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.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.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.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.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.154534398_154534399insTC | CA2824282523 | G6PD | c.583_584insGA (p.Gln195ArgfsTer21) c.586_587insGA (p.Gln196ArgfsTer21) c.446_447insGA c.449_450insGA c.463_464insGA (p.Gln155ArgfsTer21) c.*425_*426insGA (n.*425_*426insGA) c.673_674insGA (p.Gln225ArgfsTer21) c.676_677insGA (p.Gln226ArgfsTer21) | |
| 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_154534400insCGGGGAA | CA2824282524 | G6PD | c.582_583insTTCCCCG (p.Gln195PhefsTer?) c.585_586insTTCCCCG (p.Gln196PhefsTer?) c.445_446insTTCCCCG c.448_449insTTCCCCG c.462_463insTTCCCCG (p.Gln155PhefsTer?) c.*424_*425insTTCCCCG (n.*424_*425insTTCCCCG) c.672_673insTTCCCCG (p.Gln225PhefsTer?) c.675_676insTTCCCCG (p.Gln226PhefsTer?) | |
| 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 |
| X | g.154534400_154534401insCTTTCTTTGAAGTAGCGGGCGACATCGGTATTGATTTGTTGGGAAGAGGCGAGGTCGGTACCCAGCGGTTTTTCCAAAACGACGCGCGCGTTGTCGGCATTCAGGCCGACTTTGGCAAGGTTT | CA2545330681 | G6PD | c.581_582insAAACCTTGCCAAAGTCGGCCTGAATGCCGACAACGCGCGCGTCGTTTTGGAAAAACCGCTGGGTACCGACCTCGCCTCTTCCCAACAAATCAATACCGATGTCGCCCGCTACTTCAAAGAAAG (p.Asp194delinsGluAsnLeuAlaLysValGlyLeuAsnAlaAspAsnAlaArgValValLeuGluLysProLeuGlyThrAspLeuAlaSerSerGlnGlnIleAsnThrAspValAlaArgTyrPheLysGluSer) c.584_585insAAACCTTGCCAAAGTCGGCCTGAATGCCGACAACGCGCGCGTCGTTTTGGAAAAACCGCTGGGTACCGACCTCGCCTCTTCCCAACAAATCAATACCGATGTCGCCCGCTACTTCAAAGAAAG (p.Asp195delinsGluAsnLeuAlaLysValGlyLeuAsnAlaAspAsnAlaArgValValLeuGluLysProLeuGlyThrAspLeuAlaSerSerGlnGlnIleAsnThrAspValAlaArgTyrPheLysGluSer) c.444_445insAAACCTTGCCAAAGTCGGCCTGAATGCCGACAACGCGCGCGTCGTTTTGGAAAAACCGCTGGGTACCGACCTCGCCTCTTCCCAACAAATCAATACCGATGTCGCCCGCTACTTCAAAGAAAG c.447_448insAAACCTTGCCAAAGTCGGCCTGAATGCCGACAACGCGCGCGTCGTTTTGGAAAAACCGCTGGGTACCGACCTCGCCTCTTCCCAACAAATCAATACCGATGTCGCCCGCTACTTCAAAGAAAG c.461_462insAAACCTTGCCAAAGTCGGCCTGAATGCCGACAACGCGCGCGTCGTTTTGGAAAAACCGCTGGGTACCGACCTCGCCTCTTCCCAACAAATCAATACCGATGTCGCCCGCTACTTCAAAGAAAG (p.Asp154delinsGluAsnLeuAlaLysValGlyLeuAsnAlaAspAsnAlaArgValValLeuGluLysProLeuGlyThrAspLeuAlaSerSerGlnGlnIleAsnThrAspValAlaArgTyrPheLysGluSer) c.*423_*424insAAACCTTGCCAAAGTCGGCCTGAATGCCGACAACGCGCGCGTCGTTTTGGAAAAACCGCTGGGTACCGACCTCGCCTCTTCCCAACAAATCAATACCGATGTCGCCCGCTACTTCAAAGAAAG (n.