| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.93861537A>T | CA702501658 | GPC6 | c.711+30992A>T (n.711+30992A>T) c.501+30992A>T (n.501+30992A>T) c.345+30992A>T (n.345+30992A>T) | dbSNP |
| 13 | g.93861537A>G | CA13865673 | GPC6 | c.711+30992A>G (n.711+30992A>G) c.501+30992A>G (n.501+30992A>G) c.345+30992A>G (n.345+30992A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |