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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 FOXL2 P58012 p.Glu28Gln rs111967494 variant of unknown significance
Detail
0.57 (T)
(N)
N
2 FOXL2 P58012 p.Ser58Leu - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
1d5v
A
Detail
0.00 (D)
0.979 (D)
D ( Predicted by rules : 1 )
3 FOXL2 P58012 p.Ile63Thr - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
1d5v
A
Detail
0.03 (D)
0.96 (D)
D ( Predicted by rules : 1 )
3 FOXL2 P58012 p.Met65Val - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
1d5v
A
Detail
0.01 (D)
0.929 (D)
D ( Predicted by rules : 1 )
3 FOXL2 P58012 p.Ala66Val - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
1d5v
A
Detail
0.00 (D)
0.999 (D)
N
4 FOXL2 P58012 p.Glu69Lys - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
1d5v
A
Detail
0.59 (T)
0.97 (D)
N
5 FOXL2 P58012 p.Ile80Thr - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
1d5v
A
Detail
0.00 (D)
0.995 (D)
D ( Predicted by rules : 1 )
3 FOXL2 P58012 p.Ile84Ser rs28937884 Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
1d5v
A
Detail
0.00 (D)
0.995 (D)
D ( Predicted by rules : 1 2 )
4 FOXL2 P58012 p.Ile84Asn - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
1d5v
A
Detail
0.00 (D)
0.999 (D)
D ( Predicted by rules : 1 2 )
4 FOXL2 P58012 p.Phe90Ser - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
1d5v
A
Detail
0.00 (D)
0.845 (D)
D ( Predicted by rules : 1 )
3 FOXL2 P58012 p.Trp98Gly - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
1d5v
A
Detail
0.00 (D)
0.999 (D)
D ( Predicted by rules : 1 2 3 )
5 FOXL2 P58012 p.Trp98Arg - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
1d5v
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 FOXL2 P58012 p.Ser101Arg - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
1d5v
A
Detail
0.00 (D)
0.999 (D)
N
6 FOXL2 P58012 p.Ile102Thr - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
1d5v
A
Detail
0.00 (D)
0.995 (D)
D ( Predicted by rules : 1 )
3 FOXL2 P58012 p.Arg103Cys - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
1d5v
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 )
3 FOXL2 P58012 p.His104Arg - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
1d5v
A
Detail
0.00 (D)
0.995 (D)
D ( Predicted by rules : 1 )
3 FOXL2 P58012 p.Asn105Ser - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
1d5v
A
Detail
0.04 (D)
0.996 (D)
D ( Predicted by rules : 1 )
3 FOXL2 P58012 p.Leu106Phe - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
1d5v
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 )
4 FOXL2 P58012 p.Leu106Pro - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
1d5v
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 )
4 FOXL2 P58012 p.Leu108Pro - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
1d5v
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 )
3 FOXL2 P58012 p.Asn109Lys - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
1d5v
A
Detail
0.00 (D)
0.999 (D)
D ( Predicted by rules : 1 )
3 FOXL2 P58012 p.Val115Met rs143464338 variant of unknown significance
1d5v
A
Detail
0.01 (D)
0.999 (D)
N
4 FOXL2 P58012 p.Ala179Gly rs7432551 variant of unknown significance
Detail
0.55 (T)
(N)
N
5 FOXL2 P58012 p.Gly187Asp rs121908359 Premature ovarian failure type 3 (POF3) [MIM:608996]
Detail
0.40 (T)
(N)
N
6 FOXL2 P58012 p.Lys193Arg - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
Detail
0.54 (T)
(N)
N
7 FOXL2 P58012 p.Tyr215Cys - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
Detail
0.17 (T)
(N)
N
8 FOXL2 P58012 p.Ser217Phe - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
Detail
0.63 (T)
(N)
N
9 FOXL2 P58012 p.Ser217Cys - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
Detail
0.19 (T)
(N)
N
10 FOXL2 P58012 p.Pro257Leu rs113777439 variant of unknown significance
Detail
0.64 (T)
(N)
N
11 FOXL2 P58012 p.Tyr258Asn rs28937885 Premature ovarian failure type 3 (POF3) [MIM:608996]
Detail
0.53 (T)
(N)
N
12 FOXL2 P58012 p.Pro285Ser - variant of unknown significance
Detail
0.86 (T)
(N)
N
13 FOXL2 P58012 p.Ala334Pro rs138198451 variant of unknown significance
Detail
0.27 (T)
(N)
N