Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.2496452C>ACA394375429TBC1D24c.304C>A (p.Pro102Thr)
n.486C>A
16g.2496452C=CA2202259802TBC1D24c.304C= (p.Pro102=)
n.486C=
16g.2496452C>GCA7843969TBC1D24c.304C>G (p.Pro102Ala)
n.486C>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496452C>TCA394375432TBC1D24c.304C>T (p.Pro102Ser)
n.486C>T
gnomAD v4
16g.2496453C>ACA394375434TBC1D24c.305C>A (p.Pro102His)
n.487C>A
16g.2496453C>GCA394375436TBC1D24c.305C>G (p.Pro102Arg)
n.487C>G
16g.2496453C>TCA394375438TBC1D24c.305C>T (p.Pro102Leu)
n.487C>T
gnomAD v4
16g.2496454C>ACA493366686TBC1D24c.306C>A (p.Pro102=)
n.488C>A
16g.2496454C>GCA493366687TBC1D24c.306C>G (p.Pro102=)
n.488C>G
16g.2496454C>TCA493366685TBC1D24c.306C>T (p.Pro102=)
n.488C>T
gnomAD v4
16g.2496455A>CCA394375444TBC1D24c.307A>C (p.Ser103Arg)
n.489A>C
16g.2496455A>GCA394375441TBC1D24c.307A>G (p.Ser103Gly)
n.489A>G
dbSNP
16g.2496455A>TCA394375443TBC1D24c.307A>T (p.Ser103Cys)
n.489A>T
16g.2496456G>ACA7843970TBC1D24c.308G>A (p.Ser103Asn)
n.490G>A
dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496456G>CCA394375448TBC1D24c.308G>C (p.Ser103Thr)
n.490G>C
16g.2496456G=CA2202259803TBC1D24c.308G= (p.Ser103=)
n.490G=
16g.2496456G>TCA394375450TBC1D24c.308G>T (p.Ser103Ile)
n.490G>T
16g.2496457C>ACA394375452TBC1D24c.309C>A (p.Ser103Arg)
n.491C>A
16g.2496457C>GCA394375454TBC1D24c.309C>G (p.Ser103Arg)
n.491C>G
16g.2496457C>TCA493366691TBC1D24c.309C>T (p.Ser103=)
n.491C>T
16g.2496457dupCA2740096856TBC1D24c.309dup (p.Tyr104LeufsTer?)
n.491dup
ClinVar
16g.2496458T>ACA394375456TBC1D24c.310T>A (p.Tyr104Asn)
n.492T>A
16g.2496458T>CCA394375458TBC1D24c.310T>C (p.Tyr104His)
n.492T>C
16g.2496458T>GCA394375460TBC1D24c.310T>G (p.Tyr104Asp)
n.492T>G
16g.2496459A=CA2202259804TBC1D24c.311A= (p.Tyr104=)
n.493A=
16g.2496459A>CCA394375462TBC1D24c.311A>C (p.Tyr104Ser)
n.493A>C
16g.2496459A>GCA394375464TBC1D24c.311A>G (p.Tyr104Cys)
n.493A>G
dbSNP gnomAD v2 gnomAD v4
16g.2496459A>TCA394375466TBC1D24c.311A>T (p.Tyr104Phe)
n.493A>T
16g.2496460C>ACA394375472TBC1D24c.312C>A (p.Tyr104Ter)
n.494C>A
16g.2496460C=CA2202259805TBC1D24c.312C= (p.Tyr104=)
n.494C=
16g.2496460C>GCA394375469TBC1D24c.312C>G (p.Tyr104Ter)
n.494C>G
16g.2496460C>TCA7843971TBC1D24c.312C>T (p.Tyr104=)
n.494C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496461T>ACA394375475TBC1D24c.313T>A (p.Cys105Ser)
n.495T>A
16g.2496461T>CCA347138TBC1D24c.313T>C (p.Cys105Arg)
n.495T>C
ClinVar dbSNP
16g.2496461T>GCA394375476TBC1D24c.313T>G (p.Cys105Gly)
n.495T>G
16g.2496461T=CA2202259806TBC1D24c.313T= (p.Cys105=)
n.495T=
16g.2496462G>ACA394375478TBC1D24c.314G>A (p.Cys105Tyr)
n.496G>A
gnomAD v4
16g.2496462G>CCA394375480TBC1D24c.314G>C (p.Cys105Ser)
n.496G>C
16g.2496462G>TCA394375481TBC1D24c.314G>T (p.Cys105Phe)
n.496G>T
16g.2496463C>ACA394375482TBC1D24c.315C>A (p.Cys105Ter)
n.497C>A
16g.2496463C>GCA394375484TBC1D24c.315C>G (p.Cys105Trp)
n.497C>G
16g.2496463C>TCA493366693TBC1D24c.315C>T (p.Cys105=)
n.497C>T
16g.2496464C>ACA394375485TBC1D24c.316C>A (p.Leu106Met)
n.498C>A
16g.2496464C>GCA394375488TBC1D24c.316C>G (p.Leu106Val)
n.498C>G
16g.2496464C>TCA493366695TBC1D24c.316C>T (p.Leu106=)
n.498C>T
gnomAD v4
16g.2496465T>ACA394375490TBC1D24c.317T>A (p.Leu106Gln)
n.499T>A
ClinVar
16g.2496465T>CCA394375492TBC1D24c.317T>C (p.Leu106Pro)
n.499T>C
gnomAD v4
16g.2496465T>GCA394375494TBC1D24c.317T>G (p.Leu106Arg)
n.499T>G
16g.2496466G>ACA493366696TBC1D24c.318G>A (p.Leu106=)
n.500G>A
16g.2496466G>CCA493366698TBC1D24c.318G>C (p.Leu106=)
n.500G>C
16g.2496466G>TCA493366697TBC1D24c.318G>T (p.Leu106=)
n.500G>T
gnomAD v4
16g.2496467A>CCA394375500TBC1D24c.319A>C (p.Asn107His)
n.501A>C
16g.2496467A>GCA394375498TBC1D24c.319A>G (p.Asn107Asp)
n.501A>G
16g.2496467A>TCA394375496TBC1D24c.319A>T (p.Asn107Tyr)
n.501A>T
16g.2496468A>CCA394375502TBC1D24c.320A>C (p.Asn107Thr)
n.502A>C
16g.2496468A>GCA394375504TBC1D24c.320A>G (p.Asn107Ser)
n.502A>G
16g.2496468A>TCA394375505TBC1D24c.320A>T (p.Asn107Ile)
n.502A>T
16g.2496469T>ACA16608138TBC1D24c.321T>A (p.Asn107Lys)
n.503T>A
ClinVar dbSNP gnomAD v4
16g.2496469T>CCA493366700TBC1D24c.321T>C (p.Asn107=)
n.503T>C
ClinVar
16g.2496469T>GCA394375506TBC1D24c.321T>G (p.Asn107Lys)
n.503T>G
16g.2496469T=CA2202259807TBC1D24c.321T= (p.Asn107=)
n.503T=
16g.2496470G>ACA394375508TBC1D24c.322G>A (p.Ala108Thr)
n.504G>A
16g.2496470G>CCA394375511TBC1D24c.322G>C (p.Ala108Pro)
n.504G>C
16g.2496470G>TCA394375513TBC1D24c.322G>T (p.Ala108Ser)
n.504G>T
16g.2496471C>ACA394375515TBC1D24c.323C>A (p.Ala108Glu)
n.505C>A
16g.2496471C>GCA394375517TBC1D24c.323C>G (p.Ala108Gly)
n.505C>G
16g.2496471C>TCA394375519TBC1D24c.323C>T (p.Ala108Val)
n.505C>T
dbSNP gnomAD v3 gnomAD v4
16g.2496472A>CCA493366701TBC1D24c.324A>C (p.Ala108=)
n.506A>C
gnomAD v4
16g.2496472A>GCA493366703TBC1D24c.324A>G (p.Ala108=)
n.506A>G
16g.2496472A>TCA493366704TBC1D24c.324A>T (p.Ala108=)
n.506A>T
16g.2496473C>ACA394375522TBC1D24c.325C>A (p.Arg109Ser)
n.507C>A
ClinVar
16g.2496473C=CA2202259808TBC1D24c.325C= (p.Arg109=)
n.507C=
16g.2496473C>GCA7843972TBC1D24c.325C>G (p.Arg109Gly)
n.507C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496473C>TCA7843973TBC1D24c.325C>T (p.Arg109Cys)
n.507C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.2496474G>ACA7843974TBC1D24c.326G>A (p.Arg109His)
n.508G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496474G>CCA394375529TBC1D24c.326G>C (p.Arg109Pro)
n.508G>C
16g.2496474G=CA2202259809TBC1D24c.326G= (p.Arg109=)
n.508G=
16g.2496474G>TCA394375525TBC1D24c.326G>T (p.Arg109Leu)
n.508G>T
dbSNP gnomAD v2 gnomAD v4
16g.2496475C>ACA7843975TBC1D24c.327C>A (p.Arg109=)
n.509C>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496475C=CA2202259810TBC1D24c.327C= (p.Arg109=)
n.509C=
16g.2496475C>GCA493366705TBC1D24c.327C>G (p.Arg109=)
n.509C>G
gnomAD v4
16g.2496475C>TCA7843976TBC1D24c.327C>T (p.Arg109=)
n.509C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496476G>ACA347140TBC1D24c.328G>A (p.Gly110Ser)
n.510G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496476G>CCA394375534TBC1D24c.328G>C (p.Gly110Arg)
n.510G>C
16g.2496476G=CA2202259811TBC1D24c.328G= (p.Gly110=)
n.510G=
16g.2496476G>TCA394375536TBC1D24c.328G>T (p.Gly110Cys)
n.510G>T
16g.2496477G>ACA394375538TBC1D24c.329G>A (p.Gly110Asp)
n.511G>A
16g.2496477G>CCA394375539TBC1D24c.329G>C (p.Gly110Ala)
n.511G>C
16g.2496477G>TCA394375541TBC1D24c.329G>T (p.Gly110Val)
n.511G>T
16g.2496478C>ACA493366706TBC1D24c.330C>A (p.Gly110=)
n.512C>A
gnomAD v4
16g.2496478C=CA2202259812TBC1D24c.330C= (p.Gly110=)
n.512C=
16g.2496478C>GCA493366707TBC1D24c.330C>G (p.Gly110=)
n.512C>G
16g.2496478C>TCA7843977TBC1D24c.330C>T (p.Gly110=)
n.512C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496479G>ACA7843978TBC1D24c.331G>A (p.Glu111Lys)
n.513G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496479G>CCA394375544TBC1D24c.331G>C (p.Glu111Gln)
n.513G>C
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496479G=CA2202259813TBC1D24c.331G= (p.Glu111=)
n.513G=
16g.2496479G>TCA394375546TBC1D24c.331G>T (p.Glu111Ter)
n.513G>T
gnomAD v4
16g.2496480A>CCA394375553TBC1D24c.332A>C (p.Glu111Ala)
n.514A>C
16g.2496480A>GCA394375551TBC1D24c.332A>G (p.Glu111Gly)
n.514A>G
16g.2496480A>TCA394375549TBC1D24c.332A>T (p.Glu111Val)
n.514A>T
16g.2496481G>ACA7843979TBC1D24c.333G>A (p.Glu111=)
n.515G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496481G>CCA394375555TBC1D24c.333G>C (p.Glu111Asp)
n.515G>C
16g.2496481G=CA2202259814TBC1D24c.333G= (p.Glu111=)
n.515G=
16g.2496481G>TCA394375558TBC1D24c.333G>T (p.Glu111Asp)
n.515G>T
ClinVar
16g.2496485dupCA2740096857TBC1D24c.337dup (p.Ala113GlyfsTer?)
n.519dup
ClinVar
16g.2496485delCA2631209600TBC1D24c.337del (p.Ala113ProfsTer?)
n.519del
gnomAD v4
16g.2496482G>ACA394375560TBC1D24c.334G>A (p.Gly112Arg)
n.516G>A
16g.2496482G>CCA394375562TBC1D24c.334G>C (p.Gly112Arg)
n.516G>C
gnomAD v4 COSMIC
16g.2496482G>TCA394375564TBC1D24c.334G>T (p.Gly112Trp)
n.516G>T
gnomAD v4
16g.2496483G>ACA394375566TBC1D24c.335G>A (p.Gly112Glu)
n.517G>A
ClinVar gnomAD v4
16g.2496483G>CCA394375568TBC1D24c.335G>C (p.Gly112Ala)
n.517G>C
16g.2496483G>TCA394375570TBC1D24c.335G>T (p.Gly112Val)
n.517G>T
gnomAD v4
16g.2496484G>ACA493366709TBC1D24c.336G>A (p.Gly112=)
n.518G>A
dbSNP gnomAD v2 gnomAD v4
16g.2496484G>CCA493366710TBC1D24c.336G>C (p.Gly112=)
n.518G>C
16g.2496484G=CA2202259815TBC1D24c.336G= (p.Gly112=)
n.518G=
16g.2496484G>TCA493366712TBC1D24c.336G>T (p.Gly112=)
n.518G>T
16g.2496485G>ACA394375573TBC1D24c.337G>A (p.Ala113Thr)
n.519G>A
dbSNP gnomAD v2
16g.2496485G>CCA394375575TBC1D24c.337G>C (p.Ala113Pro)
n.519G>C
gnomAD v4
16g.2496485G=CA2202259816TBC1D24c.337G= (p.Ala113=)
n.519G=
16g.2496485G>TCA394375577TBC1D24c.337G>T (p.Ala113Ser)
n.519G>T
16g.2496486C>ACA053198TBC1D24c.338C>A (p.Ala113Asp)
n.520C>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496486C=CA2202259817TBC1D24c.338C= (p.Ala113=)
n.520C=
16g.2496486C>GCA394375582TBC1D24c.338C>G (p.Ala113Gly)
n.520C>G
16g.2496486C>TCA394375580TBC1D24c.338C>T (p.Ala113Val)
n.520C>T
gnomAD v4
16g.2496487C>ACA493366713TBC1D24c.339C>A (p.Ala113=)
n.521C>A
ClinVar
16g.2496487C=CA2202259818TBC1D24c.339C= (p.Ala113=)
n.521C=
16g.2496487C>GCA493366714TBC1D24c.339C>G (p.Ala113=)
n.521C>G
16g.2496487C>TCA493366715TBC1D24c.339C>T (p.Ala113=)
n.521C>T
dbSNP gnomAD v2 gnomAD v4
16g.2496488G>ACA319013TBC1D24c.340G>A (p.Val114Met)
n.522G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.2496488G>CCA394375586TBC1D24c.340G>C (p.Val114Leu)
n.522G>C
16g.2496488G=CA2202259819TBC1D24c.340G= (p.Val114=)
n.522G=
16g.2496488G>TCA394375583TBC1D24c.340G>T (p.Val114Leu)
n.522G>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496489T>ACA394375589TBC1D24c.341T>A (p.Val114Glu)
n.523T>A
16g.2496489T>CCA394375592TBC1D24c.341T>C (p.Val114Ala)
n.523T>C
16g.2496489T>GCA394375591TBC1D24c.341T>G (p.Val114Gly)
n.523T>G
dbSNP
16g.2496489T=CA2202259820TBC1D24c.341T= (p.Val114=)
n.523T=
16g.2496490G>ACA493366717TBC1D24c.342G>A (p.Val114=)
n.524G>A
dbSNP
16g.2496490G>CCA493366718TBC1D24c.342G>C (p.Val114=)
n.524G>C
dbSNP gnomAD v2 gnomAD v4
16g.2496490G=CA2202259821TBC1D24c.342G= (p.Val114=)
n.524G=
16g.2496490G>TCA493366719TBC1D24c.342G>T (p.Val114=)
n.524G>T
gnomAD v4
16g.2496491C>ACA394375594TBC1D24c.343C>A (p.Arg115Ser)
n.525C>A
16g.2496491C=CA2202259822TBC1D24c.343C= (p.Arg115=)
n.525C=
16g.2496491C>GCA394375598TBC1D24c.343C>G (p.Arg115Gly)
n.525C>G
dbSNP gnomAD v4
16g.2496491C>TCA319015TBC1D24c.343C>T (p.Arg115Cys)
n.525C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496492G>ACA319018TBC1D24c.344G>A (p.Arg115His)
n.526G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496492G>CCA394375603TBC1D24c.344G>C (p.Arg115Pro)
n.526G>C
16g.2496492G=CA2202259823TBC1D24c.344G= (p.Arg115=)
n.526G=
16g.2496492G>TCA7843980TBC1D24c.344G>T (p.Arg115Leu)
n.526G>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496493C>ACA493366721TBC1D24c.345C>A (p.Arg115=)
n.527C>A
dbSNP gnomAD v2 gnomAD v4
16g.2496493C=CA2202259824TBC1D24c.345C= (p.Arg115=)
n.527C=
16g.2496493C>GCA493366722TBC1D24c.345C>G (p.Arg115=)
n.527C>G
16g.2496493C>TCA493366723TBC1D24c.345C>T (p.Arg115=)
n.527C>T
16g.2496494A=CA2202259825TBC1D24c.346A= (p.Lys116=)
n.528A=
16g.2496494A>CCA394375606TBC1D24c.346A>C (p.Lys116Gln)
n.528A>C
16g.2496494A>GCA394375608TBC1D24c.346A>G (p.Lys116Glu)
n.528A>G
16g.2496494A>TCA394375609TBC1D24c.346A>T (p.Lys116Ter)
n.528A>T
ClinVar dbSNP
16g.2496495A=CA2202259826TBC1D24c.347A= (p.Lys116=)
n.529A=
16g.2496495A>CCA394375610TBC1D24c.347A>C (p.Lys116Thr)
n.529A>C
16g.2496495A>GCA276809621TBC1D24c.347A>G (p.Lys116Arg)
n.529A>G
dbSNP gnomAD v4
16g.2496495A>TCA394375612TBC1D24c.347A>T (p.Lys116Met)
n.529A>T
16g.2496496G>ACA7843981TBC1D24c.348G>A (p.Lys116=)
n.530G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496496G>CCA394375614TBC1D24c.348G>C (p.Lys116Asn)
n.530G>C
16g.2496496G=CA2202259827TBC1D24c.348G= (p.Lys116=)
n.530G=
16g.2496496G>TCA394375615TBC1D24c.348G>T (p.Lys116Asn)
n.530G>T
ClinVar gnomAD v4
16g.2496497A>CCA394375616TBC1D24c.349A>C (p.Ile117Leu)
n.531A>C
16g.2496497A>GCA394375618TBC1D24c.349A>G (p.Ile117Val)
n.531A>G
16g.2496497A>TCA394375620TBC1D24c.349A>T (p.Ile117Phe)
n.531A>T
16g.2496498T>ACA394375626TBC1D24c.350T>A (p.Ile117Asn)
n.532T>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496498T>CCA394375624TBC1D24c.350T>C (p.Ile117Thr)
n.532T>C
16g.2496498T>GCA394375622TBC1D24c.350T>G (p.Ile117Ser)
n.532T>G
16g.2496498T=CA2202259828TBC1D24c.350T= (p.Ile117=)
n.532T=
16g.2496499C>ACA493366725TBC1D24c.351C>A (p.Ile117=)
n.533C>A
16g.2496499C>GCA394375627TBC1D24c.351C>G (p.Ile117Met)
n.533C>G
16g.2496499C>TCA493366726TBC1D24c.351C>T (p.Ile117=)
n.533C>T
COSMIC
16g.2496500delCA2580091023TBC1D24c.352del (p.Leu118SerfsTer?)
n.534del
ClinVar gnomAD v4
16g.2496500C>ACA394375628TBC1D24c.352C>A (p.Leu118Ile)
n.534C>A
16g.2496500C=CA2202259829TBC1D24c.352C= (p.Leu118=)
n.534C=
16g.2496500C>GCA7843982TBC1D24c.352C>G (p.Leu118Val)
n.534C>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496500C>TCA394375630TBC1D24c.352C>T (p.Leu118Phe)
n.534C>T
ClinVar
16g.2496501T>ACA394375632TBC1D24c.353T>A (p.Leu118His)
n.535T>A
16g.2496501T>CCA394375633TBC1D24c.353T>C (p.Leu118Pro)
n.535T>C
16g.2496501T>GCA394375634TBC1D24c.353T>G (p.Leu118Arg)
n.535T>G
16g.2496502C>ACA493366728TBC1D24c.354C>A (p.Leu118=)
n.536C>A
16g.2496502C>GCA493366729TBC1D24c.354C>G (p.Leu118=)
n.536C>G
ClinVar dbSNP
16g.2496502C>TCA493366730TBC1D24c.354C>T (p.Leu118=)
n.536C>T
16g.2496503C>ACA394375636TBC1D24c.355C>A (p.Leu119Met)
n.537C>A
16g.2496503C>GCA394375637TBC1D24c.355C>G (p.Leu119Val)
n.537C>G
16g.2496503C>TCA493366732TBC1D24c.355C>T (p.Leu119=)
n.537C>T
16g.2496504T>ACA394375639TBC1D24c.356T>A (p.Leu119Gln)
n.538T>A
16g.2496504T>CCA394375641TBC1D24c.356T>C (p.Leu119Pro)
n.538T>C
gnomAD v4
16g.2496504T>GCA394375643TBC1D24c.356T>G (p.Leu119Arg)
n.538T>G
16g.2496505delCA2631209670TBC1D24c.357del (p.Cys120AlafsTer?)
