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.154533021G>A | CA10566105 | G6PD | c.972C>T (p.Asp324=) c.975C>T (p.Asp325=) c.835C>T c.838C>T c.824C>T (n.824C>T) c.865-219C>T (n.865-219C>T) c.*432C>T (n.*432C>T) c.979C>T (p.Arg327Ter) c.*814C>T (n.*814C>T) c.1110C>T (p.Asp370=) c.1062C>T (p.Asp354=) n.54C>T c.1065C>T (p.Asp355=) c.958-219C>T (n.958-219C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
X | g.154533021G>C | CA415234521 | G6PD | c.972C>G (p.Asp324Glu) c.975C>G (p.Asp325Glu) c.835C>G c.838C>G c.824C>G (n.824C>G) c.865-219C>G (n.865-219C>G) c.*432C>G (n.*432C>G) c.979C>G (p.Arg327Gly) c.*814C>G (n.*814C>G) c.1110C>G (p.Asp370Glu) c.1062C>G (p.Asp354Glu) n.54C>G c.1065C>G (p.Asp355Glu) c.958-219C>G (n.958-219C>G) | |
X | g.154533021G= | CA2466723593 | G6PD | c.972C= (p.Asp324=) c.975C= (p.Asp325=) c.835C= c.838C= c.824C= (n.824C=) c.865-219C= (n.865-219C=) c.*432C= (n.*432C=) c.979C= (p.Arg327=) c.*814C= (n.*814C=) c.1110C= (p.Asp370=) c.1062C= (p.Asp354=) n.54C= c.1065C= (p.Asp355=) c.958-219C= (n.958-219C=) | |
X | g.154533021G>T | CA415234523 | G6PD | c.972C>A (p.Asp324Glu) c.975C>A (p.Asp325Glu) c.835C>A c.838C>A c.824C>A (n.824C>A) c.865-219C>A (n.865-219C>A) c.*432C>A (n.*432C>A) c.979C>A (p.Arg327=) c.*814C>A (n.*814C>A) c.1110C>A (p.Asp370Glu) c.1062C>A (p.Asp354Glu) n.54C>A c.1065C>A (p.Asp355Glu) c.958-219C>A (n.958-219C>A) | |
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) | |
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 |
X | g.154533036G>C | CA519303524 | G6PD | c.957C>G (p.Thr319=) c.960C>G (p.Thr320=) c.820C>G c.823C>G c.809C>G (n.809C>G) c.865-234C>G (n.865-234C>G) c.*417C>G (n.*417C>G) c.964C>G (p.Gln322Glu) c.*799C>G (n.*799C>G) c.1095C>G (p.Thr365=) c.1047C>G (p.Thr349=) n.39C>G c.1050C>G (p.Thr350=) c.958-234C>G (n.958-234C>G) | |
X | g.154533036G= | CA2466723597 | G6PD | c.957C= (p.Thr319=) c.960C= (p.Thr320=) c.820C= c.823C= c.809C= (n.809C=) c.865-234C= (n.865-234C=) c.*417C= (n.*417C=) c.964C= (p.Gln322=) c.*799C= (n.*799C=) c.1095C= (p.Thr365=) c.1047C= (p.Thr349=) n.39C= c.1050C= (p.Thr350=) c.958-234C= (n.958-234C=) | |
X | g.154533036G>T | CA519303526 | G6PD | c.957C>A (p.Thr319=) c.960C>A (p.Thr320=) c.820C>A c.823C>A c.809C>A (n.809C>A) c.865-234C>A (n.865-234C>A) c.*417C>A (n.*417C>A) c.964C>A (p.Gln322Lys) c.*799C>A (n.*799C>A) c.1095C>A (p.Thr365=) c.1047C>A (p.Thr349=) n.39C>A c.1050C>A (p.Thr350=) c.958-234C>A (n.958-234C>A) | |
X | g.154533037G>A | CA415234587 | G6PD | c.956C>T (p.Thr319Ile) c.959C>T (p.Thr320Ile) c.819C>T c.822C>T c.808C>T (n.808C>T) c.865-235C>T (n.865-235C>T) c.*416C>T (n.*416C>T) c.963C>T (p.His321=) c.*798C>T (n.*798C>T) c.1094C>T (p.Thr365Ile) c.1046C>T (p.Thr349Ile) n.38C>T c.1049C>T (p.Thr350Ile) c.958-235C>T (n.958-235C>T) | |
X | g.154533037G>C | CA415234589 | G6PD | c.956C>G (p.Thr319Ser) c.959C>G (p.Thr320Ser) c.819C>G c.822C>G c.808C>G (n.808C>G) c.865-235C>G (n.865-235C>G) c.*416C>G (n.*416C>G) c.963C>G (p.His321Gln) c.*798C>G (n.*798C>G) c.1094C>G (p.Thr365Ser) c.1046C>G (p.Thr349Ser) n.38C>G c.1049C>G (p.Thr350Ser) c.958-235C>G (n.958-235C>G) | dbSNP gnomAD v2 |
X | g.154533037G= | CA2466723598 | G6PD | c.956C= (p.Thr319=) c.959C= (p.Thr320=) c.819C= c.822C= c.808C= (n.808C=) c.865-235C= (n.865-235C=) c.*416C= (n.*416C=) c.963C= (p.His321=) c.*798C= (n.*798C=) c.1094C= (p.Thr365=) c.1046C= (p.Thr349=) n.38C= c.1049C= (p.Thr350=) c.958-235C= (n.958-235C=) | |
X | g.154533037G>T | CA415234590 | G6PD | c.956C>A (p.Thr319Asn) c.959C>A (p.Thr320Asn) c.819C>A c.822C>A c.808C>A (n.808C>A) c.865-235C>A (n.865-235C>A) c.*416C>A (n.*416C>A) c.963C>A (p.His321Gln) c.*798C>A (n.*798C>A) c.1094C>A (p.Thr365Asn) c.1046C>A (p.Thr349Asn) n.38C>A c.1049C>A (p.Thr350Asn) c.958-235C>A (n.958-235C>A) | |
X | g.154533038T>A | CA415234593 | G6PD | c.955A>T (p.Thr319Ser) c.958A>T (p.Thr320Ser) c.818A>T c.821A>T c.807A>T (n.807A>T) c.865-236A>T (n.865-236A>T) c.*415A>T (n.*415A>T) c.962A>T (p.His321Leu) c.*797A>T (n.*797A>T) c.1093A>T (p.Thr365Ser) c.1045A>T (p.Thr349Ser) n.37A>T c.1048A>T (p.Thr350Ser) c.958-236A>T (n.958-236A>T) | |
X | g.154533038T>C | CA415234594 | G6PD | c.955A>G (p.Thr319Ala) c.958A>G (p.Thr320Ala) c.818A>G c.821A>G c.807A>G (n.807A>G) c.865-236A>G (n.865-236A>G) c.*415A>G (n.*415A>G) c.962A>G (p.His321Arg) c.*797A>G (n.*797A>G) c.1093A>G (p.Thr365Ala) c.1045A>G (p.Thr349Ala) n.37A>G c.1048A>G (p.Thr350Ala) c.958-236A>G (n.958-236A>G) | |
X | g.154533038T>G | CA415234595 | G6PD | c.955A>C (p.Thr319Pro) c.958A>C (p.Thr320Pro) c.818A>C c.821A>C c.807A>C (n.807A>C) c.865-236A>C (n.865-236A>C) c.*415A>C (n.*415A>C) c.962A>C (p.His321Pro) c.*797A>C (n.*797A>C) c.1093A>C (p.Thr365Pro) c.1045A>C (p.Thr349Pro) n.37A>C c.1048A>C (p.Thr350Pro) c.958-236A>C (n.958-236A>C) | |
X | g.154533039G>A | CA519303538 | G6PD | c.954C>T (p.Ala318=) c.957C>T (p.Ala319=) c.817C>T c.820C>T c.806C>T (n.806C>T) c.865-237C>T (n.865-237C>T) c.*414C>T (n.*414C>T) c.961C>T (p.His321Tyr) c.*796C>T (n.*796C>T) c.1092C>T (p.Ala364=) c.1044C>T (p.Ala348=) n.36C>T c.1047C>T (p.Ala349=) c.958-237C>T (n.958-237C>T) | |
X | g.154533039G>C | CA519303536 | G6PD | c.954C>G (p.Ala318=) c.957C>G (p.Ala319=) c.817C>G c.820C>G c.806C>G (n.806C>G) c.865-237C>G (n.865-237C>G) c.*414C>G (n.*414C>G) c.961C>G (p.His321Asp) c.*796C>G (n.*796C>G) c.1092C>G (p.Ala364=) c.1044C>G (p.Ala348=) n.36C>G c.1047C>G (p.Ala349=) c.958-237C>G (n.958-237C>G) | |
X | g.154533039G>T | CA519303535 | G6PD | c.954C>A (p.Ala318=) c.957C>A (p.Ala319=) c.817C>A c.820C>A c.806C>A (n.806C>A) c.865-237C>A (n.865-237C>A) c.*414C>A (n.*414C>A) c.961C>A (p.His321Asn) c.*796C>A (n.*796C>A) c.1092C>A (p.Ala364=) c.1044C>A (p.Ala348=) n.36C>A c.1047C>A (p.Ala349=) c.958-237C>A (n.958-237C>A) | |
X | g.154533040G>A | CA415234598 | G6PD | c.953C>T (p.Ala318Val) c.956C>T (p.Ala319Val) c.816C>T c.819C>T c.805C>T (n.805C>T) c.865-238C>T (n.865-238C>T) c.*413C>T (n.*413C>T) c.960C>T (p.Gly320=) c.*795C>T (n.*795C>T) c.1091C>T (p.Ala364Val) c.1043C>T (p.Ala348Val) n.35C>T c.1046C>T (p.Ala349Val) c.958-238C>T (n.958-238C>T) | |
X | g.154533040G>C | CA415234600 | G6PD | c.953C>G (p.Ala318Gly) c.956C>G (p.Ala319Gly) c.816C>G c.819C>G c.805C>G (n.805C>G) c.865-238C>G (n.865-238C>G) c.*413C>G (n.*413C>G) c.960C>G (p.Gly320=) c.*795C>G (n.*795C>G) c.1091C>G (p.Ala364Gly) c.1043C>G (p.Ala348Gly) n.35C>G c.1046C>G (p.Ala349Gly) c.958-238C>G (n.958-238C>G) | |
X | g.154533040G>T | CA415234601 | G6PD | c.953C>A (p.Ala318Asp) c.956C>A (p.Ala319Asp) c.816C>A c.819C>A c.805C>A (n.805C>A) c.865-238C>A (n.865-238C>A) c.*413C>A (n.*413C>A) c.960C>A (p.Gly320=) c.*795C>A (n.*795C>A) c.1091C>A (p.Ala364Asp) c.1043C>A (p.Ala348Asp) n.35C>A c.1046C>A (p.Ala349Asp) c.958-238C>A (n.958-238C>A) | |
X | g.154533041C>A | CA415234604 | G6PD | c.952G>T (p.Ala318Ser) c.955G>T (p.Ala319Ser) c.815G>T c.818G>T c.804G>T (n.804G>T) c.865-239G>T (n.865-239G>T) c.*412G>T (n.*412G>T) c.959G>T (p.Gly320Val) c.*794G>T (n.*794G>T) c.1090G>T (p.Ala364Ser) c.1042G>T (p.Ala348Ser) n.34G>T c.1045G>T (p.Ala349Ser) c.958-239G>T (n.958-239G>T) | |
X | g.154533041C>G | CA415234607 | G6PD | c.952G>C (p.Ala318Pro) c.955G>C (p.Ala319Pro) c.815G>C c.818G>C c.804G>C (n.804G>C) c.865-239G>C (n.865-239G>C) c.*412G>C (n.*412G>C) c.959G>C (p.Gly320Ala) c.*794G>C (n.*794G>C) c.1090G>C (p.Ala364Pro) c.1042G>C (p.Ala348Pro) n.34G>C c.1045G>C (p.Ala349Pro) c.958-239G>C (n.958-239G>C) | |
X | g.154533041C>T | CA415234609 | G6PD | c.952G>A (p.Ala318Thr) c.955G>A (p.Ala319Thr) c.815G>A c.818G>A c.804G>A (n.804G>A) c.865-239G>A (n.865-239G>A) c.*412G>A (n.*412G>A) c.959G>A (p.Gly320Asp) c.*794G>A (n.*794G>A) c.1090G>A (p.Ala364Thr) c.1042G>A (p.Ala348Thr) n.34G>A c.1045G>A (p.Ala349Thr) c.958-239G>A (n.958-239G>A) | |
X | g.154533042C>A | CA415234611 | G6PD | c.951G>T (p.Glu317Asp) c.954G>T (p.Glu318Asp) c.814G>T c.817G>T c.803G>T (n.803G>T) c.865-240G>T (n.865-240G>T) c.*411G>T (n.*411G>T) c.958G>T (p.Gly320Cys) c.*793G>T (n.*793G>T) c.1089G>T (p.Glu363Asp) c.1041G>T (p.Glu347Asp) n.33G>T c.1044G>T (p.Glu348Asp) c.958-240G>T (n.958-240G>T) | |
X | g.154533042C= | CA2466723599 | G6PD | c.951G= (p.Glu317=) c.954G= (p.Glu318=) c.814G= c.817G= c.803G= (n.803G=) c.865-240G= (n.865-240G=) c.*411G= (n.*411G=) c.958G= (p.Gly320=) c.*793G= (n.*793G=) c.1089G= (p.Glu363=) c.1041G= (p.Glu347=) n.33G= c.1044G= (p.Glu348=) c.958-240G= (n.958-240G=) | |
X | g.154533042C>G | CA415234614 | G6PD | c.951G>C (p.Glu317Asp) c.954G>C (p.Glu318Asp) c.814G>C c.817G>C c.803G>C (n.803G>C) c.865-240G>C (n.865-240G>C) c.*411G>C (n.*411G>C) c.958G>C (p.Gly320Arg) c.*793G>C (n.*793G>C) c.1089G>C (p.Glu363Asp) c.1041G>C (p.Glu347Asp) n.33G>C c.1044G>C (p.Glu348Asp) c.958-240G>C (n.958-240G>C) | |
X | g.154533042C>T | CA337316665 | G6PD | c.951G>A (p.Glu317=) c.954G>A (p.Glu318=) c.814G>A c.817G>A c.803G>A (n.803G>A) c.865-240G>A (n.865-240G>A) c.*411G>A (n.*411G>A) c.958G>A (p.Gly320Ser) c.*793G>A (n.*793G>A) c.1089G>A (p.Glu363=) c.1041G>A (p.Glu347=) n.33G>A c.1044G>A (p.Glu348=) c.958-240G>A (n.958-240G>A) | dbSNP gnomAD v4 |
X | g.154533043T>A | CA415234616 | G6PD | c.950A>T (p.Glu317Val) c.953A>T (p.Glu318Val) c.813A>T c.816A>T c.802A>T (n.802A>T) c.865-241A>T (n.865-241A>T) c.*410A>T (n.*410A>T) c.957A>T (p.Arg319=) c.*792A>T (n.*792A>T) c.1088A>T (p.Glu363Val) c.1040A>T (p.Glu347Val) n.32A>T c.1043A>T (p.Glu348Val) c.958-241A>T (n.958-241A>T) | |
X | g.154533043T>C | CA415234618 | G6PD | c.950A>G (p.Glu317Gly) c.953A>G (p.Glu318Gly) c.813A>G c.816A>G c.802A>G (n.802A>G) c.865-241A>G (n.865-241A>G) c.*410A>G (n.*410A>G) c.957A>G (p.Arg319=) c.*792A>G (n.*792A>G) c.1088A>G (p.Glu363Gly) c.1040A>G (p.Glu347Gly) n.32A>G c.1043A>G (p.Glu348Gly) c.958-241A>G (n.958-241A>G) | |
X | g.154533043T>G | CA415234620 | G6PD | c.950A>C (p.Glu317Ala) c.953A>C (p.Glu318Ala) c.813A>C c.816A>C c.802A>C (n.802A>C) c.865-241A>C (n.865-241A>C) c.*410A>C (n.*410A>C) c.957A>C (p.Arg319=) c.*792A>C (n.*792A>C) c.1088A>C (p.Glu363Ala) c.1040A>C (p.Glu347Ala) n.32A>C c.1043A>C (p.Glu348Ala) c.958-241A>C (n.958-241A>C) | |
X | g.154533044C>A | CA415234621 | G6PD | c.949G>T (p.Glu317Ter) c.952G>T (p.Glu318Ter) c.812G>T c.815G>T c.801G>T (n.801G>T) c.865-242G>T (n.865-242G>T) c.*409G>T (n.*409G>T) c.956G>T (p.Arg319Leu) c.*791G>T (n.*791G>T) c.1087G>T (p.Glu363Ter) c.1039G>T (p.Glu347Ter) n.31G>T c.1042G>T (p.Glu348Ter) c.958-242G>T (n.958-242G>T) | |
X | g.154533044C= | CA2466723600 | G6PD | c.949G= (p.Glu317=) c.952G= (p.Glu318=) c.812G= c.815G= c.801G= (n.801G=) c.865-242G= (n.865-242G=) c.*409G= (n.*409G=) c.956G= (p.Arg319=) c.*791G= (n.*791G=) c.1087G= (p.Glu363=) c.1039G= (p.Glu347=) n.31G= c.1042G= (p.Glu348=) c.958-242G= (n.958-242G=) | |
X | g.154533044C>G | CA415234623 | G6PD | c.949G>C (p.Glu317Gln) c.952G>C (p.Glu318Gln) c.812G>C c.815G>C c.801G>C (n.801G>C) c.865-242G>C (n.865-242G>C) c.*409G>C (n.*409G>C) c.956G>C (p.Arg319Pro) c.*791G>C (n.*791G>C) c.1087G>C (p.Glu363Gln) c.1039G>C (p.Glu347Gln) n.31G>C c.1042G>C (p.Glu348Gln) c.958-242G>C (n.958-242G>C) | |
X | g.154533044C>T | CA121019 | G6PD | c.949G>A (p.Glu317Lys) c.952G>A (p.Glu318Lys) c.812G>A c.815G>A c.801G>A (n.801G>A) c.865-242G>A (n.865-242G>A) c.*409G>A (n.*409G>A) c.956G>A (p.Arg319Gln) c.*791G>A (n.*791G>A) c.1087G>A (p.Glu363Lys) c.1039G>A (p.Glu347Lys) n.31G>A c.1042G>A (p.Glu348Lys) c.958-242G>A (n.958-242G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154533045G>A | CA10566107 | G6PD | c.948C>T (p.Gly316=) c.951C>T (p.Gly317=) c.811C>T c.814C>T c.800C>T (n.800C>T) c.865-243C>T (n.865-243C>T) c.*408C>T (n.*408C>T) c.955C>T (p.Arg319Ter) c.*790C>T (n.*790C>T) c.1086C>T (p.Gly362=) c.1038C>T (p.Gly346=) n.30C>T c.1041C>T (p.Gly347=) c.958-243C>T (n.958-243C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
X | g.154533045G>C | CA519303556 | G6PD | c.948C>G (p.Gly316=) c.951C>G (p.Gly317=) c.811C>G c.814C>G c.800C>G (n.800C>G) c.865-243C>G (n.865-243C>G) c.*408C>G (n.*408C>G) c.955C>G (p.Arg319Gly) c.*790C>G (n.*790C>G) c.1086C>G (p.Gly362=) c.1038C>G (p.Gly346=) n.30C>G c.1041C>G (p.Gly347=) c.958-243C>G (n.958-243C>G) | |
X | g.154533045G= | CA2466723601 | G6PD | c.948C= (p.Gly316=) c.951C= (p.Gly317=) c.811C= c.814C= c.800C= (n.800C=) c.865-243C= (n.865-243C=) c.*408C= (n.*408C=) c.955C= (p.Arg319=) c.*790C= (n.*790C=) c.1086C= (p.Gly362=) c.1038C= (p.Gly346=) n.30C= c.1041C= (p.Gly347=) c.958-243C= (n.958-243C=) | |
X | g.154533045G>T | CA519303558 | G6PD | c.948C>A (p.Gly316=) c.951C>A (p.Gly317=) c.811C>A c.814C>A c.800C>A (n.800C>A) c.865-243C>A (n.865-243C>A) c.*408C>A (n.*408C>A) c.955C>A (p.Arg319=) c.*790C>A (n.*790C>A) c.1086C>A (p.Gly362=) c.1038C>A (p.Gly346=) n.30C>A c.1041C>A (p.Gly347=) c.958-243C>A (n.958-243C>A) | |
X | g.154533046C>A | CA415234627 | G6PD | c.947G>T (p.Gly316Val) c.950G>T (p.Gly317Val) c.810G>T c.813G>T c.799G>T (n.799G>T) c.865-244G>T (n.865-244G>T) c.*407G>T (n.*407G>T) c.954G>T (p.Gly318=) c.*789G>T (n.*789G>T) c.1085G>T (p.Gly362Val) c.1037G>T (p.Gly346Val) n.29G>T c.1040G>T (p.Gly347Val) c.958-244G>T (n.958-244G>T) | |
X | g.154533046C= | CA2466723602 | G6PD | c.947G= (p.Gly316=) c.950G= (p.Gly317=) c.810G= c.813G= c.799G= (n.799G=) c.865-244G= (n.865-244G=) c.*407G= (n.*407G=) c.954G= (p.Gly318=) c.*789G= (n.*789G=) c.1085G= (p.Gly362=) c.1037G= (p.Gly346=) n.29G= c.1040G= (p.Gly347=) c.958-244G= (n.958-244G=) | |
X | g.154533046C>G | CA415234629 | G6PD | c.947G>C (p.Gly316Ala) c.950G>C (p.Gly317Ala) c.810G>C c.813G>C c.799G>C (n.799G>C) c.865-244G>C (n.865-244G>C) c.*407G>C (n.*407G>C) c.954G>C (p.Gly318=) c.*789G>C (n.*789G>C) c.1085G>C (p.Gly362Ala) c.1037G>C (p.Gly346Ala) n.29G>C c.1040G>C (p.Gly347Ala) c.958-244G>C (n.958-244G>C) | |
X | g.154533046C>T | CA10566108 | G6PD | c.947G>A (p.Gly316Asp) c.950G>A (p.Gly317Asp) c.810G>A c.813G>A c.799G>A (n.799G>A) c.865-244G>A (n.865-244G>A) c.*407G>A (n.*407G>A) c.954G>A (p.Gly318=) c.*789G>A (n.*789G>A) c.1085G>A (p.Gly362Asp) c.1037G>A (p.Gly346Asp) n.29G>A c.1040G>A (p.Gly347Asp) c.958-244G>A (n.958-244G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154533048dup | CA2695144423 | G6PD | c.947dup (p.Glu317ArgfsTer?) c.950dup (p.Glu318ArgfsTer?) c.810dup c.813dup c.799dup (n.799dup) c.865-244dup (n.865-244dup) c.*407dup (n.*407dup) c.954dup (p.Arg319AlafsTer?) c.*789dup (n.*789dup) c.1085dup (p.Glu363ArgfsTer?) c.1037dup (p.Glu347ArgfsTer?) n.29dup c.1040dup (p.Glu348ArgfsTer?) c.958-244dup (n.958-244dup) | gnomAD v4 |
X | g.154533047C>A | CA415234635 | G6PD | c.946G>T (p.Gly316Cys) c.949G>T (p.Gly317Cys) c.809G>T c.812G>T c.798G>T (n.798G>T) c.865-245G>T (n.865-245G>T) c.*406G>T (n.*406G>T) c.953G>T (p.Gly318Val) c.*788G>T (n.*788G>T) c.1084G>T (p.Gly362Cys) c.1036G>T (p.Gly346Cys) n.28G>T c.1039G>T (p.Gly347Cys) c.958-245G>T (n.958-245G>T) | |
X | g.154533047C>G | CA415234637 | G6PD | c.946G>C (p.Gly316Arg) c.949G>C (p.Gly317Arg) c.809G>C c.812G>C c.798G>C (n.798G>C) c.865-245G>C (n.865-245G>C) c.*406G>C (n.*406G>C) c.953G>C (p.Gly318Ala) c.*788G>C (n.*788G>C) c.1084G>C (p.Gly362Arg) c.1036G>C (p.Gly346Arg) n.28G>C c.1039G>C (p.Gly347Arg) c.958-245G>C (n.958-245G>C) | |
X | g.154533047C>T | CA415234632 | G6PD | c.946G>A (p.Gly316Ser) c.949G>A (p.Gly317Ser) c.809G>A c.812G>A c.798G>A (n.798G>A) c.865-245G>A (n.865-245G>A) c.*406G>A (n.*406G>A) c.953G>A (p.Gly318Glu) c.*788G>A (n.*788G>A) c.1084G>A (p.Gly362Ser) c.1036G>A (p.Gly346Ser) n.28G>A c.1039G>A (p.Gly347Ser) c.958-245G>A (n.958-245G>A) | gnomAD v4 |
X | g.154533048C>A | CA415234639 | G6PD | c.945G>T (p.Glu315Asp) c.948G>T (p.Glu316Asp) c.808G>T c.811G>T c.797G>T (n.797G>T) c.865-246G>T (n.865-246G>T) c.*405G>T (n.*405G>T) c.952G>T (p.Gly318Trp) c.*787G>T (n.*787G>T) c.1083G>T (p.Glu361Asp) c.1035G>T (p.Glu345Asp) n.27G>T c.1038G>T (p.Glu346Asp) c.958-246G>T (n.958-246G>T) | |
X | g.154533048C>G | CA415234641 | G6PD | c.945G>C (p.Glu315Asp) c.948G>C (p.Glu316Asp) c.808G>C c.811G>C c.797G>C (n.797G>C) c.865-246G>C (n.865-246G>C) c.*405G>C (n.*405G>C) c.952G>C (p.Gly318Arg) c.*787G>C (n.*787G>C) c.1083G>C (p.Glu361Asp) c.1035G>C (p.Glu345Asp) n.27G>C c.1038G>C (p.Glu346Asp) c.958-246G>C (n.958-246G>C) | ClinVar dbSNP |
X | g.154533048C>T | CA519303567 | G6PD | c.945G>A (p.Glu315=) c.948G>A (p.Glu316=) c.808G>A c.811G>A c.797G>A (n.797G>A) c.865-246G>A (n.865-246G>A) c.*405G>A (n.*405G>A) c.952G>A (p.Gly318Arg) c.*787G>A (n.*787G>A) c.1083G>A (p.Glu361=) c.1035G>A (p.Glu345=) n.27G>A c.1038G>A (p.Glu346=) c.958-246G>A (n.958-246G>A) | |
X | g.154533049T>A | CA415234643 | G6PD | c.944A>T (p.Glu315Val) c.947A>T (p.Glu316Val) c.807A>T c.810A>T c.796A>T (n.796A>T) c.865-247A>T (n.865-247A>T) c.*404A>T (n.*404A>T) c.951A>T (p.Arg317Ser) c.*786A>T (n.*786A>T) c.1082A>T (p.Glu361Val) c.1034A>T (p.Glu345Val) n.26A>T c.1037A>T (p.Glu346Val) c.958-247A>T (n.958-247A>T) | |
X | g.154533049T>C | CA415234645 | G6PD | c.944A>G (p.Glu315Gly) c.947A>G (p.Glu316Gly) c.807A>G c.810A>G c.796A>G (n.796A>G) c.865-247A>G (n.865-247A>G) c.*404A>G (n.*404A>G) c.951A>G (p.Arg317=) c.*786A>G (n.*786A>G) c.1082A>G (p.Glu361Gly) c.1034A>G (p.Glu345Gly) n.26A>G c.1037A>G (p.Glu346Gly) c.958-247A>G (n.958-247A>G) | |
X | g.154533049T>G | CA415234647 | G6PD | c.944A>C (p.Glu315Ala) c.947A>C (p.Glu316Ala) c.807A>C c.810A>C c.796A>C (n.796A>C) c.865-247A>C (n.865-247A>C) c.*404A>C (n.*404A>C) c.951A>C (p.Arg317Ser) c.*786A>C (n.*786A>C) c.1082A>C (p.Glu361Ala) c.1034A>C (p.Glu345Ala) n.26A>C c.1037A>C (p.Glu346Ala) c.958-247A>C (n.958-247A>C) | |
X | g.154533050C>A | CA415234648 | G6PD | c.943G>T (p.Glu315Ter) c.946G>T (p.Glu316Ter) c.806G>T c.809G>T c.795G>T (n.795G>T) c.865-248G>T (n.865-248G>T) c.*403G>T (n.*403G>T) c.950G>T (p.Arg317Ile) c.*785G>T (n.*785G>T) c.1081G>T (p.Glu361Ter) c.1033G>T (p.Glu345Ter) n.25G>T c.1036G>T (p.Glu346Ter) c.958-248G>T (n.958-248G>T) | |
X | g.154533050C>G | CA415234649 | G6PD | c.943G>C (p.Glu315Gln) c.946G>C (p.Glu316Gln) c.806G>C c.809G>C c.795G>C (n.795G>C) c.865-248G>C (n.865-248G>C) c.*403G>C (n.*403G>C) c.950G>C (p.Arg317Thr) c.*785G>C (n.*785G>C) c.1081G>C (p.Glu361Gln) c.1033G>C (p.Glu345Gln) n.25G>C c.1036G>C (p.Glu346Gln) c.958-248G>C (n.958-248G>C) | |
X | g.154533050C>T | CA415234651 | G6PD | c.943G>A (p.Glu315Lys) c.946G>A (p.Glu316Lys) c.806G>A c.809G>A c.795G>A (n.795G>A) c.865-248G>A (n.865-248G>A) c.*403G>A (n.*403G>A) c.950G>A (p.Arg317Lys) c.*785G>A (n.*785G>A) c.1081G>A (p.Glu361Lys) c.1033G>A (p.Glu345Lys) n.25G>A c.1036G>A (p.Glu346Lys) c.958-248G>A (n.958-248G>A) | |
X | g.154533051T>A | CA519303576 | G6PD | c.942A>T (p.Gly314=) c.945A>T (p.Gly315=) c.805A>T c.808A>T c.794A>T (n.794A>T) c.865-249A>T (n.865-249A>T) c.*402A>T (n.*402A>T) c.949A>T (p.Arg317Ter) c.*784A>T (n.*784A>T) c.1080A>T (p.Gly360=) c.1032A>T (p.Gly344=) n.24A>T c.1035A>T (p.Gly345=) c.958-249A>T (n.958-249A>T) | |
X | g.154533051T>C | CA519303577 | G6PD | c.942A>G (p.Gly314=) c.945A>G (p.Gly315=) c.805A>G c.808A>G c.794A>G (n.794A>G) c.865-249A>G (n.865-249A>G) c.*402A>G (n.*402A>G) c.949A>G (p.Arg317Gly) c.*784A>G (n.*784A>G) c.1080A>G (p.Gly360=) c.1032A>G (p.Gly344=) n.24A>G c.1035A>G (p.Gly345=) c.958-249A>G (n.958-249A>G) | |
X | g.154533051T>G | CA519303579 | G6PD | c.942A>C (p.Gly314=) c.945A>C (p.Gly315=) c.805A>C c.808A>C c.794A>C (n.794A>C) c.865-249A>C (n.865-249A>C) c.*402A>C (n.*402A>C) c.949A>C (p.Arg317=) c.*784A>C (n.*784A>C) c.1080A>C (p.Gly360=) c.1032A>C (p.Gly344=) n.24A>C c.1035A>C (p.Gly345=) c.958-249A>C (n.958-249A>C) | |
X | g.154533052C>A | CA415234654 | G6PD | c.941G>T (p.Gly314Val) c.944G>T (p.Gly315Val) c.804G>T c.807G>T c.793G>T (n.793G>T) c.865-250G>T (n.865-250G>T) c.*401G>T (n.*401G>T) c.948G>T (p.Trp316Cys) c.*783G>T (n.*783G>T) c.1079G>T (p.Gly360Val) c.1031G>T (p.Gly344Val) n.23G>T c.1034G>T (p.Gly345Val) c.958-250G>T (n.958-250G>T) | |
X | g.154533052C>G | CA415234656 | G6PD | c.941G>C (p.Gly314Ala) c.944G>C (p.Gly315Ala) c.804G>C c.807G>C c.793G>C (n.793G>C) c.865-250G>C (n.865-250G>C) c.*401G>C (n.*401G>C) c.948G>C (p.Trp316Cys) c.*783G>C (n.*783G>C) c.1079G>C (p.Gly360Ala) c.1031G>C (p.Gly344Ala) n.23G>C c.1034G>C (p.Gly345Ala) c.958-250G>C (n.958-250G>C) | |
X | g.154533052C>T | CA415234658 | G6PD | c.941G>A (p.Gly314Glu) c.944G>A (p.Gly315Glu) c.804G>A c.807G>A c.793G>A (n.793G>A) c.865-250G>A (n.865-250G>A) c.*401G>A (n.*401G>A) c.948G>A (p.Trp316Ter) c.*783G>A (n.*783G>A) c.1079G>A (p.Gly360Glu) c.1031G>A (p.Gly344Glu) n.23G>A c.1034G>A (p.Gly345Glu) c.958-250G>A (n.958-250G>A) | |
X | g.154533053C>A | CA415234661 | G6PD | c.940G>T (p.Gly314Ter) c.943G>T (p.Gly315Ter) c.803G>T c.806G>T c.792G>T (n.792G>T) c.865-251G>T (n.865-251G>T) c.*400G>T (n.*400G>T) c.947G>T (p.Trp316Leu) c.*782G>T (n.*782G>T) c.1078G>T (p.Gly360Ter) c.1030G>T (p.Gly344Ter) n.22G>T c.1033G>T (p.Gly345Ter) c.958-251G>T (n.958-251G>T) | |
X | g.154533053C>G | CA415234662 | G6PD | c.940G>C (p.Gly314Arg) c.943G>C (p.Gly315Arg) c.803G>C c.806G>C c.792G>C (n.792G>C) c.865-251G>C (n.865-251G>C) c.*400G>C (n.*400G>C) c.947G>C (p.Trp316Ser) c.*782G>C (n.*782G>C) c.1078G>C (p.Gly360Arg) c.1030G>C (p.Gly344Arg) n.22G>C c.1033G>C (p.Gly345Arg) c.958-251G>C (n.958-251G>C) | |
X | g.154533053C>T | CA415234660 | G6PD | c.940G>A (p.Gly314Arg) c.943G>A (p.Gly315Arg) c.803G>A c.806G>A c.792G>A (n.792G>A) c.865-251G>A (n.865-251G>A) c.*400G>A (n.*400G>A) c.947G>A (p.Trp316Ter) c.*782G>A (n.*782G>A) c.1078G>A (p.Gly360Arg) c.1030G>A (p.Gly344Arg) n.22G>A c.1033G>A (p.Gly345Arg) c.958-251G>A (n.958-251G>A) | |
X | g.154533054A= | CA2466723603 | G6PD | c.939T= (p.Asp313=) c.942T= (p.Asp314=) c.802T= c.805T= c.791T= (n.791T=) c.865-252T= (n.865-252T=) c.*399T= (n.*399T=) c.946T= (p.Trp316=) c.*781T= (n.*781T=) c.1077T= (p.Asp359=) c.1029T= (p.Asp343=) n.21T= c.1032T= (p.Asp344=) c.958-252T= (n.958-252T=) | |
X | g.154533054A>C | CA415234664 | G6PD | c.939T>G (p.Asp313Glu) c.942T>G (p.Asp314Glu) c.802T>G c.805T>G c.791T>G (n.791T>G) c.865-252T>G (n.865-252T>G) c.*399T>G (n.*399T>G) c.946T>G (p.Trp316Gly) c.*781T>G (n.*781T>G) c.1077T>G (p.Asp359Glu) c.1029T>G (p.Asp343Glu) n.21T>G c.1032T>G (p.Asp344Glu) c.958-252T>G (n.958-252T>G) | |
X | g.154533054A>G | CA519303586 | G6PD | c.939T>C (p.Asp313=) c.942T>C (p.Asp314=) c.802T>C c.805T>C c.791T>C (n.791T>C) c.865-252T>C (n.865-252T>C) c.*399T>C (n.*399T>C) c.946T>C (p.Trp316Arg) c.*781T>C (n.*781T>C) c.1077T>C (p.Asp359=) c.1029T>C (p.Asp343=) n.21T>C c.1032T>C (p.Asp344=) c.958-252T>C (n.958-252T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.154533054A>T | CA415234666 | G6PD | c.939T>A (p.Asp313Glu) c.942T>A (p.Asp314Glu) c.802T>A c.805T>A c.791T>A (n.791T>A) c.865-252T>A (n.865-252T>A) c.*399T>A (n.*399T>A) c.946T>A (p.Trp316Arg) c.*781T>A (n.*781T>A) c.1077T>A (p.Asp359Glu) c.1029T>A (p.Asp343Glu) n.21T>A c.1032T>A (p.Asp344Glu) c.958-252T>A (n.958-252T>A) | |
X | g.154533055T>A | CA415234669 | G6PD | c.938A>T (p.Asp313Val) c.941A>T (p.Asp314Val) c.801A>T c.804A>T c.790A>T (n.790A>T) c.865-253A>T (n.865-253A>T) c.*398A>T (n.*398A>T) c.945A>T (p.Arg315=) c.*780A>T (n.*780A>T) c.1076A>T (p.Asp359Val) c.1028A>T (p.Asp343Val) n.20A>T c.1031A>T (p.Asp344Val) c.958-253A>T (n.958-253A>T) | |
X | g.154533055T>C | CA415234670 | G6PD | c.938A>G (p.Asp313Gly) c.941A>G (p.Asp314Gly) c.801A>G c.804A>G c.790A>G (n.790A>G) c.865-253A>G (n.865-253A>G) c.*398A>G (n.*398A>G) c.945A>G (p.Arg315=) c.*780A>G (n.*780A>G) c.1076A>G (p.Asp359Gly) c.1028A>G (p.Asp343Gly) n.20A>G c.1031A>G (p.Asp344Gly) c.958-253A>G (n.958-253A>G) | |
X | g.154533055T>G | CA415234671 | G6PD | c.938A>C (p.Asp313Ala) c.941A>C (p.Asp314Ala) c.801A>C c.804A>C c.790A>C (n.790A>C) c.865-253A>C (n.865-253A>C) c.*398A>C (n.*398A>C) c.945A>C (p.Arg315=) c.*780A>C (n.*780A>C) c.1076A>C (p.Asp359Ala) c.1028A>C (p.Asp343Ala) n.20A>C c.1031A>C (p.Asp344Ala) c.958-253A>C (n.958-253A>C) | |
X | g.154533056C>A | CA415234676 | G6PD | c.937G>T (p.Asp313Tyr) c.940G>T (p.Asp314Tyr) c.800G>T c.803G>T c.789G>T (n.789G>T) c.865-254G>T (n.865-254G>T) c.*397G>T (n.*397G>T) c.944G>T (p.Arg315Leu) c.*779G>T (n.*779G>T) c.1075G>T (p.Asp359Tyr) c.1027G>T (p.Asp343Tyr) n.19G>T c.1030G>T (p.Asp344Tyr) c.958-254G>T (n.958-254G>T) | |
X | g.154533056C= | CA2466723604 | G6PD | c.937G= (p.Asp313=) c.940G= (p.Asp314=) c.800G= c.803G= c.789G= (n.789G=) c.865-254G= (n.865-254G=) c.*397G= (n.*397G=) c.944G= (p.Arg315=) c.*779G= (n.*779G=) c.1075G= (p.Asp359=) c.1027G= (p.Asp343=) n.19G= c.1030G= (p.Asp344=) c.958-254G= (n.958-254G=) | |
X | g.154533056C>G | CA415234674 | G6PD | c.937G>C (p.Asp313His) c.940G>C (p.Asp314His) c.800G>C c.803G>C c.789G>C (n.789G>C) c.865-254G>C (n.865-254G>C) c.*397G>C (n.*397G>C) c.944G>C (p.Arg315Pro) c.*779G>C (n.*779G>C) c.1075G>C (p.Asp359His) c.1027G>C (p.Asp343His) n.19G>C c.1030G>C (p.Asp344His) c.958-254G>C (n.958-254G>C) | |
X | g.154533056C>T | CA10566109 | G6PD | c.937G>A (p.Asp313Asn) c.940G>A (p.Asp314Asn) c.800G>A c.803G>A c.789G>A (n.789G>A) c.865-254G>A (n.865-254G>A) c.*397G>A (n.*397G>A) c.944G>A (p.Arg315Gln) c.*779G>A (n.*779G>A) c.1075G>A (p.Asp359Asn) c.1027G>A (p.Asp343Asn) n.19G>A c.1030G>A (p.Asp344Asn) c.958-254G>A (n.958-254G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
X | g.154533057G>A | CA519303594 | G6PD | c.936C>T (p.Pro312=) c.939C>T (p.Pro313=) c.799C>T c.802C>T c.788C>T (n.788C>T) c.865-255C>T (n.865-255C>T) c.*396C>T (n.*396C>T) c.943C>T (p.Arg315Ter) c.*778C>T (n.*778C>T) c.1074C>T (p.Pro358=) c.1026C>T (p.Pro342=) n.18C>T c.1029C>T (p.Pro343=) c.958-255C>T (n.958-255C>T) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
X | g.154533057G>C | CA519303597 | G6PD | c.936C>G (p.Pro312=) c.939C>G (p.Pro313=) c.799C>G c.802C>G c.788C>G (n.788C>G) c.865-255C>G (n.865-255C>G) c.*396C>G (n.*396C>G) c.943C>G (p.Arg315Gly) c.*778C>G (n.*778C>G) c.1074C>G (p.Pro358=) c.1026C>G (p.Pro342=) n.18C>G c.1029C>G (p.Pro343=) c.958-255C>G (n.958-255C>G) | |
X | g.154533057G= | CA2466723605 | G6PD | c.936C= (p.Pro312=) c.939C= (p.Pro313=) c.799C= c.802C= c.788C= (n.788C=) c.865-255C= (n.865-255C=) c.*396C= (n.*396C=) c.943C= (p.Arg315=) c.*778C= (n.*778C=) c.1074C= (p.Pro358=) c.1026C= (p.Pro342=) n.18C= c.1029C= (p.Pro343=) c.958-255C= (n.958-255C=) | |
X | g.154533057G>T | CA519303595 | G6PD | c.936C>A (p.Pro312=) c.939C>A (p.Pro313=) c.799C>A c.802C>A c.788C>A (n.788C>A) c.865-255C>A (n.865-255C>A) c.*396C>A (n.*396C>A) c.943C>A (p.Arg315=) c.*778C>A (n.*778C>A) c.1074C>A (p.Pro358=) c.1026C>A (p.Pro342=) n.18C>A c.1029C>A (p.Pro343=) c.958-255C>A (n.958-255C>A) | |
X | g.154533058G>A | CA415234679 | G6PD | c.935C>T (p.Pro312Leu) c.938C>T (p.Pro313Leu) c.798C>T c.801C>T c.787C>T (n.787C>T) c.865-256C>T (n.865-256C>T) c.*395C>T (n.*395C>T) c.942C>T (p.Pro314=) c.*777C>T (n.*777C>T) c.1073C>T (p.Pro358Leu) c.1025C>T (p.Pro342Leu) n.17C>T c.1028C>T (p.Pro343Leu) c.958-256C>T (n.958-256C>T) | |
X | g.154533058G>C | CA415234680 | G6PD | c.935C>G (p.Pro312Arg) c.938C>G (p.Pro313Arg) c.798C>G c.801C>G c.787C>G (n.787C>G) c.865-256C>G (n.865-256C>G) c.*395C>G (n.*395C>G) c.942C>G (p.Pro314=) c.*777C>G (n.*777C>G) c.1073C>G (p.Pro358Arg) c.1025C>G (p.Pro342Arg) n.17C>G c.1028C>G (p.Pro343Arg) c.958-256C>G (n.958-256C>G) | gnomAD v4 |
X | g.154533058G>T | CA415234682 | G6PD | c.935C>A (p.Pro312His) c.938C>A (p.Pro313His) c.798C>A c.801C>A c.787C>A (n.787C>A) c.865-256C>A (n.865-256C>A) c.*395C>A (n.*395C>A) c.942C>A (p.Pro314=) c.*777C>A (n.*777C>A) c.1073C>A (p.Pro358His) c.1025C>A (p.Pro342His) n.17C>A c.1028C>A (p.Pro343His) c.958-256C>A (n.958-256C>A) | |
X | g.154533059G>A | CA415234684 | G6PD | c.934C>T (p.Pro312Ser) c.937C>T (p.Pro313Ser) c.797C>T c.800C>T c.786C>T (n.786C>T) c.865-257C>T (n.865-257C>T) c.*394C>T (n.*394C>T) c.941C>T (p.Pro314Leu) c.*776C>T (n.*776C>T) c.1072C>T (p.Pro358Ser) c.1024C>T (p.Pro342Ser) n.16C>T c.1027C>T (p.Pro343Ser) c.958-257C>T (n.958-257C>T) | COSMIC COSMIC COSMIC |
X | g.154533059G>C | CA415234686 | G6PD | c.934C>G (p.Pro312Ala) c.937C>G (p.Pro313Ala) c.797C>G c.800C>G c.786C>G (n.786C>G) c.865-257C>G (n.865-257C>G) c.*394C>G (n.*394C>G) c.941C>G (p.Pro314Arg) c.*776C>G (n.*776C>G) c.1072C>G (p.Pro358Ala) c.1024C>G (p.Pro342Ala) n.16C>G c.1027C>G (p.Pro343Ala) c.958-257C>G (n.958-257C>G) | |
X | g.154533059G>T | CA415234687 | G6PD | c.934C>A (p.Pro312Thr) c.937C>A (p.Pro313Thr) c.797C>A c.800C>A c.786C>A (n.786C>A) c.865-257C>A (n.865-257C>A) c.*394C>A (n.*394C>A) c.941C>A (p.Pro314His) c.*776C>A (n.*776C>A) c.1072C>A (p.Pro358Thr) c.1024C>A (p.Pro342Thr) n.16C>A c.1027C>A (p.Pro343Thr) c.958-257C>A (n.958-257C>A) | |
X | g.154533060G>A | CA519303606 | G6PD | c.933C>T (p.Asn311=) c.936C>T (p.Asn312=) c.796C>T c.799C>T c.785C>T (n.785C>T) c.865-258C>T (n.865-258C>T) c.*393C>T (n.*393C>T) c.940C>T (p.Pro314Ser) c.*775C>T (n.*775C>T) c.1071C>T (p.Asn357=) c.1023C>T (p.Asn341=) n.15C>T c.1026C>T (p.Asn342=) c.958-258C>T (n.958-258C>T) | |
X | g.154533060G>C | CA415234691 | G6PD | c.933C>G (p.Asn311Lys) c.936C>G (p.Asn312Lys) c.796C>G c.799C>G c.785C>G (n.785C>G) c.865-258C>G (n.865-258C>G) c.*393C>G (n.*393C>G) c.940C>G (p.Pro314Ala) c.*775C>G (n.*775C>G) c.1071C>G (p.Asn357Lys) c.1023C>G (p.Asn341Lys) n.15C>G c.1026C>G (p.Asn342Lys) c.958-258C>G (n.958-258C>G) | |
X | g.154533060G>T | CA415234689 | G6PD | c.933C>A (p.Asn311Lys) c.936C>A (p.Asn312Lys) c.796C>A c.799C>A c.785C>A (n.785C>A) c.865-258C>A (n.865-258C>A) c.*393C>A (n.*393C>A) c.940C>A (p.Pro314Thr) c.*775C>A (n.*775C>A) c.1071C>A (p.Asn357Lys) c.1023C>A (p.Asn341Lys) n.15C>A c.1026C>A (p.Asn342Lys) c.958-258C>A (n.958-258C>A) | |
X | g.154533061T>A | CA415234693 | G6PD | c.932A>T (p.Asn311Ile) c.935A>T (p.Asn312Ile) c.795A>T c.798A>T c.784A>T (n.784A>T) c.865-259A>T (n.865-259A>T) c.*392A>T (n.*392A>T) c.939A>T (p.Glu313Asp) c.*774A>T (n.*774A>T) c.1070A>T (p.Asn357Ile) c.1022A>T (p.Asn341Ile) n.14A>T c.1025A>T (p.Asn342Ile) c.958-259A>T (n.958-259A>T) | dbSNP |
X | g.154533061T>C | CA415234696 | G6PD | c.932A>G (p.Asn311Ser) c.935A>G (p.Asn312Ser) c.795A>G c.798A>G c.784A>G (n.784A>G) c.865-259A>G (n.865-259A>G) c.*392A>G (n.*392A>G) c.939A>G (p.Glu313=) c.*774A>G (n.*774A>G) c.1070A>G (p.Asn357Ser) c.1022A>G (p.Asn341Ser) n.14A>G c.1025A>G (p.Asn342Ser) c.958-259A>G (n.958-259A>G) | |
X | g.154533061T>G | CA415234694 | G6PD | c.932A>C (p.Asn311Thr) c.935A>C (p.Asn312Thr) c.795A>C c.798A>C c.784A>C (n.784A>C) c.865-259A>C (n.865-259A>C) c.*392A>C (n.*392A>C) c.939A>C (p.Glu313Asp) c.*774A>C (n.*774A>C) c.1070A>C (p.Asn357Thr) c.1022A>C (p.Asn341Thr) n.14A>C c.1025A>C (p.Asn342Thr) c.958-259A>C (n.958-259A>C) | |
X | g.154533062T>A | CA415234698 | G6PD | c.931A>T (p.Asn311Tyr) c.934A>T (p.Asn312Tyr) c.794A>T c.797A>T c.783A>T (n.783A>T) c.865-260A>T (n.865-260A>T) c.*391A>T (n.*391A>T) c.938A>T (p.Glu313Val) c.*773A>T (n.*773A>T) c.1069A>T (p.Asn357Tyr) c.1021A>T (p.Asn341Tyr) n.13A>T c.1024A>T (p.Asn342Tyr) c.958-260A>T (n.958-260A>T) | |
X | g.154533062T>C | CA415234705 | G6PD | c.931A>G (p.Asn311Asp) c.934A>G (p.Asn312Asp) c.794A>G c.797A>G c.783A>G (n.783A>G) c.865-260A>G (n.865-260A>G) c.*391A>G (n.*391A>G) c.938A>G (p.Glu313Gly) c.*773A>G (n.*773A>G) c.1069A>G (p.Asn357Asp) c.1021A>G (p.Asn341Asp) n.13A>G c.1024A>G (p.Asn342Asp) c.958-260A>G (n.958-260A>G) | |
X | g.154533062T>G | CA415234700 | G6PD | c.931A>C (p.Asn311His) c.934A>C (p.Asn312His) c.794A>C c.797A>C c.783A>C (n.783A>C) c.865-260A>C (n.865-260A>C) c.*391A>C (n.*391A>C) c.938A>C (p.Glu313Ala) c.*773A>C (n.*773A>C) c.1069A>C (p.Asn357His) c.1021A>C (p.Asn341His) n.13A>C c.1024A>C (p.Asn342His) c.958-260A>C (n.958-260A>C) | |
X | g.154533063C>A | CA519303614 | G6PD | c.930G>T (p.Gly310=) c.933G>T (p.Gly311=) c.793G>T c.796G>T c.782G>T (n.782G>T) c.865-261G>T (n.865-261G>T) c.*390G>T (n.*390G>T) c.937G>T (p.Glu313Ter) c.*772G>T (n.*772G>T) c.1068G>T (p.Gly356=) c.1020G>T (p.Gly340=) n.12G>T c.1023G>T (p.Gly341=) c.958-261G>T (n.958-261G>T) | |
X | g.154533063C= | CA2466723606 | G6PD | c.930G= (p.Gly310=) c.933G= (p.Gly311=) c.793G= c.796G= c.782G= (n.782G=) c.865-261G= (n.865-261G=) c.*390G= (n.*390G=) c.937G= (p.Glu313=) c.*772G= (n.*772G=) c.1068G= (p.Gly356=) c.1020G= (p.Gly340=) n.12G= c.1023G= (p.Gly341=) c.958-261G= (n.958-261G=) | |
X | g.154533063C>G | CA337316699 | G6PD | c.930G>C (p.Gly310=) c.933G>C (p.Gly311=) c.793G>C c.796G>C c.782G>C (n.782G>C) c.865-261G>C (n.865-261G>C) c.*390G>C (n.*390G>C) c.937G>C (p.Glu313Gln) c.*772G>C (n.*772G>C) c.1068G>C (p.Gly356=) c.1020G>C (p.Gly340=) n.12G>C c.1023G>C (p.Gly341=) c.958-261G>C (n.958-261G>C) | dbSNP |
X | g.154533063C>T | CA519303615 | G6PD | c.930G>A (p.Gly310=) c.933G>A (p.Gly311=) c.793G>A c.796G>A c.782G>A (n.782G>A) c.865-261G>A (n.865-261G>A) c.*390G>A (n.*390G>A) c.937G>A (p.Glu313Lys) c.*772G>A (n.*772G>A) c.1068G>A (p.Gly356=) c.1020G>A (p.Gly340=) n.12G>A c.1023G>A (p.Gly341=) c.958-261G>A (n.958-261G>A) | dbSNP |
X | g.154533064C>A | CA415234706 | G6PD | c.929G>T (p.Gly310Val) c.932G>T (p.Gly311Val) c.792G>T c.795G>T c.781G>T (n.781G>T) c.865-262G>T (n.865-262G>T) c.*389G>T (n.*389G>T) c.936G>T (p.Gly312=) c.*771G>T (n.*771G>T) c.1067G>T (p.Gly356Val) c.1019G>T (p.Gly340Val) n.11G>T c.1022G>T (p.Gly341Val) c.958-262G>T (n.958-262G>T) | |
X | g.154533064C= | CA2466723607 | G6PD | c.929G= (p.Gly310=) c.932G= (p.Gly311=) c.792G= c.795G= c.781G= (n.781G=) c.865-262G= (n.865-262G=) c.*389G= (n.*389G=) c.936G= (p.Gly312=) c.*771G= (n.*771G=) c.1067G= (p.Gly356=) c.1019G= (p.Gly340=) n.11G= c.1022G= (p.Gly341=) c.958-262G= (n.958-262G=) | |
X | g.154533064C>G | CA415234708 | G6PD | c.929G>C (p.Gly310Ala) c.932G>C (p.Gly311Ala) c.792G>C c.795G>C c.781G>C (n.781G>C) c.865-262G>C (n.865-262G>C) c.*389G>C (n.*389G>C) c.936G>C (p.Gly312=) c.*771G>C (n.*771G>C) c.1067G>C (p.Gly356Ala) c.1019G>C (p.Gly340Ala) n.11G>C c.1022G>C (p.Gly341Ala) c.958-262G>C (n.958-262G>C) | |
X | g.154533064C>T | CA415234710 | G6PD | c.929G>A (p.Gly310Glu) c.932G>A (p.Gly311Glu) c.792G>A c.795G>A c.781G>A (n.781G>A) c.865-262G>A (n.865-262G>A) c.*389G>A (n.*389G>A) c.936G>A (p.Gly312=) c.*771G>A (n.*771G>A) c.1067G>A (p.Gly356Glu) c.1019G>A (p.Gly340Glu) n.11G>A c.1022G>A (p.Gly341Glu) c.958-262G>A (n.958-262G>A) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154533065C>A | CA415234712 | G6PD | c.928G>T (p.Gly310Trp) c.931G>T (p.Gly311Trp) c.791G>T c.794G>T c.780G>T (n.780G>T) c.865-263G>T (n.865-263G>T) c.*388G>T (n.*388G>T) c.935G>T (p.Gly312Val) c.*770G>T (n.*770G>T) c.1066G>T (p.Gly356Trp) c.1018G>T (p.Gly340Trp) n.10G>T c.1021G>T (p.Gly341Trp) c.958-263G>T (n.958-263G>T) | |
X | g.154533065C= | CA2466723608 | G6PD | c.928G= (p.Gly310=) c.931G= (p.Gly311=) c.791G= c.794G= c.780G= (n.780G=) c.865-263G= (n.865-263G=) c.*388G= (n.*388G=) c.935G= (p.Gly312=) c.*770G= (n.*770G=) c.1066G= (p.Gly356=) c.1018G= (p.Gly340=) n.10G= c.1021G= (p.Gly341=) c.958-263G= (n.958-263G=) | |
X | g.154533065C>G | CA415234714 | G6PD | c.928G>C (p.Gly310Arg) c.931G>C (p.Gly311Arg) c.791G>C c.794G>C c.780G>C (n.780G>C) c.865-263G>C (n.865-263G>C) c.*388G>C (n.*388G>C) c.935G>C (p.Gly312Ala) c.*770G>C (n.*770G>C) c.1066G>C (p.Gly356Arg) c.1018G>C (p.Gly340Arg) n.10G>C c.1021G>C (p.Gly341Arg) c.958-263G>C (n.958-263G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154533065C>T | CA415234716 | G6PD | c.928G>A (p.Gly310Arg) c.931G>A (p.Gly311Arg) c.791G>A c.794G>A c.780G>A (n.780G>A) c.865-263G>A (n.865-263G>A) c.*388G>A (n.*388G>A) c.935G>A (p.Gly312Glu) c.*770G>A (n.*770G>A) c.1066G>A (p.Gly356Arg) c.1018G>A (p.Gly340Arg) n.10G>A c.1021G>A (p.Gly341Arg) c.958-263G>A (n.958-263G>A) | |
X | g.154533066C>A | CA519303624 | G6PD | c.927G>T (p.Val309=) c.930G>T (p.Val310=) c.790G>T c.793G>T c.779G>T (n.779G>T) c.865-264G>T (n.865-264G>T) c.*387G>T (n.*387G>T) c.934G>T (p.Gly312Trp) c.*769G>T (n.*769G>T) c.1065G>T (p.Val355=) c.1017G>T (p.Val339=) n.9G>T c.1020G>T (p.Val340=) c.958-264G>T (n.958-264G>T) | dbSNP |
X | g.154533066C= | CA2466723609 | G6PD | c.927G= (p.Val309=) c.930G= (p.Val310=) c.790G= c.793G= c.779G= (n.779G=) c.865-264G= (n.865-264G=) c.*387G= (n.*387G=) c.934G= (p.Gly312=) c.*769G= (n.*769G=) c.1065G= (p.Val355=) c.1017G= (p.Val339=) n.9G= c.1020G= (p.Val340=) c.958-264G= (n.958-264G=) | |
X | g.154533066C>G | CA519303626 | G6PD | c.927G>C (p.Val309=) c.930G>C (p.Val310=) c.790G>C c.793G>C c.779G>C (n.779G>C) c.865-264G>C (n.865-264G>C) c.*387G>C (n.*387G>C) c.934G>C (p.Gly312Arg) c.*769G>C (n.*769G>C) c.1065G>C (p.Val355=) c.1017G>C (p.Val339=) n.9G>C c.1020G>C (p.Val340=) c.958-264G>C (n.958-264G>C) | |
X | g.154533066C>T | CA519303628 | G6PD | c.927G>A (p.Val309=) c.930G>A (p.Val310=) c.790G>A c.793G>A c.779G>A (n.779G>A) c.865-264G>A (n.865-264G>A) c.*387G>A (n.*387G>A) c.934G>A (p.Gly312Arg) c.*769G>A (n.*769G>A) c.1065G>A (p.Val355=) c.1017G>A (p.Val339=) n.9G>A c.1020G>A (p.Val340=) c.958-264G>A (n.958-264G>A) | |
X | g.154533067A>C | CA415234717 | G6PD | c.926T>G (p.Val309Gly) c.929T>G (p.Val310Gly) c.789T>G c.792T>G c.778T>G (n.778T>G) c.865-265T>G (n.865-265T>G) c.*386T>G (n.*386T>G) c.933T>G (p.Arg311=) c.*768T>G (n.*768T>G) c.1064T>G (p.Val355Gly) c.1016T>G (p.Val339Gly) n.8T>G c.1019T>G (p.Val340Gly) c.958-265T>G (n.958-265T>G) | |
X | g.154533067A>G | CA415234719 | G6PD | c.926T>C (p.Val309Ala) c.929T>C (p.Val310Ala) c.789T>C c.792T>C c.778T>C (n.778T>C) c.865-265T>C (n.865-265T>C) c.*386T>C (n.*386T>C) c.933T>C (p.Arg311=) c.*768T>C (n.*768T>C) c.1064T>C (p.Val355Ala) c.1016T>C (p.Val339Ala) n.8T>C c.1019T>C (p.Val340Ala) c.958-265T>C (n.958-265T>C) | gnomAD v4 |
X | g.154533067A>T | CA415234721 | G6PD | c.926T>A (p.Val309Glu) c.929T>A (p.Val310Glu) c.789T>A c.792T>A c.778T>A (n.778T>A) c.865-265T>A (n.865-265T>A) c.*386T>A (n.*386T>A) c.933T>A (p.Arg311=) c.*768T>A (n.*768T>A) c.1064T>A (p.Val355Glu) c.1016T>A (p.Val339Glu) n.8T>A c.1019T>A (p.Val340Glu) c.958-265T>A (n.958-265T>A) | gnomAD v4 |
X | g.154533068C>A | CA415234723 | G6PD | c.925G>T (p.Val309Leu) c.928G>T (p.Val310Leu) c.788G>T c.791G>T c.777G>T (n.777G>T) c.865-266G>T (n.865-266G>T) c.*385G>T (n.*385G>T) c.932G>T (p.Arg311Leu) c.*767G>T (n.*767G>T) c.1063G>T (p.Val355Leu) c.1015G>T (p.Val339Leu) n.7G>T c.1018G>T (p.Val340Leu) c.958-266G>T (n.958-266G>T) | |
X | g.154533068C>G | CA415234725 | G6PD | c.925G>C (p.Val309Leu) c.928G>C (p.Val310Leu) c.788G>C c.791G>C c.777G>C (n.777G>C) c.865-266G>C (n.865-266G>C) c.*385G>C (n.*385G>C) c.932G>C (p.Arg311Pro) c.*767G>C (n.*767G>C) c.1063G>C (p.Val355Leu) c.1015G>C (p.Val339Leu) n.7G>C c.1018G>C (p.Val340Leu) c.958-266G>C (n.958-266G>C) | |
X | g.154533068C>T | CA415234727 | G6PD | c.925G>A (p.Val309Met) c.928G>A (p.Val310Met) c.788G>A c.791G>A c.777G>A (n.777G>A) c.865-266G>A (n.865-266G>A) c.*385G>A (n.*385G>A) c.932G>A (p.Arg311His) c.*767G>A (n.*767G>A) c.1063G>A (p.Val355Met) c.1015G>A (p.Val339Met) n.7G>A c.1018G>A (p.Val340Met) c.958-266G>A (n.958-266G>A) | gnomAD v4 |
X | g.154533069G>A | CA10566110 | G6PD | c.924C>T (p.Tyr308=) c.927C>T (p.Tyr309=) c.787C>T c.790C>T c.776C>T (n.776C>T) c.865-267C>T (n.865-267C>T) c.*384C>T (n.*384C>T) c.931C>T (p.Arg311Cys) c.*766C>T (n.*766C>T) c.1062C>T (p.Tyr354=) c.1014C>T (p.Tyr338=) n.6C>T c.1017C>T (p.Tyr339=) c.958-267C>T (n.958-267C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154533069G>C | CA415234731 | G6PD | c.924C>G (p.Tyr308Ter) c.927C>G (p.Tyr309Ter) c.787C>G c.790C>G c.776C>G (n.776C>G) c.865-267C>G (n.865-267C>G) c.*384C>G (n.*384C>G) c.931C>G (p.Arg311Gly) c.*766C>G (n.*766C>G) c.1062C>G (p.Tyr354Ter) c.1014C>G (p.Tyr338Ter) n.6C>G c.1017C>G (p.Tyr339Ter) c.958-267C>G (n.958-267C>G) | |
X | g.154533069G= | CA2466723610 | G6PD | c.924C= (p.Tyr308=) c.927C= (p.Tyr309=) c.787C= c.790C= c.776C= (n.776C=) c.865-267C= (n.865-267C=) c.*384C= (n.*384C=) c.931C= (p.Arg311=) c.*766C= (n.*766C=) c.1062C= (p.Tyr354=) c.1014C= (p.Tyr338=) n.6C= c.1017C= (p.Tyr339=) c.958-267C= (n.958-267C=) | |
X | g.154533069G>T | CA415234729 | G6PD | c.924C>A (p.Tyr308Ter) c.927C>A (p.Tyr309Ter) c.787C>A c.790C>A c.776C>A (n.776C>A) c.865-267C>A (n.865-267C>A) c.*384C>A (n.*384C>A) c.931C>A (p.Arg311Ser) c.*766C>A (n.*766C>A) c.1062C>A (p.Tyr354Ter) c.1014C>A (p.Tyr338Ter) n.6C>A c.1017C>A (p.Tyr339Ter) c.958-267C>A (n.958-267C>A) | |
X | g.154533070T>A | CA415234733 | G6PD | c.923A>T (p.Tyr308Phe) c.926A>T (p.Tyr309Phe) c.786A>T c.789A>T c.775A>T (n.775A>T) c.865-268A>T (n.865-268A>T) c.*383A>T (n.*383A>T) c.930A>T (p.Val310=) c.*765A>T (n.*765A>T) c.1061A>T (p.Tyr354Phe) c.1013A>T (p.Tyr338Phe) n.5A>T c.1016A>T (p.Tyr339Phe) c.958-268A>T (n.958-268A>T) | |
X | g.154533070T>C | CA415234734 | G6PD | c.923A>G (p.Tyr308Cys) c.926A>G (p.Tyr309Cys) c.786A>G c.789A>G c.775A>G (n.775A>G) c.865-268A>G (n.865-268A>G) c.*383A>G (n.*383A>G) c.930A>G (p.Val310=) c.*765A>G (n.*765A>G) c.1061A>G (p.Tyr354Cys) c.1013A>G (p.Tyr338Cys) n.5A>G c.1016A>G (p.Tyr339Cys) c.958-268A>G (n.958-268A>G) | |
X | g.154533070T>G | CA415234737 | G6PD | c.923A>C (p.Tyr308Ser) c.926A>C (p.Tyr309Ser) c.786A>C c.789A>C c.775A>C (n.775A>C) c.865-268A>C (n.865-268A>C) c.*383A>C (n.*383A>C) c.930A>C (p.Val310=) c.*765A>C (n.*765A>C) c.1061A>C (p.Tyr354Ser) c.1013A>C (p.Tyr338Ser) n.5A>C c.1016A>C (p.Tyr339Ser) c.958-268A>C (n.958-268A>C) | |
X | g.154533071A>C | CA415234739 | G6PD | c.922T>G (p.Tyr308Asp) c.925T>G (p.Tyr309Asp) c.785T>G c.788T>G c.774T>G (n.774T>G) c.865-269T>G (n.865-269T>G) c.*382T>G (n.*382T>G) c.929T>G (p.Val310Gly) c.*764T>G (n.*764T>G) c.1060T>G (p.Tyr354Asp) c.1012T>G (p.Tyr338Asp) n.4T>G c.1015T>G (p.Tyr339Asp) c.958-269T>G (n.958-269T>G) | |
X | g.154533071A>G | CA415234741 | G6PD | c.922T>C (p.Tyr308His) c.925T>C (p.Tyr309His) c.785T>C c.788T>C c.774T>C (n.774T>C) c.865-269T>C (n.865-269T>C) c.*382T>C (n.*382T>C) c.929T>C (p.Val310Ala) c.*764T>C (n.*764T>C) c.1060T>C (p.Tyr354His) c.1012T>C (p.Tyr338His) n.4T>C c.1015T>C (p.Tyr339His) c.958-269T>C (n.958-269T>C) | ClinVar COSMIC COSMIC COSMIC |
X | g.154533071A>T | CA415234743 | G6PD | c.922T>A (p.Tyr308Asn) c.925T>A (p.Tyr309Asn) c.785T>A c.788T>A c.774T>A (n.774T>A) c.865-269T>A (n.865-269T>A) c.*382T>A (n.*382T>A) c.929T>A (p.Val310Glu) c.*764T>A (n.*764T>A) c.1060T>A (p.Tyr354Asn) c.1012T>A (p.Tyr338Asn) n.4T>A c.1015T>A (p.Tyr339Asn) c.958-269T>A (n.958-269T>A) | |
X | g.154533072C>A | CA415234745 | G6PD | c.921G>T (p.Gln307His) c.924G>T (p.Gln308His) c.784G>T c.787G>T c.773G>T (n.773G>T) c.865-270G>T (n.865-270G>T) c.*381G>T (n.*381G>T) c.928G>T (p.Val310Leu) c.*763G>T (n.*763G>T) c.1059G>T (p.Gln353His) c.1011G>T (p.Gln337His) n.3G>T c.1014G>T (p.Gln338His) c.958-270G>T (n.958-270G>T) | |
X | g.154533072C= | CA2740130045 | G6PD | c.921G= (p.Gln307=) c.924G= (p.Gln308=) c.784G= c.787G= c.773G= (n.773G=) c.865-270G= (n.865-270G=) c.*381G= (n.*381G=) c.928G= (p.Val310=) c.*763G= (n.*763G=) c.1059G= (p.Gln353=) c.1011G= (p.Gln337=) n.3G= c.1014G= (p.Gln338=) c.958-270G= (n.958-270G=) | |
X | g.154533072C>G | CA415234747 | G6PD | c.921G>C (p.Gln307His) c.924G>C (p.Gln308His) c.784G>C c.787G>C c.773G>C (n.773G>C) c.865-270G>C (n.865-270G>C) c.*381G>C (n.*381G>C) c.928G>C (p.Val310Leu) c.*763G>C (n.*763G>C) c.1059G>C (p.Gln353His) c.1011G>C (p.Gln337His) n.3G>C c.1014G>C (p.Gln338His) c.958-270G>C (n.958-270G>C) | ClinVar |
X | g.154533072C>T | CA519303642 | G6PD | c.921G>A (p.Gln307=) c.924G>A (p.Gln308=) c.784G>A c.787G>A c.773G>A (n.773G>A) c.865-270G>A (n.865-270G>A) c.*381G>A (n.*381G>A) c.928G>A (p.Val310Ile) c.*763G>A (n.*763G>A) c.1059G>A (p.Gln353=) c.1011G>A (p.Gln337=) n.3G>A c.1014G>A (p.Gln338=) c.958-270G>A (n.958-270G>A) | |
X | g.154533073T>A | CA415234752 | G6PD | c.920A>T (p.Gln307Leu) c.923A>T (p.Gln308Leu) c.783A>T c.786A>T c.772A>T (n.772A>T) c.865-271A>T (n.865-271A>T) c.*380A>T (n.*380A>T) c.927A>T (p.Pro309=) c.*762A>T (n.*762A>T) c.1058A>T (p.Gln353Leu) c.1010A>T (p.Gln337Leu) n.2A>T c.1013A>T (p.Gln338Leu) c.958-271A>T (n.958-271A>T) | |
X | g.154533073T>C | CA415234750 | G6PD | c.920A>G (p.Gln307Arg) c.923A>G (p.Gln308Arg) c.783A>G c.786A>G c.772A>G (n.772A>G) c.865-271A>G (n.865-271A>G) c.*380A>G (n.*380A>G) c.927A>G (p.Pro309=) c.*762A>G (n.*762A>G) c.1058A>G (p.Gln353Arg) c.1010A>G (p.Gln337Arg) n.2A>G c.1013A>G (p.Gln338Arg) c.958-271A>G (n.958-271A>G) | |
X | g.154533073T>G | CA415234749 | G6PD | c.920A>C (p.Gln307Pro) c.923A>C (p.Gln308Pro) c.783A>C c.786A>C c.772A>C (n.772A>C) c.865-271A>C (n.865-271A>C) c.*380A>C (n.*380A>C) c.927A>C (p.Pro309=) c.*762A>C (n.*762A>C) c.1058A>C (p.Gln353Pro) c.1010A>C (p.Gln337Pro) n.2A>C c.1013A>C (p.Gln338Pro) c.958-271A>C (n.958-271A>C) | ClinVar |
X | g.154533074G>A | CA415234754 | G6PD | c.919C>T (p.Gln307Ter) c.922C>T (p.Gln308Ter) c.782C>T c.785C>T c.771C>T (n.771C>T) c.865-272C>T (n.865-272C>T) c.*379C>T (n.*379C>T) c.926C>T (p.Pro309Leu) c.*761C>T (n.*761C>T) c.1057C>T (p.Gln353Ter) c.1009C>T (p.Gln337Ter) n.1C>T c.1012C>T (p.Gln338Ter) c.958-272C>T (n.958-272C>T) | |
X | g.154533074G>C | CA415234756 | G6PD | c.919C>G (p.Gln307Glu) c.922C>G (p.Gln308Glu) c.782C>G c.785C>G c.771C>G (n.771C>G) c.865-272C>G (n.865-272C>G) c.*379C>G (n.*379C>G) c.926C>G (p.Pro309Arg) c.*761C>G (n.*761C>G) c.1057C>G (p.Gln353Glu) c.1009C>G (p.Gln337Glu) n.1C>G c.1012C>G (p.Gln338Glu) c.958-272C>G (n.958-272C>G) | |
X | g.154533074G>T | CA415234758 | G6PD | c.919C>A (p.Gln307Lys) c.922C>A (p.Gln308Lys) c.782C>A c.785C>A c.771C>A (n.771C>A) c.865-272C>A (n.865-272C>A) c.*379C>A (n.*379C>A) c.926C>A (p.Pro309Gln) c.*761C>A (n.*761C>A) c.1057C>A (p.Gln353Lys) c.1009C>A (p.Gln337Lys) n.1C>A c.1012C>A (p.Gln338Lys) c.958-272C>A (n.958-272C>A) | |
X | g.154533075G>A | CA519303650 | G6PD | c.918C>T (p.Gly306=) c.921C>T (p.Gly307=) c.781C>T c.784C>T c.770C>T (n.770C>T) c.865-273C>T (n.865-273C>T) c.*378C>T (n.*378C>T) c.925C>T (p.Pro309Ser) c.*760C>T (n.*760C>T) c.1056C>T (p.Gly352=) c.1008C>T (p.Gly336=) c.1011C>T (p.Gly337=) c.958-273C>T (n.958-273C>T) | |
X | g.154533075G>C | CA519303652 | G6PD | c.918C>G (p.Gly306=) c.921C>G (p.Gly307=) c.781C>G c.784C>G c.770C>G (n.770C>G) c.865-273C>G (n.865-273C>G) c.*378C>G (n.*378C>G) c.925C>G (p.Pro309Ala) c.*760C>G (n.*760C>G) c.1056C>G (p.Gly352=) c.1008C>G (p.Gly336=) c.1011C>G (p.Gly337=) c.958-273C>G (n.958-273C>G) | |
X | g.154533075G>T | CA519303653 | G6PD | c.918C>A (p.Gly306=) c.921C>A (p.Gly307=) c.781C>A c.784C>A c.770C>A (n.770C>A) c.865-273C>A (n.865-273C>A) c.*378C>A (n.*378C>A) c.925C>A (p.Pro309Thr) c.*760C>A (n.*760C>A) c.1056C>A (p.Gly352=) c.1008C>A (p.Gly336=) c.1011C>A (p.Gly337=) c.958-273C>A (n.958-273C>A) | |
X | g.154533076C>A | CA415234761 | G6PD | c.917G>T (p.Gly306Val) c.920G>T (p.Gly307Val) c.780G>T c.783G>T c.769G>T (n.769G>T) c.865-274G>T (n.865-274G>T) c.*377G>T (n.*377G>T) c.924G>T (p.Gly308=) c.*759G>T (n.*759G>T) c.1055G>T (p.Gly352Val) c.1007G>T (p.Gly336Val) c.1010G>T (p.Gly337Val) c.958-274G>T (n.958-274G>T) | |
X | g.154533076C>G | CA415234763 | G6PD | c.917G>C (p.Gly306Ala) c.920G>C (p.Gly307Ala) c.780G>C c.783G>C c.769G>C (n.769G>C) c.865-274G>C (n.865-274G>C) c.*377G>C (n.*377G>C) c.924G>C (p.Gly308=) c.*759G>C (n.*759G>C) c.1055G>C (p.Gly352Ala) c.1007G>C (p.Gly336Ala) c.1010G>C (p.Gly337Ala) c.958-274G>C (n.958-274G>C) | |
X | g.154533076C>T | CA415234765 | G6PD | c.917G>A (p.Gly306Asp) c.920G>A (p.Gly307Asp) c.780G>A c.783G>A c.769G>A (n.769G>A) c.865-274G>A (n.865-274G>A) c.*377G>A (n.*377G>A) c.924G>A (p.Gly308=) c.*759G>A (n.*759G>A) c.1055G>A (p.Gly352Asp) c.1007G>A (p.Gly336Asp) c.1010G>A (p.Gly337Asp) c.958-274G>A (n.958-274G>A) | |
X | g.154533077C>A | CA415234767 | G6PD | c.916G>T (p.Gly306Cys) c.919G>T (p.Gly307Cys) c.779G>T c.782G>T c.768G>T (n.768G>T) c.865-275G>T (n.865-275G>T) c.*376G>T (n.*376G>T) c.923G>T (p.Gly308Val) c.*758G>T (n.*758G>T) c.1054G>T (p.Gly352Cys) c.1006G>T (p.Gly336Cys) c.1009G>T (p.Gly337Cys) c.958-275G>T (n.958-275G>T) | |
X | g.154533077C= | CA2740130046 | G6PD | c.916G= (p.Gly306=) c.919G= (p.Gly307=) c.779G= c.782G= c.768G= (n.768G=) c.865-275G= (n.865-275G=) c.*376G= (n.*376G=) c.923G= (p.Gly308=) c.*758G= (n.*758G=) c.1054G= (p.Gly352=) c.1006G= (p.Gly336=) c.1009G= (p.Gly337=) c.958-275G= (n.958-275G=) | |
X | g.154533077C>G | CA415234769 | G6PD | c.916G>C (p.Gly306Arg) c.919G>C (p.Gly307Arg) c.779G>C c.782G>C c.768G>C (n.768G>C) c.865-275G>C (n.865-275G>C) c.*376G>C (n.*376G>C) c.923G>C (p.Gly308Ala) c.*758G>C (n.*758G>C) c.1054G>C (p.Gly352Arg) c.1006G>C (p.Gly336Arg) c.1009G>C (p.Gly337Arg) c.958-275G>C (n.958-275G>C) | |
X | g.154533077C>T | CA415234771 | G6PD | c.916G>A (p.Gly306Ser) c.919G>A (p.Gly307Ser) c.779G>A c.782G>A c.768G>A (n.768G>A) c.865-275G>A (n.865-275G>A) c.*376G>A (n.*376G>A) c.923G>A (p.Gly308Glu) c.*758G>A (n.*758G>A) c.1054G>A (p.Gly352Ser) c.1006G>A (p.Gly336Ser) c.1009G>A (p.Gly337Ser) c.958-275G>A (n.958-275G>A) | ClinVar |
X | g.154533078C>A | CA519303661 | G6PD | c.915G>T (p.Leu305=) c.918G>T (p.Leu306=) c.778G>T c.781G>T c.767G>T (n.767G>T) c.865-276G>T (n.865-276G>T) c.*375G>T (n.*375G>T) c.922G>T (p.Gly308Trp) c.*757G>T (n.*757G>T) c.1053G>T (p.Leu351=) c.1005G>T (p.Leu335=) c.1008G>T (p.Leu336=) c.958-276G>T (n.958-276G>T) | |
X | g.154533078C= | CA2466723611 | G6PD | c.915G= (p.Leu305=) c.918G= (p.Leu306=) c.778G= c.781G= c.767G= (n.767G=) c.865-276G= (n.865-276G=) c.*375G= (n.*375G=) c.922G= (p.Gly308=) c.*757G= (n.*757G=) c.1053G= (p.Leu351=) c.1005G= (p.Leu335=) c.1008G= (p.Leu336=) c.958-276G= (n.958-276G=) | |
X | g.154533078C>G | CA519303665 | G6PD | c.915G>C (p.Leu305=) c.918G>C (p.Leu306=) c.778G>C c.781G>C c.767G>C (n.767G>C) c.865-276G>C (n.865-276G>C) c.*375G>C (n.*375G>C) c.922G>C (p.Gly308Arg) c.*757G>C (n.*757G>C) c.1053G>C (p.Leu351=) c.1005G>C (p.Leu335=) c.1008G>C (p.Leu336=) c.958-276G>C (n.958-276G>C) | |
X | g.154533078C>T | CA519303663 | G6PD | c.915G>A (p.Leu305=) c.918G>A (p.Leu306=) c.778G>A c.781G>A c.767G>A (n.767G>A) c.865-276G>A (n.865-276G>A) c.*375G>A (n.*375G>A) c.922G>A (p.Gly308Arg) c.*757G>A (n.*757G>A) c.1053G>A (p.Leu351=) c.1005G>A (p.Leu335=) c.1008G>A (p.Leu336=) c.958-276G>A (n.958-276G>A) | ClinVar dbSNP gnomAD v4 |
X | g.154533079A>C | CA415234773 | G6PD | c.914T>G (p.Leu305Arg) c.917T>G (p.Leu306Arg) c.777T>G c.780T>G c.766T>G (n.766T>G) c.865-277T>G (n.865-277T>G) c.*374T>G (n.*374T>G) c.921T>G (p.Pro307=) c.*756T>G (n.*756T>G) c.1052T>G (p.Leu351Arg) c.1004T>G (p.Leu335Arg) c.1007T>G (p.Leu336Arg) c.958-277T>G (n.958-277T>G) | |
X | g.154533079A>G | CA415234775 | G6PD | c.914T>C (p.Leu305Pro) c.917T>C (p.Leu306Pro) c.777T>C c.780T>C c.766T>C (n.766T>C) c.865-277T>C (n.865-277T>C) c.*374T>C (n.*374T>C) c.921T>C (p.Pro307=) c.*756T>C (n.*756T>C) c.1052T>C (p.Leu351Pro) c.1004T>C (p.Leu335Pro) c.1007T>C (p.Leu336Pro) c.958-277T>C (n.958-277T>C) | |
X | g.154533079A>T | CA415234777 | G6PD | c.914T>A (p.Leu305Gln) c.917T>A (p.Leu306Gln) c.777T>A c.780T>A c.766T>A (n.766T>A) c.865-277T>A (n.865-277T>A) c.*374T>A (n.*374T>A) c.921T>A (p.Pro307=) c.*756T>A (n.*756T>A) c.1052T>A (p.Leu351Gln) c.1004T>A (p.Leu335Gln) c.1007T>A (p.Leu336Gln) c.958-277T>A (n.958-277T>A) | |
X | g.154533080G>A | CA519303669 | G6PD | c.913C>T (p.Leu305=) c.916C>T (p.Leu306=) c.776C>T c.779C>T c.765C>T (n.765C>T) c.865-278C>T (n.865-278C>T) c.*373C>T (n.*373C>T) c.920C>T (p.Pro307Leu) c.*755C>T (n.*755C>T) c.1051C>T (p.Leu351=) c.1003C>T (p.Leu335=) c.1006C>T (p.Leu336=) c.958-278C>T (n.958-278C>T) | |
X | g.154533080G>C | CA415234781 | G6PD | c.913C>G (p.Leu305Val) c.916C>G (p.Leu306Val) c.776C>G c.779C>G c.765C>G (n.765C>G) c.865-278C>G (n.865-278C>G) c.*373C>G (n.*373C>G) c.920C>G (p.Pro307Arg) c.*755C>G (n.*755C>G) c.1051C>G (p.Leu351Val) c.1003C>G (p.Leu335Val) c.1006C>G (p.Leu336Val) c.958-278C>G (n.958-278C>G) | |
X | g.154533080G>T | CA415234779 | G6PD | c.913C>A (p.Leu305Met) c.916C>A (p.Leu306Met) c.776C>A c.779C>A c.765C>A (n.765C>A) c.865-278C>A (n.865-278C>A) c.*373C>A (n.*373C>A) c.920C>A (p.Pro307His) c.*755C>A (n.*755C>A) c.1051C>A (p.Leu351Met) c.1003C>A (p.Leu335Met) c.1006C>A (p.Leu336Met) c.958-278C>A (n.958-278C>A) | |
X | g.154533081G>A | CA519303673 | G6PD | c.912C>T (p.Val304=) c.915C>T (p.Val305=) c.775C>T c.778C>T c.764C>T (n.764C>T) c.865-279C>T (n.865-279C>T) c.*372C>T (n.*372C>T) c.919C>T (p.Pro307Ser) c.*754C>T (n.*754C>T) c.1050C>T (p.Val350=) c.1002C>T (p.Val334=) c.1005C>T (p.Val335=) c.958-279C>T (n.958-279C>T) | |
X | g.154533081G>C | CA519303675 | G6PD | c.912C>G (p.Val304=) c.915C>G (p.Val305=) c.775C>G c.778C>G c.764C>G (n.764C>G) c.865-279C>G (n.865-279C>G) c.*372C>G (n.*372C>G) c.919C>G (p.Pro307Ala) c.*754C>G (n.*754C>G) c.1050C>G (p.Val350=) c.1002C>G (p.Val334=) c.1005C>G (p.Val335=) c.958-279C>G (n.958-279C>G) | |
X | g.154533081G= | CA2466723612 | G6PD | c.912C= (p.Val304=) c.915C= (p.Val305=) c.775C= c.778C= c.764C= (n.764C=) c.865-279C= (n.865-279C=) c.*372C= (n.*372C=) c.919C= (p.Pro307=) c.*754C= (n.*754C=) c.1050C= (p.Val350=) c.1002C= (p.Val334=) c.1005C= (p.Val335=) c.958-279C= (n.958-279C=) | |
X | g.154533081G>T | CA519303677 | G6PD | c.912C>A (p.Val304=) c.915C>A (p.Val305=) c.775C>A c.778C>A c.764C>A (n.764C>A) c.865-279C>A (n.865-279C>A) c.*372C>A (n.*372C>A) c.919C>A (p.Pro307Thr) c.*754C>A (n.*754C>A) c.1050C>A (p.Val350=) c.1002C>A (p.Val334=) c.1005C>A (p.Val335=) c.958-279C>A (n.958-279C>A) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154533082A>C | CA415234783 | G6PD | c.911T>G (p.Val304Gly) c.914T>G (p.Val305Gly) c.774T>G c.777T>G c.763T>G (n.763T>G) c.865-280T>G (n.865-280T>G) c.*371T>G (n.*371T>G) c.918T>G (p.Gly306=) c.*753T>G (n.*753T>G) c.1049T>G (p.Val350Gly) c.1001T>G (p.Val334Gly) c.1004T>G (p.Val335Gly) c.958-280T>G (n.958-280T>G) | |
X | g.154533082A>G | CA415234784 | G6PD | c.911T>C (p.Val304Ala) c.914T>C (p.Val305Ala) c.774T>C c.777T>C c.763T>C (n.763T>C) c.865-280T>C (n.865-280T>C) c.*371T>C (n.*371T>C) c.918T>C (p.Gly306=) c.*753T>C (n.*753T>C) c.1049T>C (p.Val350Ala) c.1001T>C (p.Val334Ala) c.1004T>C (p.Val335Ala) c.958-280T>C (n.958-280T>C) | |
X | g.154533082A>T | CA415234785 | G6PD | c.911T>A (p.Val304Asp) c.914T>A (p.Val305Asp) c.774T>A c.777T>A c.763T>A (n.763T>A) c.865-280T>A (n.865-280T>A) c.*371T>A (n.*371T>A) c.918T>A (p.Gly306=) c.*753T>A (n.*753T>A) c.1049T>A (p.Val350Asp) c.1001T>A (p.Val334Asp) c.1004T>A (p.Val335Asp) c.958-280T>A (n.958-280T>A) | |
X | g.154533084_154533086del | CA2580101802 | G6PD | c.909_911del (p.Val304del) c.912_914del (p.Val305del) c.772_774del c.775_777del c.761_763del (n.761_763del) c.865-282_865-280del (n.865-282_865-280del) c.*369_*371del (n.*369_*371del) c.916_918del (p.Gly306del) c.*751_*753del (n.*751_*753del) c.1047_1049del (p.Val350del) c.999_1001del (p.Val334del) c.1002_1004del (p.Val335del) c.958-282_958-280del (n.958-282_958-280del) | ClinVar |
X | g.154533083C>A | CA415234787 | G6PD | c.910G>T (p.Val304Phe) c.913G>T (p.Val305Phe) c.773G>T c.776G>T c.762G>T (n.762G>T) c.865-281G>T (n.865-281G>T) c.*370G>T (n.*370G>T) c.917G>T (p.Gly306Val) c.*752G>T (n.*752G>T) c.1048G>T (p.Val350Phe) c.1000G>T (p.Val334Phe) c.1003G>T (p.Val335Phe) c.958-281G>T (n.958-281G>T) | ClinVar |
X | g.154533083C= | CA2740130047 | G6PD | c.910G= (p.Val304=) c.913G= (p.Val305=) c.773G= c.776G= c.762G= (n.762G=) c.865-281G= (n.865-281G=) c.*370G= (n.*370G=) c.917G= (p.Gly306=) c.*752G= (n.*752G=) c.1048G= (p.Val350=) c.1000G= (p.Val334=) c.1003G= (p.Val335=) c.958-281G= (n.958-281G=) | |
X | g.154533083C>G | CA415234789 | G6PD | c.910G>C (p.Val304Leu) c.913G>C (p.Val305Leu) c.773G>C c.776G>C c.762G>C (n.762G>C) c.865-281G>C (n.865-281G>C) c.*370G>C (n.*370G>C) c.917G>C (p.Gly306Ala) c.*752G>C (n.*752G>C) c.1048G>C (p.Val350Leu) c.1000G>C (p.Val334Leu) c.1003G>C (p.Val335Leu) c.958-281G>C (n.958-281G>C) | |
X | g.154533083C>T | CA415234791 | G6PD | c.910G>A (p.Val304Ile) c.913G>A (p.Val305Ile) c.773G>A c.776G>A c.762G>A (n.762G>A) c.865-281G>A (n.865-281G>A) c.*370G>A (n.*370G>A) c.917G>A (p.Gly306Asp) c.*752G>A (n.*752G>A) c.1048G>A (p.Val350Ile) c.1000G>A (p.Val334Ile) c.1003G>A (p.Val335Ile) c.958-281G>A (n.958-281G>A) | |
X | g.154533084C>A | CA519303682 | G6PD | c.909G>T (p.Val303=) c.912G>T (p.Val304=) c.772G>T c.775G>T c.761G>T (n.761G>T) c.865-282G>T (n.865-282G>T) c.*369G>T (n.*369G>T) c.916G>T (p.Gly306Cys) c.*751G>T (n.*751G>T) c.1047G>T (p.Val349=) c.999G>T (p.Val333=) c.1002G>T (p.Val334=) c.958-282G>T (n.958-282G>T) | |
X | g.154533084C>G | CA519303685 | G6PD | c.909G>C (p.Val303=) c.912G>C (p.Val304=) c.772G>C c.775G>C c.761G>C (n.761G>C) c.865-282G>C (n.865-282G>C) c.*369G>C (n.*369G>C) c.916G>C (p.Gly306Arg) c.*751G>C (n.*751G>C) c.1047G>C (p.Val349=) c.999G>C (p.Val333=) c.1002G>C (p.Val334=) c.958-282G>C (n.958-282G>C) | |
X | g.154533084C>T | CA519303684 | G6PD | c.909G>A (p.Val303=) c.912G>A (p.Val304=) c.772G>A c.775G>A c.761G>A (n.761G>A) c.865-282G>A (n.865-282G>A) c.*369G>A (n.*369G>A) c.916G>A (p.Gly306Ser) c.*751G>A (n.*751G>A) c.1047G>A (p.Val349=) c.999G>A (p.Val333=) c.1002G>A (p.Val334=) c.958-282G>A (n.958-282G>A) | ClinVar gnomAD v4 |
X | g.154533085A>C | CA415234792 | G6PD | c.908T>G (p.Val303Gly) c.911T>G (p.Val304Gly) c.771T>G c.774T>G c.760T>G (n.760T>G) c.865-283T>G (n.865-283T>G) c.*368T>G (n.*368T>G) c.915T>G (p.Cys305Trp) c.*750T>G (n.*750T>G) c.1046T>G (p.Val349Gly) c.998T>G (p.Val333Gly) c.1001T>G (p.Val334Gly) c.958-283T>G (n.958-283T>G) | |
X | g.154533085A>G | CA415234794 | G6PD | c.908T>C (p.Val303Ala) c.911T>C (p.Val304Ala) c.771T>C c.774T>C c.760T>C (n.760T>C) c.865-283T>C (n.865-283T>C) c.*368T>C (n.*368T>C) c.915T>C (p.Cys305=) c.*750T>C (n.*750T>C) c.1046T>C (p.Val349Ala) c.998T>C (p.Val333Ala) c.1001T>C (p.Val334Ala) c.958-283T>C (n.958-283T>C) | |
X | g.154533085A>T | CA415234796 | G6PD | c.908T>A (p.Val303Glu) c.911T>A (p.Val304Glu) c.771T>A c.774T>A c.760T>A (n.760T>A) c.865-283T>A (n.865-283T>A) c.*368T>A (n.*368T>A) c.915T>A (p.Cys305Ter) c.*750T>A (n.*750T>A) c.1046T>A (p.Val349Glu) c.998T>A (p.Val333Glu) c.1001T>A (p.Val334Glu) c.958-283T>A (n.958-283T>A) | |
X | g.154533086C>A | CA415234798 | G6PD | c.907G>T (p.Val303Leu) c.910G>T (p.Val304Leu) c.770G>T c.773G>T c.759G>T (n.759G>T) c.865-284G>T (n.865-284G>T) c.*367G>T (n.*367G>T) c.914G>T (p.Cys305Phe) c.*749G>T (n.*749G>T) c.1045G>T (p.Val349Leu) c.997G>T (p.Val333Leu) c.1000G>T (p.Val334Leu) c.958-284G>T (n.958-284G>T) | |
X | g.154533086C>G | CA415234800 | G6PD | c.907G>C (p.Val303Leu) c.910G>C (p.Val304Leu) c.770G>C c.773G>C c.759G>C (n.759G>C) c.865-284G>C (n.865-284G>C) c.*367G>C (n.*367G>C) c.914G>C (p.Cys305Ser) c.*749G>C (n.*749G>C) c.1045G>C (p.Val349Leu) c.997G>C (p.Val333Leu) c.1000G>C (p.Val334Leu) c.958-284G>C (n.958-284G>C) | |
X | g.154533086C>T | CA415234802 | G6PD | c.907G>A (p.Val303Met) c.910G>A (p.Val304Met) c.770G>A c.773G>A c.759G>A (n.759G>A) c.865-284G>A (n.865-284G>A) c.*367G>A (n.*367G>A) c.914G>A (p.Cys305Tyr) c.*749G>A (n.*749G>A) c.1045G>A (p.Val349Met) c.997G>A (p.Val333Met) c.1000G>A (p.Val334Met) c.958-284G>A (n.958-284G>A) | |
X | g.154533087A>C | CA415234806 | G6PD | c.906T>G (p.Asn302Lys) c.909T>G (p.Asn303Lys) c.769T>G c.772T>G c.758T>G (n.758T>G) c.865-285T>G (n.865-285T>G) c.*366T>G (n.*366T>G) c.913T>G (p.Cys305Gly) c.*748T>G (n.*748T>G) c.1044T>G (p.Asn348Lys) c.996T>G (p.Asn332Lys) c.999T>G (p.Asn333Lys) c.958-285T>G (n.958-285T>G) | |
X | g.154533087A>G | CA519303690 | G6PD | c.906T>C (p.Asn302=) c.909T>C (p.Asn303=) c.769T>C c.772T>C c.758T>C (n.758T>C) c.865-285T>C (n.865-285T>C) c.*366T>C (n.*366T>C) c.913T>C (p.Cys305Arg) c.*748T>C (n.*748T>C) c.1044T>C (p.Asn348=) c.996T>C (p.Asn332=) c.999T>C (p.Asn333=) c.958-285T>C (n.958-285T>C) | |
X | g.154533087A>T | CA415234804 | G6PD | c.906T>A (p.Asn302Lys) c.909T>A (p.Asn303Lys) c.769T>A c.772T>A c.758T>A (n.758T>A) c.865-285T>A (n.865-285T>A) c.*366T>A (n.*366T>A) c.913T>A (p.Cys305Ser) c.*748T>A (n.*748T>A) c.1044T>A (p.Asn348Lys) c.996T>A (p.Asn332Lys) c.999T>A (p.Asn333Lys) c.958-285T>A (n.958-285T>A) | |
X | g.154533088T>A | CA415234808 | G6PD | c.905A>T (p.Asn302Ile) c.908A>T (p.Asn303Ile) c.768A>T c.771A>T c.757A>T (n.757A>T) c.865-286A>T (n.865-286A>T) c.*365A>T (n.*365A>T) c.912A>T (p.Gln304His) c.*747A>T (n.*747A>T) c.1043A>T (p.Asn348Ile) c.995A>T (p.Asn332Ile) c.998A>T (p.Asn333Ile) c.958-286A>T (n.958-286A>T) | |
X | g.154533088T>C | CA415234810 | G6PD | c.905A>G (p.Asn302Ser) c.908A>G (p.Asn303Ser) c.768A>G c.771A>G c.757A>G (n.757A>G) c.865-286A>G (n.865-286A>G) c.*365A>G (n.*365A>G) c.912A>G (p.Gln304=) c.*747A>G (n.*747A>G) c.1043A>G (p.Asn348Ser) c.995A>G (p.Asn332Ser) c.998A>G (p.Asn333Ser) c.958-286A>G (n.958-286A>G) | gnomAD v4 |
X | g.154533088T>G | CA415234811 | G6PD | c.905A>C (p.Asn302Thr) c.908A>C (p.Asn303Thr) c.768A>C c.771A>C c.757A>C (n.757A>C) c.865-286A>C (n.865-286A>C) c.*365A>C (n.*365A>C) c.912A>C (p.Gln304His) c.*747A>C (n.*747A>C) c.1043A>C (p.Asn348Thr) c.995A>C (p.Asn332Thr) c.998A>C (p.Asn333Thr) c.958-286A>C (n.958-286A>C) | |
X | g.154533089T>A | CA415234813 | G6PD | c.904A>T (p.Asn302Tyr) c.907A>T (p.Asn303Tyr) c.767A>T c.770A>T c.756A>T (n.756A>T) c.865-287A>T (n.865-287A>T) c.*364A>T (n.*364A>T) c.911A>T (p.Gln304Leu) c.*746A>T (n.*746A>T) c.1042A>T (p.Asn348Tyr) c.994A>T (p.Asn332Tyr) c.997A>T (p.Asn333Tyr) c.958-287A>T (n.958-287A>T) | |
X | g.154533089T>C | CA415234814 | G6PD | c.904A>G (p.Asn302Asp) c.907A>G (p.Asn303Asp) c.767A>G c.770A>G c.756A>G (n.756A>G) c.865-287A>G (n.865-287A>G) c.*364A>G (n.*364A>G) c.911A>G (p.Gln304Arg) c.*746A>G (n.*746A>G) c.1042A>G (p.Asn348Asp) c.994A>G (p.Asn332Asp) c.997A>G (p.Asn333Asp) c.958-287A>G (n.958-287A>G) | gnomAD v4 |
X | g.154533089T>G | CA415234816 | G6PD | c.904A>C (p.Asn302His) c.907A>C (p.Asn303His) c.767A>C c.770A>C c.756A>C (n.756A>C) c.865-287A>C (n.865-287A>C) c.*364A>C (n.*364A>C) c.911A>C (p.Gln304Pro) c.*746A>C (n.*746A>C) c.1042A>C (p.Asn348His) c.994A>C (p.Asn332His) c.997A>C (p.Asn333His) c.958-287A>C (n.958-287A>C) | |
X | g.154533090G>A | CA519303698 | G6PD | c.903C>T (p.Asn301=) c.906C>T (p.Asn302=) c.766C>T c.769C>T c.755C>T (n.755C>T) c.865-288C>T (n.865-288C>T) c.*363C>T (n.*363C>T) c.910C>T (p.Gln304Ter) c.*745C>T (n.*745C>T) c.1041C>T (p.Asn347=) c.993C>T (p.Asn331=) c.996C>T (p.Asn332=) c.958-288C>T (n.958-288C>T) | |
X | g.154533090G>C | CA415234818 | G6PD | c.903C>G (p.Asn301Lys) c.906C>G (p.Asn302Lys) c.766C>G c.769C>G c.755C>G (n.755C>G) c.865-288C>G (n.865-288C>G) c.*363C>G (n.*363C>G) c.910C>G (p.Gln304Glu) c.*745C>G (n.*745C>G) c.1041C>G (p.Asn347Lys) c.993C>G (p.Asn331Lys) c.996C>G (p.Asn332Lys) c.958-288C>G (n.958-288C>G) | |
X | g.154533090G= | CA2466723613 | G6PD | c.903C= (p.Asn301=) c.906C= (p.Asn302=) c.766C= c.769C= c.755C= (n.755C=) c.865-288C= (n.865-288C=) c.*363C= (n.*363C=) c.910C= (p.Gln304=) c.*745C= (n.*745C=) c.1041C= (p.Asn347=) c.993C= (p.Asn331=) c.996C= (p.Asn332=) c.958-288C= (n.958-288C=) | |
X | g.154533090G>T | CA10566111 | G6PD | c.903C>A (p.Asn301Lys) c.906C>A (p.Asn302Lys) c.766C>A c.769C>A c.755C>A (n.755C>A) c.865-288C>A (n.865-288C>A) c.*363C>A (n.*363C>A) c.910C>A (p.Gln304Lys) c.*745C>A (n.*745C>A) c.1041C>A (p.Asn347Lys) c.993C>A (p.Asn331Lys) c.996C>A (p.Asn332Lys) c.958-288C>A (n.958-288C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154533091T>A | CA415234820 | G6PD | c.902A>T (p.Asn301Ile) c.905A>T (p.Asn302Ile) c.765A>T c.768A>T c.754A>T (n.754A>T) c.865-289A>T (n.865-289A>T) c.*362A>T (n.*362A>T) c.909A>T (p.Gln303His) c.*744A>T (n.*744A>T) c.1040A>T (p.Asn347Ile) c.992A>T (p.Asn331Ile) c.995A>T (p.Asn332Ile) c.958-289A>T (n.958-289A>T) | |
X | g.154533091T>C | CA415234822 | G6PD | c.902A>G (p.Asn301Ser) c.905A>G (p.Asn302Ser) c.765A>G c.768A>G c.754A>G (n.754A>G) c.865-289A>G (n.865-289A>G) c.*362A>G (n.*362A>G) c.909A>G (p.Gln303=) c.*744A>G (n.*744A>G) c.1040A>G (p.Asn347Ser) c.992A>G (p.Asn331Ser) c.995A>G (p.Asn332Ser) c.958-289A>G (n.958-289A>G) | |
X | g.154533091T>G | CA415234824 | G6PD | c.902A>C (p.Asn301Thr) c.905A>C (p.Asn302Thr) c.765A>C c.768A>C c.754A>C (n.754A>C) c.865-289A>C (n.865-289A>C) c.*362A>C (n.*362A>C) c.909A>C (p.Gln303His) c.*744A>C (n.*744A>C) c.1040A>C (p.Asn347Thr) c.992A>C (p.Asn331Thr) c.995A>C (p.Asn332Thr) c.958-289A>C (n.958-289A>C) | |
X | g.154533092T>A | CA415234826 | G6PD | c.901A>T (p.Asn301Tyr) c.904A>T (p.Asn302Tyr) c.764A>T c.767A>T c.753A>T (n.753A>T) c.865-290A>T (n.865-290A>T) c.*361A>T (n.*361A>T) c.908A>T (p.Gln303Leu) c.*743A>T (n.*743A>T) c.1039A>T (p.Asn347Tyr) c.991A>T (p.Asn331Tyr) c.994A>T (p.Asn332Tyr) c.958-290A>T (n.958-290A>T) | |
X | g.154533092T>C | CA415234827 | G6PD | c.901A>G (p.Asn301Asp) c.904A>G (p.Asn302Asp) c.764A>G c.767A>G c.753A>G (n.753A>G) c.865-290A>G (n.865-290A>G) c.*361A>G (n.*361A>G) c.908A>G (p.Gln303Arg) c.*743A>G (n.*743A>G) c.1039A>G (p.Asn347Asp) c.991A>G (p.Asn331Asp) c.994A>G (p.Asn332Asp) c.958-290A>G (n.958-290A>G) | |
X | g.154533092T>G | CA415234830 | G6PD | c.901A>C (p.Asn301His) c.904A>C (p.Asn302His) c.764A>C c.767A>C c.753A>C (n.753A>C) c.865-290A>C (n.865-290A>C) c.*361A>C (n.*361A>C) c.908A>C (p.Gln303Pro) c.*743A>C (n.*743A>C) c.1039A>C (p.Asn347His) c.991A>C (p.Asn331His) c.994A>C (p.Asn332His) c.958-290A>C (n.958-290A>C) | |
X | g.154533093G>A | CA519303710 | G6PD | c.900C>T (p.Ala300=) c.903C>T (p.Ala301=) c.763C>T c.766C>T c.752C>T (n.752C>T) c.865-291C>T (n.865-291C>T) c.*360C>T (n.*360C>T) c.907C>T (p.Gln303Ter) c.*742C>T (n.*742C>T) c.1038C>T (p.Ala346=) c.990C>T (p.Ala330=) c.993C>T (p.Ala331=) c.958-291C>T (n.958-291C>T) | |
X | g.154533093G>C | CA519303707 | G6PD | c.900C>G (p.Ala300=) c.903C>G (p.Ala301=) c.763C>G c.766C>G c.752C>G (n.752C>G) c.865-291C>G (n.865-291C>G) c.*360C>G (n.*360C>G) c.907C>G (p.Gln303Glu) c.*742C>G (n.*742C>G) c.1038C>G (p.Ala346=) c.990C>G (p.Ala330=) c.993C>G (p.Ala331=) c.958-291C>G (n.958-291C>G) | |
X | g.154533093G>T | CA519303709 | G6PD | c.900C>A (p.Ala300=) c.903C>A (p.Ala301=) c.763C>A c.766C>A c.752C>A (n.752C>A) c.865-291C>A (n.865-291C>A) c.*360C>A (n.*360C>A) c.907C>A (p.Gln303Lys) c.*742C>A (n.*742C>A) c.1038C>A (p.Ala346=) c.990C>A (p.Ala330=) c.993C>A (p.Ala331=) c.958-291C>A (n.958-291C>A) | |
X | g.154533094G>A | CA415234832 | G6PD | c.899C>T (p.Ala300Val) c.902C>T (p.Ala301Val) c.762C>T c.765C>T c.751C>T (n.751C>T) c.865-292C>T (n.865-292C>T) c.*359C>T (n.*359C>T) c.906C>T (p.Gly302=) c.*741C>T (n.*741C>T) c.1037C>T (p.Ala346Val) c.989C>T (p.Ala330Val) c.992C>T (p.Ala331Val) c.958-292C>T (n.958-292C>T) | |
X | g.154533094G>C | CA415234835 | G6PD | c.899C>G (p.Ala300Gly) c.902C>G (p.Ala301Gly) c.762C>G c.765C>G c.751C>G (n.751C>G) c.865-292C>G (n.865-292C>G) c.*359C>G (n.*359C>G) c.906C>G (p.Gly302=) c.*741C>G (n.*741C>G) c.1037C>G (p.Ala346Gly) c.989C>G (p.Ala330Gly) c.992C>G (p.Ala331Gly) c.958-292C>G (n.958-292C>G) | |
X | g.154533094G>T | CA415234834 | G6PD | c.899C>A (p.Ala300Asp) c.902C>A (p.Ala301Asp) c.762C>A c.765C>A c.751C>A (n.751C>A) c.865-292C>A (n.865-292C>A) c.*359C>A (n.*359C>A) c.906C>A (p.Gly302=) c.*741C>A (n.*741C>A) c.1037C>A (p.Ala346Asp) c.989C>A (p.Ala330Asp) c.992C>A (p.Ala331Asp) c.958-292C>A (n.958-292C>A) | |
X | g.154533095C>A | CA415234837 | G6PD | c.898G>T (p.Ala300Ser) c.901G>T (p.Ala301Ser) c.761G>T c.764G>T c.750G>T (n.750G>T) c.865-293G>T (n.865-293G>T) c.*358G>T (n.*358G>T) c.905G>T (p.Gly302Val) c.*740G>T (n.*740G>T) c.1036G>T (p.Ala346Ser) c.988G>T (p.Ala330Ser) c.991G>T (p.Ala331Ser) c.958-293G>T (n.958-293G>T) | |
X | g.154533095C>G | CA415234838 | G6PD | c.898G>C (p.Ala300Pro) c.901G>C (p.Ala301Pro) c.761G>C c.764G>C c.750G>C (n.750G>C) c.865-293G>C (n.865-293G>C) c.*358G>C (n.*358G>C) c.905G>C (p.Gly302Ala) c.*740G>C (n.*740G>C) c.1036G>C (p.Ala346Pro) c.988G>C (p.Ala330Pro) c.991G>C (p.Ala331Pro) c.958-293G>C (n.958-293G>C) | |
X | g.154533095C>T | CA415234840 | G6PD | c.898G>A (p.Ala300Thr) c.901G>A (p.Ala301Thr) c.761G>A c.764G>A c.750G>A (n.750G>A) c.865-293G>A (n.865-293G>A) c.*358G>A (n.*358G>A) c.905G>A (p.Gly302Asp) c.*740G>A (n.*740G>A) c.1036G>A (p.Ala346Thr) c.988G>A (p.Ala330Thr) c.991G>A (p.Ala331Thr) c.958-293G>A (n.958-293G>A) | gnomAD v4 |
X | g.154533096C>A | CA10566112 | G6PD | c.897G>T (p.Gln299His) c.900G>T (p.Gln300His) c.760G>T c.763G>T c.749G>T (n.749G>T) c.865-294G>T (n.865-294G>T) c.*357G>T (n.*357G>T) c.904G>T (p.Gly302Cys) c.*739G>T (n.*739G>T) c.1035G>T (p.Gln345His) c.987G>T (p.Gln329His) c.990G>T (p.Gln330His) c.958-294G>T (n.958-294G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154533096C= | CA2466723614 | G6PD | c.897G= (p.Gln299=) c.900G= (p.Gln300=) c.760G= c.763G= c.749G= (n.749G=) c.865-294G= (n.865-294G=) c.*357G= (n.*357G=) c.904G= (p.Gly302=) c.*739G= (n.*739G=) c.1035G= (p.Gln345=) c.987G= (p.Gln329=) c.990G= (p.Gln330=) c.958-294G= (n.958-294G=) | |
X | g.154533096C>G | CA415234843 | G6PD | c.897G>C (p.Gln299His) c.900G>C (p.Gln300His) c.760G>C c.763G>C c.749G>C (n.749G>C) c.865-294G>C (n.865-294G>C) c.*357G>C (n.*357G>C) c.904G>C (p.Gly302Arg) c.*739G>C (n.*739G>C) c.1035G>C (p.Gln345His) c.987G>C (p.Gln329His) c.990G>C (p.Gln330His) c.958-294G>C (n.958-294G>C) | |
X | g.154533096C>T | CA519303720 | G6PD | c.897G>A (p.Gln299=) c.900G>A (p.Gln300=) c.760G>A c.763G>A c.749G>A (n.749G>A) c.865-294G>A (n.865-294G>A) c.*357G>A (n.*357G>A) c.904G>A (p.Gly302Ser) c.*739G>A (n.*739G>A) c.1035G>A (p.Gln345=) c.987G>A (p.Gln329=) c.990G>A (p.Gln330=) c.958-294G>A (n.958-294G>A) | |
X | g.154533097T>A | CA415234845 | G6PD | c.896A>T (p.Gln299Leu) c.899A>T (p.Gln300Leu) c.759A>T c.762A>T c.748A>T (n.748A>T) c.865-295A>T (n.865-295A>T) c.*356A>T (n.*356A>T) c.903A>T (p.Ala301=) c.*738A>T (n.*738A>T) c.1034A>T (p.Gln345Leu) c.986A>T (p.Gln329Leu) c.989A>T (p.Gln330Leu) c.958-295A>T (n.958-295A>T) | |
X | g.154533097T>C | CA415234847 | G6PD | c.896A>G (p.Gln299Arg) c.899A>G (p.Gln300Arg) c.759A>G c.762A>G c.748A>G (n.748A>G) c.865-295A>G (n.865-295A>G) c.*356A>G (n.*356A>G) c.903A>G (p.Ala301=) c.*738A>G (n.*738A>G) c.1034A>G (p.Gln345Arg) c.986A>G (p.Gln329Arg) c.989A>G (p.Gln330Arg) c.958-295A>G (n.958-295A>G) | |
X | g.154533097T>G | CA415234848 | G6PD | c.896A>C (p.Gln299Pro) c.899A>C (p.Gln300Pro) c.759A>C c.762A>C c.748A>C (n.748A>C) c.865-295A>C (n.865-295A>C) c.*356A>C (n.*356A>C) c.903A>C (p.Ala301=) c.*738A>C (n.*738A>C) c.1034A>C (p.Gln345Pro) c.986A>C (p.Gln329Pro) c.989A>C (p.Gln330Pro) c.958-295A>C (n.958-295A>C) | |
X | g.154533098G>A | CA415234851 | G6PD | c.895C>T (p.Gln299Ter) c.898C>T (p.Gln300Ter) c.758C>T c.761C>T c.747C>T (n.747C>T) c.865-296C>T (n.865-296C>T) c.*355C>T (n.*355C>T) c.902C>T (p.Ala301Val) c.*737C>T (n.*737C>T) c.1033C>T (p.Gln345Ter) c.985C>T (p.Gln329Ter) c.988C>T (p.Gln330Ter) c.958-296C>T (n.958-296C>T) | |
X | g.154533098G>C | CA415234853 | G6PD | c.895C>G (p.Gln299Glu) c.898C>G (p.Gln300Glu) c.758C>G c.761C>G c.747C>G (n.747C>G) c.865-296C>G (n.865-296C>G) c.*355C>G (n.*355C>G) c.902C>G (p.Ala301Gly) c.*737C>G (n.*737C>G) c.1033C>G (p.Gln345Glu) c.985C>G (p.Gln329Glu) c.988C>G (p.Gln330Glu) c.958-296C>G (n.958-296C>G) | |
X | g.154533098G>T | CA415234855 | G6PD | c.895C>A (p.Gln299Lys) c.898C>A (p.Gln300Lys) c.758C>A c.761C>A c.747C>A (n.747C>A) c.865-296C>A (n.865-296C>A) c.*355C>A (n.*355C>A) c.902C>A (p.Ala301Glu) c.*737C>A (n.*737C>A) c.1033C>A (p.Gln345Lys) c.985C>A (p.Gln329Lys) c.988C>A (p.Gln330Lys) c.958-296C>A (n.958-296C>A) | |
X | g.154533099C>A | CA519303728 | G6PD | c.894G>T (p.Val298=) c.897G>T (p.Val299=) c.757G>T c.760G>T c.746G>T (n.746G>T) c.865-297G>T (n.865-297G>T) c.*354G>T (n.*354G>T) c.901G>T (p.Ala301Ser) c.*736G>T (n.*736G>T) c.1032G>T (p.Val344=) c.984G>T (p.Val328=) c.987G>T (p.Val329=) c.958-297G>T (n.958-297G>T) | ClinVar gnomAD v4 |
X | g.154533099C>G | CA519303732 | G6PD | c.894G>C (p.Val298=) c.897G>C (p.Val299=) c.757G>C c.760G>C c.746G>C (n.746G>C) c.865-297G>C (n.865-297G>C) c.*354G>C (n.*354G>C) c.901G>C (p.Ala301Pro) c.*736G>C (n.*736G>C) c.1032G>C (p.Val344=) c.984G>C (p.Val328=) c.987G>C (p.Val329=) c.958-297G>C (n.958-297G>C) | |
X | g.154533099C>T | CA519303730 | G6PD | c.894G>A (p.Val298=) c.897G>A (p.Val299=) c.757G>A c.760G>A c.746G>A (n.746G>A) c.865-297G>A (n.865-297G>A) c.*354G>A (n.*354G>A) c.901G>A (p.Ala301Thr) c.*736G>A (n.*736G>A) c.1032G>A (p.Val344=) c.984G>A (p.Val328=) c.987G>A (p.Val329=) c.958-297G>A (n.958-297G>A) | |
X | g.154533100A>C | CA415234860 | G6PD | c.893T>G (p.Val298Gly) c.896T>G (p.Val299Gly) c.756T>G c.759T>G c.745T>G (n.745T>G) c.865-298T>G (n.865-298T>G) c.*353T>G (n.*353T>G) c.900T>G (p.Gly300=) c.*735T>G (n.*735T>G) c.1031T>G (p.Val344Gly) c.983T>G (p.Val328Gly) c.986T>G (p.Val329Gly) c.958-298T>G (n.958-298T>G) | |
X | g.154533100A>G | CA415234857 | G6PD | c.893T>C (p.Val298Ala) c.896T>C (p.Val299Ala) c.756T>C c.759T>C c.745T>C (n.745T>C) c.865-298T>C (n.865-298T>C) c.*353T>C (n.*353T>C) c.900T>C (p.Gly300=) c.*735T>C (n.*735T>C) c.1031T>C (p.Val344Ala) c.983T>C (p.Val328Ala) c.986T>C (p.Val329Ala) c.958-298T>C (n.958-298T>C) | |
X | g.154533100A>T | CA415234858 | G6PD | c.893T>A (p.Val298Glu) c.896T>A (p.Val299Glu) c.756T>A c.759T>A c.745T>A (n.745T>A) c.865-298T>A (n.865-298T>A) c.*353T>A (n.*353T>A) c.900T>A (p.Gly300=) c.*735T>A (n.*735T>A) c.1031T>A (p.Val344Glu) c.983T>A (p.Val328Glu) c.986T>A (p.Val329Glu) c.958-298T>A (n.958-298T>A) | |
X | g.154533101C>A | CA415234862 | G6PD | c.892G>T (p.Val298Leu) c.895G>T (p.Val299Leu) c.755G>T c.758G>T c.744G>T (n.744G>T) c.865-299G>T (n.865-299G>T) c.*352G>T (n.*352G>T) c.899G>T (p.Gly300Val) c.*734G>T (n.*734G>T) c.1030G>T (p.Val344Leu) c.982G>T (p.Val328Leu) c.985G>T (p.Val329Leu) c.958-299G>T (n.958-299G>T) | |
X | g.154533101C= | CA2466723615 | G6PD | c.892G= (p.Val298=) c.895G= (p.Val299=) c.755G= c.758G= c.744G= (n.744G=) c.865-299G= (n.865-299G=) c.*352G= (n.*352G=) c.899G= (p.Gly300=) c.*734G= (n.*734G=) c.1030G= (p.Val344=) c.982G= (p.Val328=) c.985G= (p.Val329=) c.958-299G= (n.958-299G=) | |
X | g.154533101C>G | CA415234864 | G6PD | c.892G>C (p.Val298Leu) c.895G>C (p.Val299Leu) c.755G>C c.758G>C c.744G>C (n.744G>C) c.865-299G>C (n.865-299G>C) c.*352G>C (n.*352G>C) c.899G>C (p.Gly300Ala) c.*734G>C (n.*734G>C) c.1030G>C (p.Val344Leu) c.982G>C (p.Val328Leu) c.985G>C (p.Val329Leu) c.958-299G>C (n.958-299G>C) | |
X | g.154533101C>T | CA415234866 | G6PD | c.892G>A (p.Val298Met) c.895G>A (p.Val299Met) c.755G>A c.758G>A c.744G>A (n.744G>A) c.865-299G>A (n.865-299G>A) c.*352G>A (n.*352G>A) c.899G>A (p.Gly300Asp) c.*734G>A (n.*734G>A) c.1030G>A (p.Val344Met) c.982G>A (p.Val328Met) c.985G>A (p.Val329Met) c.958-299G>A (n.958-299G>A) | dbSNP gnomAD v4 |
X | g.154533102C>A | CA415234868 | G6PD | c.891G>T (p.Glu297Asp) c.894G>T (p.Glu298Asp) c.754G>T c.757G>T c.743G>T (n.743G>T) c.865-300G>T (n.865-300G>T) c.*351G>T (n.*351G>T) c.898G>T (p.Gly300Cys) c.*733G>T (n.*733G>T) c.1029G>T (p.Glu343Asp) c.981G>T (p.Glu327Asp) c.984G>T (p.Glu328Asp) c.958-300G>T (n.958-300G>T) | dbSNP |
X | g.154533102C= | CA2466723616 | G6PD | c.891G= (p.Glu297=) c.894G= (p.Glu298=) c.754G= c.757G= c.743G= (n.743G=) c.865-300G= (n.865-300G=) c.*351G= (n.*351G=) c.898G= (p.Gly300=) c.*733G= (n.*733G=) c.1029G= (p.Glu343=) c.981G= (p.Glu327=) c.984G= (p.Glu328=) c.958-300G= (n.958-300G=) | |
X | g.154533102C>G | CA415234870 | G6PD | c.891G>C (p.Glu297Asp) c.894G>C (p.Glu298Asp) c.754G>C c.757G>C c.743G>C (n.743G>C) c.865-300G>C (n.865-300G>C) c.*351G>C (n.*351G>C) c.898G>C (p.Gly300Arg) c.*733G>C (n.*733G>C) c.1029G>C (p.Glu343Asp) c.981G>C (p.Glu327Asp) c.984G>C (p.Glu328Asp) c.958-300G>C (n.958-300G>C) | |
X | g.154533102C>T | CA519303737 | G6PD | c.891G>A (p.Glu297=) c.894G>A (p.Glu298=) c.754G>A c.757G>A c.743G>A (n.743G>A) c.865-300G>A (n.865-300G>A) c.*351G>A (n.*351G>A) c.898G>A (p.Gly300Ser) c.*733G>A (n.*733G>A) c.1029G>A (p.Glu343=) c.981G>A (p.Glu327=) c.984G>A (p.Glu328=) c.958-300G>A (n.958-300G>A) | |
X | g.154533103T>A | CA415234872 | G6PD | c.890A>T (p.Glu297Val) c.893A>T (p.Glu298Val) c.753A>T c.756A>T c.742A>T (n.742A>T) c.865-301A>T (n.865-301A>T) c.*350A>T (n.*350A>T) c.897A>T (p.Arg299Ser) c.*732A>T (n.*732A>T) c.1028A>T (p.Glu343Val) c.980A>T (p.Glu327Val) c.983A>T (p.Glu328Val) c.958-301A>T (n.958-301A>T) | |
X | g.154533103T>C | CA415234873 | G6PD | c.890A>G (p.Glu297Gly) c.893A>G (p.Glu298Gly) c.753A>G c.756A>G c.742A>G (n.742A>G) c.865-301A>G (n.865-301A>G) c.*350A>G (n.*350A>G) c.897A>G (p.Arg299=) c.*732A>G (n.*732A>G) c.1028A>G (p.Glu343Gly) c.980A>G (p.Glu327Gly) c.983A>G (p.Glu328Gly) c.958-301A>G (n.958-301A>G) | gnomAD v4 |
X | g.154533103T>G | CA415234874 | G6PD | c.890A>C (p.Glu297Ala) c.893A>C (p.Glu298Ala) c.753A>C c.756A>C c.742A>C (n.742A>C) c.865-301A>C (n.865-301A>C) c.*350A>C (n.*350A>C) c.897A>C (p.Arg299Ser) c.*732A>C (n.*732A>C) c.1028A>C (p.Glu343Ala) c.980A>C (p.Glu327Ala) c.983A>C (p.Glu328Ala) c.958-301A>C (n.958-301A>C) | |
X | g.154533104C>A | CA415234875 | G6PD | c.889G>T (p.Glu297Ter) c.892G>T (p.Glu298Ter) c.752G>T c.755G>T c.741G>T (n.741G>T) c.865-302G>T (n.865-302G>T) c.*349G>T (n.*349G>T) c.896G>T (p.Arg299Ile) c.*731G>T (n.*731G>T) c.1027G>T (p.Glu343Ter) c.979G>T (p.Glu327Ter) c.982G>T (p.Glu328Ter) c.958-302G>T (n.958-302G>T) | |
X | g.154533104C= | CA2466723617 | G6PD | c.889G= (p.Glu297=) c.892G= (p.Glu298=) c.752G= c.755G= c.741G= (n.741G=) c.865-302G= (n.865-302G=) c.*349G= (n.*349G=) c.896G= (p.Arg299=) c.*731G= (n.*731G=) c.1027G= (p.Glu343=) c.979G= (p.Glu327=) c.982G= (p.Glu328=) c.958-302G= (n.958-302G=) | |
X | g.154533104C>G | CA415234876 | G6PD | c.889G>C (p.Glu297Gln) c.892G>C (p.Glu298Gln) c.752G>C c.755G>C c.741G>C (n.741G>C) c.865-302G>C (n.865-302G>C) c.*349G>C (n.*349G>C) c.896G>C (p.Arg299Thr) c.*731G>C (n.*731G>C) c.1027G>C (p.Glu343Gln) c.979G>C (p.Glu327Gln) c.982G>C (p.Glu328Gln) c.958-302G>C (n.958-302G>C) | |
X | g.154533104C>T | CA10566113 | G6PD | c.889G>A (p.Glu297Lys) c.892G>A (p.Glu298Lys) c.752G>A c.755G>A c.741G>A (n.741G>A) c.865-302G>A (n.865-302G>A) c.*349G>A (n.*349G>A) c.896G>A (p.Arg299Lys) c.*731G>A (n.*731G>A) c.1027G>A (p.Glu343Lys) c.979G>A (p.Glu327Lys) c.982G>A (p.Glu328Lys) c.958-302G>A (n.958-302G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154533104_154533107del | CA2579742031 | G6PD | c.886_889del (p.Ser296ArgfsTer?) c.889_892del (p.Ser297ArgfsTer?) c.749_752del c.752_755del c.738_741del (n.738_741del) c.865-305_865-302del (n.865-305_865-302del) c.*346_*349del (n.*346_*349del) c.893_896del (p.Leu298GlnfsTer?) c.*728_*731del (n.*728_*731del) c.1024_1027del (p.Ser342ArgfsTer?) c.976_979del (p.Ser326ArgfsTer?) c.979_982del (p.Ser327ArgfsTer?) c.958-305_958-302del (n.958-305_958-302del) | |
X | g.154533105T>A | CA519303743 | G6PD | c.888A>T (p.Ser296=) c.891A>T (p.Ser297=) c.751A>T c.754A>T c.740A>T (n.740A>T) c.865-303A>T (n.865-303A>T) c.*348A>T (n.*348A>T) c.895A>T (p.Arg299Ter) c.*730A>T (n.*730A>T) c.1026A>T (p.Ser342=) c.978A>T (p.Ser326=) c.981A>T (p.Ser327=) c.958-303A>T (n.958-303A>T) | |
X | g.154533105T>C | CA519303744 | G6PD | c.888A>G (p.Ser296=) c.891A>G (p.Ser297=) c.751A>G c.754A>G c.740A>G (n.740A>G) c.865-303A>G (n.865-303A>G) c.*348A>G (n.*348A>G) c.895A>G (p.Arg299Gly) c.*730A>G (n.*730A>G) c.1026A>G (p.Ser342=) c.978A>G (p.Ser326=) c.981A>G (p.Ser327=) c.958-303A>G (n.958-303A>G) | |
X | g.154533105T>G | CA519303745 | G6PD | c.888A>C (p.Ser296=) c.891A>C (p.Ser297=) c.751A>C c.754A>C c.740A>C (n.740A>C) c.865-303A>C (n.865-303A>C) c.*348A>C (n.*348A>C) c.895A>C (p.Arg299=) c.*730A>C (n.*730A>C) c.1026A>C (p.Ser342=) c.978A>C (p.Ser326=) c.981A>C (p.Ser327=) c.958-303A>C (n.958-303A>C) | |
X | g.154533106G>A | CA415234882 | G6PD | c.887C>T (p.Ser296Leu) c.890C>T (p.Ser297Leu) c.750C>T c.753C>T c.739C>T (n.739C>T) c.865-304C>T (n.865-304C>T) c.*347C>T (n.*347C>T) c.894C>T (p.Leu298=) c.*729C>T (n.*729C>T) c.1025C>T (p.Ser342Leu) c.977C>T (p.Ser326Leu) c.980C>T (p.Ser327Leu) c.958-304C>T (n.958-304C>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154533106G>C | CA415234880 | G6PD | c.887C>G (p.Ser296Ter) c.890C>G (p.Ser297Ter) c.750C>G c.753C>G c.739C>G (n.739C>G) c.865-304C>G (n.865-304C>G) c.*347C>G (n.*347C>G) c.894C>G (p.Leu298=) c.*729C>G (n.*729C>G) c.1025C>G (p.Ser342Ter) c.977C>G (p.Ser326Ter) c.980C>G (p.Ser327Ter) c.958-304C>G (n.958-304C>G) | |
X | g.154533106G= | CA2466723618 | G6PD | c.887C= (p.Ser296=) c.890C= (p.Ser297=) c.750C= c.753C= c.739C= (n.739C=) c.865-304C= (n.865-304C=) c.*347C= (n.*347C=) c.894C= (p.Leu298=) c.*729C= (n.*729C=) c.1025C= (p.Ser342=) c.977C= (p.Ser326=) c.980C= (p.Ser327=) c.958-304C= (n.958-304C=) | |
X | g.154533106G>T | CA415234879 | G6PD | c.887C>A (p.Ser296Ter) c.890C>A (p.Ser297Ter) c.750C>A c.753C>A c.739C>A (n.739C>A) c.865-304C>A (n.865-304C>A) c.*347C>A (n.*347C>A) c.894C>A (p.Leu298=) c.*729C>A (n.*729C>A) c.1025C>A (p.Ser342Ter) c.977C>A (p.Ser326Ter) c.980C>A (p.Ser327Ter) c.958-304C>A (n.958-304C>A) | |
X | g.154533107A>C | CA415234884 | G6PD | c.886T>G (p.Ser296Ala) c.889T>G (p.Ser297Ala) c.749T>G c.752T>G c.738T>G (n.738T>G) c.865-305T>G (n.865-305T>G) c.*346T>G (n.*346T>G) c.893T>G (p.Leu298Arg) c.*728T>G (n.*728T>G) c.1024T>G (p.Ser342Ala) c.976T>G (p.Ser326Ala) c.979T>G (p.Ser327Ala) c.958-305T>G (n.958-305T>G) | |
X | g.154533107A>G | CA415234886 | G6PD | c.886T>C (p.Ser296Pro) c.889T>C (p.Ser297Pro) c.749T>C c.752T>C c.738T>C (n.738T>C) c.865-305T>C (n.865-305T>C) c.*346T>C (n.*346T>C) c.893T>C (p.Leu298Pro) c.*728T>C (n.*728T>C) c.1024T>C (p.Ser342Pro) c.976T>C (p.Ser326Pro) c.979T>C (p.Ser327Pro) c.958-305T>C (n.958-305T>C) | |
X | g.154533107A>T | CA415234888 | G6PD | c.886T>A (p.Ser296Thr) c.889T>A (p.Ser297Thr) c.749T>A c.752T>A c.738T>A (n.738T>A) c.865-305T>A (n.865-305T>A) c.*346T>A (n.*346T>A) c.893T>A (p.Leu298His) c.*728T>A (n.*728T>A) c.1024T>A (p.Ser342Thr) c.976T>A (p.Ser326Thr) c.979T>A (p.Ser327Thr) c.958-305T>A (n.958-305T>A) | |
X | g.154533108G>A | CA519303749 | G6PD | c.885C>T (p.Ile295=) c.888C>T (p.Ile296=) c.748C>T c.751C>T c.737C>T (n.737C>T) c.865-306C>T (n.865-306C>T) c.*345C>T (n.*345C>T) c.892C>T (p.Leu298Phe) c.*727C>T (n.*727C>T) c.1023C>T (p.Ile341=) c.975C>T (p.Ile325=) c.978C>T (p.Ile326=) c.958-306C>T (n.958-306C>T) | dbSNP gnomAD v4 |
X | g.154533108G>C | CA415234889 | G6PD | c.885C>G (p.Ile295Met) c.888C>G (p.Ile296Met) c.748C>G c.751C>G c.737C>G (n.737C>G) c.865-306C>G (n.865-306C>G) c.*345C>G (n.*345C>G) c.892C>G (p.Leu298Val) c.*727C>G (n.*727C>G) c.1023C>G (p.Ile341Met) c.975C>G (p.Ile325Met) c.978C>G (p.Ile326Met) c.958-306C>G (n.958-306C>G) | |
X | g.154533108G= | CA2466723619 | G6PD | c.885C= (p.Ile295=) c.888C= (p.Ile296=) c.748C= c.751C= c.737C= (n.737C=) c.865-306C= (n.865-306C=) c.*345C= (n.*345C=) c.892C= (p.Leu298=) c.*727C= (n.*727C=) c.1023C= (p.Ile341=) c.975C= (p.Ile325=) c.978C= (p.Ile326=) c.958-306C= (n.958-306C=) | |
X | g.154533108G>T | CA519303752 | G6PD | c.885C>A (p.Ile295=) c.888C>A (p.Ile296=) c.748C>A c.751C>A c.737C>A (n.737C>A) c.865-306C>A (n.865-306C>A) c.*345C>A (n.*345C>A) c.892C>A (p.Leu298Ile) c.*727C>A (n.*727C>A) c.1023C>A (p.Ile341=) c.975C>A (p.Ile325=) c.978C>A (p.Ile326=) c.958-306C>A (n.958-306C>A) | |
X | g.154533109A>C | CA415234892 | G6PD | c.884T>G (p.Ile295Ser) c.887T>G (p.Ile296Ser) c.747T>G c.750T>G c.736T>G (n.736T>G) c.865-307T>G (n.865-307T>G) c.*344T>G (n.*344T>G) c.891T>G (p.His297Gln) c.*726T>G (n.*726T>G) c.1022T>G (p.Ile341Ser) c.974T>G (p.Ile325Ser) c.977T>G (p.Ile326Ser) c.958-307T>G (n.958-307T>G) | |
X | g.154533109A>G | CA415234893 | G6PD | c.884T>C (p.Ile295Thr) c.887T>C (p.Ile296Thr) c.747T>C c.750T>C c.736T>C (n.736T>C) c.865-307T>C (n.865-307T>C) c.*344T>C (n.*344T>C) c.891T>C (p.His297=) c.*726T>C (n.*726T>C) c.1022T>C (p.Ile341Thr) c.974T>C (p.Ile325Thr) c.977T>C (p.Ile326Thr) c.958-307T>C (n.958-307T>C) | |
X | g.154533109A>T | CA415234895 | G6PD | c.884T>A (p.Ile295Asn) c.887T>A (p.Ile296Asn) c.747T>A c.750T>A c.736T>A (n.736T>A) c.865-307T>A (n.865-307T>A) c.*344T>A (n.*344T>A) c.891T>A (p.His297Gln) c.*726T>A (n.*726T>A) c.1022T>A (p.Ile341Asn) c.974T>A (p.Ile325Asn) c.977T>A (p.Ile326Asn) c.958-307T>A (n.958-307T>A) | |
X | g.154533110T>A | CA415234897 | G6PD | c.883A>T (p.Ile295Phe) c.886A>T (p.Ile296Phe) c.746A>T c.749A>T c.735A>T (n.735A>T) c.865-308A>T (n.865-308A>T) c.*343A>T (n.*343A>T) c.890A>T (p.His297Leu) c.*725A>T (n.*725A>T) c.1021A>T (p.Ile341Phe) c.973A>T (p.Ile325Phe) c.976A>T (p.Ile326Phe) c.958-308A>T (n.958-308A>T) | |
X | g.154533110T>C | CA415234899 | G6PD | c.883A>G (p.Ile295Val) c.886A>G (p.Ile296Val) c.746A>G c.749A>G c.735A>G (n.735A>G) c.865-308A>G (n.865-308A>G) c.*343A>G (n.*343A>G) c.890A>G (p.His297Arg) c.*725A>G (n.*725A>G) c.1021A>G (p.Ile341Val) c.973A>G (p.Ile325Val) c.976A>G (p.Ile326Val) c.958-308A>G (n.958-308A>G) | dbSNP |
X | g.154533110T>G | CA415234901 | G6PD | c.883A>C (p.Ile295Leu) c.886A>C (p.Ile296Leu) c.746A>C c.749A>C c.735A>C (n.735A>C) c.865-308A>C (n.865-308A>C) c.*343A>C (n.*343A>C) c.890A>C (p.His297Pro) c.*725A>C (n.*725A>C) c.1021A>C (p.Ile341Leu) c.973A>C (p.Ile325Leu) c.976A>C (p.Ile326Leu) c.958-308A>C (n.958-308A>C) | |
X | g.154533110T= | CA2466723621 | G6PD | c.883A= (p.Ile295=) c.886A= (p.Ile296=) c.746A= c.749A= c.735A= (n.735A=) c.865-308A= (n.865-308A=) c.*343A= (n.*343A=) c.890A= (p.His297=) c.*725A= (n.*725A=) c.1021A= (p.Ile341=) c.973A= (p.Ile325=) c.976A= (p.Ile326=) c.958-308A= (n.958-308A=) | |
X | g.154533110_154533111delinsTG | CA2466723620 | G6PD | c.882_883delinsCA (p.Cys294=) c.885_886delinsCA (p.Cys295=) c.745_746delinsCA c.748_749delinsCA c.734_735delinsCA (n.734_735delinsCA) c.865-309_865-308delinsCA (n.865-309_865-308delinsCA) c.*342_*343delinsCA (n.*342_*343delinsCA) c.889_890delinsCA (p.His297=) c.*724_*725delinsCA (n.*724_*725delinsCA) c.1020_1021delinsCA (p.Cys340=) c.972_973delinsCA (p.Cys324=) c.975_976delinsCA (p.Cys325=) c.958-309_958-308delinsCA (n.958-309_958-308delinsCA) | |
