NM_001244008.2(KIF1A):c.1138C>T (p.Arg380Trp)
|
rs545501989
|
0.00001
|
NM_001244008.2(KIF1A):c.1954C>T (p.Gln652Ter)
|
rs748477031
|
0.00001
|
NM_001244008.2(KIF1A):c.2840del (p.Leu947fs)
|
rs587778791
|
0.00001
|
NM_001244008.2(KIF1A):c.499C>T (p.Arg167Cys)
|
rs672601365
|
0.00001
|
NM_001244008.2(KIF1A):c.919C>T (p.Arg307Ter)
|
rs369692236
|
0.00001
|
NC_000002.11:g.(?_241656771)_241759735del
|
|
|
NC_000002.11:g.(?_241676460)_(241686758_?)del
|
|
|
NC_000002.12:g.(?_240717364)_(240797752_?)del
|
|
|
NM_001244008.2(KIF1A):c.1031C>T (p.Thr344Met)
|
rs2125976585
|
|
NM_001244008.2(KIF1A):c.10del (p.Ala4fs)
|
rs2056562900
|
|
NM_001244008.2(KIF1A):c.1114C>G (p.Leu372Val)
|
|
|
NM_001244008.2(KIF1A):c.1693dup (p.Thr565fs)
|
|
|
NM_001244008.2(KIF1A):c.173C>T (p.Ser58Leu)
|
rs672601362
|
|
NM_001244008.2(KIF1A):c.200dup (p.Tyr67Ter)
|
|
|
NM_001244008.2(KIF1A):c.206C>T (p.Ser69Leu)
|
rs786200949
|
|
NM_001244008.2(KIF1A):c.2270_2271del (p.Gln757fs)
|
rs2125890780
|
|
NM_001244008.2(KIF1A):c.232G>A (p.Gly78Ser)
|
rs1057518760
|
|
NM_001244008.2(KIF1A):c.2350C>T (p.Arg784Ter)
|
rs1327297188
|
|
NM_001244008.2(KIF1A):c.2389G>T (p.Glu797Ter)
|
rs2125889990
|
|
NM_001244008.2(KIF1A):c.2451del (p.Leu818fs)
|
|
|
NM_001244008.2(KIF1A):c.254C>A (p.Ala85Asp)
|
rs1553639041
|
|
NM_001244008.2(KIF1A):c.265T>G (p.Tyr89Asp)
|
rs869312711
|
|
NM_001244008.2(KIF1A):c.296C>T (p.Thr99Met)
|
rs387906799
|
|
NM_001244008.2(KIF1A):c.304G>A (p.Gly102Ser)
|
rs1064795534
|
|
NM_001244008.2(KIF1A):c.3073del (p.Glu1025fs)
|
rs2125794023
|
|
NM_001244008.2(KIF1A):c.3074_3075dup (p.Cys1027fs)
|
|
|
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.361C>T (p.Gln121Ter)
|
rs1318848388
|
|
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.4324C>T (p.Gln1442Ter)
|
|
|
NM_001244008.2(KIF1A):c.4339C>T (p.Arg1447Ter)
|
rs1057519240
|
|
NM_001244008.2(KIF1A):c.4529del (p.Pro1510fs)
|
rs2125598333
|
|
NM_001244008.2(KIF1A):c.4624del (p.Leu1542fs)
|
rs2125597503
|
|
NM_001244008.2(KIF1A):c.467A>T (p.Asp156Val)
|
rs2126071766
|
|
NM_001244008.2(KIF1A):c.4700_4701del (p.Glu1567fs)
|
|
|
NM_001244008.2(KIF1A):c.4981C>T (p.Gln1661Ter)
|
rs1575514086
|
|
NM_001244008.2(KIF1A):c.5005C>T (p.Gln1669Ter)
|
|
|
NM_001244008.2(KIF1A):c.500G>A (p.Arg167His)
|
rs2054757914
|
|
NM_001244008.2(KIF1A):c.5014C>T (p.Arg1672Ter)
|
|
|
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.631A>G (p.Asn211Asp)
|
|
|
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.737T>G (p.Leu246Arg)
|
rs1575626071
|
|
NM_001244008.2(KIF1A):c.751G>A (p.Gly251Arg)
|
|
|
NM_001244008.2(KIF1A):c.757G>A (p.Glu253Lys)
|
rs672601369
|
|
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.773C>T (p.Thr258Met)
|
rs1553638086
|
|
NM_001244008.2(KIF1A):c.785_798+1del
|
rs2126054169
|
|
NM_001244008.2(KIF1A):c.798+1G>C
|
|
|
NM_001244008.2(KIF1A):c.798+2T>G
|
|
|
NM_001244008.2(KIF1A):c.799G>C (p.Glu267Gln)
|
rs1553637932
|
|
NM_001244008.2(KIF1A):c.803G>A (p.Gly268Glu)
|
rs1057518226
|
|
NM_001244008.2(KIF1A):c.805del (p.Ala269fs)
|
|
|
NM_001244008.2(KIF1A):c.812_817del (p.Ile271_Asn272del)
|
|
|
NM_001244008.2(KIF1A):c.813CAA[1] (p.Asn272del)
|
rs2054280202
|
|
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.864+1del
|
rs2126049633
|
|
NM_001244008.2(KIF1A):c.914C>T (p.Pro305Leu)
|
rs1131690804
|
|
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.934A>C (p.Thr312Pro)
|
rs2052660081
|
|
NM_001244008.2(KIF1A):c.946C>T (p.Arg316Trp)
|
rs672601370
|
|
NM_001244008.2(KIF1A):c.947G>A (p.Arg316Gln)
|
rs749718096
|
|