| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.47800486C>A | CA346754259 | FBXO11,MSH6 | c.2206C>A (p.Gln736Lys) c.2503C>A (p.Gln835Lys) n.2587C>A c.1606+897C>A (n.1606+897C>A) c.2509C>A (p.Gln837Lys) c.628-2934C>A (n.628-2934C>A) c.1660C>A (p.Gln554Lys) c.2113C>A (p.Gln705Lys) c.169+7709G>T (n.169+7709G>T) c.*124+7508G>T (n.*124+7508G>T) c.*1850C>A (n.*1850C>A) c.1597C>A (p.Gln533Lys) c.2500C>A (p.Gln834Lys) c.-594C>A (n.-594C>A) c.2320C>A (p.Gln774Lys) | dbSNP gnomAD v4 |
| 2 | g.47800486C>G | CA10578107 | FBXO11,MSH6 | c.2206C>G (p.Gln736Glu) c.2503C>G (p.Gln835Glu) n.2587C>G c.1606+897C>G (n.1606+897C>G) c.2509C>G (p.Gln837Glu) c.628-2934C>G (n.628-2934C>G) c.1660C>G (p.Gln554Glu) c.2113C>G (p.Gln705Glu) c.169+7709G>C (n.169+7709G>C) c.*124+7508G>C (n.*124+7508G>C) c.*1850C>G (n.*1850C>G) c.1597C>G (p.Gln533Glu) c.2500C>G (p.Gln834Glu) c.-594C>G (n.-594C>G) c.2320C>G (p.Gln774Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.47800486C>T | CA010314 | FBXO11,MSH6 | c.2206C>T (p.Gln736Ter) c.2503C>T (p.Gln835Ter) n.2587C>T c.1606+897C>T (n.1606+897C>T) c.2509C>T (p.Gln837Ter) c.628-2934C>T (n.628-2934C>T) c.1660C>T (p.Gln554Ter) c.2113C>T (p.Gln705Ter) c.169+7709G>A (n.169+7709G>A) c.*124+7508G>A (n.*124+7508G>A) c.*1850C>T (n.*1850C>T) c.1597C>T (p.Gln533Ter) c.2500C>T (p.Gln834Ter) c.-594C>T (n.-594C>T) c.2320C>T (p.Gln774Ter) | ClinVar dbSNP gnomAD v4 |