NM_001080414.4(CCDC88C):c.1391G>A (p.Arg464His)
|
rs587782989
|
0.00011
|
NM_198994.3(TGM6):c.980A>G (p.Asp327Gly)
|
rs387907098
|
0.00010
|
NM_024411.5(PDYN):c.414G>T (p.Arg138Ser)
|
rs267606941
|
0.00008
|
NM_198994.3(TGM6):c.1550T>G (p.Leu517Trp)
|
rs387907097
|
0.00006
|
NM_001114748.2(TMEM240):c.346C>T (p.Arg116Cys)
|
rs606231453
|
0.00005
|
NM_198994.3(TGM6):c.1528G>C (p.Asp510His)
|
rs201964784
|
0.00005
|
NM_198994.3(TGM6):c.331C>T (p.Arg111Cys)
|
rs372250159
|
0.00004
|
NM_001114748.2(TMEM240):c.239C>T (p.Thr80Met)
|
rs606231454
|
0.00003
|
NM_001114748.2(TMEM240):c.511C>T (p.Arg171Trp)
|
rs606231455
|
0.00002
|
NM_001020658.2(PUM1):c.3103A>T (p.Thr1035Ser)
|
rs771145682
|
0.00001
|
NM_001130698.2(TRPC3):c.2285G>A (p.Arg762His)
|
rs142339351
|
0.00001
|
NM_001447.3(FAT2):c.10758G>C (p.Lys3586Asn)
|
rs770597316
|
0.00001
|
NM_001447.3(FAT2):c.10946G>A (p.Arg3649Gln)
|
rs201335279
|
0.00001
|
NM_002522.4(NPTX1):c.1165G>A (p.Gly389Arg)
|
rs1466750124
|
0.00001
|
NM_005861.4(STUB1):c.823_824del (p.Leu275fs)
|
rs748984540
|
0.00001
|
NM_006796.3(AFG3L2):c.2105G>A (p.Arg702Gln)
|
rs151344523
|
0.00001
|
NM_012268.4(PLD3):c.923T>C (p.Leu308Pro)
|
rs537053537
|
0.00001
|
NM_020680.4(SCYL1):c.1230+1G>A
|
rs864309666
|
0.00001
|
NM_020680.4(SCYL1):c.1636C>T (p.Gln546Ter)
|
rs864309667
|
0.00001
|
NM_024411.5(PDYN):c.632T>C (p.Leu211Ser)
|
rs267606940
|
0.00001
|
NM_024411.5(PDYN):c.634C>T (p.Arg212Trp)
|
rs201486601
|
0.00001
|
NM_024411.5(PDYN):c.643C>T (p.Arg215Cys)
|
rs267606939
|
0.00001
|
NC_000001.10:g.57832716_57832797ins[(ATTTT)60-79(ATTTC)31-75(ATTTT)58-90]
|
|
|
NC_000001.10:g.6882372_7422115dup
|
|
|
NC_000001.10:g.7119268_7200395del
|
|
|
NC_000001.9:g.6777038_6826186del
|
|
|
NC_000003.12:g.(4480596_4480597)_(4793914_4793915)del
|
|
|
NG_008047.1:g.17267CAG[(54-68)]
|
|
|
NG_008165.1:g.12526CAR[46_?]
|
|
|
NG_008227.1:g.53130CAG[(38_130)]
|
|
|
NG_008317.3:g.245717TTC[250_?]
|
|
|
NG_021403.2:g.68486_68487insN[2500_3800]
|
|
|
NM_000332.4(ATXN1):c.589CAG[36_38] (p.Gln208[36_38])
|
rs193922926
|
|
NM_000333.4:c.89ACG[7_17]
|
rs193922929
|
|
NM_001114748.2(TMEM240):c.489C>G (p.Tyr163Ter)
|
rs606231452
|
|
NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu)
|
rs606231451
|
|
NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln)
|
rs121908217
|
|
NM_001127222.2(CACNA1A):c.5123T>C (p.Ile1708Thr)
|
rs121909326
|
|
NM_001127222.2(CACNA1A):c.6937CAG[(21_30)]
|
|
|
NM_001127222.2(CACNA1A):c.877G>A (p.Gly293Arg)
|
rs121908215
|
|
NM_001129729.3(PLEKHG4):c.-16C>T
|
rs886041026
|
|
NM_001130823.3(DNMT1):c.1709C>T (p.Ala570Val)
|
rs397509392
|
|
NM_001130823.3(DNMT1):c.1814G>C (p.Gly605Ala)
|
rs397509393
|
|
NM_001130823.3(DNMT1):c.1816G>T (p.Val606Phe)
|
rs397509391
|
|
NM_001278064.2(GRM1):c.2375A>G (p.Tyr792Cys)
|
rs1554308513
|
|
NM_001278064.2(GRM1):c.3165dup (p.Gly1056fs)
|
rs1554317158
|
|
NM_001278064.2(GRM1):c.785A>G (p.Tyr262Cys)
|
rs1554274719
|
|
NM_001378452.1(ITPR1):c.106C>T (p.Arg36Cys)
|
rs2124927471
|
|
NM_001378452.1(ITPR1):c.1804A>G (p.Asn602Asp)
|
rs397514536
|
|
NM_001378452.1(ITPR1):c.3248C>T (p.Pro1083Leu)
|
rs121912425
|
|
NM_001378452.1(ITPR1):c.4684G>A (p.Val1562Met)
|
rs397514535
|
|
NM_001378969.1(KCND3):c.1054A>C (p.Thr352Pro)
|
rs397515476
|
|
NM_001378969.1(KCND3):c.1150G>A (p.Gly384Ser)
|
rs1664632655
|
|
NM_001378969.1(KCND3):c.677TCT[1] (p.Phe227del)
|
rs397515475
|
|
NM_001378969.1(KCND3):c.877_885dup (p.Arg296_Ile297insValPheArg)
|
|
|
NM_001961.4(EEF2):c.1787C>A (p.Pro596His)
|
rs587777052
|
|
NM_002522.4(NPTX1):c.1109A>G (p.Gln370Arg)
|
|
|
NM_002522.4(NPTX1):c.428G>T (p.Arg143Leu)
|
|
|
NM_002522.4(NPTX1):c.980A>G (p.Glu327Gly)
|
|
|
NM_002739.5(PRKCG):c.1081A>G (p.Ser361Gly)
|
rs121918517
|
|
NM_002739.5(PRKCG):c.1438G>T (p.Asp480Tyr)
|
rs387906679
|
|
NM_002739.5(PRKCG):c.1927T>C (p.Phe643Leu)
|
rs121918516
|
|
NM_002739.5(PRKCG):c.2091_*98del (p.Met697_Ter698delinsXaa)
|
rs1555808841
|
|
NM_002739.5(PRKCG):c.301C>T (p.His101Tyr)
|
rs121918511
|
|
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.355T>C (p.Ser119Pro)
|
rs121918512
|
|
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.530_919del
|
|
|
NM_002973.4(ATXN2):c.16CAG[27_33] (p.6Gln[27_33])
|
rs1885090126
|
|
NM_002973.4(ATXN2):c.16CAG[33_?] (p.6Gln[33_?])
|
rs1885090126
|
|
NM_004115.4(FGF14):c.211dup (p.Ile71fs)
|
|
|
NM_004115.4(FGF14):c.434T>C (p.Phe145Ser)
|
rs104894393
|
|
NM_004115.4(FGF14):c.439G>T (p.Glu147Ter)
|
rs865878627
|
|
NM_004115.4(FGF14):c.487del (p.Arg163fs)
|
rs587776685
|
|
NM_004115.4(FGF14):c.529A>T (p.Lys177Ter)
|
rs1555370787
|
|
NM_004977.3(KCNC3):c.1259G>A (p.Arg420His)
|
rs104894699
|
|
NM_004977.3(KCNC3):c.1283C>T (p.Thr428Ile)
|
rs879253883
|
|
NM_004977.3(KCNC3):c.1344C>A (p.Phe448Leu)
|
rs104894700
|
|
NM_004993.6(ATXN3):c.892CAG[8_36]
|
rs193922928
|
|
NM_005861.4(STUB1):c.682C>T (p.Pro228Ser)
|
rs2039691550
|
|
NM_005861.4(STUB1):c.689_692del (p.Tyr230fs)
|
rs754446573
|
|
NM_005861.4(STUB1):c.818_819dup (p.Pro274fs)
|
rs2039704195
|
|
NM_005861.4(STUB1):c.97G>A (p.Gly33Ser)
|
rs2039634238
|
|
NM_006392.4(NOP56):c.3+71_3GGCCTG[16_?]
|
rs1555779353
|
|
NM_006796.3(AFG3L2):c.1295A>C (p.Asn432Thr)
|
rs151344512
|
|
NM_006796.3(AFG3L2):c.1961C>T (p.Thr654Ile)
|
rs151344513
|
|
NM_006796.3(AFG3L2):c.1996A>G (p.Met666Val)
|
rs151344514
|
|
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.2021_2022delinsTA (p.Ser674Leu)
|
rs151344519
|
|
NM_006796.3(AFG3L2):c.2071G>A (p.Glu691Lys)
|
rs151344520
|
|
NM_006796.3(AFG3L2):c.2081C>A (p.Ala694Glu)
|
rs151344521
|
|
NM_006885.4:c.10519GGC[42-74]
|
|
|
NM_006946.4(SPTBN2):c.1438C>T (p.Arg480Trp)
|
rs397514749
|
|
NM_006946.4(SPTBN2):c.1596_1634del (p.Glu532_Met544del)
|
rs1554985851
|
|
NM_006946.4(SPTBN2):c.1886_1900del (p.Leu629_Arg634delinsTrp)
|
rs1941485201
|
|
NM_006946.4(SPTBN2):c.758T>C (p.Leu253Pro)
|
rs121918306
|
|
NM_007289.4(MME):c.428G>A (p.Cys143Tyr)
|
rs879255651
|
|
NM_013236.5(ATXN10):c.1173+54822_1173ATTCT[10_32]
|
rs60726084
|
|
NM_015215.4(CAMTA1):c.180_183del (p.Leu61fs)
|
rs2148504421
|
|
NM_015215.4(CAMTA1):c.404A>G (p.Glu135Gly)
|
rs2149303084
|
|
NM_015215.4(CAMTA1):c.4621C>T (p.Arg1541Ter)
|
rs2096866595
|
|
NM_015215.4(CAMTA1):c.627del (p.Lys208_Trp209insTer)
|
rs1085307743
|
|
NM_015215.4(CAMTA1):c.838del (p.Ser280fs)
|
rs1064796146
|
|
NM_015215.4(CAMTA1):c.882del (p.Tyr297fs)
|
rs886041999
|
|
NM_018896.5(CACNA1G):c.2881G>A (p.Ala961Thr)
|
rs886041505
|
|
NM_018896.5(CACNA1G):c.4591A>G (p.Met1531Val)
|
rs1555558553
|
|
NM_018896.5(CACNA1G):c.5144G>A (p.Arg1715His)
|
rs755221106
|
|
NM_020680.4(SCYL1):c.1509_1510del (p.Ala504fs)
|
rs864309665
|
|
NM_020680.4(SCYL1):c.1534dup (p.Cys512fs)
|
rs1590740858
|
|
NM_020680.4(SCYL1):c.937del (p.Val313fs)
|
rs864309664
|
|
NM_021814.5(ELOVL5):c.214C>G (p.Leu72Val)
|
rs587777671
|
|
NM_021814.5(ELOVL5):c.689G>T (p.Gly230Val)
|
rs587777670
|
|
NM_022726.4(ELOVL4):c.504G>C (p.Leu168Phe)
|
rs587777598
|
|
NM_022726.4(ELOVL4):c.736T>G (p.Trp246Gly)
|
rs1131692036
|
|
NM_024818.6(UBA5):c.736C>T (p.Arg246Ter)
|
rs540839115
|
|
NM_024818.6(UBA5):c.928A>G (p.Lys310Glu)
|
rs886039762
|
|
NM_033109.5(PNPT1):c.2014-3C>G
|
rs748445058
|
|
NM_033109.5(PNPT1):c.2069+3A>G
|
rs2104026165
|
|
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys)
|
rs587777771
|
|
NM_152703.5(SAMD9L):c.1877C>T (p.Ser626Leu)
|
rs1554341671
|
|
NM_173500.4(TTBK2):c.1287_1288del (p.Glu429fs)
|
rs80356539
|
|
NM_173500.4(TTBK2):c.1329dup (p.Arg444fs)
|
rs80356538
|
|
NM_181675.3(PPP2R2B):c.27CAG[(7_28)[ (p.Ser10[(7-28)])
|
|
|
NM_198994.3(TGM6):c.1719AGA[1] (p.Glu574del)
|
rs793888526
|
|
NR_002717.2(ATXN8OS):n.1103CTG[(107_127)]
|
|
|
NR_002717.2(ATXN8OS):n.1103CTG[15_40]
|
|
|