Download [XML] [CSV] [Text]
Gene Protein AA change dbSNP Phenotype Chain Detail
Download [XML] [CSV] [Text]
1 PRKCG P05129 p.His101Tyr rs121918511 Spinocerebellar ataxia type 14 (SCA14) [MIM:605361]
3pfq
A
Detail
0.77 (T)
1 (D)
D ( Predicted by rules : 1 )
3 PRKCG P05129 p.His101Gln rs121918518 SPINOCEREBELLAR ATAXIA 14 [MIM:176980#0008]
3pfq
A
Detail
0.22 (T)
1 (D)
D ( Predicted by rules : 1 2 )
4 PRKCG P05129 p.Thr112Ile rs148207688 variant of unknown significance
3pfq
A
Detail
0.09 (T)
0.999 (D)
N
5 PRKCG P05129 p.Gly118Asp rs121918514 SPINOCEREBELLAR ATAXIA 14 [MIM:176980#0004]
3pfq
A
Detail
0.12 (T)
1 (D)
N
6 PRKCG P05129 p.Ser119Pro rs121918512 Spinocerebellar ataxia type 14 (SCA14) [MIM:605361]
3pfq
A
Detail
0.27 (T)
1 (D)
D ( Predicted by rules : 1 )
3 PRKCG P05129 p.Gln127Arg rs121918515 SPINOCEREBELLAR ATAXIA 14 [MIM:176980#0005]
3pfq
A
Detail
0.39 (T)
0.999 (D)
N
4 PRKCG P05129 p.Gly128Asp rs121918513 Spinocerebellar ataxia type 14 (SCA14) [MIM:605361]
3pfq
A
Detail
0.41 (T)
1 (D)
D ( Predicted by rules : 1 )
3 PRKCG P05129 p.Arg141Cys - variant of unknown significance
3pfq
A
Detail
0.10 (T)
0.999 (D)
N
4 PRKCG P05129 p.Ile173Met rs189397138 variant of unknown significance
3pfq
A
Detail
(-)
(-)
N
5 PRKCG P05129 p.Arg213Gln rs115832790 variant of unknown significance
3pfq
A
Detail
0.41 (T)
0.02 (N)
N
6 PRKCG P05129 p.Glu237Asp rs116236420 variant of unknown significance
3pfq
A
Detail
0.64 (T)
0 (N)
N
7 PRKCG P05129 p.Arg316Gln rs149973611 variant of unknown significance
3pfq
A
Detail
0.65 (T)
0.059 (N)
N
8 PRKCG P05129 p.Pro325Leu rs145197557 variant of unknown significance
3pfq
A
Detail
0.31 (T)
0 (N)
D ( Predicted by rules : 1 )
3 PRKCG P05129 p.Gly340Trp rs79382266 variant of unknown significance
3pfq
A
Detail
0.02 (D)
0.658 (D)
D ( Predicted by rules : 1 )
3 PRKCG P05129 p.Pro343Leu rs149157968 variant of unknown significance
3pfq
A
Detail
0.11 (T)
0 (N)
D ( Predicted by rules : 1 )
3 PRKCG P05129 p.Ser361Gly rs121918517 SPINOCEREBELLAR ATAXIA 14 [MIM:176980#0007]
3pfq
A
Detail
0.01 (D)
1 (D)
N
4 PRKCG P05129 p.His415Gln - variant of unknown significance
3pfq
A
Detail
0.00 (D)
0.02 (N)
D ( Predicted by rules : 1 2 )
4 PRKCG P05129 p.Ala523Asp - variant of unknown significance
3pfq
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 4 5 )
7 PRKCG P05129 p.Phe541Cys rs150080332 variant of unknown significance
3pfq
A
Detail
0.00 (D)
0.999 (D)
N
8 PRKCG P05129 p.Lys576Asn rs79609076 variant of unknown significance
3pfq
A
Detail
0.49 (T)
1 (D)
N
9 PRKCG P05129 p.Arg580Trp rs149266855 variant of unknown significance
3pfq
A
Detail
0.01 (D)
0.999 (D)
D ( Predicted by rules : 1 )
3 PRKCG P05129 p.Arg580Gln rs41275818 variant of unknown significance
3pfq
A
Detail
0.53 (T)
0.939 (D)
N
4 PRKCG P05129 p.Val583Met rs143513754 variant of unknown significance
3pfq
A
Detail
0.28 (T)
0.996 (D)
N
5 PRKCG P05129 p.Glu605Gln rs138962503 variant of unknown significance
3pfq
A
Detail
0.56 (T)
0.721 (D)
N
6 PRKCG P05129 p.Phe643Leu rs121918516 SPINOCEREBELLAR ATAXIA 14 [MIM:176980#0006]
3pfq
A
Detail
0.01 (D)
1 (D)
D ( Predicted by rules : 1 )
3 PRKCG P05129 p.Arg659Ser rs139735546 variant of unknown significance
3pfq
A
Detail
0.82 (T)
0.581 (D)
D ( Predicted by rules : 1 )
3 PRKCG P05129 p.Ser687Gly rs73937614 variant of unknown significance
Detail
0.43 (T)
0.928 (D)
N
4 PRKCG P05129 p.Val692Gly rs78437096 variant of unknown significance
Detail
0.37 (T)
0.019 (N)
N