| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.139460011T>C | CA11613072 | COPB2-DT,RBP2 | c.252+2101A>G (n.252+2101A>G) n.354+36897T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.139460011T>A | CA1405632256 | COPB2-DT,RBP2 | c.252+2101A>T (n.252+2101A>T) n.354+36897T>A | dbSNP |
| 3 | g.139460011T>G | CA1405632257 | COPB2-DT,RBP2 | c.252+2101A>C (n.252+2101A>C) n.354+36897T>G | dbSNP |