| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.77156022T>A | CA278663 | MYO7A | c.401T>A (p.Ile134Asn) c.368T>A (p.Ile123Asn) c.143T>A (p.Ile48Asn) n.721T>A n.723T>A c.491T>A (p.Ile164Asn) n.506T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77156022T>C | CA10604413 | MYO7A | c.401T>C (p.Ile134Thr) c.368T>C (p.Ile123Thr) c.143T>C (p.Ile48Thr) n.721T>C n.723T>C c.491T>C (p.Ile164Thr) n.506T>C | ClinVar dbSNP |
| 11 | g.77156022T= | CA1984094086 | MYO7A | c.401T= (p.Ile134=) c.368T= (p.Ile123=) c.143T= (p.Ile48=) n.721T= n.723T= c.491T= (p.Ile164=) n.506T= | dbSNP |