| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.109237224T>G | CA481865046 | ACACB | c.4506T>G (p.Leu1502=) c.504T>G (p.Leu168=) c.505T>G c.3900T>G (p.Leu1300=) c.4317T>G (p.Leu1439=) c.3879T>G (p.Leu1293=) n.5253T>G n.5254T>G c.3711T>G (p.Leu1237=) n.5264T>G n.4151T>G | dbSNP |
| 12 | g.109237224T>A | CA6774429 | ACACB | c.4506T>A (p.Leu1502=) c.504T>A (p.Leu168=) c.505T>A c.3900T>A (p.Leu1300=) c.4317T>A (p.Leu1439=) c.3879T>A (p.Leu1293=) n.5253T>A n.5254T>A c.3711T>A (p.Leu1237=) n.5264T>A n.4151T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.109237224T>C | CA6774428 | ACACB | c.4506T>C (p.Leu1502=) c.504T>C (p.Leu168=) c.505T>C c.3900T>C (p.Leu1300=) c.4317T>C (p.Leu1439=) c.3879T>C (p.Leu1293=) n.5253T>C n.5254T>C c.3711T>C (p.Leu1237=) n.5264T>C n.4151T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |