| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.136499229C>A | CA375634835 | NOTCH1 | c.5965G>T (p.Asp1989Tyr) c.*1005G>T (n.*1005G>T) n.2446G>T n.2297G>T c.5851G>T (p.Asp1951Tyr) c.5845G>T (p.Asp1949Tyr) c.3562G>T (p.Asp1188Tyr) c.*3365G>T (n.*3365G>T) c.*3574G>T (n.*3574G>T) n.4070G>T c.*5201G>T (n.*5201G>T) c.5266G>T (p.Asp1756Tyr) c.5242G>T (p.Asp1748Tyr) | dbSNP |
| 9 | g.136499229C>G | CA375634832 | NOTCH1 | c.5965G>C (p.Asp1989His) c.*1005G>C (n.*1005G>C) n.2446G>C n.2297G>C c.5851G>C (p.Asp1951His) c.5845G>C (p.Asp1949His) c.3562G>C (p.Asp1188His) c.*3365G>C (n.*3365G>C) c.*3574G>C (n.*3574G>C) n.4070G>C c.*5201G>C (n.*5201G>C) c.5266G>C (p.Asp1756His) c.5242G>C (p.Asp1748His) | ClinVar dbSNP gnomAD v4 |
| 9 | g.136499229C>T | CA345931 | NOTCH1 | c.5965G>A (p.Asp1989Asn) c.*1005G>A (n.*1005G>A) n.2446G>A n.2297G>A c.5851G>A (p.Asp1951Asn) c.5845G>A (p.Asp1949Asn) c.3562G>A (p.Asp1188Asn) c.*3365G>A (n.*3365G>A) c.*3574G>A (n.*3574G>A) n.4070G>A c.*5201G>A (n.*5201G>A) c.5266G>A (p.Asp1756Asn) c.5242G>A (p.Asp1748Asn) | ClinVar dbSNP |