| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.12148964C>T | CA6455316 | BCL2L14,LRP6 | c.3184G>A (p.Val1062Ile) c.*24+9985C>T (n.*24+9985C>T) c.2778G>A c.2731G>A (p.Val911Ile) n.3317G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.12148964C= | CA2016776099 | BCL2L14,LRP6 | c.3184G= (p.Val1062=) c.*24+9985C= (n.*24+9985C=) c.2778G= c.2731G= (p.Val911=) n.3317G= | dbSNP |
| 12 | g.12148964C>G | CA383941221 | BCL2L14,LRP6 | c.3184G>C (p.Val1062Leu) c.*24+9985C>G (n.*24+9985C>G) c.2778G>C c.2731G>C (p.Val911Leu) n.3317G>C | dbSNP gnomAD v4 |