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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 MYOT Q9UBF9 p.Ser39Phe rs121908461 Spheroid body myopathy (SBM) [MIM:182920]
Detail
0.05 (D)
0.998 (D)
N
2 MYOT Q9UBF9 p.Gln50Arg rs34717730 variant of unknown significance
Detail
0.53 (T)
0.918 (D)
N
3 MYOT Q9UBF9 p.Ser55Phe rs121908457 Limb-girdle muscular dystrophy type 1A (LGMD1A) [MIM:159000]
Detail
0.70 (T)
0.99 (D)
N
4 MYOT Q9UBF9 p.Thr57Ile rs28937597 Limb-girdle muscular dystrophy type 1A (LGMD1A) [MIM:159000]
Detail
0.40 (T)
0.462 (N)
N
5 MYOT Q9UBF9 p.Ser60Phe rs121908458 Myopathy myofibrillar type 3 (MFM3) [MIM:609200]
Detail
0.13 (T)
0.99 (D)
N
6 MYOT Q9UBF9 p.Ser60Cys rs121908458 Myopathy myofibrillar type 3 (MFM3) [MIM:609200]
Detail
0.08 (T)
0.997 (D)
N
7 MYOT Q9UBF9 p.Lys74Gln rs41431944 variant of unknown significance
Detail
0.64 (T)
0 (N)
N
8 MYOT Q9UBF9 p.Thr87Pro rs74861797 variant of unknown significance
Detail
0.42 (T)
0 (N)
N
9 MYOT Q9UBF9 p.Ser95Ile rs121908460 Myopathy myofibrillar type 3 (MFM3) [MIM:609200]
Detail
0.18 (T)
0.805 (D)
N
10 MYOT Q9UBF9 p.Asn108Thr rs142416150 variant of unknown significance
Detail
(-)
(-)
N
11 MYOT Q9UBF9 p.Ser114Tyr rs145935629 variant of unknown significance
Detail
(-)
(-)
N
12 MYOT Q9UBF9 p.Tyr120Cys rs141710153 variant of unknown significance
Detail
(-)
(-)
N
13 MYOT Q9UBF9 p.Glu149Gln rs71578935 variant of unknown significance
Detail
0.55 (T)
0.998 (D)
N
14 MYOT Q9UBF9 p.Glu155Ala rs148166751 variant of unknown significance
Detail
(-)
(-)
N
15 MYOT Q9UBF9 p.Gln177Glu rs140135928 variant of unknown significance
Detail
(-)
(-)
N
16 MYOT Q9UBF9 p.Lys184Arg rs11550978 variant of unknown significance
Detail
0.68 (T)
0.001 (N)
N
17 MYOT Q9UBF9 p.Ala186Thr rs137952692 variant of unknown significance
Detail
(-)
(-)
N
18 MYOT Q9UBF9 p.Gly206Asp rs151094883 variant of unknown significance
Detail
(-)
(-)
N
19 MYOT Q9UBF9 p.Val312Ala rs144649786 variant of unknown significance
Detail
(-)
(-)
N
20 MYOT Q9UBF9 p.Tyr399His rs147239483 variant of unknown significance
Detail
(-)
(-)
N
21 MYOT Q9UBF9 p.Asp401Glu rs78633961 variant of unknown significance
Detail
0.18 (T)
0.974 (D)
N
22 MYOT Q9UBF9 p.Ala429Gly rs144731446 variant of unknown significance
Detail
(-)
(-)
N
23 MYOT Q9UBF9 p.Arg443Cys rs192257955 variant of unknown significance
Detail
(-)
(-)
N
24 MYOT Q9UBF9 p.Arg455Gln rs141801816 variant of unknown significance
Detail
(-)
(-)
N
25 MYOT Q9UBF9 p.Asn467Lys rs145427063 variant of unknown significance
Detail
(-)
(-)
N
26 MYOT Q9UBF9 p.Gly470Asp rs149213350 variant of unknown significance
Detail
(-)
(-)
N
27 MYOT Q9UBF9 p.Arg485Cys rs140755418 variant of unknown significance
Detail
(-)
(-)
N
28 MYOT Q9UBF9 p.Glu497Asp rs4835657 variant of unknown significance
Detail
0.73 (T)
0.973 (D)
N