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.154534319G>A | CA10566202 | G6PD | c.644+19C>T (n.644+19C>T) c.647+19C>T (n.647+19C>T) c.507+19C>T c.510+19C>T c.524+19C>T (n.524+19C>T) c.*486+19C>T (n.*486+19C>T) c.734+19C>T (n.734+19C>T) c.737+19C>T (n.737+19C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154534319G>C | CA2466724120 | G6PD | c.644+19C>G (n.644+19C>G) c.647+19C>G (n.647+19C>G) c.507+19C>G c.510+19C>G c.524+19C>G (n.524+19C>G) c.*486+19C>G (n.*486+19C>G) c.734+19C>G (n.734+19C>G) c.737+19C>G (n.737+19C>G) | dbSNP gnomAD v4 |
| X | g.154534319G= | CA2466724119 | G6PD | c.644+19C= (n.644+19C=) c.647+19C= (n.647+19C=) c.507+19C= c.510+19C= c.524+19C= (n.524+19C=) c.*486+19C= (n.*486+19C=) c.734+19C= (n.734+19C=) c.737+19C= (n.737+19C=) | |
| X | g.154534320G>A | CA337317462 | G6PD | c.644+18C>T (n.644+18C>T) c.647+18C>T (n.647+18C>T) c.507+18C>T c.510+18C>T c.524+18C>T (n.524+18C>T) c.*486+18C>T (n.*486+18C>T) c.734+18C>T (n.734+18C>T) c.737+18C>T (n.737+18C>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154534320G>C | CA2695146609 | G6PD | c.644+18C>G (n.644+18C>G) c.647+18C>G (n.647+18C>G) c.507+18C>G c.510+18C>G c.524+18C>G (n.524+18C>G) c.*486+18C>G (n.*486+18C>G) c.734+18C>G (n.734+18C>G) c.737+18C>G (n.737+18C>G) | gnomAD v4 |
| X | g.154534320G= | CA2466724121 | G6PD | c.644+18C= (n.644+18C=) c.647+18C= (n.647+18C=) c.507+18C= c.510+18C= c.524+18C= (n.524+18C=) c.*486+18C= (n.*486+18C=) c.734+18C= (n.734+18C=) c.737+18C= (n.737+18C=) | |
| X | g.154534321C= | CA2466724122 | G6PD | c.644+17G= (n.644+17G=) c.647+17G= (n.647+17G=) c.507+17G= c.510+17G= c.524+17G= (n.524+17G=) c.*486+17G= (n.*486+17G=) c.734+17G= (n.734+17G=) c.737+17G= (n.737+17G=) | |
| X | g.154534321C>T | CA337317467 | G6PD | c.644+17G>A (n.644+17G>A) c.647+17G>A (n.647+17G>A) c.507+17G>A c.510+17G>A c.524+17G>A (n.524+17G>A) c.*486+17G>A (n.*486+17G>A) c.734+17G>A (n.734+17G>A) c.737+17G>A (n.737+17G>A) | dbSNP gnomAD v4 |
| X | g.154534322C= | CA2466724123 | G6PD | c.644+16G= (n.644+16G=) c.647+16G= (n.647+16G=) c.507+16G= c.510+16G= c.524+16G= (n.524+16G=) c.*486+16G= (n.*486+16G=) c.734+16G= (n.734+16G=) c.737+16G= (n.737+16G=) | |
| X | g.154534322C>G | CA10566203 | G6PD | c.644+16G>C (n.644+16G>C) c.647+16G>C (n.647+16G>C) c.507+16G>C c.510+16G>C c.524+16G>C (n.524+16G>C) c.*486+16G>C (n.*486+16G>C) c.734+16G>C (n.734+16G>C) c.737+16G>C (n.737+16G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154534326G>A | CA873344034 | G6PD | c.644+12C>T (n.644+12C>T) c.647+12C>T (n.647+12C>T) c.507+12C>T c.510+12C>T c.524+12C>T (n.524+12C>T) c.*486+12C>T (n.*486+12C>T) c.734+12C>T (n.734+12C>T) c.737+12C>T (n.737+12C>T) | dbSNP |
| X | g.154534326G>C | CA2695146613 | G6PD | c.644+12C>G (n.644+12C>G) c.647+12C>G (n.647+12C>G) c.507+12C>G c.510+12C>G c.524+12C>G (n.524+12C>G) c.*486+12C>G (n.*486+12C>G) c.734+12C>G (n.734+12C>G) c.737+12C>G (n.737+12C>G) | gnomAD v4 |
| X | g.154534326G= | CA2466724124 | G6PD | c.644+12C= (n.644+12C=) c.647+12C= (n.647+12C=) c.507+12C= c.510+12C= c.524+12C= (n.524+12C=) c.*486+12C= (n.*486+12C=) c.734+12C= (n.734+12C=) c.737+12C= (n.737+12C=) | |
| X | g.154534327C>T | CA2695146615 | G6PD | c.644+11G>A (n.644+11G>A) c.647+11G>A (n.647+11G>A) c.507+11G>A c.510+11G>A c.524+11G>A (n.524+11G>A) c.*486+11G>A (n.*486+11G>A) c.734+11G>A (n.734+11G>A) c.737+11G>A (n.737+11G>A) | gnomAD v4 |
| X | g.154534328T>C | CA2580101932 | G6PD | c.644+10A>G (n.644+10A>G) c.647+10A>G (n.647+10A>G) c.507+10A>G c.510+10A>G c.524+10A>G (n.524+10A>G) c.*486+10A>G (n.*486+10A>G) c.734+10A>G (n.734+10A>G) c.737+10A>G (n.737+10A>G) | ClinVar gnomAD v4 |
| X | g.154534329T>C | CA873344037 | G6PD | c.644+9A>G (n.644+9A>G) c.647+9A>G (n.647+9A>G) c.507+9A>G c.510+9A>G c.524+9A>G (n.524+9A>G) c.*486+9A>G (n.*486+9A>G) c.734+9A>G (n.734+9A>G) c.737+9A>G (n.737+9A>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154534329T>G | CA2499226511 | G6PD | c.644+9A>C (n.644+9A>C) c.647+9A>C (n.647+9A>C) c.507+9A>C c.510+9A>C c.524+9A>C (n.524+9A>C) c.*486+9A>C (n.*486+9A>C) c.734+9A>C (n.734+9A>C) c.737+9A>C (n.737+9A>C) | ClinVar dbSNP |
| X | g.154534329T= | CA2466724125 | G6PD | c.644+9A= (n.644+9A=) c.647+9A= (n.647+9A=) c.507+9A= c.510+9A= c.524+9A= (n.524+9A=) c.*486+9A= (n.*486+9A=) c.734+9A= (n.734+9A=) c.737+9A= (n.737+9A=) | |
| X | g.154534330G>T | CA2579742092 | G6PD | c.644+8C>A (n.644+8C>A) c.647+8C>A (n.647+8C>A) c.507+8C>A c.510+8C>A c.524+8C>A (n.524+8C>A) c.*486+8C>A (n.*486+8C>A) c.734+8C>A (n.734+8C>A) c.737+8C>A (n.737+8C>A) | |
| X | g.154534331G>A | CA1138582985 | G6PD | c.644+7C>T (n.644+7C>T) c.647+7C>T (n.647+7C>T) c.507+7C>T c.510+7C>T c.524+7C>T (n.524+7C>T) c.*486+7C>T (n.*486+7C>T) c.734+7C>T (n.734+7C>T) c.737+7C>T (n.737+7C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.154534331G= | CA2466724126 | G6PD | c.644+7C= (n.644+7C=) c.647+7C= (n.647+7C=) c.507+7C= c.510+7C= c.524+7C= (n.524+7C=) c.*486+7C= (n.*486+7C=) c.734+7C= (n.734+7C=) c.737+7C= (n.737+7C=) | |
| X | g.154534331G>T | CA2695146622 | G6PD | c.644+7C>A (n.644+7C>A) c.647+7C>A (n.647+7C>A) c.507+7C>A c.510+7C>A c.524+7C>A (n.524+7C>A) c.*486+7C>A (n.*486+7C>A) c.734+7C>A (n.734+7C>A) c.737+7C>A (n.737+7C>A) | gnomAD v4 |
| X | g.154534332C>T | CA2580101933 | G6PD | c.644+6G>A (n.644+6G>A) c.647+6G>A (n.647+6G>A) c.507+6G>A c.510+6G>A c.524+6G>A (n.524+6G>A) c.*486+6G>A (n.*486+6G>A) c.734+6G>A (n.734+6G>A) c.737+6G>A (n.737+6G>A) | ClinVar |
| X | g.154534335del | CA2579742093 | G6PD | c.644+6del (n.644+6del) c.647+6del (n.647+6del) c.507+6del c.510+6del c.524+6del (n.524+6del) c.*486+6del (n.*486+6del) c.734+6del (n.734+6del) c.737+6del (n.737+6del) | gnomAD v4 |
| X | g.154534335C>A | CA2571743837 | G6PD | c.644+3G>T (n.644+3G>T) c.647+3G>T (n.647+3G>T) c.507+3G>T c.510+3G>T c.524+3G>T (n.524+3G>T) c.*486+3G>T (n.*486+3G>T) c.734+3G>T (n.734+3G>T) c.737+3G>T (n.737+3G>T) | |
| X | g.154534335C>T | CA2695146626 | G6PD | c.644+3G>A (n.644+3G>A) c.647+3G>A (n.647+3G>A) c.507+3G>A c.510+3G>A c.524+3G>A (n.524+3G>A) c.*486+3G>A (n.*486+3G>A) c.734+3G>A (n.734+3G>A) c.737+3G>A (n.737+3G>A) | gnomAD v4 |
| X | g.154534336A>C | CA415236978 | G6PD | c.644+2T>G (n.644+2T>G) c.647+2T>G (n.647+2T>G) c.507+2T>G c.510+2T>G c.524+2T>G (n.524+2T>G) c.*486+2T>G (n.*486+2T>G) c.734+2T>G (n.734+2T>G) c.737+2T>G (n.737+2T>G) | |
| X | g.154534336A>G | CA415236979 | G6PD | c.644+2T>C (n.644+2T>C) c.647+2T>C (n.647+2T>C) c.507+2T>C c.510+2T>C c.524+2T>C (n.524+2T>C) c.*486+2T>C (n.*486+2T>C) c.734+2T>C (n.734+2T>C) c.737+2T>C (n.737+2T>C) | |
| X | g.154534336A>T | CA415236982 | G6PD | c.644+2T>A (n.644+2T>A) c.647+2T>A (n.647+2T>A) c.507+2T>A c.510+2T>A c.524+2T>A (n.524+2T>A) c.*486+2T>A (n.*486+2T>A) c.734+2T>A (n.734+2T>A) c.737+2T>A (n.737+2T>A) | |
| X | g.154534337C>A | CA415236985 | G6PD | c.644+1G>T (n.644+1G>T) c.647+1G>T (n.647+1G>T) c.507+1G>T c.510+1G>T c.524+1G>T (n.524+1G>T) c.*486+1G>T (n.*486+1G>T) c.734+1G>T (n.734+1G>T) c.737+1G>T (n.737+1G>T) | dbSNP |
| X | g.154534337C= | CA2466724127 | G6PD | c.644+1G= (n.644+1G=) c.647+1G= (n.647+1G=) c.507+1G= c.510+1G= c.524+1G= (n.524+1G=) c.*486+1G= (n.*486+1G=) c.734+1G= (n.734+1G=) c.737+1G= (n.737+1G=) | |
| X | g.154534337C>G | CA415236987 | G6PD | c.644+1G>C (n.644+1G>C) c.647+1G>C (n.647+1G>C) c.507+1G>C c.510+1G>C c.524+1G>C (n.524+1G>C) c.*486+1G>C (n.*486+1G>C) c.734+1G>C (n.734+1G>C) c.737+1G>C (n.737+1G>C) | |
| X | g.154534337C>T | CA415236990 | G6PD | c.644+1G>A (n.644+1G>A) c.647+1G>A (n.647+1G>A) c.507+1G>A c.510+1G>A c.524+1G>A (n.524+1G>A) c.*486+1G>A (n.*486+1G>A) c.734+1G>A (n.734+1G>A) c.737+1G>A (n.737+1G>A) | |
| X | g.154534338dup | CA2499226512 | G6PD | c.644+1dup c.647+1dup c.507+1dup c.510+1dup c.524+1dup c.*486+1dup c.734+1dup c.737+1dup | ClinVar dbSNP |
| X | g.154534338C>A | CA415236993 | G6PD | c.644G>T (p.Arg215Ile) c.647G>T (p.Arg216Ile) c.507G>T c.510G>T c.524G>T (p.Arg175Ile) c.*486G>T (n.*486G>T) c.734G>T (p.Arg245Ile) c.737G>T (p.Arg246Ile) | |
| X | g.154534338C>G | CA415236996 | G6PD | c.644G>C (p.Arg215Thr) c.647G>C (p.Arg216Thr) c.507G>C c.510G>C c.524G>C (p.Arg175Thr) c.*486G>C (n.*486G>C) c.734G>C (p.Arg245Thr) c.737G>C (p.Arg246Thr) | |
| X | g.154534338C>T | CA415236998 | G6PD | c.644G>A (p.Arg215Lys) c.647G>A (p.Arg216Lys) c.507G>A c.510G>A c.524G>A (p.Arg175Lys) c.*486G>A (n.*486G>A) c.734G>A (p.Arg245Lys) c.737G>A (p.Arg246Lys) | |
| X | g.154534339T>A | CA415237005 | G6PD | c.643A>T (p.Arg215Ter) c.646A>T (p.Arg216Ter) c.506A>T c.509A>T c.523A>T (p.Arg175Ter) c.*485A>T (n.*485A>T) c.733A>T (p.Arg245Ter) c.736A>T (p.Arg246Ter) | |
| X | g.154534339T>C | CA415237002 | G6PD | c.643A>G (p.Arg215Gly) c.646A>G (p.Arg216Gly) c.506A>G c.509A>G c.523A>G (p.Arg175Gly) c.*485A>G (n.*485A>G) c.733A>G (p.Arg245Gly) c.736A>G (p.Arg246Gly) | |
| X | g.154534339T>G | CA519305252 | G6PD | c.643A>C (p.Arg215=) c.646A>C (p.Arg216=) c.506A>C c.509A>C c.523A>C (p.Arg175=) c.*485A>C (n.*485A>C) c.733A>C (p.Arg245=) c.736A>C (p.Arg246=) | |
| X | g.154534340C>A | CA519305253 | G6PD | c.642G>T (p.Leu214=) c.645G>T (p.Leu215=) c.505G>T c.508G>T c.522G>T (p.Leu174=) c.*484G>T (n.*484G>T) c.732G>T (p.Leu244=) c.735G>T (p.Leu245=) | |
| X | g.154534340C>G | CA519305254 | G6PD | c.642G>C (p.Leu214=) c.645G>C (p.Leu215=) c.505G>C c.508G>C c.522G>C (p.Leu174=) c.*484G>C (n.*484G>C) c.732G>C (p.Leu244=) c.735G>C (p.Leu245=) | |
