| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.47799788C>A | CA16610899 | FBXO11,MSH6 | c.1508C>A (p.Ser503Ter) c.1805C>A (p.Ser602Ter) n.1889C>A c.1606+199C>A (n.1606+199C>A) c.1811C>A (p.Ser604Ter) c.628-3632C>A (n.628-3632C>A) c.962C>A (p.Ser321Ter) c.1415C>A (p.Ser472Ter) c.169+8407G>T (n.169+8407G>T) c.*124+8206G>T (n.*124+8206G>T) c.*1152C>A (n.*1152C>A) c.899C>A (p.Ser300Ter) c.1802C>A (p.Ser601Ter) c.-1292C>A (n.-1292C>A) c.1622C>A (p.Ser541Ter) | ClinVar dbSNP |
| 2 | g.47799788C>G | CA009231 | FBXO11,MSH6 | c.1508C>G (p.Ser503Ter) c.1805C>G (p.Ser602Ter) n.1889C>G c.1606+199C>G (n.1606+199C>G) c.1811C>G (p.Ser604Ter) c.628-3632C>G (n.628-3632C>G) c.962C>G (p.Ser321Ter) c.1415C>G (p.Ser472Ter) c.169+8407G>C (n.169+8407G>C) c.*124+8206G>C (n.*124+8206G>C) c.*1152C>G (n.*1152C>G) c.899C>G (p.Ser300Ter) c.1802C>G (p.Ser601Ter) c.-1292C>G (n.-1292C>G) c.1622C>G (p.Ser541Ter) | ClinVar dbSNP |
| 2 | g.47799788C>T | CA346749361 | FBXO11,MSH6 | c.1508C>T (p.Ser503Leu) c.1805C>T (p.Ser602Leu) n.1889C>T c.1606+199C>T (n.1606+199C>T) c.1811C>T (p.Ser604Leu) c.628-3632C>T (n.628-3632C>T) c.962C>T (p.Ser321Leu) c.1415C>T (p.Ser472Leu) c.169+8407G>A (n.169+8407G>A) c.*124+8206G>A (n.*124+8206G>A) c.*1152C>T (n.*1152C>T) c.899C>T (p.Ser300Leu) c.1802C>T (p.Ser601Leu) c.-1292C>T (n.-1292C>T) c.1622C>T (p.Ser541Leu) | ClinVar dbSNP gnomAD v4 |