Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.2496245C>ACA394374504TBC1D24c.97C>A (p.Gln33Lys)
n.279C>A
gnomAD v4
16g.2496245C=CA2202259700TBC1D24c.97C= (p.Gln33=)
n.279C=
16g.2496245C>GCA394374506TBC1D24c.97C>G (p.Gln33Glu)
n.279C>G
16g.2496245C>TCA394374508TBC1D24c.97C>T (p.Gln33Ter)
n.279C>T
dbSNP
16g.2496246delCA2631209043TBC1D24c.98del (p.Gln33ArgfsTer3)
n.280del
gnomAD v4
16g.2496246A=CA2202259701TBC1D24c.98A= (p.Gln33=)
n.280A=
16g.2496246A>CCA394374510TBC1D24c.98A>C (p.Gln33Pro)
n.280A>C
dbSNP
16g.2496246A>GCA394374511TBC1D24c.98A>G (p.Gln33Arg)
n.280A>G
gnomAD v4
16g.2496246A>TCA394374512TBC1D24c.98A>T (p.Gln33Leu)
n.280A>T
16g.2496247G>ACA493160442TBC1D24c.99G>A (p.Gln33=)
n.281G>A
16g.2496247G>CCA394374516TBC1D24c.99G>C (p.Gln33His)
n.281G>C
16g.2496247G=CA2202259702TBC1D24c.99G= (p.Gln33=)
n.281G=
16g.2496247G>TCA394374514TBC1D24c.99G>T (p.Gln33His)
n.281G>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496248G>ACA394374518TBC1D24c.100G>A (p.Glu34Lys)
n.282G>A
16g.2496248G>CCA394374522TBC1D24c.100G>C (p.Glu34Gln)
n.282G>C
16g.2496248G>TCA394374521TBC1D24c.100G>T (p.Glu34Ter)
n.282G>T
16g.2496249A>CCA394374523TBC1D24c.101A>C (p.Glu34Ala)
n.283A>C
16g.2496249A>GCA394374524TBC1D24c.101A>G (p.Glu34Gly)
n.283A>G
16g.2496249A>TCA394374525TBC1D24c.101A>T (p.Glu34Val)
n.283A>T
16g.2496250A=CA2202259703TBC1D24c.102A= (p.Glu34=)
n.284A=
16g.2496250A>CCA394374528TBC1D24c.102A>C (p.Glu34Asp)
n.284A>C
16g.2496250A>GCA493160453TBC1D24c.102A>G (p.Glu34=)
n.284A>G
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496250A>TCA394374530TBC1D24c.102A>T (p.Glu34Asp)
n.284A>T
16g.2496251C>ACA394374533TBC1D24c.103C>A (p.Leu35Met)
n.285C>A
16g.2496251C>GCA394374535TBC1D24c.103C>G (p.Leu35Val)
n.285C>G
16g.2496251C>TCA493160457TBC1D24c.103C>T (p.Leu35=)
n.285C>T
16g.2496252T>ACA394374536TBC1D24c.104T>A (p.Leu35Gln)
n.286T>A
16g.2496252T>CCA394374538TBC1D24c.104T>C (p.Leu35Pro)
n.286T>C
COSMIC
16g.2496252T>GCA394374540TBC1D24c.104T>G (p.Leu35Arg)
n.286T>G
16g.2496253G>ACA493366520TBC1D24c.105G>A (p.Leu35=)
n.287G>A
gnomAD v4
16g.2496253G>CCA493366522TBC1D24c.105G>C (p.Leu35=)
n.287G>C
16g.2496253G>TCA493366521TBC1D24c.105G>T (p.Leu35=)
n.287G>T
16g.2496254A>CCA394374542TBC1D24c.106A>C (p.Lys36Gln)
n.288A>C
16g.2496254A>GCA394374544TBC1D24c.106A>G (p.Lys36Glu)
n.288A>G
16g.2496254A>TCA394374546TBC1D24c.106A>T (p.Lys36Ter)
n.288A>T
16g.2496255A>CCA394374548TBC1D24c.107A>C (p.Lys36Thr)
n.289A>C
16g.2496255A>GCA394374552TBC1D24c.107A>G (p.Lys36Arg)
n.289A>G
16g.2496255A>TCA394374550TBC1D24c.107A>T (p.Lys36Met)
n.289A>T
16g.2496256G>ACA493366523TBC1D24c.108G>A (p.Lys36=)
n.290G>A
gnomAD v4
16g.2496256G>CCA394374554TBC1D24c.108G>C (p.Lys36Asn)
n.290G>C
16g.2496256G>TCA394374556TBC1D24c.108G>T (p.Lys36Asn)
n.290G>T
16g.2496257C>ACA394374558TBC1D24c.109C>A (p.Gln37Lys)
n.291C>A
16g.2496257C>GCA394374560TBC1D24c.109C>G (p.Gln37Glu)
n.291C>G
16g.2496257C>TCA394374562TBC1D24c.109C>T (p.Gln37Ter)
n.291C>T
16g.2496258A>CCA394374565TBC1D24c.110A>C (p.Gln37Pro)
n.292A>C
16g.2496258A>GCA394374567TBC1D24c.110A>G (p.Gln37Arg)
n.292A>G
16g.2496258A>TCA394374569TBC1D24c.110A>T (p.Gln37Leu)
n.292A>T
16g.2496259G>ACA493366524TBC1D24c.111G>A (p.Gln37=)
n.293G>A
16g.2496259G>CCA394374570TBC1D24c.111G>C (p.Gln37His)
n.293G>C
16g.2496259G>TCA394374571TBC1D24c.111G>T (p.Gln37His)
n.293G>T
16g.2496260C>ACA394374577TBC1D24c.112C>A (p.Leu38Met)
n.294C>A
16g.2496260C>GCA394374574TBC1D24c.112C>G (p.Leu38Val)
n.294C>G
16g.2496260C>TCA493366525TBC1D24c.112C>T (p.Leu38=)
n.294C>T
16g.2496261T>ACA394374579TBC1D24c.113T>A (p.Leu38Gln)
n.295T>A
16g.2496261T>CCA394374581TBC1D24c.113T>C (p.Leu38Pro)
n.295T>C
16g.2496261T>GCA394374583TBC1D24c.113T>G (p.Leu38Arg)
n.295T>G
16g.2496262G>ACA493366526TBC1D24c.114G>A (p.Leu38=)
n.296G>A
16g.2496262G>CCA493366527TBC1D24c.114G>C (p.Leu38=)
n.296G>C
16g.2496262G>TCA493366528TBC1D24c.114G>T (p.Leu38=)
n.296G>T
16g.2496263G>ACA7843922TBC1D24c.115G>A (p.Ala39Thr)
n.297G>A
dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496263G>CCA394374586TBC1D24c.115G>C (p.Ala39Pro)
n.297G>C
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2496263G=CA2202259704TBC1D24c.115G= (p.Ala39=)
n.297G=
16g.2496263G>TCA394374588TBC1D24c.115G>T (p.Ala39Ser)
n.297G>T
16g.2496264C>ACA7843923TBC1D24c.116C>A (p.Ala39Glu)
n.298C>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496264C=CA2202259705TBC1D24c.116C= (p.Ala39=)
n.298C=
16g.2496264C>GCA394374590TBC1D24c.116C>G (p.Ala39Gly)
n.298C>G
16g.2496264C>TCA7843924TBC1D24c.116C>T (p.Ala39Val)
n.298C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.2496265G>ACA7843925TBC1D24c.117G>A (p.Ala39=)
n.299G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496265G>CCA493366529TBC1D24c.117G>C (p.Ala39=)
n.299G>C
16g.2496265G=CA2202259706TBC1D24c.117G= (p.Ala39=)
n.299G=
16g.2496265G>TCA493366530TBC1D24c.117G>T (p.Ala39=)
n.299G>T
16g.2496266C>ACA394374595TBC1D24c.118C>A (p.Arg40Ser)
n.300C>A
16g.2496266C=CA2202259707TBC1D24c.118C= (p.Arg40=)
n.300C=
16g.2496266C>GCA394374598TBC1D24c.118C>G (p.Arg40Gly)
n.300C>G
dbSNP gnomAD v4
16g.2496266C>TCA345418TBC1D24c.118C>T (p.Arg40Cys)
n.300C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
16g.2496267G>ACA394374601TBC1D24c.119G>A (p.Arg40His)
n.301G>A
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2496267G>CCA7843926TBC1D24c.119G>C (p.Arg40Pro)
n.301G>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496267G=CA2202259708TBC1D24c.119G= (p.Arg40=)
n.301G=
16g.2496267G>TCA347136TBC1D24c.119G>T (p.Arg40Leu)
n.301G>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496268C>ACA493366531TBC1D24c.120C>A (p.Arg40=)
n.302C>A
16g.2496268C>GCA493366532TBC1D24c.120C>G (p.Arg40=)
n.302C>G
16g.2496268C>TCA493366533TBC1D24c.120C>T (p.Arg40=)
n.302C>T
16g.2496269C>ACA394374604TBC1D24c.121C>A (p.Gln41Lys)
n.303C>A
16g.2496269C=CA2202259709TBC1D24c.121C= (p.Gln41=)
n.303C=
16g.2496269C>GCA394374606TBC1D24c.121C>G (p.Gln41Glu)
n.303C>G
16g.2496269C>TCA16608135TBC1D24c.121C>T (p.Gln41Ter)
n.303C>T
ClinVar dbSNP
16g.2496270A>CCA394374609TBC1D24c.122A>C (p.Gln41Pro)
n.304A>C
16g.2496270A>GCA394374610TBC1D24c.122A>G (p.Gln41Arg)
n.304A>G
16g.2496270A>TCA394374612TBC1D24c.122A>T (p.Gln41Leu)
n.304A>T
16g.2496271G>ACA493366534TBC1D24c.123G>A (p.Gln41=)
n.305G>A
16g.2496271G>CCA394374614TBC1D24c.123G>C (p.Gln41His)
n.305G>C
16g.2496271G=CA2202259710TBC1D24c.123G= (p.Gln41=)
n.305G=
16g.2496271G>TCA7843927TBC1D24c.123G>T (p.Gln41His)
n.305G>T
dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496272G>ACA394374618TBC1D24c.124G>A (p.Gly42Ser)
n.306G>A
16g.2496272G>CCA394374619TBC1D24c.124G>C (p.Gly42Arg)
n.306G>C
16g.2496272G>TCA394374620TBC1D24c.124G>T (p.Gly42Cys)
n.306G>T
16g.2496273G>ACA394374623TBC1D24c.125G>A (p.Gly42Asp)
n.307G>A
gnomAD v4
16g.2496273G>CCA394374625TBC1D24c.125G>C (p.Gly42Ala)
n.307G>C
16g.2496273G>TCA394374627TBC1D24c.125G>T (p.Gly42Val)
n.307G>T
16g.2496274C>ACA493366536TBC1D24c.126C>A (p.Gly42=)
n.308C>A
16g.2496274C>GCA493366537TBC1D24c.126C>G (p.Gly42=)
n.308C>G
16g.2496274C>TCA493366535TBC1D24c.126C>T (p.Gly42=)
n.308C>T
16g.2496275T>ACA394374632TBC1D24c.127T>A (p.Tyr43Asn)
n.309T>A
16g.2496275T>CCA394374634TBC1D24c.127T>C (p.Tyr43His)
n.309T>C
16g.2496275T>GCA394374630TBC1D24c.127T>G (p.Tyr43Asp)
n.309T>G
16g.2496276A>CCA394374640TBC1D24c.128A>C (p.Tyr43Ser)
n.310A>C
gnomAD v4
16g.2496276A>GCA394374636TBC1D24c.128A>G (p.Tyr43Cys)
n.310A>G
16g.2496276A>TCA394374638TBC1D24c.128A>T (p.Tyr43Phe)
n.310A>T
16g.2496277C>ACA394374642TBC1D24c.129C>A (p.Tyr43Ter)
n.311C>A
16g.2496277C>GCA394374644TBC1D24c.129C>G (p.Tyr43Ter)
n.311C>G
16g.2496277C>TCA493366538TBC1D24c.129C>T (p.Tyr43=)
n.311C>T
16g.2496278T>ACA394374647TBC1D24c.130T>A (p.Trp44Arg)
n.312T>A
16g.2496278T>CCA394374649TBC1D24c.130T>C (p.Trp44Arg)
n.312T>C
ClinVar dbSNP
16g.2496278T>GCA394374651TBC1D24c.130T>G (p.Trp44Gly)
n.312T>G
16g.2496278T=CA2202259711TBC1D24c.130T= (p.Trp44=)
n.312T=
16g.2496279G>ACA394374654TBC1D24c.131G>A (p.Trp44Ter)
n.313G>A
ClinVar dbSNP gnomAD v4
16g.2496279G>CCA394374655TBC1D24c.131G>C (p.Trp44Ser)
n.313G>C
16g.2496279G=CA2202259712TBC1D24c.131G= (p.Trp44=)
n.313G=
16g.2496279G>TCA394374657TBC1D24c.131G>T (p.Trp44Leu)
n.313G>T
16g.2496280G>ACA7843928TBC1D24c.132G>A (p.Trp44Ter)
n.314G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496280G>CCA394374659TBC1D24c.132G>C (p.Trp44Cys)
n.314G>C
dbSNP
16g.2496280G=CA2202259713TBC1D24c.132G= (p.Trp44=)
n.314G=
16g.2496280G>TCA394374661TBC1D24c.132G>T (p.Trp44Cys)
n.314G>T
16g.2496281G>ACA394374666TBC1D24c.133G>A (p.Ala45Thr)
n.315G>A
16g.2496281G>CCA394374664TBC1D24c.133G>C (p.Ala45Pro)
n.315G>C
16g.2496281G>TCA394374662TBC1D24c.133G>T (p.Ala45Ser)
n.315G>T
gnomAD v4
16g.2496281_2496282delinsGCCA2202259714TBC1D24c.133_134delinsGC (p.Ala45=)
n.315_316delinsGC
16g.2496282C>ACA394374668TBC1D24c.134C>A (p.Ala45Asp)
n.316C>A
16g.2496282C=CA2202259715TBC1D24c.134C= (p.Ala45=)
n.316C=
16g.2496282C>GCA394374670TBC1D24c.134C>G (p.Ala45Gly)
n.316C>G
16g.2496282C>TCA394374671TBC1D24c.134C>T (p.Ala45Val)
n.316C>T
dbSNP
16g.2496284delCA719346151TBC1D24c.136del (p.Gln46LysfsTer13)
c.136del (p.Gln46LysfsTer?)
n.318del
dbSNP
16g.2496283C>ACA493366539TBC1D24c.135C>A (p.Ala45=)
n.317C>A
16g.2496283C>GCA493366540TBC1D24c.135C>G (p.Ala45=)
n.317C>G
16g.2496283C>TCA493366541TBC1D24c.135C>T (p.Ala45=)
n.317C>T
gnomAD v4
16g.2496284C>ACA394374674TBC1D24c.136C>A (p.Gln46Lys)
n.318C>A
16g.2496284C>GCA394374676TBC1D24c.136C>G (p.Gln46Glu)
n.318C>G
16g.2496284C>TCA394374678TBC1D24c.136C>T (p.Gln46Ter)
n.318C>T
16g.2496285A>CCA394374680TBC1D24c.137A>C (p.Gln46Pro)
n.319A>C
16g.2496285A>GCA394374682TBC1D24c.137A>G (p.Gln46Arg)
n.319A>G
16g.2496285A>TCA394374684TBC1D24c.137A>T (p.Gln46Leu)
n.319A>T
16g.2496286A>CCA394374686TBC1D24c.138A>C (p.Gln46His)
n.320A>C
16g.2496286A>GCA493366542TBC1D24c.138A>G (p.Gln46=)
n.320A>G
16g.2496286A>TCA394374687TBC1D24c.138A>T (p.Gln46His)
n.320A>T
16g.2496287A>CCA394374690TBC1D24c.139A>C (p.Ser47Arg)
n.321A>C
16g.2496287A>GCA394374692TBC1D24c.139A>G (p.Ser47Gly)
n.321A>G
16g.2496287A>TCA394374694TBC1D24c.139A>T (p.Ser47Cys)
n.321A>T
16g.2496288G>ACA394374698TBC1D24c.140G>A (p.Ser47Asn)
n.322G>A
16g.2496288G>CCA394374699TBC1D24c.140G>C (p.Ser47Thr)
n.322G>C
16g.2496288G>TCA394374696TBC1D24c.140G>T (p.Ser47Ile)
n.322G>T
16g.2496289C>ACA394374701TBC1D24c.141C>A (p.Ser47Arg)
n.323C>A
16g.2496289C>GCA394374703TBC1D24c.141C>G (p.Ser47Arg)
n.323C>G
16g.2496289C>TCA493366543TBC1D24c.141C>T (p.Ser47=)
n.323C>T
16g.2496290C>ACA394374705TBC1D24c.142C>A (p.His48Asn)
n.324C>A
16g.2496290C>GCA394374706TBC1D24c.142C>G (p.His48Asp)
n.324C>G
16g.2496290C>TCA394374708TBC1D24c.142C>T (p.His48Tyr)
n.324C>T
gnomAD v4
16g.2496290_2496291insCACACCAAACACACCCAACACCA2805583147TBC1D24c.142_143insCACACCAAACACACCCAACAC (p.Ser47_His48insProHisGlnThrHisProThr)
n.324_325insCACACCAAACACACCCAACAC
16g.2496291A=CA2202259716TBC1D24c.143A= (p.His48=)
n.325A=
16g.2496291A>CCA394374709TBC1D24c.143A>C (p.His48Pro)
n.325A>C
dbSNP
16g.2496291A>GCA394374711TBC1D24c.143A>G (p.His48Arg)
n.325A>G
16g.2496291A>TCA7843929TBC1D24c.143A>T (p.His48Leu)
n.325A>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496292C>ACA394374713TBC1D24c.144C>A (p.His48Gln)
n.326C>A
16g.2496292C=CA2202259717TBC1D24c.144C= (p.His48=)
n.326C=
16g.2496292C>GCA7843931TBC1D24c.144C>G (p.His48Gln)
n.326C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496292C>TCA7843930TBC1D24c.144C>T (p.His48=)
n.326C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496293G>ACA7843932TBC1D24c.145G>A (p.Ala49Thr)
n.327G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.2496293G>CCA394374719TBC1D24c.145G>C (p.Ala49Pro)
n.327G>C
gnomAD v4
16g.2496293G=CA2202259718TBC1D24c.145G= (p.Ala49=)
n.327G=
16g.2496293G>TCA394374717TBC1D24c.145G>T (p.Ala49Ser)
n.327G>T
gnomAD v4
16g.2496294C>ACA394374722TBC1D24c.146C>A (p.Ala49Asp)
n.328C>A
16g.2496294C=CA2202259719TBC1D24c.146C= (p.Ala49=)
n.328C=
16g.2496294C>GCA394374724TBC1D24c.146C>G (p.Ala49Gly)
n.328C>G
16g.2496294C>TCA394374727TBC1D24c.146C>T (p.Ala49Val)
n.328C>T
dbSNP gnomAD v2 gnomAD v4
16g.2496295C>ACA493366546TBC1D24c.147C>A (p.Ala49=)
n.329C>A
16g.2496295C>GCA493366544TBC1D24c.147C>G (p.Ala49=)
n.329C>G
16g.2496295C>TCA493366545TBC1D24c.147C>T (p.Ala49=)
n.329C>T
16g.2496296C>ACA394374728TBC1D24c.148C>A (p.Leu50Met)
n.330C>A
16g.2496296C=CA2202259720TBC1D24c.148C= (p.Leu50=)
n.330C=
16g.2496296C>GCA394374729TBC1D24c.148C>G (p.Leu50Val)
n.330C>G
16g.2496296C>TCA493366547TBC1D24c.148C>T (p.Leu50=)
n.330C>T
dbSNP gnomAD v3 gnomAD v4
16g.2496297T>ACA394374731TBC1D24c.149T>A (p.Leu50Gln)
n.331T>A
16g.2496297T>CCA394374733TBC1D24c.149T>C (p.Leu50Pro)
n.331T>C
16g.2496297T>GCA394374735TBC1D24c.149T>G (p.Leu50Arg)
n.331T>G
16g.2496298G>ACA493366550TBC1D24c.150G>A (p.Leu50=)
n.332G>A
16g.2496298G>CCA493366549TBC1D24c.150G>C (p.Leu50=)
n.332G>C
dbSNP
16g.2496298G=CA2202259721TBC1D24c.150G= (p.Leu50=)
n.332G=
16g.2496298G>TCA493366548TBC1D24c.150G>T (p.Leu50=)
n.332G>T
16g.2496299C>ACA493366551TBC1D24c.151C>A (p.Arg51=)
n.333C>A
16g.2496299C=CA2202259722TBC1D24c.151C= (p.Arg51=)
n.333C=
16g.2496299C>GCA394374737TBC1D24c.151C>G (p.Arg51Gly)
n.333C>G
16g.2496299C>TCA10648174TBC1D24c.151C>T (p.Arg51Trp)
n.333C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2496300G>ACA7843933TBC1D24c.152G>A (p.Arg51Gln)
n.334G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496300G>CCA394374742TBC1D24c.152G>C (p.Arg51Pro)
n.334G>C
16g.2496300G=CA2202259723TBC1D24c.152G= (p.Arg51=)
n.334G=
16g.2496300G>TCA394374744TBC1D24c.152G>T (p.Arg51Leu)
n.334G>T
gnomAD v4
16g.2496303delCA2631209167TBC1D24c.155del (p.Gly52GlufsTer7)
c.155del (p.Gly52GlufsTer?)
n.337del
gnomAD v4
16g.2496301G>ACA493366554TBC1D24c.153G>A (p.Arg51=)
n.335G>A
16g.2496301G>CCA493366552TBC1D24c.153G>C (p.Arg51=)
n.335G>C
16g.2496301G>TCA493366553TBC1D24c.153G>T (p.Arg51=)
n.335G>T
gnomAD v4
16g.2496302G>ACA7843935TBC1D24c.154G>A (p.Gly52Arg)
n.336G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496302G>CCA394374749TBC1D24c.154G>C (p.Gly52Arg)
n.336G>C
16g.2496302G=CA2202259724TBC1D24c.154G= (p.Gly52=)
n.336G=
16g.2496302G>TCA394374747TBC1D24c.154G>T (p.Gly52Ter)
n.336G>T
16g.2496303G>ACA7843936TBC1D24c.155G>A (p.Gly52Glu)
n.337G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496303G>CCA394374755TBC1D24c.155G>C (p.Gly52Ala)
n.337G>C
16g.2496303G=CA2202259726TBC1D24c.155G= (p.Gly52=)
n.337G=
16g.2496303G>TCA394374752TBC1D24c.155G>T (p.Gly52Val)
n.337G>T
16g.2496303_2496304delinsGACA2202259725TBC1D24c.155_156delinsGA (p.Gly52=)
n.337_338delinsGA
16g.2496303_2496305dupCA7843934TBC1D24c.155_157dup (p.Gly52_Lys53insArg)
n.337_339dup
dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496304A>CCA493366555TBC1D24c.156A>C (p.Gly52=)
n.338A>C
16g.2496304A>GCA493366556TBC1D24c.156A>G (p.Gly52=)
n.338A>G
16g.2496304A>TCA493366557TBC1D24c.156A>T (p.Gly52=)
n.338A>T
16g.2496306delCA620709055TBC1D24c.158del (p.Lys53ArgfsTer6)
c.158del (p.Lys53ArgfsTer?)
n.340del
dbSNP gnomAD v2 gnomAD v4
16g.2496305A>CCA394374757TBC1D24c.157A>C (p.Lys53Gln)
n.339A>C
16g.2496305A>GCA394374759TBC1D24c.157A>G (p.Lys53Glu)
n.339A>G
gnomAD v4
16g.2496305A>TCA394374760TBC1D24c.157A>T (p.Lys53Ter)
n.339A>T
16g.2496306A>CCA394374762TBC1D24c.158A>C (p.Lys53Thr)
n.340A>C
16g.2496306A>GCA394374765TBC1D24c.158A>G (p.Lys53Arg)
n.340A>G
16g.2496306A>TCA394374766TBC1D24c.158A>T (p.Lys53Met)
n.340A>T
16g.2496307G>ACA493366558TBC1D24c.159G>A (p.Lys53=)
n.341G>A
16g.2496307G>CCA394374768TBC1D24c.159G>C (p.Lys53Asn)
n.341G>C
16g.2496307G>TCA394374770TBC1D24c.159G>T (p.Lys53Asn)
n.341G>T
gnomAD v4
16g.2496308G>ACA394374772TBC1D24c.160G>A (p.Val54Met)
c.160G>A
n.342G>A
