| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41717515C>G | CA9463659 | CEACAM5 | c.1019C>G (p.Ala340Gly) c.1016C>G (p.Ala339Gly) c.64+8720C>G (n.64+8720C>G) c.466C>G c.325-2415C>G c.424+7476C>G (n.424+7476C>G) c.485C>G (p.Ala162Gly) c.612+2357C>G (n.612+2357C>G) c.704-613C>G (n.704-613C>G) c.764C>G (p.Ala255Gly) | dbSNP ExAC gnomAD v2 |
| 19 | g.41717515C>A | CA9463658 | CEACAM5 | c.1019C>A (p.Ala340Asp) c.1016C>A (p.Ala339Asp) c.64+8720C>A (n.64+8720C>A) c.466C>A c.325-2415C>A c.424+7476C>A (n.424+7476C>A) c.485C>A (p.Ala162Asp) c.612+2357C>A (n.612+2357C>A) c.704-613C>A (n.704-613C>A) c.764C>A (p.Ala255Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |