| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.139185143G>T | CA84449669 | MRPS22 | c.-72+4783G>T (n.-72+4783G>T) c.82+21933G>T (n.82+21933G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.139185143G>A | CA1405511266 | MRPS22 | c.-72+4783G>A (n.-72+4783G>A) c.82+21933G>A (n.82+21933G>A) | dbSNP |
| 3 | g.139185143G= | CA1405511265 | MRPS22 | c.-72+4783G= (n.-72+4783G=) c.82+21933G= (n.82+21933G=) | dbSNP |