17 | g.80118319C>T | CA274250 | GAA | c.2608C>T (p.Arg870Ter) c.*746C>T (n.*746C>T) n.561C>T
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80118319C>A | CA502167637 | GAA | c.2608C>A (p.Arg870=) c.*746C>A (n.*746C>A) n.561C>A
| ClinVar dbSNP gnomAD v3 gnomAD v4 |