n.539del
gnomAD v4
16g.2496505G>ACA493366733TBC1D24c.357G>A (p.Leu119=)
n.539G>A
16g.2496505G>CCA493366734TBC1D24c.357G>C (p.Leu119=)
n.539G>C
gnomAD v4
16g.2496505G=CA2202259830TBC1D24c.357G= (p.Leu119=)
n.539G=
16g.2496505G>TCA493366735TBC1D24c.357G>T (p.Leu119=)
n.539G>T
dbSNP
16g.2496506T>ACA394375645TBC1D24c.358T>A (p.Cys120Ser)
n.540T>A
16g.2496506T>CCA276809622TBC1D24c.358T>C (p.Cys120Arg)
n.540T>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496506T>GCA394375647TBC1D24c.358T>G (p.Cys120Gly)
n.540T>G
16g.2496506T=CA2202259831TBC1D24c.358T= (p.Cys120=)
n.540T=
16g.2496507G>ACA394375651TBC1D24c.359G>A (p.Cys120Tyr)
n.541G>A
16g.2496507G>CCA394375652TBC1D24c.359G>C (p.Cys120Ser)
n.541G>C
16g.2496507G>TCA394375653TBC1D24c.359G>T (p.Cys120Phe)
n.541G>T
gnomAD v4
16g.2496508C>ACA7843983TBC1D24c.360C>A (p.Cys120Ter)
n.542C>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496508C=CA2202259832TBC1D24c.360C= (p.Cys120=)
n.542C=
16g.2496508C>GCA394375656TBC1D24c.360C>G (p.Cys120Trp)
n.542C>G
16g.2496508C>TCA493366597TBC1D24c.360C>T (p.Cys120=)
n.542C>T
gnomAD v4
16g.2496509C>ACA394375658TBC1D24c.361C>A (p.Leu121Met)
n.543C>A
16g.2496509C=CA2202259833TBC1D24c.361C= (p.Leu121=)
n.543C=
16g.2496509C>GCA394375660TBC1D24c.361C>G (p.Leu121Val)
n.543C>G
dbSNP gnomAD v3 gnomAD v4
16g.2496509C>TCA493366598TBC1D24c.361C>T (p.Leu121=)
n.543C>T
16g.2496510T>ACA394375662TBC1D24c.362T>A (p.Leu121Gln)
n.544T>A
16g.2496510T>CCA394375663TBC1D24c.362T>C (p.Leu121Pro)
n.544T>C
16g.2496510T>GCA394375665TBC1D24c.362T>G (p.Leu121Arg)
n.544T>G
16g.2496511G>ACA493366599TBC1D24c.363G>A (p.Leu121=)
n.545G>A
16g.2496511G>CCA493366600TBC1D24c.363G>C (p.Leu121=)
n.545G>C
16g.2496511G>TCA493366601TBC1D24c.363G>T (p.Leu121=)
n.545G>T
gnomAD v4
16g.2496512G>ACA394375671TBC1D24c.364G>A (p.Ala122Thr)
n.546G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496512G>CCA394375669TBC1D24c.364G>C (p.Ala122Pro)
n.546G>C
gnomAD v4
16g.2496512G=CA2202259834TBC1D24c.364G= (p.Ala122=)
n.546G=
16g.2496512G>TCA394375667TBC1D24c.364G>T (p.Ala122Ser)
n.546G>T
16g.2496513C>ACA394375673TBC1D24c.365C>A (p.Ala122Asp)
n.547C>A
gnomAD v4
16g.2496513C>GCA394375675TBC1D24c.365C>G (p.Ala122Gly)
n.547C>G
16g.2496513C>TCA394375676TBC1D24c.365C>T (p.Ala122Val)
n.547C>T
16g.2496514C>ACA493366605TBC1D24c.366C>A (p.Ala122=)
n.548C>A
16g.2496514C=CA2202259835TBC1D24c.366C= (p.Ala122=)
n.548C=
16g.2496514C>GCA493366606TBC1D24c.366C>G (p.Ala122=)
n.548C>G
16g.2496514C>TCA7843984TBC1D24c.366C>T (p.Ala122=)
n.548C>T
dbSNP ExAC gnomAD v4
16g.2496515A=CA2202259836TBC1D24c.367A= (p.Asn123=)
n.549A=
16g.2496515A>CCA394375680TBC1D24c.367A>C (p.Asn123His)
n.549A>C
16g.2496515A>GCA394375682TBC1D24c.367A>G (p.Asn123Asp)
n.549A>G
dbSNP gnomAD v2 gnomAD v4
16g.2496515A>TCA394375683TBC1D24c.367A>T (p.Asn123Tyr)
n.549A>T
16g.2496516A=CA2202259837TBC1D24c.368A= (p.Asn123=)
n.550A=
16g.2496516A>CCA394375685TBC1D24c.368A>C (p.Asn123Thr)
n.550A>C
16g.2496516A>GCA394375686TBC1D24c.368A>G (p.Asn123Ser)
n.550A>G
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2496516A>TCA394375688TBC1D24c.368A>T (p.Asn123Ile)
n.550A>T
16g.2496517C>ACA394375690TBC1D24c.369C>A (p.Asn123Lys)
n.551C>A
16g.2496517C>GCA394375692TBC1D24c.369C>G (p.Asn123Lys)
n.551C>G
16g.2496517C>TCA493366610TBC1D24c.369C>T (p.Asn123=)
n.551C>T
16g.2496518C>ACA394375696TBC1D24c.370C>A (p.Gln124Lys)
n.552C>A
ClinVar dbSNP
16g.2496518C>GCA394375698TBC1D24c.370C>G (p.Gln124Glu)
n.552C>G
16g.2496518C>TCA394375695TBC1D24c.370C>T (p.Gln124Ter)
n.552C>T
gnomAD v4
16g.2496519A>CCA394375705TBC1D24c.371A>C (p.Gln124Pro)
n.553A>C
16g.2496519A>GCA394375701TBC1D24c.371A>G (p.Gln124Arg)
n.553A>G
