Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
16g.2496346G>ACA7843948TBC1D24c.198G>A (p.Thr66=)
n.380G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496346G>CCA493366580TBC1D24c.198G>C (p.Thr66=)
n.380G>C
16g.2496346G=CA2202259750TBC1D24c.198G= (p.Thr66=)
n.380G=
16g.2496346G>TCA493366581TBC1D24c.198G>T (p.Thr66=)
n.380G>T
16g.2496347G>ACA394374949TBC1D24c.199G>A (p.Val67Ile)
n.381G>A
16g.2496347G>CCA7843949TBC1D24c.199G>C (p.Val67Leu)
n.381G>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496347G=CA2202259751TBC1D24c.199G= (p.Val67=)
n.381G=
16g.2496347G>TCA394374951TBC1D24c.199G>T (p.Val67Phe)
n.381G>T
16g.2496348T>ACA394374954TBC1D24c.200T>A (p.Val67Asp)
n.382T>A
16g.2496348T>CCA394374956TBC1D24c.200T>C (p.Val67Ala)
n.382T>C
16g.2496348T>GCA394374958TBC1D24c.200T>G (p.Val67Gly)
n.382T>G
16g.2496349C>ACA493366583TBC1D24c.201C>A (p.Val67=)
n.383C>A
16g.2496349C>GCA493366584TBC1D24c.201C>G (p.Val67=)
n.383C>G
16g.2496349C>TCA493366582TBC1D24c.201C>T (p.Val67=)
n.383C>T
16g.2496350A>CCA394374961TBC1D24c.202A>C (p.Thr68Pro)
n.384A>C
16g.2496350A>GCA394374963TBC1D24c.202A>G (p.Thr68Ala)
n.384A>G
16g.2496350A>TCA394374960TBC1D24c.202A>T (p.Thr68Ser)
n.384A>T
16g.2496351C>ACA394374965TBC1D24c.203C>A (p.Thr68Lys)
n.385C>A
16g.2496351C=CA2202259752TBC1D24c.203C= (p.Thr68=)
n.385C=
16g.2496351C>GCA394374967TBC1D24c.203C>G (p.Thr68Arg)
n.385C>G
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496351C>TCA276809613TBC1D24c.203C>T (p.Thr68Met)
n.385C>T
dbSNP gnomAD v4 COSMIC
16g.2496352G>ACA293860TBC1D24c.204G>A (p.Thr68=)
n.386G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496352G>CCA493366585TBC1D24c.204G>C (p.Thr68=)
n.386G>C
16g.2496352G=CA2202259753TBC1D24c.204G= (p.Thr68=)
n.386G=
16g.2496352G>TCA493366586TBC1D24c.204G>T (p.Thr68=)
n.386G>T
16g.2496353C>ACA394374974TBC1D24c.205C>A (p.Pro69Thr)
n.387C>A
16g.2496353C>GCA394374973TBC1D24c.205C>G (p.Pro69Ala)
n.387C>G
16g.2496353C>TCA394374970TBC1D24c.205C>T (p.Pro69Ser)
n.387C>T
16g.2496354C>ACA394374977TBC1D24c.206C>A (p.Pro69His)
n.388C>A
16g.2496354C=CA2202259754TBC1D24c.206C= (p.Pro69=)
n.388C=
16g.2496354C>GCA394374979TBC1D24c.206C>G (p.Pro69Arg)
n.388C>G
dbSNP gnomAD v3 gnomAD v4
16g.2496354C>TCA394374981TBC1D24c.206C>T (p.Pro69Leu)
n.388C>T
16g.2496355T>ACA493366587TBC1D24c.207T>A (p.Pro69=)
n.389T>A
16g.2496355T>CCA289066TBC1D24c.207T>C (p.Pro69=)
n.389T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496355T>GCA493366588TBC1D24c.207T>G (p.Pro69=)
n.389T>G
16g.2496355T=CA2202259755TBC1D24c.207T= (p.Pro69=)
n.389T=
16g.2496356G>ACA394374983TBC1D24c.208G>A (p.Asp70Asn)
n.390G>A
16g.2496356G>CCA394374985TBC1D24c.208G>C (p.Asp70His)
n.390G>C
COSMIC
16g.2496356G=CA2202259756TBC1D24c.208G= (p.Asp70=)
n.390G=
16g.2496356G>TCA345451TBC1D24c.208G>T (p.Asp70Tyr)
n.390G>T
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2496357A>CCA394374991TBC1D24c.209A>C (p.Asp70Ala)
n.391A>C
gnomAD v4
16g.2496357A>GCA394374993TBC1D24c.209A>G (p.Asp70Gly)
n.391A>G
16g.2496357A>TCA394374989TBC1D24c.209A>T (p.Asp70Val)
n.391A>T
16g.2496358C>ACA394374994TBC1D24c.210C>A (p.Asp70Glu)
n.392C>A
ClinVar dbSNP gnomAD v4
16g.2496358C=CA2202259757TBC1D24c.210C= (p.Asp70=)
n.392C=
16g.2496358C>GCA394374997TBC1D24c.210C>G (p.Asp70Glu)
n.392C>G
16g.2496358C>TCA7843950TBC1D24c.210C>T (p.Asp70=)
n.392C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496359G>ACA7843951TBC1D24c.211G>A (p.Ala71Thr)
n.393G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496359G>CCA394375000TBC1D24c.211G>C (p.Ala71Pro)
n.393G>C
16g.2496359G=CA2202259758TBC1D24c.211G= (p.Ala71=)
n.393G=
16g.2496359G>TCA394375001TBC1D24c.211G>T (p.Ala71Ser)
n.393G>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496360C>ACA394375003TBC1D24c.212C>A (p.Ala71Asp)
n.394C>A
16g.2496360C>GCA394375005TBC1D24c.212C>G (p.Ala71Gly)
n.394C>G
16g.2496360C>TCA394375007TBC1D24c.212C>T (p.Ala71Val)
n.394C>T
16g.2496361C>ACA493366589TBC1D24c.213C>A (p.Ala71=)
n.395C>A
16g.2496361C=CA2202259759TBC1D24c.213C= (p.Ala71=)
n.395C=
16g.2496361C>GCA493366590TBC1D24c.213C>G (p.Ala71=)
n.395C>G
16g.2496361C>TCA7843952TBC1D24c.213C>T (p.Ala71=)
n.395C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496362A>CCA394375011TBC1D24c.214A>C (p.Ser72Arg)
n.396A>C
16g.2496362A>GCA394375013TBC1D24c.214A>G (p.Ser72Gly)
n.396A>G
16g.2496362A>TCA394375015TBC1D24c.214A>T (p.Ser72Cys)
n.396A>T
16g.2496363G>ACA394375020TBC1D24c.215G>A (p.Ser72Asn)
n.397G>A
ClinVar dbSNP
16g.2496363G>CCA394375019TBC1D24c.215G>C (p.Ser72Thr)
n.397G>C
16g.2496363G>TCA394375017TBC1D24c.215G>T (p.Ser72Ile)
n.397G>T
16g.2496364C>ACA394375022TBC1D24c.216C>A (p.Ser72Arg)
n.398C>A
16g.2496364C=CA2202259760TBC1D24c.216C= (p.Ser72=)
n.398C=
16g.2496364C>GCA394375024TBC1D24c.216C>G (p.Ser72Arg)
n.398C>G
dbSNP gnomAD v2 gnomAD v4
16g.2496364C>TCA7843953TBC1D24c.216C>T (p.Ser72=)
n.398C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496365G>ACA7843954TBC1D24c.217G>A (p.Val73Met)
n.399G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496365G>CCA394375027TBC1D24c.217G>C (p.Val73Leu)
n.399G>C
16g.2496365G=CA2202259761TBC1D24c.217G= (p.Val73=)
n.399G=
16g.2496365G>TCA394375029TBC1D24c.217G>T (p.Val73Leu)
n.399G>T
dbSNP gnomAD v4
16g.2496366T>ACA394375033TBC1D24c.218T>A (p.Val73Glu)
n.400T>A
16g.2496366T>CCA394375035TBC1D24c.218T>C (p.Val73Ala)
n.400T>C
16g.2496366T>GCA394375037TBC1D24c.218T>G (p.Val73Gly)
n.400T>G
16g.2496367G>ACA493366591TBC1D24c.219G>A (p.Val73=)
n.401G>A
16g.2496367G>CCA493366592TBC1D24c.219G>C (p.Val73=)
n.401G>C
16g.2496367G>TCA493366593TBC1D24c.219G>T (p.Val73=)
n.401G>T
gnomAD v4
16g.2496368T>ACA394375039TBC1D24c.220T>A (p.Tyr74Asn)
n.402T>A
16g.2496368T>CCA394375040TBC1D24c.220T>C (p.Tyr74His)
n.402T>C
16g.2496368T>GCA394375042TBC1D24c.220T>G (p.Tyr74Asp)
n.402T>G
16g.2496369A=CA2202259762TBC1D24c.221A= (p.Tyr74=)
n.403A=
16g.2496369A>CCA394375047TBC1D24c.221A>C (p.Tyr74Ser)
n.403A>C
16g.2496369A>GCA7843955TBC1D24c.221A>G (p.Tyr74Cys)
n.403A>G
dbSNP ExAC gnomAD v2
16g.2496369A>TCA394375045TBC1D24c.221A>T (p.Tyr74Phe)
n.403A>T
16g.2496370C>ACA394375050TBC1D24c.222C>A (p.Tyr74Ter)
n.404C>A
dbSNP
16g.2496370C>GCA394375052TBC1D24c.222C>G (p.Tyr74Ter)
n.404C>G
16g.2496370C>TCA493366594TBC1D24c.222C>T (p.Tyr74=)
n.404C>T
16g.2496371A=CA2202259763TBC1D24c.223A= (p.Ser75=)
n.405A=
16g.2496371A>CCA394375055TBC1D24c.223A>C (p.Ser75Arg)
n.405A>C
16g.2496371A>GCA394375057TBC1D24c.223A>G (p.Ser75Gly)
n.405A>G
dbSNP
16g.2496371A>TCA394375059TBC1D24c.223A>T (p.Ser75Cys)
n.405A>T
16g.2496372G>ACA394375066TBC1D24c.224G>A (p.Ser75Asn)
n.406G>A
16g.2496372G>CCA394375064TBC1D24c.224G>C (p.Ser75Thr)
n.406G>C
16g.2496372G>TCA394375062TBC1D24c.224G>T (p.Ser75Ile)
n.406G>T
16g.2496373C>ACA394375068TBC1D24c.225C>A (p.Ser75Arg)
n.407C>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496373C=CA2202259764TBC1D24c.225C= (p.Ser75=)
n.407C=
16g.2496373C>GCA394375070TBC1D24c.225C>G (p.Ser75Arg)
n.407C>G
16g.2496373C>TCA7843956TBC1D24c.225C>T (p.Ser75=)
n.407C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496374G>ACA276809614TBC1D24c.226G>A (p.Asp76Asn)
n.408G>A
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2496374G>CCA394375073TBC1D24c.226G>C (p.Asp76His)
n.408G>C
16g.2496374G=CA2202259765TBC1D24c.226G= (p.Asp76=)
n.408G=
16g.2496374G>TCA394375075TBC1D24c.226G>T (p.Asp76Tyr)
n.408G>T

Number of alleles fetched