NM_025137.4(SPG11):c.16G>A (p.Gly6Arg)
|
rs200573434
|
0.00145
|
NM_007126.5(VCP):c.1584C>T (p.Ala528=)
|
rs147623367
|
0.00064
|
NM_007126.5(VCP):c.*4G>T
|
rs201091341
|
0.00052
|
NM_025137.4(SPG11):c.2897G>A (p.Arg966His)
|
rs200281262
|
0.00019
|
NM_025137.4(SPG11):c.7132T>C (p.Phe2378Leu)
|
rs150571352
|
0.00009
|
NM_025137.4(SPG11):c.5966A>G (p.Asn1989Ser)
|
rs375896392
|
0.00008
|
NM_005235.3(ERBB4):c.2192C>T (p.Thr731Met)
|
rs374970657
|
0.00007
|
NM_003900.5(SQSTM1):c.1231G>A (p.Gly411Ser)
|
rs143511494
|
0.00006
|
NM_015046.7(SETX):c.658A>C (p.Lys220Gln)
|
rs761180215
|
0.00006
|
NM_001378743.1(CYLD):c.59T>G (p.Ile20Ser)
|
rs764097337
|
0.00004
|
NM_007375.4(TARDBP):c.800A>G (p.Asn267Ser)
|
rs80356718
|
0.00003
|
NM_025137.4(SPG11):c.2834+1G>T
|
rs312262749
|
0.00003
|
NM_025137.4(SPG11):c.6952C>T (p.Arg2318Cys)
|
rs377341108
|
0.00003
|
NM_001378743.1(CYLD):c.1933G>A (p.Val645Ile)
|
rs587778223
|
0.00002
|
NM_001378743.1(CYLD):c.2299A>T (p.Lys767Ter)
|
rs886040888
|
0.00001
|
NM_004738.5(VAPB):c.493G>A (p.Glu165Lys)
|
rs772254840
|
0.00001
|
NM_015046.7(SETX):c.3332T>G (p.Leu1111Trp)
|
rs1564541841
|
0.00001
|
NM_025137.4(SPG11):c.250T>C (p.Phe84Leu)
|
rs749011406
|
0.00001
|
NM_025137.4(SPG11):c.4888G>T (p.Glu1630Ter)
|
rs368276916
|
0.00001
|
NM_025137.4(SPG11):c.5059G>A (p.Ala1687Thr)
|
rs779161014
|
0.00001
|
NM_025137.4(SPG11):c.6468T>C (p.Tyr2156=)
|
rs146240471
|
0.00001
|
NM_000454.5(SOD1):c.230A>T (p.Asp77Val)
|
rs1568810316
|
|
NM_001378743.1(CYLD):c.1008A>C (p.Lys336Asn)
|
|
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NM_001378743.1(CYLD):c.1016C>T (p.Ala339Val)
|
|
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NM_001378743.1(CYLD):c.1078G>C (p.Gly360Arg)
|
|
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NM_001378743.1(CYLD):c.1111del (p.Ser371fs)
|
|
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NM_001378743.1(CYLD):c.1112C>A (p.Ser371Ter)
|
rs886040872
|
|
NM_001378743.1(CYLD):c.1141G>T (p.Ala381Ser)
|
|
|
NM_001378743.1(CYLD):c.1151C>T (p.Pro384Leu)
|
|
|
NM_001378743.1(CYLD):c.1166C>G (p.Thr389Arg)
|
rs200759332
|
|
NM_001378743.1(CYLD):c.1190G>A (p.Arg397His)
|
|
|
NM_001378743.1(CYLD):c.1249C>T (p.His417Tyr)
|
|
|
NM_001378743.1(CYLD):c.125C>T (p.Pro42Leu)
|
|
|
NM_001378743.1(CYLD):c.1289A>G (p.Asn430Ser)
|
|
|
NM_001378743.1(CYLD):c.1331C>G (p.Ser444Cys)
|
|
|
NM_001378743.1(CYLD):c.1402C>T (p.His468Tyr)
|
|
|
NM_001378743.1(CYLD):c.1433T>C (p.Val478Ala)
|
|
|
NM_001378743.1(CYLD):c.157C>T (p.Arg53Cys)
|
|
|
NM_001378743.1(CYLD):c.1763T>C (p.Ile588Thr)
|
|
|
NM_001378743.1(CYLD):c.1827-3C>A
|
|
|
NM_001378743.1(CYLD):c.208A>G (p.Ile70Val)
|
|
|
NM_001378743.1(CYLD):c.2172A>C (p.Lys724Asn)
|
|
|
NM_001378743.1(CYLD):c.241G>T (p.Val81Phe)
|
|
|
NM_001378743.1(CYLD):c.2434A>G (p.Lys812Glu)
|
|
|
NM_001378743.1(CYLD):c.2462A>G (p.Asn821Ser)
|
|
|
NM_001378743.1(CYLD):c.2465C>T (p.Thr822Ile)
|
rs775394735
|
|
NM_001378743.1(CYLD):c.2578G>C (p.Glu860Gln)
|
|
|
NM_001378743.1(CYLD):c.2644G>A (p.Asp882Asn)
|
|
|
NM_001378743.1(CYLD):c.2650G>T (p.Ala884Ser)
|
|
|
NM_001378743.1(CYLD):c.274A>G (p.Ile92Val)
|
|
|
NM_001378743.1(CYLD):c.285G>C (p.Lys95Asn)
|
|
|
NM_001378743.1(CYLD):c.421A>C (p.Lys141Gln)
|
|
|
NM_001378743.1(CYLD):c.439C>T (p.Arg147Cys)
|
|
|
NM_001378743.1(CYLD):c.467G>A (p.Arg156Lys)
|
|
|
NM_001378743.1(CYLD):c.55C>T (p.Arg19Trp)
|
|
|
NM_001378743.1(CYLD):c.608A>C (p.Glu203Ala)
|
|
|
NM_001378743.1(CYLD):c.611T>C (p.Leu204Pro)
|
|
|
NM_001378743.1(CYLD):c.635T>C (p.Leu212Ser)
|
|
|
NM_001378743.1(CYLD):c.640A>G (p.Ser214Gly)
|
|
|
NM_001378743.1(CYLD):c.649G>A (p.Ala217Thr)
|
|
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NM_001378743.1(CYLD):c.680T>C (p.Leu227Pro)
|
|
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NM_001378743.1(CYLD):c.685C>T (p.Pro229Ser)
|
|
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NM_001378743.1(CYLD):c.694A>G (p.Ile232Val)
|
|
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NM_001378743.1(CYLD):c.70C>T (p.Leu24Phe)
|
|
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NM_001378743.1(CYLD):c.727A>G (p.Thr243Ala)
|
|
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NM_001378743.1(CYLD):c.761T>G (p.Val254Gly)
|
|
|
NM_001378743.1(CYLD):c.841G>A (p.Asp281Asn)
|
|
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NM_001378743.1(CYLD):c.956T>G (p.Leu319Arg)
|
|
|
NM_001761.3(CCNF):c.205C>T (p.His69Tyr)
|
|
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NM_004960.4(FUS):c.1573C>T (p.Pro525Ser)
|
|
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NM_005866.4(SIGMAR1):c.283dup (p.Leu95fs)
|
rs780136067
|
|
NM_006000.3(TUBA4A):c.1243G>A (p.Glu415Lys)
|
|
|
NM_007375.4(TARDBP):c.623G>A (p.Arg208Gln)
|
rs1219922877
|
|
NM_013254.4(TBK1):c.1153G>T (p.Glu385Ter)
|
rs765106259
|
|
NM_013254.4(TBK1):c.1588G>A (p.Gly530Arg)
|
rs2040916858
|
|
NM_015046.7(SETX):c.5054C>G (p.Ser1685Cys)
|
rs1846780010
|
|
NM_020919.4(ALS2):c.4064del (p.Gln1355fs)
|
|
|
NM_025137.4(SPG11):c.276_285del (p.Arg93fs)
|
rs747220413
|
|
NM_025137.4(SPG11):c.3074_3077del (p.Lys1025fs)
|
rs746971952
|
|
NM_025137.4(SPG11):c.3989A>G (p.Gln1330Arg)
|
rs2083094391
|
|
NM_025137.4(SPG11):c.6091C>T (p.Arg2031Ter)
|
rs147713329
|
|
NM_025137.4(SPG11):c.6899T>G (p.Leu2300Arg)
|
rs371334506
|
|