| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154534390G>A | CA120998 | G6PD | c.592C>T (p.Arg198Cys) c.595C>T (p.Arg199Cys) c.455C>T c.458C>T c.472C>T (p.Arg158Cys) c.*434C>T (n.*434C>T) c.682C>T (p.Arg228Cys) c.685C>T (p.Arg229Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.[154534390G>A;154534438G>A;154535336G>C] | CA033261 | G6PD | c.[317C>G;544C>T;592C>T] (p.[Ser106Cys;Arg182Trp;Arg198Cys]) c.[317C>G;547C>T;595C>T] (p.[Ser106Cys;Arg183Trp;Arg199Cys]) c.[180C>G;407C>T;455C>T] c.[180C>G;410C>T;458C>T] c.[197C>G;424C>T;472C>T] (p.[Ser66Cys;Arg142Trp;Arg158Cys]) c.[*159C>G;*386C>T;*434C>T] (n.[*159C>G;*386C>T;*434C>T]) c.[407C>G;634C>T;682C>T] (p.[Ser136Cys;Arg212Trp;Arg228Cys]) c.[407C>G;637C>T;685C>T] (p.[Ser136Cys;Arg213Trp;Arg229Cys]) | ClinVar |
| X | g.154534390G>C | CA415237853 | G6PD | c.592C>G (p.Arg198Gly) c.595C>G (p.Arg199Gly) c.455C>G c.458C>G c.472C>G (p.Arg158Gly) c.*434C>G (n.*434C>G) c.682C>G (p.Arg228Gly) c.685C>G (p.Arg229Gly) | |
| X | g.154534390G= | CA2466724151 | G6PD | c.592C= (p.Arg198=) c.595C= (p.Arg199=) c.455C= c.458C= c.472C= (p.Arg158=) c.*434C= (n.*434C=) c.682C= (p.Arg228=) c.685C= (p.Arg229=) | |
| X | g.154534390G>T | CA415237855 | G6PD | c.592C>A (p.Arg198Ser) c.595C>A (p.Arg199Ser) c.455C>A c.458C>A c.472C>A (p.Arg158Ser) c.*434C>A (n.*434C>A) c.682C>A (p.Arg228Ser) c.685C>A (p.Arg229Ser) | ClinVar |
| X | g.154534390_154534391insATAG | CA2695146719 | G6PD | c.592_593insTATC (p.Arg198LeufsTer?) c.595_596insTATC (p.Arg199LeufsTer?) c.455_456insTATC c.458_459insTATC c.472_473insTATC (p.Arg158LeufsTer?) c.*434_*435insTATC (n.*434_*435insTATC) c.682_683insTATC (p.Arg228LeufsTer?) c.685_686insTATC (p.Arg229LeufsTer?) | gnomAD v4 |
| X | g.154534390_154534391insTCCCACGAG | CA2549309149 | G6PD | c.592_593insTCGTGGGAC (p.Tyr197_Arg198insLeuValGly) c.595_596insTCGTGGGAC (p.Tyr198_Arg199insLeuValGly) c.455_456insTCGTGGGAC c.458_459insTCGTGGGAC c.472_473insTCGTGGGAC (p.Tyr157_Arg158insLeuValGly) c.*434_*435insTCGTGGGAC (n.*434_*435insTCGTGGGAC) c.682_683insTCGTGGGAC (p.Tyr227_Arg228insLeuValGly) c.685_686insTCGTGGGAC (p.Tyr228_Arg229insLeuValGly) | |
| X | g.154534390_154534395del | CA2532285425 | G6PD | c.587_592del (p.Ile196_Arg198delinsSer) c.590_595del (p.Ile197_Arg199delinsSer) c.450_455del c.453_458del c.467_472del (p.Ile156_Arg158delinsSer) c.*429_*434del (n.*429_*434del) c.677_682del (p.Ile226_Arg228delinsSer) c.680_685del (p.Ile227_Arg229delinsSer) | |
| X | g.154534391G>A | CA519305702 | G6PD | c.591C>T (p.Tyr197=) c.594C>T (p.Tyr198=) c.454C>T c.457C>T c.471C>T (p.Tyr157=) c.*433C>T (n.*433C>T) c.681C>T (p.Tyr227=) c.684C>T (p.Tyr228=) | dbSNP gnomAD v4 |
| X | g.154534391G>C | CA415237856 | G6PD | c.591C>G (p.Tyr197Ter) c.594C>G (p.Tyr198Ter) c.454C>G c.457C>G c.471C>G (p.Tyr157Ter) c.*433C>G (n.*433C>G) c.681C>G (p.Tyr227Ter) c.684C>G (p.Tyr228Ter) | |
| X | g.154534391G= | CA2466724152 | G6PD | c.591C= (p.Tyr197=) c.594C= (p.Tyr198=) c.454C= c.457C= c.471C= (p.Tyr157=) c.*433C= (n.*433C=) c.681C= (p.Tyr227=) c.684C= (p.Tyr228=) | |
| X | g.154534391G>T | CA415237857 | G6PD | c.591C>A (p.Tyr197Ter) c.594C>A (p.Tyr198Ter) c.454C>A c.457C>A c.471C>A (p.Tyr157Ter) c.*433C>A (n.*433C>A) c.681C>A (p.Tyr227Ter) c.684C>A (p.Tyr228Ter) | |
| X | g.154534391_154534392insAA | CA2534438072 | G6PD | c.590_591insTT (p.Arg198SerfsTer18) c.593_594insTT (p.Arg199SerfsTer18) c.453_454insTT c.456_457insTT c.470_471insTT (p.Arg158SerfsTer18) c.*432_*433insTT (n.*432_*433insTT) c.680_681insTT (p.Arg228SerfsTer18) c.683_684insTT (p.Arg229SerfsTer18) | gnomAD v4 |
| X | g.154534391_154534392insAACACC | CA2566756447 | G6PD | c.590_591insGGTGTT (p.Tyr197Ter) c.593_594insGGTGTT (p.Tyr198Ter) c.453_454insGGTGTT c.456_457insGGTGTT c.470_471insGGTGTT (p.Tyr157Ter) c.*432_*433insGGTGTT (n.*432_*433insGGTGTT) c.680_681insGGTGTT (p.Tyr227Ter) c.683_684insGGTGTT (p.Tyr228Ter) | |
| X | g.154534392T>A | CA415237860 | G6PD | c.590A>T (p.Tyr197Phe) c.593A>T (p.Tyr198Phe) c.453A>T c.456A>T c.470A>T (p.Tyr157Phe) c.*432A>T (n.*432A>T) c.680A>T (p.Tyr227Phe) c.683A>T (p.Tyr228Phe) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154534392T>C | CA415237861 | G6PD | c.590A>G (p.Tyr197Cys) c.593A>G (p.Tyr198Cys) c.453A>G c.456A>G c.470A>G (p.Tyr157Cys) c.*432A>G (n.*432A>G) c.680A>G (p.Tyr227Cys) c.683A>G (p.Tyr228Cys) | |
| X | g.154534392T>G | CA415237863 | G6PD | c.590A>C (p.Tyr197Ser) c.593A>C (p.Tyr198Ser) c.453A>C c.456A>C c.470A>C (p.Tyr157Ser) c.*432A>C (n.*432A>C) c.680A>C (p.Tyr227Ser) c.683A>C (p.Tyr228Ser) | |
| X | g.154534392T= | CA2466724153 | G6PD | c.590A= (p.Tyr197=) c.593A= (p.Tyr198=) c.453A= c.456A= c.470A= (p.Tyr157=) c.*432A= (n.*432A=) c.680A= (p.Tyr227=) c.683A= (p.Tyr228=) | |
| X | g.154534392_154534393insCATCG | CA2549309150 | G6PD | c.589_590insCGATG (p.Tyr197SerfsTer20) c.592_593insCGATG (p.Tyr198SerfsTer20) c.452_453insCGATG c.455_456insCGATG c.469_470insCGATG (p.Tyr157SerfsTer20) c.*431_*432insCGATG (n.*431_*432insCGATG) c.679_680insCGATG (p.Tyr227SerfsTer20) c.682_683insCGATG (p.Tyr228SerfsTer20) | |
| X | g.154534392_154534393insCGGGGGGCGAGA | CA2538894831 | G6PD | c.589_590insTCTCGCCCCCCG (p.Tyr197delinsPheSerProProAsp) c.592_593insTCTCGCCCCCCG (p.Tyr198delinsPheSerProProAsp) c.452_453insTCTCGCCCCCCG c.455_456insTCTCGCCCCCCG c.469_470insTCTCGCCCCCCG (p.Tyr157delinsPheSerProProAsp) c.*431_*432insTCTCGCCCCCCG (n.*431_*432insTCTCGCCCCCCG) c.679_680insTCTCGCCCCCCG (p.Tyr227delinsPheSerProProAsp) c.682_683insTCTCGCCCCCCG (p.Tyr228delinsPheSerProProAsp) | |
| X | g.154534392_154534393insCGGGGGGTGAGA | CA2530508131 | G6PD | c.589_590insTCTCACCCCCCG (p.Tyr197delinsPheSerProProAsp) c.592_593insTCTCACCCCCCG (p.Tyr198delinsPheSerProProAsp) c.452_453insTCTCACCCCCCG c.455_456insTCTCACCCCCCG c.469_470insTCTCACCCCCCG (p.Tyr157delinsPheSerProProAsp) c.*431_*432insTCTCACCCCCCG (n.*431_*432insTCTCACCCCCCG) c.679_680insTCTCACCCCCCG (p.Tyr227delinsPheSerProProAsp) c.682_683insTCTCACCCCCCG (p.Tyr228delinsPheSerProProAsp) | |
| X | g.154534392_154534393insGCGGTTTTCCGGAA | CA2695146738 | G6PD | c.589_590insTTCCGGAAAACCGC (p.Tyr197PhefsTer23) c.592_593insTTCCGGAAAACCGC (p.Tyr198PhefsTer23) c.452_453insTTCCGGAAAACCGC c.455_456insTTCCGGAAAACCGC c.469_470insTTCCGGAAAACCGC (p.Tyr157PhefsTer23) c.*431_*432insTTCCGGAAAACCGC (n.*431_*432insTTCCGGAAAACCGC) c.679_680insTTCCGGAAAACCGC (p.Tyr227PhefsTer23) c.682_683insTTCCGGAAAACCGC (p.Tyr228PhefsTer23) | gnomAD v4 |
| X | g.154534393del | CA2579742094 | G6PD | c.589del (p.Tyr197ThrfsTer18) c.592del (p.Tyr198ThrfsTer18) c.452del c.455del c.469del (p.Tyr157ThrfsTer18) c.*431del (n.*431del) c.679del (p.Tyr227ThrfsTer18) c.682del (p.Tyr228ThrfsTer18) | |
| X | g.154534393A>C | CA415237864 | G6PD | c.589T>G (p.Tyr197Asp) c.592T>G (p.Tyr198Asp) c.452T>G c.455T>G c.469T>G (p.Tyr157Asp) c.*431T>G (n.*431T>G) c.679T>G (p.Tyr227Asp) c.682T>G (p.Tyr228Asp) | |
| X | g.154534393A>G | CA415237866 | G6PD | c.589T>C (p.Tyr197His) c.592T>C (p.Tyr198His) c.452T>C c.455T>C c.469T>C (p.Tyr157His) c.*431T>C (n.*431T>C) c.679T>C (p.Tyr227His) c.682T>C (p.Tyr228His) | |
| X | g.154534393A>T | CA415237867 | G6PD | c.589T>A (p.Tyr197Asn) c.592T>A (p.Tyr198Asn) c.452T>A c.455T>A c.469T>A (p.Tyr157Asn) c.*431T>A (n.*431T>A) c.679T>A (p.Tyr227Asn) c.682T>A (p.Tyr228Asn) | |
| X | g.154534393_154534404delinsAGATCTGGTCCT | CA2466724154 | G6PD | c.578_589delinsAGGACCAGATCT (p.Glu193=) c.581_592delinsAGGACCAGATCT (p.Glu194=) c.441_452delinsAGGACCAGATCT c.444_455delinsAGGACCAGATCT c.458_469delinsAGGACCAGATCT (p.Glu153=) c.*420_*431delinsAGGACCAGATCT (n.*420_*431delinsAGGACCAGATCT) c.668_679delinsAGGACCAGATCT (p.Glu223=) c.671_682delinsAGGACCAGATCT (p.Glu224=) | |
| X | g.154534394G>A | CA519305711 | G6PD | c.588C>T (p.Ile196=) c.591C>T (p.Ile197=) c.451C>T c.454C>T c.468C>T (p.Ile156=) c.*430C>T (n.*430C>T) c.678C>T (p.Ile226=) c.681C>T (p.Ile227=) | dbSNP |
| X | g.154534394G>C | CA415237868 | G6PD | c.588C>G (p.Ile196Met) c.591C>G (p.Ile197Met) c.451C>G c.454C>G c.468C>G (p.Ile156Met) c.*430C>G (n.*430C>G) c.678C>G (p.Ile226Met) c.681C>G (p.Ile227Met) | gnomAD v4 |
| X | g.154534394G= | CA2466724156 | G6PD | c.588C= (p.Ile196=) c.591C= (p.Ile197=) c.451C= c.454C= c.468C= (p.Ile156=) c.*430C= (n.*430C=) c.678C= (p.Ile226=) c.681C= (p.Ile227=) | |
| X | g.154534394G>T | CA519305713 | G6PD | c.588C>A (p.Ile196=) c.591C>A (p.Ile197=) c.451C>A c.454C>A c.468C>A (p.Ile156=) c.*430C>A (n.*430C>A) c.678C>A (p.Ile226=) c.681C>A (p.Ile227=) | |
| X | g.154534395_154534396insCGCGGCTTTCGGGAAAGAACCGCGCCACGGCATCATTGACCCGGCGTGAGGACTCAAGGTCGTGACCGA | CA2695146745 | G6PD | c.588_589insGGTCACGACCTTGAGTCCTCACGCCGGGTCAATGATGCCGTGGCGCGGTTCTTTCCCGAAAGCCGCGTC (p.Ile196_Tyr197insGlyHisAspLeuGluSerSerArgArgValAsnAspAlaValAlaArgPhePheProGluSerArgVal) c.591_592insGGTCACGACCTTGAGTCCTCACGCCGGGTCAATGATGCCGTGGCGCGGTTCTTTCCCGAAAGCCGCGTC (p.Ile197_Tyr198insGlyHisAspLeuGluSerSerArgArgValAsnAspAlaValAlaArgPhePheProGluSerArgVal) c.451_452insGGTCACGACCTTGAGTCCTCACGCCGGGTCAATGATGCCGTGGCGCGGTTCTTTCCCGAAAGCCGCGTC c.454_455insGGTCACGACCTTGAGTCCTCACGCCGGGTCAATGATGCCGTGGCGCGGTTCTTTCCCGAAAGCCGCGTC c.468_469insGGTCACGACCTTGAGTCCTCACGCCGGGTCAATGATGCCGTGGCGCGGTTCTTTCCCGAAAGCCGCGTC (p.Ile156_Tyr157insGlyHisAspLeuGluSerSerArgArgValAsnAspAlaValAlaArgPhePheProGluSerArgVal) c.*430_*431insGGTCACGACCTTGAGTCCTCACGCCGGGTCAATGATGCCGTGGCGCGGTTCTTTCCCGAAAGCCGCGTC (n.