| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.10409361A>C | CA398122914 | MYH8,MYHAS | c.1815T>G (p.Asn605Lys) n.167+3123A>C | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.10409361A>G | CA8387972 | MYH8,MYHAS | c.1815T>C (p.Asn605=) n.167+3123A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.10409361A>T | CA8387971 | MYH8,MYHAS | c.1815T>A (p.Asn605Lys) n.167+3123A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |