| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.68819791A>T | CA193969857 | PIP5K1B | c.-1+1246A>T (n.-1+1246A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.68819791A>C | CA12987484 | PIP5K1B | c.-1+1246A>C (n.-1+1246A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.68819791A= | CA1853951222 | PIP5K1B | c.-1+1246A= (n.-1+1246A=) | dbSNP |