Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.154966655A=CA2466848161F8c.1042T= (p.Cys348=)
c.*918T= (n.*918T=)
c.937T= (p.Cys313=)
Xg.154966655A>CCA414917199F8c.1042T>G (p.Cys348Gly)
c.*918T>G (n.*918T>G)
c.937T>G (p.Cys313Gly)
Xg.154966655A>GCA337336620F8c.1042T>C (p.Cys348Arg)
c.*918T>C (n.*918T>C)
c.937T>C (p.Cys313Arg)
dbSNP
Xg.154966655A>TCA414917198F8c.1042T>A (p.Cys348Ser)
c.*918T>A (n.*918T>A)
c.937T>A (p.Cys313Ser)
Xg.154966656G>ACA519365876F8c.1041C>T (p.Ser347=)
c.*917C>T (n.*917C>T)
c.936C>T (p.Ser312=)
Xg.154966656G>CCA414917205F8c.1041C>G (p.Ser347Arg)
c.*917C>G (n.*917C>G)
c.936C>G (p.Ser312Arg)
Xg.154966656G>TCA414917209F8c.1041C>A (p.Ser347Arg)
c.*917C>A (n.*917C>A)
c.936C>A (p.Ser312Arg)
Xg.154966657C>ACA414917213F8c.1040G>T (p.Ser347Ile)
c.*916G>T (n.*916G>T)
c.935G>T (p.Ser312Ile)
gnomAD v4
Xg.154966657C=CA2466848162F8c.1040G= (p.Ser347=)
c.*916G= (n.*916G=)
c.935G= (p.Ser312=)
Xg.154966657C>GCA414917218F8c.1040G>C (p.Ser347Thr)
c.*916G>C (n.*916G>C)
c.935G>C (p.Ser312Thr)
Xg.154966657C>TCA414917220F8c.1040G>A (p.Ser347Asn)
c.*916G>A (n.*916G>A)
c.935G>A (p.Ser312Asn)
dbSNP gnomAD v4
Xg.154966659_154966662delCA2695237394F8c.1037_1040del (p.Asp346AlafsTer10)
c.*913_*916del (n.*913_*916del)
c.932_935del (p.Asp311AlafsTer10)
Xg.154966658T>ACA414917226F8c.1039A>T (p.Ser347Cys)
c.*915A>T (n.*915A>T)
c.934A>T (p.Ser312Cys)
Xg.154966658T>CCA414917227F8c.1039A>G (p.Ser347Gly)
c.*915A>G (n.*915A>G)
c.934A>G (p.Ser312Gly)
Xg.154966658T>GCA414917229F8c.1039A>C (p.Ser347Arg)
c.*915A>C (n.*915A>C)
c.934A>C (p.Ser312Arg)
Xg.154966658_154966659delinsTGCA2466848163F8c.1038_1039delinsCA (p.Asp346=)
c.*914_*915delinsCA (n.*914_*915delinsCA)
c.933_934delinsCA (p.Asp311=)
Xg.154966659delCA873344792F8c.1038del (p.Asp346GlufsTer11)
c.*914del (n.*914del)
c.933del (p.Asp311GlufsTer11)
dbSNP
Xg.154966659G>ACA519365888F8c.1038C>T (p.Asp346=)
c.*914C>T (n.*914C>T)
c.933C>T (p.Asp311=)
Xg.154966659G>CCA414917230F8c.1038C>G (p.Asp346Glu)
c.*914C>G (n.*914C>G)
c.933C>G (p.Asp311Glu)
Xg.154966659G>TCA414917232F8c.1038C>A (p.Asp346Glu)
c.*914C>A (n.*914C>A)
c.933C>A (p.Asp311Glu)
Xg.154966660T>ACA414917241F8c.1037A>T (p.Asp346Val)
c.*913A>T (n.*913A>T)
c.932A>T (p.Asp311Val)
Xg.154966660T>CCA414917238F8c.1037A>G (p.Asp346Gly)
c.*913A>G (n.*913A>G)
c.932A>G (p.Asp311Gly)
gnomAD v4
Xg.154966660T>GCA414917236F8c.1037A>C (p.Asp346Ala)
c.*913A>C (n.*913A>C)
c.932A>C (p.Asp311Ala)
Xg.154966661C>ACA414917248F8c.1036G>T (p.Asp346Tyr)
c.*912G>T (n.*912G>T)
c.931G>T (p.Asp311Tyr)
Xg.154966661C>GCA414917250F8c.1036G>C (p.Asp346His)
c.*912G>C (n.*912G>C)
c.931G>C (p.Asp311His)
Xg.154966661C>TCA414917251F8c.1036G>A (p.Asp346Asn)
c.*912G>A (n.*912G>A)
c.931G>A (p.Asp311Asn)
Xg.154966662T>ACA519365905F8c.1035A>T (p.Val345=)
c.*911A>T (n.*911A>T)
c.930A>T (p.Val310=)
Xg.154966662T>CCA519365908F8c.1035A>G (p.Val345=)
c.*911A>G (n.*911A>G)
c.930A>G (p.Val310=)
Xg.154966662T>GCA519365910F8c.1035A>C (p.Val345=)
c.*911A>C (n.*911A>C)
c.930A>C (p.Val310=)
Xg.154966663A=CA2466848164F8c.1034T= (p.Val345=)
c.*910T= (n.*910T=)
c.929T= (p.Val310=)
Xg.154966663A>CCA414917255F8c.1034T>G (p.Val345Gly)
c.*910T>G (n.*910T>G)
c.929T>G (p.Val310Gly)
Xg.154966663A>GCA414917257F8c.1034T>C (p.Val345Ala)
c.*910T>C (n.*910T>C)
c.929T>C (p.Val310Ala)
ClinVar dbSNP
Xg.154966663A>TCA414917259F8c.1034T>A (p.Val345Glu)
c.*910T>A (n.*910T>A)
c.929T>A (p.Val310Glu)
Xg.154966664C>ACA255036F8c.1033G>T (p.Val345Leu)
c.*909G>T (n.*909G>T)
c.928G>T (p.Val310Leu)
ClinVar dbSNP
Xg.154966664C=CA2466848165F8c.1033G= (p.Val345=)
c.*909G= (n.*909G=)
c.928G= (p.Val310=)
Xg.154966664C>GCA337336646F8c.1033G>C (p.Val345Leu)
c.*909G>C (n.*909G>C)
c.928G>C (p.Val310Leu)
dbSNP
Xg.154966664C>TCA414917265F8c.1033G>A (p.Val345Ile)
c.*909G>A (n.*909G>A)
c.928G>A (p.Val310Ile)
Xg.154966665T>ACA414917269F8c.1032A>T (p.Lys344Asn)
c.*908A>T (n.*908A>T)
c.927A>T (p.Lys309Asn)
Xg.154966665T>CCA337336648F8c.1032A>G (p.Lys344=)
c.*908A>G (n.*908A>G)
c.927A>G (p.Lys309=)
dbSNP gnomAD v3 gnomAD v4
Xg.154966665T>GCA414917270F8c.1032A>C (p.Lys344Asn)
c.*908A>C (n.*908A>C)
c.927A>C (p.Lys309Asn)
Xg.154966665T=CA2466848166F8c.1032A= (p.Lys344=)
c.*908A= (n.*908A=)
c.927A= (p.Lys309=)
Xg.154966666T>ACA414917274F8c.1031A>T (p.Lys344Ile)
c.*907A>T (n.*907A>T)
c.926A>T (p.Lys309Ile)
Xg.154966666T>CCA414917272F8c.1031A>G (p.Lys344Arg)
c.*907A>G (n.*907A>G)
c.926A>G (p.Lys309Arg)
Xg.154966666T>GCA414917271F8c.1031A>C (p.Lys344Thr)
c.*907A>C (n.*907A>C)
c.926A>C (p.Lys309Thr)
Xg.154966667T>ACA414917275F8c.1030A>T (p.Lys344Ter)
c.*906A>T (n.*906A>T)
c.925A>T (p.Lys309Ter)
Xg.154966667T>CCA414917279F8c.1030A>G (p.Lys344Glu)
c.*906A>G (n.*906A>G)
c.925A>G (p.Lys309Glu)
Xg.154966667T>GCA10568510F8c.1030A>C (p.Lys344Gln)
c.*906A>C (n.*906A>C)
c.925A>C (p.Lys309Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154966667T=CA2466848167F8c.1030A= (p.Lys344=)
c.*906A= (n.*906A=)
c.925A= (p.Lys309=)
Xg.154966668_154966677delCA2695237397F8c.1021_1030del (p.Ala341LysfsTer2)
c.*897_*906del (n.*897_*906del)
c.916_925del (p.Ala306LysfsTer2)
Xg.154966668G>ACA519365942F8c.1029C>T (p.Val343=)
c.*905C>T (n.*905C>T)
c.924C>T (p.Val308=)
gnomAD v4

Number of alleles fetched