| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) |