| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.38754065G>A | CA15207196 | GEMIN6 | c.-281+2247G>A (n.-281+2247G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.38754065G>C | CA1246003062 | GEMIN6 | c.-281+2247G>C (n.-281+2247G>C) | dbSNP |
| 2 | g.38754065G>T | CA1246003063 | GEMIN6 | c.-281+2247G>T (n.-281+2247G>T) | dbSNP |