| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.47800088C>A | CA346750921 | FBXO11,MSH6 | c.1808C>A (p.Ser603Ter) c.2105C>A (p.Ser702Ter) n.2189C>A c.1606+499C>A (n.1606+499C>A) c.2111C>A (p.Ser704Ter) c.628-3332C>A (n.628-3332C>A) c.1262C>A (p.Ser421Ter) c.1715C>A (p.Ser572Ter) c.169+8107G>T (n.169+8107G>T) c.*124+7906G>T (n.*124+7906G>T) c.*1452C>A (n.*1452C>A) c.1199C>A (p.Ser400Ter) c.2102C>A (p.Ser701Ter) c.-992C>A (n.-992C>A) c.1922C>A (p.Ser641Ter) | ClinVar dbSNP gnomAD v4 |
| 2 | g.47800088C>G | CA009686 | FBXO11,MSH6 | c.1808C>G (p.Ser603Ter) c.2105C>G (p.Ser702Ter) n.2189C>G c.1606+499C>G (n.1606+499C>G) c.2111C>G (p.Ser704Ter) c.628-3332C>G (n.628-3332C>G) c.1262C>G (p.Ser421Ter) c.1715C>G (p.Ser572Ter) c.169+8107G>C (n.169+8107G>C) c.*124+7906G>C (n.*124+7906G>C) c.*1452C>G (n.*1452C>G) c.1199C>G (p.Ser400Ter) c.2102C>G (p.Ser701Ter) c.-992C>G (n.-992C>G) c.1922C>G (p.Ser641Ter) | ClinVar dbSNP |
| 2 | g.47800088C>T | CA009694 | FBXO11,MSH6 | c.1808C>T (p.Ser603Leu) c.2105C>T (p.Ser702Leu) n.2189C>T c.1606+499C>T (n.1606+499C>T) c.2111C>T (p.Ser704Leu) c.628-3332C>T (n.628-3332C>T) c.1262C>T (p.Ser421Leu) c.1715C>T (p.Ser572Leu) c.169+8107G>A (n.169+8107G>A) c.*124+7906G>A (n.*124+7906G>A) c.*1452C>T (n.*1452C>T) c.1199C>T (p.Ser400Leu) c.2102C>T (p.Ser701Leu) c.-992C>T (n.-992C>T) c.1922C>T (p.Ser641Leu) | ClinVar dbSNP |