NM_001002755.4(NFU1):c.74T>A (p.Met25Lys)
|
rs4453725
|
0.37294
|
NM_001002755.4(NFU1):c.286C>T (p.Arg96Cys)
|
rs74637005
|
0.02312
|
NM_001002755.4(NFU1):c.62+9C>T
|
rs114846829
|
0.01785
|
NM_001002755.2(NFU1):c.-166T>C
|
rs73934936
|
0.01772
|
NM_001002755.4(NFU1):c.151G>T (p.Ala51Ser)
|
rs76646410
|
0.01339
|
NM_001002755.4(NFU1):c.411T>C (p.Ile137=)
|
rs12474866
|
0.00978
|
NM_001002755.4(NFU1):c.-6A>G
|
rs116604978
|
0.00625
|
NM_001002755.2(NFU1):c.-119G>A
|
rs372505661
|
0.00341
|
NM_001002755.2(NFU1):c.-200G>A
|
rs531177766
|
0.00121
|
NM_001002755.4(NFU1):c.166+8T>A
|
rs199927640
|
0.00078
|
NM_001002755.4(NFU1):c.167-13T>G
|
rs181762580
|
0.00058
|
NM_001002755.4(NFU1):c.*103G>A
|
rs774104725
|
0.00057
|
NM_001002755.4(NFU1):c.303-19A>G
|
rs141033711
|
0.00031
|
NM_001002755.4(NFU1):c.17G>A (p.Arg6Lys)
|
rs746094022
|
0.00017
|
NM_001002755.4(NFU1):c.62+10G>A
|
rs773351968
|
0.00016
|
NM_001002755.4(NFU1):c.545+11C>T
|
rs775731328
|
0.00015
|
NM_001002755.4(NFU1):c.545+9T>C
|
rs767405381
|
0.00015
|
NM_001002755.4(NFU1):c.622G>T (p.Gly208Cys)
|
rs374514431
|
0.00012
|
NM_001002755.2(NFU1):c.-134A>G
|
rs768859205
|
0.00010
|
NM_001002755.4(NFU1):c.299C>G (p.Ala100Gly)
|
rs139171264
|
0.00009
|
NM_001002755.4(NFU1):c.303-2A>T
|
rs371546359
|
0.00009
|
NM_001002755.4(NFU1):c.698C>T (p.Pro233Leu)
|
rs777602937
|
0.00009
|
NM_001002755.2(NFU1):c.-66C>T
|
rs753424678
|
0.00008
|
NM_001002755.2(NFU1):c.-179C>G
|
rs992843651
|
0.00005
|
NM_001002755.4(NFU1):c.20G>T (p.Arg7Leu)
|
rs765309844
|
0.00005
|
NM_001002755.4(NFU1):c.545+4C>T
|
rs371601286
|
0.00005
|
NM_001002755.4(NFU1):c.546-16T>C
|
rs750424685
|
0.00004
|
NM_001002755.4(NFU1):c.629G>T (p.Cys210Phe)
|
rs201634470
|
0.00004
|
NM_001002755.4(NFU1):c.676A>G (p.Asn226Asp)
|
rs377381866
|
0.00004
|
NM_001002755.4(NFU1):c.371A>G (p.Glu124Gly)
|
rs1235176737
|
0.00003
|
NM_001002755.4(NFU1):c.702G>A (p.Glu234=)
|
rs561482249
|
0.00003
|
NM_001002755.2(NFU1):c.-175G>T
|
rs764708513
|
0.00002
|
NM_001002755.4(NFU1):c.528G>A (p.Leu176=)
|
rs368931176
|
0.00002
|
NM_001002755.4(NFU1):c.636C>G (p.Ser212Arg)
|
rs1272262379
|
0.00002
|
NM_001002755.4(NFU1):c.720+4T>A
|
rs1006415808
|
0.00002
|
NM_001002755.2(NFU1):c.-197T>G
|
rs886056269
|
0.00001
|
NM_001002755.4(NFU1):c.-1G>A
|
rs886056267
|
0.00001
|
NM_001002755.4(NFU1):c.12G>A (p.Thr4=)
|
rs767315359
|
0.00001
|
NM_001002755.4(NFU1):c.154T>G (p.Phe52Val)
|
rs770513953
|
0.00001
|
NM_001002755.4(NFU1):c.300T>C (p.Ala100=)
|
rs201828730
|
0.00001
|
NM_001002755.4(NFU1):c.370-4A>G
|
rs1673014101
|
0.00001
|
NM_001002755.4(NFU1):c.373A>G (p.Asn125Asp)
|
rs769275443
|
0.00001
|
NM_001002755.4(NFU1):c.420A>T (p.Thr140=)
|
rs768949114
|
0.00001
|
NM_001002755.4(NFU1):c.544C>T (p.Arg182Trp)
|
rs1354126704
|
0.00001
|
NM_001002755.4(NFU1):c.545+5G>A
|
rs756085990
|
0.00001
|
NM_001002755.4(NFU1):c.545+7G>T
|
rs750179976
|
0.00001
|
NM_001002755.4(NFU1):c.545G>A (p.Arg182Gln)
|
rs1281276965
|
0.00001
|
NM_001002755.4(NFU1):c.699G>A (p.Pro233=)
|
rs200732109
|
0.00001
|
NC_000002.11:g.(?_69627476)_(69627690_?)dup
|
|
|
NFU1, 55.6-KB DEL, EX4-8DEL
|
|
|
NM_001002755.2(NFU1):c.-41C>T
|
rs775615702
|
|
NM_001002755.2(NFU1):c.-48G>A
|
rs886056268
|
|
NM_001002755.4(NFU1):c.-7G>A
|
rs1208588409
|
|
NM_001002755.4(NFU1):c.107C>T (p.Pro36Leu)
|
|
|
NM_001002755.4(NFU1):c.145C>A (p.Pro49Thr)
|
rs113707482
|
|
NM_001002755.4(NFU1):c.166+3A>G
|
|
|
NM_001002755.4(NFU1):c.199C>G (p.Pro67Ala)
|
|
|
NM_001002755.4(NFU1):c.19C>A (p.Arg7=)
|
|
|
NM_001002755.4(NFU1):c.207A>G (p.Pro69=)
|
|
|
NM_001002755.4(NFU1):c.240T>A (p.Val80=)
|
|
|
NM_001002755.4(NFU1):c.283T>C (p.Phe95Leu)
|
|
|
NM_001002755.4(NFU1):c.287G>A (p.Arg96His)
|
rs774308958
|
|
NM_001002755.4(NFU1):c.290C>G (p.Ser97Cys)
|
|
|
NM_001002755.4(NFU1):c.302+15dup
|
|
|
NM_001002755.4(NFU1):c.302+3A>G
|
|
|
NM_001002755.4(NFU1):c.303-13dup
|
rs372898848
|
|
NM_001002755.4(NFU1):c.303-18T>G
|
|
|
NM_001002755.4(NFU1):c.303-19A>T
|
|
|
NM_001002755.4(NFU1):c.303-4G>A
|
|
|
NM_001002755.4(NFU1):c.313A>C (p.Arg105=)
|
|
|
NM_001002755.4(NFU1):c.324A>C (p.Gly108=)
|
|
|
NM_001002755.4(NFU1):c.332G>T (p.Ser111Ile)
|
rs756434076
|
|
NM_001002755.4(NFU1):c.359C>A (p.Thr120Asn)
|
|
|
NM_001002755.4(NFU1):c.369+4A>C
|
rs775249424
|
|
NM_001002755.4(NFU1):c.370-4A>T
|
rs1673014101
|
|
NM_001002755.4(NFU1):c.370-7T>C
|
|
|
NM_001002755.4(NFU1):c.370-8G>A
|
|
|
NM_001002755.4(NFU1):c.39T>G (p.Ala13=)
|
|
|
NM_001002755.4(NFU1):c.430T>G (p.Phe144Val)
|
|
|
NM_001002755.4(NFU1):c.484+7T>A
|
|
|
NM_001002755.4(NFU1):c.485-1G>C
|
rs1464338870
|
|
NM_001002755.4(NFU1):c.485-20T>A
|
|
|
NM_001002755.4(NFU1):c.485-8_485-5del
|
rs769116545
|
|
NM_001002755.4(NFU1):c.495A>T (p.Glu165Asp)
|
rs886056266
|
|
NM_001002755.4(NFU1):c.497A>G (p.Asp166Gly)
|
rs757971255
|
|
NM_001002755.4(NFU1):c.498TGA[1] (p.Asp167del)
|
|
|
NM_001002755.4(NFU1):c.499G>A (p.Asp167Asn)
|
|
|
NM_001002755.4(NFU1):c.4G>A (p.Ala2Thr)
|
|
|
NM_001002755.4(NFU1):c.526T>C (p.Leu176=)
|
|
|
NM_001002755.4(NFU1):c.545G>T (p.Arg182Leu)
|
rs1281276965
|
|
NM_001002755.4(NFU1):c.546-16T>G
|
rs750424685
|
|
NM_001002755.4(NFU1):c.546G>A (p.Arg182=)
|
|
|
NM_001002755.4(NFU1):c.565G>A (p.Gly189Arg)
|
rs2104735490
|
|
NM_001002755.4(NFU1):c.581A>G (p.Tyr194Cys)
|
|
|
NM_001002755.4(NFU1):c.62+12G>A
|
|
|
NM_001002755.4(NFU1):c.62+14C>G
|
rs370979719
|
|
NM_001002755.4(NFU1):c.62+14C>T
|
rs370979719
|
|
NM_001002755.4(NFU1):c.62G>C (p.Arg21Pro)
|
|
|
NM_001002755.4(NFU1):c.63-4G>A
|
|
|
NM_001002755.4(NFU1):c.68G>A (p.Cys23Tyr)
|
|
|
NM_001002755.4(NFU1):c.697C>A (p.Pro233Thr)
|
|
|
NM_001002755.4(NFU1):c.69T>C (p.Cys23=)
|
rs2104814012
|
|
NM_001002755.4(NFU1):c.708A>G (p.Glu236=)
|
|
|
NM_001002755.4(NFU1):c.721-8G>C
|
rs1672329270
|
|
NM_001002755.4(NFU1):c.733G>A (p.Glu245Lys)
|
|
|
NM_001002755.4(NFU1):c.84T>A (p.Asn28Lys)
|
rs1673654615
|
|
NM_001002755.4(NFU1):c.86C>T (p.Pro29Leu)
|
|
|
NM_001002755.4(NFU1):c.8C>G (p.Ala3Gly)
|
rs975310478
|
|