NM_004738.5(VAPB):c.*5095T>G
|
rs143424619
|
0.00210
|
NM_004738.5(VAPB):c.*4327A>G
|
rs183197400
|
0.00208
|
NM_004738.5(VAPB):c.*2850T>C
|
rs777977641
|
0.00064
|
NM_004738.5(VAPB):c.*1050G>A
|
rs551974797
|
0.00041
|
NM_004738.5(VAPB):c.*4862A>G
|
rs143395644
|
0.00040
|
NM_004738.5(VAPB):c.*3001T>G
|
rs551260354
|
0.00036
|
NM_004738.5(VAPB):c.*3315A>G
|
rs772298515
|
0.00027
|
NM_004738.5(VAPB):c.*5769G>A
|
rs150490845
|
0.00026
|
NM_004738.5(VAPB):c.*5283C>T
|
rs747799775
|
0.00024
|
NM_004738.5(VAPB):c.*1800A>G
|
rs564187580
|
0.00022
|
NM_004738.5(VAPB):c.*6404C>T
|
rs774485714
|
0.00022
|
NM_004738.5(VAPB):c.*3643G>C
|
rs554314719
|
0.00021
|
NM_004738.5(VAPB):c.*2012G>A
|
rs1000867664
|
0.00020
|
NM_004738.5(VAPB):c.574-4G>A
|
rs201798741
|
0.00016
|
NM_004738.5(VAPB):c.*3738A>C
|
rs766693591
|
0.00015
|
NM_004738.5(VAPB):c.*3192T>C
|
rs545089397
|
0.00014
|
NM_004738.5(VAPB):c.*2748A>C
|
rs368079533
|
0.00011
|
NM_004738.5(VAPB):c.*4394C>T
|
rs1042545830
|
0.00009
|
NM_004738.5(VAPB):c.*5771T>G
|
rs746524529
|
0.00009
|
NM_004738.5(VAPB):c.667C>T (p.Arg223Trp)
|
rs144718603
|
0.00009
|
NM_004738.5(VAPB):c.*348C>T
|
rs182950622
|
0.00006
|
NM_004738.5(VAPB):c.*480T>C
|
rs1037475892
|
0.00006
|
NM_004738.5(VAPB):c.*774G>A
|
rs138920779
|
0.00006
|
NM_004738.5(VAPB):c.*382G>A
|
rs968333452
|
0.00005
|
NM_004738.5(VAPB):c.289A>G (p.Thr97Ala)
|
rs752091117
|
0.00005
|
NM_004738.5(VAPB):c.*2733G>A
|
rs533186435
|
0.00004
|
NM_004738.5(VAPB):c.*3305C>G
|
rs747662615
|
0.00004
|
NM_004738.5(VAPB):c.*5145T>C
|
rs79674150
|
0.00004
|
NM_004738.5(VAPB):c.*5453C>T
|
rs1268822756
|
0.00004
|
NM_004738.5(VAPB):c.*6087A>G
|
rs1429161682
|
0.00004
|
NM_004738.5(VAPB):c.502A>G (p.Lys168Glu)
|
rs774643393
|
0.00004
|
NM_004738.5(VAPB):c.58+5G>A
|
rs753611165
|
0.00004
|
NM_004738.5(VAPB):c.*1295T>C
|
rs754082863
|
0.00003
|
NM_004738.5(VAPB):c.*3701C>T
|
rs372302350
|
0.00003
|
NM_004738.5(VAPB):c.*5352C>T
|
rs886056828
|
0.00003
|
NM_004738.5(VAPB):c.*624C>T
|
rs551924874
|
0.00003
|
NM_004738.5(VAPB):c.104C>T (p.Pro35Leu)
|
rs1456089445
|
0.00003
|
NM_004738.5(VAPB):c.550C>T (p.Arg184Trp)
|
rs750394268
|
0.00003
|
NM_004738.5(VAPB):c.618C>T (p.Ser206=)
|
rs747208140
|
0.00003
|
NM_004738.5(VAPB):c.*1563G>C
|
rs1049373137
|
0.00002
|
NM_004738.5(VAPB):c.*172A>C
|
rs757709521
|
0.00002
|
NM_004738.5(VAPB):c.*3134G>T
|
rs886056818
|
0.00002
|
NM_004738.5(VAPB):c.*3493G>A
|
rs764048379
|
0.00002
|
NM_004738.5(VAPB):c.*436C>T
|
rs966052820
|
0.00002
|
NM_004738.5(VAPB):c.*5832G>A
|
rs886056833
|
0.00002
|
NM_004738.5(VAPB):c.199A>G (p.Ile67Val)
|
rs772975721
|
0.00002
|
NM_004738.5(VAPB):c.*1022C>A
|
rs1403046933
|
0.00001
|
NM_004738.5(VAPB):c.*1168G>A
|
rs570596321
|
0.00001
|
NM_004738.5(VAPB):c.*1951A>G
|
rs1233509892
|
0.00001
|
NM_004738.5(VAPB):c.*3027A>G
|
rs140832542
|
0.00001
|
NM_004738.5(VAPB):c.*3628A>G
|
rs886056821
|
0.00001
|
NM_004738.5(VAPB):c.*3942C>T
|
rs886056823
|
0.00001
|
NM_004738.5(VAPB):c.*4023A>G
|
rs1345404183
|
0.00001
|
NM_004738.5(VAPB):c.*4929C>T
|
rs761438209
|
0.00001
|
NM_004738.5(VAPB):c.*574G>A
|
rs1203824252
|
0.00001
|
NM_004738.5(VAPB):c.*602G>A
|
rs536862661
|
0.00001
|
NM_004738.5(VAPB):c.*6238T>C
|
rs886056835
|
0.00001
|
NM_004738.5(VAPB):c.*6354G>A
|
rs886056836
|
0.00001
|
NM_004738.5(VAPB):c.*6462G>T
|
rs761969079
|
0.00001
|
NM_004738.5(VAPB):c.*6746C>T
|
rs886056839
|
0.00001
|
NM_004738.5(VAPB):c.*6842A>G
|
rs886056840
|
0.00001
|
NM_004738.5(VAPB):c.*861T>C
|
rs779052440
|
0.00001
|
NM_004738.5(VAPB):c.-12C>T
|
rs886056810
|
0.00001
|
NM_004738.5(VAPB):c.14A>G (p.Glu5Gly)
|
rs748371538
|
0.00001
|
NM_004738.5(VAPB):c.233A>G (p.Tyr78Cys)
|
rs1475473253
|
0.00001
|
NM_004738.5(VAPB):c.315A>G (p.Val105=)
|
rs757744162
|
0.00001
|
NM_004738.5(VAPB):c.332C>T (p.Pro111Leu)
|
rs777316448
|
0.00001
|
NM_004738.5(VAPB):c.472A>C (p.Ser158Arg)
|
rs773800478
|
0.00001
|
NM_004738.5(VAPB):c.493G>A (p.Glu165Lys)
|
rs772254840
|
0.00001
|
NM_004738.5(VAPB):c.535G>A (p.Glu179Lys)
|
rs1989149258
|
0.00001
|
NM_004738.5(VAPB):c.622A>G (p.Ile208Val)
|
rs376121617
|
0.00001
|
NM_004738.5(VAPB):c.655G>C (p.Gly219Arg)
|
rs1989222522
|
0.00001
|
NC_000020.10:g.(?_57009638)_(57019291_?)dup
|
|
|
NC_000020.11:g.(?_58389109)_(58389527_?)del
|
|
|
NM_004738.5(VAPB):c.*1431G>T
|
rs886056813
|
|
NM_004738.5(VAPB):c.*1905C>T
|
rs1989287889
|
|
NM_004738.5(VAPB):c.*1919A>G
|
rs886056816
|
|
NM_004738.5(VAPB):c.*2350A>G
|
rs1989298509
|
|
NM_004738.5(VAPB):c.*2571G>A
|
rs1989303521
|
|
NM_004738.5(VAPB):c.*2676A>G
|
rs886056817
|
|
NM_004738.5(VAPB):c.*2876A>G
|
rs1989311671
|
|
NM_004738.5(VAPB):c.*3014C>T
|
rs1269284815
|
|
NM_004738.5(VAPB):c.*3118C>A
|
rs56310716
|
|
NM_004738.5(VAPB):c.*3260C>T
|
rs886056819
|
|
NM_004738.5(VAPB):c.*3516C>G
|
rs886056820
|
|
NM_004738.5(VAPB):c.*3870G>C
|
rs886056822
|
|
NM_004738.5(VAPB):c.*4206G>A
|
rs886056824
|
|
NM_004738.5(VAPB):c.*4374A>C
|
rs1989355496
|
|
NM_004738.5(VAPB):c.*4418C>T
|
rs774417253
|
|
NM_004738.5(VAPB):c.*4637G>T
|
rs1313089832
|
|
NM_004738.5(VAPB):c.*5114G>A
|
rs886056826
|
|
NM_004738.5(VAPB):c.*5500A>G
|
rs1989390124
|
|
NM_004738.5(VAPB):c.*5616T>C
|
rs1989394911
|
|
NM_004738.5(VAPB):c.*5789C>T
|
rs867023811
|
|
NM_004738.5(VAPB):c.*5795T>G
|
rs886056831
|
|
NM_004738.5(VAPB):c.*5815G>A
|
rs886056832
|
|
NM_004738.5(VAPB):c.*6068T>C
|
rs897600456
|
|
NM_004738.5(VAPB):c.*6631G>T
|
rs1442004772
|
|
NM_004738.5(VAPB):c.109G>C (p.Asp37His)
|
|
|
NM_004738.5(VAPB):c.110A>C (p.Asp37Ala)
|
rs755474083
|
|
NM_004738.5(VAPB):c.111C>A (p.Asp37Glu)
|
rs781691837
|
|
NM_004738.5(VAPB):c.114_118del (p.Asn39fs)
|
|
|
NM_004738.5(VAPB):c.116A>T (p.Asn39Ile)
|
|
|
NM_004738.5(VAPB):c.121T>C (p.Cys41Arg)
|
|
|
NM_004738.5(VAPB):c.122_123del (p.Cys41fs)
|
|
|
NM_004738.5(VAPB):c.13G>A (p.Glu5Lys)
|
rs777026649
|
|
NM_004738.5(VAPB):c.149G>T (p.Arg50Leu)
|
|
|
NM_004738.5(VAPB):c.151A>G (p.Arg51Gly)
|
|
|
NM_004738.5(VAPB):c.159del (p.Cys53fs)
|
|
|
NM_004738.5(VAPB):c.166_167delinsGA (p.Pro56Asp)
|
|
|
NM_004738.5(VAPB):c.167C>G (p.Pro56Arg)
|
|
|
NM_004738.5(VAPB):c.16C>G (p.Gln6Glu)
|
|
|
NM_004738.5(VAPB):c.178A>G (p.Ile60Val)
|
|
|
NM_004738.5(VAPB):c.188C>T (p.Ala63Val)
|
|
|
NM_004738.5(VAPB):c.193G>A (p.Ala65Thr)
|
|
|
NM_004738.5(VAPB):c.194C>T (p.Ala65Val)
|
rs1555813002
|
|
NM_004738.5(VAPB):c.209C>T (p.Ser70Phe)
|
rs762603323
|
|
NM_004738.5(VAPB):c.212-12T>C
|
rs1988997194
|
|
NM_004738.5(VAPB):c.212-6_212-5insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTCCGCGGCTGCGGCCTGGGGAGCGGGTGCGCGTTGGTGGTGCGCGCGAGGGCGAGGGCCAGGGAGAGGGAGAGGGAGAGGGAGCGAAATATTTTCTTT
|
|
|
NM_004738.5(VAPB):c.224C>G (p.Pro75Arg)
|
rs2123088879
|
|
NM_004738.5(VAPB):c.229G>A (p.Asp77Asn)
|
|
|
NM_004738.5(VAPB):c.242A>G (p.Asn81Ser)
|
|
|
NM_004738.5(VAPB):c.246G>C (p.Glu82Asp)
|
rs2123088925
|
|
NM_004738.5(VAPB):c.256C>G (p.His86Asp)
|
|
|
NM_004738.5(VAPB):c.258C>A (p.His86Gln)
|
|
|
NM_004738.5(VAPB):c.283G>C (p.Ala95Pro)
|
|
|
NM_004738.5(VAPB):c.283G>T (p.Ala95Ser)
|
|
|
NM_004738.5(VAPB):c.301G>C (p.Asp101His)
|
|
|
NM_004738.5(VAPB):c.305T>C (p.Met102Thr)
|
|
|
NM_004738.5(VAPB):c.30C>T (p.Leu10=)
|
rs886056811
|
|
NM_004738.5(VAPB):c.310G>A (p.Ala104Thr)
|
rs1295445556
|
|
NM_004738.5(VAPB):c.31G>C (p.Glu11Gln)
|
|
|
NM_004738.5(VAPB):c.340C>G (p.Leu114Val)
|
|
|
NM_004738.5(VAPB):c.344T>C (p.Met115Thr)
|
|
|
NM_004738.5(VAPB):c.34C>T (p.Pro12Ser)
|
rs1431840351
|
|
NM_004738.5(VAPB):c.354A>C (p.Lys118Asn)
|
|
|
NM_004738.5(VAPB):c.35C>T (p.Pro12Leu)
|
rs1987730075
|
|
NM_004738.5(VAPB):c.373T>A (p.Leu125Met)
|
|
|
NM_004738.5(VAPB):c.376C>G (p.Pro126Ala)
|
|
|
NM_004738.5(VAPB):c.385A>T (p.Asn129Tyr)
|
|
|
NM_004738.5(VAPB):c.38A>C (p.Gln13Pro)
|
rs760656837
|
|
NM_004738.5(VAPB):c.396+6T>C
|
|
|
NM_004738.5(VAPB):c.421A>G (p.Ile141Val)
|
rs1392475929
|
|
NM_004738.5(VAPB):c.434C>T (p.Ala145Val)
|
|
|
NM_004738.5(VAPB):c.451C>T (p.Pro151Ser)
|
rs1989146263
|
|
NM_004738.5(VAPB):c.454A>G (p.Ile152Val)
|
|
|
NM_004738.5(VAPB):c.455T>C (p.Ile152Thr)
|
|
|
NM_004738.5(VAPB):c.457G>A (p.Val153Met)
|
rs1362788253
|
|
NM_004738.5(VAPB):c.460T>A (p.Ser154Thr)
|
|
|
NM_004738.5(VAPB):c.482T>C (p.Leu161Ser)
|
rs1555815825
|
|
NM_004738.5(VAPB):c.502_503delinsGT (p.Lys168Val)
|
rs2123099930
|
|
NM_004738.5(VAPB):c.512A>T (p.Glu171Val)
|
|
|
NM_004738.5(VAPB):c.518G>A (p.Cys173Tyr)
|
rs1989148708
|
|
NM_004738.5(VAPB):c.532G>A (p.Gly178Ser)
|
rs1039112226
|
|
NM_004738.5(VAPB):c.542A>G (p.Gln181Arg)
|
|
|
NM_004738.5(VAPB):c.545G>A (p.Arg182Lys)
|
rs1568720020
|
|
NM_004738.5(VAPB):c.551G>A (p.Arg184Gln)
|
rs145483046
|
|
NM_004738.5(VAPB):c.563A>G (p.Lys188Arg)
|
|
|
NM_004738.5(VAPB):c.563dup (p.Gln189fs)
|
|
|
NM_004738.5(VAPB):c.587T>C (p.Leu196Pro)
|
rs1252954619
|
|
NM_004738.5(VAPB):c.589C>T (p.Arg197Trp)
|
rs371134278
|
|
NM_004738.5(VAPB):c.59-3C>T
|
|
|
NM_004738.5(VAPB):c.592A>T (p.Met198Leu)
|
|
|
NM_004738.5(VAPB):c.601A>T (p.Thr201Ser)
|
rs757786343
|
|
NM_004738.5(VAPB):c.602C>T (p.Thr201Ile)
|
|
|
NM_004738.5(VAPB):c.610A>G (p.Ser204Gly)
|
|
|
NM_004738.5(VAPB):c.635C>A (p.Ala212Asp)
|
rs1989221617
|
|
NM_004738.5(VAPB):c.640A>G (p.Thr214Ala)
|
|
|
NM_004738.5(VAPB):c.656G>T (p.Gly219Val)
|
rs786205553
|
|
NM_004738.5(VAPB):c.659T>G (p.Leu220Arg)
|
rs1989222839
|
|
NM_004738.5(VAPB):c.668G>C (p.Arg223Pro)
|
rs763755820
|
|
NM_004738.5(VAPB):c.674T>C (p.Leu225Ser)
|
rs1439925669
|
|
NM_004738.5(VAPB):c.677C>A (p.Ala226Asp)
|
rs2123105103
|
|
NM_004738.5(VAPB):c.677C>T (p.Ala226Val)
|
rs2123105103
|
|
NM_004738.5(VAPB):c.680T>C (p.Leu227Pro)
|
|
|
NM_004738.5(VAPB):c.688T>G (p.Leu230Val)
|
rs1600821730
|
|
NM_004738.5(VAPB):c.691T>C (p.Phe231Leu)
|
|
|
NM_004738.5(VAPB):c.700G>A (p.Val234Ile)
|
|
|
NM_004738.5(VAPB):c.704G>T (p.Gly235Val)
|
|
|
NM_004738.5(VAPB):c.709A>G (p.Ile237Val)
|
rs1555816248
|
|
NM_004738.5(VAPB):c.70G>A (p.Asp24Asn)
|
|
|
NM_004738.5(VAPB):c.719A>G (p.Lys240Arg)
|
|
|
NM_004738.5(VAPB):c.82A>G (p.Thr28Ala)
|
rs2123058661
|
|
NM_004738.5(VAPB):c.85A>G (p.Asn29Asp)
|
rs2123058664
|
|
NM_004738.5(VAPB):c.86A>G (p.Asn29Ser)
|
rs1293144080
|
|
NM_004738.5(VAPB):c.93G>T (p.Lys31Asn)
|
|
|