UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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_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.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 |
| X | g.154534447T>A | CA415238050 | G6PD | c.535A>T (p.Ser179Cys) c.538A>T (p.Ser180Cys) c.398A>T c.401A>T c.415A>T (p.Ser139Cys) c.*377A>T (n.*377A>T) c.625A>T (p.Ser209Cys) c.628A>T (p.Ser210Cys) | |
| X | g.154534447T>C | CA415238051 | G6PD | c.535A>G (p.Ser179Gly) c.538A>G (p.Ser180Gly) c.398A>G c.401A>G c.415A>G (p.Ser139Gly) c.*377A>G (n.*377A>G) c.625A>G (p.Ser209Gly) c.628A>G (p.Ser210Gly) | |
| X | g.154534447T>G | CA415238052 | G6PD | c.535A>C (p.Ser179Arg) c.538A>C (p.Ser180Arg) c.398A>C c.401A>C c.415A>C (p.Ser139Arg) c.*377A>C (n.*377A>C) c.625A>C (p.Ser209Arg) c.628A>C (p.Ser210Arg) | |
| X | g.154534448C>A | CA415238053 | G6PD | c.534G>T (p.Gln178His) c.537G>T (p.Gln179His) c.397G>T c.400G>T c.414G>T (p.Gln138His) c.*376G>T (n.*376G>T) c.624G>T (p.Gln208His) c.627G>T (p.Gln209His) | |
| X | g.154534448C>G | CA415238055 | G6PD | c.534G>C (p.Gln178His) c.537G>C (p.Gln179His) c.397G>C c.400G>C c.414G>C (p.Gln138His) c.*376G>C (n.*376G>C) c.624G>C (p.Gln208His) c.627G>C (p.Gln209His) | |
| X | g.154534448C>T | CA519305866 | G6PD | c.534G>A (p.Gln178=) c.537G>A (p.Gln179=) c.397G>A c.400G>A c.414G>A (p.Gln138=) c.*376G>A (n.*376G>A) c.624G>A (p.Gln208=) c.627G>A (p.Gln209=) | |
| X | g.154534449del | CA2560679542 | G6PD | c.533del (p.Gln178ArgfsTer?) c.536del (p.Gln179ArgfsTer?) c.396del c.399del c.413del (p.Gln138ArgfsTer?) c.*375del (n.*375del) c.623del (p.Gln208ArgfsTer?) c.626del (p.Gln209ArgfsTer?) | |
| X | g.154534449T>A | CA415238057 | G6PD | c.533A>T (p.Gln178Leu) c.536A>T (p.Gln179Leu) c.396A>T c.399A>T c.413A>T (p.Gln138Leu) c.*375A>T (n.*375A>T) c.623A>T (p.Gln208Leu) c.626A>T (p.Gln209Leu) | |
| X | g.154534449T>C | CA415238058 | G6PD | c.533A>G (p.Gln178Arg) c.536A>G (p.Gln179Arg) c.396A>G c.399A>G c.413A>G (p.Gln138Arg) c.*375A>G (n.*375A>G) c.623A>G (p.Gln208Arg) c.626A>G (p.Gln209Arg) | |
| X | g.154534449T>G | CA415238059 | G6PD | c.533A>C (p.Gln178Pro) c.536A>C (p.Gln179Pro) c.396A>C c.399A>C c.413A>C (p.Gln138Pro) c.*375A>C (n.*375A>C) c.623A>C (p.Gln208Pro) c.626A>C (p.Gln209Pro) | |
| X | g.154534449_154534450insCGTA | CA2544963175 | G6PD | c.532_533insTACG (p.Gln178LeufsTer5) c.535_536insTACG (p.Gln179LeufsTer5) c.395_396insTACG c.398_399insTACG c.412_413insTACG (p.Gln138LeufsTer5) c.*374_*375insTACG (n.*374_*375insTACG) c.622_623insTACG (p.Gln208LeufsTer5) c.625_626insTACG (p.Gln209LeufsTer5) | |
| X | g.154534449_154534450insCGGGC | CA2515043978 | G6PD | c.532_533insGCCCG (p.Gln178ArgfsTer?) c.535_536insGCCCG (p.Gln179ArgfsTer?) c.395_396insGCCCG c.398_399insGCCCG c.412_413insGCCCG (p.Gln138ArgfsTer?) c.*374_*375insGCCCG (n.*374_*375insGCCCG) c.622_623insGCCCG (p.Gln208ArgfsTer?) c.625_626insGCCCG (p.Gln209ArgfsTer?) | |
| X | g.154534449_154534450insCGGGCGCTGGC | CA2509311242 | G6PD | c.532_533insGCCAGCGCCCG (p.Gln178ArgfsTer?) c.535_536insGCCAGCGCCCG (p.Gln179ArgfsTer?) c.395_396insGCCAGCGCCCG c.398_399insGCCAGCGCCCG c.412_413insGCCAGCGCCCG (p.Gln138ArgfsTer?) c.*374_*375insGCCAGCGCCCG (n.*374_*375insGCCAGCGCCCG) c.622_623insGCCAGCGCCCG (p.Gln208ArgfsTer?) c.625_626insGCCAGCGCCCG (p.Gln209ArgfsTer?) | |
| X | g.154534450G>A | CA415238061 | G6PD | c.532C>T (p.Gln178Ter) c.535C>T (p.Gln179Ter) c.395C>T c.398C>T c.412C>T (p.Gln138Ter) c.*374C>T (n.*374C>T) c.622C>T (p.Gln208Ter) c.625C>T (p.Gln209Ter) | |
| X | g.154534450G>C | CA415238064 | G6PD | c.532C>G (p.Gln178Glu) c.535C>G (p.Gln179Glu) c.395C>G c.398C>G c.412C>G (p.Gln138Glu) c.*374C>G (n.*374C>G) c.622C>G (p.Gln208Glu) c.625C>G (p.Gln209Glu) | |
| X | g.154534450G>T | CA415238062 | G6PD | c.532C>A (p.Gln178Lys) c.535C>A (p.Gln179Lys) c.395C>A c.398C>A c.412C>A (p.Gln138Lys) c.*374C>A (n.*374C>A) c.622C>A (p.Gln208Lys) c.625C>A (p.Gln209Lys) | |
| X | g.154534450_154534451insGCG | CA2539139805 | G6PD | c.532_533insGCC (p.Leu177_Gln178insArg) c.535_536insGCC (p.Leu178_Gln179insArg) c.395_396insGCC c.398_399insGCC c.412_413insGCC (p.Leu137_Gln138insArg) c.*374_*375insGCC (n.*374_*375insGCC) c.622_623insGCC (p.Leu207_Gln208insArg) c.625_626insGCC (p.Leu208_Gln209insArg) | |
| X | g.154534451del | CA2569032902 | G6PD | c.531del (p.Gln178ArgfsTer?) c.534del (p.Gln179ArgfsTer?) c.394del c.397del c.411del (p.Gln138ArgfsTer?) c.*373del (n.*373del) c.621del (p.Gln208ArgfsTer?) c.624del (p.Gln209ArgfsTer?) | |
| X | g.154534451C>A | CA519305873 | G6PD | c.531G>T (p.Leu177=) c.534G>T (p.Leu178=) c.394G>T c.397G>T c.411G>T (p.Leu137=) c.*373G>T (n.*373G>T) c.621G>T (p.Leu207=) c.624G>T (p.Leu208=) | |
| X | g.154534451C>G | CA519305875 | G6PD | c.531G>C (p.Leu177=) c.534G>C (p.Leu178=) c.394G>C c.397G>C c.411G>C (p.Leu137=) c.*373G>C (n.*373G>C) c.621G>C (p.Leu207=) c.624G>C (p.Leu208=) | |
| X | g.154534451C>T | CA519305876 | G6PD | c.531G>A (p.Leu177=) c.534G>A (p.Leu178=) c.394G>A c.397G>A c.411G>A (p.Leu137=) c.*373G>A (n.*373G>A) c.621G>A (p.Leu207=) c.624G>A (p.Leu208=) | |
| X | g.154534451_154534452insCGAA | CA2512652048 | G6PD | c.530_531insTTCG (p.Gln178SerfsTer5) c.533_534insTTCG (p.Gln179SerfsTer5) c.393_394insTTCG c.396_397insTTCG c.410_411insTTCG (p.Gln138SerfsTer5) c.*372_*373insTTCG (n.*372_*373insTTCG) c.620_621insTTCG (p.Gln208SerfsTer5) c.623_624insTTCG (p.Gln209SerfsTer5) | |
| X | g.154534452del | CA2534596319 | G6PD | c.530del (p.Leu177ArgfsTer?) c.533del (p.Leu178ArgfsTer?) c.393del c.396del c.410del (p.Leu137ArgfsTer?) c.*372del (n.*372del) c.620del (p.Leu207ArgfsTer?) c.623del (p.Leu208ArgfsTer?) | |
| X | g.154534452A= | CA2466724192 | G6PD | c.530T= (p.Leu177=) c.533T= (p.Leu178=) c.393T= c.396T= c.410T= (p.Leu137=) c.*372T= (n.*372T=) c.620T= (p.Leu207=) c.623T= (p.Leu208=) | |
| X | g.154534452A>C | CA415238066 | G6PD | c.530T>G (p.Leu177Arg) c.533T>G (p.Leu178Arg) c.393T>G c.396T>G c.410T>G (p.Leu137Arg) c.*372T>G (n.*372T>G) c.620T>G (p.Leu207Arg) c.623T>G (p.Leu208Arg) | |
| X | g.154534452A>G | CA415238067 | G6PD | c.530T>C (p.Leu177Pro) c.533T>C (p.Leu178Pro) c.393T>C c.396T>C c.410T>C (p.Leu137Pro) c.*372T>C (n.*372T>C) c.620T>C (p.Leu207Pro) c.623T>C (p.Leu208Pro) | |
| X | g.154534452A>T | CA415238068 | G6PD | c.530T>A (p.Leu177Gln) c.533T>A (p.Leu178Gln) c.393T>A c.396T>A c.410T>A (p.Leu137Gln) c.*372T>A (n.*372T>A) c.620T>A (p.Leu207Gln) c.623T>A (p.Leu208Gln) | dbSNP |
| X | g.154534453G>A | CA519305880 | G6PD | c.529C>T (p.Leu177=) c.532C>T (p.Leu178=) c.392C>T c.395C>T c.409C>T (p.Leu137=) c.*371C>T (n.*371C>T) c.619C>T (p.Leu207=) c.622C>T (p.Leu208=) | gnomAD v4 |
| X | g.154534453G>C | CA415238070 | G6PD | c.529C>G (p.Leu177Val) c.532C>G (p.Leu178Val) c.392C>G c.395C>G c.409C>G (p.Leu137Val) c.*371C>G (n.*371C>G) c.619C>G (p.Leu207Val) c.622C>G (p.Leu208Val) | |
| X | g.154534453G>T | CA415238072 | G6PD | c.529C>A (p.Leu177Met) c.532C>A (p.Leu178Met) c.392C>A c.395C>A c.409C>A (p.Leu137Met) c.*371C>A (n.*371C>A) c.619C>A (p.Leu207Met) c.622C>A (p.Leu208Met) | gnomAD v4 |
| X | g.154534454G>A | CA519305883 | G6PD | c.528C>T (p.Asp176=) c.531C>T (p.Asp177=) c.391C>T c.394C>T c.408C>T (p.Asp136=) c.*370C>T (n.*370C>T) c.618C>T (p.Asp206=) c.621C>T (p.Asp207=) | gnomAD v4 |
| X | g.154534454G>C | CA415238074 | G6PD | c.528C>G (p.Asp176Glu) c.531C>G (p.Asp177Glu) c.391C>G c.394C>G c.408C>G (p.Asp136Glu) c.*370C>G (n.*370C>G) c.618C>G (p.Asp206Glu) c.621C>G (p.Asp207Glu) | |
| X | g.154534454G>T | CA415238075 | G6PD | c.528C>A (p.Asp176Glu) c.531C>A (p.Asp177Glu) c.391C>A c.394C>A c.408C>A (p.Asp136Glu) c.*370C>A (n.*370C>A) c.618C>A (p.Asp206Glu) c.621C>A (p.Asp207Glu) | |
| X | g.154534455T>A | CA415238076 | G6PD | c.527A>T (p.Asp176Val) c.530A>T (p.Asp177Val) c.390A>T c.393A>T c.407A>T (p.Asp136Val) c.*369A>T (n.*369A>T) c.617A>T (p.Asp206Val) c.620A>T (p.Asp207Val) | |
| X | g.154534455T>C | CA415238078 | G6PD | c.527A>G (p.Asp176Gly) c.530A>G (p.Asp177Gly) c.390A>G c.393A>G c.407A>G (p.Asp136Gly) c.*369A>G (n.*369A>G) c.617A>G (p.Asp206Gly) c.620A>G (p.Asp207Gly) | ClinVar |
| X | g.154534455T>G | CA415238080 | G6PD | c.527A>C (p.Asp176Ala) c.530A>C (p.Asp177Ala) c.390A>C c.393A>C c.407A>C (p.Asp136Ala) c.*369A>C (n.*369A>C) c.617A>C (p.Asp206Ala) c.620A>C (p.Asp207Ala) | |
| X | g.154534455T= | CA2740130060 | G6PD | c.527A= (p.Asp176=) c.530A= (p.Asp177=) c.390A= c.393A= c.407A= (p.Asp136=) c.*369A= (n.*369A=) c.617A= (p.Asp206=) c.620A= (p.Asp207=) | |
| X | g.154534456C>A | CA415238085 | G6PD | c.526G>T (p.Asp176Tyr) c.529G>T (p.Asp177Tyr) c.389G>T c.392G>T c.406G>T (p.Asp136Tyr) c.*368G>T (n.*368G>T) c.616G>T (p.Asp206Tyr) c.619G>T (p.Asp207Tyr) | |
| X | g.154534456C>G | CA415238083 | G6PD | c.526G>C (p.Asp176His) c.529G>C (p.Asp177His) c.389G>C c.392G>C c.406G>C (p.Asp136His) c.*368G>C (n.*368G>C) c.616G>C (p.Asp206His) c.619G>C (p.Asp207His) | |
| X | g.154534456C>T | CA415238081 | G6PD | c.526G>A (p.Asp176Asn) c.529G>A (p.Asp177Asn) c.389G>A c.392G>A c.406G>A (p.Asp136Asn) c.*368G>A (n.*368G>A) c.616G>A (p.Asp206Asn) c.619G>A (p.Asp207Asn) | COSMIC COSMIC COSMIC |
| X | g.154534457C>A | CA415238086 | G6PD | c.525G>T (p.Arg175Ser) c.528G>T (p.Arg176Ser) c.388G>T c.391G>T c.405G>T (p.Arg135Ser) c.*367G>T (n.*367G>T) c.615G>T (p.Arg205Ser) c.618G>T (p.Arg206Ser) | |
| X | g.154534457C>G | CA415238088 | G6PD | c.525G>C (p.Arg175Ser) c.528G>C (p.Arg176Ser) c.388G>C c.391G>C c.405G>C (p.Arg135Ser) c.*367G>C (n.*367G>C) c.615G>C (p.Arg205Ser) c.618G>C (p.Arg206Ser) | gnomAD v4 |
| X | g.154534457C>T | CA519305893 | G6PD | c.525G>A (p.Arg175=) c.528G>A (p.Arg176=) c.388G>A c.391G>A c.405G>A (p.Arg135=) c.*367G>A (n.*367G>A) c.615G>A (p.Arg205=) c.618G>A (p.Arg206=) | |
| X | g.154534458C>A | CA415238089 | G6PD | c.524G>T (p.Arg175Met) c.527G>T (p.Arg176Met) c.387G>T c.390G>T c.404G>T (p.Arg135Met) c.*366G>T (n.*366G>T) c.614G>T (p.Arg205Met) c.617G>T (p.Arg206Met) | |
| X | g.154534458C= | CA2466724193 | G6PD | c.524G= (p.Arg175=) c.527G= (p.Arg176=) c.387G= c.390G= c.404G= (p.Arg135=) c.*366G= (n.*366G=) c.614G= (p.Arg205=) c.617G= (p.Arg206=) | |
| X | g.154534458C>G | CA415238091 | G6PD | c.524G>C (p.Arg175Thr) c.527G>C (p.Arg176Thr) c.387G>C c.390G>C c.404G>C (p.Arg135Thr) c.*366G>C (n.*366G>C) c.614G>C (p.Arg205Thr) c.617G>C (p.Arg206Thr) | gnomAD v4 |
| X | g.154534458C>T | CA415238092 | G6PD | c.524G>A (p.Arg175Lys) c.527G>A (p.Arg176Lys) c.387G>A c.390G>A c.404G>A (p.Arg135Lys) c.*366G>A (n.*366G>A) c.614G>A (p.Arg205Lys) c.617G>A (p.Arg206Lys) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154534459T>A | CA415238094 | G6PD | c.523A>T (p.Arg175Trp) c.526A>T (p.Arg176Trp) c.386A>T c.389A>T c.403A>T (p.Arg135Trp) c.*365A>T (n.*365A>T) c.613A>T (p.Arg205Trp) c.616A>T (p.Arg206Trp) | |
| X | g.154534459T>C | CA415238096 | G6PD | c.523A>G (p.Arg175Gly) c.526A>G (p.Arg176Gly) c.386A>G c.389A>G c.403A>G (p.Arg135Gly) c.*365A>G (n.*365A>G) c.613A>G (p.Arg205Gly) c.616A>G (p.Arg206Gly) | |
| X | g.154534459T>G | CA519305898 | G6PD | c.523A>C (p.Arg175=) c.526A>C (p.Arg176=) c.386A>C c.389A>C c.403A>C (p.Arg135=) c.*365A>C (n.*365A>C) c.613A>C (p.Arg205=) c.616A>C (p.Arg206=) | |
| X | g.154534460C>A | CA519305900 | G6PD | c.522G>T (p.Gly174=) c.525G>T (p.Gly175=) c.385G>T c.388G>T c.402G>T (p.Gly134=) c.*364G>T (n.*364G>T) c.612G>T (p.Gly204=) c.615G>T (p.Gly205=) | |
| X | g.154534460C>G | CA519305902 | G6PD | c.522G>C (p.Gly174=) c.525G>C (p.Gly175=) c.385G>C c.388G>C c.402G>C (p.Gly134=) c.*364G>C (n.*364G>C) c.612G>C (p.Gly204=) c.615G>C (p.Gly205=) | |
| X | g.154534460C>T | CA519305903 | G6PD | c.522G>A (p.Gly174=) c.525G>A (p.Gly175=) c.385G>A c.388G>A c.402G>A (p.Gly134=) c.*364G>A (n.*364G>A) c.612G>A (p.Gly204=) c.615G>A (p.Gly205=) | gnomAD v4 |
| X | g.154534460_154534462del | CA2695237064 | G6PD | c.520_522del (p.Gly174del) c.523_525del (p.Gly175del) c.383_385del c.386_388del c.400_402del (p.Gly134del) c.*362_*364del (n.*362_*364del) c.610_612del (p.Gly204del) c.613_615del (p.Gly205del) | |
| X | g.154534461C>A | CA415238097 | G6PD | c.521G>T (p.Gly174Val) c.524G>T (p.Gly175Val) c.384G>T c.387G>T c.401G>T (p.Gly134Val) c.*363G>T (n.*363G>T) c.611G>T (p.Gly204Val) c.614G>T (p.Gly205Val) | |
| X | g.154534461C>G | CA415238099 | G6PD | c.521G>C (p.Gly174Ala) c.524G>C (p.Gly175Ala) c.384G>C c.387G>C c.401G>C (p.Gly134Ala) c.*363G>C (n.*363G>C) c.611G>C (p.Gly204Ala) c.614G>C (p.Gly205Ala) | |
| X | g.154534461C>T | CA415238100 | G6PD | c.521G>A (p.Gly174Glu) c.524G>A (p.Gly175Glu) c.384G>A c.387G>A c.401G>A (p.Gly134Glu) c.*363G>A (n.*363G>A) c.611G>A (p.Gly204Glu) c.614G>A (p.Gly205Glu) | |
| X | g.154534462C>A | CA415238102 | G6PD | c.520G>T (p.Gly174Trp) c.523G>T (p.Gly175Trp) c.383G>T c.386G>T c.400G>T (p.Gly134Trp) c.*362G>T (n.*362G>T) c.610G>T (p.Gly204Trp) c.613G>T (p.Gly205Trp) | |
| X | g.154534462C>G | CA415238103 | G6PD | c.520G>C (p.Gly174Arg) c.523G>C (p.Gly175Arg) c.383G>C c.386G>C c.400G>C (p.Gly134Arg) c.*362G>C (n.*362G>C) c.610G>C (p.Gly204Arg) c.613G>C (p.Gly205Arg) | |
| X | g.154534462C>T | CA415238104 | G6PD | c.520G>A (p.Gly174Arg) c.523G>A (p.Gly175Arg) c.383G>A c.386G>A c.400G>A (p.Gly134Arg) c.*362G>A (n.*362G>A) c.610G>A (p.Gly204Arg) c.613G>A (p.Gly205Arg) | |