| X | g.154534340C>T | CA519305255 | G6PD | c.642G>A (p.Leu214=) c.645G>A (p.Leu215=) c.505G>A c.508G>A c.522G>A (p.Leu174=) c.*484G>A (n.*484G>A) c.732G>A (p.Leu244=) c.735G>A (p.Leu245=) | |
| X | g.154534341A>C | CA415237009 | G6PD | c.641T>G (p.Leu214Arg) c.644T>G (p.Leu215Arg) c.504T>G c.507T>G c.521T>G (p.Leu174Arg) c.*483T>G (n.*483T>G) c.731T>G (p.Leu244Arg) c.734T>G (p.Leu245Arg) | |
| X | g.154534341A>G | CA415237011 | G6PD | c.641T>C (p.Leu214Pro) c.644T>C (p.Leu215Pro) c.504T>C c.507T>C c.521T>C (p.Leu174Pro) c.*483T>C (n.*483T>C) c.731T>C (p.Leu244Pro) c.734T>C (p.Leu245Pro) | |
| X | g.154534341A>T | CA415237014 | G6PD | c.641T>A (p.Leu214Gln) c.644T>A (p.Leu215Gln) c.504T>A c.507T>A c.521T>A (p.Leu174Gln) c.*483T>A (n.*483T>A) c.731T>A (p.Leu244Gln) c.734T>A (p.Leu245Gln) | |
| X | g.154534342G>A | CA519305256 | G6PD | c.640C>T (p.Leu214=) c.643C>T (p.Leu215=) c.503C>T c.506C>T c.520C>T (p.Leu174=) c.*482C>T (n.*482C>T) c.730C>T (p.Leu244=) c.733C>T (p.Leu245=) | |
| X | g.154534342G>C | CA415237021 | G6PD | c.640C>G (p.Leu214Val) c.643C>G (p.Leu215Val) c.503C>G c.506C>G c.520C>G (p.Leu174Val) c.*482C>G (n.*482C>G) c.730C>G (p.Leu244Val) c.733C>G (p.Leu245Val) | |
| X | g.154534342G>T | CA415237025 | G6PD | c.640C>A (p.Leu214Met) c.643C>A (p.Leu215Met) c.503C>A c.506C>A c.520C>A (p.Leu174Met) c.*482C>A (n.*482C>A) c.730C>A (p.Leu244Met) c.733C>A (p.Leu245Met) | |
| X | g.154534343C>A | CA519305258 | G6PD | c.639G>T (p.Val213=) c.642G>T (p.Val214=) c.502G>T c.505G>T c.519G>T (p.Val173=) c.*481G>T (n.*481G>T) c.729G>T (p.Val243=) c.732G>T (p.Val244=) | |
| X | g.154534343C>G | CA519305259 | G6PD | c.639G>C (p.Val213=) c.642G>C (p.Val214=) c.502G>C c.505G>C c.519G>C (p.Val173=) c.*481G>C (n.*481G>C) c.729G>C (p.Val243=) c.732G>C (p.Val244=) | |
| X | g.154534343C>T | CA519305257 | G6PD | c.639G>A (p.Val213=) c.642G>A (p.Val214=) c.502G>A c.505G>A c.519G>A (p.Val173=) c.*481G>A (n.*481G>A) c.729G>A (p.Val243=) c.732G>A (p.Val244=) | |
| X | g.154534344A= | CA2466724128 | G6PD | c.638T= (p.Val213=) c.641T= (p.Val214=) c.501T= c.504T= c.518T= (p.Val173=) c.*480T= (n.*480T=) c.728T= (p.Val243=) c.731T= (p.Val244=) | |
| X | g.154534344A>C | CA415237026 | G6PD | c.638T>G (p.Val213Gly) c.641T>G (p.Val214Gly) c.501T>G c.504T>G c.518T>G (p.Val173Gly) c.*480T>G (n.*480T>G) c.728T>G (p.Val243Gly) c.731T>G (p.Val244Gly) | |
| X | g.154534344A>G | CA10566204 | G6PD | c.638T>C (p.Val213Ala) c.641T>C (p.Val214Ala) c.501T>C c.504T>C c.518T>C (p.Val173Ala) c.*480T>C (n.*480T>C) c.728T>C (p.Val243Ala) c.731T>C (p.Val244Ala) | dbSNP ExAC |
| X | g.154534344A>T | CA415237030 | G6PD | c.638T>A (p.Val213Glu) c.641T>A (p.Val214Glu) c.501T>A c.504T>A c.518T>A (p.Val173Glu) c.*480T>A (n.*480T>A) c.728T>A (p.Val243Glu) c.731T>A (p.Val244Glu) | |
| X | g.154534345C>A | CA120984 | G6PD | c.637G>T (p.Val213Leu) c.640G>T (p.Val214Leu) c.500G>T c.503G>T c.517G>T (p.Val173Leu) c.*479G>T (n.*479G>T) c.727G>T (p.Val243Leu) c.730G>T (p.Val244Leu) | ClinVar dbSNP |
| X | g.154534345C= | CA2466724129 | G6PD | c.637G= (p.Val213=) c.640G= (p.Val214=) c.500G= c.503G= c.517G= (p.Val173=) c.*479G= (n.*479G=) c.727G= (p.Val243=) c.730G= (p.Val244=) | |
| X | g.154534345C>G | CA10566205 | G6PD | c.637G>C (p.Val213Leu) c.640G>C (p.Val214Leu) c.500G>C c.503G>C c.517G>C (p.Val173Leu) c.*479G>C (n.*479G>C) c.727G>C (p.Val243Leu) c.730G>C (p.Val244Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154534345C>T | CA415237042 | G6PD | c.637G>A (p.Val213Met) c.640G>A (p.Val214Met) c.500G>A c.503G>A c.517G>A (p.Val173Met) c.*479G>A (n.*479G>A) c.727G>A (p.Val243Met) c.730G>A (p.Val244Met) | |
| X | g.154534346C>A | CA415237052 | G6PD | c.636G>T (p.Met212Ile) c.639G>T (p.Met213Ile) c.499G>T c.502G>T c.516G>T (p.Met172Ile) c.*478G>T (n.*478G>T) c.726G>T (p.Met242Ile) c.729G>T (p.Met243Ile) | |
| X | g.154534346C>G | CA415237047 | G6PD | c.636G>C (p.Met212Ile) c.639G>C (p.Met213Ile) c.499G>C c.502G>C c.516G>C (p.Met172Ile) c.*478G>C (n.*478G>C) c.726G>C (p.Met242Ile) c.729G>C (p.Met243Ile) | |
| X | g.154534346C>T | CA415237045 | G6PD | c.636G>A (p.Met212Ile) c.639G>A (p.Met213Ile) c.499G>A c.502G>A c.516G>A (p.Met172Ile) c.*478G>A (n.*478G>A) c.726G>A (p.Met242Ile) c.729G>A (p.Met243Ile) | |
| X | g.154534347A>C | CA415237056 | G6PD | c.635T>G (p.Met212Arg) c.638T>G (p.Met213Arg) c.498T>G c.501T>G c.515T>G (p.Met172Arg) c.*477T>G (n.*477T>G) c.725T>G (p.Met242Arg) c.728T>G (p.Met243Arg) | |
| X | g.154534347A>G | CA415237060 | G6PD | c.635T>C (p.Met212Thr) c.638T>C (p.Met213Thr) c.498T>C c.501T>C c.515T>C (p.Met172Thr) c.*477T>C (n.*477T>C) c.725T>C (p.Met242Thr) c.728T>C (p.Met243Thr) | |
| X | g.154534347A>T | CA415237058 | G6PD | c.635T>A (p.Met212Lys) c.638T>A (p.Met213Lys) c.498T>A c.501T>A c.515T>A (p.Met172Lys) c.*477T>A (n.*477T>A) c.725T>A (p.Met242Lys) c.728T>A (p.Met243Lys) | |
| X | g.154534348T>A | CA415237064 | G6PD | c.634A>T (p.Met212Leu) c.637A>T (p.Met213Leu) c.497A>T c.500A>T c.514A>T (p.Met172Leu) c.*476A>T (n.*476A>T) c.724A>T (p.Met242Leu) c.727A>T (p.Met243Leu) | |
| X | g.154534348T>C | CA10566206 | G6PD | c.634A>G (p.Met212Val) c.637A>G (p.Met213Val) c.497A>G c.500A>G c.514A>G (p.Met172Val) c.*476A>G (n.*476A>G) c.724A>G (p.Met242Val) c.727A>G (p.Met243Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154534348T>G | CA415237066 | G6PD | c.634A>C (p.Met212Leu) c.637A>C (p.Met213Leu) c.497A>C c.500A>C c.514A>C (p.Met172Leu) c.*476A>C (n.*476A>C) c.724A>C (p.Met242Leu) c.727A>C (p.Met243Leu) | dbSNP gnomAD v4 |
| X | g.154534348T= | CA2466724130 | G6PD | c.634A= (p.Met212=) c.637A= (p.Met213=) c.497A= c.500A= c.514A= (p.Met172=) c.*476A= (n.*476A=) c.724A= (p.Met242=) c.727A= (p.Met243=) | |
| X | g.154534349G>A | CA337317502 | G6PD | c.633C>T (p.Leu211=) c.636C>T (p.Leu212=) c.496C>T c.499C>T c.513C>T (p.Leu171=) c.*475C>T (n.*475C>T) c.723C>T (p.Leu241=) c.726C>T (p.Leu242=) | dbSNP gnomAD v4 |
| X | g.154534349G>C | CA519305260 | G6PD | c.633C>G (p.Leu211=) c.636C>G (p.Leu212=) c.496C>G c.499C>G c.513C>G (p.Leu171=) c.*475C>G (n.*475C>G) c.723C>G (p.Leu241=) c.726C>G (p.Leu242=) | ClinVar dbSNP gnomAD v4 |
| X | g.154534349G= | CA2466724131 | G6PD | c.633C= (p.Leu211=) c.636C= (p.Leu212=) c.496C= c.499C= c.513C= (p.Leu171=) c.*475C= (n.*475C=) c.723C= (p.Leu241=) c.726C= (p.Leu242=) | |
| X | g.154534349G>T | CA519305261 | G6PD | c.633C>A (p.Leu211=) c.636C>A (p.Leu212=) c.496C>A c.499C>A c.513C>A (p.Leu171=) c.*475C>A (n.*475C>A) c.723C>A (p.Leu241=) c.726C>A (p.Leu242=) | dbSNP |
| X | g.154534350A>C | CA415237069 | G6PD | c.632T>G (p.Leu211Arg) c.635T>G (p.Leu212Arg) c.495T>G c.498T>G c.512T>G (p.Leu171Arg) c.*474T>G (n.*474T>G) c.722T>G (p.Leu241Arg) c.725T>G (p.Leu242Arg) | |
| X | g.154534350A>G | CA415237071 | G6PD | c.632T>C (p.Leu211Pro) c.635T>C (p.Leu212Pro) c.495T>C c.498T>C c.512T>C (p.Leu171Pro) c.*474T>C (n.*474T>C) c.722T>C (p.Leu241Pro) c.725T>C (p.Leu242Pro) | |
| X | g.154534350A>T | CA415237072 | G6PD | c.632T>A (p.Leu211His) c.635T>A (p.Leu212His) c.495T>A c.498T>A c.512T>A (p.Leu171His) c.*474T>A (n.*474T>A) c.722T>A (p.Leu241His) c.725T>A (p.Leu242His) | |
| X | g.154534351G>A | CA415237705 | G6PD | c.631C>T (p.Leu211Phe) c.634C>T (p.Leu212Phe) c.494C>T c.497C>T c.511C>T (p.Leu171Phe) c.*473C>T (n.*473C>T) c.721C>T (p.Leu241Phe) c.724C>T (p.Leu242Phe) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154534351G>C | CA415237707 | G6PD | c.631C>G (p.Leu211Val) c.634C>G (p.Leu212Val) c.494C>G c.497C>G c.511C>G (p.Leu171Val) c.*473C>G (n.*473C>G) c.721C>G (p.Leu241Val) c.724C>G (p.Leu242Val) | |
| X | g.154534351G= | CA2466724132 | G6PD | c.631C= (p.Leu211=) c.634C= (p.Leu212=) c.494C= c.497C= c.511C= (p.Leu171=) c.*473C= (n.*473C=) c.721C= (p.Leu241=) c.724C= (p.Leu242=) | |
| X | g.154534351G>T | CA415237708 | G6PD | c.631C>A (p.Leu211Ile) c.634C>A (p.Leu212Ile) c.494C>A c.497C>A c.511C>A (p.Leu171Ile) c.*473C>A (n.*473C>A) c.721C>A (p.Leu241Ile) c.724C>A (p.Leu242Ile) | dbSNP |
| X | g.154534352G>A | CA519305580 | G6PD | c.630C>T (p.Asn210=) c.633C>T (p.Asn211=) c.493C>T c.496C>T c.510C>T (p.Asn170=) c.*472C>T (n.*472C>T) c.720C>T (p.Asn240=) c.723C>T (p.Asn241=) | |
| X | g.154534352G>C | CA415237711 | G6PD | c.630C>G (p.Asn210Lys) c.633C>G (p.Asn211Lys) c.493C>G c.496C>G c.510C>G (p.Asn170Lys) c.*472C>G (n.*472C>G) c.720C>G (p.Asn240Lys) c.723C>G (p.Asn241Lys) | |
| X | g.154534352G>T | CA415237710 | G6PD | c.630C>A (p.Asn210Lys) c.633C>A (p.Asn211Lys) c.493C>A c.496C>A c.510C>A (p.Asn170Lys) c.*472C>A (n.*472C>A) c.720C>A (p.Asn240Lys) c.723C>A (p.Asn241Lys) | |
| X | g.154534353T>A | CA415237713 | G6PD | c.629A>T (p.Asn210Ile) c.632A>T (p.Asn211Ile) c.492A>T c.495A>T c.509A>T (p.Asn170Ile) c.*471A>T (n.*471A>T) c.719A>T (p.Asn240Ile) c.722A>T (p.Asn241Ile) | |
| X | g.154534353T>C | CA415237715 | G6PD | c.629A>G (p.Asn210Ser) c.632A>G (p.Asn211Ser) c.492A>G c.495A>G c.509A>G (p.Asn170Ser) c.*471A>G (n.*471A>G) c.719A>G (p.Asn240Ser) c.722A>G (p.Asn241Ser) | dbSNP |
| X | g.154534353T>G | CA415237717 | G6PD | c.629A>C (p.Asn210Thr) c.632A>C (p.Asn211Thr) c.492A>C c.495A>C c.509A>C (p.Asn170Thr) c.*471A>C (n.*471A>C) c.719A>C (p.Asn240Thr) c.722A>C (p.Asn241Thr) | |
| X | g.154534353T= | CA2466724133 | G6PD | c.629A= (p.Asn210=) c.632A= (p.Asn211=) c.492A= c.495A= c.509A= (p.Asn170=) c.*471A= (n.*471A=) c.719A= (p.Asn240=) c.722A= (p.Asn241=) | |
| X | g.154534354T>A | CA415237719 | G6PD | c.628A>T (p.Asn210Tyr) c.631A>T (p.Asn211Tyr) c.491A>T c.494A>T c.508A>T (p.Asn170Tyr) c.*470A>T (n.*470A>T) c.718A>T (p.Asn240Tyr) c.721A>T (p.Asn241Tyr) | |
| X | g.154534354T>C | CA415237721 | G6PD | c.628A>G (p.Asn210Asp) c.631A>G (p.Asn211Asp) c.491A>G c.494A>G c.508A>G (p.Asn170Asp) c.*470A>G (n.*470A>G) c.718A>G (p.Asn240Asp) c.721A>G (p.Asn241Asp) | ClinVar dbSNP |
| X | g.154534354T>G | CA415237723 | G6PD | c.628A>C (p.Asn210His) c.631A>C (p.Asn211His) c.491A>C c.494A>C c.508A>C (p.Asn170His) c.*470A>C (n.*470A>C) c.718A>C (p.Asn240His) c.721A>C (p.Asn241His) | |
| X | g.154534355C>A | CA415237724 | G6PD | c.627G>T (p.Gln209His) c.630G>T (p.Gln210His) c.490G>T c.493G>T c.507G>T (p.Gln169His) c.*469G>T (n.*469G>T) c.717G>T (p.Gln239His) c.720G>T (p.Gln240His) | dbSNP |
| X | g.154534355C= | CA2466724134 | G6PD | c.627G= (p.Gln209=) c.630G= (p.Gln210=) c.490G= c.493G= c.507G= (p.Gln169=) c.*469G= (n.*469G=) c.717G= (p.Gln239=) c.720G= (p.Gln240=) | |
| X | g.154534355C>G | CA415237725 | G6PD | c.627G>C (p.Gln209His) c.630G>C (p.Gln210His) c.490G>C c.493G>C c.507G>C (p.Gln169His) c.*469G>C (n.*469G>C) c.717G>C (p.Gln239His) c.720G>C (p.Gln240His) | |
| X | g.154534355C>T | CA519305590 | G6PD | c.627G>A (p.Gln209=) c.630G>A (p.Gln210=) c.490G>A c.493G>A c.507G>A (p.Gln169=) c.*469G>A (n.*469G>A) c.717G>A (p.Gln239=) c.720G>A (p.Gln240=) | dbSNP |
| X | g.154534356T>A | CA415237726 | G6PD | c.626A>T (p.Gln209Leu) c.629A>T (p.Gln210Leu) c.489A>T c.492A>T c.506A>T (p.Gln169Leu) c.*468A>T (n.*468A>T) c.716A>T (p.Gln239Leu) c.719A>T (p.Gln240Leu) | |
| X | g.154534356T>C | CA415237727 | G6PD | c.626A>G (p.Gln209Arg) c.629A>G (p.Gln210Arg) c.489A>G c.492A>G c.506A>G (p.Gln169Arg) c.*468A>G (n.*468A>G) c.716A>G (p.Gln239Arg) c.719A>G (p.Gln240Arg) | |
| X | g.154534356T>G | CA415237729 | G6PD | c.626A>C (p.Gln209Pro) c.629A>C (p.Gln210Pro) c.489A>C c.492A>C c.506A>C (p.Gln169Pro) c.*468A>C (n.*468A>C) c.716A>C (p.Gln239Pro) c.719A>C (p.Gln240Pro) | |
| X | g.154534357G>A | CA415237733 | G6PD | c.625C>T (p.Gln209Ter) c.628C>T (p.Gln210Ter) c.488C>T c.491C>T c.505C>T (p.Gln169Ter) c.*467C>T (n.*467C>T) c.715C>T (p.Gln239Ter) c.718C>T (p.Gln240Ter) | |
| X | g.154534357G>C | CA415237734 | G6PD | c.625C>G (p.Gln209Glu) c.628C>G (p.Gln210Glu) c.488C>G c.491C>G c.505C>G (p.Gln169Glu) c.*467C>G (n.*467C>G) c.715C>G (p.Gln239Glu) c.718C>G (p.Gln240Glu) | |
| X | g.154534357G>T | CA415237731 | G6PD | c.625C>A (p.Gln209Lys) c.628C>A (p.Gln210Lys) c.488C>A c.491C>A c.505C>A (p.Gln169Lys) c.*467C>A (n.*467C>A) c.715C>A (p.Gln239Lys) c.718C>A (p.Gln240Lys) | |
| X | g.154534358C>A | CA519305599 | G6PD | c.624G>T (p.Val208=) c.627G>T (p.Val209=) c.487G>T c.490G>T c.504G>T (p.Val168=) c.*466G>T (n.*466G>T) c.714G>T (p.Val238=) c.717G>T (p.Val239=) | dbSNP |
| X | g.154534358C= | CA2466724135 | G6PD | c.624G= (p.Val208=) c.627G= (p.Val209=) c.487G= c.490G= c.504G= (p.Val168=) c.*466G= (n.*466G=) c.714G= (p.Val238=) c.717G= (p.Val239=) | |
| X | g.154534358C>G | CA519305601 | G6PD | c.624G>C (p.Val208=) c.627G>C (p.Val209=) c.487G>C c.490G>C c.504G>C (p.Val168=) c.*466G>C (n.*466G>C) c.714G>C (p.Val238=) c.717G>C (p.Val239=) | |
| X | g.154534358C>T | CA519305598 | G6PD | c.624G>A (p.Val208=) c.627G>A (p.Val209=) c.487G>A c.490G>A c.504G>A (p.Val168=) c.*466G>A (n.*466G>A) c.714G>A (p.Val238=) c.717G>A (p.Val239=) | dbSNP gnomAD v4 |
| X | g.154534359A>C | CA415237735 | G6PD | c.623T>G (p.Val208Gly) c.626T>G (p.Val209Gly) c.486T>G c.489T>G c.503T>G (p.Val168Gly) c.*465T>G (n.*465T>G) c.713T>G (p.Val238Gly) c.716T>G (p.Val239Gly) | |
| X | g.154534359A>G | CA415237737 | G6PD | c.623T>C (p.Val208Ala) c.626T>C (p.Val209Ala) c.486T>C c.489T>C c.503T>C (p.Val168Ala) c.*465T>C (n.*465T>C) c.713T>C (p.Val238Ala) c.716T>C (p.Val239Ala) | |
| X | g.154534359A>T | CA415237738 | G6PD | c.623T>A (p.Val208Glu) c.626T>A (p.Val209Glu) c.486T>A c.489T>A c.503T>A (p.Val168Glu) c.*465T>A (n.*465T>A) c.713T>A (p.Val238Glu) c.716T>A (p.Val239Glu) | |
| X | g.154534360C>A | CA415237740 | G6PD | c.622G>T (p.Val208Leu) c.625G>T (p.Val209Leu) c.485G>T c.488G>T c.502G>T (p.Val168Leu) c.*464G>T (n.*464G>T) c.712G>T (p.Val238Leu) c.715G>T (p.Val239Leu) | |
| X | g.154534360C>G | CA415237742 | G6PD | c.622G>C (p.Val208Leu) c.625G>C (p.Val209Leu) c.485G>C c.488G>C c.502G>C (p.Val168Leu) c.*464G>C (n.*464G>C) c.712G>C (p.Val238Leu) c.715G>C (p.Val239Leu) | |
| X | g.154534360C>T | CA415237743 | G6PD | c.622G>A (p.Val208Met) c.625G>A (p.Val209Met) c.485G>A c.488G>A c.502G>A (p.Val168Met) c.*464G>A (n.*464G>A) c.712G>A (p.Val238Met) c.715G>A (p.Val239Met) | |
| X | g.154534361C>A | CA415237745 | G6PD | c.621G>T (p.Met207Ile) c.624G>T (p.Met208Ile) c.484G>T c.487G>T c.501G>T (p.Met167Ile) c.*463G>T (n.*463G>T) c.711G>T (p.Met237Ile) c.714G>T (p.Met238Ile) | |
| X | g.154534361C= | CA2466724136 | G6PD | c.621G= (p.Met207=) c.624G= (p.Met208=) c.484G= c.487G= c.501G= (p.Met167=) c.*463G= (n.*463G=) c.711G= (p.Met237=) c.714G= (p.Met238=) | |
| X | g.154534361C>G | CA415237746 | G6PD | c.621G>C (p.Met207Ile) c.624G>C (p.Met208Ile) c.484G>C c.487G>C c.501G>C (p.Met167Ile) c.*463G>C (n.*463G>C) c.711G>C (p.Met237Ile) c.714G>C (p.Met238Ile) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154534361C>T | CA415237748 | G6PD | c.621G>A (p.Met207Ile) c.624G>A (p.Met208Ile) c.484G>A c.487G>A c.501G>A (p.Met167Ile) c.*463G>A (n.*463G>A) c.711G>A (p.Met237Ile) c.714G>A (p.Met238Ile) | |
| X | g.154534362A= | CA2466724137 | G6PD | c.620T= (p.Met207=) c.623T= (p.Met208=) c.483T= c.486T= c.500T= (p.Met167=) c.*462T= (n.*462T=) c.710T= (p.Met237=) c.713T= (p.Met238=) | |
| X | g.154534362A>C | CA415237749 | G6PD | c.620T>G (p.Met207Arg) c.623T>G (p.Met208Arg) c.483T>G c.486T>G c.500T>G (p.Met167Arg) c.*462T>G (n.*462T>G) c.710T>G (p.Met237Arg) c.713T>G (p.Met238Arg) | |
| X | g.154534362A>G | CA415237751 | G6PD | c.620T>C (p.Met207Thr) c.623T>C (p.Met208Thr) c.483T>C c.486T>C c.500T>C (p.Met167Thr) c.*462T>C (n.*462T>C) c.710T>C (p.Met237Thr) c.713T>C (p.Met238Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154534362A>T | CA415237752 | G6PD | c.620T>A (p.Met207Lys) c.623T>A (p.Met208Lys) c.483T>A c.486T>A c.500T>A (p.Met167Lys) c.*462T>A (n.*462T>A) c.710T>A (p.Met237Lys) c.713T>A (p.Met238Lys) | |
| X | g.154534363T>A | CA415237756 | G6PD | c.619A>T (p.Met207Leu) c.622A>T (p.Met208Leu) c.482A>T c.485A>T c.499A>T (p.Met167Leu) c.*461A>T (n.*461A>T) c.709A>T (p.Met237Leu) c.712A>T (p.Met238Leu) | dbSNP |
| X | g.154534363T>C | CA415237753 | G6PD | c.619A>G (p.Met207Val) c.622A>G (p.Met208Val) c.482A>G c.485A>G c.499A>G (p.Met167Val) c.*461A>G (n.*461A>G) c.709A>G (p.Met237Val) c.712A>G (p.Met238Val) | |
| X | g.154534363T>G | CA415237755 | G6PD | c.619A>C (p.Met207Leu) c.622A>C (p.Met208Leu) c.482A>C c.485A>C c.499A>C (p.Met167Leu) c.*461A>C (n.*461A>C) c.709A>C (p.Met237Leu) c.712A>C (p.Met238Leu) | |
| X | g.154534363T= | CA2466724138 | G6PD | c.619A= (p.Met207=) c.622A= (p.Met208=) c.482A= c.485A= c.499A= (p.Met167=) c.*461A= (n.*461A=) c.709A= (p.Met237=) c.712A= (p.Met238=) | |
| X | g.154534364C>A | CA415237758 | G6PD | c.618G>T (p.Glu206Asp) c.621G>T (p.Glu207Asp) c.481G>T c.484G>T c.498G>T (p.Glu166Asp) c.*460G>T (n.*460G>T) c.708G>T (p.Glu236Asp) c.711G>T (p.Glu237Asp) | |
| X | g.154534364C= | CA2466724139 | G6PD | c.618G= (p.Glu206=) c.621G= (p.Glu207=) c.481G= c.484G= c.498G= (p.Glu166=) c.*460G= (n.*460G=) c.708G= (p.Glu236=) c.711G= (p.Glu237=) | |
| X | g.154534364C>G | CA415237759 | G6PD | c.618G>C (p.Glu206Asp) c.621G>C (p.Glu207Asp) c.481G>C c.484G>C c.498G>C (p.Glu166Asp) c.*460G>C (n.*460G>C) c.708G>C (p.Glu236Asp) c.711G>C (p.Glu237Asp) | |
| X | g.154534364C>T | CA519305616 | G6PD | c.618G>A (p.Glu206=) c.621G>A (p.Glu207=) c.481G>A c.484G>A c.498G>A (p.Glu166=) c.*460G>A (n.*460G>A) c.708G>A (p.Glu236=) c.711G>A (p.Glu237=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154534365T>A | CA415237761 | G6PD | c.617A>T (p.Glu206Val) c.620A>T (p.Glu207Val) c.480A>T c.483A>T c.497A>T (p.Glu166Val) c.*459A>T (n.*459A>T) c.707A>T (p.Glu236Val) c.710A>T (p.Glu237Val) | |
| X | g.154534365T>C | CA415237762 | G6PD | c.617A>G (p.Glu206Gly) c.620A>G (p.Glu207Gly) c.480A>G c.483A>G c.497A>G (p.Glu166Gly) c.*459A>G (n.*459A>G) c.707A>G (p.Glu236Gly) c.710A>G (p.Glu237Gly) | |
| X | g.154534365T>G | CA415237764 | G6PD | c.617A>C (p.Glu206Ala) c.620A>C (p.Glu207Ala) c.480A>C c.483A>C c.497A>C (p.Glu166Ala) c.*459A>C (n.*459A>C) c.707A>C (p.Glu236Ala) c.710A>C (p.Glu237Ala) | |
| X | g.154534366C>A | CA415237766 | G6PD | c.616G>T (p.Glu206Ter) c.619G>T (p.Glu207Ter) c.479G>T c.482G>T c.496G>T (p.Glu166Ter) c.*458G>T (n.*458G>T) c.706G>T (p.Glu236Ter) c.709G>T (p.Glu237Ter) | |
| X | g.154534366C>G | CA415237767 | G6PD | c.616G>C (p.Glu206Gln) c.619G>C (p.Glu207Gln) c.479G>C c.482G>C c.496G>C (p.Glu166Gln) c.*458G>C (n.*458G>C) c.706G>C (p.Glu236Gln) c.709G>C (p.Glu237Gln) | |
| X | g.154534366C>T | CA415237769 | G6PD | c.616G>A (p.Glu206Lys) c.619G>A (p.Glu207Lys) c.479G>A c.482G>A c.496G>A (p.Glu166Lys) c.*458G>A (n.*458G>A) c.706G>A (p.Glu236Lys) c.709G>A (p.Glu237Lys) | |
| X | g.154534367C>A | CA415237771 | G6PD | c.615G>T (p.Lys205Asn) c.618G>T (p.Lys206Asn) c.478G>T c.481G>T c.495G>T (p.Lys165Asn) c.*457G>T (n.*457G>T) c.705G>T (p.Lys235Asn) c.708G>T (p.Lys236Asn) | |
| X | g.154534367C= | CA2466724140 | G6PD | c.615G= (p.Lys205=) c.618G= (p.Lys206=) c.478G= c.481G= c.495G= (p.Lys165=) c.*457G= (n.*457G=) c.705G= (p.Lys235=) c.708G= (p.Lys236=) | |
| X | g.154534367C>G | CA415237772 | G6PD | c.615G>C (p.Lys205Asn) c.618G>C (p.Lys206Asn) c.478G>C c.481G>C c.495G>C (p.Lys165Asn) c.*457G>C (n.*457G>C) c.705G>C (p.Lys235Asn) c.708G>C (p.Lys236Asn) | |
| X | g.154534367C>T | CA519305626 | G6PD | c.615G>A (p.Lys205=) c.618G>A (p.Lys206=) c.478G>A c.481G>A c.495G>A (p.Lys165=) c.*457G>A (n.*457G>A) c.705G>A (p.Lys235=) c.708G>A (p.Lys236=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154534368T>A | CA415237773 | G6PD | c.614A>T (p.Lys205Met) c.617A>T (p.Lys206Met) c.477A>T c.480A>T c.494A>T (p.Lys165Met) c.*456A>T (n.*456A>T) c.704A>T (p.Lys235Met) c.707A>T (p.Lys236Met) | |
| X | g.154534368T>C | CA415237774 | G6PD | c.614A>G (p.Lys205Arg) c.617A>G (p.Lys206Arg) c.477A>G c.480A>G c.494A>G (p.Lys165Arg) c.*456A>G (n.*456A>G) c.704A>G (p.Lys235Arg) c.707A>G (p.Lys236Arg) | gnomAD v4 |
| X | g.154534368T>G | CA415237775 | G6PD | c.614A>C (p.Lys205Thr) c.617A>C (p.Lys206Thr) c.477A>C c.480A>C c.494A>C (p.Lys165Thr) c.*456A>C (n.*456A>C) c.704A>C (p.Lys235Thr) c.707A>C (p.Lys236Thr) | |
| X | g.154534369T>A | CA415237777 | G6PD | c.613A>T (p.Lys205Ter) c.616A>T (p.Lys206Ter) c.476A>T c.479A>T c.493A>T (p.Lys165Ter) c.*455A>T (n.*455A>T) c.703A>T (p.Lys235Ter) c.706A>T (p.Lys236Ter) | |
| X | g.154534369T>C | CA415237779 | G6PD | c.613A>G (p.Lys205Glu) c.616A>G (p.Lys206Glu) c.476A>G c.479A>G c.493A>G (p.Lys165Glu) c.*455A>G (n.*455A>G) c.703A>G (p.Lys235Glu) c.706A>G (p.Lys236Glu) | |
| X | g.154534369T>G | CA415237776 | G6PD | c.613A>C (p.Lys205Gln) c.616A>C (p.Lys206Gln) c.476A>C c.479A>C c.493A>C (p.Lys165Gln) c.*455A>C (n.*455A>C) c.703A>C (p.Lys235Gln) c.706A>C (p.Lys236Gln) | |
| X | g.154534370G>A | CA519305632 | G6PD | c.612C>T (p.Gly204=) c.615C>T (p.Gly205=) c.475C>T c.478C>T c.492C>T (p.Gly164=) c.*454C>T (n.*454C>T) c.702C>T (p.Gly234=) c.705C>T (p.Gly235=) | dbSNP |
| X | g.154534370G>C | CA519305633 | G6PD | c.612C>G (p.Gly204=) c.615C>G (p.Gly205=) c.475C>G c.478C>G c.492C>G (p.Gly164=) c.*454C>G (n.*454C>G) c.702C>G (p.Gly234=) c.705C>G (p.Gly235=) | |
| X | g.154534370G= | CA2466724141 | G6PD | c.612C= (p.Gly204=) c.615C= (p.Gly205=) c.475C= c.478C= c.492C= (p.Gly164=) c.*454C= (n.*454C=) c.702C= (p.Gly234=) c.705C= (p.Gly235=) | |
| X | g.154534370G>T | CA519305635 | G6PD | c.612C>A (p.Gly204=) c.615C>A (p.Gly205=) c.475C>A c.478C>A c.492C>A (p.Gly164=) c.*454C>A (n.*454C>A) c.702C>A (p.Gly234=) c.705C>A (p.Gly235=) | |
| X | g.154534371C>A | CA415237780 | G6PD | c.611G>T (p.Gly204Val) c.614G>T (p.Gly205Val) c.474G>T c.477G>T c.491G>T (p.Gly164Val) c.*453G>T (n.*453G>T) c.701G>T (p.Gly234Val) c.704G>T (p.Gly235Val) | |
| X | g.154534371C>G | CA415237782 | G6PD | c.611G>C (p.Gly204Ala) c.614G>C (p.Gly205Ala) c.474G>C c.477G>C c.491G>C (p.Gly164Ala) c.*453G>C (n.*453G>C) c.701G>C (p.Gly234Ala) c.704G>C (p.Gly235Ala) | |
| X | g.154534371C>T | CA415237781 | G6PD | c.611G>A (p.Gly204Asp) c.614G>A (p.Gly205Asp) c.474G>A c.477G>A c.491G>A (p.Gly164Asp) c.*453G>A (n.*453G>A) c.701G>A (p.Gly234Asp) c.704G>A (p.Gly235Asp) | ClinVar dbSNP |
| X | g.154534372C>A | CA415237785 | G6PD | c.610G>T (p.Gly204Cys) c.613G>T (p.Gly205Cys) c.473G>T c.476G>T c.490G>T (p.Gly164Cys) c.*452G>T (n.*452G>T) c.700G>T (p.Gly234Cys) c.703G>T (p.Gly235Cys) | |
| X | g.154534372C>G | CA415237788 | G6PD | c.610G>C (p.Gly204Arg) c.613G>C (p.Gly205Arg) c.473G>C c.476G>C c.490G>C (p.Gly164Arg) c.*452G>C (n.*452G>C) c.700G>C (p.Gly234Arg) c.703G>C (p.Gly235Arg) | |
| X | g.154534372C>T | CA415237787 | G6PD | c.610G>A (p.Gly204Ser) c.613G>A (p.Gly205Ser) c.473G>A c.476G>A c.490G>A (p.Gly164Ser) c.*452G>A (n.*452G>A) c.700G>A (p.Gly234Ser) c.703G>A (p.Gly235Ser) | |
| X | g.154534373C>A | CA519305644 | G6PD | c.609G>T (p.Leu203=) c.612G>T (p.Leu204=) c.472G>T c.475G>T c.489G>T (p.Leu163=) c.*451G>T (n.*451G>T) c.699G>T (p.Leu233=) c.702G>T (p.Leu234=) | |
| X | g.154534373C= | CA2466724142 | G6PD | c.609G= (p.Leu203=) c.612G= (p.Leu204=) c.472G= c.475G= c.489G= (p.Leu163=) c.*451G= (n.*451G=) c.699G= (p.Leu233=) c.702G= (p.Leu234=) | |
| X | g.154534373C>G | CA519305645 | G6PD | c.609G>C (p.Leu203=) c.612G>C (p.Leu204=) c.472G>C c.475G>C c.489G>C (p.Leu163=) c.*451G>C (n.*451G>C) c.699G>C (p.Leu233=) c.702G>C (p.Leu234=) | dbSNP |
| X | g.154534373C>T | CA519305646 | G6PD | c.609G>A (p.Leu203=) c.612G>A (p.Leu204=) c.472G>A c.475G>A c.489G>A (p.Leu163=) c.*451G>A (n.*451G>A) c.699G>A (p.Leu233=) c.702G>A (p.Leu234=) | |
| X | g.154534374A>C | CA415237789 | G6PD | c.608T>G (p.Leu203Arg) c.611T>G (p.Leu204Arg) c.471T>G c.474T>G c.488T>G (p.Leu163Arg) c.*450T>G (n.*450T>G) c.698T>G (p.Leu233Arg) c.701T>G (p.Leu234Arg) | |
| X | g.154534374A>G | CA415237793 | G6PD | c.608T>C (p.Leu203Pro) c.611T>C (p.Leu204Pro) c.471T>C c.474T>C c.488T>C (p.Leu163Pro) c.*450T>C (n.*450T>C) c.698T>C (p.Leu233Pro) c.701T>C (p.Leu234Pro) | |
| X | g.154534374A>T | CA415237791 | G6PD | c.608T>A (p.Leu203Gln) c.611T>A (p.Leu204Gln) c.471T>A c.474T>A c.488T>A (p.Leu163Gln) c.*450T>A (n.*450T>A) c.698T>A (p.Leu233Gln) c.701T>A (p.Leu234Gln) | |
| X | g.154534375G>A | CA519305652 | G6PD | c.607C>T (p.Leu203=) c.610C>T (p.Leu204=) c.470C>T c.473C>T c.487C>T (p.Leu163=) c.*449C>T (n.*449C>T) c.697C>T (p.Leu233=) c.700C>T (p.Leu234=) | |
| X | g.154534375G>C | CA415237794 | G6PD | c.607C>G (p.Leu203Val) c.610C>G (p.Leu204Val) c.470C>G c.473C>G c.487C>G (p.Leu163Val) c.*449C>G (n.*449C>G) c.697C>G (p.Leu233Val) c.700C>G (p.Leu234Val) | |
| X | g.154534375G>T | CA415237795 | G6PD | c.607C>A (p.Leu203Met) c.610C>A (p.Leu204Met) c.470C>A c.473C>A c.487C>A (p.Leu163Met) c.*449C>A (n.*449C>A) c.697C>A (p.Leu233Met) c.700C>A (p.Leu234Met) | |
| X | g.154534376G>A | CA519305655 | G6PD | c.606C>T (p.Tyr202=) c.609C>T (p.Tyr203=) c.469C>T c.472C>T c.486C>T (p.Tyr162=) c.*448C>T (n.*448C>T) c.696C>T (p.Tyr232=) c.699C>T (p.Tyr233=) | ClinVar dbSNP |
| X | g.154534376G>C | CA415237797 | G6PD | c.606C>G (p.Tyr202Ter) c.609C>G (p.Tyr203Ter) c.469C>G c.472C>G c.486C>G (p.Tyr162Ter) c.*448C>G (n.*448C>G) c.696C>G (p.Tyr232Ter) c.699C>G (p.Tyr233Ter) | |
| X | g.154534376G= | CA2466724143 | G6PD | c.606C= (p.Tyr202=) c.609C= (p.Tyr203=) c.469C= c.472C= c.486C= (p.Tyr162=) c.*448C= (n.*448C=) c.696C= (p.Tyr232=) c.699C= (p.Tyr233=) | |
| X | g.154534376G>T | CA415237799 | G6PD | c.606C>A (p.Tyr202Ter) c.609C>A (p.Tyr203Ter) c.469C>A c.472C>A c.486C>A (p.Tyr162Ter) c.*448C>A (n.*448C>A) c.696C>A (p.Tyr232Ter) c.699C>A (p.Tyr233Ter) | |
| X | g.154534377T>A | CA415237801 | G6PD | c.605A>T (p.Tyr202Phe) c.608A>T (p.Tyr203Phe) c.468A>T c.471A>T c.485A>T (p.Tyr162Phe) c.*447A>T (n.*447A>T) c.695A>T (p.Tyr232Phe) c.698A>T (p.Tyr233Phe) | |
| X | g.154534377T>C | CA415237802 | G6PD | c.605A>G (p.Tyr202Cys) c.608A>G (p.Tyr203Cys) c.468A>G c.471A>G c.485A>G (p.Tyr162Cys) c.*447A>G (n.*447A>G) c.695A>G (p.Tyr232Cys) c.698A>G (p.Tyr233Cys) | |
| X | g.154534377T>G | CA415237804 | G6PD | c.605A>C (p.Tyr202Ser) c.608A>C (p.Tyr203Ser) c.468A>C c.471A>C c.485A>C (p.Tyr162Ser) c.*447A>C (n.*447A>C) c.695A>C (p.Tyr232Ser) c.698A>C (p.Tyr233Ser) | |
| X | g.154534378A>C | CA415237806 | G6PD | c.604T>G (p.Tyr202Asp) c.607T>G (p.Tyr203Asp) c.467T>G c.470T>G c.484T>G (p.Tyr162Asp) c.*446T>G (n.*446T>G) c.694T>G (p.Tyr232Asp) c.697T>G (p.Tyr233Asp) | |
| X | g.154534378A>G | CA415237808 | G6PD | c.604T>C (p.Tyr202His) c.607T>C (p.Tyr203His) c.467T>C c.470T>C c.484T>C (p.Tyr162His) c.*446T>C (n.*446T>C) c.694T>C (p.Tyr232His) c.697T>C (p.Tyr233His) | |
| X | g.154534378A>T | CA415237809 | G6PD | c.604T>A (p.Tyr202Asn) c.607T>A (p.Tyr203Asn) c.467T>A c.470T>A c.484T>A (p.Tyr162Asn) c.*446T>A (n.*446T>A) c.694T>A (p.Tyr232Asn) c.697T>A (p.Tyr233Asn) | |
| X | g.154534379G>A | CA519305664 | G6PD | c.603C>T (p.His201=) c.606C>T (p.His202=) c.466C>T c.469C>T c.483C>T (p.His161=) c.*445C>T (n.*445C>T) c.693C>T (p.His231=) c.696C>T (p.His232=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154534379G>C | CA415237810 | G6PD | c.603C>G (p.His201Gln) c.606C>G (p.His202Gln) c.466C>G c.469C>G c.483C>G (p.His161Gln) c.*445C>G (n.*445C>G) c.693C>G (p.His231Gln) c.696C>G (p.His232Gln) | |
| X | g.154534379G= | CA2466724144 | G6PD | c.603C= (p.His201=) c.606C= (p.His202=) c.466C= c.469C= c.483C= (p.His161=) c.*445C= (n.*445C=) c.693C= (p.His231=) c.696C= (p.His232=) | |
| X | g.154534379G>T | CA415237812 | G6PD | c.603C>A (p.His201Gln) c.606C>A (p.His202Gln) c.466C>A c.469C>A c.483C>A (p.His161Gln) c.*445C>A (n.*445C>A) c.693C>A (p.His231Gln) c.696C>A (p.His232Gln) | |
| X | g.154534380T>A | CA415237814 | G6PD | c.602A>T (p.His201Leu) c.605A>T (p.His202Leu) c.465A>T c.468A>T c.482A>T (p.His161Leu) c.*444A>T (n.*444A>T) c.692A>T (p.His231Leu) c.695A>T (p.His232Leu) | |
| X | g.154534380T>C | CA415237817 | G6PD | c.602A>G (p.His201Arg) c.605A>G (p.His202Arg) c.465A>G c.468A>G c.482A>G (p.His161Arg) c.*444A>G (n.*444A>G) c.692A>G (p.His231Arg) c.695A>G (p.His232Arg) | |
| X | g.154534380T>G | CA415237816 | G6PD | c.602A>C (p.His201Pro) c.605A>C (p.His202Pro) c.465A>C c.468A>C c.482A>C (p.His161Pro) c.*444A>C (n.*444A>C) c.692A>C (p.His231Pro) c.695A>C (p.His232Pro) | |
| X | g.154534381G>A | CA415237819 | G6PD | c.601C>T (p.His201Tyr) c.604C>T (p.His202Tyr) c.464C>T c.467C>T c.481C>T (p.His161Tyr) c.*443C>T (n.*443C>T) c.691C>T (p.His231Tyr) c.694C>T (p.His232Tyr) | |
| X | g.154534381G>C | CA415237821 | G6PD | c.601C>G (p.His201Asp) c.604C>G (p.His202Asp) c.464C>G c.467C>G c.481C>G (p.His161Asp) c.*443C>G (n.*443C>G) c.691C>G (p.His231Asp) c.694C>G (p.His232Asp) | |
| X | g.154534381G>T | CA415237822 | G6PD | c.601C>A (p.His201Asn) c.604C>A (p.His202Asn) c.464C>A c.467C>A c.481C>A (p.His161Asn) c.*443C>A (n.*443C>A) c.691C>A (p.His231Asn) c.694C>A (p.His232Asn) | |
| X | g.154534382G>A | CA519305672 | G6PD | c.600C>T (p.Asp200=) c.603C>T (p.Asp201=) c.463C>T c.466C>T c.480C>T (p.Asp160=) c.*442C>T (n.*442C>T) c.690C>T (p.Asp230=) c.693C>T (p.Asp231=) | dbSNP |
| X | g.154534382G>C | CA415237823 | G6PD | c.600C>G (p.Asp200Glu) c.603C>G (p.Asp201Glu) c.463C>G c.466C>G c.480C>G (p.Asp160Glu) c.*442C>G (n.*442C>G) c.690C>G (p.Asp230Glu) c.693C>G (p.Asp231Glu) | |
| X | g.154534382G= | CA2466724145 | G6PD | c.600C= (p.Asp200=) c.603C= (p.Asp201=) c.463C= c.466C= c.480C= (p.Asp160=) c.*442C= (n.*442C=) c.690C= (p.Asp230=) c.693C= (p.Asp231=) | |
| X | g.154534382G>T | CA415237824 | G6PD | c.600C>A (p.Asp200Glu) c.603C>A (p.Asp201Glu) c.463C>A c.466C>A c.480C>A (p.Asp160Glu) c.*442C>A (n.*442C>A) c.690C>A (p.Asp230Glu) c.693C>A (p.Asp231Glu) | |
| X | g.154534383T>A | CA415237825 | G6PD | c.599A>T (p.Asp200Val) c.602A>T (p.Asp201Val) c.462A>T c.465A>T c.479A>T (p.Asp160Val) c.*441A>T (n.*441A>T) c.689A>T (p.Asp230Val) c.692A>T (p.Asp231Val) | |
| X | g.154534383T>C | CA415237826 | G6PD | c.599A>G (p.Asp200Gly) c.602A>G (p.Asp201Gly) c.462A>G c.465A>G c.479A>G (p.Asp160Gly) c.*441A>G (n.*441A>G) c.689A>G (p.Asp230Gly) c.692A>G (p.Asp231Gly) | |
| X | g.154534383T>G | CA415237827 | G6PD | c.599A>C (p.Asp200Ala) c.602A>C (p.Asp201Ala) c.462A>C c.465A>C c.479A>C (p.Asp160Ala) c.*441A>C (n.*441A>C) c.689A>C (p.Asp230Ala) c.692A>C (p.Asp231Ala) | |
| X | g.154534384C>A | CA415237831 | G6PD | c.598G>T (p.Asp200Tyr) c.601G>T (p.Asp201Tyr) c.461G>T c.464G>T c.478G>T (p.Asp160Tyr) c.*440G>T (n.*440G>T) c.688G>T (p.Asp230Tyr) c.691G>T (p.Asp231Tyr) | |
| X | g.154534384C= | CA2466724146 | G6PD | c.598G= (p.Asp200=) c.601G= (p.Asp201=) c.461G= c.464G= c.478G= (p.Asp160=) c.*440G= (n.*440G=) c.688G= (p.Asp230=) c.691G= (p.Asp231=) | |
| X | g.154534384C>G | CA415237830 | G6PD | c.598G>C (p.Asp200His) c.601G>C (p.Asp201His) c.461G>C c.464G>C c.478G>C (p.Asp160His) c.*440G>C (n.*440G>C) c.688G>C (p.Asp230His) c.691G>C (p.Asp231His) | |
| X | g.154534384C>T | CA10566207 | G6PD | c.598G>A (p.Asp200Asn) c.601G>A (p.Asp201Asn) c.461G>A c.464G>A c.478G>A (p.Asp160Asn) c.*440G>A (n.*440G>A) c.688G>A (p.Asp230Asn) c.691G>A (p.Asp231Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154534386_154534387insCCCGGAAGACGTCGTCGGGACGCACGA | CA2505071573 | G6PD | c.598_599insTGCGTCCCGACGACGTCTTCCGGGTCG (p.Ile199_Asp200insValArgProAspAspValPheArgVal) c.601_602insTGCGTCCCGACGACGTCTTCCGGGTCG (p.Ile200_Asp201insValArgProAspAspValPheArgVal) c.461_462insTGCGTCCCGACGACGTCTTCCGGGTCG c.464_465insTGCGTCCCGACGACGTCTTCCGGGTCG c.478_479insTGCGTCCCGACGACGTCTTCCGGGTCG (p.Ile159_Asp160insValArgProAspAspValPheArgVal) c.*440_*441insTGCGTCCCGACGACGTCTTCCGGGTCG (n.*440_*441insTGCGTCCCGACGACGTCTTCCGGGTCG) c.688_689insTGCGTCCCGACGACGTCTTCCGGGTCG (p.Ile229_Asp230insValArgProAspAspValPheArgVal) c.691_692insTGCGTCCCGACGACGTCTTCCGGGTCG (p.Ile230_Asp231insValArgProAspAspValPheArgVal) | |
| X | g.154534385G>A | CA337317512 | G6PD | c.597C>T (p.Ile199=) c.600C>T (p.Ile200=) c.460C>T c.463C>T c.477C>T (p.Ile159=) c.*439C>T (n.*439C>T) c.687C>T (p.Ile229=) c.690C>T (p.Ile230=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154534385G>C | CA415237832 | G6PD | c.597C>G (p.Ile199Met) c.600C>G (p.Ile200Met) c.460C>G c.463C>G c.477C>G (p.Ile159Met) c.*439C>G (n.*439C>G) c.687C>G (p.Ile229Met) c.690C>G (p.Ile230Met) | |
| X | g.154534385G= | CA2466724147 | G6PD | c.597C= (p.Ile199=) c.600C= (p.Ile200=) c.460C= c.463C= c.477C= (p.Ile159=) c.*439C= (n.*439C=) c.687C= (p.Ile229=) c.690C= (p.Ile230=) | |
| X | g.154534385G>T | CA519305682 | G6PD | c.597C>A (p.Ile199=) c.600C>A (p.Ile200=) c.460C>A c.463C>A c.477C>A (p.Ile159=) c.*439C>A (n.*439C>A) c.687C>A (p.Ile229=) c.690C>A (p.Ile230=) | |
| X | g.154534386A>C | CA415237836 | G6PD | c.596T>G (p.Ile199Ser) c.599T>G (p.Ile200Ser) c.459T>G c.462T>G c.476T>G (p.Ile159Ser) c.*438T>G (n.*438T>G) c.686T>G (p.Ile229Ser) c.689T>G (p.Ile230Ser) | |
| X | g.154534386A>G | CA415237838 | G6PD | c.596T>C (p.Ile199Thr) c.599T>C (p.Ile200Thr) c.459T>C c.462T>C c.476T>C (p.Ile159Thr) c.*438T>C (n.*438T>C) c.686T>C (p.Ile229Thr) c.689T>C (p.Ile230Thr) | |
| X | g.154534386A>T | CA415237840 | G6PD | c.596T>A (p.Ile199Asn) c.599T>A (p.Ile200Asn) c.459T>A c.462T>A c.476T>A (p.Ile159Asn) c.*438T>A (n.*438T>A) c.686T>A (p.Ile229Asn) c.689T>A (p.Ile230Asn) | |
| X | g.154534387T>A | CA415237842 | G6PD | c.595A>T (p.Ile199Phe) c.598A>T (p.Ile200Phe) c.458A>T c.461A>T c.475A>T (p.Ile159Phe) c.*437A>T (n.*437A>T) c.685A>T (p.Ile229Phe) c.688A>T (p.Ile230Phe) | |
| X | g.154534387T>C | CA10566208 | G6PD | c.595A>G (p.Ile199Val) c.598A>G (p.Ile200Val) c.458A>G c.461A>G c.475A>G (p.Ile159Val) c.*437A>G (n.*437A>G) c.685A>G (p.Ile229Val) c.688A>G (p.Ile230Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154534387T>G | CA415237844 | G6PD | c.595A>C (p.Ile199Leu) c.598A>C (p.Ile200Leu) c.458A>C c.461A>C c.475A>C (p.Ile159Leu) c.*437A>C (n.*437A>C) c.685A>C (p.Ile229Leu) c.688A>C (p.Ile230Leu) | |
| X | g.154534387T= | CA2466724148 | G6PD | c.595A= (p.Ile199=) c.598A= (p.Ile200=) c.458A= c.461A= c.475A= (p.Ile159=) c.*437A= (n.*437A=) c.685A= (p.Ile229=) c.688A= (p.Ile230=) | |
| X | g.154534387_154534388del | CA2514007500 | G6PD | c.594_595del (p.Ile199ArgfsTer?) c.597_598del (p.Ile200ArgfsTer?) c.457_458del c.460_461del c.474_475del (p.Ile159ArgfsTer?) c.*436_*437del (n.*436_*437del) c.684_685del (p.Ile229ArgfsTer?) c.687_688del (p.Ile230ArgfsTer?) | |
| X | g.154534388G>A | CA337317523 | G6PD | c.594C>T (p.Arg198=) c.597C>T (p.Arg199=) c.457C>T c.460C>T c.474C>T (p.Arg158=) c.*436C>T (n.*436C>T) c.684C>T (p.Arg228=) c.687C>T (p.Arg229=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154534388G>C | CA519305690 | G6PD | c.594C>G (p.Arg198=) c.597C>G (p.Arg199=) c.457C>G c.460C>G c.474C>G (p.Arg158=) c.*436C>G (n.*436C>G) c.684C>G (p.Arg228=) c.687C>G (p.Arg229=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154534388G= | CA2466724149 | G6PD | c.594C= (p.Arg198=) c.597C= (p.Arg199=) c.457C= c.460C= c.474C= (p.Arg158=) c.*436C= (n.*436C=) c.684C= (p.Arg228=) c.687C= (p.Arg229=) | |
| X | g.154534388G>T | CA519305692 | G6PD | c.594C>A (p.Arg198=) c.597C>A (p.Arg199=) c.457C>A c.460C>A c.474C>A (p.Arg158=) c.*436C>A (n.*436C>A) c.684C>A (p.Arg228=) c.687C>A (p.Arg229=) | |
| X | g.154534388_154534389insA | CA10566209 | G6PD | c.593_594insT (p.Ile199HisfsTer?) c.596_597insT (p.Ile200HisfsTer?) c.456_457insT c.459_460insT c.473_474insT (p.Ile159HisfsTer?) c.*435_*436insT (n.*435_*436insT) c.683_684insT (p.Ile229HisfsTer?) c.686_687insT (p.Ile230HisfsTer?) | dbSNP ExAC |
| X | g.154534389C>A | CA415237848 | G6PD | c.593G>T (p.Arg198Leu) c.596G>T (p.Arg199Leu) c.456G>T c.459G>T c.473G>T (p.Arg158Leu) c.*435G>T (n.*435G>T) c.683G>T (p.Arg228Leu) c.686G>T (p.Arg229Leu) | |
| X | g.154534389C= | CA2466724150 | G6PD | c.593G= (p.Arg198=) c.596G= (p.Arg199=) c.456G= c.459G= c.473G= (p.Arg158=) c.*435G= (n.*435G=) c.683G= (p.Arg228=) c.686G= (p.Arg229=) | |
| X | g.154534389C>G | CA121002 | G6PD | c.593G>C (p.Arg198Pro) c.596G>C (p.Arg199Pro) c.456G>C c.459G>C c.473G>C (p.Arg158Pro) c.*435G>C (n.*435G>C) c.683G>C (p.Arg228Pro) c.686G>C (p.Arg229Pro) | ClinVar dbSNP |
| X | g.154534389C>T | CA121057 | G6PD | c.593G>A (p.Arg198His) c.596G>A (p.Arg199His) c.456G>A c.459G>A c.473G>A (p.Arg158His) c.*435G>A (n.*435G>A) c.683G>A (p.Arg228His) c.686G>A (p.Arg229His) | ClinVar dbSNP gnomAD v4 |
| X | g.154534389_154534390insTCCTCGGGGTTGAAGAACATGCCCGGCTTCTTGGTCATCATCTT | CA10566210 | G6PD | c.592_593insAAGATGATGACCAAGAAGCCGGGCATGTTCTTCAACCCCGAGGA (p.Arg198GlnfsTer32) c.595_596insAAGATGATGACCAAGAAGCCGGGCATGTTCTTCAACCCCGAGGA (p.Arg199GlnfsTer32) c.455_456insAAGATGATGACCAAGAAGCCGGGCATGTTCTTCAACCCCGAGGA c.458_459insAAGATGATGACCAAGAAGCCGGGCATGTTCTTCAACCCCGAGGA c.472_473insAAGATGATGACCAAGAAGCCGGGCATGTTCTTCAACCCCGAGGA (p.Arg158GlnfsTer32) c.*434_*435insAAGATGATGACCAAGAAGCCGGGCATGTTCTTCAACCCCGAGGA (n.*434_*435insAAGATGATGACCAAGAAGCCGGGCATGTTCTTCAACCCCGAGGA) c.682_683insAAGATGATGACCAAGAAGCCGGGCATGTTCTTCAACCCCGAGGA (p.Arg228GlnfsTer32) c.685_686insAAGATGATGACCAAGAAGCCGGGCATGTTCTTCAACCCCGAGGA (p.Arg229GlnfsTer32) | dbSNP ExAC |
| 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]) | |
| 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_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 |
| 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?) | |
| X | g.154534404del | CA2521223809 | G6PD | c.578del (p.Glu193GlyfsTer22) c.581del (p.Glu194GlyfsTer22) c.441del c.444del c.458del (p.Glu153GlyfsTer22) c.*420del (n.*420del) c.668del (p.Glu223GlyfsTer22) c.671del (p.Glu224GlyfsTer22) | |
| X | g.154534404T>A | CA415237905 | G6PD | c.578A>T (p.Glu193Val) c.581A>T (p.Glu194Val) c.441A>T c.444A>T c.458A>T (p.Glu153Val) c.*420A>T (n.*420A>T) c.668A>T (p.Glu223Val) c.671A>T (p.Glu224Val) | |
| X | g.154534404T>C | CA415237907 | G6PD | c.578A>G (p.Glu193Gly) c.581A>G (p.Glu194Gly) c.441A>G c.444A>G c.458A>G (p.Glu153Gly) c.*420A>G (n.*420A>G) c.668A>G (p.Glu223Gly) c.671A>G (p.Glu224Gly) | |
| X | g.154534404T>G | CA415237908 | G6PD | c.578A>C (p.Glu193Ala) c.581A>C (p.Glu194Ala) c.441A>C c.444A>C c.458A>C (p.Glu153Ala) c.*420A>C (n.*420A>C) c.668A>C (p.Glu223Ala) c.671A>C (p.Glu224Ala) | |
| X | g.154534404dup | CA2515045523 | G6PD | c.578dup (p.Asp194GlyfsTer?) c.581dup (p.Asp195GlyfsTer?) c.441dup c.444dup c.458dup (p.Asp154GlyfsTer?) c.*420dup (n.*420dup) c.668dup (p.Asp224GlyfsTer?) c.671dup (p.Asp225GlyfsTer?) | |
| X | g.154534404_154534406del | CA2824282545 | G6PD | c.576_578del (p.Glu193del) c.579_581del (p.Glu194del) c.439_441del c.442_444del c.456_458del (p.Glu153del) c.*418_*420del (n.*418_*420del) c.666_668del (p.Glu223del) c.669_671del (p.Glu224del) | |
| X | g.154534404_154534405insGCGC | CA2824282547 | G6PD | c.577_578insGCGC (p.Glu193GlyfsTer?) c.580_581insGCGC (p.Glu194GlyfsTer?) c.440_441insGCGC c.443_444insGCGC c.457_458insGCGC (p.Glu153GlyfsTer?) c.*419_*420insGCGC (n.*419_*420insGCGC) c.667_668insGCGC (p.Glu223GlyfsTer?) c.670_671insGCGC (p.Glu224GlyfsTer?) | |
| X | g.154534405C>A | CA415237911 | G6PD | c.577G>T (p.Glu193Ter) c.580G>T (p.Glu194Ter) c.440G>T c.443G>T c.457G>T (p.Glu153Ter) c.*419G>T (n.*419G>T) c.667G>T (p.Glu223Ter) c.670G>T (p.Glu224Ter) | |
| X | g.154534405C>G | CA415237913 | G6PD | c.577G>C (p.Glu193Gln) c.580G>C (p.Glu194Gln) c.440G>C c.443G>C c.457G>C (p.Glu153Gln) c.*419G>C (n.*419G>C) c.667G>C (p.Glu223Gln) c.670G>C (p.Glu224Gln) | |
| X | g.154534405C>T | CA415237910 | G6PD | c.577G>A (p.Glu193Lys) c.580G>A (p.Glu194Lys) c.440G>A c.443G>A c.457G>A (p.Glu153Lys) c.*419G>A (n.*419G>A) c.667G>A (p.Glu223Lys) c.670G>A (p.Glu224Lys) | |
| X | g.154534406_154534407del | CA2526831304 | G6PD | c.576_577del (p.Glu193GlyfsTer?) c.579_580del (p.Glu194GlyfsTer?) c.439_440del c.442_443del c.456_457del (p.Glu153GlyfsTer?) c.*418_*419del (n.*418_*419del) c.666_667del (p.Glu223GlyfsTer?) c.669_670del (p.Glu224GlyfsTer?) | |
| X | g.154534405_154534406insGT | CA2546488303 | G6PD | c.576_577insAC (p.Glu193ThrfsTer23) c.579_580insAC (p.Glu194ThrfsTer23) c.439_440insAC c.442_443insAC c.456_457insAC (p.Glu153ThrfsTer23) c.*418_*419insAC (n.*418_*419insAC) c.666_667insAC (p.Glu223ThrfsTer23) c.669_670insAC (p.Glu224ThrfsTer23) | |
| X | g.154534405_154534406insGGG | CA2512924714 | G6PD | c.576_577insCCC (p.Arg192_Glu193insPro) c.579_580insCCC (p.Arg193_Glu194insPro) c.439_440insCCC c.442_443insCCC c.456_457insCCC (p.Arg152_Glu153insPro) c.*418_*419insCCC (n.*418_*419insCCC) c.666_667insCCC (p.Arg222_Glu223insPro) c.669_670insCCC (p.Arg223_Glu224insPro) | |
| X | g.154534406A>C | CA519305746 | G6PD | c.576T>G (p.Arg192=) c.579T>G (p.Arg193=) c.439T>G c.442T>G c.456T>G (p.Arg152=) c.*418T>G (n.*418T>G) c.666T>G (p.Arg222=) c.669T>G (p.Arg223=) | |
| X | g.154534406A>G | CA519305744 | G6PD | c.576T>C (p.Arg192=) c.579T>C (p.Arg193=) c.439T>C c.442T>C c.456T>C (p.Arg152=) c.*418T>C (n.*418T>C) c.666T>C (p.Arg222=) c.669T>C (p.Arg223=) | |
| X | g.154534406A>T | CA519305748 | G6PD | c.576T>A (p.Arg192=) c.579T>A (p.Arg193=) c.439T>A c.442T>A c.456T>A (p.Arg152=) c.*418T>A (n.*418T>A) c.666T>A (p.Arg222=) c.669T>A (p.Arg223=) | |
| X | g.154534406_154534408del | CA2527501880 | G6PD | c.574_576del (p.Arg192del) c.577_579del (p.Arg193del) c.437_439del c.440_442del c.454_456del (p.Arg152del) c.*416_*418del (n.*416_*418del) c.664_666del (p.Arg222del) c.667_669del (p.Arg223del) | gnomAD v4 |
| X | g.154534406_154534413del | CA1138582996 | G6PD | c.569_576del (p.Leu190ArgfsTer?) c.572_579del (p.Leu191ArgfsTer?) c.432_439del c.435_442del c.449_456del (p.Leu150ArgfsTer?) c.*411_*418del (n.*411_*418del) c.659_666del (p.Leu220ArgfsTer?) c.662_669del (p.Leu221ArgfsTer?) | gnomAD v3 gnomAD v4 |
| X | g.154534407C>A | CA415237914 | G6PD | c.575G>T (p.Arg192Leu) c.578G>T (p.Arg193Leu) c.438G>T c.441G>T c.455G>T (p.Arg152Leu) c.*417G>T (n.*417G>T) c.665G>T (p.Arg222Leu) c.668G>T (p.Arg223Leu) | dbSNP |
| X | g.154534407C= | CA2466724163 | G6PD | c.575G= (p.Arg192=) c.578G= (p.Arg193=) c.438G= c.441G= c.455G= (p.Arg152=) c.*417G= (n.*417G=) c.665G= (p.Arg222=) c.668G= (p.Arg223=) | |
| X | g.154534407C>G | CA415237916 | G6PD | c.575G>C (p.Arg192Pro) c.578G>C (p.Arg193Pro) c.438G>C c.441G>C c.455G>C (p.Arg152Pro) c.*417G>C (n.*417G>C) c.665G>C (p.Arg222Pro) c.668G>C (p.Arg223Pro) | |
| X | g.154534407C>T | CA10566212 | G6PD | c.575G>A (p.Arg192His) c.578G>A (p.Arg193His) c.438G>A c.441G>A c.455G>A (p.Arg152His) c.*417G>A (n.*417G>A) c.665G>A (p.Arg222His) c.668G>A (p.Arg223His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154534408G>A | CA415237917 | G6PD | c.574C>T (p.Arg192Cys) c.577C>T (p.Arg193Cys) c.437C>T c.440C>T c.454C>T (p.Arg152Cys) c.*416C>T (n.*416C>T) c.664C>T (p.Arg222Cys) c.667C>T (p.Arg223Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| X | g.154534408G>C | CA415237919 | G6PD | c.574C>G (p.Arg192Gly) c.577C>G (p.Arg193Gly) c.437C>G c.440C>G c.454C>G (p.Arg152Gly) c.*416C>G (n.*416C>G) c.664C>G (p.Arg222Gly) c.667C>G (p.Arg223Gly) | |
| X | g.154534408G= | CA2466724164 | G6PD | c.574C= (p.Arg192=) c.577C= (p.Arg193=) c.437C= c.440C= c.454C= (p.Arg152=) c.*416C= (n.*416C=) c.664C= (p.Arg222=) c.667C= (p.Arg223=) | |
| X | g.154534408G>T | CA415237921 | G6PD | c.574C>A (p.Arg192Ser) c.577C>A (p.Arg193Ser) c.437C>A c.440C>A c.454C>A (p.Arg152Ser) c.*416C>A (n.*416C>A) c.664C>A (p.Arg222Ser) c.667C>A (p.Arg223Ser) | |
| X | g.154534409del | CA2503396226 | G6PD | c.574del (p.Arg192ValfsTer23) c.577del (p.Arg193ValfsTer23) c.437del c.440del c.454del (p.Arg152ValfsTer23) c.*416del (n.*416del) c.664del (p.Arg222ValfsTer23) c.667del (p.Arg223ValfsTer23) | |
| X | g.154534408_154534409insAT | CA2824282559 | G6PD | c.573_574insAT (p.Arg192IlefsTer24) c.576_577insAT (p.Arg193IlefsTer24) c.436_437insAT c.439_440insAT c.453_454insAT (p.Arg152IlefsTer24) c.*415_*416insAT (n.*415_*416insAT) c.663_664insAT (p.Arg222IlefsTer24) c.666_667insAT (p.Arg223IlefsTer24) | |
| X | g.154534408_154534409insTC | CA2569996470 | G6PD | c.573_574insGA (p.Arg192AspfsTer24) c.576_577insGA (p.Arg193AspfsTer24) c.436_437insGA c.439_440insGA c.453_454insGA (p.Arg152AspfsTer24) c.*415_*416insGA (n.*415_*416insGA) c.663_664insGA (p.Arg222AspfsTer24) c.666_667insGA (p.Arg223AspfsTer24) | |
| X | g.154534408_154534409insCAC | CA2559806357 | G6PD | c.573_574insGTG (p.Phe191_Arg192insVal) c.576_577insGTG (p.Phe192_Arg193insVal) c.436_437insGTG c.439_440insGTG c.453_454insGTG (p.Phe151_Arg152insVal) c.*415_*416insGTG (n.*415_*416insGTG) c.663_664insGTG (p.Phe221_Arg222insVal) c.666_667insGTG (p.Phe222_Arg223insVal) | |
| X | g.154534408_154534409insATCC | CA2536129949 | G6PD | c.573_574insGGAT (p.Arg192GlyfsTer3) c.576_577insGGAT (p.Arg193GlyfsTer3) c.436_437insGGAT c.439_440insGGAT c.453_454insGGAT (p.Arg152GlyfsTer3) c.*415_*416insGGAT (n.*415_*416insGGAT) c.663_664insGGAT (p.Arg222GlyfsTer3) c.666_667insGGAT (p.Arg223GlyfsTer3) | |
| X | g.154534409G>A | CA10566213 | G6PD | c.573C>T (p.Phe191=) c.576C>T (p.Phe192=) c.436C>T c.439C>T c.453C>T (p.Phe151=) c.*415C>T (n.*415C>T) c.663C>T (p.Phe221=) c.666C>T (p.Phe222=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154534409G>C | CA415237923 | G6PD | c.573C>G (p.Phe191Leu) c.576C>G (p.Phe192Leu) c.436C>G c.439C>G c.453C>G (p.Phe151Leu) c.*415C>G (n.*415C>G) c.663C>G (p.Phe221Leu) c.666C>G (p.Phe222Leu) | ClinVar |
| X | g.154534409G= | CA2466724165 | G6PD | c.573C= (p.Phe191=) c.576C= (p.Phe192=) c.436C= c.439C= c.453C= (p.Phe151=) c.*415C= (n.*415C=) c.663C= (p.Phe221=) c.666C= (p.Phe222=) | |
| X | g.154534409G>T | CA415237925 | G6PD | c.573C>A (p.Phe191Leu) c.576C>A (p.Phe192Leu) c.436C>A c.439C>A c.453C>A (p.Phe151Leu) c.*415C>A (n.*415C>A) c.663C>A (p.Phe221Leu) c.666C>A (p.Phe222Leu) | gnomAD v4 |
| X | g.154534409_154534410del | CA2538538099 | G6PD | c.572_573del (p.Phe191SerfsTer2) c.575_576del (p.Phe192SerfsTer2) c.435_436del c.438_439del c.452_453del (p.Phe151SerfsTer2) c.*414_*415del (n.*414_*415del) c.662_663del (p.Phe221SerfsTer2) c.665_666del (p.Phe222SerfsTer2) | |
| X | g.154534409_154534411delinsGAA | CA2466724166 | G6PD | c.571_573delinsTTC (p.Phe191=) c.574_576delinsTTC (p.Phe192=) c.434_436delinsTTC c.437_439delinsTTC c.451_453delinsTTC (p.Phe151=) c.*413_*415delinsTTC (n.*413_*415delinsTTC) c.661_663delinsTTC (p.Phe221=) c.664_666delinsTTC (p.Phe222=) | |
| X | g.154534409_154534412del | CA2528873722 | G6PD | c.570_573del (p.Phe191ValfsTer23) c.573_576del (p.Phe192ValfsTer23) c.433_436del c.436_439del c.450_453del (p.Phe151ValfsTer23) c.*412_*415del (n.*412_*415del) c.660_663del (p.Phe221ValfsTer23) c.663_666del (p.Phe222ValfsTer23) | |
| X | g.154534410_154534414del | CA2558914346 | G6PD | c.569_573del (p.Leu190ProfsTer2) c.572_576del (p.Leu191ProfsTer2) c.432_436del c.435_439del c.449_453del (p.Leu150ProfsTer2) c.*411_*415del (n.*411_*415del) c.659_663del (p.Leu220ProfsTer2) c.662_666del (p.Leu221ProfsTer2) | |
| X | g.154534409_154534410insCCCC | CA2552051542 | G6PD | c.572_573insGGGG (p.Phe191LeufsTer4) c.575_576insGGGG (p.Phe192LeufsTer4) c.435_436insGGGG c.438_439insGGGG c.452_453insGGGG (p.Phe151LeufsTer4) c.*414_*415insGGGG (n.*414_*415insGGGG) c.662_663insGGGG (p.Phe221LeufsTer4) c.665_666insGGGG (p.Phe222LeufsTer4) | |
| X | g.154534409_154534410insCGTC | CA2824282564 | G6PD | c.572_573insGACG (p.Phe191LeufsTer4) c.575_576insGACG (p.Phe192LeufsTer4) c.435_436insGACG c.438_439insGACG c.452_453insGACG (p.Phe151LeufsTer4) c.*414_*415insGACG (n.*414_*415insGACG) c.662_663insGACG (p.Phe221LeufsTer4) c.665_666insGACG (p.Phe222LeufsTer4) | |
