| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.20158817G>A | CA4175354 | MACC1 | c.1544C>T (p.Ser515Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.20158817G>T | CA366916949 | MACC1 | c.1544C>A (p.Ser515Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.20158817G>C | CA366916947 | MACC1 | c.1544C>G (p.Ser515Trp) | dbSNP gnomAD v4 |