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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 GLRA1 P23415 p.Arg8Pro rs74542605 variant of unknown significance
Detail
0.28 (T)
0.392 (N)
N
2 GLRA1 P23415 p.Glu13Asp rs141704405 variant of unknown significance
Detail
(-)
(-)
N
3 GLRA1 P23415 p.Thr14Ala rs139362887 variant of unknown significance
Detail
(-)
(-)
N
4 GLRA1 P23415 p.Arg48Lys rs151029950 variant of unknown significance
Detail
(-)
(-)
N
5 GLRA1 P23415 p.Val67Met rs142888296 variant of unknown significance
Detail
(-)
(-)
N
6 GLRA1 P23415 p.Met175Val rs121918414 HYPEREKPLEXIA, AUTOSOMAL RECESSIVE [MIM:138491#0009]
Detail
0.02 (D)
0.994 (D)
N
7 GLRA1 P23415 p.Ser259Arg rs121918417 HYPEREKPLEXIA, AUTOSOMAL RECESSIVE [MIM:138491#0012]
Detail
0.01 (D)
1 (D)
N
8 GLRA1 P23415 p.Ile272Asn rs121918409 Startle disease (STHE) [MIM:149400]
Detail
0.00 (D)
0.999 (D)
N
9 GLRA1 P23415 p.Pro278Thr rs121918413 Startle disease (STHE) [MIM:149400]
Detail
0.01 (D)
1 (D)
N
10 GLRA1 P23415 p.Arg280His - Startle disease (STHE) [MIM:149400]
Detail
0.00 (D)
1 (D)
N
11 GLRA1 P23415 p.Arg280Cys rs139058916 variant of unknown significance
Detail
(-)
(-)
N
12 GLRA1 P23415 p.Val288Met rs121918416 HYPEREKPLEXIA, AUTOSOMAL DOMINANT [MIM:138491#0011]
Detail
0.06 (T)
1 (D)
N
13 GLRA1 P23415 p.Gln294His rs121918411 Startle disease (STHE) [MIM:149400]
Detail
0.01 (D)
0.762 (D)
N
14 GLRA1 P23415 p.Arg299Gln rs121918408 Startle disease (STHE) [MIM:149400]
Detail
0.34 (T)
0.957 (D)
N
15 GLRA1 P23415 p.Arg299Leu rs121918408 Startle disease (STHE) [MIM:149400]
Detail
0.26 (T)
0.869 (D)
N
16 GLRA1 P23415 p.Lys304Glu rs121918412 Startle disease (STHE) [MIM:149400]
Detail
0.04 (D)
0.874 (D)
N
17 GLRA1 P23415 p.Tyr307Cys rs121918410 Startle disease (STHE) [MIM:149400]
Detail
0.00 (D)
1 (D)
N
18 GLRA1 P23415 p.Glu341Gly rs77451630 variant of unknown significance
Detail
0.39 (T)
0.008 (N)
N
19 GLRA1 P23415 p.Leu343Pro rs148221542 variant of unknown significance
Detail
(-)
(-)
N
20 GLRA1 P23415 p.Arg347Thr rs147156518 variant of unknown significance
Detail
(-)
(-)
N
21 GLRA1 P23415 p.Arg349Gln rs139213838 variant of unknown significance
Detail
(-)
(-)
N
22 GLRA1 P23415 p.Arg369His rs147471585 variant of unknown significance
Detail
(-)
(-)
N
23 GLRA1 P23415 p.Ser373Ala rs146911085 variant of unknown significance
Detail
(-)
(-)
N
24 GLRA1 P23415 p.Gly378Ser rs116474260 variant of unknown significance
Detail
0.76 (T)
0.023 (N)
N
25 GLRA1 P23415 p.Asn397Thr rs138173310 variant of unknown significance
Detail
(-)
(-)
N
26 GLRA1 P23415 p.Ser406Cys rs140420721 variant of unknown significance
Detail
(-)
(-)
N
27 GLRA1 P23415 p.Met412Leu rs151276682 variant of unknown significance
Detail
(-)
(-)
N
28 GLRA1 P23415 p.Arg428His - Startle disease (STHE) [MIM:149400]
Detail
0.00 (D)
1 (D)
N
29 GLRA1 P23415 p.Arg428Cys rs182383995 variant of unknown significance
Detail
(-)
(-)
N
30 GLRA1 P23415 p.Met440Ile rs141039714 variant of unknown significance
Detail
(-)
(-)
N
31 GLRA1 P23415 p.His455Asn rs146481873 variant of unknown significance
Detail
(-)
(-)
N