Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.154535269_154535278delinsAGGGGAATTA | CA2695237065 | G6PD | c.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 | |
X | g.154535270A= | CA2466724552 | G6PD | c.383T= (p.Leu128=) c.246T= c.263T= (p.Leu88=) c.*225T= (n.*225T=) c.473T= (p.Leu158=) n.337T= | |
X | g.154535270A>C | CA415238638 | G6PD | c.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 |
X | g.154535270A>G | CA203034 | G6PD | c.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 |
X | g.154535270A>T | CA415238636 | G6PD | c.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 | |
X | g.154535271G>A | CA415238639 | G6PD | c.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 |
X | g.154535271G>C | CA415238640 | G6PD | c.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 | |
X | g.154535271G>T | CA415238643 | G6PD | c.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 | |
X | g.154535272G>A | CA10566253 | G6PD | c.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 |
X | g.154535272G>C | CA519306900 | G6PD | c.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 | |
X | g.154535272G= | CA2466724553 | G6PD | c.381C= (p.Ala127=) c.244C= c.261C= (p.Ala87=) c.*223C= (n.*223C=) c.471C= (p.Ala157=) n.335C= | |
X | g.154535272G>T | CA519306898 | G6PD | c.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 |
X | g.154535273G>A | CA415238646 | G6PD | c.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 | |
X | g.154535273G>C | CA415238648 | G6PD | c.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 | |
X | g.154535273G>T | CA415238650 | G6PD | c.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 | |
X | g.154535274C>A | CA415238653 | G6PD | c.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 | |
X | g.154535274C>G | CA415238656 | G6PD | c.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 | |
X | g.154535274C>T | CA415238657 | G6PD | c.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 |
X | g.154535275A>C | CA415238659 | G6PD | c.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 | |
X | g.154535275A>G | CA519306908 | G6PD | c.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 | |
X | g.154535275A>T | CA415238658 | G6PD | c.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 | |
X | g.154535276T>A | CA415238660 | G6PD | c.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 | |
X | g.154535276T>C | CA415238661 | G6PD | c.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 |
X | g.154535276T>G | CA415238662 | G6PD | c.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 | |
X | g.154535277T>A | CA10566254 | G6PD | c.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 |
X | g.154535277T>C | CA120939 | G6PD | c.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 |
X | g.[154535277T>C;154535342C>T] | CA2580573386 | G6PD | c.[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 |
X | g.[154535277T>C;154536002C>T] | CA033016 | G6PD | c.[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 |
X | g.154535277T>G | CA415238664 | G6PD | c.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 | |
X | g.154535277T= | CA2466724554 | G6PD | c.376A= (p.Asn126=) c.239A= c.256A= (p.Asn86=) c.*218A= (n.*218A=) c.466A= (p.Asn156=) n.330A= | |
X | g.154535278C>A | CA415238666 | G6PD | c.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 | |
X | g.154535278C= | CA2466724555 | G6PD | c.375G= (p.Met125=) c.238G= c.255G= (p.Met85=) c.*217G= (n.*217G=) c.465G= (p.Met155=) n.329G= | |
X | g.154535278C>G | CA10566255 | G6PD | c.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 |
X | g.154535278C>T | CA415238669 | G6PD | c.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 | |
X | g.154535278dup | CA337318104 | G6PD | c.375dup (p.Asn126GlufsTer?) c.238dup c.255dup (p.Asn86GlufsTer?) c.*217dup (n.*217dup) c.465dup (p.Asn156GlufsTer?) n.329dup | dbSNP |
X | g.154535279A>C | CA415238670 | G6PD | c.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 | |
X | g.154535279A>G | CA415238671 | G6PD | c.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 | |
X | g.154535279A>T | CA415238672 | G6PD | c.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 |
X | g.154535280T>A | CA415238682 | G6PD | c.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 | |
X | g.154535280T>C | CA415238675 | G6PD | c.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 |
X | g.154535280T>G | CA415238677 | G6PD | c.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 | |
X | g.154535281G>A | CA519306925 | G6PD | c.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 |
X | g.154535281G>C | CA415238683 | G6PD | c.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 | |
X | g.154535281G>T | CA415238687 | G6PD | c.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 | |
X | g.154535282T>A | CA415238692 | G6PD | c.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 | |
X | g.154535282T>C | CA415238694 | G6PD | c.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 |
X | g.154535282T>G | CA415238695 | G6PD | c.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 | |
X | g.154535283G>A | CA10566256 | G6PD | c.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 |
X | g.154535283G>C | CA415238699 | G6PD | c.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 | |
X | g.154535283G= | CA2466724556 | G6PD | c.370C= (p.His124=) c.233C= c.250C= (p.His84=) c.*212C= (n.*212C=) c.460C= (p.His154=) n.324C= |