| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.14996272A>C | CA848999852 | SGCZ | c.39+241313T>G (n.39+241313T>G) c.-90+241313T>G (n.-90+241313T>G) | dbSNP |
| 8 | g.14996272A>T | CA12715399 | SGCZ | c.39+241313T>A (n.39+241313T>A) c.-90+241313T>A (n.-90+241313T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |