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. 2024 Jan 26;12:RP89762. doi: 10.7554/eLife.89762

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