| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.26168726T>G | CA5445186 | MYO3A | n.352T>G c.3126T>G (p.Tyr1042Ter) c.*1121T>G (n.*1121T>G) c.1777-43117T>G (n.1777-43117T>G) c.2763T>G (p.Tyr921Ter) c.1254T>G (p.Tyr418Ter) c.795T>G (p.Tyr265Ter) n.3330T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.26168726T>C | CA468480481 | MYO3A | n.352T>C c.3126T>C (p.Tyr1042=) c.*1121T>C (n.*1121T>C) c.1777-43117T>C (n.1777-43117T>C) c.2763T>C (p.Tyr921=) c.1254T>C (p.Tyr418=) c.795T>C (p.Tyr265=) n.3330T>C | dbSNP gnomAD v4 |
| 10 | g.26168726T= | CA1897911992 | MYO3A | n.352T= c.3126T= (p.Tyr1042=) c.*1121T= (n.*1121T=) c.1777-43117T= (n.1777-43117T=) c.2763T= (p.Tyr921=) c.1254T= (p.Tyr418=) c.795T= (p.Tyr265=) n.3330T= | dbSNP |