| X | g.154534463G>A | CA10566222 | G6PD | c.519C>T (p.Phe173=) c.522C>T (p.Phe174=) c.382C>T c.385C>T c.399C>T (p.Phe133=) c.*361C>T (n.*361C>T) c.609C>T (p.Phe203=) c.612C>T (p.Phe204=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| X | g.154534463G>C | CA415238108 | G6PD | c.519C>G (p.Phe173Leu) c.522C>G (p.Phe174Leu) c.382C>G c.385C>G c.399C>G (p.Phe133Leu) c.*361C>G (n.*361C>G) c.609C>G (p.Phe203Leu) c.612C>G (p.Phe204Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.154534463G= | CA2466724194 | G6PD | c.519C= (p.Phe173=) c.522C= (p.Phe174=) c.382C= c.385C= c.399C= (p.Phe133=) c.*361C= (n.*361C=) c.609C= (p.Phe203=) c.612C= (p.Phe204=) | |
| X | g.154534463G>T | CA415238107 | G6PD | c.519C>A (p.Phe173Leu) c.522C>A (p.Phe174Leu) c.382C>A c.385C>A c.399C>A (p.Phe133Leu) c.*361C>A (n.*361C>A) c.609C>A (p.Phe203Leu) c.612C>A (p.Phe204Leu) | |
| X | g.154534464A>C | CA415238109 | G6PD | c.518T>G (p.Phe173Cys) c.521T>G (p.Phe174Cys) c.381T>G c.384T>G c.398T>G (p.Phe133Cys) c.*360T>G (n.*360T>G) c.608T>G (p.Phe203Cys) c.611T>G (p.Phe204Cys) | |
| X | g.154534464A>G | CA415238110 | G6PD | c.518T>C (p.Phe173Ser) c.521T>C (p.Phe174Ser) c.381T>C c.384T>C c.398T>C (p.Phe133Ser) c.*360T>C (n.*360T>C) c.608T>C (p.Phe203Ser) c.611T>C (p.Phe204Ser) | |
| X | g.154534464A>T | CA415238112 | G6PD | c.518T>A (p.Phe173Tyr) c.521T>A (p.Phe174Tyr) c.381T>A c.384T>A c.398T>A (p.Phe133Tyr) c.*360T>A (n.*360T>A) c.608T>A (p.Phe203Tyr) c.611T>A (p.Phe204Tyr) | |
| X | g.154534465A= | CA2466724195 | G6PD | c.517T= (p.Phe173=) c.520T= (p.Phe174=) c.380T= c.383T= c.397T= (p.Phe133=) c.*359T= (n.*359T=) c.607T= (p.Phe203=) c.610T= (p.Phe204=) | |
| X | g.154534465A>C | CA415238114 | G6PD | c.517T>G (p.Phe173Val) c.520T>G (p.Phe174Val) c.380T>G c.383T>G c.397T>G (p.Phe133Val) c.*359T>G (n.*359T>G) c.607T>G (p.Phe203Val) c.610T>G (p.Phe204Val) | gnomAD v4 |
| X | g.154534465A>G | CA121033 | G6PD | c.517T>C (p.Phe173Leu) c.520T>C (p.Phe174Leu) c.380T>C c.383T>C c.397T>C (p.Phe133Leu) c.*359T>C (n.*359T>C) c.607T>C (p.Phe203Leu) c.610T>C (p.Phe204Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154534465A>T | CA415238115 | G6PD | c.517T>A (p.Phe173Ile) c.520T>A (p.Phe174Ile) c.380T>A c.383T>A c.397T>A (p.Phe133Ile) c.*359T>A (n.*359T>A) c.607T>A (p.Phe203Ile) c.610T>A (p.Phe204Ile) | |
| X | g.154534466G>A | CA10566223 | G6PD | c.516C>T (p.Pro172=) c.519C>T (p.Pro173=) c.379C>T c.382C>T c.396C>T (p.Pro132=) c.*358C>T (n.*358C>T) c.606C>T (p.Pro202=) c.609C>T (p.Pro203=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154534466G>C | CA519305918 | G6PD | c.516C>G (p.Pro172=) c.519C>G (p.Pro173=) c.379C>G c.382C>G c.396C>G (p.Pro132=) c.*358C>G (n.*358C>G) c.606C>G (p.Pro202=) c.609C>G (p.Pro203=) | |
| X | g.154534466G= | CA2466724196 | G6PD | c.516C= (p.Pro172=) c.519C= (p.Pro173=) c.379C= c.382C= c.396C= (p.Pro132=) c.*358C= (n.*358C=) c.606C= (p.Pro202=) c.609C= (p.Pro203=) | |
| X | g.154534466G>T | CA519305919 | G6PD | c.516C>A (p.Pro172=) c.519C>A (p.Pro173=) c.379C>A c.382C>A c.396C>A (p.Pro132=) c.*358C>A (n.*358C>A) c.606C>A (p.Pro202=) c.609C>A (p.Pro203=) | |
| X | g.154534467G>A | CA415238116 | G6PD | c.515C>T (p.Pro172Leu) c.518C>T (p.Pro173Leu) c.378C>T c.381C>T c.395C>T (p.Pro132Leu) c.*357C>T (n.*357C>T) c.605C>T (p.Pro202Leu) c.608C>T (p.Pro203Leu) | |
| X | g.154534467G>C | CA415238117 | G6PD | c.515C>G (p.Pro172Arg) c.518C>G (p.Pro173Arg) c.378C>G c.381C>G c.395C>G (p.Pro132Arg) c.*357C>G (n.*357C>G) c.605C>G (p.Pro202Arg) c.608C>G (p.Pro203Arg) | |
| X | g.154534467G>T | CA415238119 | G6PD | c.515C>A (p.Pro172His) c.518C>A (p.Pro173His) c.378C>A c.381C>A c.395C>A (p.Pro132His) c.*357C>A (n.*357C>A) c.605C>A (p.Pro202His) c.608C>A (p.Pro203His) | |
| X | g.154534468G>A | CA415238120 | G6PD | c.514C>T (p.Pro172Ser) c.517C>T (p.Pro173Ser) c.377C>T c.380C>T c.394C>T (p.Pro132Ser) c.*356C>T (n.*356C>T) c.604C>T (p.Pro202Ser) c.607C>T (p.Pro203Ser) | ClinVar |
| X | g.154534468G>C | CA415238122 | G6PD | c.514C>G (p.Pro172Ala) c.517C>G (p.Pro173Ala) c.377C>G c.380C>G c.394C>G (p.Pro132Ala) c.*356C>G (n.*356C>G) c.604C>G (p.Pro202Ala) c.607C>G (p.Pro203Ala) | |
| X | g.154534468G= | CA2740130061 | G6PD | c.514C= (p.Pro172=) c.517C= (p.Pro173=) c.377C= c.380C= c.394C= (p.Pro132=) c.*356C= (n.*356C=) c.604C= (p.Pro202=) c.607C= (p.Pro203=) | |
| X | g.154534468G>T | CA415238121 | G6PD | c.514C>A (p.Pro172Thr) c.517C>A (p.Pro173Thr) c.377C>A c.380C>A c.394C>A (p.Pro132Thr) c.*356C>A (n.*356C>A) c.604C>A (p.Pro202Thr) c.607C>A (p.Pro203Thr) | COSMIC COSMIC COSMIC |
| X | g.154534469C>A | CA415238123 | G6PD | c.513G>T (p.Lys171Asn) c.516G>T (p.Lys172Asn) c.376G>T c.379G>T c.393G>T (p.Lys131Asn) c.*355G>T (n.*355G>T) c.603G>T (p.Lys201Asn) c.606G>T (p.Lys202Asn) | |
| X | g.154534469C>G | CA415238124 | G6PD | c.513G>C (p.Lys171Asn) c.516G>C (p.Lys172Asn) c.376G>C c.379G>C c.393G>C (p.Lys131Asn) c.*355G>C (n.*355G>C) c.603G>C (p.Lys201Asn) c.606G>C (p.Lys202Asn) | |
| X | g.154534469C>T | CA519305927 | G6PD | c.513G>A (p.Lys171=) c.516G>A (p.Lys172=) c.376G>A c.379G>A c.393G>A (p.Lys131=) c.*355G>A (n.*355G>A) c.603G>A (p.Lys201=) c.606G>A (p.Lys202=) | |
| X | g.154534470T>A | CA415238126 | G6PD | c.512A>T (p.Lys171Met) c.515A>T (p.Lys172Met) c.375A>T c.378A>T c.392A>T (p.Lys131Met) c.*354A>T (n.*354A>T) c.602A>T (p.Lys201Met) c.605A>T (p.Lys202Met) | |
| X | g.154534470T>C | CA415238130 | G6PD | c.512A>G (p.Lys171Arg) c.515A>G (p.Lys172Arg) c.375A>G c.378A>G c.392A>G (p.Lys131Arg) c.*354A>G (n.*354A>G) c.602A>G (p.Lys201Arg) c.605A>G (p.Lys202Arg) | |
| X | g.154534470T>G | CA415238127 | G6PD | c.512A>C (p.Lys171Thr) c.515A>C (p.Lys172Thr) c.375A>C c.378A>C c.392A>C (p.Lys131Thr) c.*354A>C (n.*354A>C) c.602A>C (p.Lys201Thr) c.605A>C (p.Lys202Thr) | |
| X | g.154534471T>A | CA415238131 | G6PD | c.511A>T (p.Lys171Ter) c.514A>T (p.Lys172Ter) c.374A>T c.377A>T c.391A>T (p.Lys131Ter) c.*353A>T (n.*353A>T) c.601A>T (p.Lys201Ter) c.604A>T (p.Lys202Ter) | |
| X | g.154534471T>C | CA415238133 | G6PD | c.511A>G (p.Lys171Glu) c.514A>G (p.Lys172Glu) c.374A>G c.377A>G c.391A>G (p.Lys131Glu) c.*353A>G (n.*353A>G) c.601A>G (p.Lys201Glu) c.604A>G (p.Lys202Glu) | |
| X | g.154534471T>G | CA415238137 | G6PD | c.511A>C (p.Lys171Gln) c.514A>C (p.Lys172Gln) c.374A>C c.377A>C c.391A>C (p.Lys131Gln) c.*353A>C (n.*353A>C) c.601A>C (p.Lys201Gln) c.604A>C (p.Lys202Gln) | |
| X | g.154534472C>A | CA415238139 | G6PD | c.510G>T (p.Glu170Asp) c.513G>T (p.Glu171Asp) c.373G>T c.376G>T c.390G>T (p.Glu130Asp) c.*352G>T (n.*352G>T) c.600G>T (p.Glu200Asp) c.603G>T (p.Glu201Asp) | |
| X | g.154534472C= | CA2466724197 | G6PD | c.510G= (p.Glu170=) c.513G= (p.Glu171=) c.373G= c.376G= c.390G= (p.Glu130=) c.*352G= (n.*352G=) c.600G= (p.Glu200=) c.603G= (p.Glu201=) | |
| X | g.154534472C>G | CA415238140 | G6PD | c.510G>C (p.Glu170Asp) c.513G>C (p.Glu171Asp) c.373G>C c.376G>C c.390G>C (p.Glu130Asp) c.*352G>C (n.*352G>C) c.600G>C (p.Glu200Asp) c.603G>C (p.Glu201Asp) | |
| X | g.154534472C>T | CA519305936 | G6PD | c.510G>A (p.Glu170=) c.513G>A (p.Glu171=) c.373G>A c.376G>A c.390G>A (p.Glu130=) c.*352G>A (n.*352G>A) c.600G>A (p.Glu200=) c.603G>A (p.Glu201=) | ClinVar dbSNP gnomAD v4 |
| X | g.154534473T>A | CA415238142 | G6PD | c.509A>T (p.Glu170Val) c.512A>T (p.Glu171Val) c.372A>T c.375A>T c.389A>T (p.Glu130Val) c.*351A>T (n.*351A>T) c.599A>T (p.Glu200Val) c.602A>T (p.Glu201Val) | |
| X | g.154534473T>C | CA415238144 | G6PD | c.509A>G (p.Glu170Gly) c.512A>G (p.Glu171Gly) c.372A>G c.375A>G c.389A>G (p.Glu130Gly) c.*351A>G (n.*351A>G) c.599A>G (p.Glu200Gly) c.602A>G (p.Glu201Gly) | |
| X | g.154534473T>G | CA415238146 | G6PD | c.509A>C (p.Glu170Ala) c.512A>C (p.Glu171Ala) c.372A>C c.375A>C c.389A>C (p.Glu130Ala) c.*351A>C (n.*351A>C) c.599A>C (p.Glu200Ala) c.602A>C (p.Glu201Ala) | |
| X | g.154534474C>A | CA415238148 | G6PD | c.508G>T (p.Glu170Ter) c.511G>T (p.Glu171Ter) c.371G>T c.374G>T c.388G>T (p.Glu130Ter) c.*350G>T (n.*350G>T) c.598G>T (p.Glu200Ter) c.601G>T (p.Glu201Ter) | |
| X | g.154534474C>G | CA415238150 | G6PD | c.508G>C (p.Glu170Gln) c.511G>C (p.Glu171Gln) c.371G>C c.374G>C c.388G>C (p.Glu130Gln) c.*350G>C (n.*350G>C) c.598G>C (p.Glu200Gln) c.601G>C (p.Glu201Gln) | |
| X | g.154534474C>T | CA415238151 | G6PD | c.508G>A (p.Glu170Lys) c.511G>A (p.Glu171Lys) c.371G>A c.374G>A c.388G>A (p.Glu130Lys) c.*350G>A (n.*350G>A) c.598G>A (p.Glu200Lys) c.601G>A (p.Glu201Lys) | |
| X | g.154534475C>A | CA519305944 | G6PD | c.507G>T (p.Val169=) c.510G>T (p.Val170=) c.370G>T c.373G>T c.387G>T (p.Val129=) c.*349G>T (n.*349G>T) c.597G>T (p.Val199=) c.600G>T (p.Val200=) | |
| X | g.154534475C>G | CA519305945 | G6PD | c.507G>C (p.Val169=) c.510G>C (p.Val170=) c.370G>C c.373G>C c.387G>C (p.Val129=) c.*349G>C (n.*349G>C) c.597G>C (p.Val199=) c.600G>C (p.Val200=) | |
| X | g.154534475C>T | CA519305947 | G6PD | c.507G>A (p.Val169=) c.510G>A (p.Val170=) c.370G>A c.373G>A c.387G>A (p.Val129=) c.*349G>A (n.*349G>A) c.597G>A (p.Val199=) c.600G>A (p.Val200=) | |
| X | g.154534476A>C | CA415238155 | G6PD | c.506T>G (p.Val169Gly) c.509T>G (p.Val170Gly) c.369T>G c.372T>G c.386T>G (p.Val129Gly) c.*348T>G (n.*348T>G) c.596T>G (p.Val199Gly) c.599T>G (p.Val200Gly) | |
| X | g.154534476A>G | CA415238153 | G6PD | c.506T>C (p.Val169Ala) c.509T>C (p.Val170Ala) c.369T>C c.372T>C c.386T>C (p.Val129Ala) c.*348T>C (n.*348T>C) c.596T>C (p.Val199Ala) c.599T>C (p.Val200Ala) | |
| X | g.154534476A>T | CA415238152 | G6PD | c.506T>A (p.Val169Glu) c.509T>A (p.Val170Glu) c.369T>A c.372T>A c.386T>A (p.Val129Glu) c.*348T>A (n.*348T>A) c.596T>A (p.Val199Glu) c.599T>A (p.Val200Glu) | |
| X | g.154534477C>A | CA415238156 | G6PD | c.505G>T (p.Val169Leu) c.508G>T (p.Val170Leu) c.368G>T c.371G>T c.385G>T (p.Val129Leu) c.*347G>T (n.*347G>T) c.595G>T (p.Val199Leu) c.598G>T (p.Val200Leu) | |
| X | g.154534477C= | CA2466724198 | G6PD | c.505G= (p.Val169=) c.508G= (p.Val170=) c.368G= c.371G= c.385G= (p.Val129=) c.*347G= (n.*347G=) c.595G= (p.Val199=) c.598G= (p.Val200=) | |
| X | g.154534477C>G | CA415238158 | G6PD | c.505G>C (p.Val169Leu) c.508G>C (p.Val170Leu) c.368G>C c.371G>C c.385G>C (p.Val129Leu) c.*347G>C (n.*347G>C) c.595G>C (p.Val199Leu) c.598G>C (p.Val200Leu) | |
| X | g.154534477C>T | CA10566224 | G6PD | c.505G>A (p.Val169Met) c.508G>A (p.Val170Met) c.368G>A c.371G>A c.385G>A (p.Val129Met) c.*347G>A (n.*347G>A) c.595G>A (p.Val199Met) c.598G>A (p.Val200Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154534478G>A | CA10566225 | G6PD | c.504C>T (p.Ile168=) c.507C>T (p.Ile169=) c.367C>T c.370C>T c.384C>T (p.Ile128=) c.*346C>T (n.*346C>T) c.594C>T (p.Ile198=) c.597C>T (p.Ile199=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154534478G>C | CA415238159 | G6PD | c.504C>G (p.Ile168Met) c.507C>G (p.Ile169Met) c.367C>G c.370C>G c.384C>G (p.Ile128Met) c.*346C>G (n.*346C>G) c.594C>G (p.Ile198Met) c.597C>G (p.Ile199Met) | gnomAD v4 |
| X | g.154534478G= | CA2466724199 | G6PD | c.504C= (p.Ile168=) c.507C= (p.Ile169=) c.367C= c.370C= c.384C= (p.Ile128=) c.*346C= (n.*346C=) c.594C= (p.Ile198=) c.597C= (p.Ile199=) | |
| X | g.154534478G>T | CA519305955 | G6PD | c.504C>A (p.Ile168=) c.507C>A (p.Ile169=) c.367C>A c.370C>A c.384C>A (p.Ile128=) c.*346C>A (n.*346C>A) c.594C>A (p.Ile198=) c.597C>A (p.Ile199=) | COSMIC COSMIC COSMIC |
| X | g.154534479A>C | CA415238161 | G6PD | c.503T>G (p.Ile168Ser) c.506T>G (p.Ile169Ser) c.366T>G c.369T>G c.383T>G (p.Ile128Ser) c.*345T>G (n.*345T>G) c.593T>G (p.Ile198Ser) c.596T>G (p.Ile199Ser) | |
| X | g.154534479A>G | CA415238163 | G6PD | c.503T>C (p.Ile168Thr) c.506T>C (p.Ile169Thr) c.366T>C c.369T>C c.383T>C (p.Ile128Thr) c.*345T>C (n.*345T>C) c.593T>C (p.Ile198Thr) c.596T>C (p.Ile199Thr) | |
| X | g.154534479A>T | CA415238165 | G6PD | c.503T>A (p.Ile168Asn) c.506T>A (p.Ile169Asn) c.366T>A c.369T>A c.383T>A (p.Ile128Asn) c.*345T>A (n.*345T>A) c.593T>A (p.Ile198Asn) c.596T>A (p.Ile199Asn) | |
| X | g.154534480T>A | CA415238166 | G6PD | c.502A>T (p.Ile168Phe) c.505A>T (p.Ile169Phe) c.365A>T c.368A>T c.382A>T (p.Ile128Phe) c.*344A>T (n.*344A>T) c.592A>T (p.Ile198Phe) c.595A>T (p.Ile199Phe) | |
| X | g.154534480T>C | CA415238167 | G6PD | c.502A>G (p.Ile168Val) c.505A>G (p.Ile169Val) c.365A>G c.368A>G c.382A>G (p.Ile128Val) c.*344A>G (n.*344A>G) c.592A>G (p.Ile198Val) c.595A>G (p.Ile199Val) | |
| X | g.154534480T>G | CA415238168 | G6PD | c.502A>C (p.Ile168Leu) c.505A>C (p.Ile169Leu) c.365A>C c.368A>C c.382A>C (p.Ile128Leu) c.*344A>C (n.*344A>C) c.592A>C (p.Ile198Leu) c.595A>C (p.Ile199Leu) | |
| X | g.154534481G>A | CA519305962 | G6PD | c.501C>T (p.Ile167=) c.504C>T (p.Ile168=) c.364C>T c.367C>T c.381C>T (p.Ile127=) c.*343C>T (n.*343C>T) c.591C>T (p.Ile197=) c.594C>T (p.Ile198=) | ClinVar |
| X | g.154534481G>C | CA415238170 | G6PD | c.501C>G (p.Ile167Met) c.504C>G (p.Ile168Met) c.364C>G c.367C>G c.381C>G (p.Ile127Met) c.*343C>G (n.*343C>G) c.591C>G (p.Ile197Met) c.594C>G (p.Ile198Met) | |
| X | g.154534481G= | CA2466724200 | G6PD | c.501C= (p.Ile167=) c.504C= (p.Ile168=) c.364C= c.367C= c.381C= (p.Ile127=) c.*343C= (n.*343C=) c.591C= (p.Ile197=) c.594C= (p.Ile198=) | |
| X | g.154534481G>T | CA519305964 | G6PD | c.501C>A (p.Ile167=) c.504C>A (p.Ile168=) c.364C>A c.367C>A c.381C>A (p.Ile127=) c.*343C>A (n.*343C>A) c.591C>A (p.Ile197=) c.594C>A (p.Ile198=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154534482A>C | CA415238171 | G6PD | c.500T>G (p.Ile167Ser) c.503T>G (p.Ile168Ser) c.363T>G c.366T>G c.380T>G (p.Ile127Ser) c.*342T>G (n.*342T>G) c.590T>G (p.Ile197Ser) c.593T>G (p.Ile198Ser) | |
| X | g.154534482A>G | CA415238175 | G6PD | c.500T>C (p.Ile167Thr) c.503T>C (p.Ile168Thr) c.363T>C c.366T>C c.380T>C (p.Ile127Thr) c.*342T>C (n.*342T>C) c.590T>C (p.Ile197Thr) c.593T>C (p.Ile198Thr) | COSMIC COSMIC COSMIC |
| X | g.154534482A>T | CA415238173 | G6PD | c.500T>A (p.Ile167Asn) c.503T>A (p.Ile168Asn) c.363T>A c.366T>A c.380T>A (p.Ile127Asn) c.*342T>A (n.*342T>A) c.590T>A (p.Ile197Asn) c.593T>A (p.Ile198Asn) | |
| X | g.154534483T>A | CA415238177 | G6PD | c.499A>T (p.Ile167Phe) c.502A>T (p.Ile168Phe) c.362A>T c.365A>T c.379A>T (p.Ile127Phe) c.*341A>T (n.*341A>T) c.589A>T (p.Ile197Phe) c.592A>T (p.Ile198Phe) | ClinVar |
| X | g.154534483T>C | CA415238178 | G6PD | c.499A>G (p.Ile167Val) c.502A>G (p.Ile168Val) c.362A>G c.365A>G c.379A>G (p.Ile127Val) c.*341A>G (n.*341A>G) c.589A>G (p.Ile197Val) c.592A>G (p.Ile198Val) | |
| X | g.154534483T>G | CA415238179 | G6PD | c.499A>C (p.Ile167Leu) c.502A>C (p.Ile168Leu) c.362A>C c.365A>C c.379A>C (p.Ile127Leu) c.*341A>C (n.*341A>C) c.589A>C (p.Ile197Leu) c.592A>C (p.Ile198Leu) | |
| X | g.154534484G>A | CA519305974 | G6PD | c.498C>T (p.Arg166=) c.501C>T (p.Arg167=) c.361C>T c.364C>T c.378C>T (p.Arg126=) c.*340C>T (n.*340C>T) c.588C>T (p.Arg196=) c.591C>T (p.Arg197=) | |
| X | g.154534484G>C | CA519305971 | G6PD | c.498C>G (p.Arg166=) c.501C>G (p.Arg167=) c.361C>G c.364C>G c.378C>G (p.Arg126=) c.*340C>G (n.*340C>G) c.588C>G (p.Arg196=) c.591C>G (p.Arg197=) | |
| X | g.154534484G>T | CA519305972 | G6PD | c.498C>A (p.Arg166=) c.501C>A (p.Arg167=) c.361C>A c.364C>A c.378C>A (p.Arg126=) c.*340C>A (n.*340C>A) c.588C>A (p.Arg196=) c.591C>A (p.Arg197=) | |
| X | g.154534485C>A | CA415238181 | G6PD | c.497G>T (p.Arg166Leu) c.500G>T (p.Arg167Leu) c.360G>T c.363G>T c.377G>T (p.Arg126Leu) c.*339G>T (n.*339G>T) c.587G>T (p.Arg196Leu) c.590G>T (p.Arg197Leu) | |
| X | g.154534485C= | CA2740130062 | G6PD | c.497G= (p.Arg166=) c.500G= (p.Arg167=) c.360G= c.363G= c.377G= (p.Arg126=) c.*339G= (n.*339G=) c.587G= (p.Arg196=) c.590G= (p.Arg197=) | |
| X | g.154534485C>G | CA415238183 | G6PD | c.497G>C (p.Arg166Pro) c.500G>C (p.Arg167Pro) c.360G>C c.363G>C c.377G>C (p.Arg126Pro) c.*339G>C (n.*339G>C) c.587G>C (p.Arg196Pro) c.590G>C (p.Arg197Pro) | |
| X | g.154534485C>T | CA415238184 | G6PD | c.497G>A (p.Arg166His) c.500G>A (p.Arg167His) c.360G>A c.363G>A c.377G>A (p.Arg126His) c.*339G>A (n.*339G>A) c.587G>A (p.Arg196His) c.590G>A (p.Arg197His) | ClinVar gnomAD v4 |
| X | g.154534486G>A | CA415238186 | G6PD | c.496C>T (p.Arg166Cys) c.499C>T (p.Arg167Cys) c.359C>T c.362C>T c.376C>T (p.Arg126Cys) c.*338C>T (n.*338C>T) c.586C>T (p.Arg196Cys) c.589C>T (p.Arg197Cys) | ClinVar gnomAD v4 |
| X | g.154534486G>C | CA415238187 | G6PD | c.496C>G (p.Arg166Gly) c.499C>G (p.Arg167Gly) c.359C>G c.362C>G c.376C>G (p.Arg126Gly) c.*338C>G (n.*338C>G) c.586C>G (p.Arg196Gly) c.589C>G (p.Arg197Gly) | |
| X | g.154534486G= | CA2740130063 | G6PD | c.496C= (p.Arg166=) c.499C= (p.Arg167=) c.359C= c.362C= c.376C= (p.Arg126=) c.*338C= (n.*338C=) c.586C= (p.Arg196=) c.589C= (p.Arg197=) | |
| X | g.154534486G>T | CA415238188 | G6PD | c.496C>A (p.Arg166Ser) c.499C>A (p.Arg167Ser) c.359C>A c.362C>A c.376C>A (p.Arg126Ser) c.*338C>A (n.*338C>A) c.586C>A (p.Arg196Ser) c.589C>A (p.Arg197Ser) | |
| X | g.154534487G>A | CA519305981 | G6PD | c.495C>T (p.Asn165=) c.498C>T (p.Asn166=) c.358C>T c.361C>T c.375C>T (p.Asn125=) c.*337C>T (n.*337C>T) c.585C>T (p.Asn195=) c.588C>T (p.Asn196=) | |
| X | g.154534487G>C | CA415238190 | G6PD | c.495C>G (p.Asn165Lys) c.498C>G (p.Asn166Lys) c.358C>G c.361C>G c.375C>G (p.Asn125Lys) c.*337C>G (n.*337C>G) c.585C>G (p.Asn195Lys) c.588C>G (p.Asn196Lys) | |
| X | g.154534487G>T | CA415238192 | G6PD | c.495C>A (p.Asn165Lys) c.498C>A (p.Asn166Lys) c.358C>A c.361C>A c.375C>A (p.Asn125Lys) c.*337C>A (n.*337C>A) c.585C>A (p.Asn195Lys) c.588C>A (p.Asn196Lys) | gnomAD v4 |
| X | g.154534488T>A | CA415238193 | G6PD | c.494A>T (p.Asn165Ile) c.497A>T (p.Asn166Ile) c.357A>T c.360A>T c.374A>T (p.Asn125Ile) c.*336A>T (n.*336A>T) c.584A>T (p.Asn195Ile) c.587A>T (p.Asn196Ile) | |
| X | g.154534488T>C | CA415238196 | G6PD | c.494A>G (p.Asn165Ser) c.497A>G (p.Asn166Ser) c.357A>G c.360A>G c.374A>G (p.Asn125Ser) c.*336A>G (n.*336A>G) c.584A>G (p.Asn195Ser) c.587A>G (p.Asn196Ser) | |
| X | g.154534488T>G | CA415238195 | G6PD | c.494A>C (p.Asn165Thr) c.497A>C (p.Asn166Thr) c.357A>C c.360A>C c.374A>C (p.Asn125Thr) c.*336A>C (n.*336A>C) c.584A>C (p.Asn195Thr) c.587A>C (p.Asn196Thr) | |
| X | g.154534489T>A | CA415238198 | G6PD | c.493A>T (p.Asn165Tyr) c.496A>T (p.Asn166Tyr) c.356A>T c.359A>T c.373A>T (p.Asn125Tyr) c.*335A>T (n.*335A>T) c.583A>T (p.Asn195Tyr) c.586A>T (p.Asn196Tyr) | |
| X | g.154534489T>C | CA121000 | G6PD | c.493A>G (p.Asn165Asp) c.496A>G (p.Asn166Asp) c.356A>G c.359A>G c.373A>G (p.Asn125Asp) c.*335A>G (n.*335A>G) c.583A>G (p.Asn195Asp) c.586A>G (p.Asn196Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154534489T>G | CA415238200 | G6PD | c.493A>C (p.Asn165His) c.496A>C (p.Asn166His) c.356A>C c.359A>C c.373A>C (p.Asn125His) c.*335A>C (n.*335A>C) c.583A>C (p.Asn195His) c.586A>C (p.Asn196His) | |
| X | g.154534489T= | CA2466724201 | G6PD | c.493A= (p.Asn165=) c.496A= (p.Asn166=) c.356A= c.359A= c.373A= (p.Asn125=) c.*335A= (n.*335A=) c.583A= (p.Asn195=) c.586A= (p.Asn196=) | |
| X | g.154534490C>A | CA415238202 | G6PD | c.492G>T (p.Trp164Cys) c.495G>T (p.Trp165Cys) c.355G>T c.358G>T c.372G>T (p.Trp124Cys) c.*334G>T (n.*334G>T) c.582G>T (p.Trp194Cys) c.585G>T (p.Trp195Cys) | |
| X | g.154534490C>G | CA415238203 | G6PD | c.492G>C (p.Trp164Cys) c.495G>C (p.Trp165Cys) c.355G>C c.358G>C c.372G>C (p.Trp124Cys) c.*334G>C (n.*334G>C) c.582G>C (p.Trp194Cys) c.585G>C (p.Trp195Cys) | |
| X | g.154534490C>T | CA415238204 | G6PD | c.492G>A (p.Trp164Ter) c.495G>A (p.Trp165Ter) c.355G>A c.358G>A c.372G>A (p.Trp124Ter) c.*334G>A (n.*334G>A) c.582G>A (p.Trp194Ter) c.585G>A (p.Trp195Ter) | |
| X | g.154534491C>A | CA415238206 | G6PD | c.491G>T (p.Trp164Leu) c.494G>T (p.Trp165Leu) c.354G>T c.357G>T c.371G>T (p.Trp124Leu) c.*333G>T (n.*333G>T) c.581G>T (p.Trp194Leu) c.584G>T (p.Trp195Leu) | |
| X | g.154534491C= | CA2466724202 | G6PD | c.491G= (p.Trp164=) c.494G= (p.Trp165=) c.354G= c.357G= c.371G= (p.Trp124=) c.*333G= (n.*333G=) c.581G= (p.Trp194=) c.584G= (p.Trp195=) | |
| X | g.154534491C>G | CA415238208 | G6PD | c.491G>C (p.Trp164Ser) c.494G>C (p.Trp165Ser) c.354G>C c.357G>C c.371G>C (p.Trp124Ser) c.*333G>C (n.*333G>C) c.581G>C (p.Trp194Ser) c.584G>C (p.Trp195Ser) | |
| X | g.154534491C>T | CA415238210 | G6PD | c.491G>A (p.Trp164Ter) c.494G>A (p.Trp165Ter) c.354G>A c.357G>A c.371G>A (p.Trp124Ter) c.*333G>A (n.*333G>A) c.581G>A (p.Trp194Ter) c.584G>A (p.Trp195Ter) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154534492A= | CA2466724203 | G6PD | c.490T= (p.Trp164=) c.493T= (p.Trp165=) c.353T= c.356T= c.370T= (p.Trp124=) c.*332T= (n.*332T=) c.580T= (p.Trp194=) c.583T= (p.Trp195=) | |
| X | g.154534492A>C | CA415238212 | G6PD | c.490T>G (p.Trp164Gly) c.493T>G (p.Trp165Gly) c.353T>G c.356T>G c.370T>G (p.Trp124Gly) c.*332T>G (n.*332T>G) c.580T>G (p.Trp194Gly) c.583T>G (p.Trp195Gly) | |
| X | g.154534492A>G | CA415238214 | G6PD | c.490T>C (p.Trp164Arg) c.493T>C (p.Trp165Arg) c.353T>C c.356T>C c.370T>C (p.Trp124Arg) c.*332T>C (n.*332T>C) c.580T>C (p.Trp194Arg) c.583T>C (p.Trp195Arg) | ClinVar dbSNP gnomAD v4 |
| X | g.154534492A>T | CA415238211 | G6PD | c.490T>A (p.Trp164Arg) c.493T>A (p.Trp165Arg) c.353T>A c.356T>A c.370T>A (p.Trp124Arg) c.*332T>A (n.*332T>A) c.580T>A (p.Trp194Arg) c.583T>A (p.Trp195Arg) | |
| X | g.154534493G>A | CA337317718 | G6PD | c.489C>T (p.Gly163=) c.492C>T (p.Gly164=) c.352C>T c.355C>T c.369C>T (p.Gly123=) c.*331C>T (n.*331C>T) c.579C>T (p.Gly193=) c.582C>T (p.Gly194=) | dbSNP gnomAD v4 |
| X | g.154534493G>C | CA337317717 | G6PD | c.489C>G (p.Gly163=) c.492C>G (p.Gly164=) c.352C>G c.355C>G c.369C>G (p.Gly123=) c.*331C>G (n.*331C>G) c.579C>G (p.Gly193=) c.582C>G (p.Gly194=) | dbSNP |
| X | g.154534493G= | CA2466724204 | G6PD | c.489C= (p.Gly163=) c.492C= (p.Gly164=) c.352C= c.355C= c.369C= (p.Gly123=) c.*331C= (n.*331C=) c.579C= (p.Gly193=) c.582C= (p.Gly194=) | |
| X | g.154534493G>T | CA337317720 | G6PD | c.489C>A (p.Gly163=) c.492C>A (p.Gly164=) c.352C>A c.355C>A c.369C>A (p.Gly123=) c.*331C>A (n.*331C>A) c.579C>A (p.Gly193=) c.582C>A (p.Gly194=) | dbSNP |
| X | g.154534493dup | CA2559804677 | G6PD | c.489dup (p.Trp164LeufsTer18) c.492dup (p.Trp165LeufsTer18) c.352dup c.355dup c.369dup (p.Trp124LeufsTer18) c.*331dup (n.*331dup) c.579dup (p.Trp194LeufsTer18) c.582dup (p.Trp195LeufsTer18) | |
| X | g.154534494C>A | CA415238219 | G6PD | c.488G>T (p.Gly163Val) c.491G>T (p.Gly164Val) c.351G>T c.354G>T c.368G>T (p.Gly123Val) c.*330G>T (n.*330G>T) c.578G>T (p.Gly193Val) c.581G>T (p.Gly194Val) | |
| X | g.154534494C= | CA2740130064 | G6PD | c.488G= (p.Gly163=) c.491G= (p.Gly164=) c.351G= c.354G= c.368G= (p.Gly123=) c.*330G= (n.*330G=) c.578G= (p.Gly193=) c.581G= (p.Gly194=) | |
| X | g.154534494C>G | CA415238220 | G6PD | c.488G>C (p.Gly163Ala) c.491G>C (p.Gly164Ala) c.351G>C c.354G>C c.368G>C (p.Gly123Ala) c.*330G>C (n.*330G>C) c.578G>C (p.Gly193Ala) c.581G>C (p.Gly194Ala) | |
| X | g.154534494C>T | CA415238222 | G6PD | c.488G>A (p.Gly163Asp) c.491G>A (p.Gly164Asp) c.351G>A c.354G>A c.368G>A (p.Gly123Asp) c.*330G>A (n.*330G>A) c.578G>A (p.Gly193Asp) c.581G>A (p.Gly194Asp) | ClinVar |
| X | g.154534495C>A | CA415238224 | G6PD | c.487G>T (p.Gly163Cys) c.490G>T (p.Gly164Cys) c.350G>T c.353G>T c.367G>T (p.Gly123Cys) c.*329G>T (n.*329G>T) c.577G>T (p.Gly193Cys) c.580G>T (p.Gly194Cys) | |
| X | g.154534495C= | CA2466724205 | G6PD | c.487G= (p.Gly163=) c.490G= (p.Gly164=) c.350G= c.353G= c.367G= (p.Gly123=) c.*329G= (n.*329G=) c.577G= (p.Gly193=) c.580G= (p.Gly194=) | |
| X | g.154534495C>G | CA415238226 | G6PD | c.487G>C (p.Gly163Arg) c.490G>C (p.Gly164Arg) c.350G>C c.353G>C c.367G>C (p.Gly123Arg) c.*329G>C (n.*329G>C) c.577G>C (p.Gly193Arg) c.580G>C (p.Gly194Arg) | |
| X | g.154534495C>T | CA120953 | G6PD | c.487G>A (p.Gly163Ser) c.490G>A (p.Gly164Ser) c.350G>A c.353G>A c.367G>A (p.Gly123Ser) c.*329G>A (n.*329G>A) c.577G>A (p.Gly193Ser) c.580G>A (p.Gly194Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154534496T>A | CA415238227 | G6PD | c.486A>T (p.Ile162=) c.489A>T (p.Arg163Ser) c.349A>T c.352A>T c.366A>T (p.Ile122=) c.*328A>T (n.*328A>T) c.576A>T (p.Ile192=) c.579A>T (p.Arg193Ser) | |
| X | g.154534496T>C | CA415238229 | G6PD | c.486A>G (p.Ile162Met) c.489A>G (p.Arg163=) c.349A>G c.352A>G c.366A>G (p.Ile122Met) c.*328A>G (n.*328A>G) c.576A>G (p.Ile192Met) c.579A>G (p.Arg193=) | |
| X | g.154534496T>G | CA415238231 | G6PD | c.486A>C (p.Ile162=) c.489A>C (p.Arg163Ser) c.349A>C c.352A>C c.366A>C (p.Ile122=) c.*328A>C (n.*328A>C) c.576A>C (p.Ile192=) c.579A>C (p.Arg193Ser) | gnomAD v4 |
| X | g.154534497C>A | CA415238235 | G6PD | c.486-1G>T (n.486-1G>T) c.488G>T (p.Arg163Ile) c.349-1G>T c.351G>T c.366-1G>T (n.366-1G>T) c.*328-1G>T (n.*328-1G>T) c.576-1G>T (n.576-1G>T) c.578G>T (p.Arg193Ile) | |
| X | g.154534497C>G | CA415238234 | G6PD | c.486-1G>C (n.486-1G>C) c.488G>C (p.Arg163Thr) c.349-1G>C c.351G>C c.366-1G>C (n.366-1G>C) c.*328-1G>C (n.*328-1G>C) c.576-1G>C (n.576-1G>C) c.578G>C (p.Arg193Thr) | |
| X | g.154534497C>T | CA415238233 | G6PD | c.486-1G>A (n.486-1G>A) c.488G>A (p.Arg163Lys) c.349-1G>A c.351G>A c.366-1G>A (n.366-1G>A) c.*328-1G>A (n.*328-1G>A) c.576-1G>A (n.576-1G>A) c.578G>A (p.Arg193Lys) | |
| X | g.154534498T>A | CA415238237 | G6PD | c.486-2A>T (n.486-2A>T) c.487A>T (p.Arg163Ter) c.349-2A>T c.350A>T c.366-2A>T (n.366-2A>T) c.*328-2A>T (n.*328-2A>T) c.576-2A>T (n.576-2A>T) c.577A>T (p.Arg193Ter) | |
| X | g.154534498T>C | CA415238238 | G6PD | c.486-2A>G (n.486-2A>G) c.487A>G (p.Arg163Gly) c.349-2A>G c.350A>G c.366-2A>G (n.366-2A>G) c.*328-2A>G (n.*328-2A>G) c.576-2A>G (n.576-2A>G) c.577A>G (p.Arg193Gly) | |
| X | g.154534498T>G | CA415238240 | G6PD | c.486-2A>C (n.486-2A>C) c.487A>C (p.Arg163=) c.349-2A>C c.350A>C c.366-2A>C (n.366-2A>C) c.*328-2A>C (n.*328-2A>C) c.576-2A>C (n.576-2A>C) c.577A>C (p.Arg193=) | |
| X | g.154534499G>C | CA415238241 | G6PD | c.486-3C>G (n.486-3C>G) c.486C>G (p.Ile162Met) c.349-3C>G c.349C>G c.366-3C>G (n.366-3C>G) c.*328-3C>G (n.*328-3C>G) c.576-3C>G (n.576-3C>G) c.576C>G (p.Ile192Met) | |
| X | g.154534500C>A | CA415238242 | G6PD | c.486-4G>T (n.486-4G>T) c.486-1G>T (n.486-1G>T) c.349-4G>T c.349-1G>T c.366-4G>T (n.366-4G>T) c.*328-4G>T (n.*328-4G>T) c.576-4G>T (n.576-4G>T) c.576-1G>T (n.576-1G>T) | |
| X | g.154534500C>G | CA415238243 | G6PD | c.486-4G>C (n.486-4G>C) c.486-1G>C (n.486-1G>C) c.349-4G>C c.349-1G>C c.366-4G>C (n.366-4G>C) c.*328-4G>C (n.*328-4G>C) c.576-4G>C (n.576-4G>C) c.576-1G>C (n.576-1G>C) | |
| X | g.154534500C>T | CA415238245 | G6PD | c.486-4G>A (n.486-4G>A) c.486-1G>A (n.486-1G>A) c.349-4G>A c.349-1G>A c.366-4G>A (n.366-4G>A) c.*328-4G>A (n.*328-4G>A) c.576-4G>A (n.576-4G>A) c.576-1G>A (n.576-1G>A) | gnomAD v4 |
| X | g.154534500_154534501delinsCT | CA2466724206 | G6PD | c.486-5_486-4delinsAG (n.486-5_486-4delinsAG) c.486-2_486-1delinsAG (n.486-2_486-1delinsAG) c.349-5_349-4delinsAG c.349-2_349-1delinsAG c.366-5_366-4delinsAG (n.366-5_366-4delinsAG) c.*328-5_*328-4delinsAG (n.*328-5_*328-4delinsAG) c.576-5_576-4delinsAG (n.576-5_576-4delinsAG) c.576-2_576-1delinsAG (n.576-2_576-1delinsAG) | |
| X | g.154534501del | CA2466724207 | G6PD | c.486-5del (n.486-5del) c.486-2del (n.486-2del) c.349-5del c.349-2del c.366-5del (n.366-5del) c.*328-5del (n.*328-5del) c.576-5del (n.576-5del) c.576-2del (n.576-2del) | dbSNP |
| X | g.154534501T>A | CA415238247 | G6PD | c.486-5A>T (n.486-5A>T) c.486-2A>T (n.486-2A>T) c.349-5A>T c.349-2A>T c.366-5A>T (n.366-5A>T) c.*328-5A>T (n.*328-5A>T) c.576-5A>T (n.576-5A>T) c.576-2A>T (n.576-2A>T) | |
| X | g.154534501T>C | CA415238249 | G6PD | c.486-5A>G (n.486-5A>G) c.486-2A>G (n.486-2A>G) c.349-5A>G c.349-2A>G c.366-5A>G (n.366-5A>G) c.*328-5A>G (n.*328-5A>G) c.576-5A>G (n.576-5A>G) c.576-2A>G (n.576-2A>G) | |
| X | g.154534501T>G | CA415238250 | G6PD | c.486-5A>C (n.486-5A>C) c.486-2A>C (n.486-2A>C) c.349-5A>C c.349-2A>C c.366-5A>C (n.366-5A>C) c.*328-5A>C (n.*328-5A>C) c.576-5A>C (n.576-5A>C) c.576-2A>C (n.576-2A>C) | |
| X | g.154534502G>A | CA2697544880 | G6PD | c.486-6C>T (n.486-6C>T) c.486-3C>T (n.486-3C>T) c.349-6C>T c.349-3C>T c.366-6C>T (n.366-6C>T) c.*328-6C>T (n.*328-6C>T) c.576-6C>T (n.576-6C>T) c.576-3C>T (n.576-3C>T) | ClinVar |
| X | g.154534506G>A | CA2695147055 | G6PD | c.486-10C>T (n.486-10C>T) c.486-7C>T (n.486-7C>T) c.349-10C>T c.349-7C>T c.366-10C>T (n.366-10C>T) c.*328-10C>T (n.*328-10C>T) c.576-10C>T (n.576-10C>T) c.576-7C>T (n.576-7C>T) | ClinVar gnomAD v4 |
| X | g.154534507C>T | CA2695147056 | G6PD | c.486-11G>A (n.486-11G>A) c.486-8G>A (n.486-8G>A) c.349-11G>A c.349-8G>A c.366-11G>A (n.366-11G>A) c.*328-11G>A (n.*328-11G>A) c.576-11G>A (n.576-11G>A) c.576-8G>A (n.576-8G>A) | gnomAD v4 |
| X | g.154534509C>T | CA2579742095 | G6PD | c.486-13G>A (n.486-13G>A) c.486-10G>A (n.486-10G>A) c.349-13G>A c.349-10G>A c.366-13G>A (n.366-13G>A) c.*328-13G>A (n.*328-13G>A) c.576-13G>A (n.576-13G>A) c.576-10G>A (n.576-10G>A) | gnomAD v4 |
| X | g.154534510G>A | CA246611 | G6PD | c.486-14C>T (n.486-14C>T) c.486-11C>T (n.486-11C>T) c.349-14C>T c.349-11C>T c.366-14C>T (n.366-14C>T) c.*328-14C>T (n.*328-14C>T) c.576-14C>T (n.576-14C>T) c.576-11C>T (n.576-11C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154534510G= | CA2466724208 | G6PD | c.486-14C= (n.486-14C=) c.486-11C= (n.486-11C=) c.349-14C= c.349-11C= c.366-14C= (n.366-14C=) c.*328-14C= (n.*328-14C=) c.576-14C= (n.576-14C=) c.576-11C= (n.576-11C=) | |
| X | g.154534510G>T | CA2695147063 | G6PD | c.486-14C>A (n.486-14C>A) c.486-11C>A (n.486-11C>A) c.349-14C>A c.349-11C>A c.366-14C>A (n.366-14C>A) c.*328-14C>A (n.*328-14C>A) c.576-14C>A (n.576-14C>A) c.576-11C>A (n.576-11C>A) | gnomAD v4 |
| X | g.154534511G>A | CA2695147066 | G6PD | c.486-15C>T (n.486-15C>T) c.486-12C>T (n.486-12C>T) c.349-15C>T c.349-12C>T c.366-15C>T (n.366-15C>T) c.*328-15C>T (n.*328-15C>T) c.576-15C>T (n.576-15C>T) c.576-12C>T (n.576-12C>T) | gnomAD v4 |
| X | g.154534512A>G | CA2695147071 | G6PD | c.486-16T>C (n.486-16T>C) c.486-13T>C (n.486-13T>C) c.349-16T>C c.349-13T>C c.366-16T>C (n.366-16T>C) c.*328-16T>C (n.*328-16T>C) c.576-16T>C (n.576-16T>C) c.576-13T>C (n.576-13T>C) | gnomAD v4 |
| X | g.154534513del | CA2580101934 | G6PD | c.486-17del (n.486-17del) c.486-14del (n.486-14del) c.349-17del c.349-14del c.366-17del (n.366-17del) c.*328-17del (n.*328-17del) c.576-17del (n.576-17del) c.576-14del (n.576-14del) | ClinVar |
| X | g.154534513G>A | CA2466724210 | G6PD | c.486-17C>T (n.486-17C>T) c.486-14C>T (n.486-14C>T) c.349-17C>T c.349-14C>T c.366-17C>T (n.366-17C>T) c.*328-17C>T (n.*328-17C>T) c.576-17C>T (n.576-17C>T) c.576-14C>T (n.576-14C>T) | ClinVar dbSNP |
| X | g.154534513G= | CA2466724209 | G6PD | c.486-17C= (n.486-17C=) c.486-14C= (n.486-14C=) c.349-17C= c.349-14C= c.366-17C= (n.366-17C=) c.*328-17C= (n.*328-17C=) c.576-17C= (n.576-17C=) c.576-14C= (n.576-14C=) | |
| X | g.154534517C>A | CA2695147075 | G6PD | c.486-21G>T (n.486-21G>T) c.486-18G>T (n.486-18G>T) c.349-21G>T c.349-18G>T c.366-21G>T (n.366-21G>T) c.*328-21G>T (n.*328-21G>T) c.576-21G>T (n.576-21G>T) c.576-18G>T (n.576-18G>T) | gnomAD v4 |
| X | g.154534517C= | CA2466724211 | G6PD | c.486-21G= (n.486-21G=) c.486-18G= (n.486-18G=) c.349-21G= c.349-18G= c.366-21G= (n.366-21G=) c.*328-21G= (n.*328-21G=) c.576-21G= (n.576-21G=) c.576-18G= (n.576-18G=) | |
| X | g.154534517C>T | CA10566226 | G6PD | c.486-21G>A (n.486-21G>A) c.486-18G>A (n.486-18G>A) c.349-21G>A c.349-18G>A c.366-21G>A (n.366-21G>A) c.*328-21G>A (n.*328-21G>A) c.576-21G>A (n.576-21G>A) c.576-18G>A (n.576-18G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| X | g.154534518G>A | CA10566227 | G6PD | c.486-22C>T (n.486-22C>T) c.486-19C>T (n.486-19C>T) c.349-22C>T c.349-19C>T c.366-22C>T (n.366-22C>T) c.*328-22C>T (n.*328-22C>T) c.576-22C>T (n.576-22C>T) c.576-19C>T (n.576-19C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154534518G= | CA2466724212 | G6PD | c.486-22C= (n.486-22C=) c.486-19C= (n.486-19C=) c.349-22C= c.349-19C= c.366-22C= (n.366-22C=) c.*328-22C= (n.*328-22C=) c.576-22C= (n.576-22C=) c.576-19C= (n.576-19C=) | |
| X | g.154534518G>T | CA2695147079 | G6PD | c.486-22C>A (n.486-22C>A) c.486-19C>A (n.486-19C>A) c.349-22C>A c.349-19C>A c.366-22C>A (n.366-22C>A) c.*328-22C>A (n.*328-22C>A) c.576-22C>A (n.576-22C>A) c.576-19C>A (n.576-19C>A) | gnomAD v4 |
| X | g.154534520T>C | CA10566228 | G6PD | c.486-24A>G (n.486-24A>G) c.486-21A>G (n.486-21A>G) c.349-24A>G c.349-21A>G c.366-24A>G (n.366-24A>G) c.*328-24A>G (n.*328-24A>G) c.576-24A>G (n.576-24A>G) c.576-21A>G (n.576-21A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154534520T= | CA2466724213 | G6PD | c.486-24A= (n.486-24A=) c.486-21A= (n.486-21A=) c.349-24A= c.349-21A= c.366-24A= (n.366-24A=) c.*328-24A= (n.*328-24A=) c.576-24A= (n.576-24A=) c.576-21A= (n.576-21A=) | |
| X | g.154534521A= | CA2466724214 | G6PD | c.486-25T= (n.486-25T=) c.486-22T= (n.486-22T=) c.349-25T= c.349-22T= c.366-25T= (n.366-25T=) c.*328-25T= (n.*328-25T=) c.576-25T= (n.576-25T=) c.576-22T= (n.576-22T=) | |
| X | g.154534522C= | CA2466724215 | G6PD | c.486-26G= (n.486-26G=) c.486-23G= (n.486-23G=) c.349-26G= c.349-23G= c.366-26G= (n.366-26G=) c.*328-26G= (n.*328-26G=) c.576-26G= (n.576-26G=) c.576-23G= (n.576-23G=) | |
| X | g.154534522C>T | CA10566229 | G6PD | c.486-26G>A (n.486-26G>A) c.486-23G>A (n.486-23G>A) c.349-26G>A c.349-23G>A c.366-26G>A (n.366-26G>A) c.*328-26G>A (n.*328-26G>A) c.576-26G>A (n.576-26G>A) c.576-23G>A (n.576-23G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154534526dup | CA645178660 | G6PD | c.486-26dup (n.486-26dup) c.486-23dup (n.486-23dup) c.349-26dup c.349-23dup c.366-26dup (n.366-26dup) c.*328-26dup (n.*328-26dup) c.576-26dup (n.576-26dup) c.576-23dup (n.576-23dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154534523C= | CA2466724216 | G6PD | c.486-27G= (n.486-27G=) c.486-24G= (n.486-24G=) c.349-27G= c.349-24G= c.366-27G= (n.366-27G=) c.*328-27G= (n.*328-27G=) c.576-27G= (n.576-27G=) c.576-24G= (n.576-24G=) | |
| X | g.154534523C>G | CA2466724217 | G6PD | c.486-27G>C (n.486-27G>C) c.486-24G>C (n.486-24G>C) c.349-27G>C c.349-24G>C c.366-27G>C (n.366-27G>C) c.*328-27G>C (n.*328-27G>C) c.576-27G>C (n.576-27G>C) c.576-24G>C (n.576-24G>C) | dbSNP gnomAD v4 |
| X | g.154534525C>A | CA10566230 | G6PD | c.486-29G>T (n.486-29G>T) c.486-26G>T (n.486-26G>T) c.349-29G>T c.349-26G>T c.366-29G>T (n.366-29G>T) c.*328-29G>T (n.*328-29G>T) c.576-29G>T (n.576-29G>T) c.576-26G>T (n.576-26G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154534525C= | CA2466724218 | G6PD | c.486-29G= (n.486-29G=) c.486-26G= (n.486-26G=) c.349-29G= c.349-26G= c.366-29G= (n.366-29G=) c.*328-29G= (n.*328-29G=) c.576-29G= (n.576-29G=) c.576-26G= (n.576-26G=) | |
| X | g.154534525C>T | CA2695147113 | G6PD | c.486-29G>A (n.486-29G>A) c.486-26G>A (n.486-26G>A) c.349-29G>A c.349-26G>A c.366-29G>A (n.366-29G>A) c.*328-29G>A (n.*328-29G>A) c.576-29G>A (n.576-29G>A) c.576-26G>A (n.576-26G>A) | gnomAD v4 |
| X | g.154534527T>C | CA337317727 | G6PD | c.486-31A>G (n.486-31A>G) c.486-28A>G (n.486-28A>G) c.349-31A>G c.349-28A>G c.366-31A>G (n.366-31A>G) c.*328-31A>G (n.*328-31A>G) c.576-31A>G (n.576-31A>G) c.576-28A>G (n.576-28A>G) | dbSNP gnomAD v4 |
| X | g.154534527T= | CA2466724219 | G6PD | c.486-31A= (n.486-31A=) c.486-28A= (n.486-28A=) c.349-31A= c.349-28A= c.366-31A= (n.366-31A=) c.*328-31A= (n.*328-31A=) c.576-31A= (n.576-31A=) c.576-28A= (n.576-28A=) | |
| X | g.154534528T>G | CA645178661 | G6PD | c.486-32A>C (n.486-32A>C) c.486-29A>C (n.486-29A>C) c.349-32A>C c.349-29A>C c.366-32A>C (n.366-32A>C) c.*328-32A>C (n.*328-32A>C) c.576-32A>C (n.576-32A>C) c.576-29A>C (n.576-29A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154534528T= | CA2466724220 | G6PD | c.486-32A= (n.486-32A=) c.486-29A= (n.486-29A=) c.349-32A= c.349-29A= c.366-32A= (n.366-32A=) c.*328-32A= (n.*328-32A=) c.576-32A= (n.576-32A=) c.576-29A= (n.576-29A=) | |
| X | g.154534529G>A | CA2695147122 | G6PD | c.486-33C>T (n.486-33C>T) c.486-30C>T (n.486-30C>T) c.349-33C>T c.349-30C>T c.366-33C>T (n.366-33C>T) c.*328-33C>T (n.*328-33C>T) c.576-33C>T (n.576-33C>T) c.576-30C>T (n.576-30C>T) | gnomAD v4 |
| X | g.154534529G>C | CA645178662 | G6PD | c.486-33C>G (n.486-33C>G) c.486-30C>G (n.486-30C>G) c.349-33C>G c.349-30C>G c.366-33C>G (n.366-33C>G) c.*328-33C>G (n.*328-33C>G) c.576-33C>G (n.576-33C>G) c.576-30C>G (n.576-30C>G) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154534529G= | CA2466724221 | G6PD | c.486-33C= (n.486-33C=) c.486-30C= (n.486-30C=) c.349-33C= c.349-30C= c.366-33C= (n.366-33C=) c.*328-33C= (n.*328-33C=) c.576-33C= (n.576-33C=) c.576-30C= (n.576-30C=) | |
| X | g.154534529G>T | CA2695147129 | G6PD | c.486-33C>A (n.486-33C>A) c.486-30C>A (n.486-30C>A) c.349-33C>A c.349-30C>A c.366-33C>A (n.366-33C>A) c.*328-33C>A (n.*328-33C>A) c.576-33C>A (n.576-33C>A) c.576-30C>A (n.576-30C>A) | gnomAD v4 |
| X | g.154534529_154534530delinsGA | CA2466724222 | G6PD | c.486-34_486-33delinsTC (n.486-34_486-33delinsTC) c.486-31_486-30delinsTC (n.486-31_486-30delinsTC) c.349-34_349-33delinsTC c.349-31_349-30delinsTC c.366-34_366-33delinsTC (n.366-34_366-33delinsTC) c.*328-34_*328-33delinsTC (n.*328-34_*328-33delinsTC) c.576-34_576-33delinsTC (n.576-34_576-33delinsTC) c.576-31_576-30delinsTC (n.576-31_576-30delinsTC) | |
| X | g.154534530A= | CA2466724224 | G6PD | c.486-34T= (n.486-34T=) c.486-31T= (n.486-31T=) c.349-34T= c.349-31T= c.366-34T= (n.366-34T=) c.*328-34T= (n.*328-34T=) c.576-34T= (n.576-34T=) c.576-31T= (n.576-31T=) | |
| X | g.154534530A>G | CA2466724223 | G6PD | c.486-34T>C (n.486-34T>C) c.486-31T>C (n.486-31T>C) c.349-34T>C c.349-31T>C c.366-34T>C (n.366-34T>C) c.*328-34T>C (n.*328-34T>C) c.576-34T>C (n.576-34T>C) c.576-31T>C (n.576-31T>C) | dbSNP |
| X | g.154534531del | CA10566231 | G6PD | c.486-34del (n.486-34del) c.486-31del (n.486-31del) c.349-34del c.349-31del c.366-34del (n.366-34del) c.*328-34del (n.*328-34del) c.576-34del (n.576-34del) c.576-31del (n.576-31del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154534531A= | CA2466724225 | G6PD | c.486-35T= (n.486-35T=) c.486-32T= (n.486-32T=) c.349-35T= c.349-32T= c.366-35T= (n.366-35T=) c.*328-35T= (n.*328-35T=) c.576-35T= (n.576-35T=) c.576-32T= (n.576-32T=) | |
| X | g.154534531A>C | CA1138583060 | G6PD | c.486-35T>G (n.486-35T>G) c.486-32T>G (n.486-32T>G) c.349-35T>G c.349-32T>G c.366-35T>G (n.366-35T>G) c.*328-35T>G (n.*328-35T>G) c.576-35T>G (n.576-35T>G) c.576-32T>G (n.576-32T>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154534531_154534532delinsAC | CA2466724226 | G6PD | c.486-36_486-35delinsGT (n.486-36_486-35delinsGT) c.486-33_486-32delinsGT (n.486-33_486-32delinsGT) c.349-36_349-35delinsGT c.349-33_349-32delinsGT c.366-36_366-35delinsGT (n.366-36_366-35delinsGT) c.*328-36_*328-35delinsGT (n.*328-36_*328-35delinsGT) c.576-36_576-35delinsGT (n.576-36_576-35delinsGT) c.576-33_576-32delinsGT (n.576-33_576-32delinsGT) | |
| X | g.154534532C>A | CA2695147143 | G6PD | c.486-36G>T (n.486-36G>T) c.486-33G>T (n.486-33G>T) c.349-36G>T c.349-33G>T c.366-36G>T (n.366-36G>T) c.*328-36G>T (n.*328-36G>T) c.576-36G>T (n.576-36G>T) c.576-33G>T (n.576-33G>T) | gnomAD v4 |
| X | g.154534532C= | CA2466724228 | G6PD | c.486-36G= (n.486-36G=) c.486-33G= (n.486-33G=) c.349-36G= c.349-33G= c.366-36G= (n.366-36G=) c.*328-36G= (n.*328-36G=) c.576-36G= (n.576-36G=) c.576-33G= (n.576-33G=) | |
| X | g.154534532C>T | CA10566232 | G6PD | c.486-36G>A (n.486-36G>A) c.486-33G>A (n.486-33G>A) c.349-36G>A c.349-33G>A c.366-36G>A (n.366-36G>A) c.*328-36G>A (n.*328-36G>A) c.576-36G>A (n.576-36G>A) c.576-33G>A (n.576-33G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154534535del | CA2466724227 | G6PD | c.486-36del (n.486-36del) c.486-33del (n.486-33del) c.349-36del c.349-33del c.366-36del (n.366-36del) c.*328-36del (n.*328-36del) c.576-36del (n.576-36del) c.576-33del (n.576-33del) | dbSNP |
| X | g.154534535C>G | CA2824282640 | G6PD | c.486-39G>C (n.486-39G>C) c.486-36G>C (n.486-36G>C) c.349-39G>C c.349-36G>C c.366-39G>C (n.366-39G>C) c.*328-39G>C (n.*328-39G>C) c.576-39G>C (n.576-39G>C) c.576-36G>C (n.576-36G>C) | |
| X | g.154534535C>T | CA2695147145 | G6PD | c.486-39G>A (n.486-39G>A) c.486-36G>A (n.486-36G>A) c.349-39G>A c.349-36G>A c.366-39G>A (n.366-39G>A) c.*328-39G>A (n.*328-39G>A) c.576-39G>A (n.576-39G>A) c.576-36G>A (n.576-36G>A) | gnomAD v4 |
| X | g.154534536T>G | CA2695147148 | G6PD | c.486-40A>C (n.486-40A>C) c.486-37A>C (n.486-37A>C) c.349-40A>C c.349-37A>C c.366-40A>C (n.366-40A>C) c.*328-40A>C (n.*328-40A>C) c.576-40A>C (n.576-40A>C) c.576-37A>C (n.576-37A>C) | gnomAD v4 |
| X | g.154534537C>A | CA2695147149 | G6PD | c.486-41G>T (n.486-41G>T) c.486-38G>T (n.486-38G>T) c.349-41G>T c.349-38G>T c.366-41G>T (n.366-41G>T) c.*328-41G>T (n.*328-41G>T) c.576-41G>T (n.576-41G>T) c.576-38G>T (n.576-38G>T) | gnomAD v4 |