Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.31524700C>ACA2573155224DSG2n.660-3C>A
c.660-3C>A
c.829-3C>A (n.829-3C>A)
c.295-3C>A (n.295-3C>A)
 ClinVar dbSNP
18g.31524700C=CA2293857284DSG2n.660-3C=
c.660-3C=
c.829-3C= (n.829-3C=)
c.295-3C= (n.295-3C=)
18g.31524700C>TCA778437081DSG2n.660-3C>T
c.660-3C>T
c.829-3C>T (n.829-3C>T)
c.295-3C>T (n.295-3C>T)
 dbSNP
18g.31524701delCA2573054646DSG2n.660-2del
c.660-2del
c.829-2del (n.829-2del)
c.295-2del (n.295-2del)
 dbSNP
18g.31524701A>CCA402135349DSG2n.660-2A>C
c.660-2A>C
c.829-2A>C (n.829-2A>C)
c.295-2A>C (n.295-2A>C)
18g.31524701A>GCA402135350DSG2n.660-2A>G
c.660-2A>G
c.829-2A>G (n.829-2A>G)
c.295-2A>G (n.295-2A>G)
18g.31524701A>TCA402135351DSG2n.660-2A>T
c.660-2A>T
c.829-2A>T (n.829-2A>T)
c.295-2A>T (n.295-2A>T)
 ClinVar dbSNP
18g.31524701_31524709delinsAGCTTGAAGCA2293857286DSG2n.660-2_666delinsAGCTTGAAG
c.660-2_666delinsAGCTTGAAG
c.829-2_835delinsAGCTTGAAG
c.295-2_301delinsAGCTTGAAG
18g.31524701_31524713delinsAGCTTGAAGGGATCA2293857285DSG2n.660-2_670delinsAGCTTGAAGGGAT
c.660-2_670delinsAGCTTGAAGGGAT
c.829-2_839delinsAGCTTGAAGGGAT
c.295-2_305delinsAGCTTGAAGGGAT
18g.31524702G>ACA402135354DSG2n.660-1G>A
c.660-1G>A
c.829-1G>A (n.829-1G>A)
c.295-1G>A (n.295-1G>A)
 ClinVar
18g.31524702G>CCA402135356DSG2n.660-1G>C
c.660-1G>C
c.829-1G>C (n.829-1G>C)
c.295-1G>C (n.295-1G>C)
 gnomAD v4
18g.31524702G>TCA402135357DSG2n.660-1G>T
c.660-1G>T
c.829-1G>T (n.829-1G>T)
c.295-1G>T (n.295-1G>T)
18g.31524703_31524710delCA778437092DSG2n.660_667del
c.660_667del
c.829_836del
c.295_302del
 dbSNP
18g.31524703_31524714delCA022276DSG2n.660_671del
c.660_671del
c.829_840del
c.295_306del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524703_31524715delCA2695227358DSG2n.660_672del
c.660_672del
c.829_841del
c.295_307del
18g.31524703C>ACA402135360DSG2n.660C>A
c.660C>A
c.829C>A (p.Leu277Ile)
c.295C>A (p.Leu99Ile)
18g.31524703C>GCA402135362DSG2n.660C>G
c.660C>G
c.829C>G (p.Leu277Val)
c.295C>G (p.Leu99Val)
18g.31524703C>TCA402135363DSG2n.660C>T
c.660C>T
c.829C>T (p.Leu277Phe)
c.295C>T (p.Leu99Phe)
18g.31524704T>ACA402135367DSG2n.661T>A
c.661T>A
c.830T>A (p.Leu277His)
c.296T>A (p.Leu99His)
18g.31524704T>CCA402135366DSG2n.661T>C
c.661T>C
c.830T>C (p.Leu277Pro)
c.296T>C (p.Leu99Pro)
18g.31524704T>GCA402135364DSG2n.661T>G
c.661T>G
c.830T>G (p.Leu277Arg)
c.296T>G (p.Leu99Arg)
18g.31524705T>ACA503599237DSG2n.662T>A
c.662T>A
c.831T>A (p.Leu277=)
c.297T>A (p.Leu99=)
18g.31524705T>CCA503599238DSG2n.662T>C
c.662T>C
c.831T>C (p.Leu277=)
c.297T>C (p.Leu99=)
 gnomAD v4
18g.31524705T>GCA503599239DSG2n.662T>G
c.662T>G
c.831T>G (p.Leu277=)
c.297T>G (p.Leu99=)
18g.31524706G>ACA402135369DSG2n.663G>A
c.663G>A
c.832G>A (p.Glu278Lys)
c.298G>A (p.Glu100Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31524706G>CCA402135370DSG2n.663G>C
c.663G>C
c.832G>C (p.Glu278Gln)
c.298G>C (p.Glu100Gln)
18g.31524706G=CA2293857295DSG2n.663G=
c.663G=
c.832G= (p.Glu278=)
c.298G= (p.Glu100=)
18g.31524706G>TCA402135372DSG2n.663G>T
c.663G>T
c.832G>T (p.Glu278Ter)
c.298G>T (p.Glu100Ter)
18g.31524707A=CA2293857298DSG2n.664A=
c.664A=
c.833A= (p.Glu278=)
c.299A= (p.Glu100=)
18g.31524707A>CCA402135374DSG2n.664A>C
c.664A>C
c.833A>C (p.Glu278Ala)
c.299A>C (p.Glu100Ala)
18g.31524707A>GCA402135376DSG2n.664A>G
c.664A>G
c.833A>G (p.Glu278Gly)
c.299A>G (p.Glu100Gly)
 gnomAD v4
18g.31524707A>TCA402135377DSG2n.664A>T
c.664A>T
c.833A>T (p.Glu278Val)
c.299A>T (p.Glu100Val)
 dbSNP
18g.31524708A=CA2293857301DSG2n.665A=
c.665A=
c.834A= (p.Glu278=)
c.300A= (p.Glu100=)
18g.31524708A>CCA402135379DSG2n.665A>C
c.665A>C
c.834A>C (p.Glu278Asp)
c.300A>C (p.Glu100Asp)
18g.31524708A>GCA503599241DSG2n.665A>G
c.665A>G
c.834A>G (p.Glu278=)
c.300A>G (p.Glu100=)
 ClinVar dbSNP
18g.31524708A>TCA402135380DSG2n.665A>T
c.665A>T
c.834A>T (p.Glu278Asp)
c.300A>T (p.Glu100Asp)
18g.31524709G>ACA402135381DSG2n.666G>A
c.666G>A
c.835G>A (p.Gly279Arg)
c.301G>A (p.Gly101Arg)
18g.31524709G>CCA402135383DSG2n.666G>C
c.666G>C
c.835G>C (p.Gly279Arg)
c.301G>C (p.Gly101Arg)
18g.31524709G>TCA402135384DSG2n.666G>T
c.666G>T
c.835G>T (p.Gly279Trp)
c.301G>T (p.Gly101Trp)
18g.31524710G>ACA402135385DSG2n.667G>A
c.667G>A
c.836G>A (p.Gly279Glu)
c.302G>A (p.Gly101Glu)
18g.31524710G>CCA402135386DSG2n.667G>C
c.667G>C
c.836G>C (p.Gly279Ala)
c.302G>C (p.Gly101Ala)
18g.31524710G>TCA402135387DSG2n.667G>T
c.667G>T
c.836G>T (p.Gly279Val)
c.302G>T (p.Gly101Val)
18g.31524711G>ACA297732069DSG2n.668G>A
c.668G>A
c.837G>A (p.Gly279=)
c.303G>A (p.Gly101=)
 dbSNP
18g.31524711G>CCA503599243DSG2n.668G>C
c.668G>C
c.837G>C (p.Gly279=)
c.303G>C (p.Gly101=)
18g.31524711G=CA2293857306DSG2n.668G=
c.668G=
c.837G= (p.Gly279=)
c.303G= (p.Gly101=)
18g.31524711G>TCA503599242DSG2n.668G>T
c.668G>T
c.837G>T (p.Gly279=)
c.303G>T (p.Gly101=)
18g.31524712A=CA2293857309DSG2n.669A=
c.669A=
c.838A= (p.Met280=)
c.304A= (p.Met102=)
18g.31524712A>CCA402135389DSG2n.669A>C
c.669A>C
c.838A>C (p.Met280Leu)
c.304A>C (p.Met102Leu)
 ClinVar dbSNP
