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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 PHF6 Q8IWS0 p.Met1Thr rs132630300 BORJESON-FORSSMAN-LEHMANN SYNDROME [MIM:300414#0006]
Detail
0.51 (T)
0.067 (N)
N
2 PHF6 Q8IWS0 p.Cys45Tyr rs132630299 Boerjeson-Forssman-Lehmann syndrome (BFLS) [MIM:301900]
Detail
0.00 (D)
1 (D)
N
3 PHF6 Q8IWS0 p.Cys99Phe rs132630298 Boerjeson-Forssman-Lehmann syndrome (BFLS) [MIM:301900]
Detail
0.00 (D)
1 (D)
N
4 PHF6 Q8IWS0 p.Tyr105Cys rs185742554 variant of unknown significance
Detail
(-)
(-)
N
5 PHF6 Q8IWS0 p.Ser183Pro rs185784493 variant of unknown significance
Detail
(-)
(-)
N
6 PHF6 Q8IWS0 p.His229Arg rs104894918 Boerjeson-Forssman-Lehmann syndrome (BFLS) [MIM:301900]
Detail
0.49 (T)
0.959 (D)
N
7 PHF6 Q8IWS0 p.Lys234Glu rs104894917 Boerjeson-Forssman-Lehmann syndrome (BFLS) [MIM:301900]
Detail
1.00 (T)
0.971 (D)
N
8 PHF6 Q8IWS0 p.Lys241Thr rs41299080 variant of unknown significance
Detail
0.45 (T)
0.911 (D)
N
9 PHF6 Q8IWS0 p.Arg257Gly rs104894919 Boerjeson-Forssman-Lehmann syndrome (BFLS) [MIM:301900]
Detail
0.39 (T)
0.996 (D)
N