| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154534489T>A | CA415238198 | G6PD | c.493A>T (p.Asn165Tyr) c.496A>T (p.Asn166Tyr) c.356A>T c.359A>T c.373A>T (p.Asn125Tyr) c.*335A>T (n.*335A>T) c.583A>T (p.Asn195Tyr) c.586A>T (p.Asn196Tyr) | |
| X | g.154534489T>C | CA121000 | G6PD | c.493A>G (p.Asn165Asp) c.496A>G (p.Asn166Asp) c.356A>G c.359A>G c.373A>G (p.Asn125Asp) c.*335A>G (n.*335A>G) c.583A>G (p.Asn195Asp) c.586A>G (p.Asn196Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154534489T>G | CA415238200 | G6PD | c.493A>C (p.Asn165His) c.496A>C (p.Asn166His) c.356A>C c.359A>C c.373A>C (p.Asn125His) c.*335A>C (n.*335A>C) c.583A>C (p.Asn195His) c.586A>C (p.Asn196His) | |
| X | g.154534489T= | CA2466724201 | G6PD | c.493A= (p.Asn165=) c.496A= (p.Asn166=) c.356A= c.359A= c.373A= (p.Asn125=) c.*335A= (n.*335A=) c.583A= (p.Asn195=) c.586A= (p.Asn196=) | |
| X | g.154534490C>A | CA415238202 | G6PD | c.492G>T (p.Trp164Cys) c.495G>T (p.Trp165Cys) c.355G>T c.358G>T c.372G>T (p.Trp124Cys) c.*334G>T (n.*334G>T) c.582G>T (p.Trp194Cys) c.585G>T (p.Trp195Cys) | |
| X | g.154534490C>G | CA415238203 | G6PD | c.492G>C (p.Trp164Cys) c.495G>C (p.Trp165Cys) c.355G>C c.358G>C c.372G>C (p.Trp124Cys) c.*334G>C (n.*334G>C) c.582G>C (p.Trp194Cys) c.585G>C (p.Trp195Cys) | |
| X | g.154534490C>T | CA415238204 | G6PD | c.492G>A (p.Trp164Ter) c.495G>A (p.Trp165Ter) c.355G>A c.358G>A c.372G>A (p.Trp124Ter) c.*334G>A (n.*334G>A) c.582G>A (p.Trp194Ter) c.585G>A (p.Trp195Ter) | |
| X | g.154534491C>A | CA415238206 | G6PD | c.491G>T (p.Trp164Leu) c.494G>T (p.Trp165Leu) c.354G>T c.357G>T c.371G>T (p.Trp124Leu) c.*333G>T (n.*333G>T) c.581G>T (p.Trp194Leu) c.584G>T (p.Trp195Leu) | |
| X | g.154534491C= | CA2466724202 | G6PD | c.491G= (p.Trp164=) c.494G= (p.Trp165=) c.354G= c.357G= c.371G= (p.Trp124=) c.*333G= (n.*333G=) c.581G= (p.Trp194=) c.584G= (p.Trp195=) | |
| X | g.154534491C>G | CA415238208 | G6PD | c.491G>C (p.Trp164Ser) c.494G>C (p.Trp165Ser) c.354G>C c.357G>C c.371G>C (p.Trp124Ser) c.*333G>C (n.*333G>C) c.581G>C (p.Trp194Ser) c.584G>C (p.Trp195Ser) | |
| X | g.154534491C>T | CA415238210 | G6PD | c.491G>A (p.Trp164Ter) c.494G>A (p.Trp165Ter) c.354G>A c.357G>A c.371G>A (p.Trp124Ter) c.*333G>A (n.*333G>A) c.581G>A (p.Trp194Ter) c.584G>A (p.Trp195Ter) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154534492A= | CA2466724203 | G6PD | c.490T= (p.Trp164=) c.493T= (p.Trp165=) c.353T= c.356T= c.370T= (p.Trp124=) c.*332T= (n.*332T=) c.580T= (p.Trp194=) c.583T= (p.Trp195=) | |
| X | g.154534492A>C | CA415238212 | G6PD | c.490T>G (p.Trp164Gly) c.493T>G (p.Trp165Gly) c.353T>G c.356T>G c.370T>G (p.Trp124Gly) c.*332T>G (n.*332T>G) c.580T>G (p.Trp194Gly) c.583T>G (p.Trp195Gly) | |
| X | g.154534492A>G | CA415238214 | G6PD | c.490T>C (p.Trp164Arg) c.493T>C (p.Trp165Arg) c.353T>C c.356T>C c.370T>C (p.Trp124Arg) c.*332T>C (n.*332T>C) c.580T>C (p.Trp194Arg) c.583T>C (p.Trp195Arg) | ClinVar dbSNP gnomAD v4 |
| X | g.154534492A>T | CA415238211 | G6PD | c.490T>A (p.Trp164Arg) c.493T>A (p.Trp165Arg) c.353T>A c.356T>A c.370T>A (p.Trp124Arg) c.*332T>A (n.*332T>A) c.580T>A (p.Trp194Arg) c.583T>A (p.Trp195Arg) | |
| X | g.154534493G>A | CA337317718 | G6PD | c.489C>T (p.Gly163=) c.492C>T (p.Gly164=) c.352C>T c.355C>T c.369C>T (p.Gly123=) c.*331C>T (n.*331C>T) c.579C>T (p.Gly193=) c.582C>T (p.Gly194=) | dbSNP gnomAD v4 |
| X | g.154534493G>C | CA337317717 | G6PD | c.489C>G (p.Gly163=) c.492C>G (p.Gly164=) c.352C>G c.355C>G c.369C>G (p.Gly123=) c.*331C>G (n.*331C>G) c.579C>G (p.Gly193=) c.582C>G (p.Gly194=) | dbSNP |
| X | g.154534493G= | CA2466724204 | G6PD | c.489C= (p.Gly163=) c.492C= (p.Gly164=) c.352C= c.355C= c.369C= (p.Gly123=) c.*331C= (n.*331C=) c.579C= (p.Gly193=) c.582C= (p.Gly194=) | |
| X | g.154534493G>T | CA337317720 | G6PD | c.489C>A (p.Gly163=) c.492C>A (p.Gly164=) c.352C>A c.355C>A c.369C>A (p.Gly123=) c.*331C>A (n.*331C>A) c.579C>A (p.Gly193=) c.582C>A (p.Gly194=) | dbSNP |
| X | g.154534493dup | CA2559804677 | G6PD | c.489dup (p.Trp164LeufsTer18) c.492dup (p.Trp165LeufsTer18) c.352dup c.355dup c.369dup (p.Trp124LeufsTer18) c.*331dup (n.*331dup) c.579dup (p.Trp194LeufsTer18) c.582dup (p.Trp195LeufsTer18) | |
| X | g.154534494C>A | CA415238219 | G6PD | c.488G>T (p.Gly163Val) c.491G>T (p.Gly164Val) c.351G>T c.354G>T c.368G>T (p.Gly123Val) c.*330G>T (n.*330G>T) c.578G>T (p.Gly193Val) c.581G>T (p.Gly194Val) | |
| X | g.154534494C= | CA2740130064 | G6PD | c.488G= (p.Gly163=) c.491G= (p.Gly164=) c.351G= c.354G= c.368G= (p.Gly123=) c.*330G= (n.*330G=) c.578G= (p.Gly193=) c.581G= (p.Gly194=) | |
| X | g.154534494C>G | CA415238220 | G6PD | c.488G>C (p.Gly163Ala) c.491G>C (p.Gly164Ala) c.351G>C c.354G>C c.368G>C (p.Gly123Ala) c.*330G>C (n.*330G>C) c.578G>C (p.Gly193Ala) c.581G>C (p.Gly194Ala) | |
| X | g.154534494C>T | CA415238222 | G6PD | c.488G>A (p.Gly163Asp) c.491G>A (p.Gly164Asp) c.351G>A c.354G>A c.368G>A (p.Gly123Asp) c.*330G>A (n.*330G>A) c.578G>A (p.Gly193Asp) c.581G>A (p.Gly194Asp) | ClinVar |
| X | g.154534495C>A | CA415238224 | G6PD | c.487G>T (p.Gly163Cys) c.490G>T (p.Gly164Cys) c.350G>T c.353G>T c.367G>T (p.Gly123Cys) c.*329G>T (n.*329G>T) c.577G>T (p.Gly193Cys) c.580G>T (p.Gly194Cys) | |
| X | g.154534495C= | CA2466724205 | G6PD | c.487G= (p.Gly163=) c.490G= (p.Gly164=) c.350G= c.353G= c.367G= (p.Gly123=) c.*329G= (n.*329G=) c.577G= (p.Gly193=) c.580G= (p.Gly194=) | |
| X | g.154534495C>G | CA415238226 | G6PD | c.487G>C (p.Gly163Arg) c.490G>C (p.Gly164Arg) c.350G>C c.353G>C c.367G>C (p.Gly123Arg) c.*329G>C (n.*329G>C) c.577G>C (p.Gly193Arg) c.580G>C (p.Gly194Arg) | |
| X | g.154534495C>T | CA120953 | G6PD | c.487G>A (p.Gly163Ser) c.490G>A (p.Gly164Ser) c.350G>A c.353G>A c.367G>A (p.Gly123Ser) c.*329G>A (n.*329G>A) c.577G>A (p.Gly193Ser) c.580G>A (p.Gly194Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154534496T>A | CA415238227 | G6PD | c.486A>T (p.Ile162=) c.489A>T (p.Arg163Ser) c.349A>T c.352A>T c.366A>T (p.Ile122=) c.*328A>T (n.*328A>T) c.576A>T (p.Ile192=) c.579A>T (p.Arg193Ser) | |
| X | g.154534496T>C | CA415238229 | G6PD | c.486A>G (p.Ile162Met) c.489A>G (p.Arg163=) c.349A>G c.352A>G c.366A>G (p.Ile122Met) c.*328A>G (n.*328A>G) c.576A>G (p.Ile192Met) c.579A>G (p.Arg193=) | |
| X | g.154534496T>G | CA415238231 | G6PD | c.486A>C (p.Ile162=) c.489A>C (p.Arg163Ser) c.349A>C c.352A>C c.366A>C (p.Ile122=) c.*328A>C (n.*328A>C) c.576A>C (p.Ile192=) c.579A>C (p.Arg193Ser) | gnomAD v4 |
| X | g.154534497C>A | CA415238235 | G6PD | c.486-1G>T (n.486-1G>T) c.488G>T (p.Arg163Ile) c.349-1G>T c.351G>T c.366-1G>T (n.366-1G>T) c.*328-1G>T (n.*328-1G>T) c.576-1G>T (n.576-1G>T) c.578G>T (p.Arg193Ile) | |
| X | g.154534497C>G | CA415238234 | G6PD | c.486-1G>C (n.486-1G>C) c.488G>C (p.Arg163Thr) c.349-1G>C c.351G>C c.366-1G>C (n.366-1G>C) c.*328-1G>C (n.*328-1G>C) c.576-1G>C (n.576-1G>C) c.578G>C (p.Arg193Thr) | |
| X | g.154534497C>T | CA415238233 | G6PD | c.486-1G>A (n.486-1G>A) c.488G>A (p.Arg163Lys) c.349-1G>A c.351G>A c.366-1G>A (n.366-1G>A) c.*328-1G>A (n.*328-1G>A) c.576-1G>A (n.576-1G>A) c.578G>A (p.Arg193Lys) | |
| X | g.154534498T>A | CA415238237 | G6PD | c.486-2A>T (n.486-2A>T) c.487A>T (p.Arg163Ter) c.349-2A>T c.350A>T c.366-2A>T (n.366-2A>T) c.*328-2A>T (n.*328-2A>T) c.576-2A>T (n.576-2A>T) c.577A>T (p.Arg193Ter) | |
| X | g.154534498T>C | CA415238238 | G6PD | c.486-2A>G (n.486-2A>G) c.487A>G (p.Arg163Gly) c.349-2A>G c.350A>G c.366-2A>G (n.366-2A>G) c.*328-2A>G (n.*328-2A>G) c.576-2A>G (n.576-2A>G) c.577A>G (p.Arg193Gly) | |
| X | g.154534498T>G | CA415238240 | G6PD | c.486-2A>C (n.486-2A>C) c.487A>C (p.Arg163=) c.349-2A>C c.350A>C c.366-2A>C (n.366-2A>C) c.*328-2A>C (n.*328-2A>C) c.576-2A>C (n.576-2A>C) c.577A>C (p.Arg193=) | |
| X | g.154534499G>C | CA415238241 | G6PD | c.486-3C>G (n.486-3C>G) c.486C>G (p.Ile162Met) c.349-3C>G c.349C>G c.366-3C>G (n.366-3C>G) c.*328-3C>G (n.*328-3C>G) c.576-3C>G (n.576-3C>G) c.576C>G (p.Ile192Met) | |
| X | g.154534500C>A | CA415238242 | G6PD | c.486-4G>T (n.486-4G>T) c.486-1G>T (n.486-1G>T) c.349-4G>T c.349-1G>T c.366-4G>T (n.366-4G>T) c.*328-4G>T (n.*328-4G>T) c.576-4G>T (n.576-4G>T) c.576-1G>T (n.576-1G>T) | |
| X | g.154534500C>G | CA415238243 | G6PD | c.486-4G>C (n.486-4G>C) c.486-1G>C (n.486-1G>C) c.349-4G>C c.349-1G>C c.366-4G>C (n.366-4G>C) c.*328-4G>C (n.*328-4G>C) c.576-4G>C (n.576-4G>C) c.576-1G>C (n.576-1G>C) | |
| X | g.154534500C>T | CA415238245 | G6PD | c.486-4G>A (n.486-4G>A) c.486-1G>A (n.486-1G>A) c.349-4G>A c.349-1G>A c.366-4G>A (n.366-4G>A) c.*328-4G>A (n.*328-4G>A) c.576-4G>A (n.576-4G>A) c.576-1G>A (n.576-1G>A) | gnomAD v4 |
| X | g.154534500_154534501delinsCT | CA2466724206 | G6PD | c.486-5_486-4delinsAG (n.486-5_486-4delinsAG) c.486-2_486-1delinsAG (n.486-2_486-1delinsAG) c.349-5_349-4delinsAG c.349-2_349-1delinsAG c.366-5_366-4delinsAG (n.366-5_366-4delinsAG) c.*328-5_*328-4delinsAG (n.*328-5_*328-4delinsAG) c.576-5_576-4delinsAG (n.576-5_576-4delinsAG) c.576-2_576-1delinsAG (n.576-2_576-1delinsAG) | |
| X | g.154534501del | CA2466724207 | G6PD | c.486-5del (n.486-5del) c.486-2del (n.486-2del) c.349-5del c.349-2del c.366-5del (n.366-5del) c.*328-5del (n.*328-5del) c.576-5del (n.576-5del) c.576-2del (n.576-2del) | dbSNP |
| X | g.154534501T>A | CA415238247 | G6PD | c.486-5A>T (n.486-5A>T) c.486-2A>T (n.486-2A>T) c.349-5A>T c.349-2A>T c.366-5A>T (n.366-5A>T) c.*328-5A>T (n.*328-5A>T) c.576-5A>T (n.576-5A>T) c.576-2A>T (n.576-2A>T) | |
| X | g.154534501T>C | CA415238249 | G6PD | c.486-5A>G (n.486-5A>G) c.486-2A>G (n.486-2A>G) c.349-5A>G c.349-2A>G c.366-5A>G (n.366-5A>G) c.*328-5A>G (n.*328-5A>G) c.576-5A>G (n.576-5A>G) c.576-2A>G (n.576-2A>G) | |
| X | g.154534501T>G | CA415238250 | G6PD | c.486-5A>C (n.486-5A>C) c.486-2A>C (n.486-2A>C) c.349-5A>C c.349-2A>C c.366-5A>C (n.366-5A>C) c.*328-5A>C (n.*328-5A>C) c.576-5A>C (n.576-5A>C) c.576-2A>C (n.576-2A>C) | |
| X | g.154534502G>A | CA2697544880 | G6PD | c.486-6C>T (n.486-6C>T) c.486-3C>T (n.486-3C>T) c.349-6C>T c.349-3C>T c.366-6C>T (n.366-6C>T) c.*328-6C>T (n.*328-6C>T) c.576-6C>T (n.576-6C>T) c.576-3C>T (n.576-3C>T) | ClinVar |
| X | g.154534506G>A | CA2695147055 | G6PD | c.486-10C>T (n.486-10C>T) c.486-7C>T (n.486-7C>T) c.349-10C>T c.349-7C>T c.366-10C>T (n.366-10C>T) c.*328-10C>T (n.*328-10C>T) c.576-10C>T (n.576-10C>T) c.576-7C>T (n.576-7C>T) | ClinVar gnomAD v4 |
| X | g.154534507C>T | CA2695147056 | G6PD | c.486-11G>A (n.486-11G>A) c.486-8G>A (n.486-8G>A) c.349-11G>A c.349-8G>A c.366-11G>A (n.366-11G>A) c.*328-11G>A (n.*328-11G>A) c.576-11G>A (n.576-11G>A) c.576-8G>A (n.576-8G>A) | gnomAD v4 |
| X | g.154534509C>T | CA2579742095 | G6PD | c.486-13G>A (n.486-13G>A) c.486-10G>A (n.486-10G>A) c.349-13G>A c.349-10G>A c.366-13G>A (n.366-13G>A) c.*328-13G>A (n.*328-13G>A) c.576-13G>A (n.576-13G>A) c.576-10G>A (n.576-10G>A) | gnomAD v4 |