NM_144599.5(NIPA1):c.*2058_*2059insTT
|
rs3057642
|
0.67258
|
NM_001371279.1(REEP1):c.*2824_*2827dup
|
rs397794472
|
0.30658
|
NM_005619.5(RTN2):c.1593C>T (p.Ala531=)
|
rs148630935
|
0.00720
|
NM_005619.5(RTN2):c.1143G>A (p.Ala381=)
|
rs45532933
|
0.00572
|
NM_005619.5(RTN2):c.1168G>A (p.Gly390Ser)
|
rs143937661
|
0.00242
|
NM_014946.4(SPAST):c.*1544dup
|
rs542086083
|
0.00210
|
NM_144599.5(NIPA1):c.*1007dup
|
rs548458173
|
0.00118
|
NM_014846.4(WASHC5):c.*40del
|
rs550928439
|
0.00074
|
NM_144599.5(NIPA1):c.*1190_*1191del
|
rs764504513
|
0.00040
|
NM_002156.4(HSPD1):c.-66T>C
|
rs34519984
|
0.00014
|
NM_005619.5(RTN2):c.*217G>A
|
rs886054502
|
0.00013
|
NM_144599.4(NIPA1):c.-19G>A
|
rs886051009
|
0.00011
|
NM_014946.4(SPAST):c.*2999dup
|
rs886055984
|
0.00010
|
NM_144599.5(NIPA1):c.*5395_*5396del
|
rs886050987
|
0.00010
|
NM_144599.5(NIPA1):c.*3127G>A
|
rs547238314
|
0.00007
|
NM_144599.5(NIPA1):c.*3316T>C
|
rs527532188
|
0.00006
|
NM_144599.5(NIPA1):c.537C>T (p.Ile179=)
|
rs547634456
|
0.00006
|
NM_015915.5(ATL1):c.969G>C (p.Arg323=)
|
rs753145983
|
0.00004
|
NM_002156.4(HSPD1):c.-128C>G
|
rs886055390
|
0.00003
|
NM_014946.4(SPAST):c.*11T>C
|
rs753913367
|
0.00002
|
NM_001371279.1(REEP1):c.*1020CA[2]
|
rs886056408
|
|
NM_001371279.1(REEP1):c.*165del
|
rs59345004
|
|
NM_001371279.1(REEP1):c.*1992del
|
rs886056404
|
|
NM_001371279.1(REEP1):c.*2014_*2016del
|
rs886056403
|
|
NM_001371279.1(REEP1):c.*2015_*2016del
|
rs1553455537
|
|
NM_001371279.1(REEP1):c.*2015del
|
rs11350708
|
|
NM_001371279.1(REEP1):c.*2016_*2017insA
|
rs886056400
|
|
NM_001371279.1(REEP1):c.*2016del
|
rs886056401
|
|
NM_001371279.1(REEP1):c.*2022del
|
rs886056399
|
|
NM_001371279.1(REEP1):c.*2049dup
|
rs200132323
|
|
NM_001371279.1(REEP1):c.*2050_*2051insT
|
rs886056398
|
|
NM_001371279.1(REEP1):c.*389CA[1]
|
rs886056409
|
|
NM_001371279.1(REEP1):c.-44AGCCG[3]
|
rs544099237
|
|
NM_001385875.1(ZFYVE27):c.*1229dup
|
rs373113574
|
|
NM_002156.5(HSPD1):c.*18dup
|
rs777031722
|
|
NM_004733.4(SLC33A1):c.*1673_*1676del
|
rs143606890
|
|
NM_004733.4(SLC33A1):c.*582_*583del
|
rs762573505
|
|
NM_004733.4(SLC33A1):c.*893del
|
rs886058103
|
|
NM_004984.4(KIF5A):c.*422GCAC[2]
|
rs150797197
|
|
NM_004984.4(KIF5A):c.*422GCAC[4]
|
rs150797197
|
|
NM_004984.4(KIF5A):c.-193G>A
|
rs886049699
|
|
NM_005619.5(RTN2):c.1381-12del
|
rs537146226
|
|
NM_014846.4(WASHC5):c.*269_*270del
|
rs199912701
|
|
NM_014846.4(WASHC5):c.-124-11dup
|
rs886062656
|
|
NM_014846.4(WASHC5):c.3423+12_3423+15del
|
rs774994568
|
|
NM_014946.4(SPAST):c.*1231_*1233del
|
rs376420990
|
|
NM_014946.4(SPAST):c.*1543_*1544insT
|
rs751815134
|
|
NM_014946.4(SPAST):c.*2164_*2165insGAG
|
rs3040810
|
|
NM_014946.4(SPAST):c.*244_*247del
|
rs201733642
|
|
NM_014946.4(SPAST):c.*372TTGT[2]
|
rs756347073
|
|
NM_014946.4(SPAST):c.*603TGT[1]
|
rs142605868
|
|
NM_014946.4(SPAST):c.*815_*828delinsAAC
|
rs886055971
|
|
NM_014946.4(SPAST):c.-104_-102del
|
rs886055960
|
|
NM_014946.4(SPAST):c.-176C>T
|
rs886055958
|
|
NM_014946.4(SPAST):c.586+9_586+12del
|
rs554544808
|
|
NM_144599.5(NIPA1):c.*1845_*1846dup
|
rs113532349
|
|
NM_144599.5(NIPA1):c.*1846dup
|
rs113532349
|
|
NM_144599.5(NIPA1):c.*1925_*1929del
|
rs199507682
|
|
NM_144599.5(NIPA1):c.*2727dup
|
rs746846799
|
|
NM_144599.5(NIPA1):c.*2816del
|
rs140112208
|
|
NM_144599.5(NIPA1):c.*3112dup
|
rs556665515
|
|
NM_144599.5(NIPA1):c.*435_*436del
|
rs10611411
|
|
NM_144599.5(NIPA1):c.*5474_*5477del
|
rs747886565
|
|
NM_144599.5(NIPA1):c.24GGC[10] (p.Ala15_Ala16dup)
|
rs531550505
|
|
NM_144599.5(NIPA1):c.24GGC[7] (p.Ala16del)
|
rs531550505
|
|