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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 MCOLN1 Q9GZU1 p.Gly6Cys rs61736595 variant of unknown significance
Detail
0.06 (T)
0.855 (D)
N
2 MCOLN1 Q9GZU1 p.Thr24Asn rs141168886 variant of unknown significance
Detail
0.45 (T)
0.139 (N)
N
3 MCOLN1 Q9GZU1 p.Thr77Met rs138101272 variant of unknown significance
Detail
0.00 (D)
1 (D)
N
4 MCOLN1 Q9GZU1 p.Arg102Gln rs139377969 variant of unknown significance
Detail
0.25 (T)
0.92 (D)
N
5 MCOLN1 Q9GZU1 p.Leu106Pro - Mucolipidosis type IV (MLIV) [MIM:252650]
Detail
0.10 (T)
1 (D)
N
6 MCOLN1 Q9GZU1 p.Ser110Leu rs139939038 variant of unknown significance
Detail
0.12 (T)
0.103 (N)
N
7 MCOLN1 Q9GZU1 p.Arg122Trp rs144305157 variant of unknown significance
Detail
0.19 (T)
0.943 (D)
N
8 MCOLN1 Q9GZU1 p.Ala138Val rs142259322 variant of unknown significance
Detail
0.27 (T)
0.003 (N)
N
9 MCOLN1 Q9GZU1 p.Arg151His rs140148914 variant of unknown significance
Detail
0.12 (T)
0.004 (N)
N
10 MCOLN1 Q9GZU1 p.Pro197Ser rs145706318 variant of unknown significance
Detail
0.78 (T)
0.986 (D)
N
11 MCOLN1 Q9GZU1 p.Tyr218Asn rs141059451 variant of unknown significance
Detail
0.31 (T)
0.034 (N)
N
12 MCOLN1 Q9GZU1 p.Thr232Pro - Mucolipidosis type IV (MLIV) [MIM:252650]
Detail
0.22 (T)
0.947 (D)
N
13 MCOLN1 Q9GZU1 p.Thr232Ser rs78838274 variant of unknown significance
Detail
0.66 (T)
0.017 (N)
N
14 MCOLN1 Q9GZU1 p.Thr239Ile rs150109974 variant of unknown significance
Detail
0.19 (T)
0.956 (D)
N
15 MCOLN1 Q9GZU1 p.Ile240Val rs190389885 variant of unknown significance
Detail
(-)
(-)
N
16 MCOLN1 Q9GZU1 p.Ser257Arg rs113261161 variant of unknown significance
Detail
0.57 (T)
0.001 (N)
N
17 MCOLN1 Q9GZU1 p.Thr261Met rs73003348 variant of unknown significance
Detail
0.23 (T)
0.679 (D)
N
18 MCOLN1 Q9GZU1 p.Pro272Arg rs183077397 variant of unknown significance
Detail
(-)
(-)
N
19 MCOLN1 Q9GZU1 p.His286Asn rs145191057 variant of unknown significance
Detail
0.81 (T)
0 (N)
N
20 MCOLN1 Q9GZU1 p.Val303Met rs187935081 variant of unknown significance
Detail
(-)
(-)
N
21 MCOLN1 Q9GZU1 p.Ala317Thr rs137887342 variant of unknown significance
Detail
0.70 (T)
0.002 (N)
N
22 MCOLN1 Q9GZU1 p.Val331Gly rs148240167 variant of unknown significance
Detail
0.42 (T)
0.004 (N)
N
23 MCOLN1 Q9GZU1 p.Met334Val rs141240937 variant of unknown significance
Detail
0.32 (T)
0 (N)
N
24 MCOLN1 Q9GZU1 p.Met334Ile rs150778171 variant of unknown significance
Detail
0.23 (T)
0.001 (N)
N
25 MCOLN1 Q9GZU1 p.Arg338Trp rs139729140 variant of unknown significance
Detail
0.17 (T)
0.836 (D)
N
26 MCOLN1 Q9GZU1 p.Val341Ile rs149380272 variant of unknown significance
Detail
0.21 (T)
0.015 (N)
N
27 MCOLN1 Q9GZU1 p.Glu349Val rs75644222 variant of unknown significance
Detail
0.06 (T)
0.333 (N)
N
28 MCOLN1 Q9GZU1 p.Glu349Gly rs75644222 variant of unknown significance
Detail
(-)
(-)
N
29 MCOLN1 Q9GZU1 p.Asp362Tyr rs121908372 Mucolipidosis type IV (MLIV) [MIM:252650]
Detail
0.02 (D)
1 (D)
N
30 MCOLN1 Q9GZU1 p.Arg403Cys rs121908374 Mucolipidosis type IV (MLIV) [MIM:252650]
Detail
0.00 (D)
1 (D)
N
31 MCOLN1 Q9GZU1 p.Val446Leu - Mucolipidosis type IV (MLIV) [MIM:252650]
Detail
0.59 (T)
0.998 (D)
N
32 MCOLN1 Q9GZU1 p.Leu447Pro - Mucolipidosis type IV (MLIV) [MIM:252650]
Detail
0.01 (D)
1 (D)
N
33 MCOLN1 Q9GZU1 p.Val460Glu rs148801378 variant of unknown significance
Detail
0.06 (T)
0.999 (D)
N
34 MCOLN1 Q9GZU1 p.Phe465Leu - Mucolipidosis type IV (MLIV) [MIM:252650]
Detail
0.01 (D)
1 (D)
N
35 MCOLN1 Q9GZU1 p.Ala515Val rs151300825 variant of unknown significance
Detail
0.07 (T)
0.83 (D)
N
36 MCOLN1 Q9GZU1 p.Ala542Thr rs60956953 variant of unknown significance
Detail
0.39 (T)
0.003 (N)
N
37 MCOLN1 Q9GZU1 p.Arg555His rs138020041 variant of unknown significance
Detail
0.13 (T)
0.989 (D)
N