gnomAD v4
16g.2496519A>TCA394375703TBC1D24c.371A>T (p.Gln124Leu)
n.553A>T
16g.2496520G>ACA493366612TBC1D24c.372G>A (p.Gln124=)
n.554G>A
16g.2496520G>CCA394375706TBC1D24c.372G>C (p.Gln124His)
n.554G>C
16g.2496520G>TCA394375707TBC1D24c.372G>T (p.Gln124His)
n.554G>T
16g.2496521T>ACA394375709TBC1D24c.373T>A (p.Phe125Ile)
n.555T>A
16g.2496521T>CCA394375711TBC1D24c.373T>C (p.Phe125Leu)
n.555T>C
ClinVar dbSNP
16g.2496521T>GCA394375714TBC1D24c.373T>G (p.Phe125Val)
n.555T>G
16g.2496521T=CA2202259838TBC1D24c.373T= (p.Phe125=)
n.555T=
16g.2496522T>ACA394375716TBC1D24c.374T>A (p.Phe125Tyr)
n.556T>A
16g.2496522T>CCA394375718TBC1D24c.374T>C (p.Phe125Ser)
n.556T>C
16g.2496522T>GCA394375719TBC1D24c.374T>G (p.Phe125Cys)
n.556T>G
16g.2496523C>ACA394375721TBC1D24c.375C>A (p.Phe125Leu)
n.557C>A
16g.2496523C=CA2202259839TBC1D24c.375C= (p.Phe125=)
n.557C=
16g.2496523C>GCA394375723TBC1D24c.375C>G (p.Phe125Leu)
n.557C>G
16g.2496523C>TCA493366614TBC1D24c.375C>T (p.Phe125=)
n.557C>T
dbSNP gnomAD v2 gnomAD v4
16g.2496524C>ACA394375729TBC1D24c.376C>A (p.Pro126Thr)
n.558C>A
16g.2496524C=CA2202259840TBC1D24c.376C= (p.Pro126=)
n.558C=
16g.2496524C>GCA394375727TBC1D24c.376C>G (p.Pro126Ala)
n.558C>G
16g.2496524C>TCA394375726TBC1D24c.376C>T (p.Pro126Ser)
n.558C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2496525C>ACA394375732TBC1D24c.377C>A (p.Pro126His)
n.559C>A
16g.2496525C>GCA394375733TBC1D24c.377C>G (p.Pro126Arg)
n.559C>G
16g.2496525C>TCA394375735TBC1D24c.377C>T (p.Pro126Leu)
n.559C>T
COSMIC
16g.2496526C>ACA493366618TBC1D24c.378C>A (p.Pro126=)
n.560C>A
16g.2496526C=CA2202259841TBC1D24c.378C= (p.Pro126=)
n.560C=
16g.2496526C>GCA493366619TBC1D24c.378C>G (p.Pro126=)
n.560C>G
dbSNP
16g.2496526C>TCA7843985TBC1D24c.378C>T (p.Pro126=)
n.560C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496527G>ACA319020TBC1D24c.379G>A (p.Asp127Asn)
n.561G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496527G>CCA394375739TBC1D24c.379G>C (p.Asp127His)
n.561G>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496527G=CA2202259842TBC1D24c.379G= (p.Asp127=)
n.561G=
16g.2496527G>TCA394375741TBC1D24c.379G>T (p.Asp127Tyr)
n.561G>T
16g.2496528A=CA2202259843TBC1D24c.380A= (p.Asp127=)
n.562A=
16g.2496528A>CCA394375742TBC1D24c.380A>C (p.Asp127Ala)
n.562A>C
16g.2496528A>GCA394375744TBC1D24c.380A>G (p.Asp127Gly)
n.562A>G
ClinVar dbSNP
16g.2496528A>TCA394375745TBC1D24c.380A>T (p.Asp127Val)
n.562A>T
16g.2496529C>ACA394375747TBC1D24c.381C>A (p.Asp127Glu)
n.563C>A
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.2496529C=CA2202259844TBC1D24c.381C= (p.Asp127=)
n.563C=
16g.2496529C>GCA394375748TBC1D24c.381C>G (p.Asp127Glu)
n.563C>G
16g.2496529C>TCA493366623TBC1D24c.381C>T (p.Asp127=)
n.563C>T
dbSNP gnomAD v2 gnomAD v4
16g.2496530A>CCA394375755TBC1D24c.382A>C (p.Ile128Leu)
n.564A>C
16g.2496530A>GCA394375753TBC1D24c.382A>G (p.Ile128Val)
n.564A>G
16g.2496530A>TCA394375751TBC1D24c.382A>T (p.Ile128Phe)
n.564A>T
16g.2496531T>ACA394375757TBC1D24c.383T>A (p.Ile128Asn)
n.565T>A
16g.2496531T>CCA394375759TBC1D24c.383T>C (p.Ile128Thr)
n.565T>C
16g.2496531T>GCA394375760TBC1D24c.383T>G (p.Ile128Ser)
n.565T>G
16g.2496531_2496534delinsTCTCCA2202259845TBC1D24c.383_386delinsTCTC (p.Ile128=)
n.565_568delinsTCTC
16g.2496532C>ACA493366625TBC1D24c.384C>A (p.Ile128=)
n.566C>A
16g.2496532C=CA2202259847TBC1D24c.384C= (p.Ile128=)
n.566C=
16g.2496532C>GCA7843987TBC1D24c.384C>G (p.Ile128Met)
n.566C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496532C>TCA7843986TBC1D24c.384C>T (p.Ile128=)
n.566C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496534_2496536delCA2202259846TBC1D24c.386_388del (p.Ser129del)
n.568_570del
dbSNP gnomAD v4
