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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 VCP P55072 p.Ile27Val rs140913250 variant of unknown significance
3cf3
B
Detail
0.51 (T)
0 (N)
N
2 VCP P55072 p.Arg95Gly rs121909332 Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) [MIM:167320]
3cf3
B
Detail
0.46 (T)
0.002 (N)
D ( Predicted by rules : 1 )
3 VCP P55072 p.Arg155Cys rs121909330 Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) [MIM:167320]
3cf3
B
Detail
0.06 (T)
0.996 (D)
D ( Predicted by rules : 1 )
3 VCP P55072 p.Arg155Pro rs121909333 Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) [MIM:167320]
3cf3
B
Detail
0.30 (T)
0.128 (N)
D ( Predicted by rules : 1 )
3 VCP P55072 p.Arg155His rs121909329 Amyotrophic lateral sclerosis type 14 with or without frontotemporal dementia (ALS14) [MIM:613954]
3cf3
B
Detail
0.15 (T)
0.034 (N)
D ( Predicted by rules : 1 )
3 VCP P55072 p.Arg159Gly - Amyotrophic lateral sclerosis type 14 with or without frontotemporal dementia (ALS14) [MIM:613954]
3cf3
B
Detail
0.40 (T)
(-)
D ( Predicted by rules : 1 )
3 VCP P55072 p.Arg159His rs121909335 Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) [MIM:167320]
3cf3
B
Detail
0.12 (T)
0.196 (N)
D ( Predicted by rules : 1 2 3 )
5 VCP P55072 p.Arg191Gln rs121909334 Amyotrophic lateral sclerosis type 14 with or without frontotemporal dementia (ALS14) [MIM:613954]
3cf3
B
Detail
0.59 (T)
0.95 (D)
N
6 VCP P55072 p.Ala232Glu rs121909331 Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) [MIM:167320]
3cf3
B
Detail
0.78 (T)
0.006 (N)
N
7 VCP P55072 p.Asn401Ser rs148329626 variant of unknown significance
3cf3
B
Detail
0.54 (T)
0 (N)
N
8 VCP P55072 p.Thr436Ile rs186780925 variant of unknown significance
3cf3
B
Detail
(-)
(-)
N
9 VCP P55072 p.Lys524Glu rs77248841 variant of unknown significance
3cf3
B
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 )
3 VCP P55072 p.Asp592Asn - Amyotrophic lateral sclerosis type 14 with or without frontotemporal dementia (ALS14) [MIM:613954]
3cf3
B
Detail
0.37 (T)
(-)
N
4 VCP P55072 p.Pro729Leu rs11546022 variant of unknown significance
3cf3
B
Detail
0.65 (T)
0.016 (N)
D ( Predicted by rules : 1 )
3 VCP P55072 p.Asp799Gly rs111903589 variant of unknown significance
Detail
0.46 (T)
0 (N)
N