| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.15192188G>A | CA404533997 | NOTCH3 | c.451C>T (p.Gln151Ter) c.448C>T (p.Gln150Ter) | dbSNP |
| 19 | g.15192188G>C | CA345458 | NOTCH3 | c.451C>G (p.Gln151Glu) c.448C>G (p.Gln150Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.15192188G>T | CA404534001 | NOTCH3 | c.451C>A (p.Gln151Lys) c.448C>A (p.Gln150Lys) | dbSNP |
| 19 | g.15192188G= | CA2324750036 | NOTCH3 | c.451C= (p.Gln151=) c.448C= (p.Gln150=) | dbSNP |