| X | g.154534409_154534410insGCCC | CA2565504476 | G6PD | c.572_573insGGGC (p.Phe191LeufsTer4) c.575_576insGGGC (p.Phe192LeufsTer4) c.435_436insGGGC c.438_439insGGGC c.452_453insGGGC (p.Phe151LeufsTer4) c.*414_*415insGGGC (n.*414_*415insGGGC) c.662_663insGGGC (p.Phe221LeufsTer4) c.665_666insGGGC (p.Phe222LeufsTer4) | |
| X | g.154534410A>C | CA415237927 | G6PD | c.572T>G (p.Phe191Cys) c.575T>G (p.Phe192Cys) c.435T>G c.438T>G c.452T>G (p.Phe151Cys) c.*414T>G (n.*414T>G) c.662T>G (p.Phe221Cys) c.665T>G (p.Phe222Cys) | |
| X | g.154534410A>G | CA415237928 | G6PD | c.572T>C (p.Phe191Ser) c.575T>C (p.Phe192Ser) c.435T>C c.438T>C c.452T>C (p.Phe151Ser) c.*414T>C (n.*414T>C) c.662T>C (p.Phe221Ser) c.665T>C (p.Phe222Ser) | |
| X | g.154534410A>T | CA415237929 | G6PD | c.572T>A (p.Phe191Tyr) c.575T>A (p.Phe192Tyr) c.435T>A c.438T>A c.452T>A (p.Phe151Tyr) c.*414T>A (n.*414T>A) c.662T>A (p.Phe221Tyr) c.665T>A (p.Phe222Tyr) | |
| X | g.154534410_154534411del | CA2466724167 | G6PD | c.571_572del (p.Phe191ProfsTer2) c.574_575del (p.Phe192ProfsTer2) c.434_435del c.437_438del c.451_452del (p.Phe151ProfsTer2) c.*413_*414del (n.*413_*414del) c.661_662del (p.Phe221ProfsTer2) c.664_665del (p.Phe222ProfsTer2) | dbSNP |
| X | g.154534410_154534411insT | CA2569264192 | G6PD | c.571_572insA (p.Phe191TyrfsTer3) c.574_575insA (p.Phe192TyrfsTer3) c.434_435insA c.437_438insA c.451_452insA (p.Phe151TyrfsTer3) c.*413_*414insA (n.*413_*414insA) c.661_662insA (p.Phe221TyrfsTer3) c.664_665insA (p.Phe222TyrfsTer3) | |
| X | g.154534410_154534411insCCC | CA2536209398 | G6PD | c.571_572insGGG (p.Phe191delinsTrpVal) c.574_575insGGG (p.Phe192delinsTrpVal) c.434_435insGGG c.437_438insGGG c.451_452insGGG (p.Phe151delinsTrpVal) c.*413_*414insGGG (n.*413_*414insGGG) c.661_662insGGG (p.Phe221delinsTrpVal) c.664_665insGGG (p.Phe222delinsTrpVal) | |
| X | g.154534410_154534411insTCCGCCCC | CA2536207560 | G6PD | c.571_572insGGGGCGGA (p.Phe191TrpfsTer27) c.574_575insGGGGCGGA (p.Phe192TrpfsTer27) c.434_435insGGGGCGGA c.437_438insGGGGCGGA c.451_452insGGGGCGGA (p.Phe151TrpfsTer27) c.*413_*414insGGGGCGGA (n.*413_*414insGGGGCGGA) c.661_662insGGGGCGGA (p.Phe221TrpfsTer27) c.664_665insGGGGCGGA (p.Phe222TrpfsTer27) | |
| X | g.154534410_154534411insTTGACCTTGCGCG | CA2824282566 | G6PD | c.571_572insCGCGCAAGGTCAA (p.Phe191SerfsTer7) c.574_575insCGCGCAAGGTCAA (p.Phe192SerfsTer7) c.434_435insCGCGCAAGGTCAA c.437_438insCGCGCAAGGTCAA c.451_452insCGCGCAAGGTCAA (p.Phe151SerfsTer7) c.*413_*414insCGCGCAAGGTCAA (n.*413_*414insCGCGCAAGGTCAA) c.661_662insCGCGCAAGGTCAA (p.Phe221SerfsTer7) c.664_665insCGCGCAAGGTCAA (p.Phe222SerfsTer7) | |
| X | g.154534411A>C | CA415237934 | G6PD | c.571T>G (p.Phe191Val) c.574T>G (p.Phe192Val) c.434T>G c.437T>G c.451T>G (p.Phe151Val) c.*413T>G (n.*413T>G) c.661T>G (p.Phe221Val) c.664T>G (p.Phe222Val) | |
| X | g.154534411A>G | CA415237931 | G6PD | c.571T>C (p.Phe191Leu) c.574T>C (p.Phe192Leu) c.434T>C c.437T>C c.451T>C (p.Phe151Leu) c.*413T>C (n.*413T>C) c.661T>C (p.Phe221Leu) c.664T>C (p.Phe222Leu) | |
| X | g.154534411A>T | CA415237932 | G6PD | c.571T>A (p.Phe191Ile) c.574T>A (p.Phe192Ile) c.434T>A c.437T>A c.451T>A (p.Phe151Ile) c.*413T>A (n.*413T>A) c.661T>A (p.Phe221Ile) c.664T>A (p.Phe222Ile) | |
| X | g.154534411_154534412insG | CA2560676825 | G6PD | c.570_571insC (p.Phe191LeufsTer3) c.573_574insC (p.Phe192LeufsTer3) c.433_434insC c.436_437insC c.450_451insC (p.Phe151LeufsTer3) c.*412_*413insC (n.*412_*413insC) c.660_661insC (p.Phe221LeufsTer3) c.663_664insC (p.Phe222LeufsTer3) | |
| X | g.154534411_154534412insATAGGCCGC | CA2560976486 | G6PD | c.570_571insGCGGCCTAT (p.Leu190_Phe191insAlaAlaTyr) c.573_574insGCGGCCTAT (p.Leu191_Phe192insAlaAlaTyr) c.433_434insGCGGCCTAT c.436_437insGCGGCCTAT c.450_451insGCGGCCTAT (p.Leu150_Phe151insAlaAlaTyr) c.*412_*413insGCGGCCTAT (n.*412_*413insGCGGCCTAT) c.660_661insGCGGCCTAT (p.Leu220_Phe221insAlaAlaTyr) c.663_664insGCGGCCTAT (p.Leu221_Phe222insAlaAlaTyr) | |
| X | g.154534412del | CA2542507877 | G6PD | c.570del (p.Phe191SerfsTer24) c.573del (p.Phe192SerfsTer24) c.433del c.436del c.450del (p.Phe151SerfsTer24) c.*412del (n.*412del) c.660del (p.Phe221SerfsTer24) c.663del (p.Phe222SerfsTer24) | |
| X | g.154534412C>A | CA519305761 | G6PD | c.570G>T (p.Leu190=) c.573G>T (p.Leu191=) c.433G>T c.436G>T c.450G>T (p.Leu150=) c.*412G>T (n.*412G>T) c.660G>T (p.Leu220=) c.663G>T (p.Leu221=) | |
| X | g.154534412C= | CA2466724168 | G6PD | c.570G= (p.Leu190=) c.573G= (p.Leu191=) c.433G= c.436G= c.450G= (p.Leu150=) c.*412G= (n.*412G=) c.660G= (p.Leu220=) c.663G= (p.Leu221=) | |
| X | g.154534412C>G | CA519305762 | G6PD | c.570G>C (p.Leu190=) c.573G>C (p.Leu191=) c.433G>C c.436G>C c.450G>C (p.Leu150=) c.*412G>C (n.*412G>C) c.660G>C (p.Leu220=) c.663G>C (p.Leu221=) | gnomAD v4 |
| X | g.154534412C>T | CA519305764 | G6PD | c.570G>A (p.Leu190=) c.573G>A (p.Leu191=) c.433G>A c.436G>A c.450G>A (p.Leu150=) c.*412G>A (n.*412G>A) c.660G>A (p.Leu220=) c.663G>A (p.Leu221=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154534412dup | CA2525421233 | G6PD | c.570dup (p.Phe191ValfsTer3) c.573dup (p.Phe192ValfsTer3) c.433dup c.436dup c.450dup (p.Phe151ValfsTer3) c.*412dup (n.*412dup) c.660dup (p.Phe221ValfsTer3) c.663dup (p.Phe222ValfsTer3) | |
| X | g.154534412_154534415del | CA2502889400 | G6PD | c.567_570del (p.Leu190SerfsTer24) c.570_573del (p.Leu191SerfsTer24) c.430_433del c.433_436del c.447_450del (p.Leu150SerfsTer24) c.*409_*412del (n.*409_*412del) c.657_660del (p.Leu220SerfsTer24) c.660_663del (p.Leu221SerfsTer24) | gnomAD v4 |
| X | g.154534412_154534423delinsCAGGGAGGAGAT | CA2466724169 | G6PD | c.559_570delinsATCTCCTCCCTG (p.Ile187=) c.562_573delinsATCTCCTCCCTG (p.Ile188=) c.422_433delinsATCTCCTCCCTG c.425_436delinsATCTCCTCCCTG c.439_450delinsATCTCCTCCCTG (p.Ile147=) c.*401_*412delinsATCTCCTCCCTG (n.*401_*412delinsATCTCCTCCCTG) c.649_660delinsATCTCCTCCCTG (p.Ile217=) c.652_663delinsATCTCCTCCCTG (p.Ile218=) | |
| X | g.154534412_154534413insGT | CA2557280171 | G6PD | c.569_570insAC (p.Phe191ArgfsTer25) c.572_573insAC (p.Phe192ArgfsTer25) c.432_433insAC c.435_436insAC c.449_450insAC (p.Phe151ArgfsTer25) c.*411_*412insAC (n.*411_*412insAC) c.659_660insAC (p.Phe221ArgfsTer25) c.662_663insAC (p.Phe222ArgfsTer25) | |
| X | g.154534412_154534413insGTCGGG | CA2512601552 | G6PD | c.569_570insCCCGAC (p.Leu190_Phe191insProThr) c.572_573insCCCGAC (p.Leu191_Phe192insProThr) c.432_433insCCCGAC c.435_436insCCCGAC c.449_450insCCCGAC (p.Leu150_Phe151insProThr) c.*411_*412insCCCGAC (n.*411_*412insCCCGAC) c.659_660insCCCGAC (p.Leu220_Phe221insProThr) c.662_663insCCCGAC (p.Leu221_Phe222insProThr) | |
| X | g.154534413A>C | CA415237936 | G6PD | c.569T>G (p.Leu190Arg) c.572T>G (p.Leu191Arg) c.432T>G c.435T>G c.449T>G (p.Leu150Arg) c.*411T>G (n.*411T>G) c.659T>G (p.Leu220Arg) c.662T>G (p.Leu221Arg) | |
| X | g.154534413A>G | CA415237937 | G6PD | c.569T>C (p.Leu190Pro) c.572T>C (p.Leu191Pro) c.432T>C c.435T>C c.449T>C (p.Leu150Pro) c.*411T>C (n.*411T>C) c.659T>C (p.Leu220Pro) c.662T>C (p.Leu221Pro) | |
| X | g.154534413A>T | CA415237939 | G6PD | c.569T>A (p.Leu190Gln) c.572T>A (p.Leu191Gln) c.432T>A c.435T>A c.449T>A (p.Leu150Gln) c.*411T>A (n.*411T>A) c.659T>A (p.Leu220Gln) c.662T>A (p.Leu221Gln) | |
| X | g.154534413_154534415del | CA2569465176 | G6PD | c.567_569del (p.Leu190del) c.570_572del (p.Leu191del) c.430_432del c.433_435del c.447_449del (p.Leu150del) c.*409_*411del (n.*409_*411del) c.657_659del (p.Leu220del) c.660_662del (p.Leu221del) | |
| X | g.154534413_154534423del | CA2466724170 | G6PD | c.559_569del (p.Ile187ValfsTer3) c.562_572del (p.Ile188ValfsTer3) c.422_432del c.425_435del c.439_449del (p.Ile147ValfsTer3) c.*401_*411del (n.*401_*411del) c.649_659del (p.Ile217ValfsTer3) c.652_662del (p.Ile218ValfsTer3) | dbSNP |
| X | g.154534413_154534414insCGTCTTCGTTGATTTTGC | CA2553766061 | G6PD | c.568_569insGCAAAATCAACGAAGACG (p.Leu190delinsArgLysIleAsnGluAspVal) c.571_572insGCAAAATCAACGAAGACG (p.Leu191delinsArgLysIleAsnGluAspVal) c.431_432insGCAAAATCAACGAAGACG c.434_435insGCAAAATCAACGAAGACG c.448_449insGCAAAATCAACGAAGACG (p.Leu150delinsArgLysIleAsnGluAspVal) c.*410_*411insGCAAAATCAACGAAGACG (n.*410_*411insGCAAAATCAACGAAGACG) c.658_659insGCAAAATCAACGAAGACG (p.Leu220delinsArgLysIleAsnGluAspVal) c.661_662insGCAAAATCAACGAAGACG (p.Leu221delinsArgLysIleAsnGluAspVal) | |
| X | g.154534413_154534414insTGGCGGCCGACGGCTTCGCTGATGGCGC | CA2499738493 | G6PD | c.568_569insGCGCCATCAGCGAAGCCGTCGGCCGCCA (p.Leu190ArgfsTer13) c.571_572insGCGCCATCAGCGAAGCCGTCGGCCGCCA (p.Leu191ArgfsTer13) c.431_432insGCGCCATCAGCGAAGCCGTCGGCCGCCA c.434_435insGCGCCATCAGCGAAGCCGTCGGCCGCCA c.448_449insGCGCCATCAGCGAAGCCGTCGGCCGCCA (p.Leu150ArgfsTer13) c.*410_*411insGCGCCATCAGCGAAGCCGTCGGCCGCCA (n.*410_*411insGCGCCATCAGCGAAGCCGTCGGCCGCCA) c.658_659insGCGCCATCAGCGAAGCCGTCGGCCGCCA (p.Leu220ArgfsTer13) c.661_662insGCGCCATCAGCGAAGCCGTCGGCCGCCA (p.Leu221ArgfsTer13) | |
| X | g.154534414G>A | CA10566214 | G6PD | c.568C>T (p.Leu190=) c.571C>T (p.Leu191=) c.431C>T c.434C>T c.448C>T (p.Leu150=) c.*410C>T (n.*410C>T) c.658C>T (p.Leu220=) c.661C>T (p.Leu221=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154534414G>C | CA415237941 | G6PD | c.568C>G (p.Leu190Val) c.571C>G (p.Leu191Val) c.431C>G c.434C>G c.448C>G (p.Leu150Val) c.*410C>G (n.*410C>G) c.658C>G (p.Leu220Val) c.661C>G (p.Leu221Val) | |
| X | g.154534414G= | CA2466724171 | G6PD | c.568C= (p.Leu190=) c.571C= (p.Leu191=) c.431C= c.434C= c.448C= (p.Leu150=) c.*410C= (n.*410C=) c.658C= (p.Leu220=) c.661C= (p.Leu221=) | |
| X | g.154534414G>T | CA415237943 | G6PD | c.568C>A (p.Leu190Met) c.571C>A (p.Leu191Met) c.431C>A c.434C>A c.448C>A (p.Leu150Met) c.*410C>A (n.*410C>A) c.658C>A (p.Leu220Met) c.661C>A (p.Leu221Met) | |
| X | g.154534414_154534421del | CA2547721387 | G6PD | c.561_568del (p.Ser188ValfsTer3) c.564_571del (p.Ser189ValfsTer3) c.424_431del c.427_434del c.441_448del (p.Ser148ValfsTer3) c.*403_*410del (n.*403_*410del) c.651_658del (p.Ser218ValfsTer3) c.654_661del (p.Ser219ValfsTer3) | |
| X | g.154534414_154534415insT | CA2557062631 | G6PD | c.567_568insA (p.Leu190ThrfsTer4) c.570_571insA (p.Leu191ThrfsTer4) c.430_431insA c.433_434insA c.447_448insA (p.Leu150ThrfsTer4) c.*409_*410insA (n.*409_*410insA) c.657_658insA (p.Leu220ThrfsTer4) c.660_661insA (p.Leu221ThrfsTer4) | |
| X | g.154534415G>A | CA519305770 | G6PD | c.567C>T (p.Ser189=) c.570C>T (p.Ser190=) c.430C>T c.433C>T c.447C>T (p.Ser149=) c.*409C>T (n.*409C>T) c.657C>T (p.Ser219=) c.660C>T (p.Ser220=) | |
| X | g.154534415G>C | CA519305771 | G6PD | c.567C>G (p.Ser189=) c.570C>G (p.Ser190=) c.430C>G c.433C>G c.447C>G (p.Ser149=) c.*409C>G (n.*409C>G) c.657C>G (p.Ser219=) c.660C>G (p.Ser220=) | |
| X | g.154534415G>T | CA519305773 | G6PD | c.567C>A (p.Ser189=) c.570C>A (p.Ser190=) c.430C>A c.433C>A c.447C>A (p.Ser149=) c.*409C>A (n.*409C>A) c.657C>A (p.Ser219=) c.660C>A (p.Ser220=) | |
| X | g.154534419_154534421del | CA2580612322 | G6PD | c.565_567del (p.Ser189del) c.568_570del (p.Ser190del) c.428_430del c.431_433del c.445_447del (p.Ser149del) c.*407_*409del (n.*407_*409del) c.655_657del (p.Ser219del) c.658_660del (p.Ser220del) | ClinVar |
| X | g.154534416G>A | CA415237946 | G6PD | c.566C>T (p.Ser189Phe) c.569C>T (p.Ser190Phe) c.429C>T c.432C>T c.446C>T (p.Ser149Phe) c.*408C>T (n.*408C>T) c.656C>T (p.Ser219Phe) c.659C>T (p.Ser220Phe) | |
| X | g.154534416G>C | CA415237948 | G6PD | c.566C>G (p.Ser189Cys) c.569C>G (p.Ser190Cys) c.429C>G c.432C>G c.446C>G (p.Ser149Cys) c.*408C>G (n.*408C>G) c.656C>G (p.Ser219Cys) c.659C>G (p.Ser220Cys) | |
| X | g.154534416G>T | CA415237949 | G6PD | c.566C>A (p.Ser189Tyr) c.569C>A (p.Ser190Tyr) c.429C>A c.432C>A c.446C>A (p.Ser149Tyr) c.*408C>A (n.*408C>A) c.656C>A (p.Ser219Tyr) c.659C>A (p.Ser220Tyr) | |
| X | g.154534416_154534417insTCCC | CA2506063578 | G6PD | c.565_566insGGGA (p.Ser189TrpfsTer6) c.568_569insGGGA (p.Ser190TrpfsTer6) c.428_429insGGGA c.431_432insGGGA c.445_446insGGGA (p.Ser149TrpfsTer6) c.*407_*408insGGGA (n.*407_*408insGGGA) c.655_656insGGGA (p.Ser219TrpfsTer6) c.658_659insGGGA (p.Ser220TrpfsTer6) | |
| X | g.154534417A>C | CA415237952 | G6PD | c.565T>G (p.Ser189Ala) c.568T>G (p.Ser190Ala) c.428T>G c.431T>G c.445T>G (p.Ser149Ala) c.*407T>G (n.*407T>G) c.655T>G (p.Ser219Ala) c.658T>G (p.Ser220Ala) | gnomAD v4 |
| X | g.154534417A>G | CA415237954 | G6PD | c.565T>C (p.Ser189Pro) c.568T>C (p.Ser190Pro) c.428T>C c.431T>C c.445T>C (p.Ser149Pro) c.*407T>C (n.*407T>C) c.655T>C (p.Ser219Pro) c.658T>C (p.Ser220Pro) | |
| X | g.154534417A>T | CA415237955 | G6PD | c.565T>A (p.Ser189Thr) c.568T>A (p.Ser190Thr) c.428T>A c.431T>A c.445T>A (p.Ser149Thr) c.*407T>A (n.*407T>A) c.655T>A (p.Ser219Thr) c.658T>A (p.Ser220Thr) | |
| X | g.154534417_154534422del | CA2824282575 | G6PD | c.560_565del (p.Ile187_Ser189delinsThr) c.563_568del (p.Ile188_Ser190delinsThr) c.423_428del c.426_431del c.440_445del (p.Ile147_Ser149delinsThr) c.*402_*407del (n.*402_*407del) c.650_655del (p.Ile217_Ser219delinsThr) c.653_658del (p.Ile218_Ser220delinsThr) | |
| X | g.154534417_154534432del | CA2535592901 | G6PD | c.550_565del (p.Ser184ProfsTer26) c.553_568del (p.Ser185ProfsTer26) c.413_428del c.416_431del c.430_445del (p.Ser144ProfsTer26) c.*392_*407del (n.*392_*407del) c.640_655del (p.Ser214ProfsTer26) c.643_658del (p.Ser215ProfsTer26) | |
| X | g.154534417_154534418insC | CA1138582999 | G6PD | c.564_565insG (p.Ser189ValfsTer5) c.567_568insG (p.Ser190ValfsTer5) c.427_428insG c.430_431insG c.444_445insG (p.Ser149ValfsTer5) c.*406_*407insG (n.*406_*407insG) c.654_655insG (p.Ser219ValfsTer5) c.657_658insG (p.Ser220ValfsTer5) | gnomAD v3 gnomAD v4 |
| X | g.154534417_154534418insTCT | CA2522129255 | G6PD | c.564_565insAGA (p.Ser188_Ser189insArg) c.567_568insAGA (p.Ser189_Ser190insArg) c.427_428insAGA c.430_431insAGA c.444_445insAGA (p.Ser148_Ser149insArg) c.*406_*407insAGA (n.*406_*407insAGA) c.654_655insAGA (p.Ser218_Ser219insArg) c.657_658insAGA (p.Ser219_Ser220insArg) | gnomAD v4 |
| X | g.154534417_154534418insTCTG | CA2824282586 | G6PD | c.564_565insCAGA (p.Ser189GlnfsTer6) c.567_568insCAGA (p.Ser190GlnfsTer6) c.427_428insCAGA c.430_431insCAGA c.444_445insCAGA (p.Ser149GlnfsTer6) c.*406_*407insCAGA (n.*406_*407insCAGA) c.654_655insCAGA (p.Ser219GlnfsTer6) c.657_658insCAGA (p.Ser220GlnfsTer6) | |
| X | g.154534418G>A | CA10566215 | G6PD | c.564C>T (p.Ser188=) c.567C>T (p.Ser189=) c.427C>T c.430C>T c.444C>T (p.Ser148=) c.*406C>T (n.*406C>T) c.654C>T (p.Ser218=) c.657C>T (p.Ser219=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154534418G>C | CA519305780 | G6PD | c.564C>G (p.Ser188=) c.567C>G (p.Ser189=) c.427C>G c.430C>G c.444C>G (p.Ser148=) c.*406C>G (n.*406C>G) c.654C>G (p.Ser218=) c.657C>G (p.Ser219=) | |
| X | g.154534418G= | CA2466724172 | G6PD | c.564C= (p.Ser188=) c.567C= (p.Ser189=) c.427C= c.430C= c.444C= (p.Ser148=) c.*406C= (n.*406C=) c.654C= (p.Ser218=) c.657C= (p.Ser219=) | |
| X | g.154534418G>T | CA519305781 | G6PD | c.564C>A (p.Ser188=) c.567C>A (p.Ser189=) c.427C>A c.430C>A c.444C>A (p.Ser148=) c.*406C>A (n.*406C>A) c.654C>A (p.Ser218=) c.657C>A (p.Ser219=) | |
| X | g.154534418_154534419insC | CA2569781155 | G6PD | c.563_564insG (p.Ser189LeufsTer5) c.566_567insG (p.Ser190LeufsTer5) c.426_427insG c.429_430insG c.443_444insG (p.Ser149LeufsTer5) c.*405_*406insG (n.*405_*406insG) c.653_654insG (p.Ser219LeufsTer5) c.656_657insG (p.Ser220LeufsTer5) | gnomAD v4 |
| X | g.154534418_154534419insT | CA2557896241 | G6PD | c.563_564insA (p.Ser189LeufsTer5) c.566_567insA (p.Ser190LeufsTer5) c.426_427insA c.429_430insA c.443_444insA (p.Ser149LeufsTer5) c.*405_*406insA (n.*405_*406insA) c.653_654insA (p.Ser219LeufsTer5) c.656_657insA (p.Ser220LeufsTer5) | |
| X | g.154534418_154534419insAA | CA2565885759 | G6PD | c.563_564insTT (p.Leu190ProfsTer26) c.566_567insTT (p.Leu191ProfsTer26) c.426_427insTT c.429_430insTT c.443_444insTT (p.Leu150ProfsTer26) c.*405_*406insTT (n.*405_*406insTT) c.653_654insTT (p.Leu220ProfsTer26) c.656_657insTT (p.Leu221ProfsTer26) | |
| X | g.154534418_154534419insTC | CA2569465471 | G6PD | c.563_564insGA (p.Ser189ThrfsTer27) c.566_567insGA (p.Ser190ThrfsTer27) c.426_427insGA c.429_430insGA c.443_444insGA (p.Ser149ThrfsTer27) c.*405_*406insGA (n.*405_*406insGA) c.653_654insGA (p.Ser219ThrfsTer27) c.656_657insGA (p.Ser220ThrfsTer27) | |
| X | g.154534419G>A | CA120955 | G6PD | c.563C>T (p.Ser188Phe) c.566C>T (p.Ser189Phe) c.426C>T c.429C>T c.443C>T (p.Ser148Phe) c.*405C>T (n.*405C>T) c.653C>T (p.Ser218Phe) c.656C>T (p.Ser219Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| X | g.[154534419G>A;154535277T>C] | CA2580573399 | G6PD | c.[376A>G;563C>T] (p.[Asn126Asp;Ser188Phe]) c.[376A>G;566C>T] (p.[Asn126Asp;Ser189Phe]) c.[239A>G;426C>T] c.[239A>G;429C>T] c.[256A>G;443C>T] (p.[Asn86Asp;Ser148Phe]) c.[*218A>G;*405C>T] (n.[*218A>G;*405C>T]) c.[466A>G;653C>T] (p.[Asn156Asp;Ser218Phe]) c.[466A>G;656C>T] (p.[Asn156Asp;Ser219Phe]) | |
| X | g.[154534419G>A;154535277T>C;154536002C>T] | CA2580573398 | G6PD | c.[202G>A;376A>G;563C>T] (p.[Val68Met;Asn126Asp;Ser188Phe]) c.[202G>A;376A>G;566C>T] (p.[Val68Met;Asn126Asp;Ser189Phe]) c.[82G>A;239A>G;426C>T] c.[82G>A;239A>G;429C>T] c.[82G>A;256A>G;443C>T] (p.[Val28Met;Asn86Asp;Ser148Phe]) c.[*44G>A;*218A>G;*405C>T] (n.[*44G>A;*218A>G;*405C>T]) c.[292G>A;466A>G;653C>T] (p.[Val98Met;Asn156Asp;Ser218Phe]) c.[292G>A;466A>G;656C>T] (p.[Val98Met;Asn156Asp;Ser219Phe]) | |
| X | g.[154534419G>A;154536002C>T] | CA2580573400 | G6PD | c.[202G>A;563C>T] (p.[Val68Met;Ser188Phe]) c.[202G>A;566C>T] (p.[Val68Met;Ser189Phe]) c.[82G>A;426C>T] c.[82G>A;429C>T] c.[82G>A;443C>T] (p.[Val28Met;Ser148Phe]) c.[*44G>A;*405C>T] (n.[*44G>A;*405C>T]) c.[292G>A;653C>T] (p.[Val98Met;Ser218Phe]) c.[292G>A;656C>T] (p.[Val98Met;Ser219Phe]) | |
| X | g.[154534419G>A;154536156A>G] | CA2580573401 | G6PD | c.[143T>C;563C>T] (p.[Ile48Thr;Ser188Phe]) c.[143T>C;566C>T] (p.[Ile48Thr;Ser189Phe]) c.[23T>C;426C>T] c.[23T>C;429C>T] c.[23T>C;443C>T] (p.[Ile8Thr;Ser148Phe]) c.[143T>C;*405C>T] ([p.Ile48Thr;n.*405C>T]) c.[233T>C;653C>T] (p.[Ile78Thr;Ser218Phe]) c.[233T>C;656C>T] (p.[Ile78Thr;Ser219Phe]) | |
| X | g.154534419G>C | CA415237958 | G6PD | c.563C>G (p.Ser188Cys) c.566C>G (p.Ser189Cys) c.426C>G c.429C>G c.443C>G (p.Ser148Cys) c.*405C>G (n.*405C>G) c.653C>G (p.Ser218Cys) c.656C>G (p.Ser219Cys) | gnomAD v3 gnomAD v4 |
| X | g.154534419G= | CA2466724173 | G6PD | c.563C= (p.Ser188=) c.566C= (p.Ser189=) c.426C= c.429C= c.443C= (p.Ser148=) c.*405C= (n.*405C=) c.653C= (p.Ser218=) c.656C= (p.Ser219=) | |
| X | g.154534419G>T | CA415237959 | G6PD | c.563C>A (p.Ser188Tyr) c.566C>A (p.Ser189Tyr) c.426C>A c.429C>A c.443C>A (p.Ser148Tyr) c.*405C>A (n.*405C>A) c.653C>A (p.Ser218Tyr) c.656C>A (p.Ser219Tyr) |