| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.18178849dup | CA16044425 | MYO15A | n.3052dup n.2514dup c.*22dup (n.*22dup) n.3568dup c.10572dup (p.Ser3525GlnfsTer?) n.3055dup n.2098dup c.1025dup c.903dup (n.903dup) c.10566dup (p.Ser3523GlnfsTer?) c.10512dup (p.Ser3505GlnfsTer?) c.10575dup (p.Ser3526GlnfsTer?) | ClinVar dbSNP gnomAD v4 |
| 17 | g.18178849del | CA2636459806 | MYO15A | n.3052del n.2514del c.*22del (n.*22del) n.3568del c.10572del (p.Ser3525AlafsTer29) n.3055del n.2098del c.1025del c.903del (n.903del) c.10566del (p.Ser3523AlafsTer29) c.10512del (p.Ser3505AlafsTer29) c.10575del (p.Ser3526AlafsTer29) | dbSNP gnomAD v4 |