*423_*424insAAACCTTGCCAAAGTCGGCCTGAATGCCGACAACGCGCGCGTCGTTTTGGAAAAACCGCTGGGTACCGACCTCGCCTCTTCCCAACAAATCAATACCGATGTCGCCCGCTACTTCAAAGAAAG) c.671_672insAAACCTTGCCAAAGTCGGCCTGAATGCCGACAACGCGCGCGTCGTTTTGGAAAAACCGCTGGGTACCGACCTCGCCTCTTCCCAACAAATCAATACCGATGTCGCCCGCTACTTCAAAGAAAG (p.Asp224delinsGluAsnLeuAlaLysValGlyLeuAsnAlaAspAsnAlaArgValValLeuGluLysProLeuGlyThrAspLeuAlaSerSerGlnGlnIleAsnThrAspValAlaArgTyrPheLysGluSer) c.674_675insAAACCTTGCCAAAGTCGGCCTGAATGCCGACAACGCGCGCGTCGTTTTGGAAAAACCGCTGGGTACCGACCTCGCCTCTTCCCAACAAATCAATACCGATGTCGCCCGCTACTTCAAAGAAAG (p.Asp225delinsGluAsnLeuAlaLysValGlyLeuAsnAlaAspAsnAlaArgValValLeuGluLysProLeuGlyThrAspLeuAlaSerSerGlnGlnIleAsnThrAspValAlaArgTyrPheLysGluSer) | |
| X | g.154534400_154534401insCTTTCTTTGAAGTAGCGGGCGACATCGGTATTGATTTGTTGGGAAGAGGCGAGGTCGGTACCCAGCGGTTTTTCCAAAACGACGCGCGCGTTGTCGGCGTTCAGTCCGACTTTGGCAAGGTTT | CA2508422920 | G6PD | c.581_582insAAACCTTGCCAAAGTCGGACTGAACGCCGACAACGCGCGCGTCGTTTTGGAAAAACCGCTGGGTACCGACCTCGCCTCTTCCCAACAAATCAATACCGATGTCGCCCGCTACTTCAAAGAAAG (p.Asp194delinsGluAsnLeuAlaLysValGlyLeuAsnAlaAspAsnAlaArgValValLeuGluLysProLeuGlyThrAspLeuAlaSerSerGlnGlnIleAsnThrAspValAlaArgTyrPheLysGluSer) c.584_585insAAACCTTGCCAAAGTCGGACTGAACGCCGACAACGCGCGCGTCGTTTTGGAAAAACCGCTGGGTACCGACCTCGCCTCTTCCCAACAAATCAATACCGATGTCGCCCGCTACTTCAAAGAAAG (p.Asp195delinsGluAsnLeuAlaLysValGlyLeuAsnAlaAspAsnAlaArgValValLeuGluLysProLeuGlyThrAspLeuAlaSerSerGlnGlnIleAsnThrAspValAlaArgTyrPheLysGluSer) c.444_445insAAACCTTGCCAAAGTCGGACTGAACGCCGACAACGCGCGCGTCGTTTTGGAAAAACCGCTGGGTACCGACCTCGCCTCTTCCCAACAAATCAATACCGATGTCGCCCGCTACTTCAAAGAAAG c.447_448insAAACCTTGCCAAAGTCGGACTGAACGCCGACAACGCGCGCGTCGTTTTGGAAAAACCGCTGGGTACCGACCTCGCCTCTTCCCAACAAATCAATACCGATGTCGCCCGCTACTTCAAAGAAAG c.461_462insAAACCTTGCCAAAGTCGGACTGAACGCCGACAACGCGCGCGTCGTTTTGGAAAAACCGCTGGGTACCGACCTCGCCTCTTCCCAACAAATCAATACCGATGTCGCCCGCTACTTCAAAGAAAG (p.Asp154delinsGluAsnLeuAlaLysValGlyLeuAsnAlaAspAsnAlaArgValValLeuGluLysProLeuGlyThrAspLeuAlaSerSerGlnGlnIleAsnThrAspValAlaArgTyrPheLysGluSer) c.*423_*424insAAACCTTGCCAAAGTCGGACTGAACGCCGACAACGCGCGCGTCGTTTTGGAAAAACCGCTGGGTACCGACCTCGCCTCTTCCCAACAAATCAATACCGATGTCGCCCGCTACTTCAAAGAAAG (n.*423_*424insAAACCTTGCCAAAGTCGGACTGAACGCCGACAACGCGCGCGTCGTTTTGGAAAAACCGCTGGGTACCGACCTCGCCTCTTCCCAACAAATCAATACCGATGTCGCCCGCTACTTCAAAGAAAG) c.671_672insAAACCTTGCCAAAGTCGGACTGAACGCCGACAACGCGCGCGTCGTTTTGGAAAAACCGCTGGGTACCGACCTCGCCTCTTCCCAACAAATCAATACCGATGTCGCCCGCTACTTCAAAGAAAG (p.Asp224delinsGluAsnLeuAlaLysValGlyLeuAsnAlaAspAsnAlaArgValValLeuGluLysProLeuGlyThrAspLeuAlaSerSerGlnGlnIleAsnThrAspValAlaArgTyrPheLysGluSer) c.674_675insAAACCTTGCCAAAGTCGGACTGAACGCCGACAACGCGCGCGTCGTTTTGGAAAAACCGCTGGGTACCGACCTCGCCTCTTCCCAACAAATCAATACCGATGTCGCCCGCTACTTCAAAGAAAG (p.Asp225delinsGluAsnLeuAlaLysValGlyLeuAsnAlaAspAsnAlaArgValValLeuGluLysProLeuGlyThrAspLeuAlaSerSerGlnGlnIleAsnThrAspValAlaArgTyrPheLysGluSer) | |
