Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.2496617_2496631delCA620709060TBC1D24c.469_483del (p.Arg157_Cys161del)
n.651_665del
dbSNP gnomAD v2
16g.2496629T>ACA394376186TBC1D24c.481T>A (p.Cys161Ser)
n.663T>A
16g.2496629T>CCA394376187TBC1D24c.481T>C (p.Cys161Arg)
n.663T>C
16g.2496629T>GCA394376189TBC1D24c.481T>G (p.Cys161Gly)
n.663T>G
16g.2496630G>ACA394376192TBC1D24c.482G>A (p.Cys161Tyr)
n.664G>A
gnomAD v4
16g.2496630G>CCA394376194TBC1D24c.482G>C (p.Cys161Ser)
n.664G>C
16g.2496630G=CA2202259913TBC1D24c.482G= (p.Cys161=)
n.664G=
16g.2496630G>TCA7844008TBC1D24c.482G>T (p.Cys161Phe)
n.664G>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496631C>ACA7844009TBC1D24c.483C>A (p.Cys161Ter)
n.665C>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496631C=CA2202259914TBC1D24c.483C= (p.Cys161=)
n.665C=
16g.2496631C>GCA394376198TBC1D24c.483C>G (p.Cys161Trp)
n.665C>G
16g.2496631C>TCA493366769TBC1D24c.483C>T (p.Cys161=)
n.665C>T
gnomAD v4 COSMIC
16g.2496632A>CCA394376201TBC1D24c.484A>C (p.Asn162His)
n.666A>C
16g.2496632A>GCA394376203TBC1D24c.484A>G (p.Asn162Asp)
n.666A>G
16g.2496632A>TCA394376202TBC1D24c.484A>T (p.Asn162Tyr)
n.666A>T
16g.2496633A=CA2202259915TBC1D24c.485A= (p.Asn162=)
n.667A=
16g.2496633A>CCA394376207TBC1D24c.485A>C (p.Asn162Thr)
n.667A>C
16g.2496633A>GCA7844010TBC1D24c.485A>G (p.Asn162Ser)
n.667A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496633A>TCA394376209TBC1D24c.485A>T (p.Asn162Ile)
n.667A>T
16g.2496634T>ACA10647225TBC1D24c.486T>A (p.Asn162Lys)
n.668T>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496634T>CCA493366773TBC1D24c.486T>C (p.Asn162=)
n.668T>C
16g.2496634T>GCA394376212TBC1D24c.486T>G (p.Asn162Lys)
n.668T>G
16g.2496634T=CA2202259916TBC1D24c.486T= (p.Asn162=)
n.668T=
16g.2496635G>ACA394376214TBC1D24c.487G>A (p.Asp163Asn)
n.669G>A
16g.2496635G>CCA394376216TBC1D24c.487G>C (p.Asp163His)
n.669G>C
16g.2496635G>TCA394376217TBC1D24c.487G>T (p.Asp163Tyr)
n.669G>T
ClinVar
16g.2496636A>CCA394376219TBC1D24c.488A>C (p.Asp163Ala)
n.670A>C
16g.2496636A>GCA394376221TBC1D24c.488A>G (p.Asp163Gly)
n.670A>G
COSMIC
16g.2496636A>TCA394376223TBC1D24c.488A>T (p.Asp163Val)
n.670A>T
16g.2496637C>ACA394376224TBC1D24c.489C>A (p.Asp163Glu)
n.671C>A
gnomAD v4
16g.2496637C>GCA394376225TBC1D24c.489C>G (p.Asp163Glu)
n.671C>G
16g.2496637C>TCA493366852TBC1D24c.489C>T (p.Asp163=)
n.671C>T
ClinVar
16g.2496638C>ACA394376229TBC1D24c.490C>A (p.Pro164Thr)
n.672C>A
16g.2496638C=CA2202259917TBC1D24c.490C= (p.Pro164=)
n.672C=
16g.2496638C>GCA394376230TBC1D24c.490C>G (p.Pro164Ala)
n.672C>G
16g.2496638C>TCA394376233TBC1D24c.490C>T (p.Pro164Ser)
n.672C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2496639C>ACA394376235TBC1D24c.491C>A (p.Pro164His)
n.673C>A
16g.2496639C>GCA394376237TBC1D24c.491C>G (p.Pro164Arg)
n.673C>G
16g.2496639C>TCA394376238TBC1D24c.491C>T (p.Pro164Leu)
n.673C>T
gnomAD v4
16g.2496640C>ACA493366855TBC1D24c.492C>A (p.Pro164=)
n.674C>A
gnomAD v4
16g.2496640C=CA2202259918TBC1D24c.492C= (p.Pro164=)
n.674C=
16g.2496640C>GCA7844012TBC1D24c.492C>G (p.Pro164=)
n.674C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496640C>TCA7844011TBC1D24c.492C>T (p.Pro164=)
n.674C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496640_2496641delCA2544183399TBC1D24c.492_493del (p.Gly165GlnfsTer12)
n.674_675del
16g.2496641G>ACA318989TBC1D24c.493G>A (p.Gly165Ser)
n.675G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496641G>CCA394376243TBC1D24c.493G>C (p.Gly165Arg)
n.675G>C
gnomAD v4
16g.2496641G=CA2202259919TBC1D24c.493G= (p.Gly165=)
n.675G=
16g.2496641G>TCA394376245TBC1D24c.493G>T (p.Gly165Cys)
n.675G>T
ClinVar dbSNP gnomAD v4
16g.2496642G>ACA394376247TBC1D24c.494G>A (p.Gly165Asp)
n.676G>A
dbSNP gnomAD v2 gnomAD v4
16g.2496642G>CCA394376248TBC1D24c.494G>C (p.Gly165Ala)
n.676G>C
16g.2496642G=CA2202259920TBC1D24c.494G= (p.Gly165=)
n.676G=
16g.2496642G>TCA394376250TBC1D24c.494G>T (p.Gly165Val)
n.676G>T
gnomAD v4
16g.2496642_2496643insTCCA2529358813TBC1D24c.494_495insTC (p.Arg166ProfsTer4)
n.676_677insTC
16g.2496643C>ACA493366859TBC1D24c.495C>A (p.Gly165=)
n.677C>A
gnomAD v4
16g.2496643C=CA2202259921TBC1D24c.495C= (p.Gly165=)
n.677C=
16g.2496643C>GCA7844013TBC1D24c.495C>G (p.Gly165=)
n.677C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496643C>TCA493366860TBC1D24c.495C>T (p.Gly165=)
n.677C>T
dbSNP gnomAD v2 gnomAD v4
16g.2496644A>CCA493366861TBC1D24c.496A>C (p.Arg166=)
n.678A>C
16g.2496644A>GCA394376254TBC1D24c.496A>G (p.Arg166Gly)
n.678A>G
16g.2496644A>TCA394376256TBC1D24c.496A>T (p.Arg166Trp)
n.678A>T
16g.2496644dupCA2202259922TBC1D24c.496dup (p.Arg166LysfsTer12)
n.678dup
dbSNP
16g.2496645G>ACA394376259TBC1D24c.497G>A (p.Arg166Lys)
n.679G>A
16g.2496645G>CCA394376261TBC1D24c.497G>C (p.Arg166Thr)
n.679G>C
16g.2496645G>TCA394376263TBC1D24c.497G>T (p.Arg166Met)
n.679G>T
16g.2496646G>ACA276809627TBC1D24c.498G>A (p.Arg166=)
n.680G>A
dbSNP
16g.2496646G>CCA394376265TBC1D24c.498G>C (p.Arg166Ser)
n.680G>C
16g.2496646G=CA2202259923TBC1D24c.498G= (p.Arg166=)
n.680G=
16g.2496646G>TCA394376267TBC1D24c.498G>T (p.Arg166Ser)
n.680G>T
16g.2496647A=CA2202259924TBC1D24c.499A= (p.Arg167=)
n.681A=
16g.2496647A>CCA7844014TBC1D24c.499A>C (p.Arg167=)
n.681A>C
dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496647A>GCA394376270TBC1D24c.499A>G (p.Arg167Gly)
n.681A>G
16g.2496647A>TCA394376272TBC1D24c.499A>T (p.Arg167Trp)
n.681A>T
dbSNP
16g.2496648G>ACA394376273TBC1D24c.500G>A (p.Arg167Lys)
n.682G>A
16g.2496648G>CCA394376274TBC1D24c.500G>C (p.Arg167Thr)
n.682G>C
dbSNP gnomAD v3 gnomAD v4
16g.2496648G=CA2202259925TBC1D24c.500G= (p.Arg167=)
n.682G=
16g.2496648G>TCA394376275TBC1D24c.500G>T (p.Arg167Met)
n.682G>T
16g.2496649G>ACA493366867TBC1D24c.501G>A (p.Arg167=)
n.683G>A
dbSNP gnomAD v2
16g.2496649G>CCA394376279TBC1D24c.501G>C (p.Arg167Ser)
n.683G>C
16g.2496649G=CA2202259926TBC1D24c.501G= (p.Arg167=)
n.683G=
16g.2496649G>TCA394376277TBC1D24c.501G>T (p.Arg167Ser)
n.683G>T
gnomAD v4
16g.2496650C>ACA394376281TBC1D24c.502C>A (p.Leu168Met)
n.684C>A
16g.2496650C>GCA394376283TBC1D24c.502C>G (p.Leu168Val)
n.684C>G
16g.2496650C>TCA493366869TBC1D24c.502C>T (p.Leu168=)
n.684C>T
16g.2496651T>ACA394376285TBC1D24c.503T>A (p.Leu168Gln)
n.685T>A
16g.2496651T>CCA7844015TBC1D24c.503T>C (p.Leu168Pro)
n.685T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496651T>GCA394376287TBC1D24c.503T>G (p.Leu168Arg)
n.685T>G
16g.2496651T=CA2202259927TBC1D24c.503T= (p.Leu168=)
n.685T=
16g.2496652G>ACA493366873TBC1D24c.504G>A (p.Leu168=)
n.686G>A
16g.2496652G>CCA493366876TBC1D24c.504G>C (p.Leu168=)
n.686G>C
16g.2496652G>TCA493366878TBC1D24c.504G>T (p.Leu168=)
n.686G>T
gnomAD v4
16g.2496653A=CA2202259928TBC1D24c.505A= (p.Ile169=)
n.687A=
16g.2496653A>CCA394376292TBC1D24c.505A>C (p.Ile169Leu)
n.687A>C
16g.2496653A>GCA394376294TBC1D24c.505A>G (p.Ile169Val)
n.687A>G
COSMIC
16g.2496653A>TCA394376296TBC1D24c.505A>T (p.Ile169Phe)
n.687A>T
16g.2496654T>ACA394376297TBC1D24c.506T>A (p.Ile169Asn)
n.688T>A
16g.2496654T>CCA394376299TBC1D24c.506T>C (p.Ile169Thr)
n.688T>C
16g.2496654T>GCA394376302TBC1D24c.506T>G (p.Ile169Ser)
n.688T>G
16g.2496655_2496656insCTCCA2202259929TBC1D24c.507_508insCTC (p.Ile169_Asp170insLeu)
n.689_690insCTC
dbSNP
16g.2496655C>ACA493366884TBC1D24c.507C>A (p.Ile169=)
n.689C>A
dbSNP gnomAD v3 gnomAD v4
16g.2496655C=CA2202259930TBC1D24c.507C= (p.Ile169=)
n.689C=
16g.2496655C>GCA7844016TBC1D24c.507C>G (p.Ile169Met)
n.689C>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496655C>TCA493366886TBC1D24c.507C>T (p.Ile169=)
n.689C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496656G>ACA394376308TBC1D24c.508G>A (p.Asp170Asn)
n.690G>A
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2496656G>CCA394376311TBC1D24c.508G>C (p.Asp170His)
n.690G>C
gnomAD v4
16g.2496656G=CA2202259931TBC1D24c.508G= (p.Asp170=)
n.690G=
16g.2496656G>TCA394376312TBC1D24c.508G>T (p.Asp170Tyr)
n.690G>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496657A>CCA394376317TBC1D24c.509A>C (p.Asp170Ala)
n.691A>C
16g.2496657A>GCA394376319TBC1D24c.509A>G (p.Asp170Gly)
n.691A>G
16g.2496657A>TCA394376320TBC1D24c.509A>T (p.Asp170Val)
n.691A>T
16g.2496658C>ACA394376322TBC1D24c.510C>A (p.Asp170Glu)
n.692C>A
16g.2496658C>GCA394376324TBC1D24c.510C>G (p.Asp170Glu)
n.692C>G
16g.2496658C>TCA493366893TBC1D24c.510C>T (p.Asp170=)
n.692C>T
gnomAD v4
16g.2496659C>ACA394376327TBC1D24c.511C>A (p.Gln171Lys)
n.693C>A
16g.2496659C>GCA394376328TBC1D24c.511C>G (p.Gln171Glu)
n.693C>G
gnomAD v4
16g.2496659C>TCA394376330TBC1D24c.511C>T (p.Gln171Ter)
n.693C>T
16g.2496660A>CCA394376333TBC1D24c.512A>C (p.Gln171Pro)
n.694A>C
16g.2496660A>GCA394376334TBC1D24c.512A>G (p.Gln171Arg)
n.694A>G
16g.2496660A>TCA394376337TBC1D24c.512A>T (p.Gln171Leu)
n.694A>T
16g.2496661G>ACA493366898TBC1D24c.513G>A (p.Gln171=)
n.695G>A
16g.2496661G>CCA394376339TBC1D24c.513G>C (p.Gln171His)
n.695G>C
16g.2496661G>TCA394376341TBC1D24c.513G>T (p.Gln171His)
n.695G>T
gnomAD v4
16g.2496662A>CCA394376343TBC1D24c.514A>C (p.Ser172Arg)
n.696A>C
16g.2496662A>GCA394376345TBC1D24c.514A>G (p.Ser172Gly)
n.696A>G
16g.2496662A>TCA394376348TBC1D24c.514A>T (p.Ser172Cys)
n.696A>T
16g.2496663G>ACA394376355TBC1D24c.515G>A (p.Ser172Asn)
n.697G>A
16g.2496663G>CCA394376353TBC1D24c.515G>C (p.Ser172Thr)
n.697G>C
16g.2496663G>TCA394376351TBC1D24c.515G>T (p.Ser172Ile)
n.697G>T
16g.2496664C>ACA394376357TBC1D24c.516C>A (p.Ser172Arg)
n.698C>A
16g.2496664C>GCA394376358TBC1D24c.516C>G (p.Ser172Arg)
n.698C>G
16g.2496664C>TCA493366907TBC1D24c.516C>T (p.Ser172=)
n.698C>T
16g.2496665T>ACA394376359TBC1D24c.517T>A (p.Phe173Ile)
n.699T>A
dbSNP
16g.2496665T>CCA394376360TBC1D24c.517T>C (p.Phe173Leu)
n.699T>C
16g.2496665T>GCA394376362TBC1D24c.517T>G (p.Phe173Val)
n.699T>G
16g.2496665T=CA2202259932TBC1D24c.517T= (p.Phe173=)
n.699T=
16g.2496666T>ACA394376364TBC1D24c.518T>A (p.Phe173Tyr)
n.700T>A
16g.2496666T>CCA394376365TBC1D24c.518T>C (p.Phe173Ser)
n.700T>C
16g.2496666T>GCA394376366TBC1D24c.518T>G (p.Phe173Cys)
n.700T>G
16g.2496667C>ACA394376370TBC1D24c.519C>A (p.Phe173Leu)
n.701C>A
16g.2496667C=CA2202259933TBC1D24c.519C= (p.Phe173=)
n.701C=
16g.2496667C>GCA394376372TBC1D24c.519C>G (p.Phe173Leu)
n.701C>G
16g.2496667C>TCA7844017TBC1D24c.519C>T (p.Phe173=)
n.701C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496668C>ACA394376377TBC1D24c.520C>A (p.Leu174Met)
n.702C>A
16g.2496668C>GCA394376378TBC1D24c.520C>G (p.Leu174Val)
n.702C>G
ClinVar
16g.2496668C>TCA493366914TBC1D24c.520C>T (p.Leu174=)
n.702C>T
16g.2496669T>ACA394376384TBC1D24c.521T>A (p.Leu174Gln)
n.703T>A
16g.2496669T>CCA394376380TBC1D24c.521T>C (p.Leu174Pro)
n.703T>C
gnomAD v4
16g.2496669T>GCA394376382TBC1D24c.521T>G (p.Leu174Arg)
n.703T>G
16g.2496670G>ACA493366916TBC1D24c.522G>A (p.Leu174=)
n.704G>A
dbSNP
16g.2496670G>CCA493366918TBC1D24c.522G>C (p.Leu174=)
n.704G>C
16g.2496670G=CA2202259934TBC1D24c.522G= (p.Leu174=)
n.704G=
16g.2496670G>TCA493366920TBC1D24c.522G>T (p.Leu174=)
n.704G>T
16g.2496671G>ACA394376386TBC1D24c.523G>A (p.Ala175Thr)
n.705G>A
gnomAD v4
16g.2496671G>CCA394376388TBC1D24c.523G>C (p.Ala175Pro)
n.705G>C
ClinVar dbSNP
16g.2496671G>TCA394376391TBC1D24c.523G>T (p.Ala175Ser)
n.705G>T
16g.2496672C>ACA394376393TBC1D24c.524C>A (p.Ala175Asp)
n.706C>A
ClinVar dbSNP gnomAD v4
16g.2496672C=CA2202259935TBC1D24c.524C= (p.Ala175=)
n.706C=
16g.2496672C>GCA394376395TBC1D24c.524C>G (p.Ala175Gly)
n.706C>G
ClinVar dbSNP
16g.2496672C>TCA394376397TBC1D24c.524C>T (p.Ala175Val)
n.706C>T
gnomAD v4
16g.2496673C>ACA493366927TBC1D24c.525C>A (p.Ala175=)
n.707C>A
16g.2496673C>GCA493366928TBC1D24c.525C>G (p.Ala175=)
n.707C>G
16g.2496673C>TCA493366930TBC1D24c.525C>T (p.Ala175=)
n.707C>T
16g.2496674T>ACA394376399TBC1D24c.526T>A (p.Phe176Ile)
n.708T>A
16g.2496674T>CCA394376401TBC1D24c.526T>C (p.Phe176Leu)
n.708T>C
16g.2496674T>GCA394376403TBC1D24c.526T>G (p.Phe176Val)
n.708T>G
16g.2496675T>ACA394376405TBC1D24c.527T>A (p.Phe176Tyr)
n.709T>A
16g.2496675T>CCA394376407TBC1D24c.527T>C (p.Phe176Ser)
n.709T>C
16g.2496675T>GCA394376408TBC1D24c.527T>G (p.Phe176Cys)
n.709T>G
16g.2496676T>ACA394376412TBC1D24c.528T>A (p.Phe176Leu)
n.710T>A
16g.2496676T>CCA493366936TBC1D24c.528T>C (p.Phe176=)
n.710T>C
gnomAD v4
16g.2496676T>GCA394376410TBC1D24c.528T>G (p.Phe176Leu)
n.710T>G
16g.2496677G>ACA394376414TBC1D24c.529G>A (p.Glu177Lys)
n.711G>A
16g.2496677G>CCA394376418TBC1D24c.529G>C (p.Glu177Gln)
n.711G>C
16g.2496677G>TCA394376416TBC1D24c.529G>T (p.Glu177Ter)
n.711G>T
gnomAD v4
16g.2496678A=CA2202259936TBC1D24c.530A= (p.Glu177=)
n.712A=
16g.2496678A>CCA394376419TBC1D24c.530A>C (p.Glu177Ala)
n.712A>C
gnomAD v4
16g.2496678A>GCA7844018TBC1D24c.530A>G (p.Glu177Gly)
n.712A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496678A>TCA394376421TBC1D24c.530A>T (p.Glu177Val)
n.712A>T
16g.2496679G>ACA493366940TBC1D24c.531G>A (p.Glu177=)
