| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.17192965T>A | CA306057898 | MYO9B | c.3031T>A (p.Ser1011Thr) c.3121T>A (p.Ser1041Thr) c.2917T>A (p.Ser973Thr) n.3275T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.17192965T>C | CA404681561 | MYO9B | c.3031T>C (p.Ser1011Pro) c.3121T>C (p.Ser1041Pro) c.2917T>C (p.Ser973Pro) n.3275T>C | dbSNP |
| 19 | g.17192965T>G | CA9287768 | MYO9B | c.3031T>G (p.Ser1011Ala) c.3121T>G (p.Ser1041Ala) c.2917T>G (p.Ser973Ala) n.3275T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |