Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
8 | g.43192340C>A | CA460578260 | HGSNAT | c.1287C>A (p.Gly429=) n.220C>A c.438C>A (p.Gly146=) c.391C>A c.1095C>A (p.Gly365=) c.423C>A (p.Gly141=) | |
8 | g.43192340C>G | CA460578262 | HGSNAT | c.1287C>G (p.Gly429=) n.220C>G c.438C>G (p.Gly146=) c.391C>G c.1095C>G (p.Gly365=) c.423C>G (p.Gly141=) | |
8 | g.43192340C>T | CA460578264 | HGSNAT | c.1287C>T (p.Gly429=) n.220C>T c.438C>T (p.Gly146=) c.391C>T c.1095C>T (p.Gly365=) c.423C>T (p.Gly141=) | |
8 | g.43192341A= | CA1779759948 | HGSNAT | c.1288A= (p.Lys430=) n.221A= c.439A= (p.Lys147=) c.392A= c.1096A= (p.Lys366=) c.424A= (p.Lys142=) | |
8 | g.43192341A>C | CA371119609 | HGSNAT | c.1288A>C (p.Lys430Gln) n.221A>C c.439A>C (p.Lys147Gln) c.392A>C c.1096A>C (p.Lys366Gln) c.424A>C (p.Lys142Gln) | |
8 | g.43192341A>G | CA371119610 | HGSNAT | c.1288A>G (p.Lys430Glu) n.221A>G c.439A>G (p.Lys147Glu) c.392A>G c.1096A>G (p.Lys366Glu) c.424A>G (p.Lys142Glu) | dbSNP gnomAD v4 |
8 | g.43192341A>T | CA371119611 | HGSNAT | c.1288A>T (p.Lys430Ter) n.221A>T c.439A>T (p.Lys147Ter) c.392A>T c.1096A>T (p.Lys366Ter) c.424A>T (p.Lys142Ter) | |
8 | g.43192342A= | CA1779759949 | HGSNAT | c.1289A= (p.Lys430=) n.222A= c.440A= (p.Lys147=) c.393A= c.1097A= (p.Lys366=) c.425A= (p.Lys142=) | |
8 | g.43192342A>C | CA371119612 | HGSNAT | c.1289A>C (p.Lys430Thr) n.222A>C c.440A>C (p.Lys147Thr) c.393A>C c.1097A>C (p.Lys366Thr) c.425A>C (p.Lys142Thr) | |
8 | g.43192342A>G | CA371119613 | HGSNAT | c.1289A>G (p.Lys430Arg) n.222A>G c.440A>G (p.Lys147Arg) c.393A>G c.1097A>G (p.Lys366Arg) c.425A>G (p.Lys142Arg) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.43192342A>T | CA371119614 | HGSNAT | c.1289A>T (p.Lys430Met) n.222A>T c.440A>T (p.Lys147Met) c.393A>T c.1097A>T (p.Lys366Met) c.425A>T (p.Lys142Met) | |
8 | g.43192343G>A | CA4736836 | HGSNAT | c.1290G>A (p.Lys430=) n.223G>A c.441G>A (p.Lys147=) c.394G>A c.1098G>A (p.Lys366=) c.426G>A (p.Lys142=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43192343G>C | CA371119616 | HGSNAT | c.1290G>C (p.Lys430Asn) n.223G>C c.441G>C (p.Lys147Asn) c.394G>C c.1098G>C (p.Lys366Asn) c.426G>C (p.Lys142Asn) | |
8 | g.43192343G= | CA1779759950 | HGSNAT | c.1290G= (p.Lys430=) n.223G= c.441G= (p.Lys147=) c.394G= c.1098G= (p.Lys366=) c.426G= (p.Lys142=) | |
8 | g.43192343G>T | CA371119615 | HGSNAT | c.1290G>T (p.Lys430Asn) n.223G>T c.441G>T (p.Lys147Asn) c.394G>T c.1098G>T (p.Lys366Asn) c.426G>T (p.Lys142Asn) |