| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.180993146A>C | CA1210909164 | STX6 | c.363+217T>G (n.363+217T>G) c.60+217T>G (n.60+217T>G) | dbSNP |
| 1 | g.180993146A>G | CA33797228 | STX6 | c.363+217T>C (n.363+217T>C) c.60+217T>C (n.60+217T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.180993146A= | CA1139872266 | STX6 | c.363+217T= (n.363+217T=) c.60+217T= (n.60+217T=) | dbSNP |