Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.154535269_154535278delinsAGGGGAATTACA2695237065G6PDc.375_384delinsTAATTCCCCT (p.Met125_Leu128delinsIleAsnSerPro)
c.238_247delinsTAATTCCCCT
c.255_264delinsTAATTCCCCT (p.Met85_Leu88delinsIleAsnSerPro)
c.*217_*226delinsTAATTCCCCT (n.*217_*226delinsTAATTCCCCT)
c.465_474delinsTAATTCCCCT (p.Met155_Leu158delinsIleAsnSerPro)
n.329_338delinsTAATTCCCCT
Xg.154535270A=CA2466724552G6PDc.383T= (p.Leu128=)
c.246T=
c.263T= (p.Leu88=)
c.*225T= (n.*225T=)
c.473T= (p.Leu158=)
n.337T=
Xg.154535270A>CCA415238638G6PDc.383T>G (p.Leu128Arg)
c.246T>G
c.263T>G (p.Leu88Arg)
c.*225T>G (n.*225T>G)
c.473T>G (p.Leu158Arg)
n.337T>G
ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.154535270A>GCA203034G6PDc.383T>C (p.Leu128Pro)
c.246T>C
c.263T>C (p.Leu88Pro)
c.*225T>C (n.*225T>C)
c.473T>C (p.Leu158Pro)
n.337T>C
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154535270A>TCA415238636G6PDc.383T>A (p.Leu128His)
c.246T>A
c.263T>A (p.Leu88His)
c.*225T>A (n.*225T>A)
c.473T>A (p.Leu158His)
n.337T>A
Xg.154535271G>ACA415238639G6PDc.382C>T (p.Leu128Phe)
c.245C>T
c.262C>T (p.Leu88Phe)
c.*224C>T (n.*224C>T)
c.472C>T (p.Leu158Phe)
n.336C>T
gnomAD v4
Xg.154535271G>CCA415238640G6PDc.382C>G (p.Leu128Val)
c.245C>G
c.262C>G (p.Leu88Val)
c.*224C>G (n.*224C>G)
c.472C>G (p.Leu158Val)
n.336C>G
Xg.154535271G>TCA415238643G6PDc.382C>A (p.Leu128Ile)
c.245C>A
c.262C>A (p.Leu88Ile)
c.*224C>A (n.*224C>A)
c.472C>A (p.Leu158Ile)
n.336C>A
Xg.154535272G>ACA10566253G6PDc.381C>T (p.Ala127=)
c.244C>T
c.261C>T (p.Ala87=)
c.*223C>T (n.*223C>T)
c.471C>T (p.Ala157=)
n.335C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154535272G>CCA519306900G6PDc.381C>G (p.Ala127=)
c.244C>G
c.261C>G (p.Ala87=)
c.*223C>G (n.*223C>G)
c.471C>G (p.Ala157=)
n.335C>G
Xg.154535272G=CA2466724553G6PDc.381C= (p.Ala127=)
c.244C=
c.261C= (p.Ala87=)
c.*223C= (n.*223C=)
c.471C= (p.Ala157=)
n.335C=
Xg.154535272G>TCA519306898G6PDc.381C>A (p.Ala127=)
c.244C>A
c.261C>A (p.Ala87=)
c.*223C>A (n.*223C>A)
c.471C>A (p.Ala157=)
n.335C>A
dbSNP
Xg.154535273G>ACA415238646G6PDc.380C>T (p.Ala127Val)
c.243C>T
c.260C>T (p.Ala87Val)
c.*222C>T (n.*222C>T)
c.470C>T (p.Ala157Val)
n.334C>T
Xg.154535273G>CCA415238648G6PDc.380C>G (p.Ala127Gly)
c.243C>G
c.260C>G (p.Ala87Gly)
c.*222C>G (n.*222C>G)
c.470C>G (p.Ala157Gly)
n.334C>G
Xg.154535273G>TCA415238650G6PDc.380C>A (p.Ala127Asp)
c.243C>A
c.260C>A (p.Ala87Asp)
c.*222C>A (n.*222C>A)
c.470C>A (p.Ala157Asp)
n.334C>A
Xg.154535274C>ACA415238653G6PDc.379G>T (p.Ala127Ser)
c.242G>T
c.259G>T (p.Ala87Ser)
c.*221G>T (n.*221G>T)
c.469G>T (p.Ala157Ser)
n.333G>T
Xg.154535274C>GCA415238656G6PDc.379G>C (p.Ala127Pro)
c.242G>C
c.259G>C (p.Ala87Pro)
c.*221G>C (n.*221G>C)
c.469G>C (p.Ala157Pro)
n.333G>C
