| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154534434_154534438del | CA2508727524 | G6PD | c.544_548del (p.Arg182ValfsTer10) c.547_551del (p.Arg183ValfsTer10) c.407_411del c.410_414del c.424_428del (p.Arg142ValfsTer10) c.*386_*390del (n.*386_*390del) c.634_638del (p.Arg212ValfsTer10) c.637_641del (p.Arg213ValfsTer10) | |
| X | g.154534435_154534439del | CA2514266239 | G6PD | c.543_547del (p.Arg182ValfsTer10) c.546_550del (p.Arg183ValfsTer10) c.406_410del c.409_413del c.423_427del (p.Arg142ValfsTer10) c.*385_*389del (n.*385_*389del) c.633_637del (p.Arg212ValfsTer10) c.636_640del (p.Arg213ValfsTer10) | |
| X | g.154534437_154534438del | CA2556120592 | G6PD | c.544_545del (p.Arg182AlafsTer11) c.547_548del (p.Arg183AlafsTer11) c.407_408del c.410_411del c.424_425del (p.Arg142AlafsTer11) c.*386_*387del (n.*386_*387del) c.634_635del (p.Arg212AlafsTer11) c.637_638del (p.Arg213AlafsTer11) | |
| X | g.154534437_154534439del | CA2512512016 | G6PD | c.543_545del (p.Asp181_Arg182delinsGlu) c.546_548del (p.Asp182_Arg183delinsGlu) c.406_408del c.409_411del c.423_425del (p.Asp141_Arg142delinsGlu) c.*385_*387del (n.*385_*387del) c.633_635del (p.Asp211_Arg212delinsGlu) c.636_638del (p.Asp212_Arg213delinsGlu) | |
| X | g.154534438G>A | CA033252 | G6PD | c.544C>T (p.Arg182Trp) c.547C>T (p.Arg183Trp) c.407C>T c.410C>T c.424C>T (p.Arg142Trp) c.*386C>T (n.*386C>T) c.634C>T (p.Arg212Trp) c.637C>T (p.Arg213Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154534438G>C | CA415238021 | G6PD | c.544C>G (p.Arg182Gly) c.547C>G (p.Arg183Gly) c.407C>G c.410C>G c.424C>G (p.Arg142Gly) c.*386C>G (n.*386C>G) c.634C>G (p.Arg212Gly) c.637C>G (p.Arg213Gly) | |
| X | g.154534438G= | CA2466724187 | G6PD | c.544C= (p.Arg182=) c.547C= (p.Arg183=) c.407C= c.410C= c.424C= (p.Arg142=) c.*386C= (n.*386C=) c.634C= (p.Arg212=) c.637C= (p.Arg213=) | |
| X | g.154534438G>T | CA519305839 | G6PD | c.544C>A (p.Arg182=) c.547C>A (p.Arg183=) c.407C>A c.410C>A c.424C>A (p.Arg142=) c.*386C>A (n.*386C>A) c.634C>A (p.Arg212=) c.637C>A (p.Arg213=) | |
| X | g.154534438_154534439insC | CA2536970846 | G6PD | c.543_544insG (p.Arg182AlafsTer12) c.546_547insG (p.Arg183AlafsTer12) c.406_407insG c.409_410insG c.423_424insG (p.Arg142AlafsTer12) c.*385_*386insG (n.*385_*386insG) c.633_634insG (p.Arg212AlafsTer12) c.636_637insG (p.Arg213AlafsTer12) | |
| X | g.154534439G>A | CA519305841 | G6PD | c.543C>T (p.Asp181=) c.546C>T (p.Asp182=) c.406C>T c.409C>T c.423C>T (p.Asp141=) c.*385C>T (n.*385C>T) c.633C>T (p.Asp211=) c.636C>T (p.Asp212=) | |
| X | g.154534439G>C | CA415238022 | G6PD | c.543C>G (p.Asp181Glu) c.546C>G (p.Asp182Glu) c.406C>G c.409C>G c.423C>G (p.Asp141Glu) c.*385C>G (n.*385C>G) c.633C>G (p.Asp211Glu) c.636C>G (p.Asp212Glu) | |
| X | g.154534439G>T | CA415238023 | G6PD | c.543C>A (p.Asp181Glu) c.546C>A (p.Asp182Glu) c.406C>A c.409C>A c.423C>A (p.Asp141Glu) c.*385C>A (n.*385C>A) c.633C>A (p.Asp211Glu) c.636C>A (p.Asp212Glu) | |
| X | g.154534439_154534440del | CA2695146957 | G6PD | c.542_543del (p.Asp181AlafsTer12) c.545_546del (p.Asp182AlafsTer12) c.405_406del c.408_409del c.422_423del (p.Asp141AlafsTer12) c.*384_*385del (n.*384_*385del) c.632_633del (p.Asp211AlafsTer12) c.635_636del (p.Asp212AlafsTer12) | gnomAD v4 |
| X | g.154534439_154534440insAC | CA2501122804 | G6PD | c.542_543insGT (p.Asp181GlufsTer?) c.545_546insGT (p.Asp182GlufsTer?) c.405_406insGT c.408_409insGT c.422_423insGT (p.Asp141GlufsTer?) c.*384_*385insGT (n.*384_*385insGT) c.632_633insGT (p.Asp211GlufsTer?) c.635_636insGT (p.Asp212GlufsTer?) | |
| X | g.154534439_154534440insCTTC | CA2512603228 | G6PD | c.542_543insGAAG (p.Asp181GlufsTer14) c.545_546insGAAG (p.Asp182GlufsTer14) c.405_406insGAAG c.408_409insGAAG c.422_423insGAAG (p.Asp141GlufsTer14) c.*384_*385insGAAG (n.*384_*385insGAAG) c.632_633insGAAG (p.Asp211GlufsTer14) c.635_636insGAAG (p.Asp212GlufsTer14) | |
| X | g.154534440T>A | CA130188 | G6PD | c.542A>T (p.Asp181Val) c.545A>T (p.Asp182Val) c.405A>T c.408A>T c.422A>T (p.Asp141Val) c.*384A>T (n.*384A>T) c.632A>T (p.Asp211Val) c.635A>T (p.Asp212Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.[154534440T>A;154535277T>C] | CA033058 | G6PD | c.[376A>G;542A>T] (p.[Asn126Asp;Asp181Val]) c.[376A>G;545A>T] (p.[Asn126Asp;Asp182Val]) c.[239A>G;405A>T] c.[239A>G;408A>T] c.[256A>G;422A>T] (p.[Asn86Asp;Asp141Val]) c.[*218A>G;*384A>T] (n.[*218A>G;*384A>T]) c.[466A>G;632A>T] (p.[Asn156Asp;Asp211Val]) c.[466A>G;635A>T] (p.[Asn156Asp;Asp212Val]) | ClinVar |
| X | g.154534440T>C | CA415238026 | G6PD | c.542A>G (p.Asp181Gly) c.545A>G (p.Asp182Gly) c.405A>G c.408A>G c.422A>G (p.Asp141Gly) c.*384A>G (n.*384A>G) c.632A>G (p.Asp211Gly) c.635A>G (p.Asp212Gly) | |
| X | g.154534440T>G | CA415238027 | G6PD | c.542A>C (p.Asp181Ala) c.545A>C (p.Asp182Ala) c.405A>C c.408A>C c.422A>C (p.Asp141Ala) c.*384A>C (n.*384A>C) c.632A>C (p.Asp211Ala) c.635A>C (p.Asp212Ala) | dbSNP |
| X | g.154534440T= | CA2466724188 | G6PD | c.542A= (p.Asp181=) c.545A= (p.Asp182=) c.405A= c.408A= c.422A= (p.Asp141=) c.*384A= (n.*384A=) c.632A= (p.Asp211=) c.635A= (p.Asp212=) | |
| X | g.154534440_154534441del | CA2566756279 | G6PD | c.541_542del (p.Asp181ProfsTer12) c.544_545del (p.Asp182ProfsTer12) c.404_405del c.407_408del c.421_422del (p.Asp141ProfsTer12) c.*383_*384del (n.*383_*384del) c.631_632del (p.Asp211ProfsTer12) c.634_635del (p.Asp212ProfsTer12) | |
| X | g.154534440_154534444del | CA2568133690 | G6PD | c.538_542del (p.Ser180ProfsTer12) c.541_545del (p.Ser181ProfsTer12) c.401_405del c.404_408del c.418_422del (p.Ser140ProfsTer12) c.*380_*384del (n.*380_*384del) c.628_632del (p.Ser210ProfsTer12) c.631_635del (p.Ser211ProfsTer12) | |
| X | g.154534440_154534441insG | CA2530963268 | G6PD | c.541_542insC (p.Asp181AlafsTer13) c.544_545insC (p.Asp182AlafsTer13) c.404_405insC c.407_408insC c.421_422insC (p.Asp141AlafsTer13) c.*383_*384insC (n.*383_*384insC) c.631_632insC (p.Asp211AlafsTer13) c.634_635insC (p.Asp212AlafsTer13) | |
