NM_213720.3(CHCHD10):c.100C>T (p.Pro34Ser)
|
rs551521196
|
0.00237
|
NM_025137.4(SPG11):c.5121G>T (p.Glu1707Asp)
|
rs145643238
|
0.00103
|
NM_007375.4(TARDBP):c.269C>T (p.Ala90Val)
|
rs80356715
|
0.00022
|
NM_014043.4(CHMP2B):c.85A>G (p.Ile29Val)
|
rs63750818
|
0.00020
|
NM_213720.3(CHCHD10):c.239C>T (p.Pro80Leu)
|
rs775332895
|
0.00016
|
NM_025137.4(SPG11):c.328A>G (p.Asn110Asp)
|
rs139498464
|
0.00011
|
NM_025137.4(SPG11):c.4365G>C (p.Trp1455Cys)
|
rs138103656
|
0.00011
|
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro)
|
rs201689565
|
0.00011
|
NM_025137.4(SPG11):c.5599G>A (p.Glu1867Lys)
|
rs372419484
|
0.00008
|
NM_025137.4(SPG11):c.733_734del (p.Met245fs)
|
rs312262720
|
0.00005
|
NM_000454.5(SOD1):c.14C>T (p.Ala5Val)
|
rs121912442
|
0.00004
|
NM_007375.4(TARDBP):c.*83T>C
|
rs80356744
|
0.00004
|
NM_007375.4(TARDBP):c.1144G>A (p.Ala382Thr)
|
rs367543041
|
0.00003
|
NM_007375.4(TARDBP):c.800A>G (p.Asn267Ser)
|
rs80356718
|
0.00003
|
NM_015046.7(SETX):c.2411T>C (p.Leu804Ser)
|
rs201096140
|
0.00003
|
NM_015046.7(SETX):c.2755G>C (p.Val919Leu)
|
rs561190371
|
0.00003
|
NM_004082.5(DCTN1):c.2477C>T (p.Thr826Met)
|
rs766585070
|
0.00002
|
NM_025137.4(SPG11):c.5696G>A (p.Arg1899Gln)
|
rs768303307
|
0.00002
|
NM_007375.4(TARDBP):c.1009A>G (p.Met337Val)
|
rs80356730
|
0.00001
|
NM_007375.4(TARDBP):c.859G>A (p.Gly287Ser)
|
rs80356719
|
0.00001
|
NM_007375.4(TARDBP):c.881G>T (p.Gly294Val)
|
rs80356721
|
0.00001
|
NM_014043.4(CHMP2B):c.556C>T (p.Arg186Ter)
|
rs63751048
|
0.00001
|
NM_014043.4(CHMP2B):c.94C>T (p.Arg32Ter)
|
rs763615051
|
0.00001
|
NM_025137.4(SPG11):c.2612dup (p.Ser871fs)
|
rs750101275
|
0.00001
|
NM_002973.4(ATXN2):c.16CAG[22_31] (p.6Gln[22_31])
|
rs1885090126
|
|
NM_002973.4(ATXN2):c.16CAG[33_?] (p.6Gln[33_?])
|
rs1885090126
|
|
NM_004082.5(DCTN1):c.1504C>T (p.Arg502Cys)
|
rs145958900
|
|
NM_004082.5(DCTN1):c.1807C>A (p.His603Asn)
|
rs1558939544
|
|
NM_004082.5(DCTN1):c.874C>T (p.Arg292Cys)
|
rs1200414397
|
|
NM_007375.4(TARDBP):c.1042G>T (p.Gly348Cys)
|
rs80356733
|
|
NM_007375.4(TARDBP):c.1055A>G (p.Asn352Ser)
|
rs80356734
|
|
NM_007375.4(TARDBP):c.1121dup (p.Tyr374Ter)
|
rs80356737
|
|
NM_007375.4(TARDBP):c.1150G>C (p.Gly384Arg)
|
rs797044594
|
|
NM_007375.4(TARDBP):c.1153T>G (p.Trp385Gly)
|
rs797044595
|
|
NM_007375.4(TARDBP):c.506A>G (p.Asp169Gly)
|
rs80356717
|
|
NM_007375.4(TARDBP):c.883G>A (p.Gly295Ser)
|
rs80356723
|
|
NM_007375.4(TARDBP):c.892G>A (p.Gly298Ser)
|
rs4884357
|
|
NM_007375.4(TARDBP):c.943G>A (p.Ala315Thr)
|
rs80356726
|
|
NM_013254.4(TBK1):c.1387_1388del (p.Glu463fs)
|
rs1555204731
|
|
NM_014043.4(CHMP2B):c.311C>A (p.Thr104Asn)
|
rs281864934
|
|
NM_014043.4(CHMP2B):c.442G>T (p.Asp148Tyr)
|
rs63750653
|
|
NM_014043.4(CHMP2B):c.493C>T (p.Gln165Ter)
|
rs63750355
|
|
NM_014043.4(CHMP2B):c.532-1G>A
|
rs63750652
|
|
NM_014043.4(CHMP2B):c.618A>C (p.Gln206His)
|
rs63751126
|
|
NM_021625.5(TRPV4):c.2246C>G (p.Pro749Arg)
|
rs1555205050
|
|
NM_025137.4(SPG11):c.4402C>G (p.Pro1468Ala)
|
rs2083030697
|
|
NM_025137.4(SPG11):c.4432C>T (p.Gln1478Ter)
|
rs2140971559
|
|
NM_025137.4(SPG11):c.5989_5992del (p.Leu1997fs)
|
rs312262776
|
|
NM_025137.4(SPG11):c.5990T>A (p.Leu1997Gln)
|
rs879367729
|
|
NM_025137.4(SPG11):c.7324G>C (p.Ala2442Pro)
|
rs765644977
|
|