| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154533012_154533036delinsCGTGGGGTCGTCCAGGTACCCTTTG | CA2466723590 | G6PD | c.957_981delinsCAAAGGGTACCTGGACGACCCCACG (p.Thr319=) c.960_984delinsCAAAGGGTACCTGGACGACCCCACG (p.Thr320=) c.820_844delinsCAAAGGGTACCTGGACGACCCCACG c.823_847delinsCAAAGGGTACCTGGACGACCCCACG c.809_833delinsCAAAGGGTACCTGGACGACCCCACG (n.809_833delinsCAAAGGGTACCTGGACGACCCCACG) c.865-234_865-210delinsCAAAGGGTACCTGGACGACCCCACG (n.865-234_865-210delinsCAAAGGGTACCTGGACGACCCCACG) c.*417_*441delinsCAAAGGGTACCTGGACGACCCCACG (n.*417_*441delinsCAAAGGGTACCTGGACGACCCCACG) c.964_988delinsCAAAGGGTACCTGGACGACCCCACG (p.Gln322=) c.*799_*823delinsCAAAGGGTACCTGGACGACCCCACG (n.*799_*823delinsCAAAGGGTACCTGGACGACCCCACG) c.1095_1119delinsCAAAGGGTACCTGGACGACCCCACG (p.Thr365=) c.1047_1071delinsCAAAGGGTACCTGGACGACCCCACG (p.Thr349=) n.39_63delinsCAAAGGGTACCTGGACGACCCCACG c.1050_1074delinsCAAAGGGTACCTGGACGACCCCACG (p.Thr350=) c.958-234_958-210delinsCAAAGGGTACCTGGACGACCCCACG (n.958-234_958-210delinsCAAAGGGTACCTGGACGACCCCACG) | |
| X | g.154533017_154533040del | CA121042 | G6PD | c.957_980del (p.Lys320_Thr327del) c.960_983del (p.Lys321_Thr328del) c.820_843del c.823_846del c.809_832del (n.809_832del) c.865-234_865-211del (n.865-234_865-211del) c.*417_*440del (n.*417_*440del) c.964_987del (p.Gln322_His329del) c.*799_*822del (n.*799_*822del) c.1095_1118del (p.Lys366_Thr373del) c.1047_1070del (p.Lys350_Thr357del) n.39_62del c.1050_1073del (p.Lys351_Thr358del) c.958-234_958-211del (n.958-234_958-211del) | ClinVar dbSNP |
| X | g.154533022T>A | CA415234526 | G6PD | c.971A>T (p.Asp324Val) c.974A>T (p.Asp325Val) c.834A>T c.837A>T c.823A>T (n.823A>T) c.865-220A>T (n.865-220A>T) c.*431A>T (n.*431A>T) c.978A>T (p.Gly326=) c.*813A>T (n.*813A>T) c.1109A>T (p.Asp370Val) c.1061A>T (p.Asp354Val) n.53A>T c.1064A>T (p.Asp355Val) c.958-220A>T (n.958-220A>T) | |
| X | g.154533022T>C | CA415234528 | G6PD | c.971A>G (p.Asp324Gly) c.974A>G (p.Asp325Gly) c.834A>G c.837A>G c.823A>G (n.823A>G) c.865-220A>G (n.865-220A>G) c.*431A>G (n.*431A>G) c.978A>G (p.Gly326=) c.*813A>G (n.*813A>G) c.1109A>G (p.Asp370Gly) c.1061A>G (p.Asp354Gly) n.53A>G c.1064A>G (p.Asp355Gly) c.958-220A>G (n.958-220A>G) | ClinVar |
| X | g.154533022T>G | CA415234530 | G6PD | c.971A>C (p.Asp324Ala) c.974A>C (p.Asp325Ala) c.834A>C c.837A>C c.823A>C (n.823A>C) c.865-220A>C (n.865-220A>C) c.*431A>C (n.*431A>C) c.978A>C (p.Gly326=) c.*813A>C (n.*813A>C) c.1109A>C (p.Asp370Ala) c.1061A>C (p.Asp354Ala) n.53A>C c.1064A>C (p.Asp355Ala) c.958-220A>C (n.958-220A>C) | |