16g.2496533T>ACA394375763TBC1D24c.385T>A (p.Ser129Thr)
n.567T>A
16g.2496533T>CCA394375765TBC1D24c.385T>C (p.Ser129Pro)
n.567T>C
16g.2496533T>GCA394375767TBC1D24c.385T>G (p.Ser129Ala)
n.567T>G
16g.2496534C>ACA394375769TBC1D24c.386C>A (p.Ser129Tyr)
n.568C>A
16g.2496534C=CA2202259848TBC1D24c.386C= (p.Ser129=)
n.568C=
16g.2496534C>GCA7843988TBC1D24c.386C>G (p.Ser129Cys)
n.568C>G
dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496534C>TCA394375772TBC1D24c.386C>T (p.Ser129Phe)
n.568C>T
COSMIC
16g.2496534_2496537delinsCCTTCA2202259849TBC1D24c.386_389delinsCCTT (p.Ser129=)
n.568_571delinsCCTT
16g.2496535C>ACA493366627TBC1D24c.387C>A (p.Ser129=)
n.569C>A
16g.2496535C=CA2202259850TBC1D24c.387C= (p.Ser129=)
n.569C=
16g.2496535C>GCA493366628TBC1D24c.387C>G (p.Ser129=)
n.569C>G
16g.2496535C>TCA7843989TBC1D24c.387C>T (p.Ser129=)
n.569C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.2496537_2496539delCA719315782TBC1D24c.389_391del (p.Phe130del)
n.571_573del
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.2496536T>ACA394375778TBC1D24c.388T>A (p.Phe130Ile)
n.570T>A
16g.2496536T>CCA394375779TBC1D24c.388T>C (p.Phe130Leu)
n.570T>C
16g.2496536T>GCA394375776TBC1D24c.388T>G (p.Phe130Val)
n.570T>G
16g.2496537T>ACA394375783TBC1D24c.389T>A (p.Phe130Tyr)
n.571T>A
16g.2496537T>CCA394375785TBC1D24c.389T>C (p.Phe130Ser)
n.571T>C
16g.2496537T>GCA394375787TBC1D24c.389T>G (p.Phe130Cys)
n.571T>G
16g.2496538C>ACA394375789TBC1D24c.390C>A (p.Phe130Leu)
n.572C>A
16g.2496538C=CA2202259851TBC1D24c.390C= (p.Phe130=)
n.572C=
16g.2496538C>GCA394375791TBC1D24c.390C>G (p.Phe130Leu)
n.572C>G
16g.2496538C>TCA493366630TBC1D24c.390C>T (p.Phe130=)
n.572C>T
dbSNP gnomAD v2 gnomAD v4
16g.2496539T>ACA394375797TBC1D24c.391T>A (p.Cys131Ser)
n.573T>A
16g.2496539T>CCA394375793TBC1D24c.391T>C (p.Cys131Arg)
n.573T>C
16g.2496539T>GCA394375795TBC1D24c.391T>G (p.Cys131Gly)
n.573T>G
gnomAD v4
16g.2496540G>ACA394375799TBC1D24c.392G>A (p.Cys131Tyr)
n.574G>A
16g.2496540G>CCA394375801TBC1D24c.392G>C (p.Cys131Ser)
n.574G>C
16g.2496540G>TCA394375803TBC1D24c.392G>T (p.Cys131Phe)
n.574G>T
16g.2496541C>ACA394375805TBC1D24c.393C>A (p.Cys131Ter)
n.575C>A
16g.2496541C=CA2202259852TBC1D24c.393C= (p.Cys131=)
n.575C=
16g.2496541C>GCA7843991TBC1D24c.393C>G (p.Cys131Trp)
n.575C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496541C>TCA7843990TBC1D24c.393C>T (p.Cys131=)
n.575C>T
dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496542C>ACA394375810TBC1D24c.394C>A (p.Pro132Thr)
n.576C>A
16g.2496542C=CA2202259853TBC1D24c.394C= (p.Pro132=)
n.576C=
16g.2496542C>GCA394375811TBC1D24c.394C>G (p.Pro132Ala)
n.576C>G
16g.2496542C>TCA394375809TBC1D24c.394C>T (p.Pro132Ser)
n.576C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2496543C>ACA394375816TBC1D24c.395C>A (p.Pro132His)
n.577C>A
16g.2496543C>GCA394375813TBC1D24c.395C>G (p.Pro132Arg)
n.577C>G
16g.2496543C>TCA394375814TBC1D24c.395C>T (p.Pro132Leu)
n.577C>T
gnomAD v4
16g.2496544C>ACA276809623TBC1D24c.396C>A (p.Pro132=)
n.578C>A
dbSNP gnomAD v3 gnomAD v4
16g.2496544C=CA2202259854TBC1D24c.396C= (p.Pro132=)
n.578C=
16g.2496544C>GCA493366634TBC1D24c.396C>G (p.Pro132=)
n.578C>G
gnomAD v4
16g.2496544C>TCA493366633TBC1D24c.396C>T (p.Pro132=)
n.578C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496545G>ACA7843992TBC1D24c.397G>A (p.Ala133Thr)
n.579G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496545G>CCA394375823TBC1D24c.397G>C (p.Ala133Pro)
n.579G>C
16g.2496545G=CA2202259855TBC1D24c.397G= (p.Ala133=)
n.579G=
16g.2496545G>TCA394375825TBC1D24c.397G>T (p.Ala133Ser)
n.579G>T
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2496545dupCA2631209801TBC1D24c.397dup (p.Ala133GlyfsTer?)
