| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.43193824T>A | CA114867 | HGSNAT | c.1445T>A (p.Met482Lys) n.378T>A c.596T>A (p.Met199Lys) c.549T>A c.1253T>A (p.Met418Lys) c.581T>A (p.Met194Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43193824T>C | CA371119948 | HGSNAT | c.1445T>C (p.Met482Thr) n.378T>C c.596T>C (p.Met199Thr) c.549T>C c.1253T>C (p.Met418Thr) c.581T>C (p.Met194Thr) | |
| 8 | g.43193824T>G | CA371119949 | HGSNAT | c.1445T>G (p.Met482Arg) n.378T>G c.596T>G (p.Met199Arg) c.549T>G c.1253T>G (p.Met418Arg) c.581T>G (p.Met194Arg) | |
| 8 | g.43193824T= | CA1779760597 | HGSNAT | c.1445T= (p.Met482=) n.378T= c.596T= (p.Met199=) c.549T= c.1253T= (p.Met418=) c.581T= (p.Met194=) | |
| 8 | g.43193825G>A | CA371119950 | HGSNAT | c.1446G>A (p.Met482Ile) n.379G>A c.597G>A (p.Met199Ile) c.550G>A c.1254G>A (p.Met418Ile) c.582G>A (p.Met194Ile) | |
| 8 | g.43193825G>C | CA371119951 | HGSNAT | c.1446G>C (p.Met482Ile) n.379G>C c.597G>C (p.Met199Ile) c.550G>C c.1254G>C (p.Met418Ile) c.582G>C (p.Met194Ile) | |
| 8 | g.43193825G>T | CA371119952 | HGSNAT | c.1446G>T (p.Met482Ile) n.379G>T c.597G>T (p.Met199Ile) c.550G>T c.1254G>T (p.Met418Ile) c.582G>T (p.Met194Ile) | |
| 8 | g.43193826G>A | CA371119954 | HGSNAT | c.1447G>A (p.Ala483Thr) n.380G>A c.598G>A (p.Ala200Thr) c.551G>A c.1255G>A (p.Ala419Thr) c.583G>A (p.Ala195Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.43193826G>C | CA371119955 | HGSNAT | c.1447G>C (p.Ala483Pro) n.380G>C c.598G>C (p.Ala200Pro) c.551G>C c.1255G>C (p.Ala419Pro) c.583G>C (p.Ala195Pro) | |
| 8 | g.43193826G= | CA1779760599 | HGSNAT | c.1447G= (p.Ala483=) n.380G= c.598G= (p.Ala200=) c.551G= c.1255G= (p.Ala419=) c.583G= (p.Ala195=) | |
| 8 | g.43193826G>T | CA371119953 | HGSNAT | c.1447G>T (p.Ala483Ser) n.380G>T c.598G>T (p.Ala200Ser) c.551G>T c.1255G>T (p.Ala419Ser) c.583G>T (p.Ala195Ser) | |
| 8 | g.43193826_43193827delinsGC | CA1779760598 | HGSNAT | c.1447_1448delinsGC (p.Ala483=) n.380_381delinsGC c.598_599delinsGC (p.Ala200=) c.551_552delinsGC c.1255_1256delinsGC (p.Ala419=) c.583_584delinsGC (p.Ala195=) | |
| 8 | g.43193827C>A | CA371119956 | HGSNAT | c.1448C>A (p.Ala483Asp) n.381C>A c.599C>A (p.Ala200Asp) c.552C>A c.1256C>A (p.Ala419Asp) c.584C>A (p.Ala195Asp) | |
| 8 | g.43193827C>G | CA371119957 | HGSNAT | c.1448C>G (p.Ala483Gly) n.381C>G c.599C>G (p.Ala200Gly) c.552C>G c.1256C>G (p.Ala419Gly) c.584C>G (p.Ala195Gly) | |
| 8 | g.43193827C>T | CA371119958 | HGSNAT | c.1448C>T (p.Ala483Val) n.381C>T c.599C>T (p.Ala200Val) c.552C>T c.1256C>T (p.Ala419Val) c.584C>T (p.Ala195Val) | gnomAD v4 |
| 8 | g.43193828del | CA4736881 | HGSNAT | c.1449del (p.Leu485Ter) n.382del c.600del (p.Leu202Ter) c.553del c.1257del (p.Leu421Ter) c.585del (p.Leu197Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.43193828C>A | CA460579324 | HGSNAT | c.1449C>A (p.Ala483=) n.382C>A c.600C>A (p.Ala200=) c.553C>A c.1257C>A (p.Ala419=) c.585C>A (p.Ala195=) | |
| 8 | g.43193828C>G | CA460579325 | HGSNAT | c.1449C>G (p.Ala483=) n.382C>G c.600C>G (p.Ala200=) c.553C>G c.1257C>G (p.Ala419=) c.585C>G (p.Ala195=) | |
| 8 | g.43193828C>T | CA460579327 | HGSNAT | c.1449C>T (p.Ala483=) n.382C>T c.600C>T (p.Ala200=) c.553C>T c.1257C>T (p.Ala419=) c.585C>T (p.Ala195=) | |
| 8 | g.43193829T>A | CA371119961 | HGSNAT | c.1450T>A (p.Phe484Ile) n.383T>A c.601T>A (p.Phe201Ile) c.554T>A c.1258T>A (p.Phe420Ile) c.586T>A (p.Phe196Ile) | |
| 8 | g.43193829T>C | CA371119960 | HGSNAT | c.1450T>C (p.Phe484Leu) n.383T>C c.601T>C (p.Phe201Leu) c.554T>C c.1258T>C (p.Phe420Leu) c.586T>C (p.Phe196Leu) | |
| 8 | g.43193829T>G | CA371119959 | HGSNAT | c.1450T>G (p.Phe484Val) n.383T>G c.601T>G (p.Phe201Val) c.554T>G c.1258T>G (p.Phe420Val) c.586T>G (p.Phe196Val) | |
| 8 | g.43193830T>A | CA371119962 | HGSNAT | c.1451T>A (p.Phe484Tyr) n.384T>A c.602T>A (p.Phe201Tyr) c.555T>A c.1259T>A (p.Phe420Tyr) c.587T>A (p.Phe196Tyr) | |
| 8 | g.43193830T>C | CA371119963 | HGSNAT | c.1451T>C (p.Phe484Ser) n.384T>C c.602T>C (p.Phe201Ser) c.555T>C c.1259T>C (p.Phe420Ser) c.587T>C (p.Phe196Ser) | |
| 8 | g.43193830T>G | CA371119964 | HGSNAT | c.1451T>G (p.Phe484Cys) n.384T>G c.602T>G (p.Phe201Cys) c.555T>G c.1259T>G (p.Phe420Cys) c.587T>G (p.Phe196Cys) | |
| 8 | g.43193831T>A | CA371119965 | HGSNAT | c.1452T>A (p.Phe484Leu) n.385T>A c.603T>A (p.Phe201Leu) c.556T>A c.1260T>A (p.Phe420Leu) c.588T>A (p.Phe196Leu) | |
| 8 | g.43193831T>C | CA460579336 | HGSNAT | c.1452T>C (p.Phe484=) n.385T>C c.603T>C (p.Phe201=) c.556T>C c.1260T>C (p.Phe420=) c.588T>C (p.Phe196=) | ClinVar dbSNP |
| 8 | g.43193831T>G | CA371119966 | HGSNAT | c.1452T>G (p.Phe484Leu) n.385T>G c.603T>G (p.Phe201Leu) c.556T>G c.1260T>G (p.Phe420Leu) c.588T>G (p.Phe196Leu) | |
| 8 | g.43193832T>A | CA371119967 | HGSNAT | c.1453T>A (p.Leu485Ile) n.386T>A c.604T>A (p.Leu202Ile) c.557T>A c.1261T>A (p.Leu421Ile) c.589T>A (p.Leu197Ile) | |
| 8 | g.43193832T>C | CA460579341 | HGSNAT | c.1453T>C (p.Leu485=) n.386T>C c.604T>C (p.Leu202=) c.557T>C c.1261T>C (p.Leu421=) c.589T>C (p.Leu197=) | ClinVar |
| 8 | g.43193832T>G | CA371119968 | HGSNAT | c.1453T>G (p.Leu485Val) n.386T>G c.604T>G (p.Leu202Val) c.557T>G c.1261T>G (p.Leu421Val) c.589T>G (p.Leu197Val) | dbSNP |
| 8 | g.43193832T= | CA1779760600 | HGSNAT | c.1453T= (p.Leu485=) n.386T= c.604T= (p.Leu202=) c.557T= c.1261T= (p.Leu421=) c.589T= (p.Leu197=) | |
| 8 | g.43193833T>A | CA371119970 | HGSNAT | c.1454T>A (p.Leu485Ter) n.387T>A c.605T>A (p.Leu202Ter) c.558T>A c.1262T>A (p.Leu421Ter) c.590T>A (p.Leu197Ter) | |
| 8 | g.43193833T>C | CA371119971 | HGSNAT | c.1454T>C (p.Leu485Ser) n.387T>C c.605T>C (p.Leu202Ser) c.558T>C c.1262T>C (p.Leu421Ser) c.590T>C (p.Leu197Ser) | |
| 8 | g.43193833T>G | CA371119969 | HGSNAT | c.1454T>G (p.Leu485Ter) n.387T>G c.605T>G (p.Leu202Ter) c.558T>G c.1262T>G (p.Leu421Ter) c.590T>G (p.Leu197Ter) | |
| 8 | g.43193834A= | CA1779760601 | HGSNAT | c.1455A= (p.Leu485=) n.388A= c.606A= (p.Leu202=) c.559A= c.1263A= (p.Leu421=) c.591A= (p.Leu197=) | |
| 8 | g.43193834A>C | CA371119972 | HGSNAT | c.1455A>C (p.Leu485Phe) n.388A>C c.606A>C (p.Leu202Phe) c.559A>C c.1263A>C (p.Leu421Phe) c.591A>C (p.Leu197Phe) | |
| 8 | g.43193834A>G | CA460579348 | HGSNAT | c.1455A>G (p.Leu485=) n.388A>G c.606A>G (p.Leu202=) c.559A>G c.1263A>G (p.Leu421=) c.591A>G (p.Leu197=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.43193834A>T | CA371119973 | HGSNAT | c.1455A>T (p.Leu485Phe) n.388A>T c.606A>T (p.Leu202Phe) c.559A>T c.1263A>T (p.Leu421Phe) c.591A>T (p.Leu197Phe) | |
| 8 | g.43193834dup | CA2580614355 | HGSNAT | c.1455dup (p.Gly486ArgfsTer?) n.388dup c.606dup (p.Gly203ArgfsTer?) c.559dup c.1263dup (p.Gly422ArgfsTer?) c.591dup (p.Gly198ArgfsTer?) | ClinVar |
| 8 | g.43193835G>A | CA4736882 | HGSNAT | c.1456G>A (p.Gly486Arg) n.389G>A c.607G>A (p.Gly203Arg) c.560G>A c.1264G>A (p.Gly422Arg) c.592G>A (p.Gly198Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43193835G>C | CA371119975 | HGSNAT | c.1456G>C (p.Gly486Arg) n.389G>C c.607G>C (p.Gly203Arg) c.560G>C c.1264G>C (p.Gly422Arg) c.592G>C (p.Gly198Arg) | |
| 8 | g.43193835G= | CA1779760602 | HGSNAT | c.1456G= (p.Gly486=) n.389G= c.607G= (p.Gly203=) c.560G= c.1264G= (p.Gly422=) c.592G= (p.Gly198=) | |
| 8 | g.43193835G>T | CA371119974 | HGSNAT | c.1456G>T (p.Gly486Ter) n.389G>T c.607G>T (p.Gly203Ter) c.560G>T c.1264G>T (p.Gly422Ter) c.592G>T (p.Gly198Ter) | |
| 8 | g.43193836G>A | CA371119976 | HGSNAT | c.1457G>A (p.Gly486Glu) n.390G>A c.608G>A (p.Gly203Glu) c.561G>A c.1265G>A (p.Gly422Glu) c.593G>A (p.Gly198Glu) | |
| 8 | g.43193836G>C | CA371119978 | HGSNAT | c.1457G>C (p.Gly486Ala) n.390G>C c.608G>C (p.Gly203Ala) c.561G>C c.1265G>C (p.Gly422Ala) c.593G>C (p.Gly198Ala) | gnomAD v4 |
| 8 | g.43193836G= | CA1779760603 | HGSNAT | c.1457G= (p.Gly486=) n.390G= c.608G= (p.Gly203=) c.561G= c.1265G= (p.Gly422=) c.593G= (p.Gly198=) | |
| 8 | g.43193836G>T | CA371119977 | HGSNAT | c.1457G>T (p.Gly486Val) n.390G>T c.608G>T (p.Gly203Val) c.561G>T c.1265G>T (p.Gly422Val) c.593G>T (p.Gly198Val) | ClinVar dbSNP |
| 8 | g.43193837A= | CA1779760604 | HGSNAT | c.1458A= (p.Gly486=) n.391A= c.609A= (p.Gly203=) c.562A= c.1266A= (p.Gly422=) c.594A= (p.Gly198=) | |
| 8 | g.43193837A>C | CA460579359 | HGSNAT | c.1458A>C (p.Gly486=) n.391A>C c.609A>C (p.Gly203=) c.562A>C c.1266A>C (p.Gly422=) c.594A>C (p.Gly198=) |