| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.133436943C>T | CA117779 | ADAMTS13 | c.1423C>T (p.Pro475Ser) c.1330C>T (p.Pro444Ser) c.679C>T (p.Pro227Ser) c.*227C>T (n.*227C>T) n.974-2423C>T c.*707C>T (n.*707C>T) n.993-2423C>T c.1033C>T (p.Pro345Ser) c.439C>T (p.Pro147Ser) c.433C>T (p.Pro145Ser) c.88C>T (p.Pro30Ser) c.209C>T (p.Thr70Ile) c.687-7920C>T (n.687-7920C>T) c.1411C>T (p.Pro471Ser) n.2648C>T n.995-2423C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.133436943C= | CA1882673175 | ADAMTS13 | c.1423C= (p.Pro475=) c.1330C= (p.Pro444=) c.679C= (p.Pro227=) c.*227C= (n.*227C=) n.974-2423C= c.*707C= (n.*707C=) n.993-2423C= c.1033C= (p.Pro345=) c.439C= (p.Pro147=) c.433C= (p.Pro145=) c.88C= (p.Pro30=) c.209C= (p.Thr70=) c.687-7920C= (n.687-7920C=) c.1411C= (p.Pro471=) n.2648C= n.995-2423C= | dbSNP |