16g.2496308G>CCA394374774TBC1D24c.160G>C (p.Val54Leu)
c.160G>C
n.342G>C
16g.2496308G=CA2202259727TBC1D24c.160G= (p.Val54=)
c.160G=
n.342G=
16g.2496308G>TCA394374776TBC1D24c.160G>T (p.Val54Leu)
c.160G>T
n.342G>T
ClinVar dbSNP gnomAD v4
16g.2496309T>ACA394374781TBC1D24c.161T>A (p.Val54Glu)
c.161T>A
n.343T>A
16g.2496309T>CCA394374780TBC1D24c.161T>C (p.Val54Ala)
c.161T>C
n.343T>C
dbSNP gnomAD v2 gnomAD v4
16g.2496309T>GCA394374779TBC1D24c.161T>G (p.Val54Gly)
c.161T>G
n.343T>G
16g.2496309T=CA2202259728TBC1D24c.161T= (p.Val54=)
c.161T=
n.343T=
16g.2496310G>ACA7843937TBC1D24c.162G>A (p.Val54=)
n.344G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496310G>CCA493366559TBC1D24c.162G>C (p.Val54=)
n.344G>C
dbSNP
16g.2496310G=CA2202259729TBC1D24c.162G= (p.Val54=)
n.344G=
16g.2496310G>TCA493366560TBC1D24c.162G>T (p.Val54=)
n.344G>T
16g.2496311T>ACA394374785TBC1D24c.163T>A (p.Tyr55Asn)
n.345T>A
16g.2496311T>CCA394374787TBC1D24c.163T>C (p.Tyr55His)
n.345T>C
16g.2496311T>GCA394374790TBC1D24c.163T>G (p.Tyr55Asp)
n.345T>G
16g.2496312A=CA2202259730TBC1D24c.164A= (p.Tyr55=)
n.346A=
16g.2496312A>CCA394374791TBC1D24c.164A>C (p.Tyr55Ser)
n.346A>C
dbSNP
16g.2496312A>GCA394374792TBC1D24c.164A>G (p.Tyr55Cys)
n.346A>G
dbSNP gnomAD v4
16g.2496312A>TCA394374794TBC1D24c.164A>T (p.Tyr55Phe)
n.346A>T
16g.2496313C>ACA394374796TBC1D24c.165C>A (p.Tyr55Ter)
n.347C>A
16g.2496313C>GCA394374797TBC1D24c.165C>G (p.Tyr55Ter)
n.347C>G
16g.2496313C>TCA493366561TBC1D24c.165C>T (p.Tyr55=)
n.347C>T
16g.2496314C>ACA394374799TBC1D24c.166C>A (p.Gln56Lys)
n.348C>A
16g.2496314C>GCA394374802TBC1D24c.166C>G (p.Gln56Glu)
n.348C>G
16g.2496314C>TCA394374804TBC1D24c.166C>T (p.Gln56Ter)
n.348C>T
16g.2496315A>CCA394374807TBC1D24c.167A>C (p.Gln56Pro)
n.349A>C
16g.2496315A>GCA394374809TBC1D24c.167A>G (p.Gln56Arg)
n.349A>G
16g.2496315A>TCA394374805TBC1D24c.167A>T (p.Gln56Leu)
n.349A>T
ClinVar dbSNP gnomAD v4
16g.2496316G>ACA493366562TBC1D24c.168G>A (p.Gln56=)
n.350G>A
16g.2496316G>CCA394374811TBC1D24c.168G>C (p.Gln56His)
n.350G>C
16g.2496316G>TCA394374813TBC1D24c.168G>T (p.Gln56His)
n.350G>T
gnomAD v4
16g.2496317C>ACA7843938TBC1D24c.169C>A (p.Arg57Ser)
n.351C>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496317C=CA2202259731TBC1D24c.169C= (p.Arg57=)
n.351C=
16g.2496317C>GCA394374816TBC1D24c.169C>G (p.Arg57Gly)
n.351C>G
16g.2496317C>TCA241775TBC1D24c.169C>T (p.Arg57Cys)
n.351C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496318G>ACA7843939TBC1D24c.170G>A (p.Arg57His)
n.352G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496318G>CCA394374822TBC1D24c.170G>C (p.Arg57Pro)
n.352G>C
16g.2496318G=CA2202259732TBC1D24c.170G= (p.Arg57=)
n.352G=
16g.2496318G>TCA394374820TBC1D24c.170G>T (p.Arg57Leu)
n.352G>T
gnomAD v4
16g.2496318_2496319delinsGCCA2202259733TBC1D24c.170_171delinsGC (p.Arg57=)
n.352_353delinsGC
16g.2496319C>ACA493366565TBC1D24c.171C>A (p.Arg57=)
n.353C>A
16g.2496319C>GCA493366564TBC1D24c.171C>G (p.Arg57=)
n.353C>G
16g.2496319C>TCA493366563TBC1D24c.171C>T (p.Arg57=)
n.353C>T
16g.2496320delCA620709056TBC1D24c.172del (p.Leu58Ter)
n.354del
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2496320C>ACA7843940TBC1D24c.172C>A (p.Leu58Met)
n.354C>A
dbSNP ExAC
16g.2496320C=CA2202259734TBC1D24c.172C= (p.Leu58=)
n.354C=
16g.2496320C>GCA394374826TBC1D24c.172C>G (p.Leu58Val)
n.354C>G
16g.2496320C>TCA493366566TBC1D24c.172C>T (p.Leu58=)
n.354C>T
16g.2496321T>ACA394374828TBC1D24c.173T>A (p.Leu58Gln)
n.355T>A
16g.2496321T>CCA394374829TBC1D24c.173T>C (p.Leu58Pro)
n.355T>C
16g.2496321T>GCA394374830TBC1D24c.173T>G (p.Leu58Arg)
n.355T>G
16g.2496322G>ACA7843941TBC1D24c.174G>A (p.Leu58=)
n.356G>A
dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496322G>CCA493366568TBC1D24c.174G>C (p.Leu58=)
n.356G>C
16g.2496322G=CA2202259735TBC1D24c.174G= (p.Leu58=)
n.356G=
16g.2496322G>TCA493366567TBC1D24c.174G>T (p.Leu58=)
n.356G>T
16g.2496323A>CCA394374833TBC1D24c.175A>C (p.Ile59Leu)
n.357A>C
16g.2496323A>GCA394374837TBC1D24c.175A>G (p.Ile59Val)
n.357A>G
gnomAD v4
16g.2496323A>TCA394374834TBC1D24c.175A>T (p.Ile59Phe)
n.357A>T
16g.2496324T>ACA394374839TBC1D24c.176T>A (p.Ile59Asn)
n.358T>A
16g.2496324T>CCA394374841TBC1D24c.176T>C (p.Ile59Thr)
n.358T>C
gnomAD v4
16g.2496324T>GCA394374843TBC1D24c.176T>G (p.Ile59Ser)
n.358T>G
16g.2496325C>ACA276809609TBC1D24c.177C>A (p.Ile59=)
n.359C>A
dbSNP gnomAD v3 gnomAD v4
16g.2496325C=CA2202259736TBC1D24c.177C= (p.Ile59=)
n.359C=
16g.2496325C>GCA394374845TBC1D24c.177C>G (p.Ile59Met)
n.359C>G
ClinVar
16g.2496325C>TCA493366569TBC1D24c.177C>T (p.Ile59=)
n.359C>T
gnomAD v4
16g.2496326C>ACA493366570TBC1D24c.178C>A (p.Arg60=)
n.360C>A
16g.2496326C=CA2202259737TBC1D24c.178C= (p.Arg60=)
n.360C=
16g.2496326C>GCA394374846TBC1D24c.178C>G (p.Arg60Gly)
n.360C>G
16g.2496326C>TCA319072TBC1D24c.178C>T (p.Arg60Trp)
n.360C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496327G>ACA319074TBC1D24c.179G>A (p.Arg60Gln)
n.361G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496327G>CCA7843942TBC1D24c.179G>C (p.Arg60Pro)
n.361G>C
ClinVar dbSNP ExAC
16g.2496327G=CA2202259738TBC1D24c.179G= (p.Arg60=)
n.361G=
16g.2496327G>TCA394374852TBC1D24c.179G>T (p.Arg60Leu)
n.361G>T
16g.2496328G>ACA493366571TBC1D24c.180G>A (p.Arg60=)
n.362G>A
gnomAD v4
16g.2496328G>CCA493366572TBC1D24c.180G>C (p.Arg60=)
n.362G>C
16g.2496328G>TCA493366573TBC1D24c.180G>T (p.Arg60=)
n.362G>T
16g.2496329G>ACA394374854TBC1D24c.181G>A (p.Asp61Asn)
n.363G>A
gnomAD v4
16g.2496329G>CCA394374856TBC1D24c.181G>C (p.Asp61His)
n.363G>C
16g.2496329G>TCA394374858TBC1D24c.181G>T (p.Asp61Tyr)
n.363G>T
ClinVar
16g.2496330A=CA2202259739TBC1D24c.182A= (p.Asp61=)
n.364A=
16g.2496330A>CCA394374863TBC1D24c.182A>C (p.Asp61Ala)
n.364A>C
16g.2496330A>GCA394374865TBC1D24c.182A>G (p.Asp61Gly)
n.364A>G
16g.2496330A>TCA394374861TBC1D24c.182A>T (p.Asp61Val)
n.364A>T
dbSNP gnomAD v2 gnomAD v4
16g.2496331C>ACA394374867TBC1D24c.183C>A (p.Asp61Glu)
n.365C>A
gnomAD v4
16g.2496331C=CA2202259740TBC1D24c.183C= (p.Asp61=)
n.365C=
16g.2496331C>GCA394374870TBC1D24c.183C>G (p.Asp61Glu)
n.365C>G
16g.2496331C>TCA7843943TBC1D24c.183C>T (p.Asp61=)
n.365C>T
dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496332A=CA2202259741TBC1D24c.184A= (p.Ile62=)
n.366A=
16g.2496332A>CCA394374872TBC1D24c.184A>C (p.Ile62Leu)
n.366A>C
16g.2496332A>GCA7843944TBC1D24c.184A>G (p.Ile62Val)
n.366A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496332A>TCA394374877TBC1D24c.184A>T (p.Ile62Phe)
n.366A>T
dbSNP
16g.2496333T>ACA394374881TBC1D24c.185T>A (p.Ile62Asn)
n.367T>A
16g.2496333T>CCA394374883TBC1D24c.185T>C (p.Ile62Thr)
