| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.133436865C>G | CA375391554 | ADAMTS13 | c.1345C>G (p.Gln449Glu) c.1252C>G (p.Gln418Glu) c.601C>G (p.Gln201Glu) c.*149C>G (n.*149C>G) n.974-2501C>G c.*629C>G (n.*629C>G) n.993-2501C>G c.955C>G (p.Gln319Glu) c.361C>G (p.Gln121Glu) c.355C>G (p.Gln119Glu) c.10C>G (p.Gln4Glu) c.131C>G (p.Thr44Arg) c.687-7998C>G (n.687-7998C>G) c.1333C>G (p.Gln445Glu) n.2570C>G n.995-2501C>G | dbSNP gnomAD v4 |
| 9 | g.133436865C>T | CA117772 | ADAMTS13 | c.1345C>T (p.Gln449Ter) c.1252C>T (p.Gln418Ter) c.601C>T (p.Gln201Ter) c.*149C>T (n.*149C>T) n.974-2501C>T c.*629C>T (n.*629C>T) n.993-2501C>T c.955C>T (p.Gln319Ter) c.361C>T (p.Gln121Ter) c.355C>T (p.Gln119Ter) c.10C>T (p.Gln4Ter) c.131C>T (p.Thr44Ile) c.687-7998C>T (n.687-7998C>T) c.1333C>T (p.Gln445Ter) n.2570C>T n.995-2501C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133436865C= | CA1882673126 | ADAMTS13 | c.1345C= (p.Gln449=) c.1252C= (p.Gln418=) c.601C= (p.Gln201=) c.*149C= (n.*149C=) n.974-2501C= c.*629C= (n.*629C=) n.993-2501C= c.955C= (p.Gln319=) c.361C= (p.Gln121=) c.355C= (p.Gln119=) c.10C= (p.Gln4=) c.131C= (p.Thr44=) c.687-7998C= (n.687-7998C=) c.1333C= (p.Gln445=) n.2570C= n.995-2501C= | dbSNP |