| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.76303816C>A | CA456330457 | HSPB1 | c.379C>A (p.Arg127=) c.374C>A (p.Ala125Glu) c.365-168C>A (n.365-168C>A) c.*35C>A (n.*35C>A) c.378C>A (p.Ser126Arg) n.612C>A c.414C>A (p.Ser138Arg) n.95C>A c.409C>A (p.Arg137=) c.-126C>A (n.-126C>A) c.*543C>A (n.*543C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.76303816C>T | CA118822 | HSPB1 | c.379C>T (p.Arg127Trp) c.374C>T (p.Ala125Val) c.365-168C>T (n.365-168C>T) c.*35C>T (n.*35C>T) c.378C>T (p.Ser126=) n.612C>T c.414C>T (p.Ser138=) n.95C>T c.409C>T (p.Arg137Trp) c.-126C>T (n.-126C>T) c.*543C>T (n.*543C>T) | ClinVar dbSNP |