Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.74630845T>C | CA8169109 | RFWD3 | c.1690A>G (p.Ile564Val) n.324A>G c.1577+1678A>G (n.1577+1678A>G) c.856A>G (p.Ile286Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.74630845T= | CA2232896418 | RFWD3 | c.1690A= (p.Ile564=) n.324A= c.1577+1678A= (n.1577+1678A=) c.856A= (p.Ile286=) | dbSNP |
16 | g.74630845T>G | CA396760246 | RFWD3 | c.1690A>C (p.Ile564Leu) n.324A>C c.1577+1678A>C (n.1577+1678A>C) c.856A>C (p.Ile286Leu) | dbSNP gnomAD v4 |