Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.207611651G>CCA2573995967CR1c.6296-26G>C (n.6296-26G>C)
c.4946-26G>C (n.4946-26G>C)
c.1180-4924G>C
c.6311-26G>C (n.6311-26G>C)
c.4961-26G>C (n.4961-26G>C)
1g.207611652T>CCA2573653826CR1c.6296-25T>C (n.6296-25T>C)
c.4946-25T>C (n.4946-25T>C)
c.1180-4923T>C
c.6311-25T>C (n.6311-25T>C)
c.4961-25T>C (n.4961-25T>C)
1g.207611652T>GCA1370406CR1c.6296-25T>G (n.6296-25T>G)
c.4946-25T>G (n.4946-25T>G)
c.1180-4923T>G
c.6311-25T>G (n.6311-25T>G)
c.4961-25T>G (n.4961-25T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.207611652T=CA2483456509CR1c.6296-25T= (n.6296-25T=)
c.4946-25T= (n.4946-25T=)
c.1180-4923T=
c.6311-25T= (n.6311-25T=)
c.4961-25T= (n.4961-25T=)
1g.207611654C>ACA2650269911CR1c.6296-23C>A (n.6296-23C>A)
c.4946-23C>A (n.4946-23C>A)
c.1180-4921C>A
c.6311-23C>A (n.6311-23C>A)
c.4961-23C>A (n.4961-23C>A)
 gnomAD v4
1g.207611654C=CA2483456510CR1c.6296-23C= (n.6296-23C=)
c.4946-23C= (n.4946-23C=)
c.1180-4921C=
c.6311-23C= (n.6311-23C=)
c.4961-23C= (n.4961-23C=)
1g.207611654C>TCA1370407CR1c.6296-23C>T (n.6296-23C>T)
c.4946-23C>T (n.4946-23C>T)
c.1180-4921C>T
c.6311-23C>T (n.6311-23C>T)
c.4961-23C>T (n.4961-23C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.207611655T>CCA2483456512CR1c.6296-22T>C (n.6296-22T>C)
c.4946-22T>C (n.4946-22T>C)
c.1180-4920T>C
c.6311-22T>C (n.6311-22T>C)
c.4961-22T>C (n.4961-22T>C)
 dbSNP
1g.207611655T=CA2483456511CR1c.6296-22T= (n.6296-22T=)
c.4946-22T= (n.4946-22T=)
c.1180-4920T=
c.6311-22T= (n.6311-22T=)
c.4961-22T= (n.4961-22T=)
1g.207611656C>GCA2650269912CR1c.6296-21C>G (n.6296-21C>G)
c.4946-21C>G (n.4946-21C>G)
c.1180-4919C>G
c.6311-21C>G (n.6311-21C>G)
c.4961-21C>G (n.4961-21C>G)
 gnomAD v4
1g.207611657T>CCA1370408CR1c.6296-20T>C (n.6296-20T>C)
c.4946-20T>C (n.4946-20T>C)
c.1180-4918T>C
c.6311-20T>C (n.6311-20T>C)
c.4961-20T>C (n.4961-20T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.207611657T=CA2483456513CR1c.6296-20T= (n.6296-20T=)
c.4946-20T= (n.4946-20T=)
c.1180-4918T=
c.6311-20T= (n.6311-20T=)
c.4961-20T= (n.4961-20T=)
1g.207611660A>GCA2650269913CR1c.6296-17A>G (n.6296-17A>G)
c.4946-17A>G (n.4946-17A>G)
c.1180-4915A>G
c.6311-17A>G (n.6311-17A>G)
c.4961-17A>G (n.4961-17A>G)
 gnomAD v4
1g.207611661A>GCA2573995970CR1c.6296-16A>G (n.6296-16A>G)
c.4946-16A>G (n.4946-16A>G)
c.1180-4914A>G
c.6311-16A>G (n.6311-16A>G)
c.4961-16A>G (n.4961-16A>G)
1g.207611663T>ACA2650269914CR1c.6296-14T>A (n.6296-14T>A)
c.4946-14T>A (n.4946-14T>A)
c.1180-4912T>A
c.6311-14T>A (n.6311-14T>A)
c.4961-14T>A (n.4961-14T>A)
 gnomAD v4
1g.207611663T>CCA2650269915CR1c.6296-14T>C (n.6296-14T>C)
c.4946-14T>C (n.4946-14T>C)
c.1180-4912T>C
c.6311-14T>C (n.6311-14T>C)
c.4961-14T>C (n.4961-14T>C)
 gnomAD v4
1g.207611664G>CCA1370409CR1c.6296-13G>C (n.6296-13G>C)
c.4946-13G>C (n.4946-13G>C)
c.1180-4911G>C
c.6311-13G>C (n.6311-13G>C)
c.4961-13G>C (n.4961-13G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.207611664G=CA2483456514CR1c.6296-13G= (n.6296-13G=)
c.4946-13G= (n.4946-13G=)
c.1180-4911G=
c.6311-13G= (n.6311-13G=)
c.4961-13G= (n.4961-13G=)
1g.207611666_207611677delCA2650269916CR1c.6296-11_6296del
c.4946-11_4946del
c.1180-4909_1180-4898del
c.6311-11_6311del
c.4961-11_4961del
 gnomAD v4
1g.207611665T>CCA2573653827CR1c.6296-12T>C (n.6296-12T>C)
c.4946-12T>C (n.4946-12T>C)
c.1180-4910T>C
c.6311-12T>C (n.6311-12T>C)
c.4961-12T>C (n.4961-12T>C)
1g.207611665T>GCA528999497CR1c.6296-12T>G (n.6296-12T>G)
c.4946-12T>G (n.4946-12T>G)
c.1180-4910T>G
c.6311-12T>G (n.6311-12T>G)
c.4961-12T>G (n.4961-12T>G)
 dbSNP gnomAD v2 gnomAD v4
1g.207611665T=CA2483456515CR1c.6296-12T= (n.6296-12T=)
c.4946-12T= (n.4946-12T=)
c.1180-4910T=
c.6311-12T= (n.6311-12T=)
c.4961-12T= (n.4961-12T=)
1g.207611666C>ACA2483456517CR1c.6296-11C>A (n.6296-11C>A)
c.4946-11C>A (n.4946-11C>A)
c.1180-4909C>A
c.6311-11C>A (n.6311-11C>A)
c.4961-11C>A (n.4961-11C>A)
 dbSNP
1g.207611666C=CA2483456516CR1c.6296-11C= (n.6296-11C=)
c.4946-11C= (n.4946-11C=)
c.1180-4909C=
c.6311-11C= (n.6311-11C=)
c.4961-11C= (n.4961-11C=)
1g.207611667C>TCA2650269917CR1c.6296-10C>T (n.6296-10C>T)
c.4946-10C>T (n.4946-10C>T)
c.1180-4908C>T
c.6311-10C>T (n.6311-10C>T)
c.4961-10C>T (n.4961-10C>T)
 gnomAD v4
1g.207611668T>GCA528999498CR1c.6296-9T>G (n.6296-9T>G)
c.4946-9T>G (n.4946-9T>G)
c.1180-4907T>G
c.6311-9T>G (n.6311-9T>G)
c.4961-9T>G (n.4961-9T>G)
 dbSNP gnomAD v2 gnomAD v4
1g.207611668T=CA2483456518CR1c.6296-9T= (n.6296-9T=)
c.4946-9T= (n.4946-9T=)
c.1180-4907T=
c.6311-9T= (n.6311-9T=)
c.4961-9T= (n.4961-9T=)
1g.207611669T>ACA1370410CR1c.6296-8T>A (n.6296-8T>A)
c.4946-8T>A (n.4946-8T>A)
c.1180-4906T>A
c.6311-8T>A (n.6311-8T>A)
c.4961-8T>A (n.4961-8T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.207611669T>CCA2650269918CR1c.6296-8T>C (n.6296-8T>C)
c.4946-8T>C (n.4946-8T>C)
c.1180-4906T>C
c.6311-8T>C (n.6311-8T>C)
c.4961-8T>C (n.4961-8T>C)
 gnomAD v4
1g.207611669T=CA1143967111CR1c.6296-8T= (n.6296-8T=)
c.4946-8T= (n.4946-8T=)
c.1180-4906T=
c.6311-8T= (n.6311-8T=)
c.4961-8T= (n.4961-8T=)
1g.207611671C=CA2483456519CR1c.6296-6C= (n.6296-6C=)
c.4946-6C= (n.4946-6C=)
c.1180-4904C=
c.6311-6C= (n.6311-6C=)
c.4961-6C= (n.4961-6C=)
1g.207611671C>GCA1370411CR1c.6296-6C>G (n.6296-6C>G)
c.4946-6C>G (n.4946-6C>G)
c.1180-4904C>G
c.6311-6C>G (n.6311-6C>G)
c.4961-6C>G (n.4961-6C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.207611672C>TCA2650269919CR1c.6296-5C>T (n.6296-5C>T)
c.4946-5C>T (n.4946-5C>T)
c.1180-4903C>T
c.6311-5C>T (n.6311-5C>T)
c.4961-5C>T (n.4961-5C>T)
 gnomAD v4
1g.207611673A=CA2483456520CR1c.6296-4A= (n.6296-4A=)
c.4946-4A= (n.4946-4A=)
c.1180-4902A=
c.6311-4A= (n.6311-4A=)
c.4961-4A= (n.4961-4A=)
1g.207611673A>CCA1370412CR1c.6296-4A>C (n.6296-4A>C)
c.4946-4A>C (n.4946-4A>C)
c.1180-4902A>C
c.6311-4A>C (n.6311-4A>C)
c.4961-4A>C (n.4961-4A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.207611675A=CA2483456521CR1c.6296-2A= (n.6296-2A=)
c.4946-2A= (n.4946-2A=)
c.1180-4900A=
c.6311-2A= (n.6311-2A=)
c.4961-2A= (n.4961-2A=)
1g.207611675A>CCA344544912CR1c.6296-2A>C (n.6296-2A>C)
c.4946-2A>C (n.4946-2A>C)
c.1180-4900A>C
c.6311-2A>C (n.6311-2A>C)
c.4961-2A>C (n.4961-2A>C)
1g.207611675A>GCA344544913CR1c.6296-2A>G (n.6296-2A>G)
c.4946-2A>G (n.4946-2A>G)
c.1180-4900A>G
c.6311-2A>G (n.6311-2A>G)
c.4961-2A>G (n.4961-2A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.207611675A>TCA344544914CR1c.6296-2A>T (n.6296-2A>T)
c.4946-2A>T (n.4946-2A>T)
c.1180-4900A>T
c.6311-2A>T (n.6311-2A>T)
c.4961-2A>T (n.4961-2A>T)
1g.207611676G>ACA1370413CR1c.6296-1G>A (n.6296-1G>A)
c.4946-1G>A (n.4946-1G>A)
c.1180-4899G>A
c.6311-1G>A (n.6311-1G>A)
c.4961-1G>A (n.4961-1G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.207611676G>CCA344544915CR1c.6296-1G>C (n.6296-1G>C)
c.4946-1G>C (n.4946-1G>C)
c.1180-4899G>C
c.6311-1G>C (n.6311-1G>C)
c.4961-1G>C (n.4961-1G>C)
1g.207611676G=CA1144208193CR1c.6296-1G= (n.6296-1G=)
c.4946-1G= (n.4946-1G=)
c.1180-4899G=
c.6311-1G= (n.6311-1G=)
c.4961-1G= (n.4961-1G=)
1g.207611676G>TCA344544916CR1c.6296-1G>T (n.6296-1G>T)
c.4946-1G>T (n.4946-1G>T)
c.1180-4899G>T
c.6311-1G>T (n.6311-1G>T)
c.4961-1G>T (n.4961-1G>T)
1g.207611677T>ACA344544917CR1c.6296T>A (p.Val2099Glu)
c.4946T>A (p.Val1649Glu)
c.1180-4898T>A
c.6311T>A (p.Val2104Glu)
c.4961T>A (p.Val1654Glu)
1g.207611677T>CCA1370414CR1c.6296T>C (p.Val2099Ala)
c.4946T>C (p.Val1649Ala)
c.1180-4898T>C
c.6311T>C (p.Val2104Ala)
c.4961T>C (p.Val1654Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.207611677T>GCA344544918CR1c.6296T>G (p.Val2099Gly)
c.4946T>G (p.Val1649Gly)
c.1180-4898T>G
c.6311T>G (p.Val2104Gly)
c.4961T>G (p.Val1654Gly)
1g.207611677T=CA1145301360CR1c.6296T= (p.Val2099=)
c.4946T= (p.Val1649=)
c.1180-4898T=
c.6311T= (p.Val2104=)
c.4961T= (p.Val1654=)
1g.207611678G>ACA422972654CR1c.6297G>A (p.Val2099=)
c.4947G>A (p.Val1649=)
c.1180-4897G>A
c.6312G>A (p.Val2104=)
c.4962G>A (p.Val1654=)
 dbSNP gnomAD v2 gnomAD v4
1g.207611678G>CCA36655187CR1c.6297G>C (p.Val2099=)
c.4947G>C (p.Val1649=)
c.1180-4897G>C
c.6312G>C (p.Val2104=)
c.4962G>C (p.Val1654=)
 dbSNP
1g.207611678G=CA2483456522CR1c.6297G= (p.Val2099=)
c.4947G= (p.Val1649=)
c.1180-4897G=
c.6312G= (p.Val2104=)
c.4962G= (p.Val1654=)
1g.207611678G>TCA422972657CR1c.6297G>T (p.Val2099=)
c.4947G>T (p.Val1649=)
c.1180-4897G>T
c.6312G>T (p.Val2104=)
c.4962G>T (p.Val1654=)
1g.207611679T>ACA344544919CR1c.6298T>A (p.Cys2100Ser)
c.4948T>A (p.Cys1650Ser)
c.1180-4896T>A
c.6313T>A (p.Cys2105Ser)
c.4963T>A (p.Cys1655Ser)
1g.207611679T>CCA344544920CR1c.6298T>C (p.Cys2100Arg)
c.4948T>C (p.Cys1650Arg)
c.1180-4896T>C
c.6313T>C (p.Cys2105Arg)
c.4963T>C (p.Cys1655Arg)
1g.207611679T>GCA344544921CR1c.6298T>G (p.Cys2100Gly)
c.4948T>G (p.Cys1650Gly)
c.1180-4896T>G
c.6313T>G (p.Cys2105Gly)
c.4963T>G (p.Cys1655Gly)
1g.207611680G>ACA1370415CR1c.6299G>A (p.Cys2100Tyr)
c.4949G>A (p.Cys1650Tyr)
c.1180-4895G>A
c.6314G>A (p.Cys2105Tyr)
c.4964G>A (p.Cys1655Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.207611680G>CCA344544923CR1c.6299G>C (p.Cys2100Ser)
c.4949G>C (p.Cys1650Ser)
c.1180-4895G>C
c.6314G>C (p.Cys2105Ser)
c.4964G>C (p.Cys1655Ser)
1g.207611680G=CA2483456523CR1c.6299G= (p.Cys2100=)
c.4949G= (p.Cys1650=)
c.1180-4895G=
c.6314G= (p.Cys2105=)
c.4964G= (p.Cys1655=)
1g.207611680G>TCA344544922CR1c.6299G>T (p.Cys2100Phe)
c.4949G>T (p.Cys1650Phe)
c.1180-4895G>T
c.6314G>T (p.Cys2105Phe)
c.4964G>T (p.Cys1655Phe)
 gnomAD v4
1g.207611681T>ACA344544924CR1c.6300T>A (p.Cys2100Ter)
c.4950T>A (p.Cys1650Ter)
c.1180-4894T>A
c.6315T>A (p.Cys2105Ter)
c.4965T>A (p.Cys1655Ter)
1g.207611681T>CCA422972664CR1c.6300T>C (p.Cys2100=)
c.4950T>C (p.Cys1650=)
c.1180-4894T>C
c.6315T>C (p.Cys2105=)
c.4965T>C (p.Cys1655=)
 gnomAD v4
1g.207611681T>GCA344544925CR1c.6300T>G (p.Cys2100Trp)
c.4950T>G (p.Cys1650Trp)
c.1180-4894T>G
c.6315T>G (p.Cys2105Trp)
c.4965T>G (p.Cys1655Trp)
1g.207611682C>ACA344544926CR1c.6301C>A (p.Gln2101Lys)
c.4951C>A (p.Gln1651Lys)
c.1180-4893C>A
c.6316C>A (p.Gln2106Lys)
c.4966C>A (p.Gln1656Lys)
1g.207611682C>GCA344544927CR1c.6301C>G (p.Gln2101Glu)
c.4951C>G (p.Gln1651Glu)
c.1180-4893C>G
c.6316C>G (p.Gln2106Glu)
c.4966C>G (p.Gln1656Glu)
1g.207611682C>TCA344544928CR1c.6301C>T (p.Gln2101Ter)
c.4951C>T (p.Gln1651Ter)
c.1180-4893C>T
c.6316C>T (p.Gln2106Ter)
c.4966C>T (p.Gln1656Ter)
 dbSNP
1g.207611683A>CCA344544929CR1c.6302A>C (p.Gln2101Pro)
c.4952A>C (p.Gln1651Pro)
c.1180-4892A>C
c.6317A>C (p.Gln2106Pro)
c.4967A>C (p.Gln1656Pro)
1g.207611683A>GCA344544930CR1c.6302A>G (p.Gln2101Arg)
c.4952A>G (p.Gln1651Arg)
c.1180-4892A>G
c.6317A>G (p.Gln2106Arg)
c.4967A>G (p.Gln1656Arg)
1g.207611683A>TCA344544931CR1c.6302A>T (p.Gln2101Leu)
c.4952A>T (p.Gln1651Leu)
c.1180-4892A>T
c.6317A>T (p.Gln2106Leu)
c.4967A>T (p.Gln1656Leu)
1g.207611684G>ACA422972672CR1c.6303G>A (p.Gln2101=)
c.4953G>A (p.Gln1651=)
c.1180-4891G>A
c.6318G>A (p.Gln2106=)
c.4968G>A (p.Gln1656=)
 dbSNP
1g.207611684G>CCA344544932CR1c.6303G>C (p.Gln2101His)
c.4953G>C (p.Gln1651His)
c.1180-4891G>C
c.6318G>C (p.Gln2106His)
c.4968G>C (p.Gln1656His)
1g.207611684G=CA2483456524CR1c.6303G= (p.Gln2101=)
c.4953G= (p.Gln1651=)
c.1180-4891G=
c.6318G= (p.Gln2106=)
c.4968G= (p.Gln1656=)
1g.207611684G>TCA344544933CR1c.6303G>T (p.Gln2101His)
c.4953G>T (p.Gln1651His)
c.1180-4891G>T
c.6318G>T (p.Gln2106His)
c.4968G>T (p.Gln1656His)
1g.207611685C>ACA344544934CR1c.6304C>A (p.Pro2102Thr)
c.4954C>A (p.Pro1652Thr)
c.1180-4890C>A
c.6319C>A (p.Pro2107Thr)
c.4969C>A (p.Pro1657Thr)
1g.207611685C>GCA344544935CR1c.6304C>G (p.Pro2102Ala)
c.4954C>G (p.Pro1652Ala)
c.1180-4890C>G
c.6319C>G (p.Pro2107Ala)
c.4969C>G (p.Pro1657Ala)
1g.207611685C>TCA344544936CR1c.6304C>T (p.Pro2102Ser)
c.4954C>T (p.Pro1652Ser)
c.1180-4890C>T
c.6319C>T (p.Pro2107Ser)
c.4969C>T (p.Pro1657Ser)
 gnomAD v4
1g.207611686C>ACA344544937CR1c.6305C>A (p.Pro2102Gln)
c.4955C>A (p.Pro1652Gln)
c.1180-4889C>A
c.6320C>A (p.Pro2107Gln)
c.4970C>A (p.Pro1657Gln)
1g.207611686C=CA1146808341CR1c.6305C= (p.Pro2102=)
c.4955C= (p.Pro1652=)
c.1180-4889C=
c.6320C= (p.Pro2107=)
c.4970C= (p.Pro1657=)
1g.207611686C>GCA344544938CR1c.6305C>G (p.Pro2102Arg)
c.4955C>G (p.Pro1652Arg)
c.1180-4889C>G
c.6320C>G (p.Pro2107Arg)
c.4970C>G (p.Pro1657Arg)
1g.207611686C>TCA1370416CR1c.6305C>T (p.Pro2102Leu)
c.4955C>T (p.Pro1652Leu)
c.1180-4889C>T
c.6320C>T (p.Pro2107Leu)
c.4970C>T (p.Pro1657Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.207611687G>ACA1370417CR1c.6306G>A (p.Pro2102=)
c.4956G>A (p.Pro1652=)
c.1180-4888G>A
c.6321G>A (p.Pro2107=)
c.4971G>A (p.Pro1657=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.207611687G>CCA422972677CR1c.6306G>C (p.Pro2102=)
c.4956G>C (p.Pro1652=)
c.1180-4888G>C
c.6321G>C (p.Pro2107=)
c.4971G>C (p.Pro1657=)
1g.207611687G=CA2483456525CR1c.6306G= (p.Pro2102=)
c.4956G= (p.Pro1652=)
c.1180-4888G=
c.6321G= (p.Pro2107=)
c.4971G= (p.Pro1657=)
1g.207611687G>TCA422972679CR1c.6306G>T (p.Pro2102=)
c.4956G>T (p.Pro1652=)
c.1180-4888G>T
c.6321G>T (p.Pro2107=)
c.4971G>T (p.Pro1657=)
 dbSNP gnomAD v3 gnomAD v4
1g.207611688C>ACA344544939CR1c.6307C>A (p.Pro2103Thr)
c.4957C>A (p.Pro1653Thr)
c.1180-4887C>A
c.6322C>A (p.Pro2108Thr)
c.4972C>A (p.Pro1658Thr)
1g.207611688C>GCA344544941CR1c.6307C>G (p.Pro2103Ala)
c.4957C>G (p.Pro1653Ala)
c.1180-4887C>G
c.6322C>G (p.Pro2108Ala)
c.4972C>G (p.Pro1658Ala)
1g.207611688C>TCA344544940CR1c.6307C>T (p.Pro2103Ser)
c.4957C>T (p.Pro1653Ser)
c.1180-4887C>T
c.6322C>T (p.Pro2108Ser)
c.4972C>T (p.Pro1658Ser)
1g.207611689C>ACA344544942CR1c.6308C>A (p.Pro2103His)
c.4958C>A (p.Pro1653His)
c.1180-4886C>A
c.6323C>A (p.Pro2108His)
c.4973C>A (p.Pro1658His)
 COSMIC COSMIC
1g.207611689C>GCA344544943CR1c.6308C>G (p.Pro2103Arg)
c.4958C>G (p.Pro1653Arg)
c.1180-4886C>G
c.6323C>G (p.Pro2108Arg)
c.4973C>G (p.Pro1658Arg)
1g.207611689C>TCA344544944CR1c.6308C>T (p.Pro2103Leu)
c.4958C>T (p.Pro1653Leu)
c.1180-4886C>T
c.6323C>T (p.Pro2108Leu)
c.4973C>T (p.Pro1658Leu)
1g.207611690T>ACA422972688CR1c.6309T>A (p.Pro2103=)
c.4959T>A (p.Pro1653=)
c.1180-4885T>A
c.6324T>A (p.Pro2108=)
c.4974T>A (p.Pro1658=)
1g.207611690T>CCA422972689CR1c.6309T>C (p.Pro2103=)
c.4959T>C (p.Pro1653=)
c.1180-4885T>C
c.6324T>C (p.Pro2108=)
c.4974T>C (p.Pro1658=)
1g.207611690T>GCA422972691CR1c.6309T>G (p.Pro2103=)
c.4959T>G (p.Pro1653=)
c.1180-4885T>G
c.6324T>G (p.Pro2108=)
c.4974T>G (p.Pro1658=)
1g.207611691C>ACA344544945CR1c.6310C>A (p.Pro2104Thr)
c.4960C>A (p.Pro1654Thr)
c.1180-4884C>A
c.6325C>A (p.Pro2109Thr)
c.4975C>A (p.Pro1659Thr)
1g.207611691C=CA1148411481CR1c.6310C= (p.Pro2104=)
c.4960C= (p.Pro1654=)
c.1180-4884C=
c.6325C= (p.Pro2109=)
c.4975C= (p.Pro1659=)
1g.207611691C>GCA344544946CR1c.6310C>G (p.Pro2104Ala)
c.4960C>G (p.Pro1654Ala)
c.1180-4884C>G
c.6325C>G (p.Pro2109Ala)
c.4975C>G (p.Pro1659Ala)
1g.207611691C>TCA1370418CR1c.6310C>T (p.Pro2104Ser)
c.4960C>T (p.Pro1654Ser)
c.1180-4884C>T
c.6325C>T (p.Pro2109Ser)
c.4975C>T (p.Pro1659Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.207611692C>ACA344544947CR1c.6311C>A (p.Pro2104Gln)
c.4961C>A (p.Pro1654Gln)
c.1180-4883C>A
c.6326C>A (p.Pro2109Gln)
c.4976C>A (p.Pro1659Gln)
1g.207611692C>GCA344544948CR1c.6311C>G (p.Pro2104Arg)
c.4961C>G (p.Pro1654Arg)
c.1180-4883C>G
c.6326C>G (p.Pro2109Arg)
c.4976C>G (p.Pro1659Arg)
1g.207611692C>TCA344544949CR1c.6311C>T (p.Pro2104Leu)
c.4961C>T (p.Pro1654Leu)
c.1180-4883C>T
c.6326C>T (p.Pro2109Leu)
c.4976C>T (p.Pro1659Leu)
1g.207611693A>CCA422972699CR1c.6312A>C (p.Pro2104=)
c.4962A>C (p.Pro1654=)
c.1180-4882A>C
c.6327A>C (p.Pro2109=)
c.4977A>C (p.Pro1659=)
1g.207611693A>GCA422972701CR1c.6312A>G (p.Pro2104=)
c.4962A>G (p.Pro1654=)
c.1180-4882A>G
c.6327A>G (p.Pro2109=)
c.4977A>G (p.Pro1659=)
1g.207611693A>TCA422972703CR1c.6312A>T (p.Pro2104=)
c.4962A>T (p.Pro1654=)
c.1180-4882A>T
c.6327A>T (p.Pro2109=)
c.4977A>T (p.Pro1659=)
1g.207611694delCA645524141CR1c.6313del (p.Glu2105LysfsTer9)
c.4963del (p.Glu1655LysfsTer9)
c.1180-4881del
c.6328del (p.Glu2110LysfsTer9)
c.4978del (p.Glu1660LysfsTer9)
 COSMIC COSMIC
1g.207611694G>ACA344544950CR1c.6313G>A (p.Glu2105Lys)
c.4963G>A (p.Glu1655Lys)
c.1180-4881G>A
c.6328G>A (p.Glu2110Lys)
c.4978G>A (p.Glu1660Lys)
 gnomAD v4
1g.207611694G>CCA344544951CR1c.6313G>C (p.Glu2105Gln)
c.4963G>C (p.Glu1655Gln)
c.1180-4881G>C
c.6328G>C (p.Glu2110Gln)
c.4978G>C (p.Glu1660Gln)
1g.207611694G>TCA344544952CR1c.6313G>T (p.Glu2105Ter)
c.4963G>T (p.Glu1655Ter)
c.1180-4881G>T
c.6328G>T (p.Glu2110Ter)
c.4978G>T (p.Glu1660Ter)
1g.207611695A=CA2483456526CR1c.6314A= (p.Glu2105=)
c.4964A= (p.Glu1655=)
c.1180-4880A=
c.6329A= (p.Glu2110=)
c.4979A= (p.Glu1660=)
1g.207611695A>CCA344544955CR1c.6314A>C (p.Glu2105Ala)
c.4964A>C (p.Glu1655Ala)
c.1180-4880A>C
c.6329A>C (p.Glu2110Ala)
c.4979A>C (p.Glu1660Ala)
1g.207611695A>GCA344544953CR1c.6314A>G (p.Glu2105Gly)
c.4964A>G (p.Glu1655Gly)
c.1180-4880A>G
c.6329A>G (p.Glu2110Gly)
c.4979A>G (p.Glu1660Gly)
 dbSNP
1g.207611695A>TCA344544954CR1c.6314A>T (p.Glu2105Val)
c.4964A>T (p.Glu1655Val)
c.1180-4880A>T
c.6329A>T (p.Glu2110Val)
c.4979A>T (p.Glu1660Val)
 gnomAD v4
1g.207611696A=CA2483456527CR1c.6315A= (p.Glu2105=)
c.4965A= (p.Glu1655=)
c.1180-4879A=
c.6330A= (p.Glu2110=)
c.4980A= (p.Glu1660=)
1g.207611696A>CCA344544956CR1c.6315A>C (p.Glu2105Asp)
c.4965A>C (p.Glu1655Asp)
c.1180-4879A>C
c.6330A>C (p.Glu2110Asp)
c.4980A>C (p.Glu1660Asp)
1g.207611696A>GCA422972716CR1c.6315A>G (p.Glu2105=)
c.4965A>G (p.Glu1655=)
c.1180-4879A>G
c.6330A>G (p.Glu2110=)
c.4980A>G (p.Glu1660=)
1g.207611696A>TCA344544957CR1c.6315A>T (p.Glu2105Asp)
c.4965A>T (p.Glu1655Asp)
c.1180-4879A>T
c.6330A>T (p.Glu2110Asp)
c.4980A>T (p.Glu1660Asp)
 dbSNP gnomAD v3 gnomAD v4
1g.207611697A>CCA344544958CR1c.6316A>C (p.Ile2106Leu)
c.4966A>C (p.Ile1656Leu)
c.1180-4878A>C
c.6331A>C (p.Ile2111Leu)
c.4981A>C (p.Ile1661Leu)
1g.207611697A>GCA344544959CR1c.6316A>G (p.Ile2106Val)
c.4966A>G (p.Ile1656Val)
c.1180-4878A>G
c.6331A>G (p.Ile2111Val)
c.4981A>G (p.Ile1661Val)
1g.207611697A>TCA344544960CR1c.6316A>T (p.Ile2106Phe)
c.4966A>T (p.Ile1656Phe)
c.1180-4878A>T
c.6331A>T (p.Ile2111Phe)
c.4981A>T (p.Ile1661Phe)
1g.207611698T>ACA344544961CR1c.6317T>A (p.Ile2106Asn)
c.4967T>A (p.Ile1656Asn)
c.1180-4877T>A
c.6332T>A (p.Ile2111Asn)
c.4982T>A (p.Ile1661Asn)
1g.207611698T>CCA344544962CR1c.6317T>C (p.Ile2106Thr)
c.4967T>C (p.Ile1656Thr)
c.1180-4877T>C
c.6332T>C (p.Ile2111Thr)
c.4982T>C (p.Ile1661Thr)
1g.207611698T>GCA344544963CR1c.6317T>G (p.Ile2106Ser)
c.4967T>G (p.Ile1656Ser)
c.1180-4877T>G
c.6332T>G (p.Ile2111Ser)
c.4982T>G (p.Ile1661Ser)
1g.207611699C>ACA422972723CR1c.6318C>A (p.Ile2106=)
c.4968C>A (p.Ile1656=)
c.1180-4876C>A
c.6333C>A (p.Ile2111=)
c.4983C>A (p.Ile1661=)
1g.207611699C>GCA344544964CR1c.6318C>G (p.Ile2106Met)
c.4968C>G (p.Ile1656Met)
c.1180-4876C>G
c.6333C>G (p.Ile2111Met)
c.4983C>G (p.Ile1661Met)
1g.207611699C>TCA422972726CR1c.6318C>T (p.Ile2106=)
c.4968C>T (p.Ile1656=)
c.1180-4876C>T
c.6333C>T (p.Ile2111=)
c.4983C>T (p.Ile1661=)
 COSMIC COSMIC
1g.207611700C>ACA344544965CR1c.6319C>A (p.Leu2107Met)
c.4969C>A (p.Leu1657Met)
c.1180-4875C>A
c.6334C>A (p.Leu2112Met)
c.4984C>A (p.Leu1662Met)
 COSMIC COSMIC
1g.207611700C>GCA344544966CR1c.6319C>G (p.Leu2107Val)
c.4969C>G (p.Leu1657Val)
c.1180-4875C>G
c.6334C>G (p.Leu2112Val)
c.4984C>G (p.Leu1662Val)
1g.207611700C>TCA422972728CR1c.6319C>T (p.Leu2107=)
c.4969C>T (p.Leu1657=)
c.1180-4875C>T
c.6334C>T (p.Leu2112=)
c.4984C>T (p.Leu1662=)
1g.207611701T>ACA344544969CR1c.6320T>A (p.Leu2107Gln)
c.4970T>A (p.Leu1657Gln)
c.1180-4874T>A
c.6335T>A (p.Leu2112Gln)
c.4985T>A (p.Leu1662Gln)
1g.207611701T>CCA344544968CR1c.6320T>C (p.Leu2107Pro)
c.4970T>C (p.Leu1657Pro)
c.1180-4874T>C
c.6335T>C (p.Leu2112Pro)
c.4985T>C (p.Leu1662Pro)
1g.207611701T>GCA344544967CR1c.6320T>G (p.Leu2107Arg)
c.4970T>G (p.Leu1657Arg)
c.1180-4874T>G
c.6335T>G (p.Leu2112Arg)
c.4985T>G (p.Leu1662Arg)
1g.207611702G>ACA422972738CR1c.6321G>A (p.Leu2107=)
c.4971G>A (p.Leu1657=)
c.1180-4873G>A
c.6336G>A (p.Leu2112=)
c.4986G>A (p.Leu1662=)
1g.207611702G>CCA422972737CR1c.6321G>C (p.Leu2107=)
c.4971G>C (p.Leu1657=)
c.1180-4873G>C
c.6336G>C (p.Leu2112=)
c.4986G>C (p.Leu1662=)
1g.207611702G>TCA422972735CR1c.6321G>T (p.Leu2107=)
c.4971G>T (p.Leu1657=)
c.1180-4873G>T
c.6336G>T (p.Leu2112=)
c.4986G>T (p.Leu1662=)
 gnomAD v4
1g.207611703C>ACA344544970CR1c.6322C>A (p.His2108Asn)
c.4972C>A (p.His1658Asn)
c.1180-4872C>A
c.6337C>A (p.His2113Asn)
c.4987C>A (p.His1663Asn)
1g.207611703C=CA2483456528CR1c.6322C= (p.His2108=)
c.4972C= (p.His1658=)
c.1180-4872C=
c.6337C= (p.His2113=)
c.4987C= (p.His1663=)
1g.207611703C>GCA344544971CR1c.6322C>G (p.His2108Asp)
c.4972C>G (p.His1658Asp)
c.1180-4872C>G
c.6337C>G (p.His2113Asp)
c.4987C>G (p.His1663Asp)
1g.207611703C>TCA1370419CR1c.6322C>T (p.His2108Tyr)
c.4972C>T (p.His1658Tyr)
c.1180-4872C>T
c.6337C>T (p.His2113Tyr)
c.4987C>T (p.His1663Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.207611704A=CA2483456529CR1c.6323A= (p.His2108=)
c.4973A= (p.His1658=)
c.1180-4871A=
c.6338A= (p.His2113=)
c.4988A= (p.His1663=)
1g.207611704A>CCA344544972CR1c.6323A>C (p.His2108Pro)
c.4973A>C (p.His1658Pro)
c.1180-4871A>C
c.6338A>C (p.His2113Pro)
c.4988A>C (p.His1663Pro)
 dbSNP gnomAD v3 gnomAD v4
1g.207611704A>GCA344544973CR1c.6323A>G (p.His2108Arg)
c.4973A>G (p.His1658Arg)
c.1180-4871A>G
c.6338A>G (p.His2113Arg)
c.4988A>G (p.His1663Arg)
1g.207611704A>TCA344544974CR1c.6323A>T (p.His2108Leu)
c.4973A>T (p.His1658Leu)
c.1180-4871A>T
c.6338A>T (p.His2113Leu)
c.4988A>T (p.His1663Leu)
1g.207611705T>ACA344544976CR1c.6324T>A (p.His2108Gln)
c.4974T>A (p.His1658Gln)
c.1180-4870T>A
c.6339T>A (p.His2113Gln)
c.4989T>A (p.His1663Gln)
 gnomAD v4
1g.207611705T>CCA422972746CR1c.6324T>C (p.His2108=)
c.4974T>C (p.His1658=)
c.1180-4870T>C
c.6339T>C (p.His2113=)
c.4989T>C (p.His1663=)
1g.207611705T>GCA344544975CR1c.6324T>G (p.His2108Gln)
c.4974T>G (p.His1658Gln)
c.1180-4870T>G
c.6339T>G (p.His2113Gln)
c.4989T>G (p.His1663Gln)
1g.207611706G>ACA1370420CR1c.6325G>A (p.Gly2109Ser)
c.4975G>A (p.Gly1659Ser)
c.1180-4869G>A
c.6340G>A (p.Gly2114Ser)
c.4990G>A (p.Gly1664Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.207611706G>CCA344544977CR1c.6325G>C (p.Gly2109Arg)
c.4975G>C (p.Gly1659Arg)
c.1180-4869G>C
c.6340G>C (p.Gly2114Arg)
c.4990G>C (p.Gly1664Arg)
1g.207611706G=CA1143636124CR1c.6325G= (p.Gly2109=)
c.4975G= (p.Gly1659=)
c.1180-4869G=
c.6340G= (p.Gly2114=)
c.4990G= (p.Gly1664=)
1g.207611706G>TCA344544978CR1c.6325G>T (p.Gly2109Cys)
c.4975G>T (p.Gly1659Cys)
c.1180-4869G>T
c.6340G>T (p.Gly2114Cys)
c.4990G>T (p.Gly1664Cys)
1g.207611707G>ACA344544979CR1c.6326G>A (p.Gly2109Asp)
c.4976G>A (p.Gly1659Asp)
c.1180-4868G>A
c.6341G>A (p.Gly2114Asp)
c.4991G>A (p.Gly1664Asp)
 gnomAD v4
1g.207611707G>CCA344544980CR1c.6326G>C (p.Gly2109Ala)
c.4976G>C (p.Gly1659Ala)
c.1180-4868G>C
c.6341G>C (p.Gly2114Ala)
c.4991G>C (p.Gly1664Ala)
1g.207611707G>TCA344544981CR1c.6326G>T (p.Gly2109Val)
c.4976G>T (p.Gly1659Val)
c.1180-4868G>T
c.6341G>T (p.Gly2114Val)
c.4991G>T (p.Gly1664Val)
 COSMIC COSMIC
1g.207611708T>ACA422972756CR1c.6327T>A (p.Gly2109=)
c.4977T>A (p.Gly1659=)
c.1180-4867T>A
c.6342T>A (p.Gly2114=)
c.4992T>A (p.Gly1664=)
 dbSNP
1g.207611708T>CCA422972753CR1c.6327T>C (p.Gly2109=)
c.4977T>C (p.Gly1659=)
c.1180-4867T>C
c.6342T>C (p.Gly2114=)
c.4992T>C (p.Gly1664=)
1g.207611708T>GCA422972754CR1c.6327T>G (p.Gly2109=)
c.4977T>G (p.Gly1659=)
c.1180-4867T>G
c.6342T>G (p.Gly2114=)
c.4992T>G (p.Gly1664=)
1g.207611708T=CA2483456530CR1c.6327T= (p.Gly2109=)
c.4977T= (p.Gly1659=)
c.1180-4867T=
c.6342T= (p.Gly2114=)
c.4992T= (p.Gly1664=)
1g.207611709G>ACA344544982CR1c.6328G>A (p.Glu2110Lys)
c.4978G>A (p.Glu1660Lys)
c.1180-4866G>A
c.6343G>A (p.Glu2115Lys)
c.4993G>A (p.Glu1665Lys)
1g.207611709G>CCA344544984CR1c.6328G>C (p.Glu2110Gln)
c.4978G>C (p.Glu1660Gln)
c.1180-4866G>C
c.6343G>C (p.Glu2115Gln)
c.4993G>C (p.Glu1665Gln)
1g.207611709G>TCA344544983CR1c.6328G>T (p.Glu2110Ter)
c.4978G>T (p.Glu1660Ter)
c.1180-4866G>T
c.6343G>T (p.Glu2115Ter)
c.4993G>T (p.Glu1665Ter)
1g.207611710A>CCA344544985CR1c.6329A>C (p.Glu2110Ala)
c.4979A>C (p.Glu1660Ala)
c.1180-4865A>C
c.6344A>C (p.Glu2115Ala)
c.4994A>C (p.Glu1665Ala)
1g.207611710A>GCA344544986CR1c.6329A>G (p.Glu2110Gly)
c.4979A>G (p.Glu1660Gly)
c.1180-4865A>G
c.6344A>G (p.Glu2115Gly)
c.4994A>G (p.Glu1665Gly)
1g.207611710A>TCA344544987CR1c.6329A>T (p.Glu2110Val)
c.4979A>T (p.Glu1660Val)
c.1180-4865A>T
c.6344A>T (p.Glu2115Val)
c.4994A>T (p.Glu1665Val)
1g.207611711G>ACA422972764CR1c.6330G>A (p.Glu2110=)
c.4980G>A (p.Glu1660=)
c.1180-4864G>A
c.6345G>A (p.Glu2115=)
c.4995G>A (p.Glu1665=)
1g.207611711G>CCA344544988CR1c.6330G>C (p.Glu2110Asp)
c.4980G>C (p.Glu1660Asp)
c.1180-4864G>C
c.6345G>C (p.Glu2115Asp)
c.4995G>C (p.Glu1665Asp)
1g.207611711G>TCA344544989CR1c.6330G>T (p.Glu2110Asp)
c.4980G>T (p.Glu1660Asp)
c.1180-4864G>T
c.6345G>T (p.Glu2115Asp)
c.4995G>T (p.Glu1665Asp)
1g.207611712C>ACA344544990CR1c.6331C>A (p.His2111Asn)
c.4981C>A (p.His1661Asn)
c.1180-4863C>A
c.6346C>A (p.His2116Asn)
c.4996C>A (p.His1666Asn)
 gnomAD v4
1g.207611712C>GCA344544991CR1c.6331C>G (p.His2111Asp)
c.4981C>G (p.His1661Asp)
c.1180-4863C>G
c.6346C>G (p.His2116Asp)
c.4996C>G (p.His1666Asp)
1g.207611712C>TCA344544992CR1c.6331C>T (p.His2111Tyr)
c.4981C>T (p.His1661Tyr)
c.1180-4863C>T
c.6346C>T (p.His2116Tyr)
c.4996C>T (p.His1666Tyr)
1g.207611713A=CA1149115085CR1c.6332A= (p.His2111=)
c.4982A= (p.His1661=)
c.1180-4862A=
c.6347A= (p.His2116=)
c.4997A= (p.His1666=)
1g.207611713A>CCA344544993CR1c.6332A>C (p.His2111Pro)
c.4982A>C (p.His1661Pro)
c.1180-4862A>C
c.6347A>C (p.His2116Pro)
c.4997A>C (p.His1666Pro)
1g.207611713A>GCA1370421CR1c.6332A>G (p.His2111Arg)
c.4982A>G (p.His1661Arg)
c.1180-4862A>G
c.6347A>G (p.His2116Arg)
c.4997A>G (p.His1666Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.207611713A>TCA344544994CR1c.6332A>T (p.His2111Leu)
c.4982A>T (p.His1661Leu)
c.1180-4862A>T
c.6347A>T (p.His2116Leu)
c.4997A>T (p.His1666Leu)
1g.207611714T>ACA344544996CR1c.6333T>A (p.His2111Gln)
c.4983T>A (p.His1661Gln)
c.1180-4861T>A
c.6348T>A (p.His2116Gln)
c.4998T>A (p.His1666Gln)
1g.207611714T>CCA422972777CR1c.6333T>C (p.His2111=)
c.4983T>C (p.His1661=)
c.1180-4861T>C
c.6348T>C (p.His2116=)
c.4998T>C (p.His1666=)
1g.207611714T>GCA344544995CR1c.6333T>G (p.His2111Gln)
c.4983T>G (p.His1661Gln)
c.1180-4861T>G
c.6348T>G (p.His2116Gln)
c.4998T>G (p.His1666Gln)
1g.207611715A>CCA344544997CR1c.6334A>C (p.Thr2112Pro)
c.4984A>C (p.Thr1662Pro)
c.1180-4860A>C
c.6349A>C (p.Thr2117Pro)
c.4999A>C (p.Thr1667Pro)
1g.207611715A>GCA344544999CR1c.6334A>G (p.Thr2112Ala)
c.4984A>G (p.Thr1662Ala)
c.1180-4860A>G
c.6349A>G (p.Thr2117Ala)
c.4999A>G (p.Thr1667Ala)
1g.207611715A>TCA344544998CR1c.6334A>T (p.Thr2112Ser)
c.4984A>T (p.Thr1662Ser)
c.1180-4860A>T
c.6349A>T (p.Thr2117Ser)
c.4999A>T (p.Thr1667Ser)
1g.207611715_207611716delinsACCA2483456531CR1c.6334_6335delinsAC (p.Thr2112=)
c.4984_4985delinsAC (p.Thr1662=)
c.1180-4860_1180-4859delinsAC
c.6349_6350delinsAC (p.Thr2117=)
c.4999_5000delinsAC (p.Thr1667=)
1g.207611716C>ACA344545000CR1c.6335C>A (p.Thr2112Asn)
c.4985C>A (p.Thr1662Asn)
c.1180-4859C>A
c.6350C>A (p.Thr2117Asn)
c.5000C>A (p.Thr1667Asn)
 gnomAD v4
1g.207611716C=CA2483456532CR1c.6335C= (p.Thr2112=)
c.4985C= (p.Thr1662=)
c.1180-4859C=
c.6350C= (p.Thr2117=)
c.5000C= (p.Thr1667=)
1g.207611716C>GCA344545001CR1c.6335C>G (p.Thr2112Ser)
c.4985C>G (p.Thr1662Ser)
c.1180-4859C>G
c.6350C>G (p.Thr2117Ser)
c.5000C>G (p.Thr1667Ser)
1g.207611716C>TCA344545002CR1c.6335C>T (p.Thr2112Ile)
c.4985C>T (p.Thr1662Ile)
c.1180-4859C>T
c.6350C>T (p.Thr2117Ile)
c.5000C>T (p.Thr1667Ile)
 dbSNP gnomAD v2 gnomAD v4
1g.207611718delCA528999500CR1c.6337del (p.Leu2113Ter)
c.4987del (p.Leu1663Ter)
c.1180-4857del
c.6352del (p.Leu2118Ter)
c.5002del (p.Leu1668Ter)
 dbSNP gnomAD v2 gnomAD v4
1g.207611717C>ACA422972784CR1c.6336C>A (p.Thr2112=)
c.4986C>A (p.Thr1662=)
c.1180-4858C>A
c.6351C>A (p.Thr2117=)
c.5001C>A (p.Thr1667=)
1g.207611717C>GCA422972785CR1c.6336C>G (p.Thr2112=)
c.4986C>G (p.Thr1662=)
c.1180-4858C>G
c.6351C>G (p.Thr2117=)
c.5001C>G (p.Thr1667=)
1g.207611717C>TCA422972787CR1c.6336C>T (p.Thr2112=)
c.4986C>T (p.Thr1662=)
c.1180-4858C>T
c.6351C>T (p.Thr2117=)
c.5001C>T (p.Thr1667=)
1g.207611718C>ACA344545003CR1c.6337C>A (p.Leu2113Ile)
c.4987C>A (p.Leu1663Ile)
c.1180-4857C>A
c.6352C>A (p.Leu2118Ile)
c.5002C>A (p.Leu1668Ile)
1g.207611718C>GCA344545004CR1c.6337C>G (p.Leu2113Val)
c.4987C>G (p.Leu1663Val)
c.1180-4857C>G
c.6352C>G (p.Leu2118Val)
c.5002C>G (p.Leu1668Val)
 gnomAD v4
1g.207611718C>TCA422972790CR1c.6337C>T (p.Leu2113=)
c.4987C>T (p.Leu1663=)
c.1180-4857C>T
c.6352C>T (p.Leu2118=)
c.5002C>T (p.Leu1668=)
 COSMIC COSMIC
1g.207611719T>ACA344545005CR1c.6338T>A (p.Leu2113Gln)
c.4988T>A (p.Leu1663Gln)
c.1180-4856T>A
c.6353T>A (p.Leu2118Gln)
c.5003T>A (p.Leu1668Gln)
 gnomAD v4
1g.207611719T>CCA344545006CR1c.6338T>C (p.Leu2113Pro)
c.4988T>C (p.Leu1663Pro)
c.1180-4856T>C
c.6353T>C (p.Leu2118Pro)
c.5003T>C (p.Leu1668Pro)
 dbSNP gnomAD v2 gnomAD v4
1g.207611719T>GCA344545007CR1c.6338T>G (p.Leu2113Arg)
c.4988T>G (p.Leu1663Arg)
c.1180-4856T>G
c.6353T>G (p.Leu2118Arg)
c.5003T>G (p.Leu1668Arg)
1g.207611719T=CA2483456533CR1c.6338T= (p.Leu2113=)
c.4988T= (p.Leu1663=)
c.1180-4856T=
c.6353T= (p.Leu2118=)
c.5003T= (p.Leu1668=)
1g.207611720A>CCA422972795CR1c.6339A>C (p.Leu2113=)
c.4989A>C (p.Leu1663=)
c.1180-4855A>C
c.6354A>C (p.Leu2118=)
c.5004A>C (p.Leu1668=)
1g.207611720A>GCA422972797CR1c.6339A>G (p.Leu2113=)
c.4989A>G (p.Leu1663=)
c.1180-4855A>G
c.6354A>G (p.Leu2118=)
c.5004A>G (p.Leu1668=)
1g.207611720A>TCA422972798CR1c.6339A>T (p.Leu2113=)
c.4989A>T (p.Leu1663=)
c.1180-4855A>T
c.6354A>T (p.Leu2118=)
c.5004A>T (p.Leu1668=)
1g.207611721A>CCA344545008CR1c.6340A>C (p.Ser2114Arg)
c.4990A>C (p.Ser1664Arg)
c.1180-4854A>C
c.6355A>C (p.Ser2119Arg)
c.5005A>C (p.Ser1669Arg)
1g.207611721A>GCA344545009CR1c.6340A>G (p.Ser2114Gly)
c.4990A>G (p.Ser1664Gly)
c.1180-4854A>G
c.6355A>G (p.Ser2119Gly)
c.5005A>G (p.Ser1669Gly)
1g.207611721A>TCA344545010CR1c.6340A>T (p.Ser2114Cys)
c.4990A>T (p.Ser1664Cys)
c.1180-4854A>T
c.6355A>T (p.Ser2119Cys)
c.5005A>T (p.Ser1669Cys)
1g.207611722G>ACA344545011CR1c.6341G>A (p.Ser2114Asn)
c.4991G>A (p.Ser1664Asn)
c.1180-4853G>A
c.6356G>A (p.Ser2119Asn)
c.5006G>A (p.Ser1669Asn)
1g.207611722G>CCA344545012CR1c.6341G>C (p.Ser2114Thr)
c.4991G>C (p.Ser1664Thr)
c.1180-4853G>C
c.6356G>C (p.Ser2119Thr)
c.5006G>C (p.Ser1669Thr)
1g.207611722G>TCA344545013CR1c.6341G>T (p.Ser2114Ile)
c.4991G>T (p.Ser1664Ile)
c.1180-4853G>T
c.6356G>T (p.Ser2119Ile)
c.5006G>T (p.Ser1669Ile)
1g.207611723C>ACA344545014CR1c.6342C>A (p.Ser2114Arg)
c.4992C>A (p.Ser1664Arg)
c.1180-4852C>A
c.6357C>A (p.Ser2119Arg)
c.5007C>A (p.Ser1669Arg)
1g.207611723C>GCA344545015CR1c.6342C>G (p.Ser2114Arg)
c.4992C>G (p.Ser1664Arg)
c.1180-4852C>G
c.6357C>G (p.Ser2119Arg)
c.5007C>G (p.Ser1669Arg)
1g.207611723C>TCA422972808CR1c.6342C>T (p.Ser2114=)
c.4992C>T (p.Ser1664=)
c.1180-4852C>T
c.6357C>T (p.Ser2119=)
c.5007C>T (p.Ser1669=)
1g.207611724C>ACA344545016CR1c.6343C>A (p.His2115Asn)
c.4993C>A (p.His1665Asn)
c.1180-4851C>A
c.6358C>A (p.His2120Asn)
c.5008C>A (p.His1670Asn)
1g.207611724C>GCA344545017CR1c.6343C>G (p.His2115Asp)
c.4993C>G (p.His1665Asp)
c.1180-4851C>G
c.6358C>G (p.His2120Asp)
c.5008C>G (p.His1670Asp)
1g.207611724C>TCA344545018CR1c.6343C>T (p.His2115Tyr)
c.4993C>T (p.His1665Tyr)
c.1180-4851C>T
c.6358C>T (p.His2120Tyr)
c.5008C>T (p.His1670Tyr)
 gnomAD v3 gnomAD v4
1g.207611725A>CCA344545019CR1c.6344A>C (p.His2115Pro)
c.4994A>C (p.His1665Pro)
c.1180-4850A>C
c.6359A>C (p.His2120Pro)
c.5009A>C (p.His1670Pro)
1g.207611725A>GCA344545020CR1c.6344A>G (p.His2115Arg)
c.4994A>G (p.His1665Arg)
c.1180-4850A>G
c.6359A>G (p.His2120Arg)
c.5009A>G (p.His1670Arg)
1g.207611725A>TCA344545021CR1c.6344A>T (p.His2115Leu)
c.4994A>T (p.His1665Leu)
c.1180-4850A>T
c.6359A>T (p.His2120Leu)
c.5009A>T (p.His1670Leu)
1g.207611726T>ACA344545022CR1c.6345T>A (p.His2115Gln)
c.4995T>A (p.His1665Gln)
c.1180-4849T>A
c.6360T>A (p.His2120Gln)
c.5010T>A (p.His1670Gln)
1g.207611726T>CCA422972817CR1c.6345T>C (p.His2115=)
c.4995T>C (p.His1665=)
c.1180-4849T>C
c.6360T>C (p.His2120=)
c.5010T>C (p.His1670=)
 dbSNP gnomAD v2 gnomAD v4
1g.207611726T>GCA344545023CR1c.6345T>G (p.His2115Gln)
c.4995T>G (p.His1665Gln)
c.1180-4849T>G
c.6360T>G (p.His2120Gln)
c.5010T>G (p.His1670Gln)
1g.207611726T=CA2483456534CR1c.6345T= (p.His2115=)
c.4995T= (p.His1665=)
c.1180-4849T=
c.6360T= (p.His2120=)
c.5010T= (p.His1670=)
1g.207611727C>ACA344545024CR1c.6346C>A (p.Gln2116Lys)
c.4996C>A (p.Gln1666Lys)
c.1180-4848C>A
c.6361C>A (p.Gln2121Lys)
c.5011C>A (p.Gln1671Lys)
1g.207611727C=CA2483456535CR1c.6346C= (p.Gln2116=)
c.4996C= (p.Gln1666=)
c.1180-4848C=
c.6361C= (p.Gln2121=)
c.5011C= (p.Gln1671=)
1g.207611727C>GCA36655196CR1c.6346C>G (p.Gln2116Glu)
c.4996C>G (p.Gln1666Glu)
c.1180-4848C>G
c.6361C>G (p.Gln2121Glu)
c.5011C>G (p.Gln1671Glu)
 dbSNP
1g.207611727C>TCA36655198CR1c.6346C>T (p.Gln2116Ter)
c.4996C>T (p.Gln1666Ter)
c.1180-4848C>T
c.6361C>T (p.Gln2121Ter)
c.5011C>T (p.Gln1671Ter)
 dbSNP gnomAD v3 gnomAD v4
1g.207611728A>CCA344545027CR1c.6347A>C (p.Gln2116Pro)
c.4997A>C (p.Gln1666Pro)
c.1180-4847A>C
c.6362A>C (p.Gln2121Pro)
c.5012A>C (p.Gln1671Pro)
1g.207611728A>GCA344545026CR1c.6347A>G (p.Gln2116Arg)
c.4997A>G (p.Gln1666Arg)
c.1180-4847A>G
c.6362A>G (p.Gln2121Arg)
c.5012A>G (p.Gln1671Arg)
 gnomAD v4
1g.207611728A>TCA344545025CR1c.6347A>T (p.Gln2116Leu)
c.4997A>T (p.Gln1666Leu)
c.1180-4847A>T
c.6362A>T (p.Gln2121Leu)
c.5012A>T (p.Gln1671Leu)
1g.207611729G>ACA1370422CR1c.6348G>A (p.Gln2116=)
c.4998G>A (p.Gln1666=)
c.1180-4846G>A
c.6363G>A (p.Gln2121=)
c.5013G>A (p.Gln1671=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.207611729G>CCA344545028CR1c.6348G>C (p.Gln2116His)
c.4998G>C (p.Gln1666His)
c.1180-4846G>C
c.6363G>C (p.Gln2121His)
c.5013G>C (p.Gln1671His)
1g.207611729G=CA2483456536CR1c.6348G= (p.Gln2116=)
c.4998G= (p.Gln1666=)
c.1180-4846G=
c.6363G= (p.Gln2121=)
c.5013G= (p.Gln1671=)
1g.207611729G>TCA344545029CR1c.6348G>T (p.Gln2116His)
c.4998G>T (p.Gln1666His)
c.1180-4846G>T
c.6363G>T (p.Gln2121His)
c.5013G>T (p.Gln1671His)
1g.207611730G>ACA344545030CR1c.6349G>A (p.Asp2117Asn)
c.4999G>A (p.Asp1667Asn)
c.1180-4845G>A
c.6364G>A (p.Asp2122Asn)
c.5014G>A (p.Asp1672Asn)
 gnomAD v4
1g.207611730G>CCA344545031CR1c.6349G>C (p.Asp2117His)
c.4999G>C (p.Asp1667His)
c.1180-4845G>C
c.6364G>C (p.Asp2122His)
c.5014G>C (p.Asp1672His)
1g.207611730G>TCA344545032CR1c.6349G>T (p.Asp2117Tyr)
c.4999G>T (p.Asp1667Tyr)
c.1180-4845G>T
c.6364G>T (p.Asp2122Tyr)
c.5014G>T (p.Asp1672Tyr)
1g.207611731A>CCA344545035CR1c.6350A>C (p.Asp2117Ala)
c.5000A>C (p.Asp1667Ala)
c.1180-4844A>C
c.6365A>C (p.Asp2122Ala)
c.5015A>C (p.Asp1672Ala)
1g.207611731A>GCA344545034CR1c.6350A>G (p.Asp2117Gly)
c.5000A>G (p.Asp1667Gly)
c.1180-4844A>G
c.6365A>G (p.Asp2122Gly)
c.5015A>G (p.Asp1672Gly)
 gnomAD v4
1g.207611731A>TCA344545033CR1c.6350A>T (p.Asp2117Val)
c.5000A>T (p.Asp1667Val)
c.1180-4844A>T
c.6365A>T (p.Asp2122Val)
c.5015A>T (p.Asp1672Val)
1g.207611733_207611735delCA2650269920CR1c.6352_6354del (p.Asn2118del)
c.5002_5004del (p.Asn1668del)
c.1180-4842_1180-4840del
c.6367_6369del (p.Asn2123del)
c.5017_5019del (p.Asn1673del)
 gnomAD v4
1g.207611732C>ACA344545036CR1c.6351C>A (p.Asp2117Glu)
c.5001C>A (p.Asp1667Glu)
c.1180-4843C>A
c.6366C>A (p.Asp2122Glu)
c.5016C>A (p.Asp1672Glu)
1g.207611732C=CA1147040781CR1c.6351C= (p.Asp2117=)
c.5001C= (p.Asp1667=)
c.1180-4843C=
c.6366C= (p.Asp2122=)
c.5016C= (p.Asp1672=)
1g.207611732C>GCA344545037CR1c.6351C>G (p.Asp2117Glu)
c.5001C>G (p.Asp1667Glu)
c.1180-4843C>G
c.6366C>G (p.Asp2122Glu)
c.5016C>G (p.Asp1672Glu)
1g.207611732C>TCA1370423CR1c.6351C>T (p.Asp2117=)
c.5001C>T (p.Asp1667=)
c.1180-4843C>T
c.6366C>T (p.Asp2122=)
c.5016C>T (p.Asp1672=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.207611733A>CCA344545038CR1c.6352A>C (p.Asn2118His)
c.5002A>C (p.Asn1668His)
c.1180-4842A>C
c.6367A>C (p.Asn2123His)
c.5017A>C (p.Asn1673His)
1g.207611733A>GCA344545039CR1c.6352A>G (p.Asn2118Asp)
c.5002A>G (p.Asn1668Asp)
c.1180-4842A>G
c.6367A>G (p.Asn2123Asp)
c.5017A>G (p.Asn1673Asp)
1g.207611733A>TCA344545040CR1c.6352A>T (p.Asn2118Tyr)
c.5002A>T (p.Asn1668Tyr)
c.1180-4842A>T
c.6367A>T (p.Asn2123Tyr)
c.5017A>T (p.Asn1673Tyr)
1g.207611734A>CCA344545041CR1c.6353A>C (p.Asn2118Thr)
c.5003A>C (p.Asn1668Thr)
c.1180-4841A>C
c.6368A>C (p.Asn2123Thr)
c.5018A>C (p.Asn1673Thr)
1g.207611734A>GCA344545043CR1c.6353A>G (p.Asn2118Ser)
c.5003A>G (p.Asn1668Ser)
c.1180-4841A>G
c.6368A>G (p.Asn2123Ser)
c.5018A>G (p.Asn1673Ser)
1g.207611734A>TCA344545042CR1c.6353A>T (p.Asn2118Ile)
c.5003A>T (p.Asn1668Ile)
c.1180-4841A>T
c.6368A>T (p.Asn2123Ile)
c.5018A>T (p.Asn1673Ile)
1g.207611735delCA2650269921CR1c.6354del (p.Ser2120HisfsTer?)
c.5004del (p.Ser1670HisfsTer?)
c.1180-4840del
c.6369del (p.Ser2125HisfsTer?)
c.5019del (p.Ser1675HisfsTer?)
 gnomAD v4
1g.207611735C>ACA1370424CR1c.6354C>A (p.Asn2118Lys)
c.5004C>A (p.Asn1668Lys)
c.1180-4840C>A
c.6369C>A (p.Asn2123Lys)
c.5019C>A (p.Asn1673Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.207611735C=CA1149040170CR1c.6354C= (p.Asn2118=)
c.5004C= (p.Asn1668=)
c.1180-4840C=
c.6369C= (p.Asn2123=)
c.5019C= (p.Asn1673=)
1g.207611735C>GCA344545044CR1c.6354C>G (p.Asn2118Lys)
c.5004C>G (p.Asn1668Lys)
c.1180-4840C>G
c.6369C>G (p.Asn2123Lys)
c.5019C>G (p.Asn1673Lys)
1g.207611735C>TCA422972842CR1c.6354C>T (p.Asn2118=)
c.5004C>T (p.Asn1668=)
c.1180-4840C>T
c.6369C>T (p.Asn2123=)
c.5019C>T (p.Asn1673=)
1g.207611735_207611736delinsCTCA2483456537CR1c.6354_6355delinsCT (p.Asn2118=)
c.5004_5005delinsCT (p.Asn1668=)
c.1180-4840_1180-4839delinsCT
c.6369_6370delinsCT (p.Asn2123=)
c.5019_5020delinsCT (p.Asn1673=)
1g.207611736T>ACA344545045CR1c.6355T>A (p.Phe2119Ile)
c.5005T>A (p.Phe1669Ile)
c.1180-4839T>A
c.6370T>A (p.Phe2124Ile)
c.5020T>A (p.Phe1674Ile)
1g.207611736T>CCA344545046CR1c.6355T>C (p.Phe2119Leu)
c.5005T>C (p.Phe1669Leu)
c.1180-4839T>C
c.6370T>C (p.Phe2124Leu)
c.5020T>C (p.Phe1674Leu)
1g.207611736T>GCA344545047CR1c.6355T>G (p.Phe2119Val)
c.5005T>G (p.Phe1669Val)
c.1180-4839T>G
c.6370T>G (p.Phe2124Val)
c.5020T>G (p.Phe1674Val)
1g.207611739delCA730633333CR1c.6358del (p.Ser2120HisfsTer?)
c.5008del (p.Ser1670HisfsTer?)
c.1180-4836del
c.6373del (p.Ser2125HisfsTer?)
c.5023del (p.Ser1675HisfsTer?)
 dbSNP gnomAD v3 gnomAD v4
1g.207611737T>ACA344545048CR1c.6356T>A (p.Phe2119Tyr)
c.5006T>A (p.Phe1669Tyr)
c.1180-4838T>A
c.6371T>A (p.Phe2124Tyr)
c.5021T>A (p.Phe1674Tyr)
1g.207611737T>CCA1370425CR1c.6356T>C (p.Phe2119Ser)
c.5006T>C (p.Phe1669Ser)
c.1180-4838T>C
c.6371T>C (p.Phe2124Ser)
c.5021T>C (p.Phe1674Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.207611737T>GCA344545049CR1c.6356T>G (p.Phe2119Cys)
c.5006T>G (p.Phe1669Cys)
c.1180-4838T>G
c.6371T>G (p.Phe2124Cys)
c.5021T>G (p.Phe1674Cys)
1g.207611737T=CA2483456538CR1c.6356T= (p.Phe2119=)
c.5006T= (p.Phe1669=)
c.1180-4838T=
c.6371T= (p.Phe2124=)
c.5021T= (p.Phe1674=)
1g.207611738T>ACA344545050CR1c.6357T>A (p.Phe2119Leu)
c.5007T>A (p.Phe1669Leu)
c.1180-4837T>A
c.6372T>A (p.Phe2124Leu)
c.5022T>A (p.Phe1674Leu)
1g.207611738T>CCA1370426CR1c.6357T>C (p.Phe2119=)
c.5007T>C (p.Phe1669=)
c.1180-4837T>C
c.6372T>C (p.Phe2124=)
c.5022T>C (p.Phe1674=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.207611738T>GCA344545051CR1c.6357T>G (p.Phe2119Leu)
c.5007T>G (p.Phe1669Leu)
c.1180-4837T>G
c.6372T>G (p.Phe2124Leu)
c.5022T>G (p.Phe1674Leu)
1g.207611738T=CA2483456539CR1c.6357T= (p.Phe2119=)
c.5007T= (p.Phe1669=)
c.1180-4837T=
c.6372T= (p.Phe2124=)
c.5022T= (p.Phe1674=)
1g.207611739T>ACA344545052CR1c.6358T>A (p.Ser2120Thr)
c.5008T>A (p.Ser1670Thr)
c.1180-4836T>A
c.6373T>A (p.Ser2125Thr)
c.5023T>A (p.Ser1675Thr)
1g.207611739T>CCA344545054CR1c.6358T>C (p.Ser2120Pro)
c.5008T>C (p.Ser1670Pro)
c.1180-4836T>C
c.6373T>C (p.Ser2125Pro)
c.5023T>C (p.Ser1675Pro)
1g.207611739T>GCA344545053CR1c.6358T>G (p.Ser2120Ala)
c.5008T>G (p.Ser1670Ala)
c.1180-4836T>G
c.6373T>G (p.Ser2125Ala)
c.5023T>G (p.Ser1675Ala)
1g.207611740C>ACA344545055CR1c.6359C>A (p.Ser2120Ter)
c.5009C>A (p.Ser1670Ter)
c.1180-4835C>A
c.6374C>A (p.Ser2125Ter)
c.5024C>A (p.Ser1675Ter)
1g.207611740C>GCA344545057CR1c.6359C>G (p.Ser2120Ter)
