| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.119372265A>C | CA348347390 | DBI | c.211A>C (p.Met71Leu) c.262A>C (p.Met88Leu) c.214A>C (p.Met72Leu) n.585A>C n.607A>C c.241A>C (p.Met81Leu) c.379A>C (p.Met127Leu) c.337A>C (p.Met113Leu) c.394A>C (p.Met132Leu) c.139A>C (p.Met47Leu) n.618A>C | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.119372265A>G | CA1847363 | DBI | c.211A>G (p.Met71Val) c.262A>G (p.Met88Val) c.214A>G (p.Met72Val) n.585A>G n.607A>G c.241A>G (p.Met81Val) c.379A>G (p.Met127Val) c.337A>G (p.Met113Val) c.394A>G (p.Met132Val) c.139A>G (p.Met47Val) n.618A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.119372265A= | CA1283058717 | DBI | c.211A= (p.Met71=) c.262A= (p.Met88=) c.214A= (p.Met72=) n.585A= n.607A= c.241A= (p.Met81=) c.379A= (p.Met127=) c.337A= (p.Met113=) c.394A= (p.Met132=) c.139A= (p.Met47=) n.618A= | dbSNP |