n.367T>C
16g.2496333T>GCA394374886TBC1D24c.185T>G (p.Ile62Ser)
n.367T>G
16g.2496334T>ACA276809610TBC1D24c.186T>A (p.Ile62=)
n.368T>A
dbSNP gnomAD v4
16g.2496334T>CCA493366574TBC1D24c.186T>C (p.Ile62=)
n.368T>C
dbSNP
16g.2496334T>GCA394374890TBC1D24c.186T>G (p.Ile62Met)
n.368T>G
16g.2496334T=CA2202259742TBC1D24c.186T= (p.Ile62=)
n.368T=
16g.2496335C>ACA394374894TBC1D24c.187C>A (p.Pro63Thr)
n.369C>A
16g.2496335C=CA2202259743TBC1D24c.187C= (p.Pro63=)
n.369C=
16g.2496335C>GCA394374897TBC1D24c.187C>G (p.Pro63Ala)
n.369C>G
16g.2496335C>TCA276809612TBC1D24c.187C>T (p.Pro63Ser)
n.369C>T
ClinVar dbSNP
16g.2496337dupCA276809611TBC1D24c.189dup (p.Cys64LeufsTer7)
n.371dup
dbSNP
16g.2496336C>ACA394374902TBC1D24c.188C>A (p.Pro63His)
n.370C>A
16g.2496336C=CA2202259744TBC1D24c.188C= (p.Pro63=)
n.370C=
16g.2496336C>GCA394374904TBC1D24c.188C>G (p.Pro63Arg)
n.370C>G
dbSNP
16g.2496336C>TCA394374906TBC1D24c.188C>T (p.Pro63Leu)
n.370C>T
gnomAD v4
16g.2496337C>ACA493366575TBC1D24c.189C>A (p.Pro63=)
n.371C>A
16g.2496337C=CA2202259745TBC1D24c.189C= (p.Pro63=)
n.371C=
16g.2496337C>GCA493366576TBC1D24c.189C>G (p.Pro63=)
n.371C>G
16g.2496337C>TCA7843945TBC1D24c.189C>T (p.Pro63=)
n.371C>T
dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496338T>ACA394374910TBC1D24c.190T>A (p.Cys64Ser)
n.372T>A
16g.2496338T>CCA394374912TBC1D24c.190T>C (p.Cys64Arg)
n.372T>C
16g.2496338T>GCA394374914TBC1D24c.190T>G (p.Cys64Gly)
n.372T>G
16g.2496339G>ACA394374916TBC1D24c.191G>A (p.Cys64Tyr)
n.373G>A
16g.2496339G>CCA394374917TBC1D24c.191G>C (p.Cys64Ser)
n.373G>C
16g.2496339G>TCA394374918TBC1D24c.191G>T (p.Cys64Phe)
n.373G>T
16g.2496340C>ACA16620168TBC1D24c.192C>A (p.Cys64Ter)
n.374C>A
ClinVar dbSNP gnomAD v4
16g.2496340C=CA2202259746TBC1D24c.192C= (p.Cys64=)
n.374C=
16g.2496340C>GCA394374921TBC1D24c.192C>G (p.Cys64Trp)
n.374C>G
16g.2496340C>TCA10583389TBC1D24c.192C>T (p.Cys64=)
n.374C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2496341C>ACA394374924TBC1D24c.193C>A (p.Arg65Ser)
n.375C>A
16g.2496341C=CA2202259747TBC1D24c.193C= (p.Arg65=)
n.375C=
16g.2496341C>GCA394374926TBC1D24c.193C>G (p.Arg65Gly)
n.375C>G
16g.2496341C>TCA7843946TBC1D24c.193C>T (p.Arg65Cys)
n.375C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496342G>ACA394374933TBC1D24c.194G>A (p.Arg65His)
n.376G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496342G>CCA394374931TBC1D24c.194G>C (p.Arg65Pro)
n.376G>C
16g.2496342G=CA2202259748TBC1D24c.194G= (p.Arg65=)
n.376G=
16g.2496342G>TCA10581511TBC1D24c.194G>T (p.Arg65Leu)
n.376G>T
ClinVar dbSNP
16g.2496343C>ACA493366577TBC1D24c.195C>A (p.Arg65=)
n.377C>A
16g.2496343C>GCA493366578TBC1D24c.195C>G (p.Arg65=)
n.377C>G
16g.2496343C>TCA493366579TBC1D24c.195C>T (p.Arg65=)
n.377C>T
16g.2496344A>CCA394374939TBC1D24c.196A>C (p.Thr66Pro)
n.378A>C
16g.2496344A>GCA394374935TBC1D24c.196A>G (p.Thr66Ala)
n.378A>G
16g.2496344A>TCA394374937TBC1D24c.196A>T (p.Thr66Ser)
n.378A>T
16g.2496345C>ACA394374942TBC1D24c.197C>A (p.Thr66Lys)
n.379C>A
16g.2496345C=CA2202259749TBC1D24c.197C= (p.Thr66=)
n.379C=
16g.2496345C>GCA394374944TBC1D24c.197C>G (p.Thr66Arg)
n.379C>G
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496345C>TCA7843947TBC1D24c.197C>T (p.Thr66Met)
n.379C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched