UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.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.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_154534396insCCGAC | CA2824282517 | G6PD | c.586_587insGTCGG (p.Ile196SerfsTer21) c.589_590insGTCGG (p.Ile197SerfsTer21) c.449_450insGTCGG c.452_453insGTCGG c.466_467insGTCGG (p.Ile156SerfsTer21) c.*428_*429insGTCGG (n.*428_*429insGTCGG) c.676_677insGTCGG (p.Ile226SerfsTer21) c.679_680insGTCGG (p.Ile227SerfsTer21) | |
| 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_154534396insCATCTT | CA2824282516 | G6PD | c.586_587insAAGATG (p.Ile196delinsLysAspVal) c.589_590insAAGATG (p.Ile197delinsLysAspVal) c.449_450insAAGATG c.452_453insAAGATG c.466_467insAAGATG (p.Ile156delinsLysAspVal) c.*428_*429insAAGATG (n.*428_*429insAAGATG) c.676_677insAAGATG (p.Ile226delinsLysAspVal) c.679_680insAAGATG (p.Ile227delinsLysAspVal) | |
| 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) | |
| X | g.154534396_154534397insG | CA2466724159 | G6PD | c.585_586insC (p.Ile196HisfsTer?) c.588_589insC (p.Ile197HisfsTer?) c.448_449insC c.451_452insC c.465_466insC (p.Ile156HisfsTer?) c.*427_*428insC (n.*427_*428insC) c.675_676insC (p.Ile226HisfsTer?) c.678_679insC (p.Ile227HisfsTer?) | dbSNP |
| X | g.154534396_154534397insGCGCG | CA2824282520 | G6PD | c.585_586insCGCGC (p.Ile196ArgfsTer21) c.588_589insCGCGC (p.Ile197ArgfsTer21) c.448_449insCGCGC c.451_452insCGCGC c.465_466insCGCGC (p.Ile156ArgfsTer21) c.*427_*428insCGCGC (n.*427_*428insCGCGC) c.675_676insCGCGC (p.Ile226ArgfsTer21) c.678_679insCGCGC (p.Ile227ArgfsTer21) | |
| X | g.154534397C>A | CA415237879 | G6PD | c.585G>T (p.Gln195His) c.588G>T (p.Gln196His) c.448G>T c.451G>T c.465G>T (p.Gln155His) c.*427G>T (n.*427G>T) c.675G>T (p.Gln225His) c.678G>T (p.Gln226His) | COSMIC COSMIC COSMIC |
| X | g.154534397C>G | CA415237880 | G6PD | c.585G>C (p.Gln195His) c.588G>C (p.Gln196His) c.448G>C c.451G>C c.465G>C (p.Gln155His) c.*427G>C (n.*427G>C) c.675G>C (p.Gln225His) c.678G>C (p.Gln226His) | ClinVar gnomAD v4 |
| X | g.154534397C>T | CA519305721 | G6PD | c.585G>A (p.Gln195=) c.588G>A (p.Gln196=) c.448G>A c.451G>A c.465G>A (p.Gln155=) c.*427G>A (n.*427G>A) c.675G>A (p.Gln225=) c.678G>A (p.Gln226=) | ClinVar |
| X | g.154534397dup | CA2568376168 | G6PD | c.585dup (p.Ile196AspfsTer?) c.588dup (p.Ile197AspfsTer?) c.448dup c.451dup c.465dup (p.Ile156AspfsTer?) c.*427dup (n.*427dup) c.675dup (p.Ile226AspfsTer?) c.678dup (p.Ile227AspfsTer?) | gnomAD v4 |
| X | g.154534397_154534398insGTCGGGACGCACGA | CA2521096924 | G6PD | c.584_585insTCGTGCGTCCCGAC (p.Gln195HisfsTer25) c.587_588insTCGTGCGTCCCGAC (p.Gln196HisfsTer25) c.447_448insTCGTGCGTCCCGAC c.450_451insTCGTGCGTCCCGAC c.464_465insTCGTGCGTCCCGAC (p.Gln155HisfsTer25) c.*426_*427insTCGTGCGTCCCGAC (n.*426_*427insTCGTGCGTCCCGAC) c.674_675insTCGTGCGTCCCGAC (p.Gln225HisfsTer25) c.677_678insTCGTGCGTCCCGAC (p.Gln226HisfsTer25) | |
| X | g.154534397_154534398insGTCGGGGCGCACGA | CA2521094582 | G6PD | c.584_585insTCGTGCGCCCCGAC (p.Gln195HisfsTer25) c.587_588insTCGTGCGCCCCGAC (p.Gln196HisfsTer25) c.447_448insTCGTGCGCCCCGAC c.450_451insTCGTGCGCCCCGAC c.464_465insTCGTGCGCCCCGAC (p.Gln155HisfsTer25) c.*426_*427insTCGTGCGCCCCGAC (n.*426_*427insTCGTGCGCCCCGAC) c.674_675insTCGTGCGCCCCGAC (p.Gln225HisfsTer25) c.677_678insTCGTGCGCCCCGAC (p.Gln226HisfsTer25) | |
| X | g.154534398del | CA2526447780 | G6PD | c.584del (p.Gln195ArgfsTer20) c.587del (p.Gln196ArgfsTer20) c.447del c.450del c.464del (p.Gln155ArgfsTer20) c.*426del (n.*426del) c.674del (p.Gln225ArgfsTer20) c.677del (p.Gln226ArgfsTer20) | |
| X | g.154534398T>A | CA415237882 | G6PD | c.584A>T (p.Gln195Leu) c.587A>T (p.Gln196Leu) c.447A>T c.450A>T c.464A>T (p.Gln155Leu) c.*426A>T (n.*426A>T) c.674A>T (p.Gln225Leu) c.677A>T (p.Gln226Leu) | |
| X | g.154534398T>C | CA415237883 | G6PD | c.584A>G (p.Gln195Arg) c.587A>G (p.Gln196Arg) c.447A>G c.450A>G c.464A>G (p.Gln155Arg) c.*426A>G (n.*426A>G) c.674A>G (p.Gln225Arg) c.677A>G (p.Gln226Arg) | ClinVar |