| X | g.154534401T>A | CA415237893 | G6PD | c.581A>T (p.Asp194Val) c.584A>T (p.Asp195Val) c.444A>T c.447A>T c.461A>T (p.Asp154Val) c.*423A>T (n.*423A>T) c.671A>T (p.Asp224Val) c.674A>T (p.Asp225Val) | |
| X | g.154534401T>C | CA415237894 | G6PD | c.581A>G (p.Asp194Gly) c.584A>G (p.Asp195Gly) c.444A>G c.447A>G c.461A>G (p.Asp154Gly) c.*423A>G (n.*423A>G) c.671A>G (p.Asp224Gly) c.674A>G (p.Asp225Gly) | |
| X | g.154534401T>G | CA415237895 | G6PD | c.581A>C (p.Asp194Ala) c.584A>C (p.Asp195Ala) c.444A>C c.447A>C c.461A>C (p.Asp154Ala) c.*423A>C (n.*423A>C) c.671A>C (p.Asp224Ala) c.674A>C (p.Asp225Ala) | |
| X | g.154534401_154534402insTTT | CA2824282529 | G6PD | c.581_582insAAA (p.Asp194delinsGluAsn) c.584_585insAAA (p.Asp195delinsGluAsn) c.444_445insAAA c.447_448insAAA c.461_462insAAA (p.Asp154delinsGluAsn) c.*423_*424insAAA (n.*423_*424insAAA) c.671_672insAAA (p.Asp224delinsGluAsn) c.674_675insAAA (p.Asp225delinsGluAsn) | |
| X | g.154534401_154534402del | CA2506491439 | G6PD | c.580_581del (p.Asp194ProfsTer?) c.583_584del (p.Asp195ProfsTer?) c.443_444del c.446_447del c.460_461del (p.Asp154ProfsTer?) c.*422_*423del (n.*422_*423del) c.670_671del (p.Asp224ProfsTer?) c.673_674del (p.Asp225ProfsTer?) | |
| X | g.154534402C>A | CA415237897 | G6PD | c.580G>T (p.Asp194Tyr) c.583G>T (p.Asp195Tyr) c.443G>T c.446G>T c.460G>T (p.Asp154Tyr) c.*422G>T (n.*422G>T) c.670G>T (p.Asp224Tyr) c.673G>T (p.Asp225Tyr) | |
| X | g.154534402C= | CA2466724161 | G6PD | c.580G= (p.Asp194=) c.583G= (p.Asp195=) c.443G= c.446G= c.460G= (p.Asp154=) c.*422G= (n.*422G=) c.670G= (p.Asp224=) c.673G= (p.Asp225=) | |
| X | g.154534402C>G | CA415237899 | G6PD | c.580G>C (p.Asp194His) c.583G>C (p.Asp195His) c.443G>C c.446G>C c.460G>C (p.Asp154His) c.*422G>C (n.*422G>C) c.670G>C (p.Asp224His) c.673G>C (p.Asp225His) | |
| X | g.154534402C>T | CA415237901 | G6PD | c.580G>A (p.Asp194Asn) c.583G>A (p.Asp195Asn) c.443G>A c.446G>A c.460G>A (p.Asp154Asn) c.*422G>A (n.*422G>A) c.670G>A (p.Asp224Asn) c.673G>A (p.Asp225Asn) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154534402_154534403insGCG | CA2824282539 | G6PD | c.579_580insCGC (p.Glu193_Asp194insArg) c.582_583insCGC (p.Glu194_Asp195insArg) c.442_443insCGC c.445_446insCGC c.459_460insCGC (p.Glu153_Asp154insArg) c.*421_*422insCGC (n.*421_*422insCGC) c.669_670insCGC (p.Glu223_Asp224insArg) c.672_673insCGC (p.Glu224_Asp225insArg) | |
