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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 BCS1L Q9Y276 p.Gly35Arg rs121908579 Bjoernstad syndrome (BJS) [MIM:262000]
Detail
0.34 (T)
0.995 (D)
N
2 BCS1L Q9Y276 p.Arg45Cys rs121908575 Mitochondrial complex III deficiency (MT-C3D) [MIM:124000]
Detail
0.02 (D)
1 (D)
N
3 BCS1L Q9Y276 p.Thr50Ala rs121908580 Mitochondrial complex III deficiency (MT-C3D) [MIM:124000]
Detail
0.40 (T)
0.996 (D)
N
4 BCS1L Q9Y276 p.Leu67Pro rs74927693 variant of unknown significance
Detail
0.19 (T)
0.818 (D)
N
5 BCS1L Q9Y276 p.Arg73Cys rs140812286 Mitochondrial complex III deficiency (MT-C3D) [MIM:124000]
Detail
0.10 (T)
0.973 (D)
N
6 BCS1L Q9Y276 p.Ser78Gly rs28937590 GRACILE syndrome (GRACILE) [MIM:603358]
Detail
0.21 (T)
0.991 (D)
N
7 BCS1L Q9Y276 p.Pro99Leu rs121908572 Mitochondrial complex III deficiency (MT-C3D) [MIM:124000]
Detail
0.00 (D)
1 (D)
N
8 BCS1L Q9Y276 p.Arg109Trp rs141257714 variant of unknown significance
Detail
0.01 (D)
0.964 (D)
N
9 BCS1L Q9Y276 p.Arg109Gln rs149382836 variant of unknown significance
Detail
0.40 (T)
0.001 (N)
N
10 BCS1L Q9Y276 p.Arg114Trp - Bjoernstad syndrome (BJS) [MIM:262000]
Detail
0.16 (T)
0.999 (D)
N
11 BCS1L Q9Y276 p.Arg144Gln - GRACILE syndrome (GRACILE) [MIM:603358]
Detail
0.59 (T)
0.978 (D)
N
12 BCS1L Q9Y276 p.Arg155Pro rs121908573 Mitochondrial complex III deficiency (MT-C3D) [MIM:124000]
Detail
0.05 (D)
1 (D)
N
13 BCS1L Q9Y276 p.Arg177His rs143968821 variant of unknown significance
Detail
0.03 (D)
0.992 (D)
N
14 BCS1L Q9Y276 p.Arg183His rs121908577 Bjoernstad syndrome (BJS) [MIM:262000]
Detail
0.25 (T)
1 (D)
N
15 BCS1L Q9Y276 p.Arg183Cys rs144885874 Mitochondrial complex III deficiency (MT-C3D) [MIM:124000]
Detail
0.00 (D)
1 (D)
N
16 BCS1L Q9Y276 p.Arg184Cys rs121908578 Bjoernstad syndrome (BJS) [MIM:262000]
Detail
0.05 (D)
0.997 (D)
N
17 BCS1L Q9Y276 p.Val192Ile rs139009621 variant of unknown significance
Detail
0.94 (T)
0.047 (N)
N
18 BCS1L Q9Y276 p.Val205Ile rs148278887 variant of unknown significance
Detail
0.37 (T)
0.001 (N)
N
19 BCS1L Q9Y276 p.Asp210Asn rs58447305 variant of unknown significance
Detail
0.53 (T)
0 (N)
N
20 BCS1L Q9Y276 p.Ser259Thr rs77729067 variant of unknown significance
Detail
0.63 (T)
0.06 (N)
N
21 BCS1L Q9Y276 p.Ser259Pro rs77729067 variant of unknown significance
Detail
0.30 (T)
0.267 (N)
N
22 BCS1L Q9Y276 p.Pro274Leu rs144823158 variant of unknown significance
Detail
0.01 (D)
1 (D)
N
23 BCS1L Q9Y276 p.Ser277Asn rs121908571 Mitochondrial complex III deficiency (MT-C3D) [MIM:124000]
Detail
0.13 (T)
0.995 (D)
N
24 BCS1L Q9Y276 p.Gln302Glu - Bjoernstad syndrome (BJS) [MIM:262000]
Detail
1.00 (T)
0.001 (N)
N
25 BCS1L Q9Y276 p.Arg306His - Bjoernstad syndrome (BJS) [MIM:262000]
Detail
0.11 (T)
0.562 (D)
N
26 BCS1L Q9Y276 p.Phe309Leu rs141618813 variant of unknown significance
Detail
0.85 (T)
0.088 (N)
N
27 BCS1L Q9Y276 p.Val327Ala - GRACILE syndrome (GRACILE) [MIM:603358]
Detail
0.11 (T)
0.958 (D)
N
28 BCS1L Q9Y276 p.Asn332Lys rs33946522 variant of unknown significance
Detail
0.00 (D)
1 (D)
N
29 BCS1L Q9Y276 p.Val334Ile rs146731467 variant of unknown significance
Detail
0.93 (T)
0 (N)
N
30 BCS1L Q9Y276 p.Val353Met rs121908574 Mitochondrial complex III deficiency (MT-C3D) [MIM:124000]
Detail
0.13 (T)
0.818 (D)
N
31 BCS1L Q9Y276 p.Phe368Ile - Mitochondrial complex III deficiency (MT-C3D) [MIM:124000]
Detail
0.10 (T)
1 (D)
N
32 BCS1L Q9Y276 p.Phe368Ser rs111718078 variant of unknown significance
Detail
0.01 (D)
1 (D)
N
33 BCS1L Q9Y276 p.Ile411Ser rs142436820 variant of unknown significance
Detail
0.79 (T)
0.001 (N)
N
34 BCS1L Q9Y276 p.His412Tyr rs139262107 variant of unknown significance
Detail
0.80 (T)
0.003 (N)
N