| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.43192325C>A | CA460578180 | HGSNAT | c.1272C>A (p.Gly424=) n.205C>A c.423C>A (p.Gly141=) c.376C>A c.1080C>A (p.Gly360=) c.408C>A (p.Gly136=) | |
| 8 | g.43192325C= | CA1779759943 | HGSNAT | c.1272C= (p.Gly424=) n.205C= c.423C= (p.Gly141=) c.376C= c.1080C= (p.Gly360=) c.408C= (p.Gly136=) | |
| 8 | g.43192325C>G | CA460578183 | HGSNAT | c.1272C>G (p.Gly424=) n.205C>G c.423C>G (p.Gly141=) c.376C>G c.1080C>G (p.Gly360=) c.408C>G (p.Gly136=) | |
| 8 | g.43192325C>T | CA4736834 | HGSNAT | c.1272C>T (p.Gly424=) n.205C>T c.423C>T (p.Gly141=) c.376C>T c.1080C>T (p.Gly360=) c.408C>T (p.Gly136=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43192326A>C | CA371119575 | HGSNAT | c.1273A>C (p.Ile425Leu) n.206A>C c.424A>C (p.Ile142Leu) c.377A>C c.1081A>C (p.Ile361Leu) c.409A>C (p.Ile137Leu) | gnomAD v4 |
| 8 | g.43192326A>G | CA371119577 | HGSNAT | c.1273A>G (p.Ile425Val) n.206A>G c.424A>G (p.Ile142Val) c.377A>G c.1081A>G (p.Ile361Val) c.409A>G (p.Ile137Val) | gnomAD v4 |
| 8 | g.43192326A>T | CA371119576 | HGSNAT | c.1273A>T (p.Ile425Phe) n.206A>T c.424A>T (p.Ile142Phe) c.377A>T c.1081A>T (p.Ile361Phe) c.409A>T (p.Ile137Phe) | |
| 8 | g.43192327T>A | CA371119578 | HGSNAT | c.1274T>A (p.Ile425Asn) n.207T>A c.425T>A (p.Ile142Asn) c.378T>A c.1082T>A (p.Ile361Asn) c.410T>A (p.Ile137Asn) | |
| 8 | g.43192327T>C | CA371119579 | HGSNAT | c.1274T>C (p.Ile425Thr) n.207T>C c.425T>C (p.Ile142Thr) c.378T>C c.1082T>C (p.Ile361Thr) c.410T>C (p.Ile137Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.43192327T>G | CA371119580 | HGSNAT | c.1274T>G (p.Ile425Ser) n.207T>G c.425T>G (p.Ile142Ser) c.378T>G c.1082T>G (p.Ile361Ser) c.410T>G (p.Ile137Ser) | gnomAD v4 |
| 8 | g.43192327T= | CA1779759944 | HGSNAT | c.1274T= (p.Ile425=) n.207T= c.425T= (p.Ile142=) c.378T= c.1082T= (p.Ile361=) c.410T= (p.Ile137=) | |
| 8 | g.43192328T>A | CA460578200 | HGSNAT | c.1275T>A (p.Ile425=) n.208T>A c.426T>A (p.Ile142=) c.379T>A c.1083T>A (p.Ile361=) c.411T>A (p.Ile137=) | |
| 8 | g.43192328T>C | CA460578203 | HGSNAT | c.1275T>C (p.Ile425=) n.208T>C c.426T>C (p.Ile142=) c.379T>C c.1083T>C (p.Ile361=) c.411T>C (p.Ile137=) | ClinVar dbSNP |
| 8 | g.43192328T>G | CA371119581 | HGSNAT | c.1275T>G (p.Ile425Met) n.208T>G c.426T>G (p.Ile142Met) c.379T>G c.1083T>G (p.Ile361Met) c.411T>G (p.Ile137Met) | |
| 8 | g.43192328T= | CA1779759945 | HGSNAT | c.1275T= (p.Ile425=) n.208T= c.426T= (p.Ile142=) c.379T= c.1083T= (p.Ile361=) c.411T= (p.Ile137=) | |
| 8 | g.43192329G>A | CA371119582 | HGSNAT | c.1276G>A (p.Gly426Arg) n.209G>A c.427G>A (p.Gly143Arg) c.380G>A c.1084G>A (p.Gly362Arg) c.412G>A (p.Gly138Arg) | dbSNP gnomAD v2 |
| 8 | g.43192329G>C | CA371119584 | HGSNAT | c.1276G>C (p.Gly426Arg) n.209G>C c.427G>C (p.Gly143Arg) c.380G>C c.1084G>C (p.Gly362Arg) c.412G>C (p.Gly138Arg) | |
| 8 | g.43192329G= | CA1779759946 | HGSNAT | c.1276G= (p.Gly426=) n.209G= c.427G= (p.Gly143=) c.380G= c.1084G= (p.Gly362=) c.412G= (p.Gly138=) | |
| 8 | g.43192329G>T | CA371119583 | HGSNAT | c.1276G>T (p.Gly426Ter) n.209G>T c.427G>T (p.Gly143Ter) c.380G>T c.1084G>T (p.Gly362Ter) c.412G>T (p.Gly138Ter) | |
| 8 | g.43192330G>A | CA371119585 | HGSNAT | c.1277G>A (p.Gly426Glu) n.210G>A c.428G>A (p.Gly143Glu) c.381G>A c.1085G>A (p.Gly362Glu) c.413G>A (p.Gly138Glu) | |
| 8 | g.43192330G>C | CA371119586 | HGSNAT | c.1277G>C (p.Gly426Ala) n.210G>C c.428G>C (p.Gly143Ala) c.381G>C c.1085G>C (p.Gly362Ala) c.413G>C (p.Gly138Ala) | |
| 8 | g.43192330G>T | CA371119587 | HGSNAT | c.1277G>T (p.Gly426Val) n.210G>T c.428G>T (p.Gly143Val) c.381G>T c.1085G>T (p.Gly362Val) c.413G>T (p.Gly138Val) | |
| 8 | g.43192331A>C | CA460578217 | HGSNAT | c.1278A>C (p.Gly426=) n.211A>C c.429A>C (p.Gly143=) c.382A>C c.1086A>C (p.Gly362=) c.414A>C (p.Gly138=) | |
| 8 | g.43192331A>G | CA460578220 | HGSNAT | c.1278A>G (p.Gly426=) n.211A>G c.429A>G (p.Gly143=) c.382A>G c.1086A>G (p.Gly362=) c.414A>G (p.Gly138=) | |
| 8 | g.43192331A>T | CA460578223 | HGSNAT | c.1278A>T (p.Gly426=) n.211A>T c.429A>T (p.Gly143=) c.382A>T c.1086A>T (p.Gly362=) c.414A>T (p.Gly138=) | |
| 8 | g.43192332G>A | CA371119588 | HGSNAT | c.1279G>A (p.Asp427Asn) n.212G>A c.430G>A (p.Asp144Asn) c.383G>A c.1087G>A (p.Asp363Asn) c.415G>A (p.Asp139Asn) | |
| 8 | g.43192332G>C | CA371119589 | HGSNAT | c.1279G>C (p.Asp427His) n.212G>C c.430G>C (p.Asp144His) c.383G>C c.1087G>C (p.Asp363His) c.415G>C (p.Asp139His) | |
| 8 | g.43192332G>T | CA371119590 | HGSNAT | c.1279G>T (p.Asp427Tyr) n.212G>T c.430G>T (p.Asp144Tyr) c.383G>T c.1087G>T (p.Asp363Tyr) c.415G>T (p.Asp139Tyr) | |
| 8 | g.43192333A>C | CA371119591 | HGSNAT | c.1280A>C (p.Asp427Ala) n.213A>C c.431A>C (p.Asp144Ala) c.384A>C c.1088A>C (p.Asp363Ala) c.416A>C (p.Asp139Ala) | |
| 8 | g.43192333A>G | CA371119592 | HGSNAT | c.1280A>G (p.Asp427Gly) n.213A>G c.431A>G (p.Asp144Gly) c.384A>G c.1088A>G (p.Asp363Gly) c.416A>G (p.Asp139Gly) | |
| 8 | g.43192333A>T | CA371119593 | HGSNAT | c.1280A>T (p.Asp427Val) n.213A>T c.431A>T (p.Asp144Val) c.384A>T c.1088A>T (p.Asp363Val) c.416A>T (p.Asp139Val) | |
| 8 | g.43192334T>A | CA371119594 | HGSNAT | c.1281T>A (p.Asp427Glu) n.214T>A c.432T>A (p.Asp144Glu) c.385T>A c.1089T>A (p.Asp363Glu) c.417T>A (p.Asp139Glu) | |
| 8 | g.43192334T>C | CA460578240 | HGSNAT | c.1281T>C (p.Asp427=) n.214T>C c.432T>C (p.Asp144=) c.385T>C c.1089T>C (p.Asp363=) c.417T>C (p.Asp139=) | ClinVar |
| 8 | g.43192334T>G | CA371119595 | HGSNAT | c.1281T>G (p.Asp427Glu) n.214T>G c.432T>G (p.Asp144Glu) c.385T>G c.1089T>G (p.Asp363Glu) c.417T>G (p.Asp139Glu) | |
| 8 | g.43192335T>A | CA371119596 | HGSNAT | c.1282T>A (p.Phe428Ile) n.215T>A c.433T>A (p.Phe145Ile) c.386T>A c.1090T>A (p.Phe364Ile) c.418T>A (p.Phe140Ile) | gnomAD v4 |
| 8 | g.43192335T>C | CA371119597 | HGSNAT | c.1282T>C (p.Phe428Leu) n.215T>C c.433T>C (p.Phe145Leu) c.386T>C c.1090T>C (p.Phe364Leu) c.418T>C (p.Phe140Leu) | |
| 8 | g.43192335T>G | CA371119598 | HGSNAT | c.1282T>G (p.Phe428Val) n.215T>G c.433T>G (p.Phe145Val) c.386T>G c.1090T>G (p.Phe364Val) c.418T>G (p.Phe140Val) | |
| 8 | g.43192336T>A | CA371119600 | HGSNAT | c.1283T>A (p.Phe428Tyr) n.216T>A c.434T>A (p.Phe145Tyr) c.387T>A c.1091T>A (p.Phe364Tyr) c.419T>A (p.Phe140Tyr) | |
| 8 | g.43192336T>C | CA371119599 | HGSNAT | c.1283T>C (p.Phe428Ser) n.216T>C c.434T>C (p.Phe145Ser) c.387T>C c.1091T>C (p.Phe364Ser) c.419T>C (p.Phe140Ser) | |
| 8 | g.43192336T>G | CA4736835 | HGSNAT | c.1283T>G (p.Phe428Cys) n.216T>G c.434T>G (p.Phe145Cys) c.387T>G c.1091T>G (p.Phe364Cys) c.419T>G (p.Phe140Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43192336T= | CA1779759947 | HGSNAT | c.1283T= (p.Phe428=) n.216T= c.434T= (p.Phe145=) c.387T= c.1091T= (p.Phe364=) c.419T= (p.Phe140=) | |
| 8 | g.43192337T>A | CA371119601 | HGSNAT | c.1284T>A (p.Phe428Leu) n.217T>A c.435T>A (p.Phe145Leu) c.388T>A c.1092T>A (p.Phe364Leu) c.420T>A (p.Phe140Leu) | |
| 8 | g.43192337T>C | CA460578250 | HGSNAT | c.1284T>C (p.Phe428=) n.217T>C c.435T>C (p.Phe145=) c.388T>C c.1092T>C (p.Phe364=) c.420T>C (p.Phe140=) | |
| 8 | g.43192337T>G | CA371119602 | HGSNAT | c.1284T>G (p.Phe428Leu) n.217T>G c.435T>G (p.Phe145Leu) c.388T>G c.1092T>G (p.Phe364Leu) c.420T>G (p.Phe140Leu) | |
| 8 | g.43192338G>A | CA371119603 | HGSNAT | c.1285G>A (p.Gly429Ser) n.218G>A c.436G>A (p.Gly146Ser) c.389G>A c.1093G>A (p.Gly365Ser) c.421G>A (p.Gly141Ser) | |
| 8 | g.43192338G>C | CA371119604 | HGSNAT | c.1285G>C (p.Gly429Arg) n.218G>C c.436G>C (p.Gly146Arg) c.389G>C c.1093G>C (p.Gly365Arg) c.421G>C (p.Gly141Arg) | |
| 8 | g.43192338G>T | CA371119605 | HGSNAT | c.1285G>T (p.Gly429Cys) n.218G>T c.436G>T (p.Gly146Cys) c.389G>T c.1093G>T (p.Gly365Cys) c.421G>T (p.Gly141Cys) | gnomAD v4 |
| 8 | g.43192339G>A | CA371119606 | HGSNAT | c.1286G>A (p.Gly429Asp) n.219G>A c.437G>A (p.Gly146Asp) c.390G>A c.1094G>A (p.Gly365Asp) c.422G>A (p.Gly141Asp) | |
| 8 | g.43192339G>C | CA371119607 | HGSNAT | c.1286G>C (p.Gly429Ala) n.219G>C c.437G>C (p.Gly146Ala) c.390G>C c.1094G>C (p.Gly365Ala) c.422G>C (p.Gly141Ala) | |
| 8 | g.43192339G>T | CA371119608 | HGSNAT | c.1286G>T (p.Gly429Val) n.219G>T c.437G>T (p.Gly146Val) c.390G>T c.1094G>T (p.Gly365Val) c.422G>T (p.Gly141Val) | ClinVar |