| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.32896584_32896587del | CA011079 | PKP2 | c.148_151del (p.Thr50SerfsTer28) c.148_151del (p.Thr50SerfsTer?) c.102_105del n.152_155del c.18_21del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.32896584_32896587dup | CA2697559159 | PKP2 | c.148_151dup (p.Val51AspfsTer?) c.102_105dup n.152_155dup c.18_21dup | ClinVar dbSNP |