| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2087897C>G | CA394311261 | TSC2 | c.*3373C>G (n.*3373C>G) c.4871C>G (p.Pro1624Arg) c.5021C>G (p.Pro1674Arg) c.*5537C>G (n.*5537C>G) c.*7773C>G (n.*7773C>G) c.5024C>G (p.Pro1675Arg) c.4955C>G (p.Pro1652Arg) c.4823C>G (p.Pro1608Arg) c.4856C>G (p.Pro1619Arg) c.1247C>G n.2906C>G c.3678C>G c.4895C>G (p.Pro1632Arg) n.621C>G c.4826C>G (p.Pro1609Arg) c.4892C>G (p.Pro1631Arg) c.4817C>G (p.Pro1606Arg) n.1038C>G n.2672C>G c.4949C>G (p.Pro1650Arg) n.506C>G c.4820C>G (p.Pro1607Arg) c.4945C>G n.3108C>G c.5018C>G (p.Pro1673Arg) n.3839C>G n.2276C>G n.2247C>G n.2137C>G c.4679C>G (p.Pro1560Arg) c.*4191C>G (n.*4191C>G) c.4715C>G (p.Pro1572Arg) n.2747C>G c.1206C>G n.2139C>G c.5078C>G (p.Pro1693Arg) c.5075C>G (p.Pro1692Arg) c.4967C>G (p.Pro1656Arg) c.4946C>G (p.Pro1649Arg) c.4292C>G (p.Pro1431Arg) c.5240C>G (p.Pro1747Arg) c.4988C>G (p.Pro1663Arg) c.3734C>G (p.Pro1245Arg) | ClinVar dbSNP |
| 16 | g.2087897C>T | CA021526 | TSC2 | c.*3373C>T (n.*3373C>T) c.4871C>T (p.Pro1624Leu) c.5021C>T (p.Pro1674Leu) c.*5537C>T (n.*5537C>T) c.*7773C>T (n.*7773C>T) c.5024C>T (p.Pro1675Leu) c.4955C>T (p.Pro1652Leu) c.4823C>T (p.Pro1608Leu) c.4856C>T (p.Pro1619Leu) c.1247C>T n.2906C>T c.3678C>T c.4895C>T (p.Pro1632Leu) n.621C>T c.4826C>T (p.Pro1609Leu) c.4892C>T (p.Pro1631Leu) c.4817C>T (p.Pro1606Leu) n.1038C>T n.2672C>T c.4949C>T (p.Pro1650Leu) n.506C>T c.4820C>T (p.Pro1607Leu) c.4945C>T n.3108C>T c.5018C>T (p.Pro1673Leu) n.3839C>T n.2276C>T n.2247C>T n.2137C>T c.4679C>T (p.Pro1560Leu) c.*4191C>T (n.*4191C>T) c.4715C>T (p.Pro1572Leu) n.2747C>T c.1206C>T n.2139C>T c.5078C>T (p.Pro1693Leu) c.5075C>T (p.Pro1692Leu) c.4967C>T (p.Pro1656Leu) c.4946C>T (p.Pro1649Leu) c.4292C>T (p.Pro1431Leu) c.5240C>T (p.Pro1747Leu) c.4988C>T (p.Pro1663Leu) c.3734C>T (p.Pro1245Leu) | ClinVar dbSNP COSMIC |
| 16 | g.2087897C>A | CA394311256 | TSC2 | c.*3373C>A (n.*3373C>A) c.4871C>A (p.Pro1624Gln) c.5021C>A (p.Pro1674Gln) c.*5537C>A (n.*5537C>A) c.*7773C>A (n.*7773C>A) c.5024C>A (p.Pro1675Gln) c.4955C>A (p.Pro1652Gln) c.4823C>A (p.Pro1608Gln) c.4856C>A (p.Pro1619Gln) c.1247C>A n.2906C>A c.3678C>A c.4895C>A (p.Pro1632Gln) n.621C>A c.4826C>A (p.Pro1609Gln) c.4892C>A (p.Pro1631Gln) c.4817C>A (p.Pro1606Gln) n.1038C>A n.2672C>A c.4949C>A (p.Pro1650Gln) n.506C>A c.4820C>A (p.Pro1607Gln) c.4945C>A n.3108C>A c.5018C>A (p.Pro1673Gln) n.3839C>A n.2276C>A n.2247C>A n.2137C>A c.4679C>A (p.Pro1560Gln) c.*4191C>A (n.*4191C>A) c.4715C>A (p.Pro1572Gln) n.2747C>A c.1206C>A n.2139C>A c.5078C>A (p.Pro1693Gln) c.5075C>A (p.Pro1692Gln) c.4967C>A (p.Pro1656Gln) c.4946C>A (p.Pro1649Gln) c.4292C>A (p.Pro1431Gln) c.5240C>A (p.Pro1747Gln) c.4988C>A (p.Pro1663Gln) c.3734C>A (p.Pro1245Gln) | ClinVar dbSNP |
| 16 | g.2087897C= | CA2202029183 | TSC2 | c.*3373C= (n.*3373C=) c.4871C= (p.Pro1624=) c.5021C= (p.Pro1674=) c.*5537C= (n.*5537C=) c.*7773C= (n.*7773C=) c.5024C= (p.Pro1675=) c.4955C= (p.Pro1652=) c.4823C= (p.Pro1608=) c.4856C= (p.Pro1619=) c.1247C= n.2906C= c.3678C= c.4895C= (p.Pro1632=) n.621C= c.4826C= (p.Pro1609=) c.4892C= (p.Pro1631=) c.4817C= (p.Pro1606=) n.1038C= n.2672C= c.4949C= (p.Pro1650=) n.506C= c.4820C= (p.Pro1607=) c.4945C= n.3108C= c.5018C= (p.Pro1673=) n.3839C= n.2276C= n.2247C= n.2137C= c.4679C= (p.Pro1560=) c.*4191C= (n.*4191C=) c.4715C= (p.Pro1572=) n.2747C= c.1206C= n.2139C= c.5078C= (p.Pro1693=) c.5075C= (p.Pro1692=) c.4967C= (p.Pro1656=) c.4946C= (p.Pro1649=) c.4292C= (p.Pro1431=) c.5240C= (p.Pro1747=) c.4988C= (p.Pro1663=) c.3734C= (p.Pro1245=) | dbSNP |