Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.39014838A>T | CA346365197 | SOS1 | c.634T>A (p.Phe212Ile) n.2088T>A n.1874T>A c.1756T>A (p.Phe586Ile) c.1867T>A (p.Phe623Ile) c.1960T>A (p.Phe654Ile) c.1846T>A (p.Phe616Ile) c.1843T>A (p.Phe615Ile) c.1696T>A (p.Phe566Ile) c.802T>A (p.Phe268Ile) | ClinVar dbSNP |
2 | g.39014838A>C | CA185039 | SOS1 | c.634T>G (p.Phe212Val) n.2088T>G n.1874T>G c.1756T>G (p.Phe586Val) c.1867T>G (p.Phe623Val) c.1960T>G (p.Phe654Val) c.1846T>G (p.Phe616Val) c.1843T>G (p.Phe615Val) c.1696T>G (p.Phe566Val) c.802T>G (p.Phe268Val) | ClinVar dbSNP |