| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50722398del | CA10603397 | SHANK3 | c.4166del (p.Leu1389ArgfsTer?) n.4750del c.3218del (p.Leu1073ArgfsTer?) c.2708del (p.Leu903ArgfsTer?) c.*3164del (n.*3164del) c.4562del (p.Leu1521ArgfsTer22) c.4544del (p.Leu1515ArgfsTer22) | ClinVar dbSNP |
| 22 | g.50722398T= | CA3244249716 | SHANK3 | c.4166T= (p.Leu1389=) n.4750T= c.3218T= (p.Leu1073=) c.2708T= (p.Leu903=) c.*3164T= (n.*3164T=) c.4562T= (p.Leu1521=) c.4544T= (p.Leu1515=) | dbSNP dbSNP |