Author response table 1.
VarID_GRCh37 | RsID | Mutation | gnomAD | CADD | GERP | #Cases |
---|---|---|---|---|---|---|
1:103377744:C:T | rs151249006 | NM_080629.2:c.G4093A:p.A1365T | 6.37E-05 | 25.8 | 5.42 | 1 |
1:103381192:C:A | rs150669855 | NM_080629.2:c.G3847T:p.V1283L | 0.0007 | 0.001 | -10.9 | 4 |
1:103405909:C:T | rs370589018 | NM_080629.2:c.G3394A:p.G1132S | 6.37E-05 | 25.2 | 5.46 | 1 |