| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.86706685A>G | CA136478 | LDB3 | n.515-12042A>G c.897-3220A>G (n.897-3220A>G) c.910A>G (p.Thr304Ala) c.1051A>G (p.Thr351Ala) c.756-3220A>G (n.756-3220A>G) c.1101-3220A>G (n.1101-3220A>G) c.1255A>G (p.Thr419Ala) c.721A>G (p.Thr241Ala) c.706A>G (p.Thr236Ala) c.211A>G (p.Thr71Ala) c.57-3220A>G (n.57-3220A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.86706685A= | CA1925627250 | LDB3 | n.515-12042A= c.897-3220A= (n.897-3220A=) c.910A= (p.Thr304=) c.1051A= (p.Thr351=) c.756-3220A= (n.756-3220A=) c.1101-3220A= (n.1101-3220A=) c.1255A= (p.Thr419=) c.721A= (p.Thr241=) c.706A= (p.Thr236=) c.211A= (p.Thr71=) c.57-3220A= (n.57-3220A=) | dbSNP |