18g.31524712A>GCA402135390DSG2n.669A>G
c.669A>G
c.838A>G (p.Met280Val)
c.304A>G (p.Met102Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.31524712A>TCA402135388DSG2n.669A>T
c.669A>T
c.838A>T (p.Met280Leu)
c.304A>T (p.Met102Leu)
 gnomAD v4
18g.31524713T>ACA402135392DSG2n.670T>A
c.670T>A
c.839T>A (p.Met280Lys)
c.305T>A (p.Met102Lys)
18g.31524713T>CCA297732071DSG2n.670T>C
c.670T>C
c.839T>C (p.Met280Thr)
c.305T>C (p.Met102Thr)
 ClinVar dbSNP gnomAD v4
18g.31524713T>GCA402135395DSG2n.670T>G
c.670T>G
c.839T>G (p.Met280Arg)
c.305T>G (p.Met102Arg)
18g.31524713T=CA2293857313DSG2n.670T=
c.670T=
c.839T= (p.Met280=)
c.305T= (p.Met102=)
18g.31524714G>ACA402135396DSG2n.671G>A
c.671G>A
c.840G>A (p.Met280Ile)
c.306G>A (p.Met102Ile)
18g.31524714G>CCA402135397DSG2n.671G>C
c.671G>C
c.840G>C (p.Met280Ile)
c.306G>C (p.Met102Ile)
18g.31524714G>TCA402135399DSG2n.671G>T
c.671G>T
c.840G>T (p.Met280Ile)
c.306G>T (p.Met102Ile)
18g.31524715G>ACA022282DSG2n.672G>A
c.672G>A
c.841G>A (p.Val281Ile)
c.307G>A (p.Val103Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524715G>CCA402135402DSG2n.672G>C
c.672G>C
c.841G>C (p.Val281Leu)
c.307G>C (p.Val103Leu)
18g.31524715G=CA2293857317DSG2n.672G=
c.672G=
c.841G= (p.Val281=)
c.307G= (p.Val103=)
18g.31524715G>TCA402135403DSG2n.672G>T
c.672G>T
c.841G>T (p.Val281Phe)
c.307G>T (p.Val103Phe)
18g.31524716T>ACA402135405DSG2n.673T>A
c.673T>A
c.842T>A (p.Val281Asp)
c.308T>A (p.Val103Asp)
18g.31524716T>CCA402135407DSG2n.673T>C
c.673T>C
c.842T>C (p.Val281Ala)
c.308T>C (p.Val103Ala)
 dbSNP gnomAD v4
18g.31524716T>GCA402135408DSG2n.673T>G
c.673T>G
c.842T>G (p.Val281Gly)
c.308T>G (p.Val103Gly)
18g.31524716T=CA2293857322DSG2n.673T=
c.673T=
c.842T= (p.Val281=)
c.308T= (p.Val103=)
18g.31524717T>ACA503599244DSG2n.674T>A
c.674T>A
c.843T>A (p.Val281=)
c.309T>A (p.Val103=)
18g.31524717T>CCA503599245DSG2n.674T>C
c.674T>C
c.843T>C (p.Val281=)
c.309T>C (p.Val103=)
 dbSNP
18g.31524717T>GCA503599246DSG2n.674T>G
c.674T>G
c.843T>G (p.Val281=)
c.309T>G (p.Val103=)
18g.31524717_31524720delinsTGAACA2293857325DSG2n.674_677delinsTGAA
c.674_677delinsTGAA
c.843_846delinsTGAA (p.Val281=)
c.309_312delinsTGAA (p.Val103=)
18g.31524718G>ACA402135413DSG2n.675G>A
c.675G>A
c.844G>A (p.Glu282Lys)
c.310G>A (p.Glu104Lys)
 gnomAD v4
18g.31524718G>CCA402135410DSG2n.675G>C
c.675G>C
c.844G>C (p.Glu282Gln)
c.310G>C (p.Glu104Gln)
18g.31524718G>TCA402135411DSG2n.675G>T
c.675G>T
c.844G>T (p.Glu282Ter)
c.310G>T (p.Glu104Ter)
18g.31524721_31524723delCA778437105DSG2n.678_680del
c.678_680del
c.847_849del (p.Glu283del)
c.313_315del (p.Glu105del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.31524719A>CCA402135415DSG2n.676A>C
c.676A>C
c.845A>C (p.Glu282Ala)
c.311A>C (p.Glu104Ala)
18g.31524719A>GCA402135416DSG2n.676A>G
c.676A>G
c.845A>G (p.Glu282Gly)
c.311A>G (p.Glu104Gly)
 COSMIC
18g.31524719A>TCA402135418DSG2n.676A>T
c.676A>T
c.845A>T (p.Glu282Val)
c.311A>T (p.Glu104Val)
18g.31524720A=CA2293857333DSG2n.677A=
c.677A=
c.846A= (p.Glu282=)
c.312A= (p.Glu104=)
18g.31524720A>CCA402135420DSG2n.677A>C
c.677A>C
c.846A>C (p.Glu282Asp)
c.312A>C (p.Glu104Asp)
18g.31524720A>GCA050254DSG2n.677A>G
c.677A>G
c.846A>G (p.Glu282=)
c.312A>G (p.Glu104=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524720A>TCA402135422DSG2n.677A>T
c.677A>T
c.846A>T (p.Glu282Asp)
c.312A>T (p.Glu104Asp)
18g.31524721G>ACA402135424DSG2n.678G>A
c.678G>A
c.847G>A (p.Glu283Lys)
c.313G>A (p.Glu105Lys)
 dbSNP gnomAD v4 COSMIC
18g.31524721G>CCA402135425DSG2n.678G>C
c.678G>C
c.847G>C (p.Glu283Gln)
c.313G>C (p.Glu105Gln)
18g.31524721G>TCA402135427DSG2n.678G>T
c.678G>T
c.847G>T (p.Glu283Ter)
c.313G>T (p.Glu105Ter)
18g.31524722A>CCA402135429DSG2n.679A>C
c.679A>C
c.848A>C (p.Glu283Ala)
c.314A>C (p.Glu105Ala)
18g.31524722A>GCA402135431DSG2n.679A>G
c.679A>G
c.848A>G (p.Glu283Gly)
c.314A>G (p.Glu105Gly)
18g.31524722A>TCA402135432DSG2n.679A>T
c.679A>T
c.848A>T (p.Glu283Val)
c.314A>T (p.Glu105Val)
18g.31524723A>CCA402135434DSG2n.680A>C
c.680A>C
c.849A>C (p.Glu283Asp)
c.315A>C (p.Glu105Asp)
18g.31524723A>GCA503599247DSG2n.680A>G
c.680A>G
c.849A>G (p.Glu283=)
c.315A>G (p.Glu105=)
18g.31524723A>TCA402135435DSG2n.680A>T
c.680A>T
c.849A>T (p.Glu283Asp)
c.315A>T (p.Glu105Asp)
18g.31524723_31524727delinsAAATCCA2293857336DSG2n.680_684delinsAAATC
c.680_684delinsAAATC
c.849_853delinsAAATC (p.Glu283=)
c.315_319delinsAAATC (p.Glu105=)
18g.31524724A>CCA402135437DSG2n.681A>C
c.681A>C
c.850A>C (p.Asn284His)
c.316A>C (p.Asn106His)
18g.31524724A>GCA402135440DSG2n.681A>G
c.681A>G
c.850A>G (p.Asn284Asp)
c.316A>G (p.Asn106Asp)
18g.31524724A>TCA402135439DSG2n.681A>T
c.681A>T
c.850A>T (p.Asn284Tyr)
c.316A>T (p.Asn106Tyr)
18g.31524726_31524729delCA778437111DSG2n.683_686del
c.683_686del
c.852_855del (p.Asn284LysfsTer4)
c.318_321del (p.Asn106LysfsTer4)
 dbSNP gnomAD v4
18g.31524725A>CCA402135442DSG2n.682A>C
c.682A>C
c.851A>C (p.Asn284Thr)
c.317A>C (p.Asn106Thr)
18g.31524725A>GCA402135445DSG2n.682A>G
c.682A>G
c.851A>G (p.Asn284Ser)
c.317A>G (p.Asn106Ser)
18g.31524725A>TCA402135443DSG2n.682A>T
c.682A>T
c.851A>T (p.Asn284Ile)
c.317A>T (p.Asn106Ile)
18g.31524726T>ACA402135447DSG2n.683T>A
c.683T>A
c.852T>A (p.Asn284Lys)
c.318T>A (p.Asn106Lys)
18g.31524726T>CCA022294DSG2n.683T>C
c.683T>C
c.852T>C (p.Asn284=)
c.318T>C (p.Asn106=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524726T>GCA402135448DSG2n.683T>G
c.683T>G
c.852T>G (p.Asn284Lys)
c.318T>G (p.Asn106Lys)
18g.31524726T=CA2293856781DSG2n.683T=
c.683T=
c.852T= (p.Asn284=)
c.318T= (p.Asn106=)
18g.31524727C>ACA402135450DSG2n.684C>A
c.684C>A
c.853C>A (p.Gln285Lys)
c.319C>A (p.Gln107Lys)
18g.31524727C=CA2293856788DSG2n.684C=
c.684C=
c.853C= (p.Gln285=)
c.319C= (p.Gln107=)
18g.31524727C>GCA050276DSG2n.684C>G
c.684C>G
c.853C>G (p.Gln285Glu)
c.319C>G (p.Gln107Glu)
 ClinVar dbSNP ExAC gnomAD v2
18g.31524727C>TCA402135451DSG2n.684C>T
c.684C>T
c.853C>T (p.Gln285Ter)
c.319C>T (p.Gln107Ter)
 ClinVar gnomAD v4
18g.31524728A=CA2293856790DSG2n.685A=
c.685A=
c.854A= (p.Gln285=)
c.320A= (p.Gln107=)
18g.31524728A>CCA402135455DSG2n.685A>C
c.685A>C
c.854A>C (p.Gln285Pro)
c.320A>C (p.Gln107Pro)
18g.31524728A>GCA402135456DSG2n.685A>G
c.685A>G
c.854A>G (p.Gln285Arg)
c.320A>G (p.Gln107Arg)
18g.31524728A>TCA050287DSG2n.685A>T
c.685A>T
c.854A>T (p.Gln285Leu)
c.320A>T (p.Gln107Leu)
 dbSNP ExAC gnomAD v2
18g.31524729A=CA2293856795DSG2n.686A=
c.686A=
c.855A= (p.Gln285=)
c.321A= (p.Gln107=)
18g.31524729A>CCA402135457DSG2n.686A>C
c.686A>C
c.855A>C (p.Gln285His)
c.321A>C (p.Gln107His)
18g.31524729A>GCA503599248DSG2n.686A>G
c.686A>G
c.855A>G (p.Gln285=)
c.321A>G (p.Gln107=)
 dbSNP gnomAD v2 gnomAD v4
18g.31524729A>TCA402135459DSG2n.686A>T
c.686A>T
c.855A>T (p.Gln285His)
c.321A>T (p.Gln107His)
18g.31524730G>ACA402135461DSG2n.687G>A
c.687G>A
c.856G>A (p.Val286Ile)
c.322G>A (p.Val108Ile)
 ClinVar dbSNP
18g.31524730G>CCA402135462DSG2n.687G>C
c.687G>C
c.856G>C (p.Val286Leu)
c.322G>C (p.Val108Leu)
18g.31524730G=CA2293856797DSG2n.687G=
c.687G=
c.856G= (p.Val286=)
c.322G= (p.Val108=)
18g.31524730G>TCA402135463DSG2n.687G>T
c.687G>T
c.856G>T (p.Val286Phe)
c.322G>T (p.Val108Phe)
18g.31524731T>ACA402135465DSG2n.688T>A
c.688T>A
c.857T>A (p.Val286Asp)
c.323T>A (p.Val108Asp)
18g.31524731T>CCA402135467DSG2n.688T>C
c.688T>C
c.857T>C (p.Val286Ala)
c.323T>C (p.Val108Ala)
18g.31524731T>GCA402135468DSG2n.688T>G
c.688T>G
c.857T>G (p.Val286Gly)
c.323T>G (p.Val108Gly)
18g.31524732C>ACA503599249DSG2n.689C>A
c.689C>A
c.858C>A (p.Val286=)
c.324C>A (p.Val108=)
18g.31524732C=CA2293856803DSG2n.689C=
c.689C=
c.858C= (p.Val286=)
c.324C= (p.Val108=)
18g.31524732C>GCA503599250DSG2n.689C>G
c.689C>G
c.858C>G (p.Val286=)
c.324C>G (p.Val108=)
18g.31524732C>TCA503599251DSG2n.689C>T
c.689C>T
c.858C>T (p.Val286=)
c.324C>T (p.Val108=)
 ClinVar dbSNP gnomAD v4
18g.31524733A>CCA402135470DSG2n.690A>C
c.690A>C
c.859A>C (p.Asn287His)
c.325A>C (p.Asn109His)
18g.31524733A>GCA402135471DSG2n.690A>G
c.690A>G
c.859A>G (p.Asn287Asp)
c.325A>G (p.Asn109Asp)
18g.31524733A>TCA402135472DSG2n.690A>T
c.690A>T
c.859A>T (p.Asn287Tyr)
c.325A>T (p.Asn109Tyr)
18g.31524734dupCA988921017DSG2n.691dup
c.691dup
c.860dup (p.Asn287LysfsTer14)
c.326dup (p.Asn109LysfsTer14)
 dbSNP gnomAD v3 gnomAD v4
18g.31524734A=CA2293856809DSG2n.691A=
c.691A=
c.860A= (p.Asn287=)
c.326A= (p.Asn109=)
18g.31524734A>CCA402135477DSG2n.691A>C
c.691A>C
c.860A>C (p.Asn287Thr)
c.326A>C (p.Asn109Thr)
18g.31524734A>GCA402135475DSG2n.691A>G
c.691A>G
c.860A>G (p.Asn287Ser)
c.326A>G (p.Asn109Ser)
 dbSNP gnomAD v2 gnomAD v4
18g.31524734A>TCA402135473DSG2n.691A>T
c.691A>T
c.860A>T (p.Asn287Ile)
c.326A>T (p.Asn109Ile)
 gnomAD v4
18g.31524735C>ACA402135478DSG2n.692C>A
c.692C>A
c.861C>A (p.Asn287Lys)
c.327C>A (p.Asn109Lys)
18g.31524735C=CA2293856815DSG2n.692C=
c.692C=
c.861C= (p.Asn287=)
c.327C= (p.Asn109=)
18g.31524735C>GCA402135479DSG2n.692C>G
c.692C>G
c.861C>G (p.Asn287Lys)
c.327C>G (p.Asn109Lys)
18g.31524735C>TCA022299DSG2n.692C>T
c.692C>T
c.861C>T (p.Asn287=)
c.327C>T (p.Asn109=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524735_31524736delinsTCCA2573054647DSG2n.692_693delinsTC
c.692_693delinsTC
c.861_862delinsTC (p.Val288Leu)
c.327_328delinsTC (p.Val110Leu)
 ClinVar dbSNP
18g.31524735_31524737delinsCGTCA2293856819DSG2n.692_694delinsCGT
c.692_694delinsCGT
c.861_863delinsCGT (p.Asn287=)
c.327_329delinsCGT (p.Asn109=)
18g.31524735_31524737delinsTGGCA913188926DSG2n.692_694delinsTGG
c.692_694delinsTGG
c.861_863delinsTGG (p.Val288Gly)
c.327_329delinsTGG (p.Val110Gly)
 ClinVar dbSNP
18g.31524736G>ACA022303DSG2n.693G>A
c.693G>A
c.862G>A (p.Val288Ile)
c.328G>A (p.Val110Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524736G>CCA402135482DSG2n.693G>C
c.693G>C
c.862G>C (p.Val288Leu)
c.328G>C (p.Val110Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31524736G=CA2293856828DSG2n.693G=
c.693G=
c.862G= (p.Val288=)
c.328G= (p.Val110=)
18g.31524736G>TCA402135483DSG2n.693G>T
c.693G>T
c.862G>T (p.Val288Leu)
c.328G>T (p.Val110Leu)
18g.31524737T>ACA402135484DSG2n.694T>A
c.694T>A
c.863T>A (p.Val288Glu)
c.329T>A (p.Val110Glu)
18g.31524737T>CCA402135486DSG2n.694T>C
c.694T>C
c.863T>C (p.Val288Ala)
c.329T>C (p.Val110Ala)
18g.31524737T>GCA050316DSG2n.694T>G
c.694T>G
c.863T>G (p.Val288Gly)
c.329T>G (p.Val110Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524737T=CA2293856832DSG2n.694T=
c.694T=
c.863T= (p.Val288=)
c.329T= (p.Val110=)
18g.31524738A>CCA503599254DSG2n.695A>C
c.695A>C
c.864A>C (p.Val288=)
c.330A>C (p.Val110=)
18g.31524738A>GCA503599253DSG2n.695A>G
c.695A>G
c.864A>G (p.Val288=)
c.330A>G (p.Val110=)
 gnomAD v4
18g.31524738A>TCA503599252DSG2n.695A>T
c.695A>T
c.864A>T (p.Val288=)
c.330A>T (p.Val110=)
 ClinVar
18g.31524739G>ACA402135488DSG2n.696G>A
c.696G>A
c.865G>A (p.Glu289Lys)
c.331G>A (p.Glu111Lys)
 gnomAD v4
18g.31524739G>CCA402135490DSG2n.696G>C
c.696G>C
c.865G>C (p.Glu289Gln)
c.331G>C (p.Glu111Gln)
18g.31524739G>TCA402135491DSG2n.696G>T
c.696G>T
c.865G>T (p.Glu289Ter)
c.331G>T (p.Glu111Ter)
18g.31524740A>CCA402135496DSG2n.697A>C
c.697A>C
c.866A>C (p.Glu289Ala)
c.332A>C (p.Glu111Ala)
18g.31524740A>GCA402135495DSG2n.697A>G
c.697A>G
c.866A>G (p.Glu289Gly)
c.332A>G (p.Glu111Gly)
18g.31524740A>TCA402135494DSG2n.697A>T
c.697A>T
c.866A>T (p.Glu289Val)
c.332A>T (p.Glu111Val)
 gnomAD v4
18g.31524741A>CCA402135500DSG2n.698A>C
c.698A>C
c.867A>C (p.Glu289Asp)
c.333A>C (p.Glu111Asp)
18g.31524741A>GCA503599255DSG2n.698A>G
c.698A>G
c.867A>G (p.Glu289=)
c.333A>G (p.Glu111=)
18g.31524741A>TCA402135499DSG2n.698A>T
c.698A>T
c.867A>T (p.Glu289Asp)
c.333A>T (p.Glu111Asp)
 ClinVar dbSNP
18g.31524742G>ACA402135501DSG2n.699G>A
c.699G>A
c.868G>A (p.Val290Ile)
c.334G>A (p.Val112Ile)
18g.31524742G>CCA402135503DSG2n.699G>C
c.699G>C
c.868G>C (p.Val290Leu)
c.334G>C (p.Val112Leu)
18g.31524742G>TCA402135505DSG2n.699G>T
c.699G>T
c.868G>T (p.Val290Phe)
c.334G>T (p.Val112Phe)
18g.31524743T>ACA402135506DSG2n.700T>A
c.700T>A
c.869T>A (p.Val290Asp)
c.335T>A (p.Val112Asp)
18g.31524743T>CCA402135508DSG2n.700T>C
c.700T>C
c.869T>C (p.Val290Ala)
c.335T>C (p.Val112Ala)
18g.31524743T>GCA402135510DSG2n.700T>G
c.700T>G
c.869T>G (p.Val290Gly)
c.335T>G (p.Val112Gly)
 ClinVar dbSNP
18g.31524744T>ACA503599256DSG2n.701T>A
c.701T>A
c.870T>A (p.Val290=)
c.336T>A (p.Val112=)
18g.31524744T>CCA050329DSG2n.701T>C
c.701T>C
c.870T>C (p.Val290=)
c.336T>C (p.Val112=)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.31524744T>GCA503599257DSG2n.701T>G
c.701T>G
c.870T>G (p.Val290=)
c.336T>G (p.Val112=)
18g.31524744T=CA2293856833DSG2n.701T=
c.701T=
c.870T= (p.Val290=)
c.336T= (p.Val112=)
18g.31524745A>CCA402135512DSG2n.702A>C
c.702A>C
c.871A>C (p.Thr291Pro)
c.337A>C (p.Thr113Pro)
18g.31524745A>GCA402135514DSG2n.702A>G
c.702A>G
c.871A>G (p.Thr291Ala)
c.337A>G (p.Thr113Ala)
18g.31524745A>TCA402135516DSG2n.702A>T
c.702A>T
c.871A>T (p.Thr291Ser)
c.337A>T (p.Thr113Ser)
18g.31524745dupCA297732146DSG2n.702dup
c.702dup
c.871dup (p.Thr291AsnfsTer10)
c.337dup (p.Thr113AsnfsTer10)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.31524746C>ACA402135518DSG2n.703C>A
c.703C>A
c.872C>A (p.Thr291Lys)
c.338C>A (p.Thr113Lys)
18g.31524746C=CA2293856839DSG2n.703C=
c.703C=
c.872C= (p.Thr291=)
c.338C= (p.Thr113=)
18g.31524746C>GCA402135519DSG2n.703C>G
c.703C>G
c.872C>G (p.Thr291Arg)
c.338C>G (p.Thr113Arg)
 dbSNP gnomAD v2 gnomAD v4
18g.31524746C>TCA050339DSG2n.703C>T
c.703C>T
c.872C>T (p.Thr291Met)
c.338C>T (p.Thr113Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524747G>ACA050346DSG2n.704G>A
c.704G>A
c.873G>A (p.Thr291=)
c.339G>A (p.Thr113=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
18g.31524747G>CCA503599258DSG2n.704G>C
c.704G>C
c.873G>C (p.Thr291=)
c.339G>C (p.Thr113=)
 ClinVar dbSNP
18g.31524747G=CA2293856843DSG2n.704G=
c.704G=
c.873G= (p.Thr291=)
c.339G= (p.Thr113=)
18g.31524747G>TCA503599259DSG2n.704G>T
c.704G>T
c.873G>T (p.Thr291=)
c.339G>T (p.Thr113=)
18g.31524748C>ACA402135522DSG2n.705C>A
c.705C>A
c.874C>A (p.Arg292Ser)
c.340C>A (p.Arg114Ser)
18g.31524748C=CA2293856846DSG2n.705C=
c.705C=
c.874C= (p.Arg292=)
c.340C= (p.Arg114=)
18g.31524748C>GCA402135523DSG2n.705C>G
c.705C>G
c.874C>G (p.Arg292Gly)
c.340C>G (p.Arg114Gly)
18g.31524748C>TCA050352DSG2n.705C>T
c.705C>T
c.874C>T (p.Arg292Cys)
c.340C>T (p.Arg114Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
18g.31524749G>ACA022326DSG2n.706G>A
c.706G>A
c.875G>A (p.Arg292His)
c.341G>A (p.Arg114His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524749G>CCA402135527DSG2n.706G>C
c.706G>C
c.875G>C (p.Arg292Pro)
c.341G>C (p.Arg114Pro)
18g.31524749G=CA2293856851DSG2n.706G=
c.706G=
c.875G= (p.Arg292=)
c.341G= (p.Arg114=)
18g.31524749G>TCA022332DSG2n.706G>T
c.706G>T
c.875G>T (p.Arg292Leu)
c.341G>T (p.Arg114Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31524750C>ACA503599260DSG2n.707C>A
c.707C>A
c.876C>A (p.Arg292=)
c.342C>A (p.Arg114=)
18g.31524750C=CA2293856856DSG2n.707C=
c.707C=
c.876C= (p.Arg292=)
c.342C= (p.Arg114=)
18g.31524750C>GCA503599261DSG2n.707C>G
c.707C>G
c.876C>G (p.Arg292=)
c.342C>G (p.Arg114=)
