| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.32850997T>G | CA363592956 | PSMB9,TAP1 | c.*149A>C (n.*149A>C) c.845-480A>C (n.845-480A>C) c.997A>C (p.Ile333Leu) c.141+2499A>C (n.141+2499A>C) n.433A>C n.592A>C c.1177A>C (p.Ile393Leu) c.-9-5141T>G (n.-9-5141T>G) c.394A>C (p.Ile132Leu) | dbSNP |
| 6 | g.32850997T>C | CA123403 | PSMB9,TAP1 | c.*149A>G (n.*149A>G) c.845-480A>G (n.845-480A>G) c.997A>G (p.Ile333Val) c.141+2499A>G (n.141+2499A>G) n.433A>G n.592A>G c.1177A>G (p.Ile393Val) c.-9-5141T>C (n.-9-5141T>C) c.394A>G (p.Ile132Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |