| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.27772914A>G | CA1240426703 | MRPL33 | c.41+222A>G (n.41+222A>G) n.215+222A>G n.430+222A>G | dbSNP |
| 2 | g.27772914A>C | CA15161550 | MRPL33 | c.41+222A>C (n.41+222A>C) n.215+222A>C n.430+222A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.27772914A>T | CA1240426702 | MRPL33 | c.41+222A>T (n.41+222A>T) n.215+222A>T n.430+222A>T | dbSNP gnomAD v4 |