| X | g.154533023C>A | CA415234531 | G6PD | c.970G>T (p.Asp324Tyr) c.973G>T (p.Asp325Tyr) c.833G>T c.836G>T c.822G>T (n.822G>T) c.865-221G>T (n.865-221G>T) c.*430G>T (n.*430G>T) c.977G>T (p.Gly326Val) c.*812G>T (n.*812G>T) c.1108G>T (p.Asp370Tyr) c.1060G>T (p.Asp354Tyr) n.52G>T c.1063G>T (p.Asp355Tyr) c.958-221G>T (n.958-221G>T) | |
| X | g.154533023C>G | CA415234533 | G6PD | c.970G>C (p.Asp324His) c.973G>C (p.Asp325His) c.833G>C c.836G>C c.822G>C (n.822G>C) c.865-221G>C (n.865-221G>C) c.*430G>C (n.*430G>C) c.977G>C (p.Gly326Ala) c.*812G>C (n.*812G>C) c.1108G>C (p.Asp370His) c.1060G>C (p.Asp354His) n.52G>C c.1063G>C (p.Asp355His) c.958-221G>C (n.958-221G>C) | |
| X | g.154533023C>T | CA415234532 | G6PD | c.970G>A (p.Asp324Asn) c.973G>A (p.Asp325Asn) c.833G>A c.836G>A c.822G>A (n.822G>A) c.865-221G>A (n.865-221G>A) c.*430G>A (n.*430G>A) c.977G>A (p.Gly326Glu) c.*812G>A (n.*812G>A) c.1108G>A (p.Asp370Asn) c.1060G>A (p.Asp354Asn) n.52G>A c.1063G>A (p.Asp355Asn) c.958-221G>A (n.958-221G>A) | |
| X | g.154533024C>A | CA519303483 | G6PD | c.969G>T (p.Leu323=) c.972G>T (p.Leu324=) c.832G>T c.835G>T c.821G>T (n.821G>T) c.865-222G>T (n.865-222G>T) c.*429G>T (n.*429G>T) c.976G>T (p.Gly326Ter) c.*811G>T (n.*811G>T) c.1107G>T (p.Leu369=) c.1059G>T (p.Leu353=) n.51G>T c.1062G>T (p.Leu354=) c.958-222G>T (n.958-222G>T) | |
| X | g.154533024C>G | CA519303485 | G6PD | c.969G>C (p.Leu323=) c.972G>C (p.Leu324=) c.832G>C c.835G>C c.821G>C (n.821G>C) c.865-222G>C (n.865-222G>C) c.*429G>C (n.*429G>C) c.976G>C (p.Gly326Arg) c.*811G>C (n.*811G>C) c.1107G>C (p.Leu369=) c.1059G>C (p.Leu353=) n.51G>C c.1062G>C (p.Leu354=) c.958-222G>C (n.958-222G>C) | |
| X | g.154533024C>T | CA519303486 | G6PD | c.969G>A (p.Leu323=) c.972G>A (p.Leu324=) c.832G>A c.835G>A c.821G>A (n.821G>A) c.865-222G>A (n.865-222G>A) c.*429G>A (n.*429G>A) c.976G>A (p.Gly326Arg) c.*811G>A (n.*811G>A) c.1107G>A (p.Leu369=) c.1059G>A (p.Leu353=) n.51G>A c.1062G>A (p.Leu354=) c.958-222G>A (n.958-222G>A) | ClinVar dbSNP |
| X | g.154533025A= | CA2466723594 | G6PD | c.968T= (p.Leu323=) c.971T= (p.Leu324=) c.831T= c.834T= c.820T= (n.820T=) c.865-223T= (n.865-223T=) c.*428T= (n.*428T=) c.975T= (p.Pro325=) c.*810T= (n.*810T=) c.1106T= (p.Leu369=) c.1058T= (p.Leu353=) n.50T= c.1061T= (p.Leu354=) c.958-223T= (n.958-223T=) | |
| X | g.154533025A>C | CA415234535 | G6PD | c.968T>G (p.Leu323Arg) c.971T>G (p.Leu324Arg) c.831T>G c.834T>G c.820T>G (n.820T>G) c.865-223T>G (n.865-223T>G) c.*428T>G (n.*428T>G) c.975T>G (p.Pro325=) c.*810T>G (n.*810T>G) c.1106T>G (p.Leu369Arg) c.1058T>G (p.Leu353Arg) n.50T>G c.1061T>G (p.Leu354Arg) c.958-223T>G (n.958-223T>G) | |
| X | g.154533025A>G | CA120992 | G6PD | c.968T>C (p.Leu323Pro) c.971T>C (p.Leu324Pro) c.831T>C c.834T>C c.820T>C (n.820T>C) c.865-223T>C (n.865-223T>C) c.*428T>C (n.*428T>C) c.975T>C (p.Pro325=) c.*810T>C (n.*810T>C) c.1106T>C (p.Leu369Pro) c.1058T>C (p.Leu353Pro) n.50T>C c.1061T>C (p.Leu354Pro) c.958-223T>C (n.958-223T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.[154533025A>G;154535277T>C] | CA2499306188 | G6PD | c.[376A>G;968T>C] (p.[Asn126Asp;Leu323Pro]) c.[376A>G;971T>C] (p.[Asn126Asp;Leu324Pro]) c.[239A>G;831T>C] c.[239A>G;834T>C] c.[256A>G;820T>C] ([p.Asn86Asp;n.820T>C]) c.[376A>G;865-223T>C] (p.Asn126Asp) c.[376A>G;*428T>C] ([p.Asn126Asp;n.*428T>C]) c.[376A>G;975T>C] (p.[Asn126Asp;Pro325=]) c.[*218A>G;*810T>C] (n.[*218A>G;*810T>C]) c.[376A>G;1106T>C] (p.[Asn126Asp;Leu369Pro]) c.[466A>G;1058T>C] (p.[Asn156Asp;Leu353Pro]) c.[466A>G;1061T>C] (p.[Asn156Asp;Leu354Pro]) c.[466A>G;958-223T>C] (p.Asn156Asp) | ClinVar |
| X | g.154533025A>T | CA415234537 | G6PD | c.968T>A (p.Leu323Gln) c.971T>A (p.Leu324Gln) c.831T>A c.834T>A c.820T>A (n.820T>A) c.865-223T>A (n.865-223T>A) c.*428T>A (n.*428T>A) c.975T>A (p.Pro325=) c.*810T>A (n.*810T>A) c.1106T>A (p.Leu369Gln) c.1058T>A (p.Leu353Gln) n.50T>A c.1061T>A (p.Leu354Gln) c.958-223T>A (n.958-223T>A) | gnomAD v4 |
| X | g.154533026G>A | CA519303491 | G6PD | c.967C>T (p.Leu323=) c.970C>T (p.Leu324=) c.830C>T c.833C>T c.819C>T (n.819C>T) c.865-224C>T (n.865-224C>T) c.*427C>T (n.*427C>T) c.974C>T (p.Pro325Leu) c.*809C>T (n.*809C>T) c.1105C>T (p.Leu369=) c.1057C>T (p.Leu353=) n.49C>T c.1060C>T (p.Leu354=) c.958-224C>T (n.958-224C>T) | |
| X | g.154533026G>C | CA415234538 | G6PD | c.967C>G (p.Leu323Val) c.970C>G (p.Leu324Val) c.830C>G c.833C>G c.819C>G (n.819C>G) c.865-224C>G (n.865-224C>G) c.*427C>G (n.*427C>G) c.974C>G (p.Pro325Arg) c.*809C>G (n.*809C>G) c.1105C>G (p.Leu369Val) c.1057C>G (p.Leu353Val) n.49C>G c.1060C>G (p.Leu354Val) c.958-224C>G (n.958-224C>G) | gnomAD v4 |
| X | g.154533026G>T | CA415234539 | G6PD | c.967C>A (p.Leu323Met) c.970C>A (p.Leu324Met) c.830C>A c.833C>A c.819C>A (n.819C>A) c.865-224C>A (n.865-224C>A) c.*427C>A (n.*427C>A) c.974C>A (p.Pro325His) c.*809C>A (n.*809C>A) c.1105C>A (p.Leu369Met) c.1057C>A (p.Leu353Met) n.49C>A c.1060C>A (p.Leu354Met) c.958-224C>A (n.958-224C>A) | |
| X | g.154533027G>A | CA519303495 | G6PD | c.966C>T (p.Tyr322=) c.969C>T (p.Tyr323=) c.829C>T c.832C>T c.818C>T (n.818C>T) c.865-225C>T (n.865-225C>T) c.*426C>T (n.*426C>T) c.973C>T (p.Pro325Ser) c.*808C>T (n.*808C>T) c.1104C>T (p.Tyr368=) c.1056C>T (p.Tyr352=) n.48C>T c.1059C>T (p.Tyr353=) c.958-225C>T (n.958-225C>T) | |