n.713G>A
16g.2496679G>CCA394376423TBC1D24c.531G>C (p.Glu177Asp)
n.713G>C
16g.2496679G>TCA394376425TBC1D24c.531G>T (p.Glu177Asp)
n.713G>T
16g.2496680T>ACA394376427TBC1D24c.532T>A (p.Ser178Thr)
n.714T>A
16g.2496680T>CCA394376429TBC1D24c.532T>C (p.Ser178Pro)
n.714T>C
16g.2496680T>GCA394376431TBC1D24c.532T>G (p.Ser178Ala)
n.714T>G
16g.2496681C>ACA394376433TBC1D24c.533C>A (p.Ser178Ter)
n.715C>A
gnomAD v4
16g.2496681C=CA2202259937TBC1D24c.533C= (p.Ser178=)
n.715C=
16g.2496681C>GCA394376435TBC1D24c.533C>G (p.Ser178Trp)
n.715C>G
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2496681C>TCA156356TBC1D24c.533C>T (p.Ser178Leu)
n.715C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496682G>ACA7844019TBC1D24c.534G>A (p.Ser178=)
n.716G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496682G>CCA493366950TBC1D24c.534G>C (p.Ser178=)
n.716G>C
16g.2496682G=CA2202259938TBC1D24c.534G= (p.Ser178=)
n.716G=
16g.2496682G>TCA493366951TBC1D24c.534G>T (p.Ser178=)
n.716G>T
16g.2496683T>ACA394376443TBC1D24c.535T>A (p.Ser179Thr)
n.717T>A
16g.2496683T>CCA394376442TBC1D24c.535T>C (p.Ser179Pro)
n.717T>C
16g.2496683T>GCA394376440TBC1D24c.535T>G (p.Ser179Ala)
n.717T>G
16g.2496683dupCA2573152002TBC1D24c.535dup (p.Ser179PhefsTer?)
n.717dup
ClinVar dbSNP
16g.2496684C>ACA394376445TBC1D24c.536C>A (p.Ser179Tyr)
n.718C>A
16g.2496684C>GCA394376447TBC1D24c.536C>G (p.Ser179Cys)
n.718C>G
16g.2496684C>TCA394376449TBC1D24c.536C>T (p.Ser179Phe)
n.718C>T
gnomAD v4
16g.2496685C>ACA493366957TBC1D24c.537C>A (p.Ser179=)
n.719C>A
16g.2496685C>GCA493366958TBC1D24c.537C>G (p.Ser179=)
n.719C>G
16g.2496685C>TCA493366959TBC1D24c.537C>T (p.Ser179=)
n.719C>T
16g.2496686T>ACA394376451TBC1D24c.538T>A (p.Cys180Ser)
n.720T>A
16g.2496686T>CCA394376453TBC1D24c.538T>C (p.Cys180Arg)
n.720T>C
ClinVar
16g.2496686T>GCA394376455TBC1D24c.538T>G (p.Cys180Gly)
n.720T>G
16g.2496686_2496687delinsTGCA2202259939TBC1D24c.538_539delinsTG (p.Cys180=)
n.720_721delinsTG
16g.2496687delCA7844020TBC1D24c.539del (p.Cys180SerfsTer2)
n.721del
dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496687G>ACA394376458TBC1D24c.539G>A (p.Cys180Tyr)
n.721G>A
dbSNP gnomAD v2
16g.2496687G>CCA394376460TBC1D24c.539G>C (p.Cys180Ser)
n.721G>C
16g.2496687G=CA2202259940TBC1D24c.539G= (p.Cys180=)
n.721G=
16g.2496687G>TCA394376462TBC1D24c.539G>T (p.Cys180Phe)
n.721G>T
16g.2496688C>ACA394376465TBC1D24c.540C>A (p.Cys180Ter)
n.722C>A
ClinVar gnomAD v4
16g.2496688C>GCA394376467TBC1D24c.540C>G (p.Cys180Trp)
n.722C>G
16g.2496688C>TCA493366965TBC1D24c.540C>T (p.Cys180=)
n.722C>T
16g.2496689A=CA2202259941TBC1D24c.541A= (p.Met181=)
n.723A=
16g.2496689A>CCA394376473TBC1D24c.541A>C (p.Met181Leu)
n.723A>C
16g.2496689A>GCA394376471TBC1D24c.541A>G (p.Met181Val)
n.723A>G
ClinVar
16g.2496689A>TCA394376470TBC1D24c.541A>T (p.Met181Leu)
n.723A>T
dbSNP gnomAD v4
16g.2496690T>ACA394376474TBC1D24c.542T>A (p.Met181Lys)
n.724T>A
16g.2496690T>CCA394376475TBC1D24c.542T>C (p.Met181Thr)
n.724T>C
16g.2496690T>GCA394376476TBC1D24c.542T>G (p.Met181Arg)
n.724T>G
16g.2496691G>ACA394376479TBC1D24c.543G>A (p.Met181Ile)
n.725G>A
16g.2496691G>CCA394376481TBC1D24c.543G>C (p.Met181Ile)
n.725G>C
16g.2496691G>TCA394376483TBC1D24c.543G>T (p.Met181Ile)
n.725G>T
16g.2496692A>CCA394376487TBC1D24c.544A>C (p.Thr182Pro)
n.726A>C
16g.2496692A>GCA394376484TBC1D24c.544A>G (p.Thr182Ala)
n.726A>G
16g.2496692A>TCA394376486TBC1D24c.544A>T (p.Thr182Ser)
n.726A>T
16g.2496692_2496693delinsACCA2202259942TBC1D24c.544_545delinsAC (p.Thr182=)
n.726_727delinsAC
16g.2496693delCA620709063TBC1D24c.545del (p.Thr182SerfsTer6)
n.727del
dbSNP gnomAD v2 gnomAD v4
16g.2496693C>ACA394376489TBC1D24c.545C>A (p.Thr182Lys)
n.727C>A
16g.2496693C=CA2202259943TBC1D24c.545C= (p.Thr182=)
n.727C=
16g.2496693C>GCA394376491TBC1D24c.545C>G (p.Thr182Arg)
n.727C>G
16g.2496693C>TCA7844021TBC1D24c.545C>T (p.Thr182Met)
n.727C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496694G>ACA7844022TBC1D24c.546G>A (p.Thr182=)
n.728G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496694G>CCA493366972TBC1D24c.546G>C (p.Thr182=)
n.728G>C
16g.2496694G=CA2202259944TBC1D24c.546G= (p.Thr182=)
n.728G=
16g.2496694G>TCA7844023TBC1D24c.546G>T (p.Thr182=)
n.728G>T
dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496695T>ACA394376496TBC1D24c.547T>A (p.Phe183Ile)
n.729T>A
16g.2496695T>CCA394376499TBC1D24c.547T>C (p.Phe183Leu)
n.729T>C
16g.2496695T>GCA394376497TBC1D24c.547T>G (p.Phe183Val)
n.729T>G
16g.2496696T>ACA394376502TBC1D24c.548T>A (p.Phe183Tyr)
n.730T>A
16g.2496696T>CCA394376503TBC1D24c.548T>C (p.Phe183Ser)
n.730T>C
gnomAD v4
16g.2496696T>GCA394376505TBC1D24c.548T>G (p.Phe183Cys)
n.730T>G
16g.2496697T>ACA394376507TBC1D24c.549T>A (p.Phe183Leu)
n.731T>A
16g.2496697T>CCA493366977TBC1D24c.549T>C (p.Phe183=)
n.731T>C
16g.2496697T>GCA394376509TBC1D24c.549T>G (p.Phe183Leu)
n.731T>G
16g.2496698G>ACA394376512TBC1D24c.550G>A (p.Gly184Arg)
n.732G>A
dbSNP
16g.2496698G>CCA394376514TBC1D24c.550G>C (p.Gly184Arg)
n.732G>C
16g.2496698G>TCA394376516TBC1D24c.550G>T (p.Gly184Trp)
n.732G>T
16g.2496699G>ACA394376519TBC1D24c.551G>A (p.Gly184Glu)
n.733G>A
16g.2496699G>CCA394376520TBC1D24c.551G>C (p.Gly184Ala)
n.733G>C
16g.2496699G>TCA394376523TBC1D24c.551G>T (p.Gly184Val)
n.733G>T
16g.2496699_2496705delinsGGGACCTCA2202259945TBC1D24c.551_557delinsGGGACCT (p.Gly184=)
n.733_739delinsGGGACCT
16g.2496700G>ACA493366980TBC1D24c.552G>A (p.Gly184=)
n.734G>A
dbSNP gnomAD v2
16g.2496700G>CCA493366982TBC1D24c.552G>C (p.Gly184=)
n.734G>C
16g.2496700G=CA2202259946TBC1D24c.552G= (p.Gly184=)
n.734G=
16g.2496700G>TCA493366981TBC1D24c.552G>T (p.Gly184=)
n.734G>T
16g.2496702_2496707delCA620709064TBC1D24c.554_559del (p.Asp185_Leu186del)
n.736_741del
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496701G>ACA394376525TBC1D24c.553G>A (p.Asp185Asn)
n.735G>A
16g.2496701G>CCA394376529TBC1D24c.553G>C (p.Asp185His)
n.735G>C
16g.2496701G>TCA394376527TBC1D24c.553G>T (p.Asp185Tyr)
n.735G>T
16g.2496702A>CCA394376532TBC1D24c.554A>C (p.Asp185Ala)
n.736A>C
16g.2496702A>GCA394376536TBC1D24c.554A>G (p.Asp185Gly)
n.736A>G
16g.2496702A>TCA394376534TBC1D24c.554A>T (p.Asp185Val)
n.736A>T
16g.2496703C>ACA394376538TBC1D24c.555C>A (p.Asp185Glu)
n.737C>A
16g.2496703C=CA2202259947TBC1D24c.555C= (p.Asp185=)
n.737C=
16g.2496703C>GCA394376539TBC1D24c.555C>G (p.Asp185Glu)
n.737C>G
16g.2496703C>TCA493366986TBC1D24c.555C>T (p.Asp185=)
n.737C>T
ClinVar dbSNP
16g.2496704C>ACA394376543TBC1D24c.556C>A (p.Leu186Met)
n.738C>A
dbSNP gnomAD v4
16g.2496704C=CA2202259948TBC1D24c.556C= (p.Leu186=)
n.738C=
16g.2496704C>GCA394376544TBC1D24c.556C>G (p.Leu186Val)
n.738C>G
ClinVar dbSNP
16g.2496704C>TCA493366987TBC1D24c.556C>T (p.Leu186=)
n.738C>T
16g.2496704_2496705delinsCTCA2202259949TBC1D24c.556_557delinsCT (p.Leu186=)
n.738_739delinsCT
16g.2496705delCA620709065TBC1D24c.557del (p.Leu186ArgfsTer2)
n.739del
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496705T>ACA394376546TBC1D24c.557T>A (p.Leu186Gln)
n.739T>A
16g.2496705T>CCA394376549TBC1D24c.557T>C (p.Leu186Pro)
n.739T>C
gnomAD v4
16g.2496705T>GCA394376548TBC1D24c.557T>G (p.Leu186Arg)
n.739T>G
16g.2496706G>ACA493366988TBC1D24c.558G>A (p.Leu186=)
n.740G>A
dbSNP gnomAD v2 gnomAD v4
16g.2496706G>CCA493366990TBC1D24c.558G>C (p.Leu186=)
n.740G>C
16g.2496706G=CA2202259950TBC1D24c.558G= (p.Leu186=)
n.740G=
16g.2496706G>TCA493366992TBC1D24c.558G>T (p.Leu186=)
n.740G>T
16g.2496707G>ACA394376553TBC1D24c.559G>A (p.Val187Met)
n.741G>A
16g.2496707G>CCA394376555TBC1D24c.559G>C (p.Val187Leu)
n.741G>C
16g.2496707G>TCA394376557TBC1D24c.559G>T (p.Val187Leu)
n.741G>T
16g.2496708T>ACA394376560TBC1D24c.560T>A (p.Val187Glu)
n.742T>A
16g.2496708T>CCA394376562TBC1D24c.560T>C (p.Val187Ala)
n.742T>C
16g.2496708T>GCA394376564TBC1D24c.560T>G (p.Val187Gly)
n.742T>G
16g.2496709G>ACA493366997TBC1D24c.561G>A (p.Val187=)
n.743G>A
16g.2496709G>CCA493366998TBC1D24c.561G>C (p.Val187=)
n.743G>C
16g.2496709G=CA2202259951TBC1D24c.561G= (p.Val187=)
n.743G=
16g.2496709G>TCA493366996TBC1D24c.561G>T (p.Val187=)
n.743G>T
ClinVar dbSNP gnomAD v4
16g.2496710A>CCA394376567TBC1D24c.562A>C (p.Asn188His)
n.744A>C
16g.2496710A>GCA394376568TBC1D24c.562A>G (p.Asn188Asp)
n.744A>G
16g.2496710A>TCA394376570TBC1D24c.562A>T (p.Asn188Tyr)
n.744A>T
16g.2496711A>CCA394376573TBC1D24c.563A>C (p.Asn188Thr)
n.745A>C
16g.2496711A>GCA394376574TBC1D24c.563A>G (p.Asn188Ser)
n.745A>G
16g.2496711A>TCA394376576TBC1D24c.563A>T (p.Asn188Ile)
n.745A>T
gnomAD v4
16g.2496712C>ACA394376580TBC1D24c.564C>A (p.Asn188Lys)
n.746C>A
16g.2496712C>GCA394376579TBC1D24c.564C>G (p.Asn188Lys)
n.746C>G
16g.2496712C>TCA493367002TBC1D24c.564C>T (p.Asn188=)
n.746C>T
16g.2496713A>CCA394376581TBC1D24c.565A>C (p.Lys189Gln)
n.747A>C
16g.2496713A>GCA394376582TBC1D24c.565A>G (p.Lys189Glu)
n.747A>G
16g.2496713A>TCA394376584TBC1D24c.565A>T (p.Lys189Ter)
n.747A>T
16g.2496714A=CA2202259952TBC1D24c.566A= (p.Lys189=)
n.748A=
16g.2496714A>CCA394376587TBC1D24c.566A>C (p.Lys189Thr)
n.748A>C
16g.2496714A>GCA394376589TBC1D24c.566A>G (p.Lys189Arg)
n.748A>G
dbSNP gnomAD v4
16g.2496714A>TCA394376592TBC1D24c.566A>T (p.Lys189Met)
n.748A>T
dbSNP
16g.2496715G>ACA493367007TBC1D24c.567G>A (p.Lys189=)
n.749G>A
gnomAD v4
16g.2496715G>CCA394376594TBC1D24c.567G>C (p.Lys189Asn)
n.749G>C
16g.2496715G>TCA394376596TBC1D24c.567G>T (p.Lys189Asn)
n.749G>T
gnomAD v4
16g.2496716delCA2631210258TBC1D24c.568del (p.Tyr190ThrfsTer8)
n.750del
gnomAD v4
16g.2496716T>ACA394376598TBC1D24c.568T>A (p.Tyr190Asn)
n.750T>A
16g.2496716T>CCA394376600TBC1D24c.568T>C (p.Tyr190His)
n.750T>C
gnomAD v4
16g.2496716T>GCA394376602TBC1D24c.568T>G (p.Tyr190Asp)
n.750T>G
16g.2496717A>CCA394376608TBC1D24c.569A>C (p.Tyr190Ser)
n.751A>C
16g.2496717A>GCA394376606TBC1D24c.569A>G (p.Tyr190Cys)
n.751A>G
16g.2496717A>TCA394376605TBC1D24c.569A>T (p.Tyr190Phe)
n.751A>T
16g.2496718C>ACA394376611TBC1D24c.570C>A (p.Tyr190Ter)
n.752C>A
16g.2496718C=CA2202259953TBC1D24c.570C= (p.Tyr190=)
n.752C=
16g.2496718C>GCA394376613TBC1D24c.570C>G (p.Tyr190Ter)
n.752C>G
16g.2496718C>TCA276809628TBC1D24c.570C>T (p.Tyr190=)
n.752C>T
ClinVar dbSNP gnomAD v4
16g.2496719T>ACA394376615TBC1D24c.571T>A (p.Cys191Ser)
n.753T>A
gnomAD v4
16g.2496719T>CCA394376617TBC1D24c.571T>C (p.Cys191Arg)
n.753T>C
ClinVar
16g.2496719T>GCA394376619TBC1D24c.571T>G (p.Cys191Gly)
n.753T>G
16g.2496720G>ACA394376622TBC1D24c.572G>A (p.Cys191Tyr)
n.754G>A
16g.2496720G>CCA394376623TBC1D24c.572G>C (p.Cys191Ser)
n.754G>C
16g.2496720G>TCA394376625TBC1D24c.572G>T (p.Cys191Phe)
n.754G>T
16g.2496721C>ACA394376627TBC1D24c.573C>A (p.Cys191Ter)
n.755C>A
16g.2496721C>GCA394376629TBC1D24c.573C>G (p.Cys191Trp)
n.755C>G
16g.2496721C>TCA493367015TBC1D24c.573C>T (p.Cys191=)
n.755C>T
COSMIC
16g.2496722C>ACA394376631TBC1D24c.574C>A (p.Gln192Lys)
n.756C>A
16g.2496722C>GCA394376632TBC1D24c.574C>G (p.Gln192Glu)
n.756C>G
gnomAD v4
16g.2496722C>TCA394376633TBC1D24c.574C>T (p.Gln192Ter)
n.756C>T
ClinVar dbSNP
16g.2496723A=CA2202259954TBC1D24c.575A= (p.Gln192=)
n.757A=
16g.2496723A>CCA394376636TBC1D24c.575A>C (p.Gln192Pro)
n.757A>C
16g.2496723A>GCA7844024TBC1D24c.575A>G (p.Gln192Arg)
n.757A>G
dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496723A>TCA394376634TBC1D24c.575A>T (p.Gln192Leu)
n.757A>T
16g.2496724G>ACA493367018TBC1D24c.576G>A (p.Gln192=)
n.758G>A
gnomAD v4
16g.2496724G>CCA394376638TBC1D24c.576G>C (p.Gln192His)
n.758G>C
16g.2496724G>TCA394376640TBC1D24c.576G>T (p.Gln192His)
n.758G>T
16g.2496725G>ACA394376641TBC1D24c.577G>A (p.Ala193Thr)
n.759G>A
16g.2496725G>CCA394376643TBC1D24c.577G>C (p.Ala193Pro)
n.759G>C
16g.2496725G>TCA394376645TBC1D24c.577G>T (p.Ala193Ser)
n.759G>T
16g.2496726C>ACA394376647TBC1D24c.578C>A (p.Ala193Glu)
n.760C>A
gnomAD v4
16g.2496726C=CA2202259955TBC1D24c.578C= (p.Ala193=)
n.760C=
16g.2496726C>GCA394376648TBC1D24c.578C>G (p.Ala193Gly)
n.760C>G
16g.2496726C>TCA319027TBC1D24c.578C>T (p.Ala193Val)
n.760C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496727G>ACA493367022TBC1D24c.579G>A (p.Ala193=)
n.761G>A
dbSNP gnomAD v3 gnomAD v4 COSMIC
16g.2496727G>CCA493367023TBC1D24c.579G>C (p.Ala193=)
n.761G>C
16g.2496727G=CA2202259956TBC1D24c.579G= (p.Ala193=)
n.761G=
16g.2496727G>TCA493367025TBC1D24c.579G>T (p.Ala193=)
n.761G>T
ClinVar dbSNP gnomAD v4
16g.2496728G>ACA394376652TBC1D24c.580G>A (p.Ala194Thr)
n.762G>A
dbSNP gnomAD v2 gnomAD v4
16g.2496728G>CCA394376653TBC1D24c.580G>C (p.Ala194Pro)
n.762G>C
16g.2496728G=CA2202259957TBC1D24c.580G= (p.Ala194=)
n.762G=
16g.2496728G>TCA394376654TBC1D24c.580G>T (p.Ala194Ser)
n.762G>T
16g.2496729C>ACA394376661TBC1D24c.581C>A (p.Ala194Asp)
n.763C>A
16g.2496729C=CA2202259958TBC1D24c.581C= (p.Ala194=)
n.763C=
16g.2496729C>GCA394376659TBC1D24c.581C>G (p.Ala194Gly)
n.763C>G
16g.2496729C>TCA394376657TBC1D24c.581C>T (p.Ala194Val)
n.763C>T
ClinVar dbSNP gnomAD v2

Number of alleles fetched