| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.67490059C>T | CA344120 | AIP | c.467C>T c.301C>T (p.Gln101Ter) n.1002C>T c.468+604C>T (n.468+604C>T) c.121C>T (p.Gln41Ter) c.490C>T (p.Gln164Ter) c.313C>T (p.Gln105Ter) c.310C>T (p.Gln104Ter) c.142C>T (p.Gln48Ter) | ClinVar dbSNP gnomAD v4 |
| 11 | g.67490059C= | CA1980172275 | AIP | c.467C= c.301C= (p.Gln101=) n.1002C= c.468+604C= (n.468+604C=) c.121C= (p.Gln41=) c.490C= (p.Gln164=) c.313C= (p.Gln105=) c.310C= (p.Gln104=) c.142C= (p.Gln48=) | dbSNP |
| 11 | g.67490059C>G | CA381550365 | AIP | c.467C>G c.301C>G (p.Gln101Glu) n.1002C>G c.468+604C>G (n.468+604C>G) c.121C>G (p.Gln41Glu) c.490C>G (p.Gln164Glu) c.313C>G (p.Gln105Glu) c.310C>G (p.Gln104Glu) c.142C>G (p.Gln48Glu) | dbSNP gnomAD v4 |