Variant | Mutation | Protein Change | Clinical Data | Segregation | Classification | (PMID) and Databases |
---|---|---|---|---|---|---|
H1146A | Â | p.(His1146Ala) | NA | NA | Damaging | 17,761,849, 18,003,914 |
E1148A | Â | p.(Glu1148Ala) | NA | NA | Damaging | 17,761,849 |
H1060L | c.3197A > T | p.(His1060Leu) | NA | NA | Benign | 24,728,327, ClinVar, dbSNP |
S912N | c.2735G > A | p.(Ser912Asn) | GP | NA | Benign | gnomAD |
T1323A | c.3967A > G | p.(Thr1323Ala) | GP | NA | Benign | gnomAD |
N910S | c.2729A > G | p.(Asn910Ser) | KS a | Inherited | VUS | 27,302,555 |
D980V | c.2939A > T | p.(Asp980Val) | KS | De novo | Pathogenic | 24,633,898, 30,107,592, HGMD |
S1025G | c.3073A > G | p.(Ser1025Gly) | KS | Inherited | Likely Pathogenic | 27,302,555, Clinvar |
C1153R | c.3457 T > C | p.(Cys1153Arg) | KS |  | VUS | ClinVar |
C1153Y | c.3458G > A | p.(Cys1153Tyr) | KS | De novo | Likely Pathogenic | ClinVar |
P1195L | c.3584C > T | p.(Pro1195Leu) | KS | De novo | Likely Pathogenic | ClinVar |
L1200F | c.3598C > T | p.(Leu1200Phe) | KS | Inherited | Likely Pathogenic | ClinVar |
Q1212R | c.3536A > G | p.(Gln1212Arg) | KS | Germline | Likely Pathogenic | ClinVar |
Q1248R | c.3743A > G | p.(Gln1248Arg) | KS | De novo | Pathogenic | 30,107,592 |
R1255W | c.3763A > G | p.(Arg1255Trp) | KS b | De novo | Pathogenic | 27,302,555, ClinVar |
R1351Q | c.4052G > A | p.(Arg1351Gln) | KS |  | VUS | ClinVar |