X | g.154533111del | CA645291575 | G6PD | c.882del (p.Cys294Ter) c.885del (p.Cys295Ter) c.745del c.748del c.734del (n.734del) c.865-309del (n.865-309del) c.*342del (n.*342del) c.889del (p.His297IlefsTer?) c.*724del (n.*724del) c.1020del (p.Cys340Ter) c.972del (p.Cys324Ter) c.975del (p.Cys325Ter) c.958-309del (n.958-309del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.154533111G>A | CA519303755 | G6PD | c.882C>T (p.Cys294=) c.885C>T (p.Cys295=) c.745C>T c.748C>T c.734C>T (n.734C>T) c.865-309C>T (n.865-309C>T) c.*342C>T (n.*342C>T) c.889C>T (p.His297Tyr) c.*724C>T (n.*724C>T) c.1020C>T (p.Cys340=) c.972C>T (p.Cys324=) c.975C>T (p.Cys325=) c.958-309C>T (n.958-309C>T) | dbSNP |
X | g.154533111G>C | CA415234903 | G6PD | c.882C>G (p.Cys294Trp) c.885C>G (p.Cys295Trp) c.745C>G c.748C>G c.734C>G (n.734C>G) c.865-309C>G (n.865-309C>G) c.*342C>G (n.*342C>G) c.889C>G (p.His297Asp) c.*724C>G (n.*724C>G) c.1020C>G (p.Cys340Trp) c.972C>G (p.Cys324Trp) c.975C>G (p.Cys325Trp) c.958-309C>G (n.958-309C>G) | |
X | g.154533111G= | CA2466723622 | G6PD | c.882C= (p.Cys294=) c.885C= (p.Cys295=) c.745C= c.748C= c.734C= (n.734C=) c.865-309C= (n.865-309C=) c.*342C= (n.*342C=) c.889C= (p.His297=) c.*724C= (n.*724C=) c.1020C= (p.Cys340=) c.972C= (p.Cys324=) c.975C= (p.Cys325=) c.958-309C= (n.958-309C=) | |
X | g.154533111G>T | CA415234905 | G6PD | c.882C>A (p.Cys294Ter) c.885C>A (p.Cys295Ter) c.745C>A c.748C>A c.734C>A (n.734C>A) c.865-309C>A (n.865-309C>A) c.*342C>A (n.*342C>A) c.889C>A (p.His297Asn) c.*724C>A (n.*724C>A) c.1020C>A (p.Cys340Ter) c.972C>A (p.Cys324Ter) c.975C>A (p.Cys325Ter) c.958-309C>A (n.958-309C>A) | |
X | g.154533112C>A | CA415234906 | G6PD | c.881G>T (p.Cys294Phe) c.884G>T (p.Cys295Phe) c.744G>T c.747G>T c.733G>T (n.733G>T) c.865-310G>T (n.865-310G>T) c.*341G>T (n.*341G>T) c.888G>T (p.Met296Ile) c.*723G>T (n.*723G>T) c.1019G>T (p.Cys340Phe) c.971G>T (p.Cys324Phe) c.974G>T (p.Cys325Phe) c.958-310G>T (n.958-310G>T) | |
X | g.154533112C>G | CA415234908 | G6PD | c.881G>C (p.Cys294Ser) c.884G>C (p.Cys295Ser) c.744G>C c.747G>C c.733G>C (n.733G>C) c.865-310G>C (n.865-310G>C) c.*341G>C (n.*341G>C) c.888G>C (p.Met296Ile) c.*723G>C (n.*723G>C) c.1019G>C (p.Cys340Ser) c.971G>C (p.Cys324Ser) c.974G>C (p.Cys325Ser) c.958-310G>C (n.958-310G>C) | |
X | g.154533112C>T | CA415234907 | G6PD | c.881G>A (p.Cys294Tyr) c.884G>A (p.Cys295Tyr) c.744G>A c.747G>A c.733G>A (n.733G>A) c.865-310G>A (n.865-310G>A) c.*341G>A (n.*341G>A) c.888G>A (p.Met296Ile) c.*723G>A (n.*723G>A) c.1019G>A (p.Cys340Tyr) c.971G>A (p.Cys324Tyr) c.974G>A (p.Cys325Tyr) c.958-310G>A (n.958-310G>A) | |
X | g.154533113A>C | CA415234910 | G6PD | c.880T>G (p.Cys294Gly) c.883T>G (p.Cys295Gly) c.743T>G c.746T>G c.732T>G (n.732T>G) c.865-311T>G (n.865-311T>G) c.*340T>G (n.*340T>G) c.887T>G (p.Met296Arg) c.*722T>G (n.*722T>G) c.1018T>G (p.Cys340Gly) c.970T>G (p.Cys324Gly) c.973T>G (p.Cys325Gly) c.958-311T>G (n.958-311T>G) | |
X | g.154533113A>G | CA415234914 | G6PD | c.880T>C (p.Cys294Arg) c.883T>C (p.Cys295Arg) c.743T>C c.746T>C c.732T>C (n.732T>C) c.865-311T>C (n.865-311T>C) c.*340T>C (n.*340T>C) c.887T>C (p.Met296Thr) c.*722T>C (n.*722T>C) c.1018T>C (p.Cys340Arg) c.970T>C (p.Cys324Arg) c.973T>C (p.Cys325Arg) c.958-311T>C (n.958-311T>C) | |
X | g.154533113A>T | CA415234912 | G6PD | c.880T>A (p.Cys294Ser) c.883T>A (p.Cys295Ser) c.743T>A c.746T>A c.732T>A (n.732T>A) c.865-311T>A (n.865-311T>A) c.*340T>A (n.*340T>A) c.887T>A (p.Met296Lys) c.*722T>A (n.*722T>A) c.1018T>A (p.Cys340Ser) c.970T>A (p.Cys324Ser) c.973T>A (p.Cys325Ser) c.958-311T>A (n.958-311T>A) | |
X | g.154533114T>A | CA415234916 | G6PD | c.879A>T (p.Lys293Asn) c.882A>T (p.Lys294Asn) c.742A>T c.745A>T c.731A>T (n.731A>T) c.865-312A>T (n.865-312A>T) c.*339A>T (n.*339A>T) c.886A>T (p.Met296Leu) c.*721A>T (n.*721A>T) c.1017A>T (p.Lys339Asn) c.969A>T (p.Lys323Asn) c.972A>T (p.Lys324Asn) c.958-312A>T (n.958-312A>T) | |
X | g.154533114T>C | CA519303756 | G6PD | c.879A>G (p.Lys293=) c.882A>G (p.Lys294=) c.742A>G c.745A>G c.731A>G (n.731A>G) c.865-312A>G (n.865-312A>G) c.*339A>G (n.*339A>G) c.886A>G (p.Met296Val) c.*721A>G (n.*721A>G) c.1017A>G (p.Lys339=) c.969A>G (p.Lys323=) c.972A>G (p.Lys324=) c.958-312A>G (n.958-312A>G) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154533114T>G | CA415234918 | G6PD | c.879A>C (p.Lys293Asn) c.882A>C (p.Lys294Asn) c.742A>C c.745A>C c.731A>C (n.731A>C) c.865-312A>C (n.865-312A>C) c.*339A>C (n.*339A>C) c.886A>C (p.Met296Leu) c.*721A>C (n.*721A>C) c.1017A>C (p.Lys339Asn) c.969A>C (p.Lys323Asn) c.972A>C (p.Lys324Asn) c.958-312A>C (n.958-312A>C) | |
X | g.154533114T= | CA2466723623 | G6PD | c.879A= (p.Lys293=) c.882A= (p.Lys294=) c.742A= c.745A= c.731A= (n.731A=) c.865-312A= (n.865-312A=) c.*339A= (n.*339A=) c.886A= (p.Met296=) c.*721A= (n.*721A=) c.1017A= (p.Lys339=) c.969A= (p.Lys323=) c.972A= (p.Lys324=) c.958-312A= (n.958-312A=) | |
X | g.154533115T>A | CA415234920 | G6PD | c.878A>T (p.Lys293Ile) c.881A>T (p.Lys294Ile) c.741A>T c.744A>T c.730A>T (n.730A>T) c.865-313A>T (n.865-313A>T) c.*338A>T (n.*338A>T) c.885A>T (p.Glu295Asp) c.*720A>T (n.*720A>T) c.1016A>T (p.Lys339Ile) c.968A>T (p.Lys323Ile) c.971A>T (p.Lys324Ile) c.958-313A>T (n.958-313A>T) | |
X | g.154533115T>C | CA415234922 | G6PD | c.878A>G (p.Lys293Arg) c.881A>G (p.Lys294Arg) c.741A>G c.744A>G c.730A>G (n.730A>G) c.865-313A>G (n.865-313A>G) c.*338A>G (n.*338A>G) c.885A>G (p.Glu295=) c.*720A>G (n.*720A>G) c.1016A>G (p.Lys339Arg) c.968A>G (p.Lys323Arg) c.971A>G (p.Lys324Arg) c.958-313A>G (n.958-313A>G) | |
X | g.154533115T>G | CA415234924 | G6PD | c.878A>C (p.Lys293Thr) c.881A>C (p.Lys294Thr) c.741A>C c.744A>C c.730A>C (n.730A>C) c.865-313A>C (n.865-313A>C) c.*338A>C (n.*338A>C) c.885A>C (p.Glu295Asp) c.*720A>C (n.*720A>C) c.1016A>C (p.Lys339Thr) c.968A>C (p.Lys323Thr) c.971A>C (p.Lys324Thr) c.958-313A>C (n.958-313A>C) | |
X | g.154533116T>A | CA415234926 | G6PD | c.877A>T (p.Lys293Ter) c.880A>T (p.Lys294Ter) c.740A>T c.743A>T c.729A>T (p.Ter243Cys) c.865-314A>T (n.865-314A>T) c.*337A>T (n.*337A>T) c.884A>T (p.Glu295Val) c.*719A>T (n.*719A>T) c.1015A>T (p.Lys339Ter) c.967A>T (p.Lys323Ter) c.970A>T (p.Lys324Ter) c.958-314A>T (n.958-314A>T) | |
X | g.154533116T>C | CA415234928 | G6PD | c.877A>G (p.Lys293Glu) c.880A>G (p.Lys294Glu) c.740A>G c.743A>G c.729A>G (p.Ter243Trp) c.865-314A>G (n.865-314A>G) c.*337A>G (n.*337A>G) c.884A>G (p.Glu295Gly) c.*719A>G (n.*719A>G) c.1015A>G (p.Lys339Glu) c.967A>G (p.Lys323Glu) c.970A>G (p.Lys324Glu) c.958-314A>G (n.958-314A>G) | |
X | g.154533116T>G | CA415234929 | G6PD | c.877A>C (p.Lys293Gln) c.880A>C (p.Lys294Gln) c.740A>C c.743A>C c.729A>C (p.Ter243Cys) c.865-314A>C (n.865-314A>C) c.*337A>C (n.*337A>C) c.884A>C (p.Glu295Ala) c.*719A>C (n.*719A>C) c.1015A>C (p.Lys339Gln) c.967A>C (p.Lys323Gln) c.970A>C (p.Lys324Gln) c.958-314A>C (n.958-314A>C) | |
X | g.154533117C>A | CA415234931 | G6PD | c.876G>T (p.Leu292Phe) c.879G>T (p.Leu293Phe) c.739G>T c.742G>T c.728G>T (p.Ter243Leu) c.865-315G>T (n.865-315G>T) c.*336G>T (n.*336G>T) c.883G>T (p.Glu295Ter) c.*718G>T (n.*718G>T) c.1014G>T (p.Leu338Phe) c.966G>T (p.Leu322Phe) c.969G>T (p.Leu323Phe) c.958-315G>T (n.958-315G>T) | gnomAD v4 |
X | g.154533117C= | CA2466723624 | G6PD | c.876G= (p.Leu292=) c.879G= (p.Leu293=) c.739G= c.742G= c.728G= (p.Ter243=) c.865-315G= (n.865-315G=) c.*336G= (n.*336G=) c.883G= (p.Glu295=) c.*718G= (n.*718G=) c.1014G= (p.Leu338=) c.966G= (p.Leu322=) c.969G= (p.Leu323=) c.958-315G= (n.958-315G=) | |
X | g.154533117C>G | CA415234933 | G6PD | c.876G>C (p.Leu292Phe) c.879G>C (p.Leu293Phe) c.739G>C c.742G>C c.728G>C (p.Ter243Ser) c.865-315G>C (n.865-315G>C) c.*336G>C (n.*336G>C) c.883G>C (p.Glu295Gln) c.*718G>C (n.*718G>C) c.1014G>C (p.Leu338Phe) c.966G>C (p.Leu322Phe) c.969G>C (p.Leu323Phe) c.958-315G>C (n.958-315G>C) | |
X | g.154533117C>T | CA519303757 | G6PD | c.876G>A (p.Leu292=) c.879G>A (p.Leu293=) c.739G>A c.742G>A c.728G>A (p.Ter243=) c.865-315G>A (n.865-315G>A) c.*336G>A (n.*336G>A) c.883G>A (p.Glu295Lys) c.*718G>A (n.*718G>A) c.1014G>A (p.Leu338=) c.966G>A (p.Leu322=) c.969G>A (p.Leu323=) c.958-315G>A (n.958-315G>A) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154533118A>C | CA415234935 | G6PD | c.875T>G (p.Leu292Trp) c.878T>G (p.Leu293Trp) c.738T>G c.741T>G c.727T>G (p.Ter243Gly) c.865-316T>G (n.865-316T>G) c.*335T>G (n.*335T>G) c.882T>G (p.Val294=) c.*717T>G (n.*717T>G) c.1013T>G (p.Leu338Trp) c.965T>G (p.Leu322Trp) c.968T>G (p.Leu323Trp) c.958-316T>G (n.958-316T>G) | |
X | g.154533118A>G | CA415234937 | G6PD | c.875T>C (p.Leu292Ser) c.878T>C (p.Leu293Ser) c.738T>C c.741T>C c.727T>C (p.Ter243Arg) c.865-316T>C (n.865-316T>C) c.*335T>C (n.*335T>C) c.882T>C (p.Val294=) c.*717T>C (n.*717T>C) c.1013T>C (p.Leu338Ser) c.965T>C (p.Leu322Ser) c.968T>C (p.Leu323Ser) c.958-316T>C (n.958-316T>C) | |
X | g.154533118A>T | CA415234939 | G6PD | c.875T>A (p.Leu292Ter) c.878T>A (p.Leu293Ter) c.738T>A c.741T>A c.727T>A (p.Ter243Arg) c.865-316T>A (n.865-316T>A) c.*335T>A (n.*335T>A) c.882T>A (p.Val294=) c.*717T>A (n.*717T>A) c.1013T>A (p.Leu338Ter) c.965T>A (p.Leu322Ter) c.968T>A (p.Leu323Ter) c.958-316T>A (n.958-316T>A) | |
X | g.154533119A>C | CA415234942 | G6PD | c.874T>G (p.Leu292Val) c.877T>G (p.Leu293Val) c.737T>G c.740T>G c.726T>G (p.Cys242Trp) c.865-317T>G (n.865-317T>G) c.*334T>G (n.*334T>G) c.881T>G (p.Val294Gly) c.*716T>G (n.*716T>G) c.1012T>G (p.Leu338Val) c.964T>G (p.Leu322Val) c.967T>G (p.Leu323Val) c.958-317T>G (n.958-317T>G) | |
X | g.154533119A>G | CA519303758 | G6PD | c.874T>C (p.Leu292=) c.877T>C (p.Leu293=) c.737T>C c.740T>C c.726T>C (p.Cys242=) c.865-317T>C (n.865-317T>C) c.*334T>C (n.*334T>C) c.881T>C (p.Val294Ala) c.*716T>C (n.*716T>C) c.1012T>C (p.Leu338=) c.964T>C (p.Leu322=) c.967T>C (p.Leu323=) c.958-317T>C (n.958-317T>C) | |
X | g.154533119A>T | CA415234941 | G6PD | c.874T>A (p.Leu292Met) c.877T>A (p.Leu293Met) c.737T>A c.740T>A c.726T>A (p.Cys242Ter) c.865-317T>A (n.865-317T>A) c.*334T>A (n.*334T>A) c.881T>A (p.Val294Asp) c.*716T>A (n.*716T>A) c.1012T>A (p.Leu338Met) c.964T>A (p.Leu322Met) c.967T>A (p.Leu323Met) c.958-317T>A (n.958-317T>A) | |
X | g.154533120C>A | CA519303759 | G6PD | c.873G>T (p.Val291=) c.876G>T (p.Val292=) c.736G>T c.739G>T c.725G>T (p.Cys242Phe) c.865-318G>T (n.865-318G>T) c.*333G>T (n.*333G>T) c.880G>T (p.Val294Phe) c.*715G>T (n.*715G>T) c.1011G>T (p.Val337=) c.963G>T (p.Val321=) c.966G>T (p.Val322=) c.958-318G>T (n.958-318G>T) | |
X | g.154533120C>G | CA519303760 | G6PD | c.873G>C (p.Val291=) c.876G>C (p.Val292=) c.736G>C c.739G>C c.725G>C (p.Cys242Ser) c.865-318G>C (n.865-318G>C) c.*333G>C (n.*333G>C) c.880G>C (p.Val294Leu) c.*715G>C (n.*715G>C) c.1011G>C (p.Val337=) c.963G>C (p.Val321=) c.966G>C (p.Val322=) c.958-318G>C (n.958-318G>C) | |
X | g.154533120C>T | CA519303761 | G6PD | c.873G>A (p.Val291=) c.876G>A (p.Val292=) c.736G>A c.739G>A c.725G>A (p.Cys242Tyr) c.865-318G>A (n.865-318G>A) c.*333G>A (n.*333G>A) c.880G>A (p.Val294Ile) c.*715G>A (n.*715G>A) c.1011G>A (p.Val337=) c.963G>A (p.Val321=) c.966G>A (p.Val322=) c.958-318G>A (n.958-318G>A) | |
X | g.154533121A>C | CA415234943 | G6PD | c.872T>G (p.Val291Gly) c.875T>G (p.Val292Gly) c.735T>G c.738T>G c.724T>G (p.Cys242Gly) c.865-319T>G (n.865-319T>G) c.*332T>G (n.*332T>G) c.879T>G (p.Gly293=) c.*714T>G (n.*714T>G) c.1010T>G (p.Val337Gly) c.962T>G (p.Val321Gly) c.965T>G (p.Val322Gly) c.958-319T>G (n.958-319T>G) | |
X | g.154533121A>G | CA415234945 | G6PD | c.872T>C (p.Val291Ala) c.875T>C (p.Val292Ala) c.735T>C c.738T>C c.724T>C (p.Cys242Arg) c.865-319T>C (n.865-319T>C) c.*332T>C (n.*332T>C) c.879T>C (p.Gly293=) c.*714T>C (n.*714T>C) c.1010T>C (p.Val337Ala) c.962T>C (p.Val321Ala) c.965T>C (p.Val322Ala) c.958-319T>C (n.958-319T>C) | |
X | g.154533121A>T | CA415234947 | G6PD | c.872T>A (p.Val291Glu) c.875T>A (p.Val292Glu) c.735T>A c.738T>A c.724T>A (p.Cys242Ser) c.865-319T>A (n.865-319T>A) c.*332T>A (n.*332T>A) c.879T>A (p.Gly293=) c.*714T>A (n.*714T>A) c.1010T>A (p.Val337Glu) c.962T>A (p.Val321Glu) c.965T>A (p.Val322Glu) c.958-319T>A (n.958-319T>A) |