NM_015046.7(SETX):c.2975A>G (p.Lys992Arg)
|
rs61742937
|
0.01445
|
NM_014946.4(SPAST):c.1735A>C (p.Asn579His)
|
rs144594804
|
0.00031
|
NM_001244008.2(KIF1A):c.882+8G>A
|
rs376552408
|
0.00019
|
NM_004820.5(CYP7B1):c.334C>T (p.Arg112Ter)
|
rs200737038
|
0.00007
|
NM_001003800.2(BICD2):c.2515G>A (p.Gly839Arg)
|
rs756910200
|
0.00004
|
NM_014846.4(WASHC5):c.2752C>T (p.Pro918Ser)
|
rs367744328
|
0.00004
|
NM_014946.4(SPAST):c.1808C>T (p.Ala603Val)
|
rs368801051
|
0.00004
|
NM_020944.3(GBA2):c.644G>A (p.Arg215His)
|
rs748828496
|
0.00004
|
NM_144599.5(NIPA1):c.109G>A (p.Val37Met)
|
rs772029587
|
0.00004
|
NM_001003800.2(BICD2):c.691C>T (p.Arg231Cys)
|
rs754659441
|
0.00003
|
NM_001199753.2(CPT1C):c.2272G>A (p.Val758Met)
|
rs757561909
|
0.00002
|
NM_004820.5(CYP7B1):c.1220T>C (p.Phe407Ser)
|
rs769450032
|
0.00002
|
NM_020944.3(GBA2):c.940C>T (p.Arg314Cys)
|
rs1000532303
|
0.00002
|
NM_001012301.4(ARSI):c.1006C>T (p.Arg336Ter)
|
rs754812781
|
0.00001
|
NM_004820.5(CYP7B1):c.1355G>A (p.Arg452Gln)
|
rs775806979
|
0.00001
|
NM_020944.3(GBA2):c.1905G>A (p.Thr635=)
|
rs369401526
|
0.00001
|
NC_000002.11:g.(86479194_86481816)_(86565146_86564634)dup
|
|
|
NC_000002.11:g.(86491165_86509292)_(86509366_86565146)dup
|
|
|
NM_001199753.2(CPT1C):c.1325C>G (p.Ala442Gly)
|
rs2123423148
|
|
NM_001244008.2(KIF1A):c.1498-3C>A
|
rs1191854158
|
|
NM_001244008.2(KIF1A):c.2750_2751insTGAGGAGGAGGA (p.Glu916_Glu917insAspGluGluGlu)
|
rs878988727
|
|
NM_001244008.2(KIF1A):c.865-24CT[2]
|
rs140674901
|
|
NM_001371279.1(REEP1):c.145A>C (p.Thr49Pro)
|
rs1433490355
|
|
NM_001371279.1(REEP1):c.419G>T (p.Gly140Val)
|
rs2104054884
|
|
NM_001371279.1(REEP1):c.445C>T (p.Arg149Trp)
|
rs771715116
|
|
NM_004733.4(SLC33A1):c.3G>A (p.Met1Ile)
|
rs2108019676
|
|
NM_004820.5(CYP7B1):c.1163G>A (p.Arg388Gln)
|
rs1394828774
|
|
NM_004984.4(KIF5A):c.1590del (p.Glu530fs)
|
rs2140165538
|
|
NM_004984.4(KIF5A):c.340_357dup (p.Arg114_His119dup)
|
rs2140159152
|
|
NM_004984.4(KIF5A):c.547G>T (p.Val183Leu)
|
rs2140161239
|
|
NM_014946.4(SPAST):c.109G>T (p.Gly37Trp)
|
rs771455657
|
|
NM_014946.4(SPAST):c.1174-14T>A
|
rs2148746281
|
|
NM_014946.4(SPAST):c.1649C>T (p.Thr550Ile)
|
rs1553319537
|
|
NM_014946.4(SPAST):c.1691_1702del
|
|
|
NM_014946.4(SPAST):c.1699G>A (p.Glu567Lys)
|
rs2148762782
|
|
NM_014946.4(SPAST):c.1784G>A (p.Ser595Asn)
|
rs2148769328
|
|
NM_014946.4(SPAST):c.352G>C (p.Val118Leu)
|
rs1676413433
|
|
NM_014946.4(SPAST):c.493A>G (p.Thr165Ala)
|
rs770141489
|
|
NM_014946.4(SPAST):c.818C>G (p.Ser273Cys)
|
rs767688964
|
|
NM_014946.4(SPAST):c.830G>T (p.Gly277Val)
|
rs1678761963
|
|
NM_014946.4(SPAST):c.936A>C (p.Lys312Asn)
|
rs1465167029
|
|
NM_014946.4(SPAST):c.950T>C (p.Phe317Ser)
|
rs759832933
|
|
NM_015346.4(ZFYVE26):c.1129del (p.Cys377fs)
|
rs2140250002
|
|
NM_015346.4(ZFYVE26):c.7010A>G (p.Gln2337Arg)
|
rs2140183205
|
|
NM_020944.3(GBA2):c.617T>C (p.Leu206Pro)
|
rs1160145071
|
|
NM_025243.4(SLC19A3):c.150+1143C>G
|
rs768902061
|
|