| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.32222613T>G | CA3740275 | NOTCH4 | c.349A>C (p.Lys117Gln) n.478A>C n.488A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.32222613T>A | CA363558708 | NOTCH4 | c.349A>T (p.Lys117Ter) n.478A>T n.488A>T | dbSNP |
| 6 | g.32222613T= | CA1619473564 | NOTCH4 | c.349A= (p.Lys117=) n.478A= n.488A= | dbSNP |
| 6 | g.32222613T>C | CA363558709 | NOTCH4 | c.349A>G (p.Lys117Glu) n.478A>G n.488A>G | dbSNP |