| 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.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.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.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) | |
| 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.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 |
| X | g.154534398T>G | CA415237885 | G6PD | c.584A>C (p.Gln195Pro) c.587A>C (p.Gln196Pro) c.447A>C c.450A>C c.464A>C (p.Gln155Pro) c.*426A>C (n.*426A>C) c.674A>C (p.Gln225Pro) c.677A>C (p.Gln226Pro) | |
| X | g.154534398dup | CA2566569483 | G6PD | c.584dup (p.Ile196AspfsTer?) c.587dup (p.Ile197AspfsTer?) c.447dup c.450dup c.464dup (p.Ile156AspfsTer?) c.*426dup (n.*426dup) c.674dup (p.Ile226AspfsTer?) c.677dup (p.Ile227AspfsTer?) | |
| X | g.154534398_154534399del | CA519305724 | G6PD | c.583_584del (p.Gln195AspfsTer?) c.586_587del (p.Gln196AspfsTer?) c.446_447del c.449_450del c.463_464del (p.Gln155AspfsTer?) c.*425_*426del (n.*425_*426del) c.673_674del (p.Gln225AspfsTer?) c.676_677del (p.Gln226AspfsTer?) | gnomAD v3 gnomAD v4 |
| X | g.154534399G>A | CA415237887 | G6PD | c.583C>T (p.Gln195Ter) c.586C>T (p.Gln196Ter) c.446C>T c.449C>T c.463C>T (p.Gln155Ter) c.*425C>T (n.*425C>T) c.673C>T (p.Gln225Ter) c.676C>T (p.Gln226Ter) | |
| X | g.154534399G>C | CA415237888 | G6PD | c.583C>G (p.Gln195Glu) c.586C>G (p.Gln196Glu) c.446C>G c.449C>G c.463C>G (p.Gln155Glu) c.*425C>G (n.*425C>G) c.673C>G (p.Gln225Glu) c.676C>G (p.Gln226Glu) | |
| X | g.154534399G>T | CA415237889 | G6PD | c.583C>A (p.Gln195Lys) c.586C>A (p.Gln196Lys) c.446C>A c.449C>A c.463C>A (p.Gln155Lys) c.*425C>A (n.*425C>A) c.673C>A (p.Gln225Lys) c.676C>A (p.Gln226Lys) | |
| X | g.154534399_154534400insTTATAG | CA2522850875 | G6PD | c.583_584insTATAAC (p.Gln195LeufsTer2) c.586_587insTATAAC (p.Gln196LeufsTer2) c.446_447insTATAAC c.449_450insTATAAC c.463_464insTATAAC (p.Gln155LeufsTer2) c.*425_*426insTATAAC (n.*425_*426insTATAAC) c.673_674insTATAAC (p.Gln225LeufsTer2) c.676_677insTATAAC (p.Gln226LeufsTer2) | |
| X | g.154534399_154534400insC | CA2543675241 | G6PD | c.582_583insG (p.Gln195AlafsTer?) c.585_586insG (p.Gln196AlafsTer?) c.445_446insG c.448_449insG c.462_463insG (p.Gln155AlafsTer?) c.*424_*425insG (n.*424_*425insG) c.672_673insG (p.Gln225AlafsTer?) c.675_676insG (p.Gln226AlafsTer?) | gnomAD v4 |
| X | g.154534399_154534400insAAGAC | CA2500618124 | G6PD | c.582_583insGTCTT (p.Gln195ValfsTer22) c.585_586insGTCTT (p.Gln196ValfsTer22) c.445_446insGTCTT c.448_449insGTCTT c.462_463insGTCTT (p.Gln155ValfsTer22) c.*424_*425insGTCTT (n.*424_*425insGTCTT) c.672_673insGTCTT (p.Gln225ValfsTer22) c.675_676insGTCTT (p.Gln226ValfsTer22) | |
| X | g.154534399_154534400insCACGATAC | CA2508425586 | G6PD | c.582_583insGTATCGTG (p.Gln195ValfsTer23) c.585_586insGTATCGTG (p.Gln196ValfsTer23) c.445_446insGTATCGTG c.448_449insGTATCGTG c.462_463insGTATCGTG (p.Gln155ValfsTer23) c.*424_*425insGTATCGTG (n.*424_*425insGTATCGTG) c.672_673insGTATCGTG (p.Gln225ValfsTer23) c.675_676insGTATCGTG (p.Gln226ValfsTer23) | |
| X | g.154534399_154534400insCGCCACGGCGTCGTTGACCTT | CA2695146784 | G6PD | c.582_583insAAGGTCAACGACGCCGTGGCG (p.Asp194_Gln195insLysValAsnAspAlaValAla) c.585_586insAAGGTCAACGACGCCGTGGCG (p.Asp195_Gln196insLysValAsnAspAlaValAla) c.445_446insAAGGTCAACGACGCCGTGGCG c.448_449insAAGGTCAACGACGCCGTGGCG c.462_463insAAGGTCAACGACGCCGTGGCG (p.Asp154_Gln155insLysValAsnAspAlaValAla) c.*424_*425insAAGGTCAACGACGCCGTGGCG (n.*424_*425insAAGGTCAACGACGCCGTGGCG) c.672_673insAAGGTCAACGACGCCGTGGCG (p.Asp224_Gln225insLysValAsnAspAlaValAla) c.675_676insAAGGTCAACGACGCCGTGGCG (p.Asp225_Gln226insLysValAsnAspAlaValAla) | gnomAD v4 |
| X | g.154534400G>A | CA519305730 | G6PD | c.582C>T (p.Asp194=) c.585C>T (p.Asp195=) c.445C>T c.448C>T c.462C>T (p.Asp154=) c.*424C>T (n.*424C>T) c.672C>T (p.Asp224=) c.675C>T (p.Asp225=) | ClinVar |
| X | g.154534400G>C | CA10566211 | G6PD | c.582C>G (p.Asp194Glu) c.585C>G (p.Asp195Glu) c.445C>G c.448C>G c.462C>G (p.Asp154Glu) c.*424C>G (n.*424C>G) c.672C>G (p.Asp224Glu) c.675C>G (p.Asp225Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154534400G= | CA2466724160 | G6PD | c.582C= (p.Asp194=) c.585C= (p.Asp195=) c.445C= c.448C= c.462C= (p.Asp154=) c.*424C= (n.*424C=) c.672C= (p.Asp224=) c.675C= (p.Asp225=) | |
| X | g.154534400G>T | CA415237891 | G6PD | c.582C>A (p.Asp194Glu) c.585C>A (p.Asp195Glu) c.445C>A c.448C>A c.462C>A (p.Asp154Glu) c.*424C>A (n.*424C>A) c.672C>A (p.Asp224Glu) c.675C>A (p.Asp225Glu) | |
| X | g.154534400_154534401insACGCACGATACG | CA2567188734 | G6PD | c.582_583insGTATCGTGCGTC (p.Asp194_Gln195insValSerCysVal) c.585_586insGTATCGTGCGTC (p.Asp195_Gln196insValSerCysVal) c.445_446insGTATCGTGCGTC c.448_449insGTATCGTGCGTC c.462_463insGTATCGTGCGTC (p.Asp154_Gln155insValSerCysVal) c.*424_*425insGTATCGTGCGTC (n.*424_*425insGTATCGTGCGTC) c.672_673insGTATCGTGCGTC (p.Asp224_Gln225insValSerCysVal) c.675_676insGTATCGTGCGTC (p.Asp225_Gln226insValSerCysVal) | |
| X | g.154534400_154534401insACGCACGATCCG | CA2548367023 | G6PD | c.582_583insGGATCGTGCGTC (p.Asp194_Gln195insGlySerCysVal) c.585_586insGGATCGTGCGTC (p.Asp195_Gln196insGlySerCysVal) c.445_446insGGATCGTGCGTC c.448_449insGGATCGTGCGTC c.462_463insGGATCGTGCGTC (p.Asp154_Gln155insGlySerCysVal) c.*424_*425insGGATCGTGCGTC (n.*424_*425insGGATCGTGCGTC) c.672_673insGGATCGTGCGTC (p.Asp224_Gln225insGlySerCysVal) c.675_676insGGATCGTGCGTC (p.Asp225_Gln226insGlySerCysVal) | |
| X | g.154534400_154534401insCTTTCTTTGAAGTAGCGGGCGACATCGGTATTGATTTGTTGGGAAGAGGCGAGGTCGGTACCCAGCGGTTTTTCCAAAACGACGCGCGCGTTGTCGGCG | CA2520125337 | G6PD | c.582_583insGCCGACAACGCGCGCGTCGTTTTGGAAAAACCGCTGGGTACCGACCTCGCCTCTTCCCAACAAATCAATACCGATGTCGCCCGCTACTTCAAAGAAAGC (p.Asp194_Gln195insAlaAspAsnAlaArgValValLeuGluLysProLeuGlyThrAspLeuAlaSerSerGlnGlnIleAsnThrAspValAlaArgTyrPheLysGluSer) c.585_586insGCCGACAACGCGCGCGTCGTTTTGGAAAAACCGCTGGGTACCGACCTCGCCTCTTCCCAACAAATCAATACCGATGTCGCCCGCTACTTCAAAGAAAGC (p.Asp195_Gln196insAlaAspAsnAlaArgValValLeuGluLysProLeuGlyThrAspLeuAlaSerSerGlnGlnIleAsnThrAspValAlaArgTyrPheLysGluSer) c.445_446insGCCGACAACGCGCGCGTCGTTTTGGAAAAACCGCTGGGTACCGACCTCGCCTCTTCCCAACAAATCAATACCGATGTCGCCCGCTACTTCAAAGAAAGC c.448_449insGCCGACAACGCGCGCGTCGTTTTGGAAAAACCGCTGGGTACCGACCTCGCCTCTTCCCAACAAATCAATACCGATGTCGCCCGCTACTTCAAAGAAAGC c.462_463insGCCGACAACGCGCGCGTCGTTTTGGAAAAACCGCTGGGTACCGACCTCGCCTCTTCCCAACAAATCAATACCGATGTCGCCCGCTACTTCAAAGAAAGC (p.Asp154_Gln155insAlaAspAsnAlaArgValValLeuGluLysProLeuGlyThrAspLeuAlaSerSerGlnGlnIleAsnThrAspValAlaArgTyrPheLysGluSer) c.*424_*425insGCCGACAACGCGCGCGTCGTTTTGGAAAAACCGCTGGGTACCGACCTCGCCTCTTCCCAACAAATCAATACCGATGTCGCCCGCTACTTCAAAGAAAGC (n.*424_*425insGCCGACAACGCGCGCGTCGTTTTGGAAAAACCGCTGGGTACCGACCTCGCCTCTTCCCAACAAATCAATACCGATGTCGCCCGCTACTTCAAAGAAAGC) c.672_673insGCCGACAACGCGCGCGTCGTTTTGGAAAAACCGCTGGGTACCGACCTCGCCTCTTCCCAACAAATCAATACCGATGTCGCCCGCTACTTCAAAGAAAGC (p.Asp224_Gln225insAlaAspAsnAlaArgValValLeuGluLysProLeuGlyThrAspLeuAlaSerSerGlnGlnIleAsnThrAspValAlaArgTyrPheLysGluSer) c.675_676insGCCGACAACGCGCGCGTCGTTTTGGAAAAACCGCTGGGTACCGACCTCGCCTCTTCCCAACAAATCAATACCGATGTCGCCCGCTACTTCAAAGAAAGC (p.Asp225_Gln226insAlaAspAsnAlaArgValValLeuGluLysProLeuGlyThrAspLeuAlaSerSerGlnGlnIleAsnThrAspValAlaArgTyrPheLysGluSer) | |
| X | g.154534400_154534401insGCGCACGA | CA2551643091 | G6PD | c.581_582insTCGTGCGC (p.Gln195ArgfsTer23) c.584_585insTCGTGCGC (p.Gln196ArgfsTer23) c.444_445insTCGTGCGC c.447_448insTCGTGCGC c.461_462insTCGTGCGC (p.Gln155ArgfsTer23) c.*423_*424insTCGTGCGC (n.*423_*424insTCGTGCGC) c.671_672insTCGTGCGC (p.Gln225ArgfsTer23) c.674_675insTCGTGCGC (p.Gln226ArgfsTer23) | |
| X | g.154534400_154534401insCCACGGCGTCGTTGACCTTGCGCGATGAC | CA2695146794 | G6PD | c.581_582insGTCATCGCGCAAGGTCAACGACGCCGTGG (p.Asp194GlufsTer31) c.584_585insGTCATCGCGCAAGGTCAACGACGCCGTGG (p.Asp195GlufsTer31) c.444_445insGTCATCGCGCAAGGTCAACGACGCCGTGG c.447_448insGTCATCGCGCAAGGTCAACGACGCCGTGG c.461_462insGTCATCGCGCAAGGTCAACGACGCCGTGG (p.Asp154GlufsTer31) c.*423_*424insGTCATCGCGCAAGGTCAACGACGCCGTGG (n.*423_*424insGTCATCGCGCAAGGTCAACGACGCCGTGG) c.671_672insGTCATCGCGCAAGGTCAACGACGCCGTGG (p.Asp224GlufsTer31) c.674_675insGTCATCGCGCAAGGTCAACGACGCCGTGG (p.Asp225GlufsTer31) | gnomAD v4 |
| X | g.154534400_154534401insCCACGGCGTCATTGACCTTGCGCGACGAC | CA2695146793 | G6PD | c.581_582insGTCGTCGCGCAAGGTCAATGACGCCGTGG (p.Asp194GlufsTer31) c.584_585insGTCGTCGCGCAAGGTCAATGACGCCGTGG (p.Asp195GlufsTer31) c.444_445insGTCGTCGCGCAAGGTCAATGACGCCGTGG c.447_448insGTCGTCGCGCAAGGTCAATGACGCCGTGG c.461_462insGTCGTCGCGCAAGGTCAATGACGCCGTGG (p.Asp154GlufsTer31) c.*423_*424insGTCGTCGCGCAAGGTCAATGACGCCGTGG (n.*423_*424insGTCGTCGCGCAAGGTCAATGACGCCGTGG) c.671_672insGTCGTCGCGCAAGGTCAATGACGCCGTGG (p.Asp224GlufsTer31) c.674_675insGTCGTCGCGCAAGGTCAATGACGCCGTGG (p.Asp225GlufsTer31) | gnomAD v4 |