| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.123704545del | CA279556 | TCTN2 | c.1626del (p.Asp543IlefsTer11) c.1623del (p.Asp542IlefsTer11) n.727del c.1744del (p.Ter582AspextTer?) c.1491del (p.Asp498IlefsTer11) n.2398del c.714del (p.Asp239IlefsTer11) c.1488del (p.Asp497IlefsTer11) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.123704545T= | CA2068983465 | TCTN2 | c.1626T= (p.Pro542=) c.1623T= (p.Pro541=) n.727T= c.1744T= (p.Ter582=) c.1491T= (p.Pro497=) n.2398T= c.714T= (p.Pro238=) c.1488T= (p.Pro496=) | dbSNP dbSNP |