18g.31524750C>TCA503599262DSG2n.707C>T
c.707C>T
c.876C>T (p.Arg292=)
c.342C>T (p.Arg114=)
 dbSNP gnomAD v4
18g.31524750_31524751delinsTGCA2739268639DSG2n.707_708delinsTG
c.707_708delinsTG
c.876_877delinsTG (p.Ile293Val)
c.342_343delinsTG (p.Ile115Val)
 ClinVar
18g.31524751A=CA2293856862DSG2n.708A=
c.708A=
c.877A= (p.Ile293=)
c.343A= (p.Ile115=)
18g.31524751A>CCA402135529DSG2n.708A>C
c.708A>C
c.877A>C (p.Ile293Leu)
c.343A>C (p.Ile115Leu)
18g.31524751A>GCA022337DSG2n.708A>G
c.708A>G
c.877A>G (p.Ile293Val)
c.343A>G (p.Ile115Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524751A>TCA022342DSG2n.708A>T
c.708A>T
c.877A>T (p.Ile293Leu)
c.343A>T (p.Ile115Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524752T>ACA402135532DSG2n.709T>A
c.709T>A
c.878T>A (p.Ile293Lys)
c.344T>A (p.Ile115Lys)
 gnomAD v4
18g.31524752T>CCA402135534DSG2n.709T>C
c.709T>C
c.878T>C (p.Ile293Thr)
c.344T>C (p.Ile115Thr)
18g.31524752T>GCA402135535DSG2n.709T>G
c.709T>G
c.878T>G (p.Ile293Arg)
c.344T>G (p.Ile115Arg)
18g.31524752T=CA2293856867DSG2n.709T=
c.709T=
c.878T= (p.Ile293=)
c.344T= (p.Ile115=)
18g.31524753A=CA2293856871DSG2n.710A=
c.710A=
c.879A= (p.Ile293=)
c.345A= (p.Ile115=)
18g.31524753A>CCA503599263DSG2n.710A>C
c.710A>C
c.879A>C (p.Ile293=)
c.345A>C (p.Ile115=)
18g.31524753A>GCA402135537DSG2n.710A>G
c.710A>G
c.879A>G (p.Ile293Met)
c.345A>G (p.Ile115Met)
 dbSNP gnomAD v2 gnomAD v4
18g.31524753A>TCA503599264DSG2n.710A>T
c.710A>T
c.879A>T (p.Ile293=)
c.345A>T (p.Ile115=)
18g.31524756dupCA629453638DSG2n.713dup
c.713dup
c.882dup (p.Val295SerfsTer6)
c.348dup (p.Val117SerfsTer6)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31524754A=CA2293856880DSG2n.711A=
c.711A=
c.880A= (p.Lys294=)
c.346A= (p.Lys116=)
18g.31524754A>CCA402135541DSG2n.711A>C
c.711A>C
c.880A>C (p.Lys294Gln)
c.346A>C (p.Lys116Gln)
 dbSNP gnomAD v2 gnomAD v4
18g.31524754A>GCA022347DSG2n.711A>G
c.711A>G
c.880A>G (p.Lys294Glu)
c.346A>G (p.Lys116Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524754A>TCA402135539DSG2n.711A>T
c.711A>T
c.880A>T (p.Lys294Ter)
c.346A>T (p.Lys116Ter)
18g.31524755A=CA2293856883DSG2n.712A=
c.712A=
c.881A= (p.Lys294=)
c.347A= (p.Lys116=)
18g.31524755A>CCA402135543DSG2n.712A>C
c.712A>C
c.881A>C (p.Lys294Thr)
c.347A>C (p.Lys116Thr)
 dbSNP gnomAD v2 gnomAD v4
18g.31524755A>GCA402135546DSG2n.712A>G
c.712A>G
c.881A>G (p.Lys294Arg)
c.347A>G (p.Lys116Arg)
18g.31524755A>TCA402135545DSG2n.712A>T
c.712A>T
c.881A>T (p.Lys294Ile)
c.347A>T (p.Lys116Ile)
 ClinVar dbSNP
18g.31524756A=CA2293856886DSG2n.713A=
c.713A=
c.882A= (p.Lys294=)
c.348A= (p.Lys116=)
18g.31524756A>CCA402135549DSG2n.713A>C
c.713A>C
c.882A>C (p.Lys294Asn)
c.348A>C (p.Lys116Asn)
18g.31524756A>GCA503599265DSG2n.713A>G
c.713A>G
c.882A>G (p.Lys294=)
c.348A>G (p.Lys116=)
 dbSNP
18g.31524756A>TCA402135550DSG2n.713A>T
c.713A>T
c.882A>T (p.Lys294Asn)
c.348A>T (p.Lys116Asn)
18g.31524757G>ACA402135552DSG2n.714G>A
c.714G>A
c.883G>A (p.Val295Met)
c.349G>A (p.Val117Met)
18g.31524757G>CCA402135557DSG2n.714G>C
c.714G>C
c.883G>C (p.Val295Leu)
c.349G>C (p.Val117Leu)
18g.31524757G>TCA402135559DSG2n.714G>T
c.714G>T
c.883G>T (p.Val295Leu)
c.349G>T (p.Val117Leu)
18g.31524758T>ACA402135561DSG2n.715T>A
c.715T>A
c.884T>A (p.Val295Glu)
c.350T>A (p.Val117Glu)
18g.31524758T>CCA050408DSG2n.715T>C
c.715T>C
c.884T>C (p.Val295Ala)
c.350T>C (p.Val117Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524758T>GCA402135563DSG2n.715T>G
c.715T>G
c.884T>G (p.Val295Gly)
c.350T>G (p.Val117Gly)
18g.31524758T=CA2293856888DSG2n.715T=
c.715T=
c.884T= (p.Val295=)
c.350T= (p.Val117=)
18g.31524759G>ACA503599266DSG2n.716G>A
c.716G>A
c.885G>A (p.Val295=)
c.351G>A (p.Val117=)
 ClinVar dbSNP
18g.31524759G>CCA503599267DSG2n.716G>C
c.716G>C
c.885G>C (p.Val295=)
c.351G>C (p.Val117=)
18g.31524759G=CA2293856895DSG2n.716G=
c.716G=
c.885G= (p.Val295=)
c.351G= (p.Val117=)
18g.31524759G>TCA050421DSG2n.716G>T
c.716G>T
c.885G>T (p.Val295=)
c.351G>T (p.Val117=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524760T>ACA402135566DSG2n.717T>A
c.717T>A
c.886T>A (p.Phe296Ile)
c.352T>A (p.Phe118Ile)
18g.31524760T>CCA402135567DSG2n.717T>C
c.717T>C
c.886T>C (p.Phe296Leu)
c.352T>C (p.Phe118Leu)
18g.31524760T>GCA402135569DSG2n.717T>G
c.717T>G
c.886T>G (p.Phe296Val)
c.352T>G (p.Phe118Val)
 dbSNP
18g.31524760T=CA2293856898DSG2n.717T=
c.717T=
c.886T= (p.Phe296=)
c.352T= (p.Phe118=)
18g.31524761T>ACA402135574DSG2n.718T>A
c.718T>A
c.887T>A (p.Phe296Tyr)
c.353T>A (p.Phe118Tyr)
18g.31524761T>CCA402135571DSG2n.718T>C
c.718T>C
c.887T>C (p.Phe296Ser)
c.353T>C (p.Phe118Ser)
18g.31524761T>GCA402135573DSG2n.718T>G
c.718T>G
c.887T>G (p.Phe296Cys)
c.353T>G (p.Phe118Cys)
18g.31524762C>ACA402135576DSG2n.719C>A
c.719C>A
c.888C>A (p.Phe296Leu)
c.354C>A (p.Phe118Leu)
18g.31524762C=CA2293856905DSG2n.719C=
c.719C=
c.888C= (p.Phe296=)
c.354C= (p.Phe118=)
18g.31524762C>GCA402135577DSG2n.719C>G
c.719C>G
c.888C>G (p.Phe296Leu)
c.354C>G (p.Phe118Leu)
 ClinVar gnomAD v4
18g.31524762C>TCA297732230DSG2n.719C>T
c.719C>T
c.888C>T (p.Phe296=)
c.354C>T (p.Phe118=)
 ClinVar dbSNP gnomAD v4
18g.31524762_31524768delinsCGATGCACA2293856901DSG2n.719_725delinsCGATGCA
c.719_725delinsCGATGCA
c.888_894delinsCGATGCA (p.Phe296=)
c.354_360delinsCGATGCA (p.Phe118=)
18g.31524763G>ACA022349DSG2n.720G>A
c.720G>A
c.889G>A (p.Asp297Asn)
c.355G>A (p.Asp119Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524763G>CCA402135579DSG2n.720G>C
c.720G>C
c.889G>C (p.Asp297His)
c.355G>C (p.Asp119His)
18g.31524763G=CA2293856910DSG2n.720G=
c.720G=
c.889G= (p.Asp297=)
c.355G= (p.Asp119=)
18g.31524763G>TCA402135581DSG2n.720G>T
c.720G>T
c.889G>T (p.Asp297Tyr)
c.355G>T (p.Asp119Tyr)
18g.31524767_31524772delCA629453640DSG2n.724_729del
c.724_729del
c.893_898del (p.Ala298_Asp299del)
c.359_364del (p.Ala120_Asp121del)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.31524764A=CA2293856914DSG2n.721A=
c.721A=
c.890A= (p.Asp297=)
c.356A= (p.Asp119=)
18g.31524764A>CCA402135582DSG2n.721A>C
c.721A>C
c.890A>C (p.Asp297Ala)
c.356A>C (p.Asp119Ala)
18g.31524764A>GCA402135583DSG2n.721A>G
c.721A>G
c.890A>G (p.Asp297Gly)
c.356A>G (p.Asp119Gly)
 dbSNP
18g.31524764A>TCA402135585DSG2n.721A>T
c.721A>T
c.890A>T (p.Asp297Val)
c.356A>T (p.Asp119Val)
 ClinVar dbSNP
18g.31524765T>ACA402135586DSG2n.722T>A
c.722T>A
c.891T>A (p.Asp297Glu)
c.357T>A (p.Asp119Glu)
18g.31524765T>CCA503599268DSG2n.722T>C
c.722T>C
c.891T>C (p.Asp297=)
c.357T>C (p.Asp119=)
 ClinVar dbSNP gnomAD v2
18g.31524765T>GCA402135588DSG2n.722T>G
c.722T>G
c.891T>G (p.Asp297Glu)
c.357T>G (p.Asp119Glu)
18g.31524765T=CA2293856919DSG2n.722T=
c.722T=
c.891T= (p.Asp297=)
c.357T= (p.Asp119=)
18g.31524766G>ACA297732266DSG2n.723G>A
c.723G>A
c.892G>A (p.Ala298Thr)
c.358G>A (p.Ala120Thr)
 dbSNP
18g.31524766G>CCA402135592DSG2n.723G>C
c.723G>C
c.892G>C (p.Ala298Pro)
c.358G>C (p.Ala120Pro)
18g.31524766G=CA2293856921DSG2n.723G=
c.723G=
c.892G= (p.Ala298=)
c.358G= (p.Ala120=)
18g.31524766G>TCA402135590DSG2n.723G>T
c.723G>T
c.892G>T (p.Ala298Ser)
c.358G>T (p.Ala120Ser)
 dbSNP gnomAD v2 gnomAD v4
18g.31524767C>ACA402135594DSG2n.724C>A
c.724C>A
c.893C>A (p.Ala298Glu)
c.359C>A (p.Ala120Glu)
 gnomAD v4
18g.31524767C=CA2293856927DSG2n.724C=
c.724C=
c.893C= (p.Ala298=)
c.359C= (p.Ala120=)
18g.31524767C>GCA402135596DSG2n.724C>G
c.724C>G
c.893C>G (p.Ala298Gly)
c.359C>G (p.Ala120Gly)
 ClinVar dbSNP
18g.31524767C>TCA402135597DSG2n.724C>T
c.724C>T
c.893C>T (p.Ala298Val)
c.359C>T (p.Ala120Val)
 dbSNP gnomAD v2 gnomAD v4
18g.31524768A>CCA503599269DSG2n.725A>C
c.725A>C
c.894A>C (p.Ala298=)
c.360A>C (p.Ala120=)
 gnomAD v4
18g.31524768A>GCA503599270DSG2n.725A>G
c.725A>G
c.894A>G (p.Ala298=)
c.360A>G (p.Ala120=)
 gnomAD v4
18g.31524768A>TCA503599271DSG2n.725A>T
c.725A>T
c.894A>T (p.Ala298=)
c.360A>T (p.Ala120=)
18g.31524769G>ACA297732272DSG2n.726G>A
c.726G>A
c.895G>A (p.Asp299Asn)
c.361G>A (p.Asp121Asn)
 dbSNP
18g.31524769G>CCA402135600DSG2n.726G>C
c.726G>C
c.895G>C (p.Asp299His)
c.361G>C (p.Asp121His)
18g.31524769G=CA2293856931DSG2n.726G=
c.726G=
c.895G= (p.Asp299=)
c.361G= (p.Asp121=)
18g.31524769G>TCA402135602DSG2n.726G>T
c.726G>T
c.895G>T (p.Asp299Tyr)
c.361G>T (p.Asp121Tyr)
18g.31524770A=CA2293856933DSG2n.727A=
c.727A=
c.896A= (p.Asp299=)
c.362A= (p.Asp121=)
18g.31524770A>CCA402135608DSG2n.727A>C
c.727A>C
c.896A>C (p.Asp299Ala)
c.362A>C (p.Asp121Ala)
 dbSNP
18g.31524770A>GCA402135604DSG2n.727A>G
c.727A>G
c.896A>G (p.Asp299Gly)
c.362A>G (p.Asp121Gly)
18g.31524770A>TCA402135606DSG2n.727A>T
c.727A>T
c.896A>T (p.Asp299Val)
c.362A>T (p.Asp121Val)
18g.31524771T>ACA402135609DSG2n.728T>A
c.728T>A
c.897T>A (p.Asp299Glu)
c.363T>A (p.Asp121Glu)
18g.31524771T>CCA503599272DSG2n.728T>C
c.728T>C
c.897T>C (p.Asp299=)
c.363T>C (p.Asp121=)
 gnomAD v4
18g.31524771T>GCA402135611DSG2n.728T>G
c.728T>G
c.897T>G (p.Asp299Glu)
c.363T>G (p.Asp121Glu)
18g.31524772G>ACA297732277DSG2n.729G>A
c.729G>A
c.898G>A (p.Glu300Lys)
c.364G>A (p.Glu122Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31524772G>CCA402135613DSG2n.729G>C
c.729G>C
c.898G>C (p.Glu300Gln)
c.364G>C (p.Glu122Gln)
18g.31524772G=CA2293856935DSG2n.729G=
c.729G=
c.898G= (p.Glu300=)
c.364G= (p.Glu122=)
18g.31524772G>TCA402135614DSG2n.729G>T
c.729G>T
c.898G>T (p.Glu300Ter)
c.364G>T (p.Glu122Ter)
18g.31524773A>CCA402135615DSG2n.730A>C
c.730A>C
c.899A>C (p.Glu300Ala)
c.365A>C (p.Glu122Ala)
18g.31524773A>GCA402135619DSG2n.730A>G
c.730A>G
c.899A>G (p.Glu300Gly)
c.365A>G (p.Glu122Gly)
18g.31524773A>TCA402135617DSG2n.730A>T
c.730A>T
c.899A>T (p.Glu300Val)
c.365A>T (p.Glu122Val)
18g.31524775delCA2641406234DSG2n.732del
c.732del
c.901del (p.Ile301Ter)
c.367del (p.Ile123Ter)
 gnomAD v4
18g.31524774A>CCA402135621DSG2n.731A>C
c.731A>C
c.900A>C (p.Glu300Asp)
c.366A>C (p.Glu122Asp)
18g.31524774A>GCA503599273DSG2n.731A>G
c.731A>G
c.900A>G (p.Glu300=)
c.366A>G (p.Glu122=)
18g.31524774A>TCA402135622DSG2n.731A>T
c.731A>T
c.900A>T (p.Glu300Asp)
c.366A>T (p.Glu122Asp)
18g.31524775A=CA2293856940DSG2n.732A=
c.732A=
c.901A= (p.Ile301=)
c.367A= (p.Ile123=)
18g.31524775A>CCA402135623DSG2n.732A>C
c.732A>C
c.901A>C (p.Ile301Leu)
c.367A>C (p.Ile123Leu)
18g.31524775A>GCA402135624DSG2n.732A>G
c.732A>G
c.901A>G (p.Ile301Val)
c.367A>G (p.Ile123Val)
18g.31524775A>TCA402135625DSG2n.732A>T
c.732A>T
c.901A>T (p.Ile301Leu)
c.367A>T (p.Ile123Leu)
 ClinVar dbSNP gnomAD v4
18g.31524775_31524776delinsATCA2293856939DSG2n.732_733delinsAT
c.732_733delinsAT
c.901_902delinsAT (p.Ile301=)
c.367_368delinsAT (p.Ile123=)
18g.31524776delCA050440DSG2n.733del
c.733del
c.902del (p.Ile301LysfsTer23)
c.368del (p.Ile123LysfsTer23)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.31524776T>ACA402135626DSG2n.733T>A
c.733T>A
c.902T>A (p.Ile301Lys)
c.368T>A (p.Ile123Lys)
18g.31524776T>CCA402135627DSG2n.733T>C
c.733T>C
c.902T>C (p.Ile301Thr)
c.368T>C (p.Ile123Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31524776T>GCA402135628DSG2n.733T>G
c.733T>G
c.902T>G (p.Ile301Arg)
c.368T>G (p.Ile123Arg)
18g.31524776T=CA2293856943DSG2n.733T=
c.733T=
c.902T= (p.Ile301=)
c.368T= (p.Ile123=)
18g.31524777A>CCA503599274DSG2n.734A>C
c.734A>C
c.903A>C (p.Ile301=)
c.369A>C (p.Ile123=)
18g.31524777A>GCA402135629DSG2n.734A>G
c.734A>G
c.903A>G (p.Ile301Met)
c.369A>G (p.Ile123Met)
 gnomAD v4
18g.31524777A>TCA503599275DSG2n.734A>T
c.734A>T
c.903A>T (p.Ile301=)
c.369A>T (p.Ile123=)
 gnomAD v4
18g.31524778G>ACA402135630DSG2n.735G>A
c.735G>A
c.904G>A (p.Gly302Ser)
c.370G>A (p.Gly124Ser)
 ClinVar dbSNP gnomAD v4
18g.31524778G>CCA402135632DSG2n.735G>C
c.735G>C
c.904G>C (p.Gly302Arg)
c.370G>C (p.Gly124Arg)
18g.31524778G=CA2293856944DSG2n.735G=
c.735G=
c.904G= (p.Gly302=)
c.370G= (p.Gly124=)
18g.31524778G>TCA402135631DSG2n.735G>T
c.735G>T
c.904G>T (p.Gly302Cys)
c.370G>T (p.Gly124Cys)
18g.31524779G>ACA402135633DSG2n.736G>A
c.736G>A
c.905G>A (p.Gly302Asp)
c.371G>A (p.Gly124Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
18g.31524779G>CCA402135634DSG2n.736G>C
c.736G>C
c.905G>C (p.Gly302Ala)
c.371G>C (p.Gly124Ala)
18g.31524779G=CA2293856946DSG2n.736G=
c.736G=
c.905G= (p.Gly302=)
c.371G= (p.Gly124=)
18g.31524779G>TCA402135635DSG2n.736G>T
c.736G>T
c.905G>T (p.Gly302Val)
c.371G>T (p.Gly124Val)
18g.31524780T>ACA503599276DSG2n.737T>A
c.737T>A
c.906T>A (p.Gly302=)
c.372T>A (p.Gly124=)
18g.31524780T>CCA503599277DSG2n.737T>C
c.737T>C
c.906T>C (p.Gly302=)
c.372T>C (p.Gly124=)
 dbSNP
18g.31524780T>GCA503599278DSG2n.737T>G
c.737T>G
c.906T>G (p.Gly302=)
c.372T>G (p.Gly124=)
18g.31524780T=CA2293856948DSG2n.737T=
c.737T=
c.906T= (p.Gly302=)
c.372T= (p.Gly124=)
18g.31524781T>ACA402135636DSG2n.738T>A
c.738T>A
c.907T>A (p.Ser303Thr)
c.373T>A (p.Ser125Thr)
18g.31524781T>CCA402135637DSG2n.738T>C
c.738T>C
c.907T>C (p.Ser303Pro)
c.373T>C (p.Ser125Pro)
18g.31524781T>GCA402135638DSG2n.738T>G
c.738T>G
c.907T>G (p.Ser303Ala)
c.373T>G (p.Ser125Ala)
18g.31524782C>ACA402135639DSG2n.739C>A
c.739C>A
c.908C>A (p.Ser303Tyr)
c.374C>A (p.Ser125Tyr)
18g.31524782C=CA2293856950DSG2n.739C=
c.739C=
c.908C= (p.Ser303=)
c.374C= (p.Ser125=)
18g.31524782C>GCA402135640DSG2n.739C>G
c.739C>G
c.908C>G (p.Ser303Cys)
c.374C>G (p.Ser125Cys)
18g.31524782C>TCA050446DSG2n.739C>T
c.739C>T
c.908C>T (p.Ser303Phe)
c.374C>T (p.Ser125Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524783delCA2573155225DSG2n.740del
c.740del
c.909del (p.Asp304IlefsTer20)
c.375del (p.Asp126IlefsTer20)
 ClinVar dbSNP
18g.31524783T>ACA050457DSG2n.740T>A
c.740T>A
c.909T>A (p.Ser303=)
c.375T>A (p.Ser125=)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.31524783T>CCA503599280DSG2n.740T>C
c.740T>C
c.909T>C (p.Ser303=)
c.375T>C (p.Ser125=)
18g.31524783T>GCA503599279DSG2n.740T>G
c.740T>G
c.909T>G (p.Ser303=)
c.375T>G (p.Ser125=)
18g.31524783T=CA2293856952DSG2n.740T=
c.740T=
c.909T= (p.Ser303=)
c.375T= (p.Ser125=)
18g.31524784G>ACA402135641DSG2n.741G>A
c.741G>A
c.910G>A (p.Asp304Asn)
c.376G>A (p.Asp126Asn)
18g.31524784G>CCA402135642DSG2n.741G>C
c.741G>C
c.910G>C (p.Asp304His)
c.376G>C (p.Asp126His)
18g.31524784G>TCA402135643DSG2n.741G>T
c.741G>T
c.910G>T (p.Asp304Tyr)
c.376G>T (p.Asp126Tyr)
18g.31524785A>CCA402135646DSG2n.742A>C
c.742A>C
c.911A>C (p.Asp304Ala)
c.377A>C (p.Asp126Ala)
18g.31524785A>GCA402135645DSG2n.742A>G
c.742A>G
c.911A>G (p.Asp304Gly)
c.377A>G (p.Asp126Gly)
 gnomAD v4
18g.31524785A>TCA402135644DSG2n.742A>T
c.742A>T
c.911A>T (p.Asp304Val)
c.377A>T (p.Asp126Val)
 gnomAD v4
18g.31524786T>ACA402135647DSG2n.743T>A
c.743T>A
c.912T>A (p.Asp304Glu)
c.378T>A (p.Asp126Glu)
18g.31524786T>CCA503599281DSG2n.743T>C
c.743T>C
c.912T>C (p.Asp304=)
c.378T>C (p.Asp126=)
 ClinVar
18g.31524786T>GCA402135648DSG2n.743T>G
c.743T>G
c.912T>G (p.Asp304Glu)
c.378T>G (p.Asp126Glu)
18g.31524786_31524815delinsAATTGGCTGGCAAATTTTACATTTGAAATGAAGGAGGTTATTTCCTTCATTTGAATTGGCTGGCAAATTTTACATTTGAAATGACA2580095685DSG2n.743_772delinsAATTGGCTGGCAAATTTTACATTTGAAATGAAGGAGGTTATTTCCTTCATTTGAATTGGCTGGCAAATTTTACATTTGAAATGA
c.743_772delinsAATTGGCTGGCAAATTTTACATTTGAAATGAAGGAGGTTATTTCCTTCATTTGAATTGGCTGGCAAATTTTACATTTGAAATGA
c.912_941delinsAATTGGCTGGCAAATTTTACATTTGAAATGAAGGAGGTTATTTCCTTCATTTGAATTGGCTGGCAAATTTTACATTTGAAATGA (p.Asp304GlufsTer11)
c.378_407delinsAATTGGCTGGCAAATTTTACATTTGAAATGAAGGAGGTTATTTCCTTCATTTGAATTGGCTGGCAAATTTTACATTTGAAATGA (p.Asp126GlufsTer11)
 ClinVar
18g.31524787A=CA2293856954DSG2n.744A=
c.744A=
c.913A= (p.Asn305=)
c.379A= (p.Asn127=)
18g.31524787A>CCA402135649DSG2n.744A>C
c.744A>C
c.913A>C (p.Asn305His)
c.379A>C (p.Asn127His)
18g.31524787A>GCA402135650DSG2n.744A>G
c.744A>G
c.913A>G (p.Asn305Asp)
c.379A>G (p.Asn127Asp)
 ClinVar dbSNP
18g.31524787A>TCA402135651DSG2n.744A>T
c.744A>T
c.913A>T (p.Asn305Tyr)
c.379A>T (p.Asn127Tyr)
18g.31524788A=CA2293856956DSG2n.745A=
c.745A=
c.914A= (p.Asn305=)
c.380A= (p.Asn127=)
18g.31524788A>CCA402135652DSG2n.745A>C
c.745A>C
c.914A>C (p.Asn305Thr)
c.380A>C (p.Asn127Thr)
18g.31524788A>GCA402135653DSG2n.745A>G
c.745A>G
c.914A>G (p.Asn305Ser)
c.380A>G (p.Asn127Ser)
 ClinVar dbSNP gnomAD v4
18g.31524788A>TCA402135654DSG2n.745A>T
c.745A>T
c.914A>T (p.Asn305Ile)
c.380A>T (p.Asn127Ile)
18g.31524789T>ACA402135655DSG2n.746T>A
c.746T>A
c.915T>A (p.Asn305Lys)
c.381T>A (p.Asn127Lys)
18g.31524789T>CCA503599282DSG2n.746T>C
c.746T>C
c.915T>C (p.Asn305=)
c.381T>C (p.Asn127=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.31524789T>GCA402135656DSG2n.746T>G
c.746T>G
c.915T>G (p.Asn305Lys)
c.381T>G (p.Asn127Lys)
18g.31524789T=CA2293856958DSG2n.746T=
c.746T=
c.915T= (p.Asn305=)
c.381T= (p.Asn127=)
18g.31524790T>ACA402135657DSG2n.747T>A
c.747T>A
c.916T>A (p.Trp306Arg)
c.382T>A (p.Trp128Arg)
18g.31524790T>CCA402135658DSG2n.747T>C
c.747T>C
c.916T>C (p.Trp306Arg)
c.382T>C (p.Trp128Arg)
 ClinVar
18g.31524790T>GCA402135659DSG2n.747T>G
c.747T>G
c.916T>G (p.Trp306Gly)
c.382T>G (p.Trp128Gly)
18g.31524791G>ACA402135662DSG2n.748G>A
c.748G>A
c.917G>A (p.Trp306Ter)
c.383G>A (p.Trp128Ter)
 ClinVar dbSNP
18g.31524791G>CCA402135661DSG2n.748G>C
c.748G>C
c.917G>C (p.Trp306Ser)
c.383G>C (p.Trp128Ser)
18g.31524791G>TCA402135660DSG2n.748G>T
c.748G>T
c.917G>T (p.Trp306Leu)
c.383G>T (p.Trp128Leu)
18g.31524792G>ACA022354DSG2n.749G>A
c.749G>A
c.918G>A (p.Trp306Ter)
c.384G>A (p.Trp128Ter)
 ClinVar dbSNP gnomAD v4
18g.31524792G>CCA402135663DSG2n.749G>C
c.749G>C
c.918G>C (p.Trp306Cys)
c.384G>C (p.Trp128Cys)
18g.31524792G=CA2293856962DSG2n.749G=
c.749G=
c.918G= (p.Trp306=)
c.384G= (p.Trp128=)
18g.31524792G>TCA402135664DSG2n.749G>T
c.749G>T
c.918G>T (p.Trp306Cys)
c.384G>T (p.Trp128Cys)
18g.31524793C>ACA402135665DSG2n.750C>A
c.750C>A
c.919C>A (p.Leu307Met)
c.385C>A (p.Leu129Met)
18g.31524793C=CA2293856964DSG2n.750C=
c.750C=
c.919C= (p.Leu307=)
c.385C= (p.Leu129=)
18g.31524793C>GCA297732287DSG2n.750C>G
c.750C>G
c.919C>G (p.Leu307Val)
c.385C>G (p.Leu129Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31524793C>TCA503599283DSG2n.750C>T
c.750C>T
c.919C>T (p.Leu307=)
c.385C>T (p.Leu129=)
18g.31524794T>ACA402135668DSG2n.751T>A
c.751T>A
c.920T>A (p.Leu307Gln)
c.386T>A (p.Leu129Gln)
 dbSNP gnomAD v2 gnomAD v4
18g.31524794T>CCA402135667DSG2n.751T>C
c.751T>C
c.920T>C (p.Leu307Pro)
c.386T>C (p.Leu129Pro)
18g.31524794T>GCA402135666DSG2n.751T>G
c.751T>G
c.920T>G (p.Leu307Arg)
c.386T>G (p.Leu129Arg)
 ClinVar
18g.31524794T=CA2293856966DSG2n.751T=
c.751T=
c.920T= (p.Leu307=)
c.386T= (p.Leu129=)
18g.31524795G>ACA503599284DSG2n.752G>A
c.752G>A
c.921G>A (p.Leu307=)
c.387G>A (p.Leu129=)
18g.31524795G>CCA503599285DSG2n.752G>C
c.752G>C
c.921G>C (p.Leu307=)
c.387G>C (p.Leu129=)
18g.31524795G>TCA503599286DSG2n.752G>T
c.752G>T
c.921G>T (p.Leu307=)
c.387G>T (p.Leu129=)
18g.31524796G>ACA402135669DSG2n.753G>A
c.753G>A
c.922G>A (p.Ala308Thr)
c.388G>A (p.Ala130Thr)
 gnomAD v4
18g.31524796G>CCA402135670DSG2n.753G>C
c.753G>C
c.922G>C (p.Ala308Pro)
c.388G>C (p.Ala130Pro)
18g.31524796G>TCA402135671DSG2n.753G>T
c.753G>T
c.922G>T (p.Ala308Ser)
c.388G>T (p.Ala130Ser)
18g.31524797C>ACA402135672DSG2n.754C>A
c.754C>A
c.923C>A (p.Ala308Glu)
c.389C>A (p.Ala130Glu)
18g.31524797C>GCA402135673DSG2n.754C>G
c.754C>G
c.923C>G (p.Ala308Gly)
c.389C>G (p.Ala130Gly)
18g.31524797C>TCA402135674DSG2n.754C>T
c.754C>T
c.923C>T (p.Ala308Val)
c.389C>T (p.Ala130Val)
18g.31524798A>CCA503599287DSG2n.755A>C
c.755A>C
c.924A>C (p.Ala308=)
c.390A>C (p.Ala130=)
18g.31524798A>GCA503599289DSG2n.755A>G
c.755A>G
c.924A>G (p.Ala308=)
c.390A>G (p.Ala130=)
18g.31524798A>TCA503599291DSG2n.755A>T
c.755A>T
c.924A>T (p.Ala308=)
c.390A>T (p.Ala130=)
18g.31524799A>CCA402135675DSG2n.756A>C
c.756A>C
c.925A>C (p.Asn309His)
c.391A>C (p.Asn131His)
18g.31524799A>GCA402135677DSG2n.756A>G
c.756A>G
c.925A>G (p.Asn309Asp)
c.391A>G (p.Asn131Asp)
18g.31524799A>TCA402135676DSG2n.756A>T
c.756A>T
c.925A>T (p.Asn309Tyr)
c.391A>T (p.Asn131Tyr)
18g.31524800A>CCA402135678DSG2n.757A>C
c.757A>C
c.926A>C (p.Asn309Thr)
c.392A>C (p.Asn131Thr)
18g.31524800A>GCA402135679DSG2n.757A>G
c.757A>G
c.926A>G (p.Asn309Ser)
c.392A>G (p.Asn131Ser)
18g.31524800A>TCA402135680DSG2n.757A>T
c.757A>T
c.926A>T (p.Asn309Ile)
c.392A>T (p.Asn131Ile)

Number of alleles fetched