| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.71216711G>A | CA224396301 | SHANK2 | c.-13+7986C>T (n.-13+7986C>T) n.229+7986C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71216711G= | CA1981381178 | SHANK2 | c.-13+7986C= (n.-13+7986C=) n.229+7986C= | dbSNP |
| 11 | g.71216711G>C | CA3182671975 | SHANK2 | c.-13+7986C>G (n.-13+7986C>G) n.229+7986C>G | dbSNP |