n.579dup
gnomAD v4
16g.2496546C>ACA394375834TBC1D24c.398C>A (p.Ala133Asp)
n.580C>A
16g.2496546C=CA2202259856TBC1D24c.398C= (p.Ala133=)
n.580C=
16g.2496546C>GCA394375831TBC1D24c.398C>G (p.Ala133Gly)
n.580C>G
gnomAD v4
16g.2496546C>TCA394375833TBC1D24c.398C>T (p.Ala133Val)
n.580C>T
ClinVar dbSNP
16g.2496548delCA620709057TBC1D24c.400del (p.Leu134CysfsTer?)
n.582del
gnomAD v2
16g.2496547C>ACA493366637TBC1D24c.399C>A (p.Ala133=)
n.581C>A
16g.2496547C=CA2202259857TBC1D24c.399C= (p.Ala133=)
n.581C=
16g.2496547C>GCA493366639TBC1D24c.399C>G (p.Ala133=)
n.581C>G
16g.2496547C>TCA493366642TBC1D24c.399C>T (p.Ala133=)
n.581C>T
dbSNP
16g.2496547_2496548insTGGCA2805583189TBC1D24c.399_400insTGG (p.Ala133_Leu134insTrp)
n.581_582insTGG
16g.2496548C>ACA394375836TBC1D24c.400C>A (p.Leu134Met)
n.582C>A
16g.2496548C=CA2202259858TBC1D24c.400C= (p.Leu134=)
n.582C=
16g.2496548C>GCA394375839TBC1D24c.400C>G (p.Leu134Val)
n.582C>G
dbSNP
16g.2496548C>TCA493366643TBC1D24c.400C>T (p.Leu134=)
n.582C>T
ClinVar dbSNP gnomAD v4
16g.2496549T>ACA394375841TBC1D24c.401T>A (p.Leu134Gln)
n.583T>A
16g.2496549T>CCA394375844TBC1D24c.401T>C (p.Leu134Pro)
n.583T>C
ClinVar dbSNP gnomAD v4
16g.2496549T>GCA394375845TBC1D24c.401T>G (p.Leu134Arg)
n.583T>G
16g.2496549T=CA2202259859TBC1D24c.401T= (p.Leu134=)
n.583T=
16g.2496549_2496550insAATTTTTTTTTTTTTTTTTGAGATCA2805583190TBC1D24c.401_402insAATTTTTTTTTTTTTTTTTGAGAT (p.Leu134_Pro135insIlePhePhePhePhePheGluMet)
n.583_584insAATTTTTTTTTTTTTTTTTGAGAT
16g.2496550G>ACA493366647TBC1D24c.402G>A (p.Leu134=)
n.584G>A
16g.2496550G>CCA493366649TBC1D24c.402G>C (p.Leu134=)
n.584G>C
gnomAD v4
16g.2496550G>TCA493366648TBC1D24c.402G>T (p.Leu134=)
n.584G>T
gnomAD v4
16g.2496551C>ACA394375848TBC1D24c.403C>A (p.Pro135Thr)
n.585C>A
16g.2496551C>GCA394375852TBC1D24c.403C>G (p.Pro135Ala)
n.585C>G
16g.2496551C>TCA394375850TBC1D24c.403C>T (p.Pro135Ser)
n.585C>T
gnomAD v4
16g.2496552delCA2580091033TBC1D24c.404del (p.Pro135ArgfsTer?)
n.586del
ClinVar
16g.2496552C>ACA394375854TBC1D24c.404C>A (p.Pro135Gln)
n.586C>A
16g.2496552C=CA2202259860TBC1D24c.404C= (p.Pro135=)
n.586C=
16g.2496552C>GCA394375856TBC1D24c.404C>G (p.Pro135Arg)
n.586C>G
16g.2496552C>TCA16044430TBC1D24c.404C>T (p.Pro135Leu)
n.586C>T
ClinVar dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched