| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.67490439A>G | CA344179 | AIP | c.746A>G c.580A>G (p.Ile194Val) n.1281A>G c.469-558A>G (n.469-558A>G) c.400A>G (p.Ile134Val) c.769A>G (p.Ile257Val) c.592A>G (p.Ile198Val) c.589A>G (p.Ile197Val) c.421A>G (p.Ile141Val) | ClinVar dbSNP gnomAD v4 |
| 11 | g.67490439A>C | CA381551919 | AIP | c.746A>C c.580A>C (p.Ile194Leu) n.1281A>C c.469-558A>C (n.469-558A>C) c.400A>C (p.Ile134Leu) c.769A>C (p.Ile257Leu) c.592A>C (p.Ile198Leu) c.589A>C (p.Ile197Leu) c.421A>C (p.Ile141Leu) | dbSNP gnomAD v4 |
| 11 | g.67490439A= | CA1980172463 | AIP | c.746A= c.580A= (p.Ile194=) n.1281A= c.469-558A= (n.469-558A=) c.400A= (p.Ile134=) c.769A= (p.Ile257=) c.592A= (p.Ile198=) c.589A= (p.Ile197=) c.421A= (p.Ile141=) | dbSNP |