*430_*431insGGTCACGACCTTGAGTCCTCACGCCGGGTCAATGATGCCGTGGCGCGGTTCTTTCCCGAAAGCCGCGTC) c.678_679insGGTCACGACCTTGAGTCCTCACGCCGGGTCAATGATGCCGTGGCGCGGTTCTTTCCCGAAAGCCGCGTC (p.Ile226_Tyr227insGlyHisAspLeuGluSerSerArgArgValAsnAspAlaValAlaArgPhePheProGluSerArgVal) c.681_682insGGTCACGACCTTGAGTCCTCACGCCGGGTCAATGATGCCGTGGCGCGGTTCTTTCCCGAAAGCCGCGTC (p.Ile227_Tyr228insGlyHisAspLeuGluSerSerArgArgValAsnAspAlaValAlaArgPhePheProGluSerArgVal) | gnomAD v4 |
| X | g.154534394_154534404del | CA2466724155 | G6PD | c.578_588del (p.Glu193ValfsTer?) c.581_591del (p.Glu194ValfsTer?) c.441_451del c.444_454del c.458_468del (p.Glu153ValfsTer?) c.*420_*430del (n.*420_*430del) c.668_678del (p.Glu223ValfsTer?) c.671_681del (p.Glu224ValfsTer?) | dbSNP |
| X | g.154534394_154534395insGTGCGGTTTTCCGGGAAA | CA2695146748 | G6PD | c.587_588insTTTCCCGGAAAACCGCAC (p.Ile196_Tyr197insPheProGluAsnArgThr) c.590_591insTTTCCCGGAAAACCGCAC (p.Ile197_Tyr198insPheProGluAsnArgThr) c.450_451insTTTCCCGGAAAACCGCAC c.453_454insTTTCCCGGAAAACCGCAC c.467_468insTTTCCCGGAAAACCGCAC (p.Ile156_Tyr157insPheProGluAsnArgThr) c.*429_*430insTTTCCCGGAAAACCGCAC (n.*429_*430insTTTCCCGGAAAACCGCAC) c.677_678insTTTCCCGGAAAACCGCAC (p.Ile226_Tyr227insPheProGluAsnArgThr) c.680_681insTTTCCCGGAAAACCGCAC (p.Ile227_Tyr228insPheProGluAsnArgThr) | gnomAD v4 |
| X | g.154534394_154534395insGTGCGGTTTTCCGGGAAAAACTGCGCCACGGCGTCATTGACCTTGCGCGACGACTCCAAGTCCGAACCGATGGGTTTTTCCAGCACCACGCGGGT | CA2572547215 | G6PD | c.587_588insACCCGCGTGGTGCTGGAAAAACCCATCGGTTCGGACTTGGAGTCGTCGCGCAAGGTCAATGACGCCGTGGCGCAGTTTTTCCCGGAAAACCGCAC (p.Tyr197ProfsTer50) c.590_591insACCCGCGTGGTGCTGGAAAAACCCATCGGTTCGGACTTGGAGTCGTCGCGCAAGGTCAATGACGCCGTGGCGCAGTTTTTCCCGGAAAACCGCAC (p.Tyr198ProfsTer50) c.450_451insACCCGCGTGGTGCTGGAAAAACCCATCGGTTCGGACTTGGAGTCGTCGCGCAAGGTCAATGACGCCGTGGCGCAGTTTTTCCCGGAAAACCGCAC c.453_454insACCCGCGTGGTGCTGGAAAAACCCATCGGTTCGGACTTGGAGTCGTCGCGCAAGGTCAATGACGCCGTGGCGCAGTTTTTCCCGGAAAACCGCAC c.467_468insACCCGCGTGGTGCTGGAAAAACCCATCGGTTCGGACTTGGAGTCGTCGCGCAAGGTCAATGACGCCGTGGCGCAGTTTTTCCCGGAAAACCGCAC (p.Tyr157ProfsTer50) c.*429_*430insACCCGCGTGGTGCTGGAAAAACCCATCGGTTCGGACTTGGAGTCGTCGCGCAAGGTCAATGACGCCGTGGCGCAGTTTTTCCCGGAAAACCGCAC (n.*429_*430insACCCGCGTGGTGCTGGAAAAACCCATCGGTTCGGACTTGGAGTCGTCGCGCAAGGTCAATGACGCCGTGGCGCAGTTTTTCCCGGAAAACCGCAC) c.677_678insACCCGCGTGGTGCTGGAAAAACCCATCGGTTCGGACTTGGAGTCGTCGCGCAAGGTCAATGACGCCGTGGCGCAGTTTTTCCCGGAAAACCGCAC (p.Tyr227ProfsTer50) c.680_681insACCCGCGTGGTGCTGGAAAAACCCATCGGTTCGGACTTGGAGTCGTCGCGCAAGGTCAATGACGCCGTGGCGCAGTTTTTCCCGGAAAACCGCAC (p.Tyr228ProfsTer50) | |
| X | g.154534395A= | CA2466724157 | G6PD | c.587T= (p.Ile196=) c.590T= (p.Ile197=) c.450T= c.453T= c.467T= (p.Ile156=) c.*429T= (n.*429T=) c.677T= (p.Ile226=) c.680T= (p.Ile227=) | |
| X | g.154534395A>C | CA415237871 | G6PD | c.587T>G (p.Ile196Ser) c.590T>G (p.Ile197Ser) c.450T>G c.453T>G c.467T>G (p.Ile156Ser) c.*429T>G (n.*429T>G) c.677T>G (p.Ile226Ser) c.680T>G (p.Ile227Ser) | |
| X | g.154534395A>G | CA415237870 | G6PD | c.587T>C (p.Ile196Thr) c.590T>C (p.Ile197Thr) c.450T>C c.453T>C c.467T>C (p.Ile156Thr) c.*429T>C (n.*429T>C) c.677T>C (p.Ile226Thr) c.680T>C (p.Ile227Thr) | dbSNP |
| X | g.154534395A>T | CA415237873 | G6PD | c.587T>A (p.Ile196Asn) c.590T>A (p.Ile197Asn) c.450T>A c.453T>A c.467T>A (p.Ile156Asn) c.*429T>A (n.*429T>A) c.677T>A (p.Ile226Asn) c.680T>A (p.Ile227Asn) | |
| X | g.154534395_154534396insCA | CA2555592931 | G6PD | c.587_588insGT (p.Ile196MetfsTer20) c.590_591insGT (p.Ile197MetfsTer20) c.450_451insGT c.453_454insGT c.467_468insGT (p.Ile156MetfsTer20) c.*429_*430insGT (n.*429_*430insGT) c.677_678insGT (p.Ile226MetfsTer20) c.680_681insGT (p.Ile227MetfsTer20) | |
| X | g.154534395_154534396insCATCA | CA2554557075 | G6PD | c.587_588insGATGT (p.Ile196MetfsTer21) c.590_591insGATGT (p.Ile197MetfsTer21) c.450_451insGATGT c.453_454insGATGT c.467_468insGATGT (p.Ile156MetfsTer21) c.*429_*430insGATGT (n.*429_*430insGATGT) c.677_678insGATGT (p.Ile226MetfsTer21) c.680_681insGATGT (p.Ile227MetfsTer21) | |
| X | g.154534395_154534396insCG | CA2503637833 | G6PD | c.586_587insCG (p.Ile196ThrfsTer20) c.589_590insCG (p.Ile197ThrfsTer20) c.449_450insCG c.452_453insCG c.466_467insCG (p.Ile156ThrfsTer20) c.*428_*429insCG (n.*428_*429insCG) c.676_677insCG (p.Ile226ThrfsTer20) c.679_680insCG (p.Ile227ThrfsTer20) | |
| X | g.154534395_154534396insCGTCG | CA2535591227 | G6PD | c.586_587insCGACG (p.Ile196ThrfsTer21) c.589_590insCGACG (p.Ile197ThrfsTer21) c.449_450insCGACG c.452_453insCGACG c.466_467insCGACG (p.Ile156ThrfsTer21) c.*428_*429insCGACG (n.*428_*429insCGACG) c.676_677insCGACG (p.Ile226ThrfsTer21) c.679_680insCGACG (p.Ile227ThrfsTer21) | |
| X | g.154534395_154534396insCGTCGTCGGGGCGCACGATGCGTCCCACGAGGGCATCGAGCTCCCTGGCGCTGGAGCGGTTGTG | CA2525423896 | G6PD | c.586_587insCACAACCGCTCCAGCGCCAGGGAGCTCGATGCCCTCGTGGGACGCATCGTGCGCCCCGACGACG (p.Ile196ThrfsTer?) c.589_590insCACAACCGCTCCAGCGCCAGGGAGCTCGATGCCCTCGTGGGACGCATCGTGCGCCCCGACGACG (p.Ile197ThrfsTer?) c.449_450insCACAACCGCTCCAGCGCCAGGGAGCTCGATGCCCTCGTGGGACGCATCGTGCGCCCCGACGACG c.452_453insCACAACCGCTCCAGCGCCAGGGAGCTCGATGCCCTCGTGGGACGCATCGTGCGCCCCGACGACG c.466_467insCACAACCGCTCCAGCGCCAGGGAGCTCGATGCCCTCGTGGGACGCATCGTGCGCCCCGACGACG (p.Ile156ThrfsTer?) c.*428_*429insCACAACCGCTCCAGCGCCAGGGAGCTCGATGCCCTCGTGGGACGCATCGTGCGCCCCGACGACG (n.*428_*429insCACAACCGCTCCAGCGCCAGGGAGCTCGATGCCCTCGTGGGACGCATCGTGCGCCCCGACGACG) c.676_677insCACAACCGCTCCAGCGCCAGGGAGCTCGATGCCCTCGTGGGACGCATCGTGCGCCCCGACGACG (p.Ile226ThrfsTer?) c.679_680insCACAACCGCTCCAGCGCCAGGGAGCTCGATGCCCTCGTGGGACGCATCGTGCGCCCCGACGACG (p.Ile227ThrfsTer?) | |
| X | g.154534396del | CA1138582993 | G6PD | c.586del (p.Ile196SerfsTer19) c.589del (p.Ile197SerfsTer19) c.449del c.452del c.466del (p.Ile156SerfsTer19) c.*428del (n.*428del) c.676del (p.Ile226SerfsTer19) c.679del (p.Ile227SerfsTer19) | gnomAD v3 gnomAD v4 |
| X | g.154534396T>A | CA415237875 | G6PD | c.586A>T (p.Ile196Phe) c.589A>T (p.Ile197Phe) c.449A>T c.452A>T c.466A>T (p.Ile156Phe) c.*428A>T (n.*428A>T) c.676A>T (p.Ile226Phe) c.679A>T (p.Ile227Phe) | ClinVar gnomAD v4 |
| X | g.154534396T>C | CA415237876 | G6PD | c.586A>G (p.Ile196Val) c.589A>G (p.Ile197Val) c.449A>G c.452A>G c.466A>G (p.Ile156Val) c.*428A>G (n.*428A>G) c.676A>G (p.Ile226Val) c.679A>G (p.Ile227Val) | |
| X | g.154534396T>G | CA415237878 | G6PD | c.586A>C (p.Ile196Leu) c.589A>C (p.Ile197Leu) c.449A>C c.452A>C c.466A>C (p.Ile156Leu) c.*428A>C (n.*428A>C) c.676A>C (p.Ile226Leu) c.679A>C (p.Ile227Leu) | |
| X | g.154534396T= | CA2466724158 | G6PD | c.586A= (p.Ile196=) c.589A= (p.Ile197=) c.449A= c.452A= c.466A= (p.Ile156=) c.*428A= (n.*428A=) c.676A= (p.Ile226=) c.679A= (p.Ile227=) | |
| X | g.154534396_154534401del | CA2552580631 | G6PD | c.581_586del (p.Asp194_Ile196delinsVal) c.584_589del (p.Asp195_Ile197delinsVal) c.444_449del c.447_452del c.461_466del (p.Asp154_Ile156delinsVal) c.*423_*428del (n.*423_*428del) c.671_676del (p.Asp224_Ile226delinsVal) c.674_679del (p.Asp225_Ile227delinsVal) |