NM_001244008.2(KIF1A):c.223C>T (p.Arg75Trp)
|
rs778224699
|
0.00004
|
NM_001244008.2(KIF1A):c.1048C>T (p.Arg350Trp)
|
rs387907259
|
0.00001
|
NM_001244008.2(KIF1A):c.1139G>A (p.Arg380Gln)
|
rs759791775
|
0.00001
|
NM_001244008.2(KIF1A):c.2909G>A (p.Arg970His)
|
rs201742042
|
0.00001
|
NM_001244008.2(KIF1A):c.499C>T (p.Arg167Cys)
|
rs672601365
|
0.00001
|
GRCh37/hg19 2q37.3(chr2:241722007-241737169)x1
|
|
|
NM_001244008.2(KIF1A):c.1000G>A (p.Ala334Thr)
|
|
|
NM_001244008.2(KIF1A):c.1021A>C (p.Thr341Pro)
|
|
|
NM_001244008.2(KIF1A):c.1021A>G (p.Thr341Ala)
|
rs2052419658
|
|
NM_001244008.2(KIF1A):c.1037+1G>C
|
rs2125976529
|
|
NM_001244008.2(KIF1A):c.103A>G (p.Thr35Ala)
|
|
|
NM_001244008.2(KIF1A):c.1048C>G (p.Arg350Gly)
|
rs387907259
|
|
NM_001244008.2(KIF1A):c.1049G>A (p.Arg350Gln)
|
|
|
NM_001244008.2(KIF1A):c.104C>A (p.Thr35Asn)
|
rs2056551129
|
|
NM_001244008.2(KIF1A):c.1115T>C (p.Leu372Pro)
|
rs2052246987
|
|
NM_001244008.2(KIF1A):c.1139G>C (p.Arg380Pro)
|
rs759791775
|
|
NM_001244008.2(KIF1A):c.1181-1G>A
|
rs1553635398
|
|
NM_001244008.2(KIF1A):c.1208-2A>C
|
|
|
NM_001244008.2(KIF1A):c.1421+2T>A
|
rs751051049
|
|
NM_001244008.2(KIF1A):c.142A>G (p.Lys48Glu)
|
|
|
NM_001244008.2(KIF1A):c.1477G>A (p.Gly493Ser)
|
rs879253991
|
|
NM_001244008.2(KIF1A):c.153C>G (p.Ser51Arg)
|
rs919187835
|
|
NM_001244008.2(KIF1A):c.1578-2A>G
|
rs2125925871
|
|
NM_001244008.2(KIF1A):c.173C>G (p.Ser58Trp)
|
rs672601362
|
|
NM_001244008.2(KIF1A):c.173C>T (p.Ser58Leu)
|
rs672601362
|
|
NM_001244008.2(KIF1A):c.1894C>T (p.Gln632Ter)
|
rs2050749062
|
|
NM_001244008.2(KIF1A):c.1898G>A (p.Arg633His)
|
rs1553633823
|
|
NM_001244008.2(KIF1A):c.206C>T (p.Ser69Leu)
|
rs786200949
|
|
NM_001244008.2(KIF1A):c.2116+1G>C
|
rs1553633687
|
|
NM_001244008.2(KIF1A):c.232G>A (p.Gly78Ser)
|
rs1057518760
|
|
NM_001244008.2(KIF1A):c.233G>A (p.Gly78Asp)
|
rs1575637048
|
|
NM_001244008.2(KIF1A):c.2350C>T (p.Arg784Ter)
|
rs1327297188
|
|
NM_001244008.2(KIF1A):c.254C>A (p.Ala85Asp)
|
rs1553639041
|
|
NM_001244008.2(KIF1A):c.266A>T (p.Tyr89Phe)
|
|
|
NM_001244008.2(KIF1A):c.278_307del (p.Ile93_Gly102del)
|
|
|
NM_001244008.2(KIF1A):c.301G>A (p.Ala101Thr)
|
rs2126091792
|
|
NM_001244008.2(KIF1A):c.302C>T (p.Ala101Val)
|
|
|
NM_001244008.2(KIF1A):c.304G>A (p.Gly102Ser)
|
rs1064795534
|
|
NM_001244008.2(KIF1A):c.305G>A (p.Gly102Asp)
|
rs672601363
|
|
NM_001244008.2(KIF1A):c.317C>A (p.Thr106Asn)
|
rs2055181124
|
|
NM_001244008.2(KIF1A):c.31C>T (p.Arg11Trp)
|
rs548204329
|
|
NM_001244008.2(KIF1A):c.32G>A (p.Arg11Gln)
|
rs1575654528
|
|
NM_001244008.2(KIF1A):c.32G>T (p.Arg11Leu)
|
rs1575654528
|
|
NM_001244008.2(KIF1A):c.3374+2T>G
|
rs2125791006
|
|
NM_001244008.2(KIF1A):c.3465+1G>A
|
|
|
NM_001244008.2(KIF1A):c.377T>C (p.Leu126Pro)
|
rs2055064647
|
|
NM_001244008.2(KIF1A):c.37C>A (p.Arg13Ser)
|
rs1064794935
|
|
NM_001244008.2(KIF1A):c.37C>T (p.Arg13Cys)
|
rs1064794935
|
|
NM_001244008.2(KIF1A):c.38G>A (p.Arg13His)
|
rs797045050
|
|
NM_001244008.2(KIF1A):c.38G>T (p.Arg13Leu)
|
rs797045050
|
|
NM_001244008.2(KIF1A):c.3910C>T (p.Arg1304Ter)
|
rs879254106
|
|
NM_001244008.2(KIF1A):c.40C>A (p.Pro14Thr)
|
rs2056558371
|
|
NM_001244008.2(KIF1A):c.41C>T (p.Pro14Leu)
|
rs879253976
|
|
NM_001244008.2(KIF1A):c.4278C>G (p.Tyr1426Ter)
|
rs572662012
|
|
NM_001244008.2(KIF1A):c.430G>T (p.Val144Phe)
|
rs672601364
|
|
NM_001244008.2(KIF1A):c.4319-2A>G
|
rs1559477798
|
|
NM_001244008.2(KIF1A):c.4339C>T (p.Arg1447Ter)
|
rs1057519240
|
|
NM_001244008.2(KIF1A):c.440T>G (p.Met147Arg)
|
rs1369791205
|
|
NM_001244008.2(KIF1A):c.442G>A (p.Glu148Lys)
|
rs2126071880
|
|
NM_001244008.2(KIF1A):c.444G>T (p.Glu148Asp)
|
rs2054763570
|
|
NM_001244008.2(KIF1A):c.452G>A (p.Cys151Tyr)
|
rs1553638655
|
|
NM_001244008.2(KIF1A):c.469C>T (p.Leu157Phe)
|
rs2054761091
|
|
NM_001244008.2(KIF1A):c.470T>C (p.Leu157Pro)
|
rs1575631836
|
|
NM_001244008.2(KIF1A):c.4868+1G>C
|
rs1553624714
|
|
NM_001244008.2(KIF1A):c.500G>A (p.Arg167His)
|
rs2054757914
|
|
NM_001244008.2(KIF1A):c.506G>C (p.Arg169Thr)
|
rs876661168
|
|
NM_001244008.2(KIF1A):c.518T>C (p.Leu173Pro)
|
rs2054755647
|
|
NM_001244008.2(KIF1A):c.556G>T (p.Val186Phe)
|
rs2054752278
|
|
NM_001244008.2(KIF1A):c.595G>A (p.Gly199Arg)
|
rs1553638614
|
|
NM_001244008.2(KIF1A):c.604G>C (p.Ala202Pro)
|
rs672601366
|
|
NM_001244008.2(KIF1A):c.609-1G>A
|
rs1559527796
|
|
NM_001244008.2(KIF1A):c.609_610delinsAAAAG (p.Thr204delinsLysAla)
|
rs2126062809
|
|
NM_001244008.2(KIF1A):c.630G>A (p.Met210Ile)
|
|
|
NM_001244008.2(KIF1A):c.641G>A (p.Ser214Asn)
|
rs1553638309
|
|
NM_001244008.2(KIF1A):c.643A>C (p.Ser215Arg)
|
rs672601367
|
|
NM_001244008.2(KIF1A):c.646C>T (p.Arg216Cys)
|
rs797045164
|
|
NM_001244008.2(KIF1A):c.647G>A (p.Arg216His)
|
rs672601368
|
|
NM_001244008.2(KIF1A):c.647G>C (p.Arg216Pro)
|
rs672601368
|
|
NM_001244008.2(KIF1A):c.652C>T (p.His218Tyr)
