| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.23321504G>C | CA254158 | BCL2L2-PABPN1,PABPN1 | c.35G>C (p.Gly12Ala) c.529-677G>C (n.529-677G>C) c.433-677G>C (n.433-677G>C) c.550-677G>C (n.550-677G>C) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23321504G= | CA2123399888 | BCL2L2-PABPN1,PABPN1 | c.35G= (p.Gly12=) c.529-677G= (n.529-677G=) c.433-677G= (n.433-677G=) c.550-677G= (n.550-677G=) | dbSNP |