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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 TRMU O75648 p.Met1Lys rs118203992 LIVER FAILURE, INFANTILE, TRANSIENT [MIM:610230#0005]
Detail
0.94 (T)
0.485 (N)
N
2 TRMU O75648 p.Leu4Val rs114302881 variant of unknown significance
Detail
0.30 (T)
0 (N)
N
3 TRMU O75648 p.Ala10Ser rs11090865 variant of unknown significance
Detail
0.18 (T)
0.995 (D)
N
4 TRMU O75648 p.Gly14Ser - variant of unknown significance
Detail
0.07 (T)
1 (D)
N
5 TRMU O75648 p.Arg25Ser rs2272938 variant of unknown significance
Detail
0.10 (T)
0.273 (N)
N
6 TRMU O75648 p.Tyr58Cys rs142721051 variant of unknown significance
Detail
0.08 (T)
0.994 (D)
N
7 TRMU O75648 p.Tyr58His rs138382860 variant of unknown significance
Detail
0.20 (T)
0.978 (D)
N
8 TRMU O75648 p.Tyr77His rs118203990 Acute infantile liver failure (AILF) [MIM:613070]
Detail
0.00 (D)
1 (D)
N
9 TRMU O75648 p.Asp80Asn rs55952751 variant of unknown significance
Detail
0.66 (T)
0.631 (D)
N
10 TRMU O75648 p.Lys91Arg rs138044544 variant of unknown significance
Detail
0.54 (T)
0.02 (N)
N
11 TRMU O75648 p.Arg93Lys rs143602034 variant of unknown significance
Detail
0.36 (T)
0.628 (D)
N
12 TRMU O75648 p.Ile99Thr rs144054758 variant of unknown significance
Detail
0.01 (D)
1 (D)
N
13 TRMU O75648 p.Glu137Gly rs150810911 variant of unknown significance
Detail
0.38 (T)
0.971 (D)
N
14 TRMU O75648 p.Glu148Lys rs34012206 variant of unknown significance
Detail
0.88 (T)
0 (N)
N
15 TRMU O75648 p.Gly149Trp rs11541598 variant of unknown significance
Detail
0.03 (D)
0.972 (D)
N
16 TRMU O75648 p.Arg154Trp rs144223581 variant of unknown significance
Detail
0.04 (D)
0.006 (N)
N
17 TRMU O75648 p.Ala160Val rs35338668 variant of unknown significance
Detail
0.32 (T)
0.009 (N)
N
18 TRMU O75648 p.Ile189Met rs192537315 variant of unknown significance
Detail
(-)
(-)
N
19 TRMU O75648 p.Leu192Val rs149815191 variant of unknown significance
Detail
0.10 (T)
0.995 (D)
N
20 TRMU O75648 p.His210Leu rs145817008 variant of unknown significance
Detail
0.79 (T)
0.456 (N)
N
21 TRMU O75648 p.Arg240Gln rs148994335 variant of unknown significance
Detail
0.53 (T)
0.112 (N)
N
22 TRMU O75648 p.Pro241Ala rs142972675 variant of unknown significance
Detail
0.03 (D)
0.995 (D)
N
23 TRMU O75648 p.Gly272Asp rs118203991 Acute infantile liver failure (AILF) [MIM:613070]
Detail
0.07 (T)
0.988 (D)
N
24 TRMU O75648 p.Val279Met - variant of unknown significance
Detail
0.03 (D)
0.017 (N)
N
25 TRMU O75648 p.Arg294Trp rs146937339 variant of unknown significance
Detail
0.01 (D)
0.993 (D)
N
26 TRMU O75648 p.Tyr301Cys rs186961144 variant of unknown significance
Detail
(-)
(-)
N
27 TRMU O75648 p.Pro318Ser rs150128284 variant of unknown significance
Detail
0.50 (T)
1 (D)
N
28 TRMU O75648 p.Thr365Ala rs138586787 variant of unknown significance
Detail
0.22 (T)
0.001 (N)
N
29 TRMU O75648 p.Ala369Val rs111608902 variant of unknown significance
Detail
0.83 (T)
0.999 (D)
N
30 TRMU O75648 p.Glu376Lys rs138150773 variant of unknown significance
Detail
0.33 (T)
0.999 (D)
N
31 TRMU O75648 p.Gln394Arg rs140053406 variant of unknown significance
Detail
0.53 (T)
0.021 (N)
N
32 TRMU O75648 p.Arg398His rs139351059 variant of unknown significance
Detail
0.16 (T)
0 (N)
N
33 TRMU O75648 p.Arg398Cys rs34152016 variant of unknown significance
Detail
0.05 (T)
0.314 (N)
N
34 TRMU O75648 p.Gly416Cys rs150043707 variant of unknown significance
Detail
0.05 (T)
0.391 (N)
N