c.5009C>G (p.Ser1670Ter)
c.1180-4835C>G
c.6374C>G (p.Ser2125Ter)
c.5024C>G (p.Ser1675Ter)
1g.207611740C>TCA344545056CR1c.6359C>T (p.Ser2120Leu)
c.5009C>T (p.Ser1670Leu)
c.1180-4835C>T
c.6374C>T (p.Ser2125Leu)
c.5024C>T (p.Ser1675Leu)
 gnomAD v4 COSMIC COSMIC
1g.207611741A>CCA422972856CR1c.6360A>C (p.Ser2120=)
c.5010A>C (p.Ser1670=)
c.1180-4834A>C
c.6375A>C (p.Ser2125=)
c.5025A>C (p.Ser1675=)
1g.207611741A>GCA422972858CR1c.6360A>G (p.Ser2120=)
c.5010A>G (p.Ser1670=)
c.1180-4834A>G
c.6375A>G (p.Ser2125=)
c.5025A>G (p.Ser1675=)
1g.207611741A>TCA422972860CR1c.6360A>T (p.Ser2120=)
c.5010A>T (p.Ser1670=)
c.1180-4834A>T
c.6375A>T (p.Ser2125=)
c.5025A>T (p.Ser1675=)
1g.207611742C>ACA344545058CR1c.6361C>A (p.Pro2121Thr)
c.5011C>A (p.Pro1671Thr)
c.1180-4833C>A
c.6376C>A (p.Pro2126Thr)
c.5026C>A (p.Pro1676Thr)
1g.207611742C>GCA344545060CR1c.6361C>G (p.Pro2121Ala)
c.5011C>G (p.Pro1671Ala)
c.1180-4833C>G
c.6376C>G (p.Pro2126Ala)
c.5026C>G (p.Pro1676Ala)
1g.207611742C>TCA344545059CR1c.6361C>T (p.Pro2121Ser)
c.5011C>T (p.Pro1671Ser)
c.1180-4833C>T
c.6376C>T (p.Pro2126Ser)
c.5026C>T (p.Pro1676Ser)
1g.207611743C>ACA344545061CR1c.6362C>A (p.Pro2121His)
c.5012C>A (p.Pro1671His)
c.1180-4832C>A
c.6377C>A (p.Pro2126His)
c.5027C>A (p.Pro1676His)
1g.207611743C>GCA344545063CR1c.6362C>G (p.Pro2121Arg)
c.5012C>G (p.Pro1671Arg)
c.1180-4832C>G
c.6377C>G (p.Pro2126Arg)
c.5027C>G (p.Pro1676Arg)
1g.207611743C>TCA344545062CR1c.6362C>T (p.Pro2121Leu)
c.5012C>T (p.Pro1671Leu)
c.1180-4832C>T
c.6377C>T (p.Pro2126Leu)
c.5027C>T (p.Pro1676Leu)
 gnomAD v4
1g.207611744T>ACA422972866CR1c.6363T>A (p.Pro2121=)
c.5013T>A (p.Pro1671=)
c.1180-4831T>A
c.6378T>A (p.Pro2126=)
c.5028T>A (p.Pro1676=)
1g.207611744T>CCA422972869CR1c.6363T>C (p.Pro2121=)
c.5013T>C (p.Pro1671=)
c.1180-4831T>C
c.6378T>C (p.Pro2126=)
c.5028T>C (p.Pro1676=)
1g.207611744T>GCA422972868CR1c.6363T>G (p.Pro2121=)
c.5013T>G (p.Pro1671=)
c.1180-4831T>G
c.6378T>G (p.Pro2126=)
c.5028T>G (p.Pro1676=)
1g.207611745G>ACA344545064CR1c.6364G>A (p.Gly2122Arg)
c.5014G>A (p.Gly1672Arg)
c.1180-4830G>A
c.6379G>A (p.Gly2127Arg)
c.5029G>A (p.Gly1677Arg)
 gnomAD v4
1g.207611745G>CCA344545065CR1c.6364G>C (p.Gly2122Arg)
c.5014G>C (p.Gly1672Arg)
c.1180-4830G>C
c.6379G>C (p.Gly2127Arg)
c.5029G>C (p.Gly1677Arg)
1g.207611745G>TCA344545066CR1c.6364G>T (p.Gly2122Trp)
c.5014G>T (p.Gly1672Trp)
c.1180-4830G>T
c.6379G>T (p.Gly2127Trp)
c.5029G>T (p.Gly1677Trp)
1g.207611746G>ACA344545067CR1c.6365G>A (p.Gly2122Glu)
c.5015G>A (p.Gly1672Glu)
c.1180-4829G>A
c.6380G>A (p.Gly2127Glu)
c.5030G>A (p.Gly1677Glu)
 dbSNP gnomAD v2 gnomAD v4
1g.207611746G>CCA36655208CR1c.6365G>C (p.Gly2122Ala)
c.5015G>C (p.Gly1672Ala)
c.1180-4829G>C
c.6380G>C (p.Gly2127Ala)
c.5030G>C (p.Gly1677Ala)
 dbSNP gnomAD v3 gnomAD v4
1g.207611746G=CA1143924818CR1c.6365G= (p.Gly2122=)
c.5015G= (p.Gly1672=)
c.1180-4829G=
c.6380G= (p.Gly2127=)
c.5030G= (p.Gly1677=)
1g.207611746G>TCA344545068CR1c.6365G>T (p.Gly2122Val)
c.5015G>T (p.Gly1672Val)
c.1180-4829G>T
c.6380G>T (p.Gly2127Val)
c.5030G>T (p.Gly1677Val)
1g.207611747G>ACA422972877CR1c.6366G>A (p.Gly2122=)
c.5016G>A (p.Gly1672=)
c.1180-4828G>A
c.6381G>A (p.Gly2127=)
c.5031G>A (p.Gly1677=)
1g.207611747G>CCA422972879CR1c.6366G>C (p.Gly2122=)
c.5016G>C (p.Gly1672=)
c.1180-4828G>C
c.6381G>C (p.Gly2127=)
c.5031G>C (p.Gly1677=)
1g.207611747G=CA2483456540CR1c.6366G= (p.Gly2122=)
c.5016G= (p.Gly1672=)
c.1180-4828G=
c.6381G= (p.Gly2127=)
c.5031G= (p.Gly1677=)
1g.207611747G>TCA422972880CR1c.6366G>T (p.Gly2122=)
c.5016G>T (p.Gly1672=)
c.1180-4828G>T
c.6381G>T (p.Gly2127=)
c.5031G>T (p.Gly1677=)
 dbSNP gnomAD v3 gnomAD v4
1g.207611748C>ACA344545069CR1c.6367C>A (p.Gln2123Lys)
c.5017C>A (p.Gln1673Lys)
c.1180-4827C>A
c.6382C>A (p.Gln2128Lys)
c.5032C>A (p.Gln1678Lys)
1g.207611748C>GCA344545070CR1c.6367C>G (p.Gln2123Glu)
c.5017C>G (p.Gln1673Glu)
c.1180-4827C>G
c.6382C>G (p.Gln2128Glu)
c.5032C>G (p.Gln1678Glu)
1g.207611748C>TCA344545071CR1c.6367C>T (p.Gln2123Ter)
c.5017C>T (p.Gln1673Ter)
c.1180-4827C>T
c.6382C>T (p.Gln2128Ter)
c.5032C>T (p.Gln1678Ter)
1g.207611749A=CA2483456541CR1c.6368A= (p.Gln2123=)
c.5018A= (p.Gln1673=)
c.1180-4826A=
c.6383A= (p.Gln2128=)
c.5033A= (p.Gln1678=)
1g.207611749A>CCA344545072CR1c.6368A>C (p.Gln2123Pro)
c.5018A>C (p.Gln1673Pro)
c.1180-4826A>C
c.6383A>C (p.Gln2128Pro)
c.5033A>C (p.Gln1678Pro)
1g.207611749A>GCA36655210CR1c.6368A>G (p.Gln2123Arg)
c.5018A>G (p.Gln1673Arg)
c.1180-4826A>G
c.6383A>G (p.Gln2128Arg)
c.5033A>G (p.Gln1678Arg)
 dbSNP gnomAD v3 gnomAD v4
1g.207611749A>TCA344545073CR1c.6368A>T (p.Gln2123Leu)
c.5018A>T (p.Gln1673Leu)
c.1180-4826A>T
c.6383A>T (p.Gln2128Leu)
c.5033A>T (p.Gln1678Leu)
1g.207611750G>ACA422972886CR1c.6369G>A (p.Gln2123=)
c.5019G>A (p.Gln1673=)
c.1180-4825G>A
c.6384G>A (p.Gln2128=)
c.5034G>A (p.Gln1678=)
1g.207611750G>CCA344545074CR1c.6369G>C (p.Gln2123His)
c.5019G>C (p.Gln1673His)
c.1180-4825G>C
c.6384G>C (p.Gln2128His)
c.5034G>C (p.Gln1678His)
1g.207611750G>TCA344545075CR1c.6369G>T (p.Gln2123His)
c.5019G>T (p.Gln1673His)
c.1180-4825G>T
c.6384G>T (p.Gln2128His)
c.5034G>T (p.Gln1678His)
1g.207611751G>ACA1370427CR1c.6370G>A (p.Glu2124Lys)
c.5020G>A (p.Glu1674Lys)
c.1180-4824G>A
c.6385G>A (p.Glu2129Lys)
c.5035G>A (p.Glu1679Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.207611751G>CCA344545077CR1c.6370G>C (p.Glu2124Gln)
c.5020G>C (p.Glu1674Gln)
c.1180-4824G>C
c.6385G>C (p.Glu2129Gln)
c.5035G>C (p.Glu1679Gln)
 dbSNP
1g.207611751G=CA2483456542CR1c.6370G= (p.Glu2124=)
c.5020G= (p.Glu1674=)
c.1180-4824G=
c.6385G= (p.Glu2129=)
c.5035G= (p.Glu1679=)
1g.207611751G>TCA344545076CR1c.6370G>T (p.Glu2124Ter)
c.5020G>T (p.Glu1674Ter)
c.1180-4824G>T
c.6385G>T (p.Glu2129Ter)
c.5035G>T (p.Glu1679Ter)
 gnomAD v4

Number of alleles fetched