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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 EPM2A O95278 p.Ser25Pro - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
Detail
0.21 (T)
1 (D)
N
2 EPM2A O95278 p.Glu28Lys - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
Detail
1.00 (T)
1 (D)
N
3 EPM2A O95278 p.Trp32Gly rs104893955 Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
Detail
0.34 (T)
1 (D)
N
4 EPM2A O95278 p.Gln55Lys rs187930476 variant of unknown significance
Detail
(-)
(-)
N
5 EPM2A O95278 p.Phe84Leu - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
Detail
0.84 (T)
0.001 (N)
N
6 EPM2A O95278 p.Phe88Leu - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
Detail
0.72 (T)
0.387 (N)
N
7 EPM2A O95278 p.Arg91Pro - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
Detail
0.29 (T)
0.991 (D)
N
8 EPM2A O95278 p.Arg108Cys rs137852915 Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
Detail
0.01 (D)
1 (D)
N
9 EPM2A O95278 p.Glu114Asp - variant of unknown significance
Detail
0.65 (T)
0.004 (N)
N
10 EPM2A O95278 p.Ile126Val rs150452237 variant of unknown significance
Detail
(-)
(-)
N
11 EPM2A O95278 p.Asn137Ser rs61757376 variant of unknown significance
Detail
0.73 (T)
0.01 (N)
N
12 EPM2A O95278 p.Lys140Asn - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
Detail
0.31 (T)
0.907 (D)
N
13 EPM2A O95278 p.Thr143Ala rs144204777 variant of unknown significance
Detail
(-)
(-)
N
14 EPM2A O95278 p.Asn148Tyr - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
Detail
0.06 (T)
0.002 (N)
N
15 EPM2A O95278 p.Asn163Ser rs141919651 variant of unknown significance
Detail
(-)
(-)
N
16 EPM2A O95278 p.Leu166Val rs147645370 variant of unknown significance
Detail
(-)
(-)
N
17 EPM2A O95278 p.Arg171His rs137852916 Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
Detail
0.01 (D)
1 (D)
N
18 EPM2A O95278 p.Thr187Ala - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
Detail
0.11 (T)
1 (D)
N
19 EPM2A O95278 p.Met190Lys rs191406622 variant of unknown significance
Detail
(-)
(-)
N
20 EPM2A O95278 p.Thr194Ile - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
Detail
0.02 (D)
1 (D)
N
21 EPM2A O95278 p.Gln200His rs142658692 variant of unknown significance
Detail
(-)
(-)
N
22 EPM2A O95278 p.Arg207Cys rs186710183 variant of unknown significance
Detail
(-)
(-)
N
23 EPM2A O95278 p.Glu210Lys - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
Detail
0.10 (T)
0.113 (N)
N
24 EPM2A O95278 p.Pro211Leu rs148475381 variant of unknown significance
Detail
(-)
(-)
N
25 EPM2A O95278 p.Asp215Val rs144565191 variant of unknown significance
Detail
(-)
(-)
N
26 EPM2A O95278 p.Ala227Val rs147399860 variant of unknown significance
Detail
(-)
(-)
N
27 EPM2A O95278 p.Gly240Ser - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
Detail
0.40 (T)
0.332 (N)
N
28 EPM2A O95278 p.Pro246Ser rs141975071 variant of unknown significance
Detail
(-)
(-)
N
29 EPM2A O95278 p.Ala254Val rs138798058 variant of unknown significance
Detail
(-)
(-)
N
30 EPM2A O95278 p.Val262Gly rs150609514 variant of unknown significance
Detail
(-)
(-)
N
31 EPM2A O95278 p.Gly279Ser rs137852917 Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
Detail
0.21 (T)
1 (D)
N
32 EPM2A O95278 p.Gln293Leu - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
Detail
0.63 (T)
0.996 (D)
N
33 EPM2A O95278 p.Tyr294Asn - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
Detail
0.42 (T)
1 (D)
N
34 EPM2A O95278 p.Arg300Thr rs148164886 variant of unknown significance
Detail
(-)
(-)
N
35 EPM2A O95278 p.Pro301Leu - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
Detail
0.01 (D)
0.999 (D)
N
36 EPM2A O95278 p.Leu310Trp - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
Detail
0.17 (T)
0.999 (D)
N
37 EPM2A O95278 p.Ala313Thr rs189479757 variant of unknown significance
Detail
(-)
(-)
N