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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 RPGRIP1 Q96KN7 p.Ala19Gly rs182920176 variant of unknown significance
Detail
(-)
(-)
N
2 RPGRIP1 Q96KN7 p.Ala26Val rs187598648 variant of unknown significance
Detail
(-)
(-)
N
3 RPGRIP1 Q96KN7 p.Met32Leu - variant of unknown significance
Detail
0.67 (T)
(-)
N
4 RPGRIP1 Q96KN7 p.Pro36Leu rs189509077 variant of unknown significance
Detail
(-)
(-)
N
5 RPGRIP1 Q96KN7 p.Arg86Trp rs138785830 variant of unknown significance
Detail
0.01 (D)
0.958 (D)
N
6 RPGRIP1 Q96KN7 p.Pro96Gln rs1040904 variant of unknown significance
Detail
0.53 (T)
0 (N)
N
7 RPGRIP1 Q96KN7 p.Ser135Arg - variant of unknown significance
Detail
0.58 (T)
(-)
N
8 RPGRIP1 Q96KN7 p.Arg148Lys rs11628996 variant of unknown significance
Detail
0.70 (T)
0.144 (N)
N
9 RPGRIP1 Q96KN7 p.Ala181Gly rs186266220 variant of unknown significance
Detail
(-)
(-)
N
10 RPGRIP1 Q96KN7 p.Lys192Glu rs6571751 variant of unknown significance
Detail
1.00 (T)
0 (N)
N
11 RPGRIP1 Q96KN7 p.Ser432Phe rs190985984 variant of unknown significance
Detail
(-)
(-)
N
12 RPGRIP1 Q96KN7 p.Lys451Asn rs192566786 variant of unknown significance
Detail
(-)
(-)
N
13 RPGRIP1 Q96KN7 p.Ala547Ser rs10151259 Cone-rod dystrophy type 13 (CORD13) [MIM:608194]
Detail
0.41 (T)
0.999 (D)
N
14 RPGRIP1 Q96KN7 p.Arg563Gln rs145055116 variant of unknown significance
Detail
1.00 (T)
0.003 (N)
N
15 RPGRIP1 Q96KN7 p.Asn569Lys rs61751273 variant of unknown significance
Detail
0.90 (T)
0.822 (D)
N
16 RPGRIP1 Q96KN7 p.Pro585Ser rs147586703 variant of unknown significance
Detail
0.78 (T)
0.987 (D)
N
17 RPGRIP1 Q96KN7 p.Gln589His rs34067949 variant of unknown significance
Detail
0.14 (T)
0.995 (D)
N
18 RPGRIP1 Q96KN7 p.Arg598Gln rs74034910 variant of unknown significance
Detail
0.36 (T)
0.995 (D)
N
19 RPGRIP1 Q96KN7 p.Ser601Trp rs3748360 variant of unknown significance
Detail
0.02 (D)
0.998 (D)
N
20 RPGRIP1 Q96KN7 p.Ser601Leu rs3748360 variant of unknown significance
Detail
0.28 (T)
0.911 (D)
N
21 RPGRIP1 Q96KN7 p.Cys603Ser - variant of unknown significance
Detail
0.72 (T)
(-)
N
22 RPGRIP1 Q96KN7 p.Thr638Ile - variant of unknown significance
Detail
0.03 (D)
(-)
N
23 RPGRIP1 Q96KN7 p.Thr686Ile rs111288670 variant of unknown significance
Detail
0.32 (T)
0.008 (N)
N
24 RPGRIP1 Q96KN7 p.Gly746Glu rs61751268 Leber congenital amaurosis type 6 (LCA6) [MIM:613826]
Detail
0.01 (D)
1 (D)
N
25 RPGRIP1 Q96KN7 p.Asn766Ser rs183607403 variant of unknown significance
Detail
(-)
(-)
N
26 RPGRIP1 Q96KN7 p.Ile803Phe rs148331694 variant of unknown significance
Detail
0.01 (D)
0.255 (N)
N
27 RPGRIP1 Q96KN7 p.Thr806Ile rs142796310 variant of unknown significance
Detail
0.20 (T)
0 (N)
N
28 RPGRIP1 Q96KN7 p.Arg812Gln rs190490019 variant of unknown significance
Detail
(-)
(-)
N
29 RPGRIP1 Q96KN7 p.Arg814Leu - variant of unknown significance
Detail
0.26 (T)
(-)
N
30 RPGRIP1 Q96KN7 p.Arg827Leu rs28937883 Cone-rod dystrophy type 13 (CORD13) [MIM:608194]
Detail
0.36 (T)
0.992 (D)
N
31 RPGRIP1 Q96KN7 p.Ala841Thr - variant of unknown significance
Detail
0.41 (T)
(-)
N
32 RPGRIP1 Q96KN7 p.Arg852Gln rs181758389 variant of unknown significance
Detail
0.59 (T)
(-)
N
33 RPGRIP1 Q96KN7 p.Arg867Trp rs186803989 variant of unknown significance
Detail
(-)
(-)
N
34 RPGRIP1 Q96KN7 p.Ala869Val rs181222325 variant of unknown significance
Detail
(-)
(-)
N
35 RPGRIP1 Q96KN7 p.Asp876Gly rs61751274 variant of unknown significance
Detail
0.01 (D)
0.999 (D)
N
36 RPGRIP1 Q96KN7 p.Gly883Asp - variant of unknown significance
Detail
0.91 (T)
(-)
N
37 RPGRIP1 Q96KN7 p.Ala889Thr rs184926375 variant of unknown significance
Detail
(-)
(-)
N
38 RPGRIP1 Q96KN7 p.Ala960Pro rs35810926 variant of unknown significance
Detail
0.20 (T)
0 (N)
N
39 RPGRIP1 Q96KN7 p.Glu1033Gln rs3748361 variant of unknown significance
Detail
0.36 (T)
(-)
N
40 RPGRIP1 Q96KN7 p.Asp1114Gly rs17103671 Leber congenital amaurosis type 6 (LCA6) [MIM:613826]
Detail
0.37 (T)
0 (N)
N
41 RPGRIP1 Q96KN7 p.Cys1119Tyr rs183595530 variant of unknown significance
Detail
(-)
(-)
N
42 RPGRIP1 Q96KN7 p.Asp1150Asn rs144704092 variant of unknown significance
Detail
0.62 (T)
1 (D)
N
43 RPGRIP1 Q96KN7 p.Ser1154Trp rs188312873 variant of unknown significance
Detail
(-)
(-)
N
44 RPGRIP1 Q96KN7 p.Arg1190Met rs183313318 variant of unknown significance
Detail
(-)
(-)
N
45 RPGRIP1 Q96KN7 p.Arg1191Trp rs188660364 variant of unknown significance
Detail
(-)
(-)
N
46 RPGRIP1 Q96KN7 p.Gly1240Glu rs34725281 variant of unknown significance
Detail
0.92 (T)
0.955 (D)
N