Variants selected for the study
Gene | Sequence variant | Amino acid change |
---|---|---|
NM_004985.4:c.34G>T | NP_004976.2:p.Gly12Cys | |
NM_005228.4:c.2236_2250del | NP_005219.2:p.Glu746_Ala750del | |
NM_005228.4:c.2369C>T | NP_005219.2:p.Thr790Met | |
NM_004333.5:c.1799T>A | NP_004324.2:p.Val600Glu |