| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.133437895A>G | CA117757 | ADAMTS13 | c.1582A>G (p.Arg528Gly) c.1489A>G (p.Arg497Gly) c.838A>G (p.Arg280Gly) c.*386A>G (n.*386A>G) n.974-1471A>G c.*866A>G (n.*866A>G) n.993-1471A>G c.1192A>G (p.Arg398Gly) c.598A>G (p.Arg200Gly) c.592A>G (p.Arg198Gly) c.247A>G (p.Arg83Gly) c.368A>G (p.Gln123Arg) c.687-6968A>G (n.687-6968A>G) c.1570A>G (p.Arg524Gly) n.2807A>G n.995-1471A>G | ClinVar dbSNP gnomAD v4 |
| 9 | g.133437895A>C | CA1882673641 | ADAMTS13 | c.1582A>C (p.Arg528=) c.1489A>C (p.Arg497=) c.838A>C (p.Arg280=) c.*386A>C (n.*386A>C) n.974-1471A>C c.*866A>C (n.*866A>C) n.993-1471A>C c.1192A>C (p.Arg398=) c.598A>C (p.Arg200=) c.592A>C (p.Arg198=) c.247A>C (p.Arg83=) c.368A>C (p.Gln123Pro) c.687-6968A>C (n.687-6968A>C) c.1570A>C (p.Arg524=) n.2807A>C n.995-1471A>C | dbSNP |