| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.15192242G>T | CA9263894 | NOTCH3 | c.397C>A (p.Arg133Ser) c.394C>A (p.Arg132Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.15192242G>A | CA340890 | NOTCH3 | c.397C>T (p.Arg133Cys) c.394C>T (p.Arg132Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.15192242G>C | CA404534256 | NOTCH3 | c.397C>G (p.Arg133Gly) c.394C>G (p.Arg132Gly) | dbSNP |
| 19 | g.15192242G= | CA2324750069 | NOTCH3 | c.397C= (p.Arg133=) c.394C= (p.Arg132=) | dbSNP |