| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.93239636G>C | CA958978108 | GPC6 | c.160+12020G>C (n.160+12020G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.93239636G>A | CA2111176035 | GPC6 | c.160+12020G>A (n.160+12020G>A) | dbSNP |
| 13 | g.93239636G>T | CA13819648 | GPC6 | c.160+12020G>T (n.160+12020G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |