| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.76304007C>T | CA118824 | HSPB1 | c.452C>T (p.Thr151Ile) c.*43C>T (n.*43C>T) c.447C>T (p.His149=) c.388C>T (p.Pro130Ser) c.*108C>T (n.*108C>T) c.431C>T (p.Thr144Ile) c.451C>T (p.Pro151Ser) n.803C>T c.487C>T (p.Pro163Ser) c.*37C>T (n.*37C>T) c.482C>T (p.Thr161Ile) c.-53C>T (n.-53C>T) c.*616C>T (n.*616C>T) | ClinVar dbSNP |
| 7 | g.76304007C>G | CA160901749 | HSPB1 | c.452C>G (p.Thr151Ser) c.*43C>G (n.*43C>G) c.447C>G (p.His149Gln) c.388C>G (p.Pro130Ala) c.*108C>G (n.*108C>G) c.431C>G (p.Thr144Ser) c.451C>G (p.Pro151Ala) n.803C>G c.487C>G (p.Pro163Ala) c.*37C>G (n.*37C>G) c.482C>G (p.Thr161Ser) c.-53C>G (n.-53C>G) c.*616C>G (n.*616C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.76304007C= | CA1718331351 | HSPB1 | c.452C= (p.Thr151=) c.*43C= (n.*43C=) c.447C= (p.His149=) c.388C= (p.Pro130=) c.*108C= (n.*108C=) c.431C= (p.Thr144=) c.451C= (p.Pro151=) n.803C= c.487C= (p.Pro163=) c.*37C= (n.*37C=) c.482C= (p.Thr161=) c.-53C= (n.-53C=) c.*616C= (n.*616C=) | dbSNP |