111C>T (p.Tyr37=)	gnomAD v4 COSMIC
1	g.230710740G>C	CA345207727	AGT	c.84C>G (p.Tyr28Ter) n.595C>G c.111C>G (p.Tyr37Ter)
1	g.230710740G>T	CA345207728	AGT	c.84C>A (p.Tyr28Ter) n.595C>A c.111C>A (p.Tyr37Ter)
1	g.230710741T>A	CA345207733	AGT	c.83A>T (p.Tyr28Phe) n.594A>T c.110A>T (p.Tyr37Phe)
1	g.230710741T>C	CA345207734	AGT	c.83A>G (p.Tyr28Cys) n.594A>G c.110A>G (p.Tyr37Cys)
1	g.230710741T>G	CA345207731	AGT	c.83A>C (p.Tyr28Ser) n.594A>C c.110A>C (p.Tyr37Ser)
1	g.230710742A>C	CA345207736	AGT	c.82T>G (p.Tyr28Asp) n.593T>G c.109T>G (p.Tyr37Asp)
1	g.230710742A>G	CA345207738	AGT	c.82T>C (p.Tyr28His) n.593T>C c.109T>C (p.Tyr37His)
1	g.230710742A>T	CA345207740	AGT	c.82T>A (p.Tyr28Asn) n.593T>A c.109T>A (p.Tyr37Asn)	gnomAD v4
1	g.230710743C>A	CA424037016	AGT	c.81G>T (p.Val27=) n.592G>T c.108G>T (p.Val36=)
1	g.230710743C>G	CA424037018	AGT	c.81G>C (p.Val27=) n.592G>C c.108G>C (p.Val36=)
1	g.230710743C>T	CA424037019	AGT	c.81G>A (p.Val27=) n.592G>A c.108G>A (p.Val36=)
1	g.230710744A=	CA1226658858	AGT	c.80T= (p.Val27=) n.591T= c.107T= (p.Val36=)
1	g.230710744A>C	CA345207741	AGT	c.80T>G (p.Val27Gly) n.591T>G c.107T>G (p.Val36Gly)	dbSNP
1	g.230710744A>G	CA345207742	AGT	c.80T>C (p.Val27Ala) n.591T>C c.107T>C (p.Val36Ala)
1	g.230710744A>T	CA345207744	AGT	c.80T>A (p.Val27Glu) n.591T>A c.107T>A (p.Val36Glu)
1	g.230710745C>A	CA345207746	AGT	c.79G>T (p.Val27Leu) n.590G>T c.106G>T (p.Val36Leu)
1	g.230710745C=	CA1226658859	AGT	c.79G= (p.Val27=) n.590G= c.106G= (p.Val36=)
1	g.230710745C>G	CA345207749	AGT	c.79G>C (p.Val27Leu) n.590G>C c.106G>C (p.Val36Leu)	dbSNP gnomAD v2 gnomAD v4
1	g.230710745C>T	CA345207748	AGT	c.79G>A (p.Val27Met) n.590G>A c.106G>A (p.Val36Met)
1	g.230710746C>A	CA424037026	AGT	c.78G>T (p.Arg26=) n.589G>T c.105G>T (p.Arg35=)
1	g.230710746C>G	CA424037027	AGT	c.78G>C (p.Arg26=) n.589G>C c.105G>C (p.Arg35=)
1	g.230710746C>T	CA424037029	AGT	c.78G>A (p.Arg26=) n.589G>A c.105G>A (p.Arg35=)
1	g.230710747C>A	CA345207752	AGT	c.77G>T (p.Arg26Leu) n.588G>T c.104G>T (p.Arg35Leu)
1	g.230710747C=	CA1226658864	AGT	c.77G= (p.Arg26=) n.588G= c.104G= (p.Arg35=)
1	g.230710747C>G	CA345207754	AGT	c.77G>C (p.Arg26Pro) n.588G>C c.104G>C (p.Arg35Pro)
1	g.230710747C>T	CA1448386	AGT	c.77G>A (p.Arg26Gln) n.588G>A c.104G>A (p.Arg35Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.230710748G>A	CA1448387	AGT	c.76C>T (p.Arg26Trp) n.587C>T c.103C>T (p.Arg35Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.230710748G>C	CA345207757	AGT	c.76C>G (p.Arg26Gly) n.587C>G c.103C>G (p.Arg35Gly)
1	g.230710748G=	CA1226658871	AGT	c.76C= (p.Arg26=) n.587C= c.103C= (p.Arg35=)
1	g.230710748G>T	CA424037032	AGT	c.76C>A (p.Arg26=) n.587C>A c.103C>A (p.Arg35=)
1	g.230710749G>A	CA424037035	AGT	c.75C>T (p.Asp25=) n.586C>T c.102C>T (p.Asp34=)	gnomAD v4
1	g.230710749G>C	CA345207760	AGT	c.75C>G (p.Asp25Glu) n.586C>G c.102C>G (p.Asp34Glu)
1	g.230710749G>T	CA345207759	AGT	c.75C>A (p.Asp25Glu) n.586C>A c.102C>A (p.Asp34Glu)
1	g.230710750T>A	CA345207762	AGT	c.74A>T (p.Asp25Val) n.585A>T c.101A>T (p.Asp34Val)
1	g.230710750T>C	CA345207766	AGT	c.74A>G (p.Asp25Gly) n.585A>G c.101A>G (p.Asp34Gly)
1	g.230710750T>G	CA345207764	AGT	c.74A>C (p.Asp25Ala) n.585A>C c.101A>C (p.Asp34Ala)
1	g.230710751C>A	CA345207767	AGT	c.73G>T (p.Asp25Tyr) n.584G>T c.100G>T (p.Asp34Tyr)	gnomAD v4
1	g.230710751C>G	CA345207768	AGT	c.73G>C (p.Asp25His) n.584G>C c.100G>C (p.Asp34His)
1	g.230710751C>T	CA345207770	AGT	c.73G>A (p.Asp25Asn) n.584G>A c.100G>A (p.Asp34Asn)
1	g.230710752A=	CA1226658878	AGT	c.72T= (p.Gly24=) n.583T= c.99T= (p.Gly33=)
1	g.230710752A>C	CA424037043	AGT	c.72T>G (p.Gly24=) n.583T>G c.99T>G (p.Gly33=)	dbSNP
1	g.230710752A>G	CA424037044	AGT	c.72T>C (p.Gly24=) n.583T>C c.99T>C (p.Gly33=)
1	g.230710752A>T	CA424037046	AGT	c.72T>A (p.Gly24=) n.583T>A c.99T>A (p.Gly33=)
1	g.230710752_230710753delinsAC	CA1226658874	AGT	c.71_72delinsGT (p.Gly24=) n.582_583delinsGT c.98_99delinsGT (p.Gly33=)
1	g.230710753C>A	CA345207772	AGT	c.71G>T (p.Gly24Val) n.582G>T c.98G>T (p.Gly33Val)
1	g.230710753C>G	CA345207774	AGT	c.71G>C (p.Gly24Ala) n.582G>C c.98G>C (p.Gly33Ala)
1	g.230710753C>T	CA345207775	AGT	c.71G>A (p.Gly24Asp) n.582G>A c.98G>A (p.Gly33Asp)
1	g.230710754del	CA1226658882	AGT	c.71del (p.Gly24ValfsTer?) n.582del c.98del (p.Gly33ValfsTer?)	dbSNP
1	g.230710754C>A	CA345207777	AGT	c.70G>T (p.Gly24Cys) n.581G>T c.97G>T (p.Gly33Cys)
1	g.230710754C=	CA1226658884	AGT	c.70G= (p.Gly24=) n.581G= c.97G= (p.Gly33=)
1	g.230710754C>G	CA345207779	AGT	c.70G>C (p.Gly24Arg) n.581G>C c.97G>C (p.Gly33Arg)
1	g.230710754C>T	CA1448388	AGT	c.70G>A (p.Gly24Ser) n.581G>A c.97G>A (p.Gly33Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
1	g.230710755T>A	CA424037051	AGT	c.69A>T (p.Ala23=) n.580A>T c.96A>T (p.Ala32=)
1	g.230710755T>C	CA424037055	AGT	c.69A>G (p.Ala23=) n.580A>G c.96A>G (p.Ala32=)
1	g.230710755T>G	CA424037052	AGT	c.69A>C (p.Ala23=) n.580A>C c.96A>C (p.Ala32=)
1	g.230710756G>A	CA345207781	AGT	c.68C>T (p.Ala23Val) n.579C>T c.95C>T (p.Ala32Val)
1	g.230710756G>C	CA345207783	AGT	c.68C>G (p.Ala23Gly) n.579C>G c.95C>G (p.Ala32Gly)
1	g.230710756G>T	CA345207785	AGT	c.68C>A (p.Ala23Glu) n.579C>A c.95C>A (p.Ala32Glu)
1	g.230710757C>A	CA345207791	AGT	c.67G>T (p.Ala23Ser) n.578G>T c.94G>T (p.Ala32Ser)	dbSNP
1	g.230710757C=	CA1226658887	AGT	c.67G= (p.Ala23=) n.578G= c.94G= (p.Ala32=)
1	g.230710757C>G	CA345207789	AGT	c.67G>C (p.Ala23Pro) n.578G>C c.94G>C (p.Ala32Pro)
1	g.230710757C>T	CA345207787	AGT	c.67G>A (p.Ala23Thr) n.578G>A c.94G>A (p.Ala32Thr)	gnomAD v4
1	g.230710758A>C	CA424037062	AGT	c.66T>G (p.Ala22=) n.577T>G c.93T>G (p.Ala31=)
1	g.230710758A>G	CA424037063	AGT	c.66T>C (p.Ala22=) n.577T>C c.93T>C (p.Ala31=)	COSMIC
1	g.230710758A>T	CA424037064	AGT	c.66T>A (p.Ala22=) n.577T>A c.93T>A (p.Ala31=)
1	g.230710759_230710760insAAG	CA2650971419	AGT	c.66_67insTCT (p.Ala22_Ala23insSer) n.577_578insTCT c.93_94insTCT (p.Ala31_Ala32insSer)	gnomAD v4
1	g.230710759G>A	CA345207792	AGT	c.65C>T (p.Ala22Val) n.576C>T c.92C>T (p.Ala31Val)
1	g.230710759G>C	CA1448389	AGT	c.65C>G (p.Ala22Gly) n.576C>G c.92C>G (p.Ala31Gly)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.230710759G=	CA1142335807	AGT	c.65C= (p.Ala22=) n.576C= c.92C= (p.Ala31=)
1	g.230710759G>T	CA345207795	AGT	c.65C>A (p.Ala22Asp) n.576C>A c.92C>A (p.Ala31Asp)
1	g.230710759_230710760insAAGCTATACTCAGGAAAATCTGATGGGGACAAAAATCAATTGATTAATTAGCTCTTTATTATAAGCTTTAAATGGAAAAGAATCTAT	CA2650971420	AGT	c.64_65insATAGATTCTTTTCCATTTAAAGCTTATAATAAAGAGCTAATTAATCAATTGATTTTTGTCCCCATCAGATTTTCCTGAGTATAGCTT (p.Ala22AspfsTer7) n.575_576insATAGATTCTTTTCCATTTAAAGCTTATAATAAAGAGCTAATTAATCAATTGATTTTTGTCCCCATCAGATTTTCCTGAGTATAGCTT c.91_92insATAGATTCTTTTCCATTTAAAGCTTATAATAAAGAGCTAATTAATCAATTGATTTTTGTCCCCATCAGATTTTCCTGAGTATAGCTT (p.Ala31AspfsTer7)	gnomAD v4
1	g.230710760C>A	CA345207796	AGT	c.64G>T (p.Ala22Ser) n.575G>T c.91G>T (p.Ala31Ser)
1	g.230710760C=	CA1226658896	AGT	c.64G= (p.Ala22=) n.575G= c.91G= (p.Ala31=)
1	g.230710760C>G	CA345207797	AGT	c.64G>C (p.Ala22Pro) n.575G>C c.91G>C (p.Ala31Pro)
1	g.230710760C>T	CA1448390	AGT	c.64G>A (p.Ala22Thr) n.575G>A c.91G>A (p.Ala31Thr)	dbSNP ExAC gnomAD v2 gnomAD v4
1	g.230710760_230710761insTATACT	CA2650971421	AGT	c.63_64insAGTATA (p.Leu21_Ala22insSerIle) n.574_575insAGTATA c.90_91insAGTATA (p.Leu30_Ala31insSerIle)	gnomAD v4
1	g.230710761C>A	CA424037070	AGT	c.63G>T (p.Leu21=) n.574G>T c.90G>T (p.Leu30=)
1	g.230710761C>G	CA424037072	AGT	c.63G>C (p.Leu21=) n.574G>C c.90G>C (p.Leu30=)
1	g.230710761C>T	CA424037071	AGT	c.63G>A (p.Leu21=) n.574G>A c.90G>A (p.Leu30=)
1	g.230710762A>C	CA345207799	AGT	c.62T>G (p.Leu21Arg) n.573T>G c.89T>G (p.Leu30Arg)
1	g.230710762A>G	CA345207801	AGT	c.62T>C (p.Leu21Pro) n.573T>C c.89T>C (p.Leu30Pro)	gnomAD v4
1	g.230710762A>T	CA345207803	AGT	c.62T>A (p.Leu21Gln) n.573T>A c.89T>A (p.Leu30Gln)
1	g.230710763G>A	CA424037077	AGT	c.61C>T (p.Leu21=) n.572C>T c.88C>T (p.Leu30=)	dbSNP gnomAD v3 gnomAD v4
1	g.230710763G>C	CA345207804	AGT	c.61C>G (p.Leu21Val) n.572C>G c.88C>G (p.Leu30Val)
1	g.230710763G=	CA1226658898	AGT	c.61C= (p.Leu21=) n.572C= c.88C= (p.Leu30=)
1	g.230710763G>T	CA345207805	AGT	c.61C>A (p.Leu21Met) n.572C>A c.88C>A (p.Leu30Met)
1	g.230710764G>A	CA424037080	AGT	c.60C>T (p.Gly20=) n.571C>T c.87C>T (p.Gly29=)
1	g.230710764G>C	CA424037081	AGT	c.60C>G (p.Gly20=) n.571C>G c.87C>G (p.Gly29=)
1	g.230710764G=	CA1226658916	AGT	c.60C= (p.Gly20=) n.571C= c.87C= (p.Gly29=)
1	g.230710764G>T	CA1448391	AGT	c.60C>A (p.Gly20=) n.571C>A c.87C>A (p.Gly29=)	dbSNP ExAC gnomAD v2 gnomAD v4
1	g.230710765C>A	CA345207811	AGT	c.59G>T (p.Gly20Val) n.570G>T c.86G>T (p.Gly29Val)
1	g.230710765C=	CA1141936788	AGT	c.59G= (p.Gly20=) n.570G= c.86G= (p.Gly29=)
1	g.230710765C>G	CA345207809	AGT	c.59G>C (p.Gly20Ala) n.570G>C c.86G>C (p.Gly29Ala)
1	g.230710765C>T	CA1448392	AGT	c.59G>A (p.Gly20Asp) n.570G>A c.86G>A (p.Gly29Asp)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.230710769_230710773dup	CA2650971422	AGT	c.55_59dup (p.Ala23TrpfsTer?) n.566_570dup c.82_86dup (p.Ala32TrpfsTer?)	gnomAD v4
1	g.230710766C>A	CA345207813	AGT	c.58G>T (p.Gly20Cys) n.569G>T c.85G>T (p.Gly29Cys)
1	g.230710766C>G	CA345207814	AGT	c.58G>C (p.Gly20Arg) n.569G>C c.85G>C (p.Gly29Arg)
1	g.230710766C>T	CA345207815	AGT	c.58G>A (p.Gly20Ser) n.569G>A c.85G>A (p.Gly29Ser)
1	g.230710767A=	CA1226658924	AGT	c.57T= (p.Ala19=) n.568T= c.84T= (p.Ala28=)
1	g.230710767A>C	CA424037086	AGT	c.57T>G (p.Ala19=) n.568T>G c.84T>G (p.Ala28=)	dbSNP gnomAD v2 gnomAD v4
1	g.230710767A>G	CA424037087	AGT	c.57T>C (p.Ala19=) n.568T>C c.84T>C (p.Ala28=)
1	g.230710767A>T	CA424037089	AGT	c.57T>A (p.Ala19=) n.568T>A c.84T>A (p.Ala28=)
1	g.230710768G>A	CA345207817	AGT	c.56C>T (p.Ala19Val) n.567C>T c.83C>T (p.Ala28Val)	dbSNP gnomAD v2 gnomAD v4
1	g.230710768G>C	CA345207819	AGT	c.56C>G (p.Ala19Gly) n.567C>G c.83C>G (p.Ala28Gly)	dbSNP gnomAD v2 gnomAD v4
1	g.230710768G=	CA1226658929	AGT	c.56C= (p.Ala19=) n.567C= c.83C= (p.Ala28=)
1	g.230710768G>T	CA345207820	AGT	c.56C>A (p.Ala19Asp) n.567C>A c.83C>A (p.Ala28Asp)
1	g.230710769C>A	CA345207825	AGT	c.55G>T (p.Ala19Ser) n.566G>T c.82G>T (p.Ala28Ser)
1	g.230710769C=	CA1226658932	AGT	c.55G= (p.Ala19=) n.566G= c.82G= (p.Ala28=)
1	g.230710769C>G	CA1448393	AGT	c.55G>C (p.Ala19Pro) n.566G>C c.82G>C (p.Ala28Pro)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.230710769C>T	CA345207823	AGT	c.55G>A (p.Ala19Thr) n.566G>A c.82G>A (p.Ala28Thr)
1	g.230710770C>A	CA345207827	AGT	c.54G>T (p.Trp18Cys) n.565G>T c.81G>T (p.Trp27Cys)
1	g.230710770C>G	CA345207829	AGT	c.54G>C (p.Trp18Cys) n.565G>C c.81G>C (p.Trp27Cys)
1	g.230710770C>T	CA345207831	AGT	c.54G>A (p.Trp18Ter) n.565G>A c.81G>A (p.Trp27Ter)
1	g.230710771C>A	CA345207833	AGT	c.53G>T (p.Trp18Leu) n.564G>T c.80G>T (p.Trp27Leu)
1	g.230710771C>G	CA345207834	AGT	c.53G>C (p.Trp18Ser) n.564G>C c.80G>C (p.Trp27Ser)
1	g.230710771C>T	CA345207836	AGT	c.53G>A (p.Trp18Ter) n.564G>A c.80G>A (p.Trp27Ter)	ClinVar
1	g.230710772A>C	CA345207838	AGT	c.52T>G (p.Trp18Gly) n.563T>G c.79T>G (p.Trp27Gly)
1	g.230710772A>G	CA345207842	AGT	c.52T>C (p.Trp18Arg) n.563T>C c.79T>C (p.Trp27Arg)	gnomAD v4
1	g.230710772A>T	CA345207840	AGT	c.52T>A (p.Trp18Arg) n.563T>A c.79T>A (p.Trp27Arg)
1	g.230710773G>A	CA424037092	AGT	c.51C>T (p.Ala17=) n.562C>T c.78C>T (p.Ala26=)	gnomAD v4
1	g.230710773G>C	CA424037094	AGT	c.51C>G (p.Ala17=) n.562C>G c.78C>G (p.Ala26=)
1	g.230710773G>T	CA424037096	AGT	c.51C>A (p.Ala17=) n.562C>A c.78C>A (p.Ala26=)
1	g.230710774G>A	CA345207844	AGT	c.50C>T (p.Ala17Val) n.561C>T c.77C>T (p.Ala26Val)
1	g.230710774G>C	CA345207845	AGT	c.50C>G (p.Ala17Gly) n.561C>G c.77C>G (p.Ala26Gly)
1	g.230710774G>T	CA345207847	AGT	c.50C>A (p.Ala17Asp) n.561C>A c.77C>A (p.Ala26Asp)
1	g.230710775C>A	CA345207849	AGT	c.49G>T (p.Ala17Ser) n.560G>T c.76G>T (p.Ala26Ser)
1	g.230710775C>G	CA345207851	AGT	c.49G>C (p.Ala17Pro) n.560G>C c.76G>C (p.Ala26Pro)
1	g.230710775C>T	CA345207852	AGT	c.49G>A (p.Ala17Thr) n.560G>A c.76G>A (p.Ala26Thr)
1	g.230710776C>A	CA424037098	AGT	c.48G>T (p.Leu16=) n.559G>T c.75G>T (p.Leu25=)
1	g.230710776C=	CA1226658937	AGT	c.48G= (p.Leu16=) n.559G= c.75G= (p.Leu25=)
1	g.230710776C>G	CA424037099	AGT	c.48G>C (p.Leu16=) n.559G>C c.75G>C (p.Leu25=)
1	g.230710776C>T	CA424037100	AGT	c.48G>A (p.Leu16=) n.559G>A c.75G>A (p.Leu25=)	dbSNP
1	g.230710777A>C	CA345207854	AGT	c.47T>G (p.Leu16Arg) n.558T>G c.74T>G (p.Leu25Arg)
1	g.230710777A>G	CA345207856	AGT	c.47T>C (p.Leu16Pro) n.558T>C c.74T>C (p.Leu25Pro)	gnomAD v4
1	g.230710777A>T	CA345207857	AGT	c.47T>A (p.Leu16Gln) n.558T>A c.74T>A (p.Leu25Gln)

Number of alleles fetched