| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.133454548C>T | CA220022 | ADAMTS13 | c.3178C>T (p.Arg1060Trp) c.3085C>T (p.Arg1029Trp) c.*647C>T (n.*647C>T) n.1994C>T n.2013C>T c.2788C>T (p.Arg930Trp) c.2194C>T (p.Arg732Trp) c.2188C>T (p.Arg730Trp) c.1843C>T (p.Arg615Trp) c.1444C>T (p.Arg482Trp) c.3166C>T (p.Arg1056Trp) n.2015C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133454548C>A | CA200943192 | ADAMTS13 | c.3178C>A (p.Arg1060=) c.3085C>A (p.Arg1029=) c.*647C>A (n.*647C>A) n.1994C>A n.2013C>A c.2788C>A (p.Arg930=) c.2194C>A (p.Arg732=) c.2188C>A (p.Arg730=) c.1843C>A (p.Arg615=) c.1444C>A (p.Arg482=) c.3166C>A (p.Arg1056=) n.2015C>A | dbSNP gnomAD v4 |