| X | g.154534402_154534403insGGGG | CA2561314420 | G6PD | c.579_580insCCCC (p.Asp194ProfsTer?) c.582_583insCCCC (p.Asp195ProfsTer?) c.442_443insCCCC c.445_446insCCCC c.459_460insCCCC (p.Asp154ProfsTer?) c.*421_*422insCCCC (n.*421_*422insCCCC) c.669_670insCCCC (p.Asp224ProfsTer?) c.672_673insCCCC (p.Asp225ProfsTer?) | |
| X | g.154534402_154534403insGCACGATCCGT | CA2526834786 | G6PD | c.579_580insACGGATCGTGC (p.Asp194ThrfsTer25) c.582_583insACGGATCGTGC (p.Asp195ThrfsTer25) c.442_443insACGGATCGTGC c.445_446insACGGATCGTGC c.459_460insACGGATCGTGC (p.Asp154ThrfsTer25) c.*421_*422insACGGATCGTGC (n.*421_*422insACGGATCGTGC) c.669_670insACGGATCGTGC (p.Asp224ThrfsTer25) c.672_673insACGGATCGTGC (p.Asp225ThrfsTer25) | |
| X | g.154534403C>A | CA415237902 | G6PD | c.579G>T (p.Glu193Asp) c.582G>T (p.Glu194Asp) c.442G>T c.445G>T c.459G>T (p.Glu153Asp) c.*421G>T (n.*421G>T) c.669G>T (p.Glu223Asp) c.672G>T (p.Glu224Asp) | |
| X | g.154534403C= | CA2466724162 | G6PD | c.579G= (p.Glu193=) c.582G= (p.Glu194=) c.442G= c.445G= c.459G= (p.Glu153=) c.*421G= (n.*421G=) c.669G= (p.Glu223=) c.672G= (p.Glu224=) | |
| X | g.154534403C>G | CA415237903 | G6PD | c.579G>C (p.Glu193Asp) c.582G>C (p.Glu194Asp) c.442G>C c.445G>C c.459G>C (p.Glu153Asp) c.*421G>C (n.*421G>C) c.669G>C (p.Glu223Asp) c.672G>C (p.Glu224Asp) | gnomAD v3 gnomAD v4 |
| X | g.154534403C>T | CA519305739 | G6PD | c.579G>A (p.Glu193=) c.582G>A (p.Glu194=) c.442G>A c.445G>A c.459G>A (p.Glu153=) c.*421G>A (n.*421G>A) c.669G>A (p.Glu223=) c.672G>A (p.Glu224=) | dbSNP |
| X | g.154534403_154534404insGGGAAAAAC | CA2824282534 | G6PD | c.579_580insTTTTTCCCG (p.Glu193_Asp194insPhePhePro) c.582_583insTTTTTCCCG (p.Glu194_Asp195insPhePhePro) c.442_443insTTTTTCCCG c.445_446insTTTTTCCCG c.459_460insTTTTTCCCG (p.Glu153_Asp154insPhePhePro) c.*421_*422insTTTTTCCCG (n.*421_*422insTTTTTCCCG) c.669_670insTTTTTCCCG (p.Glu223_Asp224insPhePhePro) c.672_673insTTTTTCCCG (p.Glu224_Asp225insPhePhePro) | |
| X | g.154534403_154534408del | CA2824282540 | G6PD | c.574_579del (p.Arg192_Glu193del) c.577_582del (p.Arg193_Glu194del) c.437_442del c.440_445del c.454_459del (p.Arg152_Glu153del) c.*416_*421del (n.*416_*421del) c.664_669del (p.Arg222_Glu223del) c.667_672del (p.Arg223_Glu224del) | |
| X | g.154534403_154534404insCACGAGG | CA2741806514 | G6PD | c.578_579insCCTCGTG (p.Glu193AspfsTer?) c.581_582insCCTCGTG (p.Glu194AspfsTer?) c.441_442insCCTCGTG c.444_445insCCTCGTG c.458_459insCCTCGTG (p.Glu153AspfsTer?) c.*420_*421insCCTCGTG (n.*420_*421insCCTCGTG) c.668_669insCCTCGTG (p.Glu223AspfsTer?) c.671_672insCCTCGTG (p.Glu224AspfsTer?) |