| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.31870664T>A | CA363370620 | SLC44A4 | c.976A>T (p.Met326Leu) c.850A>T (p.Met284Leu) c.688+650A>T n.472A>T n.391+148A>T c.748A>T (p.Met250Leu) | dbSNP gnomAD v4 |
| 6 | g.31870664T>C | CA3725527 | SLC44A4 | c.976A>G (p.Met326Val) c.850A>G (p.Met284Val) c.688+650A>G n.472A>G n.391+148A>G c.748A>G (p.Met250Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.31870664T= | CA1619335554 | SLC44A4 | c.976A= (p.Met326=) c.850A= (p.Met284=) c.688+650A= n.472A= n.391+148A= c.748A= (p.Met250=) | dbSNP |