| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.105149311C>G | CA7385943 | JAG2 | c.1612G>C (p.Asp538His) c.1498G>C (p.Asp500His) n.1673G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.105149311C>A | CA391271180 | JAG2 | c.1612G>T (p.Asp538Tyr) c.1498G>T (p.Asp500Tyr) n.1673G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.105149311C>T | CA7385942 | JAG2 | c.1612G>A (p.Asp538Asn) c.1498G>A (p.Asp500Asn) n.1673G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |