| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.71164647T>G | CA679889029 | SHANK2 | c.-12-17309A>C (n.-12-17309A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.71164647T>C | CA224345842 | SHANK2 | c.-12-17309A>G (n.-12-17309A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71164647T= | CA1981356242 | SHANK2 | c.-12-17309A= (n.-12-17309A=) | dbSNP |