|
rs2054549834
|
|
NM_001244008.2(KIF1A):c.746T>A (p.Leu249Gln)
|
rs672601371
|
|
NM_001244008.2(KIF1A):c.746T>C (p.Leu249Pro)
|
rs672601371
|
|
NM_001244008.2(KIF1A):c.748G>T (p.Ala250Ser)
|
rs2054374864
|
|
NM_001244008.2(KIF1A):c.749C>A (p.Ala250Asp)
|
rs1559526692
|
|
NM_001244008.2(KIF1A):c.756C>G (p.Ser252Arg)
|
rs555641774
|
|
NM_001244008.2(KIF1A):c.759G>C (p.Glu253Asp)
|
rs762126771
|
|
NM_001244008.2(KIF1A):c.760C>G (p.Arg254Gly)
|
rs879253888
|
|
NM_001244008.2(KIF1A):c.760C>T (p.Arg254Trp)
|
rs879253888
|
|
NM_001244008.2(KIF1A):c.761G>A (p.Arg254Gln)
|
rs886041692
|
|
NM_001244008.2(KIF1A):c.764C>A (p.Ala255Asp)
|
|
|
NM_001244008.2(KIF1A):c.773C>A (p.Thr258Lys)
|
rs1553638086
|
|
NM_001244008.2(KIF1A):c.773C>T (p.Thr258Met)
|
rs1553638086
|
|
NM_001244008.2(KIF1A):c.798+1G>A
|
rs1064796565
|
|
NM_001244008.2(KIF1A):c.799G>A (p.Glu267Lys)
|
rs1553637932
|
|
NM_001244008.2(KIF1A):c.79A>G (p.Ile27Val)
|
|
|
NM_001244008.2(KIF1A):c.79A>T (p.Ile27Phe)
|
rs2056552812
|
|
NM_001244008.2(KIF1A):c.802G>A (p.Gly268Arg)
|
rs1575624664
|
|
NM_001244008.2(KIF1A):c.803G>A (p.Gly268Glu)
|
rs1057518226
|
|
NM_001244008.2(KIF1A):c.806C>A (p.Ala269Asp)
|
|
|
NM_001244008.2(KIF1A):c.812T>G (p.Ile271Ser)
|
rs2126049991
|
|
NM_001244008.2(KIF1A):c.815A>G (p.Asn272Ser)
|
rs876661283
|
|
NM_001244008.2(KIF1A):c.821C>T (p.Ser274Leu)
|
rs797045655
|
|
NM_001244008.2(KIF1A):c.824T>A (p.Leu275Gln)
|
|
|
NM_001244008.2(KIF1A):c.824T>C (p.Leu275Pro)
|
rs2054279545
|
|
NM_001244008.2(KIF1A):c.829A>C (p.Thr277Pro)
|
rs879254017
|
|
NM_001244008.2(KIF1A):c.833T>C (p.Leu278Pro)
|
rs1131692159
|
|
NM_001244008.2(KIF1A):c.839A>G (p.Lys280Arg)
|
rs2054277617
|
|
NM_001244008.2(KIF1A):c.914C>T (p.Pro305Leu)
|
rs1131690804
|
|
NM_001244008.2(KIF1A):c.919C>G (p.Arg307Gly)
|
rs369692236
|
|
NM_001244008.2(KIF1A):c.920G>A (p.Arg307Gln)
|
rs1064793161
|
|
NM_001244008.2(KIF1A):c.920G>C (p.Arg307Pro)
|
rs1064793161
|
|
NM_001244008.2(KIF1A):c.925T>C (p.Ser309Pro)
|
rs879253998
|
|
NM_001244008.2(KIF1A):c.946C>T (p.Arg316Trp)
|
rs672601370
|
|
NM_001244008.2(KIF1A):c.947G>A (p.Arg316Gln)
|
rs749718096
|
|
NM_001244008.2(KIF1A):c.958+1G>C
|
rs780380861
|
|
NM_001244008.2(KIF1A):c.961G>A (p.Gly321Ser)
|
|
|
NM_001244008.2(KIF1A):c.967T>C (p.Ser323Pro)
|
rs2052422975
|
|
NM_001244008.2(KIF1A):c.989C>A (p.Ala330Asp)
|
|
|
NM_004321.8(KIF1A):c.935C>A (p.Thr312Asn)
|
rs779049732
|
|