NM_000784.4(CYP27A1):c.438G>A (p.Pro146=)
|
rs692003
|
0.06494
|
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu)
|
rs41272687
|
0.01478
|
NM_021814.5(ELOVL5):c.246+3891C>T
|
rs150583340
|
0.00704
|
NM_004993.6(ATXN3):c.916G>C (p.Gly306Arg)
|
rs12895357
|
0.00572
|
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys)
|
rs121908096
|
0.00031
|
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His)
|
rs587778778
|
0.00011
|
NM_000784.4(CYP27A1):c.379C>T (p.Arg127Trp)
|
rs201114717
|
0.00010
|
NM_000784.4(CYP27A1):c.1184+1G>A
|
rs587778777
|
0.00009
|
NM_002739.5(PRKCG):c.2075T>G (p.Val692Gly)
|
rs78437096
|
0.00007
|
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln)
|
rs587778818
|
0.00004
|
NM_000784.4(CYP27A1):c.845-1G>A
|
rs397515353
|
0.00004
|
NM_000784.4(CYP27A1):c.1263+1G>A
|
rs397515355
|
0.00003
|
NM_000784.4(CYP27A1):c.1421G>A (p.Arg474Gln)
|
rs121908097
|
0.00003
|
NM_000784.4(CYP27A1):c.380G>A (p.Arg127Gln)
|
rs376230356
|
0.00003
|
NM_000784.4(CYP27A1):c.1213C>T (p.Arg405Trp)
|
rs573951598
|
0.00001
|
NM_000784.4(CYP27A1):c.1263+5G>T
|
rs587778784
|
0.00001
|
NM_000784.4(CYP27A1):c.1415G>C (p.Gly472Ala)
|
rs200883871
|
0.00001
|
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp)
|
rs121908098
|
0.00001
|
NM_000784.4(CYP27A1):c.409C>T (p.Arg137Trp)
|
rs72551312
|
0.00001
|
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=)
|
rs587778796
|
0.00001
|
NM_000784.4(CYP27A1):c.446+1G>A
|
rs587778797
|
0.00001
|
NM_000784.4(CYP27A1):c.475C>T (p.Gln159Ter)
|
rs72551314
|
0.00001
|
NM_000784.4(CYP27A1):c.646G>C (p.Ala216Pro)
|
rs201346271
|
0.00001
|
NM_000784.4(CYP27A1):c.691C>T (p.Arg231Ter)
|
rs72551315
|
0.00001
|
NM_000784.4(CYP27A1):c.745C>T (p.Gln249Ter)
|
rs72551316
|
0.00001
|
NM_000784.4(CYP27A1):c.776A>G (p.Lys259Arg)
|
rs72551317
|
0.00001
|
NM_006796.3(AFG3L2):c.2065T>C (p.Tyr689His)
|
rs1598820860
|
0.00001
|
NM_000784.4(CYP27A1):c.1017G>C (p.Thr339=)
|
rs200553205
|
|
NM_000784.4(CYP27A1):c.1061A>G (p.Asp354Gly)
|
rs72551320
|
|
NM_000784.4(CYP27A1):c.1183C>A (p.Arg395Ser)
|
rs121908096
|
|
NM_000784.4(CYP27A1):c.1185-1G>T
|
rs587778779
|
|
NM_000784.4(CYP27A1):c.1202C>G (p.Pro401Arg)
|
rs587778780
|
|
NM_000784.4(CYP27A1):c.1209C>G (p.Asn403Lys)
|
rs587778781
|
|
NM_000784.4(CYP27A1):c.1222G>T (p.Glu408Ter)
|
rs587778782
|
|
NM_000784.4(CYP27A1):c.1238T>A (p.Val413Asp)
|
rs587778783
|
|
NM_000784.4(CYP27A1):c.1264-1G>A
|
rs587778785
|
|
NM_000784.4(CYP27A1):c.1402C>T (p.Pro468Ser)
|
rs587778787
|
|
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly)
|
rs72551322
|
|
NM_000784.4(CYP27A1):c.1435C>T (p.Arg479Cys)
|
rs72551322
|
|
NM_000784.4(CYP27A1):c.305del (p.Pro102fs)
|
rs587778790
|
|
NM_000784.4(CYP27A1):c.355del (p.Arg119fs)
|
rs587778793
|
|
NM_000784.4(CYP27A1):c.366= (p.Gly122=)
|
rs1051087
|
|
NM_000784.4(CYP27A1):c.373_379del (p.Pro125fs)
|
rs587778794
|
|
NM_000784.4(CYP27A1):c.399G>A (p.Trp133Ter)
|
rs1160640803
|
|
NM_000784.4(CYP27A1):c.433G>A (p.Gly145Arg)
|
rs587778795
|
|
NM_000784.4(CYP27A1):c.434G>A (p.Gly145Glu)
|
rs72551313
|
|
NM_000784.4(CYP27A1):c.526del (p.Asp176fs)
|
rs765512351
|
|
NM_000784.4(CYP27A1):c.583G>T (p.Glu195Ter)
|
rs587778800
|
|
NM_000784.4(CYP27A1):c.5dup (p.Ala3fs)
|
rs587778802
|
|
NM_000784.4(CYP27A1):c.647-1G>T
|
rs587778804
|
|
NM_000784.4(CYP27A1):c.73del (p.Ala25fs)
|
rs587778807
|
|
NM_000784.4(CYP27A1):c.752C>A (p.Ser251Ter)
|
rs587778808
|
|
NM_000784.4(CYP27A1):c.779G>A (p.Trp260Ter)
|
rs587778810
|
|
NM_000784.4(CYP27A1):c.808C>T (p.Arg270Ter)
|
rs72551318
|
|
NM_000784.4(CYP27A1):c.819del (p.Asp273fs)
|
rs587778812
|
|
NM_000784.4(CYP27A1):c.844+1G>A
|
rs397515354
|
|
NM_000784.4(CYP27A1):c.852G>A (p.Lys284=)
|
rs587778814
|
|
NM_000784.4(CYP27A1):c.863del (p.Glu288fs)
|
rs587778815
|
|
NM_000784.4(CYP27A1):c.944_948del (p.Leu315fs)
|
rs397515356
|
|
NM_001007026.1(ATN1):c.1462CAG[(6_35)] (p.Gln488[(6-35)])
|
|
|
NM_001007026.1(ATN1):c.1462CAG[(90_93)] (p.Gln488[(90-93)])
|
|
|
NM_001007026.1(ATN1):c.1462CAG[49_55] (p.Gln488[49_55])
|
rs60216939
|
|
NM_001378452.1(ITPR1):c.3248C>T (p.Pro1083Leu)
|
rs121912425
|
|
NM_002739.5(PRKCG):c.1078G>A (p.Gly360Ser)
|
rs386134171
|
|
NM_002739.5(PRKCG):c.1081A>G (p.Ser361Gly)
|
rs121918517
|
|
NM_002739.5(PRKCG):c.122G>C (p.Arg41Pro)
|
rs386134158
|
|
NM_002739.5(PRKCG):c.188G>T (p.Gly63Val)
|
rs386134159
|
|
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.229T>A (p.Cys77Ser)
|
rs386134160
|
|
NM_002739.5(PRKCG):c.285C>G (p.Asp95Glu)
|
rs17854523
|
|
NM_002739.5(PRKCG):c.300_305del (p.His101_Lys102del)
|
rs386134161
|
|
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.341G>A (p.Cys114Tyr)
|
rs386134162
|
|
NM_002739.5(PRKCG):c.353G>A (p.Gly118Asp)
|
rs121918514
|
|
NM_002739.5(PRKCG):c.355T>C (p.Ser119Pro)
|
rs121918512
|
|
NM_002739.5(PRKCG):c.356C>T (p.Ser119Phe)
|
rs386134163
|
|
NM_002739.5(PRKCG):c.367G>A (p.Gly123Arg)
|
rs386134164
|
|
NM_002739.5(PRKCG):c.368G>A (p.Gly123Glu)
|
rs386134165
|
|
NM_002739.5(PRKCG):c.380A>G (p.Gln127Arg)
|
rs121918515
|
|
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.417C>A (p.His139Gln)
|
rs386134169
|
|
NM_002739.5(PRKCG):c.449_450delinsTT (p.Cys150Phe)
|
rs386134170
|
|
NM_002739.5(PRKCG):c.530_919del
|
|
|
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_004993.5(ATXN3):c.886_888CAG(12_44) (p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)
|
|
|
NM_004993.5(ATXN3):c.886_888CAG(60_86) (p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)
|
|
|
NM_006392.3(NOP56):c.3+71_3+76GGCCTG(3_14)
|
|
|
NM_006392.4(NOP56):c.3+71GGCCTG[(650_?)]
|
|
|
NM_006796.3(AFG3L2):c.1295A>C (p.Asn432Thr)
|
rs151344512
|
|
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(360_370)
|
|
|
NM_013236.3(ATXN10):c.1173+54822_1173+54826ATTCT(400_760)
|
|
|
NM_013236.3(ATXN10):c.1173+54822_1173+54826ATTCT(800_4500)
|
|
|
NM_013236.3(ATXN10):c.1173+54822_1173+54826ATTCT[280]
|
|
|
NM_013236.3(ATXN10):c.1173+54822_1173+54826ATTCT[850]
|
|
|
NM_013236.5(ATXN10):c.1173+54822_1173ATTCT[10_32]
|
rs60726084
|
|
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
|
|
Single allele
|
|
|
c.10_11 ins10bp
|
|
|
c.1180-1181delCT
|
|
|
c.1263+81_1596+?del
|
|
|
c.1323C>T
|
|
|
c.1330-1333delTTCC
|
|
|
c.599C>T
|
|
|