| X | g.154533027G>C | CA415234542 | G6PD | c.966C>G (p.Tyr322Ter) c.969C>G (p.Tyr323Ter) c.829C>G c.832C>G c.818C>G (n.818C>G) c.865-225C>G (n.865-225C>G) c.*426C>G (n.*426C>G) c.973C>G (p.Pro325Ala) c.*808C>G (n.*808C>G) c.1104C>G (p.Tyr368Ter) c.1056C>G (p.Tyr352Ter) n.48C>G c.1059C>G (p.Tyr353Ter) c.958-225C>G (n.958-225C>G) | |
| X | g.154533027G>T | CA415234543 | G6PD | c.966C>A (p.Tyr322Ter) c.969C>A (p.Tyr323Ter) c.829C>A c.832C>A c.818C>A (n.818C>A) c.865-225C>A (n.865-225C>A) c.*426C>A (n.*426C>A) c.973C>A (p.Pro325Thr) c.*808C>A (n.*808C>A) c.1104C>A (p.Tyr368Ter) c.1056C>A (p.Tyr352Ter) n.48C>A c.1059C>A (p.Tyr353Ter) c.958-225C>A (n.958-225C>A) | |
| X | g.154533028T>A | CA415234545 | G6PD | c.965A>T (p.Tyr322Phe) c.968A>T (p.Tyr323Phe) c.828A>T c.831A>T c.817A>T (n.817A>T) c.865-226A>T (n.865-226A>T) c.*425A>T (n.*425A>T) c.972A>T (p.Val324=) c.*807A>T (n.*807A>T) c.1103A>T (p.Tyr368Phe) c.1055A>T (p.Tyr352Phe) n.47A>T c.1058A>T (p.Tyr353Phe) c.958-226A>T (n.958-226A>T) | |
| X | g.154533028T>C | CA415234548 | G6PD | c.965A>G (p.Tyr322Cys) c.968A>G (p.Tyr323Cys) c.828A>G c.831A>G c.817A>G (n.817A>G) c.865-226A>G (n.865-226A>G) c.*425A>G (n.*425A>G) c.972A>G (p.Val324=) c.*807A>G (n.*807A>G) c.1103A>G (p.Tyr368Cys) c.1055A>G (p.Tyr352Cys) n.47A>G c.1058A>G (p.Tyr353Cys) c.958-226A>G (n.958-226A>G) | |
| X | g.154533028T>G | CA415234549 | G6PD | c.965A>C (p.Tyr322Ser) c.968A>C (p.Tyr323Ser) c.828A>C c.831A>C c.817A>C (n.817A>C) c.865-226A>C (n.865-226A>C) c.*425A>C (n.*425A>C) c.972A>C (p.Val324=) c.*807A>C (n.*807A>C) c.1103A>C (p.Tyr368Ser) c.1055A>C (p.Tyr352Ser) n.47A>C c.1058A>C (p.Tyr353Ser) c.958-226A>C (n.958-226A>C) | |
| X | g.154533029A= | CA2466723595 | G6PD | c.964T= (p.Tyr322=) c.967T= (p.Tyr323=) c.827T= c.830T= c.816T= (n.816T=) c.865-227T= (n.865-227T=) c.*424T= (n.*424T=) c.971T= (p.Val324=) c.*806T= (n.*806T=) c.1102T= (p.Tyr368=) c.1054T= (p.Tyr352=) n.46T= c.1057T= (p.Tyr353=) c.958-227T= (n.958-227T=) | |
| X | g.154533029A>C | CA415234555 | G6PD | c.964T>G (p.Tyr322Asp) c.967T>G (p.Tyr323Asp) c.827T>G c.830T>G c.816T>G (n.816T>G) c.865-227T>G (n.865-227T>G) c.*424T>G (n.*424T>G) c.971T>G (p.Val324Gly) c.*806T>G (n.*806T>G) c.1102T>G (p.Tyr368Asp) c.1054T>G (p.Tyr352Asp) n.46T>G c.1057T>G (p.Tyr353Asp) c.958-227T>G (n.958-227T>G) | |
| X | g.154533029A>G | CA121049 | G6PD | c.964T>C (p.Tyr322His) c.967T>C (p.Tyr323His) c.827T>C c.830T>C c.816T>C (n.816T>C) c.865-227T>C (n.865-227T>C) c.*424T>C (n.*424T>C) c.971T>C (p.Val324Ala) c.*806T>C (n.*806T>C) c.1102T>C (p.Tyr368His) c.1054T>C (p.Tyr352His) n.46T>C c.1057T>C (p.Tyr353His) c.958-227T>C (n.958-227T>C) | ClinVar dbSNP |
| X | g.154533029A>T | CA415234552 | G6PD | c.964T>A (p.Tyr322Asn) c.967T>A (p.Tyr323Asn) c.827T>A c.830T>A c.816T>A (n.816T>A) c.865-227T>A (n.865-227T>A) c.*424T>A (n.*424T>A) c.971T>A (p.Val324Glu) c.*806T>A (n.*806T>A) c.1102T>A (p.Tyr368Asn) c.1054T>A (p.Tyr352Asn) n.46T>A c.1057T>A (p.Tyr353Asn) c.958-227T>A (n.958-227T>A) | |
| X | g.154533030C>A | CA519303505 | G6PD | c.963G>T (p.Gly321=) c.966G>T (p.Gly322=) c.826G>T c.829G>T c.815G>T (n.815G>T) c.865-228G>T (n.865-228G>T) c.*423G>T (n.*423G>T) c.970G>T (p.Val324Leu) c.*805G>T (n.*805G>T) c.1101G>T (p.Gly367=) c.1053G>T (p.Gly351=) n.45G>T c.1056G>T (p.Gly352=) c.958-228G>T (n.958-228G>T) | |
| X | g.154533030C>G | CA519303506 | G6PD | c.963G>C (p.Gly321=) c.966G>C (p.Gly322=) c.826G>C c.829G>C c.815G>C (n.815G>C) c.865-228G>C (n.865-228G>C) c.*423G>C (n.*423G>C) c.970G>C (p.Val324Leu) c.*805G>C (n.*805G>C) c.1101G>C (p.Gly367=) c.1053G>C (p.Gly351=) n.45G>C c.1056G>C (p.Gly352=) c.958-228G>C (n.958-228G>C) | |
| X | g.154533030C>T | CA519303507 | G6PD | c.963G>A (p.Gly321=) c.966G>A (p.Gly322=) c.826G>A c.829G>A c.815G>A (n.815G>A) c.865-228G>A (n.865-228G>A) c.*423G>A (n.*423G>A) c.970G>A (p.Val324Ile) c.*805G>A (n.*805G>A) c.1101G>A (p.Gly367=) c.1053G>A (p.Gly351=) n.45G>A c.1056G>A (p.Gly352=) c.958-228G>A (n.958-228G>A) | |
| X | g.154533031C>A | CA415234557 | G6PD | c.962G>T (p.Gly321Val) c.965G>T (p.Gly322Val) c.825G>T c.828G>T c.814G>T (n.814G>T) c.865-229G>T (n.865-229G>T) c.*422G>T (n.*422G>T) c.969G>T (p.Arg323Ser) c.*804G>T (n.*804G>T) c.1100G>T (p.Gly367Val) c.1052G>T (p.Gly351Val) n.44G>T c.1055G>T (p.Gly352Val) c.958-229G>T (n.958-229G>T) | |
| X | g.154533031C= | CA2740130044 | G6PD | c.962G= (p.Gly321=) c.965G= (p.Gly322=) c.825G= c.828G= c.814G= (n.814G=) c.865-229G= (n.865-229G=) c.*422G= (n.*422G=) c.969G= (p.Arg323=) c.*804G= (n.*804G=) c.1100G= (p.Gly367=) c.1052G= (p.Gly351=) n.44G= c.1055G= (p.Gly352=) c.958-229G= (n.958-229G=) | |
| X | g.154533031C>G | CA415234559 | G6PD | c.962G>C (p.Gly321Ala) c.965G>C (p.Gly322Ala) c.825G>C c.828G>C c.814G>C (n.814G>C) c.865-229G>C (n.865-229G>C) c.*422G>C (n.*422G>C) c.969G>C (p.Arg323Ser) c.*804G>C (n.*804G>C) c.1100G>C (p.Gly367Ala) c.1052G>C (p.Gly351Ala) n.44G>C c.1055G>C (p.Gly352Ala) c.958-229G>C (n.958-229G>C) | gnomAD v4 |
| X | g.154533031C>T | CA415234561 | G6PD | c.962G>A (p.Gly321Glu) c.965G>A (p.Gly322Glu) c.825G>A c.828G>A c.814G>A (n.814G>A) c.865-229G>A (n.865-229G>A) c.*422G>A (n.*422G>A) c.969G>A (p.Arg323=) c.*804G>A (n.*804G>A) c.1100G>A (p.Gly367Glu) c.1052G>A (p.Gly351Glu) n.44G>A c.1055G>A (p.Gly352Glu) c.958-229G>A (n.958-229G>A) | ClinVar |
| X | g.154533032C>A | CA415234563 | G6PD | c.961G>T (p.Gly321Trp) c.964G>T (p.Gly322Trp) c.824G>T c.827G>T c.813G>T (n.813G>T) c.865-230G>T (n.865-230G>T) c.*421G>T (n.*421G>T) c.968G>T (p.Arg323Met) c.*803G>T (n.*803G>T) c.1099G>T (p.Gly367Trp) c.1051G>T (p.Gly351Trp) n.43G>T c.1054G>T (p.Gly352Trp) c.958-230G>T (n.958-230G>T) | |
| X | g.154533032C>G | CA415234565 | G6PD | c.961G>C (p.Gly321Arg) c.964G>C (p.Gly322Arg) c.824G>C c.827G>C c.813G>C (n.813G>C) c.865-230G>C (n.865-230G>C) c.*421G>C (n.*421G>C) c.968G>C (p.Arg323Thr) c.*803G>C (n.*803G>C) c.1099G>C (p.Gly367Arg) c.1051G>C (p.Gly351Arg) n.43G>C c.1054G>C (p.Gly352Arg) c.958-230G>C (n.958-230G>C) | |
| X | g.154533032C>T | CA415234567 | G6PD | c.961G>A (p.Gly321Arg) c.964G>A (p.Gly322Arg) c.824G>A c.827G>A c.813G>A (n.813G>A) c.865-230G>A (n.865-230G>A) c.*421G>A (n.*421G>A) c.968G>A (p.Arg323Lys) c.*803G>A (n.*803G>A) c.1099G>A (p.Gly367Arg) c.1051G>A (p.Gly351Arg) n.43G>A c.1054G>A (p.Gly352Arg) c.958-230G>A (n.958-230G>A) | |
| X | g.154533033T>A | CA415234569 | G6PD | c.960A>T (p.Lys320Asn) c.963A>T (p.Lys321Asn) c.823A>T c.826A>T c.812A>T (n.812A>T) c.865-231A>T (n.865-231A>T) c.*420A>T (n.*420A>T) c.967A>T (p.Arg323Trp) c.*802A>T (n.*802A>T) c.1098A>T (p.Lys366Asn) c.1050A>T (p.Lys350Asn) n.42A>T c.1053A>T (p.Lys351Asn) c.958-231A>T (n.958-231A>T) | |
| X | g.154533033T>C | CA519303516 | G6PD | c.960A>G (p.Lys320=) c.963A>G (p.Lys321=) c.823A>G c.826A>G c.812A>G (n.812A>G) c.865-231A>G (n.865-231A>G) c.*420A>G (n.*420A>G) c.967A>G (p.Arg323Gly) c.*802A>G (n.*802A>G) c.1098A>G (p.Lys366=) c.1050A>G (p.Lys350=) n.42A>G c.1053A>G (p.Lys351=) c.958-231A>G (n.958-231A>G) | |
| X | g.154533033T>G | CA415234570 | G6PD | c.960A>C (p.Lys320Asn) c.963A>C (p.Lys321Asn) c.823A>C c.826A>C c.812A>C (n.812A>C) c.865-231A>C (n.865-231A>C) c.*420A>C (n.*420A>C) c.967A>C (p.Arg323=) c.*802A>C (n.*802A>C) c.1098A>C (p.Lys366Asn) c.1050A>C (p.Lys350Asn) n.42A>C c.1053A>C (p.Lys351Asn) c.958-231A>C (n.958-231A>C) | |
| X | g.154533034T>A | CA415234573 | G6PD | c.959A>T (p.Lys320Ile) c.962A>T (p.Lys321Ile) c.822A>T c.825A>T c.811A>T (n.811A>T) c.865-232A>T (n.865-232A>T) c.*419A>T (n.*419A>T) c.966A>T (p.Gln322His) c.*801A>T (n.*801A>T) c.1097A>T (p.Lys366Ile) c.1049A>T (p.Lys350Ile) c.962A>T n.41A>T c.1052A>T (p.Lys351Ile) c.958-232A>T (n.958-232A>T) | |
| X | g.154533034T>C | CA415234575 | G6PD | c.959A>G (p.Lys320Arg) c.962A>G (p.Lys321Arg) c.822A>G c.825A>G c.811A>G (n.811A>G) c.865-232A>G (n.865-232A>G) c.*419A>G (n.*419A>G) c.966A>G (p.Gln322=) c.*801A>G (n.*801A>G) c.1097A>G (p.Lys366Arg) c.1049A>G (p.Lys350Arg) c.962A>G n.41A>G c.1052A>G (p.Lys351Arg) c.958-232A>G (n.958-232A>G) | dbSNP |
| X | g.154533034T>G | CA415234577 | G6PD | c.959A>C (p.Lys320Thr) c.962A>C (p.Lys321Thr) c.822A>C c.825A>C c.811A>C (n.811A>C) c.865-232A>C (n.865-232A>C) c.*419A>C (n.*419A>C) c.966A>C (p.Gln322His) c.*801A>C (n.*801A>C) c.1097A>C (p.Lys366Thr) c.1049A>C (p.Lys350Thr) c.962A>C n.41A>C c.1052A>C (p.Lys351Thr) c.958-232A>C (n.958-232A>C) | |
| X | g.154533034T= | CA2466723596 | G6PD | c.959A= (p.Lys320=) c.962A= (p.Lys321=) c.822A= c.825A= c.811A= (n.811A=) c.865-232A= (n.865-232A=) c.*419A= (n.*419A=) c.966A= (p.Gln322=) c.*801A= (n.*801A=) c.1097A= (p.Lys366=) c.1049A= (p.Lys350=) c.962A= n.41A= c.1052A= (p.Lys351=) c.958-232A= (n.958-232A=) | |
| X | g.154533035T>A | CA415234581 | G6PD | c.958A>T (p.Lys320Ter) c.961A>T (p.Lys321Ter) c.821A>T c.824A>T c.810A>T (n.810A>T) c.865-233A>T (n.865-233A>T) c.*418A>T (n.*418A>T) c.965A>T (p.Gln322Leu) c.*800A>T (n.*800A>T) c.1096A>T (p.Lys366Ter) c.1048A>T (p.Lys350Ter) c.961A>T n.40A>T c.1051A>T (p.Lys351Ter) c.958-233A>T (n.958-233A>T) | |
| X | g.154533035T>C | CA415234583 | G6PD | c.958A>G (p.Lys320Glu) c.961A>G (p.Lys321Glu) c.821A>G c.824A>G c.810A>G (n.810A>G) c.865-233A>G (n.865-233A>G) c.*418A>G (n.*418A>G) c.965A>G (p.Gln322Arg) c.*800A>G (n.*800A>G) c.1096A>G (p.Lys366Glu) c.1048A>G (p.Lys350Glu) c.961A>G n.40A>G c.1051A>G (p.Lys351Glu) c.958-233A>G (n.958-233A>G) | |
| X | g.154533035T>G | CA415234579 | G6PD | c.958A>C (p.Lys320Gln) c.961A>C (p.Lys321Gln) c.821A>C c.824A>C c.810A>C (n.810A>C) c.865-233A>C (n.865-233A>C) c.*418A>C (n.*418A>C) c.965A>C (p.Gln322Pro) c.*800A>C (n.*800A>C) c.1096A>C (p.Lys366Gln) c.1048A>C (p.Lys350Gln) c.961A>C n.40A>C c.1051A>C (p.Lys351Gln) c.958-233A>C (n.958-233A>C) | |
| X | g.154533036G>A | CA10566106 | G6PD | c.957C>T (p.Thr319=) c.960C>T (p.Thr320=) c.820C>T c.823C>T c.809C>T (n.809C>T) c.865-234C>T (n.865-234C>T) c.*417C>T (n.*417C>T) c.964C>T (p.Gln322Ter) c.*799C>T (n.*799C>T) c.1095C>T (p.Thr365=) c.1047C>T (p.Thr349=) n.39C>T c.1050C>T (p.Thr350=) c.958-234C>T (n.958-234C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |