| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.123671316del | CA279400 | TCTN2 | c.76del (p.Asp26ThrfsTer27) c.76del (p.Asp26ThrfsTer9) c.-707del (n.-707del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.123671316dup | CA279354 | TCTN2 | c.76dup (p.Asp26GlyfsTer?) c.-707dup (n.-707dup) | ClinVar dbSNP |
| 12 | g.123671313_123671316dup | CA2621687079 | TCTN2 | c.73_76dup (p.Asp26GlyfsTer?) c.-710_-707dup (n.-710_-707dup) | dbSNP gnomAD v4 |
| 12 | g.123671315_123671316dup | CA2621687070 | TCTN2 | c.75_76dup (p.Asp26GlyfsTer28) c.75_76dup (p.Asp26GlyfsTer10) c.-708_-707dup (n.-708_-707dup) | dbSNP gnomAD v4 |