| X | g.154534441C>A | CA415238028 | G6PD | c.541G>T (p.Asp181Tyr) c.544G>T (p.Asp182Tyr) c.404G>T c.407G>T c.421G>T (p.Asp141Tyr) c.*383G>T (n.*383G>T) c.631G>T (p.Asp211Tyr) c.634G>T (p.Asp212Tyr) | dbSNP |
| X | g.154534441C= | CA2466724189 | G6PD | c.541G= (p.Asp181=) c.544G= (p.Asp182=) c.404G= c.407G= c.421G= (p.Asp141=) c.*383G= (n.*383G=) c.631G= (p.Asp211=) c.634G= (p.Asp212=) | |
| X | g.154534441C>G | CA415238029 | G6PD | c.541G>C (p.Asp181His) c.544G>C (p.Asp182His) c.404G>C c.407G>C c.421G>C (p.Asp141His) c.*383G>C (n.*383G>C) c.631G>C (p.Asp211His) c.634G>C (p.Asp212His) | |
| X | g.154534441C>T | CA415238031 | G6PD | c.541G>A (p.Asp181Asn) c.544G>A (p.Asp182Asn) c.404G>A c.407G>A c.421G>A (p.Asp141Asn) c.*383G>A (n.*383G>A) c.631G>A (p.Asp211Asn) c.634G>A (p.Asp212Asn) | |
| X | g.154534441_154534442del | CA2539998402 | G6PD | c.540_541del (p.Asp181ProfsTer12) c.543_544del (p.Asp182ProfsTer12) c.403_404del c.406_407del c.420_421del (p.Asp141ProfsTer12) c.*382_*383del (n.*382_*383del) c.630_631del (p.Asp211ProfsTer12) c.633_634del (p.Asp212ProfsTer12) | |
| X | g.154534442del | CA2511487198 | G6PD | c.540del (p.Asp181ThrfsTer?) c.543del (p.Asp182ThrfsTer?) c.403del c.406del c.420del (p.Asp141ThrfsTer?) c.*382del (n.*382del) c.630del (p.Asp211ThrfsTer?) c.633del (p.Asp212ThrfsTer?) | |
| X | g.154534442A>C | CA519305851 | G6PD | c.540T>G (p.Ser180=) c.543T>G (p.Ser181=) c.403T>G c.406T>G c.420T>G (p.Ser140=) c.*382T>G (n.*382T>G) c.630T>G (p.Ser210=) c.633T>G (p.Ser211=) | |
| X | g.154534442A>G | CA519305848 | G6PD | c.540T>C (p.Ser180=) c.543T>C (p.Ser181=) c.403T>C c.406T>C c.420T>C (p.Ser140=) c.*382T>C (n.*382T>C) c.630T>C (p.Ser210=) c.633T>C (p.Ser211=) | |
| X | g.154534442A>T | CA519305849 | G6PD | c.540T>A (p.Ser180=) c.543T>A (p.Ser181=) c.403T>A c.406T>A c.420T>A (p.Ser140=) c.*382T>A (n.*382T>A) c.630T>A (p.Ser210=) c.633T>A (p.Ser211=) | |
| X | g.154534442_154534444del | CA2568373636 | G6PD | c.538_540del (p.Ser180del) c.541_543del (p.Ser181del) c.401_403del c.404_406del c.418_420del (p.Ser140del) c.*380_*382del (n.*380_*382del) c.628_630del (p.Ser210del) c.631_633del (p.Ser211del) | |
| X | g.154534442_154534443insTC | CA2565957042 | G6PD | c.539_540insGA (p.Asp181MetfsTer?) c.542_543insGA (p.Asp182MetfsTer?) c.402_403insGA c.405_406insGA c.419_420insGA (p.Asp141MetfsTer?) c.*381_*382insGA (n.*381_*382insGA) c.629_630insGA (p.Asp211MetfsTer?) c.632_633insGA (p.Asp212MetfsTer?) | |
| X | g.154534443G>A | CA415238033 | G6PD | c.539C>T (p.Ser180Phe) c.542C>T (p.Ser181Phe) c.402C>T c.405C>T c.419C>T (p.Ser140Phe) c.*381C>T (n.*381C>T) c.629C>T (p.Ser210Phe) c.632C>T (p.Ser211Phe) | COSMIC COSMIC COSMIC |
| X | g.154534443G>C | CA415238035 | G6PD | c.539C>G (p.Ser180Cys) c.542C>G (p.Ser181Cys) c.402C>G c.405C>G c.419C>G (p.Ser140Cys) c.*381C>G (n.*381C>G) c.629C>G (p.Ser210Cys) c.632C>G (p.Ser211Cys) | |
| X | g.154534443G>T | CA415238036 | G6PD | c.539C>A (p.Ser180Tyr) c.542C>A (p.Ser181Tyr) c.402C>A c.405C>A c.419C>A (p.Ser140Tyr) c.*381C>A (n.*381C>A) c.629C>A (p.Ser210Tyr) c.632C>A (p.Ser211Tyr) | |
| X | g.154534444del | CA2516744237 | G6PD | c.538del (p.Ser180LeufsTer?) c.541del (p.Ser181LeufsTer?) c.401del c.404del c.418del (p.Ser140LeufsTer?) c.*380del (n.*380del) c.628del (p.Ser210LeufsTer?) c.631del (p.Ser211LeufsTer?) | |
| X | g.154534444A>C | CA415238038 | G6PD | c.538T>G (p.Ser180Ala) c.541T>G (p.Ser181Ala) c.401T>G c.404T>G c.418T>G (p.Ser140Ala) c.*380T>G (n.*380T>G) c.628T>G (p.Ser210Ala) c.631T>G (p.Ser211Ala) | |
| X | g.154534444A>G | CA415238040 | G6PD | c.538T>C (p.Ser180Pro) c.541T>C (p.Ser181Pro) c.401T>C c.404T>C c.418T>C (p.Ser140Pro) c.*380T>C (n.*380T>C) c.628T>C (p.Ser210Pro) c.631T>C (p.Ser211Pro) | |
| X | g.154534444A>T | CA415238037 | G6PD | c.538T>A (p.Ser180Thr) c.541T>A (p.Ser181Thr) c.401T>A c.404T>A c.418T>A (p.Ser140Thr) c.*380T>A (n.*380T>A) c.628T>A (p.Ser210Thr) c.631T>A (p.Ser211Thr) | |
| X | g.154534445del | CA2508425588 | G6PD | c.537del (p.Ser180LeufsTer?) c.540del (p.Ser181LeufsTer?) c.400del c.403del c.417del (p.Ser140LeufsTer?) c.*379del (n.*379del) c.627del (p.Ser210LeufsTer?) c.630del (p.Ser211LeufsTer?) | |
| X | g.154534445G>A | CA10566221 | G6PD | c.537C>T (p.Ser179=) c.540C>T (p.Ser180=) c.400C>T c.403C>T c.417C>T (p.Ser139=) c.*379C>T (n.*379C>T) c.627C>T (p.Ser209=) c.630C>T (p.Ser210=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154534445G>C | CA415238042 | G6PD | c.537C>G (p.Ser179Arg) c.540C>G (p.Ser180Arg) c.400C>G c.403C>G c.417C>G (p.Ser139Arg) c.*379C>G (n.*379C>G) c.627C>G (p.Ser209Arg) c.630C>G (p.Ser210Arg) | |
| X | g.154534445G= | CA2466724190 | G6PD | c.537C= (p.Ser179=) c.540C= (p.Ser180=) c.400C= c.403C= c.417C= (p.Ser139=) c.*379C= (n.*379C=) c.627C= (p.Ser209=) c.630C= (p.Ser210=) | |
| X | g.154534445G>T | CA415238043 | G6PD | c.537C>A (p.Ser179Arg) c.540C>A (p.Ser180Arg) c.400C>A c.403C>A c.417C>A (p.Ser139Arg) c.*379C>A (n.*379C>A) c.627C>A (p.Ser209Arg) c.630C>A (p.Ser210Arg) | |
| X | g.154534446C>A | CA415238045 | G6PD | c.536G>T (p.Ser179Ile) c.539G>T (p.Ser180Ile) c.399G>T c.402G>T c.416G>T (p.Ser139Ile) c.*378G>T (n.*378G>T) c.626G>T (p.Ser209Ile) c.629G>T (p.Ser210Ile) | |
| X | g.154534446C= | CA2466724191 | G6PD | c.536G= (p.Ser179=) c.539G= (p.Ser180=) c.399G= c.402G= c.416G= (p.Ser139=) c.*378G= (n.*378G=) c.626G= (p.Ser209=) c.629G= (p.Ser210=) | |
| X | g.154534446C>G | CA415238047 | G6PD | c.536G>C (p.Ser179Thr) c.539G>C (p.Ser180Thr) c.399G>C c.402G>C c.416G>C (p.Ser139Thr) c.*378G>C (n.*378G>C) c.626G>C (p.Ser209Thr) c.629G>C (p.Ser210Thr) | |
| X | g.154534446C>T | CA337317649 | G6PD | c.536G>A (p.Ser179Asn) c.539G>A (p.Ser180Asn) c.399G>A c.402G>A c.416G>A (p.Ser139Asn) c.*378G>A (n.*378G>A) c.626G>A (p.Ser209Asn) c.629G>A (p.Ser210Asn) | ClinVar dbSNP gnomAD v4 |