| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.239082174G>A | CA2199321 | HDAC4 | n.594C>T c.2580C>T (p.Pro860=) c.2565C>T (p.Pro855=) n.472C>T c.2229C>T (p.Pro743=) c.2637C>T (p.Pro879=) c.2499C>T (p.Pro833=) c.2652C>T (p.Pro884=) c.2622C>T (p.Pro874=) c.2583C>T (p.Pro861=) c.2550C>T (p.Pro850=) c.2508C>T (p.Pro836=) c.2436C>T (p.Pro812=) c.1332C>T (p.Pro444=) c.2520C>T (p.Pro840=) c.2064C>T (p.Pro688=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.239082174G>T | CA431978538 | HDAC4 | n.594C>A c.2580C>A (p.Pro860=) c.2565C>A (p.Pro855=) n.472C>A c.2229C>A (p.Pro743=) c.2637C>A (p.Pro879=) c.2499C>A (p.Pro833=) c.2652C>A (p.Pro884=) c.2622C>A (p.Pro874=) c.2583C>A (p.Pro861=) c.2550C>A (p.Pro850=) c.2508C>A (p.Pro836=) c.2436C>A (p.Pro812=) c.1332C>A (p.Pro444=) c.2520C>A (p.Pro840=) c.2064C>A (p.Pro688=) | dbSNP gnomAD v4 |