NM_021814.5(ELOVL5):c.246+3891C>T
|
rs150583340
|
0.00704
|
NM_004993.6(ATXN3):c.916G>C (p.Gly306Arg)
|
rs12895357
|
0.00572
|
NM_001130823.3(DNMT1):c.3262G>A (p.Val1088Ile)
|
rs776461147
|
0.00006
|
NM_006946.4(SPTBN2):c.3929G>A (p.Arg1310His)
|
rs201852582
|
0.00002
|
NM_001278064.2(GRM1):c.1602G>A (p.Lys534=)
|
rs775323670
|
0.00001
|
NM_006796.3(AFG3L2):c.2065T>C (p.Tyr689His)
|
rs1598820860
|
0.00001
|
NM_006946.4(SPTBN2):c.6109C>T (p.Arg2037Cys)
|
rs200529832
|
0.00001
|
NM_007289.4(MME):c.1511A>T (p.Glu504Val)
|
rs201239248
|
0.00001
|
GRCh37/hg19 19p13.2(chr19:13418596-13419188)x1
|
|
|
NM_001020658.2(PUM1):c.2405C>T (p.Ser802Phe)
|
rs1640045849
|
|
NM_001080414.4(CCDC88C):c.1085C>T (p.Thr362Ile)
|
|
|
NM_001127222.2(CACNA1A):c.1199A>T (p.Glu400Val)
|
rs1600353470
|
|
NM_001127222.2(CACNA1A):c.1237C>T (p.Gln413Ter)
|
|
|
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met)
|
rs121908212
|
|
NM_001127222.2(CACNA1A):c.2904_2929del (p.Pro969fs)
|
rs1555755909
|
|
NM_001127222.2(CACNA1A):c.322A>G (p.Ile108Val)
|
rs1599294284
|
|
NM_001127222.2(CACNA1A):c.3692+1G>A
|
rs1315533129
|
|
NM_001127222.2(CACNA1A):c.4031T>C (p.Leu1344Pro)
|
rs2144773045
|
|
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln)
|
rs1057520918
|
|
NM_001127222.2(CACNA1A):c.4515T>G (p.Phe1505Leu)
|
rs757643322
|
|
NM_001127222.2(CACNA1A):c.4804A>G (p.Ile1602Val)
|
rs2056444576
|
|
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln)
|
rs121908247
|
|
NM_001127222.2(CACNA1A):c.5410C>T (p.Leu1804Phe)
|
|
|
NM_001127222.2(CACNA1A):c.5936A>C (p.Glu1979Ala)
|
|
|
NM_001127222.2(CACNA1A):c.7266_7271del (p.Ser2423_Gly2424del)
|
rs775428832
|
|
NM_001127222.2(CACNA1A):c.835C>T (p.Arg279Cys)
|
rs1555773764
|
|
NM_001127222.2(CACNA1A):c.877G>A (p.Gly293Arg)
|
rs121908215
|
|
NM_001378452.1(ITPR1):c.3248C>T (p.Pro1083Leu)
|
rs121912425
|
|
NM_001378452.1(ITPR1):c.3617A>G (p.Lys1206Arg)
|
|
|
NM_001378452.1(ITPR1):c.4333G>A (p.Val1445Met)
|
rs1559718601
|
|
NM_001961.4(EEF2):c.1979A>G (p.Asn660Ser)
|
rs945307250
|
|
NM_002739.5(PRKCG):c.1927T>C (p.Phe643Leu)
|
rs121918516
|
|
NM_002739.5(PRKCG):c.197G>A (p.Cys66Tyr)
|
rs1555806333
|
|
NM_002739.5(PRKCG):c.2091_*98del (p.Met697_Ter698delinsXaa)
|
rs1555808841
|
|
NM_002739.5(PRKCG):c.226C>T (p.Arg76Ter)
|
rs2068614711
|
|
NM_002739.5(PRKCG):c.285C>G (p.Asp95Glu)
|
rs17854523
|
|
NM_002739.5(PRKCG):c.301C>T (p.His101Tyr)
|
rs121918511
|
|
NM_002739.5(PRKCG):c.302A>G (p.His101Arg)
|
rs2068656783
|
|
NM_002739.5(PRKCG):c.303C>G (p.His101Gln)
|
rs121918518
|
|
NM_002739.5(PRKCG):c.353G>A (p.Gly118Asp)
|
rs121918514
|
|
NM_002739.5(PRKCG):c.383G>A (p.Gly128Asp)
|
rs121918513
|
|
NM_002739.5(PRKCG):c.391T>C (p.Cys131Arg)
|
rs386134166
|
|
NM_002739.5(PRKCG):c.392G>A (p.Cys131Tyr)
|
rs386134167
|
|
NM_002739.5(PRKCG):c.413T>A (p.Val138Glu)
|
rs386134168
|
|
NM_002739.5(PRKCG):c.767T>C (p.Met256Thr)
|
rs2068685112
|
|
NM_002739.5(PRKCG):c.76A>G (p.Arg26Gly)
|
rs386134157
|
|
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_006796.3(AFG3L2):c.1295A>C (p.Asn432Thr)
|
rs151344512
|
|
NM_006796.3(AFG3L2):c.1378G>A (p.Asp460Asn)
|
rs2143165387
|
|
NM_006796.3(AFG3L2):c.1958dup (p.Thr654fs)
|
rs2143124461
|
|
NM_006796.3(AFG3L2):c.1996A>G (p.Met666Val)
|
rs151344514
|
|
NM_006796.3(AFG3L2):c.1997T>C (p.Met666Thr)
|
rs151344515
|
|
NM_006796.3(AFG3L2):c.1997T>G (p.Met666Arg)
|
rs151344515
|
|
NM_006796.3(AFG3L2):c.2011G>A (p.Gly671Arg)
|
rs151344517
|
|
NM_006796.3(AFG3L2):c.2012G>A (p.Gly671Glu)
|
rs151344518
|
|
NM_006796.3(AFG3L2):c.2062C>A (p.Pro688Thr)
|
rs797045221
|
|
NM_006796.3(AFG3L2):c.2065T>A (p.Tyr689Asn)
|
rs1598820860
|
|
NM_006796.3(AFG3L2):c.2098G>A (p.Glu700Lys)
|
rs151344522
|
|
NM_013236.3(ATXN10):c.1173+54822_1173+54826ATTCT[280]
|
|
|
NM_015215.4(CAMTA1):c.4103_4104del (p.Glu1368fs)
|
rs1577313897
|
|
NM_015215.4(CAMTA1):c.423G>C (p.Lys141Asn)
|
rs1666321359
|
|
NM_018896.5(CACNA1G):c.1471G>T (p.Val491Phe)
|
rs201788352
|
|
NM_021814.5(ELOVL5):c.214C>G (p.Leu72Val)
|
rs587777671
|
|
NM_021814.5(ELOVL5):c.689G>T (p.Gly230Val)
|
rs587777670
|
|
NM_173500.4(TTBK2):c.1287_1288del (p.Glu429fs)
|
rs80356539
|
|
NM_173500.4(TTBK2):c.1306_1307del (p.Asp436fs)
|
rs318240735
|
|
NM_173500.4(TTBK2):c.1329dup (p.Arg444fs)
|
rs80356538
|
|