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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 DARS2 Q6PI48 p.Leu10Val rs4427454 variant of unknown significance
Detail
0.62 (T)
0.307 (N)
N
2 DARS2 Q6PI48 p.Arg31Gly rs140881109 variant of unknown significance
Detail
0.34 (T)
0.992 (D)
N
3 DARS2 Q6PI48 p.Ser45Gly rs121918209 Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
Detail
0.53 (T)
0.202 (N)
N
4 DARS2 Q6PI48 p.Arg50Gln rs150167473 variant of unknown significance
Detail
0.01 (D)
1 (D)
N
5 DARS2 Q6PI48 p.Gly63Asp rs114714497 variant of unknown significance
Detail
0.12 (T)
0.594 (D)
N
6 DARS2 Q6PI48 p.Asp87Gly rs149598381 variant of unknown significance
Detail
0.26 (T)
0.028 (N)
N
7 DARS2 Q6PI48 p.Cys152Phe rs121918208 Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
Detail
0.04 (D)
0.983 (D)
N
8 DARS2 Q6PI48 p.Arg179His rs121918210 Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
Detail
0.00 (D)
1 (D)
N
9 DARS2 Q6PI48 p.Gln184Lys - Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
Detail
0.18 (T)
0.998 (D)
N
10 DARS2 Q6PI48 p.Arg188Gln rs182811621 variant of unknown significance
Detail
(-)
(-)
N
11 DARS2 Q6PI48 p.Val194Ile rs186723843 variant of unknown significance
Detail
(-)
(-)
N
12 DARS2 Q6PI48 p.Lys196Arg rs35515638 variant of unknown significance
Detail
0.63 (T)
0.003 (N)
N
13 DARS2 Q6PI48 p.Gln248Lys - Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
Detail
0.01 (D)
0.995 (D)
N
14 DARS2 Q6PI48 p.Arg263Gln rs121918207 Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
Detail
0.02 (D)
1 (D)
N
15 DARS2 Q6PI48 p.Gly338Glu rs141298312 variant of unknown significance
Detail
0.30 (T)
0.291 (N)
N
16 DARS2 Q6PI48 p.Asn416Asp rs138154457 variant of unknown significance
Detail
0.00 (D)
0.028 (N)
N
17 DARS2 Q6PI48 p.Glu435Asp rs150642385 variant of unknown significance
Detail
0.06 (T)
0.002 (N)
N
18 DARS2 Q6PI48 p.Trp480Gly rs149355062 variant of unknown significance
Detail
0.00 (D)
1 (D)
N
19 DARS2 Q6PI48 p.Phe484Leu rs181672516 variant of unknown significance
Detail
(-)
(-)
N
20 DARS2 Q6PI48 p.Ser499Trp rs146122206 variant of unknown significance
Detail
0.00 (D)
1 (D)
N
21 DARS2 Q6PI48 p.Leu548Met rs149660059 variant of unknown significance
Detail
0.20 (T)
0.787 (D)
N
22 DARS2 Q6PI48 p.Ala554Thr rs147603024 variant of unknown significance
Detail
0.26 (T)
0.064 (N)
N
23 DARS2 Q6PI48 p.Asp560Val - Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
Detail
0.13 (T)
1 (D)
N
24 DARS2 Q6PI48 p.Leu588Pro rs141483913 variant of unknown significance
Detail
0.01 (D)
1 (D)
N
25 DARS2 Q6PI48 p.Leu613Phe rs121918212 Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
Detail
0.16 (T)
0.992 (D)
N
26 DARS2 Q6PI48 p.Leu626Gln rs121918213 Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
Detail
0.01 (D)
0.975 (D)
N
27 DARS2 Q6PI48 p.Leu626Val rs121918205 Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
Detail
0.04 (D)
0.178 (N)
N
28 DARS2 Q6PI48 p.Tyr629Cys - Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
Detail
0.02 (D)
1 (D)
N