Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.15192504C>A | CA340883 | NOTCH3 | c.213G>T (p.Trp71Cys) c.210G>T (p.Trp70Cys) | ClinVar dbSNP |
19 | g.15192504C>G | CA404535182 | NOTCH3 | c.213G>C (p.Trp71Cys) c.210G>C (p.Trp70Cys) | ClinVar dbSNP |
19 | g.15192504C= | CA2324750217 | NOTCH3 | c.213G= (p.Trp71=) c.210G= (p.Trp70=) | dbSNP |