Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.15192182G>A | CA346917 | NOTCH3 | c.457C>T (p.Arg153Cys) c.454C>T (p.Arg152Cys) | ClinVar dbSNP gnomAD v4 |
19 | g.15192182G>C | CA404533965 | NOTCH3 | c.457C>G (p.Arg153Gly) c.454C>G (p.Arg152Gly) | dbSNP |
19 | g.15192182G>T | CA404533967 | NOTCH3 | c.457C>A (p.Arg153Ser) c.454C>A (p.Arg152Ser) | ClinVar dbSNP gnomAD v4 |