Xg.154535274C>TCA415238657G6PDc.379G>A (p.Ala127Thr)
c.242G>A
c.259G>A (p.Ala87Thr)
c.*221G>A (n.*221G>A)
c.469G>A (p.Ala157Thr)
n.333G>A
gnomAD v4
Xg.154535275A>CCA415238659G6PDc.378T>G (p.Asn126Lys)
c.241T>G
c.258T>G (p.Asn86Lys)
c.*220T>G (n.*220T>G)
c.468T>G (p.Asn156Lys)
n.332T>G
Xg.154535275A>GCA519306908G6PDc.378T>C (p.Asn126=)
c.241T>C
c.258T>C (p.Asn86=)
c.*220T>C (n.*220T>C)
c.468T>C (p.Asn156=)
n.332T>C
Xg.154535275A>TCA415238658G6PDc.378T>A (p.Asn126Lys)
c.241T>A
c.258T>A (p.Asn86Lys)
c.*220T>A (n.*220T>A)
c.468T>A (p.Asn156Lys)
n.332T>A
Xg.154535276T>ACA415238660G6PDc.377A>T (p.Asn126Ile)
c.240A>T
c.257A>T (p.Asn86Ile)
c.*219A>T (n.*219A>T)
c.467A>T (p.Asn156Ile)
n.331A>T
Xg.154535276T>CCA415238661G6PDc.377A>G (p.Asn126Ser)
c.240A>G
c.257A>G (p.Asn86Ser)
c.*219A>G (n.*219A>G)
c.467A>G (p.Asn156Ser)
n.331A>G
dbSNP
Xg.154535276T>GCA415238662G6PDc.377A>C (p.Asn126Thr)
c.240A>C
c.257A>C (p.Asn86Thr)
c.*219A>C (n.*219A>C)
c.467A>C (p.Asn156Thr)
n.331A>C
Xg.154535277T>ACA10566254G6PDc.376A>T (p.Asn126Tyr)
c.239A>T
c.256A>T (p.Asn86Tyr)
c.*218A>T (n.*218A>T)
c.466A>T (p.Asn156Tyr)
n.330A>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154535277T>CCA120939G6PDc.376A>G (p.Asn126Asp)
c.239A>G
c.256A>G (p.Asn86Asp)
c.*218A>G (n.*218A>G)
c.466A>G (p.Asn156Asp)
n.330A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
Xg.[154535277T>C;154535342C>T]CA2580573386G6PDc.[311G>A;376A>G] (p.[Arg104His;Asn126Asp])
c.[174G>A;239A>G]
c.[191G>A;256A>G] (p.[Arg64His;Asn86Asp])
c.[*153G>A;*218A>G] (n.[*153G>A;*218A>G])
c.[401G>A;466A>G] (p.[Arg134His;Asn156Asp])
n.[265G>A;330A>G]
ClinVar
Xg.[154535277T>C;154536002C>T]CA033016G6PDc.[202G>A;376A>G] (p.[Val68Met;Asn126Asp])
c.[82G>A;239A>G]
c.[82G>A;256A>G] (p.[Val28Met;Asn86Asp])
c.[*44G>A;*218A>G] (n.[*44G>A;*218A>G])
c.[292G>A;466A>G] (p.[Val98Met;Asn156Asp])
n.[156G>A;330A>G]
ClinVar
Xg.154535277T>GCA415238664G6PDc.376A>C (p.Asn126His)
c.239A>C
c.256A>C (p.Asn86His)
c.*218A>C (n.*218A>C)
c.466A>C (p.Asn156His)
n.330A>C
Xg.154535277T=CA2466724554G6PDc.376A= (p.Asn126=)
c.239A=
c.256A= (p.Asn86=)
c.*218A= (n.*218A=)
c.466A= (p.Asn156=)
n.330A=
Xg.154535278C>ACA415238666G6PDc.375G>T (p.Met125Ile)
c.238G>T
c.255G>T (p.Met85Ile)
c.*217G>T (n.*217G>T)
c.465G>T (p.Met155Ile)
n.329G>T
Xg.154535278C=CA2466724555G6PDc.375G= (p.Met125=)
c.238G=
c.255G= (p.Met85=)
c.*217G= (n.*217G=)
c.465G= (p.Met155=)
n.329G=
Xg.154535278C>GCA10566255G6PDc.375G>C (p.Met125Ile)
c.238G>C
c.255G>C (p.Met85Ile)
c.*217G>C (n.*217G>C)
c.465G>C (p.Met155Ile)
n.329G>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154535278C>TCA415238669G6PDc.375G>A (p.Met125Ile)
c.238G>A
c.255G>A (p.Met85Ile)
c.*217G>A (n.*217G>A)
c.465G>A (p.Met155Ile)
n.329G>A
Xg.154535278dupCA337318104G6PDc.375dup (p.Asn126GlufsTer?)
c.238dup
c.255dup (p.Asn86GlufsTer?)
c.*217dup (n.*217dup)
c.465dup (p.Asn156GlufsTer?)
n.329dup
dbSNP
Xg.154535279A>CCA415238670G6PDc.374T>G (p.Met125Arg)
c.237T>G
c.254T>G (p.Met85Arg)
c.*216T>G (n.*216T>G)
c.464T>G (p.Met155Arg)
n.328T>G
Xg.154535279A>GCA415238671G6PDc.374T>C (p.Met125Thr)
c.237T>C
c.254T>C (p.Met85Thr)
c.*216T>C (n.*216T>C)
c.464T>C (p.Met155Thr)
n.328T>C
Xg.154535279A>TCA415238672G6PDc.374T>A (p.Met125Lys)
c.237T>A
c.254T>A (p.Met85Lys)
c.*216T>A (n.*216T>A)
c.464T>A (p.Met155Lys)
n.328T>A
dbSNP
Xg.154535280T>ACA415238682G6PDc.373A>T (p.Met125Leu)
c.236A>T
c.253A>T (p.Met85Leu)
c.*215A>T (n.*215A>T)
c.463A>T (p.Met155Leu)
n.327A>T
Xg.154535280T>CCA415238675G6PDc.373A>G (p.Met125Val)
c.236A>G
c.253A>G (p.Met85Val)
c.*215A>G (n.*215A>G)
c.463A>G (p.Met155Val)
n.327A>G
gnomAD v4
Xg.154535280T>GCA415238677G6PDc.373A>C (p.Met125Leu)
c.236A>C
c.253A>C (p.Met85Leu)
c.*215A>C (n.*215A>C)
c.463A>C (p.Met155Leu)
n.327A>C
Xg.154535281G>ACA519306925G6PDc.372C>T (p.His124=)
c.235C>T
c.252C>T (p.His84=)
c.*214C>T (n.*214C>T)
c.462C>T (p.His154=)
n.326C>T
gnomAD v4
Xg.154535281G>CCA415238683G6PDc.372C>G (p.His124Gln)
c.235C>G
c.252C>G (p.His84Gln)
c.*214C>G (n.*214C>G)
c.462C>G (p.His154Gln)
n.326C>G
Xg.154535281G>TCA415238687G6PDc.372C>A (p.His124Gln)
c.235C>A
c.252C>A (p.His84Gln)
c.*214C>A (n.*214C>A)
c.462C>A (p.His154Gln)
n.326C>A
Xg.154535282T>ACA415238692G6PDc.371A>T (p.His124Leu)
c.234A>T
c.251A>T (p.His84Leu)
c.*213A>T (n.*213A>T)
c.461A>T (p.His154Leu)
n.325A>T
Xg.154535282T>CCA415238694G6PDc.371A>G (p.His124Arg)
c.234A>G
c.251A>G (p.His84Arg)
c.*213A>G (n.*213A>G)
c.461A>G (p.His154Arg)
n.325A>G
ClinVar
Xg.154535282T>GCA415238695G6PDc.371A>C (p.His124Pro)
c.234A>C
c.251A>C (p.His84Pro)
c.*213A>C (n.*213A>C)
c.461A>C (p.His154Pro)
n.325A>C
Xg.154535283G>ACA10566256G6PDc.370C>T (p.His124Tyr)
c.233C>T
c.250C>T (p.His84Tyr)
c.*212C>T (n.*212C>T)
c.460C>T (p.His154Tyr)
n.324C>T
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154535283G>CCA415238699G6PDc.370C>G (p.His124Asp)
c.233C>G
c.250C>G (p.His84Asp)
c.*212C>G (n.*212C>G)
c.460C>G (p.His154Asp)
n.324C>G
Xg.154535283G=CA2466724556G6PDc.370C= (p.His124=)
c.233C=
c.250C= (p.His84=)
c.*212C= (n.*212C=)
c.460C= (p.His154=)
n.324C=

Number of alleles fetched