|
NM_001130438.3(SPTAN1):c.2163= (p.Ala721=)
|
rs10760566
|
0.03060
|
|
NM_014334.4(FRRS1L):c.-63G>A
|
rs530413587
|
0.00313
|
|
NM_001330723.2(SNX27):c.967G>A (p.Val323Met)
|
rs61762678
|
0.00311
|
|
NM_001199107.2(TBC1D24):c.1196C>T (p.Thr399Met)
|
rs61731477
|
0.00306
|
|
NM_001099922.3(ALG13):c.2799T>A (p.Pro933=)
|
rs13440710
|
0.00296
|
|
NM_203446.3(SYNJ1):c.*728C>T
|
rs2230767
|
0.00284
|
|
NM_203446.3(SYNJ1):c.1030G>A (p.Ala344Thr)
|
rs114942253
|
0.00255
|
|
NM_015192.4(PLCB1):c.3116T>C (p.Ile1039Thr)
|
rs75820839
|
0.00251
|
|
NM_173728.4(ARHGEF15):c.398C>T (p.Pro133Leu)
|
rs115065009
|
0.00245
|
|
NM_020822.3(KCNT1):c.2543A>G (p.Glu848Gly)
|
rs149804567
|
0.00233
|
|
NM_001199107.2(TBC1D24):c.785C>T (p.Ser262Leu)
|
rs201060500
|
0.00216
|
|
NM_001191061.2(SLC25A22):c.151G>A (p.Asp51Asn)
|
rs116134953
|
0.00210
|
|
NM_152743.4(BRAT1):c.1922C>T (p.Ala641Val)
|
rs113030000
|
0.00206
|
|
NM_006030.4(CACNA2D2):c.115G>A (p.Gly39Arg)
|
rs536869186
|
0.00201
|
|
NM_203446.3(SYNJ1):c.3590C>T (p.Thr1197Met)
|
rs145937537
|
0.00200
|
|
NM_173354.5(SIK1):c.2204G>A (p.Gly735Asp)
|
rs201955244
|
0.00198
|
|
NM_173354.5(SIK1):c.859_861del (p.Pro287del)
|
rs374476526
|
0.00195
|
|
NM_001330723.2(SNX27):c.1156G>C (p.Asp386His)
|
rs138859961
|
0.00188
|
|
NM_020822.3(KCNT1):c.3383C>T (p.Ala1128Val)
|
rs143704418
|
0.00182
|
|
NM_173354.5(SIK1):c.790G>A (p.Ala264Thr)
|
rs112011493
|
0.00172
|
|
NM_001199107.2(TBC1D24):c.1327G>A (p.Glu443Lys)
|
rs141399869
|
0.00163
|
|
NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln)
|
rs151272083
|
0.00162
|
|
NM_001199107.2(TBC1D24):c.493G>A (p.Gly165Ser)
|
rs200926225
|
0.00160
|
|
NM_020822.3(KCNT1):c.3239G>T (p.Gly1080Val)
|
rs200250181
|
0.00159
|
|
NM_203446.3(SYNJ1):c.*4G>A
|
rs115648918
|
0.00158
|
|
NM_152743.4(BRAT1):c.1828C>T (p.Arg610Trp)
|
rs61753094
|
0.00152
|
|
NM_152743.4(BRAT1):c.728G>A (p.Arg243His)
|
rs148261595
|
0.00152
|
|
NM_001184880.2(PCDH19):c.3280C>G (p.Leu1094Val)
|
rs184545774
|
0.00151
|
|
NM_001127222.2(CACNA1A):c.3457C>G (p.Gln1153Glu)
|
rs201612257
|
0.00145
|
|
NM_203446.3(SYNJ1):c.*761C>T
|
rs111516740
|
0.00143
|
|
NM_203446.3(SYNJ1):c.*223A>G
|
rs113978322
|
0.00139
|
|
NM_001165963.4(SCN1A):c.68C>T (p.Ala23Val)
|
rs139397227
|
0.00138
|
|
NM_015192.4(PLCB1):c.2550G>T (p.Glu850Asp)
|
rs141433824
|
0.00137
|
|
NM_001367561.1(DOCK7):c.125A>G (p.Asn42Ser)
|
rs143701798
|
0.00133
|
|
NM_007254.4(PNKP):c.831G>A (p.Thr277=)
|
rs148491228
|
0.00128
|
|
NM_016373.4(WWOX):c.1035G>A (p.Ala345=)
|
rs189695070
|
0.00128
|
|
NM_020822.3(KCNT1):c.3641G>A (p.Arg1214Gln)
|
rs138282349
|
0.00128
|
|
NM_001353921.2(ARHGEF9):c.49A>G (p.Ile17Val)
|
rs55868891
|
0.00125
|
|
NM_001367561.1(DOCK7):c.3935C>T (p.Thr1312Met)
|
rs59558623
|
0.00125
|
|
NM_001184880.2(PCDH19):c.3319C>G (p.Arg1107Gly)
|
rs191333060
|
0.00123
|
|
NM_020822.3(KCNT1):c.3256G>A (p.Gly1086Arg)
|
rs201156458
|
0.00122
|
|
NM_001165963.4(SCN1A):c.4393A>G (p.Ile1465Val)
|
rs138231868
|
0.00121
|
|
NM_173354.5(SIK1):c.1100C>T (p.Ser367Leu)
|
rs146018004
|
0.00118
|
|
NM_007254.4(PNKP):c.1029+2T>C
|
rs199919568
|
0.00115
|
|
NM_173728.4(ARHGEF15):c.2463G>C (p.Gln821His)
|
rs112463375
|
0.00115
|
|
NM_007254.4(PNKP):c.650C>G (p.Thr217Ser)
|
rs115259839
|
0.00112
|
|
NM_203446.3(SYNJ1):c.3205A>G (p.Ser1069Gly)
|
rs149817769
|
0.00105
|
|
NM_001367561.1(DOCK7):c.2828C>T (p.Ser943Phe)
|
rs61742951
|
0.00104
|
|
NM_015192.4(PLCB1):c.1230G>A (p.Ser410=)
|
rs148848282
|
0.00103
|
|
NM_006279.5(ST3GAL3):c.118+10G>C
|
rs147330005
|
0.00101
|
|
NM_173728.4(ARHGEF15):c.1637G>C (p.Arg546Pro)
|
rs142667369
|
0.00097
|
|
NM_001191061.2(SLC25A22):c.132C>T (p.Arg44=)
|
rs146402942
|
0.00096
|
|
NM_172107.4(KCNQ2):c.1348G>A (p.Val450Met)
|
rs146492238
|
0.00096
|
|
NM_152743.4(BRAT1):c.434C>T (p.Ala145Val)
|
rs140833277
|
0.00095
|
|
NM_001271.4(CHD2):c.2973+4A>G
|
rs202244266
|
0.00093
|
|
NM_001127222.2(CACNA1A):c.2687C>G (p.Pro896Arg)
|
rs121908242
|
0.00091
|
|
NM_152743.4(BRAT1):c.361A>C (p.Ser121Arg)
|
rs138585448
|
0.00091
|
|
NM_020822.3(KCNT1):c.2034C>T (p.Gly678=)
|
rs369983077
|
0.00088
|
|
NM_152743.4(BRAT1):c.1792C>T (p.His598Tyr)
|
rs201523118
|
0.00088
|
|
NM_203446.3(SYNJ1):c.2346G>A (p.Pro782=)
|
rs61753644
|
0.00088
|
|
NM_000834.5(GRIN2B):c.4240G>T (p.Ala1414Ser)
|
rs140744818
|
0.00085
|
|
NM_001165963.4(SCN1A):c.3101T>C (p.Ile1034Thr)
|
rs121918818
|
0.00084
|
|
NM_152743.4(BRAT1):c.1564G>C (p.Glu522Gln)
|
rs145509776
|
0.00083
|
|
NM_004975.4(KCNB1):c.1734G>C (p.Gly578=)
|
rs145456546
|
0.00081
|
|
NM_016373.4(WWOX):c.1178C>T (p.Thr393Met)
|
rs139253468
|
0.00081
|
|
NM_001040142.2(SCN2A):c.5446G>T (p.Ala1816Ser)
|
rs147084515
|
0.00079
|
|
NM_152743.4(BRAT1):c.2041G>A (p.Glu681Lys)
|
rs145833100
|
0.00079
|
|
NM_152743.4(BRAT1):c.1507C>T (p.Pro503Ser)
|
rs147745609
|
0.00078
|
|
NM_173354.5(SIK1):c.881C>T (p.Ala294Val)
|
rs141114345
|
0.00077
|
|
NM_016373.4(WWOX):c.1021C>A (p.Leu341Met)
|
rs201616456
|
0.00076
|
|
NM_020822.3(KCNT1):c.942C>T (p.Thr314=)
|
rs144766991
|
0.00075
|
|
NM_152743.4(BRAT1):c.2147C>T (p.Ala716Val)
|
rs140802292
|
0.00075
|
|
NM_001127222.2(CACNA1A):c.3355G>A (p.Ala1119Thr)
|
rs199745070
|
0.00074
|
|
NM_001165963.4(SCN1A):c.5951C>A (p.Pro1984His)
|
rs146733308
|
0.00074
|
|
NM_001184880.2(PCDH19):c.3235C>G (p.Pro1079Ala)
|
rs200854927
|
0.00074
|
|
NM_203446.3(SYNJ1):c.2120T>C (p.Ile707Thr)
|
rs147929290
|
0.00074
|
|
NM_001130438.3(SPTAN1):c.4199A>T (p.Gln1400Leu)
|
rs143108250
|
0.00073
|
|
NM_001184880.2(PCDH19):c.1294A>G (p.Met432Val)
|
rs200728466
|
0.00071
|
|
NM_001127222.2(CACNA1A):c.5650G>A (p.Val1884Ile)
|
rs201836062
|
0.00070
|
|
NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp)
|
rs121917910
|
0.00070
|
|
NM_006279.5(ST3GAL3):c.1014C>G (p.Thr338=)
|
rs149000966
|
0.00070
|
|
NM_020708.5(SLC12A5):c.2680-3C>T
|
rs141933171
|
0.00070
|
|
NM_152743.4(BRAT1):c.826G>A (p.Asp276Asn)
|
rs146546197
|
0.00070
|
|
NM_016373.4(WWOX):c.605+9T>A
|
rs368853054
|
0.00069
|
|
NM_139058.3(ARX):c.447G>C (p.Ala149=)
|
rs745705522
|
0.00069
|
|
NM_001191061.2(SLC25A22):c.140C>T (p.Thr47Met)
|
rs142220309
|
0.00068
|
|
NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His)
|
rs200324356
|
0.00068
|
|
NM_007254.4(PNKP):c.1299-6C>T
|
rs112635688
|
0.00067
|
|
NM_015192.4(PLCB1):c.2841A>G (p.Glu947=)
|
rs35245209
|
0.00067
|
|
NM_001130438.3(SPTAN1):c.2610A>G (p.Gln870=)
|
rs138101005
|
0.00066
|
|
NM_001184880.2(PCDH19):c.769G>C (p.Val257Leu)
|
rs201713027
|
0.00065
|
|
NM_001367561.1(DOCK7):c.5250G>A (p.Ala1750=)
|
rs146098559
|
0.00065
|
|
NM_015192.4(PLCB1):c.1881G>A (p.Gln627=)
|
rs45492700
|
0.00065
|
|
NM_203446.3(SYNJ1):c.*552G>A
|
rs146425050
|
0.00064
|
|
NM_001040142.2(SCN2A):c.100G>A (p.Ala34Thr)
|
rs144814658
|
0.00063
|
|
NM_006030.4(CACNA2D2):c.289-8C>A
|
rs200156964
|
0.00063
|
|
NM_016373.4(WWOX):c.468G>T (p.Arg156Ser)
|
rs140817689
|
0.00063
|
|
NM_020708.5(SLC12A5):c.93C>T (p.Ser31=)
|
rs145033801
|
0.00063
|
|
NM_152743.4(BRAT1):c.924-6C>G
|
rs376179903
|
0.00063
|
|
NM_173728.4(ARHGEF15):c.601G>C (p.Asp201His)
|
rs114491707
|
0.00063
|
|
NM_021072.4(HCN1):c.1619-3T>C
|
rs376434225
|
0.00062
|
|
NM_001330260.2(SCN8A):c.1819G>A (p.Ala607Thr)
|
rs367949317
|
0.00061
|
|
NM_007254.4(PNKP):c.901C>T (p.Arg301Trp)
|
rs201503405
|
0.00061
|
|
NM_006030.4(CACNA2D2):c.3291+16G>T
|
rs143845866
|
0.00059
|
|
NM_001099922.3(ALG13):c.2796A>T (p.Pro932=)
|
rs748742452
|
0.00058
|
|
NM_001191061.2(SLC25A22):c.876G>A (p.Ala292=)
|
rs146300431
|
0.00058
|
|
NM_001367561.1(DOCK7):c.5724+13C>T
|
rs74678635
|
0.00058
|
|
NM_001127222.2(CACNA1A):c.3409C>G (p.Pro1137Ala)
|
rs199793367
|
0.00057
|
|
NM_004975.4(KCNB1):c.2136G>A (p.Thr712=)
|
rs139458439
|
0.00057
|
|
NM_020822.3(KCNT1):c.3685A>G (p.Thr1229Ala)
|
rs74533482
|
0.00057
|
|
NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly)
|
rs143166100
|
0.00054
|
|
NM_001353921.2(ARHGEF9):c.1113C>T (p.Gly371=)
|
rs56375542
|
0.00054
|
|
NM_016373.4(WWOX):c.957C>T (p.Asn319=)
|
rs144417100
|
0.00054
|
|
NM_173728.4(ARHGEF15):c.178C>G (p.Pro60Ala)
|
rs149371094
|
0.00054
|
|
NM_139318.5(KCNH5):c.528T>C (p.His176=)
|
rs142252600
|
0.00052
|
|
NM_016373.4(WWOX):c.60G>C (p.Pro20=)
|
rs376165565
|
0.00051
|
|
NM_001040142.2(SCN2A):c.5155T>C (p.Leu1719=)
|
rs199698414
|
0.00050
|
|
NM_001191061.2(SLC25A22):c.327G>A (p.Ala109=)
|
rs141975755
|
0.00049
|
|
NM_001271.4(CHD2):c.4762C>T (p.Arg1588Trp)
|
rs139646715
|
0.00049
|
|
NM_006030.4(CACNA2D2):c.1984+11C>T
|
rs373427507
|
0.00049
|
|
NM_015192.4(PLCB1):c.3039G>A (p.Gln1013=)
|
rs139859188
|
0.00049
|
|
NM_020708.5(SLC12A5):c.3126-3dup
|
rs767708918
|
0.00049
|
|
NM_173728.4(ARHGEF15):c.1411G>A (p.Val471Ile)
|
rs113425529
|
0.00049
|
|
NM_177550.5(SLC13A5):c.716+15G>A
|
rs377090828
|
0.00049
|
|
NM_005249.5(FOXG1):c.503G>C (p.Gly168Ala)
|
rs148157138
|
0.00048
|
|
NM_014334.4(FRRS1L):c.395T>C (p.Val132Ala)
|
rs149005559
|
0.00048
|
|
NM_020822.3(KCNT1):c.1726G>A (p.Glu576Lys)
|
rs147306623
|
0.00048
|
|
NM_031844.3(HNRNPU):c.2166A>C (p.Gly722=)
|
rs140234240
|
0.00048
|
|
NM_001271.4(CHD2):c.3552A>G (p.Ala1184=)
|
rs144292068
|
0.00047
|
|
NM_007254.4(PNKP):c.519C>T (p.Asp173=)
|
rs144284975
|
0.00047
|
|
NM_016373.4(WWOX):c.517-12C>T
|
rs373188700
|
0.00047
|
|
NM_020822.3(KCNT1):c.3682G>A (p.Glu1228Lys)
|
rs144679713
|
0.00047
|
|
NM_001099922.3(ALG13):c.2485A>G (p.Met829Val)
|
rs368075878
|
0.00046
|
|
NM_001130438.3(SPTAN1):c.3912C>T (p.Pro1304=)
|
rs143844598
|
0.00046
|
|
NM_001367561.1(DOCK7):c.39-15C>T
|
rs372652858
|
0.00046
|
|
NM_001367561.1(DOCK7):c.4827G>A (p.Gln1609=)
|
rs150833623
|
0.00046
|
|
NM_007254.4(PNKP):c.672C>T (p.Arg224=)
|
rs151180981
|
0.00046
|
|
NM_015192.4(PLCB1):c.627A>G (p.Pro209=)
|
rs151006778
|
0.00046
|
|
NM_016373.4(WWOX):c.1203C>T (p.Ser401=)
|
rs201428060
|
0.00046
|
|
NM_172107.4(KCNQ2):c.1827C>T (p.Ala609=)
|
rs369438374
|
0.00046
|
|
NM_020708.5(SLC12A5):c.276G>C (p.Val92=)
|
rs141848967
|
0.00045
|
|
NM_139318.5(KCNH5):c.943-8A>T
|
rs781526061
|
0.00045
|
|
NM_173728.4(ARHGEF15):c.256G>A (p.Asp86Asn)
|
rs146257701
|
0.00045
|
|
NM_003165.6(STXBP1):c.1804A>G (p.Met602Val)
|
rs141208884
|
0.00044
|
|
NM_006030.4(CACNA2D2):c.406-7C>T
|
rs186631992
|
0.00044
|
|
NM_020708.5(SLC12A5):c.2377+10T>C
|
rs369281155
|
0.00044
|
|
NM_020708.5(SLC12A5):c.887G>A (p.Arg296His)
|
rs114371269
|
0.00044
|
|
NM_000834.5(GRIN2B):c.3389G>A (p.Arg1130Gln)
|
rs148625092
|
0.00043
|
|
NM_001040142.2(SCN2A):c.4257C>T (p.Ala1419=)
|
rs141153302
|
0.00043
|
|
NM_001130438.3(SPTAN1):c.2324C>T (p.Ala775Val)
|
rs144649618
|
0.00043
|
|
NM_152743.4(BRAT1):c.2029G>A (p.Val677Met)
|
rs141726264
|
0.00043
|
|
NM_000834.5(GRIN2B):c.812C>T (p.Ala271Val)
|
rs138098032
|
0.00041
|
|
NM_001127222.2(CACNA1A):c.978+9T>C
|
rs111366222
|
0.00041
|
|
NM_001191061.2(SLC25A22):c.743-12C>T
|
rs200517971
|
0.00041
|
|
NM_001271.4(CHD2):c.1810-3T>C
|
rs189339982
|
0.00041
|
|
NM_001367561.1(DOCK7):c.6213-5C>G
|
rs192197842
|
0.00041
|
|
NM_001958.5(EEF1A2):c.357C>T (p.Gly119=)
|
rs143241534
|
0.00041
|
|
NM_020822.3(KCNT1):c.2070C>T (p.Gly690=)
|
rs370155559
|
0.00041
|
|
NM_177550.5(SLC13A5):c.690C>T (p.Asn230=)
|
rs146385318
|
0.00041
|
|
NM_001040142.2(SCN2A):c.1416A>G (p.Arg472=)
|
rs200246820
|
0.00040
|
|
NM_001099922.3(ALG13):c.638G>A (p.Ser213Asn)
|
rs374748006
|
0.00040
|
|
NM_001184880.2(PCDH19):c.3439G>A (p.Val1147Ile)
|
rs138771033
|
0.00040
|
|
NM_177550.5(SLC13A5):c.1576-13G>A
|
rs377340234
|
0.00040
|
|
NM_177550.5(SLC13A5):c.369-17C>T
|
rs372696631
|
0.00040
|
|
NM_177550.5(SLC13A5):c.582G>A (p.Gly194=)
|
rs147260918
|
0.00040
|
|
NM_004408.4(DNM1):c.1707C>T (p.Asn569=)
|
rs145318071
|
0.00039
|
|
NM_016373.4(WWOX):c.173-11T>C
|
rs370729028
|
0.00039
|
|
NM_139318.5(KCNH5):c.515C>G (p.Thr172Arg)
|
rs34764419
|
0.00039
|
|
NM_173728.4(ARHGEF15):c.652C>T (p.Arg218Trp)
|
rs200767050
|
0.00039
|
|
NM_001130438.3(SPTAN1):c.4580A>G (p.Asn1527Ser)
|
rs145038571
|
0.00038
|
|
NM_001165963.4(SCN1A):c.5568G>A (p.Met1856Ile)
|
rs144691638
|
0.00038
|
|
NM_001330260.2(SCN8A):c.992+10T>A
|
rs367746278
|
0.00038
|
|
NM_006279.5(ST3GAL3):c.302+10C>G
|
rs192651565
|
0.00037
|
|
NM_020708.5(SLC12A5):c.808A>G (p.Ile270Val)
|
rs753714930
|
0.00037
|
|
NM_020822.3(KCNT1):c.3340C>T (p.Arg1114Trp)
|
rs370085077
|
0.00037
|
|
NM_172107.4(KCNQ2):c.795G>A (p.Ala265=)
|
rs148654588
|
0.00037
|
|
NM_203446.3(SYNJ1):c.*443G>A
|
rs532034867
|
0.00037
|
|
NM_001130438.3(SPTAN1):c.2700C>T (p.Asn900=)
|
rs147466898
|
0.00036
|
|
NM_001367561.1(DOCK7):c.4368G>A (p.Glu1456=)
|
rs149367921
|
0.00036
|
|
NM_006030.4(CACNA2D2):c.1227C>T (p.Asp409=)
|
rs150031515
|
0.00036
|
|
NM_020988.3(GNAO1):c.593+12A>C
|
rs370265621
|
0.00036
|
|
NM_139318.5(KCNH5):c.2097C>A (p.Ser699Arg)
|
rs148812753
|
0.00036
|
|
NM_173728.4(ARHGEF15):c.322G>A (p.Ala108Thr)
|
rs139532485
|
0.00036
|
|
NM_203446.3(SYNJ1):c.*312C>T
|
rs149199429
|
0.00036
|
|
NM_000834.5(GRIN2B):c.3807A>T (p.Pro1269=)
|
rs78765966
|
0.00035
|
|
NM_001099922.3(ALG13):c.371A>G (p.Tyr124Cys)
|
rs145518377
|
0.00035
|
|
NM_001199107.2(TBC1D24):c.1143-15G>A
|
rs371213803
|
0.00035
|
|
NM_001199107.2(TBC1D24):c.1570C>T (p.Arg524Trp)
|
rs78644690
|
0.00035
|
|
NM_020822.3(KCNT1):c.522G>A (p.Met174Ile)
|
rs147551342
|
0.00035
|
|
NM_152743.4(BRAT1):c.1727G>C (p.Gly576Ala)
|
rs150846882
|
0.00035
|
|
NM_172107.4(KCNQ2):c.1253G>T (p.Gly418Val)
|
rs201750561
|
0.00035
|
|
NM_173354.5(SIK1):c.1404G>A (p.Thr468=)
|
rs147101451
|
0.00035
|
|
NM_173728.4(ARHGEF15):c.255C>T (p.Leu85=)
|
rs141354994
|
0.00035
|
|
NM_177550.5(SLC13A5):c.1230C>T (p.Ile410=)
|
rs149447388
|
0.00035
|
|
NM_020708.5(SLC12A5):c.2378-18C>A
|
rs199747973
|
0.00034
|
|
NM_152743.4(BRAT1):c.955G>A (p.Val319Ile)
|
rs140903769
|
0.00034
|
|
NM_172107.4(KCNQ2):c.2266G>A (p.Gly756Ser)
|
rs200909197
|
0.00034
|
|
NM_001330260.2(SCN8A):c.2109T>C (p.Val703=)
|
rs369029348
|
0.00033
|
|
NM_001367561.1(DOCK7):c.468A>G (p.Gln156=)
|
rs750226687
|
0.00033
|
|
NM_020822.3(KCNT1):c.957C>T (p.Asp319=)
|
rs148562086
|
0.00033
|
|
NM_001040142.2(SCN2A):c.1376A>C (p.Glu459Ala)
|
rs184769423
|
0.00032
|
|
NM_001191061.2(SLC25A22):c.413-8G>C
|
rs376015598
|
0.00032
|
|
NM_001330260.2(SCN8A):c.4764C>T (p.Phe1588=)
|
rs200728478
|
0.00032
|
|
NM_004974.4(KCNA2):c.903C>T (p.Val301=)
|
rs752322953
|
0.00032
|
|
NM_020822.3(KCNT1):c.1258C>T (p.Leu420=)
|
rs199996353
|
0.00032
|
|
NM_020988.3(GNAO1):c.474C>T (p.Asp158=)
|
rs144771965
|
0.00032
|
|
NM_021072.4(HCN1):c.240C>A (p.Gly80=)
|
rs373664268
|
0.00032
|
|
NM_173354.5(SIK1):c.2159C>T (p.Pro720Leu)
|
rs547049916
|
0.00032
|
|
NM_001130438.3(SPTAN1):c.480C>T (p.Asp160=)
|
rs201249013
|
0.00031
|
|
NM_001184880.2(PCDH19):c.1353G>A (p.Pro451=)
|
rs373795773
|
0.00031
|
|
NM_001199107.2(TBC1D24):c.179G>A (p.Arg60Gln)
|
rs200226466
|
0.00031
|
|
NM_001271.4(CHD2):c.1214C>T (p.Pro405Leu)
|
rs370464322
|
0.00031
|
|
NM_020988.3(GNAO1):c.27G>A (p.Glu9=)
|
rs139334934
|
0.00031
|
|
NM_173728.4(ARHGEF15):c.476G>C (p.Gly159Ala)
|
rs116075794
|
0.00031
|
|
NM_005249.5(FOXG1):c.245C>A (p.Pro82Gln)
|
rs796052453
|
0.00030
|
|
NM_007254.4(PNKP):c.1386+41_1386+42del
|
rs765720389
|
0.00030
|
|
NM_020708.5(SLC12A5):c.1941T>G (p.Gly647=)
|
rs148489203
|
0.00030
|
|
NM_020822.3(KCNT1):c.2008+7C>T
|
rs372707698
|
0.00030
|
|
NM_203446.3(SYNJ1):c.1830C>G (p.Leu610=)
|
rs115658799
|
0.00030
|
|
NM_000834.5(GRIN2B):c.2931C>G (p.Asp977Glu)
|
rs147956755
|
0.00029
|
|
NM_001127222.2(CACNA1A):c.3117G>T (p.Val1039=)
|
rs745981005
|
0.00029
|
|
NM_001127222.2(CACNA1A):c.4806C>T (p.Ile1602=)
|
rs372240227
|
0.00029
|
|
NM_001271.4(CHD2):c.1091A>G (p.Asn364Ser)
|
rs143043614
|
0.00029
|
|
NM_001271.4(CHD2):c.4078G>A (p.Gly1360Arg)
|
rs146655995
|
0.00029
|
|
NM_001330260.2(SCN8A):c.1424G>A (p.Arg475Gln)
|
rs201018451
|
0.00029
|
|
NM_001367561.1(DOCK7):c.2121A>G (p.Leu707=)
|
rs144867736
|
0.00029
|
|
NM_001367561.1(DOCK7):c.6018G>A (p.Glu2006=)
|
rs143414077
|
0.00029
|
|
NM_005249.5(FOXG1):c.201G>T (p.Pro67=)
|
rs587780944
|
0.00029
|
|
NM_006030.4(CACNA2D2):c.1390-9C>A
|
rs200790128
|
0.00029
|
|
NM_016373.4(WWOX):c.1142G>A (p.Arg381His)
|
rs202002431
|
0.00029
|
|
NM_016373.4(WWOX):c.552C>T (p.Leu184=)
|
rs199715254
|
0.00029
|
|
NM_020708.5(SLC12A5):c.1989G>C (p.Gly663=)
|
rs373648545
|
0.00029
|
|
NM_020708.5(SLC12A5):c.2548-8G>A
|
rs180864043
|
0.00029
|
|
NM_021072.4(HCN1):c.2170G>A (p.Ala724Thr)
|
rs141383188
|
0.00029
|
|
NM_139318.5(KCNH5):c.1395A>C (p.Gly465=)
|
rs201996055
|
0.00029
|
|
NM_139318.5(KCNH5):c.261C>T (p.Asn87=)
|
rs150609268
|
0.00029
|
|
NM_152743.4(BRAT1):c.1135-5C>T
|
rs374463976
|
0.00029
|
|
NM_152743.4(BRAT1):c.1421C>T (p.Thr474Met)
|
rs148923187
|
0.00029
|
|
NM_173354.5(SIK1):c.2175G>A (p.Ala725=)
|
rs372469113
|
0.00029
|
|
NM_177550.5(SLC13A5):c.1095C>G (p.Thr365=)
|
rs139660928
|
0.00029
|
|
NM_001130438.3(SPTAN1):c.2889G>A (p.Thr963=)
|
rs34654141
|
0.00028
|
|
NM_001130438.3(SPTAN1):c.3042T>G (p.Gly1014=)
|
rs150870424
|
0.00028
|
|
NM_001367561.1(DOCK7):c.30G>A (p.Lys10=)
|
rs760870648
|
0.00028
|
|
NM_020988.3(GNAO1):c.828C>T (p.Gly276=)
|
rs199741926
|
0.00028
|
|
NM_152743.4(BRAT1):c.1594G>A (p.Gly532Arg)
|
rs142129866
|
0.00028
|
|
NM_001040142.2(SCN2A):c.1402_1404del (p.Ser468del)
|
rs780584405
|
0.00027
|
|
NM_001040142.2(SCN2A):c.82C>T (p.Arg28Cys)
|
rs200884216
|
0.00027
|
|
NM_001099922.3(ALG13):c.2975G>A (p.Cys992Tyr)
|
rs190790872
|
0.00027
|
|
NM_001130438.3(SPTAN1):c.1651-17G>A
|
rs372860106
|
0.00027
|
|
NM_001130438.3(SPTAN1):c.3518A>C (p.Gln1173Pro)
|
rs141696651
|
0.00027
|
|
NM_001130438.3(SPTAN1):c.4536C>T (p.Ile1512=)
|
rs367772623
|
0.00027
|
|
NM_001330260.2(SCN8A):c.4748T>C (p.Ile1583Thr)
|
rs201458257
|
0.00027
|
|
NM_006030.4(CACNA2D2):c.669T>C (p.Asn223=)
|
rs141327265
|
0.00027
|
|
NM_006279.5(ST3GAL3):c.1079G>A (p.Arg360Gln)
|
rs553120567
|
0.00027
|
|
NM_007254.4(PNKP):c.498+11C>T
|
rs371375970
|
0.00027
|
|
NM_020822.3(KCNT1):c.2418G>A (p.Ser806=)
|
rs142726010
|
0.00027
|
|
NM_001127222.2(CACNA1A):c.1905C>T (p.Phe635=)
|
rs115452236
|
0.00026
|
|
NM_001165963.4(SCN1A):c.384-21T>A
|
rs373168416
|
0.00026
|
|
NM_001184880.2(PCDH19):c.1968T>A (p.Ala656=)
|
rs776150934
|
0.00026
|
|
NM_001199107.2(TBC1D24):c.1038C>T (p.Ser346=)
|
rs377697825
|
0.00026
|
|
NM_001330260.2(SCN8A):c.5577C>T (p.Ser1859=)
|
rs185667241
|
0.00026
|
|
NM_004408.4(DNM1):c.414C>T (p.Pro138=)
|
rs141748215
|
0.00026
|
|
NM_004974.4(KCNA2):c.1047A>G (p.Ala349=)
|
rs371979518
|
0.00026
|
|
NM_004974.4(KCNA2):c.372G>A (p.Glu124=)
|
rs200499541
|
0.00026
|
|
NM_006030.4(CACNA2D2):c.1683C>T (p.His561=)
|
rs141525581
|
0.00026
|
|
NM_006030.4(CACNA2D2):c.1908-6C>G
|
rs200831326
|
0.00026
|
|
NM_014334.4(FRRS1L):c.129G>A (p.Arg43=)
|
rs768363888
|
0.00026
|
|
NM_015192.4(PLCB1):c.3607C>T (p.Leu1203=)
|
rs150804955
|
0.00026
|
|
NM_020708.5(SLC12A5):c.936G>A (p.Thr312=)
|
rs150595305
|
0.00026
|
|
NM_020708.5(SLC12A5):c.942C>T (p.Thr314=)
|
rs143072268
|
0.00026
|
|
NM_020822.3(KCNT1):c.2214G>A (p.Pro738=)
|
rs142424896
|
0.00026
|
|
NM_020822.3(KCNT1):c.2454C>T (p.Ile818=)
|
rs149452823
|
0.00026
|
|
NM_020822.3(KCNT1):c.467A>G (p.Asn156Ser)
|
rs200632957
|
0.00026
|
|
NM_020822.3(KCNT1):c.759+13G>A
|
rs375237065
|
0.00026
|
|
NM_139058.3(ARX):c.1515A>G (p.Thr505=)
|
rs398124509
|
0.00026
|
|
NM_152743.4(BRAT1):c.804-20T>C
|
rs201155141
|
0.00026
|
|
NM_173354.5(SIK1):c.2148C>T (p.Thr716=)
|
rs776741814
|
0.00026
|
|
NM_173354.5(SIK1):c.875T>A (p.Phe292Tyr)
|
rs150241738
|
0.00026
|
|
NM_203446.3(SYNJ1):c.909A>G (p.Gly303=)
|
rs145522240
|
0.00026
|
|
NM_000834.5(GRIN2B):c.3413G>A (p.Arg1138Gln)
|
rs187979330
|
0.00025
|
|
NM_001040142.2(SCN2A):c.2923C>T (p.Leu975=)
|
rs375858093
|
0.00025
|
|
NM_001165963.4(SCN1A):c.3749C>T (p.Thr1250Met)
|
rs140731963
|
0.00025
|
|
NM_001191061.2(SLC25A22):c.51C>T (p.Ile17=)
|
rs566076909
|
0.00025
|
|
NM_001367561.1(DOCK7):c.156C>T (p.Thr52=)
|
rs147045113
|
0.00025
|
|
NM_001958.5(EEF1A2):c.807C>T (p.Thr269=)
|
rs147062680
|
0.00025
|
|
NM_004975.4(KCNB1):c.2324C>A (p.Pro775His)
|
rs530927636
|
0.00025
|
|
NM_006030.4(CACNA2D2):c.2295C>T (p.Asn765=)
|
rs139125287
|
0.00025
|
|
NM_014334.4(FRRS1L):c.189C>T (p.Tyr63=)
|
rs1052826149
|
0.00025
|
|
NM_015192.4(PLCB1):c.2907C>T (p.Ser969=)
|
rs368328261
|
0.00025
|
|
NM_020708.5(SLC12A5):c.2013-10C>T
|
rs374272959
|
0.00025
|
|
NM_020822.3(KCNT1):c.1638G>A (p.Pro546=)
|
rs138352399
|
0.00025
|
|
NM_031844.3(HNRNPU):c.2168-12C>G
|
rs200427582
|
0.00025
|
|
NM_177550.5(SLC13A5):c.232-7G>A
|
rs376066820
|
0.00025
|
|
NM_000834.5(GRIN2B):c.3549G>A (p.Thr1183=)
|
rs201568782
|
0.00024
|
|
NM_001040142.2(SCN2A):c.952G>A (p.Glu318Lys)
|
rs149987700
|
0.00024
|
|
NM_001127222.2(CACNA1A):c.3227C>T (p.Ala1076Val)
|
rs199512932
|
0.00024
|
|
NM_001130438.3(SPTAN1):c.2025T>C (p.Arg675=)
|
rs145870898
|
0.00024
|
|
NM_001130438.3(SPTAN1):c.2778+18G>A
|
rs372896131
|
0.00024
|
|
NM_001165963.4(SCN1A):c.4002+2112T>C
|
rs528876785
|
0.00024
|
|
NM_001199107.2(TBC1D24):c.22T>C (p.Cys8Arg)
|
rs77585883
|
0.00024
|
|
NM_020708.5(SLC12A5):c.2547+13C>T
|
rs374783489
|
0.00024
|
|
NM_020822.3(KCNT1):c.1511-4G>A
|
rs368480443
|
0.00024
|
|
NM_020822.3(KCNT1):c.3162C>T (p.His1054=)
|
rs146272510
|
0.00024
|
|
NM_139318.5(KCNH5):c.2236T>C (p.Ser746Pro)
|
rs34439924
|
0.00024
|
|
NM_152743.4(BRAT1):c.1693G>A (p.Ala565Thr)
|
rs200932983
|
0.00024
|
|
NM_173728.4(ARHGEF15):c.1950C>T (p.Gly650=)
|
rs200647100
|
0.00024
|
|
NM_173728.4(ARHGEF15):c.2393C>A (p.Pro798His)
|
rs202178259
|
0.00024
|
|
NM_173728.4(ARHGEF15):c.645C>T (p.His215=)
|
rs202151511
|
0.00024
|
|
NM_203446.3(SYNJ1):c.125-17A>G
|
rs113560074
|
0.00024
|
|
NM_203446.3(SYNJ1):c.2874+5G>A
|
rs371765751
|
0.00024
|
|
NM_203446.3(SYNJ1):c.2997T>C (p.Leu999=)
|
rs111774827
|
0.00024
|
|
NM_000834.5(GRIN2B):c.1356C>T (p.Tyr452=)
|
rs142935139
|
0.00023
|
|
NM_001040142.2(SCN2A):c.5397T>C (p.Tyr1799=)
|
rs200603552
|
0.00023
|
|
NM_001099922.3(ALG13):c.3143C>G (p.Ala1048Gly)
|
rs773401427
|
0.00023
|
|
NM_001127222.2(CACNA1A):c.3035C>A (p.Thr1012Lys)
|
rs573941336
|
0.00023
|
|
NM_001130438.3(SPTAN1):c.6042T>G (p.Ser2014=)
|
rs142830725
|
0.00023
|
|
NM_001330260.2(SCN8A):c.2370+14_2370+15del
|
rs768088808
|
0.00023
|
|
NM_005249.5(FOXG1):c.420C>A (p.Val140=)
|
rs967306759
|
0.00023
|
|
NM_015192.4(PLCB1):c.696-18G>T
|
rs371748595
|
0.00023
|
|
NM_015192.4(PLCB1):c.714A>C (p.Pro238=)
|
rs147567110
|
0.00023
|
|
NM_020822.3(KCNT1):c.3694G>A (p.Glu1232Lys)
|
rs138109494
|
0.00023
|
|
NM_021072.4(HCN1):c.201T>C (p.Gly67=)
|
rs779788281
|
0.00023
|
|
NM_152743.4(BRAT1):c.2259G>A (p.Pro753=)
|
rs376271902
|
0.00023
|
|
NM_203446.3(SYNJ1):c.*333C>T
|
rs548047319
|
0.00023
|
|
NM_001127222.2(CACNA1A):c.1395G>A (p.Ser465=)
|
rs374307014
|
0.00022
|
|
NM_001127222.2(CACNA1A):c.6505C>T (p.Arg2169Cys)
|
rs375354077
|
0.00022
|
|
NM_001165963.4(SCN1A):c.4002+2053T>C
|
rs541854992
|
0.00022
|
|
NM_001184880.2(PCDH19):c.2790T>C (p.Ala930=)
|
rs375759744
|
0.00022
|
|
NM_001330260.2(SCN8A):c.3820-7T>C
|
rs375785915
|
0.00022
|
|
NM_001330260.2(SCN8A):c.751C>T (p.Leu251=)
|
rs200307006
|
0.00022
|
|
NM_001367561.1(DOCK7):c.2113-18A>G
|
rs201000785
|
0.00022
|
|
NM_004408.4(DNM1):c.2582C>A (p.Pro861His)
|
rs187315526
|
0.00022
|
|
NM_004975.4(KCNB1):c.51G>A (p.Pro17=)
|
rs772184358
|
0.00022
|
|
NM_006030.4(CACNA2D2):c.3183C>T (p.Gly1061=)
|
rs200429466
|
0.00022
|
|
NM_139058.3(ARX):c.336A>G (p.Ala112=)
|
rs794727308
|
0.00022
|
|
NM_152743.4(BRAT1):c.1598-4C>A
|
rs375295804
|
0.00022
|
|
NM_173354.5(SIK1):c.2226C>T (p.Pro742=)
|
rs199872172
|
0.00022
|
|
NM_173354.5(SIK1):c.2320T>G (p.Cys774Gly)
|
rs756377602
|
0.00022
|
|
NM_173354.5(SIK1):c.748+7C>T
|
rs200315286
|
0.00022
|
|
NM_173728.4(ARHGEF15):c.2270-20T>A
|
rs373651370
|
0.00022
|
|
NM_001130438.3(SPTAN1):c.4116C>T (p.Thr1372=)
|
rs148554113
|
0.00021
|
|
NM_001130438.3(SPTAN1):c.5301A>G (p.Glu1767=)
|
rs200641770
|
0.00021
|
|
NM_001199107.2(TBC1D24):c.1411G>A (p.Ala471Thr)
|
rs377448015
|
0.00021
|
|
NM_001271.4(CHD2):c.4483G>A (p.Val1495Met)
|
rs770993927
|
0.00021
|
|
NM_001367561.1(DOCK7):c.4653T>C (p.Ala1551=)
|
rs150922364
|
0.00021
|
|
NM_004408.4(DNM1):c.235+8C>T
|
rs370555560
|
0.00021
|
|
NM_006030.4(CACNA2D2):c.1552-12T>C
|
rs587754429
|
0.00021
|
|
NM_006030.4(CACNA2D2):c.406-20C>T
|
rs370373554
|
0.00021
|
|
NM_007254.4(PNKP):c.678G>A (p.Lys226=)
|
rs141969535
|
0.00021
|
|
NM_020822.3(KCNT1):c.1928G>A (p.Arg643Gln)
|
rs141281093
|
0.00021
|
|
NM_020822.3(KCNT1):c.2058C>T (p.Ser686=)
|
rs111647144
|
0.00021
|
|
NM_020822.3(KCNT1):c.2236G>A (p.Val746Met)
|
rs559344618
|
0.00021
|
|
NM_139058.3(ARX):c.558G>T (p.Pro186=)
|
rs748764628
|
0.00021
|
|
NM_152743.4(BRAT1):c.1134+18C>T
|
rs199509441
|
0.00021
|
|
NM_152743.4(BRAT1):c.1396-11A>G
|
rs200500603
|
0.00021
|
|
NM_152743.4(BRAT1):c.2340C>G (p.Asp780Glu)
|
rs201045158
|
0.00021
|
|
NM_173728.4(ARHGEF15):c.2033+8C>T
|
rs371763163
|
0.00021
|
|
NM_203446.3(SYNJ1):c.2875-5G>A
|
rs376206541
|
0.00021
|
|
NM_001130438.3(SPTAN1):c.3693C>T (p.Ser1231=)
|
rs142305088
|
0.00020
|
|
NM_001130438.3(SPTAN1):c.7365C>T (p.Asp2455=)
|
rs142777123
|
0.00020
|
|
NM_001165963.4(SCN1A):c.270T>C (p.Phe90=)
|
rs1424456870
|
0.00020
|
|
NM_001958.5(EEF1A2):c.30C>T (p.Ile10=)
|
rs376374917
|
0.00020
|
|
NM_004408.4(DNM1):c.1386C>T (p.Thr462=)
|
rs372666180
|
0.00020
|
|
NM_004974.4(KCNA2):c.79G>A (p.Ala27Thr)
|
rs750618978
|
0.00020
|
|
NM_005249.5(FOXG1):c.304C>T (p.Leu102=)
|
rs1343209225
|
0.00020
|
|
NM_005249.5(FOXG1):c.456G>T (p.Gly152=)
|
rs587783637
|
0.00020
|
|
NM_006030.4(CACNA2D2):c.3099-9dup
|
rs587726240
|
0.00020
|
|
NM_007254.4(PNKP):c.1387-37A>T
|
rs530790386
|
0.00020
|
|
NM_020822.3(KCNT1):c.2136C>T (p.Pro712=)
|
rs377516058
|
0.00020
|
|
NM_173728.4(ARHGEF15):c.2442A>G (p.Glu814=)
|
rs140557878
|
0.00020
|
|
NM_000834.5(GRIN2B):c.2813G>A (p.Arg938His)
|
rs150445188
|
0.00019
|
|
NM_001040142.2(SCN2A):c.879T>G (p.Thr293=)
|
rs201685102
|
0.00019
|
|
NM_001127222.2(CACNA1A):c.1781+7C>A
|
rs202005119
|
0.00019
|
|
NM_001127222.2(CACNA1A):c.1995G>A (p.Thr665=)
|
rs376641545
|
0.00019
|
|
NM_001127222.2(CACNA1A):c.2955G>C (p.Pro985=)
|
rs749357610
|
0.00019
|
|
NM_001127222.2(CACNA1A):c.6339+10G>C
|
rs376238265
|
0.00019
|
|
NM_001130438.3(SPTAN1):c.3235C>G (p.Leu1079Val)
|
rs559839676
|
0.00019
|
|
NM_001130438.3(SPTAN1):c.4260T>G (p.Leu1420=)
|
rs146150071
|
0.00019
|
|
NM_001130438.3(SPTAN1):c.505-14T>C
|
rs372907681
|
0.00019
|
|
NM_001130438.3(SPTAN1):c.5106G>A (p.Leu1702=)
|
rs373491498
|
0.00019
|
|
NM_001165963.4(SCN1A):c.3899C>T (p.Thr1300Ile)
|
rs146878122
|
0.00019
|
|
NM_001165963.4(SCN1A):c.694+10A>G
|
rs373417440
|
0.00019
|
|
NM_001271.4(CHD2):c.4278+5T>C
|
rs202174434
|
0.00019
|
|
NM_001367561.1(DOCK7):c.2442T>G (p.Gly814=)
|
rs143682603
|
0.00019
|
|
NM_001367561.1(DOCK7):c.320+20T>C
|
rs368086303
|
0.00019
|
|
NM_004408.4(DNM1):c.1586A>G (p.Asn529Ser)
|
rs150040014
|
0.00019
|
|
NM_005249.5(FOXG1):c.1200C>T (p.Tyr400=)
|
rs138747073
|
0.00019
|
|
NM_007254.4(PNKP):c.1281C>T (p.Asp427=)
|
rs770775129
|
0.00019
|
|
NM_007254.4(PNKP):c.198+9G>A
|
rs370222304
|
0.00019
|
|
NM_016373.4(WWOX):c.723G>A (p.Gln241=)
|
rs191029309
|
0.00019
|
|
NM_020822.3(KCNT1):c.3027+18C>T
|
rs369541323
|
0.00019
|
|
NM_020822.3(KCNT1):c.3178-16G>T
|
rs55906268
|
0.00019
|
|
NM_173354.5(SIK1):c.1086G>T (p.Pro362=)
|
rs139979941
|
0.00019
|
|
NM_173354.5(SIK1):c.1246-5C>T
|
rs371389145
|
0.00019
|
|
NM_203446.3(SYNJ1):c.1726+18T>C
|
rs780148215
|
0.00019
|
|
NM_001127222.2(CACNA1A):c.784+10C>T
|
rs781363787
|
0.00018
|
|
NM_001130438.3(SPTAN1):c.2011+10G>A
|
rs377437879
|
0.00018
|
|
NM_001165963.4(SCN1A):c.1710C>T (p.Ser570=)
|
rs770432127
|
0.00018
|
|
NM_001184880.2(PCDH19):c.1209C>T (p.Ser403=)
|
rs372006606
|
0.00018
|
|
NM_001184880.2(PCDH19):c.655C>T (p.Leu219=)
|
rs377627937
|
0.00018
|
|
NM_001199107.2(TBC1D24):c.1503G>A (p.Gly501=)
|
rs368735897
|
0.00018
|
|
NM_001271.4(CHD2):c.2728-16G>A
|
rs111544874
|
0.00018
|
|
NM_001367561.1(DOCK7):c.5307T>C (p.Phe1769=)
|
rs139605324
|
0.00018
|
|
NM_001367561.1(DOCK7):c.5643C>T (p.Tyr1881=)
|
rs151223176
|
0.00018
|
|
NM_001367561.1(DOCK7):c.6105+11T>C
|
rs545564631
|
0.00018
|
|
NM_007254.4(PNKP):c.1298+14G>A
|
rs559532107
|
0.00018
|
|
NM_016373.4(WWOX):c.1179G>A (p.Thr393=)
|
rs376293017
|
0.00018
|
|
NM_020822.3(KCNT1):c.3001A>G (p.Thr1001Ala)
|
rs143780942
|
0.00018
|
|
NM_020822.3(KCNT1):c.637G>A (p.Val213Ile)
|
rs143536408
|
0.00018
|
|
NM_020822.3(KCNT1):c.867C>A (p.Ile289=)
|
rs761045901
|
0.00018
|
|
NM_139318.5(KCNH5):c.198-10T>C
|
rs767054080
|
0.00018
|
|
NM_173354.5(SIK1):c.1926C>T (p.Ala642=)
|
rs761311570
|
0.00018
|
|
NM_173354.5(SIK1):c.2048C>T (p.Pro683Leu)
|
rs776595772
|
0.00018
|
|
NM_177550.5(SLC13A5):c.642C>T (p.Tyr214=)
|
rs148755614
|
0.00018
|
|
NM_203446.3(SYNJ1):c.1953-10T>C
|
rs368736353
|
0.00018
|
|
NM_203446.3(SYNJ1):c.2937A>G (p.Glu979=)
|
rs574473408
|
0.00018
|
|
NM_001040142.2(SCN2A):c.5517C>T (p.Leu1839=)
|
rs148424455
|
0.00017
|
|
NM_001127222.2(CACNA1A):c.1545C>T (p.Ser515=)
|
rs372275167
|
0.00017
|
|
NM_001127222.2(CACNA1A):c.6474C>T (p.Arg2158=)
|
rs368016666
|
0.00017
|
|
NM_001127222.2(CACNA1A):c.6494G>A (p.Arg2165His)
|
rs727503832
|
0.00017
|
|
NM_001130438.3(SPTAN1):c.108G>A (p.Arg36=)
|
rs371017342
|
0.00017
|
|
NM_001130438.3(SPTAN1):c.4905+19C>T
|
rs140922514
|
0.00017
|
|
NM_001271.4(CHD2):c.2877-15A>G
|
rs374737708
|
0.00017
|
|
NM_001271.4(CHD2):c.4009-4C>T
|
rs376566234
|
0.00017
|
|
NM_004975.4(KCNB1):c.2520C>T (p.Asp840=)
|
rs372147544
|
0.00017
|
|
NM_006030.4(CACNA2D2):c.243C>T (p.Val81=)
|
rs374658103
|
0.00017
|
|
NM_006279.5(ST3GAL3):c.1075C>T (p.Leu359=)
|
rs200457973
|
0.00017
|
|
NM_173354.5(SIK1):c.1619C>T (p.Ser540Leu)
|
rs200481902
|
0.00017
|
|
NM_177550.5(SLC13A5):c.741C>T (p.Leu247=)
|
rs138520827
|
0.00017
|
|
NM_203446.3(SYNJ1):c.3591G>A (p.Thr1197=)
|
rs764207431
|
0.00017
|
|
NM_000834.5(GRIN2B):c.1704C>T (p.Ile568=)
|
rs202102041
|
0.00016
|
|
NM_000834.5(GRIN2B):c.189C>T (p.Ser63=)
|
rs199707487
|
0.00016
|
|
NM_000834.5(GRIN2B):c.3648C>T (p.Arg1216=)
|
rs201405157
|
0.00016
|
|
NM_001032221.6(STXBP1):c.903-4C>G
|
rs369625158
|
0.00016
|
|
NM_001040142.2(SCN2A):c.4287T>C (p.Tyr1429=)
|
rs150209984
|
0.00016
|
|
NM_001040142.2(SCN2A):c.4565G>C (p.Gly1522Ala)
|
rs147522594
|
0.00016
|
|
NM_001127222.2(CACNA1A):c.2907G>A (p.Pro969=)
|
rs772557121
|
0.00016
|
|
NM_001127222.2(CACNA1A):c.3384G>A (p.Pro1128=)
|
rs370541345
|
0.00016
|
|
NM_001127222.2(CACNA1A):c.4410C>T (p.Asp1470=)
|
rs374555263
|
0.00016
|
|
NM_001127222.2(CACNA1A):c.5170G>A (p.Asp1724Asn)
|
rs371595464
|
0.00016
|
|
NM_001127222.2(CACNA1A):c.6339+11C>T
|
rs190260468
|
0.00016
|
|
NM_001130438.3(SPTAN1):c.6417C>T (p.Asp2139=)
|
rs140418358
|
0.00016
|
|
NM_001165963.4(SCN1A):c.1378-3T>C
|
rs150964803
|
0.00016
|
|
NM_001165963.4(SCN1A):c.1797G>A (p.Glu599=)
|
rs145035963
|
0.00016
|
|
NM_001165963.4(SCN1A):c.1889G>A (p.Arg630Gln)
|
rs145670933
|
0.00016
|
|
NM_001165963.4(SCN1A):c.4129A>G (p.Ile1377Val)
|
rs762317674
|
0.00016
|
|
NM_001199107.2(TBC1D24):c.492C>G (p.Pro164=)
|
rs369172908
|
0.00016
|
|
NM_001271.4(CHD2):c.1377+12G>A
|
rs200005446
|
0.00016
|
|
NM_001271.4(CHD2):c.239C>T (p.Pro80Leu)
|
rs186163798
|
0.00016
|
|
NM_001271.4(CHD2):c.4593-19T>C
|
rs377557426
|
0.00016
|
|
NM_001330260.2(SCN8A):c.5619C>T (p.Phe1873=)
|
rs372752853
|
0.00016
|
|
NM_001353921.2(ARHGEF9):c.1225A>G (p.Ile409Val)
|
rs56110425
|
0.00016
|
|
NM_001353921.2(ARHGEF9):c.579G>A (p.Glu193=)
|
rs56182751
|
0.00016
|
|
NM_001353921.2(ARHGEF9):c.885G>A (p.Lys295=)
|
rs199625034
|
0.00016
|
|
NM_001367561.1(DOCK7):c.3717C>G (p.Ala1239=)
|
rs375372678
|
0.00016
|
|
NM_001367561.1(DOCK7):c.4491G>A (p.Thr1497=)
|
rs373928701
|
0.00016
|
|
NM_001367561.1(DOCK7):c.5208A>T (p.Val1736=)
|
rs144604663
|
0.00016
|
|
NM_001958.5(EEF1A2):c.789C>T (p.Pro263=)
|
rs148075587
|
0.00016
|
|
NM_004408.4(DNM1):c.1335+8G>A
|
rs374438127
|
0.00016
|
|
NM_004408.4(DNM1):c.2430G>A (p.Gly810=)
|
rs1007155416
|
0.00016
|
|
NM_005249.5(FOXG1):c.852G>A (p.Leu284=)
|
rs537686463
|
0.00016
|
|
NM_006030.4(CACNA2D2):c.1614C>T (p.Thr538=)
|
rs375331798
|
0.00016
|
|
NM_007254.4(PNKP):c.1413T>C (p.His471=)
|
rs370017666
|
0.00016
|
|
NM_015192.4(PLCB1):c.1250+17T>A
|
rs776777689
|
0.00016
|
|
NM_020822.3(KCNT1):c.2008+19G>A
|
rs369119562
|
0.00016
|
|
NM_020822.3(KCNT1):c.2220C>G (p.Asp740Glu)
|
rs148162797
|
0.00016
|
|
NM_020822.3(KCNT1):c.3288C>T (p.Gly1096=)
|
rs376167145
|
0.00016
|
|
NM_020822.3(KCNT1):c.585C>T (p.Ile195=)
|
rs148910448
|
0.00016
|
|
NM_139318.5(KCNH5):c.2953G>T (p.Glu985Ter)
|
rs368953680
|
0.00016
|
|
NM_139318.5(KCNH5):c.733A>G (p.Ile245Val)
|
rs754761406
|
0.00016
|
|
NM_139318.5(KCNH5):c.753T>C (p.Asp251=)
|
rs377418939
|
0.00016
|
|
NM_172107.4(KCNQ2):c.2049C>T (p.His683=)
|
rs150982653
|
0.00016
|
|
NM_172107.4(KCNQ2):c.402C>T (p.Ile134=)
|
rs140712277
|
0.00016
|
|
NM_172107.4(KCNQ2):c.861C>G (p.Thr287=)
|
rs11698044
|
0.00016
|
|
NM_177550.5(SLC13A5):c.1156+9C>T
|
rs201530285
|
0.00016
|
|
NM_177550.5(SLC13A5):c.285C>T (p.Ile95=)
|
rs149068818
|
0.00016
|
|
NM_203446.3(SYNJ1):c.3517+13G>C
|
rs370311881
|
0.00016
|
|
NM_203446.3(SYNJ1):c.3746C>T (p.Pro1249Leu)
|
rs149288077
|
0.00016
|
|
NM_203446.3(SYNJ1):c.421T>C (p.Leu141=)
|
rs140461566
|
0.00016
|
|
NM_203446.3(SYNJ1):c.435G>A (p.Ala145=)
|
rs151248057
|
0.00016
|
|
NM_203446.3(SYNJ1):c.831C>T (p.Ala277=)
|
rs148732160
|
0.00016
|
|
NM_000834.5(GRIN2B):c.2481G>A (p.Ala827=)
|
rs189384622
|
0.00015
|
|
NM_001032221.6(STXBP1):c.1462-12T>C
|
rs370261480
|
0.00015
|
|
NM_001040142.2(SCN2A):c.5468A>C (p.Asp1823Ala)
|
rs138497939
|
0.00015
|
|
NM_001127222.2(CACNA1A):c.5987C>T (p.Thr1996Met)
|
rs778274864
|
0.00015
|
|
NM_001130438.3(SPTAN1):c.4850T>C (p.Met1617Thr)
|
rs753106083
|
0.00015
|
|
NM_001165963.4(SCN1A):c.3717T>C (p.Asp1239=)
|
rs376579606
|
0.00015
|
|
NM_001191061.2(SLC25A22):c.678C>T (p.Tyr226=)
|
rs200072903
|
0.00015
|
|
NM_001330260.2(SCN8A):c.369A>G (p.Arg123=)
|
rs201765273
|
0.00015
|
|
NM_001330260.2(SCN8A):c.804C>T (p.Ile268=)
|
rs375241678
|
0.00015
|
|
NM_001353921.2(ARHGEF9):c.1488G>A (p.Ser496=)
|
rs782580975
|
0.00015
|
|
NM_001367561.1(DOCK7):c.6C>A (p.Ala2=)
|
rs980413183
|
0.00015
|
|
NM_014334.4(FRRS1L):c.39G>A (p.Ala13=)
|
rs773235133
|
0.00015
|
|
NM_020822.3(KCNT1):c.2350-10C>T
|
rs367855961
|
0.00015
|
|
NM_020822.3(KCNT1):c.2595-9C>T
|
rs369966222
|
0.00015
|
|
NM_021072.4(HCN1):c.24C>T (p.Asn8=)
|
rs753690439
|
0.00015
|
|
NM_031844.3(HNRNPU):c.83A>G (p.Lys28Arg)
|
rs200952460
|
0.00015
|
|
NM_172107.4(KCNQ2):c.1698C>T (p.Asp566=)
|
rs768228902
|
0.00015
|
|
NM_172107.4(KCNQ2):c.1832C>T (p.Ala611Val)
|
rs199644682
|
0.00015
|
|
NM_172107.4(KCNQ2):c.2385C>T (p.His795=)
|
rs143016981
|
0.00015
|
|
NM_172107.4(KCNQ2):c.792C>T (p.Tyr264=)
|
rs143399744
|
0.00015
|
|
NM_177550.5(SLC13A5):c.1276-19C>A
|
rs200223186
|
0.00015
|
|
NM_177550.5(SLC13A5):c.504C>T (p.Ala168=)
|
rs141506210
|
0.00015
|
|
NM_000834.5(GRIN2B):c.2712G>A (p.Thr904=)
|
rs199843136
|
0.00014
|
|
NM_000834.5(GRIN2B):c.291G>A (p.Val97=)
|
rs202223470
|
0.00014
|
|
NM_000834.5(GRIN2B):c.3462C>T (p.Ile1154=)
|
rs373548904
|
0.00014
|
|
NM_001099922.3(ALG13):c.13T>C (p.Phe5Leu)
|
rs199754211
|
0.00014
|
|
NM_001099922.3(ALG13):c.2070T>C (p.Asp690=)
|
rs371239344
|
0.00014
|
|
NM_001099922.3(ALG13):c.2802T>A (p.Pro934=)
|
rs865879266
|
0.00014
|
|
NM_001127222.2(CACNA1A):c.5259C>T (p.Thr1753=)
|
rs376684786
|
0.00014
|
|
NM_001127222.2(CACNA1A):c.5840-7C>T
|
rs372261381
|
0.00014
|
|
NM_001127222.2(CACNA1A):c.6084G>A (p.Pro2028=)
|
rs374954726
|
0.00014
|
|
NM_001127222.2(CACNA1A):c.6483C>T (p.Arg2161=)
|
rs745609731
|
0.00014
|
|
NM_001127222.2(CACNA1A):c.6760G>C (p.Glu2254Gln)
|
rs779063280
|
0.00014
|
|
NM_001130438.3(SPTAN1):c.1011G>A (p.Glu337=)
|
rs376280897
|
0.00014
|
|
NM_001130438.3(SPTAN1):c.1086-4C>G
|
rs367718622
|
0.00014
|
|
NM_001130438.3(SPTAN1):c.3519+13_3519+14del
|
rs764260912
|
0.00014
|
|
NM_001130438.3(SPTAN1):c.4239C>T (p.Ser1413=)
|
rs150097844
|
0.00014
|
|
NM_001130438.3(SPTAN1):c.5171G>T (p.Ser1724Ile)
|
rs375195855
|
0.00014
|
|
NM_001130438.3(SPTAN1):c.5439G>T (p.Arg1813=)
|
rs766924448
|
0.00014
|
|
NM_001130438.3(SPTAN1):c.7161-8G>A
|
rs202180736
|
0.00014
|
|
NM_001165963.4(SCN1A):c.2770G>A (p.Ala924Thr)
|
rs141950573
|
0.00014
|
|
NM_001165963.4(SCN1A):c.3591A>G (p.Glu1197=)
|
rs371596040
|
0.00014
|
|
NM_001165963.4(SCN1A):c.4002+2640A>C
|
rs534632576
|
0.00014
|
|
NM_001165963.4(SCN1A):c.5217C>T (p.Pro1739=)
|
rs149315236
|
0.00014
|
|
NM_001165963.4(SCN1A):c.579C>T (p.Leu193=)
|
rs116478064
|
0.00014
|
|
NM_001184880.2(PCDH19):c.3037C>A (p.Arg1013=)
|
rs376406896
|
0.00014
|
|
NM_001191061.2(SLC25A22):c.742+9A>G
|
rs370309722
|
0.00014
|
|
NM_001191061.2(SLC25A22):c.930C>T (p.Ile310=)
|
rs765908991
|
0.00014
|
|
NM_001271.4(CHD2):c.4485G>A (p.Val1495=)
|
rs143356457
|
0.00014
|
|
NM_001271.4(CHD2):c.891C>T (p.Asp297=)
|
rs567353575
|
0.00014
|
|
NM_001330260.2(SCN8A):c.177G>A (p.Leu59=)
|
rs147027699
|
0.00014
|
|
NM_001330260.2(SCN8A):c.2586C>T (p.Asn862=)
|
rs377396450
|
0.00014
|
|
NM_001367561.1(DOCK7):c.1860A>G (p.Val620=)
|
rs144838791
|
0.00014
|
|
NM_001367561.1(DOCK7):c.3300+8A>G
|
rs368422761
|
0.00014
|
|
NM_004975.4(KCNB1):c.1551G>A (p.Ser517=)
|
rs377030406
|
0.00014
|
|
NM_006030.4(CACNA2D2):c.1260+20G>A
|
rs587741526
|
0.00014
|
|
NM_006030.4(CACNA2D2):c.2028C>T (p.His676=)
|
rs375385112
|
0.00014
|
|
NM_006030.4(CACNA2D2):c.2721C>T (p.Phe907=)
|
rs140117542
|
0.00014
|
|
NM_007254.4(PNKP):c.1448+13A>G
|
rs748882543
|
0.00014
|
|
NM_015509.4(NECAP1):c.714G>A (p.Thr238=)
|
rs759118416
|
0.00014
|
|
NM_020708.5(SLC12A5):c.2439G>A (p.Met813Ile)
|
rs200191107
|
0.00014
|
|
NM_020822.3(KCNT1):c.1788C>T (p.Ile596=)
|
rs373444768
|
0.00014
|
|
NM_020822.3(KCNT1):c.1852G>A (p.Ala618Thr)
|
rs756996609
|
0.00014
|
|
NM_020822.3(KCNT1):c.3058C>T (p.Arg1020Cys)
|
rs747605326
|
0.00014
|
|
NM_020822.3(KCNT1):c.3066C>T (p.Tyr1022=)
|
rs766717782
|
0.00014
|
|
NM_020822.3(KCNT1):c.3246C>T (p.Arg1082=)
|
rs765774534
|
0.00014
|
|
NM_020822.3(KCNT1):c.3317G>A (p.Arg1106Gln)
|
rs561255614
|
0.00014
|
|
NM_020822.3(KCNT1):c.708C>T (p.Ile236=)
|
rs148038658
|
0.00014
|
|
NM_021072.4(HCN1):c.181G>C (p.Val61Leu)
|
rs900254081
|
0.00014
|
|
NM_021072.4(HCN1):c.1902G>A (p.Gln634=)
|
rs192503845
|
0.00014
|
|
NM_139318.5(KCNH5):c.1347G>A (p.Ser449=)
|
rs776652131
|
0.00014
|
|
NM_152743.4(BRAT1):c.354C>T (p.Thr118=)
|
rs148913309
|
0.00014
|
|
NM_177550.5(SLC13A5):c.144C>T (p.Tyr48=)
|
rs138537951
|
0.00014
|
|
NM_177550.5(SLC13A5):c.927G>A (p.Leu309=)
|
rs141287518
|
0.00014
|
|
NM_203446.3(SYNJ1):c.-34C>T
|
rs968709804
|
0.00014
|
|
NM_001032221.6(STXBP1):c.282G>T (p.Pro94=)
|
rs140873342
|
0.00013
|
|
NM_001040142.2(SCN2A):c.3954C>A (p.Ser1318=)
|
rs139507841
|
0.00013
|
|
NM_001099922.3(ALG13):c.1747A>G (p.Ile583Val)
|
rs377397506
|
0.00013
|
|
NM_001099922.3(ALG13):c.1955G>A (p.Gly652Asp)
|
rs372209528
|
0.00013
|
|
NM_001127222.2(CACNA1A):c.4388+8G>A
|
rs376248243
|
0.00013
|
|
NM_001127222.2(CACNA1A):c.539+20C>T
|
rs369959565
|
0.00013
|
|
NM_001127222.2(CACNA1A):c.539+9C>T
|
rs369146237
|
0.00013
|
|
NM_001165963.4(SCN1A):c.1080T>C (p.Tyr360=)
|
rs371270088
|
0.00013
|
|
NM_001191061.2(SLC25A22):c.897C>T (p.Phe299=)
|
rs7124179
|
0.00013
|
|
NM_001330260.2(SCN8A):c.3582C>T (p.Ile1194=)
|
rs756909923
|
0.00013
|
|
NM_001367561.1(DOCK7):c.5880A>G (p.Gln1960=)
|
rs144056137
|
0.00013
|
|
NM_001958.5(EEF1A2):c.843G>A (p.Ala281=)
|
rs139282309
|
0.00013
|
|
NM_004974.4(KCNA2):c.618C>T (p.Ser206=)
|
rs566902174
|
0.00013
|
|
NM_006030.4(CACNA2D2):c.284G>A (p.Arg95His)
|
rs149979955
|
0.00013
|
|
NM_007254.4(PNKP):c.1257C>T (p.Val419=)
|
rs369003964
|
0.00013
|
|
NM_007254.4(PNKP):c.730G>C (p.Gly244Arg)
|
rs562480894
|
0.00013
|
|
NM_015192.4(PLCB1):c.2088C>T (p.Tyr696=)
|
rs189186909
|
0.00013
|
|
NM_015192.4(PLCB1):c.2308+11dup
|
rs753502275
|
0.00013
|
|
NM_015192.4(PLCB1):c.724G>A (p.Val242Ile)
|
rs200567140
|
0.00013
|
|
NM_020708.5(SLC12A5):c.481+11G>A
|
rs191849612
|
0.00013
|
|
NM_020988.3(GNAO1):c.195C>T (p.Asp65=)
|
rs368113345
|
0.00013
|
|
NM_021072.4(HCN1):c.1521C>T (p.Ala507=)
|
rs55642950
|
0.00013
|
|
NM_031844.3(HNRNPU):c.621G>A (p.Gln207=)
|
rs759528610
|
0.00013
|
|
NM_031844.3(HNRNPU):c.691+8C>T
|
rs751316536
|
0.00013
|
|
NM_152743.4(BRAT1):c.1134+9G>A
|
rs752297498
|
0.00013
|
|
NM_152743.4(BRAT1):c.1941C>T (p.Asp647=)
|
rs376101375
|
0.00013
|
|
NM_173354.5(SIK1):c.1198G>T (p.Val400Phe)
|
rs746671842
|
0.00013
|
|
NM_177550.5(SLC13A5):c.103-15G>A
|
rs374410291
|
0.00013
|
|
NM_177550.5(SLC13A5):c.1291G>A (p.Val431Met)
|
rs201036096
|
0.00013
|
|
NM_177550.5(SLC13A5):c.681G>A (p.Thr227=)
|
rs139698810
|
0.00013
|
|
NM_177550.5(SLC13A5):c.882C>T (p.Asn294=)
|
rs143504660
|
0.00013
|
|
NM_203446.3(SYNJ1):c.1257T>G (p.Thr419=)
|
rs76972835
|
0.00013
|
|
NM_203446.3(SYNJ1):c.2739C>T (p.Ala913=)
|
rs267606107
|
0.00013
|
|
NM_001032221.6(STXBP1):c.170-9G>T
|
rs769006053
|
0.00012
|
|
NM_001040142.2(SCN2A):c.2050C>T (p.Arg684Trp)
|
rs200783308
|
0.00012
|
|
NM_001040142.2(SCN2A):c.2919+8G>A
|
rs552318566
|
0.00012
|
|
NM_001040142.2(SCN2A):c.4823-15G>A
|
rs375524288
|
0.00012
|
|
NM_001099922.3(ALG13):c.417T>C (p.Ile139=)
|
rs748326545
|
0.00012
|
|
NM_001127222.2(CACNA1A):c.3618A>G (p.Glu1206=)
|
rs201236364
|
0.00012
|
|
NM_001127222.2(CACNA1A):c.6526+11C>G
|
rs767916527
|
0.00012
|
|
NM_001127222.2(CACNA1A):c.6584G>A (p.Arg2195Gln)
|
rs373192655
|
0.00012
|
|
NM_001130438.3(SPTAN1):c.3970C>T (p.Leu1324=)
|
rs147233101
|
0.00012
|
|
NM_001130438.3(SPTAN1):c.4543G>A (p.Gly1515Ser)
|
rs149899658
|
0.00012
|
|
NM_001130438.3(SPTAN1):c.4773+13T>A
|
rs539111821
|
0.00012
|
|
NM_001130438.3(SPTAN1):c.4774-18T>A
|
rs534497861
|
0.00012
|
|
NM_001130438.3(SPTAN1):c.7359C>T (p.Tyr2453=)
|
rs138634476
|
0.00012
|
|
NM_001184880.2(PCDH19):c.1330A>G (p.Thr444Ala)
|
rs201671718
|
0.00012
|
|
NM_001184880.2(PCDH19):c.3012T>C (p.Ala1004=)
|
rs181719144
|
0.00012
|
|
NM_001199107.2(TBC1D24):c.1026G>A (p.Ser342=)
|
rs370244846
|
0.00012
|
|
NM_001323289.2(CDKL5):c.2555C>T (p.Pro852Leu)
|
rs587783156
|
0.00012
|
|
NM_001330260.2(SCN8A):c.1998+8T>C
|
rs749881958
|
0.00012
|
|
NM_001958.5(EEF1A2):c.621+10G>A
|
rs750169560
|
0.00012
|
|
NM_004975.4(KCNB1):c.2364G>A (p.Thr788=)
|
rs112132596
|
0.00012
|
|
NM_005249.5(FOXG1):c.1161G>A (p.Ser387=)
|
rs147154860
|
0.00012
|
|
NM_006030.4(CACNA2D2):c.2029G>A (p.Val677Ile)
|
rs139307131
|
0.00012
|
|
NM_015192.4(PLCB1):c.1761A>G (p.Val587=)
|
rs143755415
|
0.00012
|
|
NM_015192.4(PLCB1):c.28G>T (p.Ala10Ser)
|
rs150241349
|
0.00012
|
|
NM_015509.4(NECAP1):c.196+12G>A
|
rs371530521
|
0.00012
|
|
NM_020708.5(SLC12A5):c.1977C>A (p.Arg659=)
|
rs1397496364
|
0.00012
|
|
NM_020708.5(SLC12A5):c.273G>A (p.Pro91=)
|
rs183377866
|
0.00012
|
|
NM_020822.3(KCNT1):c.1149C>T (p.Ile383=)
|
rs144977019
|
0.00012
|
|
NM_020822.3(KCNT1):c.1827C>T (p.Asn609=)
|
rs142534422
|
0.00012
|
|
NM_020822.3(KCNT1):c.1899G>A (p.Ser633=)
|
rs371135108
|
0.00012
|
|
NM_020822.3(KCNT1):c.477C>G (p.Ser159=)
|
rs200157100
|
0.00012
|
|
NM_020988.3(GNAO1):c.660G>A (p.Thr220=)
|
rs189380751
|
0.00012
|
|
NM_139058.3(ARX):c.1599C>G (p.Ala533=)
|
rs1057523196
|
0.00012
|
|
NM_139058.3(ARX):c.708T>C (p.Asp236=)
|
rs763458576
|
0.00012
|
|
NM_139318.5(KCNH5):c.1884G>A (p.Ala628=)
|
rs776100358
|
0.00012
|
|
NM_172107.4(KCNQ2):c.1539C>T (p.Pro513=)
|
rs376713245
|
0.00012
|
|
NM_177550.5(SLC13A5):c.369-12C>T
|
rs375349735
|
0.00012
|
|
NM_203446.3(SYNJ1):c.3753T>G (p.Ser1251=)
|
rs150595970
|
0.00012
|
|
NM_001032221.6(STXBP1):c.1350C>T (p.Ile450=)
|
rs371948798
|
0.00011
|
|
NM_001032221.6(STXBP1):c.561G>A (p.Pro187=)
|
rs972703931
|
0.00011
|
|
NM_001040142.2(SCN2A):c.5121G>A (p.Leu1707=)
|
rs377063535
|
0.00011
|
|
NM_001040142.2(SCN2A):c.5752C>T (p.Arg1918Cys)
|
rs139899756
|
0.00011
|
|
NM_001099922.3(ALG13):c.2787A>G (p.Pro929=)
|
rs772431643
|
0.00011
|
|
NM_001127222.2(CACNA1A):c.1782-6C>T
|
rs201350764
|
0.00011
|
|
NM_001127222.2(CACNA1A):c.5400+18G>A
|
rs16040
|
0.00011
|
|
NM_001127222.2(CACNA1A):c.6468C>T (p.Arg2156=)
|
rs745336852
|
0.00011
|
|
NM_001127222.2(CACNA1A):c.6573G>A (p.Pro2191=)
|
rs554430594
|
0.00011
|
|
NM_001127222.2(CACNA1A):c.924G>A (p.Val308=)
|
rs754935637
|
0.00011
|
|
NM_001130438.3(SPTAN1):c.1324-12T>C
|
rs371641680
|
0.00011
|
|
NM_001130438.3(SPTAN1):c.1527C>T (p.His509=)
|
rs201555611
|
0.00011
|
|
NM_001130438.3(SPTAN1):c.1806+15G>T
|
rs372203791
|
0.00011
|
|
NM_001130438.3(SPTAN1):c.2871+9G>A
|
rs774094821
|
0.00011
|
|
NM_001130438.3(SPTAN1):c.4147-13C>G
|
rs374834326
|
0.00011
|
|
NM_001130438.3(SPTAN1):c.5044-4C>T
|
rs749484552
|
0.00011
|
|
NM_001130438.3(SPTAN1):c.7296G>A (p.Glu2432=)
|
rs765393647
|
0.00011
|
|
NM_001130438.3(SPTAN1):c.959G>A (p.Arg320His)
|
rs140076136
|
0.00011
|
|
NM_001165963.4(SCN1A):c.1680T>C (p.Arg560=)
|
rs145662732
|
0.00011
|
|
NM_001165963.4(SCN1A):c.1739G>A (p.Arg580Gln)
|
rs544692790
|
0.00011
|
|
NM_001165963.4(SCN1A):c.3498G>A (p.Gln1166=)
|
rs145410000
|
0.00011
|
|
NM_001165963.4(SCN1A):c.379C>G (p.His127Asp)
|
rs148442069
|
0.00011
|
|
NM_001165963.4(SCN1A):c.4002+2621C>T
|
rs1165497884
|
0.00011
|
|
NM_001165963.4(SCN1A):c.5639G>A (p.Gly1880Glu)
|
rs201905405
|
0.00011
|
|
NM_001184880.2(PCDH19):c.1107C>T (p.Ala369=)
|
rs199879056
|
0.00011
|
|
NM_001184880.2(PCDH19):c.2965A>C (p.Asn989His)
|
rs201611496
|
0.00011
|
|
NM_001191061.2(SLC25A22):c.147-10T>G
|
rs779613015
|
0.00011
|
|
NM_001191061.2(SLC25A22):c.834C>T (p.His278=)
|
rs187824231
|
0.00011
|
|
NM_001199107.2(TBC1D24):c.1620C>T (p.Ser540=)
|
rs781723084
|
0.00011
|
|
NM_001199107.2(TBC1D24):c.447C>T (p.Ala149=)
|
rs755794991
|
0.00011
|
|
NM_001271.4(CHD2):c.4953C>T (p.Gly1651=)
|
rs201939255
|
0.00011
|
|
NM_001271.4(CHD2):c.5033G>A (p.Arg1678Gln)
|
rs201628571
|
0.00011
|
|
NM_001323289.2(CDKL5):c.2673G>A (p.Gln891=)
|
rs373448935
|
0.00011
|
|
NM_001330260.2(SCN8A):c.1341+9T>C
|
rs373377688
|
0.00011
|
|
NM_001330260.2(SCN8A):c.5046C>T (p.Ile1682=)
|
rs376759643
|
0.00011
|
|
NM_001330260.2(SCN8A):c.5761A>C (p.Thr1921Pro)
|
rs368796221
|
0.00011
|
|
NM_001330723.2(SNX27):c.1017C>T (p.His339=)
|
rs376664632
|
0.00011
|
|
NM_001330723.2(SNX27):c.1347G>A (p.Thr449=)
|
rs781281484
|
0.00011
|
|
NM_001367561.1(DOCK7):c.3669C>T (p.His1223=)
|
rs144633387
|
0.00011
|
|
NM_001367561.1(DOCK7):c.4056A>G (p.Ser1352=)
|
rs144949335
|
0.00011
|
|
NM_001367561.1(DOCK7):c.58A>C (p.Arg20=)
|
rs141286539
|
0.00011
|
|
NM_004975.4(KCNB1):c.630G>A (p.Thr210=)
|
rs150723418
|
0.00011
|
|
NM_006030.4(CACNA2D2):c.3180T>A (p.Ala1060=)
|
rs138596435
|
0.00011
|
|
NM_006030.4(CACNA2D2):c.391G>A (p.Val131Met)
|
rs199936910
|
0.00011
|
|
NM_007254.4(PNKP):c.579-4G>A
|
rs371834726
|
0.00011
|
|
NM_007254.4(PNKP):c.816+14C>T
|
rs376371644
|
0.00011
|
|
NM_015192.4(PLCB1):c.1539C>T (p.Asp513=)
|
rs199565459
|
0.00011
|
|
NM_015192.4(PLCB1):c.2868G>A (p.Gln956=)
|
rs149312175
|
0.00011
|
|
NM_015509.4(NECAP1):c.196+19C>T
|
rs770618397
|
0.00011
|
|
NM_015509.4(NECAP1):c.780-13T>C
|
rs200758236
|
0.00011
|
|
NM_016373.4(WWOX):c.420C>T (p.Thr140=)
|
rs374644172
|
0.00011
|
|
NM_016373.4(WWOX):c.786C>T (p.Ser262=)
|
rs376709568
|
0.00011
|
|
NM_020708.5(SLC12A5):c.2499C>T (p.His833=)
|
rs371925559
|
0.00011
|
|
NM_020708.5(SLC12A5):c.279+11C>T
|
rs367964567
|
0.00011
|
|
NM_020708.5(SLC12A5):c.834C>T (p.Ala278=)
|
rs138250479
|
0.00011
|
|
NM_020822.3(KCNT1):c.1152C>T (p.Asp384=)
|
rs763854215
|
0.00011
|
|
NM_020822.3(KCNT1):c.1422C>T (p.Arg474=)
|
rs372250372
|
0.00011
|
|
NM_020822.3(KCNT1):c.2673C>T (p.Ala891=)
|
rs373503298
|
0.00011
|
|
NM_020822.3(KCNT1):c.2898C>T (p.Ala966=)
|
rs762968242
|
0.00011
|
|
NM_021072.4(HCN1):c.2251C>G (p.Pro751Ala)
|
rs758226055
|
0.00011
|
|
NM_021072.4(HCN1):c.2445C>A (p.Ile815=)
|
rs375360013
|
0.00011
|
|
NM_139318.5(KCNH5):c.1119C>T (p.Tyr373=)
|
rs765619899
|
0.00011
|
|
NM_139318.5(KCNH5):c.1217C>G (p.Ala406Gly)
|
rs143926897
|
0.00011
|
|
NM_139318.5(KCNH5):c.304+14T>C
|
rs375852116
|
0.00011
|
|
NM_152743.4(BRAT1):c.1164G>A (p.Ala388=)
|
rs201141165
|
0.00011
|
|
NM_152743.4(BRAT1):c.430+10C>T
|
rs748004693
|
0.00011
|
|
NM_172107.4(KCNQ2):c.1301+7C>T
|
rs374877247
|
0.00011
|
|
NM_172107.4(KCNQ2):c.1632-18C>A
|
rs368910668
|
0.00011
|
|
NM_172107.4(KCNQ2):c.2265C>T (p.Tyr755=)
|
rs563437123
|
0.00011
|
|
NM_173354.5(SIK1):c.1088G>A (p.Arg363Gln)
|
rs528905001
|
0.00011
|
|
NM_173728.4(ARHGEF15):c.204A>G (p.Ala68=)
|
rs144703076
|
0.00011
|
|
NM_173728.4(ARHGEF15):c.504A>G (p.Ala168=)
|
rs550687567
|
0.00011
|
|
NM_177550.5(SLC13A5):c.60C>T (p.Thr20=)
|
rs141481217
|
0.00011
|
|
NM_203446.3(SYNJ1):c.2795+16T>A
|
rs533093953
|
0.00011
|
|
NM_000834.5(GRIN2B):c.2172-6G>A
|
rs201390691
|
0.00010
|
|
NM_000834.5(GRIN2B):c.681C>A (p.Ile227=)
|
rs148254591
|
0.00010
|
|
NM_001040142.2(SCN2A):c.24G>A (p.Pro8=)
|
rs149534277
|
0.00010
|
|
NM_001040142.2(SCN2A):c.2562+5A>G
|
rs374738441
|
0.00010
|
|
NM_001040142.2(SCN2A):c.5850C>T (p.Leu1950=)
|
rs147055283
|
0.00010
|
|
NM_001099922.3(ALG13):c.1922A>G (p.His641Arg)
|
rs766772102
|
0.00010
|
|
NM_001099922.3(ALG13):c.255C>T (p.Ser85=)
|
rs771286138
|
0.00010
|
|
NM_001099922.3(ALG13):c.3379C>T (p.Pro1127Ser)
|
rs372841179
|
0.00010
|
|
NM_001099922.3(ALG13):c.79C>G (p.Gln27Glu)
|
rs1404395085
|
0.00010
|
|
NM_001127222.2(CACNA1A):c.1212C>G (p.Leu404=)
|
rs540579196
|
0.00010
|
|
NM_001127222.2(CACNA1A):c.4290G>A (p.Ala1430=)
|
rs555959123
|
0.00010
|
|
NM_001127222.2(CACNA1A):c.5134-4A>G
|
rs200165596
|
0.00010
|
|
NM_001127222.2(CACNA1A):c.5155G>A (p.Asp1719Asn)
|
rs368257155
|
0.00010
|
|
NM_001130438.3(SPTAN1):c.3441G>A (p.Leu1147=)
|
rs113157213
|
0.00010
|
|
NM_001130438.3(SPTAN1):c.5820C>T (p.Asp1940=)
|
rs147815147
|
0.00010
|
|
NM_001130438.3(SPTAN1):c.7013+18C>T
|
rs368329742
|
0.00010
|
|
NM_001165963.4(SCN1A):c.2811C>T (p.Phe937=)
|
rs558678383
|
0.00010
|
|
NM_001165963.4(SCN1A):c.4002+2535T>A
|
rs766365175
|
0.00010
|
|
NM_001165963.4(SCN1A):c.4906C>A (p.Arg1636=)
|
rs199727342
|
0.00010
|
|
NM_001165963.4(SCN1A):c.597A>G (p.Thr199=)
|
rs398123600
|
0.00010
|
|
NM_001184880.2(PCDH19):c.942G>A (p.Leu314=)
|
rs773740606
|
0.00010
|
|
NM_001191061.2(SLC25A22):c.414C>T (p.Ala138=)
|
rs199887745
|
0.00010
|
|
NM_001367561.1(DOCK7):c.1282+12T>C
|
rs369988812
|
0.00010
|
|
NM_001367561.1(DOCK7):c.1380G>A (p.Thr460=)
|
rs140097849
|
0.00010
|
|
NM_004975.4(KCNB1):c.2105C>T (p.Ala702Val)
|
rs144379782
|
0.00010
|
|
NM_005249.5(FOXG1):c.594C>G (p.Pro198=)
|
rs141088742
|
0.00010
|
|
NM_006030.4(CACNA2D2):c.1908-5C>A
|
rs377584163
|
0.00010
|
|
NM_006030.4(CACNA2D2):c.3291+14G>A
|
rs376000018
|
0.00010
|
|
NM_006030.4(CACNA2D2):c.3315C>T (p.Arg1105=)
|
rs186468159
|
0.00010
|
|
NM_006279.5(ST3GAL3):c.303-11T>C
|
rs772998180
|
0.00010
|
|
NM_006279.5(ST3GAL3):c.684C>T (p.Leu228=)
|
rs376627212
|
0.00010
|
|
NM_007254.4(PNKP):c.885C>T (p.Ala295=)
|
rs763725051
|
0.00010
|
|
NM_007254.4(PNKP):c.936+16C>G
|
rs369723968
|
0.00010
|
|
NM_007254.4(PNKP):c.994C>T (p.Pro332Ser)
|
rs373922574
|
0.00010
|
|
NM_016373.4(WWOX):c.1170C>T (p.Ser390=)
|
rs372635911
|
0.00010
|
|
NM_020708.5(SLC12A5):c.2430C>T (p.Asn810=)
|
rs540937956
|
0.00010
|
|
NM_020822.3(KCNT1):c.1725C>T (p.Tyr575=)
|
rs373520472
|
0.00010
|
|
NM_020822.3(KCNT1):c.1995C>T (p.Ile665=)
|
rs757811625
|
0.00010
|
|
NM_020822.3(KCNT1):c.2051C>T (p.Thr684Met)
|
rs377506738
|
0.00010
|
|
NM_020822.3(KCNT1):c.601-12G>A
|
rs765238793
|
0.00010
|
|
NM_139058.3(ARX):c.1104C>T (p.Thr368=)
|
rs771822246
|
0.00010
|
|
NM_139058.3(ARX):c.1488C>T (p.Thr496=)
|
rs773666007
|
0.00010
|
|
NM_139318.5(KCNH5):c.2789C>T (p.Ala930Val)
|
rs562140660
|
0.00010
|
|
NM_152743.4(BRAT1):c.1803C>T (p.Ser601=)
|
rs780768362
|
0.00010
|
|
NM_152743.4(BRAT1):c.679C>T (p.Arg227Cys)
|
rs79263074
|
0.00010
|
|
NM_152743.4(BRAT1):c.705C>G (p.Ala235=)
|
rs141151507
|
0.00010
|
|
NM_172107.4(KCNQ2):c.2330C>G (p.Pro777Arg)
|
rs142729516
|
0.00010
|
|
NM_172107.4(KCNQ2):c.2571C>T (p.Thr857=)
|
rs764525788
|
0.00010
|
|
NM_173354.5(SIK1):c.1143C>T (p.Thr381=)
|
rs201261435
|
0.00010
|
|
NM_173354.5(SIK1):c.1457C>T (p.Ala486Val)
|
rs369897512
|
0.00010
|
|
NM_173354.5(SIK1):c.1594G>A (p.Ala532Thr)
|
rs761551726
|
0.00010
|
|
NM_173354.5(SIK1):c.1623C>T (p.Pro541=)
|
rs377361018
|
0.00010
|
|
NM_173354.5(SIK1):c.1875G>T (p.Leu625=)
|
rs376554812
|
0.00010
|
|
NM_173354.5(SIK1):c.2208C>T (p.Thr736=)
|
rs377024605
|
0.00010
|
|
NM_173354.5(SIK1):c.973-19C>T
|
rs372086652
|
0.00010
|
|
NM_173728.4(ARHGEF15):c.601+12G>A
|
rs372262256
|
0.00010
|
|
NM_173728.4(ARHGEF15):c.602-13C>T
|
rs371407417
|
0.00010
|
|
NM_177550.5(SLC13A5):c.321G>A (p.Lys107=)
|
rs138023567
|
0.00010
|
|
NM_177550.5(SLC13A5):c.357C>T (p.Ala119=)
|
rs748950933
|
0.00010
|
|
NM_203446.3(SYNJ1):c.38T>C (p.Leu13Ser)
|
rs779059079
|
0.00010
|
|
NM_000330.4(RS1):c.185-3093C>G
|
rs1418563117
|
0.00009
|
|
NM_000330.4(RS1):c.185-3213A>C
|
rs143243059
|
0.00009
|
|
NM_000834.5(GRIN2B):c.2808G>A (p.Glu936=)
|
rs77493389
|
0.00009
|
|
NM_000834.5(GRIN2B):c.3957G>A (p.Pro1319=)
|
rs141730031
|
0.00009
|
|
NM_000834.5(GRIN2B):c.4311C>T (p.Ala1437=)
|
rs112265127
|
0.00009
|
|
NM_001040142.2(SCN2A):c.1306T>C (p.Leu436=)
|
rs376323449
|
0.00009
|
|
NM_001040142.2(SCN2A):c.3579C>A (p.Leu1193=)
|
rs367546924
|
0.00009
|
|
NM_001040142.2(SCN2A):c.4110C>T (p.Thr1370=)
|
rs148868382
|
0.00009
|
|
NM_001040142.2(SCN2A):c.4552-16A>T
|
rs555368941
|
0.00009
|
|
NM_001040142.2(SCN2A):c.5541G>A (p.Val1847=)
|
rs371704720
|
0.00009
|
|
NM_001099922.3(ALG13):c.1834C>T (p.Pro612Ser)
|
rs200516126
|
0.00009
|
|
NM_001099922.3(ALG13):c.544T>A (p.Cys182Ser)
|
rs778876158
|
0.00009
|
|
NM_001127222.2(CACNA1A):c.1225A>C (p.Thr409Pro)
|
rs187259531
|
0.00009
|
|
NM_001127222.2(CACNA1A):c.2046C>T (p.Gly682=)
|
rs535077726
|
0.00009
|
|
NM_001127222.2(CACNA1A):c.2105-15C>T
|
rs190471428
|
0.00009
|
|
NM_001127222.2(CACNA1A):c.2867G>T (p.Arg956Leu)
|
rs551380805
|
0.00009
|
|
NM_001127222.2(CACNA1A):c.3544G>A (p.Val1182Ile)
|
rs369742607
|
0.00009
|
|
NM_001127222.2(CACNA1A):c.3564C>T (p.Asn1188=)
|
rs200209920
|
0.00009
|
|
NM_001127222.2(CACNA1A):c.3701G>A (p.Arg1234His)
|
rs373183625
|
0.00009
|
|
NM_001127222.2(CACNA1A):c.3774C>T (p.Ile1258=)
|
rs759641758
|
0.00009
|
|
NM_001127222.2(CACNA1A):c.3883-18C>T
|
rs745383274
|
0.00009
|
|
NM_001127222.2(CACNA1A):c.3911A>C (p.Gln1304Pro)
|
rs755279579
|
0.00009
|
|
NM_001127222.2(CACNA1A):c.4756-4C>T
|
rs199841998
|
0.00009
|
|
NM_001127222.2(CACNA1A):c.5134-20G>A
|
rs756590078
|
0.00009
|
|
NM_001127222.2(CACNA1A):c.539+17A>G
|
rs752280152
|
0.00009
|
|
NM_001127222.2(CACNA1A):c.6051-20G>A
|
rs371831228
|
0.00009
|
|
NM_001127222.2(CACNA1A):c.6257G>T (p.Gly2086Val)
|
rs765051582
|
0.00009
|
|
NM_001127222.2(CACNA1A):c.6694C>T (p.Arg2232Trp)
|
rs751926317
|
0.00009
|
|
NM_001127222.2(CACNA1A):c.6782G>A (p.Gly2261Asp)
|
rs751364653
|
0.00009
|
|
NM_001130438.3(SPTAN1):c.2438-15G>A
|
rs201319189
|
0.00009
|
|
NM_001130438.3(SPTAN1):c.3078C>T (p.Pro1026=)
|
rs779993051
|
0.00009
|
|
NM_001130438.3(SPTAN1):c.4224C>T (p.His1408=)
|
rs200180598
|
0.00009
|
|
NM_001130438.3(SPTAN1):c.5833-10C>T
|
rs1389531374
|
0.00009
|
|
NM_001130438.3(SPTAN1):c.6405C>T (p.Arg2135=)
|
rs767640999
|
0.00009
|
|
NM_001130438.3(SPTAN1):c.6654C>T (p.His2218=)
|
rs372825476
|
0.00009
|
|
NM_001130438.3(SPTAN1):c.7360G>A (p.Val2454Met)
|
rs766616293
|
0.00009
|
|
NM_001165963.4(SCN1A):c.3931G>A (p.Ala1311Thr)
|
rs549152510
|
0.00009
|
|
NM_001165963.4(SCN1A):c.4002+2048C>T
|
rs890146293
|
0.00009
|
|
NM_001165963.4(SCN1A):c.4002+2121A>G
|
rs1036524256
|
0.00009
|
|
NM_001184880.2(PCDH19):c.594C>G (p.Arg198=)
|
rs370348930
|
0.00009
|
|
NM_001191061.2(SLC25A22):c.177C>T (p.Ser59=)
|
rs761165876
|
0.00009
|
|
NM_001191061.2(SLC25A22):c.412+9G>A
|
rs369276282
|
0.00009
|
|
NM_001191061.2(SLC25A22):c.413-12C>T
|
rs587781169
|
0.00009
|
|
NM_001191061.2(SLC25A22):c.579G>A (p.Thr193=)
|
rs141430143
|
0.00009
|
|
NM_001199107.2(TBC1D24):c.1302+14A>C
|
rs528462687
|
0.00009
|
|
NM_001199107.2(TBC1D24):c.1642G>A (p.Val548Met)
|
rs201649140
|
0.00009
|
|
NM_001271.4(CHD2):c.1116G>A (p.Glu372=)
|
rs147482358
|
0.00009
|
|
NM_001271.4(CHD2):c.2792A>G (p.Lys931Arg)
|
rs753058189
|
0.00009
|
|
NM_001271.4(CHD2):c.5389C>T (p.His1797Tyr)
|
rs754174173
|
0.00009
|
|
NM_001271.4(CHD2):c.753A>G (p.Glu251=)
|
rs368486032
|
0.00009
|
|
NM_001323289.2(CDKL5):c.554+10C>T
|
rs755385076
|
0.00009
|
|
NM_001330260.2(SCN8A):c.3491-12C>T
|
rs369532655
|
0.00009
|
|
NM_001330260.2(SCN8A):c.5229C>A (p.Ile1743=)
|
rs370268493
|
0.00009
|
|
NM_001330260.2(SCN8A):c.615-17G>C
|
rs772641973
|
0.00009
|
|
NM_001353921.2(ARHGEF9):c.1060A>C (p.Met354Leu)
|
rs782248986
|
0.00009
|
|
NM_001353921.2(ARHGEF9):c.1386A>G (p.Gln462=)
|
rs782354481
|
0.00009
|
|
NM_001353921.2(ARHGEF9):c.1530A>T (p.Pro510=)
|
rs145815177
|
0.00009
|
|
NM_001353921.2(ARHGEF9):c.31-29583C>A
|
rs370045250
|
0.00009
|
|
NM_001367561.1(DOCK7):c.2904G>A (p.Thr968=)
|
rs370940626
|
0.00009
|
|
NM_001367561.1(DOCK7):c.3611+9A>G
|
rs376790766
|
0.00009
|
|
NM_001367561.1(DOCK7):c.5629T>C (p.Leu1877=)
|
rs145884686
|
0.00009
|
|
NM_001367561.1(DOCK7):c.886-8T>C
|
rs772843743
|
0.00009
|
|
NM_001958.5(EEF1A2):c.621C>T (p.Asn207=)
|
rs544401782
|
0.00009
|
|
NM_004408.4(DNM1):c.1200G>A (p.Thr400=)
|
rs373198034
|
0.00009
|
|
NM_004408.4(DNM1):c.1315G>A (p.Val439Ile)
|
rs771062230
|
0.00009
|
|
NM_004408.4(DNM1):c.2364G>A (p.Val788=)
|
rs904300233
|
0.00009
|
|
NM_004408.4(DNM1):c.797G>A (p.Arg266His)
|
rs200136679
|
0.00009
|
|
NM_004975.4(KCNB1):c.1071C>T (p.Asp357=)
|
rs199964916
|
0.00009
|
|
NM_004975.4(KCNB1):c.1305T>C (p.Ala435=)
|
rs201403239
|
0.00009
|
|
NM_004975.4(KCNB1):c.2115C>T (p.Val705=)
|
rs199910304
|
0.00009
|
|
NM_004975.4(KCNB1):c.2472C>T (p.Gly824=)
|
rs375177375
|
0.00009
|
|
NM_006030.4(CACNA2D2):c.2526G>A (p.Glu842=)
|
rs138333067
|
0.00009
|
|
NM_006030.4(CACNA2D2):c.513C>T (p.Asp171=)
|
rs202245003
|
0.00009
|
|
NM_006030.4(CACNA2D2):c.842+7G>A
|
rs587703843
|
0.00009
|
|
NM_006279.5(ST3GAL3):c.166+8C>T
|
rs372849609
|
0.00009
|
|
NM_006279.5(ST3GAL3):c.495T>C (p.Asn165=)
|
rs369936290
|
0.00009
|
|
NM_006279.5(ST3GAL3):c.900T>C (p.Pro300=)
|
rs563317319
|
0.00009
|
|
NM_007254.4(PNKP):c.151+11C>T
|
rs587781113
|
0.00009
|
|
NM_007254.4(PNKP):c.151+18T>G
|
rs55756709
|
0.00009
|
|
NM_007254.4(PNKP):c.579-18G>A
|
rs199541652
|
0.00009
|
|
NM_007254.4(PNKP):c.822C>T (p.Asn274=)
|
rs780677866
|
0.00009
|
|
NM_014334.4(FRRS1L):c.30G>C (p.Gly10=)
|
rs895585877
|
0.00009
|
|
NM_015509.4(NECAP1):c.252G>A (p.Thr84=)
|
rs149036367
|
0.00009
|
|
NM_020708.5(SLC12A5):c.1148C>T (p.Thr383Ile)
|
rs201727005
|
0.00009
|
|
NM_020708.5(SLC12A5):c.1401C>T (p.Gly467=)
|
rs545847050
|
0.00009
|
|
NM_020708.5(SLC12A5):c.2840C>G (p.Ala947Gly)
|
rs199934904
|
0.00009
|
|
NM_020822.3(KCNT1):c.1431C>T (p.Ala477=)
|
rs375534850
|
0.00009
|
|
NM_020822.3(KCNT1):c.151G>C (p.Gly51Arg)
|
rs148808978
|
0.00009
|
|
NM_020822.3(KCNT1):c.2052G>A (p.Thr684=)
|
rs376314779
|
0.00009
|
|
NM_020822.3(KCNT1):c.2187C>T (p.Ser729=)
|
rs150222138
|
0.00009
|
|
NM_020822.3(KCNT1):c.2527G>A (p.Asp843Asn)
|
rs376758763
|
0.00009
|
|
NM_020822.3(KCNT1):c.3036C>T (p.Ile1012=)
|
rs201120894
|
0.00009
|
|
NM_020822.3(KCNT1):c.981G>A (p.Ser327=)
|
rs373317695
|
0.00009
|
|
NM_021072.4(HCN1):c.1011+12C>A
|
rs755646529
|
0.00009
|
|
NM_021072.4(HCN1):c.2008G>A (p.Ala670Thr)
|
rs373454105
|
0.00009
|
|
NM_031844.3(HNRNPU):c.1654C>T (p.Leu552=)
|
rs115612462
|
0.00009
|
|
NM_152743.4(BRAT1):c.1134+13C>T
|
rs376898680
|
0.00009
|
|
NM_152743.4(BRAT1):c.1455C>T (p.Pro485=)
|
rs555986902
|
0.00009
|
|
NM_152743.4(BRAT1):c.1680T>C (p.Tyr560=)
|
rs370935312
|
0.00009
|
|
NM_152743.4(BRAT1):c.1878C>T (p.Asp626=)
|
rs369763195
|
0.00009
|
|
NM_152743.4(BRAT1):c.2004G>A (p.Pro668=)
|
rs368232132
|
0.00009
|
|
NM_152743.4(BRAT1):c.576C>T (p.Pro192=)
|
rs374294371
|
0.00009
|
|
NM_152743.4(BRAT1):c.774G>A (p.Ser258=)
|
rs376321695
|
0.00009
|
|
NM_172107.4(KCNQ2):c.1525+15A>G
|
rs751304217
|
0.00009
|
|
NM_172107.4(KCNQ2):c.2373G>A (p.Pro791=)
|
rs749958721
|
0.00009
|
|
NM_172107.4(KCNQ2):c.927+20C>T
|
rs377575523
|
0.00009
|
|
NM_173354.5(SIK1):c.1069G>A (p.Gly357Arg)
|
rs771103431
|
0.00009
|
|
NM_173354.5(SIK1):c.807C>T (p.Ile269=)
|
rs761649307
|
0.00009
|
|
NM_173728.4(ARHGEF15):c.1790G>A (p.Arg597His)
|
rs747972645
|
0.00009
|
|
NM_173728.4(ARHGEF15):c.2186+14C>T
|
rs371162185
|
0.00009
|
|
NM_203446.3(SYNJ1):c.2205C>T (p.Ile735=)
|
rs149236383
|
0.00009
|
|
NM_203446.3(SYNJ1):c.2325A>G (p.Glu775=)
|
rs547415470
|
0.00009
|
|
NM_203446.3(SYNJ1):c.3762C>T (p.Pro1254=)
|
rs201117151
|
0.00009
|
|
NM_000834.5(GRIN2B):c.3493G>A (p.Asp1165Asn)
|
rs769857006
|
0.00008
|
|
NM_000834.5(GRIN2B):c.513C>T (p.Ile171=)
|
rs3026183
|
0.00008
|
|
NM_001040142.2(SCN2A):c.1384-10G>A
|
rs752259362
|
0.00008
|
|
NM_001040142.2(SCN2A):c.1384-4C>G
|
rs113191507
|
0.00008
|
|
NM_001040142.2(SCN2A):c.2292C>T (p.Ala764=)
|
rs760963593
|
0.00008
|
|
NM_001040142.2(SCN2A):c.5568C>T (p.Asp1856=)
|
rs144058186
|
0.00008
|
|
NM_001040142.2(SCN2A):c.5574A>G (p.Leu1858=)
|
rs767592553
|
0.00008
|
|
NM_001099922.3(ALG13):c.621A>T (p.Gly207=)
|
rs371428241
|
0.00008
|
|
NM_001127222.2(CACNA1A):c.1368C>T (p.Ser456=)
|
rs377458008
|
0.00008
|
|
NM_001127222.2(CACNA1A):c.1668+20A>G
|
rs543880615
|
0.00008
|
|
NM_001127222.2(CACNA1A):c.2010C>T (p.Asn670=)
|
rs779250946
|
0.00008
|
|
NM_001127222.2(CACNA1A):c.3368G>A (p.Arg1123Gln)
|
rs769497214
|
0.00008
|
|
NM_001127222.2(CACNA1A):c.3607G>A (p.Glu1203Lys)
|
rs375415852
|
0.00008
|
|
NM_001127222.2(CACNA1A):c.3634G>T (p.Asp1212Tyr)
|
rs201269793
|
0.00008
|
|
NM_001127222.2(CACNA1A):c.4591-5C>T
|
rs199631921
|
0.00008
|
|
NM_001127222.2(CACNA1A):c.4779T>C (p.Tyr1593=)
|
rs774619836
|
0.00008
|
|
NM_001127222.2(CACNA1A):c.5401-10G>A
|
rs370129945
|
0.00008
|
|
NM_001127222.2(CACNA1A):c.979-10C>A
|
rs374647321
|
0.00008
|
|
NM_001130438.3(SPTAN1):c.237+10A>G
|
rs746224717
|
0.00008
|
|
NM_001130438.3(SPTAN1):c.2760G>A (p.Lys920=)
|
rs773435271
|
0.00008
|
|
NM_001130438.3(SPTAN1):c.3803T>C (p.Val1268Ala)
|
rs146153626
|
0.00008
|
|
NM_001130438.3(SPTAN1):c.5949C>T (p.Phe1983=)
|
rs762358113
|
0.00008
|
|
NM_001130438.3(SPTAN1):c.6763C>T (p.Arg2255Cys)
|
rs372779649
|
0.00008
|
|
NM_001165963.4(SCN1A):c.2649C>T (p.Ile883=)
|
rs543436497
|
0.00008
|
|
NM_001165963.4(SCN1A):c.2946+19T>C
|
rs180873219
|
0.00008
|
|
NM_001165963.4(SCN1A):c.3706-20G>A
|
rs187973818
|
0.00008
|
|
NM_001165963.4(SCN1A):c.3714A>C (p.Glu1238Asp)
|
rs121917973
|
0.00008
|
|
NM_001165963.4(SCN1A):c.4002+2213C>T
|
rs930950827
|
0.00008
|
|
NM_001165963.4(SCN1A):c.4002+2540T>C
|
rs960944425
|
0.00008
|
|
NM_001165963.4(SCN1A):c.4557G>A (p.Pro1519=)
|
rs368785509
|
0.00008
|
|
NM_001165963.4(SCN1A):c.4887C>T (p.Phe1629=)
|
rs587780445
|
0.00008
|
|
NM_001184880.2(PCDH19):c.1059T>C (p.Ser353=)
|
rs1178813036
|
0.00008
|
|
NM_001184880.2(PCDH19):c.1602G>A (p.Leu534=)
|
rs370939779
|
0.00008
|
|
NM_001191061.2(SLC25A22):c.651G>A (p.Pro217=)
|
rs768604742
|
0.00008
|
|
NM_001191061.2(SLC25A22):c.75C>T (p.Cys25=)
|
rs764930724
|
0.00008
|
|
NM_001191061.2(SLC25A22):c.819-15G>A
|
rs546478081
|
0.00008
|
|
NM_001199107.2(TBC1D24):c.1143-5G>A
|
rs754105574
|
0.00008
|
|
NM_001199107.2(TBC1D24):c.1425C>T (p.Pro475=)
|
rs370869383
|
0.00008
|
|
NM_001271.4(CHD2):c.1038C>T (p.Asp346=)
|
rs148706063
|
0.00008
|
|
NM_001271.4(CHD2):c.4212A>G (p.Gln1404=)
|
rs202074164
|
0.00008
|
|
NM_001323289.2(CDKL5):c.513C>T (p.Tyr171=)
|
rs267608490
|
0.00008
|
|
NM_001330260.2(SCN8A):c.207C>T (p.Tyr69=)
|
rs532501146
|
0.00008
|
|
NM_001330260.2(SCN8A):c.3423A>G (p.Pro1141=)
|
rs376102810
|
0.00008
|
|
NM_001330723.2(SNX27):c.1365C>T (p.Ala455=)
|
rs555284794
|
0.00008
|
|
NM_001330723.2(SNX27):c.1519-8T>C
|
rs375601770
|
0.00008
|
|
NM_001330723.2(SNX27):c.672A>G (p.Pro224=)
|
rs777882451
|
0.00008
|
|
NM_001367561.1(DOCK7):c.3327G>A (p.Pro1109=)
|
rs750861708
|
0.00008
|
|
NM_001367561.1(DOCK7):c.4120-18C>T
|
rs778146567
|
0.00008
|
|
NM_001958.5(EEF1A2):c.183C>T (p.Asp61=)
|
rs147929770
|
0.00008
|
|
NM_004408.4(DNM1):c.117C>T (p.Gly39=)
|
rs142432944
|
0.00008
|
|
NM_004974.4(KCNA2):c.1023T>C (p.Leu341=)
|
rs139525148
|
0.00008
|
|
NM_015192.4(PLCB1):c.100-17T>C
|
rs370810694
|
0.00008
|
|
NM_015509.4(NECAP1):c.114A>G (p.Leu38=)
|
rs141295769
|
0.00008
|
|
NM_020708.5(SLC12A5):c.2182-11C>A
|
rs369990409
|
0.00008
|
|
NM_020822.3(KCNT1):c.1323C>T (p.Asp441=)
|
rs368477306
|
0.00008
|
|
NM_020822.3(KCNT1):c.1542C>T (p.Tyr514=)
|
rs371913299
|
0.00008
|
|
NM_020822.3(KCNT1):c.2502C>T (p.Ile834=)
|
rs139958448
|
0.00008
|
|
NM_020822.3(KCNT1):c.2730-15G>A
|
rs539244041
|
0.00008
|
|
NM_020822.3(KCNT1):c.3063G>A (p.Thr1021=)
|
rs760974671
|
0.00008
|
|
NM_020822.3(KCNT1):c.3138C>T (p.His1046=)
|
rs138533589
|
0.00008
|
|
NM_020822.3(KCNT1):c.3255C>T (p.Thr1085=)
|
rs371632359
|
0.00008
|
|
NM_020822.3(KCNT1):c.3387C>T (p.Ala1129=)
|
rs372410150
|
0.00008
|
|
NM_020822.3(KCNT1):c.434+10G>A
|
rs187872786
|
0.00008
|
|
NM_021072.4(HCN1):c.2295T>C (p.Asn765=)
|
rs933648147
|
0.00008
|
|
NM_139058.3(ARX):c.1269C>T (p.His423=)
|
rs794727656
|
0.00008
|
|
NM_139058.3(ARX):c.303A>G (p.Ala101=)
|
rs797045295
|
0.00008
|
|
NM_139318.5(KCNH5):c.1257C>T (p.Tyr419=)
|
rs372290413
|
0.00008
|
|
NM_139318.5(KCNH5):c.2651C>T (p.Pro884Leu)
|
rs144667189
|
0.00008
|
|
NM_152743.4(BRAT1):c.1734C>T (p.His578=)
|
rs764709405
|
0.00008
|
|
NM_152743.4(BRAT1):c.780G>T (p.Val260=)
|
rs1024163754
|
0.00008
|
|
NM_172107.4(KCNQ2):c.1302-10G>A
|
rs756712314
|
0.00008
|
|
NM_172107.4(KCNQ2):c.1635C>A (p.Val545=)
|
rs375045009
|
0.00008
|
|
NM_172107.4(KCNQ2):c.2613G>T (p.Arg871Ser)
|
rs587780369
|
0.00008
|
|
NM_173354.5(SIK1):c.1120-16C>T
|
rs149663047
|
0.00008
|
|
NM_173354.5(SIK1):c.1259C>T (p.Pro420Leu)
|
rs181611369
|
0.00008
|
|
NM_173354.5(SIK1):c.808G>A (p.Ala270Thr)
|
rs571627997
|
0.00008
|
|
NM_173354.5(SIK1):c.91C>G (p.Arg31Gly)
|
rs147781218
|
0.00008
|
|
NM_173728.4(ARHGEF15):c.935-12T>G
|
rs752719110
|
0.00008
|
|
NM_177550.5(SLC13A5):c.1365C>T (p.Leu455=)
|
rs572994797
|
0.00008
|
|
NM_203446.3(SYNJ1):c.2304+20A>G
|
rs142813430
|
0.00008
|
|
NM_203446.3(SYNJ1):c.2795+10T>C
|
rs756959605
|
0.00008
|
|
NM_203446.3(SYNJ1):c.462T>A (p.Thr154=)
|
rs369978981
|
0.00008
|
|
NM_000330.4(RS1):c.185-3208C>T
|
rs140944590
|
0.00007
|
|
NM_000834.5(GRIN2B):c.1023T>C (p.Asn341=)
|
rs201228929
|
0.00007
|
|
NM_000834.5(GRIN2B):c.1035G>A (p.Glu345=)
|
rs146812769
|
0.00007
|
|
NM_000834.5(GRIN2B):c.1221C>T (p.Ser407=)
|
rs145080218
|
0.00007
|
|
NM_000834.5(GRIN2B):c.1275G>A (p.Leu425=)
|
rs950679024
|
0.00007
|
|
NM_000834.5(GRIN2B):c.2172-4A>G
|
rs367915298
|
0.00007
|
|
NM_000834.5(GRIN2B):c.957C>T (p.Ser319=)
|
rs201565323
|
0.00007
|
|
NM_000834.5(GRIN2B):c.99C>A (p.Pro33=)
|
rs77738206
|
0.00007
|
|
NM_001032221.6(STXBP1):c.1257G>A (p.Thr419=)
|
rs377751165
|
0.00007
|
|
NM_001032221.6(STXBP1):c.1385C>T (p.Pro462Leu)
|
rs752394761
|
0.00007
|
|
NM_001032221.6(STXBP1):c.1404C>A (p.Ile468=)
|
rs777499631
|
0.00007
|
|
NM_001032221.6(STXBP1):c.1548-15C>A
|
rs772320382
|
0.00007
|
|
NM_001032221.6(STXBP1):c.663+20C>T
|
rs373714441
|
0.00007
|
|
NM_001040142.2(SCN2A):c.3521-12C>T
|
rs370419172
|
0.00007
|
|
NM_001127222.2(CACNA1A):c.2172+9G>A
|
rs368353124
|
0.00007
|
|
NM_001127222.2(CACNA1A):c.2783C>T (p.Pro928Leu)
|
rs754998423
|
0.00007
|
|
NM_001127222.2(CACNA1A):c.2788C>T (p.Arg930Trp)
|
rs367882437
|
0.00007
|
|
NM_001127222.2(CACNA1A):c.4338G>A (p.Leu1446=)
|
rs371952826
|
0.00007
|
|
NM_001127222.2(CACNA1A):c.5394G>A (p.Ser1798=)
|
rs201681631
|
0.00007
|
|
NM_001127222.2(CACNA1A):c.5868C>T (p.Tyr1956=)
|
rs371972266
|
0.00007
|
|
NM_001127222.2(CACNA1A):c.6527-16C>T
|
rs752985059
|
0.00007
|
|
NM_001130438.3(SPTAN1):c.6885C>T (p.Leu2295=)
|
rs76767787
|
0.00007
|
|
NM_001130438.3(SPTAN1):c.7330G>A (p.Asp2444Asn)
|
rs147149360
|
0.00007
|
|
NM_001130438.3(SPTAN1):c.7391C>T (p.Ala2464Val)
|
rs139070536
|
0.00007
|
|
NM_001130438.3(SPTAN1):c.7419G>A (p.Ser2473=)
|
rs375649697
|
0.00007
|
|
NM_001165963.4(SCN1A):c.4317T>C (p.Tyr1439=)
|
rs758014915
|
0.00007
|
|
NM_001184880.2(PCDH19):c.1218G>C (p.Leu406=)
|
rs368465446
|
0.00007
|
|
NM_001184880.2(PCDH19):c.573G>C (p.Val191=)
|
rs766347338
|
0.00007
|
|
NM_001184880.2(PCDH19):c.792T>C (p.Asp264=)
|
rs373181586
|
0.00007
|
|
NM_001191061.2(SLC25A22):c.123C>T (p.Asn41=)
|
rs544915540
|
0.00007
|
|
NM_001191061.2(SLC25A22):c.146+12G>A
|
rs765814353
|
0.00007
|
|
NM_001191061.2(SLC25A22):c.150C>T (p.Ser50=)
|
rs201574228
|
0.00007
|
|
NM_001191061.2(SLC25A22):c.294-20C>T
|
rs755464940
|
0.00007
|
|
NM_001199107.2(TBC1D24):c.1207-6C>G
|
rs749626631
|
0.00007
|
|
NM_001199107.2(TBC1D24):c.178C>T (p.Arg60Trp)
|
rs373914077
|
0.00007
|
|
NM_001199107.2(TBC1D24):c.546G>A (p.Thr182=)
|
rs182825122
|
0.00007
|
|
NM_001271.4(CHD2):c.1174A>G (p.Thr392Ala)
|
rs754295120
|
0.00007
|
|
NM_001271.4(CHD2):c.2506-11T>G
|
rs376323635
|
0.00007
|
|
NM_001271.4(CHD2):c.2578-18A>G
|
rs375711428
|
0.00007
|
|
NM_001271.4(CHD2):c.2703G>A (p.Ala901=)
|
rs776453723
|
0.00007
|
|
NM_001271.4(CHD2):c.2728-12C>G
|
rs544624674
|
0.00007
|
|
NM_001271.4(CHD2):c.4977C>T (p.Ser1659=)
|
rs769365893
|
0.00007
|
|
NM_001271.4(CHD2):c.984G>A (p.Gln328=)
|
rs944181807
|
0.00007
|
|
NM_001323289.2(CDKL5):c.1233C>T (p.Ala411=)
|
rs907733307
|
0.00007
|
|
NM_001330260.2(SCN8A):c.2970C>T (p.Asp990=)
|
rs74798508
|
0.00007
|
|
NM_001330260.2(SCN8A):c.3942+7T>C
|
rs757990460
|
0.00007
|
|
NM_001330723.2(SNX27):c.1150-4A>C
|
rs746469264
|
0.00007
|
|
NM_001353921.2(ARHGEF9):c.24G>A (p.Ser8=)
|
rs1413001108
|
0.00007
|
|
NM_001353921.2(ARHGEF9):c.402+7A>T
|
rs373304318
|
0.00007
|
|
NM_001367561.1(DOCK7):c.1283-14T>A
|
rs200258912
|
0.00007
|
|
NM_001367561.1(DOCK7):c.1545C>T (p.Pro515=)
|
rs374462701
|
0.00007
|
|
NM_001367561.1(DOCK7):c.1872-7T>A
|
rs577170841
|
0.00007
|
|
NM_001367561.1(DOCK7):c.1944T>C (p.Phe648=)
|
rs199869677
|
0.00007
|
|
NM_001367561.1(DOCK7):c.2397A>G (p.Leu799=)
|
rs150172115
|
0.00007
|
|
NM_001958.5(EEF1A2):c.171C>T (p.Ala57=)
|
rs572244463
|
0.00007
|
|
NM_001958.5(EEF1A2):c.369C>T (p.Phe123=)
|
rs375710105
|
0.00007
|
|
NM_004408.4(DNM1):c.1422+18C>T
|
rs747813685
|
0.00007
|
|
NM_004408.4(DNM1):c.1772C>T (p.Thr591Met)
|
rs772239774
|
0.00007
|
|
NM_004974.4(KCNA2):c.30C>T (p.Asp10=)
|
rs757960714
|
0.00007
|
|
NM_004975.4(KCNB1):c.2091C>T (p.Asn697=)
|
rs746382408
|
0.00007
|
|
NM_005249.5(FOXG1):c.1158C>G (p.Ala386=)
|
rs143223844
|
0.00007
|
|
NM_005249.5(FOXG1):c.411G>C (p.Leu137=)
|
rs780164294
|
0.00007
|
|
NM_006030.4(CACNA2D2):c.1627-14A>G
|
rs781022613
|
0.00007
|
|
NM_006030.4(CACNA2D2):c.270C>T (p.Gly90=)
|
rs754832829
|
0.00007
|
|
NM_006030.4(CACNA2D2):c.909C>T (p.Ser303=)
|
rs143680645
|
0.00007
|
|
NM_006279.5(ST3GAL3):c.1038+7G>A
|
rs753703868
|
0.00007
|
|
NM_006279.5(ST3GAL3):c.936C>T (p.His312=)
|
rs372260228
|
0.00007
|
|
NM_007254.4(PNKP):c.1008C>T (p.Phe336=)
|
rs1474446608
|
0.00007
|
|
NM_007254.4(PNKP):c.1298+19C>T
|
rs541129252
|
0.00007
|
|
NM_007254.4(PNKP):c.1515A>G (p.Leu505=)
|
rs369748873
|
0.00007
|
|
NM_015192.4(PLCB1):c.1275G>A (p.Ala425=)
|
rs143366963
|
0.00007
|
|
NM_015192.4(PLCB1):c.178-16C>T
|
rs758638401
|
0.00007
|
|
NM_015192.4(PLCB1):c.2209-19T>C
|
rs765382131
|
0.00007
|
|
NM_015192.4(PLCB1):c.3189-14C>T
|
rs777913912
|
0.00007
|
|
NM_016373.4(WWOX):c.1125C>T (p.Tyr375=)
|
rs372703745
|
0.00007
|
|
NM_016373.4(WWOX):c.951G>A (p.Thr317=)
|
rs759801417
|
0.00007
|
|
NM_020708.5(SLC12A5):c.117G>A (p.Glu39=)
|
rs751664445
|
0.00007
|
|
NM_020708.5(SLC12A5):c.318G>A (p.Pro106=)
|
rs200144342
|
0.00007
|
|
NM_020708.5(SLC12A5):c.36T>C (p.Asp12=)
|
rs998267168
|
0.00007
|
|
NM_020708.5(SLC12A5):c.630C>T (p.Ala210=)
|
rs913680770
|
0.00007
|
|
NM_020822.3(KCNT1):c.1036-12T>G
|
rs113079797
|
0.00007
|
|
NM_020822.3(KCNT1):c.1077_1078del (p.Gly361fs)
|
rs796214553
|
0.00007
|
|
NM_020822.3(KCNT1):c.1443C>T (p.Phe481=)
|
rs576446992
|
0.00007
|
|
NM_020822.3(KCNT1):c.1694G>A (p.Arg565His)
|
rs769855266
|
0.00007
|
|
NM_020822.3(KCNT1):c.1769+8C>T
|
rs371287985
|
0.00007
|
|
NM_020822.3(KCNT1):c.1770-15G>A
|
rs746828967
|
0.00007
|
|
NM_020822.3(KCNT1):c.2856T>C (p.Asn952=)
|
rs147671362
|
0.00007
|
|
NM_020822.3(KCNT1):c.2944-17C>T
|
rs1255015458
|
0.00007
|
|
NM_020822.3(KCNT1):c.3689G>A (p.Arg1230His)
|
rs776538404
|
0.00007
|
|
NM_020822.3(KCNT1):c.435-12G>C
|
rs367739886
|
0.00007
|
|
NM_020822.3(KCNT1):c.480C>T (p.Ser160=)
|
rs374042509
|
0.00007
|
|
NM_020822.3(KCNT1):c.625C>T (p.Arg209Cys)
|
rs568539413
|
0.00007
|
|
NM_020822.3(KCNT1):c.851C>T (p.Thr284Met)
|
rs376583438
|
0.00007
|
|
NM_020822.3(KCNT1):c.854+9C>T
|
rs370686981
|
0.00007
|
|
NM_020988.3(GNAO1):c.75G>A (p.Glu25=)
|
rs182812404
|
0.00007
|
|
NM_021072.4(HCN1):c.1170C>T (p.Val390=)
|
rs369683016
|
0.00007
|
|
NM_021072.4(HCN1):c.939T>C (p.Gly313=)
|
rs746190871
|
0.00007
|
|
NM_031844.3(HNRNPU):c.1182A>G (p.Glu394=)
|
rs201766865
|
0.00007
|
|
NM_031844.3(HNRNPU):c.1274G>C (p.Gly425Ala)
|
rs199596170
|
0.00007
|
|
NM_031844.3(HNRNPU):c.531C>A (p.Arg177=)
|
rs376987913
|
0.00007
|
|
NM_139318.5(KCNH5):c.1252T>C (p.Leu418=)
|
rs746183987
|
0.00007
|
|
NM_139318.5(KCNH5):c.2532C>T (p.Pro844=)
|
rs770692227
|
0.00007
|
|
NM_139318.5(KCNH5):c.2691C>T (p.Pro897=)
|
rs140809753
|
0.00007
|
|
NM_139318.5(KCNH5):c.550-11C>G
|
rs368371920
|
0.00007
|
|
NM_152743.4(BRAT1):c.1134+8C>T
|
rs369079026
|
0.00007
|
|
NM_152743.4(BRAT1):c.1395+16T>C
|
rs376559524
|
0.00007
|
|
NM_152743.4(BRAT1):c.1484C>T (p.Pro495Leu)
|
rs577945739
|
0.00007
|
|
NM_172107.4(KCNQ2):c.1239G>A (p.Pro413=)
|
rs372146620
|
0.00007
|
|
NM_173354.5(SIK1):c.1386G>A (p.Glu462=)
|
rs772722600
|
0.00007
|
|
NM_173354.5(SIK1):c.1641C>T (p.Ser547=)
|
rs767618062
|
0.00007
|
|
NM_173354.5(SIK1):c.2109G>A (p.Thr703=)
|
rs752076447
|
0.00007
|
|
NM_173728.4(ARHGEF15):c.2322A>G (p.Gly774=)
|
rs757985432
|
0.00007
|
|
NM_173728.4(ARHGEF15):c.387G>A (p.Thr129=)
|
rs149692144
|
0.00007
|
|
NM_173728.4(ARHGEF15):c.513G>A (p.Pro171=)
|
rs372888591
|
0.00007
|
|
NM_177550.5(SLC13A5):c.1074T>C (p.Thr358=)
|
rs369156060
|
0.00007
|
|
NM_177550.5(SLC13A5):c.1461G>A (p.Pro487=)
|
rs374067396
|
0.00007
|
|
NM_203446.3(SYNJ1):c.1906G>A (p.Val636Ile)
|
rs373820739
|
0.00007
|
|
NM_203446.3(SYNJ1):c.2439G>A (p.Arg813=)
|
rs143244716
|
0.00007
|
|
NM_203446.3(SYNJ1):c.3588+20G>A
|
rs1001527639
|
0.00007
|
|
NM_000330.4(RS1):c.184+3198C>T
|
rs987192406
|
0.00006
|
|
NM_000834.5(GRIN2B):c.1080G>A (p.Pro360=)
|
rs201952040
|
0.00006
|
|
NM_000834.5(GRIN2B):c.1126-10C>T
|
rs374302782
|
0.00006
|
|
NM_000834.5(GRIN2B):c.1501-14C>T
|
rs191974209
|
0.00006
|
|
NM_000834.5(GRIN2B):c.2001C>T (p.Ser667=)
|
rs200392452
|
0.00006
|
|
NM_000834.5(GRIN2B):c.2017A>C (p.Arg673=)
|
rs149279923
|
0.00006
|
|
NM_001032221.6(STXBP1):c.1302G>A (p.Pro434=)
|
rs142021261
|
0.00006
|
|
NM_001032221.6(STXBP1):c.1320C>T (p.Ile440=)
|
rs370249358
|
0.00006
|
|
NM_001032221.6(STXBP1):c.1335C>T (p.His445=)
|
rs372348815
|
0.00006
|
|
NM_001032221.6(STXBP1):c.201G>A (p.Pro67=)
|
rs377398330
|
0.00006
|
|
NM_001040142.2(SCN2A):c.1976G>A (p.Gly659Asp)
|
rs368887417
|
0.00006
|
|
NM_001040142.2(SCN2A):c.3015T>C (p.Ile1005=)
|
rs758652224
|
0.00006
|
|
NM_001040142.2(SCN2A):c.3330A>C (p.Gly1110=)
|
rs138143967
|
0.00006
|
|
NM_001040142.2(SCN2A):c.3456C>T (p.Ala1152=)
|
rs144325450
|
0.00006
|
|
NM_001040142.2(SCN2A):c.3485A>T (p.Glu1162Val)
|
rs201124054
|
0.00006
|
|
NM_001040142.2(SCN2A):c.4221C>T (p.Asn1407=)
|
rs747792907
|
0.00006
|
|
NM_001040142.2(SCN2A):c.5817A>G (p.Glu1939=)
|
rs780514937
|
0.00006
|
|
NM_001099922.3(ALG13):c.620G>A (p.Gly207Glu)
|
rs775381422
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.1353C>G (p.Pro451=)
|
rs569115027
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.1593C>T (p.Ser531=)
|
rs372090886
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.2501A>C (p.Asn834Thr)
|
rs201666606
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.2676C>T (p.Ser892=)
|
rs780515850
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.2812G>C (p.Gly938Arg)
|
rs771423362
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.2853G>A (p.Ala951=)
|
rs761522418
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.2940C>G (p.Arg980=)
|
rs1188340576
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.297C>T (p.Pro99=)
|
rs370211834
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.3053G>C (p.Arg1018Pro)
|
rs762288499
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.3489C>T (p.Pro1163=)
|
rs771567638
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.3649A>G (p.Met1217Val)
|
rs372017604
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.4388+12G>A
|
rs924927963
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.4710G>A (p.Thr1570=)
|
rs761547761
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.546G>A (p.Leu182=)
|
rs368347143
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.549G>T (p.Ala183=)
|
rs16004
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.5529-1245T>C
|
rs368791169
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.5731+14A>G
|
rs762304728
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.5731+14_5731+15del
|
rs775317628
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.5740G>A (p.Asp1914Asn)
|
rs371957992
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.5940+12G>A
|
rs780841537
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.6001C>T (p.Pro2001Ser)
|
rs751947412
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.6067G>A (p.Gly2023Ser)
|
rs574805525
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.6077A>G (p.Glu2026Gly)
|
rs771768635
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.6203G>A (p.Arg2068Gln)
|
rs769040794
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.6266G>A (p.Arg2089Gln)
|
rs1033214914
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys)
|
rs121908235
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.831C>T (p.Pro277=)
|
rs568635317
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.903C>T (p.Phe301=)
|
rs17846910
|
0.00006
|
|
NM_001130438.3(SPTAN1):c.1512G>A (p.Ala504=)
|
rs141424626
|
0.00006
|
|
NM_001130438.3(SPTAN1):c.2205T>C (p.Asp735=)
|
rs781437907
|
0.00006
|
|
NM_001130438.3(SPTAN1):c.238-9C>T
|
rs367687143
|
0.00006
|
|
NM_001130438.3(SPTAN1):c.3007-16C>A
|
rs377381640
|
0.00006
|
|
NM_001130438.3(SPTAN1):c.4437C>T (p.Ser1479=)
|
rs373857333
|
0.00006
|
|
NM_001130438.3(SPTAN1):c.4485C>T (p.Asn1495=)
|
rs767175912
|
0.00006
|
|
NM_001130438.3(SPTAN1):c.4492-8T>C
|
rs778949349
|
0.00006
|
|
NM_001130438.3(SPTAN1):c.5648A>G (p.Asn1883Ser)
|
rs200248814
|
0.00006
|
|
NM_001130438.3(SPTAN1):c.5817A>G (p.Gln1939=)
|
rs578124150
|
0.00006
|
|
NM_001130438.3(SPTAN1):c.6195C>T (p.Ser2065=)
|
rs760243298
|
0.00006
|
|
NM_001165963.4(SCN1A):c.1170+16C>T
|
rs377618565
|
0.00006
|
|
NM_001165963.4(SCN1A):c.1582A>T (p.Ser528Cys)
|
rs372372558
|
0.00006
|
|
NM_001165963.4(SCN1A):c.1803C>T (p.Asn601=)
|
rs139403702
|
0.00006
|
|
NM_001165963.4(SCN1A):c.2176+11A>C
|
rs201604887
|
0.00006
|
|
NM_001165963.4(SCN1A):c.333A>G (p.Leu111=)
|
rs201592683
|
0.00006
|
|
NM_001165963.4(SCN1A):c.3481G>A (p.Ala1161Thr)
|
rs201079458
|
0.00006
|
|
NM_001165963.4(SCN1A):c.3732G>A (p.Gln1244=)
|
rs369688121
|
0.00006
|
|
NM_001165963.4(SCN1A):c.4002+2247A>C
|
rs920922978
|
0.00006
|
|
NM_001165963.4(SCN1A):c.4724G>A (p.Arg1575His)
|
rs368834365
|
0.00006
|
|
NM_001165963.4(SCN1A):c.4852+17G>A
|
rs562963222
|
0.00006
|
|
NM_001165963.4(SCN1A):c.695-18T>C
|
rs199610378
|
0.00006
|
|
NM_001165963.4(SCN1A):c.80G>C (p.Arg27Thr)
|
rs121917906
|
0.00006
|
|
NM_001165963.4(SCN1A):c.964+11T>C
|
rs201531417
|
0.00006
|
|
NM_001184880.2(PCDH19):c.2873G>A (p.Arg958Gln)
|
rs748581653
|
0.00006
|
|
NM_001184880.2(PCDH19):c.2973C>T (p.Ile991=)
|
rs769375997
|
0.00006
|
|
NM_001184880.2(PCDH19):c.3195C>A (p.Val1065=)
|
rs781312992
|
0.00006
|
|
NM_001184880.2(PCDH19):c.540G>A (p.Thr180=)
|
rs368094294
|
0.00006
|
|
NM_001184880.2(PCDH19):c.591C>T (p.Asp197=)
|
rs374554305
|
0.00006
|
|
NM_001191061.2(SLC25A22):c.146+11C>T
|
rs372685549
|
0.00006
|
|
NM_001191061.2(SLC25A22):c.207T>G (p.Ala69=)
|
rs527440140
|
0.00006
|
|
NM_001191061.2(SLC25A22):c.693C>T (p.Ala231=)
|
rs530935116
|
0.00006
|
|
NM_001191061.2(SLC25A22):c.777C>T (p.Gly259=)
|
rs373332611
|
0.00006
|
|
NM_001199107.2(TBC1D24):c.243C>T (p.Ile81=)
|
rs745405784
|
0.00006
|
|
NM_001271.4(CHD2):c.1052+11C>T
|
rs558895083
|
0.00006
|
|
NM_001271.4(CHD2):c.1233C>T (p.Pro411=)
|
rs202188833
|
0.00006
|
|
NM_001271.4(CHD2):c.1377+13T>C
|
rs375615448
|
0.00006
|
|
NM_001271.4(CHD2):c.180T>G (p.Ser60=)
|
rs747415863
|
0.00006
|
|
NM_001271.4(CHD2):c.2724G>A (p.Lys908=)
|
rs775276311
|
0.00006
|
|
NM_001271.4(CHD2):c.3237+14A>G
|
rs763922777
|
0.00006
|
|
NM_001271.4(CHD2):c.4534C>T (p.Arg1512Trp)
|
rs755898320
|
0.00006
|
|
NM_001271.4(CHD2):c.4542C>T (p.Ala1514=)
|
rs147115056
|
0.00006
|
|
NM_001271.4(CHD2):c.4907-15T>A
|
rs372145426
|
0.00006
|
|
NM_001271.4(CHD2):c.4968A>G (p.Pro1656=)
|
rs909107415
|
0.00006
|
|
NM_001271.4(CHD2):c.4978G>A (p.Asp1660Asn)
|
rs61752830
|
0.00006
|
|
NM_001271.4(CHD2):c.4986C>T (p.His1662=)
|
rs139082993
|
0.00006
|
|
NM_001271.4(CHD2):c.826+14G>A
|
rs189583903
|
0.00006
|
|
NM_001323289.2(CDKL5):c.1064G>A (p.Arg355Gln)
|
rs189400843
|
0.00006
|
|
NM_001323289.2(CDKL5):c.1564T>G (p.Leu522Val)
|
rs781427744
|
0.00006
|
|
NM_001323289.2(CDKL5):c.603T>C (p.Leu201=)
|
rs763478005
|
0.00006
|
|
NM_001323289.2(CDKL5):c.761A>G (p.His254Arg)
|
rs1481627825
|
0.00006
|
|
NM_001330260.2(SCN8A):c.1149C>T (p.Ala383=)
|
rs201402959
|
0.00006
|
|
NM_001330260.2(SCN8A):c.1509C>A (p.Leu503=)
|
rs376749872
|
0.00006
|
|
NM_001330260.2(SCN8A):c.1536C>T (p.Pro512=)
|
rs770320050
|
0.00006
|
|
NM_001330260.2(SCN8A):c.3135C>T (p.Ile1045=)
|
rs550579591
|
0.00006
|
|
NM_001330260.2(SCN8A):c.3158T>G (p.Ile1053Ser)
|
rs587780453
|
0.00006
|
|
NM_001330260.2(SCN8A):c.3490+11A>T
|
rs770510526
|
0.00006
|
|
NM_001330260.2(SCN8A):c.360G>C (p.Leu120=)
|
rs368307928
|
0.00006
|
|
NM_001330260.2(SCN8A):c.3966C>T (p.Gly1322=)
|
rs775267842
|
0.00006
|
|
NM_001330260.2(SCN8A):c.5879G>A (p.Arg1960Gln)
|
rs369346315
|
0.00006
|
|
NM_001330260.2(SCN8A):c.615-143G>A
|
rs376385273
|
0.00006
|
|
NM_001330260.2(SCN8A):c.858A>T (p.Ile286=)
|
rs370911858
|
0.00006
|
|
NM_001330723.2(SNX27):c.812G>A (p.Gly271Asp)
|
rs748570559
|
0.00006
|
|
NM_001330723.2(SNX27):c.822C>T (p.Asp274=)
|
rs771189015
|
0.00006
|
|
NM_001353921.2(ARHGEF9):c.351G>A (p.Glu117=)
|
rs373866956
|
0.00006
|
|
NM_001353921.2(ARHGEF9):c.777G>A (p.Gln259=)
|
rs1057522740
|
0.00006
|
|
NM_001367561.1(DOCK7):c.1682+16T>C
|
rs567488973
|
0.00006
|
|
NM_001367561.1(DOCK7):c.4077A>G (p.Leu1359=)
|
rs140660484
|
0.00006
|
|
NM_001367561.1(DOCK7):c.5463T>A (p.Leu1821=)
|
rs201081054
|
0.00006
|
|
NM_001367561.1(DOCK7):c.6381-10T>A
|
rs769604812
|
0.00006
|
|
NM_001958.5(EEF1A2):c.1029+13G>A
|
rs374272155
|
0.00006
|
|
NM_001958.5(EEF1A2):c.1265-13C>A
|
rs1163487010
|
0.00006
|
|
NM_001958.5(EEF1A2):c.145-16C>T
|
rs369022379
|
0.00006
|
|
NM_001958.5(EEF1A2):c.145-8C>T
|
rs554786640
|
0.00006
|
|
NM_001958.5(EEF1A2):c.219C>T (p.Ile73=)
|
rs371263699
|
0.00006
|
|
NM_001958.5(EEF1A2):c.345C>T (p.Ile115=)
|
rs138846735
|
0.00006
|
|
NM_001958.5(EEF1A2):c.999G>A (p.Pro333=)
|
rs760721599
|
0.00006
|
|
NM_004408.4(DNM1):c.1350G>T (p.Pro450=)
|
rs147897973
|
0.00006
|
|
NM_004408.4(DNM1):c.725T>C (p.Ile242Thr)
|
rs138357499
|
0.00006
|
|
NM_004408.4(DNM1):c.849+7G>A
|
rs779667787
|
0.00006
|
|
NM_004408.4(DNM1):c.992+13C>A
|
rs762733307
|
0.00006
|
|
NM_004974.4(KCNA2):c.1146G>A (p.Pro382=)
|
rs370714935
|
0.00006
|
|
NM_004974.4(KCNA2):c.292T>C (p.Leu98=)
|
rs369845519
|
0.00006
|
|
NM_004974.4(KCNA2):c.35C>T (p.Ala12Val)
|
rs372822052
|
0.00006
|
|
NM_004975.4(KCNB1):c.1905T>C (p.Gly635=)
|
rs117166054
|
0.00006
|
|
NM_005249.5(FOXG1):c.1399C>T (p.Leu467=)
|
rs371279404
|
0.00006
|
|
NM_005249.5(FOXG1):c.432G>C (p.Glu144Asp)
|
rs547825816
|
0.00006
|
|
NM_005249.5(FOXG1):c.546G>A (p.Pro182=)
|
rs753143152
|
0.00006
|
|
NM_006030.4(CACNA2D2):c.1985-14C>T
|
rs769316124
|
0.00006
|
|
NM_006030.4(CACNA2D2):c.2638-7C>G
|
rs780942169
|
0.00006
|
|
NM_006030.4(CACNA2D2):c.3219G>C (p.Pro1073=)
|
rs763919174
|
0.00006
|
|
NM_006030.4(CACNA2D2):c.3333G>A (p.Pro1111=)
|
rs772683542
|
0.00006
|
|
NM_006030.4(CACNA2D2):c.39C>T (p.Pro13=)
|
rs914695299
|
0.00006
|
|
NM_006030.4(CACNA2D2):c.528G>A (p.Glu176=)
|
rs372100606
|
0.00006
|
|
NM_006030.4(CACNA2D2):c.822C>T (p.Tyr274=)
|
rs768567846
|
0.00006
|
|
NM_007254.4(PNKP):c.1062C>T (p.Leu354=)
|
rs142830558
|
0.00006
|
|
NM_007254.4(PNKP):c.1098G>A (p.Glu366=)
|
rs755340060
|
0.00006
|
|
NM_007254.4(PNKP):c.456G>A (p.Lys152=)
|
rs752339576
|
0.00006
|
|
NM_007254.4(PNKP):c.817-20C>G
|
rs201778535
|
0.00006
|
|
NM_014334.4(FRRS1L):c.678T>C (p.Tyr226=)
|
rs376047829
|
0.00006
|
|
NM_015192.4(PLCB1):c.1167+14A>G
|
rs563791103
|
0.00006
|
|
NM_015192.4(PLCB1):c.1188G>A (p.Ala396=)
|
rs202109404
|
0.00006
|
|
NM_015192.4(PLCB1):c.1888+9A>C
|
rs371050904
|
0.00006
|
|
NM_015192.4(PLCB1):c.2028C>T (p.Asn676=)
|
rs142083540
|
0.00006
|
|
NM_015192.4(PLCB1):c.2112G>A (p.Leu704=)
|
rs139095432
|
0.00006
|
|
NM_015192.4(PLCB1):c.2982C>T (p.Leu994=)
|
rs770134240
|
0.00006
|
|
NM_015192.4(PLCB1):c.695+10C>G
|
rs763454386
|
0.00006
|
|
NM_015192.4(PLCB1):c.912C>T (p.Asn304=)
|
rs374061975
|
0.00006
|
|
NM_015192.4(PLCB1):c.975T>C (p.Tyr325=)
|
rs372723242
|
0.00006
|
|
NM_015509.4(NECAP1):c.489C>T (p.Ile163=)
|
rs773465096
|
0.00006
|
|
NM_016373.4(WWOX):c.840C>G (p.Leu280=)
|
rs772356641
|
0.00006
|
|
NM_020708.5(SLC12A5):c.1317C>T (p.Ile439=)
|
rs10460627
|
0.00006
|
|
NM_020708.5(SLC12A5):c.1788-9C>T
|
rs773585521
|
0.00006
|
|
NM_020708.5(SLC12A5):c.1936C>A (p.Arg646=)
|
rs771263913
|
0.00006
|
|
NM_020708.5(SLC12A5):c.2012+14G>T
|
rs1180929890
|
0.00006
|
|
NM_020708.5(SLC12A5):c.2649C>T (p.Arg883=)
|
rs746516978
|
0.00006
|
|
NM_020708.5(SLC12A5):c.279+12G>A
|
rs373707676
|
0.00006
|
|
NM_020708.5(SLC12A5):c.2911-19C>T
|
rs202150692
|
0.00006
|
|
NM_020708.5(SLC12A5):c.2961G>A (p.Pro987=)
|
rs550491448
|
0.00006
|
|
NM_020708.5(SLC12A5):c.3126-15T>C
|
rs199825251
|
0.00006
|
|
NM_020708.5(SLC12A5):c.939G>C (p.Val313=)
|
rs149300952
|
0.00006
|
|
NM_020822.3(KCNT1):c.1173C>T (p.Asn391=)
|
rs374015551
|
0.00006
|
|
NM_020822.3(KCNT1):c.1327A>T (p.Met443Leu)
|
rs201908490
|
0.00006
|
|
NM_020822.3(KCNT1):c.146C>G (p.Thr49Ser)
|
rs200137341
|
0.00006
|
|
NM_020822.3(KCNT1):c.1962C>T (p.His654=)
|
rs141759469
|
0.00006
|
|
NM_020822.3(KCNT1):c.2152G>A (p.Asp718Asn)
|
rs777958749
|
0.00006
|
|
NM_020822.3(KCNT1):c.2670C>T (p.Ser890=)
|
rs765403435
|
0.00006
|
|
NM_020822.3(KCNT1):c.273C>T (p.Tyr91=)
|
rs770619151
|
0.00006
|
|
NM_020822.3(KCNT1):c.279C>T (p.Asn93=)
|
rs183022730
|
0.00006
|
|
NM_020822.3(KCNT1):c.3015G>T (p.Gly1005=)
|
rs368875875
|
0.00006
|
|
NM_020822.3(KCNT1):c.3153G>A (p.Ser1051=)
|
rs141802876
|
0.00006
|
|
NM_020822.3(KCNT1):c.3281C>T (p.Thr1094Met)
|
rs373041291
|
0.00006
|
|
NM_020822.3(KCNT1):c.32G>A (p.Gly11Glu)
|
rs1003586835
|
0.00006
|
|
NM_020822.3(KCNT1):c.335-4G>A
|
rs372339395
|
0.00006
|
|
NM_020822.3(KCNT1):c.3501C>T (p.Tyr1167=)
|
rs773575309
|
0.00006
|
|
NM_020822.3(KCNT1):c.3575C>T (p.Pro1192Leu)
|
rs147654995
|
0.00006
|
|
NM_020822.3(KCNT1):c.3669G>C (p.Ser1223=)
|
rs556454353
|
0.00006
|
|
NM_020822.3(KCNT1):c.533C>T (p.Ala178Val)
|
rs141961737
|
0.00006
|
|
NM_020822.3(KCNT1):c.62G>T (p.Gly21Val)
|
rs368870705
|
0.00006
|
|
NM_020822.3(KCNT1):c.744G>A (p.Ala248=)
|
rs145697148
|
0.00006
|
|
NM_020822.3(KCNT1):c.963G>A (p.Thr321=)
|
rs760300415
|
0.00006
|
|
NM_020988.3(GNAO1):c.118+8C>T
|
rs372787855
|
0.00006
|
|
NM_020988.3(GNAO1):c.186C>T (p.Ser62=)
|
rs200201305
|
0.00006
|
|
NM_020988.3(GNAO1):c.389G>A (p.Arg130Gln)
|
rs200127285
|
0.00006
|
|
NM_020988.3(GNAO1):c.606C>T (p.Val202=)
|
rs150641952
|
0.00006
|
|
NM_020988.3(GNAO1):c.723+11T>C
|
rs1436583224
|
0.00006
|
|
NM_021072.4(HCN1):c.2382C>T (p.Pro794=)
|
rs754764304
|
0.00006
|
|
NM_021072.4(HCN1):c.420T>C (p.Asp140=)
|
rs765004004
|
0.00006
|
|
NM_021072.4(HCN1):c.425+7G>T
|
rs759096969
|
0.00006
|
|
NM_031844.3(HNRNPU):c.1208A>C (p.Asn403Thr)
|
rs767181341
|
0.00006
|
|
NM_031844.3(HNRNPU):c.1268A>G (p.Lys423Arg)
|
rs760669739
|
0.00006
|
|
NM_031844.3(HNRNPU):c.2184C>T (p.Gly728=)
|
rs367547431
|
0.00006
|
|
NM_031844.3(HNRNPU):c.567C>T (p.Gly189=)
|
rs756832741
|
0.00006
|
|
NM_031844.3(HNRNPU):c.603C>T (p.Pro201=)
|
rs759371036
|
0.00006
|
|
NM_031844.3(HNRNPU):c.813T>G (p.Ser271=)
|
rs377602750
|
0.00006
|
|
NM_031844.3(HNRNPU):c.837A>T (p.Glu279Asp)
|
rs538951206
|
0.00006
|
|
NM_139058.3(ARX):c.237G>A (p.Leu79=)
|
rs1212876092
|
0.00006
|
|
NM_139058.3(ARX):c.602C>A (p.Pro201Gln)
|
rs1484238484
|
0.00006
|
|
NM_139058.3(ARX):c.603G>A (p.Pro201=)
|
rs1271214509
|
0.00006
|
|
NM_139318.5(KCNH5):c.171C>T (p.Asp57=)
|
rs368773009
|
0.00006
|
|
NM_139318.5(KCNH5):c.2103C>T (p.Pro701=)
|
rs112731796
|
0.00006
|
|
NM_139318.5(KCNH5):c.2364C>T (p.Gly788=)
|
rs753750196
|
0.00006
|
|
NM_139318.5(KCNH5):c.264C>T (p.Tyr88=)
|
rs373008977
|
0.00006
|
|
NM_139318.5(KCNH5):c.304+18T>C
|
rs373281826
|
0.00006
|
|
NM_139318.5(KCNH5):c.810C>T (p.Phe270=)
|
rs376391048
|
0.00006
|
|
NM_152743.4(BRAT1):c.1032G>A (p.Thr344=)
|
rs371220513
|
0.00006
|
|
NM_152743.4(BRAT1):c.1791G>A (p.Leu597=)
|
rs759517314
|
0.00006
|
|
NM_152743.4(BRAT1):c.2067C>T (p.Thr689=)
|
rs199957832
|
0.00006
|
|
NM_152743.4(BRAT1):c.216C>T (p.Val72=)
|
rs370459360
|
0.00006
|
|
NM_152743.4(BRAT1):c.585C>T (p.Ala195=)
|
rs893089185
|
0.00006
|
|
NM_152743.4(BRAT1):c.595A>C (p.Met199Leu)
|
rs549509251
|
0.00006
|
|
NM_152743.4(BRAT1):c.777C>T (p.Phe259=)
|
rs557291535
|
0.00006
|
|
NM_152743.4(BRAT1):c.803+16C>T
|
rs369940803
|
0.00006
|
|
NM_152743.4(BRAT1):c.804-18T>C
|
rs767867860
|
0.00006
|
|
NM_152743.4(BRAT1):c.910A>C (p.Lys304Gln)
|
rs777504857
|
0.00006
|
|
NM_152743.4(BRAT1):c.923+16C>T
|
rs374578110
|
0.00006
|
|
NM_152743.4(BRAT1):c.963C>G (p.Leu321=)
|
rs181738663
|
0.00006
|
|
NM_172107.4(KCNQ2):c.1764-6C>T
|
rs118192239
|
0.00006
|
|
NM_172107.4(KCNQ2):c.2007G>A (p.Pro669=)
|
rs542053755
|
0.00006
|
|
NM_172107.4(KCNQ2):c.2196C>T (p.Pro732=)
|
rs778953713
|
0.00006
|
|
NM_172107.4(KCNQ2):c.2409C>T (p.Ser803=)
|
rs374526673
|
0.00006
|
|
NM_172107.4(KCNQ2):c.515-14C>T
|
rs781295968
|
0.00006
|
|
NM_172107.4(KCNQ2):c.840C>T (p.Tyr280=)
|
rs201556105
|
0.00006
|
|
NM_173354.5(SIK1):c.1137T>C (p.Leu379=)
|
rs769697033
|
0.00006
|
|
NM_173354.5(SIK1):c.1245+16G>A
|
rs766185392
|
0.00006
|
|
NM_173354.5(SIK1):c.1356G>A (p.Pro452=)
|
rs762697666
|
0.00006
|
|
NM_173354.5(SIK1):c.1744+7C>G
|
rs1348743249
|
0.00006
|
|
NM_173354.5(SIK1):c.1920C>T (p.Gly640=)
|
rs372590689
|
0.00006
|
|
NM_173354.5(SIK1):c.1934G>A (p.Arg645Gln)
|
rs34614061
|
0.00006
|
|
NM_173354.5(SIK1):c.207G>A (p.Glu69=)
|
rs201818967
|
0.00006
|
|
NM_173354.5(SIK1):c.2121G>A (p.Pro707=)
|
rs374313941
|
0.00006
|
|
NM_173354.5(SIK1):c.27G>A (p.Ala9=)
|
rs757161757
|
0.00006
|
|
NM_173354.5(SIK1):c.306C>T (p.Val102=)
|
rs201331473
|
0.00006
|
|
NM_173354.5(SIK1):c.972+15A>G
|
rs769126173
|
0.00006
|
|
NM_173354.5(SIK1):c.999C>T (p.His333=)
|
rs758222972
|
0.00006
|
|
NM_173728.4(ARHGEF15):c.705C>T (p.Pro235=)
|
rs978911023
|
0.00006
|
|
NM_177550.5(SLC13A5):c.1055+16A>C
|
rs756534283
|
0.00006
|
|
NM_177550.5(SLC13A5):c.1068T>C (p.Asp356=)
|
rs369080598
|
0.00006
|
|
NM_177550.5(SLC13A5):c.547+8C>T
|
rs1270343571
|
0.00006
|
|
NM_177550.5(SLC13A5):c.548-17C>T
|
rs761273591
|
0.00006
|
|
NM_177550.5(SLC13A5):c.663C>T (p.Thr221=)
|
rs373831482
|
0.00006
|
|
NM_177550.5(SLC13A5):c.714C>T (p.Asn238=)
|
rs754553205
|
0.00006
|
|
NM_203446.3(SYNJ1):c.*411C>T
|
rs369666497
|
0.00006
|
|
NM_203446.3(SYNJ1):c.-31G>C
|
rs751083536
|
0.00006
|
|
NM_203446.3(SYNJ1):c.1045A>G (p.Ser349Gly)
|
rs202234473
|
0.00006
|
|
NM_203446.3(SYNJ1):c.1245T>C (p.Pro415=)
|
rs111655347
|
0.00006
|
|
NM_203446.3(SYNJ1):c.1968T>C (p.Asp656=)
|
rs140112176
|
0.00006
|
|
NM_203446.3(SYNJ1):c.2157A>G (p.Leu719=)
|
rs112875942
|
0.00006
|
|
NM_203446.3(SYNJ1):c.2580-20A>G
|
rs770095122
|
0.00006
|
|
NM_203446.3(SYNJ1):c.2909G>C (p.Ser970Thr)
|
rs537389515
|
0.00006
|
|
NM_203446.3(SYNJ1):c.2955A>G (p.Lys985=)
|
rs534726886
|
0.00006
|
|
NM_203446.3(SYNJ1):c.3392-5A>G
|
rs776721216
|
0.00006
|
|
NM_203446.3(SYNJ1):c.3697+12T>G
|
rs763338383
|
0.00006
|
|
NM_000330.4(RS1):c.184+3143G>T
|
rs757994307
|
0.00005
|
|
NM_000330.4(RS1):c.326+1115G>A
|
rs951430019
|
0.00005
|
|
NM_000834.5(GRIN2B):c.1500+7G>A
|
rs201094275
|
0.00005
|
|
NM_000834.5(GRIN2B):c.1780+19G>A
|
rs201169461
|
0.00005
|
|
NM_000834.5(GRIN2B):c.1875G>C (p.Gly625=)
|
rs201095094
|
0.00005
|
|
NM_000834.5(GRIN2B):c.2359+16G>A
|
rs781365670
|
0.00005
|
|
NM_000834.5(GRIN2B):c.3174C>T (p.Ser1058=)
|
rs772364390
|
0.00005
|
|
NM_000834.5(GRIN2B):c.514G>A (p.Val172Ile)
|
rs201377003
|
0.00005
|
|
NM_000834.5(GRIN2B):c.975C>T (p.His325=)
|
rs200380868
|
0.00005
|
|
NM_001032221.6(STXBP1):c.1386G>A (p.Pro462=)
|
rs201146381
|
0.00005
|
|
NM_001032221.6(STXBP1):c.1680C>T (p.Asn560=)
|
rs201809337
|
0.00005
|
|
NM_001032221.6(STXBP1):c.281C>T (p.Pro94Leu)
|
rs200802985
|
0.00005
|
|
NM_001040142.2(SCN2A):c.1177-16C>G
|
rs553983883
|
0.00005
|
|
NM_001040142.2(SCN2A):c.2661A>G (p.Val887=)
|
rs749540280
|
0.00005
|
|
NM_001040142.2(SCN2A):c.5043T>C (p.Asn1681=)
|
rs770118417
|
0.00005
|
|
NM_001040142.2(SCN2A):c.5217A>C (p.Gly1739=)
|
rs2227899
|
0.00005
|
|
NM_001040142.2(SCN2A):c.789G>A (p.Ala263=)
|
rs775625143
|
0.00005
|
|
NM_001040142.2(SCN2A):c.915T>A (p.Thr305=)
|
rs1193774137
|
0.00005
|
|
NM_001099922.3(ALG13):c.1087+18A>G
|
rs374773161
|
0.00005
|
|
NM_001099922.3(ALG13):c.1377C>G (p.Ala459=)
|
rs368020541
|
0.00005
|
|
NM_001099922.3(ALG13):c.139G>A (p.Val47Ile)
|
rs766512298
|
0.00005
|
|
NM_001099922.3(ALG13):c.1831C>T (p.Leu611Phe)
|
rs199505558
|
0.00005
|
|
NM_001099922.3(ALG13):c.2213A>G (p.Glu738Gly)
|
rs374174400
|
0.00005
|
|
NM_001099922.3(ALG13):c.2805T>A (p.Pro935=)
|
rs754346057
|
0.00005
|
|
NM_001099922.3(ALG13):c.3240A>G (p.Pro1080=)
|
rs773452673
|
0.00005
|
|
NM_001099922.3(ALG13):c.880C>G (p.Pro294Ala)
|
rs753556936
|
0.00005
|
|
NM_001127222.2(CACNA1A):c.105C>T (p.Gly35=)
|
rs745876675
|
0.00005
|
|
NM_001127222.2(CACNA1A):c.1199-9C>T
|
rs529977616
|
0.00005
|
|
NM_001127222.2(CACNA1A):c.1305C>T (p.Pro435=)
|
rs376451601
|
0.00005
|
|
NM_001127222.2(CACNA1A):c.2328G>A (p.Gln776=)
|
rs754796882
|
0.00005
|
|
NM_001127222.2(CACNA1A):c.2547C>T (p.Leu849=)
|
rs768719398
|
0.00005
|
|
NM_001127222.2(CACNA1A):c.2626G>A (p.Gly876Ser)
|
rs763054302
|
0.00005
|
|
NM_001127222.2(CACNA1A):c.3123C>A (p.Gly1041=)
|
rs377466062
|
0.00005
|
|
NM_001127222.2(CACNA1A):c.4125C>T (p.Asn1375=)
|
rs767026062
|
0.00005
|
|
NM_001127222.2(CACNA1A):c.4896C>T (p.Phe1632=)
|
rs374613316
|
0.00005
|
|
NM_001127222.2(CACNA1A):c.5268T>C (p.Ala1756=)
|
rs373678557
|
0.00005
|
|
NM_001127222.2(CACNA1A):c.561G>A (p.Thr187=)
|
rs777316026
|
0.00005
|
|
NM_001127222.2(CACNA1A):c.5931C>T (p.Arg1977=)
|
rs377136737
|
0.00005
|
|
NM_001127222.2(CACNA1A):c.631+15G>A
|
rs372178435
|
0.00005
|
|
NM_001127222.2(CACNA1A):c.633T>C (p.Ser211=)
|
rs202216404
|
0.00005
|
|
NM_001127222.2(CACNA1A):c.6473G>A (p.Arg2158His)
|
rs375859889
|
0.00005
|
|
NM_001127222.2(CACNA1A):c.6663G>A (p.Pro2221=)
|
rs1447103387
|
0.00005
|
|
NM_001127222.2(CACNA1A):c.6695G>A (p.Arg2232Gln)
|
rs777894367
|
0.00005
|
|
NM_001127222.2(CACNA1A):c.6751G>A (p.Glu2251Lys)
|
rs758625682
|
0.00005
|
|
NM_001127222.2(CACNA1A):c.6770C>T (p.Ala2257Val)
|
rs755099305
|
0.00005
|
|
NM_001127222.2(CACNA1A):c.807G>A (p.Pro269=)
|
rs772730357
|
0.00005
|
|
NM_001130438.3(SPTAN1):c.1806+4A>G
|
rs770046688
|
0.00005
|
|
NM_001130438.3(SPTAN1):c.2561-18T>C
|
rs369772583
|
0.00005
|
|
NM_001130438.3(SPTAN1):c.2871+8T>C
|
rs1485998372
|
0.00005
|
|
NM_001130438.3(SPTAN1):c.3156-13C>T
|
rs371673291
|
0.00005
|
|
NM_001130438.3(SPTAN1):c.3520-19T>G
|
rs373387372
|
0.00005
|
|
NM_001130438.3(SPTAN1):c.3639G>A (p.Glu1213=)
|
rs750007543
|
0.00005
|
|
NM_001130438.3(SPTAN1):c.3719+17G>A
|
rs539026080
|
0.00005
|
|
NM_001130438.3(SPTAN1):c.3915G>A (p.Glu1305=)
|
rs761628910
|
0.00005
|
|
NM_001130438.3(SPTAN1):c.391T>C (p.Trp131Arg)
|
rs142120579
|
0.00005
|
|
NM_001130438.3(SPTAN1):c.4075C>T (p.Arg1359Trp)
|
rs150944593
|
0.00005
|
|
NM_001130438.3(SPTAN1):c.4188G>A (p.Gln1396=)
|
rs763156575
|
0.00005
|
|
NM_001130438.3(SPTAN1):c.4540G>A (p.Ala1514Thr)
|
rs145551982
|
0.00005
|
|
NM_001130438.3(SPTAN1):c.4959G>A (p.Ala1653=)
|
rs775224497
|
0.00005
|
|
NM_001130438.3(SPTAN1):c.5331C>T (p.Asp1777=)
|
rs758017157
|
0.00005
|
|
NM_001130438.3(SPTAN1):c.5478+13C>T
|
rs369615023
|
0.00005
|
|
NM_001130438.3(SPTAN1):c.6247A>C (p.Lys2083Gln)
|
rs757178508
|
0.00005
|
|
NM_001130438.3(SPTAN1):c.7284C>T (p.Tyr2428=)
|
rs201348505
|
0.00005
|
|
NM_001165963.4(SCN1A):c.1440A>C (p.Ser480=)
|
rs201383347
|
0.00005
|
|
NM_001165963.4(SCN1A):c.1457C>G (p.Ala486Gly)
|
rs777120925
|
0.00005
|
|
NM_001165963.4(SCN1A):c.1499G>A (p.Arg500Gln)
|
rs200176684
|
0.00005
|
|
NM_001165963.4(SCN1A):c.2094C>T (p.His698=)
|
rs372260058
|
0.00005
|
|
NM_001165963.4(SCN1A):c.2125C>G (p.Gln709Glu)
|
rs370037455
|
0.00005
|
|
NM_001165963.4(SCN1A):c.3060C>A (p.His1020Gln)
|
rs150154265
|
0.00005
|
|
NM_001165963.4(SCN1A):c.3166A>G (p.Asn1056Asp)
|
rs746016312
|
0.00005
|
|
NM_001165963.4(SCN1A):c.3330T>C (p.Ser1110=)
|
rs587781145
|
0.00005
|
|
NM_001165963.4(SCN1A):c.72T>C (p.Ala24=)
|
rs922097254
|
0.00005
|
|
NM_001184880.2(PCDH19):c.1644G>A (p.Thr548=)
|
rs372952752
|
0.00005
|
|
NM_001184880.2(PCDH19):c.2430C>T (p.Ser810=)
|
rs751223449
|
0.00005
|
|
NM_001184880.2(PCDH19):c.2976G>A (p.Ala992=)
|
rs772345040
|
0.00005
|
|
NM_001184880.2(PCDH19):c.3320G>A (p.Arg1107His)
|
rs200021840
|
0.00005
|
|
NM_001184880.2(PCDH19):c.34C>T (p.Leu12=)
|
rs769164159
|
0.00005
|
|
NM_001191061.2(SLC25A22):c.146+7G>A
|
rs376889561
|
0.00005
|
|
NM_001191061.2(SLC25A22):c.222C>T (p.Thr74=)
|
rs1476954002
|
0.00005
|
|
NM_001191061.2(SLC25A22):c.783C>T (p.Asn261=)
|
rs760890948
|
0.00005
|
|
NM_001191061.2(SLC25A22):c.819-16C>T
|
rs572751087
|
0.00005
|
|
NM_001199107.2(TBC1D24):c.1125C>T (p.His375=)
|
rs749163517
|
0.00005
|
|
NM_001199107.2(TBC1D24):c.1392C>T (p.Thr464=)
|
rs199865687
|
0.00005
|
|
NM_001199107.2(TBC1D24):c.1525+17G>A
|
rs537260143
|
0.00005
|
|
NM_001199107.2(TBC1D24):c.768C>T (p.Ala256=)
|
rs778001053
|
0.00005
|
|
NM_001271.4(CHD2):c.1049A>T (p.Gln350Leu)
|
rs200120256
|
0.00005
|
|
NM_001271.4(CHD2):c.1719+12A>G
|
rs754059204
|
0.00005
|
|
NM_001271.4(CHD2):c.2562T>C (p.Asn854=)
|
rs1035687846
|
0.00005
|
|
NM_001271.4(CHD2):c.2835C>T (p.Thr945=)
|
rs752124959
|
0.00005
|
|
NM_001271.4(CHD2):c.4482C>T (p.Asn1494=)
|
rs565686460
|
0.00005
|
|
NM_001271.4(CHD2):c.4644G>A (p.Leu1548=)
|
rs138836603
|
0.00005
|
|
NM_001271.4(CHD2):c.5154-19C>T
|
rs777949860
|
0.00005
|
|
NM_001323289.2(CDKL5):c.192T>G (p.Leu64=)
|
rs145496868
|
0.00005
|
|
NM_001323289.2(CDKL5):c.2469C>T (p.Pro823=)
|
rs369377144
|
0.00005
|
|
NM_001323289.2(CDKL5):c.747T>C (p.Phe249=)
|
rs1249923057
|
0.00005
|
|
NM_001330260.2(SCN8A):c.1611G>A (p.Gly537=)
|
rs774383541
|
0.00005
|
|
NM_001330260.2(SCN8A):c.3351G>A (p.Ser1117=)
|
rs776017244
|
0.00005
|
|
NM_001330260.2(SCN8A):c.3442G>A (p.Val1148Met)
|
rs536452913
|
0.00005
|
|
NM_001330260.2(SCN8A):c.3942+15G>A
|
rs757263803
|
0.00005
|
|
NM_001330260.2(SCN8A):c.4350C>T (p.Phe1450=)
|
rs753234714
|
0.00005
|
|
NM_001330260.2(SCN8A):c.474G>A (p.Ser158=)
|
rs374989727
|
0.00005
|
|
NM_001330260.2(SCN8A):c.5490C>T (p.Ile1830=)
|
rs200546525
|
0.00005
|
|
NM_001330723.2(SNX27):c.138C>T (p.Ile46=)
|
rs776920317
|
0.00005
|
|
NM_001330723.2(SNX27):c.1464C>T (p.Phe488=)
|
rs767464354
|
0.00005
|
|
NM_001330723.2(SNX27):c.396G>C (p.Val132=)
|
rs756186623
|
0.00005
|
|
NM_001330723.2(SNX27):c.772A>G (p.Met258Val)
|
rs146222009
|
0.00005
|
|
NM_001353921.2(ARHGEF9):c.1390+18A>G
|
rs782653539
|
0.00005
|
|
NM_001353921.2(ARHGEF9):c.1391-4C>G
|
rs1556301481
|
0.00005
|
|
NM_001353921.2(ARHGEF9):c.1443G>A (p.Pro481=)
|
rs782097997
|
0.00005
|
|
NM_001353921.2(ARHGEF9):c.1465G>C (p.Val489Leu)
|
rs369081815
|
0.00005
|
|
NM_001353921.2(ARHGEF9):c.381G>A (p.Lys127=)
|
rs55818901
|
0.00005
|
|
NM_001367561.1(DOCK7):c.3582G>A (p.Leu1194=)
|
rs148443279
|
0.00005
|
|
NM_001367561.1(DOCK7):c.4380-16C>A
|
rs534283414
|
0.00005
|
|
NM_001958.5(EEF1A2):c.621+9C>T
|
rs758255976
|
0.00005
|
|
NM_001958.5(EEF1A2):c.738G>C (p.Leu246=)
|
rs1333751988
|
0.00005
|
|
NM_001958.5(EEF1A2):c.773-14C>T
|
rs754466423
|
0.00005
|
|
NM_001958.5(EEF1A2):c.773-6C>T
|
rs377166905
|
0.00005
|
|
NM_001958.5(EEF1A2):c.912C>T (p.Pro304=)
|
rs370076840
|
0.00005
|
|
NM_004408.4(DNM1):c.1422+7C>A
|
rs761674210
|
0.00005
|
|
NM_004408.4(DNM1):c.1893+12G>A
|
rs376700785
|
0.00005
|
|
NM_004408.4(DNM1):c.2226C>T (p.Ile742=)
|
rs760982623
|
0.00005
|
|
NM_004974.4(KCNA2):c.1107C>T (p.Val369=)
|
rs141466713
|
0.00005
|
|
NM_004975.4(KCNB1):c.2327A>G (p.Lys776Arg)
|
rs756982426
|
0.00005
|
|
NM_004975.4(KCNB1):c.39C>T (p.Thr13=)
|
rs775536644
|
0.00005
|
|
NM_004975.4(KCNB1):c.504C>T (p.Cys168=)
|
rs139960830
|
0.00005
|
|
NM_004975.4(KCNB1):c.855C>T (p.Ser285=)
|
rs367938880
|
0.00005
|
|
NM_005249.5(FOXG1):c.1254C>T (p.Phe418=)
|
rs777770149
|
0.00005
|
|
NM_006030.4(CACNA2D2):c.1377C>T (p.Arg459=)
|
rs1032435949
|
0.00005
|
|
NM_006030.4(CACNA2D2):c.1845+12G>C
|
rs375449776
|
0.00005
|
|
NM_006030.4(CACNA2D2):c.2045+10G>A
|
rs371372561
|
0.00005
|
|
NM_006030.4(CACNA2D2):c.2234+17C>G
|
rs768136232
|
0.00005
|
|
NM_006030.4(CACNA2D2):c.2802G>A (p.Gln934=)
|
rs913350862
|
0.00005
|
|
NM_006030.4(CACNA2D2):c.306G>C (p.Arg102=)
|
rs547024561
|
0.00005
|
|
NM_006279.5(ST3GAL3):c.1039-10C>G
|
rs368686280
|
0.00005
|
|
NM_006279.5(ST3GAL3):c.945C>T (p.Asp315=)
|
rs748922857
|
0.00005
|
|
NM_007254.4(PNKP):c.1126+7G>A
|
rs368201882
|
0.00005
|
|
NM_007254.4(PNKP):c.1387-48_1387-32del
|
rs537912514
|
0.00005
|
|
NM_007254.4(PNKP):c.1448+12G>A
|
rs770634541
|
0.00005
|
|
NM_007254.4(PNKP):c.351T>C (p.Asp117=)
|
rs545664057
|
0.00005
|
|
NM_014191.4(SCN8A):c.657A>G (p.Leu219=)
|
rs773009820
|
0.00005
|
|
NM_014334.4(FRRS1L):c.492T>C (p.His164=)
|
rs201285410
|
0.00005
|
|
NM_015192.4(PLCB1):c.114T>C (p.Val38=)
|
rs146304198
|
0.00005
|
|
NM_015192.4(PLCB1):c.1470C>T (p.Tyr490=)
|
rs13042803
|
0.00005
|
|
NM_015192.4(PLCB1):c.1536C>T (p.Asp512=)
|
rs544749418
|
0.00005
|
|
NM_015192.4(PLCB1):c.1763+17G>A
|
rs377762613
|
0.00005
|
|
NM_015192.4(PLCB1):c.1767T>C (p.Tyr589=)
|
rs554169035
|
0.00005
|
|
NM_015192.4(PLCB1):c.2091G>A (p.Val697=)
|
rs556016271
|
0.00005
|
|
NM_015509.4(NECAP1):c.301+15A>C
|
rs779900246
|
0.00005
|
|
NM_015509.4(NECAP1):c.417A>G (p.Glu139=)
|
rs778506326
|
0.00005
|
|
NM_016373.4(WWOX):c.1077C>T (p.Thr359=)
|
rs150912992
|
0.00005
|
|
NM_016373.4(WWOX):c.231-9T>C
|
rs766689304
|
0.00005
|
|
NM_016373.4(WWOX):c.315A>G (p.Gln105=)
|
rs752822745
|
0.00005
|
|
NM_016373.4(WWOX):c.324C>T (p.Asp108=)
|
rs377442022
|
0.00005
|
|
NM_016373.4(WWOX):c.630C>T (p.Asn210=)
|
rs547619401
|
0.00005
|
|
NM_016373.4(WWOX):c.867G>A (p.Ala289=)
|
rs755002954
|
0.00005
|
|
NM_020708.5(SLC12A5):c.1128G>A (p.Ser376=)
|
rs6073997
|
0.00005
|
|
NM_020708.5(SLC12A5):c.1140C>T (p.Ala380=)
|
rs767985242
|
0.00005
|
|
NM_020708.5(SLC12A5):c.2289C>T (p.Leu763=)
|
rs138144890
|
0.00005
|
|
NM_020822.3(KCNT1):c.1035+17C>T
|
rs375391930
|
0.00005
|
|
NM_020822.3(KCNT1):c.1337+7G>A
|
rs374975940
|
0.00005
|
|
NM_020822.3(KCNT1):c.1402-5G>A
|
rs573411729
|
0.00005
|
|
NM_020822.3(KCNT1):c.1402-6C>T
|
rs755796820
|
0.00005
|
|
NM_020822.3(KCNT1):c.1689C>T (p.His563=)
|
rs765616016
|
0.00005
|
|
NM_020822.3(KCNT1):c.2008+20C>T
|
rs371649094
|
0.00005
|
|
NM_020822.3(KCNT1):c.2349+12G>A
|
rs769180254
|
0.00005
|
|
NM_020822.3(KCNT1):c.2841+11C>T
|
rs901557898
|
0.00005
|
|
NM_020822.3(KCNT1):c.309G>T (p.Leu103=)
|
rs767894239
|
0.00005
|
|
NM_020822.3(KCNT1):c.335-5C>T
|
rs745658927
|
0.00005
|
|
NM_020822.3(KCNT1):c.3437G>A (p.Arg1146His)
|
rs368339692
|
0.00005
|
|
NM_020822.3(KCNT1):c.408C>T (p.Leu136=)
|
rs370046449
|
0.00005
|
|
NM_020822.3(KCNT1):c.77C>T (p.Thr26Ile)
|
rs143015526
|
0.00005
|
|
NM_031844.3(HNRNPU):c.1017+10A>G
|
rs778904488
|
0.00005
|
|
NM_031844.3(HNRNPU):c.1575T>C (p.Tyr525=)
|
rs112266429
|
0.00005
|
|
NM_031844.3(HNRNPU):c.1794C>T (p.Gly598=)
|
rs369567187
|
0.00005
|
|
NM_031844.3(HNRNPU):c.282A>G (p.Glu94=)
|
rs990170673
|
0.00005
|
|
NM_031844.3(HNRNPU):c.458G>A (p.Gly153Asp)
|
rs369208639
|
0.00005
|
|
NM_031844.3(HNRNPU):c.691+18C>T
|
rs765471448
|
0.00005
|
|
NM_139058.3(ARX):c.1263G>C (p.Pro421=)
|
rs923672115
|
0.00005
|
|
NM_139058.3(ARX):c.642C>A (p.Ala214=)
|
rs997439358
|
0.00005
|
|
NM_139318.5(KCNH5):c.1239C>G (p.Pro413=)
|
rs140173107
|
0.00005
|
|
NM_139318.5(KCNH5):c.304A>C (p.Arg102=)
|
rs141909523
|
0.00005
|
|
NM_152743.4(BRAT1):c.430+9G>A
|
rs758201077
|
0.00005
|
|
NM_152743.4(BRAT1):c.657C>T (p.Asn219=)
|
rs143559840
|
0.00005
|
|
NM_172107.4(KCNQ2):c.1526-7C>G
|
rs761567082
|
0.00005
|
|
NM_172107.4(KCNQ2):c.2001G>A (p.Ala667=)
|
rs760711257
|
0.00005
|
|
NM_172107.4(KCNQ2):c.2377G>T (p.Val793Leu)
|
rs377227909
|
0.00005
|
|
NM_172107.4(KCNQ2):c.2454C>T (p.Asn818=)
|
rs748097158
|
0.00005
|
|
NM_172107.4(KCNQ2):c.2574C>T (p.Gly858=)
|
rs370089050
|
0.00005
|
|
NM_173354.5(SIK1):c.1055A>G (p.Gln352Arg)
|
rs767076281
|
0.00005
|
|
NM_173354.5(SIK1):c.1120-9C>T
|
rs368589807
|
0.00005
|
|
NM_173354.5(SIK1):c.1458G>A (p.Ala486=)
|
rs147572735
|
0.00005
|
|
NM_173354.5(SIK1):c.1463-19C>T
|
rs200243090
|
0.00005
|
|
NM_173354.5(SIK1):c.1628T>C (p.Leu543Pro)
|
rs144694596
|
0.00005
|
|
NM_173354.5(SIK1):c.2013C>T (p.Pro671=)
|
rs757730365
|
0.00005
|
|
NM_173354.5(SIK1):c.2151C>T (p.Gly717=)
|
rs532529872
|
0.00005
|
|
NM_173354.5(SIK1):c.338-9G>T
|
rs763842347
|
0.00005
|
|
NM_173354.5(SIK1):c.642G>A (p.Leu214=)
|
rs761176948
|
0.00005
|
|
NM_173354.5(SIK1):c.880G>A (p.Ala294Thr)
|
rs776214001
|
0.00005
|
|
NM_173354.5(SIK1):c.976C>T (p.Leu326=)
|
rs776898340
|
0.00005
|
|
NM_173728.4(ARHGEF15):c.1785C>T (p.Ile595=)
|
rs779827070
|
0.00005
|
|
NM_173728.4(ARHGEF15):c.879C>T (p.Phe293=)
|
rs764749566
|
0.00005
|
|
NM_177550.5(SLC13A5):c.1449C>T (p.Ile483=)
|
rs769760541
|
0.00005
|
|
NM_177550.5(SLC13A5):c.498C>T (p.Thr166=)
|
rs906604048
|
0.00005
|
|
NM_203446.3(SYNJ1):c.*618A>G
|
rs139212871
|
0.00005
|
|
NM_203446.3(SYNJ1):c.*721C>T
|
rs748387512
|
0.00005
|
|
NM_203446.3(SYNJ1):c.1119-7G>C
|
rs562245468
|
0.00005
|
|
NM_203446.3(SYNJ1):c.1510+20T>C
|
rs112067922
|
0.00005
|
|
NM_203446.3(SYNJ1):c.1535C>T (p.Ala512Val)
|
rs115989459
|
0.00005
|
|
NM_203446.3(SYNJ1):c.2172T>C (p.Tyr724=)
|
rs144454116
|
0.00005
|
|
NM_203446.3(SYNJ1):c.2976A>G (p.Ser992=)
|
rs115204185
|
0.00005
|
|
NM_203446.3(SYNJ1):c.3378T>A (p.Pro1126=)
|
rs376132504
|
0.00005
|
|
NM_000330.4(RS1):c.185-3221G>C
|
rs374054249
|
0.00004
|
|
NM_000330.4(RS1):c.326+1151T>C
|
rs774743991
|
0.00004
|
|
NM_000834.5(GRIN2B):c.170A>T (p.Asp57Val)
|
rs1019298480
|
0.00004
|
|
NM_000834.5(GRIN2B):c.1767C>T (p.Leu589=)
|
rs763286576
|
0.00004
|
|
NM_000834.5(GRIN2B):c.1780+18C>T
|
rs776489041
|
0.00004
|
|
NM_000834.5(GRIN2B):c.2145T>C (p.Asp715=)
|
rs368555085
|
0.00004
|
|
NM_000834.5(GRIN2B):c.2247G>A (p.Val749=)
|
rs757990373
|
0.00004
|
|
NM_000834.5(GRIN2B):c.2661C>A (p.Pro887=)
|
rs201157664
|
0.00004
|
|
NM_000834.5(GRIN2B):c.2826G>A (p.Thr942=)
|
rs140573925
|
0.00004
|
|
NM_000834.5(GRIN2B):c.282C>A (p.Ile94=)
|
rs147132902
|
0.00004
|
|
NM_000834.5(GRIN2B):c.2910C>T (p.Phe970=)
|
rs201252525
|
0.00004
|
|
NM_000834.5(GRIN2B):c.3000C>T (p.Ile1000=)
|
rs772837930
|
0.00004
|
|
NM_000834.5(GRIN2B):c.3714G>T (p.Ala1238=)
|
rs760725802
|
0.00004
|
|
NM_000834.5(GRIN2B):c.4179C>T (p.Asp1393=)
|
rs199529615
|
0.00004
|
|
NM_000834.5(GRIN2B):c.4194C>T (p.Leu1398=)
|
rs201247892
|
0.00004
|
|
NM_000834.5(GRIN2B):c.61G>A (p.Val21Met)
|
rs79046967
|
0.00004
|
|
NM_000834.5(GRIN2B):c.630C>T (p.Asp210=)
|
rs202115787
|
0.00004
|
|
NM_001032221.6(STXBP1):c.1250-19G>A
|
rs370856785
|
0.00004
|
|
NM_001032221.6(STXBP1):c.132C>T (p.Cys44=)
|
rs373660650
|
0.00004
|
|
NM_001032221.6(STXBP1):c.1359+16A>C
|
rs778666479
|
0.00004
|
|
NM_001032221.6(STXBP1):c.1455C>T (p.Ile485=)
|
rs780944199
|
0.00004
|
|
NM_001032221.6(STXBP1):c.1542C>T (p.Ala514=)
|
rs146226703
|
0.00004
|
|
NM_001032221.6(STXBP1):c.156C>T (p.Thr52=)
|
rs767019310
|
0.00004
|
|
NM_001032221.6(STXBP1):c.1683A>G (p.Gly561=)
|
rs200525496
|
0.00004
|
|
NM_001032221.6(STXBP1):c.1702+7G>C
|
rs763504927
|
0.00004
|
|
NM_001032221.6(STXBP1):c.297C>T (p.Tyr99=)
|
rs149736085
|
0.00004
|
|
NM_001032221.6(STXBP1):c.299G>A (p.Arg100Gln)
|
rs374269726
|
0.00004
|
|
NM_001032221.6(STXBP1):c.430-9C>T
|
rs748770943
|
0.00004
|
|
NM_001032221.6(STXBP1):c.783T>C (p.Asn261=)
|
rs955182405
|
0.00004
|
|
NM_001032221.6(STXBP1):c.885C>T (p.His295=)
|
rs550123888
|
0.00004
|
|
NM_001032221.6(STXBP1):c.902+18C>G
|
rs374633678
|
0.00004
|
|
NM_001040142.2(SCN2A):c.1386G>A (p.Ala462=)
|
rs145912536
|
0.00004
|
|
NM_001040142.2(SCN2A):c.1527A>G (p.Lys509=)
|
rs150087890
|
0.00004
|
|
NM_001040142.2(SCN2A):c.1536A>G (p.Glu512=)
|
rs201680546
|
0.00004
|
|
NM_001040142.2(SCN2A):c.1571G>A (p.Arg524Gln)
|
rs186154973
|
0.00004
|
|
NM_001040142.2(SCN2A):c.1605A>G (p.Lys535=)
|
rs367647572
|
0.00004
|
|
NM_001040142.2(SCN2A):c.1621T>C (p.Leu541=)
|
rs763631456
|
0.00004
|
|
NM_001040142.2(SCN2A):c.1939G>A (p.Ala647Thr)
|
rs548056312
|
0.00004
|
|
NM_001040142.2(SCN2A):c.1953T>C (p.Asn651=)
|
rs199722574
|
0.00004
|
|
NM_001040142.2(SCN2A):c.2019C>G (p.Gly673=)
|
rs587781156
|
0.00004
|
|
NM_001040142.2(SCN2A):c.3348T>C (p.Asn1116=)
|
rs781717883
|
0.00004
|
|
NM_001040142.2(SCN2A):c.3411A>G (p.Ala1137=)
|
rs112270017
|
0.00004
|
|
NM_001040142.2(SCN2A):c.3676-20T>C
|
rs1057522535
|
0.00004
|
|
NM_001040142.2(SCN2A):c.3753C>T (p.Tyr1251=)
|
rs770116598
|
0.00004
|
|
NM_001040142.2(SCN2A):c.4551+10A>G
|
rs767957352
|
0.00004
|
|
NM_001040142.2(SCN2A):c.4552-14A>G
|
rs775130301
|
0.00004
|
|
NM_001040142.2(SCN2A):c.4842G>T (p.Leu1614=)
|
rs148604854
|
0.00004
|
|
NM_001040142.2(SCN2A):c.5022C>T (p.Tyr1674=)
|
rs186157680
|
0.00004
|
|
NM_001040142.2(SCN2A):c.5097C>G (p.Thr1699=)
|
rs950010627
|
0.00004
|
|
NM_001040142.2(SCN2A):c.5367T>C (p.Pro1789=)
|
rs761507234
|
0.00004
|
|
NM_001040142.2(SCN2A):c.605+19T>C
|
rs373120658
|
0.00004
|
|
NM_001040142.2(SCN2A):c.840A>G (p.Gln280=)
|
rs377200041
|
0.00004
|
|
NM_001099922.3(ALG13):c.1304A>G (p.Asn435Ser)
|
rs747478031
|
0.00004
|
|
NM_001099922.3(ALG13):c.1388A>G (p.Glu463Gly)
|
rs184599884
|
0.00004
|
|
NM_001099922.3(ALG13):c.2013G>A (p.Pro671=)
|
rs775697727
|
0.00004
|
|
NM_001099922.3(ALG13):c.246T>G (p.Gly82=)
|
rs1934561313
|
0.00004
|
|
NM_001099922.3(ALG13):c.2808T>A (p.Pro936=)
|
rs1402009098
|
0.00004
|
|
NM_001099922.3(ALG13):c.2811T>A (p.Pro937=)
|
rs1464628002
|
0.00004
|
|
NM_001099922.3(ALG13):c.511A>G (p.Lys171Glu)
|
rs750037026
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.1080A>C (p.Ser360=)
|
rs920116858
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.1233G>A (p.Gly411=)
|
rs764453012
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.1262G>A (p.Arg421Gln)
|
rs752902118
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.1361G>A (p.Arg454Gln)
|
rs561858384
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.2105-8A>G
|
rs763822129
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.219G>C (p.Thr73=)
|
rs781239273
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.2279+12del
|
rs764839773
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.2280-16_2280-7del
|
rs756552078
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.2677C>T (p.Arg893Trp)
|
rs1262547488
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.2692G>A (p.Gly898Ser)
|
rs751726770
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.2712C>T (p.His904=)
|
rs759320715
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.2718G>A (p.Arg906=)
|
rs909344317
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.27G>T (p.Pro9=)
|
rs547576283
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.2881C>T (p.His961Tyr)
|
rs1406066197
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.3106G>A (p.Gly1036Arg)
|
rs762343454
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.3120G>A (p.Ser1040=)
|
rs763969240
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.3122G>T (p.Gly1041Val)
|
rs370396470
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.3175C>T (p.Pro1059Ser)
|
rs775079932
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.3226G>A (p.Ala1076Thr)
|
rs554091859
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.3547G>A (p.Val1183Ile)
|
rs373224251
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.3612G>A (p.Glu1204=)
|
rs749273165
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.3621C>T (p.Asp1207=)
|
rs368211900
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.3622G>A (p.Asp1208Asn)
|
rs750231498
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.3843C>T (p.Tyr1281=)
|
rs774224202
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.3882+7G>A
|
rs376836245
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.3989+11T>C
|
rs762686149
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.4371G>A (p.Thr1457=)
|
rs368100270
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.4866+10A>G
|
rs746939321
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.486C>T (p.Gly162=)
|
rs753180610
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.4891A>G (p.Ile1631Val)
|
rs539463134
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.5067+11G>A
|
rs761890193
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.539+10G>A
|
rs375079448
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.5451C>T (p.Thr1817=)
|
rs188863534
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.5528+7A>G
|
rs367551746
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.5529-1222T>C
|
rs374688464
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.5922G>A (p.Gln1974=)
|
rs773419069
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.5945G>A (p.Arg1982Gln)
|
rs745775887
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.6160G>A (p.Asp2054Asn)
|
rs761560224
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.6189+9G>T
|
rs568861195
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.6235G>A (p.Glu2079Lys)
|
rs752513542
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.6304-14T>C
|
rs776930613
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.631+14C>T
|
rs1377159542
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.6339+12G>A
|
rs371246823
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.6339+9C>T
|
rs369361580
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.6715C>T (p.Arg2239Trp)
|
rs759576380
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.687C>T (p.Ile229=)
|
rs544057763
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.784+9A>G
|
rs746215285
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.984C>T (p.Asn328=)
|
rs772301380
|
0.00004
|
|
NM_001130438.3(SPTAN1):c.1338C>T (p.Ser446=)
|
rs185614333
|
0.00004
|
|
NM_001130438.3(SPTAN1):c.1536T>C (p.Phe512=)
|
rs762887917
|
0.00004
|
|
NM_001130438.3(SPTAN1):c.1581T>A (p.Asp527Glu)
|
rs971082831
|
0.00004
|
|
NM_001130438.3(SPTAN1):c.1968G>A (p.Val656=)
|
rs968327265
|
0.00004
|
|
NM_001130438.3(SPTAN1):c.2277G>A (p.Gln759=)
|
rs746674327
|
0.00004
|
|
NM_001130438.3(SPTAN1):c.2688T>C (p.Phe896=)
|
rs780858157
|
0.00004
|
|
NM_001130438.3(SPTAN1):c.2925C>T (p.Leu975=)
|
rs757453262
|
0.00004
|
|
NM_001130438.3(SPTAN1):c.3030C>T (p.Asn1010=)
|
rs202129574
|
0.00004
|
|
NM_001130438.3(SPTAN1):c.3134G>A (p.Arg1045Gln)
|
rs368406599
|
0.00004
|
|
NM_001130438.3(SPTAN1):c.3177C>T (p.Ala1059=)
|
rs369531936
|
0.00004
|
|
NM_001130438.3(SPTAN1):c.3186A>T (p.Val1062=)
|
rs372807389
|
0.00004
|
|
NM_001130438.3(SPTAN1):c.3215+15A>G
|
rs367678277
|
0.00004
|
|
NM_001130438.3(SPTAN1):c.3215+20T>G
|
rs781343185
|
0.00004
|
|
NM_001130438.3(SPTAN1):c.3510G>A (p.Val1170=)
|
rs935038001
|
0.00004
|
|
NM_001130438.3(SPTAN1):c.3673C>T (p.Arg1225Trp)
|
rs569997507
|
0.00004
|
|
NM_001130438.3(SPTAN1):c.4045C>T (p.Arg1349Trp)
|
rs771862017
|
0.00004
|
|
NM_001130438.3(SPTAN1):c.4533C>T (p.Leu1511=)
|
rs375026050
|
0.00004
|
|
NM_001130438.3(SPTAN1):c.4662A>G (p.Gln1554=)
|
rs767679923
|
0.00004
|
|
NM_001130438.3(SPTAN1):c.4800T>C (p.Phe1600=)
|
rs370609436
|
0.00004
|
|
NM_001130438.3(SPTAN1):c.505-4A>T
|
rs377129746
|
0.00004
|
|
NM_001130438.3(SPTAN1):c.529C>T (p.Leu177=)
|
rs145554993
|
0.00004
|
|
NM_001130438.3(SPTAN1):c.5409C>T (p.Gly1803=)
|
rs768322079
|
0.00004
|
|
NM_001130438.3(SPTAN1):c.5856C>T (p.Ile1952=)
|
rs141474640
|
0.00004
|
|
NM_001130438.3(SPTAN1):c.5907T>C (p.Ala1969=)
|
rs768986492
|
0.00004
|
|
NM_001130438.3(SPTAN1):c.603T>C (p.His201=)
|
rs370807034
|
0.00004
|
|
NM_001130438.3(SPTAN1):c.6150C>T (p.Ala2050=)
|
rs141602301
|
0.00004
|
|
NM_001130438.3(SPTAN1):c.6576+11C>T
|
rs374482693
|
0.00004
|
|
NM_001130438.3(SPTAN1):c.6711C>G (p.Ser2237=)
|
rs151012062
|
0.00004
|
|
NM_001130438.3(SPTAN1):c.6762+11G>A
|
rs775553506
|
0.00004
|
|
NM_001130438.3(SPTAN1):c.6763-8C>T
|
rs761978444
|
0.00004
|
|
NM_001130438.3(SPTAN1):c.6825C>T (p.Ala2275=)
|
rs755559513
|
0.00004
|
|
NM_001130438.3(SPTAN1):c.6858G>A (p.Lys2286=)
|
rs750291744
|
0.00004
|
|
NM_001130438.3(SPTAN1):c.6876C>T (p.Thr2292=)
|
rs886063509
|
0.00004
|
|
NM_001130438.3(SPTAN1):c.7135A>G (p.Ile2379Val)
|
rs770358940
|
0.00004
|
|
NM_001130438.3(SPTAN1):c.7248C>T (p.Ser2416=)
|
rs148984013
|
0.00004
|
|
NM_001130438.3(SPTAN1):c.7308+7G>A
|
rs373772795
|
0.00004
|
|
NM_001130438.3(SPTAN1):c.7401C>T (p.Tyr2467=)
|
rs766927132
|
0.00004
|
|
NM_001165963.4(SCN1A):c.132C>T (p.Asp44=)
|
rs372758956
|
0.00004
|
|
NM_001165963.4(SCN1A):c.1604G>A (p.Arg535His)
|
rs184524479
|
0.00004
|
|
NM_001165963.4(SCN1A):c.1770C>T (p.Phe590=)
|
rs146520391
|
0.00004
|
|
NM_001165963.4(SCN1A):c.2926A>C (p.Met976Leu)
|
rs773681556
|
0.00004
|
|
NM_001165963.4(SCN1A):c.2947-12G>A
|
rs371041932
|
0.00004
|
|
NM_001165963.4(SCN1A):c.3429+19G>C
|
rs945969546
|
0.00004
|
|
NM_001165963.4(SCN1A):c.3585T>C (p.Asn1195=)
|
rs138181528
|
0.00004
|
|
NM_001165963.4(SCN1A):c.3726T>C (p.Ile1242=)
|
rs760181074
|
0.00004
|
|
NM_001165963.4(SCN1A):c.3879+10G>A
|
rs202002728
|
0.00004
|
|
NM_001165963.4(SCN1A):c.4002+2150T>A
|
rs569906674
|
0.00004
|
|
NM_001165963.4(SCN1A):c.4002+2372C>T
|
rs996059069
|
0.00004
|
|
NM_001165963.4(SCN1A):c.4002+2374del
|
rs1260713650
|
0.00004
|
|
NM_001165963.4(SCN1A):c.4167C>T (p.Asp1389=)
|
rs376118833
|
0.00004
|
|
NM_001165963.4(SCN1A):c.429G>A (p.Val143=)
|
rs1050330603
|
0.00004
|
|
NM_001165963.4(SCN1A):c.4345C>T (p.Leu1449Phe)
|
rs768638174
|
0.00004
|
|
NM_001165963.4(SCN1A):c.4452T>C (p.Asp1484=)
|
rs1349846696
|
0.00004
|
|
NM_001165963.4(SCN1A):c.4556C>T (p.Pro1519Leu)
|
rs372425457
|
0.00004
|
|
NM_001165963.4(SCN1A):c.4791T>C (p.His1597=)
|
rs141051370
|
0.00004
|
|
NM_001165963.4(SCN1A):c.5007G>A (p.Ala1669=)
|
rs750366817
|
0.00004
|
|
NM_001165963.4(SCN1A):c.5547C>G (p.Leu1849=)
|
rs140529318
|
0.00004
|
|
NM_001165963.4(SCN1A):c.5823G>A (p.Thr1941=)
|
rs754371368
|
0.00004
|
|
NM_001165963.4(SCN1A):c.720G>C (p.Leu240=)
|
rs774487780
|
0.00004
|
|
NM_001184880.2(PCDH19):c.1246C>A (p.His416Asn)
|
rs778618689
|
0.00004
|
|
NM_001184880.2(PCDH19):c.2358C>T (p.Ile786=)
|
rs768467022
|
0.00004
|
|
NM_001184880.2(PCDH19):c.2361C>G (p.Arg787=)
|
rs754841050
|
0.00004
|
|
NM_001191061.2(SLC25A22):c.202+14C>T
|
rs587781168
|
0.00004
|
|
NM_001191061.2(SLC25A22):c.21-15C>T
|
rs759055009
|
0.00004
|
|
NM_001191061.2(SLC25A22):c.468C>T (p.Ala156=)
|
rs764277856
|
0.00004
|
|
NM_001191061.2(SLC25A22):c.636C>T (p.Asn212=)
|
rs760280356
|
0.00004
|
|
NM_001191061.2(SLC25A22):c.702G>A (p.Val234=)
|
rs750034215
|
0.00004
|
|
NM_001191061.2(SLC25A22):c.717C>T (p.Ala239=)
|
rs545592967
|
0.00004
|
|
NM_001191061.2(SLC25A22):c.726C>T (p.Ala242=)
|
rs771026197
|
0.00004
|
|
NM_001191061.2(SLC25A22):c.885C>T (p.Ile295=)
|
rs543285265
|
0.00004
|
|
NM_001191061.2(SLC25A22):c.888G>A (p.Ala296=)
|
rs768252518
|
0.00004
|
|
NM_001199107.2(TBC1D24):c.1142+14G>A
|
rs745904419
|
0.00004
|
|
NM_001199107.2(TBC1D24):c.1341C>T (p.Ile447=)
|
rs372317366
|
0.00004
|
|
NM_001199107.2(TBC1D24):c.330C>T (p.Gly110=)
|
rs779117497
|
0.00004
|
|
NM_001199107.2(TBC1D24):c.48C>T (p.Asp16=)
|
rs555276293
|
0.00004
|
|
NM_001199107.2(TBC1D24):c.534G>A (p.Ser178=)
|
rs144714321
|
0.00004
|
|
NM_001199107.2(TBC1D24):c.606G>A (p.Ser202=)
|
rs61731478
|
0.00004
|
|
NM_001199107.2(TBC1D24):c.759G>A (p.Lys253=)
|
rs190306450
|
0.00004
|
|
NM_001199107.2(TBC1D24):c.828C>T (p.Ile276=)
|
rs764252146
|
0.00004
|
|
NM_001199107.2(TBC1D24):c.864A>G (p.Lys288=)
|
rs777237669
|
0.00004
|
|
NM_001199107.2(TBC1D24):c.983+16T>A
|
rs1355546058
|
0.00004
|
|
NM_001199107.2(TBC1D24):c.984-12C>T
|
rs762896980
|
0.00004
|
|
NM_001271.4(CHD2):c.1359C>T (p.Ile453=)
|
rs777978644
|
0.00004
|
|
NM_001271.4(CHD2):c.1809+3G>A
|
rs778257286
|
0.00004
|
|
NM_001271.4(CHD2):c.2601A>G (p.Thr867=)
|
rs145367388
|
0.00004
|
|
NM_001271.4(CHD2):c.3012G>A (p.Thr1004=)
|
rs775751349
|
0.00004
|
|
NM_001271.4(CHD2):c.4025G>A (p.Arg1342Gln)
|
rs143503275
|
0.00004
|
|
NM_001271.4(CHD2):c.4032T>G (p.Pro1344=)
|
rs547927047
|
0.00004
|
|
NM_001271.4(CHD2):c.4458C>T (p.Leu1486=)
|
rs772169751
|
0.00004
|
|
NM_001271.4(CHD2):c.4592+17C>T
|
rs184611897
|
0.00004
|
|
NM_001271.4(CHD2):c.5247C>T (p.Pro1749=)
|
rs766244767
|
0.00004
|
|
NM_001271.4(CHD2):c.600A>G (p.Gly200=)
|
rs1057522302
|
0.00004
|
|
NM_001271.4(CHD2):c.987A>G (p.Gln329=)
|
rs758605280
|
0.00004
|
|
NM_001323289.2(CDKL5):c.100-7C>T
|
rs752279222
|
0.00004
|
|
NM_001323289.2(CDKL5):c.1122T>A (p.Ala374=)
|
rs141452495
|
0.00004
|
|
NM_001323289.2(CDKL5):c.145+6T>G
|
rs753819165
|
0.00004
|
|
NM_001323289.2(CDKL5):c.145+8T>G
|
rs757030306
|
0.00004
|
|
NM_001323289.2(CDKL5):c.1768G>A (p.Glu590Lys)
|
rs372629988
|
0.00004
|
|
NM_001323289.2(CDKL5):c.2465G>A (p.Arg822His)
|
rs376429571
|
0.00004
|
|
NM_001323289.2(CDKL5):c.2573G>A (p.Arg858His)
|
rs759083770
|
0.00004
|
|
NM_001323289.2(CDKL5):c.291C>T (p.Leu97=)
|
rs138125282
|
0.00004
|
|
NM_001323289.2(CDKL5):c.987C>T (p.Ala329=)
|
rs142665931
|
0.00004
|
|
NM_001330260.2(SCN8A):c.1215G>A (p.Leu405=)
|
rs751093826
|
0.00004
|
|
NM_001330260.2(SCN8A):c.1230G>A (p.Val410=)
|
rs1905244
|
0.00004
|
|
NM_001330260.2(SCN8A):c.1335G>A (p.Glu445=)
|
rs576113589
|
0.00004
|
|
NM_001330260.2(SCN8A):c.1431T>A (p.Ser477=)
|
rs746262411
|
0.00004
|
|
NM_001330260.2(SCN8A):c.1692C>T (p.Ser564=)
|
rs368959256
|
0.00004
|
|
NM_001330260.2(SCN8A):c.171C>T (p.Ser57=)
|
rs748773097
|
0.00004
|
|
NM_001330260.2(SCN8A):c.1999-4A>T
|
rs765240974
|
0.00004
|
|
NM_001330260.2(SCN8A):c.2463C>T (p.Asp821=)
|
rs773865400
|
0.00004
|
|
NM_001330260.2(SCN8A):c.2802C>T (p.Cys934=)
|
rs762791287
|
0.00004
|
|
NM_001330260.2(SCN8A):c.3090G>A (p.Glu1030=)
|
rs1057523246
|
0.00004
|
|
NM_001330260.2(SCN8A):c.3147C>T (p.Thr1049=)
|
rs567527548
|
0.00004
|
|
NM_001330260.2(SCN8A):c.3490+8G>A
|
rs1469519963
|
0.00004
|
|
NM_001330260.2(SCN8A):c.3491-10C>T
|
rs373221046
|
0.00004
|
|
NM_001330260.2(SCN8A):c.3819+13C>G
|
rs754542157
|
0.00004
|
|
NM_001330260.2(SCN8A):c.402T>C (p.Phe134=)
|
rs559668426
|
0.00004
|
|
NM_001330260.2(SCN8A):c.4524+20T>C
|
rs145702447
|
0.00004
|
|
NM_001330260.2(SCN8A):c.4962C>T (p.Ile1654=)
|
rs766702527
|
0.00004
|
|
NM_001330260.2(SCN8A):c.5558A>G (p.Lys1853Arg)
|
rs1410900258
|
0.00004
|
|
NM_001330260.2(SCN8A):c.707-19G>A
|
rs2306553
|
0.00004
|
|
NM_001330260.2(SCN8A):c.744G>A (p.Val248=)
|
rs201298141
|
0.00004
|
|
NM_001330260.2(SCN8A):c.867C>T (p.Asn289=)
|
rs375801783
|
0.00004
|
|
NM_001330260.2(SCN8A):c.95G>A (p.Ser32Asn)
|
rs375419028
|
0.00004
|
|
NM_001330723.2(SNX27):c.1149+10T>C
|
rs368706118
|
0.00004
|
|
NM_001330723.2(SNX27):c.1542C>T (p.Phe514=)
|
rs761223156
|
0.00004
|
|
NM_001330723.2(SNX27):c.801+19T>C
|
rs552244633
|
0.00004
|
|
NM_001330723.2(SNX27):c.907-15C>T
|
rs766328880
|
0.00004
|
|
NM_001330723.2(SNX27):c.912C>T (p.Ile304=)
|
rs529966476
|
0.00004
|
|
NM_001353921.2(ARHGEF9):c.372C>T (p.His124=)
|
rs138198839
|
0.00004
|
|
NM_001367561.1(DOCK7):c.2049C>T (p.Gly683=)
|
rs772818546
|
0.00004
|
|
NM_001367561.1(DOCK7):c.2184G>A (p.Ser728=)
|
rs769422184
|
0.00004
|
|
NM_001367561.1(DOCK7):c.2196A>G (p.Thr732=)
|
rs202233124
|
0.00004
|
|
NM_001367561.1(DOCK7):c.2421T>C (p.Ala807=)
|
rs777232268
|
0.00004
|
|
NM_001367561.1(DOCK7):c.2597-5T>C
|
rs368784807
|
0.00004
|
|
NM_001367561.1(DOCK7):c.2649G>A (p.Ala883=)
|
rs141603759
|
0.00004
|
|
NM_001367561.1(DOCK7):c.2958C>T (p.His986=)
|
rs151057814
|
0.00004
|
|
NM_001367561.1(DOCK7):c.3150C>T (p.Ser1050=)
|
rs139116748
|
0.00004
|
|
NM_001367561.1(DOCK7):c.3450T>C (p.Ser1150=)
|
rs371759341
|
0.00004
|
|
NM_001367561.1(DOCK7):c.3471+19T>C
|
rs764312302
|
0.00004
|
|
NM_001367561.1(DOCK7):c.3531C>T (p.Ser1177=)
|
rs778766754
|
0.00004
|
|
NM_001367561.1(DOCK7):c.39-5T>G
|
rs761965930
|
0.00004
|
|
NM_001367561.1(DOCK7):c.4401C>T (p.His1467=)
|
rs775069403
|
0.00004
|
|
NM_001367561.1(DOCK7):c.4404A>G (p.Glu1468=)
|
rs778079427
|
0.00004
|
|
NM_001367561.1(DOCK7):c.4476+20A>G
|
rs375658676
|
0.00004
|
|
NM_001367561.1(DOCK7):c.4765-9C>G
|
rs369208655
|
0.00004
|
|
NM_001367561.1(DOCK7):c.4863G>A (p.Lys1621=)
|
rs768760659
|
0.00004
|
|
NM_001367561.1(DOCK7):c.5025-6A>G
|
rs374306196
|
0.00004
|
|
NM_001367561.1(DOCK7):c.5362-18C>T
|
rs757262505
|
0.00004
|
|
NM_001367561.1(DOCK7):c.6212+9G>A
|
rs371569843
|
0.00004
|
|
NM_001958.5(EEF1A2):c.113C>T (p.Thr38Ile)
|
rs781157708
|
0.00004
|
|
NM_001958.5(EEF1A2):c.117T>C (p.Ile39=)
|
rs754859581
|
0.00004
|
|
NM_001958.5(EEF1A2):c.1218G>A (p.Pro406=)
|
rs377632570
|
0.00004
|
|
NM_001958.5(EEF1A2):c.1233T>C (p.Cys411=)
|
rs374077620
|
0.00004
|
|
NM_001958.5(EEF1A2):c.1380G>A (p.Lys460=)
|
rs1295987421
|
0.00004
|
|
NM_001958.5(EEF1A2):c.324+20C>T
|
rs199746748
|
0.00004
|
|
NM_001958.5(EEF1A2):c.354G>A (p.Ala118=)
|
rs143957818
|
0.00004
|
|
NM_001958.5(EEF1A2):c.399G>A (p.Thr133=)
|
rs146240185
|
0.00004
|
|
NM_001958.5(EEF1A2):c.513C>A (p.Val171=)
|
rs201149992
|
0.00004
|
|
NM_001958.5(EEF1A2):c.747G>A (p.Pro249=)
|
rs879640448
|
0.00004
|
|
NM_001958.5(EEF1A2):c.771C>T (p.Gly257=)
|
rs1047396966
|
0.00004
|
|
NM_002641.4(PIGA):c.456G>A (p.Thr152=)
|
rs776453997
|
0.00004
|
|
NM_004408.4(DNM1):c.1422+9C>T
|
rs760832551
|
0.00004
|
|
NM_004408.4(DNM1):c.1493+16G>C
|
rs746358072
|
0.00004
|
|
NM_004408.4(DNM1):c.2238C>T (p.Asn746=)
|
rs1057521629
|
0.00004
|
|
NM_004408.4(DNM1):c.2535-20G>C
|
rs753705712
|
0.00004
|
|
NM_004408.4(DNM1):c.386-19C>G
|
rs772469890
|
0.00004
|
|
NM_004408.4(DNM1):c.589+10C>T
|
rs987855255
|
0.00004
|
|
NM_004408.4(DNM1):c.589+15G>A
|
rs535456711
|
0.00004
|
|
NM_004408.4(DNM1):c.850-18C>T
|
rs763158060
|
0.00004
|
|
NM_004408.4(DNM1):c.850-8A>G
|
rs750891102
|
0.00004
|
|
NM_004974.4(KCNA2):c.1050G>A (p.Glu350=)
|
rs771963870
|
0.00004
|
|
NM_004974.4(KCNA2):c.1061G>A (p.Arg354Gln)
|
rs374827915
|
0.00004
|
|
NM_004974.4(KCNA2):c.1179A>G (p.Leu393=)
|
rs549281059
|
0.00004
|
|
NM_004974.4(KCNA2):c.168G>A (p.Glu56=)
|
rs768793748
|
0.00004
|
|
NM_004974.4(KCNA2):c.318A>G (p.Leu106=)
|
rs763135225
|
0.00004
|
|
NM_004974.4(KCNA2):c.840C>T (p.Asp280=)
|
rs571429123
|
0.00004
|
|
NM_004975.4(KCNB1):c.1336G>A (p.Val446Ile)
|
rs776968332
|
0.00004
|
|
NM_004975.4(KCNB1):c.1388T>C (p.Ile463Thr)
|
rs145421532
|
0.00004
|
|
NM_004975.4(KCNB1):c.1622C>A (p.Ser541Tyr)
|
rs374460751
|
0.00004
|
|
NM_004975.4(KCNB1):c.1879C>T (p.Arg627Trp)
|
rs554351105
|
0.00004
|
|
NM_004975.4(KCNB1):c.2092C>T (p.Arg698Trp)
|
rs779379680
|
0.00004
|
|
NM_004975.4(KCNB1):c.2093G>A (p.Arg698Gln)
|
rs1449919002
|
0.00004
|
|
NM_004975.4(KCNB1):c.210C>G (p.Leu70=)
|
rs1460995367
|
0.00004
|
|
NM_004975.4(KCNB1):c.2376G>A (p.Ser792=)
|
rs750105922
|
0.00004
|
|
NM_004975.4(KCNB1):c.2456C>T (p.Ala819Val)
|
rs777645076
|
0.00004
|
|
NM_004975.4(KCNB1):c.2561G>A (p.Arg854Gln)
|
rs764648709
|
0.00004
|
|
NM_004975.4(KCNB1):c.568-5C>T
|
rs185995580
|
0.00004
|
|
NM_004975.4(KCNB1):c.651C>T (p.Leu217=)
|
rs537777787
|
0.00004
|
|
NM_004975.4(KCNB1):c.840C>T (p.Thr280=)
|
rs748523037
|
0.00004
|
|
NM_005249.5(FOXG1):c.1273T>C (p.Ser425Pro)
|
rs780242359
|
0.00004
|
|
NM_005249.5(FOXG1):c.1313C>T (p.Ala438Val)
|
rs376242569
|
0.00004
|
|
NM_005249.5(FOXG1):c.165C>T (p.His55=)
|
rs796052449
|
0.00004
|
|
NM_005249.5(FOXG1):c.188C>G (p.Pro63Arg)
|
rs796052478
|
0.00004
|
|
NM_005249.5(FOXG1):c.324A>G (p.Pro108=)
|
rs750512461
|
0.00004
|
|
NM_006030.4(CACNA2D2):c.1153-17C>T
|
rs754668395
|
0.00004
|
|
NM_006030.4(CACNA2D2):c.120C>T (p.Pro40=)
|
rs907775113
|
0.00004
|
|
NM_006030.4(CACNA2D2):c.1260+7C>T
|
rs774988895
|
0.00004
|
|
NM_006030.4(CACNA2D2):c.1365C>T (p.Ile455=)
|
rs760989430
|
0.00004
|
|
NM_006030.4(CACNA2D2):c.1617C>G (p.Pro539=)
|
rs772491153
|
0.00004
|
|
NM_006030.4(CACNA2D2):c.1701+12G>A
|
rs767739198
|
0.00004
|
|
NM_006030.4(CACNA2D2):c.1908-19C>T
|
rs775565884
|
0.00004
|
|
NM_006030.4(CACNA2D2):c.2415G>A (p.Pro805=)
|
rs587642654
|
0.00004
|
|
NM_006030.4(CACNA2D2):c.246C>T (p.Asp82=)
|
rs148056009
|
0.00004
|
|
NM_006030.4(CACNA2D2):c.249C>T (p.Gly83=)
|
rs371367882
|
0.00004
|
|
NM_006030.4(CACNA2D2):c.2769C>T (p.Ser923=)
|
rs753138465
|
0.00004
|
|
NM_006030.4(CACNA2D2):c.2841T>C (p.Ala947=)
|
rs373171224
|
0.00004
|
|
NM_006030.4(CACNA2D2):c.3159G>C (p.Pro1053=)
|
rs373592672
|
0.00004
|
|
NM_006030.4(CACNA2D2):c.3225G>A (p.Gln1075=)
|
rs201966443
|
0.00004
|
|
NM_006030.4(CACNA2D2):c.3384G>A (p.Pro1128=)
|
rs1379269800
|
0.00004
|
|
NM_006030.4(CACNA2D2):c.600G>A (p.Lys200=)
|
rs752766858
|
0.00004
|
|
NM_006030.4(CACNA2D2):c.733C>T (p.Leu245=)
|
rs375779773
|
0.00004
|
|
NM_006030.4(CACNA2D2):c.784+20C>G
|
rs746907949
|
0.00004
|
|
NM_006279.5(ST3GAL3):c.166+13C>T
|
rs768368942
|
0.00004
|
|
NM_006279.5(ST3GAL3):c.462-17C>T
|
rs749798569
|
0.00004
|
|
NM_006279.5(ST3GAL3):c.516G>A (p.Lys172=)
|
rs754735171
|
0.00004
|
|
NM_006279.5(ST3GAL3):c.726C>T (p.Ile242=)
|
rs148477698
|
0.00004
|
|
NM_006279.5(ST3GAL3):c.81G>A (p.Ala27=)
|
rs201489310
|
0.00004
|
|
NM_006279.5(ST3GAL3):c.891+8A>G
|
rs910845282
|
0.00004
|
|
NM_007254.4(PNKP):c.1126+14T>G
|
rs971508207
|
0.00004
|
|
NM_007254.4(PNKP):c.1188+17G>A
|
rs545237601
|
0.00004
|
|
NM_007254.4(PNKP):c.1189-11C>T
|
rs756362768
|
0.00004
|
|
NM_007254.4(PNKP):c.1329C>T (p.Val443=)
|
rs796052846
|
0.00004
|
|
NM_007254.4(PNKP):c.1387-40_1387-39del
|
rs758626895
|
0.00004
|
|
NM_007254.4(PNKP):c.1401G>A (p.Thr467=)
|
rs374547164
|
0.00004
|
|
NM_007254.4(PNKP):c.1449-19C>A
|
rs772322533
|
0.00004
|
|
NM_007254.4(PNKP):c.199-15C>T
|
rs201254691
|
0.00004
|
|
NM_007254.4(PNKP):c.264G>T (p.Gly88=)
|
rs766589333
|
0.00004
|
|
NM_007254.4(PNKP):c.312G>A (p.Leu104=)
|
rs375257269
|
0.00004
|
|
NM_007254.4(PNKP):c.39G>A (p.Glu13=)
|
rs565350498
|
0.00004
|
|
NM_007254.4(PNKP):c.579-19C>T
|
rs368764301
|
0.00004
|
|
NM_007254.4(PNKP):c.636+13G>A
|
rs745577158
|
0.00004
|
|
NM_007254.4(PNKP):c.937-16C>T
|
rs755267515
|
0.00004
|
|
NM_014334.4(FRRS1L):c.126C>A (p.Pro42=)
|
rs1425779857
|
0.00004
|
|
NM_014334.4(FRRS1L):c.238+11G>A
|
rs553540396
|
0.00004
|
|
NM_014334.4(FRRS1L):c.294C>T (p.Asp98=)
|
rs755962433
|
0.00004
|
|
NM_015192.4(PLCB1):c.1168-16G>A
|
rs369578844
|
0.00004
|
|
NM_015192.4(PLCB1):c.1242T>C (p.His414=)
|
rs747192374
|
0.00004
|
|
NM_015192.4(PLCB1):c.138C>T (p.Asp46=)
|
rs368510730
|
0.00004
|
|
NM_015192.4(PLCB1):c.1545T>C (p.Asp515=)
|
rs201832361
|
0.00004
|
|
NM_015192.4(PLCB1):c.1764-6G>C
|
rs753832760
|
0.00004
|
|
NM_015192.4(PLCB1):c.2656+7C>T
|
rs370608944
|
0.00004
|
|
NM_015192.4(PLCB1):c.2930+8C>T
|
rs767172522
|
0.00004
|
|
NM_015192.4(PLCB1):c.2979C>T (p.Asp993=)
|
rs148394888
|
0.00004
|
|
NM_015192.4(PLCB1):c.3009A>G (p.Gln1003=)
|
rs761097244
|
0.00004
|
|
NM_015192.4(PLCB1):c.369A>G (p.Gln123=)
|
rs755560918
|
0.00004
|
|
NM_015192.4(PLCB1):c.852C>T (p.Leu284=)
|
rs147648227
|
0.00004
|
|
NM_015509.4(NECAP1):c.95+9C>T
|
rs199764142
|
0.00004
|
|
NM_016373.4(WWOX):c.1146C>T (p.Cys382=)
|
rs780939546
|
0.00004
|
|
NM_016373.4(WWOX):c.114C>T (p.Thr38=)
|
rs372635270
|
0.00004
|
|
NM_016373.4(WWOX):c.231-11C>G
|
rs372011945
|
0.00004
|
|
NM_016373.4(WWOX):c.321C>T (p.Tyr107=)
|
rs373306276
|
0.00004
|
|
NM_016373.4(WWOX):c.517-10C>G
|
rs199820033
|
0.00004
|
|
NM_016373.4(WWOX):c.605+20G>A
|
rs372217196
|
0.00004
|
|
NM_016373.4(WWOX):c.739T>C (p.Leu247=)
|
rs1195368309
|
0.00004
|
|
NM_016373.4(WWOX):c.798A>C (p.Thr266=)
|
rs377727422
|
0.00004
|
|
NM_016373.4(WWOX):c.855C>T (p.Asn285=)
|
rs767903006
|
0.00004
|
|
NM_020708.5(SLC12A5):c.1008C>T (p.Thr336=)
|
rs367965141
|
0.00004
|
|
NM_020708.5(SLC12A5):c.1237+17A>G
|
rs778108662
|
0.00004
|
|
NM_020708.5(SLC12A5):c.1416C>T (p.Gly472=)
|
rs755729176
|
0.00004
|
|
NM_020708.5(SLC12A5):c.1665C>T (p.Asp555=)
|
rs377347592
|
0.00004
|
|
NM_020708.5(SLC12A5):c.1773T>C (p.Phe591=)
|
rs567520830
|
0.00004
|
|
NM_020708.5(SLC12A5):c.1908-19T>C
|
rs1306943724
|
0.00004
|
|
NM_020708.5(SLC12A5):c.2601T>C (p.Asn867=)
|
rs374813251
|
0.00004
|
|
NM_020708.5(SLC12A5):c.3126-6C>A
|
rs372120376
|
0.00004
|
|
NM_020708.5(SLC12A5):c.3228G>A (p.Gly1076=)
|
rs767829797
|
0.00004
|
|
NM_020708.5(SLC12A5):c.372G>T (p.Val124=)
|
rs750134396
|
0.00004
|
|
NM_020708.5(SLC12A5):c.42A>G (p.Gly14=)
|
rs1464795415
|
0.00004
|
|
NM_020708.5(SLC12A5):c.699C>T (p.Tyr233=)
|
rs200570265
|
0.00004
|
|
NM_020822.3(KCNT1):c.1047C>T (p.Leu349=)
|
rs370414453
|
0.00004
|
|
NM_020822.3(KCNT1):c.1053C>T (p.Tyr351=)
|
rs973806258
|
0.00004
|
|
NM_020822.3(KCNT1):c.110+11del
|
rs1464834508
|
0.00004
|
|
NM_020822.3(KCNT1):c.110+12T>G
|
rs1186799198
|
0.00004
|
|
NM_020822.3(KCNT1):c.1119C>T (p.His373=)
|
rs1052932341
|
0.00004
|
|
NM_020822.3(KCNT1):c.1156C>T (p.Leu386Phe)
|
rs780875110
|
0.00004
|
|
NM_020822.3(KCNT1):c.1201-5G>A
|
rs766093946
|
0.00004
|
|
NM_020822.3(KCNT1):c.1368C>T (p.Leu456=)
|
rs373948466
|
0.00004
|
|
NM_020822.3(KCNT1):c.1497C>T (p.His499=)
|
rs754670800
|
0.00004
|
|
NM_020822.3(KCNT1):c.1620-14G>A
|
rs754311028
|
0.00004
|
|
NM_020822.3(KCNT1):c.1833G>A (p.Gly611=)
|
rs755787639
|
0.00004
|
|
NM_020822.3(KCNT1):c.1946C>T (p.Ser649Leu)
|
rs747671066
|
0.00004
|
|
NM_020822.3(KCNT1):c.1983C>T (p.Pro661=)
|
rs533528985
|
0.00004
|
|
NM_020822.3(KCNT1):c.1996A>T (p.Ile666Phe)
|
rs376231681
|
0.00004
|
|
NM_020822.3(KCNT1):c.2008+18C>T
|
rs370292952
|
0.00004
|
|
NM_020822.3(KCNT1):c.2008+8G>A
|
rs759334176
|
0.00004
|
|
NM_020822.3(KCNT1):c.2009-18C>T
|
rs1457591989
|
0.00004
|
|
NM_020822.3(KCNT1):c.2211G>A (p.Thr737=)
|
rs148928475
|
0.00004
|
|
NM_020822.3(KCNT1):c.2223C>T (p.Asp741=)
|
rs144118960
|
0.00004
|
|
NM_020822.3(KCNT1):c.231C>T (p.Asp77=)
|
rs370998066
|
0.00004
|
|
NM_020822.3(KCNT1):c.2388C>T (p.Tyr796=)
|
rs530678159
|
0.00004
|
|
NM_020822.3(KCNT1):c.2523-6C>T
|
rs992509278
|
0.00004
|
|
NM_020822.3(KCNT1):c.2594+17C>T
|
rs370941241
|
0.00004
|
|
NM_020822.3(KCNT1):c.2594+18G>A
|
rs374664484
|
0.00004
|
|
NM_020822.3(KCNT1):c.2594+7C>T
|
rs545094921
|
0.00004
|
|
NM_020822.3(KCNT1):c.2757G>A (p.Thr919=)
|
rs775752475
|
0.00004
|
|
NM_020822.3(KCNT1):c.2931A>G (p.Thr977=)
|
rs369519989
|
0.00004
|
|
NM_020822.3(KCNT1):c.2943+7G>A
|
rs375869783
|
0.00004
|
|
NM_020822.3(KCNT1):c.2944-18C>G
|
rs1361654206
|
0.00004
|
|
NM_020822.3(KCNT1):c.3111C>T (p.Pro1037=)
|
rs778321915
|
0.00004
|
|
NM_020822.3(KCNT1):c.3152C>T (p.Ser1051Leu)
|
rs375749415
|
0.00004
|
|
NM_020822.3(KCNT1):c.3163G>A (p.Asp1055Asn)
|
rs537379253
|
0.00004
|
|
NM_020822.3(KCNT1):c.3240C>T (p.Gly1080=)
|
rs766038759
|
0.00004
|
|
NM_020822.3(KCNT1):c.3245G>A (p.Arg1082His)
|
rs760151844
|
0.00004
|
|
NM_020822.3(KCNT1):c.3285C>T (p.Gly1095=)
|
rs778877333
|
0.00004
|
|
NM_020822.3(KCNT1):c.3289G>A (p.Gly1097Ser)
|
rs199779214
|
0.00004
|
|
NM_020822.3(KCNT1):c.3381G>A (p.Ala1127=)
|
rs762220012
|
0.00004
|
|
NM_020822.3(KCNT1):c.3384G>A (p.Ala1128=)
|
rs760868141
|
0.00004
|
|
NM_020822.3(KCNT1):c.3450C>T (p.Ser1150=)
|
rs757210594
|
0.00004
|
|
NM_020822.3(KCNT1):c.3504C>T (p.Asp1168=)
|
rs761504279
|
0.00004
|
|
NM_020822.3(KCNT1):c.3579T>A (p.Ser1193Arg)
|
rs142340167
|
0.00004
|
|
NM_020822.3(KCNT1):c.3588-4G>A
|
rs754639389
|
0.00004
|
|
NM_020822.3(KCNT1):c.601-20T>C
|
rs774722496
|
0.00004
|
|
NM_020822.3(KCNT1):c.690G>A (p.Pro230=)
|
rs565506288
|
0.00004
|
|
NM_020822.3(KCNT1):c.759+7C>T
|
rs779833209
|
0.00004
|
|
NM_020988.3(GNAO1):c.1020C>T (p.Thr340=)
|
rs765996386
|
0.00004
|
|
NM_020988.3(GNAO1):c.279C>T (p.Ile93=)
|
rs749909537
|
0.00004
|
|
NM_020988.3(GNAO1):c.386T>C (p.Met129Thr)
|
rs200539902
|
0.00004
|
|
NM_020988.3(GNAO1):c.464+19G>A
|
rs373227432
|
0.00004
|
|
NM_020988.3(GNAO1):c.870A>G (p.Glu290=)
|
rs145546431
|
0.00004
|
|
NM_021072.4(HCN1):c.1230+20G>A
|
rs780579570
|
0.00004
|
|
NM_021072.4(HCN1):c.128C>T (p.Pro43Leu)
|
rs1060500095
|
0.00004
|
|
NM_021072.4(HCN1):c.2009C>T (p.Ala670Val)
|
rs142280884
|
0.00004
|
|
NM_021072.4(HCN1):c.2321T>C (p.Leu774Pro)
|
rs149702217
|
0.00004
|
|
NM_021072.4(HCN1):c.312C>T (p.Pro104=)
|
rs750291664
|
0.00004
|
|
NM_031844.3(HNRNPU):c.1913-14T>C
|
rs560347792
|
0.00004
|
|
NM_139058.3(ARX):c.1389C>T (p.Ser463=)
|
rs760617042
|
0.00004
|
|
NM_139058.3(ARX):c.855G>A (p.Glu285=)
|
rs139301257
|
0.00004
|
|
NM_139058.3(ARX):c.921C>A (p.Gly307=)
|
rs398124519
|
0.00004
|
|
NM_139318.5(KCNH5):c.1137C>T (p.Val379=)
|
rs767226876
|
0.00004
|
|
NM_139318.5(KCNH5):c.1569+16G>A
|
rs374773556
|
0.00004
|
|
NM_139318.5(KCNH5):c.1719C>T (p.Pro573=)
|
rs374752391
|
0.00004
|
|
NM_139318.5(KCNH5):c.1887C>T (p.Asn629=)
|
rs373387419
|
0.00004
|
|
NM_139318.5(KCNH5):c.1902G>A (p.Thr634=)
|
rs200142051
|
0.00004
|
|
NM_139318.5(KCNH5):c.197+16G>A
|
rs370733252
|
0.00004
|
|
NM_139318.5(KCNH5):c.197+3A>G
|
rs199592316
|
0.00004
|
|
NM_139318.5(KCNH5):c.1992C>T (p.Leu664=)
|
rs201733636
|
0.00004
|
|
NM_139318.5(KCNH5):c.2828C>T (p.Ser943Leu)
|
rs761523326
|
0.00004
|
|
NM_139318.5(KCNH5):c.399G>A (p.Leu133=)
|
rs200038886
|
0.00004
|
|
NM_152743.4(BRAT1):c.1015+14A>G
|
rs747122971
|
0.00004
|
|
NM_152743.4(BRAT1):c.1038C>T (p.Asp346=)
|
rs139509070
|
0.00004
|
|
NM_152743.4(BRAT1):c.1050G>A (p.Thr350=)
|
rs111276768
|
0.00004
|
|
NM_152743.4(BRAT1):c.1158C>T (p.Pro386=)
|
rs561476490
|
0.00004
|
|
NM_152743.4(BRAT1):c.1396-7G>A
|
rs576174160
|
0.00004
|
|
NM_152743.4(BRAT1):c.1410C>G (p.Ala470=)
|
rs371170298
|
0.00004
|
|
NM_152743.4(BRAT1):c.1598-15C>T
|
rs779081019
|
0.00004
|
|
NM_152743.4(BRAT1):c.2166C>T (p.Leu722=)
|
rs372332387
|
0.00004
|
|
NM_152743.4(BRAT1):c.2361G>A (p.Thr787=)
|
rs757243199
|
0.00004
|
|
NM_152743.4(BRAT1):c.2376C>T (p.Ser792=)
|
rs932050999
|
0.00004
|
|
NM_152743.4(BRAT1):c.468C>T (p.Ser156=)
|
rs369784573
|
0.00004
|
|
NM_152743.4(BRAT1):c.561G>A (p.Pro187=)
|
rs377655983
|
0.00004
|
|
NM_152743.4(BRAT1):c.570C>T (p.Asp190=)
|
rs745728832
|
0.00004
|
|
NM_152743.4(BRAT1):c.909G>A (p.Leu303=)
|
rs61742752
|
0.00004
|
|
NM_152743.4(BRAT1):c.915C>G (p.Leu305=)
|
rs748023062
|
0.00004
|
|
NM_152743.4(BRAT1):c.924-8G>C
|
rs370529174
|
0.00004
|
|
NM_172107.4(KCNQ2):c.1023+19C>T
|
rs761878820
|
0.00004
|
|
NM_172107.4(KCNQ2):c.1023+9A>G
|
rs201787699
|
0.00004
|
|
NM_172107.4(KCNQ2):c.1071C>T (p.His357=)
|
rs368352571
|
0.00004
|
|
NM_172107.4(KCNQ2):c.1149-20C>T
|
rs754997316
|
0.00004
|
|
NM_172107.4(KCNQ2):c.1218-6T>C
|
rs755843563
|
0.00004
|
|
NM_172107.4(KCNQ2):c.1301+15G>A
|
rs571128290
|
0.00004
|
|
NM_172107.4(KCNQ2):c.1347C>T (p.Gly449=)
|
rs771845478
|
0.00004
|
|
NM_172107.4(KCNQ2):c.1602G>A (p.Pro534=)
|
rs775089685
|
0.00004
|
|
NM_172107.4(KCNQ2):c.1626C>T (p.Ala542=)
|
rs564614151
|
0.00004
|
|
NM_172107.4(KCNQ2):c.1704C>T (p.Ile568=)
|
rs144909985
|
0.00004
|
|
NM_172107.4(KCNQ2):c.185C>T (p.Ala62Val)
|
rs796052612
|
0.00004
|
|
NM_172107.4(KCNQ2):c.2469C>T (p.Ala823=)
|
rs758071891
|
0.00004
|
|
NM_172107.4(KCNQ2):c.627C>A (p.Ile209=)
|
rs749602639
|
0.00004
|
|
NM_172107.4(KCNQ2):c.691-14C>T
|
rs200448016
|
0.00004
|
|
NM_172107.4(KCNQ2):c.918G>A (p.Ala306=)
|
rs370777198
|
0.00004
|
|
NM_173354.5(SIK1):c.1172C>T (p.Pro391Leu)
|
rs757476600
|
0.00004
|
|
NM_173354.5(SIK1):c.1197C>T (p.Ser399=)
|
rs139566516
|
0.00004
|
|
NM_173354.5(SIK1):c.1745-20C>T
|
rs758494600
|
0.00004
|
|
NM_173354.5(SIK1):c.1856G>A (p.Arg619Gln)
|
rs372399294
|
0.00004
|
|
NM_173354.5(SIK1):c.1887C>T (p.His629=)
|
rs771569126
|
0.00004
|
|
NM_173354.5(SIK1):c.2130G>A (p.Pro710=)
|
rs1425273742
|
0.00004
|
|
NM_173354.5(SIK1):c.2305G>A (p.Glu769Lys)
|
rs754231467
|
0.00004
|
|
NM_173354.5(SIK1):c.338-13T>G
|
rs774201798
|
0.00004
|
|
NM_173354.5(SIK1):c.456C>T (p.Thr152=)
|
rs776186797
|
0.00004
|
|
NM_173354.5(SIK1):c.861C>T (p.Pro287=)
|
rs142816600
|
0.00004
|
|
NM_173728.4(ARHGEF15):c.1365C>G (p.Pro455=)
|
rs1007687701
|
0.00004
|
|
NM_173728.4(ARHGEF15):c.2034-18G>A
|
rs535168361
|
0.00004
|
|
NM_173728.4(ARHGEF15):c.540T>C (p.Asp180=)
|
rs1192731695
|
0.00004
|
|
NM_173728.4(ARHGEF15):c.768C>T (p.Ile256=)
|
rs1217153535
|
0.00004
|
|
NM_177550.5(SLC13A5):c.1156+20C>T
|
rs368150158
|
0.00004
|
|
NM_177550.5(SLC13A5):c.1437+18G>A
|
rs371350083
|
0.00004
|
|
NM_177550.5(SLC13A5):c.1560C>A (p.Leu520=)
|
rs771239934
|
0.00004
|
|
NM_177550.5(SLC13A5):c.1584A>G (p.Thr528=)
|
rs764993670
|
0.00004
|
|
NM_177550.5(SLC13A5):c.18C>T (p.Ser6=)
|
rs775174636
|
0.00004
|
|
NM_177550.5(SLC13A5):c.232-8C>T
|
rs566063560
|
0.00004
|
|
NM_177550.5(SLC13A5):c.342C>T (p.Leu114=)
|
rs774031315
|
0.00004
|
|
NM_177550.5(SLC13A5):c.489C>T (p.Ser163=)
|
rs372231184
|
0.00004
|
|
NM_177550.5(SLC13A5):c.864G>A (p.Gly288=)
|
rs910523768
|
0.00004
|
|
NM_177550.5(SLC13A5):c.945G>A (p.Ala315=)
|
rs1057522909
|
0.00004
|
|
NM_203446.3(SYNJ1):c.211+19A>G
|
rs553611765
|
0.00004
|
|
NM_203446.3(SYNJ1):c.2217C>T (p.Asn739=)
|
rs753774552
|
0.00004
|
|
NM_203446.3(SYNJ1):c.2586C>T (p.Val862=)
|
rs771973400
|
0.00004
|
|
NM_203446.3(SYNJ1):c.3248-18C>T
|
rs538157711
|
0.00004
|
|
NM_203446.3(SYNJ1):c.3261C>T (p.Asp1087=)
|
rs923667676
|
0.00004
|
|
NM_203446.3(SYNJ1):c.3392-20A>G
|
rs375300586
|
0.00004
|
|
NM_203446.3(SYNJ1):c.480-17A>C
|
rs1030947495
|
0.00004
|
|
NM_203446.3(SYNJ1):c.597G>A (p.Ala199=)
|
rs763090745
|
0.00004
|
|
NM_000330.4(RS1):c.184+3194A>G
|
rs587783162
|
0.00003
|
|
NM_000330.4(RS1):c.184+3205C>T
|
rs763292733
|
0.00003
|
|
NM_000330.4(RS1):c.184+3229G>T
|
rs1247449149
|
0.00003
|
|
NM_000834.5(GRIN2B):c.1125+5G>A
|
rs3751257
|
0.00003
|
|
NM_000834.5(GRIN2B):c.1350G>A (p.Pro450=)
|
rs200607718
|
0.00003
|
|
NM_000834.5(GRIN2B):c.144G>A (p.Val48=)
|
rs201242152
|
0.00003
|
|
NM_000834.5(GRIN2B):c.1501-13G>A
|
rs201829637
|
0.00003
|
|
NM_000834.5(GRIN2B):c.2313G>A (p.Gly771=)
|
rs150554184
|
0.00003
|
|
NM_000834.5(GRIN2B):c.2644T>G (p.Ser882Ala)
|
rs145602964
|
0.00003
|
|
NM_000834.5(GRIN2B):c.3300G>A (p.Arg1100=)
|
rs200509787
|
0.00003
|
|
NM_000834.5(GRIN2B):c.3433C>T (p.His1145Tyr)
|
rs758094582
|
0.00003
|
|
NM_000834.5(GRIN2B):c.3505G>A (p.Gly1169Arg)
|
rs777639067
|
0.00003
|
|
NM_000834.5(GRIN2B):c.3922G>A (p.Val1308Met)
|
rs374746622
|
0.00003
|
|
NM_000834.5(GRIN2B):c.3945C>T (p.Ala1315=)
|
rs200657400
|
0.00003
|
|
NM_000834.5(GRIN2B):c.4077C>T (p.Ala1359=)
|
rs375217280
|
0.00003
|
|
NM_000834.5(GRIN2B):c.51C>T (p.Ala17=)
|
rs145404836
|
0.00003
|
|
NM_000834.5(GRIN2B):c.80G>A (p.Arg27His)
|
rs200727145
|
0.00003
|
|
NM_000834.5(GRIN2B):c.834C>A (p.Ile278=)
|
rs199835162
|
0.00003
|
|
NM_000834.5(GRIN2B):c.96C>A (p.Pro32=)
|
rs374173060
|
0.00003
|
|
NM_001032221.6(STXBP1):c.1182G>A (p.Leu394=)
|
rs767697287
|
0.00003
|
|
NM_001032221.6(STXBP1):c.1287C>T (p.His429=)
|
rs200002286
|
0.00003
|
|
NM_001032221.6(STXBP1):c.1539C>T (p.Thr513=)
|
rs751251068
|
0.00003
|
|
NM_001032221.6(STXBP1):c.222G>A (p.Val74=)
|
rs778677057
|
0.00003
|
|
NM_001032221.6(STXBP1):c.30C>T (p.Val10=)
|
rs372842480
|
0.00003
|
|
NM_001032221.6(STXBP1):c.326-12T>C
|
rs372027286
|
0.00003
|
|
NM_001032221.6(STXBP1):c.417G>T (p.Pro139=)
|
rs931563377
|
0.00003
|
|
NM_001032221.6(STXBP1):c.552G>A (p.Lys184=)
|
rs759620661
|
0.00003
|
|
NM_001032221.6(STXBP1):c.660G>A (p.Gly220=)
|
rs536049754
|
0.00003
|
|
NM_001040142.2(SCN2A):c.1095G>A (p.Thr365=)
|
rs2227900
|
0.00003
|
|
NM_001040142.2(SCN2A):c.1200G>A (p.Thr400=)
|
rs532681917
|
0.00003
|
|
NM_001040142.2(SCN2A):c.132G>A (p.Glu44=)
|
rs781272663
|
0.00003
|
|
NM_001040142.2(SCN2A):c.1836C>T (p.Phe612=)
|
rs747402663
|
0.00003
|
|
NM_001040142.2(SCN2A):c.1992A>G (p.Thr664=)
|
rs368988956
|
0.00003
|
|
NM_001040142.2(SCN2A):c.2017-9T>C
|
rs1451143110
|
0.00003
|
|
NM_001040142.2(SCN2A):c.2023A>G (p.Thr675Ala)
|
rs371601218
|
0.00003
|
|
NM_001040142.2(SCN2A):c.2304C>T (p.Cys768=)
|
rs764479273
|
0.00003
|
|
NM_001040142.2(SCN2A):c.2389-17C>T
|
rs1461082035
|
0.00003
|
|
NM_001040142.2(SCN2A):c.2563-4C>A
|
rs561375550
|
0.00003
|
|
NM_001040142.2(SCN2A):c.2706C>G (p.Leu902=)
|
rs192461273
|
0.00003
|
|
NM_001040142.2(SCN2A):c.3258C>T (p.Val1086=)
|
rs760647603
|
0.00003
|
|
NM_001040142.2(SCN2A):c.3399+14A>C
|
rs376371059
|
0.00003
|
|
NM_001040142.2(SCN2A):c.3676-9G>T
|
rs767017457
|
0.00003
|
|
NM_001040142.2(SCN2A):c.4260G>T (p.Thr1420=)
|
rs138241682
|
0.00003
|
|
NM_001040142.2(SCN2A):c.5127A>G (p.Gln1709=)
|
rs938025387
|
0.00003
|
|
NM_001040142.2(SCN2A):c.5166T>C (p.Pro1722=)
|
rs760587370
|
0.00003
|
|
NM_001040142.2(SCN2A):c.5760C>T (p.Leu1920=)
|
rs1449263336
|
0.00003
|
|
NM_001040142.2(SCN2A):c.672A>T (p.Ala224=)
|
rs2228986
|
0.00003
|
|
NM_001099922.3(ALG13):c.1209C>T (p.Ser403=)
|
rs773641755
|
0.00003
|
|
NM_001099922.3(ALG13):c.1737A>G (p.Ser579=)
|
rs889996527
|
0.00003
|
|
NM_001099922.3(ALG13):c.1798A>G (p.Met600Val)
|
rs189931917
|
0.00003
|
|
NM_001099922.3(ALG13):c.1812C>T (p.Tyr604=)
|
rs768241839
|
0.00003
|
|
NM_001099922.3(ALG13):c.2004C>T (p.His668=)
|
rs1024835814
|
0.00003
|
|
NM_001099922.3(ALG13):c.2401+9G>T
|
rs1036320277
|
0.00003
|
|
NM_001099922.3(ALG13):c.2624G>C (p.Ser875Thr)
|
rs757522953
|
0.00003
|
|
NM_001099922.3(ALG13):c.2973+10A>G
|
rs1027238133
|
0.00003
|
|
NM_001099922.3(ALG13):c.303C>T (p.Asn101=)
|
rs763113044
|
0.00003
|
|
NM_001099922.3(ALG13):c.3174A>G (p.Ser1058=)
|
rs369901028
|
0.00003
|
|
NM_001099922.3(ALG13):c.819A>G (p.Gln273=)
|
rs774384951
|
0.00003
|
|
NM_001099922.3(ALG13):c.927T>A (p.Ile309=)
|
rs1939944337
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.1191A>G (p.Ser397=)
|
rs781149861
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.1369A>G (p.Ile457Val)
|
rs774203605
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.1442G>A (p.Arg481His)
|
rs763944721
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.1534G>A (p.Glu512Lys)
|
rs375210532
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.159G>T (p.Ala53=)
|
rs767892925
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.198C>T (p.Pro66=)
|
rs774731482
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.1990C>T (p.Leu664=)
|
rs1246140836
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.1998C>T (p.Gly666=)
|
rs373695561
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.2028G>A (p.Gly676=)
|
rs369129616
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.2259G>A (p.Ala753=)
|
rs765929251
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.2400C>G (p.Asp800Glu)
|
rs376074188
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.2487G>A (p.Glu829=)
|
rs755434242
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.2765G>T (p.Arg922Leu)
|
rs752824390
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.2804G>A (p.Arg935Gln)
|
rs768048563
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.2879C>T (p.Ala960Val)
|
rs762396014
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.2895G>C (p.Gly965=)
|
rs1057522107
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.3017G>C (p.Arg1006Pro)
|
rs1268938831
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.3090-6C>T
|
rs758040795
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.3105C>T (p.Ser1035=)
|
rs768168157
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.3119C>T (p.Ser1040Leu)
|
rs776628272
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.3210C>T (p.Asn1070=)
|
rs369927027
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.3365G>A (p.Arg1122His)
|
rs201647627
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.3372G>A (p.Thr1124=)
|
rs770311284
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.3483G>A (p.Arg1161=)
|
rs772768681
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.3490G>A (p.Asp1164Asn)
|
rs775838621
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.3933C>G (p.Leu1311=)
|
rs372081879
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.4470C>T (p.Tyr1490=)
|
rs1353710115
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.4626G>A (p.Pro1542=)
|
rs768317498
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.4951-14C>T
|
rs1019678447
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.5421C>T (p.Ala1807=)
|
rs372359926
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.5493C>T (p.Tyr1831=)
|
rs777510892
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.549G>A (p.Ala183=)
|
rs16004
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.5528+1273T>C
|
rs371000214
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.5810C>T (p.Thr1937Met)
|
rs771104002
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.5853C>T (p.Thr1951=)
|
rs534218994
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.5898G>A (p.Arg1966=)
|
rs370834253
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.5940+5G>A
|
rs780060495
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.6051-4G>A
|
rs1199529097
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.6125C>T (p.Thr2042Met)
|
rs563345694
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.6130A>G (p.Thr2044Ala)
|
rs566781445
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.6192C>T (p.Ser2064=)
|
rs974692135
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.6317G>A (p.Arg2106Gln)
|
rs373229577
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.6340-19G>A
|
rs916904971
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.6398G>A (p.Arg2133Gln)
|
rs779044548
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.642C>T (p.Val214=)
|
rs1336839525
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.6448C>T (p.Arg2150Trp)
|
rs756780624
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.654G>A (p.Ser218=)
|
rs201991581
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.6624A>C (p.Arg2208=)
|
rs556858383
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.6665C>T (p.Pro2222Leu)
|
rs1336146310
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.6699G>A (p.Pro2233=)
|
rs1312330476
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.6722G>A (p.Arg2241Gln)
|
rs773057074
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.6780+8C>T
|
rs774169958
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.6780+9G>A
|
rs763812565
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.699A>G (p.Leu233=)
|
rs749587119
|
0.00003
|
|
NM_001130438.3(SPTAN1):c.1215G>A (p.Glu405=)
|
rs750970364
|
0.00003
|
|
NM_001130438.3(SPTAN1):c.1418A>G (p.Tyr473Cys)
|
rs200948972
|
0.00003
|
|
NM_001130438.3(SPTAN1):c.1462-10C>T
|
rs1469011739
|
0.00003
|
|
NM_001130438.3(SPTAN1):c.1962T>C (p.Asn654=)
|
rs748193081
|
0.00003
|
|
NM_001130438.3(SPTAN1):c.2117A>G (p.Tyr706Cys)
|
rs1473149290
|
0.00003
|
|
NM_001130438.3(SPTAN1):c.2201T>C (p.Ile734Thr)
|
rs1214164128
|
0.00003
|
|
NM_001130438.3(SPTAN1):c.2548A>C (p.Met850Leu)
|
rs371776794
|
0.00003
|
|
NM_001130438.3(SPTAN1):c.2778+8G>C
|
rs375037363
|
0.00003
|
|
NM_001130438.3(SPTAN1):c.3156-10C>T
|
rs745910160
|
0.00003
|
|
NM_001130438.3(SPTAN1):c.3216-19C>A
|
rs368814792
|
0.00003
|
|
NM_001130438.3(SPTAN1):c.363+18G>A
|
rs376019489
|
0.00003
|
|
NM_001130438.3(SPTAN1):c.4479G>A (p.Ala1493=)
|
rs201716851
|
0.00003
|
|
NM_001130438.3(SPTAN1):c.4905+7C>T
|
rs752304112
|
0.00003
|
|
NM_001130438.3(SPTAN1):c.4906-15C>T
|
rs756241253
|
0.00003
|
|
NM_001130438.3(SPTAN1):c.5064C>T (p.Ser1688=)
|
rs1046339532
|
0.00003
|
|
NM_001130438.3(SPTAN1):c.5205C>T (p.Phe1735=)
|
rs757734927
|
0.00003
|
|
NM_001130438.3(SPTAN1):c.5469G>A (p.Pro1823=)
|
rs142234188
|
0.00003
|
|
NM_001130438.3(SPTAN1):c.5553G>A (p.Ala1851=)
|
rs759088264
|
0.00003
|
|
NM_001130438.3(SPTAN1):c.5700C>T (p.Ser1900=)
|
rs779393161
|
0.00003
|
|
NM_001130438.3(SPTAN1):c.6151G>A (p.Ala2051Thr)
|
rs777950008
|
0.00003
|
|
NM_001130438.3(SPTAN1):c.6499G>A (p.Val2167Ile)
|
rs371095095
|
0.00003
|
|
NM_001130438.3(SPTAN1):c.651+13G>A
|
rs200409897
|
0.00003
|
|
NM_001130438.3(SPTAN1):c.6689+10C>T
|
rs769263723
|
0.00003
|
|
NM_001130438.3(SPTAN1):c.6689+20G>A
|
rs768065593
|
0.00003
|
|
NM_001130438.3(SPTAN1):c.6707+10G>C
|
rs374760508
|
0.00003
|
|
NM_001130438.3(SPTAN1):c.6762+10C>T
|
rs367706466
|
0.00003
|
|
NM_001130438.3(SPTAN1):c.6810C>T (p.Ile2270=)
|
rs558449802
|
0.00003
|
|
NM_001130438.3(SPTAN1):c.6864G>A (p.Thr2288=)
|
rs577730526
|
0.00003
|
|
NM_001130438.3(SPTAN1):c.6959+15T>C
|
rs776795375
|
0.00003
|
|
NM_001130438.3(SPTAN1):c.6959+7G>A
|
rs373990901
|
0.00003
|
|
NM_001130438.3(SPTAN1):c.7014-16C>T
|
rs137913528
|
0.00003
|
|
NM_001130438.3(SPTAN1):c.7128C>T (p.Phe2376=)
|
rs369792563
|
0.00003
|
|
NM_001130438.3(SPTAN1):c.7302C>T (p.Leu2434=)
|
rs758405090
|
0.00003
|
|
NM_001130438.3(SPTAN1):c.7395C>T (p.Phe2465=)
|
rs752878085
|
0.00003
|
|
NM_001165963.4(SCN1A):c.1029-11C>G
|
rs561758475
|
0.00003
|
|
NM_001165963.4(SCN1A):c.1065T>C (p.Gly355=)
|
rs757535449
|
0.00003
|
|
NM_001165963.4(SCN1A):c.135C>G (p.Asp45Glu)
|
rs201985242
|
0.00003
|
|
NM_001165963.4(SCN1A):c.1388C>T (p.Thr463Met)
|
rs752591998
|
0.00003
|
|
NM_001165963.4(SCN1A):c.144C>T (p.Gly48=)
|
rs886043534
|
0.00003
|
|
NM_001165963.4(SCN1A):c.1663-17C>T
|
rs753105591
|
0.00003
|
|
NM_001165963.4(SCN1A):c.1888C>T (p.Arg630Trp)
|
rs565855062
|
0.00003
|
|
NM_001165963.4(SCN1A):c.2658C>T (p.Ser886=)
|
rs776714907
|
0.00003
|
|
NM_001165963.4(SCN1A):c.3039A>G (p.Gln1013=)
|
rs780391343
|
0.00003
|
|
NM_001165963.4(SCN1A):c.3387G>A (p.Thr1129=)
|
rs375953445
|
0.00003
|
|
NM_001165963.4(SCN1A):c.3584A>G (p.Asn1195Ser)
|
rs754010186
|
0.00003
|
|
NM_001165963.4(SCN1A):c.3752T>C (p.Met1251Thr)
|
rs749638533
|
0.00003
|
|
NM_001165963.4(SCN1A):c.4162G>A (p.Glu1388Lys)
|
rs775820803
|
0.00003
|
|
NM_001165963.4(SCN1A):c.4209T>C (p.Asn1403=)
|
rs1176622466
|
0.00003
|
|
NM_001165963.4(SCN1A):c.4339-12C>G
|
rs776548109
|
0.00003
|
|
NM_001165963.4(SCN1A):c.4547C>T (p.Ser1516Leu)
|
rs139300715
|
0.00003
|
|
NM_001165963.4(SCN1A):c.4582-12A>G
|
rs752455718
|
0.00003
|
|
NM_001165963.4(SCN1A):c.4834G>A (p.Val1612Ile)
|
rs121918808
|
0.00003
|
|
NM_001165963.4(SCN1A):c.5349G>A (p.Ala1783=)
|
rs369500022
|
0.00003
|
|
NM_001165963.4(SCN1A):c.5655A>C (p.Leu1885=)
|
rs746651472
|
0.00003
|
|
NM_001165963.4(SCN1A):c.5763T>C (p.Ile1921=)
|
rs767698089
|
0.00003
|
|
NM_001165963.4(SCN1A):c.5988A>C (p.Lys1996Asn)
|
rs371243629
|
0.00003
|
|
NM_001165963.4(SCN1A):c.638C>T (p.Ser213Leu)
|
rs754661378
|
0.00003
|
|
NM_001165963.4(SCN1A):c.717C>G (p.Ala239=)
|
rs759923734
|
0.00003
|
|
NM_001165963.4(SCN1A):c.890C>T (p.Thr297Ile)
|
rs121918771
|
0.00003
|
|
NM_001165963.4(SCN1A):c.965-20G>A
|
rs369517865
|
0.00003
|
|
NM_001184880.2(PCDH19):c.1548C>T (p.Tyr516=)
|
rs587784295
|
0.00003
|
|
NM_001184880.2(PCDH19):c.2849-13T>C
|
rs758872425
|
0.00003
|
|
NM_001184880.2(PCDH19):c.3354C>T (p.Ser1118=)
|
rs753986660
|
0.00003
|
|
NM_001184880.2(PCDH19):c.51G>A (p.Thr17=)
|
rs756958731
|
0.00003
|
|
NM_001184880.2(PCDH19):c.543C>A (p.Arg181=)
|
rs780266148
|
0.00003
|
|
NM_001184880.2(PCDH19):c.631C>T (p.Leu211=)
|
rs771523465
|
0.00003
|
|
NM_001184880.2(PCDH19):c.846C>T (p.Asn282=)
|
rs750813033
|
0.00003
|
|
NM_001191061.2(SLC25A22):c.15G>A (p.Gln5=)
|
rs370880055
|
0.00003
|
|
NM_001191061.2(SLC25A22):c.20+7C>T
|
rs376421164
|
0.00003
|
|
NM_001191061.2(SLC25A22):c.294-14C>T
|
rs200362178
|
0.00003
|
|
NM_001191061.2(SLC25A22):c.45C>T (p.Gly15=)
|
rs748378875
|
0.00003
|
|
NM_001191061.2(SLC25A22):c.474C>T (p.Pro158=)
|
rs556959164
|
0.00003
|
|
NM_001191061.2(SLC25A22):c.525C>T (p.Arg175=)
|
rs368124957
|
0.00003
|
|
NM_001191061.2(SLC25A22):c.654G>A (p.Ala218=)
|
rs769899113
|
0.00003
|
|
NM_001191061.2(SLC25A22):c.708G>A (p.Gly236=)
|
rs1246435430
|
0.00003
|
|
NM_001191061.2(SLC25A22):c.743-15G>A
|
rs780768183
|
0.00003
|
|
NM_001191061.2(SLC25A22):c.873C>T (p.Arg291=)
|
rs1060502506
|
0.00003
|
|
NM_001191061.2(SLC25A22):c.903C>T (p.Ile301=)
|
rs564026448
|
0.00003
|
|
NM_001191061.2(SLC25A22):c.909G>A (p.Gln303=)
|
rs756957992
|
0.00003
|
|
NM_001191061.2(SLC25A22):c.922C>T (p.Leu308=)
|
rs758596118
|
0.00003
|
|
NM_001191061.2(SLC25A22):c.933G>A (p.Ala311=)
|
rs587781170
|
0.00003
|
|
NM_001199107.2(TBC1D24):c.1410C>T (p.Ser470=)
|
rs553497128
|
0.00003
|
|
NM_001199107.2(TBC1D24):c.1482C>G (p.Thr494=)
|
rs373862230
|
0.00003
|
|
NM_001199107.2(TBC1D24):c.1526-13G>A
|
rs766052989
|
0.00003
|
|
NM_001199107.2(TBC1D24):c.210C>T (p.Asp70=)
|
rs373872223
|
0.00003
|
|
NM_001199107.2(TBC1D24):c.225C>T (p.Ser75=)
|
rs201220026
|
0.00003
|
|
NM_001199107.2(TBC1D24):c.279C>T (p.Pro93=)
|
rs1021608042
|
0.00003
|
|
NM_001199107.2(TBC1D24):c.344G>A (p.Arg115His)
|
rs201174513
|
0.00003
|
|
NM_001199107.2(TBC1D24):c.519C>T (p.Phe173=)
|
rs763534843
|
0.00003
|
|
NM_001199107.2(TBC1D24):c.786G>A (p.Ser262=)
|
rs371064617
|
0.00003
|
|
NM_001199107.2(TBC1D24):c.813G>A (p.Thr271=)
|
rs527719763
|
0.00003
|
|
NM_001199107.2(TBC1D24):c.90T>C (p.Thr30=)
|
rs575173753
|
0.00003
|
|
NM_001199107.2(TBC1D24):c.951C>T (p.Thr317=)
|
rs766745103
|
0.00003
|
|
NM_001199107.2(TBC1D24):c.965+10C>T
|
rs756687194
|
0.00003
|
|
NM_001199107.2(TBC1D24):c.984-5C>G
|
rs535021783
|
0.00003
|
|
NM_001271.4(CHD2):c.1155T>A (p.Ala385=)
|
rs374640261
|
0.00003
|
|
NM_001271.4(CHD2):c.1199-11A>G
|
rs1236615732
|
0.00003
|
|
NM_001271.4(CHD2):c.1596G>A (p.Leu532=)
|
rs996584370
|
0.00003
|
|
NM_001271.4(CHD2):c.1680C>T (p.Asn560=)
|
rs368985360
|
0.00003
|
|
NM_001271.4(CHD2):c.1773A>G (p.Ala591=)
|
rs370425217
|
0.00003
|
|
NM_001271.4(CHD2):c.192G>A (p.Ser64=)
|
rs143614581
|
0.00003
|
|
NM_001271.4(CHD2):c.1938G>A (p.Gly646=)
|
rs985145180
|
0.00003
|
|
NM_001271.4(CHD2):c.2769G>A (p.Glu923=)
|
rs755268343
|
0.00003
|
|
NM_001271.4(CHD2):c.2850C>A (p.Ile950=)
|
rs780916645
|
0.00003
|
|
NM_001271.4(CHD2):c.3067-19A>G
|
rs749337105
|
0.00003
|
|
NM_001271.4(CHD2):c.3322T>A (p.Ser1108Thr)
|
rs750356605
|
0.00003
|
|
NM_001271.4(CHD2):c.3366T>C (p.Ser1122=)
|
rs781574098
|
0.00003
|
|
NM_001271.4(CHD2):c.3413+7G>T
|
rs892847874
|
0.00003
|
|
NM_001271.4(CHD2):c.3596-15A>T
|
rs376417647
|
0.00003
|
|
NM_001271.4(CHD2):c.4029G>A (p.Lys1343=)
|
rs200781322
|
0.00003
|
|
NM_001271.4(CHD2):c.4036G>T (p.Val1346Leu)
|
rs200178864
|
0.00003
|
|
NM_001271.4(CHD2):c.4231_4233del (p.Lys1411del)
|
rs746694647
|
0.00003
|
|
NM_001271.4(CHD2):c.4242C>T (p.Asp1414=)
|
rs771971989
|
0.00003
|
|
NM_001271.4(CHD2):c.4434C>G (p.Pro1478=)
|
rs199572989
|
0.00003
|
|
NM_001271.4(CHD2):c.4584C>G (p.Leu1528=)
|
rs543526502
|
0.00003
|
|
NM_001271.4(CHD2):c.585G>A (p.Pro195=)
|
rs371325259
|
0.00003
|
|
NM_001271.4(CHD2):c.596G>A (p.Arg199His)
|
rs367550855
|
0.00003
|
|
NM_001271.4(CHD2):c.62+19C>A
|
rs748026656
|
0.00003
|
|
NM_001271.4(CHD2):c.827-12A>C
|
rs759241973
|
0.00003
|
|
NM_001271.4(CHD2):c.881G>T (p.Gly294Val)
|
rs771390521
|
0.00003
|
|
NM_001323289.2(CDKL5):c.1071C>T (p.Asp357=)
|
rs144204039
|
0.00003
|
|
NM_001323289.2(CDKL5):c.1614G>A (p.Thr538=)
|
rs147300538
|
0.00003
|
|
NM_001323289.2(CDKL5):c.1730T>C (p.Met577Thr)
|
rs749822712
|
0.00003
|
|
NM_001323289.2(CDKL5):c.2046+9C>T
|
rs1215810014
|
0.00003
|
|
NM_001323289.2(CDKL5):c.2067A>G (p.Pro689=)
|
rs774307489
|
0.00003
|
|
NM_001323289.2(CDKL5):c.2086G>A (p.Ala696Thr)
|
rs374518046
|
0.00003
|
|
NM_001323289.2(CDKL5):c.2546C>T (p.Ser849Leu)
|
rs1064795982
|
0.00003
|
|
NM_001323289.2(CDKL5):c.554+19A>G
|
rs911879541
|
0.00003
|
|
NM_001323289.2(CDKL5):c.724C>A (p.Pro242Thr)
|
rs1161142799
|
0.00003
|
|
NM_001323289.2(CDKL5):c.909G>A (p.Leu303=)
|
rs1159901195
|
0.00003
|
|
NM_001330260.2(SCN8A):c.1173C>T (p.Phe391=)
|
rs886049582
|
0.00003
|
|
NM_001330260.2(SCN8A):c.1475G>A (p.Arg492His)
|
rs750170064
|
0.00003
|
|
NM_001330260.2(SCN8A):c.1545G>T (p.Val515=)
|
rs779561924
|
0.00003
|
|
NM_001330260.2(SCN8A):c.1737C>G (p.Ser579=)
|
rs770853019
|
0.00003
|
|
NM_001330260.2(SCN8A):c.1770G>A (p.Thr590=)
|
rs773379793
|
0.00003
|
|
NM_001330260.2(SCN8A):c.195G>A (p.Leu65=)
|
rs748136961
|
0.00003
|
|
NM_001330260.2(SCN8A):c.1998+10G>C
|
rs755729617
|
0.00003
|
|
NM_001330260.2(SCN8A):c.2628C>G (p.Gly876=)
|
rs1466016560
|
0.00003
|
|
NM_001330260.2(SCN8A):c.3272A>G (p.Asn1091Ser)
|
rs558738676
|
0.00003
|
|
NM_001330260.2(SCN8A):c.3373-13C>T
|
rs750470187
|
0.00003
|
|
NM_001330260.2(SCN8A):c.4446C>T (p.Thr1482=)
|
rs374059983
|
0.00003
|
|
NM_001330260.2(SCN8A):c.4725G>A (p.Ala1575=)
|
rs756326813
|
0.00003
|
|
NM_001330260.2(SCN8A):c.4770C>T (p.Phe1590=)
|
rs368421269
|
0.00003
|
|
NM_001330260.2(SCN8A):c.485+18G>A
|
rs369368623
|
0.00003
|
|
NM_001330260.2(SCN8A):c.491C>T (p.Thr164Met)
|
rs775272996
|
0.00003
|
|
NM_001330260.2(SCN8A):c.5007G>C (p.Gly1669=)
|
rs371439977
|
0.00003
|
|
NM_001330260.2(SCN8A):c.5271C>T (p.Val1757=)
|
rs752174650
|
0.00003
|
|
NM_001330260.2(SCN8A):c.549C>T (p.Cys183=)
|
rs767336706
|
0.00003
|
|
NM_001330260.2(SCN8A):c.5506A>G (p.Met1836Val)
|
rs202187894
|
0.00003
|
|
NM_001330260.2(SCN8A):c.5580G>A (p.Gly1860=)
|
rs201484402
|
0.00003
|
|
NM_001330723.2(SNX27):c.231G>A (p.Pro77=)
|
rs760263726
|
0.00003
|
|
NM_001330723.2(SNX27):c.240T>C (p.His80=)
|
rs533724049
|
0.00003
|
|
NM_001330723.2(SNX27):c.447G>A (p.Ser149=)
|
rs764587770
|
0.00003
|
|
NM_001330723.2(SNX27):c.621G>A (p.Leu207=)
|
rs754801297
|
0.00003
|
|
NM_001353921.2(ARHGEF9):c.1017C>T (p.Tyr339=)
|
rs782314375
|
0.00003
|
|
NM_001353921.2(ARHGEF9):c.1490A>G (p.Gln497Arg)
|
rs371200226
|
0.00003
|
|
NM_001353921.2(ARHGEF9):c.583-18T>G
|
rs1057521815
|
0.00003
|
|
NM_001353921.2(ARHGEF9):c.732T>A (p.Gly244=)
|
rs1322872780
|
0.00003
|
|
NM_001353921.2(ARHGEF9):c.924G>A (p.Gln308=)
|
rs1556358973
|
0.00003
|
|
NM_001367561.1(DOCK7):c.1116+12T>C
|
rs761516952
|
0.00003
|
|
NM_001367561.1(DOCK7):c.1426-14A>G
|
rs761217792
|
0.00003
|
|
NM_001367561.1(DOCK7):c.2250C>T (p.His750=)
|
rs201252647
|
0.00003
|
|
NM_001367561.1(DOCK7):c.2760G>C (p.Gly920=)
|
rs139010379
|
0.00003
|
|
NM_001367561.1(DOCK7):c.2892G>A (p.Ser964=)
|
rs1201431375
|
0.00003
|
|
NM_001367561.1(DOCK7):c.3046-11C>A
|
rs761966781
|
0.00003
|
|
NM_001367561.1(DOCK7):c.3522T>C (p.Phe1174=)
|
rs753000635
|
0.00003
|
|
NM_001367561.1(DOCK7):c.38+10C>G
|
rs1309604372
|
0.00003
|
|
NM_001367561.1(DOCK7):c.3951C>T (p.His1317=)
|
rs1292586784
|
0.00003
|
|
NM_001367561.1(DOCK7):c.4120-7A>G
|
rs563656103
|
0.00003
|
|
NM_001367561.1(DOCK7):c.4266A>G (p.Thr1422=)
|
rs753272553
|
0.00003
|
|
NM_001367561.1(DOCK7):c.4269A>G (p.Ile1423Met)
|
rs148073731
|
0.00003
|
|
NM_001367561.1(DOCK7):c.450A>G (p.Gln150=)
|
rs771961808
|
0.00003
|
|
NM_001367561.1(DOCK7):c.4801C>T (p.Leu1601=)
|
rs1379132589
|
0.00003
|
|
NM_001367561.1(DOCK7):c.6394C>A (p.Arg2132=)
|
rs756798144
|
0.00003
|
|
NM_001367561.1(DOCK7):c.72C>T (p.Ser24=)
|
rs369563931
|
0.00003
|
|
NM_001367561.1(DOCK7):c.813A>G (p.Ser271=)
|
rs770538967
|
0.00003
|
|
NM_001367561.1(DOCK7):c.96A>G (p.Gln32=)
|
rs754808562
|
0.00003
|
|
NM_001958.5(EEF1A2):c.1092C>T (p.His364=)
|
rs1455059454
|
0.00003
|
|
NM_001958.5(EEF1A2):c.1269C>T (p.Arg423=)
|
rs900643414
|
0.00003
|
|
NM_001958.5(EEF1A2):c.1281C>T (p.Arg427=)
|
rs776988182
|
0.00003
|
|
NM_001958.5(EEF1A2):c.180G>C (p.Leu60=)
|
rs760484799
|
0.00003
|
|
NM_001958.5(EEF1A2):c.288C>T (p.Arg96=)
|
rs368043002
|
0.00003
|
|
NM_001958.5(EEF1A2):c.39C>T (p.Ile13=)
|
rs762508675
|
0.00003
|
|
NM_001958.5(EEF1A2):c.504C>T (p.Asp168=)
|
rs757395064
|
0.00003
|
|
NM_001958.5(EEF1A2):c.543C>T (p.Ile181=)
|
rs1057115359
|
0.00003
|
|
NM_001958.5(EEF1A2):c.621+18C>T
|
rs555535397
|
0.00003
|
|
NM_001958.5(EEF1A2):c.717G>A (p.Thr239=)
|
rs1355719317
|
0.00003
|
|
NM_001958.5(EEF1A2):c.772+12C>T
|
rs754595612
|
0.00003
|
|
NM_001958.5(EEF1A2):c.921C>T (p.Asn307=)
|
rs1057522085
|
0.00003
|
|
NM_001958.5(EEF1A2):c.924C>T (p.Val308=)
|
rs779912733
|
0.00003
|
|
NM_001958.5(EEF1A2):c.93C>T (p.Cys31=)
|
rs747910289
|
0.00003
|
|
NM_002641.4(PIGA):c.1381C>T (p.Arg461Trp)
|
rs752798208
|
0.00003
|
|
NM_002641.4(PIGA):c.1422G>A (p.Gly474=)
|
rs1381482858
|
0.00003
|
|
NM_002641.4(PIGA):c.924C>T (p.Thr308=)
|
rs144162396
|
0.00003
|
|
NM_004408.4(DNM1):c.1176C>T (p.Ile392=)
|
rs760314213
|
0.00003
|
|
NM_004408.4(DNM1):c.1197-16C>T
|
rs769415906
|
0.00003
|
|
NM_004408.4(DNM1):c.1335+16G>A
|
rs768442528
|
0.00003
|
|
NM_004408.4(DNM1):c.1390A>G (p.Ile464Val)
|
rs992608425
|
0.00003
|
|
NM_004408.4(DNM1):c.1558-16C>T
|
rs768903530
|
0.00003
|
|
NM_004408.4(DNM1):c.1568A>G (p.Lys523Arg)
|
rs760956595
|
0.00003
|
|
NM_004408.4(DNM1):c.1672-15T>C
|
rs1184633809
|
0.00003
|
|
NM_004408.4(DNM1):c.1722C>T (p.Asp574=)
|
rs1404706727
|
0.00003
|
|
NM_004408.4(DNM1):c.1893+9C>A
|
rs769121301
|
0.00003
|
|
NM_004408.4(DNM1):c.1906-20C>T
|
rs1284100485
|
0.00003
|
|
NM_004408.4(DNM1):c.1917C>T (p.Thr639=)
|
rs528464319
|
0.00003
|
|
NM_004408.4(DNM1):c.2322G>T (p.Ser774=)
|
rs566718787
|
0.00003
|
|
NM_004408.4(DNM1):c.2427G>T (p.Leu809=)
|
rs897409469
|
0.00003
|
|
NM_004408.4(DNM1):c.387G>A (p.Val129=)
|
rs758325864
|
0.00003
|
|
NM_004408.4(DNM1):c.678C>G (p.Pro226=)
|
rs150094408
|
0.00003
|
|
NM_004974.4(KCNA2):c.1215G>A (p.Pro405=)
|
rs368489072
|
0.00003
|
|
NM_004974.4(KCNA2):c.363A>G (p.Glu121=)
|
rs747745503
|
0.00003
|
|
NM_004975.4(KCNB1):c.168G>T (p.Arg56=)
|
rs780529809
|
0.00003
|
|
NM_004975.4(KCNB1):c.2116G>A (p.Ala706Thr)
|
rs779750227
|
0.00003
|
|
NM_004975.4(KCNB1):c.598G>A (p.Val200Ile)
|
rs748573940
|
0.00003
|
|
NM_005249.5(FOXG1):c.1011C>T (p.His337=)
|
rs1419674319
|
0.00003
|
|
NM_005249.5(FOXG1):c.1104C>A (p.Val368=)
|
rs780806885
|
0.00003
|
|
NM_005249.5(FOXG1):c.1146C>T (p.Ala382=)
|
rs772266402
|
0.00003
|
|
NM_005249.5(FOXG1):c.1218C>G (p.Ser406=)
|
rs587783628
|
0.00003
|
|
NM_005249.5(FOXG1):c.1311G>A (p.Arg437=)
|
rs776918484
|
0.00003
|
|
NM_005249.5(FOXG1):c.601C>A (p.Arg201=)
|
rs745486814
|
0.00003
|
|
NM_006030.4(CACNA2D2):c.1261-9C>A
|
rs1399637742
|
0.00003
|
|
NM_006030.4(CACNA2D2):c.1281C>G (p.Ser427=)
|
rs150534078
|
0.00003
|
|
NM_006030.4(CACNA2D2):c.1479+16A>G
|
rs1316006148
|
0.00003
|
|
NM_006030.4(CACNA2D2):c.1552-7C>T
|
rs767292142
|
0.00003
|
|
NM_006030.4(CACNA2D2):c.1702-8T>A
|
rs202196387
|
0.00003
|
|
NM_006030.4(CACNA2D2):c.2045+9C>T
|
rs781061359
|
0.00003
|
|
NM_006030.4(CACNA2D2):c.2424G>A (p.Leu808=)
|
rs1326470378
|
0.00003
|
|
NM_006030.4(CACNA2D2):c.2637+9_2637+10dup
|
rs748948707
|
0.00003
|
|
NM_006030.4(CACNA2D2):c.2710-5C>G
|
rs779228458
|
0.00003
|
|
NM_006030.4(CACNA2D2):c.2862+14G>A
|
rs764792607
|
0.00003
|
|
NM_006030.4(CACNA2D2):c.2916-6C>G
|
rs587715324
|
0.00003
|
|
NM_006030.4(CACNA2D2):c.312G>A (p.Leu104=)
|
rs373316010
|
0.00003
|
|
NM_006030.4(CACNA2D2):c.3209-6G>A
|
rs370983531
|
0.00003
|
|
NM_006030.4(CACNA2D2):c.3292-10C>T
|
rs766363334
|
0.00003
|
|
NM_006030.4(CACNA2D2):c.576C>T (p.Ile192=)
|
rs753595795
|
0.00003
|
|
NM_006030.4(CACNA2D2):c.653-12G>A
|
rs370885012
|
0.00003
|
|
NM_006030.4(CACNA2D2):c.843-20C>T
|
rs369335153
|
0.00003
|
|
NM_006030.4(CACNA2D2):c.861G>C (p.Ser287=)
|
rs771844125
|
0.00003
|
|
NM_006279.5(ST3GAL3):c.543T>C (p.Tyr181=)
|
rs923119659
|
0.00003
|
|
NM_006279.5(ST3GAL3):c.711G>A (p.Lys237=)
|
rs763616499
|
0.00003
|
|
NM_007254.4(PNKP):c.1020C>T (p.Ala340=)
|
rs745968911
|
0.00003
|
|
NM_007254.4(PNKP):c.1029+20G>T
|
rs1239545577
|
0.00003
|
|
NM_007254.4(PNKP):c.1030-9C>T
|
rs368699840
|
0.00003
|
|
NM_007254.4(PNKP):c.1191C>T (p.Asp397=)
|
rs376011384
|
0.00003
|
|
NM_007254.4(PNKP):c.1302C>T (p.Tyr434=)
|
rs747244348
|
0.00003
|
|
NM_007254.4(PNKP):c.1386+19G>T
|
rs1057523595
|
0.00003
|
|
NM_007254.4(PNKP):c.1482C>T (p.Gly494=)
|
rs60279874
|
0.00003
|
|
NM_007254.4(PNKP):c.1513C>T (p.Leu505=)
|
rs201661864
|
0.00003
|
|
NM_007254.4(PNKP):c.327C>G (p.Thr109=)
|
rs749579842
|
0.00003
|
|
NM_007254.4(PNKP):c.366C>T (p.Thr122=)
|
rs145274731
|
0.00003
|
|
NM_007254.4(PNKP):c.403C>T (p.Leu135=)
|
rs766739774
|
0.00003
|
|
NM_007254.4(PNKP):c.789G>A (p.Thr263=)
|
rs768661843
|
0.00003
|
|
NM_007254.4(PNKP):c.817-12C>T
|
rs369567366
|
0.00003
|
|
NM_007254.4(PNKP):c.834C>T (p.Pro278=)
|
rs372595462
|
0.00003
|
|
NM_014334.4(FRRS1L):c.-94T>A
|
rs764458795
|
0.00003
|
|
NM_015192.4(PLCB1):c.1167+10A>G
|
rs745755417
|
0.00003
|
|
NM_015192.4(PLCB1):c.1296T>C (p.Phe432=)
|
rs781444977
|
0.00003
|
|
NM_015192.4(PLCB1):c.1336-5A>G
|
rs752723995
|
0.00003
|
|
NM_015192.4(PLCB1):c.1763+9G>T
|
rs765638834
|
0.00003
|
|
NM_015192.4(PLCB1):c.2328A>G (p.Leu776=)
|
rs145778961
|
0.00003
|
|
NM_015192.4(PLCB1):c.2742G>A (p.Lys914=)
|
rs776762609
|
0.00003
|
|
NM_015192.4(PLCB1):c.345C>T (p.Ser115=)
|
rs756143193
|
0.00003
|
|
NM_015192.4(PLCB1):c.54G>A (p.Val18=)
|
rs762431785
|
0.00003
|
|
NM_015192.4(PLCB1):c.660C>T (p.Cys220=)
|
rs184317533
|
0.00003
|
|
NM_015192.4(PLCB1):c.78C>A (p.Thr26=)
|
rs553711213
|
0.00003
|
|
NM_015192.4(PLCB1):c.99+14C>T
|
rs370355249
|
0.00003
|
|
NM_015192.4(PLCB1):c.99+15G>A
|
rs372562880
|
0.00003
|
|
NM_015509.4(NECAP1):c.492+7A>G
|
rs1449501710
|
0.00003
|
|
NM_015509.4(NECAP1):c.804G>A (p.Gln268=)
|
rs112884329
|
0.00003
|
|
NM_016373.4(WWOX):c.1029C>G (p.Thr343=)
|
rs752273047
|
0.00003
|
|
NM_016373.4(WWOX):c.606-9A>G
|
rs370129950
|
0.00003
|
|
NM_016373.4(WWOX):c.636A>C (p.Ala212=)
|
rs1201180702
|
0.00003
|
|
NM_016373.4(WWOX):c.912C>T (p.Ser304=)
|
rs745464578
|
0.00003
|
|
NM_020708.5(SLC12A5):c.1337-8T>C
|
rs374330170
|
0.00003
|
|
NM_020708.5(SLC12A5):c.2028G>A (p.Val676=)
|
rs141236407
|
0.00003
|
|
NM_020708.5(SLC12A5):c.2330G>A (p.Arg777His)
|
rs749336515
|
0.00003
|
|
NM_020708.5(SLC12A5):c.2378-14T>C
|
rs373346348
|
0.00003
|
|
NM_020708.5(SLC12A5):c.2790C>T (p.Ile930=)
|
rs770662324
|
0.00003
|
|
NM_020708.5(SLC12A5):c.2862C>T (p.Asn954=)
|
rs754601939
|
0.00003
|
|
NM_020708.5(SLC12A5):c.3246T>C (p.Asn1082=)
|
rs750376604
|
0.00003
|
|
NM_020708.5(SLC12A5):c.339C>T (p.Gly113=)
|
rs145327140
|
0.00003
|
|
NM_020708.5(SLC12A5):c.537C>T (p.Ala179=)
|
rs200444155
|
0.00003
|
|
NM_020708.5(SLC12A5):c.855-19C>T
|
rs372069124
|
0.00003
|
|
NM_020822.3(KCNT1):c.111-8G>A
|
rs779128853
|
0.00003
|
|
NM_020822.3(KCNT1):c.1110G>A (p.Thr370=)
|
rs140367649
|
0.00003
|
|
NM_020822.3(KCNT1):c.1122G>T (p.Val374=)
|
rs774643792
|
0.00003
|
|
NM_020822.3(KCNT1):c.130G>T (p.Gly44Cys)
|
rs773228285
|
0.00003
|
|
NM_020822.3(KCNT1):c.1338-4G>A
|
rs963826986
|
0.00003
|
|
NM_020822.3(KCNT1):c.1395G>A (p.Thr465=)
|
rs777870376
|
0.00003
|
|
NM_020822.3(KCNT1):c.1407C>G (p.His469Gln)
|
rs537722828
|
0.00003
|
|
NM_020822.3(KCNT1):c.1449C>T (p.Pro483=)
|
rs765534465
|
0.00003
|
|
NM_020822.3(KCNT1):c.1593C>T (p.Thr531=)
|
rs749641549
|
0.00003
|
|
NM_020822.3(KCNT1):c.1620-15C>T
|
rs766797836
|
0.00003
|
|
NM_020822.3(KCNT1):c.1623G>A (p.Glu541=)
|
rs758644634
|
0.00003
|
|
NM_020822.3(KCNT1):c.1637C>T (p.Pro546Leu)
|
rs770986306
|
0.00003
|
|
NM_020822.3(KCNT1):c.1677C>T (p.Asn559=)
|
rs1028802868
|
0.00003
|
|
NM_020822.3(KCNT1):c.1680G>A (p.Glu560=)
|
rs143983055
|
0.00003
|
|
NM_020822.3(KCNT1):c.1806C>T (p.Asp602=)
|
rs1060505001
|
0.00003
|
|
NM_020822.3(KCNT1):c.2050A>C (p.Thr684Pro)
|
rs756570347
|
0.00003
|
|
NM_020822.3(KCNT1):c.2076C>T (p.Gly692=)
|
rs1267885761
|
0.00003
|
|
NM_020822.3(KCNT1):c.2097G>A (p.Thr699=)
|
rs762620377
|
0.00003
|
|
NM_020822.3(KCNT1):c.2109G>T (p.Ser703=)
|
rs767200583
|
0.00003
|
|
NM_020822.3(KCNT1):c.2201A>G (p.Asp734Gly)
|
rs1360863995
|
0.00003
|
|
NM_020822.3(KCNT1):c.2271G>A (p.Ser757=)
|
rs374981764
|
0.00003
|
|
NM_020822.3(KCNT1):c.233C>T (p.Pro78Leu)
|
rs771096934
|
0.00003
|
|
NM_020822.3(KCNT1):c.237C>T (p.Ser79=)
|
rs749179872
|
0.00003
|
|
NM_020822.3(KCNT1):c.2526C>T (p.Pro842=)
|
rs776258175
|
0.00003
|
|
NM_020822.3(KCNT1):c.2706C>T (p.Ile902=)
|
rs934780855
|
0.00003
|
|
NM_020822.3(KCNT1):c.2729+16G>A
|
rs373773787
|
0.00003
|
|
NM_020822.3(KCNT1):c.2729+19G>A
|
rs369987473
|
0.00003
|
|
NM_020822.3(KCNT1):c.2841+18G>A
|
rs763792397
|
0.00003
|
|
NM_020822.3(KCNT1):c.3072C>T (p.Arg1024=)
|
rs141695705
|
0.00003
|
|
NM_020822.3(KCNT1):c.3157-17G>A
|
rs753593622
|
0.00003
|
|
NM_020822.3(KCNT1):c.3252C>T (p.Gly1084=)
|
rs948170691
|
0.00003
|
|
NM_020822.3(KCNT1):c.3274C>T (p.Arg1092Cys)
|
rs1060503695
|
0.00003
|
|
NM_020822.3(KCNT1):c.3275G>A (p.Arg1092His)
|
rs369576806
|
0.00003
|
|
NM_020822.3(KCNT1):c.3297C>T (p.Pro1099=)
|
rs759060691
|
0.00003
|
|
NM_020822.3(KCNT1):c.3368A>G (p.Gln1123Arg)
|
rs775015763
|
0.00003
|
|
NM_020822.3(KCNT1):c.3410G>A (p.Arg1137His)
|
rs568818508
|
0.00003
|
|
NM_020822.3(KCNT1):c.600+9C>T
|
rs1287458024
|
0.00003
|
|
NM_020822.3(KCNT1):c.60G>A (p.Gly20=)
|
rs777349172
|
0.00003
|
|
NM_020822.3(KCNT1):c.732G>A (p.Leu244=)
|
rs759580596
|
0.00003
|
|
NM_020988.3(GNAO1):c.1008C>T (p.Phe336=)
|
rs763429802
|
0.00003
|
|
NM_020988.3(GNAO1):c.309C>T (p.Asp103=)
|
rs372103298
|
0.00003
|
|
NM_020988.3(GNAO1):c.351C>T (p.Thr117=)
|
rs770385484
|
0.00003
|
|
NM_020988.3(GNAO1):c.498C>T (p.Ala166=)
|
rs774947928
|
0.00003
|
|
NM_020988.3(GNAO1):c.897C>T (p.Asp299=)
|
rs148878451
|
0.00003
|
|
NM_020988.3(GNAO1):c.987G>A (p.Thr329=)
|
rs201638233
|
0.00003
|
|
NM_021072.4(HCN1):c.1044A>C (p.Ala348=)
|
rs745452621
|
0.00003
|
|
NM_021072.4(HCN1):c.1143C>T (p.Val381=)
|
rs761760627
|
0.00003
|
|
NM_021072.4(HCN1):c.1182C>T (p.Thr394=)
|
rs1261922847
|
0.00003
|
|
NM_021072.4(HCN1):c.1969A>G (p.Thr657Ala)
|
rs748070273
|
0.00003
|
|
NM_021072.4(HCN1):c.2232G>A (p.Pro744=)
|
rs757283749
|
0.00003
|
|
NM_021072.4(HCN1):c.2469C>T (p.Pro823=)
|
rs142485423
|
0.00003
|
|
NM_021072.4(HCN1):c.2659G>A (p.Ala887Thr)
|
rs757124569
|
0.00003
|
|
NM_021072.4(HCN1):c.265C>A (p.Arg89=)
|
rs763705954
|
0.00003
|
|
NM_021072.4(HCN1):c.298T>G (p.Ser100Ala)
|
rs780364002
|
0.00003
|
|
NM_021072.4(HCN1):c.369G>A (p.Glu123=)
|
rs956231769
|
0.00003
|
|
NM_021072.4(HCN1):c.726A>C (p.Gly242=)
|
rs199622227
|
0.00003
|
|
NM_021072.4(HCN1):c.993G>A (p.Val331=)
|
rs890637108
|
0.00003
|
|
NM_031844.3(HNRNPU):c.1117+9T>G
|
rs757861230
|
0.00003
|
|
NM_031844.3(HNRNPU):c.1548A>G (p.Lys516=)
|
rs1375842097
|
0.00003
|
|
NM_031844.3(HNRNPU):c.1893T>C (p.His631=)
|
rs146426697
|
0.00003
|
|
NM_031844.3(HNRNPU):c.1912+18T>C
|
rs761282964
|
0.00003
|
|
NM_031844.3(HNRNPU):c.1912+19G>A
|
rs1054002781
|
0.00003
|
|
NM_031844.3(HNRNPU):c.1913-7C>G
|
rs746741412
|
0.00003
|
|
NM_031844.3(HNRNPU):c.2274T>G (p.Val758=)
|
rs748148223
|
0.00003
|
|
NM_031844.3(HNRNPU):c.680C>T (p.Ala227Val)
|
rs755670533
|
0.00003
|
|
NM_031844.3(HNRNPU):c.875C>T (p.Thr292Ile)
|
rs141449330
|
0.00003
|
|
NM_031844.3(HNRNPU):c.878-10A>G
|
rs758558193
|
0.00003
|
|
NM_139058.3(ARX):c.1326G>A (p.Pro442=)
|
rs774538294
|
0.00003
|
|
NM_139058.3(ARX):c.166A>G (p.Ser56Gly)
|
rs144098296
|
0.00003
|
|
NM_139058.3(ARX):c.1674C>A (p.Gly558=)
|
rs888094094
|
0.00003
|
|
NM_139058.3(ARX):c.196+14C>G
|
rs377487471
|
0.00003
|
|
NM_139058.3(ARX):c.327G>A (p.Ala109=)
|
rs1340239089
|
0.00003
|
|
NM_139058.3(ARX):c.776T>C (p.Leu259Pro)
|
rs774291500
|
0.00003
|
|
NM_139318.5(KCNH5):c.1557T>C (p.Ile519=)
|
rs759624671
|
0.00003
|
|
NM_139318.5(KCNH5):c.1935C>G (p.Ala645=)
|
rs377008686
|
0.00003
|
|
NM_139318.5(KCNH5):c.2238C>T (p.Ser746=)
|
rs780581992
|
0.00003
|
|
NM_139318.5(KCNH5):c.2361C>T (p.Asn787=)
|
rs778860669
|
0.00003
|
|
NM_139318.5(KCNH5):c.396G>A (p.Thr132=)
|
rs143574473
|
0.00003
|
|
NM_152743.4(BRAT1):c.1026C>T (p.Asp342=)
|
rs761385305
|
0.00003
|
|
NM_152743.4(BRAT1):c.1086C>T (p.Ala362=)
|
rs762632677
|
0.00003
|
|
NM_152743.4(BRAT1):c.1322-9C>G
|
rs764641484
|
0.00003
|
|
NM_152743.4(BRAT1):c.1395+4C>T
|
rs550539572
|
0.00003
|
|
NM_152743.4(BRAT1):c.1620A>G (p.Ala540=)
|
rs762496445
|
0.00003
|
|
NM_152743.4(BRAT1):c.2094G>A (p.Val698=)
|
rs375314310
|
0.00003
|
|
NM_152743.4(BRAT1):c.2148G>A (p.Ala716=)
|
rs756583395
|
0.00003
|
|
NM_152743.4(BRAT1):c.2199C>T (p.Tyr733=)
|
rs139111440
|
0.00003
|
|
NM_152743.4(BRAT1):c.2358C>T (p.Ser786=)
|
rs750148903
|
0.00003
|
|
NM_152743.4(BRAT1):c.2448C>T (p.Asp816=)
|
rs200784213
|
0.00003
|
|
NM_152743.4(BRAT1):c.2454C>T (p.Ala818=)
|
rs557088612
|
0.00003
|
|
NM_152743.4(BRAT1):c.405C>T (p.Ser135=)
|
rs1011267673
|
0.00003
|
|
NM_152743.4(BRAT1):c.474G>A (p.Leu158=)
|
rs141198732
|
0.00003
|
|
NM_152743.4(BRAT1):c.627G>C (p.Ala209=)
|
rs533344105
|
0.00003
|
|
NM_152743.4(BRAT1):c.803+17G>A
|
rs1217864267
|
0.00003
|
|
NM_172107.4(KCNQ2):c.1118+8C>T
|
rs754114486
|
0.00003
|
|
NM_172107.4(KCNQ2):c.1137C>T (p.Tyr379=)
|
rs781144303
|
0.00003
|
|
NM_172107.4(KCNQ2):c.1161G>A (p.Pro387=)
|
rs147453497
|
0.00003
|
|
NM_172107.4(KCNQ2):c.1374G>A (p.Pro458=)
|
rs777441037
|
0.00003
|
|
NM_172107.4(KCNQ2):c.1632-8C>T
|
rs751010696
|
0.00003
|
|
NM_172107.4(KCNQ2):c.1914C>T (p.Asp638=)
|
rs367845107
|
0.00003
|
|
NM_172107.4(KCNQ2):c.1992G>A (p.Pro664=)
|
rs866315162
|
0.00003
|
|
NM_172107.4(KCNQ2):c.2040C>T (p.Val680=)
|
rs368050380
|
0.00003
|
|
NM_172107.4(KCNQ2):c.2067C>T (p.Ile689=)
|
rs766273173
|
0.00003
|
|
NM_172107.4(KCNQ2):c.2088G>A (p.Thr696=)
|
rs776224647
|
0.00003
|
|
NM_172107.4(KCNQ2):c.2127T>C (p.Pro709=)
|
rs113174319
|
0.00003
|
|
NM_172107.4(KCNQ2):c.2208C>T (p.His736=)
|
rs566020693
|
0.00003
|
|
NM_172107.4(KCNQ2):c.2259C>T (p.Ser753=)
|
rs749802787
|
0.00003
|
|
NM_172107.4(KCNQ2):c.2604C>T (p.Ala868=)
|
rs572267938
|
0.00003
|
|
NM_172107.4(KCNQ2):c.315C>T (p.Ser105=)
|
rs200224824
|
0.00003
|
|
NM_172107.4(KCNQ2):c.426C>T (p.Phe142=)
|
rs780770793
|
0.00003
|
|
NM_172107.4(KCNQ2):c.691-5C>T
|
rs886056921
|
0.00003
|
|
NM_173354.5(SIK1):c.1043A>G (p.Tyr348Cys)
|
rs754872537
|
0.00003
|
|
NM_173354.5(SIK1):c.1059C>T (p.Cys353=)
|
rs763345874
|
0.00003
|
|
NM_173354.5(SIK1):c.1064G>A (p.Arg355His)
|
rs759838082
|
0.00003
|
|
NM_173354.5(SIK1):c.1120-8G>A
|
rs375763167
|
0.00003
|
|
NM_173354.5(SIK1):c.1246-4G>A
|
rs368813444
|
0.00003
|
|
NM_173354.5(SIK1):c.1299C>T (p.Pro433=)
|
rs749291191
|
0.00003
|
|
NM_173354.5(SIK1):c.1309A>G (p.Ser437Gly)
|
rs151326084
|
0.00003
|
|
NM_173354.5(SIK1):c.1380G>A (p.Thr460=)
|
rs373572087
|
0.00003
|
|
NM_173354.5(SIK1):c.1416C>T (p.His472=)
|
rs1555891087
|
0.00003
|
|
NM_173354.5(SIK1):c.1422G>A (p.Leu474=)
|
rs1391745784
|
0.00003
|
|
NM_173354.5(SIK1):c.1462+13G>A
|
rs370082383
|
0.00003
|
|
NM_173354.5(SIK1):c.1593C>T (p.Gly531=)
|
rs767538729
|
0.00003
|
|
NM_173354.5(SIK1):c.1725G>A (p.Ser575=)
|
rs547895705
|
0.00003
|
|
NM_173354.5(SIK1):c.1739C>T (p.Thr580Ile)
|
rs751643088
|
0.00003
|
|
NM_173354.5(SIK1):c.1744+9C>T
|
rs764319720
|
0.00003
|
|
NM_173354.5(SIK1):c.1917C>T (p.Gly639=)
|
rs751294210
|
0.00003
|
|
NM_173354.5(SIK1):c.2088G>A (p.Pro696=)
|
rs376915289
|
0.00003
|
|
NM_173354.5(SIK1):c.2091C>T (p.Leu697=)
|
rs779483942
|
0.00003
|
|
NM_173354.5(SIK1):c.2154G>A (p.Ala718=)
|
rs529008487
|
0.00003
|
|
NM_173354.5(SIK1):c.2217C>T (p.Thr739=)
|
rs112091900
|
0.00003
|
|
NM_173354.5(SIK1):c.303C>T (p.Ile101=)
|
rs149932987
|
0.00003
|
|
NM_173354.5(SIK1):c.378G>A (p.Ala126=)
|
rs770396993
|
0.00003
|
|
NM_173354.5(SIK1):c.408C>T (p.Ala136=)
|
rs150770510
|
0.00003
|
|
NM_173354.5(SIK1):c.435C>T (p.Ile145=)
|
rs200536006
|
0.00003
|
|
NM_173354.5(SIK1):c.624+18G>A
|
rs369279240
|
0.00003
|
|
NM_173354.5(SIK1):c.705G>A (p.Arg235=)
|
rs752187558
|
0.00003
|
|
NM_173354.5(SIK1):c.748+8G>A
|
rs201327272
|
0.00003
|
|
NM_173354.5(SIK1):c.750C>G (p.Asp250Glu)
|
rs757740944
|
0.00003
|
|
NM_173354.5(SIK1):c.879C>T (p.Ser293=)
|
rs138160311
|
0.00003
|
|
NM_173728.4(ARHGEF15):c.1362C>A (p.Thr454=)
|
rs1376463435
|
0.00003
|
|
NM_173728.4(ARHGEF15):c.2033+19A>C
|
rs375517299
|
0.00003
|
|
NM_173728.4(ARHGEF15):c.2356C>T (p.Leu786=)
|
rs747082972
|
0.00003
|
|
NM_173728.4(ARHGEF15):c.63C>T (p.Arg21=)
|
rs577853522
|
0.00003
|
|
NM_177550.5(SLC13A5):c.1062C>T (p.Val354=)
|
rs908065981
|
0.00003
|
|
NM_177550.5(SLC13A5):c.1206C>T (p.Thr402=)
|
rs143869456
|
0.00003
|
|
NM_177550.5(SLC13A5):c.1281G>A (p.Ser427=)
|
rs377534564
|
0.00003
|
|
NM_177550.5(SLC13A5):c.1290C>T (p.Ser430=)
|
rs756166033
|
0.00003
|
|
NM_177550.5(SLC13A5):c.1485C>G (p.Thr495=)
|
rs907914369
|
0.00003
|
|
NM_177550.5(SLC13A5):c.207C>T (p.Leu69=)
|
rs560691044
|
0.00003
|
|
NM_177550.5(SLC13A5):c.368+9G>A
|
rs764226590
|
0.00003
|
|
NM_177550.5(SLC13A5):c.654C>T (p.Ile218=)
|
rs547998800
|
0.00003
|
|
NM_177550.5(SLC13A5):c.906G>T (p.Leu302=)
|
rs1334051824
|
0.00003
|
|
NM_203446.3(SYNJ1):c.*666A>G
|
rs763776246
|
0.00003
|
|
NM_203446.3(SYNJ1):c.*729G>A
|
rs771278245
|
0.00003
|
|
NM_203446.3(SYNJ1):c.*738C>T
|
rs747245690
|
0.00003
|
|
NM_203446.3(SYNJ1):c.-22-10G>A
|
rs375719186
|
0.00003
|
|
NM_203446.3(SYNJ1):c.-23+11C>T
|
rs1000113626
|
0.00003
|
|
NM_203446.3(SYNJ1):c.1002C>T (p.Asp334=)
|
rs763601982
|
0.00003
|
|
NM_203446.3(SYNJ1):c.125-13del
|
rs763797914
|
0.00003
|
|
NM_203446.3(SYNJ1):c.1511-4A>G
|
rs533995497
|
0.00003
|
|
NM_203446.3(SYNJ1):c.1534+16T>A
|
rs1244807022
|
0.00003
|
|
NM_203446.3(SYNJ1):c.1611C>T (p.Val537=)
|
rs150180190
|
0.00003
|
|
NM_203446.3(SYNJ1):c.165A>G (p.Lys55=)
|
rs141138675
|
0.00003
|
|
NM_203446.3(SYNJ1):c.2146-8G>A
|
rs759701632
|
0.00003
|
|
NM_203446.3(SYNJ1):c.243C>T (p.Val81=)
|
rs769645055
|
0.00003
|
|
NM_203446.3(SYNJ1):c.2520G>A (p.Thr840=)
|
rs746832641
|
0.00003
|
|
NM_203446.3(SYNJ1):c.2587G>A (p.Val863Ile)
|
rs377350366
|
0.00003
|
|
NM_203446.3(SYNJ1):c.3037+18A>G
|
rs780721031
|
0.00003
|
|
NM_203446.3(SYNJ1):c.324C>T (p.Ile108=)
|
rs551070196
|
0.00003
|
|
NM_203446.3(SYNJ1):c.3392-8A>T
|
rs533064963
|
0.00003
|
|
NM_203446.3(SYNJ1):c.3431-8C>A
|
rs369584002
|
0.00003
|
|
NM_203446.3(SYNJ1):c.705+17A>G
|
rs751404810
|
0.00003
|
|
NM_203446.3(SYNJ1):c.706-19A>G
|
rs544943206
|
0.00003
|
|
NM_203446.3(SYNJ1):c.790-20A>G
|
rs754054175
|
0.00003
|
|
NM_000330.4(RS1):c.184+3119G>A
|
rs762576315
|
0.00002
|
|
NM_000330.4(RS1):c.184+3151C>T
|
rs910286513
|
0.00002
|
|
NM_000330.4(RS1):c.184+3160G>T
|
rs587783163
|
0.00002
|
|
NM_000330.4(RS1):c.184+3171C>T
|
rs727503848
|
0.00002
|
|
NM_000330.4(RS1):c.184+3190C>A
|
rs267608667
|
0.00002
|
|
NM_000330.4(RS1):c.185-3188G>A
|
rs267608665
|
0.00002
|
|
NM_000330.4(RS1):c.326+1130C>T
|
rs1487927674
|
0.00002
|
|
NM_000834.5(GRIN2B):c.1020C>T (p.Ile340=)
|
rs778209882
|
0.00002
|
|
NM_000834.5(GRIN2B):c.162C>T (p.His54=)
|
rs200767968
|
0.00002
|
|
NM_000834.5(GRIN2B):c.1781-4C>A
|
rs371286528
|
0.00002
|
|
NM_000834.5(GRIN2B):c.1881C>T (p.Thr627=)
|
rs768296067
|
0.00002
|
|
NM_000834.5(GRIN2B):c.1923C>A (p.Ile641=)
|
rs767875110
|
0.00002
|
|
NM_000834.5(GRIN2B):c.2055C>T (p.Thr685=)
|
rs375843467
|
0.00002
|
|
NM_000834.5(GRIN2B):c.2359+16G>C
|
rs781365670
|
0.00002
|
|
NM_000834.5(GRIN2B):c.2442C>T (p.Asp814=)
|
rs772903335
|
0.00002
|
|
NM_000834.5(GRIN2B):c.2649A>T (p.Val883=)
|
rs535415512
|
0.00002
|
|
NM_000834.5(GRIN2B):c.2757G>A (p.Gln919=)
|
rs750801474
|
0.00002
|
|
NM_000834.5(GRIN2B):c.3012C>T (p.Tyr1004=)
|
rs201439880
|
0.00002
|
|
NM_000834.5(GRIN2B):c.3156C>T (p.His1052=)
|
rs543452359
|
0.00002
|
|
NM_000834.5(GRIN2B):c.3159C>T (p.Asp1053=)
|
rs776986575
|
0.00002
|
|
NM_000834.5(GRIN2B):c.3189C>T (p.Ile1063=)
|
rs1048069070
|
0.00002
|
|
NM_000834.5(GRIN2B):c.3285G>A (p.Ser1095=)
|
rs200058641
|
0.00002
|
|
NM_000834.5(GRIN2B):c.3504C>T (p.Ser1168=)
|
rs183502070
|
0.00002
|
|
NM_000834.5(GRIN2B):c.3702G>C (p.Ser1234=)
|
rs753797364
|
0.00002
|
|
NM_000834.5(GRIN2B):c.3964G>A (p.Val1322Ile)
|
rs200255226
|
0.00002
|
|
NM_000834.5(GRIN2B):c.4008C>T (p.Tyr1336=)
|
rs764080484
|
0.00002
|
|
NM_000834.5(GRIN2B):c.4066G>A (p.Val1356Met)
|
rs796052579
|
0.00002
|
|
NM_000834.5(GRIN2B):c.4410T>C (p.Asn1470=)
|
rs199819153
|
0.00002
|
|
NM_000834.5(GRIN2B):c.4434T>C (p.Ser1478=)
|
rs1462553586
|
0.00002
|
|
NM_000834.5(GRIN2B):c.732C>G (p.Ala244=)
|
rs201554036
|
0.00002
|
|
NM_001032221.6(STXBP1):c.1030-16T>C
|
rs764937444
|
0.00002
|
|
NM_001032221.6(STXBP1):c.1462-13C>G
|
rs199700009
|
0.00002
|
|
NM_001032221.6(STXBP1):c.1632T>C (p.Gly544=)
|
rs748307696
|
0.00002
|
|
NM_001032221.6(STXBP1):c.255C>T (p.His85=)
|
rs768884290
|
0.00002
|
|
NM_001032221.6(STXBP1):c.365G>A (p.Arg122Gln)
|
rs773885228
|
0.00002
|
|
NM_001040142.2(SCN2A):c.1131A>G (p.Leu377=)
|
rs928600496
|
0.00002
|
|
NM_001040142.2(SCN2A):c.1353A>G (p.Glu451=)
|
rs559725593
|
0.00002
|
|
NM_001040142.2(SCN2A):c.1398C>T (p.Ala466=)
|
rs373430899
|
0.00002
|
|
NM_001040142.2(SCN2A):c.1437G>C (p.Gly479=)
|
rs940572077
|
0.00002
|
|
NM_001040142.2(SCN2A):c.1889G>A (p.Arg630His)
|
rs150040573
|
0.00002
|
|
NM_001040142.2(SCN2A):c.2150-9T>C
|
rs979249844
|
0.00002
|
|
NM_001040142.2(SCN2A):c.2386C>T (p.Leu796=)
|
rs943031760
|
0.00002
|
|
NM_001040142.2(SCN2A):c.252C>T (p.Tyr84=)
|
rs143065769
|
0.00002
|
|
NM_001040142.2(SCN2A):c.2631T>C (p.Ser877=)
|
rs1292645984
|
0.00002
|
|
NM_001040142.2(SCN2A):c.270G>A (p.Thr90=)
|
rs776081713
|
0.00002
|
|
NM_001040142.2(SCN2A):c.3195C>A (p.Leu1065=)
|
rs150369313
|
0.00002
|
|
NM_001040142.2(SCN2A):c.3261G>T (p.Val1087=)
|
rs932319701
|
0.00002
|
|
NM_001040142.2(SCN2A):c.3521-15T>C
|
rs886055000
|
0.00002
|
|
NM_001040142.2(SCN2A):c.3521-9A>G
|
rs748099173
|
0.00002
|
|
NM_001040142.2(SCN2A):c.3624T>C (p.Asn1208=)
|
rs552725434
|
0.00002
|
|
NM_001040142.2(SCN2A):c.3675+9T>C
|
rs372657571
|
0.00002
|
|
NM_001040142.2(SCN2A):c.387-6T>C
|
rs1386314410
|
0.00002
|
|
NM_001040142.2(SCN2A):c.4094A>G (p.His1365Arg)
|
rs762800170
|
0.00002
|
|
NM_001040142.2(SCN2A):c.414G>A (p.Thr138=)
|
rs553026899
|
0.00002
|
|
NM_001040142.2(SCN2A):c.4552-9T>C
|
rs760228082
|
0.00002
|
|
NM_001040142.2(SCN2A):c.4671A>G (p.Gln1557=)
|
rs757986594
|
0.00002
|
|
NM_001040142.2(SCN2A):c.5119C>T (p.Leu1707=)
|
rs2227897
|
0.00002
|
|
NM_001040142.2(SCN2A):c.5709A>G (p.Lys1903=)
|
rs780697553
|
0.00002
|
|
NM_001040142.2(SCN2A):c.5994A>G (p.Lys1998=)
|
rs745810335
|
0.00002
|
|
NM_001040142.2(SCN2A):c.698-20C>T
|
rs748075978
|
0.00002
|
|
NM_001040142.2(SCN2A):c.9G>A (p.Gln3=)
|
rs1435672829
|
0.00002
|
|
NM_001099922.3(ALG13):c.1005+15G>A
|
rs751530957
|
0.00002
|
|
NM_001099922.3(ALG13):c.1005+4A>G
|
rs758242204
|
0.00002
|
|
NM_001099922.3(ALG13):c.1377C>T (p.Ala459=)
|
rs368020541
|
0.00002
|
|
NM_001099922.3(ALG13):c.1596G>A (p.Ala532=)
|
rs891310320
|
0.00002
|
|
NM_001099922.3(ALG13):c.1822G>C (p.Asp608His)
|
rs374870130
|
0.00002
|
|
NM_001099922.3(ALG13):c.1977-12C>T
|
rs374618611
|
0.00002
|
|
NM_001099922.3(ALG13):c.2112C>T (p.Arg704=)
|
rs775927215
|
0.00002
|
|
NM_001099922.3(ALG13):c.2248-11C>T
|
rs377064873
|
0.00002
|
|
NM_001099922.3(ALG13):c.2324A>G (p.Lys775Arg)
|
rs766946325
|
0.00002
|
|
NM_001099922.3(ALG13):c.2754A>G (p.Leu918=)
|
rs1057523456
|
0.00002
|
|
NM_001099922.3(ALG13):c.2863T>C (p.Leu955=)
|
rs1200753439
|
0.00002
|
|
NM_001099922.3(ALG13):c.2973+20T>A
|
rs368694871
|
0.00002
|
|
NM_001099922.3(ALG13):c.3404A>G (p.Gln1135Arg)
|
rs771207661
|
0.00002
|
|
NM_001099922.3(ALG13):c.441A>G (p.Gln147=)
|
rs1391605283
|
0.00002
|
|
NM_001099922.3(ALG13):c.541A>G (p.Thr181Ala)
|
rs774646647
|
0.00002
|
|
NM_001099922.3(ALG13):c.54G>A (p.Ala18=)
|
rs1406539581
|
0.00002
|
|
NM_001099922.3(ALG13):c.588T>G (p.Pro196=)
|
rs747214832
|
0.00002
|
|
NM_001099922.3(ALG13):c.696T>C (p.Phe232=)
|
rs766736046
|
0.00002
|
|
NM_001099922.3(ALG13):c.6G>A (p.Lys2=)
|
rs1380956380
|
0.00002
|
|
NM_001099922.3(ALG13):c.804T>C (p.Tyr268=)
|
rs1375106247
|
0.00002
|
|
NM_001099922.3(ALG13):c.885+14T>C
|
rs746055178
|
0.00002
|
|
NM_001099922.3(ALG13):c.886-19A>G
|
rs773121084
|
0.00002
|
|
NM_001099922.3(ALG13):c.889A>G (p.Ser297Gly)
|
rs372176416
|
0.00002
|
|
NM_001099922.3(ALG13):c.933-4A>G
|
rs1389043493
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.1083-11T>C
|
rs777235021
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.1246C>G (p.Pro416Ala)
|
rs371138043
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.1248C>G (p.Pro416=)
|
rs1158411031
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.1256-9T>C
|
rs758786727
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.1356C>T (p.Phe452=)
|
rs41276888
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.1513A>G (p.Ile505Val)
|
rs750557478
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.1716T>C (p.Pro572=)
|
rs923412087
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.1737C>T (p.Ser579=)
|
rs371161901
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.1881C>T (p.Phe627=)
|
rs371268760
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.2256C>T (p.Ser752=)
|
rs764816582
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.2280-16G>A
|
rs759745350
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.2377C>T (p.Leu793=)
|
rs759875039
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.2434C>T (p.Arg812Trp)
|
rs369084322
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.2483A>G (p.Gln828Arg)
|
rs753196787
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.2532C>T (p.Thr844=)
|
rs761929729
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.2729T>G (p.Leu910Arg)
|
rs953766694
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.285C>T (p.Thr95=)
|
rs758206206
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.2889G>A (p.Arg963=)
|
rs1390620211
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.2963G>A (p.Gly988Asp)
|
rs1271411894
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.3045G>A (p.Gly1015=)
|
rs1400869068
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.3078T>A (p.His1026Gln)
|
rs1202322408
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.3089+16C>T
|
rs897924558
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.3178C>T (p.Pro1060Ser)
|
rs969592968
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.3228G>A (p.Ala1076=)
|
rs373678395
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.3264C>T (p.Ala1088=)
|
rs916089734
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.3403G>A (p.Gly1135Ser)
|
rs762006290
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.3420C>T (p.Pro1140=)
|
rs542849275
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.3421G>A (p.Glu1141Lys)
|
rs780535727
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.3426T>C (p.Asn1142=)
|
rs1326349920
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.3436G>A (p.Val1146Ile)
|
rs376365775
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.3786C>T (p.Ala1262=)
|
rs572832442
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.3883-20C>T
|
rs769443982
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.4173C>T (p.Ala1391=)
|
rs371589326
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.4251-19T>A
|
rs763689584
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.4251-4G>A
|
rs201785699
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.4440C>T (p.Pro1480=)
|
rs756711282
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.4530C>T (p.Ile1510=)
|
rs371060261
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.4591-4G>A
|
rs370348070
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.4608C>T (p.Phe1536=)
|
rs760679421
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.4617C>T (p.Ser1539=)
|
rs1051975
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.4662C>G (p.Phe1554Leu)
|
rs182161386
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.4695G>A (p.Pro1565=)
|
rs753924411
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.4772T>C (p.Val1591Ala)
|
rs770150171
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.5157C>T (p.Asp1719=)
|
rs758409135
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.5158G>A (p.Val1720Met)
|
rs537982877
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.5166C>T (p.Asp1722=)
|
rs200501726
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.539+12G>A
|
rs148855231
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.540-20T>C
|
rs756413933
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.5508C>T (p.Ala1836=)
|
rs750338421
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.5731+20G>A
|
rs774752183
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.5732-20T>C
|
rs1425639727
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.5839+15C>T
|
rs756095565
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.5844G>A (p.Thr1948=)
|
rs368203745
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.5979G>A (p.Pro1993=)
|
rs540390772
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.5986A>G (p.Thr1996Ala)
|
rs141963371
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6013G>A (p.Ala2005Thr)
|
rs374063403
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6101G>A (p.Arg2034His)
|
rs369555957
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6229G>A (p.Asp2077Asn)
|
rs757223826
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6340-7C>A
|
rs765609971
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6346T>G (p.Ser2116Ala)
|
rs576057388
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6368G>C (p.Arg2123Pro)
|
rs1220294928
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6408C>T (p.Asp2136=)
|
rs779701046
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6451C>T (p.His2151Tyr)
|
rs1005361810
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6464G>T (p.Arg2155Leu)
|
rs572722130
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6467G>A (p.Arg2156His)
|
rs755749925
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6472C>T (p.Arg2158Cys)
|
rs774289573
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6482G>A (p.Arg2161His)
|
rs769503871
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6513C>T (p.Thr2171=)
|
rs756597852
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6526+10C>A
|
rs1425384815
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6526+7A>G
|
rs972428713
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6662C>T (p.Pro2221Leu)
|
rs778551911
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6781-6G>A
|
rs757167417
|
0.00002
|
|
NM_001130438.3(SPTAN1):c.1350G>A (p.Ala450=)
|
rs374478564
|
0.00002
|
|
NM_001130438.3(SPTAN1):c.1461+14A>C
|
rs376751145
|
0.00002
|
|
NM_001130438.3(SPTAN1):c.1548T>C (p.Leu516=)
|
rs909370953
|
0.00002
|
|
NM_001130438.3(SPTAN1):c.1683A>G (p.Arg561=)
|
rs772119238
|
0.00002
|
|
NM_001130438.3(SPTAN1):c.1707A>G (p.Leu569=)
|
rs757578154
|
0.00002
|
|
NM_001130438.3(SPTAN1):c.1758G>A (p.Lys586=)
|
rs758019827
|
0.00002
|
|
NM_001130438.3(SPTAN1):c.2194-19T>C
|
rs371322683
|
0.00002
|
|
NM_001130438.3(SPTAN1):c.237+5G>A
|
rs747501430
|
0.00002
|
|
NM_001130438.3(SPTAN1):c.2438-19G>T
|
rs760955571
|
0.00002
|
|
NM_001130438.3(SPTAN1):c.2560+8del
|
rs768243872
|
0.00002
|
|
NM_001130438.3(SPTAN1):c.2589C>G (p.Ala863=)
|
rs528752928
|
0.00002
|
|
NM_001130438.3(SPTAN1):c.2778+17A>G
|
rs757140291
|
0.00002
|
|
NM_001130438.3(SPTAN1):c.2796C>T (p.His932=)
|
rs755933560
|
0.00002
|
|
NM_001130438.3(SPTAN1):c.2985C>T (p.Thr995=)
|
rs777441722
|
0.00002
|
|
NM_001130438.3(SPTAN1):c.3155+12A>G
|
rs184577750
|
0.00002
|
|
NM_001130438.3(SPTAN1):c.3183T>C (p.Ser1061=)
|
rs776441600
|
0.00002
|
|
NM_001130438.3(SPTAN1):c.3216-15C>G
|
rs762562811
|
0.00002
|
|
NM_001130438.3(SPTAN1):c.3219T>C (p.Tyr1073=)
|
rs761538979
|
0.00002
|
|
NM_001130438.3(SPTAN1):c.3579+10C>T
|
rs1417674497
|
0.00002
|
|
NM_001130438.3(SPTAN1):c.357C>T (p.Thr119=)
|
rs759573145
|
0.00002
|
|
NM_001130438.3(SPTAN1):c.3719+9_3719+10insTC
|
rs896571703
|
0.00002
|
|
NM_001130438.3(SPTAN1):c.3985G>C (p.Asp1329His)
|
rs1368132952
|
0.00002
|
|
NM_001130438.3(SPTAN1):c.4017C>T (p.His1339=)
|
rs745529207
|
0.00002
|
|
NM_001130438.3(SPTAN1):c.4524C>T (p.Ala1508=)
|
rs371100708
|
0.00002
|
|
NM_001130438.3(SPTAN1):c.4725T>C (p.Ser1575=)
|
rs753055605
|
0.00002
|
|
NM_001130438.3(SPTAN1):c.4785G>A (p.Gln1595=)
|
rs746824729
|
0.00002
|
|
NM_001130438.3(SPTAN1):c.4809G>A (p.Glu1603=)
|
rs745887395
|
0.00002
|
|
NM_001130438.3(SPTAN1):c.5044-16G>C
|
rs747282086
|
0.00002
|
|
NM_001130438.3(SPTAN1):c.5139T>C (p.Ser1713=)
|
rs755166792
|
0.00002
|
|
NM_001130438.3(SPTAN1):c.5274G>A (p.Ala1758=)
|
rs775305903
|
0.00002
|
|
NM_001130438.3(SPTAN1):c.5322C>T (p.Phe1774=)
|
rs780530803
|
0.00002
|
|
NM_001130438.3(SPTAN1):c.5358-18T>A
|
rs754212051
|
0.00002
|
|
NM_001130438.3(SPTAN1):c.5601-6_5601-5del
|
rs781645028
|
0.00002
|
|
NM_001130438.3(SPTAN1):c.5689C>T (p.Leu1897=)
|
rs755434212
|
0.00002
|
|
NM_001130438.3(SPTAN1):c.5724C>T (p.Ala1908=)
|
rs886063507
|
0.00002
|
|
NM_001130438.3(SPTAN1):c.57G>A (p.Arg19=)
|
rs1015182699
|
0.00002
|
|
NM_001130438.3(SPTAN1):c.5913C>T (p.Ala1971=)
|
rs373426828
|
0.00002
|
|
NM_001130438.3(SPTAN1):c.5943G>A (p.Ser1981=)
|
rs556796231
|
0.00002
|
|
NM_001130438.3(SPTAN1):c.5993-9G>A
|
rs761329975
|
0.00002
|
|
NM_001130438.3(SPTAN1):c.6133A>G (p.Lys2045Glu)
|
rs753515426
|
0.00002
|
|
NM_001130438.3(SPTAN1):c.6183C>T (p.Ala2061=)
|
rs775886527
|
0.00002
|
|
NM_001130438.3(SPTAN1):c.6300C>G (p.Thr2100=)
|
rs370624702
|
0.00002
|
|
NM_001130438.3(SPTAN1):c.6303C>T (p.Phe2101=)
|
rs1057522086
|
0.00002
|
|
NM_001130438.3(SPTAN1):c.6308A>G (p.Lys2103Arg)
|
rs796053322
|
0.00002
|
|
NM_001130438.3(SPTAN1):c.6404G>A (p.Arg2135His)
|
rs373259652
|
0.00002
|
|
NM_001130438.3(SPTAN1):c.6411C>G (p.Ala2137=)
|
rs966742359
|
0.00002
|
|
NM_001130438.3(SPTAN1):c.6424C>T (p.Arg2142Cys)
|
rs796053323
|
0.00002
|
|
NM_001130438.3(SPTAN1):c.6468C>T (p.Ala2156=)
|
rs551663711
|
0.00002
|
|
NM_001130438.3(SPTAN1):c.6534G>A (p.Glu2178=)
|
rs370113838
|
0.00002
|
|
NM_001130438.3(SPTAN1):c.6577-12T>C
|
rs1004458044
|
0.00002
|
|
NM_001130438.3(SPTAN1):c.6689+19C>T
|
rs1166975063
|
0.00002
|
|
NM_001130438.3(SPTAN1):c.6702C>T (p.Leu2234=)
|
rs750819513
|
0.00002
|
|
NM_001130438.3(SPTAN1):c.6726G>A (p.Glu2242=)
|
rs745750589
|
0.00002
|
|
NM_001130438.3(SPTAN1):c.678C>T (p.Ile226=)
|
rs1716799949
|
0.00002
|
|
NM_001130438.3(SPTAN1):c.7074C>T (p.Arg2358=)
|
rs771456936
|
0.00002
|
|
NM_001130438.3(SPTAN1):c.7090C>T (p.Leu2364=)
|
rs374893683
|
0.00002
|
|
NM_001130438.3(SPTAN1):c.7316C>T (p.Thr2439Ile)
|
rs746532292
|
0.00002
|
|
NM_001130438.3(SPTAN1):c.7418C>T (p.Ser2473Leu)
|
rs371177004
|
0.00002
|
|
NM_001130438.3(SPTAN1):c.789T>C (p.Asp263=)
|
rs772435490
|
0.00002
|
|
NM_001130438.3(SPTAN1):c.930+18del
|
rs1564211538
|
0.00002
|
|
NM_001165963.4(SCN1A):c.1278C>T (p.Tyr426=)
|
rs146515561
|
0.00002
|
|
NM_001165963.4(SCN1A):c.1389G>A (p.Thr463=)
|
rs766100236
|
0.00002
|
|
NM_001165963.4(SCN1A):c.1663-7C>T
|
rs759815616
|
0.00002
|
|
NM_001165963.4(SCN1A):c.1911G>A (p.Ala637=)
|
rs192102141
|
0.00002
|
|
NM_001165963.4(SCN1A):c.1980T>G (p.Pro660=)
|
rs1379958414
|
0.00002
|
|
NM_001165963.4(SCN1A):c.2007A>G (p.Pro669=)
|
rs993370830
|
0.00002
|
|
NM_001165963.4(SCN1A):c.2043+9G>A
|
rs1389330683
|
0.00002
|
|
NM_001165963.4(SCN1A):c.2078G>T (p.Arg693Met)
|
rs750260160
|
0.00002
|
|
NM_001165963.4(SCN1A):c.2085T>G (p.Ser695Arg)
|
rs764865083
|
0.00002
|
|
NM_001165963.4(SCN1A):c.2177-15_2177-14insC
|
rs762175641
|
0.00002
|
|
NM_001165963.4(SCN1A):c.2378C>T (p.Thr793Met)
|
rs762038032
|
0.00002
|
|
NM_001165963.4(SCN1A):c.2577T>C (p.Arg859=)
|
rs569598595
|
0.00002
|
|
NM_001165963.4(SCN1A):c.2587T>C (p.Leu863=)
|
rs542026944
|
0.00002
|
|
NM_001165963.4(SCN1A):c.2715C>T (p.Ala905=)
|
rs778280690
|
0.00002
|
|
NM_001165963.4(SCN1A):c.2716G>A (p.Val906Met)
|
rs185760342
|
0.00002
|
|
NM_001165963.4(SCN1A):c.2838C>T (p.Arg946=)
|
rs764174474
|
0.00002
|
|
NM_001165963.4(SCN1A):c.2947-7T>G
|
rs913084871
|
0.00002
|
|
NM_001165963.4(SCN1A):c.3012T>C (p.Asp1004=)
|
rs748537030
|
0.00002
|
|
NM_001165963.4(SCN1A):c.3165C>T (p.Asn1055=)
|
rs797045939
|
0.00002
|
|
NM_001165963.4(SCN1A):c.3276T>G (p.Val1092=)
|
rs895560193
|
0.00002
|
|
NM_001165963.4(SCN1A):c.3450C>T (p.Ser1150=)
|
rs727504137
|
0.00002
|
|
NM_001165963.4(SCN1A):c.3502G>A (p.Val1168Ile)
|
rs146374754
|
0.00002
|
|
NM_001165963.4(SCN1A):c.3550+16C>T
|
rs1000651886
|
0.00002
|
|
NM_001165963.4(SCN1A):c.3597C>T (p.Gly1199=)
|
rs376901032
|
0.00002
|
|
NM_001165963.4(SCN1A):c.3638G>A (p.Arg1213Gln)
|
rs566081370
|
0.00002
|
|
NM_001165963.4(SCN1A):c.3879+9C>T
|
rs570092799
|
0.00002
|
|
NM_001165963.4(SCN1A):c.3978C>T (p.Ala1326=)
|
rs150831315
|
0.00002
|
|
NM_001165963.4(SCN1A):c.4002+2084A>G
|
rs1355573329
|
0.00002
|
|
NM_001165963.4(SCN1A):c.4002+2370T>C
|
rs1188572792
|
0.00002
|
|
NM_001165963.4(SCN1A):c.4002+2494T>C
|
rs1057202299
|
0.00002
|
|
NM_001165963.4(SCN1A):c.4002+8A>G
|
rs762574934
|
0.00002
|
|
NM_001165963.4(SCN1A):c.4095C>T (p.Gly1365=)
|
rs372749240
|
0.00002
|
|
NM_001165963.4(SCN1A):c.4284+7G>A
|
rs745918943
|
0.00002
|
|
NM_001165963.4(SCN1A):c.473+14A>G
|
rs376301638
|
0.00002
|
|
NM_001165963.4(SCN1A):c.5028A>G (p.Leu1676=)
|
rs763806559
|
0.00002
|
|
NM_001165963.4(SCN1A):c.5070C>T (p.Ser1690=)
|
rs372367100
|
0.00002
|
|
NM_001165963.4(SCN1A):c.5277A>C (p.Pro1759=)
|
rs1044871344
|
0.00002
|
|
NM_001165963.4(SCN1A):c.5787C>T (p.His1929=)
|
rs371253263
|
0.00002
|
|
NM_001165963.4(SCN1A):c.5809C>G (p.Gln1937Glu)
|
rs1358776988
|
0.00002
|
|
NM_001165963.4(SCN1A):c.5874C>T (p.Asp1958=)
|
rs951275940
|
0.00002
|
|
NM_001165963.4(SCN1A):c.670T>C (p.Leu224=)
|
rs764891727
|
0.00002
|
|
NM_001165963.4(SCN1A):c.765G>A (p.Val255=)
|
rs377331238
|
0.00002
|
|
NM_001165963.4(SCN1A):c.777C>T (p.Ser259=)
|
rs121918735
|
0.00002
|
|
NM_001165963.4(SCN1A):c.886A>G (p.Ile296Val)
|
rs373772491
|
0.00002
|
|
NM_001165963.4(SCN1A):c.919G>A (p.Glu307Lys)
|
rs1275890918
|
0.00002
|
|
NM_001165963.4(SCN1A):c.981G>A (p.Leu327=)
|
rs758723150
|
0.00002
|
|
NM_001184880.2(PCDH19):c.1200G>A (p.Glu400=)
|
rs759132569
|
0.00002
|
|
NM_001184880.2(PCDH19):c.1552C>T (p.Leu518=)
|
rs1197941611
|
0.00002
|
|
NM_001184880.2(PCDH19):c.1752C>T (p.Gly584=)
|
rs1240901255
|
0.00002
|
|
NM_001184880.2(PCDH19):c.2289-11C>G
|
rs777190334
|
0.00002
|
|
NM_001184880.2(PCDH19):c.2451C>T (p.His817=)
|
rs759932441
|
0.00002
|
|
NM_001184880.2(PCDH19):c.2460G>A (p.Thr820=)
|
rs766769854
|
0.00002
|
|
NM_001184880.2(PCDH19):c.2721T>C (p.Ser907=)
|
rs376946966
|
0.00002
|
|
NM_001184880.2(PCDH19):c.2994T>C (p.Thr998=)
|
rs745398684
|
0.00002
|
|
NM_001184880.2(PCDH19):c.3045C>T (p.Phe1015=)
|
rs746702101
|
0.00002
|
|
NM_001184880.2(PCDH19):c.3078G>A (p.Pro1026=)
|
rs1358480010
|
0.00002
|
|
NM_001184880.2(PCDH19):c.3120T>C (p.Asp1040=)
|
rs199702403
|
0.00002
|
|
NM_001184880.2(PCDH19):c.3183G>A (p.Ala1061=)
|
rs746084690
|
0.00002
|
|
NM_001184880.2(PCDH19):c.321C>T (p.Ser107=)
|
rs767664406
|
0.00002
|
|
NM_001184880.2(PCDH19):c.3228C>T (p.Pro1076=)
|
rs759007349
|
0.00002
|
|
NM_001184880.2(PCDH19):c.3259C>T (p.Leu1087=)
|
rs373432764
|
0.00002
|
|
NM_001184880.2(PCDH19):c.390G>A (p.Pro130=)
|
rs775408951
|
0.00002
|
|
NM_001184880.2(PCDH19):c.39C>T (p.Ala13=)
|
rs773244265
|
0.00002
|
|
NM_001184880.2(PCDH19):c.798C>T (p.Asp266=)
|
rs369638371
|
0.00002
|
|
NM_001184880.2(PCDH19):c.858C>T (p.Arg286=)
|
rs779759129
|
0.00002
|
|
NM_001184880.2(PCDH19):c.894C>T (p.Val298=)
|
rs1362026055
|
0.00002
|
|
NM_001184880.2(PCDH19):c.915C>T (p.Asp305=)
|
rs1381662261
|
0.00002
|
|
NM_001191061.2(SLC25A22):c.147-5C>T
|
rs755769739
|
0.00002
|
|
NM_001191061.2(SLC25A22):c.294-10C>T
|
rs751196462
|
0.00002
|
|
NM_001191061.2(SLC25A22):c.294-7A>C
|
rs762588496
|
0.00002
|
|
NM_001191061.2(SLC25A22):c.453G>A (p.Ser151=)
|
rs559239495
|
0.00002
|
|
NM_001191061.2(SLC25A22):c.519G>T (p.Leu173=)
|
rs761180722
|
0.00002
|
|
NM_001191061.2(SLC25A22):c.529C>T (p.Leu177=)
|
rs757171068
|
0.00002
|
|
NM_001191061.2(SLC25A22):c.54C>T (p.Ala18=)
|
rs950168213
|
0.00002
|
|
NM_001191061.2(SLC25A22):c.587+14G>A
|
rs754046647
|
0.00002
|
|
NM_001191061.2(SLC25A22):c.657C>T (p.Ser219=)
|
rs200830331
|
0.00002
|
|
NM_001191061.2(SLC25A22):c.681G>A (p.Val227=)
|
rs376895051
|
0.00002
|
|
NM_001191061.2(SLC25A22):c.818+15C>T
|
rs201177114
|
0.00002
|
|
NM_001191061.2(SLC25A22):c.849C>T (p.Ala283=)
|
rs1429166947
|
0.00002
|
|
NM_001199107.2(TBC1D24):c.1015A>G (p.Asn339Asp)
|
rs574768683
|
0.00002
|
|
NM_001199107.2(TBC1D24):c.102A>G (p.Glu34=)
|
rs1178639246
|
0.00002
|
|
NM_001199107.2(TBC1D24):c.1071C>T (p.Val357=)
|
rs760897479
|
0.00002
|
|
NM_001199107.2(TBC1D24):c.1281C>T (p.Thr427=)
|
rs200089341
|
0.00002
|
|
NM_001199107.2(TBC1D24):c.1350C>T (p.Pro450=)
|
rs375320196
|
0.00002
|
|
NM_001199107.2(TBC1D24):c.1467C>T (p.Asn489=)
|
rs779963634
|
0.00002
|
|
NM_001199107.2(TBC1D24):c.1525+16C>T
|
rs754724498
|
0.00002
|
|
NM_001199107.2(TBC1D24):c.198G>A (p.Thr66=)
|
rs373088306
|
0.00002
|
|
NM_001199107.2(TBC1D24):c.213C>T (p.Ala71=)
|
rs778212970
|
0.00002
|
|
NM_001199107.2(TBC1D24):c.231C>T (p.Ile77=)
|
rs375578380
|
0.00002
|
|
NM_001199107.2(TBC1D24):c.273G>A (p.Pro91=)
|
rs762804146
|
0.00002
|
|
NM_001199107.2(TBC1D24):c.297G>A (p.Thr99=)
|
rs767766165
|
0.00002
|
|
NM_001199107.2(TBC1D24):c.333G>A (p.Glu111=)
|
rs749237671
|
0.00002
|
|
NM_001199107.2(TBC1D24):c.405G>A (p.Pro135=)
|
rs778663250
|
0.00002
|
|
NM_001199107.2(TBC1D24):c.855G>T (p.Leu285=)
|
rs769201984
|
0.00002
|
|
NM_001199107.2(TBC1D24):c.870C>T (p.Phe290=)
|
rs770453630
|
0.00002
|
|
NM_001199107.2(TBC1D24):c.87C>T (p.Cys29=)
|
rs768933496
|
0.00002
|
|
NM_001271.4(CHD2):c.1161G>A (p.Lys387=)
|
rs756485685
|
0.00002
|
|
NM_001271.4(CHD2):c.1215G>A (p.Pro405=)
|
rs144294063
|
0.00002
|
|
NM_001271.4(CHD2):c.1242A>G (p.Leu414=)
|
rs749255095
|
0.00002
|
|
NM_001271.4(CHD2):c.2091T>A (p.Leu697=)
|
rs770949083
|
0.00002
|
|
NM_001271.4(CHD2):c.225C>G (p.Ser75=)
|
rs144667627
|
0.00002
|
|
NM_001271.4(CHD2):c.2395C>T (p.Leu799=)
|
rs369618673
|
0.00002
|
|
NM_001271.4(CHD2):c.2565A>G (p.Ala855=)
|
rs892314237
|
0.00002
|
|
NM_001271.4(CHD2):c.2577+20G>C
|
rs771629875
|
0.00002
|
|
NM_001271.4(CHD2):c.2757G>A (p.Gly919=)
|
rs754006955
|
0.00002
|
|
NM_001271.4(CHD2):c.2974-16G>C
|
rs990532473
|
0.00002
|
|
NM_001271.4(CHD2):c.3744A>G (p.Leu1248=)
|
rs778897064
|
0.00002
|
|
NM_001271.4(CHD2):c.4034G>C (p.Arg1345Pro)
|
rs751507887
|
0.00002
|
|
NM_001271.4(CHD2):c.4098T>G (p.Pro1366=)
|
rs1478793992
|
0.00002
|
|
NM_001271.4(CHD2):c.4165A>C (p.Lys1389Gln)
|
rs762950368
|
0.00002
|
|
NM_001271.4(CHD2):c.4592+20C>G
|
rs377002260
|
0.00002
|
|
NM_001271.4(CHD2):c.4599A>G (p.Leu1533=)
|
rs150640503
|
0.00002
|
|
NM_001271.4(CHD2):c.4668T>C (p.His1556=)
|
rs749555682
|
0.00002
|
|
NM_001271.4(CHD2):c.4693-19G>A
|
rs764154165
|
0.00002
|
|
NM_001271.4(CHD2):c.4710C>T (p.Asp1570=)
|
rs756273030
|
0.00002
|
|
NM_001271.4(CHD2):c.4764G>A (p.Arg1588=)
|
rs762849098
|
0.00002
|
|
NM_001271.4(CHD2):c.4832C>T (p.Ser1611Phe)
|
rs893203290
|
0.00002
|
|
NM_001271.4(CHD2):c.4941C>T (p.Asn1647=)
|
rs1161487399
|
0.00002
|
|
NM_001271.4(CHD2):c.5073C>T (p.Pro1691=)
|
rs754504518
|
0.00002
|
|
NM_001271.4(CHD2):c.5154-13A>G
|
rs747116554
|
0.00002
|
|
NM_001271.4(CHD2):c.5229A>G (p.Arg1743=)
|
rs773814385
|
0.00002
|
|
NM_001271.4(CHD2):c.5370C>T (p.Pro1790=)
|
rs756324303
|
0.00002
|
|
NM_001271.4(CHD2):c.5391C>T (p.His1797=)
|
rs755395580
|
0.00002
|
|
NM_001271.4(CHD2):c.63-15C>G
|
rs372471036
|
0.00002
|
|
NM_001271.4(CHD2):c.699A>G (p.Lys233=)
|
rs201178956
|
0.00002
|
|
NM_001271.4(CHD2):c.827-17A>T
|
rs765907918
|
0.00002
|
|
NM_001271.4(CHD2):c.843T>C (p.Thr281=)
|
rs752429913
|
0.00002
|
|
NM_001271.4(CHD2):c.87G>A (p.Ser29=)
|
rs560296130
|
0.00002
|
|
NM_001323289.2(CDKL5):c.1080C>T (p.Leu360=)
|
rs911838999
|
0.00002
|
|
NM_001323289.2(CDKL5):c.145+12T>G
|
rs1394726020
|
0.00002
|
|
NM_001323289.2(CDKL5):c.1476G>A (p.Leu492=)
|
rs1458249124
|
0.00002
|
|
NM_001323289.2(CDKL5):c.1616G>C (p.Arg539Thr)
|
rs1356745875
|
0.00002
|
|
NM_001323289.2(CDKL5):c.1701G>A (p.Thr567=)
|
rs751738489
|
0.00002
|
|
NM_001323289.2(CDKL5):c.1711T>C (p.Leu571=)
|
rs755177112
|
0.00002
|
|
NM_001323289.2(CDKL5):c.1910C>G (p.Ala637Gly)
|
rs750727784
|
0.00002
|
|
NM_001323289.2(CDKL5):c.1968G>A (p.Glu656=)
|
rs1451908414
|
0.00002
|
|
NM_001323289.2(CDKL5):c.2152+15G>A
|
rs1441325648
|
0.00002
|
|
NM_001323289.2(CDKL5):c.2408C>T (p.Thr803Met)
|
rs1005844306
|
0.00002
|
|
NM_001323289.2(CDKL5):c.2487G>A (p.Leu829=)
|
rs1467875005
|
0.00002
|
|
NM_001323289.2(CDKL5):c.2572C>T (p.Arg858Cys)
|
rs773760466
|
0.00002
|
|
NM_001330260.2(SCN8A):c.1329G>A (p.Gln443=)
|
rs1394886694
|
0.00002
|
|
NM_001330260.2(SCN8A):c.1350G>A (p.Ala450=)
|
rs779130227
|
0.00002
|
|
NM_001330260.2(SCN8A):c.1818G>C (p.Arg606=)
|
rs777424314
|
0.00002
|
|
NM_001330260.2(SCN8A):c.2067C>G (p.Ala689=)
|
rs773463881
|
0.00002
|
|
NM_001330260.2(SCN8A):c.2073C>T (p.Tyr691=)
|
rs146982102
|
0.00002
|
|
NM_001330260.2(SCN8A):c.2159C>T (p.Pro720Leu)
|
rs373603736
|
0.00002
|
|
NM_001330260.2(SCN8A):c.2448T>C (p.Gly816=)
|
rs545621709
|
0.00002
|
|
NM_001330260.2(SCN8A):c.2616G>T (p.Val872=)
|
rs778358285
|
0.00002
|
|
NM_001330260.2(SCN8A):c.288A>G (p.Val96=)
|
rs761884033
|
0.00002
|
|
NM_001330260.2(SCN8A):c.2902-19T>C
|
rs1424387561
|
0.00002
|
|
NM_001330260.2(SCN8A):c.2979A>G (p.Glu993=)
|
rs1454483862
|
0.00002
|
|
NM_001330260.2(SCN8A):c.3102G>A (p.Leu1034=)
|
rs912679379
|
0.00002
|
|
NM_001330260.2(SCN8A):c.3219C>T (p.Ser1073=)
|
rs771098374
|
0.00002
|
|
NM_001330260.2(SCN8A):c.3480C>T (p.Cys1160=)
|
rs760251864
|
0.00002
|
|
NM_001330260.2(SCN8A):c.3528C>T (p.Ile1176=)
|
rs369453843
|
0.00002
|
|
NM_001330260.2(SCN8A):c.3639C>T (p.Gly1213=)
|
rs113227803
|
0.00002
|
|
NM_001330260.2(SCN8A):c.3643C>T (p.Leu1215=)
|
rs532528307
|
0.00002
|
|
NM_001330260.2(SCN8A):c.4005C>T (p.Leu1335=)
|
rs1030141528
|
0.00002
|
|
NM_001330260.2(SCN8A):c.4206A>T (p.Gly1402=)
|
rs762625933
|
0.00002
|
|
NM_001330260.2(SCN8A):c.420C>T (p.Cys140=)
|
rs763742447
|
0.00002
|
|
NM_001330260.2(SCN8A):c.4359C>T (p.Phe1453=)
|
rs746544103
|
0.00002
|
|
NM_001330260.2(SCN8A):c.4413G>A (p.Lys1471=)
|
rs776485215
|
0.00002
|
|
NM_001330260.2(SCN8A):c.4524+12G>T
|
rs370931597
|
0.00002
|
|
NM_001330260.2(SCN8A):c.4953G>T (p.Leu1651=)
|
rs1169917584
|
0.00002
|
|
NM_001330260.2(SCN8A):c.5151C>T (p.Arg1717=)
|
rs368067079
|
0.00002
|
|
NM_001330260.2(SCN8A):c.5649C>T (p.Tyr1883=)
|
rs769484993
|
0.00002
|
|
NM_001330260.2(SCN8A):c.624A>G (p.Thr208=)
|
rs776597416
|
0.00002
|
|
NM_001330260.2(SCN8A):c.654G>A (p.Ala218=)
|
rs762033775
|
0.00002
|
|
NM_001330260.2(SCN8A):c.706+9A>T
|
rs1428314992
|
0.00002
|
|
NM_001330260.2(SCN8A):c.810G>A (p.Leu270=)
|
rs377606066
|
0.00002
|
|
NM_001330260.2(SCN8A):c.814C>T (p.Leu272=)
|
rs769727012
|
0.00002
|
|
NM_001330723.2(SNX27):c.1240-6T>C
|
rs1033947503
|
0.00002
|
|
NM_001330723.2(SNX27):c.234G>A (p.Leu78=)
|
rs763585979
|
0.00002
|
|
NM_001330723.2(SNX27):c.471C>T (p.Tyr157=)
|
rs80102518
|
0.00002
|
|
NM_001330723.2(SNX27):c.69C>T (p.Gly23=)
|
rs752312603
|
0.00002
|
|
NM_001330723.2(SNX27):c.795C>A (p.Ser265=)
|
rs772609394
|
0.00002
|
|
NM_001330723.2(SNX27):c.802-15T>C
|
rs1384108881
|
0.00002
|
|
NM_001330723.2(SNX27):c.802-4C>T
|
rs373727297
|
0.00002
|
|
NM_001353921.2(ARHGEF9):c.1011G>A (p.Gln337=)
|
rs1330960420
|
0.00002
|
|
NM_001353921.2(ARHGEF9):c.1078-19C>T
|
rs1412565246
|
0.00002
|
|
NM_001353921.2(ARHGEF9):c.1293G>A (p.Arg431=)
|
rs782387990
|
0.00002
|
|
NM_001353921.2(ARHGEF9):c.1390+11C>T
|
rs782212638
|
0.00002
|
|
NM_001353921.2(ARHGEF9):c.1452C>T (p.His484=)
|
rs782395885
|
0.00002
|
|
NM_001353921.2(ARHGEF9):c.1479C>T (p.Ile493=)
|
rs781904925
|
0.00002
|
|
NM_001353921.2(ARHGEF9):c.448G>A (p.Glu150Lys)
|
rs782237174
|
0.00002
|
|
NM_001353921.2(ARHGEF9):c.576A>G (p.Leu192=)
|
rs1556389015
|
0.00002
|
|
NM_001353921.2(ARHGEF9):c.815+11G>A
|
rs782246143
|
0.00002
|
|
NM_001367561.1(DOCK7):c.1036-20A>C
|
rs1207068511
|
0.00002
|
|
NM_001367561.1(DOCK7):c.1083A>C (p.Pro361=)
|
rs780562457
|
0.00002
|
|
NM_001367561.1(DOCK7):c.1647C>T (p.Pro549=)
|
rs999735157
|
0.00002
|
|
NM_001367561.1(DOCK7):c.1674T>A (p.Thr558=)
|
rs113362303
|
0.00002
|
|
NM_001367561.1(DOCK7):c.1683-18A>G
|
rs558963888
|
0.00002
|
|
NM_001367561.1(DOCK7):c.237G>A (p.Leu79=)
|
rs146598966
|
0.00002
|
|
NM_001367561.1(DOCK7):c.3046-6T>G
|
rs764276917
|
0.00002
|
|
NM_001367561.1(DOCK7):c.321-19A>G
|
rs1377233150
|
0.00002
|
|
NM_001367561.1(DOCK7):c.3501C>T (p.Asp1167=)
|
rs769995427
|
0.00002
|
|
NM_001367561.1(DOCK7):c.3585T>A (p.Ala1195=)
|
rs1053718426
|
0.00002
|
|
NM_001367561.1(DOCK7):c.3612-11T>A
|
rs369318790
|
0.00002
|
|
NM_001367561.1(DOCK7):c.3843C>T (p.Ser1281=)
|
rs780744272
|
0.00002
|
|
NM_001367561.1(DOCK7):c.3888A>G (p.Thr1296=)
|
rs779996348
|
0.00002
|
|
NM_001367561.1(DOCK7):c.389+19A>G
|
rs1371045527
|
0.00002
|
|
NM_001367561.1(DOCK7):c.3930G>A (p.Thr1310=)
|
rs755514767
|
0.00002
|
|
NM_001367561.1(DOCK7):c.3936+10A>T
|
rs1276772503
|
0.00002
|
|
NM_001367561.1(DOCK7):c.3936+20A>G
|
rs371959349
|
0.00002
|
|
NM_001367561.1(DOCK7):c.4119+11A>C
|
rs371586365
|
0.00002
|
|
NM_001367561.1(DOCK7):c.4119+19A>G
|
rs770810357
|
0.00002
|
|
NM_001367561.1(DOCK7):c.429A>G (p.Leu143=)
|
rs766243416
|
0.00002
|
|
NM_001367561.1(DOCK7):c.4694T>C (p.Ile1565Thr)
|
rs373839094
|
0.00002
|
|
NM_001367561.1(DOCK7):c.5397A>G (p.Lys1799=)
|
rs765957528
|
0.00002
|
|
NM_001367561.1(DOCK7):c.6106-17A>G
|
rs921038032
|
0.00002
|
|
NM_001367561.1(DOCK7):c.6324G>A (p.Leu2108=)
|
rs1473532937
|
0.00002
|
|
NM_001367561.1(DOCK7):c.90T>A (p.Ser30=)
|
rs148653967
|
0.00002
|
|
NM_001958.5(EEF1A2):c.159C>T (p.Ser53=)
|
rs766656421
|
0.00002
|
|
NM_001958.5(EEF1A2):c.477G>A (p.Glu159=)
|
rs768282017
|
0.00002
|
|
NM_001958.5(EEF1A2):c.582C>T (p.Ser194=)
|
rs759785829
|
0.00002
|
|
NM_001958.5(EEF1A2):c.591C>T (p.His197=)
|
rs544191007
|
0.00002
|
|
NM_001958.5(EEF1A2):c.773-15C>T
|
rs780584279
|
0.00002
|
|
NM_001958.5(EEF1A2):c.773-7T>A
|
rs766099866
|
0.00002
|
|
NM_001958.5(EEF1A2):c.783G>A (p.Thr261=)
|
rs370695849
|
0.00002
|
|
NM_002641.4(PIGA):c.438G>C (p.Gly146=)
|
rs143565005
|
0.00002
|
|
NM_002641.4(PIGA):c.616A>G (p.Ile206Val)
|
rs201119959
|
0.00002
|
|
NM_002641.4(PIGA):c.657A>G (p.Pro219=)
|
rs1217291446
|
0.00002
|
|
NM_002641.4(PIGA):c.849-19C>T
|
rs780237513
|
0.00002
|
|
NM_004408.4(DNM1):c.1161G>A (p.Glu387=)
|
rs998519750
|
0.00002
|
|
NM_004408.4(DNM1):c.1197-11C>T
|
rs764285452
|
0.00002
|
|
NM_004408.4(DNM1):c.1197-15G>A
|
rs534677463
|
0.00002
|
|
NM_004408.4(DNM1):c.1380G>C (p.Val460=)
|
rs749564973
|
0.00002
|
|
NM_004408.4(DNM1):c.141G>T (p.Val47=)
|
rs1269297218
|
0.00002
|
|
NM_004408.4(DNM1):c.1423-14A>G
|
rs765225886
|
0.00002
|
|
NM_004408.4(DNM1):c.1558-17G>T
|
rs749222845
|
0.00002
|
|
NM_004408.4(DNM1):c.161+11C>G
|
rs1483670500
|
0.00002
|
|
NM_004408.4(DNM1):c.162-17C>T
|
rs1057524327
|
0.00002
|
|
NM_004408.4(DNM1):c.1755C>T (p.Ile585=)
|
rs759079310
|
0.00002
|
|
NM_004408.4(DNM1):c.1860C>T (p.Phe620=)
|
rs1050799692
|
0.00002
|
|
NM_004408.4(DNM1):c.2133G>A (p.Gln711=)
|
rs1277551348
|
0.00002
|
|
NM_004408.4(DNM1):c.2586C>T (p.Phe862=)
|
rs560349998
|
0.00002
|
|
NM_004408.4(DNM1):c.689-8G>T
|
rs760856978
|
0.00002
|
|
NM_004408.4(DNM1):c.702G>A (p.Val234=)
|
rs754094661
|
0.00002
|
|
NM_004408.4(DNM1):c.850-17C>G
|
rs764505046
|
0.00002
|
|
NM_004974.4(KCNA2):c.1053C>T (p.Ala351=)
|
rs748008112
|
0.00002
|
|
NM_004974.4(KCNA2):c.1450T>C (p.Leu484=)
|
rs139459165
|
0.00002
|
|
NM_004974.4(KCNA2):c.590G>A (p.Gly197Asp)
|
rs752985457
|
0.00002
|
|
NM_004975.4(KCNB1):c.1167G>A (p.Leu389=)
|
rs771768169
|
0.00002
|
|
NM_004975.4(KCNB1):c.1207C>T (p.Leu403=)
|
rs749215518
|
0.00002
|
|
NM_004975.4(KCNB1):c.1335C>T (p.Ile445=)
|
rs368667514
|
0.00002
|
|
NM_004975.4(KCNB1):c.1387A>G (p.Ile463Val)
|
rs777560545
|
0.00002
|
|
NM_004975.4(KCNB1):c.1494C>A (p.Thr498=)
|
rs1483168827
|
0.00002
|
|
NM_004975.4(KCNB1):c.2009G>A (p.Arg670Gln)
|
rs753575587
|
0.00002
|
|
NM_004975.4(KCNB1):c.2058C>T (p.Pro686=)
|
rs908785527
|
0.00002
|
|
NM_004975.4(KCNB1):c.2225C>A (p.Thr742Lys)
|
rs1218107028
|
0.00002
|
|
NM_004975.4(KCNB1):c.2271C>T (p.Asp757=)
|
rs190726852
|
0.00002
|
|
NM_004975.4(KCNB1):c.2351C>T (p.Pro784Leu)
|
rs766596568
|
0.00002
|
|
NM_004975.4(KCNB1):c.2478T>C (p.Ser826=)
|
rs554768897
|
0.00002
|
|
NM_004975.4(KCNB1):c.2516C>T (p.Pro839Leu)
|
rs761070687
|
0.00002
|
|
NM_004975.4(KCNB1):c.513G>A (p.Lys171=)
|
rs762797906
|
0.00002
|
|
NM_004975.4(KCNB1):c.567+11G>C
|
rs772220866
|
0.00002
|
|
NM_004975.4(KCNB1):c.568-20C>T
|
rs934317402
|
0.00002
|
|
NM_004975.4(KCNB1):c.568-7C>T
|
rs958924629
|
0.00002
|
|
NM_004975.4(KCNB1):c.568-9T>C
|
rs771401083
|
0.00002
|
|
NM_004975.4(KCNB1):c.693C>T (p.His231=)
|
rs765195036
|
0.00002
|
|
NM_004975.4(KCNB1):c.96G>A (p.Arg32=)
|
rs781213174
|
0.00002
|
|
NM_004975.4(KCNB1):c.9G>A (p.Ala3=)
|
rs768300586
|
0.00002
|
|
NM_005249.5(FOXG1):c.1341C>T (p.Ala447=)
|
rs200639648
|
0.00002
|
|
NM_005249.5(FOXG1):c.189G>T (p.Pro63=)
|
rs796052451
|
0.00002
|
|
NM_005249.5(FOXG1):c.326C>T (p.Pro109Leu)
|
rs398124203
|
0.00002
|
|
NM_005249.5(FOXG1):c.402G>A (p.Pro134=)
|
rs1418431857
|
0.00002
|
|
NM_005249.5(FOXG1):c.582C>T (p.Ile194=)
|
rs756719183
|
0.00002
|
|
NM_005249.5(FOXG1):c.81G>A (p.Ala27=)
|
rs1199178172
|
0.00002
|
|
NM_006030.4(CACNA2D2):c.1153-16G>A
|
rs757150304
|
0.00002
|
|
NM_006030.4(CACNA2D2):c.1170C>T (p.Ala390=)
|
rs1413955767
|
0.00002
|
|
NM_006030.4(CACNA2D2):c.129G>A (p.Pro43=)
|
rs983143827
|
0.00002
|
|
NM_006030.4(CACNA2D2):c.1302C>T (p.Asp434=)
|
rs587671504
|
0.00002
|
|
NM_006030.4(CACNA2D2):c.1340-10T>C
|
rs943689382
|
0.00002
|
|
NM_006030.4(CACNA2D2):c.1638C>T (p.Asn546=)
|
rs774958851
|
0.00002
|
|
NM_006030.4(CACNA2D2):c.1908-18G>A
|
rs772184939
|
0.00002
|
|
NM_006030.4(CACNA2D2):c.2062C>T (p.Leu688=)
|
rs373347526
|
0.00002
|
|
NM_006030.4(CACNA2D2):c.2085C>T (p.Thr695=)
|
rs758343310
|
0.00002
|
|
NM_006030.4(CACNA2D2):c.2181G>A (p.Thr727=)
|
rs369166288
|
0.00002
|
|
NM_006030.4(CACNA2D2):c.258G>C (p.Arg86=)
|
rs920212073
|
0.00002
|
|
NM_006030.4(CACNA2D2):c.2709+18A>T
|
rs765560727
|
0.00002
|
|
NM_006030.4(CACNA2D2):c.2910C>T (p.Ala970=)
|
rs767405244
|
0.00002
|
|
NM_006030.4(CACNA2D2):c.3099-14C>T
|
rs1014476394
|
0.00002
|
|
NM_006030.4(CACNA2D2):c.3099-4G>A
|
rs1025272956
|
0.00002
|
|
NM_006030.4(CACNA2D2):c.3186G>T (p.Arg1062=)
|
rs373966675
|
0.00002
|
|
NM_006030.4(CACNA2D2):c.3291+13G>A
|
rs752517321
|
0.00002
|
|
NM_006030.4(CACNA2D2):c.3321C>T (p.Ala1107=)
|
rs377531685
|
0.00002
|
|
NM_006030.4(CACNA2D2):c.453G>A (p.Gln151=)
|
rs773956475
|
0.00002
|
|
NM_006030.4(CACNA2D2):c.945C>T (p.Cys315=)
|
rs147958763
|
0.00002
|
|
NM_006279.5(ST3GAL3):c.12G>A (p.Leu4=)
|
rs1034986338
|
0.00002
|
|
NM_006279.5(ST3GAL3):c.447C>T (p.Thr149=)
|
rs146876059
|
0.00002
|
|
NM_006279.5(ST3GAL3):c.537C>T (p.Asp179=)
|
rs201012151
|
0.00002
|
|
NM_006279.5(ST3GAL3):c.564T>C (p.Asn188=)
|
rs138286395
|
0.00002
|
|
NM_006279.5(ST3GAL3):c.594C>T (p.Asp198=)
|
rs199996868
|
0.00002
|
|
NM_006279.5(ST3GAL3):c.630C>T (p.Pro210=)
|
rs763641682
|
0.00002
|
|
NM_006279.5(ST3GAL3):c.744+10C>G
|
rs528505595
|
0.00002
|
|
NM_006279.5(ST3GAL3):c.744+15C>T
|
rs749535087
|
0.00002
|
|
NM_006279.5(ST3GAL3):c.990C>T (p.Asn330=)
|
rs773763812
|
0.00002
|
|
NM_007254.4(PNKP):c.1002C>T (p.Ala334=)
|
rs748042567
|
0.00002
|
|
NM_007254.4(PNKP):c.1030-5C>T
|
rs374745816
|
0.00002
|
|
NM_007254.4(PNKP):c.1095G>A (p.Pro365=)
|
rs139540159
|
0.00002
|
|
NM_007254.4(PNKP):c.1127-7C>T
|
rs772557014
|
0.00002
|
|
NM_007254.4(PNKP):c.1158C>G (p.Leu386=)
|
rs373766090
|
0.00002
|
|
NM_007254.4(PNKP):c.130C>A (p.Arg44=)
|
rs374921362
|
0.00002
|
|
NM_007254.4(PNKP):c.1344C>T (p.Phe448=)
|
rs762529581
|
0.00002
|
|
NM_007254.4(PNKP):c.1386+43G>A
|
rs775229994
|
0.00002
|
|
NM_007254.4(PNKP):c.1471C>T (p.Leu491=)
|
rs779306097
|
0.00002
|
|
NM_007254.4(PNKP):c.1554C>T (p.Phe518=)
|
rs541143958
|
0.00002
|
|
NM_007254.4(PNKP):c.1565G>A (p.Ter522=)
|
rs778165913
|
0.00002
|
|
NM_007254.4(PNKP):c.267G>A (p.Val89=)
|
rs531640505
|
0.00002
|
|
NM_007254.4(PNKP):c.357G>A (p.Pro119=)
|
rs766826936
|
0.00002
|
|
NM_007254.4(PNKP):c.498+15G>A
|
rs765136807
|
0.00002
|
|
NM_007254.4(PNKP):c.588C>T (p.Tyr196=)
|
rs745459391
|
0.00002
|
|
NM_007254.4(PNKP):c.673G>A (p.Gly225Arg)
|
rs144257114
|
0.00002
|
|
NM_007254.4(PNKP):c.687C>T (p.Ala229=)
|
rs776236270
|
0.00002
|
|
NM_007254.4(PNKP):c.937-10C>T
|
rs376801468
|
0.00002
|
|
NM_007254.4(PNKP):c.948C>T (p.Asn316=)
|
rs1173052486
|
0.00002
|
|
NM_014334.4(FRRS1L):c.-58C>T
|
rs1280023187
|
0.00002
|
|
NM_014334.4(FRRS1L):c.309T>C (p.Thr103=)
|
rs552700203
|
0.00002
|
|
NM_014334.4(FRRS1L):c.387G>A (p.Gly129=)
|
rs773843617
|
0.00002
|
|
NM_014334.4(FRRS1L):c.483C>A (p.Ala161=)
|
rs754499375
|
0.00002
|
|
NM_014334.4(FRRS1L):c.603C>T (p.Arg201=)
|
rs1300082493
|
0.00002
|
|
NM_015192.4(PLCB1):c.1009+7A>T
|
rs777208922
|
0.00002
|
|
NM_015192.4(PLCB1):c.1168-17T>A
|
rs756936385
|
0.00002
|
|
NM_015192.4(PLCB1):c.1336-19T>A
|
rs765872972
|
0.00002
|
|
NM_015192.4(PLCB1):c.1431C>T (p.Ser477=)
|
rs758504402
|
0.00002
|
|
NM_015192.4(PLCB1):c.1542C>T (p.Asp514=)
|
rs781714752
|
0.00002
|
|
NM_015192.4(PLCB1):c.1582-8A>G
|
rs775526031
|
0.00002
|
|
NM_015192.4(PLCB1):c.231C>T (p.His77=)
|
rs773937907
|
0.00002
|
|
NM_015192.4(PLCB1):c.2355G>A (p.Thr785=)
|
rs763065886
|
0.00002
|
|
NM_015192.4(PLCB1):c.2382A>G (p.Glu794=)
|
rs762411079
|
0.00002
|
|
NM_015192.4(PLCB1):c.2413+7A>G
|
rs369440734
|
0.00002
|
|
NM_015192.4(PLCB1):c.2916G>A (p.Lys972=)
|
rs751967802
|
0.00002
|
|
NM_015192.4(PLCB1):c.2934G>A (p.Ser978=)
|
rs748740359
|
0.00002
|
|
NM_015192.4(PLCB1):c.2946C>T (p.Ser982=)
|
rs369387650
|
0.00002
|
|
NM_015192.4(PLCB1):c.309C>A (p.Ile103=)
|
rs770498816
|
0.00002
|
|
NM_015192.4(PLCB1):c.3477C>T (p.Leu1159=)
|
rs774970817
|
0.00002
|
|
NM_015192.4(PLCB1):c.518+16A>G
|
rs373931059
|
0.00002
|
|
NM_015192.4(PLCB1):c.816A>G (p.Gln272=)
|
rs773100834
|
0.00002
|
|
NM_015192.4(PLCB1):c.99+20G>A
|
rs540693889
|
0.00002
|
|
NM_015192.4(PLCB1):c.990G>A (p.Ser330=)
|
rs375950955
|
0.00002
|
|
NM_015509.4(NECAP1):c.180C>T (p.Leu60=)
|
rs374460096
|
0.00002
|
|
NM_015509.4(NECAP1):c.196+11C>T
|
rs375832217
|
0.00002
|
|
NM_015509.4(NECAP1):c.383+10G>C
|
rs1465757811
|
0.00002
|
|
NM_015509.4(NECAP1):c.723A>G (p.Ala241=)
|
rs1311591214
|
0.00002
|
|
NM_016373.4(WWOX):c.1057-4C>T
|
rs555716977
|
0.00002
|
|
NM_016373.4(WWOX):c.172+19A>G
|
rs1198975338
|
0.00002
|
|
NM_016373.4(WWOX):c.183C>T (p.Tyr61=)
|
rs759766243
|
0.00002
|
|
NM_016373.4(WWOX):c.210C>T (p.Asn70=)
|
rs762102064
|
0.00002
|
|
NM_016373.4(WWOX):c.414C>T (p.Phe138=)
|
rs767693780
|
0.00002
|
|
NM_016373.4(WWOX):c.453G>A (p.Val151=)
|
rs375649496
|
0.00002
|
|
NM_016373.4(WWOX):c.555T>C (p.Ala185=)
|
rs748722105
|
0.00002
|
|
NM_016373.4(WWOX):c.651C>G (p.Pro217=)
|
rs746893085
|
0.00002
|
|
NM_016373.4(WWOX):c.791+14G>A
|
rs753689854
|
0.00002
|
|
NM_016373.4(WWOX):c.792-6T>G
|
rs771690273
|
0.00002
|
|
NM_016373.4(WWOX):c.792-9A>G
|
rs376320385
|
0.00002
|
|
NM_016373.4(WWOX):c.836G>A (p.Arg279His)
|
rs748534396
|
0.00002
|
|
NM_016373.4(WWOX):c.933C>G (p.Leu311=)
|
rs757508300
|
0.00002
|
|
NM_016373.4(WWOX):c.942C>T (p.Arg314=)
|
rs568012503
|
0.00002
|
|
NM_020708.5(SLC12A5):c.1005C>T (p.Phe335=)
|
rs755725158
|
0.00002
|
|
NM_020708.5(SLC12A5):c.1688+7G>A
|
rs192325760
|
0.00002
|
|
NM_020708.5(SLC12A5):c.1972T>C (p.Leu658=)
|
rs1448280832
|
0.00002
|
|
NM_020708.5(SLC12A5):c.2012+17C>T
|
rs532073254
|
0.00002
|
|
NM_020708.5(SLC12A5):c.2259C>T (p.Gly753=)
|
rs764791575
|
0.00002
|
|
NM_020708.5(SLC12A5):c.2481C>T (p.Asp827=)
|
rs368618520
|
0.00002
|
|
NM_020708.5(SLC12A5):c.2548-17C>T
|
rs1478879529
|
0.00002
|
|
NM_020708.5(SLC12A5):c.2548-9C>T
|
rs766436506
|
0.00002
|
|
NM_020708.5(SLC12A5):c.2841C>T (p.Ala947=)
|
rs574591288
|
0.00002
|
|
NM_020708.5(SLC12A5):c.2967A>G (p.Pro989=)
|
rs1441127714
|
0.00002
|
|
NM_020708.5(SLC12A5):c.297C>A (p.Thr99=)
|
rs776585463
|
0.00002
|
|
NM_020708.5(SLC12A5):c.3003G>A (p.Pro1001=)
|
rs757482980
|
0.00002
|
|
NM_020708.5(SLC12A5):c.3110+18A>C
|
rs202018911
|
0.00002
|
|
NM_020708.5(SLC12A5):c.3259+18T>C
|
rs754552673
|
0.00002
|
|
NM_020708.5(SLC12A5):c.3321C>T (p.Gly1107=)
|
rs1413192522
|
0.00002
|
|
NM_020708.5(SLC12A5):c.438G>A (p.Thr146=)
|
rs1345353699
|
0.00002
|
|
NM_020708.5(SLC12A5):c.612+15G>A
|
rs764677515
|
0.00002
|
|
NM_020822.3(KCNT1):c.1038C>T (p.Phe346=)
|
rs767434859
|
0.00002
|
|
NM_020822.3(KCNT1):c.104C>T (p.Ala35Val)
|
rs772080195
|
0.00002
|
|
NM_020822.3(KCNT1):c.1077A>G (p.Ser359=)
|
rs777409717
|
0.00002
|
|
NM_020822.3(KCNT1):c.1158C>G (p.Leu386=)
|
rs749974440
|
0.00002
|
|
NM_020822.3(KCNT1):c.1201-13G>A
|
rs576149390
|
0.00002
|
|
NM_020822.3(KCNT1):c.1201-14C>T
|
rs767283074
|
0.00002
|
|
NM_020822.3(KCNT1):c.1230G>A (p.Thr410=)
|
rs778178642
|
0.00002
|
|
NM_020822.3(KCNT1):c.1359C>T (p.Cys453=)
|
rs1455107112
|
0.00002
|
|
NM_020822.3(KCNT1):c.147C>T (p.Thr49=)
|
rs751274694
|
0.00002
|
|
NM_020822.3(KCNT1):c.1511-15C>T
|
rs1233580407
|
0.00002
|
|
NM_020822.3(KCNT1):c.1515C>T (p.His505=)
|
rs148302564
|
0.00002
|
|
NM_020822.3(KCNT1):c.1554G>A (p.Ala518=)
|
rs756721305
|
0.00002
|
|
NM_020822.3(KCNT1):c.1563C>T (p.Cys521=)
|
rs377263803
|
0.00002
|
|
NM_020822.3(KCNT1):c.15C>T (p.Asp5=)
|
rs771669111
|
0.00002
|
|
NM_020822.3(KCNT1):c.1619+11C>T
|
rs773278543
|
0.00002
|
|
NM_020822.3(KCNT1):c.16G>A (p.Gly6Arg)
|
rs773874266
|
0.00002
|
|
NM_020822.3(KCNT1):c.1758C>T (p.His586=)
|
rs142760483
|
0.00002
|
|
NM_020822.3(KCNT1):c.1759G>A (p.Ala587Thr)
|
rs144421853
|
0.00002
|
|
NM_020822.3(KCNT1):c.1803G>A (p.Glu601=)
|
rs376892911
|
0.00002
|
|
NM_020822.3(KCNT1):c.1854C>T (p.Ala618=)
|
rs1208098376
|
0.00002
|
|
NM_020822.3(KCNT1):c.1890G>A (p.Glu630=)
|
rs1326023054
|
0.00002
|
|
NM_020822.3(KCNT1):c.1927C>T (p.Arg643Trp)
|
rs532620254
|
0.00002
|
|
NM_020822.3(KCNT1):c.1947G>A (p.Ser649=)
|
rs779903423
|
0.00002
|
|
NM_020822.3(KCNT1):c.2008+9G>T
|
rs375088109
|
0.00002
|
|
NM_020822.3(KCNT1):c.2104G>A (p.Gly702Ser)
|
rs550447485
|
0.00002
|
|
NM_020822.3(KCNT1):c.219G>A (p.Leu73=)
|
rs758602991
|
0.00002
|
|
NM_020822.3(KCNT1):c.2321C>T (p.Ala774Val)
|
rs777479133
|
0.00002
|
|
NM_020822.3(KCNT1):c.2349+20C>T
|
rs375666062
|
0.00002
|
|
NM_020822.3(KCNT1):c.2350-13C>T
|
rs374333732
|
0.00002
|
|
NM_020822.3(KCNT1):c.2403G>A (p.Lys801=)
|
rs761739057
|
0.00002
|
|
NM_020822.3(KCNT1):c.2460A>G (p.Pro820=)
|
rs1219349050
|
0.00002
|
|
NM_020822.3(KCNT1):c.254+10G>C
|
rs772892562
|
0.00002
|
|
NM_020822.3(KCNT1):c.2580G>A (p.Glu860=)
|
rs763685503
|
0.00002
|
|
NM_020822.3(KCNT1):c.2595-8G>A
|
rs779012524
|
0.00002
|
|
NM_020822.3(KCNT1):c.2649G>A (p.Val883=)
|
rs766768602
|
0.00002
|
|
NM_020822.3(KCNT1):c.270C>T (p.Phe90=)
|
rs930841801
|
0.00002
|
|
NM_020822.3(KCNT1):c.2712C>T (p.Asn904=)
|
rs554237279
|
0.00002
|
|
NM_020822.3(KCNT1):c.2730-16C>T
|
rs571787446
|
0.00002
|
|
NM_020822.3(KCNT1):c.2730-3C>T
|
rs1193875216
|
0.00002
|
|
NM_020822.3(KCNT1):c.2895C>T (p.Ala965=)
|
rs776550763
|
0.00002
|
|
NM_020822.3(KCNT1):c.2949C>T (p.Phe983=)
|
rs764574987
|
0.00002
|
|
NM_020822.3(KCNT1):c.3196G>A (p.Val1066Met)
|
rs553389226
|
0.00002
|
|
NM_020822.3(KCNT1):c.3244C>T (p.Arg1082Cys)
|
rs776232246
|
0.00002
|
|
NM_020822.3(KCNT1):c.3247G>A (p.Ala1083Thr)
|
rs917893164
|
0.00002
|
|
NM_020822.3(KCNT1):c.3320G>A (p.Arg1107His)
|
rs756256138
|
0.00002
|
|
NM_020822.3(KCNT1):c.3376C>T (p.Arg1126Trp)
|
rs763400879
|
0.00002
|
|
NM_020822.3(KCNT1):c.3377G>A (p.Arg1126Gln)
|
rs769135500
|
0.00002
|
|
NM_020822.3(KCNT1):c.3380C>T (p.Ala1127Val)
|
rs774589071
|
0.00002
|
|
NM_020822.3(KCNT1):c.3393G>A (p.Glu1131=)
|
rs781111074
|
0.00002
|
|
NM_020822.3(KCNT1):c.3502+10C>T
|
rs771187830
|
0.00002
|
|
NM_020822.3(KCNT1):c.3502G>A (p.Asp1168Asn)
|
rs747317425
|
0.00002
|
|
NM_020822.3(KCNT1):c.3521A>G (p.Gln1174Arg)
|
rs761270493
|
0.00002
|
|
NM_020822.3(KCNT1):c.626G>A (p.Arg209His)
|
rs756952430
|
0.00002
|
|
NM_020822.3(KCNT1):c.762T>C (p.Asn254=)
|
rs1481356544
|
0.00002
|
|
NM_020822.3(KCNT1):c.843C>T (p.Leu281=)
|
rs780294486
|
0.00002
|
|
NM_020822.3(KCNT1):c.852G>A (p.Thr284=)
|
rs773023899
|
0.00002
|
|
NM_020822.3(KCNT1):c.854+14G>A
|
rs367694801
|
0.00002
|
|
NM_020822.3(KCNT1):c.879G>A (p.Glu293=)
|
rs557092185
|
0.00002
|
|
NM_020822.3(KCNT1):c.889G>A (p.Glu297Lys)
|
rs146070496
|
0.00002
|
|
NM_020822.3(KCNT1):c.93C>T (p.Asp31=)
|
rs145033597
|
0.00002
|
|
NM_020822.3(KCNT1):c.951C>T (p.Tyr317=)
|
rs747685419
|
0.00002
|
|
NM_020822.3(KCNT1):c.958G>A (p.Val320Ile)
|
rs773718324
|
0.00002
|
|
NM_020822.3(KCNT1):c.999C>T (p.Ile333=)
|
rs764327750
|
0.00002
|
|
NM_020988.3(GNAO1):c.1014C>T (p.Ala338=)
|
rs369818930
|
0.00002
|
|
NM_020988.3(GNAO1):c.21A>G (p.Ala7=)
|
rs1396370689
|
0.00002
|
|
NM_020988.3(GNAO1):c.252C>T (p.Ile84=)
|
rs756947463
|
0.00002
|
|
NM_020988.3(GNAO1):c.393C>G (p.Leu131=)
|
rs766107260
|
0.00002
|
|
NM_020988.3(GNAO1):c.417G>A (p.Glu139=)
|
rs369305192
|
0.00002
|
|
NM_020988.3(GNAO1):c.543A>G (p.Lys181=)
|
rs761449625
|
0.00002
|
|
NM_020988.3(GNAO1):c.724-20C>T
|
rs774930699
|
0.00002
|
|
NM_020988.3(GNAO1):c.724-4G>A
|
rs373051247
|
0.00002
|
|
NM_020988.3(GNAO1):c.744C>T (p.Leu248=)
|
rs377336410
|
0.00002
|
|
NM_020988.3(GNAO1):c.825T>C (p.Phe275=)
|
rs778172059
|
0.00002
|
|
NM_020988.3(GNAO1):c.903C>T (p.Ala301=)
|
rs543764725
|
0.00002
|
|
NM_020988.3(GNAO1):c.936C>T (p.Asn312=)
|
rs200323041
|
0.00002
|
|
NM_021072.4(HCN1):c.1257A>T (p.Ser419=)
|
rs770306188
|
0.00002
|
|
NM_021072.4(HCN1):c.1497A>G (p.Gly499=)
|
rs142913986
|
0.00002
|
|
NM_021072.4(HCN1):c.1716C>A (p.Val572=)
|
rs769174129
|
0.00002
|
|
NM_021072.4(HCN1):c.2060C>A (p.Thr687Asn)
|
rs748584173
|
0.00002
|
|
NM_021072.4(HCN1):c.2306A>G (p.Lys769Arg)
|
rs773048153
|
0.00002
|
|
NM_021072.4(HCN1):c.2507C>T (p.Pro836Leu)
|
rs368989823
|
0.00002
|
|
NM_021072.4(HCN1):c.2560C>A (p.Arg854=)
|
rs534013981
|
0.00002
|
|
NM_021072.4(HCN1):c.573C>A (p.Ile191=)
|
rs771244051
|
0.00002
|
|
NM_021072.4(HCN1):c.599A>G (p.Asn200Ser)
|
rs374770620
|
0.00002
|
|
NM_021072.4(HCN1):c.75G>T (p.Ala25=)
|
rs990297986
|
0.00002
|
|
NM_021072.4(HCN1):c.795C>A (p.Leu265=)
|
rs775887697
|
0.00002
|
|
NM_031844.3(HNRNPU):c.1395A>G (p.Pro465=)
|
rs761416400
|
0.00002
|
|
NM_031844.3(HNRNPU):c.165C>T (p.Pro55=)
|
rs749296514
|
0.00002
|
|
NM_031844.3(HNRNPU):c.1996T>C (p.Leu666=)
|
rs755861836
|
0.00002
|
|
NM_031844.3(HNRNPU):c.222C>G (p.Leu74=)
|
rs201337749
|
0.00002
|
|
NM_031844.3(HNRNPU):c.2284C>T (p.Arg762Cys)
|
rs540601048
|
0.00002
|
|
NM_031844.3(HNRNPU):c.2350C>G (p.Gln784Glu)
|
rs372614557
|
0.00002
|
|
NM_031844.3(HNRNPU):c.2352+12A>G
|
rs766741192
|
0.00002
|
|
NM_031844.3(HNRNPU):c.2375A>G (p.Asn792Ser)
|
rs748194079
|
0.00002
|
|
NM_031844.3(HNRNPU):c.2425-7C>T
|
rs747537573
|
0.00002
|
|
NM_139058.3(ARX):c.1260T>G (p.Pro420=)
|
rs1057521263
|
0.00002
|
|
NM_139058.3(ARX):c.1272G>A (p.Pro424=)
|
rs398124507
|
0.00002
|
|
NM_139058.3(ARX):c.1281C>T (p.Asp427=)
|
rs587783185
|
0.00002
|
|
NM_139058.3(ARX):c.1448+10A>G
|
rs774033566
|
0.00002
|
|
NM_139058.3(ARX):c.1668C>T (p.Ser556=)
|
rs1281833018
|
0.00002
|
|
NM_139058.3(ARX):c.306G>T (p.Ala102=)
|
rs587783196
|
0.00002
|
|
NM_139058.3(ARX):c.440C>T (p.Ala147Val)
|
rs1048593315
|
0.00002
|
|
NM_139058.3(ARX):c.450C>A (p.Ala150=)
|
rs1410039382
|
0.00002
|
|
NM_139058.3(ARX):c.591C>T (p.Gly197=)
|
rs1200326478
|
0.00002
|
|
NM_139058.3(ARX):c.651G>A (p.Ala217=)
|
rs587783204
|
0.00002
|
|
NM_139058.3(ARX):c.699C>T (p.Asp233=)
|
rs1277580936
|
0.00002
|
|
NM_139058.3(ARX):c.739G>C (p.Asp247His)
|
rs765259012
|
0.00002
|
|
NM_139058.3(ARX):c.832G>A (p.Ala278Thr)
|
rs751858511
|
0.00002
|
|
NM_139318.5(KCNH5):c.136G>A (p.Gly46Ser)
|
rs777644149
|
0.00002
|
|
NM_139318.5(KCNH5):c.1624C>T (p.Arg542Trp)
|
rs543742412
|
0.00002
|
|
NM_139318.5(KCNH5):c.2082T>C (p.Asn694=)
|
rs148060194
|
0.00002
|
|
NM_139318.5(KCNH5):c.2148G>A (p.Gln716=)
|
rs562417762
|
0.00002
|
|
NM_139318.5(KCNH5):c.2244C>T (p.Thr748=)
|
rs140878753
|
0.00002
|
|
NM_139318.5(KCNH5):c.2289G>A (p.Thr763=)
|
rs1286363254
|
0.00002
|
|
NM_139318.5(KCNH5):c.2355G>A (p.Lys785=)
|
rs758116293
|
0.00002
|
|
NM_139318.5(KCNH5):c.2493C>T (p.Val831=)
|
rs142813655
|
0.00002
|
|
NM_139318.5(KCNH5):c.2829G>A (p.Ser943=)
|
rs761472576
|
0.00002
|
|
NM_139318.5(KCNH5):c.33G>A (p.Pro11=)
|
rs775018863
|
0.00002
|
|
NM_139318.5(KCNH5):c.765C>T (p.Asp255=)
|
rs150295358
|
0.00002
|
|
NM_152743.4(BRAT1):c.1146T>A (p.Pro382=)
|
rs763005854
|
0.00002
|
|
NM_152743.4(BRAT1):c.1152G>A (p.Pro384=)
|
rs185653171
|
0.00002
|
|
NM_152743.4(BRAT1):c.1272G>A (p.Arg424=)
|
rs755111152
|
0.00002
|
|
NM_152743.4(BRAT1):c.1311A>G (p.Ser437=)
|
rs746938000
|
0.00002
|
|
NM_152743.4(BRAT1):c.1557C>T (p.Ser519=)
|
rs771294370
|
0.00002
|
|
NM_152743.4(BRAT1):c.1598-14G>A
|
rs1199540927
|
0.00002
|
|
NM_152743.4(BRAT1):c.1635G>A (p.Glu545=)
|
rs770815553
|
0.00002
|
|
NM_152743.4(BRAT1):c.1716G>A (p.Leu572=)
|
rs568468610
|
0.00002
|
|
NM_152743.4(BRAT1):c.1833G>A (p.Ala611=)
|
rs769026566
|
0.00002
|
|
NM_152743.4(BRAT1):c.1875C>T (p.Ala625=)
|
rs560003607
|
0.00002
|
|
NM_152743.4(BRAT1):c.1902C>T (p.Phe634=)
|
rs1295415713
|
0.00002
|
|
NM_152743.4(BRAT1):c.1953C>T (p.Arg651=)
|
rs760319281
|
0.00002
|
|
NM_152743.4(BRAT1):c.1962C>A (p.Gly654=)
|
rs778520339
|
0.00002
|
|
NM_152743.4(BRAT1):c.2088C>T (p.Cys696=)
|
rs369595259
|
0.00002
|
|
NM_152743.4(BRAT1):c.2226C>T (p.Ser742=)
|
rs746172037
|
0.00002
|
|
NM_152743.4(BRAT1):c.2244A>G (p.Ala748=)
|
rs369152767
|
0.00002
|
|
NM_152743.4(BRAT1):c.282+8T>G
|
rs1050231334
|
0.00002
|
|
NM_152743.4(BRAT1):c.372C>T (p.Ile124=)
|
rs1307608660
|
0.00002
|
|
NM_152743.4(BRAT1):c.431-6A>C
|
rs770419973
|
0.00002
|
|
NM_152743.4(BRAT1):c.669G>A (p.Thr223=)
|
rs781646381
|
0.00002
|
|
NM_152743.4(BRAT1):c.672C>G (p.Thr224=)
|
rs373177343
|
0.00002
|
|
NM_152743.4(BRAT1):c.708G>A (p.Leu236=)
|
rs1451298376
|
0.00002
|
|
NM_152743.4(BRAT1):c.741G>A (p.Leu247=)
|
rs757846729
|
0.00002
|
|
NM_152743.4(BRAT1):c.803+12G>A
|
rs886231445
|
0.00002
|
|
NM_152743.4(BRAT1):c.822T>C (p.Ser274=)
|
rs371711348
|
0.00002
|
|
NM_152743.4(BRAT1):c.852G>A (p.Ala284=)
|
rs767671540
|
0.00002
|
|
NM_172107.4(KCNQ2):c.1044C>T (p.Ala348=)
|
rs749122254
|
0.00002
|
|
NM_172107.4(KCNQ2):c.1056G>A (p.Ser352=)
|
rs769146180
|
0.00002
|
|
NM_172107.4(KCNQ2):c.1233G>A (p.Pro411=)
|
rs757596960
|
0.00002
|
|
NM_172107.4(KCNQ2):c.1260G>A (p.Pro420=)
|
rs1202103328
|
0.00002
|
|
NM_172107.4(KCNQ2):c.1525+12C>T
|
rs767442522
|
0.00002
|
|
NM_172107.4(KCNQ2):c.1526-4C>T
|
rs1396502704
|
0.00002
|
|
NM_172107.4(KCNQ2):c.1572C>T (p.Pro524=)
|
rs779813699
|
0.00002
|
|
NM_172107.4(KCNQ2):c.1587C>T (p.Thr529=)
|
rs753417293
|
0.00002
|
|
NM_172107.4(KCNQ2):c.1605C>T (p.Gly535=)
|
rs767958822
|
0.00002
|
|
NM_172107.4(KCNQ2):c.1631+19C>T
|
rs770084619
|
0.00002
|
|
NM_172107.4(KCNQ2):c.1726C>T (p.Leu576=)
|
rs745406707
|
0.00002
|
|
NM_172107.4(KCNQ2):c.1776C>T (p.Ile592=)
|
rs201868078
|
0.00002
|
|
NM_172107.4(KCNQ2):c.1842C>T (p.Pro614=)
|
rs552807375
|
0.00002
|
|
NM_172107.4(KCNQ2):c.1998G>A (p.Pro666=)
|
rs777059029
|
0.00002
|
|
NM_172107.4(KCNQ2):c.2004G>A (p.Pro668=)
|
rs771807099
|
0.00002
|
|
NM_172107.4(KCNQ2):c.2316G>A (p.Pro772=)
|
rs587780367
|
0.00002
|
|
NM_172107.4(KCNQ2):c.2523C>T (p.Thr841=)
|
rs760979156
|
0.00002
|
|
NM_172107.4(KCNQ2):c.441C>T (p.Ala147=)
|
rs150930894
|
0.00002
|
|
NM_172107.4(KCNQ2):c.531C>T (p.Ile177=)
|
rs1170316817
|
0.00002
|
|
NM_172107.4(KCNQ2):c.552C>T (p.Ala184=)
|
rs764119402
|
0.00002
|
|
NM_172107.4(KCNQ2):c.681C>T (p.Ala227=)
|
rs1472366685
|
0.00002
|
|
NM_172107.4(KCNQ2):c.691-13G>A
|
rs547887704
|
0.00002
|
|
NM_172107.4(KCNQ2):c.745C>T (p.Leu249=)
|
rs759151870
|
0.00002
|
|
NM_172107.4(KCNQ2):c.855C>G (p.Pro285=)
|
rs746960988
|
0.00002
|
|
NM_172107.4(KCNQ2):c.867C>T (p.Asn289=)
|
rs749934609
|
0.00002
|
|
NM_172107.4(KCNQ2):c.900C>T (p.Ile300=)
|
rs764404303
|
0.00002
|
|
NM_173354.5(SIK1):c.1068C>T (p.Pro356=)
|
rs776984333
|
0.00002
|
|
NM_173354.5(SIK1):c.1246-7A>G
|
rs199838835
|
0.00002
|
|
NM_173354.5(SIK1):c.1539G>A (p.Ala513=)
|
rs370071213
|
0.00002
|
|
NM_173354.5(SIK1):c.1698C>A (p.Val566=)
|
rs777284773
|
0.00002
|
|
NM_173354.5(SIK1):c.1734A>C (p.Ser578=)
|
rs757586795
|
0.00002
|
|
NM_173354.5(SIK1):c.1744+13C>T
|
rs371523952
|
0.00002
|
|
NM_173354.5(SIK1):c.1746G>T (p.Gly582=)
|
rs527940225
|
0.00002
|
|
NM_173354.5(SIK1):c.2034G>T (p.Gln678His)
|
rs775749558
|
0.00002
|
|
NM_173354.5(SIK1):c.2193C>T (p.His731=)
|
rs745398672
|
0.00002
|
|
NM_173354.5(SIK1):c.300C>T (p.Tyr100=)
|
rs147156765
|
0.00002
|
|
NM_173354.5(SIK1):c.338-15T>C
|
rs761757716
|
0.00002
|
|
NM_173354.5(SIK1):c.379C>T (p.Arg127Trp)
|
rs748660297
|
0.00002
|
|
NM_173354.5(SIK1):c.499+14G>A
|
rs780514021
|
0.00002
|
|
NM_173354.5(SIK1):c.690G>A (p.Pro230=)
|
rs769785714
|
0.00002
|
|
NM_173354.5(SIK1):c.748+18G>A
|
rs540350444
|
0.00002
|
|
NM_173354.5(SIK1):c.748+9T>A
|
rs532539559
|
0.00002
|
|
NM_173354.5(SIK1):c.789C>T (p.Pro263=)
|
rs755259558
|
0.00002
|
|
NM_173354.5(SIK1):c.798C>T (p.Arg266=)
|
rs773060642
|
0.00002
|
|
NM_173354.5(SIK1):c.870C>T (p.Pro290=)
|
rs768137586
|
0.00002
|
|
NM_173354.5(SIK1):c.984C>T (p.Asn328=)
|
rs771156923
|
0.00002
|
|
NM_173728.4(ARHGEF15):c.1560C>T (p.Thr520=)
|
rs1169737002
|
0.00002
|
|
NM_173728.4(ARHGEF15):c.1575-9C>T
|
rs1293683804
|
0.00002
|
|
NM_173728.4(ARHGEF15):c.1710C>A (p.Ile570=)
|
rs1191886010
|
0.00002
|
|
NM_173728.4(ARHGEF15):c.183C>T (p.Ile61=)
|
rs542926076
|
0.00002
|
|
NM_173728.4(ARHGEF15):c.1872+8G>A
|
rs770664122
|
0.00002
|
|
NM_173728.4(ARHGEF15):c.1990C>T (p.Leu664=)
|
rs775010360
|
0.00002
|
|
NM_173728.4(ARHGEF15):c.2418G>T (p.Val806=)
|
rs777007358
|
0.00002
|
|
NM_173728.4(ARHGEF15):c.375G>T (p.Gly125=)
|
rs757098576
|
0.00002
|
|
NM_173728.4(ARHGEF15):c.531G>A (p.Ala177=)
|
rs926331333
|
0.00002
|
|
NM_177550.5(SLC13A5):c.1055+15C>A
|
rs764186836
|
0.00002
|
|
NM_177550.5(SLC13A5):c.1179C>T (p.Pro393=)
|
rs755751249
|
0.00002
|
|
NM_177550.5(SLC13A5):c.1275+7T>C
|
rs537439213
|
0.00002
|
|
NM_177550.5(SLC13A5):c.1438-20G>A
|
rs1329698702
|
0.00002
|
|
NM_177550.5(SLC13A5):c.1438-4G>A
|
rs901014442
|
0.00002
|
|
NM_177550.5(SLC13A5):c.232-15C>T
|
rs199904860
|
0.00002
|
|
NM_177550.5(SLC13A5):c.313C>T (p.Leu105=)
|
rs765334582
|
0.00002
|
|
NM_177550.5(SLC13A5):c.368+8C>T
|
rs754086132
|
0.00002
|
|
NM_177550.5(SLC13A5):c.390C>T (p.Gly130=)
|
rs371499002
|
0.00002
|
|
NM_177550.5(SLC13A5):c.471G>A (p.Gln157=)
|
rs367895721
|
0.00002
|
|
NM_177550.5(SLC13A5):c.675C>T (p.Thr225=)
|
rs766223341
|
0.00002
|
|
NM_177550.5(SLC13A5):c.744G>C (p.Val248=)
|
rs755035537
|
0.00002
|
|
NM_177550.5(SLC13A5):c.771C>T (p.Ala257=)
|
rs1042746956
|
0.00002
|
|
NM_203446.3(SYNJ1):c.*148A>C
|
rs777068962
|
0.00002
|
|
NM_203446.3(SYNJ1):c.*720T>C
|
rs1016040846
|
0.00002
|
|
NM_203446.3(SYNJ1):c.*762G>A
|
rs763042220
|
0.00002
|
|
NM_203446.3(SYNJ1):c.*9A>G
|
rs758118019
|
0.00002
|
|
NM_203446.3(SYNJ1):c.-49A>G
|
rs780877494
|
0.00002
|
|
NM_203446.3(SYNJ1):c.-64C>T
|
rs869206401
|
0.00002
|
|
NM_203446.3(SYNJ1):c.-73C>G
|
rs772641102
|
0.00002
|
|
NM_203446.3(SYNJ1):c.1176T>C (p.Ser392=)
|
rs779977140
|
0.00002
|
|
NM_203446.3(SYNJ1):c.1566G>A (p.Glu522=)
|
rs1314584710
|
0.00002
|
|
NM_203446.3(SYNJ1):c.1707T>G (p.Ala569=)
|
rs1384171922
|
0.00002
|
|
NM_203446.3(SYNJ1):c.1959T>G (p.Val653=)
|
rs747138067
|
0.00002
|
|
NM_203446.3(SYNJ1):c.2025A>G (p.Arg675=)
|
rs987102051
|
0.00002
|
|
NM_203446.3(SYNJ1):c.2145+13T>C
|
rs779562990
|
0.00002
|
|
NM_203446.3(SYNJ1):c.2352T>C (p.Tyr784=)
|
rs766117241
|
0.00002
|
|
NM_203446.3(SYNJ1):c.2373C>T (p.Asp791=)
|
rs374390032
|
0.00002
|
|
NM_203446.3(SYNJ1):c.2715A>G (p.Pro905=)
|
rs771107718
|
0.00002
|
|
NM_203446.3(SYNJ1):c.2844C>T (p.Ala948=)
|
rs1432339434
|
0.00002
|
|
NM_203446.3(SYNJ1):c.2958T>C (p.Ile986=)
|
rs879835661
|
0.00002
|
|
NM_203446.3(SYNJ1):c.3327G>A (p.Pro1109=)
|
rs1436978655
|
0.00002
|
|
NM_203446.3(SYNJ1):c.3633C>T (p.His1211=)
|
rs771394723
|
0.00002
|
|
NM_203446.3(SYNJ1):c.3636G>A (p.Ala1212=)
|
rs576444776
|
0.00002
|
|
NM_203446.3(SYNJ1):c.3693G>A (p.Ser1231=)
|
rs755437097
|
0.00002
|
|
NM_203446.3(SYNJ1):c.3732G>A (p.Gln1244=)
|
rs765653482
|
0.00002
|
|
NM_203446.3(SYNJ1):c.3807A>C (p.Ala1269=)
|
rs759164699
|
0.00002
|
|
NM_203446.3(SYNJ1):c.41A>G (p.Asp14Gly)
|
rs565807712
|
0.00002
|
|
NM_203446.3(SYNJ1):c.480-18T>G
|
rs1242153000
|
0.00002
|
|
NM_203446.3(SYNJ1):c.684C>T (p.Ala228=)
|
rs376985894
|
0.00002
|
|
NM_203446.3(SYNJ1):c.930G>A (p.Met310Ile)
|
rs749045961
|
0.00002
|
|
NC_000009.12:g.109167253G>T
|
rs1170375441
|
0.00001
|
|
NM_000330.4(RS1):c.184+3124T>C
|
rs776601149
|
0.00001
|
|
NM_000330.4(RS1):c.184+3128G>T
|
rs768289707
|
0.00001
|
|
NM_000330.4(RS1):c.185-3121C>T
|
rs368344738
|
0.00001
|
|
NM_000330.4(RS1):c.185-3161G>C
|
rs1064794669
|
0.00001
|
|
NM_000330.4(RS1):c.326+1114C>T
|
rs369383134
|
0.00001
|
|
NM_000330.4(RS1):c.326+1159C>G
|
rs587783160
|
0.00001
|
|
NM_000330.4(RS1):c.326+1160T>C
|
rs773644857
|
0.00001
|
|
NM_000330.4(RS1):c.326+1190T>C
|
rs371658418
|
0.00001
|
|
NM_000834.5(GRIN2B):c.1011-5T>A
|
rs922830141
|
0.00001
|
|
NM_000834.5(GRIN2B):c.1011G>A (p.Arg337=)
|
rs201867439
|
0.00001
|
|
NM_000834.5(GRIN2B):c.1125+19A>C
|
rs181390006
|
0.00001
|
|
NM_000834.5(GRIN2B):c.1302C>T (p.Val434=)
|
rs758148425
|
0.00001
|
|
NM_000834.5(GRIN2B):c.1377G>T (p.Gly459=)
|
rs779734725
|
0.00001
|
|
NM_000834.5(GRIN2B):c.138C>T (p.Asp46=)
|
rs200527066
|
0.00001
|
|
NM_000834.5(GRIN2B):c.1501-19C>T
|
rs377609698
|
0.00001
|
|
NM_000834.5(GRIN2B):c.1560G>A (p.Ser520=)
|
rs566776310
|
0.00001
|
|
NM_000834.5(GRIN2B):c.1566G>A (p.Val522=)
|
rs1019962975
|
0.00001
|
|
NM_000834.5(GRIN2B):c.1655-5C>T
|
rs148132876
|
0.00001
|
|
NM_000834.5(GRIN2B):c.1671C>T (p.Asp557=)
|
rs187488896
|
0.00001
|
|
NM_000834.5(GRIN2B):c.1938C>T (p.Tyr646=)
|
rs1275673366
|
0.00001
|
|
NM_000834.5(GRIN2B):c.2011-8C>G
|
rs774971411
|
0.00001
|
|
NM_000834.5(GRIN2B):c.2011-8C>T
|
rs774971411
|
0.00001
|
|
NM_000834.5(GRIN2B):c.2103A>G (p.Glu701=)
|
rs1428419292
|
0.00001
|
|
NM_000834.5(GRIN2B):c.2172-19T>G
|
rs1393183189
|
0.00001
|
|
NM_000834.5(GRIN2B):c.2172-8C>T
|
rs751592819
|
0.00001
|
|
NM_000834.5(GRIN2B):c.21C>T (p.Cys7=)
|
rs751673148
|
0.00001
|
|
NM_000834.5(GRIN2B):c.2250C>G (p.Thr750=)
|
rs752150199
|
0.00001
|
|
NM_000834.5(GRIN2B):c.2259T>C (p.Ser753=)
|
rs1165739612
|
0.00001
|
|
NM_000834.5(GRIN2B):c.2497C>G (p.Leu833Val)
|
rs1439435536
|
0.00001
|
|
NM_000834.5(GRIN2B):c.250C>T (p.Arg84Cys)
|
rs1260965687
|
0.00001
|
|
NM_000834.5(GRIN2B):c.2530T>C (p.Trp844Arg)
|
rs138088984
|
0.00001
|
|
NM_000834.5(GRIN2B):c.2561G>T (p.Cys854Phe)
|
rs758762096
|
0.00001
|
|
NM_000834.5(GRIN2B):c.2598+11T>C
|
rs774497797
|
0.00001
|
|
NM_000834.5(GRIN2B):c.2631C>T (p.Ile877=)
|
rs1156368940
|
0.00001
|
|
NM_000834.5(GRIN2B):c.2637G>A (p.Glu879=)
|
rs200754384
|
0.00001
|
|
NM_000834.5(GRIN2B):c.2715C>T (p.Ala905=)
|
rs568858172
|
0.00001
|
|
NM_000834.5(GRIN2B):c.2730C>T (p.Asn910=)
|
rs777288719
|
0.00001
|
|
NM_000834.5(GRIN2B):c.2754G>A (p.Pro918=)
|
rs756487785
|
0.00001
|
|
NM_000834.5(GRIN2B):c.2760C>T (p.Ser920=)
|
rs149157688
|
0.00001
|
|
NM_000834.5(GRIN2B):c.2790C>G (p.Ser930=)
|
rs201085200
|
0.00001
|
|
NM_000834.5(GRIN2B):c.2823C>T (p.Phe941=)
|
rs369299730
|
0.00001
|
|
NM_000834.5(GRIN2B):c.2825C>T (p.Thr942Met)
|
rs200724001
|
0.00001
|
|
NM_000834.5(GRIN2B):c.2847C>T (p.Tyr949=)
|
rs771565713
|
0.00001
|
|
NM_000834.5(GRIN2B):c.2898A>G (p.Val966=)
|
rs1265201296
|
0.00001
|
|
NM_000834.5(GRIN2B):c.2913G>A (p.Gly971=)
|
rs200696950
|
0.00001
|
|
NM_000834.5(GRIN2B):c.2937C>T (p.Asn979=)
|
rs747235156
|
0.00001
|
|
NM_000834.5(GRIN2B):c.294G>A (p.Val98=)
|
rs774096413
|
0.00001
|
|
NM_000834.5(GRIN2B):c.2969G>A (p.Arg990Gln)
|
rs1458162832
|
0.00001
|
|
NM_000834.5(GRIN2B):c.2991C>A (p.Ala997=)
|
rs766092483
|
0.00001
|
|
NM_000834.5(GRIN2B):c.3033C>T (p.Phe1011=)
|
rs200355836
|
0.00001
|
|
NM_000834.5(GRIN2B):c.3081C>A (p.Leu1027=)
|
rs200887288
|
0.00001
|
|
NM_000834.5(GRIN2B):c.3126C>T (p.Phe1042=)
|
rs767114392
|
0.00001
|
|
NM_000834.5(GRIN2B):c.3180C>T (p.Val1060=)
|
rs142071596
|
0.00001
|
|
NM_000834.5(GRIN2B):c.3234C>G (p.Ala1078=)
|
rs1208973440
|
0.00001
|
|
NM_000834.5(GRIN2B):c.33G>A (p.Lys11=)
|
rs199904091
|
0.00001
|
|
NM_000834.5(GRIN2B):c.3492C>T (p.Arg1164=)
|
rs775478008
|
0.00001
|
|
NM_000834.5(GRIN2B):c.3546G>C (p.Gly1182=)
|
rs200166566
|
0.00001
|
|
NM_000834.5(GRIN2B):c.3573C>T (p.Ser1191=)
|
rs1360698391
|
0.00001
|
|
NM_000834.5(GRIN2B):c.360C>T (p.Leu120=)
|
rs377642005
|
0.00001
|
|
NM_000834.5(GRIN2B):c.3621G>A (p.Glu1207=)
|
rs200551241
|
0.00001
|
|
NM_000834.5(GRIN2B):c.3681G>A (p.Thr1227=)
|
rs758736358
|
0.00001
|
|
NM_000834.5(GRIN2B):c.370C>T (p.Leu124=)
|
rs780865592
|
0.00001
|
|
NM_000834.5(GRIN2B):c.3780G>C (p.Leu1260=)
|
rs753005699
|
0.00001
|
|
NM_000834.5(GRIN2B):c.3798G>A (p.Pro1266=)
|
rs754079938
|
0.00001
|
|
NM_000834.5(GRIN2B):c.381C>T (p.His127=)
|
rs200608452
|
0.00001
|
|
NM_000834.5(GRIN2B):c.3838A>G (p.Lys1280Glu)
|
rs772502958
|
0.00001
|
|
NM_000834.5(GRIN2B):c.3855G>A (p.Pro1285=)
|
rs368885091
|
0.00001
|
|
NM_000834.5(GRIN2B):c.3906C>T (p.His1302=)
|
rs764172372
|
0.00001
|
|
NM_000834.5(GRIN2B):c.3981G>A (p.Lys1327=)
|
rs201670483
|
0.00001
|
|
NM_000834.5(GRIN2B):c.4014C>T (p.His1338=)
|
rs758288071
|
0.00001
|
|
NM_000834.5(GRIN2B):c.4086C>T (p.His1362=)
|
rs1411303131
|
0.00001
|
|
NM_000834.5(GRIN2B):c.4089C>T (p.His1363=)
|
rs1411268559
|
0.00001
|
|
NM_000834.5(GRIN2B):c.4092C>T (p.His1364=)
|
rs771307465
|
0.00001
|
|
NM_000834.5(GRIN2B):c.411+9G>A
|
rs199984775
|
0.00001
|
|
NM_000834.5(GRIN2B):c.412-14T>C
|
rs879254251
|
0.00001
|
|
NM_000834.5(GRIN2B):c.4128G>A (p.Ser1376=)
|
rs749867196
|
0.00001
|
|
NM_000834.5(GRIN2B):c.4149G>A (p.Thr1383=)
|
rs201750358
|
0.00001
|
|
NM_000834.5(GRIN2B):c.4215C>T (p.Phe1405=)
|
rs778677489
|
0.00001
|
|
NM_000834.5(GRIN2B):c.4242G>A (p.Ala1414=)
|
rs202227485
|
0.00001
|
|
NM_000834.5(GRIN2B):c.4245G>A (p.Ser1415=)
|
rs150956675
|
0.00001
|
|
NM_000834.5(GRIN2B):c.4257G>A (p.Pro1419=)
|
rs761174489
|
0.00001
|
|
NM_000834.5(GRIN2B):c.4341T>C (p.Cys1447=)
|
rs766970197
|
0.00001
|
|
NM_000834.5(GRIN2B):c.4413G>A (p.Gly1471=)
|
rs202051424
|
0.00001
|
|
NM_000834.5(GRIN2B):c.510T>C (p.Ser170=)
|
rs200442058
|
0.00001
|
|
NM_000834.5(GRIN2B):c.519C>G (p.Thr173=)
|
rs200357530
|
0.00001
|
|
NM_000834.5(GRIN2B):c.609C>T (p.Leu203=)
|
rs746896701
|
0.00001
|
|
NM_000834.5(GRIN2B):c.60C>T (p.Ala20=)
|
rs371566007
|
0.00001
|
|
NM_000834.5(GRIN2B):c.612A>G (p.Leu204=)
|
rs1211007071
|
0.00001
|
|
NM_000834.5(GRIN2B):c.625C>T (p.Leu209=)
|
rs1591712558
|
0.00001
|
|
NM_000834.5(GRIN2B):c.631G>A (p.Asp211Asn)
|
rs1295510907
|
0.00001
|
|
NM_000834.5(GRIN2B):c.717C>T (p.Tyr239=)
|
rs759323084
|
0.00001
|
|
NM_000834.5(GRIN2B):c.765G>A (p.Thr255=)
|
rs199844735
|
0.00001
|
|
NM_000834.5(GRIN2B):c.840A>G (p.Val280=)
|
rs752814750
|
0.00001
|
|
NM_000834.5(GRIN2B):c.93C>T (p.Ser31=)
|
rs781344452
|
0.00001
|
|
NM_000834.5(GRIN2B):c.9C>T (p.Pro3=)
|
rs202219447
|
0.00001
|
|
NM_001032221.6(STXBP1):c.1083C>T (p.Thr361=)
|
rs866871870
|
0.00001
|
|
NM_001032221.6(STXBP1):c.1107G>A (p.Glu369=)
|
rs376244106
|
0.00001
|
|
NM_001032221.6(STXBP1):c.1111-8T>C
|
rs1207244961
|
0.00001
|
|
NM_001032221.6(STXBP1):c.1141G>C (p.Glu381Gln)
|
rs762767233
|
0.00001
|
|
NM_001032221.6(STXBP1):c.1250-7C>T
|
rs1323549123
|
0.00001
|
|
NM_001032221.6(STXBP1):c.1256C>T (p.Thr419Met)
|
rs748965227
|
0.00001
|
|
NM_001032221.6(STXBP1):c.1301C>T (p.Pro434Leu)
|
rs773261815
|
0.00001
|
|
NM_001032221.6(STXBP1):c.1331C>T (p.Ala444Val)
|
rs1216426174
|
0.00001
|
|
NM_001032221.6(STXBP1):c.1338C>T (p.Leu446=)
|
rs752950410
|
0.00001
|
|
NM_001032221.6(STXBP1):c.1360-15T>C
|
rs763197862
|
0.00001
|
|
NM_001032221.6(STXBP1):c.1360-7C>T
|
rs895077278
|
0.00001
|
|
NM_001032221.6(STXBP1):c.1365G>A (p.Thr455=)
|
rs767843953
|
0.00001
|
|
NM_001032221.6(STXBP1):c.1373G>A (p.Arg458His)
|
rs796053371
|
0.00001
|
|
NM_001032221.6(STXBP1):c.1375C>T (p.Arg459Trp)
|
rs750968891
|
0.00001
|
|
NM_001032221.6(STXBP1):c.1461+12G>A
|
rs369896782
|
0.00001
|
|
NM_001032221.6(STXBP1):c.1599T>C (p.Ser533=)
|
rs755906740
|
0.00001
|
|
NM_001032221.6(STXBP1):c.1656C>T (p.Cys552=)
|
rs942940725
|
0.00001
|
|
NM_001032221.6(STXBP1):c.1659C>T (p.Ala553=)
|
rs772279866
|
0.00001
|
|
NM_001032221.6(STXBP1):c.169+10C>T
|
rs1060504318
|
0.00001
|
|
NM_001032221.6(STXBP1):c.169+14C>T
|
rs755773785
|
0.00001
|
|
NM_001032221.6(STXBP1):c.1702+1799C>T
|
rs1057523938
|
0.00001
|
|
NM_001032221.6(STXBP1):c.1702+9C>T
|
rs1026137028
|
0.00001
|
|
NM_001032221.6(STXBP1):c.246+12A>G
|
rs770867031
|
0.00001
|
|
NM_001032221.6(STXBP1):c.246+8T>C
|
rs746997293
|
0.00001
|
|
NM_001032221.6(STXBP1):c.249C>T (p.Ser83=)
|
rs756273104
|
0.00001
|
|
NM_001032221.6(STXBP1):c.285G>A (p.Pro95=)
|
rs773724420
|
0.00001
|
|
NM_001032221.6(STXBP1):c.309C>T (p.His103=)
|
rs763763696
|
0.00001
|
|
NM_001032221.6(STXBP1):c.326-10A>G
|
rs772431982
|
0.00001
|
|
NM_001032221.6(STXBP1):c.326-16T>C
|
rs1450982335
|
0.00001
|
|
NM_001032221.6(STXBP1):c.429+12T>C
|
rs1057522202
|
0.00001
|
|
NM_001032221.6(STXBP1):c.42T>C (p.Ile14=)
|
rs755497428
|
0.00001
|
|
NM_001032221.6(STXBP1):c.430-7T>G
|
rs981193334
|
0.00001
|
|
NM_001032221.6(STXBP1):c.512G>A (p.Arg171His)
|
rs773211322
|
0.00001
|
|
NM_001032221.6(STXBP1):c.531G>A (p.Ala177=)
|
rs1057520999
|
0.00001
|
|
NM_001032221.6(STXBP1):c.547C>T (p.Leu183=)
|
rs753725349
|
0.00001
|
|
NM_001032221.6(STXBP1):c.558C>T (p.Tyr186=)
|
rs1841140996
|
0.00001
|
|
NM_001032221.6(STXBP1):c.578+11G>T
|
rs201797980
|
0.00001
|
|
NM_001032221.6(STXBP1):c.675G>A (p.Lys225=)
|
rs1554777466
|
0.00001
|
|
NM_001032221.6(STXBP1):c.690C>T (p.Leu230=)
|
rs764186314
|
0.00001
|
|
NM_001032221.6(STXBP1):c.795-14C>T
|
rs754375406
|
0.00001
|
|
NM_001032221.6(STXBP1):c.813C>T (p.Ile271=)
|
rs965524767
|
0.00001
|
|
NM_001032221.6(STXBP1):c.823C>T (p.Arg275Trp)
|
rs780641675
|
0.00001
|
|
NM_001032221.6(STXBP1):c.852C>T (p.Asp284=)
|
rs141782684
|
0.00001
|
|
NM_001032221.6(STXBP1):c.855C>T (p.Asp285=)
|
rs143755818
|
0.00001
|
|
NM_001032221.6(STXBP1):c.856G>A (p.Asp286Asn)
|
rs768644260
|
0.00001
|
|
NM_001032221.6(STXBP1):c.861G>A (p.Leu287=)
|
rs984512975
|
0.00001
|
|
NM_001032221.6(STXBP1):c.876C>T (p.Arg292=)
|
rs778838622
|
0.00001
|
|
NM_001032221.6(STXBP1):c.88-11T>C
|
rs1363749374
|
0.00001
|
|
NM_001032221.6(STXBP1):c.902+10C>T
|
rs760108945
|
0.00001
|
|
NM_001032221.6(STXBP1):c.942G>A (p.Lys314=)
|
rs1257587761
|
0.00001
|
|
NM_001032221.6(STXBP1):c.975G>A (p.Arg325=)
|
rs1376618964
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1032A>G (p.Ala344=)
|
rs778228350
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1034+10G>A
|
rs749778303
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1035-15C>G
|
rs761906987
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1038G>A (p.Gln346=)
|
rs1057522529
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1137T>C (p.Arg379=)
|
rs587781154
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1177-8T>C
|
rs1060504831
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1194G>A (p.Gly398=)
|
rs1436893477
|
0.00001
|
|
NM_001040142.2(SCN2A):c.122G>A (p.Arg41His)
|
rs754993031
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1246C>T (p.Leu416=)
|
rs902180317
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1383+17T>C
|
rs1226775368
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1383+19C>T
|
rs199744298
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1383+20G>A
|
rs567354567
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1384-8C>T
|
rs755754936
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1473T>G (p.Ser491=)
|
rs1427996432
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1542T>C (p.Ser514=)
|
rs780072216
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1578G>A (p.Ser526=)
|
rs141269163
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1613G>A (p.Arg538His)
|
rs761203730
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1623G>A (p.Leu541=)
|
rs753341735
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1846A>G (p.Arg616Gly)
|
rs772896106
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1866C>T (p.His622=)
|
rs377388875
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1904T>C (p.Leu635Pro)
|
rs558887330
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1923T>C (p.Asn641=)
|
rs780183614
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1938C>T (p.Ser646=)
|
rs528391611
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1971C>T (p.Val657=)
|
rs149230197
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1986C>T (p.Thr662=)
|
rs530608927
|
0.00001
|
|
NM_001040142.2(SCN2A):c.2001G>C (p.Gly667=)
|
rs1323805020
|
0.00001
|
|
NM_001040142.2(SCN2A):c.2016+10A>G
|
rs886042771
|
0.00001
|
|
NM_001040142.2(SCN2A):c.2043A>G (p.Arg681=)
|
rs1384019842
|
0.00001
|
|
NM_001040142.2(SCN2A):c.2051G>A (p.Arg684Gln)
|
rs146949852
|
0.00001
|
|
NM_001040142.2(SCN2A):c.2074A>G (p.Met692Val)
|
rs771488290
|
0.00001
|
|
NM_001040142.2(SCN2A):c.2149+16T>C
|
rs767512295
|
0.00001
|
|
NM_001040142.2(SCN2A):c.2149+18C>T
|
rs770481092
|
0.00001
|
|
NM_001040142.2(SCN2A):c.2367T>C (p.Ser789=)
|
rs1181917414
|
0.00001
|
|
NM_001040142.2(SCN2A):c.2389-6A>G
|
rs1370290520
|
0.00001
|
|
NM_001040142.2(SCN2A):c.240T>C (p.Asp80=)
|
rs1327484226
|
0.00001
|
|
NM_001040142.2(SCN2A):c.2499T>C (p.Leu833=)
|
rs1699364670
|
0.00001
|
|
NM_001040142.2(SCN2A):c.2518T>C (p.Leu840=)
|
rs768817318
|
0.00001
|
|
NM_001040142.2(SCN2A):c.2541A>T (p.Ser847=)
|
rs776618474
|
0.00001
|
|
NM_001040142.2(SCN2A):c.255T>C (p.Tyr85=)
|
rs199657941
|
0.00001
|
|
NM_001040142.2(SCN2A):c.2598T>G (p.Thr866=)
|
rs1306050789
|
0.00001
|
|
NM_001040142.2(SCN2A):c.2643A>G (p.Leu881=)
|
rs777805952
|
0.00001
|
|
NM_001040142.2(SCN2A):c.2766C>T (p.Arg922=)
|
rs202006528
|
0.00001
|
|
NM_001040142.2(SCN2A):c.2799G>A (p.Leu933=)
|
rs759837838
|
0.00001
|
|
NM_001040142.2(SCN2A):c.27A>T (p.Pro9=)
|
rs1191664110
|
0.00001
|
|
NM_001040142.2(SCN2A):c.2802C>T (p.Ile934=)
|
rs758408742
|
0.00001
|
|
NM_001040142.2(SCN2A):c.2811C>T (p.Arg937=)
|
rs779791354
|
0.00001
|
|
NM_001040142.2(SCN2A):c.2859C>T (p.Val953=)
|
rs139967593
|
0.00001
|
|
NM_001040142.2(SCN2A):c.2919+16A>G
|
rs1343240110
|
0.00001
|
|
NM_001040142.2(SCN2A):c.3048T>C (p.Phe1016=)
|
rs1231094286
|
0.00001
|
|
NM_001040142.2(SCN2A):c.3084C>T (p.Ala1028=)
|
rs1700076171
|
0.00001
|
|
NM_001040142.2(SCN2A):c.3133C>T (p.Leu1045=)
|
rs369128399
|
0.00001
|
|
NM_001040142.2(SCN2A):c.3210C>T (p.Asp1070=)
|
rs187731029
|
0.00001
|
|
NM_001040142.2(SCN2A):c.3306T>G (p.Thr1102=)
|
rs1246050360
|
0.00001
|
|
NM_001040142.2(SCN2A):c.3318A>G (p.Pro1106=)
|
rs751746800
|
0.00001
|
|
NM_001040142.2(SCN2A):c.3400-7T>C
|
rs1469952990
|
0.00001
|
|
NM_001040142.2(SCN2A):c.3435G>A (p.Thr1145=)
|
rs1345931602
|
0.00001
|
|
NM_001040142.2(SCN2A):c.3454G>A (p.Ala1152Thr)
|
rs766523968
|
0.00001
|
|
NM_001040142.2(SCN2A):c.3530G>A (p.Arg1177Gln)
|
rs773202451
|
0.00001
|
|
NM_001040142.2(SCN2A):c.3549G>A (p.Gln1183=)
|
rs1402203523
|
0.00001
|
|
NM_001040142.2(SCN2A):c.3556A>G (p.Ile1186Val)
|
rs1433862850
|
0.00001
|
|
NM_001040142.2(SCN2A):c.3561A>G (p.Glu1187=)
|
rs1388551340
|
0.00001
|
|
NM_001040142.2(SCN2A):c.3570A>G (p.Lys1190=)
|
rs765597357
|
0.00001
|
|
NM_001040142.2(SCN2A):c.3630C>T (p.Phe1210=)
|
rs371422797
|
0.00001
|
|
NM_001040142.2(SCN2A):c.3675+7G>T
|
rs369008860
|
0.00001
|
|
NM_001040142.2(SCN2A):c.3693C>T (p.Tyr1231=)
|
rs1559395351
|
0.00001
|
|
NM_001040142.2(SCN2A):c.3735T>C (p.Ala1245=)
|
rs527970192
|
0.00001
|
|
NM_001040142.2(SCN2A):c.3789A>G (p.Ala1263=)
|
rs771357111
|
0.00001
|
|
NM_001040142.2(SCN2A):c.3850-9T>C
|
rs1273545144
|
0.00001
|
|
NM_001040142.2(SCN2A):c.3855A>C (p.Ser1285=)
|
rs746426337
|
0.00001
|
|
NM_001040142.2(SCN2A):c.3870T>A (p.Thr1290=)
|
rs1225687118
|
0.00001
|
|
NM_001040142.2(SCN2A):c.4056T>C (p.Ser1352=)
|
rs764921287
|
0.00001
|
|
NM_001040142.2(SCN2A):c.4121T>A (p.Met1374Lys)
|
rs555250264
|
0.00001
|
|
NM_001040142.2(SCN2A):c.4129G>T (p.Val1377Leu)
|
rs1407740477
|
0.00001
|
|
NM_001040142.2(SCN2A):c.4134C>T (p.Ser1378=)
|
rs145465905
|
0.00001
|
|
NM_001040142.2(SCN2A):c.4551+11C>T
|
rs1292269804
|
0.00001
|
|
NM_001040142.2(SCN2A):c.4566A>C (p.Gly1522=)
|
rs1309014295
|
0.00001
|
|
NM_001040142.2(SCN2A):c.4656C>T (p.Thr1552=)
|
rs765041838
|
0.00001
|
|
NM_001040142.2(SCN2A):c.477-13T>C
|
rs973711914
|
0.00001
|
|
NM_001040142.2(SCN2A):c.4818T>C (p.Ile1606=)
|
rs771160474
|
0.00001
|
|
NM_001040142.2(SCN2A):c.4836T>G (p.Ala1612=)
|
rs144133411
|
0.00001
|
|
NM_001040142.2(SCN2A):c.4977G>A (p.Ala1659=)
|
rs1250394077
|
0.00001
|
|
NM_001040142.2(SCN2A):c.5175T>C (p.Asn1725=)
|
rs1428775007
|
0.00001
|
|
NM_001040142.2(SCN2A):c.5289C>T (p.Ser1763=)
|
rs1381791914
|
0.00001
|
|
NM_001040142.2(SCN2A):c.5316C>T (p.Ile1772=)
|
rs946785343
|
0.00001
|
|
NM_001040142.2(SCN2A):c.5319G>A (p.Ala1773=)
|
rs373913233
|
0.00001
|
|
NM_001040142.2(SCN2A):c.5421C>G (p.Pro1807=)
|
rs1457454456
|
0.00001
|
|
NM_001040142.2(SCN2A):c.5427G>A (p.Ala1809=)
|
rs1177406324
|
0.00001
|
|
NM_001040142.2(SCN2A):c.5487T>C (p.Leu1829=)
|
rs1188907234
|
0.00001
|
|
NM_001040142.2(SCN2A):c.5520T>A (p.Ile1840=)
|
rs1279372118
|
0.00001
|
|
NM_001040142.2(SCN2A):c.5544T>C (p.Ser1848=)
|
rs761713186
|
0.00001
|
|
NM_001040142.2(SCN2A):c.5580T>G (p.Ala1860=)
|
rs752845880
|
0.00001
|
|
NM_001040142.2(SCN2A):c.5625T>G (p.Leu1875=)
|
rs374716270
|
0.00001
|
|
NM_001040142.2(SCN2A):c.5658A>C (p.Ser1886=)
|
rs902710874
|
0.00001
|
|
NM_001040142.2(SCN2A):c.5691G>A (p.Thr1897=)
|
rs780700291
|
0.00001
|
|
NM_001040142.2(SCN2A):c.5697G>A (p.Thr1899=)
|
rs746574956
|
0.00001
|
|
NM_001040142.2(SCN2A):c.5733T>C (p.Ile1911=)
|
rs376740497
|
0.00001
|
|
NM_001040142.2(SCN2A):c.5736C>T (p.Ile1912=)
|
rs1324754723
|
0.00001
|
|
NM_001040142.2(SCN2A):c.5761T>C (p.Leu1921=)
|
rs776934629
|
0.00001
|
|
NM_001040142.2(SCN2A):c.5889C>T (p.Thr1963=)
|
rs776509462
|
0.00001
|
|
NM_001040142.2(SCN2A):c.5922G>A (p.Ser1974=)
|
rs1260616318
|
0.00001
|
|
NM_001040142.2(SCN2A):c.783G>C (p.Val261=)
|
rs1250340830
|
0.00001
|
|
NM_001040142.2(SCN2A):c.849A>G (p.Pro283=)
|
rs1697368581
|
0.00001
|
|
NM_001040142.2(SCN2A):c.877A>G (p.Thr293Ala)
|
rs1305687130
|
0.00001
|
|
NM_001040142.2(SCN2A):c.892A>G (p.Asn298Asp)
|
rs754706708
|
0.00001
|
|
NM_001040142.2(SCN2A):c.971-10C>T
|
rs1305298237
|
0.00001
|
|
NM_001040142.2(SCN2A):c.982T>G (p.Phe328Val)
|
rs781204054
|
0.00001
|
|
NM_001099922.3(ALG13):c.1010T>A (p.Leu337Gln)
|
rs1189252877
|
0.00001
|
|
NM_001099922.3(ALG13):c.1029T>C (p.Ser343=)
|
rs772765360
|
0.00001
|
|
NM_001099922.3(ALG13):c.1134A>G (p.Glu378=)
|
rs778696912
|
0.00001
|
|
NM_001099922.3(ALG13):c.114C>T (p.Ile38=)
|
rs1206750653
|
0.00001
|
|
NM_001099922.3(ALG13):c.1164T>C (p.Phe388=)
|
rs1463398527
|
0.00001
|
|
NM_001099922.3(ALG13):c.1182G>A (p.Lys394=)
|
rs1602694246
|
0.00001
|
|
NM_001099922.3(ALG13):c.1217C>T (p.Ala406Val)
|
rs1057522541
|
0.00001
|
|
NM_001099922.3(ALG13):c.1308A>G (p.Lys436=)
|
rs1423402192
|
0.00001
|
|
NM_001099922.3(ALG13):c.1435+12T>C
|
rs1051547008
|
0.00001
|
|
NM_001099922.3(ALG13):c.1729+8T>C
|
rs762562568
|
0.00001
|
|
NM_001099922.3(ALG13):c.172C>T (p.Leu58=)
|
rs765437651
|
0.00001
|
|
NM_001099922.3(ALG13):c.1730-20C>T
|
rs1942098220
|
0.00001
|
|
NM_001099922.3(ALG13):c.1730-7C>T
|
rs750726885
|
0.00001
|
|
NM_001099922.3(ALG13):c.1851C>T (p.His617=)
|
rs1454391584
|
0.00001
|
|
NM_001099922.3(ALG13):c.1869C>T (p.His623=)
|
rs747208594
|
0.00001
|
|
NM_001099922.3(ALG13):c.1896A>T (p.Thr632=)
|
rs1258429433
|
0.00001
|
|
NM_001099922.3(ALG13):c.1921C>G (p.His641Asp)
|
rs760283589
|
0.00001
|
|
NM_001099922.3(ALG13):c.1934A>C (p.Gln645Pro)
|
rs765734812
|
0.00001
|
|
NM_001099922.3(ALG13):c.1947G>A (p.Pro649=)
|
rs758659441
|
0.00001
|
|
NM_001099922.3(ALG13):c.1954G>T (p.Gly652Cys)
|
rs1164687660
|
0.00001
|
|
NM_001099922.3(ALG13):c.2055C>T (p.Cys685=)
|
rs1942191104
|
0.00001
|
|
NM_001099922.3(ALG13):c.2082T>C (p.Tyr694=)
|
rs778640194
|
0.00001
|
|
NM_001099922.3(ALG13):c.2320G>C (p.Gly774Arg)
|
rs1208800822
|
0.00001
|
|
NM_001099922.3(ALG13):c.2368+10T>G
|
rs1556509952
|
0.00001
|
|
NM_001099922.3(ALG13):c.2376T>C (p.Tyr792=)
|
rs776863825
|
0.00001
|
|
NM_001099922.3(ALG13):c.2395C>T (p.Arg799Cys)
|
rs763877039
|
0.00001
|
|
NM_001099922.3(ALG13):c.2434A>G (p.Thr812Ala)
|
rs781178409
|
0.00001
|
|
NM_001099922.3(ALG13):c.245-12T>G
|
rs773672059
|
0.00001
|
|
NM_001099922.3(ALG13):c.245-20A>C
|
rs747784575
|
0.00001
|
|
NM_001099922.3(ALG13):c.2475G>A (p.Lys825=)
|
rs1298792527
|
0.00001
|
|
NM_001099922.3(ALG13):c.2523C>T (p.Pro841=)
|
rs1229717685
|
0.00001
|
|
NM_001099922.3(ALG13):c.2529+11T>C
|
rs773084617
|
0.00001
|
|
NM_001099922.3(ALG13):c.2529+7C>T
|
rs1307752089
|
0.00001
|
|
NM_001099922.3(ALG13):c.2529+9C>T
|
rs771372378
|
0.00001
|
|
NM_001099922.3(ALG13):c.2605G>A (p.Ala869Thr)
|
rs1202237862
|
0.00001
|
|
NM_001099922.3(ALG13):c.2607G>A (p.Ala869=)
|
rs746842727
|
0.00001
|
|
NM_001099922.3(ALG13):c.2695+15G>C
|
rs1057522064
|
0.00001
|
|
NM_001099922.3(ALG13):c.2703C>T (p.Ala901=)
|
rs1190999050
|
0.00001
|
|
NM_001099922.3(ALG13):c.273A>G (p.Glu91=)
|
rs1057522348
|
0.00001
|
|
NM_001099922.3(ALG13):c.2884C>T (p.Pro962Ser)
|
rs1172385892
|
0.00001
|
|
NM_001099922.3(ALG13):c.2913C>T (p.Ser971=)
|
rs1944100964
|
0.00001
|
|
NM_001099922.3(ALG13):c.2944T>C (p.Leu982=)
|
rs759545615
|
0.00001
|
|
NM_001099922.3(ALG13):c.3084C>T (p.Thr1028=)
|
rs758300150
|
0.00001
|
|
NM_001099922.3(ALG13):c.3159G>A (p.Pro1053=)
|
rs1556539037
|
0.00001
|
|
NM_001099922.3(ALG13):c.3225G>A (p.Gly1075=)
|
rs771997156
|
0.00001
|
|
NM_001099922.3(ALG13):c.3261G>A (p.Pro1087=)
|
rs775320246
|
0.00001
|
|
NM_001099922.3(ALG13):c.3264T>C (p.Val1088=)
|
rs762647183
|
0.00001
|
|
NM_001099922.3(ALG13):c.3270A>G (p.Pro1090=)
|
rs1399015543
|
0.00001
|
|
NM_001099922.3(ALG13):c.384-8T>C
|
rs1276902484
|
0.00001
|
|
NM_001099922.3(ALG13):c.426T>C (p.Ala142=)
|
rs759472632
|
0.00001
|
|
NM_001099922.3(ALG13):c.429T>C (p.Pro143=)
|
rs1173829709
|
0.00001
|
|
NM_001099922.3(ALG13):c.456G>A (p.Leu152=)
|
rs762934062
|
0.00001
|
|
NM_001099922.3(ALG13):c.744G>A (p.Ser248=)
|
rs755327837
|
0.00001
|
|
NM_001099922.3(ALG13):c.886-12A>G
|
rs770400535
|
0.00001
|
|
NM_001099922.3(ALG13):c.886-17A>G
|
rs1057523046
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1071T>C (p.Gly357=)
|
rs1240852774
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1143G>A (p.Arg381=)
|
rs762033223
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.117C>T (p.Gly39=)
|
rs374304094
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1209C>T (p.Ile403=)
|
rs559232599
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1230C>T (p.Asp410=)
|
rs751952553
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1256-18A>G
|
rs1369047772
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.130G>A (p.Ala44Thr)
|
rs201398669
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1327G>A (p.Ala443Thr)
|
rs866479368
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1346-7C>A
|
rs754052378
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.135A>G (p.Gln45=)
|
rs764813421
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1389G>A (p.Glu463=)
|
rs886043657
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1546G>A (p.Asp516Asn)
|
rs185034915
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1556-12T>C
|
rs749749321
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.162G>A (p.Gln54=)
|
rs762262807
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1644T>C (p.Ser548=)
|
rs772855559
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1647C>T (p.Ser549=)
|
rs866879440
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1668+10C>T
|
rs545368463
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1668+11T>C
|
rs200980685
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1668+19A>G
|
rs771087905
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1669-17C>T
|
rs755846938
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1692G>A (p.Glu564=)
|
rs371827685
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1804C>T (p.Leu602=)
|
rs16014
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1809C>T (p.Val603=)
|
rs560241650
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1848G>A (p.Leu616=)
|
rs1164864162
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1875C>T (p.Val625=)
|
rs774629539
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1899A>G (p.Gln633=)
|
rs769887736
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1913+8C>T
|
rs770833278
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1950C>T (p.Phe650=)
|
rs747730451
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1977G>A (p.Thr659=)
|
rs371952989
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1989C>T (p.Ile663=)
|
rs764413479
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2022C>T (p.Tyr674=)
|
rs940460024
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2025C>T (p.Asp675=)
|
rs1170735669
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2043G>A (p.Gly681=)
|
rs750324942
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2052G>A (p.Gln684=)
|
rs774083779
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2055C>T (p.Gly685=)
|
rs768332997
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.210C>T (p.Asn70=)
|
rs1417918847
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2124C>T (p.Phe708=)
|
rs762654239
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2133C>T (p.Ile711=)
|
rs764839814
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2172+8C>T
|
rs200277127
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2198C>T (p.Ala733Val)
|
rs1335209785
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2199G>A (p.Ala733=)
|
rs1463843521
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2265C>T (p.Asn755=)
|
rs1382705855
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2289A>G (p.Gln763=)
|
rs771044445
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2310C>G (p.Ala770=)
|
rs1375569922
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2340G>A (p.Glu780=)
|
rs562717028
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2349G>A (p.Lys783=)
|
rs1187115036
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2358G>A (p.Leu786=)
|
rs749958045
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2364C>T (p.Ala788=)
|
rs766996486
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2391G>A (p.Met797Ile)
|
rs370746809
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2397G>A (p.Pro799=)
|
rs996453280
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2404C>A (p.Arg802Ser)
|
rs760816963
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2520G>A (p.Ala840=)
|
rs1367532933
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.255C>T (p.Asn85=)
|
rs1285665891
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2571C>T (p.Phe857=)
|
rs1222215404
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2622G>A (p.Ser874=)
|
rs1334069330
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2641A>C (p.Arg881=)
|
rs1361559490
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2651C>T (p.Ala884Val)
|
rs746582791
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2655A>G (p.Gly885=)
|
rs1057524746
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2658C>T (p.Ser886=)
|
rs1462953587
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2679G>T (p.Arg893=)
|
rs2057731363
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2696G>A (p.Arg899His)
|
rs1290079536
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.270C>T (p.Tyr90=)
|
rs371957971
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2781C>T (p.Asp927=)
|
rs1216508972
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2799G>A (p.Val933=)
|
rs761397410
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2809G>C (p.Gly937Arg)
|
rs746428515
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2811G>T (p.Gly937=)
|
rs1322679497
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2872C>A (p.His958Asn)
|
rs923472334
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2919G>A (p.Ala973=)
|
rs1229290225
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2938C>T (p.Arg980Cys)
|
rs778978325
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.294-17C>T
|
rs752007612
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2959C>G (p.Arg987Gly)
|
rs1489702072
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2979C>T (p.Gly993=)
|
rs1347561457
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2992G>A (p.Gly998Arg)
|
rs781006387
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3015C>T (p.His1005=)
|
rs1226532363
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3167G>A (p.Arg1056His)
|
rs200850308
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3233C>T (p.Ser1078Leu)
|
rs748935741
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3234G>A (p.Ser1078=)
|
rs1331367408
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3238G>A (p.Ala1080Thr)
|
rs577581172
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3246C>T (p.His1082=)
|
rs556541935
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3247G>A (p.Gly1083Ser)
|
rs753077104
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3261C>T (p.His1087=)
|
rs776799566
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3303C>T (p.Thr1101=)
|
rs748999071
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.330G>A (p.Ala110=)
|
rs375486960
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3334A>C (p.Met1112Leu)
|
rs755317765
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3347C>T (p.Pro1116Leu)
|
rs760744104
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3357C>T (p.Ala1119=)
|
rs372364153
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3383C>T (p.Pro1128Leu)
|
rs754208553
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.339C>T (p.Ile113=)
|
rs185952971
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3402C>T (p.Pro1134=)
|
rs767675502
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3435C>T (p.Ile1145=)
|
rs781300443
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3450C>T (p.Ser1150=)
|
rs751700486
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.345C>G (p.Leu115=)
|
rs747917423
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3497C>T (p.Thr1166Ile)
|
rs746222908
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3501A>G (p.Thr1167=)
|
rs1467183042
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3520T>G (p.Cys1174Gly)
|
rs996509493
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3543C>T (p.Thr1181=)
|
rs773844470
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3553+7C>G
|
rs878865349
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3636C>T (p.Asp1212=)
|
rs757943547
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3639C>T (p.Gly1213=)
|
rs976780203
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.367G>A (p.Asp123Asn)
|
rs753467037
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3692+20A>G
|
rs934863410
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3700C>T (p.Arg1234Cys)
|
rs781738239
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3724C>T (p.Leu1242=)
|
rs1275961783
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3750C>T (p.Leu1250=)
|
rs1238454656
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3778C>T (p.Leu1260=)
|
rs944942986
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3783C>T (p.Ala1261=)
|
rs1057523661
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3882+10G>C
|
rs183712582
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3883-5C>T
|
rs748652953
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.399+20A>G
|
rs1192777400
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.400-19T>C
|
rs2060943767
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4047G>T (p.Val1349=)
|
rs1265632174
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4090-16C>G
|
rs758220361
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4143C>T (p.Ile1381=)
|
rs1244179413
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4170C>T (p.Phe1390=)
|
rs760102802
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4203A>G (p.Lys1401=)
|
rs1160017642
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4256A>G (p.Lys1419Arg)
|
rs574194354
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4263C>T (p.Leu1421=)
|
rs1173445536
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4293A>G (p.Arg1431=)
|
rs913405402
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4302G>A (p.Glu1434=)
|
rs1052611146
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4389-15C>T
|
rs1356998435
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4389-7C>T
|
rs1417689500
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.438C>T (p.Phe146=)
|
rs755662617
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4467C>T (p.Phe1489=)
|
rs1600186663
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4590+12A>G
|
rs760554391
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4590+13A>G
|
rs1190654202
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4659C>T (p.Ser1553=)
|
rs966897092
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4668C>T (p.Tyr1556=)
|
rs370203027
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4707C>T (p.Tyr1569=)
|
rs201475701
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4725C>T (p.Ile1575=)
|
rs751308492
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4807G>A (p.Val1603Ile)
|
rs943715197
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4821C>A (p.Leu1607=)
|
rs2056444098
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4824C>T (p.Phe1608=)
|
rs1176237039
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4935C>T (p.Leu1645=)
|
rs1401183344
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5067+10C>T
|
rs549805937
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5088G>A (p.Leu1696=)
|
rs767743815
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5094C>T (p.Ile1698=)
|
rs201844207
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5134-11C>T
|
rs41276882
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5154C>T (p.Ile1718=)
|
rs751799133
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5193A>C (p.Gln1731His)
|
rs773031818
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5249+8G>C
|
rs747305291
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5250-8G>C
|
rs1555737120
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5256C>T (p.Ala1752=)
|
rs753902560
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5298C>T (p.Ser1766=)
|
rs767315464
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5313T>C (p.Asp1771=)
|
rs2055674093
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5316G>A (p.Lys1772=)
|
rs886043622
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.531G>T (p.Val177=)
|
rs1294737592
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5336G>A (p.Arg1779Gln)
|
rs267605294
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.539+11C>T
|
rs115447563
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.539+8G>T
|
rs372925573
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.540-9T>G
|
rs1172688314
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5400+7C>T
|
rs1046598864
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5400+8T>C
|
rs772508313
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5418C>T (p.Val1806=)
|
rs561301072
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5520C>T (p.Pro1840=)
|
rs754521399
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5528+16G>A
|
rs775890060
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5528+6A>G
|
rs762224302
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5626-6C>G
|
rs769606952
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5706A>G (p.Thr1902=)
|
rs1434572084
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5731+19C>T
|
rs1259224644
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5732-8C>T
|
rs1057521521
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.573A>G (p.Leu191=)
|
rs1229065392
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5760T>C (p.Ala1920=)
|
rs760343725
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5768G>A (p.Arg1923Gln)
|
rs771636070
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5784G>A (p.Ala1928=)
|
rs770231014
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5795A>G (p.Asn1932Ser)
|
rs1205866071
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5811G>A (p.Thr1937=)
|
rs747273411
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5839+10G>A
|
rs371733571
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5840-15dup
|
rs1428959852
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5871A>G (p.Ala1957=)
|
rs751132291
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5937G>A (p.Glu1979=)
|
rs768860392
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6012C>T (p.Asn2004=)
|
rs764448299
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6015C>T (p.Ala2005=)
|
rs369675855
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6050+9C>T
|
rs1401679003
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6051-11C>A
|
rs759586410
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6060C>T (p.His2020=)
|
rs1282402038
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6066C>T (p.Ser2022=)
|
rs886043571
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6096C>A (p.Thr2032=)
|
rs2054850952
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.613C>T (p.Leu205=)
|
rs2059326322
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6141G>A (p.Pro2047=)
|
rs760682283
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6162C>A (p.Asp2054Glu)
|
rs774164327
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6190-18T>C
|
rs751366127
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6190-4G>A
|
rs769551839
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6190-5C>T
|
rs368180309
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6228C>T (p.Ser2076=)
|
rs781315895
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6231C>A (p.Asp2077Glu)
|
rs751515136
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6295G>A (p.Glu2099Lys)
|
rs757385012
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6303+14C>T
|
rs777901156
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6340-9C>T
|
rs1297370748
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6360C>T (p.Pro2120=)
|
rs1442058627
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6372A>G (p.Ser2124=)
|
rs760994682
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6431C>T (p.Pro2144Leu)
|
rs750077868
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6435C>T (p.Pro2145=)
|
rs1456597171
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6449G>A (p.Arg2150Gln)
|
rs751044309
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6463C>T (p.Arg2155Cys)
|
rs766661019
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6469G>A (p.Asp2157Asn)
|
rs1042634748
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6481C>T (p.Arg2161Cys)
|
rs1198604369
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6501G>T (p.Leu2167=)
|
rs781746273
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6527-5C>T
|
rs1193230442
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6527-8C>T
|
rs1265326582
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6575C>T (p.Ser2192Leu)
|
rs1325697290
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6582G>A (p.Glu2194=)
|
rs777446478
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6588C>A (p.Asp2196Glu)
|
rs1168700437
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6606C>T (p.Pro2202=)
|
rs1219161255
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6648C>T (p.His2216=)
|
rs1281394713
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6667C>T (p.Pro2223Ser)
|
rs768221184
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6696G>A (p.Arg2232=)
|
rs1392174465
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6698C>T (p.Pro2233Leu)
|
rs1317740666
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6705C>T (p.His2235=)
|
rs1376732755
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6706G>A (p.Gly2236Ser)
|
rs752808137
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6716G>A (p.Arg2239Gln)
|
rs753798870
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6732C>T (p.Arg2244=)
|
rs1406247650
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6747C>T (p.Pro2249=)
|
rs747396290
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6750C>T (p.Ser2250=)
|
rs375958273
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6758G>A (p.Arg2253Gln)
|
rs752950486
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6780+7G>A
|
rs2054677545
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.684G>A (p.Gln228=)
|
rs1356192843
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.714T>C (p.Leu238=)
|
rs1451920573
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.726C>T (p.Ile242=)
|
rs1169274623
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.74T>G (p.Val25Gly)
|
rs565157998
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.774A>G (p.Glu258=)
|
rs770324320
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.784+11G>A
|
rs757532272
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.786T>C (p.Asp262=)
|
rs944129354
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.78C>G (p.Gly26=)
|
rs748434655
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.864G>A (p.Gln288=)
|
rs770448965
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.867C>T (p.Pro289=)
|
rs777059446
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.885C>T (p.Asn295=)
|
rs981058428
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.978+10G>T
|
rs1015293932
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.979-7C>T
|
rs1375150525
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.1068G>C (p.Arg356=)
|
rs752146614
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.1086-7T>C
|
rs1382809916
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.1092A>G (p.Gln364=)
|
rs570171059
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.111T>A (p.Arg37=)
|
rs774051017
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.1155T>C (p.Asn385=)
|
rs1325465304
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.1200A>G (p.Leu400=)
|
rs931502378
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.1222-12T>C
|
rs1158347123
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.1233T>C (p.Asp411=)
|
rs1398538214
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.1248C>T (p.Ser416=)
|
rs1851708614
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.129C>T (p.Ser43=)
|
rs1442175070
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.1324-11A>G
|
rs771460214
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.1329C>T (p.Thr443=)
|
rs193111526
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.1389C>T (p.Tyr463=)
|
rs587784431
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.1416C>T (p.Phe472=)
|
rs767265808
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.1458G>A (p.Gln486=)
|
rs753753168
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.1495T>C (p.Leu499=)
|
rs748615499
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.1542A>G (p.Lys514=)
|
rs763879792
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.1573-13T>C
|
rs1052807020
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.1575A>G (p.Ala525=)
|
rs1589211921
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.1593C>G (p.Thr531=)
|
rs1057520489
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.1608C>T (p.Asn536=)
|
rs1232400211
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.1650+9G>A
|
rs745454196
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.1677C>T (p.His559=)
|
rs587784432
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.1701C>T (p.Ala567=)
|
rs1391943816
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.1806+6G>C
|
rs760820851
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.1807-15T>G
|
rs1416846037
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.1821A>G (p.Leu607=)
|
rs774410639
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.1953T>C (p.Ala651=)
|
rs376957536
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.201A>T (p.Ala67=)
|
rs765540595
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.2043G>A (p.Gln681=)
|
rs771555109
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.2058T>C (p.Asn686=)
|
rs1015052595
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.2109G>A (p.Ser703=)
|
rs369710857
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.2118C>T (p.Tyr706=)
|
rs760281970
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.2286C>T (p.Leu762=)
|
rs745436802
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.2326C>T (p.Arg776Trp)
|
rs148258493
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.2371C>A (p.Arg791=)
|
rs769380398
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.238-8G>A
|
rs750970258
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.2394G>A (p.Thr798=)
|
rs768271102
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.2421C>T (p.Ala807=)
|
rs1329573763
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.2430C>T (p.Thr810=)
|
rs754228048
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.2464C>T (p.Leu822=)
|
rs765706270
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.2496A>G (p.Glu832=)
|
rs1245531904
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.2498T>C (p.Ile833Thr)
|
rs904041405
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.2763C>T (p.Asp921=)
|
rs761166458
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.2772T>C (p.Ser924=)
|
rs143939145
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.2778+7A>C
|
rs1481569035
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.2799A>G (p.Glu933=)
|
rs1368341471
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.285C>T (p.Asn95=)
|
rs533717545
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.2871+15G>A
|
rs771636267
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.2910G>A (p.Glu970=)
|
rs763235552
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.2928C>T (p.Tyr976=)
|
rs756378105
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.2978T>C (p.Ile993Thr)
|
rs1215852038
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.3000C>G (p.Thr1000=)
|
rs1194481175
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.3007-19C>T
|
rs779899640
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.3027G>A (p.Val1009=)
|
rs774659049
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.3035G>A (p.Arg1012His)
|
rs1265382491
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.3060C>T (p.Tyr1020=)
|
rs530361602
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.3075C>T (p.Asp1025=)
|
rs755615190
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.3081C>G (p.Ala1027=)
|
rs749251486
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.3090C>T (p.Ala1030=)
|
rs1314188538
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.3155+17G>A
|
rs765814431
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.3181A>G (p.Ser1061Gly)
|
rs1369204255
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.3216-18C>T
|
rs372969086
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.3282T>C (p.Phe1094=)
|
rs1045745615
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.3315A>G (p.Gln1105=)
|
rs779226167
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.3357C>T (p.Val1119=)
|
rs1279884865
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.3414+17G>A
|
rs767504664
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.3414+3A>G
|
rs1554752325
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.3415-9G>T
|
rs199802986
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.3543+10G>A
|
rs754641622
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.3543+12G>A
|
rs376482975
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.3543+9C>T
|
rs746280203
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.3579+3_3579+4dup
|
rs797046004
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.3612C>T (p.Thr1204=)
|
rs1409357698
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.3613T>C (p.Phe1205Leu)
|
rs1334812460
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.363+17C>T
|
rs764216482
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.363+7A>G
|
rs371781354
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.3633G>A (p.Leu1211=)
|
rs1484600745
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.364-19T>C
|
rs200978151
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.3681G>A (p.Gln1227=)
|
rs1307231651
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.368G>A (p.Arg123His)
|
rs775634580
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.3719+15C>G
|
rs369108363
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.3720-7C>T
|
rs773023641
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.3720-8G>A
|
rs771588342
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.3735C>T (p.Thr1245=)
|
rs942685766
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.3741A>G (p.Glu1247=)
|
rs1248662462
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.3786A>G (p.Gly1262=)
|
rs199902257
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.3801T>C (p.Ser1267=)
|
rs751784689
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.3865-7C>T
|
rs1248978165
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.3948G>A (p.Glu1316=)
|
rs1278108281
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.4008T>C (p.Gly1336=)
|
rs780641212
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.4038C>T (p.Ser1346=)
|
rs768542176
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.4129T>C (p.Leu1377=)
|
rs1220521892
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.4164C>T (p.Ile1388=)
|
rs759713935
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.4174G>A (p.Ala1392Thr)
|
rs972500325
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.4345-10C>T
|
rs996303937
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.4345-8C>T
|
rs1374814925
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.4554C>G (p.Ala1518=)
|
rs765079561
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.4595+9C>T
|
rs771798239
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.4596-19C>G
|
rs1317299803
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.4604G>A (p.Arg1535His)
|
rs745394212
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.4632G>A (p.Arg1544=)
|
rs774198117
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.4722G>A (p.Ala1574=)
|
rs886972447
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.4758+10A>T
|
rs1856301701
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.4759-8T>G
|
rs747171460
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.4774-20A>G
|
rs1856587421
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.4821C>T (p.Asn1607=)
|
rs539062498
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.4905+12C>A
|
rs1272876073
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.4905+18C>G
|
rs751336135
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.4910G>A (p.Arg1637His)
|
rs777707442
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.4926T>C (p.Ala1642=)
|
rs768791824
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.5001C>T (p.Asn1667=)
|
rs781381237
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.5013G>A (p.Gly1671=)
|
rs886063506
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.505-18C>T
|
rs1057522078
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.510A>G (p.Ala170=)
|
rs1404143666
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.5148+17G>A
|
rs758490204
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.5149-10C>T
|
rs587784437
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.5149-15T>C
|
rs370741251
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.5244C>T (p.Asn1748=)
|
rs747794736
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.5280C>G (p.Ser1760=)
|
rs1857089934
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.5361G>A (p.Glu1787=)
|
rs756977702
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.5508C>T (p.Ser1836=)
|
rs777780283
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.5550G>A (p.Leu1850=)
|
rs1857392790
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.55C>A (p.Arg19=)
|
rs748232676
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.5601-17C>T
|
rs762938535
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.5688C>G (p.Thr1896=)
|
rs749391487
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.5733+13C>T
|
rs371182687
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.5784G>A (p.Lys1928=)
|
rs761784727
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.5831A>T (p.Lys1944Met)
|
rs1857813082
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.5832+16T>C
|
rs1308278456
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.5832+18G>A
|
rs1447545553
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.5832+9A>G
|
rs1431187706
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.5833-5C>T
|
rs1326464989
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.5853C>T (p.Asn1951=)
|
rs776448694
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.5880C>T (p.Asn1960=)
|
rs372782253
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.5929C>T (p.Leu1977=)
|
rs745668882
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.5973C>T (p.Asp1991=)
|
rs1060504931
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.5979G>A (p.Val1993=)
|
rs1413553922
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.6054G>A (p.Thr2018=)
|
rs1480779005
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.6058C>T (p.Leu2020Phe)
|
rs751012803
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.6078T>C (p.Phe2026=)
|
rs776794393
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.6117C>G (p.Ala2039=)
|
rs1310120255
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.6147C>T (p.Leu2049=)
|
rs778917848
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.615T>A (p.Val205=)
|
rs763385120
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.6240C>T (p.Arg2080=)
|
rs757354191
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.6270C>T (p.His2090=)
|
rs370102482
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.6312G>A (p.Lys2104=)
|
rs759120249
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.6321C>T (p.Ala2107=)
|
rs769488004
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.6414C>T (p.His2138=)
|
rs537595625
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.6453C>T (p.Asp2151=)
|
rs376208532
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.651+10A>G
|
rs1851181711
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.652-5T>C
|
rs1029752624
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.6594G>A (p.Leu2198=)
|
rs776820062
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.6707+8T>C
|
rs759068430
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.6708-6G>A
|
rs375772117
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.6729G>A (p.Ser2243=)
|
rs140856932
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.6738C>T (p.Leu2246=)
|
rs762644827
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.6763-12C>T
|
rs774215534
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.6763-5T>C
|
rs1442294534
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.6763-7C>T
|
rs587784439
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.6790A>C (p.Arg2264=)
|
rs766550915
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.7013+10G>A
|
rs759648854
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.7013+19G>A
|
rs370654629
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.7014-20C>T
|
rs1444973251
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.7068C>T (p.Cys2356=)
|
rs538402865
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.7073G>A (p.Arg2358His)
|
rs773474201
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.7160+16C>T
|
rs772488907
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.7161-13C>T
|
rs1489017459
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.7209C>T (p.Arg2403=)
|
rs778129817
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.7275A>G (p.Gly2425=)
|
rs1239084886
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.7308+9C>T
|
rs1860031125
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.7309-17C>T
|
rs1860104765
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.7309-7C>T
|
rs866813546
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.7329C>T (p.Ala2443=)
|
rs769426014
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.7338C>T (p.Cys2446=)
|
rs374405583
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.7350G>A (p.Met2450Ile)
|
rs761874094
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.7377C>T (p.Arg2459=)
|
rs756798259
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.785+12G>C
|
rs774982401
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.84C>T (p.Arg28=)
|
rs1447324542
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.859C>T (p.Leu287=)
|
rs1851406473
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.873G>A (p.Gln291=)
|
rs891278524
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.891C>T (p.His297=)
|
rs774303070
|
0.00001
|
|
NM_001165963.4(SCN1A):c.1032A>G (p.Gln344=)
|
rs999958974
|
0.00001
|
|
NM_001165963.4(SCN1A):c.1107T>C (p.Ser369=)
|
rs760220733
|
0.00001
|
|
NM_001165963.4(SCN1A):c.1171-19C>A
|
rs929127955
|
0.00001
|
|
NM_001165963.4(SCN1A):c.1173A>G (p.Thr391=)
|
rs766892870
|
0.00001
|
|
NM_001165963.4(SCN1A):c.1194G>A (p.Thr398=)
|
rs753890879
|
0.00001
|
|
NM_001165963.4(SCN1A):c.1225T>C (p.Leu409=)
|
rs770033555
|
0.00001
|
|
NM_001165963.4(SCN1A):c.1248T>C (p.Asn416=)
|
rs748267258
|
0.00001
|
|
NM_001165963.4(SCN1A):c.1326C>T (p.Ala442=)
|
rs753601387
|
0.00001
|
|
NM_001165963.4(SCN1A):c.1377+16C>T
|
rs1252711576
|
0.00001
|
|
NM_001165963.4(SCN1A):c.1378-10T>C
|
rs777800447
|
0.00001
|
|
NM_001165963.4(SCN1A):c.1378-18C>A
|
rs1434521938
|
0.00001
|
|
NM_001165963.4(SCN1A):c.1527G>A (p.Gln509=)
|
rs147149558
|
0.00001
|
|
NM_001165963.4(SCN1A):c.1546G>A (p.Asp516Asn)
|
rs757923791
|
0.00001
|
|
NM_001165963.4(SCN1A):c.1603C>T (p.Arg535Cys)
|
rs761062389
|
0.00001
|
|
NM_001165963.4(SCN1A):c.1620G>C (p.Gly540=)
|
rs1417472613
|
0.00001
|
|
NM_001165963.4(SCN1A):c.1627T>C (p.Leu543=)
|
rs200951734
|
0.00001
|
|
NM_001165963.4(SCN1A):c.1767C>T (p.Asp589=)
|
rs367613290
|
0.00001
|
|
NM_001165963.4(SCN1A):c.1818T>C (p.Asp606=)
|
rs727504141
|
0.00001
|
|
NM_001165963.4(SCN1A):c.1827T>C (p.Phe609=)
|
rs769310645
|
0.00001
|
|
NM_001165963.4(SCN1A):c.1835G>A (p.Arg612Gln)
|
rs1060502184
|
0.00001
|
|
NM_001165963.4(SCN1A):c.1842C>T (p.His614=)
|
rs370463183
|
0.00001
|
|
NM_001165963.4(SCN1A):c.1845A>G (p.Gly615=)
|
rs758615134
|
0.00001
|
|
NM_001165963.4(SCN1A):c.1872G>A (p.Gln624=)
|
rs1256209754
|
0.00001
|
|
NM_001165963.4(SCN1A):c.1875C>T (p.Thr625=)
|
rs1423227098
|
0.00001
|
|
NM_001165963.4(SCN1A):c.1881G>A (p.Arg627=)
|
rs376049002
|
0.00001
|
|
NM_001165963.4(SCN1A):c.1891A>G (p.Met631Val)
|
rs1336507340
|
0.00001
|
|
NM_001165963.4(SCN1A):c.1895T>A (p.Leu632Gln)
|
rs201987598
|
0.00001
|
|
NM_001165963.4(SCN1A):c.18T>G (p.Leu6=)
|
rs1553561004
|
0.00001
|
|
NM_001165963.4(SCN1A):c.1910C>T (p.Ala637Val)
|
rs1266240114
|
0.00001
|
|
NM_001165963.4(SCN1A):c.1928G>A (p.Ser643Asn)
|
rs369178649
|
0.00001
|
|
NM_001165963.4(SCN1A):c.1932T>C (p.Thr644=)
|
rs769257218
|
0.00001
|
|
NM_001165963.4(SCN1A):c.1969C>A (p.Pro657Thr)
|
rs747395931
|
0.00001
|
|
NM_001165963.4(SCN1A):c.1982C>T (p.Thr661Ile)
|
rs780340848
|
0.00001
|
|
NM_001165963.4(SCN1A):c.2018T>C (p.Ile673Thr)
|
rs1315723631
|
0.00001
|
|
NM_001165963.4(SCN1A):c.2043+20T>A
|
rs760034595
|
0.00001
|
|
NM_001165963.4(SCN1A):c.2145T>C (p.Ser715=)
|
rs772751252
|
0.00001
|
|
NM_001165963.4(SCN1A):c.2177-10dup
|
rs774232184
|
0.00001
|
|
NM_001165963.4(SCN1A):c.2202C>T (p.Cys734=)
|
rs1454284939
|
0.00001
|
|
NM_001165963.4(SCN1A):c.2236T>C (p.Leu746=)
|
rs753714341
|
0.00001
|
|
NM_001165963.4(SCN1A):c.228C>G (p.Pro76=)
|
rs1173774565
|
0.00001
|
|
NM_001165963.4(SCN1A):c.2379G>A (p.Thr793=)
|
rs776842943
|
0.00001
|
|
NM_001165963.4(SCN1A):c.2451G>C (p.Leu817=)
|
rs1304400552
|
0.00001
|
|
NM_001165963.4(SCN1A):c.2508C>T (p.Asp836=)
|
rs575554223
|
0.00001
|
|
NM_001165963.4(SCN1A):c.2520G>T (p.Val840=)
|
rs757851017
|
0.00001
|
|
NM_001165963.4(SCN1A):c.2523G>A (p.Thr841=)
|
rs1165918262
|
0.00001
|
|
NM_001165963.4(SCN1A):c.2547C>T (p.Leu849=)
|
rs147360576
|
0.00001
|
|
NM_001165963.4(SCN1A):c.2551A>G (p.Asn851Asp)
|
rs1450206187
|
0.00001
|
|
NM_001165963.4(SCN1A):c.2589+12_2589+13insC
|
rs779108974
|
0.00001
|
|
NM_001165963.4(SCN1A):c.2593C>A (p.Arg865=)
|
rs794726697
|
0.00001
|
|
NM_001165963.4(SCN1A):c.264+20C>T
|
rs1254193559
|
0.00001
|
|
NM_001165963.4(SCN1A):c.264+8T>G
|
rs1433805634
|
0.00001
|
|
NM_001165963.4(SCN1A):c.265-14T>C
|
rs765088995
|
0.00001
|
|
NM_001165963.4(SCN1A):c.265-4A>G
|
rs776470979
|
0.00001
|
|
NM_001165963.4(SCN1A):c.2655T>C (p.Asn885=)
|
rs1696668881
|
0.00001
|
|
NM_001165963.4(SCN1A):c.2721C>T (p.Val907=)
|
rs748504238
|
0.00001
|
|
NM_001165963.4(SCN1A):c.2841G>A (p.Val947=)
|
rs760484751
|
0.00001
|
|
NM_001165963.4(SCN1A):c.2877T>C (p.Cys959=)
|
rs775214722
|
0.00001
|
|
NM_001165963.4(SCN1A):c.3074A>T (p.Tyr1025Phe)
|
rs752532497
|
0.00001
|
|
NM_001165963.4(SCN1A):c.3118A>C (p.Arg1040=)
|
rs370793418
|
0.00001
|
|
NM_001165963.4(SCN1A):c.3120G>T (p.Arg1040Ser)
|
rs1373733895
|
0.00001
|
|
NM_001165963.4(SCN1A):c.3176A>T (p.Asp1059Val)
|
rs779306054
|
0.00001
|
|
NM_001165963.4(SCN1A):c.3195T>C (p.His1065=)
|
rs145219358
|
0.00001
|
|
NM_001165963.4(SCN1A):c.3224A>G (p.Tyr1075Cys)
|
rs1226603266
|
0.00001
|
|
NM_001165963.4(SCN1A):c.3225T>C (p.Tyr1075=)
|
rs1358367140
|
0.00001
|
|
NM_001165963.4(SCN1A):c.3246T>C (p.Thr1082=)
|
rs961517010
|
0.00001
|
|
NM_001165963.4(SCN1A):c.3357A>G (p.Val1119=)
|
rs771222969
|
0.00001
|
|
NM_001165963.4(SCN1A):c.3408G>A (p.Ser1136=)
|
rs181995339
|
0.00001
|
|
NM_001165963.4(SCN1A):c.3435G>A (p.Leu1145=)
|
rs371910801
|
0.00001
|
|
NM_001165963.4(SCN1A):c.3496C>A (p.Gln1166Lys)
|
rs368609628
|
0.00001
|
|
NM_001165963.4(SCN1A):c.3501C>T (p.Pro1167=)
|
rs769635347
|
0.00001
|
|
NM_001165963.4(SCN1A):c.3525T>G (p.Leu1175=)
|
rs1057524122
|
0.00001
|
|
NM_001165963.4(SCN1A):c.3551-3C>T
|
rs1225446966
|
0.00001
|
|
NM_001165963.4(SCN1A):c.3556G>T (p.Val1186Leu)
|
rs780607306
|
0.00001
|
|
NM_001165963.4(SCN1A):c.3573T>C (p.Cys1191=)
|
rs750943685
|
0.00001
|
|
NM_001165963.4(SCN1A):c.3576T>C (p.Cys1192=)
|
rs150638891
|
0.00001
|
|
NM_001165963.4(SCN1A):c.3630G>A (p.Thr1210=)
|
rs377326177
|
0.00001
|
|
NM_001165963.4(SCN1A):c.3651T>C (p.His1217=)
|
rs538655845
|
0.00001
|
|
NM_001165963.4(SCN1A):c.366T>C (p.Ile122=)
|
rs752918105
|
0.00001
|
|
NM_001165963.4(SCN1A):c.3741G>A (p.Thr1247=)
|
rs200745708
|
0.00001
|
|
NM_001165963.4(SCN1A):c.3807A>C (p.Leu1269=)
|
rs1359405350
|
0.00001
|
|
NM_001165963.4(SCN1A):c.384-15T>C
|
rs1172183466
|
0.00001
|
|
NM_001165963.4(SCN1A):c.384-19T>C
|
rs1467239671
|
0.00001
|
|
NM_001165963.4(SCN1A):c.384-3T>C
|
rs368381487
|
0.00001
|
|
NM_001165963.4(SCN1A):c.3888G>A (p.Leu1296=)
|
rs998325208
|
0.00001
|
|
NM_001165963.4(SCN1A):c.4002+2023A>G
|
rs1052506764
|
0.00001
|
|
NM_001165963.4(SCN1A):c.4002+2199G>C
|
rs1048104424
|
0.00001
|
|
NM_001165963.4(SCN1A):c.4002+2214G>A
|
rs1414799202
|
0.00001
|
|
NM_001165963.4(SCN1A):c.4002+2336G>A
|
rs147529489
|
0.00001
|
|
NM_001165963.4(SCN1A):c.4002+2360A>G
|
rs1029107872
|
0.00001
|
|
NM_001165963.4(SCN1A):c.4002+2374G>A
|
rs899082987
|
0.00001
|
|
NM_001165963.4(SCN1A):c.4002+2381C>T
|
rs537142789
|
0.00001
|
|
NM_001165963.4(SCN1A):c.4002+2407A>G
|
rs1191367818
|
0.00001
|
|
NM_001165963.4(SCN1A):c.4002+2436C>T
|
rs1272621179
|
0.00001
|
|
NM_001165963.4(SCN1A):c.4002+2510C>T
|
rs1574028087
|
0.00001
|
|
NM_001165963.4(SCN1A):c.4002+2561T>C
|
rs762618716
|
0.00001
|
|
NM_001165963.4(SCN1A):c.4002+2568G>A
|
rs980081654
|
0.00001
|
|
NM_001165963.4(SCN1A):c.4003-18T>C
|
rs1305983184
|
0.00001
|
|
NM_001165963.4(SCN1A):c.4125C>T (p.His1375=)
|
rs370788427
|
0.00001
|
|
NM_001165963.4(SCN1A):c.4143T>G (p.Thr1381=)
|
rs1240740243
|
0.00001
|
|
NM_001165963.4(SCN1A):c.4161C>T (p.Ile1387=)
|
rs761168283
|
0.00001
|
|
NM_001165963.4(SCN1A):c.4171A>C (p.Asn1391His)
|
rs1295072436
|
0.00001
|
|
NM_001165963.4(SCN1A):c.4284+14A>G
|
rs370074740
|
0.00001
|
|
NM_001165963.4(SCN1A):c.4284+19C>A
|
rs1383995139
|
0.00001
|
|
NM_001165963.4(SCN1A):c.4338+12T>C
|
rs761062999
|
0.00001
|
|
NM_001165963.4(SCN1A):c.4386C>T (p.Tyr1462=)
|
rs587781146
|
0.00001
|
|
NM_001165963.4(SCN1A):c.4477-6C>G
|
rs1470740998
|
0.00001
|
|
NM_001165963.4(SCN1A):c.4524T>C (p.Tyr1508=)
|
rs778620898
|
0.00001
|
|
NM_001165963.4(SCN1A):c.4581+10A>G
|
rs766780193
|
0.00001
|
|
NM_001165963.4(SCN1A):c.4581+12C>T
|
rs886055042
|
0.00001
|
|
NM_001165963.4(SCN1A):c.4582-11T>C
|
rs377533926
|
0.00001
|
|
NM_001165963.4(SCN1A):c.4582-19C>T
|
rs1246767396
|
0.00001
|
|
NM_001165963.4(SCN1A):c.4659T>G (p.Leu1553=)
|
rs764244249
|
0.00001
|
|
NM_001165963.4(SCN1A):c.4668C>A (p.Val1556=)
|
rs774376498
|
0.00001
|
|
NM_001165963.4(SCN1A):c.4717T>C (p.Leu1573=)
|
rs1559110682
|
0.00001
|
|
NM_001165963.4(SCN1A):c.473+9A>C
|
rs571963052
|
0.00001
|
|
NM_001165963.4(SCN1A):c.4788C>T (p.Arg1596=)
|
rs762836573
|
0.00001
|
|
NM_001165963.4(SCN1A):c.4848T>C (p.Ile1616=)
|
rs1379533666
|
0.00001
|
|
NM_001165963.4(SCN1A):c.4896T>C (p.Pro1632=)
|
rs1689370353
|
0.00001
|
|
NM_001165963.4(SCN1A):c.4941A>G (p.Leu1647=)
|
rs770111331
|
0.00001
|
|
NM_001165963.4(SCN1A):c.5052C>T (p.Tyr1684=)
|
rs1433806086
|
0.00001
|
|
NM_001165963.4(SCN1A):c.5064G>T (p.Gly1688=)
|
rs752375814
|
0.00001
|
|
NM_001165963.4(SCN1A):c.5104G>A (p.Asp1702Asn)
|
rs748333147
|
0.00001
|
|
NM_001165963.4(SCN1A):c.5151A>G (p.Leu1717=)
|
rs1177078569
|
0.00001
|
|
NM_001165963.4(SCN1A):c.5169T>G (p.Ser1723=)
|
rs1168333541
|
0.00001
|
|
NM_001165963.4(SCN1A):c.5202C>T (p.Leu1734=)
|
rs140664455
|
0.00001
|
|
NM_001165963.4(SCN1A):c.5346C>T (p.Ile1782=)
|
rs121918763
|
0.00001
|
|
NM_001165963.4(SCN1A):c.5430G>A (p.Glu1810=)
|
rs765676433
|
0.00001
|
|
NM_001165963.4(SCN1A):c.5433T>C (p.Val1811=)
|
rs762310676
|
0.00001
|
|
NM_001165963.4(SCN1A):c.5451C>T (p.Pro1817=)
|
rs776991363
|
0.00001
|
|
NM_001165963.4(SCN1A):c.5502G>A (p.Ala1834=)
|
rs754566611
|
0.00001
|
|
NM_001165963.4(SCN1A):c.5511G>A (p.Pro1837=)
|
rs1689194398
|
0.00001
|
|
NM_001165963.4(SCN1A):c.5532A>G (p.Pro1844=)
|
rs886043063
|
0.00001
|
|
NM_001165963.4(SCN1A):c.5601C>T (p.Ile1867=)
|
rs1573944589
|
0.00001
|
|
NM_001165963.4(SCN1A):c.5656C>A (p.Arg1886=)
|
rs779614747
|
0.00001
|
|
NM_001165963.4(SCN1A):c.5673G>A (p.Glu1891=)
|
rs1457641968
|
0.00001
|
|
NM_001165963.4(SCN1A):c.5766T>C (p.Ile1922=)
|
rs587781149
|
0.00001
|
|
NM_001165963.4(SCN1A):c.5802T>C (p.Thr1934=)
|
rs1391765490
|
0.00001
|
|
NM_001165963.4(SCN1A):c.5813C>T (p.Ala1938Val)
|
rs915676341
|
0.00001
|
|
NM_001165963.4(SCN1A):c.5877G>T (p.Met1959Ile)
|
rs763997333
|
0.00001
|
|
NM_001165963.4(SCN1A):c.5970A>C (p.Thr1990=)
|
rs1295648726
|
0.00001
|
|
NM_001165963.4(SCN1A):c.6024G>A (p.Gly2008=)
|
rs370049341
|
0.00001
|
|
NM_001165963.4(SCN1A):c.603-6T>C
|
rs376845691
|
0.00001
|
|
NM_001165963.4(SCN1A):c.606C>T (p.Tyr202=)
|
rs374555589
|
0.00001
|
|
NM_001165963.4(SCN1A):c.639G>A (p.Ser213=)
|
rs200975276
|
0.00001
|
|
NM_001165963.4(SCN1A):c.643T>C (p.Leu215=)
|
rs779837260
|
0.00001
|
|
NM_001165963.4(SCN1A):c.678G>A (p.Thr226=)
|
rs571355844
|
0.00001
|
|
NM_001165963.4(SCN1A):c.694+9A>G
|
rs754260524
|
0.00001
|
|
NM_001165963.4(SCN1A):c.837A>G (p.Gln279=)
|
rs778654049
|
0.00001
|
|
NM_001165963.4(SCN1A):c.846C>A (p.Pro282=)
|
rs1352832546
|
0.00001
|
|
NM_001165963.4(SCN1A):c.870T>C (p.His290=)
|
rs755274788
|
0.00001
|
|
NM_001165963.4(SCN1A):c.892G>A (p.Val298Met)
|
rs772149865
|
0.00001
|
|
NM_001165963.4(SCN1A):c.90A>G (p.Ala30=)
|
rs750748658
|
0.00001
|
|
NM_001184880.2(PCDH19):c.1032G>C (p.Pro344=)
|
rs1429555639
|
0.00001
|
|
NM_001184880.2(PCDH19):c.1092G>A (p.Pro364=)
|
rs761099954
|
0.00001
|
|
NM_001184880.2(PCDH19):c.1362C>G (p.Ser454=)
|
rs903487668
|
0.00001
|
|
NM_001184880.2(PCDH19):c.1434C>T (p.Arg478=)
|
rs137962077
|
0.00001
|
|
NM_001184880.2(PCDH19):c.1485G>A (p.Ser495=)
|
rs184770215
|
0.00001
|
|
NM_001184880.2(PCDH19):c.1506C>T (p.Val502=)
|
rs1301308123
|
0.00001
|
|
NM_001184880.2(PCDH19):c.1569C>T (p.His523=)
|
rs753119035
|
0.00001
|
|
NM_001184880.2(PCDH19):c.1605C>T (p.Ala535=)
|
rs754032170
|
0.00001
|
|
NM_001184880.2(PCDH19):c.162C>T (p.Asp54=)
|
rs1040413042
|
0.00001
|
|
NM_001184880.2(PCDH19):c.1662C>T (p.Leu554=)
|
rs758658173
|
0.00001
|
|
NM_001184880.2(PCDH19):c.177A>T (p.Ser59=)
|
rs1466130318
|
0.00001
|
|
NM_001184880.2(PCDH19):c.186C>T (p.Arg62=)
|
rs1282368557
|
0.00001
|
|
NM_001184880.2(PCDH19):c.1881C>T (p.Thr627=)
|
rs1368009329
|
0.00001
|
|
NM_001184880.2(PCDH19):c.1941C>T (p.His647=)
|
rs765223789
|
0.00001
|
|
NM_001184880.2(PCDH19):c.1956C>G (p.Leu652=)
|
rs1928356628
|
0.00001
|
|
NM_001184880.2(PCDH19):c.1962C>G (p.Ala654=)
|
rs759032566
|
0.00001
|
|
NM_001184880.2(PCDH19):c.1971C>G (p.Leu657=)
|
rs770353924
|
0.00001
|
|
NM_001184880.2(PCDH19):c.201G>A (p.Ser67=)
|
rs202078154
|
0.00001
|
|
NM_001184880.2(PCDH19):c.2024T>G (p.Val675Gly)
|
rs780704524
|
0.00001
|
|
NM_001184880.2(PCDH19):c.2223G>A (p.Ser741=)
|
rs907375983
|
0.00001
|
|
NM_001184880.2(PCDH19):c.2288+9G>T
|
rs753792839
|
0.00001
|
|
NM_001184880.2(PCDH19):c.2496C>T (p.Phe832=)
|
rs774555485
|
0.00001
|
|
NM_001184880.2(PCDH19):c.2523C>T (p.Arg841=)
|
rs374726171
|
0.00001
|
|
NM_001184880.2(PCDH19):c.2598C>T (p.Asn866=)
|
rs371444167
|
0.00001
|
|
NM_001184880.2(PCDH19):c.2619T>A (p.Thr873=)
|
rs2098901532
|
0.00001
|
|
NM_001184880.2(PCDH19):c.2676-8C>T
|
rs1174620986
|
0.00001
|
|
NM_001184880.2(PCDH19):c.2742A>G (p.Gln914=)
|
rs61742914
|
0.00001
|
|
NM_001184880.2(PCDH19):c.2907G>A (p.Arg969=)
|
rs766776515
|
0.00001
|
|
NM_001184880.2(PCDH19):c.3024C>T (p.Cys1008=)
|
rs1266028176
|
0.00001
|
|
NM_001184880.2(PCDH19):c.3033C>G (p.Thr1011=)
|
rs1355245225
|
0.00001
|
|
NM_001184880.2(PCDH19):c.3057G>A (p.Gly1019=)
|
rs886043091
|
0.00001
|
|
NM_001184880.2(PCDH19):c.3117C>T (p.Val1039=)
|
rs587781106
|
0.00001
|
|
NM_001184880.2(PCDH19):c.3213C>G (p.Leu1071=)
|
rs1402645764
|
0.00001
|
|
NM_001184880.2(PCDH19):c.3306C>T (p.Asn1102=)
|
rs1924606179
|
0.00001
|
|
NM_001184880.2(PCDH19):c.3309T>C (p.Asn1103=)
|
rs753229559
|
0.00001
|
|
NM_001184880.2(PCDH19):c.3351T>C (p.Asp1117=)
|
rs587781107
|
0.00001
|
|
NM_001184880.2(PCDH19):c.3393A>G (p.Glu1131=)
|
rs1448795169
|
0.00001
|
|
NM_001184880.2(PCDH19):c.405G>A (p.Glu135=)
|
rs1167814430
|
0.00001
|
|
NM_001184880.2(PCDH19):c.456C>T (p.Ser152=)
|
rs760286079
|
0.00001
|
|
NM_001184880.2(PCDH19):c.630G>A (p.Ala210=)
|
rs781763211
|
0.00001
|
|
NM_001184880.2(PCDH19):c.639T>C (p.Gly213=)
|
rs1349440230
|
0.00001
|
|
NM_001184880.2(PCDH19):c.705C>T (p.Asn235=)
|
rs750043738
|
0.00001
|
|
NM_001184880.2(PCDH19):c.729C>T (p.Tyr243=)
|
rs1166554052
|
0.00001
|
|
NM_001184880.2(PCDH19):c.741G>T (p.Val247=)
|
rs1057521743
|
0.00001
|
|
NM_001184880.2(PCDH19):c.789C>T (p.Ser263=)
|
rs1338518342
|
0.00001
|
|
NM_001184880.2(PCDH19):c.807C>A (p.Thr269=)
|
rs1467272137
|
0.00001
|
|
NM_001184880.2(PCDH19):c.889C>T (p.Leu297=)
|
rs1489598292
|
0.00001
|
|
NM_001184880.2(PCDH19):c.948G>T (p.Val316=)
|
rs371533263
|
0.00001
|
|
NM_001191061.2(SLC25A22):c.135G>C (p.Val45=)
|
rs914938263
|
0.00001
|
|
NM_001191061.2(SLC25A22):c.141G>C (p.Thr47=)
|
rs781681487
|
0.00001
|
|
NM_001191061.2(SLC25A22):c.146+20G>A
|
rs533314464
|
0.00001
|
|
NM_001191061.2(SLC25A22):c.146+9G>A
|
rs1205601942
|
0.00001
|
|
NM_001191061.2(SLC25A22):c.147-11C>T
|
rs748509400
|
0.00001
|
|
NM_001191061.2(SLC25A22):c.147-12C>G
|
rs1864692888
|
0.00001
|
|
NM_001191061.2(SLC25A22):c.165G>A (p.Lys55=)
|
rs758155200
|
0.00001
|
|
NM_001191061.2(SLC25A22):c.20+19C>T
|
rs1286759114
|
0.00001
|
|
NM_001191061.2(SLC25A22):c.203-15C>A
|
rs371498993
|
0.00001
|
|
NM_001191061.2(SLC25A22):c.203-19C>T
|
rs755909870
|
0.00001
|
|
NM_001191061.2(SLC25A22):c.21-11dup
|
rs1252614436
|
0.00001
|
|
NM_001191061.2(SLC25A22):c.351G>A (p.Gln117=)
|
rs377299330
|
0.00001
|
|
NM_001191061.2(SLC25A22):c.357C>T (p.Ile119=)
|
rs748285057
|
0.00001
|
|
NM_001191061.2(SLC25A22):c.379C>T (p.Leu127=)
|
rs746201051
|
0.00001
|
|
NM_001191061.2(SLC25A22):c.393G>A (p.Leu131=)
|
rs1177053683
|
0.00001
|
|
NM_001191061.2(SLC25A22):c.412+8C>T
|
rs760438511
|
0.00001
|
|
NM_001191061.2(SLC25A22):c.462G>T (p.Gly154=)
|
rs955053926
|
0.00001
|
|
NM_001191061.2(SLC25A22):c.588-5C>A
|
rs749545887
|
0.00001
|
|
NM_001191061.2(SLC25A22):c.591T>C (p.Asp197=)
|
rs1006751984
|
0.00001
|
|
NM_001191061.2(SLC25A22):c.609G>A (p.Val203=)
|
rs751993115
|
0.00001
|
|
NM_001191061.2(SLC25A22):c.63C>T (p.Ile21=)
|
rs555824464
|
0.00001
|
|
NM_001191061.2(SLC25A22):c.669G>A (p.Ser223=)
|
rs1393878147
|
0.00001
|
|
NM_001191061.2(SLC25A22):c.714C>T (p.Ala238=)
|
rs762903578
|
0.00001
|
|
NM_001191061.2(SLC25A22):c.753G>A (p.Thr251=)
|
rs752605716
|
0.00001
|
|
NM_001191061.2(SLC25A22):c.792C>T (p.Thr264=)
|
rs772170781
|
0.00001
|
|
NM_001191061.2(SLC25A22):c.818+18C>T
|
rs1259282620
|
0.00001
|
|
NM_001191061.2(SLC25A22):c.818+20G>C
|
rs574960850
|
0.00001
|
|
NM_001191061.2(SLC25A22):c.819-6C>T
|
rs1311947754
|
0.00001
|
|
NM_001191061.2(SLC25A22):c.846G>A (p.Ser282=)
|
rs753804802
|
0.00001
|
|
NM_001191061.2(SLC25A22):c.853C>T (p.Leu285=)
|
rs759256797
|
0.00001
|
|
NM_001191061.2(SLC25A22):c.861C>T (p.Gly287=)
|
rs202218399
|
0.00001
|
|
NM_001191061.2(SLC25A22):c.87C>T (p.Ile29=)
|
rs138185663
|
0.00001
|
|
NM_001191061.2(SLC25A22):c.945G>A (p.Leu315=)
|
rs1179494187
|
0.00001
|
|
NM_001199107.2(TBC1D24):c.1020C>T (p.Phe340=)
|
rs200711801
|
0.00001
|
|
NM_001199107.2(TBC1D24):c.1137G>A (p.Leu379=)
|
rs1243475474
|
0.00001
|
|
NM_001199107.2(TBC1D24):c.1142+7C>A
|
rs1364280797
|
0.00001
|
|
NM_001199107.2(TBC1D24):c.117G>A (p.Ala39=)
|
rs537494711
|
0.00001
|
|
NM_001199107.2(TBC1D24):c.1197G>A (p.Thr399=)
|
rs568288551
|
0.00001
|
|
NM_001199107.2(TBC1D24):c.1206+13C>T
|
rs376162122
|
0.00001
|
|
NM_001199107.2(TBC1D24):c.1206+7A>G
|
rs2065771868
|
0.00001
|
|
NM_001199107.2(TBC1D24):c.1207-11C>T
|
rs778247648
|
0.00001
|
|
NM_001199107.2(TBC1D24):c.1207-18C>T
|
rs372876116
|
0.00001
|
|
NM_001199107.2(TBC1D24):c.1209G>A (p.Val403=)
|
rs1165918189
|
0.00001
|
|
NM_001199107.2(TBC1D24):c.1260C>A (p.Gly420=)
|
rs761432102
|
0.00001
|
|
NM_001199107.2(TBC1D24):c.1302+17G>A
|
rs1173044946
|
0.00001
|
|
NM_001199107.2(TBC1D24):c.1302+9G>A
|
rs1197608274
|
0.00001
|
|
NM_001199107.2(TBC1D24):c.1303-14C>T
|
rs1211054848
|
0.00001
|
|
NM_001199107.2(TBC1D24):c.1353G>A (p.Glu451=)
|
rs1231827471
|
0.00001
|
|
NM_001199107.2(TBC1D24):c.1383C>T (p.Ala461=)
|
rs552951046
|
0.00001
|
|
NM_001199107.2(TBC1D24):c.1437C>T (p.Leu479=)
|
rs1406537159
|
0.00001
|
|
NM_001199107.2(TBC1D24):c.1446C>T (p.Phe482=)
|
rs2065782529
|
0.00001
|
|
NM_001199107.2(TBC1D24):c.1521C>T (p.Ile507=)
|
rs1269959991
|
0.00001
|
|
NM_001199107.2(TBC1D24):c.1525+13A>C
|
rs751260694
|
0.00001
|
|
NM_001199107.2(TBC1D24):c.1525+7G>A
|
rs1041091510
|
0.00001
|
|
NM_001199107.2(TBC1D24):c.1536C>T (p.Gly512=)
|
rs757328220
|
0.00001
|
|
NM_001199107.2(TBC1D24):c.1545G>A (p.Ala515=)
|
rs747350771
|
0.00001
|
|
NM_001199107.2(TBC1D24):c.1554C>T (p.Ile518=)
|
rs369958726
|
0.00001
|
|
NM_001199107.2(TBC1D24):c.1581A>G (p.Thr527=)
|
rs1217553094
|
0.00001
|
|
NM_001199107.2(TBC1D24):c.1590C>T (p.Cys530=)
|
rs1060502501
|
0.00001
|
|
NM_001199107.2(TBC1D24):c.27C>T (p.Phe9=)
|
rs759193465
|
0.00001
|
|
NM_001199107.2(TBC1D24):c.285C>T (p.Phe95=)
|
rs774354974
|
0.00001
|
|
NM_001199107.2(TBC1D24):c.312C>T (p.Tyr104=)
|
rs754301066
|
0.00001
|
|
NM_001199107.2(TBC1D24):c.378C>T (p.Pro126=)
|
rs765624033
|
0.00001
|
|
NM_001199107.2(TBC1D24):c.408C>T (p.Ala136=)
|
rs3810796
|
0.00001
|
|
NM_001199107.2(TBC1D24):c.414G>A (p.Val138=)
|
rs1015174831
|
0.00001
|
|
NM_001199107.2(TBC1D24):c.420G>A (p.Leu140=)
|
rs1400165650
|
0.00001
|
|
NM_001199107.2(TBC1D24):c.495C>G (p.Gly165=)
|
rs776661155
|
0.00001
|
|
NM_001199107.2(TBC1D24):c.630G>A (p.Ala210=)
|
rs776459372
|
0.00001
|
|
NM_001199107.2(TBC1D24):c.648G>C (p.Leu216=)
|
rs571126287
|
0.00001
|
|
NM_001199107.2(TBC1D24):c.64C>T (p.Leu22=)
|
rs746087403
|
0.00001
|
|
NM_001199107.2(TBC1D24):c.651T>C (p.Phe217=)
|
rs750100459
|
0.00001
|
|
NM_001199107.2(TBC1D24):c.690C>T (p.Asp230=)
|
rs749531792
|
0.00001
|
|
NM_001199107.2(TBC1D24):c.726C>T (p.Arg242=)
|
rs772786813
|
0.00001
|
|
NM_001199107.2(TBC1D24):c.732G>A (p.Ala244=)
|
rs554758752
|
0.00001
|
|
NM_001199107.2(TBC1D24):c.94C>T (p.Leu32=)
|
rs1246835125
|
0.00001
|
|
NM_001199107.2(TBC1D24):c.965+7C>T
|
rs1244113744
|
0.00001
|
|
NM_001199107.2(TBC1D24):c.965+8G>A
|
rs372247100
|
0.00001
|
|
NM_001199107.2(TBC1D24):c.969G>A (p.Val323=)
|
rs1054785696
|
0.00001
|
|
NM_001199107.2(TBC1D24):c.972A>C (p.Ser324=)
|
rs886043654
|
0.00001
|
|
NM_001199107.2(TBC1D24):c.983+15G>A
|
rs1172969040
|
0.00001
|
|
NM_001199107.2(TBC1D24):c.983+7C>T
|
rs778459711
|
0.00001
|
|
NM_001271.4(CHD2):c.1052+14C>G
|
rs146319346
|
0.00001
|
|
NM_001271.4(CHD2):c.1104G>A (p.Glu368=)
|
rs757569320
|
0.00001
|
|
NM_001271.4(CHD2):c.1154-6G>A
|
rs1275001828
|
0.00001
|
|
NM_001271.4(CHD2):c.1188A>G (p.Thr396=)
|
rs199553245
|
0.00001
|
|
NM_001271.4(CHD2):c.1199-9A>G
|
rs1210573353
|
0.00001
|
|
NM_001271.4(CHD2):c.1220C>T (p.Pro407Leu)
|
rs372219984
|
0.00001
|
|
NM_001271.4(CHD2):c.1248A>G (p.Lys416=)
|
rs1034535662
|
0.00001
|
|
NM_001271.4(CHD2):c.1317T>C (p.Asn439=)
|
rs753188917
|
0.00001
|
|
NM_001271.4(CHD2):c.1321A>T (p.Ile441Phe)
|
rs763586960
|
0.00001
|
|
NM_001271.4(CHD2):c.1335C>T (p.His445=)
|
rs140008471
|
0.00001
|
|
NM_001271.4(CHD2):c.1378-18T>C
|
rs748100193
|
0.00001
|
|
NM_001271.4(CHD2):c.1503-5T>C
|
rs1008040869
|
0.00001
|
|
NM_001271.4(CHD2):c.1503-6C>T
|
rs768998067
|
0.00001
|
|
NM_001271.4(CHD2):c.1572C>T (p.Ser524=)
|
rs1019484868
|
0.00001
|
|
NM_001271.4(CHD2):c.1578G>A (p.Leu526=)
|
rs763466775
|
0.00001
|
|
NM_001271.4(CHD2):c.159G>A (p.Ser53=)
|
rs552271683
|
0.00001
|
|
NM_001271.4(CHD2):c.1668A>G (p.Ala556=)
|
rs1060504937
|
0.00001
|
|
NM_001271.4(CHD2):c.174A>G (p.Glu58=)
|
rs1168929886
|
0.00001
|
|
NM_001271.4(CHD2):c.1764G>A (p.Lys588=)
|
rs139263117
|
0.00001
|
|
NM_001271.4(CHD2):c.1770C>T (p.Asn590=)
|
rs149947056
|
0.00001
|
|
NM_001271.4(CHD2):c.1810-11T>C
|
rs759545889
|
0.00001
|
|
NM_001271.4(CHD2):c.189G>T (p.Gln63His)
|
rs568998233
|
0.00001
|
|
NM_001271.4(CHD2):c.1914C>T (p.Ser638=)
|
rs1304257967
|
0.00001
|
|
NM_001271.4(CHD2):c.1968C>T (p.Leu656=)
|
rs1159091696
|
0.00001
|
|
NM_001271.4(CHD2):c.2037G>A (p.Gly679=)
|
rs1441816340
|
0.00001
|
|
NM_001271.4(CHD2):c.2098A>C (p.Arg700=)
|
rs776453537
|
0.00001
|
|
NM_001271.4(CHD2):c.219C>G (p.Ser73=)
|
rs140718403
|
0.00001
|
|
NM_001271.4(CHD2):c.2231C>T (p.Thr744Ile)
|
rs1359060187
|
0.00001
|
|
NM_001271.4(CHD2):c.2350C>T (p.Leu784=)
|
rs2053846480
|
0.00001
|
|
NM_001271.4(CHD2):c.249A>G (p.Lys83=)
|
rs990673547
|
0.00001
|
|
NM_001271.4(CHD2):c.24C>T (p.Ser8=)
|
rs1251726951
|
0.00001
|
|
NM_001271.4(CHD2):c.2505+19T>C
|
rs1057521420
|
0.00001
|
|
NM_001271.4(CHD2):c.2506-13T>C
|
rs751543942
|
0.00001
|
|
NM_001271.4(CHD2):c.2553C>T (p.Asp851=)
|
rs2053887874
|
0.00001
|
|
NM_001271.4(CHD2):c.2577+12A>C
|
rs769088995
|
0.00001
|
|
NM_001271.4(CHD2):c.2634A>G (p.Ser878=)
|
rs914239234
|
0.00001
|
|
NM_001271.4(CHD2):c.2745A>G (p.Leu915=)
|
rs1567150238
|
0.00001
|
|
NM_001271.4(CHD2):c.2751A>T (p.Thr917=)
|
rs1233513499
|
0.00001
|
|
NM_001271.4(CHD2):c.2802A>G (p.Val934=)
|
rs544488824
|
0.00001
|
|
NM_001271.4(CHD2):c.2843G>A (p.Arg948Gln)
|
rs1158357314
|
0.00001
|
|
NM_001271.4(CHD2):c.2865A>G (p.Ser955=)
|
rs769531663
|
0.00001
|
|
NM_001271.4(CHD2):c.2901G>A (p.Glu967=)
|
rs755608958
|
0.00001
|
|
NM_001271.4(CHD2):c.2907A>G (p.Thr969=)
|
rs2053970223
|
0.00001
|
|
NM_001271.4(CHD2):c.295-17G>A
|
rs757490818
|
0.00001
|
|
NM_001271.4(CHD2):c.295-18G>C
|
rs747188522
|
0.00001
|
|
NM_001271.4(CHD2):c.3006T>C (p.Ala1002=)
|
rs186862897
|
0.00001
|
|
NM_001271.4(CHD2):c.3066+8G>A
|
rs376968734
|
0.00001
|
|
NM_001271.4(CHD2):c.3067-16G>A
|
rs768858302
|
0.00001
|
|
NM_001271.4(CHD2):c.3067-6T>C
|
rs901346678
|
0.00001
|
|
NM_001271.4(CHD2):c.30G>A (p.Glu10=)
|
rs754725429
|
0.00001
|
|
NM_001271.4(CHD2):c.3177G>A (p.Glu1059=)
|
rs764787401
|
0.00001
|
|
NM_001271.4(CHD2):c.3180G>A (p.Arg1060=)
|
rs1005206801
|
0.00001
|
|
NM_001271.4(CHD2):c.3190C>T (p.Leu1064=)
|
rs752339272
|
0.00001
|
|
NM_001271.4(CHD2):c.3214C>A (p.Arg1072=)
|
rs767106034
|
0.00001
|
|
NM_001271.4(CHD2):c.3238-13C>T
|
rs368489730
|
0.00001
|
|
NM_001271.4(CHD2):c.3354G>C (p.Gly1118=)
|
rs747316316
|
0.00001
|
|
NM_001271.4(CHD2):c.3399T>C (p.Asp1133=)
|
rs972263908
|
0.00001
|
|
NM_001271.4(CHD2):c.3402A>G (p.Ala1134=)
|
rs1596438065
|
0.00001
|
|
NM_001271.4(CHD2):c.3444C>T (p.Leu1148=)
|
rs949834349
|
0.00001
|
|
NM_001271.4(CHD2):c.3455+9A>C
|
rs199958087
|
0.00001
|
|
NM_001271.4(CHD2):c.3456-16A>G
|
rs375354835
|
0.00001
|
|
NM_001271.4(CHD2):c.3456-19C>T
|
rs780531827
|
0.00001
|
|
NM_001271.4(CHD2):c.3456-6C>T
|
rs755464665
|
0.00001
|
|
NM_001271.4(CHD2):c.3483G>A (p.Glu1161=)
|
rs747595052
|
0.00001
|
|
NM_001271.4(CHD2):c.3510G>A (p.Leu1170=)
|
rs746728408
|
0.00001
|
|
NM_001271.4(CHD2):c.3570G>A (p.Glu1190=)
|
rs1304626183
|
0.00001
|
|
NM_001271.4(CHD2):c.357A>G (p.Pro119=)
|
rs770307318
|
0.00001
|
|
NM_001271.4(CHD2):c.3591C>T (p.Ser1197=)
|
rs753318183
|
0.00001
|
|
NM_001271.4(CHD2):c.3595+7G>A
|
rs527839842
|
0.00001
|
|
NM_001271.4(CHD2):c.3639C>T (p.Ser1213=)
|
rs373621677
|
0.00001
|
|
NM_001271.4(CHD2):c.3690G>A (p.Glu1230=)
|
rs113077918
|
0.00001
|
|
NM_001271.4(CHD2):c.3786G>A (p.Gly1262=)
|
rs1440327194
|
0.00001
|
|
NM_001271.4(CHD2):c.3828T>C (p.His1276=)
|
rs1171704093
|
0.00001
|
|
NM_001271.4(CHD2):c.3849A>G (p.Leu1283=)
|
rs1356992069
|
0.00001
|
|
NM_001271.4(CHD2):c.3894G>A (p.Pro1298=)
|
rs754764864
|
0.00001
|
|
NM_001271.4(CHD2):c.3924G>A (p.Lys1308=)
|
rs745873112
|
0.00001
|
|
NM_001271.4(CHD2):c.3952T>C (p.Leu1318=)
|
rs376550364
|
0.00001
|
|
NM_001271.4(CHD2):c.4008+8C>T
|
rs764966782
|
0.00001
|
|
NM_001271.4(CHD2):c.4009-13T>C
|
rs1161220634
|
0.00001
|
|
NM_001271.4(CHD2):c.4009G>T (p.Ala1337Ser)
|
rs776072657
|
0.00001
|
|
NM_001271.4(CHD2):c.4137+17C>T
|
rs761732184
|
0.00001
|
|
NM_001271.4(CHD2):c.4137+18G>A
|
rs1246012548
|
0.00001
|
|
NM_001271.4(CHD2):c.4137+9T>G
|
rs774237978
|
0.00001
|
|
NM_001271.4(CHD2):c.4149G>A (p.Leu1383=)
|
rs752784398
|
0.00001
|
|
NM_001271.4(CHD2):c.4227A>G (p.Lys1409=)
|
rs917584577
|
0.00001
|
|
NM_001271.4(CHD2):c.4278+15C>T
|
rs751745833
|
0.00001
|
|
NM_001271.4(CHD2):c.4278+8T>C
|
rs1340343354
|
0.00001
|
|
NM_001271.4(CHD2):c.4321T>G (p.Ser1441Ala)
|
rs1006566437
|
0.00001
|
|
NM_001271.4(CHD2):c.4363C>G (p.Pro1455Ala)
|
rs1184559933
|
0.00001
|
|
NM_001271.4(CHD2):c.4512C>T (p.Asn1504=)
|
rs750989875
|
0.00001
|
|
NM_001271.4(CHD2):c.4592+7A>G
|
rs1384519631
|
0.00001
|
|
NM_001271.4(CHD2):c.4629T>C (p.Phe1543=)
|
rs1488895664
|
0.00001
|
|
NM_001271.4(CHD2):c.4692+7T>C
|
rs748728212
|
0.00001
|
|
NM_001271.4(CHD2):c.4713C>T (p.Asp1571=)
|
rs749592290
|
0.00001
|
|
NM_001271.4(CHD2):c.4791C>T (p.Thr1597=)
|
rs560317096
|
0.00001
|
|
NM_001271.4(CHD2):c.4815G>A (p.Lys1605=)
|
rs2054437516
|
0.00001
|
|
NM_001271.4(CHD2):c.4906+20T>C
|
rs753889013
|
0.00001
|
|
NM_001271.4(CHD2):c.4907-9T>G
|
rs747965948
|
0.00001
|
|
NM_001271.4(CHD2):c.4976G>A (p.Ser1659Asn)
|
rs748829883
|
0.00001
|
|
NM_001271.4(CHD2):c.4992G>A (p.Gln1664=)
|
rs1289862557
|
0.00001
|
|
NM_001271.4(CHD2):c.5019C>T (p.His1673=)
|
rs767814807
|
0.00001
|
|
NM_001271.4(CHD2):c.5058C>T (p.Ser1686=)
|
rs199851404
|
0.00001
|
|
NM_001271.4(CHD2):c.5076C>T (p.Asn1692=)
|
rs901529415
|
0.00001
|
|
NM_001271.4(CHD2):c.5083T>C (p.Ser1695Pro)
|
rs757945055
|
0.00001
|
|
NM_001271.4(CHD2):c.5100T>C (p.Tyr1700=)
|
rs751251777
|
0.00001
|
|
NM_001271.4(CHD2):c.5120G>A (p.Arg1707Gln)
|
rs61759469
|
0.00001
|
|
NM_001271.4(CHD2):c.5121A>G (p.Arg1707=)
|
rs1429253236
|
0.00001
|
|
NM_001271.4(CHD2):c.5124C>T (p.Asp1708=)
|
rs768703416
|
0.00001
|
|
NM_001271.4(CHD2):c.5148T>C (p.Tyr1716=)
|
rs773497328
|
0.00001
|
|
NM_001271.4(CHD2):c.5184C>T (p.Ser1728=)
|
rs781575273
|
0.00001
|
|
NM_001271.4(CHD2):c.525A>G (p.Val175=)
|
rs369466744
|
0.00001
|
|
NM_001271.4(CHD2):c.5310G>A (p.Leu1770=)
|
rs1450537733
|
0.00001
|
|
NM_001271.4(CHD2):c.5328T>G (p.Pro1776=)
|
rs1243275651
|
0.00001
|
|
NM_001271.4(CHD2):c.53A>G (p.Asn18Ser)
|
rs1034044226
|
0.00001
|
|
NM_001271.4(CHD2):c.5437C>T (p.Leu1813=)
|
rs1160530295
|
0.00001
|
|
NM_001271.4(CHD2):c.543C>A (p.Val181=)
|
rs987898061
|
0.00001
|
|
NM_001271.4(CHD2):c.5478G>A (p.Arg1826=)
|
rs769748892
|
0.00001
|
|
NM_001271.4(CHD2):c.551+16A>G
|
rs1298978258
|
0.00001
|
|
NM_001271.4(CHD2):c.552-7A>G
|
rs374413766
|
0.00001
|
|
NM_001271.4(CHD2):c.602A>T (p.Lys201Met)
|
rs1369732003
|
0.00001
|
|
NM_001271.4(CHD2):c.660G>A (p.Arg220=)
|
rs1466513798
|
0.00001
|
|
NM_001271.4(CHD2):c.677C>T (p.Ala226Val)
|
rs1379301229
|
0.00001
|
|
NM_001271.4(CHD2):c.687C>T (p.Asn229=)
|
rs752009455
|
0.00001
|
|
NM_001271.4(CHD2):c.798C>G (p.Val266=)
|
rs1302498638
|
0.00001
|
|
NM_001271.4(CHD2):c.870C>T (p.Gly290=)
|
rs748380979
|
0.00001
|
|
NM_001271.4(CHD2):c.918G>A (p.Gln306=)
|
rs373093638
|
0.00001
|
|
NM_001323289.2(CDKL5):c.1038C>T (p.Ile346=)
|
rs754663076
|
0.00001
|
|
NM_001323289.2(CDKL5):c.1066G>C (p.Ala356Pro)
|
rs774594152
|
0.00001
|
|
NM_001323289.2(CDKL5):c.1086C>T (p.Ala362=)
|
rs761253221
|
0.00001
|
|
NM_001323289.2(CDKL5):c.1177A>G (p.Thr393Ala)
|
rs1187227979
|
0.00001
|
|
NM_001323289.2(CDKL5):c.1286C>T (p.Pro429Leu)
|
rs377263491
|
0.00001
|
|
NM_001323289.2(CDKL5):c.1386A>C (p.Glu462Asp)
|
rs748731763
|
0.00001
|
|
NM_001323289.2(CDKL5):c.1389G>A (p.Lys463=)
|
rs773733498
|
0.00001
|
|
NM_001323289.2(CDKL5):c.1446C>T (p.Tyr482=)
|
rs372655753
|
0.00001
|
|
NM_001323289.2(CDKL5):c.1452C>A (p.Thr484=)
|
rs760623086
|
0.00001
|
|
NM_001323289.2(CDKL5):c.1579C>T (p.Pro527Ser)
|
rs1275389347
|
0.00001
|
|
NM_001323289.2(CDKL5):c.1613C>T (p.Thr538Met)
|
rs1413837885
|
0.00001
|
|
NM_001323289.2(CDKL5):c.1636G>A (p.Gly546Arg)
|
rs587783153
|
0.00001
|
|
NM_001323289.2(CDKL5):c.1649G>A (p.Arg550Gln)
|
rs745508309
|
0.00001
|
|
NM_001323289.2(CDKL5):c.1676G>A (p.Arg559Gln)
|
rs1926294168
|
0.00001
|
|
NM_001323289.2(CDKL5):c.1684A>G (p.Thr562Ala)
|
rs376341076
|
0.00001
|
|
NM_001323289.2(CDKL5):c.1692T>C (p.His564=)
|
rs765011302
|
0.00001
|
|
NM_001323289.2(CDKL5):c.1752A>G (p.Ser584=)
|
rs1282721902
|
0.00001
|
|
NM_001323289.2(CDKL5):c.1786C>T (p.Leu596=)
|
rs776627003
|
0.00001
|
|
NM_001323289.2(CDKL5):c.1791C>T (p.Gly597=)
|
rs1238731278
|
0.00001
|
|
NM_001323289.2(CDKL5):c.1821T>G (p.Arg607=)
|
rs1352220667
|
0.00001
|
|
NM_001323289.2(CDKL5):c.1827T>C (p.His609=)
|
rs764272402
|
0.00001
|
|
NM_001323289.2(CDKL5):c.2031A>G (p.Thr677=)
|
rs1416458696
|
0.00001
|
|
NM_001323289.2(CDKL5):c.2046+16A>G
|
rs1157430431
|
0.00001
|
|
NM_001323289.2(CDKL5):c.2109A>T (p.Leu703=)
|
rs761789190
|
0.00001
|
|
NM_001323289.2(CDKL5):c.2152+14C>T
|
rs766682793
|
0.00001
|
|
NM_001323289.2(CDKL5):c.2152+9A>C
|
rs903712991
|
0.00001
|
|
NM_001323289.2(CDKL5):c.2194G>A (p.Val732Met)
|
rs888325600
|
0.00001
|
|
NM_001323289.2(CDKL5):c.2220A>G (p.Pro740=)
|
rs142079769
|
0.00001
|
|
NM_001323289.2(CDKL5):c.2241C>T (p.Thr747=)
|
rs753606345
|
0.00001
|
|
NM_001323289.2(CDKL5):c.2244C>T (p.Asn748=)
|
rs963899526
|
0.00001
|
|
NM_001323289.2(CDKL5):c.2272C>T (p.Pro758Ser)
|
rs1210870589
|
0.00001
|
|
NM_001323289.2(CDKL5):c.2277-7C>T
|
rs1245961569
|
0.00001
|
|
NM_001323289.2(CDKL5):c.2388C>T (p.Ser796=)
|
rs727503847
|
0.00001
|
|
NM_001323289.2(CDKL5):c.2496+14G>A
|
rs1189045100
|
0.00001
|
|
NM_001323289.2(CDKL5):c.2556G>A (p.Pro852=)
|
rs748905018
|
0.00001
|
|
NM_001323289.2(CDKL5):c.2679C>G (p.Pro893=)
|
rs777919249
|
0.00001
|
|
NM_001323289.2(CDKL5):c.333A>G (p.Lys111=)
|
rs786204955
|
0.00001
|
|
NM_001323289.2(CDKL5):c.404-9A>G
|
rs1037467164
|
0.00001
|
|
NM_001323289.2(CDKL5):c.555C>T (p.Gly185=)
|
rs904580767
|
0.00001
|
|
NM_001323289.2(CDKL5):c.576G>A (p.Val192=)
|
rs1461167746
|
0.00001
|
|
NM_001323289.2(CDKL5):c.65-13C>T
|
rs532222548
|
0.00001
|
|
NM_001323289.2(CDKL5):c.65-4A>G
|
rs777490768
|
0.00001
|
|
NM_001323289.2(CDKL5):c.858C>T (p.Tyr286=)
|
rs766511365
|
0.00001
|
|
NM_001323289.2(CDKL5):c.913C>T (p.Arg305Cys)
|
rs1064794671
|
0.00001
|
|
NM_001323289.2(CDKL5):c.933A>G (p.Ala311=)
|
rs1348754333
|
0.00001
|
|
NM_001323289.2(CDKL5):c.939A>G (p.Arg313=)
|
rs370986597
|
0.00001
|
|
NM_001330260.2(SCN8A):c.1041C>T (p.Asn347=)
|
rs763049043
|
0.00001
|
|
NM_001330260.2(SCN8A):c.1086A>G (p.Ala362=)
|
rs774882730
|
0.00001
|
|
NM_001330260.2(SCN8A):c.1104C>A (p.Thr368=)
|
rs371872378
|
0.00001
|
|
NM_001330260.2(SCN8A):c.1131A>G (p.Gln377=)
|
rs750815202
|
0.00001
|
|
NM_001330260.2(SCN8A):c.1134+7A>G
|
rs1941715420
|
0.00001
|
|
NM_001330260.2(SCN8A):c.1135-13T>C
|
rs1057520363
|
0.00001
|
|
NM_001330260.2(SCN8A):c.1152G>C (p.Gly384=)
|
rs759112194
|
0.00001
|
|
NM_001330260.2(SCN8A):c.1155A>G (p.Lys385=)
|
rs764896192
|
0.00001
|
|
NM_001330260.2(SCN8A):c.1204C>T (p.Leu402=)
|
rs1057522082
|
0.00001
|
|
NM_001330260.2(SCN8A):c.120C>T (p.Ala40=)
|
rs145881860
|
0.00001
|
|
NM_001330260.2(SCN8A):c.1278A>G (p.Glu426=)
|
rs749572965
|
0.00001
|
|
NM_001330260.2(SCN8A):c.1342-18C>T
|
rs763911558
|
0.00001
|
|
NM_001330260.2(SCN8A):c.1342-8T>C
|
rs371035550
|
0.00001
|
|
NM_001330260.2(SCN8A):c.1419C>T (p.Ser473=)
|
rs747607755
|
0.00001
|
|
NM_001330260.2(SCN8A):c.1516G>A (p.Gly506Arg)
|
rs758393038
|
0.00001
|
|
NM_001330260.2(SCN8A):c.1566T>C (p.Asp522=)
|
rs768201816
|
0.00001
|
|
NM_001330260.2(SCN8A):c.1621T>G (p.Ser541Ala)
|
rs753587420
|
0.00001
|
|
NM_001330260.2(SCN8A):c.1644C>T (p.Leu548=)
|
rs1289888622
|
0.00001
|
|
NM_001330260.2(SCN8A):c.1666C>G (p.Leu556Val)
|
rs773118948
|
0.00001
|
|
NM_001330260.2(SCN8A):c.1686G>A (p.Lys562=)
|
rs764350935
|
0.00001
|
|
NM_001330260.2(SCN8A):c.1737C>T (p.Ser579=)
|
rs770853019
|
0.00001
|
|
NM_001330260.2(SCN8A):c.1740G>A (p.Glu580=)
|
rs776479136
|
0.00001
|
|
NM_001330260.2(SCN8A):c.1752G>A (p.Ala584=)
|
rs775442359
|
0.00001
|
|
NM_001330260.2(SCN8A):c.1758C>T (p.Asp586=)
|
rs553897060
|
0.00001
|
|
NM_001330260.2(SCN8A):c.1790G>A (p.Arg597His)
|
rs755358223
|
0.00001
|
|
NM_001330260.2(SCN8A):c.1810C>T (p.Pro604Ser)
|
rs1285097368
|
0.00001
|
|
NM_001330260.2(SCN8A):c.1821C>G (p.Ala607=)
|
rs1329004407
|
0.00001
|
|
NM_001330260.2(SCN8A):c.1830C>G (p.Arg610=)
|
rs1178224820
|
0.00001
|
|
NM_001330260.2(SCN8A):c.1851C>T (p.Tyr617=)
|
rs201848186
|
0.00001
|
|
NM_001330260.2(SCN8A):c.1908C>T (p.Ser636=)
|
rs1053543226
|
0.00001
|
|
NM_001330260.2(SCN8A):c.1915C>T (p.Arg639Cys)
|
rs368345284
|
0.00001
|
|
NM_001330260.2(SCN8A):c.1926G>A (p.Thr642=)
|
rs768639779
|
0.00001
|
|
NM_001330260.2(SCN8A):c.1998+7A>C
|
rs1420786793
|
0.00001
|
|
NM_001330260.2(SCN8A):c.2160G>A (p.Pro720=)
|
rs967922373
|
0.00001
|
|
NM_001330260.2(SCN8A):c.2371-18C>T
|
rs1034484677
|
0.00001
|
|
NM_001330260.2(SCN8A):c.2508C>T (p.Asp836=)
|
rs772945312
|
0.00001
|
|
NM_001330260.2(SCN8A):c.2545-4T>G
|
rs1175986621
|
0.00001
|
|
NM_001330260.2(SCN8A):c.2545-8_2545-7insC
|
rs754698110
|
0.00001
|
|
NM_001330260.2(SCN8A):c.2565C>G (p.Ala855=)
|
rs1267438332
|
0.00001
|
|
NM_001330260.2(SCN8A):c.261C>T (p.Tyr87=)
|
rs1484586967
|
0.00001
|
|
NM_001330260.2(SCN8A):c.2733C>T (p.Asp911=)
|
rs763201344
|
0.00001
|
|
NM_001330260.2(SCN8A):c.276+12G>A
|
rs756447486
|
0.00001
|
|
NM_001330260.2(SCN8A):c.2928C>T (p.Leu976=)
|
rs766935372
|
0.00001
|
|
NM_001330260.2(SCN8A):c.3045G>A (p.Val1015=)
|
rs1357752989
|
0.00001
|
|
NM_001330260.2(SCN8A):c.3048C>T (p.His1016=)
|
rs777076650
|
0.00001
|
|
NM_001330260.2(SCN8A):c.3084T>C (p.Ala1028=)
|
rs772371811
|
0.00001
|
|
NM_001330260.2(SCN8A):c.3183G>A (p.Lys1061=)
|
rs749118803
|
0.00001
|
|
NM_001330260.2(SCN8A):c.324C>T (p.Ala108=)
|
rs146485624
|
0.00001
|
|
NM_001330260.2(SCN8A):c.3264C>T (p.Asn1088=)
|
rs763620762
|
0.00001
|
|
NM_001330260.2(SCN8A):c.3266A>G (p.Asn1089Ser)
|
rs774119406
|
0.00001
|
|
NM_001330260.2(SCN8A):c.327G>A (p.Thr109=)
|
rs766693813
|
0.00001
|
|
NM_001330260.2(SCN8A):c.3327C>T (p.Asn1109=)
|
rs1349215930
|
0.00001
|
|
NM_001330260.2(SCN8A):c.3435G>A (p.Glu1145=)
|
rs771822630
|
0.00001
|
|
NM_001330260.2(SCN8A):c.3491-17T>C
|
rs1463801833
|
0.00001
|
|
NM_001330260.2(SCN8A):c.3529G>A (p.Glu1177Lys)
|
rs148742419
|
0.00001
|
|
NM_001330260.2(SCN8A):c.3640G>A (p.Ala1214Thr)
|
rs769243993
|
0.00001
|
|
NM_001330260.2(SCN8A):c.3645+19T>G
|
rs1057521948
|
0.00001
|
|
NM_001330260.2(SCN8A):c.3646-15C>T
|
rs1942972612
|
0.00001
|
|
NM_001330260.2(SCN8A):c.3681C>T (p.Thr1227=)
|
rs771709180
|
0.00001
|
|
NM_001330260.2(SCN8A):c.3686G>A (p.Arg1229His)
|
rs1020998191
|
0.00001
|
|
NM_001330260.2(SCN8A):c.3708C>T (p.Asp1236=)
|
rs1353166540
|
0.00001
|
|
NM_001330260.2(SCN8A):c.3738G>A (p.Glu1246=)
|
rs376953145
|
0.00001
|
|
NM_001330260.2(SCN8A):c.3765C>T (p.Gly1255=)
|
rs1478794416
|
0.00001
|
|
NM_001330260.2(SCN8A):c.3768C>T (p.Phe1256=)
|
rs767706770
|
0.00001
|
|
NM_001330260.2(SCN8A):c.395+12G>A
|
rs777843626
|
0.00001
|
|
NM_001330260.2(SCN8A):c.396-5T>C
|
rs764928471
|
0.00001
|
|
NM_001330260.2(SCN8A):c.3999G>A (p.Val1333=)
|
rs796053208
|
0.00001
|
|
NM_001330260.2(SCN8A):c.4056G>A (p.Lys1352=)
|
rs1254764629
|
0.00001
|
|
NM_001330260.2(SCN8A):c.4203A>G (p.Ala1401=)
|
rs1395201809
|
0.00001
|
|
NM_001330260.2(SCN8A):c.4218T>C (p.Leu1406=)
|
rs768214178
|
0.00001
|
|
NM_001330260.2(SCN8A):c.4517G>A (p.Arg1506His)
|
rs760096460
|
0.00001
|
|
NM_001330260.2(SCN8A):c.4524+9A>G
|
rs1938217961
|
0.00001
|
|
NM_001330260.2(SCN8A):c.4542C>T (p.Ile1514=)
|
rs370105734
|
0.00001
|
|
NM_001330260.2(SCN8A):c.4548T>C (p.Phe1516=)
|
rs367943033
|
0.00001
|
|
NM_001330260.2(SCN8A):c.4563G>A (p.Gln1521=)
|
rs1234397024
|
0.00001
|
|
NM_001330260.2(SCN8A):c.4593C>T (p.Leu1531=)
|
rs371638930
|
0.00001
|
|
NM_001330260.2(SCN8A):c.4634C>T (p.Thr1545Ile)
|
rs759753811
|
0.00001
|
|
NM_001330260.2(SCN8A):c.4644G>A (p.Lys1548=)
|
rs753193934
|
0.00001
|
|
NM_001330260.2(SCN8A):c.4656C>T (p.Asn1552=)
|
rs1343879999
|
0.00001
|
|
NM_001330260.2(SCN8A):c.4743C>T (p.Phe1581=)
|
rs919899554
|
0.00001
|
|
NM_001330260.2(SCN8A):c.4796-8C>T
|
rs758151653
|
0.00001
|
|
NM_001330260.2(SCN8A):c.4806G>A (p.Leu1602=)
|
rs777710912
|
0.00001
|
|
NM_001330260.2(SCN8A):c.4884G>A (p.Leu1628=)
|
rs749428493
|
0.00001
|
|
NM_001330260.2(SCN8A):c.4899C>T (p.Gly1633=)
|
rs762240754
|
0.00001
|
|
NM_001330260.2(SCN8A):c.492G>A (p.Thr164=)
|
rs762641381
|
0.00001
|
|
NM_001330260.2(SCN8A):c.4968T>C (p.Leu1656=)
|
rs371478132
|
0.00001
|
|
NM_001330260.2(SCN8A):c.4978C>T (p.Leu1660=)
|
rs1938705333
|
0.00001
|
|
NM_001330260.2(SCN8A):c.5025T>C (p.Tyr1675=)
|
rs1395464489
|
0.00001
|
|
NM_001330260.2(SCN8A):c.5034C>T (p.His1678=)
|
rs533725421
|
0.00001
|
|
NM_001330260.2(SCN8A):c.510A>G (p.Thr170=)
|
rs773697137
|
0.00001
|
|
NM_001330260.2(SCN8A):c.5118T>C (p.Gly1706=)
|
rs776753024
|
0.00001
|
|
NM_001330260.2(SCN8A):c.5220A>G (p.Ser1740=)
|
rs770554062
|
0.00001
|
|
NM_001330260.2(SCN8A):c.5304C>T (p.Asn1768=)
|
rs201212878
|
0.00001
|
|
NM_001330260.2(SCN8A):c.5385C>T (p.Phe1795=)
|
rs748215769
|
0.00001
|
|
NM_001330260.2(SCN8A):c.5391C>T (p.Pro1797=)
|
rs372155701
|
0.00001
|
|
NM_001330260.2(SCN8A):c.5628C>T (p.Ser1876=)
|
rs200910225
|
0.00001
|
|
NM_001330260.2(SCN8A):c.564C>G (p.Thr188=)
|
rs886049581
|
0.00001
|
|
NM_001330260.2(SCN8A):c.5675G>A (p.Arg1892His)
|
rs1565934531
|
0.00001
|
|
NM_001330260.2(SCN8A):c.5760A>C (p.Thr1920=)
|
rs781617696
|
0.00001
|
|
NM_001330260.2(SCN8A):c.5760A>G (p.Thr1920=)
|
rs781617696
|
0.00001
|
|
NM_001330260.2(SCN8A):c.579A>G (p.Pro193=)
|
rs755900174
|
0.00001
|
|
NM_001330260.2(SCN8A):c.5835G>A (p.Pro1945=)
|
rs776428412
|
0.00001
|
|
NM_001330260.2(SCN8A):c.5847T>C (p.Ser1949=)
|
rs751637843
|
0.00001
|
|
NM_001330260.2(SCN8A):c.5883A>G (p.Ala1961=)
|
rs750830277
|
0.00001
|
|
NM_001330260.2(SCN8A):c.615-251G>A
|
rs1356416543
|
0.00001
|
|
NM_001330260.2(SCN8A):c.639G>C (p.Leu213=)
|
rs759294229
|
0.00001
|
|
NM_001330260.2(SCN8A):c.666C>T (p.Phe222=)
|
rs1941465183
|
0.00001
|
|
NM_001330260.2(SCN8A):c.693C>T (p.Ile231=)
|
rs1190792467
|
0.00001
|
|
NM_001330260.2(SCN8A):c.707-20C>T
|
rs541348760
|
0.00001
|
|
NM_001330260.2(SCN8A):c.726T>A (p.Gly242=)
|
rs779319824
|
0.00001
|
|
NM_001330260.2(SCN8A):c.768C>A (p.Ile256=)
|
rs1231477580
|
0.00001
|
|
NM_001330260.2(SCN8A):c.81G>A (p.Arg27=)
|
rs748777974
|
0.00001
|
|
NM_001330260.2(SCN8A):c.903T>C (p.Asp301=)
|
rs759557451
|
0.00001
|
|
NM_001330260.2(SCN8A):c.929-4C>G
|
rs771227940
|
0.00001
|
|
NM_001330260.2(SCN8A):c.975G>A (p.Gly325=)
|
rs765299562
|
0.00001
|
|
NM_001330260.2(SCN8A):c.992+8G>A
|
rs764584884
|
0.00001
|
|
NM_001330723.2(SNX27):c.1218C>T (p.Tyr406=)
|
rs201966711
|
0.00001
|
|
NM_001330723.2(SNX27):c.1323C>T (p.His441=)
|
rs758182367
|
0.00001
|
|
NM_001330723.2(SNX27):c.1390-4C>T
|
rs1310809977
|
0.00001
|
|
NM_001330723.2(SNX27):c.1578+18T>C
|
rs781549825
|
0.00001
|
|
NM_001330723.2(SNX27):c.189G>A (p.Glu63=)
|
rs759507012
|
0.00001
|
|
NM_001330723.2(SNX27):c.198A>G (p.Gln66=)
|
rs1002510480
|
0.00001
|
|
NM_001330723.2(SNX27):c.199C>T (p.Leu67=)
|
rs375213675
|
0.00001
|
|
NM_001330723.2(SNX27):c.249C>T (p.Ala83=)
|
rs779378055
|
0.00001
|
|
NM_001330723.2(SNX27):c.252G>C (p.Val84=)
|
rs1415146870
|
0.00001
|
|
NM_001330723.2(SNX27):c.264G>T (p.Gly88=)
|
rs369017951
|
0.00001
|
|
NM_001330723.2(SNX27):c.318C>T (p.His106=)
|
rs574875506
|
0.00001
|
|
NM_001330723.2(SNX27):c.336G>A (p.Ala112=)
|
rs567918235
|
0.00001
|
|
NM_001330723.2(SNX27):c.342C>T (p.His114=)
|
rs777998061
|
0.00001
|
|
NM_001330723.2(SNX27):c.345G>A (p.Lys115=)
|
rs371439707
|
0.00001
|
|
NM_001330723.2(SNX27):c.441C>T (p.Asp147=)
|
rs769491747
|
0.00001
|
|
NM_001330723.2(SNX27):c.543+6_543+7insA
|
rs778540185
|
0.00001
|
|
NM_001330723.2(SNX27):c.546A>G (p.Val182=)
|
rs1035538892
|
0.00001
|
|
NM_001330723.2(SNX27):c.603T>C (p.Ala201=)
|
rs750670612
|
0.00001
|
|
NM_001330723.2(SNX27):c.737-13T>C
|
rs752497304
|
0.00001
|
|
NM_001330723.2(SNX27):c.737-6C>T
|
rs1030343321
|
0.00001
|
|
NM_001330723.2(SNX27):c.75G>A (p.Gly25=)
|
rs777499754
|
0.00001
|
|
NM_001330723.2(SNX27):c.786A>G (p.Leu262=)
|
rs745510590
|
0.00001
|
|
NM_001330723.2(SNX27):c.801+15C>G
|
rs777119235
|
0.00001
|
|
NM_001330723.2(SNX27):c.907-17A>G
|
rs762930553
|
0.00001
|
|
NM_001330723.2(SNX27):c.948T>C (p.Asn316=)
|
rs780135529
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.1116C>T (p.Arg372=)
|
rs1556334992
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.1194C>T (p.Ala398=)
|
rs1556334802
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.1245G>A (p.Lys415=)
|
rs781947373
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.1257A>G (p.Glu419=)
|
rs1556334685
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.1322-17A>T
|
rs782417263
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.1391-12C>T
|
rs2047417425
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.1391-5T>C
|
rs1181371428
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.1391-7A>G
|
rs1602145711
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.1434G>A (p.Pro478=)
|
rs782705959
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.1482T>C (p.Ala494=)
|
rs782665661
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.1518C>T (p.Arg506=)
|
rs782806516
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.252C>T (p.Ser84=)
|
rs1367866917
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.264C>T (p.Asn88=)
|
rs782671712
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.30+20G>A
|
rs1556464456
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.31-10G>T
|
rs782313914
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.366G>A (p.Glu122=)
|
rs781834665
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.408T>C (p.Tyr136=)
|
rs782079969
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.432G>A (p.Arg144=)
|
rs781937951
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.720T>C (p.Ile240=)
|
rs1556365249
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.726C>T (p.Ile242=)
|
rs1556365224
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.759C>A (p.Ile253=)
|
rs782598343
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.946-19C>A
|
rs1159447904
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.948C>T (p.Gly316=)
|
rs141158169
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.972G>A (p.Ser324=)
|
rs1556347447
|
0.00001
|
|
NM_001367561.1(DOCK7):c.1137A>G (p.Lys379=)
|
rs1334193735
|
0.00001
|
|
NM_001367561.1(DOCK7):c.1142A>G (p.Lys381Arg)
|
rs148287864
|
0.00001
|
|
NM_001367561.1(DOCK7):c.1152A>G (p.Ala384=)
|
rs762174084
|
0.00001
|
|
NM_001367561.1(DOCK7):c.1182T>C (p.Tyr394=)
|
rs768933704
|
0.00001
|
|
NM_001367561.1(DOCK7):c.1197T>G (p.Ala399=)
|
rs1445424043
|
0.00001
|
|
NM_001367561.1(DOCK7):c.1293G>T (p.Gly431=)
|
rs777222905
|
0.00001
|
|
NM_001367561.1(DOCK7):c.1401C>T (p.Leu467=)
|
rs372912871
|
0.00001
|
|
NM_001367561.1(DOCK7):c.144+9C>T
|
rs376840551
|
0.00001
|
|
NM_001367561.1(DOCK7):c.145-18T>C
|
rs368283475
|
0.00001
|
|
NM_001367561.1(DOCK7):c.1536C>T (p.Asp512=)
|
rs763362726
|
0.00001
|
|
NM_001367561.1(DOCK7):c.1566T>C (p.Tyr522=)
|
rs746887369
|
0.00001
|
|
NM_001367561.1(DOCK7):c.1682+7G>A
|
rs776242599
|
0.00001
|
|
NM_001367561.1(DOCK7):c.1683-4A>G
|
rs760576100
|
0.00001
|
|
NM_001367561.1(DOCK7):c.1710T>C (p.Ser570=)
|
rs750270060
|
0.00001
|
|
NM_001367561.1(DOCK7):c.1731A>G (p.Gln577=)
|
rs1175042334
|
0.00001
|
|
NM_001367561.1(DOCK7):c.1801-15T>G
|
rs755632329
|
0.00001
|
|
NM_001367561.1(DOCK7):c.1872-4G>T
|
rs1217159558
|
0.00001
|
|
NM_001367561.1(DOCK7):c.1956T>C (p.His652=)
|
rs1647023268
|
0.00001
|
|
NM_001367561.1(DOCK7):c.2232C>A (p.Val744=)
|
rs754964576
|
0.00001
|
|
NM_001367561.1(DOCK7):c.2238T>C (p.Ala746=)
|
rs756563206
|
0.00001
|
|
NM_001367561.1(DOCK7):c.2283C>T (p.Ile761=)
|
rs765143942
|
0.00001
|
|
NM_001367561.1(DOCK7):c.2352A>G (p.Pro784=)
|
rs768789729
|
0.00001
|
|
NM_001367561.1(DOCK7):c.2355G>A (p.Val785=)
|
rs202200051
|
0.00001
|
|
NM_001367561.1(DOCK7):c.2432-14T>A
|
rs753780305
|
0.00001
|
|
NM_001367561.1(DOCK7):c.2445A>G (p.Gln815=)
|
rs763103821
|
0.00001
|
|
NM_001367561.1(DOCK7):c.258T>C (p.Asp86=)
|
rs767000347
|
0.00001
|
|
NM_001367561.1(DOCK7):c.2601T>C (p.Pro867=)
|
rs762234342
|
0.00001
|
|
NM_001367561.1(DOCK7):c.2652G>A (p.Val884=)
|
rs368758793
|
0.00001
|
|
NM_001367561.1(DOCK7):c.2757C>T (p.Ile919=)
|
rs752071248
|
0.00001
|
|
NM_001367561.1(DOCK7):c.2766+8G>A
|
rs578026947
|
0.00001
|
|
NM_001367561.1(DOCK7):c.2767-14_2767-11dup
|
rs1363396999
|
0.00001
|
|
NM_001367561.1(DOCK7):c.2856A>G (p.Thr952=)
|
rs1301266605
|
0.00001
|
|
NM_001367561.1(DOCK7):c.2859+10A>G
|
rs919748754
|
0.00001
|
|
NM_001367561.1(DOCK7):c.3045+12C>G
|
rs756833670
|
0.00001
|
|
NM_001367561.1(DOCK7):c.3045+16G>T
|
rs777176947
|
0.00001
|
|
NM_001367561.1(DOCK7):c.3096A>G (p.Pro1032=)
|
rs776201557
|
0.00001
|
|
NM_001367561.1(DOCK7):c.3099G>A (p.Arg1033=)
|
rs151021096
|
0.00001
|
|
NM_001367561.1(DOCK7):c.3117A>G (p.Glu1039=)
|
rs1645467789
|
0.00001
|
|
NM_001367561.1(DOCK7):c.312T>C (p.Pro104=)
|
rs1458250646
|
0.00001
|
|
NM_001367561.1(DOCK7):c.3153G>A (p.Thr1051=)
|
rs747653225
|
0.00001
|
|
NM_001367561.1(DOCK7):c.3187-8T>C
|
rs1302809905
|
0.00001
|
|
NM_001367561.1(DOCK7):c.3321A>G (p.Ser1107=)
|
rs532161091
|
0.00001
|
|
NM_001367561.1(DOCK7):c.3447T>C (p.Pro1149=)
|
rs1175817100
|
0.00001
|
|
NM_001367561.1(DOCK7):c.3472-10T>C
|
rs1373178711
|
0.00001
|
|
NM_001367561.1(DOCK7):c.3546A>G (p.Gln1182=)
|
rs760052391
|
0.00001
|
|
NM_001367561.1(DOCK7):c.3573A>G (p.Leu1191=)
|
rs1261151829
|
0.00001
|
|
NM_001367561.1(DOCK7):c.360T>C (p.Tyr120=)
|
rs375019438
|
0.00001
|
|
NM_001367561.1(DOCK7):c.3681G>A (p.Pro1227=)
|
rs763991514
|
0.00001
|
|
NM_001367561.1(DOCK7):c.3891G>A (p.Ser1297=)
|
rs751882084
|
0.00001
|
|
NM_001367561.1(DOCK7):c.39-7A>G
|
rs1464977808
|
0.00001
|
|
NM_001367561.1(DOCK7):c.3901C>T (p.Leu1301=)
|
rs1164361624
|
0.00001
|
|
NM_001367561.1(DOCK7):c.3903A>G (p.Leu1301=)
|
rs758476791
|
0.00001
|
|
NM_001367561.1(DOCK7):c.3937-18A>G
|
rs188810618
|
0.00001
|
|
NM_001367561.1(DOCK7):c.3996A>G (p.Leu1332=)
|
rs1359084505
|
0.00001
|
|
NM_001367561.1(DOCK7):c.4074G>T (p.Arg1358=)
|
rs1644572673
|
0.00001
|
|
NM_001367561.1(DOCK7):c.420C>T (p.Pro140=)
|
rs1456788832
|
0.00001
|
|
NM_001367561.1(DOCK7):c.4265C>A (p.Thr1422Lys)
|
rs1218432289
|
0.00001
|
|
NM_001367561.1(DOCK7):c.4350C>T (p.His1450=)
|
rs766419183
|
0.00001
|
|
NM_001367561.1(DOCK7):c.4380-5A>G
|
rs556402730
|
0.00001
|
|
NM_001367561.1(DOCK7):c.444A>G (p.Glu148=)
|
rs199695625
|
0.00001
|
|
NM_001367561.1(DOCK7):c.4476+11A>C
|
rs750632374
|
0.00001
|
|
NM_001367561.1(DOCK7):c.4476+14G>A
|
rs1444505496
|
0.00001
|
|
NM_001367561.1(DOCK7):c.4477-18T>C
|
rs770468194
|
0.00001
|
|
NM_001367561.1(DOCK7):c.4497C>G (p.Ser1499=)
|
rs145123324
|
0.00001
|
|
NM_001367561.1(DOCK7):c.4765-15A>C
|
rs370399154
|
0.00001
|
|
NM_001367561.1(DOCK7):c.4770T>C (p.Phe1590=)
|
rs751215423
|
0.00001
|
|
NM_001367561.1(DOCK7):c.4788G>A (p.Gln1596=)
|
rs1646625398
|
0.00001
|
|
NM_001367561.1(DOCK7):c.4924-19A>C
|
rs775435967
|
0.00001
|
|
NM_001367561.1(DOCK7):c.4950T>C (p.His1650=)
|
rs569735700
|
0.00001
|
|
NM_001367561.1(DOCK7):c.5016A>G (p.Leu1672=)
|
rs150310084
|
0.00001
|
|
NM_001367561.1(DOCK7):c.5034G>A (p.Lys1678=)
|
rs1354555897
|
0.00001
|
|
NM_001367561.1(DOCK7):c.5112T>C (p.His1704=)
|
rs753957170
|
0.00001
|
|
NM_001367561.1(DOCK7):c.5190T>C (p.Tyr1730=)
|
rs1347017805
|
0.00001
|
|
NM_001367561.1(DOCK7):c.5217+20A>G
|
rs1273448378
|
0.00001
|
|
NM_001367561.1(DOCK7):c.528T>A (p.Leu176=)
|
rs371502523
|
0.00001
|
|
NM_001367561.1(DOCK7):c.5343A>G (p.Ala1781=)
|
rs1646502495
|
0.00001
|
|
NM_001367561.1(DOCK7):c.5362-11T>A
|
rs752146447
|
0.00001
|
|
NM_001367561.1(DOCK7):c.5493+19A>G
|
rs747044879
|
0.00001
|
|
NM_001367561.1(DOCK7):c.5598A>G (p.Ala1866=)
|
rs1247001598
|
0.00001
|
|
NM_001367561.1(DOCK7):c.5688T>C (p.Ser1896=)
|
rs1224668006
|
0.00001
|
|
NM_001367561.1(DOCK7):c.5725-20A>G
|
rs372761510
|
0.00001
|
|
NM_001367561.1(DOCK7):c.5725-6T>C
|
rs1645958508
|
0.00001
|
|
NM_001367561.1(DOCK7):c.5725-8T>C
|
rs143636768
|
0.00001
|
|
NM_001367561.1(DOCK7):c.5796C>T (p.Phe1932=)
|
rs771762947
|
0.00001
|
|
NM_001367561.1(DOCK7):c.5907G>A (p.Thr1969=)
|
rs765400205
|
0.00001
|
|
NM_001367561.1(DOCK7):c.6009G>A (p.Lys2003=)
|
rs539480591
|
0.00001
|
|
NM_001367561.1(DOCK7):c.6106-4G>T
|
rs376514981
|
0.00001
|
|
NM_001367561.1(DOCK7):c.6106-9A>G
|
rs770781027
|
0.00001
|
|
NM_001367561.1(DOCK7):c.624C>T (p.Pro208=)
|
rs200197066
|
0.00001
|
|
NM_001367561.1(DOCK7):c.6285G>A (p.Glu2095=)
|
rs1645384711
|
0.00001
|
|
NM_001367561.1(DOCK7):c.6291C>T (p.Asn2097=)
|
rs1302012794
|
0.00001
|
|
NM_001367561.1(DOCK7):c.6327C>A (p.Ile2109=)
|
rs1254157111
|
0.00001
|
|
NM_001367561.1(DOCK7):c.6381-14C>T
|
rs1388341626
|
0.00001
|
|
NM_001367561.1(DOCK7):c.741A>G (p.Pro247=)
|
rs766626818
|
0.00001
|
|
NM_001367561.1(DOCK7):c.75A>T (p.Gly25=)
|
rs1390049924
|
0.00001
|
|
NM_001367561.1(DOCK7):c.810A>G (p.Leu270=)
|
rs780886417
|
0.00001
|
|
NM_001367561.1(DOCK7):c.870C>T (p.Val290=)
|
rs1405369707
|
0.00001
|
|
NM_001958.5(EEF1A2):c.1029+9C>T
|
rs2082373589
|
0.00001
|
|
NM_001958.5(EEF1A2):c.1030-5C>T
|
rs1428414395
|
0.00001
|
|
NM_001958.5(EEF1A2):c.1065C>T (p.Ala355=)
|
rs998259316
|
0.00001
|
|
NM_001958.5(EEF1A2):c.1104C>T (p.Ile368=)
|
rs965429825
|
0.00001
|
|
NM_001958.5(EEF1A2):c.120G>A (p.Glu40=)
|
rs897078195
|
0.00001
|
|
NM_001958.5(EEF1A2):c.1264+8G>A
|
rs940966378
|
0.00001
|
|
NM_001958.5(EEF1A2):c.1265-4C>A
|
rs562688898
|
0.00001
|
|
NM_001958.5(EEF1A2):c.1265-9G>T
|
rs2082362753
|
0.00001
|
|
NM_001958.5(EEF1A2):c.126C>T (p.Phe42=)
|
rs746596211
|
0.00001
|
|
NM_001958.5(EEF1A2):c.1338C>T (p.Gly446=)
|
rs779261770
|
0.00001
|
|
NM_001958.5(EEF1A2):c.138G>A (p.Ala46=)
|
rs1212477042
|
0.00001
|
|
NM_001958.5(EEF1A2):c.145-7G>T
|
rs536472004
|
0.00001
|
|
NM_001958.5(EEF1A2):c.240C>T (p.Phe80=)
|
rs777444750
|
0.00001
|
|
NM_001958.5(EEF1A2):c.325-7C>T
|
rs760916766
|
0.00001
|
|
NM_001958.5(EEF1A2):c.325-8C>T
|
rs769119480
|
0.00001
|
|
NM_001958.5(EEF1A2):c.363C>T (p.Gly121=)
|
rs746290505
|
0.00001
|
|
NM_001958.5(EEF1A2):c.387G>A (p.Lys129=)
|
rs754118857
|
0.00001
|
|
NM_001958.5(EEF1A2):c.412C>T (p.Leu138=)
|
rs900745409
|
0.00001
|
|
NM_001958.5(EEF1A2):c.426G>A (p.Thr142=)
|
rs751391189
|
0.00001
|
|
NM_001958.5(EEF1A2):c.447C>T (p.Ile149=)
|
rs772964838
|
0.00001
|
|
NM_001958.5(EEF1A2):c.459C>T (p.Asn153=)
|
rs761190222
|
0.00001
|
|
NM_001958.5(EEF1A2):c.45C>T (p.His15=)
|
rs546748631
|
0.00001
|
|
NM_001958.5(EEF1A2):c.489C>T (p.Ser163=)
|
rs138632721
|
0.00001
|
|
NM_001958.5(EEF1A2):c.501C>T (p.Tyr167=)
|
rs773761730
|
0.00001
|
|
NM_001958.5(EEF1A2):c.510C>T (p.Ile170=)
|
rs1425598851
|
0.00001
|
|
NM_001958.5(EEF1A2):c.621+19G>A
|
rs982607125
|
0.00001
|
|
NM_001958.5(EEF1A2):c.622-4C>G
|
rs1313830443
|
0.00001
|
|
NM_001958.5(EEF1A2):c.626C>T (p.Pro209Leu)
|
rs768753735
|
0.00001
|
|
NM_001958.5(EEF1A2):c.638G>T (p.Gly213Val)
|
rs1390638586
|
0.00001
|
|
NM_001958.5(EEF1A2):c.666C>T (p.Asn222=)
|
rs1023284810
|
0.00001
|
|
NM_001958.5(EEF1A2):c.667G>A (p.Ala223Thr)
|
rs778585590
|
0.00001
|
|
NM_001958.5(EEF1A2):c.693C>T (p.Ala231=)
|
rs888357801
|
0.00001
|
|
NM_001958.5(EEF1A2):c.759G>T (p.Val253=)
|
rs372796244
|
0.00001
|
|
NM_001958.5(EEF1A2):c.792G>C (p.Val264=)
|
rs777241260
|
0.00001
|
|
NM_001958.5(EEF1A2):c.842C>T (p.Ala281Val)
|
rs1166766963
|
0.00001
|
|
NM_001958.5(EEF1A2):c.873A>G (p.Ser291=)
|
rs772266559
|
0.00001
|
|
NM_001958.5(EEF1A2):c.876G>A (p.Val292=)
|
rs112732285
|
0.00001
|
|
NM_001958.5(EEF1A2):c.888C>T (p.His296=)
|
rs762804574
|
0.00001
|
|
NM_001958.5(EEF1A2):c.895C>T (p.Leu299=)
|
rs1309447992
|
0.00001
|
|
NM_001958.5(EEF1A2):c.900C>T (p.Ser300=)
|
rs374349515
|
0.00001
|
|
NM_001958.5(EEF1A2):c.915C>T (p.Gly305=)
|
rs377239518
|
0.00001
|
|
NM_001958.5(EEF1A2):c.942C>T (p.Asn314=)
|
rs758126231
|
0.00001
|
|
NM_001958.5(EEF1A2):c.948G>A (p.Ser316=)
|
rs750037526
|
0.00001
|
|
NM_001958.5(EEF1A2):c.954G>A (p.Lys318=)
|
rs1203123076
|
0.00001
|
|
NM_002641.4(PIGA):c.1308C>T (p.Phe436=)
|
rs778444082
|
0.00001
|
|
NM_002641.4(PIGA):c.1338T>A (p.Thr446=)
|
rs1437471008
|
0.00001
|
|
NM_002641.4(PIGA):c.1419A>G (p.Arg473=)
|
rs776651457
|
0.00001
|
|
NM_002641.4(PIGA):c.459C>T (p.Asp153=)
|
rs1922153058
|
0.00001
|
|
NM_002641.4(PIGA):c.48A>G (p.Thr16=)
|
rs772936689
|
0.00001
|
|
NM_002641.4(PIGA):c.848+17T>C
|
rs758986672
|
0.00001
|
|
NM_002641.4(PIGA):c.873A>G (p.Glu291=)
|
rs757121631
|
0.00001
|
|
NM_002641.4(PIGA):c.981+9C>T
|
rs377014685
|
0.00001
|
|
NM_003165.6(STXBP1):c.1722T>A (p.Thr574=)
|
rs377721017
|
0.00001
|
|
NM_004408.4(DNM1):c.1011C>T (p.Ala337=)
|
rs753714670
|
0.00001
|
|
NM_004408.4(DNM1):c.1053C>T (p.Ile351=)
|
rs1420306273
|
0.00001
|
|
NM_004408.4(DNM1):c.1098C>T (p.Phe366=)
|
rs532535557
|
0.00001
|
|
NM_004408.4(DNM1):c.1101C>T (p.His367=)
|
rs747430397
|
0.00001
|
|
NM_004408.4(DNM1):c.1116C>T (p.Phe372=)
|
rs367584321
|
0.00001
|
|
NM_004408.4(DNM1):c.1137T>C (p.Phe379=)
|
rs1835101654
|
0.00001
|
|
NM_004408.4(DNM1):c.1146G>A (p.Lys382=)
|
rs150617335
|
0.00001
|
|
NM_004408.4(DNM1):c.1155A>C (p.Arg385=)
|
rs140703430
|
0.00001
|
|
NM_004408.4(DNM1):c.1196+14C>T
|
rs372024347
|
0.00001
|
|
NM_004408.4(DNM1):c.1197-4T>C
|
rs1004698189
|
0.00001
|
|
NM_004408.4(DNM1):c.1197-6G>A
|
rs767877912
|
0.00001
|
|
NM_004408.4(DNM1):c.1262G>A (p.Arg421Gln)
|
rs769689269
|
0.00001
|
|
NM_004408.4(DNM1):c.1269G>A (p.Pro423=)
|
rs1436554330
|
0.00001
|
|
NM_004408.4(DNM1):c.1335+7C>T
|
rs201230726
|
0.00001
|
|
NM_004408.4(DNM1):c.1336-15C>T
|
rs764771425
|
0.00001
|
|
NM_004408.4(DNM1):c.1336-7T>C
|
rs550764968
|
0.00001
|
|
NM_004408.4(DNM1):c.1356A>G (p.Leu452=)
|
rs756954152
|
0.00001
|
|
NM_004408.4(DNM1):c.1358G>A (p.Arg453Gln)
|
rs750296552
|
0.00001
|
|
NM_004408.4(DNM1):c.1359G>A (p.Arg453=)
|
rs968662562
|
0.00001
|
|
NM_004408.4(DNM1):c.1409G>A (p.Arg470His)
|
rs763830358
|
0.00001
|
|
NM_004408.4(DNM1):c.1422+10G>A
|
rs375886288
|
0.00001
|
|
NM_004408.4(DNM1):c.1422+16C>T
|
rs766488967
|
0.00001
|
|
NM_004408.4(DNM1):c.1443C>T (p.Ile481=)
|
rs778321233
|
0.00001
|
|
NM_004408.4(DNM1):c.1494-10C>T
|
rs772807242
|
0.00001
|
|
NM_004408.4(DNM1):c.1494-15C>T
|
rs375232749
|
0.00001
|
|
NM_004408.4(DNM1):c.150T>C (p.Asn50=)
|
rs769600214
|
0.00001
|
|
NM_004408.4(DNM1):c.1524G>A (p.Lys508=)
|
rs1057523085
|
0.00001
|
|
NM_004408.4(DNM1):c.1671+11G>C
|
rs377034879
|
0.00001
|
|
NM_004408.4(DNM1):c.1743G>A (p.Ser581=)
|
rs776254391
|
0.00001
|
|
NM_004408.4(DNM1):c.1894-5C>G
|
rs1836928538
|
0.00001
|
|
NM_004408.4(DNM1):c.1932C>T (p.Ser644=)
|
rs750934085
|
0.00001
|
|
NM_004408.4(DNM1):c.1956C>T (p.Asp652=)
|
rs1564353077
|
0.00001
|
|
NM_004408.4(DNM1):c.199C>T (p.Arg67Cys)
|
rs199575353
|
0.00001
|
|
NM_004408.4(DNM1):c.2070T>A (p.Ile690=)
|
rs1019671226
|
0.00001
|
|
NM_004408.4(DNM1):c.2076+17A>G
|
rs1361466672
|
0.00001
|
|
NM_004408.4(DNM1):c.2113C>T (p.Leu705=)
|
rs752228958
|
0.00001
|
|
NM_004408.4(DNM1):c.2163G>A (p.Gln721=)
|
rs146678077
|
0.00001
|
|
NM_004408.4(DNM1):c.224A>G (p.Asn75Ser)
|
rs551214260
|
0.00001
|
|
NM_004408.4(DNM1):c.2310C>T (p.Ala770=)
|
rs1224582228
|
0.00001
|
|
NM_004408.4(DNM1):c.235+10C>T
|
rs372579464
|
0.00001
|
|
NM_004408.4(DNM1):c.2361C>T (p.Ala787=)
|
rs1041513039
|
0.00001
|
|
NM_004408.4(DNM1):c.2379C>T (p.Pro793=)
|
rs1215135225
|
0.00001
|
|
NM_004408.4(DNM1):c.2418G>T (p.Gly806=)
|
rs1413872976
|
0.00001
|
|
NM_004408.4(DNM1):c.2536C>T (p.Arg846Ter)
|
rs752575279
|
0.00001
|
|
NM_004408.4(DNM1):c.354G>A (p.Val118=)
|
rs1357577359
|
0.00001
|
|
NM_004408.4(DNM1):c.386-17C>T
|
rs766023182
|
0.00001
|
|
NM_004408.4(DNM1):c.3G>T (p.Met1Ile)
|
rs1401701364
|
0.00001
|
|
NM_004408.4(DNM1):c.44G>A (p.Arg15Gln)
|
rs763288862
|
0.00001
|
|
NM_004408.4(DNM1):c.528C>T (p.Pro176=)
|
rs146242842
|
0.00001
|
|
NM_004408.4(DNM1):c.603C>T (p.Ile201=)
|
rs1484030185
|
0.00001
|
|
NM_004408.4(DNM1):c.624C>T (p.Asp208=)
|
rs1395270062
|
0.00001
|
|
NM_004408.4(DNM1):c.633C>T (p.Asp211=)
|
rs1043525791
|
0.00001
|
|
NM_004408.4(DNM1):c.720G>A (p.Lys240=)
|
rs969868074
|
0.00001
|
|
NM_004408.4(DNM1):c.804G>A (p.Leu268=)
|
rs771201307
|
0.00001
|
|
NM_004408.4(DNM1):c.822G>A (p.Thr274=)
|
rs765410948
|
0.00001
|
|
NM_004408.4(DNM1):c.853C>T (p.Leu285=)
|
rs546034278
|
0.00001
|
|
NM_004408.4(DNM1):c.882G>A (p.Pro294=)
|
rs559572430
|
0.00001
|
|
NM_004408.4(DNM1):c.920T>C (p.Ile307Thr)
|
rs1052613908
|
0.00001
|
|
NM_004408.4(DNM1):c.924G>A (p.Glu308=)
|
rs1364961903
|
0.00001
|
|
NM_004408.4(DNM1):c.990G>T (p.Leu330=)
|
rs761236543
|
0.00001
|
|
NM_004408.4(DNM1):c.992+18C>T
|
rs1320762709
|
0.00001
|
|
NM_004408.4(DNM1):c.992+19C>T
|
rs1375346310
|
0.00001
|
|
NM_004974.4(KCNA2):c.1014G>C (p.Gly338=)
|
rs975996921
|
0.00001
|
|
NM_004974.4(KCNA2):c.1113C>T (p.Ser371=)
|
rs1022053211
|
0.00001
|
|
NM_004974.4(KCNA2):c.1281C>T (p.Ala427=)
|
rs769892809
|
0.00001
|
|
NM_004974.4(KCNA2):c.1385A>G (p.Gln462Arg)
|
rs767147366
|
0.00001
|
|
NM_004974.4(KCNA2):c.1433A>G (p.Lys478Arg)
|
rs1243868138
|
0.00001
|
|
NM_004974.4(KCNA2):c.144A>G (p.Leu48=)
|
rs369373711
|
0.00001
|
|
NM_004974.4(KCNA2):c.156C>T (p.Ala52=)
|
rs1444396267
|
0.00001
|
|
NM_004974.4(KCNA2):c.234C>T (p.Phe78=)
|
rs1384622440
|
0.00001
|
|
NM_004974.4(KCNA2):c.273C>T (p.Tyr91=)
|
rs750174299
|
0.00001
|
|
NM_004974.4(KCNA2):c.366G>A (p.Ala122=)
|
rs768027755
|
0.00001
|
|
NM_004974.4(KCNA2):c.465C>T (p.Tyr155=)
|
rs752785338
|
0.00001
|
|
NM_004974.4(KCNA2):c.552A>G (p.Thr184=)
|
rs1649493531
|
0.00001
|
|
NM_004974.4(KCNA2):c.65C>G (p.Thr22Ser)
|
rs1403692006
|
0.00001
|
|
NM_004974.4(KCNA2):c.745G>A (p.Gly249Ser)
|
rs746926057
|
0.00001
|
|
NM_004974.4(KCNA2):c.792C>A (p.Ile264=)
|
rs200005187
|
0.00001
|
|
NM_004974.4(KCNA2):c.885C>T (p.Val295=)
|
rs749777424
|
0.00001
|
|
NM_004974.4(KCNA2):c.909G>A (p.Arg303=)
|
rs759220639
|
0.00001
|
|
NM_004974.4(KCNA2):c.915C>T (p.Phe305=)
|
rs776140578
|
0.00001
|
|
NM_004974.4(KCNA2):c.9G>A (p.Val3=)
|
rs1217542162
|
0.00001
|
|
NM_004975.4(KCNB1):c.1023C>T (p.Gly341=)
|
rs763113494
|
0.00001
|
|
NM_004975.4(KCNB1):c.1047C>A (p.Val349=)
|
rs773495969
|
0.00001
|
|
NM_004975.4(KCNB1):c.1098C>T (p.Ala366=)
|
rs777002170
|
0.00001
|
|
NM_004975.4(KCNB1):c.1116C>G (p.Thr372=)
|
rs1347667767
|
0.00001
|
|
NM_004975.4(KCNB1):c.1128T>A (p.Thr376=)
|
rs375581882
|
0.00001
|
|
NM_004975.4(KCNB1):c.117G>A (p.Gly39=)
|
rs368376649
|
0.00001
|
|
NM_004975.4(KCNB1):c.1294C>T (p.Arg432Trp)
|
rs752596402
|
0.00001
|
|
NM_004975.4(KCNB1):c.1299A>G (p.Arg433=)
|
rs758700383
|
0.00001
|
|
NM_004975.4(KCNB1):c.1332C>T (p.Ser444=)
|
rs1178240064
|
0.00001
|
|
NM_004975.4(KCNB1):c.1410G>A (p.Glu470=)
|
rs1214032172
|
0.00001
|
|
NM_004975.4(KCNB1):c.1444C>A (p.His482Asn)
|
rs1171133807
|
0.00001
|
|
NM_004975.4(KCNB1):c.1506G>T (p.Lys502Asn)
|
rs761247010
|
0.00001
|
|
NM_004975.4(KCNB1):c.1723C>T (p.Arg575Cys)
|
rs947355756
|
0.00001
|
|
NM_004975.4(KCNB1):c.1862C>T (p.Ala621Val)
|
rs770069345
|
0.00001
|
|
NM_004975.4(KCNB1):c.1936G>A (p.Ala646Thr)
|
rs1447311755
|
0.00001
|
|
NM_004975.4(KCNB1):c.1950T>C (p.Ser650=)
|
rs767412426
|
0.00001
|
|
NM_004975.4(KCNB1):c.1962C>T (p.Ile654=)
|
rs1226209770
|
0.00001
|
|
NM_004975.4(KCNB1):c.1963G>A (p.Glu655Lys)
|
rs769948178
|
0.00001
|
|
NM_004975.4(KCNB1):c.1968C>T (p.Ser656=)
|
rs751330439
|
0.00001
|
|
NM_004975.4(KCNB1):c.2049A>C (p.Pro683=)
|
rs751308084
|
0.00001
|
|
NM_004975.4(KCNB1):c.204G>A (p.Ser68=)
|
rs1202077661
|
0.00001
|
|
NM_004975.4(KCNB1):c.2055C>A (p.Leu685=)
|
rs200849612
|
0.00001
|
|
NM_004975.4(KCNB1):c.2127G>A (p.Glu709=)
|
rs750280554
|
0.00001
|
|
NM_004975.4(KCNB1):c.2201C>A (p.Pro734His)
|
rs780940515
|
0.00001
|
|
NM_004975.4(KCNB1):c.2322C>T (p.Pro774=)
|
rs1471605520
|
0.00001
|
|
NM_004975.4(KCNB1):c.2345C>T (p.Thr782Ile)
|
rs751639377
|
0.00001
|
|
NM_004975.4(KCNB1):c.2352G>A (p.Pro784=)
|
rs763162952
|
0.00001
|
|
NM_004975.4(KCNB1):c.2425T>C (p.Leu809=)
|
rs745432739
|
0.00001
|
|
NM_004975.4(KCNB1):c.2457A>G (p.Ala819=)
|
rs755210446
|
0.00001
|
|
NM_004975.4(KCNB1):c.2524C>T (p.Arg842Cys)
|
rs758964585
|
0.00001
|
|
NM_004975.4(KCNB1):c.27C>A (p.Gly9=)
|
rs760648829
|
0.00001
|
|
NM_004975.4(KCNB1):c.300C>G (p.Arg100=)
|
rs760237871
|
0.00001
|
|
NM_004975.4(KCNB1):c.411C>T (p.Tyr137=)
|
rs747090668
|
0.00001
|
|
NM_004975.4(KCNB1):c.492T>C (p.Asp164=)
|
rs1392771017
|
0.00001
|
|
NM_004975.4(KCNB1):c.4C>T (p.Pro2Ser)
|
rs1054441474
|
0.00001
|
|
NM_004975.4(KCNB1):c.54C>T (p.Pro18=)
|
rs1403444378
|
0.00001
|
|
NM_004975.4(KCNB1):c.567+3G>A
|
rs752873604
|
0.00001
|
|
NM_004975.4(KCNB1):c.660C>T (p.Phe220=)
|
rs751017425
|
0.00001
|
|
NM_004975.4(KCNB1):c.702C>T (p.Ala234=)
|
rs753634361
|
0.00001
|
|
NM_004975.4(KCNB1):c.711C>T (p.Ile237=)
|
rs1020438851
|
0.00001
|
|
NM_004975.4(KCNB1):c.738G>A (p.Leu246=)
|
rs1336511502
|
0.00001
|
|
NM_004975.4(KCNB1):c.81G>A (p.Lys27=)
|
rs910155179
|
0.00001
|
|
NM_004975.4(KCNB1):c.84G>C (p.Ala28=)
|
rs748425302
|
0.00001
|
|
NM_004975.4(KCNB1):c.882C>T (p.Arg294=)
|
rs757868422
|
0.00001
|
|
NM_004975.4(KCNB1):c.900C>A (p.Arg300=)
|
rs1057523982
|
0.00001
|
|
NM_004975.4(KCNB1):c.903C>T (p.Ile301=)
|
rs1441724609
|
0.00001
|
|
NM_004975.4(KCNB1):c.954G>A (p.Gln318=)
|
rs368624252
|
0.00001
|
|
NM_004975.4(KCNB1):c.974G>A (p.Arg325Gln)
|
rs759765009
|
0.00001
|
|
NM_004975.4(KCNB1):c.984C>T (p.Tyr328=)
|
rs1179351306
|
0.00001
|
|
NM_004975.4(KCNB1):c.99C>A (p.Val33=)
|
rs932309335
|
0.00001
|
|
NM_005249.5(FOXG1):c.1005C>G (p.Pro335=)
|
rs368707795
|
0.00001
|
|
NM_005249.5(FOXG1):c.1058A>G (p.Asn353Ser)
|
rs749879411
|
0.00001
|
|
NM_005249.5(FOXG1):c.105G>A (p.Ala35=)
|
rs753859771
|
0.00001
|
|
NM_005249.5(FOXG1):c.1062C>T (p.His354=)
|
rs940370454
|
0.00001
|
|
NM_005249.5(FOXG1):c.1119G>A (p.Pro373=)
|
rs538358023
|
0.00001
|
|
NM_005249.5(FOXG1):c.1122C>T (p.Tyr374=)
|
rs777855975
|
0.00001
|
|
NM_005249.5(FOXG1):c.1212C>T (p.Pro404=)
|
rs1247633466
|
0.00001
|
|
NM_005249.5(FOXG1):c.1230C>T (p.Leu410=)
|
rs1318078788
|
0.00001
|
|
NM_005249.5(FOXG1):c.1263C>G (p.Val421=)
|
rs373079213
|
0.00001
|
|
NM_005249.5(FOXG1):c.1392G>C (p.Thr464=)
|
rs755772051
|
0.00001
|
|
NM_005249.5(FOXG1):c.150C>T (p.His50=)
|
rs532508999
|
0.00001
|
|
NM_005249.5(FOXG1):c.159C>T (p.His53=)
|
rs769410384
|
0.00001
|
|
NM_005249.5(FOXG1):c.186C>T (p.Ala62=)
|
rs1196387543
|
0.00001
|
|
NM_005249.5(FOXG1):c.240G>A (p.Pro80=)
|
rs1057521165
|
0.00001
|
|
NM_005249.5(FOXG1):c.281A>C (p.Asp94Ala)
|
rs1206977063
|
0.00001
|
|
NM_005249.5(FOXG1):c.318G>A (p.Pro106=)
|
rs1035987967
|
0.00001
|
|
NM_005249.5(FOXG1):c.323C>T (p.Pro108Leu)
|
rs1594383213
|
0.00001
|
|
NM_005249.5(FOXG1):c.441G>A (p.Lys147=)
|
rs1472196179
|
0.00001
|
|
NM_005249.5(FOXG1):c.501G>A (p.Glu167=)
|
rs773297334
|
0.00001
|
|
NM_005249.5(FOXG1):c.504G>A (p.Gly168=)
|
rs1057520499
|
0.00001
|
|
NM_005249.5(FOXG1):c.528C>T (p.Asn176=)
|
rs755296509
|
0.00001
|
|
NM_005249.5(FOXG1):c.555C>T (p.Ser185=)
|
rs778154529
|
0.00001
|
|
NM_005249.5(FOXG1):c.570C>A (p.Ile190=)
|
rs905973556
|
0.00001
|
|
NM_005249.5(FOXG1):c.57C>T (p.Ser19=)
|
rs372915038
|
0.00001
|
|
NM_005249.5(FOXG1):c.618C>T (p.Gly206=)
|
rs930327703
|
0.00001
|
|
NM_005249.5(FOXG1):c.735C>T (p.His245=)
|
rs1382215123
|
0.00001
|
|
NM_005249.5(FOXG1):c.819G>A (p.Leu273=)
|
rs1240848105
|
0.00001
|
|
NM_005249.5(FOXG1):c.837C>T (p.Thr279=)
|
rs570340475
|
0.00001
|
|
NM_005249.5(FOXG1):c.903C>T (p.Asp301=)
|
rs979367991
|
0.00001
|
|
NM_005249.5(FOXG1):c.90C>T (p.Asn30=)
|
rs1254598069
|
0.00001
|
|
NM_005249.5(FOXG1):c.963C>T (p.Ala321=)
|
rs781085552
|
0.00001
|
|
NM_005249.5(FOXG1):c.984C>T (p.Asn328=)
|
rs774246700
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.1017G>A (p.Val339=)
|
rs1287499685
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.1092G>A (p.Val364=)
|
rs970992832
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.1119C>T (p.Ala373=)
|
rs758258398
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.1153-11A>G
|
rs775830811
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.1153-7C>T
|
rs759901921
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.1209T>C (p.Gly403=)
|
rs777903252
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.1260+15A>G
|
rs587611382
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.1339+11dup
|
rs765136571
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.1340-11T>G
|
rs1306572448
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.1340-13C>T
|
rs1705101528
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.1461C>T (p.Asn487=)
|
rs1243314836
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.1479+12G>A
|
rs1705077708
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.1480-12C>T
|
rs746694181
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.1480-15T>A
|
rs1287814130
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.1480-4T>A
|
rs1444796440
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.1626+13C>G
|
rs754717802
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.1662G>C (p.Leu554=)
|
rs780781699
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.1671C>T (p.Tyr557=)
|
rs370651951
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.1686C>T (p.Pro562=)
|
rs757365634
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.171C>T (p.Pro57=)
|
rs1345972361
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.1774-7C>T
|
rs756092015
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.1824G>A (p.Thr608=)
|
rs774217388
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.1863G>A (p.Val621=)
|
rs768767245
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.1875C>T (p.Tyr625=)
|
rs1480824096
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.1908-9C>A
|
rs746054553
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.1962T>C (p.Ser654=)
|
rs774570192
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.1984+12G>A
|
rs1278037125
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.2022A>G (p.Glu674=)
|
rs777456090
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.206+13G>C
|
rs148980752
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.2103T>C (p.Phe701=)
|
rs914853499
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.2144-10C>A
|
rs779101863
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.2154C>T (p.Phe718=)
|
rs753131879
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.2166C>T (p.Asn722=)
|
rs760007972
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.21C>T (p.Thr7=)
|
rs946039787
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.2234+10A>G
|
rs1417666737
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.2250C>T (p.Ala750=)
|
rs1183901180
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.2256C>T (p.Phe752=)
|
rs921568575
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.2298-4C>T
|
rs199818023
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.2352C>T (p.Arg784=)
|
rs1202464827
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.2370C>T (p.His790=)
|
rs907103784
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.2401+16G>A
|
rs1415871993
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.2580G>A (p.Gln860=)
|
rs778641336
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.2710-9C>T
|
rs772210871
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.2775C>T (p.Tyr925=)
|
rs762405686
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.2862+12G>A
|
rs369721045
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.288+8C>T
|
rs368415357
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.288+9G>A
|
rs574453980
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.289-7C>T
|
rs768476453
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.2922G>A (p.Leu974=)
|
rs964599004
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.2971+10G>A
|
rs376297552
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.2972-4G>A
|
rs780845562
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.3027A>G (p.Lys1009=)
|
rs368065286
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.3060C>T (p.Ala1020=)
|
rs201154283
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.3078C>T (p.Ile1026=)
|
rs1354397541
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.3098+16C>T
|
rs773527612
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.3099G>A (p.Arg1033=)
|
rs769536562
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.3150C>T (p.Ala1050=)
|
rs1402064339
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.3187C>T (p.Leu1063=)
|
rs761547938
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.3204G>T (p.Thr1068=)
|
rs746041404
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.3208+10C>T
|
rs1163689982
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.3209-16C>A
|
rs1368208674
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.3209-4C>T
|
rs1060504834
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.3209-7T>C
|
rs374302648
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.3292-6C>T
|
rs1409979233
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.3292-8C>A
|
rs914125444
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.3292-9dup
|
rs762577808
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.3300C>T (p.Thr1100=)
|
rs762013139
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.3336G>C (p.Ser1112=)
|
rs777164486
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.3372C>T (p.Leu1124=)
|
rs961872296
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.3373C>T (p.Leu1125=)
|
rs1017724866
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.3378C>T (p.Gly1126=)
|
rs1348193937
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.3417C>T (p.Ala1139=)
|
rs1704116245
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.3423C>A (p.Arg1141=)
|
rs1301099289
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.390G>A (p.Lys130=)
|
rs531043018
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.405+17G>C
|
rs867840653
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.474C>T (p.Asp158=)
|
rs1008127042
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.477C>T (p.Ile159=)
|
rs182154151
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.501C>T (p.Asp167=)
|
rs778207640
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.510+8C>A
|
rs1262220342
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.652+10C>G
|
rs371427872
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.652+19C>T
|
rs749044638
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.653-13C>T
|
rs769204041
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.702G>A (p.Val234=)
|
rs752498975
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.784+10A>G
|
rs781141511
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.784+9C>T
|
rs371183857
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.972T>C (p.Asp324=)
|
rs1386682894
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.999C>T (p.Asn333=)
|
rs755624253
|
0.00001
|
|
NM_006279.5(ST3GAL3):c.1038+13G>A
|
rs1478256246
|
0.00001
|
|
NM_006279.5(ST3GAL3):c.1038+20G>T
|
rs201919243
|
0.00001
|
|
NM_006279.5(ST3GAL3):c.1038+8G>C
|
rs1439489205
|
0.00001
|
|
NM_006279.5(ST3GAL3):c.1038+9C>T
|
rs757031483
|
0.00001
|
|
NM_006279.5(ST3GAL3):c.1068A>G (p.Lys356=)
|
rs1015506821
|
0.00001
|
|
NM_006279.5(ST3GAL3):c.1098C>T (p.Arg366=)
|
rs373494209
|
0.00001
|
|
NM_006279.5(ST3GAL3):c.118+16C>T
|
rs1233749343
|
0.00001
|
|
NM_006279.5(ST3GAL3):c.166+10C>T
|
rs746574834
|
0.00001
|
|
NM_006279.5(ST3GAL3):c.166+7A>G
|
rs758114317
|
0.00001
|
|
NM_006279.5(ST3GAL3):c.209+14G>T
|
rs747853948
|
0.00001
|
|
NM_006279.5(ST3GAL3):c.228C>A (p.Thr76=)
|
rs1172211161
|
0.00001
|
|
NM_006279.5(ST3GAL3):c.234C>T (p.Tyr78=)
|
rs550614361
|
0.00001
|
|
NM_006279.5(ST3GAL3):c.273T>G (p.Ala91=)
|
rs745979516
|
0.00001
|
|
NM_006279.5(ST3GAL3):c.288G>A (p.Thr96=)
|
rs763879713
|
0.00001
|
|
NM_006279.5(ST3GAL3):c.303-9A>G
|
rs762536905
|
0.00001
|
|
NM_006279.5(ST3GAL3):c.321C>A (p.Pro107=)
|
rs773814511
|
0.00001
|
|
NM_006279.5(ST3GAL3):c.375G>A (p.Pro125=)
|
rs747912225
|
0.00001
|
|
NM_006279.5(ST3GAL3):c.397+20C>G
|
rs1180406652
|
0.00001
|
|
NM_006279.5(ST3GAL3):c.398-6C>T
|
rs1432993761
|
0.00001
|
|
NM_006279.5(ST3GAL3):c.398-9T>C
|
rs1168770898
|
0.00001
|
|
NM_006279.5(ST3GAL3):c.486C>T (p.Ile162=)
|
rs764149445
|
0.00001
|
|
NM_006279.5(ST3GAL3):c.609G>A (p.Thr203=)
|
rs2077939158
|
0.00001
|
|
NM_006279.5(ST3GAL3):c.744+12T>C
|
rs200985052
|
0.00001
|
|
NM_006279.5(ST3GAL3):c.745-19G>A
|
rs756374156
|
0.00001
|
|
NM_006279.5(ST3GAL3):c.87G>A (p.Lys29=)
|
rs138684243
|
0.00001
|
|
NM_006279.5(ST3GAL3):c.892-10C>T
|
rs545265264
|
0.00001
|
|
NM_006279.5(ST3GAL3):c.931C>T (p.Leu311=)
|
rs375217506
|
0.00001
|
|
NM_006279.5(ST3GAL3):c.957C>T (p.Val319=)
|
rs200118060
|
0.00001
|
|
NM_006279.5(ST3GAL3):c.997C>T (p.Leu333=)
|
rs2082913376
|
0.00001
|
|
NM_007254.4(PNKP):c.1029+16G>A
|
rs982882766
|
0.00001
|
|
NM_007254.4(PNKP):c.1050G>A (p.Gly350=)
|
rs1194208521
|
0.00001
|
|
NM_007254.4(PNKP):c.1056C>G (p.Leu352=)
|
rs767011520
|
0.00001
|
|
NM_007254.4(PNKP):c.1074G>A (p.Arg358=)
|
rs771883677
|
0.00001
|
|
NM_007254.4(PNKP):c.1107C>T (p.Val369=)
|
rs1233198739
|
0.00001
|
|
NM_007254.4(PNKP):c.1125G>A (p.Gly375=)
|
rs727504101
|
0.00001
|
|
NM_007254.4(PNKP):c.1126+10C>T
|
rs1459307960
|
0.00001
|
|
NM_007254.4(PNKP):c.1127-6A>C
|
rs936791908
|
0.00001
|
|
NM_007254.4(PNKP):c.1140C>T (p.Thr380=)
|
rs780500233
|
0.00001
|
|
NM_007254.4(PNKP):c.1188+19C>T
|
rs1484018266
|
0.00001
|
|
NM_007254.4(PNKP):c.1188+20G>A
|
rs779991747
|
0.00001
|
|
NM_007254.4(PNKP):c.1189-10G>C
|
rs1458942967
|
0.00001
|
|
NM_007254.4(PNKP):c.1189-15C>G
|
rs1385478589
|
0.00001
|
|
NM_007254.4(PNKP):c.1200C>T (p.Gly400=)
|
rs1188834887
|
0.00001
|
|
NM_007254.4(PNKP):c.1212C>T (p.Arg404=)
|
rs775042023
|
0.00001
|
|
NM_007254.4(PNKP):c.1233A>G (p.Thr411=)
|
rs1057522305
|
0.00001
|
|
NM_007254.4(PNKP):c.1239G>A (p.Leu413=)
|
rs1488660891
|
0.00001
|
|
NM_007254.4(PNKP):c.1287G>A (p.Ala429=)
|
rs1281900821
|
0.00001
|
|
NM_007254.4(PNKP):c.1287G>C (p.Ala429=)
|
rs1281900821
|
0.00001
|
|
NM_007254.4(PNKP):c.1293C>T (p.Arg431=)
|
rs143390809
|
0.00001
|
|
NM_007254.4(PNKP):c.1299-11T>C
|
rs776421692
|
0.00001
|
|
NM_007254.4(PNKP):c.1299-5C>T
|
rs1057522419
|
0.00001
|
|
NM_007254.4(PNKP):c.1299-9C>T
|
rs1055654261
|
0.00001
|
|
NM_007254.4(PNKP):c.1323G>A (p.Ala441=)
|
rs778138676
|
0.00001
|
|
NM_007254.4(PNKP):c.1383C>T (p.Asn461=)
|
rs745974624
|
0.00001
|
|
NM_007254.4(PNKP):c.1386+46C>T
|
rs767727372
|
0.00001
|
|
NM_007254.4(PNKP):c.1387-12T>C
|
rs1446884587
|
0.00001
|
|
NM_007254.4(PNKP):c.1387-38G>A
|
rs1568658400
|
0.00001
|
|
NM_007254.4(PNKP):c.1387-47dup
|
rs747142211
|
0.00001
|
|
NM_007254.4(PNKP):c.1387-4A>C
|
rs774527024
|
0.00001
|
|
NM_007254.4(PNKP):c.1387-8C>T
|
rs541604147
|
0.00001
|
|
NM_007254.4(PNKP):c.1416C>T (p.Ile472=)
|
rs1406190021
|
0.00001
|
|
NM_007254.4(PNKP):c.1448+16G>A
|
rs1468792596
|
0.00001
|
|
NM_007254.4(PNKP):c.1448+7T>C
|
rs775646444
|
0.00001
|
|
NM_007254.4(PNKP):c.152-18C>G
|
rs779728115
|
0.00001
|
|
NM_007254.4(PNKP):c.1551G>A (p.Gln517=)
|
rs771913446
|
0.00001
|
|
NM_007254.4(PNKP):c.199-13T>C
|
rs557741670
|
0.00001
|
|
NM_007254.4(PNKP):c.199-18C>G
|
rs769513325
|
0.00001
|
|
NM_007254.4(PNKP):c.24C>T (p.Gly8=)
|
rs1057522863
|
0.00001
|
|
NM_007254.4(PNKP):c.267G>T (p.Val89=)
|
rs531640505
|
0.00001
|
|
NM_007254.4(PNKP):c.422G>A (p.Arg141Gln)
|
rs570013652
|
0.00001
|
|
NM_007254.4(PNKP):c.499-7A>C
|
rs909512959
|
0.00001
|
|
NM_007254.4(PNKP):c.579-5C>T
|
rs767753048
|
0.00001
|
|
NM_007254.4(PNKP):c.585G>A (p.Leu195=)
|
rs770100322
|
0.00001
|
|
NM_007254.4(PNKP):c.60C>T (p.Pro20=)
|
rs1037495706
|
0.00001
|
|
NM_007254.4(PNKP):c.636+12C>T
|
rs768950578
|
0.00001
|
|
NM_007254.4(PNKP):c.636+19C>G
|
rs777095183
|
0.00001
|
|
NM_007254.4(PNKP):c.637-6C>T
|
rs1421820816
|
0.00001
|
|
NM_007254.4(PNKP):c.657G>A (p.Gln219=)
|
rs1332607261
|
0.00001
|
|
NM_007254.4(PNKP):c.723G>A (p.Glu241=)
|
rs778970176
|
0.00001
|
|
NM_007254.4(PNKP):c.741C>T (p.Phe247=)
|
rs767980504
|
0.00001
|
|
NM_007254.4(PNKP):c.744+8T>C
|
rs587784370
|
0.00001
|
|
NM_007254.4(PNKP):c.759G>A (p.Thr253=)
|
rs1057522106
|
0.00001
|
|
NM_007254.4(PNKP):c.762C>T (p.His254=)
|
rs794727920
|
0.00001
|
|
NM_007254.4(PNKP):c.780G>A (p.Lys260=)
|
rs1019739332
|
0.00001
|
|
NM_007254.4(PNKP):c.792C>T (p.Gly264=)
|
rs1188638021
|
0.00001
|
|
NM_007254.4(PNKP):c.817-5C>T
|
rs398124250
|
0.00001
|
|
NM_007254.4(PNKP):c.865+20T>C
|
rs921950177
|
0.00001
|
|
NM_007254.4(PNKP):c.873C>T (p.Ala291=)
|
rs749641401
|
0.00001
|
|
NM_007254.4(PNKP):c.936+10C>T
|
rs750891370
|
0.00001
|
|
NM_007254.4(PNKP):c.936+8C>T
|
rs763573850
|
0.00001
|
|
NM_007254.4(PNKP):c.942C>T (p.Ala314=)
|
rs1268054245
|
0.00001
|
|
NM_007254.4(PNKP):c.960C>T (p.Pro320=)
|
rs2074781901
|
0.00001
|
|
NM_007254.4(PNKP):c.969G>A (p.Thr323=)
|
rs1257495491
|
0.00001
|
|
NM_007254.4(PNKP):c.987C>T (p.Leu329=)
|
rs150644303
|
0.00001
|
|
NM_014334.4(FRRS1L):c.-100G>A
|
rs913883506
|
0.00001
|
|
NM_014334.4(FRRS1L):c.-102C>A
|
rs757388680
|
0.00001
|
|
NM_014334.4(FRRS1L):c.-109G>T
|
rs1256823075
|
0.00001
|
|
NM_014334.4(FRRS1L):c.-12C>T
|
rs1400351195
|
0.00001
|
|
NM_014334.4(FRRS1L):c.-67C>G
|
rs1342022093
|
0.00001
|
|
NM_014334.4(FRRS1L):c.129G>C (p.Arg43=)
|
rs768363888
|
0.00001
|
|
NM_014334.4(FRRS1L):c.239-16T>C
|
rs762849451
|
0.00001
|
|
NM_014334.4(FRRS1L):c.323+8G>A
|
rs753796727
|
0.00001
|
|
NM_014334.4(FRRS1L):c.324-11A>T
|
rs748296431
|
0.00001
|
|
NM_014334.4(FRRS1L):c.324-6T>C
|
rs755165973
|
0.00001
|
|
NM_014334.4(FRRS1L):c.327T>C (p.Tyr109=)
|
rs898527400
|
0.00001
|
|
NM_014334.4(FRRS1L):c.336A>G (p.Pro112=)
|
rs753741493
|
0.00001
|
|
NM_014334.4(FRRS1L):c.414A>C (p.Ala138=)
|
rs747217887
|
0.00001
|
|
NM_014334.4(FRRS1L):c.432A>T (p.Val144=)
|
rs368393399
|
0.00001
|
|
NM_014334.4(FRRS1L):c.486C>T (p.Cys162=)
|
rs779716535
|
0.00001
|
|
NM_014334.4(FRRS1L):c.531T>C (p.Asn177=)
|
rs769545466
|
0.00001
|
|
NM_014334.4(FRRS1L):c.66G>A (p.Gly22=)
|
rs1397352814
|
0.00001
|
|
NM_014334.4(FRRS1L):c.710-8T>C
|
rs775558878
|
0.00001
|
|
NM_014334.4(FRRS1L):c.72C>T (p.Ala24=)
|
rs1588106644
|
0.00001
|
|
NM_014334.4(FRRS1L):c.741G>A (p.Pro247=)
|
rs781543300
|
0.00001
|
|
NM_014334.4(FRRS1L):c.744G>A (p.Pro248=)
|
rs752083667
|
0.00001
|
|
NM_014334.4(FRRS1L):c.768T>C (p.Ile256=)
|
rs1174210041
|
0.00001
|
|
NM_014334.4(FRRS1L):c.873A>T (p.Gly291=)
|
rs377132738
|
0.00001
|
|
NM_015192.4(PLCB1):c.1010-4A>G
|
rs1208664909
|
0.00001
|
|
NM_015192.4(PLCB1):c.1014C>A (p.Gly338=)
|
rs760110304
|
0.00001
|
|
NM_015192.4(PLCB1):c.1059C>T (p.Leu353=)
|
rs765550076
|
0.00001
|
|
NM_015192.4(PLCB1):c.1128C>T (p.Ile376=)
|
rs1450261335
|
0.00001
|
|
NM_015192.4(PLCB1):c.1167+11T>C
|
rs756079683
|
0.00001
|
|
NM_015192.4(PLCB1):c.1168-16G>T
|
rs369578844
|
0.00001
|
|
NM_015192.4(PLCB1):c.117T>C (p.Thr39=)
|
rs371499786
|
0.00001
|
|
NM_015192.4(PLCB1):c.129G>A (p.Leu43=)
|
rs374402412
|
0.00001
|
|
NM_015192.4(PLCB1):c.12T>C (p.Ala4=)
|
rs757558506
|
0.00001
|
|
NM_015192.4(PLCB1):c.1321C>T (p.Leu441=)
|
rs1332948192
|
0.00001
|
|
NM_015192.4(PLCB1):c.1446C>T (p.Leu482=)
|
rs372481162
|
0.00001
|
|
NM_015192.4(PLCB1):c.1513+12G>T
|
rs1466798040
|
0.00001
|
|
NM_015192.4(PLCB1):c.1513+7G>A
|
rs748079484
|
0.00001
|
|
NM_015192.4(PLCB1):c.1582-10C>T
|
rs770810162
|
0.00001
|
|
NM_015192.4(PLCB1):c.1584G>A (p.Gly528=)
|
rs957436764
|
0.00001
|
|
NM_015192.4(PLCB1):c.1590T>C (p.Ala530=)
|
rs751676929
|
0.00001
|
|
NM_015192.4(PLCB1):c.1668A>G (p.Glu556=)
|
rs886056963
|
0.00001
|
|
NM_015192.4(PLCB1):c.1698A>G (p.Glu566=)
|
rs774696079
|
0.00001
|
|
NM_015192.4(PLCB1):c.1710C>T (p.Phe570=)
|
rs772233698
|
0.00001
|
|
NM_015192.4(PLCB1):c.1752G>C (p.Val584=)
|
rs370361540
|
0.00001
|
|
NM_015192.4(PLCB1):c.1782T>C (p.Leu594=)
|
rs878855005
|
0.00001
|
|
NM_015192.4(PLCB1):c.1839C>T (p.Leu613=)
|
rs756005851
|
0.00001
|
|
NM_015192.4(PLCB1):c.186G>A (p.Glu62=)
|
rs770172716
|
0.00001
|
|
NM_015192.4(PLCB1):c.1888+10T>C
|
rs1429911952
|
0.00001
|
|
NM_015192.4(PLCB1):c.1889-4T>G
|
rs1474211054
|
0.00001
|
|
NM_015192.4(PLCB1):c.1929C>T (p.Asn643=)
|
rs757435266
|
0.00001
|
|
NM_015192.4(PLCB1):c.2007C>T (p.Ile669=)
|
rs373550621
|
0.00001
|
|
NM_015192.4(PLCB1):c.2067T>C (p.Ser689=)
|
rs1016422043
|
0.00001
|
|
NM_015192.4(PLCB1):c.2235G>A (p.Leu745=)
|
rs587780416
|
0.00001
|
|
NM_015192.4(PLCB1):c.2244A>C (p.Ala748=)
|
rs1208701865
|
0.00001
|
|
NM_015192.4(PLCB1):c.2309-10C>T
|
rs1336127825
|
0.00001
|
|
NM_015192.4(PLCB1):c.2329A>C (p.Arg777=)
|
rs1467021390
|
0.00001
|
|
NM_015192.4(PLCB1):c.2421C>T (p.Ile807=)
|
rs768060162
|
0.00001
|
|
NM_015192.4(PLCB1):c.2657-15T>C
|
rs779343687
|
0.00001
|
|
NM_015192.4(PLCB1):c.2691T>C (p.Leu897=)
|
rs1360354865
|
0.00001
|
|
NM_015192.4(PLCB1):c.2711-17A>C
|
rs769765757
|
0.00001
|
|
NM_015192.4(PLCB1):c.2736A>G (p.Glu912=)
|
rs760894841
|
0.00001
|
|
NM_015192.4(PLCB1):c.2769A>G (p.Gln923=)
|
rs1207055034
|
0.00001
|
|
NM_015192.4(PLCB1):c.2784A>G (p.Lys928=)
|
rs1185092500
|
0.00001
|
|
NM_015192.4(PLCB1):c.2886G>A (p.Arg962=)
|
rs1488153462
|
0.00001
|
|
NM_015192.4(PLCB1):c.2892C>T (p.Ala964=)
|
rs546783466
|
0.00001
|
|
NM_015192.4(PLCB1):c.2930+17T>G
|
rs754899592
|
0.00001
|
|
NM_015192.4(PLCB1):c.3111+7C>T
|
rs749548164
|
0.00001
|
|
NM_015192.4(PLCB1):c.3300G>T (p.Arg1100=)
|
rs370182417
|
0.00001
|
|
NM_015192.4(PLCB1):c.3339A>G (p.Leu1113=)
|
rs757919673
|
0.00001
|
|
NM_015192.4(PLCB1):c.3348G>A (p.Ala1116=)
|
rs587780417
|
0.00001
|
|
NM_015192.4(PLCB1):c.3366A>G (p.Glu1122=)
|
rs762035591
|
0.00001
|
|
NM_015192.4(PLCB1):c.3372C>T (p.Leu1124=)
|
rs530567846
|
0.00001
|
|
NM_015192.4(PLCB1):c.3423+7G>A
|
rs371050518
|
0.00001
|
|
NM_015192.4(PLCB1):c.3424-20C>T
|
rs1167790783
|
0.00001
|
|
NM_015192.4(PLCB1):c.3424-9G>A
|
rs1045955231
|
0.00001
|
|
NM_015192.4(PLCB1):c.3432G>T (p.Val1144=)
|
rs756201478
|
0.00001
|
|
NM_015192.4(PLCB1):c.3447A>G (p.Glu1149=)
|
rs142432676
|
0.00001
|
|
NM_015192.4(PLCB1):c.3492C>T (p.Phe1164=)
|
rs1184688670
|
0.00001
|
|
NM_015192.4(PLCB1):c.3549T>C (p.Pro1183=)
|
rs780459225
|
0.00001
|
|
NM_015192.4(PLCB1):c.354T>C (p.Asn118=)
|
rs766604971
|
0.00001
|
|
NM_015192.4(PLCB1):c.357C>T (p.Leu119=)
|
rs754371354
|
0.00001
|
|
NM_015192.4(PLCB1):c.385-9A>G
|
rs762641125
|
0.00001
|
|
NM_015192.4(PLCB1):c.387A>G (p.Glu129=)
|
rs764014646
|
0.00001
|
|
NM_015192.4(PLCB1):c.405C>T (p.Phe135=)
|
rs1170601854
|
0.00001
|
|
NM_015192.4(PLCB1):c.42G>A (p.Lys14=)
|
rs775655063
|
0.00001
|
|
NM_015192.4(PLCB1):c.432A>G (p.Gln144=)
|
rs142874818
|
0.00001
|
|
NM_015192.4(PLCB1):c.456G>A (p.Leu152=)
|
rs200598979
|
0.00001
|
|
NM_015192.4(PLCB1):c.519-14T>C
|
rs896154135
|
0.00001
|
|
NM_015192.4(PLCB1):c.528C>G (p.Arg176=)
|
rs1989250535
|
0.00001
|
|
NM_015192.4(PLCB1):c.564T>A (p.Ala188=)
|
rs775374724
|
0.00001
|
|
NM_015192.4(PLCB1):c.570G>A (p.Glu190=)
|
rs966250838
|
0.00001
|
|
NM_015192.4(PLCB1):c.595-17G>A
|
rs776894788
|
0.00001
|
|
NM_015192.4(PLCB1):c.723C>T (p.Thr241=)
|
rs781550034
|
0.00001
|
|
NM_015192.4(PLCB1):c.862+16C>T
|
rs751879371
|
0.00001
|
|
NM_015192.4(PLCB1):c.862+7dup
|
rs1374117351
|
0.00001
|
|
NM_015192.4(PLCB1):c.867A>G (p.Gln289=)
|
rs746884664
|
0.00001
|
|
NM_015192.4(PLCB1):c.942G>A (p.Leu314=)
|
rs182563538
|
0.00001
|
|
NM_015192.4(PLCB1):c.963C>A (p.Pro321=)
|
rs779382331
|
0.00001
|
|
NM_015192.4(PLCB1):c.99+12G>C
|
rs763276609
|
0.00001
|
|
NM_015509.4(NECAP1):c.13T>C (p.Leu5=)
|
rs780897889
|
0.00001
|
|
NM_015509.4(NECAP1):c.197-12C>T
|
rs753873119
|
0.00001
|
|
NM_015509.4(NECAP1):c.301+14G>A
|
rs758362815
|
0.00001
|
|
NM_015509.4(NECAP1):c.302-13A>G
|
rs776765650
|
0.00001
|
|
NM_015509.4(NECAP1):c.39G>T (p.Val13=)
|
rs1947446999
|
0.00001
|
|
NM_015509.4(NECAP1):c.516T>C (p.Gly172=)
|
rs748624358
|
0.00001
|
|
NM_015509.4(NECAP1):c.546G>A (p.Gly182=)
|
rs1327798217
|
0.00001
|
|
NM_015509.4(NECAP1):c.648G>A (p.Pro216=)
|
rs370869772
|
0.00001
|
|
NM_015509.4(NECAP1):c.95+11C>T
|
rs1390115604
|
0.00001
|
|
NM_015509.4(NECAP1):c.95+16C>T
|
rs372167429
|
0.00001
|
|
NM_016373.4(WWOX):c.1057-18T>G
|
rs780546419
|
0.00001
|
|
NM_016373.4(WWOX):c.107+12G>T
|
rs753626622
|
0.00001
|
|
NM_016373.4(WWOX):c.107+16T>G
|
rs1313734754
|
0.00001
|
|
NM_016373.4(WWOX):c.1107G>A (p.Glu369=)
|
rs369673368
|
0.00001
|
|
NM_016373.4(WWOX):c.1143C>T (p.Arg381=)
|
rs1427739406
|
0.00001
|
|
NM_016373.4(WWOX):c.1158A>G (p.Pro386=)
|
rs755586346
|
0.00001
|
|
NM_016373.4(WWOX):c.117G>A (p.Glu39=)
|
rs368245025
|
0.00001
|
|
NM_016373.4(WWOX):c.1227T>C (p.Leu409=)
|
rs1370851633
|
0.00001
|
|
NM_016373.4(WWOX):c.172+7A>G
|
rs1307853735
|
0.00001
|
|
NM_016373.4(WWOX):c.173-9G>A
|
rs768579025
|
0.00001
|
|
NM_016373.4(WWOX):c.216A>G (p.Gln72=)
|
rs754962104
|
0.00001
|
|
NM_016373.4(WWOX):c.222T>C (p.Phe74=)
|
rs748079925
|
0.00001
|
|
NM_016373.4(WWOX):c.228T>C (p.Val76=)
|
rs370579498
|
0.00001
|
|
NM_016373.4(WWOX):c.231-20C>G
|
rs768620458
|
0.00001
|
|
NM_016373.4(WWOX):c.231-6G>T
|
rs987981847
|
0.00001
|
|
NM_016373.4(WWOX):c.24G>A (p.Gly8=)
|
rs960284644
|
0.00001
|
|
NM_016373.4(WWOX):c.273G>A (p.Ala91=)
|
rs778288592
|
0.00001
|
|
NM_016373.4(WWOX):c.303A>G (p.Pro101=)
|
rs761783544
|
0.00001
|
|
NM_016373.4(WWOX):c.372C>A (p.Gly124=)
|
rs1427515892
|
0.00001
|
|
NM_016373.4(WWOX):c.410-19A>G
|
rs201778955
|
0.00001
|
|
NM_016373.4(WWOX):c.567C>T (p.Ser189=)
|
rs201593515
|
0.00001
|
|
NM_016373.4(WWOX):c.579T>C (p.Phe193=)
|
rs554077107
|
0.00001
|
|
NM_016373.4(WWOX):c.605+10C>G
|
rs201186695
|
0.00001
|
|
NM_016373.4(WWOX):c.605+11C>T
|
rs1271857180
|
0.00001
|
|
NM_016373.4(WWOX):c.605+19G>A
|
rs199843934
|
0.00001
|
|
NM_016373.4(WWOX):c.678G>A (p.Glu226=)
|
rs750905852
|
0.00001
|
|
NM_016373.4(WWOX):c.78C>T (p.Thr26=)
|
rs761493229
|
0.00001
|
|
NM_016373.4(WWOX):c.791+11A>G
|
rs779754174
|
0.00001
|
|
NM_016373.4(WWOX):c.843T>A (p.Ser281=)
|
rs367855242
|
0.00001
|
|
NM_016373.4(WWOX):c.866C>T (p.Ala289Val)
|
rs753894507
|
0.00001
|
|
NM_016373.4(WWOX):c.906C>T (p.Leu302=)
|
rs377404672
|
0.00001
|
|
NM_016373.4(WWOX):c.945G>A (p.Gly315=)
|
rs1232491002
|
0.00001
|
|
NM_016373.4(WWOX):c.948C>G (p.Val316=)
|
rs201986739
|
0.00001
|
|
NM_016373.4(WWOX):c.954G>A (p.Ser318=)
|
rs971458936
|
0.00001
|
|
NM_016373.4(WWOX):c.999C>T (p.Arg333=)
|
rs774462234
|
0.00001
|
|
NM_016373.4(WWOX):c.99C>T (p.Tyr33=)
|
rs760762887
|
0.00001
|
|
NM_016373.4(WWOX):c.9G>C (p.Ala3=)
|
rs778036247
|
0.00001
|
|
NM_020708.5(SLC12A5):c.1023A>G (p.Thr341=)
|
rs1224748748
|
0.00001
|
|
NM_020708.5(SLC12A5):c.1101G>T (p.Val367=)
|
rs745635839
|
0.00001
|
|
NM_020708.5(SLC12A5):c.1203C>T (p.Thr401=)
|
rs1357953426
|
0.00001
|
|
NM_020708.5(SLC12A5):c.1308C>T (p.Ile436=)
|
rs1366527252
|
0.00001
|
|
NM_020708.5(SLC12A5):c.1380C>T (p.Val460=)
|
rs2084571064
|
0.00001
|
|
NM_020708.5(SLC12A5):c.1422C>T (p.Leu474=)
|
rs371872977
|
0.00001
|
|
NM_020708.5(SLC12A5):c.147+18T>G
|
rs745748778
|
0.00001
|
|
NM_020708.5(SLC12A5):c.1485C>T (p.Thr495=)
|
rs748652503
|
0.00001
|
|
NM_020708.5(SLC12A5):c.1590C>T (p.Ala530=)
|
rs2084590822
|
0.00001
|
|
NM_020708.5(SLC12A5):c.1662C>T (p.Leu554=)
|
rs570128689
|
0.00001
|
|
NM_020708.5(SLC12A5):c.1680C>T (p.Ile560=)
|
rs752463505
|
0.00001
|
|
NM_020708.5(SLC12A5):c.1725C>T (p.Ala575=)
|
rs780184051
|
0.00001
|
|
NM_020708.5(SLC12A5):c.1740G>A (p.Thr580=)
|
rs200135706
|
0.00001
|
|
NM_020708.5(SLC12A5):c.1774C>A (p.Arg592=)
|
rs774420123
|
0.00001
|
|
NM_020708.5(SLC12A5):c.186C>T (p.Leu62=)
|
rs746245950
|
0.00001
|
|
NM_020708.5(SLC12A5):c.1893C>T (p.Tyr631=)
|
rs758192433
|
0.00001
|
|
NM_020708.5(SLC12A5):c.1899G>A (p.Glu633=)
|
rs984368300
|
0.00001
|
|
NM_020708.5(SLC12A5):c.18G>A (p.Thr6=)
|
rs1193496783
|
0.00001
|
|
NM_020708.5(SLC12A5):c.1920G>A (p.Glu640=)
|
rs777473085
|
0.00001
|
|
NM_020708.5(SLC12A5):c.2012+19G>A
|
rs2084613688
|
0.00001
|
|
NM_020708.5(SLC12A5):c.2012+20G>C
|
rs756884412
|
0.00001
|
|
NM_020708.5(SLC12A5):c.2013-7T>C
|
rs1404275032
|
0.00001
|
|
NM_020708.5(SLC12A5):c.2085C>T (p.Thr695=)
|
rs747468488
|
0.00001
|
|
NM_020708.5(SLC12A5):c.2088C>T (p.Ser696=)
|
rs1383866766
|
0.00001
|
|
NM_020708.5(SLC12A5):c.2163G>A (p.Gln721=)
|
rs1423882969
|
0.00001
|
|
NM_020708.5(SLC12A5):c.2171G>A (p.Arg724Gln)
|
rs763907201
|
0.00001
|
|
NM_020708.5(SLC12A5):c.2181+18T>C
|
rs764842773
|
0.00001
|
|
NM_020708.5(SLC12A5):c.2181+9A>G
|
rs753882744
|
0.00001
|
|
NM_020708.5(SLC12A5):c.2377+19G>T
|
rs759266825
|
0.00001
|
|
NM_020708.5(SLC12A5):c.2378-20C>G
|
rs377253900
|
0.00001
|
|
NM_020708.5(SLC12A5):c.2547+16G>C
|
rs755275909
|
0.00001
|
|
NM_020708.5(SLC12A5):c.2658G>A (p.Ala886=)
|
rs546939045
|
0.00001
|
|
NM_020708.5(SLC12A5):c.2679+20C>T
|
rs767719655
|
0.00001
|
|
NM_020708.5(SLC12A5):c.2679+8C>T
|
rs771536557
|
0.00001
|
|
NM_020708.5(SLC12A5):c.2688C>T (p.Ser896=)
|
rs561222589
|
0.00001
|
|
NM_020708.5(SLC12A5):c.2718G>A (p.Thr906=)
|
rs376060282
|
0.00001
|
|
NM_020708.5(SLC12A5):c.2829A>G (p.Arg943=)
|
rs374273794
|
0.00001
|
|
NM_020708.5(SLC12A5):c.2844C>T (p.Asn948=)
|
rs1273740578
|
0.00001
|
|
NM_020708.5(SLC12A5):c.2877G>A (p.Thr959=)
|
rs771915911
|
0.00001
|
|
NM_020708.5(SLC12A5):c.2880T>C (p.Ala960=)
|
rs760701805
|
0.00001
|
|
NM_020708.5(SLC12A5):c.2910+7A>C
|
rs370981994
|
0.00001
|
|
NM_020708.5(SLC12A5):c.2911-18G>A
|
rs371561644
|
0.00001
|
|
NM_020708.5(SLC12A5):c.306C>T (p.Gly102=)
|
rs907254238
|
0.00001
|
|
NM_020708.5(SLC12A5):c.3120G>A (p.Glu1040=)
|
rs761882854
|
0.00001
|
|
NM_020708.5(SLC12A5):c.3156G>C (p.Thr1052=)
|
rs200558731
|
0.00001
|
|
NM_020708.5(SLC12A5):c.315G>A (p.Leu105=)
|
rs774143848
|
0.00001
|
|
NM_020708.5(SLC12A5):c.3252T>C (p.Asp1084=)
|
rs751114001
|
0.00001
|
|
NM_020708.5(SLC12A5):c.3259+20G>T
|
rs767118034
|
0.00001
|
|
NM_020708.5(SLC12A5):c.3261C>T (p.Tyr1087=)
|
rs2084707675
|
0.00001
|
|
NM_020708.5(SLC12A5):c.348C>A (p.Leu116=)
|
rs1358161315
|
0.00001
|
|
NM_020708.5(SLC12A5):c.427-16A>T
|
rs781525443
|
0.00001
|
|
NM_020708.5(SLC12A5):c.465G>A (p.Thr155=)
|
rs376632862
|
0.00001
|
|
NM_020708.5(SLC12A5):c.474T>A (p.Val158=)
|
rs750160565
|
0.00001
|
|
NM_020708.5(SLC12A5):c.52+13C>T
|
rs1212644121
|
0.00001
|
|
NM_020708.5(SLC12A5):c.53-16C>T
|
rs1195604412
|
0.00001
|
|
NM_020708.5(SLC12A5):c.555C>T (p.Tyr185=)
|
rs1472803142
|
0.00001
|
|
NM_020708.5(SLC12A5):c.591G>C (p.Leu197=)
|
rs558027479
|
0.00001
|
|
NM_020708.5(SLC12A5):c.594C>T (p.Gly198=)
|
rs1438984495
|
0.00001
|
|
NM_020708.5(SLC12A5):c.711G>A (p.Val237=)
|
rs750550342
|
0.00001
|
|
NM_020708.5(SLC12A5):c.762G>A (p.Lys254=)
|
rs1046062288
|
0.00001
|
|
NM_020708.5(SLC12A5):c.861C>T (p.Cys287=)
|
rs375155469
|
0.00001
|
|
NM_020708.5(SLC12A5):c.900T>C (p.Asp300=)
|
rs765877175
|
0.00001
|
|
NM_020708.5(SLC12A5):c.969C>T (p.Ser323=)
|
rs1186052510
|
0.00001
|
|
NM_020708.5(SLC12A5):c.981C>G (p.Leu327=)
|
rs1246713640
|
0.00001
|
|
NM_020708.5(SLC12A5):c.984C>T (p.Asn328=)
|
rs754526924
|
0.00001
|
|
NM_020822.3(KCNT1):c.10C>T (p.Pro4Ser)
|
rs778405770
|
0.00001
|
|
NM_020822.3(KCNT1):c.110+9T>A
|
rs761910853
|
0.00001
|
|
NM_020822.3(KCNT1):c.1101T>A (p.Arg367=)
|
rs553751644
|
0.00001
|
|
NM_020822.3(KCNT1):c.1113G>A (p.Glu371=)
|
rs1217096141
|
0.00001
|
|
NM_020822.3(KCNT1):c.1167C>T (p.Phe389=)
|
rs868420087
|
0.00001
|
|
NM_020822.3(KCNT1):c.1176G>A (p.Glu392=)
|
rs149085499
|
0.00001
|
|
NM_020822.3(KCNT1):c.1200+16G>A
|
rs542132567
|
0.00001
|
|
NM_020822.3(KCNT1):c.1200+7C>T
|
rs1291798500
|
0.00001
|
|
NM_020822.3(KCNT1):c.1209C>T (p.Tyr403=)
|
rs374653926
|
0.00001
|
|
NM_020822.3(KCNT1):c.1337+17G>A
|
rs780243563
|
0.00001
|
|
NM_020822.3(KCNT1):c.1337+19A>G
|
rs1373490805
|
0.00001
|
|
NM_020822.3(KCNT1):c.1347T>C (p.Asn449=)
|
rs1383981222
|
0.00001
|
|
NM_020822.3(KCNT1):c.1356C>G (p.Ala452=)
|
rs138306663
|
0.00001
|
|
NM_020822.3(KCNT1):c.1365C>T (p.Ile455=)
|
rs1305510057
|
0.00001
|
|
NM_020822.3(KCNT1):c.1380C>T (p.Asn460=)
|
rs566700584
|
0.00001
|
|
NM_020822.3(KCNT1):c.1401+9G>A
|
rs1260793909
|
0.00001
|
|
NM_020822.3(KCNT1):c.1402-8C>T
|
rs1303785635
|
0.00001
|
|
NM_020822.3(KCNT1):c.1464C>T (p.Tyr488=)
|
rs375585422
|
0.00001
|
|
NM_020822.3(KCNT1):c.1476C>T (p.Leu492=)
|
rs756062584
|
0.00001
|
|
NM_020822.3(KCNT1):c.1511-5C>T
|
rs546333402
|
0.00001
|
|
NM_020822.3(KCNT1):c.1521G>A (p.Val507=)
|
rs759337224
|
0.00001
|
|
NM_020822.3(KCNT1):c.1524T>C (p.Cys508=)
|
rs1328119218
|
0.00001
|
|
NM_020822.3(KCNT1):c.1572G>A (p.Pro524=)
|
rs113333501
|
0.00001
|
|
NM_020822.3(KCNT1):c.1575G>A (p.Ala525=)
|
rs566045604
|
0.00001
|
|
NM_020822.3(KCNT1):c.1605C>T (p.His535=)
|
rs1339025046
|
0.00001
|
|
NM_020822.3(KCNT1):c.1608G>A (p.Thr536=)
|
rs768778333
|
0.00001
|
|
NM_020822.3(KCNT1):c.1620-13C>T
|
rs1255165614
|
0.00001
|
|
NM_020822.3(KCNT1):c.1671C>T (p.Ser557=)
|
rs772929290
|
0.00001
|
|
NM_020822.3(KCNT1):c.1700G>T (p.Gly567Val)
|
rs781375160
|
0.00001
|
|
NM_020822.3(KCNT1):c.1746C>T (p.Tyr582=)
|
rs763438119
|
0.00001
|
|
NM_020822.3(KCNT1):c.1769+9G>A
|
rs758402819
|
0.00001
|
|
NM_020822.3(KCNT1):c.1770-14G>A
|
rs756948128
|
0.00001
|
|
NM_020822.3(KCNT1):c.1770-4C>G
|
rs1422786351
|
0.00001
|
|
NM_020822.3(KCNT1):c.1812G>A (p.Lys604=)
|
rs754003723
|
0.00001
|
|
NM_020822.3(KCNT1):c.1851C>T (p.Ala617=)
|
rs1275903338
|
0.00001
|
|
NM_020822.3(KCNT1):c.1867T>C (p.Phe623Leu)
|
rs1392866875
|
0.00001
|
|
NM_020822.3(KCNT1):c.1887G>A (p.Lys629=)
|
rs531712032
|
0.00001
|
|
NM_020822.3(KCNT1):c.1905C>T (p.Phe635=)
|
rs1455339615
|
0.00001
|
|
NM_020822.3(KCNT1):c.1938G>T (p.Arg646Ser)
|
rs753543470
|
0.00001
|
|
NM_020822.3(KCNT1):c.1952A>G (p.Gln651Arg)
|
rs1022928641
|
0.00001
|
|
NM_020822.3(KCNT1):c.1963G>A (p.Glu655Lys)
|
rs770039542
|
0.00001
|
|
NM_020822.3(KCNT1):c.1970C>T (p.Pro657Leu)
|
rs566157365
|
0.00001
|
|
NM_020822.3(KCNT1):c.1971G>A (p.Pro657=)
|
rs773072248
|
0.00001
|
|
NM_020822.3(KCNT1):c.1988A>G (p.His663Arg)
|
rs1285595185
|
0.00001
|
|
NM_020822.3(KCNT1):c.1992C>T (p.Ser664=)
|
rs558095270
|
0.00001
|
|
NM_020822.3(KCNT1):c.1998C>T (p.Ile666=)
|
rs368777569
|
0.00001
|
|
NM_020822.3(KCNT1):c.2005A>G (p.Met669Val)
|
rs576552962
|
0.00001
|
|
NM_020822.3(KCNT1):c.2008+11A>G
|
rs762508818
|
0.00001
|
|
NM_020822.3(KCNT1):c.2009-9C>G
|
rs1832837736
|
0.00001
|
|
NM_020822.3(KCNT1):c.2028G>T (p.Leu676=)
|
rs1010117716
|
0.00001
|
|
NM_020822.3(KCNT1):c.2048C>A (p.Pro683His)
|
rs1411700632
|
0.00001
|
|
NM_020822.3(KCNT1):c.2049T>C (p.Pro683=)
|
rs1234688449
|
0.00001
|
|
NM_020822.3(KCNT1):c.2059G>A (p.Gly687Ser)
|
rs1156662870
|
0.00001
|
|
NM_020822.3(KCNT1):c.2061C>T (p.Gly687=)
|
rs748229745
|
0.00001
|
|
NM_020822.3(KCNT1):c.2062G>A (p.Gly688Ser)
|
rs570983410
|
0.00001
|
|
NM_020822.3(KCNT1):c.2103C>T (p.Asn701=)
|
rs375289689
|
0.00001
|
|
NM_020822.3(KCNT1):c.2133G>A (p.Ala711=)
|
rs755266973
|
0.00001
|
|
NM_020822.3(KCNT1):c.2196G>A (p.Ser732=)
|
rs557680361
|
0.00001
|
|
NM_020822.3(KCNT1):c.220C>A (p.Leu74Met)
|
rs943048769
|
0.00001
|
|
NM_020822.3(KCNT1):c.222G>T (p.Leu74=)
|
rs573574312
|
0.00001
|
|
NM_020822.3(KCNT1):c.2244-10C>T
|
rs758069398
|
0.00001
|
|
NM_020822.3(KCNT1):c.2244-17C>T
|
rs1024730518
|
0.00001
|
|
NM_020822.3(KCNT1):c.2244-5C>T
|
rs746682785
|
0.00001
|
|
NM_020822.3(KCNT1):c.2244G>C (p.Glu748Asp)
|
rs1333549995
|
0.00001
|
|
NM_020822.3(KCNT1):c.2265C>T (p.Pro755=)
|
rs1263083880
|
0.00001
|
|
NM_020822.3(KCNT1):c.2295C>T (p.Thr765=)
|
rs765278495
|
0.00001
|
|
NM_020822.3(KCNT1):c.22C>G (p.Arg8Gly)
|
rs747457929
|
0.00001
|
|
NM_020822.3(KCNT1):c.2350-3C>T
|
rs776607977
|
0.00001
|
|
NM_020822.3(KCNT1):c.2350-5C>T
|
rs965133345
|
0.00001
|
|
NM_020822.3(KCNT1):c.2409C>T (p.Ile803=)
|
rs557969167
|
0.00001
|
|
NM_020822.3(KCNT1):c.2412C>T (p.Ile804=)
|
rs559452456
|
0.00001
|
|
NM_020822.3(KCNT1):c.2421A>G (p.Ala807=)
|
rs765974520
|
0.00001
|
|
NM_020822.3(KCNT1):c.2522+13G>A
|
rs41310951
|
0.00001
|
|
NM_020822.3(KCNT1):c.2522+14G>A
|
rs947043112
|
0.00001
|
|
NM_020822.3(KCNT1):c.2523-13G>A
|
rs770824523
|
0.00001
|
|
NM_020822.3(KCNT1):c.2538C>T (p.Phe846=)
|
rs1251104570
|
0.00001
|
|
NM_020822.3(KCNT1):c.254+15C>G
|
rs1341686028
|
0.00001
|
|
NM_020822.3(KCNT1):c.255-12C>G
|
rs778749299
|
0.00001
|
|
NM_020822.3(KCNT1):c.255-4T>A
|
rs1564343924
|
0.00001
|
|
NM_020822.3(KCNT1):c.2559C>T (p.Phe853=)
|
rs1166992644
|
0.00001
|
|
NM_020822.3(KCNT1):c.2568C>T (p.Val856=)
|
rs1554777911
|
0.00001
|
|
NM_020822.3(KCNT1):c.2589G>A (p.Val863=)
|
rs558135119
|
0.00001
|
|
NM_020822.3(KCNT1):c.2594+14G>A
|
rs750707802
|
0.00001
|
|
NM_020822.3(KCNT1):c.2594+6G>A
|
rs973179248
|
0.00001
|
|
NM_020822.3(KCNT1):c.2595-15C>T
|
rs1190489711
|
0.00001
|
|
NM_020822.3(KCNT1):c.261G>A (p.Gln87=)
|
rs777687658
|
0.00001
|
|
NM_020822.3(KCNT1):c.2640G>C (p.Leu880=)
|
rs773647691
|
0.00001
|
|
NM_020822.3(KCNT1):c.2694C>T (p.Asp898=)
|
rs369904278
|
0.00001
|
|
NM_020822.3(KCNT1):c.2715G>A (p.Val905=)
|
rs771377696
|
0.00001
|
|
NM_020822.3(KCNT1):c.2729+15C>T
|
rs200624821
|
0.00001
|
|
NM_020822.3(KCNT1):c.2799C>T (p.Arg933=)
|
rs551148089
|
0.00001
|
|
NM_020822.3(KCNT1):c.2814C>T (p.Tyr938=)
|
rs767742382
|
0.00001
|
|
NM_020822.3(KCNT1):c.285C>T (p.Asn95=)
|
rs558966732
|
0.00001
|
|
NM_020822.3(KCNT1):c.2865C>T (p.Asn955=)
|
rs142596339
|
0.00001
|
|
NM_020822.3(KCNT1):c.2904C>T (p.Arg968=)
|
rs986294962
|
0.00001
|
|
NM_020822.3(KCNT1):c.2943+14C>T
|
rs562923809
|
0.00001
|
|
NM_020822.3(KCNT1):c.2944-14C>G
|
rs1387209716
|
0.00001
|
|
NM_020822.3(KCNT1):c.2997C>T (p.Asp999=)
|
rs771951768
|
0.00001
|
|
NM_020822.3(KCNT1):c.3000C>T (p.Thr1000=)
|
rs1209287528
|
0.00001
|
|
NM_020822.3(KCNT1):c.300G>A (p.Arg100=)
|
rs762249620
|
0.00001
|
|
NM_020822.3(KCNT1):c.3012G>A (p.Ser1004=)
|
rs751965012
|
0.00001
|
|
NM_020822.3(KCNT1):c.3027+19G>A
|
rs778490327
|
0.00001
|
|
NM_020822.3(KCNT1):c.3028-16G>A
|
rs1236949709
|
0.00001
|
|
NM_020822.3(KCNT1):c.3048C>T (p.Asp1016=)
|
rs748942066
|
0.00001
|
|
NM_020822.3(KCNT1):c.3096C>T (p.Ser1032=)
|
rs1360446142
|
0.00001
|
|
NM_020822.3(KCNT1):c.3099C>T (p.Ser1033=)
|
rs377554985
|
0.00001
|
|
NM_020822.3(KCNT1):c.3105G>A (p.Glu1035=)
|
rs1833915179
|
0.00001
|
|
NM_020822.3(KCNT1):c.3108C>A (p.Ile1036=)
|
rs370878235
|
0.00001
|
|
NM_020822.3(KCNT1):c.3147C>T (p.Ser1049=)
|
rs765432746
|
0.00001
|
|
NM_020822.3(KCNT1):c.3177+16G>A
|
rs749539780
|
0.00001
|
|
NM_020822.3(KCNT1):c.3177+9C>T
|
rs781750496
|
0.00001
|
|
NM_020822.3(KCNT1):c.3195C>T (p.Asn1065=)
|
rs747248633
|
0.00001
|
|
NM_020822.3(KCNT1):c.3231G>A (p.Gly1077=)
|
rs375957383
|
0.00001
|
|
NM_020822.3(KCNT1):c.3241T>C (p.Ser1081Pro)
|
rs1312042895
|
0.00001
|
|
NM_020822.3(KCNT1):c.3282G>A (p.Thr1094=)
|
rs754919919
|
0.00001
|
|
NM_020822.3(KCNT1):c.3319C>T (p.Arg1107Cys)
|
rs750627411
|
0.00001
|
|
NM_020822.3(KCNT1):c.3360G>A (p.Ala1120=)
|
rs768977873
|
0.00001
|
|
NM_020822.3(KCNT1):c.3400A>G (p.Ser1134Gly)
|
rs1332070255
|
0.00001
|
|
NM_020822.3(KCNT1):c.3435G>A (p.Glu1145=)
|
rs1373486252
|
0.00001
|
|
NM_020822.3(KCNT1):c.3483G>T (p.Gly1161=)
|
rs371640443
|
0.00001
|
|
NM_020822.3(KCNT1):c.3502+13G>A
|
rs769937688
|
0.00001
|
|
NM_020822.3(KCNT1):c.3503-15C>T
|
rs373596158
|
0.00001
|
|
NM_020822.3(KCNT1):c.3503-16G>C
|
rs1343359299
|
0.00001
|
|
NM_020822.3(KCNT1):c.3554C>T (p.Pro1185Leu)
|
rs544495873
|
0.00001
|
|
NM_020822.3(KCNT1):c.3561C>T (p.Asp1187=)
|
rs773695396
|
0.00001
|
|
NM_020822.3(KCNT1):c.3564G>A (p.Thr1188=)
|
rs530040739
|
0.00001
|
|
NM_020822.3(KCNT1):c.3582C>T (p.Asp1194=)
|
rs1375394882
|
0.00001
|
|
NM_020822.3(KCNT1):c.3587+14G>A
|
rs765545901
|
0.00001
|
|
NM_020822.3(KCNT1):c.3588-3C>T
|
rs1222157071
|
0.00001
|
|
NM_020822.3(KCNT1):c.3588-5C>T
|
rs765277880
|
0.00001
|
|
NM_020822.3(KCNT1):c.3618C>T (p.His1206=)
|
rs577378740
|
0.00001
|
|
NM_020822.3(KCNT1):c.3619G>A (p.Val1207Met)
|
rs766339368
|
0.00001
|
|
NM_020822.3(KCNT1):c.3632C>G (p.Ser1211Cys)
|
rs752729337
|
0.00001
|
|
NM_020822.3(KCNT1):c.3664C>T (p.Leu1222=)
|
rs755694160
|
0.00001
|
|
NM_020822.3(KCNT1):c.3693C>T (p.Asp1231=)
|
rs758617654
|
0.00001
|
|
NM_020822.3(KCNT1):c.41G>C (p.Cys14Ser)
|
rs750374521
|
0.00001
|
|
NM_020822.3(KCNT1):c.429C>T (p.Ile143=)
|
rs767429133
|
0.00001
|
|
NM_020822.3(KCNT1):c.430G>A (p.Gly144Arg)
|
rs1157678641
|
0.00001
|
|
NM_020822.3(KCNT1):c.434+13C>T
|
rs748845591
|
0.00001
|
|
NM_020822.3(KCNT1):c.434+19C>T
|
rs772750955
|
0.00001
|
|
NM_020822.3(KCNT1):c.434+20G>A
|
rs773820998
|
0.00001
|
|
NM_020822.3(KCNT1):c.435-6C>T
|
rs370235990
|
0.00001
|
|
NM_020822.3(KCNT1):c.462C>T (p.Ser154=)
|
rs1298529710
|
0.00001
|
|
NM_020822.3(KCNT1):c.47A>T (p.Glu16Val)
|
rs755980218
|
0.00001
|
|
NM_020822.3(KCNT1):c.481G>A (p.Glu161Lys)
|
rs770108075
|
0.00001
|
|
NM_020822.3(KCNT1):c.4C>G (p.Pro2Ala)
|
rs748898708
|
0.00001
|
|
NM_020822.3(KCNT1):c.502C>T (p.Leu168=)
|
rs1175336277
|
0.00001
|
|
NM_020822.3(KCNT1):c.50C>T (p.Ala17Val)
|
rs377687237
|
0.00001
|
|
NM_020822.3(KCNT1):c.546C>T (p.Ile182=)
|
rs778118549
|
0.00001
|
|
NM_020822.3(KCNT1):c.55G>A (p.Gly19Ser)
|
rs778657830
|
0.00001
|
|
NM_020822.3(KCNT1):c.567G>A (p.Leu189=)
|
rs372998864
|
0.00001
|
|
NM_020822.3(KCNT1):c.601-17C>A
|
rs1242080755
|
0.00001
|
|
NM_020822.3(KCNT1):c.601-4C>G
|
rs752516170
|
0.00001
|
|
NM_020822.3(KCNT1):c.636C>T (p.Phe212=)
|
rs769137731
|
0.00001
|
|
NM_020822.3(KCNT1):c.642G>A (p.Leu214=)
|
rs749747344
|
0.00001
|
|
NM_020822.3(KCNT1):c.645G>A (p.Glu215=)
|
rs1233969286
|
0.00001
|
|
NM_020822.3(KCNT1):c.65A>G (p.Tyr22Cys)
|
rs551930493
|
0.00001
|
|
NM_020822.3(KCNT1):c.675+10C>T
|
rs1045068086
|
0.00001
|
|
NM_020822.3(KCNT1):c.687G>A (p.Pro229=)
|
rs748796809
|
0.00001
|
|
NM_020822.3(KCNT1):c.741C>T (p.His247=)
|
rs1218041775
|
0.00001
|
|
NM_020822.3(KCNT1):c.759+11G>A
|
rs1376011545
|
0.00001
|
|
NM_020822.3(KCNT1):c.759+8G>A
|
rs370804021
|
0.00001
|
|
NM_020822.3(KCNT1):c.765C>T (p.Asp255=)
|
rs1167927802
|
0.00001
|
|
NM_020822.3(KCNT1):c.777C>T (p.Ala259=)
|
rs759317415
|
0.00001
|
|
NM_020822.3(KCNT1):c.804C>T (p.Phe268=)
|
rs138371302
|
0.00001
|
|
NM_020822.3(KCNT1):c.81C>T (p.Phe27=)
|
rs761869915
|
0.00001
|
|
NM_020822.3(KCNT1):c.835C>T (p.Leu279=)
|
rs1187706487
|
0.00001
|
|
NM_020822.3(KCNT1):c.854+19T>G
|
rs762382117
|
0.00001
|
|
NM_020822.3(KCNT1):c.855-12C>T
|
rs1042693872
|
0.00001
|
|
NM_020822.3(KCNT1):c.861C>T (p.Cys287=)
|
rs750884338
|
0.00001
|
|
NM_020822.3(KCNT1):c.882G>A (p.Arg294=)
|
rs755272136
|
0.00001
|
|
NM_020822.3(KCNT1):c.903C>T (p.Leu301=)
|
rs1588330751
|
0.00001
|
|
NM_020822.3(KCNT1):c.90C>T (p.Asp30=)
|
rs1385683784
|
0.00001
|
|
NM_020988.3(GNAO1):c.1011C>T (p.Asp337=)
|
rs375683292
|
0.00001
|
|
NM_020988.3(GNAO1):c.119-17T>C
|
rs759192540
|
0.00001
|
|
NM_020988.3(GNAO1):c.119-5A>G
|
rs775212759
|
0.00001
|
|
NM_020988.3(GNAO1):c.132A>G (p.Ser44=)
|
rs1461948245
|
0.00001
|
|
NM_020988.3(GNAO1):c.161+12T>G
|
rs761912841
|
0.00001
|
|
NM_020988.3(GNAO1):c.161+13G>T
|
rs767965127
|
0.00001
|
|
NM_020988.3(GNAO1):c.161+9C>T
|
rs751608846
|
0.00001
|
|
NM_020988.3(GNAO1):c.257G>A (p.Arg86Gln)
|
rs1301302019
|
0.00001
|
|
NM_020988.3(GNAO1):c.267C>T (p.Asp89=)
|
rs201728736
|
0.00001
|
|
NM_020988.3(GNAO1):c.333G>A (p.Val111=)
|
rs61758988
|
0.00001
|
|
NM_020988.3(GNAO1):c.495C>T (p.Ala165=)
|
rs745503611
|
0.00001
|
|
NM_020988.3(GNAO1):c.549T>G (p.Thr183=)
|
rs767417261
|
0.00001
|
|
NM_020988.3(GNAO1):c.54G>A (p.Ala18=)
|
rs1288429932
|
0.00001
|
|
NM_020988.3(GNAO1):c.593+17C>A
|
rs778086425
|
0.00001
|
|
NM_020988.3(GNAO1):c.616C>A (p.Arg206=)
|
rs2037743862
|
0.00001
|
|
NM_020988.3(GNAO1):c.66C>T (p.Asn22=)
|
rs1215228286
|
0.00001
|
|
NM_020988.3(GNAO1):c.678C>T (p.Val226=)
|
rs760476691
|
0.00001
|
|
NM_020988.3(GNAO1):c.681G>A (p.Ala227=)
|
rs770769352
|
0.00001
|
|
NM_020988.3(GNAO1):c.714C>T (p.Asp238=)
|
rs752775959
|
0.00001
|
|
NM_020988.3(GNAO1):c.724-5C>T
|
rs529454065
|
0.00001
|
|
NM_020988.3(GNAO1):c.735C>T (p.His245=)
|
rs201930720
|
0.00001
|
|
NM_020988.3(GNAO1):c.753C>T (p.Phe251=)
|
rs755484788
|
0.00001
|
|
NM_020988.3(GNAO1):c.783C>T (p.Ile261=)
|
rs752997228
|
0.00001
|
|
NM_020988.3(GNAO1):c.877+20G>A
|
rs1222479179
|
0.00001
|
|
NM_020988.3(GNAO1):c.878-10C>G
|
rs374412223
|
0.00001
|
|
NM_021072.4(HCN1):c.1065C>T (p.His355=)
|
rs200829129
|
0.00001
|
|
NM_021072.4(HCN1):c.1113C>T (p.Asp371=)
|
rs761981654
|
0.00001
|
|
NM_021072.4(HCN1):c.1152C>A (p.Thr384=)
|
rs764282200
|
0.00001
|
|
NM_021072.4(HCN1):c.1209G>A (p.Ser403=)
|
rs759480243
|
0.00001
|
|
NM_021072.4(HCN1):c.1218G>A (p.Gln406=)
|
rs1384214329
|
0.00001
|
|
NM_021072.4(HCN1):c.1305T>C (p.Tyr435=)
|
rs1342395210
|
0.00001
|
|
NM_021072.4(HCN1):c.1320A>G (p.Gln440=)
|
rs375902844
|
0.00001
|
|
NM_021072.4(HCN1):c.1338G>A (p.Glu446=)
|
rs878855067
|
0.00001
|
|
NM_021072.4(HCN1):c.1343A>G (p.Asn448Ser)
|
rs752944351
|
0.00001
|
|
NM_021072.4(HCN1):c.1378-4T>C
|
rs767538006
|
0.00001
|
|
NM_021072.4(HCN1):c.1378-9C>T
|
rs1442110194
|
0.00001
|
|
NM_021072.4(HCN1):c.1551C>T (p.His517=)
|
rs1007416378
|
0.00001
|
|
NM_021072.4(HCN1):c.1578C>A (p.Ser526=)
|
rs1478297290
|
0.00001
|
|
NM_021072.4(HCN1):c.1618+14A>T
|
rs761070627
|
0.00001
|
|
NM_021072.4(HCN1):c.1619-17G>C
|
rs777720710
|
0.00001
|
|
NM_021072.4(HCN1):c.168C>T (p.Ser56=)
|
rs996210990
|
0.00001
|
|
NM_021072.4(HCN1):c.1783+10T>C
|
rs776948676
|
0.00001
|
|
NM_021072.4(HCN1):c.1783+16A>C
|
rs770876235
|
0.00001
|
|
NM_021072.4(HCN1):c.1980G>A (p.Met660Ile)
|
rs1335934380
|
0.00001
|
|
NM_021072.4(HCN1):c.2030A>G (p.Asn677Ser)
|
rs1199032164
|
0.00001
|
|
NM_021072.4(HCN1):c.2077A>G (p.Ile693Val)
|
rs377359279
|
0.00001
|
|
NM_021072.4(HCN1):c.2083T>G (p.Ser695Ala)
|
rs750463999
|
0.00001
|
|
NM_021072.4(HCN1):c.2247G>A (p.Gln749=)
|
rs1744762588
|
0.00001
|
|
NM_021072.4(HCN1):c.2259G>A (p.Pro753=)
|
rs752434266
|
0.00001
|
|
NM_021072.4(HCN1):c.2310C>T (p.Ser770=)
|
rs749727167
|
0.00001
|
|
NM_021072.4(HCN1):c.2346A>G (p.Glu782=)
|
rs1338055183
|
0.00001
|
|
NM_021072.4(HCN1):c.2353C>T (p.Pro785Ser)
|
rs778039525
|
0.00001
|
|
NM_021072.4(HCN1):c.2364C>T (p.Ala788=)
|
rs948061807
|
0.00001
|
|
NM_021072.4(HCN1):c.2427C>T (p.Gly809=)
|
rs774013410
|
0.00001
|
|
NM_021072.4(HCN1):c.2430G>A (p.Glu810=)
|
rs1744755026
|
0.00001
|
|
NM_021072.4(HCN1):c.2462C>T (p.Ala821Val)
|
rs371602396
|
0.00001
|
|
NM_021072.4(HCN1):c.2475G>C (p.Thr825=)
|
rs753637793
|
0.00001
|
|
NM_021072.4(HCN1):c.2487A>G (p.Ala829=)
|
rs1744753344
|
0.00001
|
|
NM_021072.4(HCN1):c.2514C>G (p.Arg838=)
|
rs1561078915
|
0.00001
|
|
NM_021072.4(HCN1):c.2581C>A (p.Pro861Thr)
|
rs756753787
|
0.00001
|
|
NM_021072.4(HCN1):c.2604A>G (p.Pro868=)
|
rs1362126619
|
0.00001
|
|
NM_021072.4(HCN1):c.262C>G (p.Arg88Gly)
|
rs774375241
|
0.00001
|
|
NM_021072.4(HCN1):c.267G>A (p.Arg89=)
|
rs775226551
|
0.00001
|
|
NM_021072.4(HCN1):c.270G>A (p.Gln90=)
|
rs886043090
|
0.00001
|
|
NM_021072.4(HCN1):c.348C>T (p.Ser116=)
|
rs767232327
|
0.00001
|
|
NM_021072.4(HCN1):c.360G>A (p.Val120=)
|
rs751582076
|
0.00001
|
|
NM_021072.4(HCN1):c.425+13G>C
|
rs1451530513
|
0.00001
|
|
NM_021072.4(HCN1):c.425+17G>C
|
rs774888673
|
0.00001
|
|
NM_021072.4(HCN1):c.495A>G (p.Thr165=)
|
rs763384509
|
0.00001
|
|
NM_021072.4(HCN1):c.537T>C (p.Asn179=)
|
rs933620684
|
0.00001
|
|
NM_021072.4(HCN1):c.546A>G (p.Ser182=)
|
rs769798851
|
0.00001
|
|
NM_021072.4(HCN1):c.597C>T (p.Val199=)
|
rs1051820929
|
0.00001
|
|
NM_021072.4(HCN1):c.69C>T (p.Ala23=)
|
rs1060503835
|
0.00001
|
|
NM_021072.4(HCN1):c.702T>C (p.Tyr234=)
|
rs370083488
|
0.00001
|
|
NM_021072.4(HCN1):c.711T>C (p.Leu237=)
|
rs1381111783
|
0.00001
|
|
NM_021072.4(HCN1):c.78C>T (p.Ser26=)
|
rs1245838252
|
0.00001
|
|
NM_021072.4(HCN1):c.864A>G (p.Thr288=)
|
rs760071472
|
0.00001
|
|
NM_021072.4(HCN1):c.90G>C (p.Ala30=)
|
rs1290982240
|
0.00001
|
|
NM_021072.4(HCN1):c.921C>T (p.Leu307=)
|
rs1385704339
|
0.00001
|
|
NM_021072.4(HCN1):c.987C>T (p.Cys329=)
|
rs201361412
|
0.00001
|
|
NM_031844.3(HNRNPU):c.1118-6T>C
|
rs145037892
|
0.00001
|
|
NM_031844.3(HNRNPU):c.1140G>A (p.Gly380=)
|
rs1386177443
|
0.00001
|
|
NM_031844.3(HNRNPU):c.1180G>C (p.Glu394Gln)
|
rs371598663
|
0.00001
|
|
NM_031844.3(HNRNPU):c.1183G>C (p.Asp395His)
|
rs777962801
|
0.00001
|
|
NM_031844.3(HNRNPU):c.1216A>G (p.Ile406Val)
|
rs773409645
|
0.00001
|
|
NM_031844.3(HNRNPU):c.1230+18T>G
|
rs369082252
|
0.00001
|
|
NM_031844.3(HNRNPU):c.1231-5A>G
|
rs952414764
|
0.00001
|
|
NM_031844.3(HNRNPU):c.1272T>C (p.Asn424=)
|
rs768082015
|
0.00001
|
|
NM_031844.3(HNRNPU):c.1287C>T (p.Gly429=)
|
rs754530060
|
0.00001
|
|
NM_031844.3(HNRNPU):c.132C>T (p.Asp44=)
|
rs1260101788
|
0.00001
|
|
NM_031844.3(HNRNPU):c.1338G>T (p.Pro446=)
|
rs752673312
|
0.00001
|
|
NM_031844.3(HNRNPU):c.1458A>G (p.Arg486=)
|
rs748355426
|
0.00001
|
|
NM_031844.3(HNRNPU):c.1488T>C (p.Asp496=)
|
rs755100242
|
0.00001
|
|
NM_031844.3(HNRNPU):c.1494+14T>G
|
rs750711704
|
0.00001
|
|
NM_031844.3(HNRNPU):c.1495-11C>T
|
rs1049179447
|
0.00001
|
|
NM_031844.3(HNRNPU):c.1495-16C>T
|
rs780642044
|
0.00001
|
|
NM_031844.3(HNRNPU):c.1578C>T (p.Asn526=)
|
rs760203789
|
0.00001
|
|
NM_031844.3(HNRNPU):c.1590A>G (p.Thr530=)
|
rs1466576939
|
0.00001
|
|
NM_031844.3(HNRNPU):c.1614+7A>G
|
rs1359131241
|
0.00001
|
|
NM_031844.3(HNRNPU):c.183C>T (p.Asp61=)
|
rs1234071642
|
0.00001
|
|
NM_031844.3(HNRNPU):c.1875G>C (p.Gly625=)
|
rs774533310
|
0.00001
|
|
NM_031844.3(HNRNPU):c.1913-8T>C
|
rs868188663
|
0.00001
|
|
NM_031844.3(HNRNPU):c.1926C>T (p.Leu642=)
|
rs574556630
|
0.00001
|
|
NM_031844.3(HNRNPU):c.1968A>G (p.Glu656=)
|
rs1245826828
|
0.00001
|
|
NM_031844.3(HNRNPU):c.2013A>G (p.Glu671=)
|
rs373573514
|
0.00001
|
|
NM_031844.3(HNRNPU):c.2028T>C (p.Ala676=)
|
rs765207574
|
0.00001
|
|
NM_031844.3(HNRNPU):c.2031T>C (p.Leu677=)
|
rs1680670991
|
0.00001
|
|
NM_031844.3(HNRNPU):c.2052C>T (p.Asn684=)
|
rs1680670133
|
0.00001
|
|
NM_031844.3(HNRNPU):c.210G>C (p.Ser70=)
|
rs761107762
|
0.00001
|
|
NM_031844.3(HNRNPU):c.2193T>C (p.Asn731=)
|
rs372228779
|
0.00001
|
|
NM_031844.3(HNRNPU):c.2226C>T (p.Gly742=)
|
rs759916978
|
0.00001
|
|
NM_031844.3(HNRNPU):c.2247C>T (p.Ile749=)
|
rs1060504188
|
0.00001
|
|
NM_031844.3(HNRNPU):c.2248G>A (p.Gly750Ser)
|
rs1360721056
|
0.00001
|
|
NM_031844.3(HNRNPU):c.2313C>T (p.Tyr771=)
|
rs201310004
|
0.00001
|
|
NM_031844.3(HNRNPU):c.2353-22_2353-17del
|
rs1454005442
|
0.00001
|
|
NM_031844.3(HNRNPU):c.2359A>C (p.Arg787=)
|
rs1232065158
|
0.00001
|
|
NM_031844.3(HNRNPU):c.288C>T (p.Ile96=)
|
rs746145300
|
0.00001
|
|
NM_031844.3(HNRNPU):c.30G>A (p.Lys10=)
|
rs1319381762
|
0.00001
|
|
NM_031844.3(HNRNPU):c.318A>G (p.Leu106=)
|
rs1003329200
|
0.00001
|
|
NM_031844.3(HNRNPU):c.336C>T (p.Ala112=)
|
rs753169165
|
0.00001
|
|
NM_031844.3(HNRNPU):c.393G>A (p.Glu131=)
|
rs1262700547
|
0.00001
|
|
NM_031844.3(HNRNPU):c.402C>T (p.Asp134=)
|
rs1263252282
|
0.00001
|
|
NM_031844.3(HNRNPU):c.439G>A (p.Asp147Asn)
|
rs781659437
|
0.00001
|
|
NM_031844.3(HNRNPU):c.453C>T (p.Gly151=)
|
rs757950940
|
0.00001
|
|
NM_031844.3(HNRNPU):c.465G>A (p.Glu155=)
|
rs776778115
|
0.00001
|
|
NM_031844.3(HNRNPU):c.489T>G (p.Pro163=)
|
rs760562563
|
0.00001
|
|
NM_031844.3(HNRNPU):c.533G>C (p.Gly178Ala)
|
rs1345467904
|
0.00001
|
|
NM_031844.3(HNRNPU):c.561C>T (p.Ser187=)
|
rs750106010
|
0.00001
|
|
NM_031844.3(HNRNPU):c.624G>A (p.Gln208=)
|
rs1372261485
|
0.00001
|
|
NM_031844.3(HNRNPU):c.659G>T (p.Gly220Val)
|
rs1463061163
|
0.00001
|
|
NM_031844.3(HNRNPU):c.691+10G>A
|
rs1023031250
|
0.00001
|
|
NM_031844.3(HNRNPU):c.692-7G>A
|
rs1315333777
|
0.00001
|
|
NM_031844.3(HNRNPU):c.715G>A (p.Gly239Ser)
|
rs1014292464
|
0.00001
|
|
NM_031844.3(HNRNPU):c.803+12T>A
|
rs777993902
|
0.00001
|
|
NM_031844.3(HNRNPU):c.804-7C>T
|
rs370940607
|
0.00001
|
|
NM_031844.3(HNRNPU):c.81C>T (p.Asp27=)
|
rs1259160579
|
0.00001
|
|
NM_031844.3(HNRNPU):c.936A>G (p.Thr312=)
|
rs759104889
|
0.00001
|
|
NM_031844.3(HNRNPU):c.981T>C (p.Tyr327=)
|
rs1060504189
|
0.00001
|
|
NM_139058.3(ARX):c.1027C>T (p.Leu343=)
|
rs370974597
|
0.00001
|
|
NM_139058.3(ARX):c.1073+19C>T
|
rs2048708046
|
0.00001
|
|
NM_139058.3(ARX):c.1073+9G>C
|
rs779717915
|
0.00001
|
|
NM_139058.3(ARX):c.1182C>T (p.His394=)
|
rs950461742
|
0.00001
|
|
NM_139058.3(ARX):c.1194G>T (p.Leu398=)
|
rs1211813471
|
0.00001
|
|
NM_139058.3(ARX):c.1233C>T (p.Ser411=)
|
rs1275814443
|
0.00001
|
|
NM_139058.3(ARX):c.124C>A (p.Arg42=)
|
rs866153168
|
0.00001
|
|
NM_139058.3(ARX):c.1257C>T (p.Phe419=)
|
rs1248729100
|
0.00001
|
|
NM_139058.3(ARX):c.1284C>T (p.Ser428=)
|
rs1202135194
|
0.00001
|
|
NM_139058.3(ARX):c.137C>A (p.Ala46Asp)
|
rs753049882
|
0.00001
|
|
NM_139058.3(ARX):c.1404G>T (p.Ala468=)
|
rs794727657
|
0.00001
|
|
NM_139058.3(ARX):c.1448+9C>A
|
rs759009252
|
0.00001
|
|
NM_139058.3(ARX):c.1542G>A (p.Ser514=)
|
rs1240255602
|
0.00001
|
|
NM_139058.3(ARX):c.1572C>T (p.Ala524=)
|
rs1601945631
|
0.00001
|
|
NM_139058.3(ARX):c.1605G>C (p.Leu535=)
|
rs1480681695
|
0.00001
|
|
NM_139058.3(ARX):c.179C>G (p.Pro60Arg)
|
rs1335616654
|
0.00001
|
|
NM_139058.3(ARX):c.187G>A (p.Ala63Thr)
|
rs769996976
|
0.00001
|
|
NM_139058.3(ARX):c.241C>T (p.Leu81=)
|
rs1601948822
|
0.00001
|
|
NM_139058.3(ARX):c.318G>C (p.Ala106=)
|
rs997762920
|
0.00001
|
|
NM_139058.3(ARX):c.330G>C (p.Ala110=)
|
rs1416343691
|
0.00001
|
|
NM_139058.3(ARX):c.351C>A (p.Ala117=)
|
rs1313243538
|
0.00001
|
|
NM_139058.3(ARX):c.372G>A (p.Glu124=)
|
rs1006764242
|
0.00001
|
|
NM_139058.3(ARX):c.543C>T (p.Pro181=)
|
rs587780854
|
0.00001
|
|
NM_139058.3(ARX):c.611G>A (p.Arg204His)
|
rs755745002
|
0.00001
|
|
NM_139058.3(ARX):c.639C>T (p.Ser213=)
|
rs2048710797
|
0.00001
|
|
NM_139058.3(ARX):c.657T>C (p.Gly219=)
|
rs755317735
|
0.00001
|
|
NM_139058.3(ARX):c.678C>T (p.Asp226=)
|
rs764730866
|
0.00001
|
|
NM_139058.3(ARX):c.770G>C (p.Arg257Pro)
|
rs1239494313
|
0.00001
|
|
NM_139058.3(ARX):c.807C>T (p.Ala269=)
|
rs587783205
|
0.00001
|
|
NM_139058.3(ARX):c.825C>T (p.Ala275=)
|
rs922800521
|
0.00001
|
|
NM_139058.3(ARX):c.837C>G (p.Ala279=)
|
rs1190644757
|
0.00001
|
|
NM_139058.3(ARX):c.840T>C (p.Ala280=)
|
rs936582415
|
0.00001
|
|
NM_139058.3(ARX):c.873C>G (p.Pro291=)
|
rs1359275622
|
0.00001
|
|
NM_139058.3(ARX):c.8A>G (p.Asn3Ser)
|
rs771031915
|
0.00001
|
|
NM_139318.5(KCNH5):c.1032T>C (p.Tyr344=)
|
rs371163377
|
0.00001
|
|
NM_139318.5(KCNH5):c.1047C>T (p.Leu349=)
|
rs377667112
|
0.00001
|
|
NM_139318.5(KCNH5):c.1110C>T (p.Ile370=)
|
rs758631477
|
0.00001
|
|
NM_139318.5(KCNH5):c.111T>C (p.Asp37=)
|
rs888168430
|
0.00001
|
|
NM_139318.5(KCNH5):c.1272C>T (p.Tyr424=)
|
rs115182827
|
0.00001
|
|
NM_139318.5(KCNH5):c.1302A>C (p.Gly434=)
|
rs754439480
|
0.00001
|
|
NM_139318.5(KCNH5):c.1453C>T (p.Leu485=)
|
rs554047274
|
0.00001
|
|
NM_139318.5(KCNH5):c.147A>G (p.Lys49=)
|
rs752798442
|
0.00001
|
|
NM_139318.5(KCNH5):c.1569+14T>C
|
rs1324927158
|
0.00001
|
|
NM_139318.5(KCNH5):c.1569+7G>T
|
rs771120157
|
0.00001
|
|
NM_139318.5(KCNH5):c.1625G>A (p.Arg542Gln)
|
rs762196737
|
0.00001
|
|
NM_139318.5(KCNH5):c.1688C>T (p.Ala563Val)
|
rs1261631537
|
0.00001
|
|
NM_139318.5(KCNH5):c.1812G>A (p.Val604=)
|
rs764572114
|
0.00001
|
|
NM_139318.5(KCNH5):c.1881T>C (p.Cys627=)
|
rs145927509
|
0.00001
|
|
NM_139318.5(KCNH5):c.1924A>G (p.Lys642Glu)
|
rs1457212190
|
0.00001
|
|
NM_139318.5(KCNH5):c.198-4C>T
|
rs967461521
|
0.00001
|
|
NM_139318.5(KCNH5):c.2019+13G>C
|
rs1441813338
|
0.00001
|
|
NM_139318.5(KCNH5):c.2019+9T>C
|
rs1207646695
|
0.00001
|
|
NM_139318.5(KCNH5):c.2020-10C>T
|
rs755413247
|
0.00001
|
|
NM_139318.5(KCNH5):c.2064G>A (p.Glu688=)
|
rs766131657
|
0.00001
|
|
NM_139318.5(KCNH5):c.2075A>G (p.Gln692Arg)
|
rs372088477
|
0.00001
|
|
NM_139318.5(KCNH5):c.2253C>T (p.Ser751=)
|
rs772353105
|
0.00001
|
|
NM_139318.5(KCNH5):c.2322T>C (p.Leu774=)
|
rs1479602373
|
0.00001
|
|
NM_139318.5(KCNH5):c.2360A>G (p.Asn787Ser)
|
rs745444217
|
0.00001
|
|
NM_139318.5(KCNH5):c.2362G>A (p.Gly788Ser)
|
rs369811431
|
0.00001
|
|
NM_139318.5(KCNH5):c.2366G>T (p.Gly789Val)
|
rs767520778
|
0.00001
|
|
NM_139318.5(KCNH5):c.2421T>C (p.Asn807=)
|
rs746564507
|
0.00001
|
|
NM_139318.5(KCNH5):c.2667C>T (p.Pro889=)
|
rs1595587325
|
0.00001
|
|
NM_139318.5(KCNH5):c.2730G>A (p.Leu910=)
|
rs764788193
|
0.00001
|
|
NM_139318.5(KCNH5):c.2745C>T (p.His915=)
|
rs138093802
|
0.00001
|
|
NM_139318.5(KCNH5):c.2838C>T (p.Ser946=)
|
rs763905666
|
0.00001
|
|
NM_139318.5(KCNH5):c.305-6T>C
|
rs772485576
|
0.00001
|
|
NM_139318.5(KCNH5):c.429A>G (p.Thr143=)
|
rs141293467
|
0.00001
|
|
NM_139318.5(KCNH5):c.522G>C (p.Val174=)
|
rs781693873
|
0.00001
|
|
NM_139318.5(KCNH5):c.550-14T>A
|
rs568562749
|
0.00001
|
|
NM_139318.5(KCNH5):c.550-17C>A
|
rs1422234778
|
0.00001
|
|
NM_139318.5(KCNH5):c.606G>A (p.Thr202=)
|
rs961145593
|
0.00001
|
|
NM_139318.5(KCNH5):c.73+12T>G
|
rs369384497
|
0.00001
|
|
NM_139318.5(KCNH5):c.756T>C (p.Ser252=)
|
rs754025425
|
0.00001
|
|
NM_139318.5(KCNH5):c.936G>T (p.Val312=)
|
rs768010526
|
0.00001
|
|
NM_139318.5(KCNH5):c.960C>T (p.Phe320=)
|
rs751951284
|
0.00001
|
|
NM_152743.4(BRAT1):c.1005C>T (p.Pro335=)
|
rs1028978875
|
0.00001
|
|
NM_152743.4(BRAT1):c.1011C>T (p.Pro337=)
|
rs1446113663
|
0.00001
|
|
NM_152743.4(BRAT1):c.1047G>A (p.Thr349=)
|
rs1461112353
|
0.00001
|
|
NM_152743.4(BRAT1):c.1077G>A (p.Ser359=)
|
rs756817824
|
0.00001
|
|
NM_152743.4(BRAT1):c.1083C>T (p.Cys361=)
|
rs751166170
|
0.00001
|
|
NM_152743.4(BRAT1):c.1107G>A (p.Leu369=)
|
rs372833320
|
0.00001
|
|
NM_152743.4(BRAT1):c.1123C>T (p.Leu375=)
|
rs1297433298
|
0.00001
|
|
NM_152743.4(BRAT1):c.1135-4G>A
|
rs1404214519
|
0.00001
|
|
NM_152743.4(BRAT1):c.114G>C (p.Thr38=)
|
rs966762013
|
0.00001
|
|
NM_152743.4(BRAT1):c.1212G>A (p.Ser404=)
|
rs767393976
|
0.00001
|
|
NM_152743.4(BRAT1):c.1308G>A (p.Leu436=)
|
rs1008301744
|
0.00001
|
|
NM_152743.4(BRAT1):c.1347G>A (p.Ala449=)
|
rs994170901
|
0.00001
|
|
NM_152743.4(BRAT1):c.1371C>T (p.Leu457=)
|
rs368441113
|
0.00001
|
|
NM_152743.4(BRAT1):c.1396-18C>G
|
rs1779014718
|
0.00001
|
|
NM_152743.4(BRAT1):c.1396-5T>C
|
rs1583296338
|
0.00001
|
|
NM_152743.4(BRAT1):c.1404G>A (p.Lys468=)
|
rs771129655
|
0.00001
|
|
NM_152743.4(BRAT1):c.1422G>A (p.Thr474=)
|
rs553366638
|
0.00001
|
|
NM_152743.4(BRAT1):c.144G>A (p.Leu48=)
|
rs776718349
|
0.00001
|
|
NM_152743.4(BRAT1):c.1498+19G>A
|
rs774567258
|
0.00001
|
|
NM_152743.4(BRAT1):c.1498+20G>A
|
rs1164385046
|
0.00001
|
|
NM_152743.4(BRAT1):c.1498+9G>T
|
rs1778999928
|
0.00001
|
|
NM_152743.4(BRAT1):c.1499-20C>G
|
rs758085579
|
0.00001
|
|
NM_152743.4(BRAT1):c.1533C>T (p.His511=)
|
rs1284958026
|
0.00001
|
|
NM_152743.4(BRAT1):c.1563C>T (p.Leu521=)
|
rs747583240
|
0.00001
|
|
NM_152743.4(BRAT1):c.1638G>A (p.Val546=)
|
rs755145624
|
0.00001
|
|
NM_152743.4(BRAT1):c.163C>T (p.Leu55=)
|
rs1408897985
|
0.00001
|
|
NM_152743.4(BRAT1):c.1704C>T (p.Ala568=)
|
rs756368991
|
0.00001
|
|
NM_152743.4(BRAT1):c.1771-10T>C
|
rs1341799503
|
0.00001
|
|
NM_152743.4(BRAT1):c.1771-7C>A
|
rs903491648
|
0.00001
|
|
NM_152743.4(BRAT1):c.1779C>T (p.Phe593=)
|
rs773345466
|
0.00001
|
|
NM_152743.4(BRAT1):c.1818C>T (p.Gly606=)
|
rs760731936
|
0.00001
|
|
NM_152743.4(BRAT1):c.1824A>G (p.Pro608=)
|
rs767575548
|
0.00001
|
|
NM_152743.4(BRAT1):c.186G>A (p.Val62=)
|
rs754650421
|
0.00001
|
|
NM_152743.4(BRAT1):c.1872C>T (p.His624=)
|
rs916113390
|
0.00001
|
|
NM_152743.4(BRAT1):c.1881G>A (p.Ala627=)
|
rs761970275
|
0.00001
|
|
NM_152743.4(BRAT1):c.1893G>A (p.Thr631=)
|
rs775940127
|
0.00001
|
|
NM_152743.4(BRAT1):c.1896G>A (p.Glu632=)
|
rs1322522470
|
0.00001
|
|
NM_152743.4(BRAT1):c.1917G>A (p.Leu639=)
|
rs369737188
|
0.00001
|
|
NM_152743.4(BRAT1):c.1926G>A (p.Ala642=)
|
rs778770405
|
0.00001
|
|
NM_152743.4(BRAT1):c.1968G>A (p.Glu656=)
|
rs1179214588
|
0.00001
|
|
NM_152743.4(BRAT1):c.1977C>T (p.Leu659=)
|
rs748335252
|
0.00001
|
|
NM_152743.4(BRAT1):c.2006C>T (p.Pro669Leu)
|
rs570576002
|
0.00001
|
|
NM_152743.4(BRAT1):c.2007G>A (p.Pro669=)
|
rs372436637
|
0.00001
|
|
NM_152743.4(BRAT1):c.2028C>T (p.Ala676=)
|
rs376186402
|
0.00001
|
|
NM_152743.4(BRAT1):c.2133C>T (p.Cys711=)
|
rs149690979
|
0.00001
|
|
NM_152743.4(BRAT1):c.2184C>T (p.Asp728=)
|
rs752390091
|
0.00001
|
|
NM_152743.4(BRAT1):c.2355G>A (p.Arg785=)
|
rs1273270576
|
0.00001
|
|
NM_152743.4(BRAT1):c.2367C>T (p.Ala789=)
|
rs200892967
|
0.00001
|
|
NM_152743.4(BRAT1):c.2382C>T (p.His794=)
|
rs753289498
|
0.00001
|
|
NM_152743.4(BRAT1):c.2442G>A (p.Gln814=)
|
rs1273506088
|
0.00001
|
|
NM_152743.4(BRAT1):c.2457C>T (p.Asp819=)
|
rs1778816926
|
0.00001
|
|
NM_152743.4(BRAT1):c.306C>G (p.Leu102=)
|
rs780957703
|
0.00001
|
|
NM_152743.4(BRAT1):c.345C>T (p.Ala115=)
|
rs200605265
|
0.00001
|
|
NM_152743.4(BRAT1):c.423C>T (p.Ala141=)
|
rs1018597194
|
0.00001
|
|
NM_152743.4(BRAT1):c.435G>A (p.Ala145=)
|
rs1017841215
|
0.00001
|
|
NM_152743.4(BRAT1):c.438C>T (p.Val146=)
|
rs1045444980
|
0.00001
|
|
NM_152743.4(BRAT1):c.489G>A (p.Ala163=)
|
rs533766344
|
0.00001
|
|
NM_152743.4(BRAT1):c.540C>T (p.Ala180=)
|
rs752912117
|
0.00001
|
|
NM_152743.4(BRAT1):c.603C>T (p.His201=)
|
rs529393784
|
0.00001
|
|
NM_152743.4(BRAT1):c.624C>T (p.Ser208=)
|
rs369792998
|
0.00001
|
|
NM_152743.4(BRAT1):c.66G>A (p.Pro22=)
|
rs764648033
|
0.00001
|
|
NM_152743.4(BRAT1):c.765C>T (p.Ala255=)
|
rs370715572
|
0.00001
|
|
NM_152743.4(BRAT1):c.804-19C>T
|
rs773312644
|
0.00001
|
|
NM_152743.4(BRAT1):c.804-8C>T
|
rs1451049163
|
0.00001
|
|
NM_152743.4(BRAT1):c.876C>T (p.Pro292=)
|
rs113279845
|
0.00001
|
|
NM_152743.4(BRAT1):c.882C>T (p.His294=)
|
rs1435242155
|
0.00001
|
|
NM_152743.4(BRAT1):c.923+12G>A
|
rs909238271
|
0.00001
|
|
NM_152743.4(BRAT1):c.924-12G>A
|
rs1554295199
|
0.00001
|
|
NM_152743.4(BRAT1):c.93G>A (p.Lys31=)
|
rs752247269
|
0.00001
|
|
NM_152743.4(BRAT1):c.948C>T (p.Ala316=)
|
rs753163636
|
0.00001
|
|
NM_172107.4(KCNQ2):c.1002C>T (p.Asn334=)
|
rs372442974
|
0.00001
|
|
NM_172107.4(KCNQ2):c.1005G>A (p.Pro335=)
|
rs760143489
|
0.00001
|
|
NM_172107.4(KCNQ2):c.1041C>T (p.Tyr347=)
|
rs770904422
|
0.00001
|
|
NM_172107.4(KCNQ2):c.1098G>A (p.Thr366=)
|
rs758961686
|
0.00001
|
|
NM_172107.4(KCNQ2):c.1104C>T (p.Thr368=)
|
rs1292482268
|
0.00001
|
|
NM_172107.4(KCNQ2):c.1119-19G>A
|
rs1428713160
|
0.00001
|
|
NM_172107.4(KCNQ2):c.1119-6T>C
|
rs1022260777
|
0.00001
|
|
NM_172107.4(KCNQ2):c.1119-7T>C
|
rs953495853
|
0.00001
|
|
NM_172107.4(KCNQ2):c.1194G>A (p.Lys398=)
|
rs763988707
|
0.00001
|
|
NM_172107.4(KCNQ2):c.1203T>C (p.Ser401=)
|
rs756007198
|
0.00001
|
|
NM_172107.4(KCNQ2):c.1209C>T (p.Leu403=)
|
rs752280961
|
0.00001
|
|
NM_172107.4(KCNQ2):c.1218-13C>T
|
rs1177200397
|
0.00001
|
|
NM_172107.4(KCNQ2):c.1218-18T>G
|
rs908502131
|
0.00001
|
|
NM_172107.4(KCNQ2):c.1230G>A (p.Pro410=)
|
rs767038163
|
0.00001
|
|
NM_172107.4(KCNQ2):c.1232C>T (p.Pro411Leu)
|
rs754682495
|
0.00001
|
|
NM_172107.4(KCNQ2):c.1248-14C>T
|
rs567439188
|
0.00001
|
|
NM_172107.4(KCNQ2):c.1248-4C>G
|
rs772465626
|
0.00001
|
|
NM_172107.4(KCNQ2):c.1270C>T (p.Pro424Ser)
|
rs748120886
|
0.00001
|
|
NM_172107.4(KCNQ2):c.1290C>T (p.Pro430=)
|
rs951436020
|
0.00001
|
|
NM_172107.4(KCNQ2):c.1368G>A (p.Gly456=)
|
rs748785128
|
0.00001
|
|
NM_172107.4(KCNQ2):c.1413G>A (p.Gln471=)
|
rs6122117
|
0.00001
|
|
NM_172107.4(KCNQ2):c.1506G>A (p.Ala502=)
|
rs780293757
|
0.00001
|
|
NM_172107.4(KCNQ2):c.1512G>A (p.Arg504=)
|
rs750635636
|
0.00001
|
|
NM_172107.4(KCNQ2):c.1526-20G>A
|
rs756285814
|
0.00001
|
|
NM_172107.4(KCNQ2):c.1526-6C>T
|
rs763503121
|
0.00001
|
|
NM_172107.4(KCNQ2):c.1631+18C>T
|
rs773276077
|
0.00001
|
|
NM_172107.4(KCNQ2):c.1631+8C>T
|
rs1406473226
|
0.00001
|
|
NM_172107.4(KCNQ2):c.1632-7C>T
|
rs779543926
|
0.00001
|
|
NM_172107.4(KCNQ2):c.1644C>T (p.Phe548=)
|
rs1241388377
|
0.00001
|
|
NM_172107.4(KCNQ2):c.1763+20G>A
|
rs774318503
|
0.00001
|
|
NM_172107.4(KCNQ2):c.1800G>A (p.Thr600=)
|
rs587780368
|
0.00001
|
|
NM_172107.4(KCNQ2):c.1887+13G>A
|
rs1013321077
|
0.00001
|
|
NM_172107.4(KCNQ2):c.1888-18C>T
|
rs745600966
|
0.00001
|
|
NM_172107.4(KCNQ2):c.1908G>A (p.Lys636=)
|
rs1319833450
|
0.00001
|
|
NM_172107.4(KCNQ2):c.1917C>T (p.Phe639=)
|
rs1568862506
|
0.00001
|
|
NM_172107.4(KCNQ2):c.1929C>T (p.Ile643=)
|
rs760044575
|
0.00001
|
|
NM_172107.4(KCNQ2):c.1956G>A (p.Pro652=)
|
rs749070370
|
0.00001
|
|
NM_172107.4(KCNQ2):c.1959A>G (p.Thr653=)
|
rs563758575
|
0.00001
|
|
NM_172107.4(KCNQ2):c.1977T>C (p.Phe659=)
|
rs530636866
|
0.00001
|
|
NM_172107.4(KCNQ2):c.2019G>A (p.Pro673=)
|
rs769646940
|
0.00001
|
|
NM_172107.4(KCNQ2):c.204C>A (p.Pro68=)
|
rs750320231
|
0.00001
|
|
NM_172107.4(KCNQ2):c.2052C>T (p.Gly684=)
|
rs764444302
|
0.00001
|
|
NM_172107.4(KCNQ2):c.2109G>A (p.Ala703=)
|
rs771679143
|
0.00001
|
|
NM_172107.4(KCNQ2):c.2115G>A (p.Pro705=)
|
rs754279476
|
0.00001
|
|
NM_172107.4(KCNQ2):c.2118C>T (p.Ala706=)
|
rs777993694
|
0.00001
|
|
NM_172107.4(KCNQ2):c.2133G>A (p.Gln711=)
|
rs946287354
|
0.00001
|
|
NM_172107.4(KCNQ2):c.2139G>A (p.Pro713=)
|
rs765186960
|
0.00001
|
|
NM_172107.4(KCNQ2):c.2172G>A (p.Pro724=)
|
rs368268958
|
0.00001
|
|
NM_172107.4(KCNQ2):c.2184C>T (p.His728=)
|
rs745409657
|
0.00001
|
|
NM_172107.4(KCNQ2):c.2229G>A (p.Pro743=)
|
rs1481212168
|
0.00001
|
|
NM_172107.4(KCNQ2):c.222C>T (p.Tyr74=)
|
rs796052613
|
0.00001
|
|
NM_172107.4(KCNQ2):c.2232G>A (p.Pro744=)
|
rs547655324
|
0.00001
|
|
NM_172107.4(KCNQ2):c.225C>G (p.Arg75=)
|
rs2082234438
|
0.00001
|
|
NM_172107.4(KCNQ2):c.2280C>T (p.Arg760=)
|
rs753696924
|
0.00001
|
|
NM_172107.4(KCNQ2):c.2298G>C (p.Leu766=)
|
rs370078678
|
0.00001
|
|
NM_172107.4(KCNQ2):c.2331C>T (p.Pro777=)
|
rs903555499
|
0.00001
|
|
NM_172107.4(KCNQ2):c.2352C>T (p.Ser784=)
|
rs752646626
|
0.00001
|
|
NM_172107.4(KCNQ2):c.2358G>A (p.Thr786=)
|
rs559610397
|
0.00001
|
|
NM_172107.4(KCNQ2):c.2376C>T (p.Ser792=)
|
rs765593192
|
0.00001
|
|
NM_172107.4(KCNQ2):c.240C>T (p.Phe80=)
|
rs961712229
|
0.00001
|
|
NM_172107.4(KCNQ2):c.2421C>T (p.Ile807=)
|
rs779048131
|
0.00001
|
|
NM_172107.4(KCNQ2):c.2463C>T (p.Tyr821=)
|
rs781323405
|
0.00001
|
|
NM_172107.4(KCNQ2):c.2466G>A (p.Ala822=)
|
rs779798310
|
0.00001
|
|
NM_172107.4(KCNQ2):c.246C>T (p.Tyr82=)
|
rs2082233877
|
0.00001
|
|
NM_172107.4(KCNQ2):c.249C>T (p.Asn83=)
|
rs1568986197
|
0.00001
|
|
NM_172107.4(KCNQ2):c.2565G>A (p.Ser855=)
|
rs951286775
|
0.00001
|
|
NM_172107.4(KCNQ2):c.297-19G>A
|
rs755735309
|
0.00001
|
|
NM_172107.4(KCNQ2):c.321C>T (p.Leu107=)
|
rs757187562
|
0.00001
|
|
NM_172107.4(KCNQ2):c.348G>A (p.Lys116=)
|
rs199860378
|
0.00001
|
|
NM_172107.4(KCNQ2):c.385C>T (p.Leu129=)
|
rs1381622639
|
0.00001
|
|
NM_172107.4(KCNQ2):c.387+10G>A
|
rs371918220
|
0.00001
|
|
NM_172107.4(KCNQ2):c.387+9C>T
|
rs751969586
|
0.00001
|
|
NM_172107.4(KCNQ2):c.414C>T (p.Gly138=)
|
rs762713462
|
0.00001
|
|
NM_172107.4(KCNQ2):c.417G>A (p.Val139=)
|
rs769767997
|
0.00001
|
|
NM_172107.4(KCNQ2):c.444A>G (p.Ala148=)
|
rs1365973227
|
0.00001
|
|
NM_172107.4(KCNQ2):c.514+19G>A
|
rs143112890
|
0.00001
|
|
NM_172107.4(KCNQ2):c.515-13G>A
|
rs752770712
|
0.00001
|
|
NM_172107.4(KCNQ2):c.515-15A>G
|
rs778229459
|
0.00001
|
|
NM_172107.4(KCNQ2):c.588G>A (p.Ala196=)
|
rs771376349
|
0.00001
|
|
NM_172107.4(KCNQ2):c.607C>T (p.Leu203=)
|
rs1057522309
|
0.00001
|
|
NM_172107.4(KCNQ2):c.642G>A (p.Arg214=)
|
rs778319589
|
0.00001
|
|
NM_172107.4(KCNQ2):c.651C>T (p.Thr217=)
|
rs1386799944
|
0.00001
|
|
NM_172107.4(KCNQ2):c.684C>T (p.His228=)
|
rs118192204
|
0.00001
|
|
NM_172107.4(KCNQ2):c.729C>T (p.Leu243=)
|
rs755940771
|
0.00001
|
|
NM_172107.4(KCNQ2):c.741G>A (p.Ser247=)
|
rs184792288
|
0.00001
|
|
NM_172107.4(KCNQ2):c.759A>T (p.Ala253=)
|
rs1169384661
|
0.00001
|
|
NM_172107.4(KCNQ2):c.78G>A (p.Gly26=)
|
rs772452810
|
0.00001
|
|
NM_172107.4(KCNQ2):c.816+11G>A
|
rs779253290
|
0.00001
|
|
NM_172107.4(KCNQ2):c.816+9T>C
|
rs772235691
|
0.00001
|
|
NM_172107.4(KCNQ2):c.817-11C>T
|
rs555632610
|
0.00001
|
|
NM_172107.4(KCNQ2):c.817-5C>T
|
rs774780027
|
0.00001
|
|
NM_172107.4(KCNQ2):c.819C>T (p.Ile273=)
|
rs771282785
|
0.00001
|
|
NM_172107.4(KCNQ2):c.822G>A (p.Thr274=)
|
rs377485599
|
0.00001
|
|
NM_172107.4(KCNQ2):c.915C>T (p.Phe305=)
|
rs775918190
|
0.00001
|
|
NM_172107.4(KCNQ2):c.921G>A (p.Leu307=)
|
rs539406802
|
0.00001
|
|
NM_172107.4(KCNQ2):c.928-16C>T
|
rs112907728
|
0.00001
|
|
NM_173354.5(SIK1):c.114C>T (p.Phe38=)
|
rs1359524179
|
0.00001
|
|
NM_173354.5(SIK1):c.1173G>A (p.Pro391=)
|
rs751767557
|
0.00001
|
|
NM_173354.5(SIK1):c.1200C>T (p.Val400=)
|
rs1417285211
|
0.00001
|
|
NM_173354.5(SIK1):c.1236G>A (p.Ser412=)
|
rs374850060
|
0.00001
|
|
NM_173354.5(SIK1):c.1355C>T (p.Pro452Leu)
|
rs1451348781
|
0.00001
|
|
NM_173354.5(SIK1):c.1395C>T (p.Pro465=)
|
rs1260406479
|
0.00001
|
|
NM_173354.5(SIK1):c.1518C>T (p.Asp506=)
|
rs151161967
|
0.00001
|
|
NM_173354.5(SIK1):c.1551C>T (p.Pro517=)
|
rs774252516
|
0.00001
|
|
NM_173354.5(SIK1):c.1620G>A (p.Ser540=)
|
rs746537219
|
0.00001
|
|
NM_173354.5(SIK1):c.1722G>A (p.Ala574=)
|
rs756498556
|
0.00001
|
|
NM_173354.5(SIK1):c.2139C>T (p.Leu713=)
|
rs1250236920
|
0.00001
|
|
NM_173354.5(SIK1):c.2202T>C (p.Ile734=)
|
rs368699653
|
0.00001
|
|
NM_173354.5(SIK1):c.345G>A (p.Leu115=)
|
rs775279592
|
0.00001
|
|
NM_173354.5(SIK1):c.354C>T (p.Asn118=)
|
rs769373966
|
0.00001
|
|
NM_173354.5(SIK1):c.372C>T (p.Asn124=)
|
rs776158971
|
0.00001
|
|
NM_173354.5(SIK1):c.396A>G (p.Gln132=)
|
rs139121264
|
0.00001
|
|
NM_173354.5(SIK1):c.405G>A (p.Ser135=)
|
rs756318531
|
0.00001
|
|
NM_173354.5(SIK1):c.423C>T (p.His141=)
|
rs757318904
|
0.00001
|
|
NM_173354.5(SIK1):c.500-18T>G
|
rs544724581
|
0.00001
|
|
NM_173354.5(SIK1):c.624+13T>C
|
rs374653662
|
0.00001
|
|
NM_173354.5(SIK1):c.625-5A>G
|
rs751277878
|
0.00001
|
|
NM_173354.5(SIK1):c.627C>T (p.Ser209=)
|
rs200883333
|
0.00001
|
|
NM_173354.5(SIK1):c.672C>T (p.Phe224=)
|
rs774674384
|
0.00001
|
|
NM_173728.4(ARHGEF15):c.1048+9C>G
|
rs1460173209
|
0.00001
|
|
NM_173728.4(ARHGEF15):c.1049-20G>A
|
rs767643392
|
0.00001
|
|
NM_173728.4(ARHGEF15):c.1209A>G (p.Gln403=)
|
rs760719728
|
0.00001
|
|
NM_173728.4(ARHGEF15):c.1422-9T>A
|
rs749293171
|
0.00001
|
|
NM_173728.4(ARHGEF15):c.1641C>G (p.Leu547=)
|
rs1012657671
|
0.00001
|
|
NM_173728.4(ARHGEF15):c.1704+15T>C
|
rs569102838
|
0.00001
|
|
NM_173728.4(ARHGEF15):c.1711C>T (p.Leu571=)
|
rs751706310
|
0.00001
|
|
NM_173728.4(ARHGEF15):c.1716C>T (p.Arg572=)
|
rs775581443
|
0.00001
|
|
NM_173728.4(ARHGEF15):c.1873-4G>A
|
rs755612208
|
0.00001
|
|
NM_173728.4(ARHGEF15):c.1900C>T (p.Arg634Cys)
|
rs567896801
|
0.00001
|
|
NM_173728.4(ARHGEF15):c.2022T>G (p.Thr674=)
|
rs761280960
|
0.00001
|
|
NM_173728.4(ARHGEF15):c.2070C>T (p.Arg690=)
|
rs1215167202
|
0.00001
|
|
NM_173728.4(ARHGEF15):c.2370T>C (p.Pro790=)
|
rs1010654697
|
0.00001
|
|
NM_173728.4(ARHGEF15):c.2375-14C>T
|
rs1452269966
|
0.00001
|
|
NM_173728.4(ARHGEF15):c.2505C>T (p.Thr835=)
|
rs907308477
|
0.00001
|
|
NM_173728.4(ARHGEF15):c.294C>T (p.Pro98=)
|
rs781063555
|
0.00001
|
|
NM_173728.4(ARHGEF15):c.36C>G (p.Pro12=)
|
rs748986833
|
0.00001
|
|
NM_173728.4(ARHGEF15):c.601+16G>T
|
rs761415894
|
0.00001
|
|
NM_173728.4(ARHGEF15):c.602-17C>T
|
rs751895919
|
0.00001
|
|
NM_173728.4(ARHGEF15):c.934+12G>C
|
rs748426242
|
0.00001
|
|
NM_173728.4(ARHGEF15):c.990-16C>T
|
rs368655131
|
0.00001
|
|
NM_177550.5(SLC13A5):c.1017C>T (p.Pro339=)
|
rs200365614
|
0.00001
|
|
NM_177550.5(SLC13A5):c.102+8G>C
|
rs765725969
|
0.00001
|
|
NM_177550.5(SLC13A5):c.1065C>T (p.Ser355=)
|
rs140940366
|
0.00001
|
|
NM_177550.5(SLC13A5):c.1125C>T (p.Pro375=)
|
rs1483419923
|
0.00001
|
|
NM_177550.5(SLC13A5):c.1156+15C>G
|
rs367721453
|
0.00001
|
|
NM_177550.5(SLC13A5):c.1188G>A (p.Leu396=)
|
rs570830621
|
0.00001
|
|
NM_177550.5(SLC13A5):c.1221C>T (p.Pro407=)
|
rs547474199
|
0.00001
|
|
NM_177550.5(SLC13A5):c.1240C>T (p.Leu414=)
|
rs1206208725
|
0.00001
|
|
NM_177550.5(SLC13A5):c.1272C>T (p.Ser424=)
|
rs368030315
|
0.00001
|
|
NM_177550.5(SLC13A5):c.1276-17C>T
|
rs1973392872
|
0.00001
|
|
NM_177550.5(SLC13A5):c.1318T>C (p.Leu440=)
|
rs1341974633
|
0.00001
|
|
NM_177550.5(SLC13A5):c.1323C>T (p.His441=)
|
rs368369308
|
0.00001
|
|
NM_177550.5(SLC13A5):c.132C>T (p.Leu44=)
|
rs1258344040
|
0.00001
|
|
NM_177550.5(SLC13A5):c.1407C>A (p.Thr469=)
|
rs1488808458
|
0.00001
|
|
NM_177550.5(SLC13A5):c.1438-18del
|
rs759057646
|
0.00001
|
|
NM_177550.5(SLC13A5):c.1438-5C>T
|
rs368120301
|
0.00001
|
|
NM_177550.5(SLC13A5):c.1530A>G (p.Pro510=)
|
rs762703163
|
0.00001
|
|
NM_177550.5(SLC13A5):c.1575+10C>A
|
rs576242281
|
0.00001
|
|
NM_177550.5(SLC13A5):c.1575+12G>A
|
rs748598074
|
0.00001
|
|
NM_177550.5(SLC13A5):c.1629T>C (p.Ala543=)
|
rs766561824
|
0.00001
|
|
NM_177550.5(SLC13A5):c.1689G>A (p.Val563=)
|
rs1567612268
|
0.00001
|
|
NM_177550.5(SLC13A5):c.276C>T (p.Gly92=)
|
rs771703938
|
0.00001
|
|
NM_177550.5(SLC13A5):c.279C>G (p.Gly93=)
|
rs1253377106
|
0.00001
|
|
NM_177550.5(SLC13A5):c.327C>T (p.Ile109=)
|
rs761010502
|
0.00001
|
|
NM_177550.5(SLC13A5):c.369-13C>T
|
rs1387018006
|
0.00001
|
|
NM_177550.5(SLC13A5):c.369-9C>A
|
rs1301686731
|
0.00001
|
|
NM_177550.5(SLC13A5):c.453C>T (p.Ile151=)
|
rs144523287
|
0.00001
|
|
NM_177550.5(SLC13A5):c.466T>C (p.Leu156=)
|
rs1284550674
|
0.00001
|
|
NM_177550.5(SLC13A5):c.516G>A (p.Leu172=)
|
rs1164489091
|
0.00001
|
|
NM_177550.5(SLC13A5):c.547+15A>G
|
rs200767134
|
0.00001
|
|
NM_177550.5(SLC13A5):c.555A>G (p.Gln185=)
|
rs752221899
|
0.00001
|
|
NM_177550.5(SLC13A5):c.576T>C (p.Thr192=)
|
rs1274573548
|
0.00001
|
|
NM_177550.5(SLC13A5):c.645G>A (p.Ala215=)
|
rs771306101
|
0.00001
|
|
NM_177550.5(SLC13A5):c.699C>T (p.Leu233=)
|
rs200076864
|
0.00001
|
|
NM_177550.5(SLC13A5):c.69G>T (p.Leu23=)
|
rs1280438112
|
0.00001
|
|
NM_177550.5(SLC13A5):c.702G>C (p.Leu234=)
|
rs1353818031
|
0.00001
|
|
NM_177550.5(SLC13A5):c.717-6T>C
|
rs779832945
|
0.00001
|
|
NM_177550.5(SLC13A5):c.861C>T (p.Cys287=)
|
rs148018915
|
0.00001
|
|
NM_177550.5(SLC13A5):c.873C>T (p.Ser291=)
|
rs767067775
|
0.00001
|
|
NM_177550.5(SLC13A5):c.942C>T (p.Phe314=)
|
rs546617630
|
0.00001
|
|
NM_177550.5(SLC13A5):c.954C>T (p.Asn318=)
|
rs764495638
|
0.00001
|
|
NM_203446.2(SYNJ1):c.9G>A (p.Lys3=)
|
rs1250657533
|
0.00001
|
|
NM_203446.3(SYNJ1):c.*108A>G
|
rs371381727
|
0.00001
|
|
NM_203446.3(SYNJ1):c.*120G>A
|
rs377721268
|
0.00001
|
|
NM_203446.3(SYNJ1):c.*132C>A
|
rs373469623
|
0.00001
|
|
NM_203446.3(SYNJ1):c.*174G>A
|
rs745464855
|
0.00001
|
|
NM_203446.3(SYNJ1):c.*187T>C
|
rs748722673
|
0.00001
|
|
NM_203446.3(SYNJ1):c.*195T>G
|
rs1323976540
|
0.00001
|
|
NM_203446.3(SYNJ1):c.*21C>A
|
rs756737216
|
0.00001
|
|
NM_203446.3(SYNJ1):c.*270C>T
|
rs748033451
|
0.00001
|
|
NM_203446.3(SYNJ1):c.*390G>A
|
rs769253550
|
0.00001
|
|
NM_203446.3(SYNJ1):c.*393C>T
|
rs140696929
|
0.00001
|
|
NM_203446.3(SYNJ1):c.*513T>C
|
rs373455294
|
0.00001
|
|
NM_203446.3(SYNJ1):c.*519C>T
|
rs2039314679
|
0.00001
|
|
NM_203446.3(SYNJ1):c.*522G>A
|
rs777945782
|
0.00001
|
|
NM_203446.3(SYNJ1):c.*540C>T
|
rs141012977
|
0.00001
|
|
NM_203446.3(SYNJ1):c.*665C>G
|
rs150753892
|
0.00001
|
|
NM_203446.3(SYNJ1):c.*741C>T
|
rs1281984634
|
0.00001
|
|
NM_203446.3(SYNJ1):c.*75A>G
|
rs756090874
|
0.00001
|
|
NM_203446.3(SYNJ1):c.*798T>C
|
rs1007414965
|
0.00001
|
|
NM_203446.3(SYNJ1):c.-19T>A
|
rs1447119337
|
0.00001
|
|
NM_203446.3(SYNJ1):c.-23+19G>A
|
rs2043549128
|
0.00001
|
|
NM_203446.3(SYNJ1):c.-23+20G>A
|
rs1022879813
|
0.00001
|
|
NM_203446.3(SYNJ1):c.-37G>A
|
rs1297512201
|
0.00001
|
|
NM_203446.3(SYNJ1):c.-61C>T
|
rs932881262
|
0.00001
|
|
NM_203446.3(SYNJ1):c.1118+7C>T
|
rs752329632
|
0.00001
|
|
NM_203446.3(SYNJ1):c.1118+9G>A
|
rs1241098561
|
0.00001
|
|
NM_203446.3(SYNJ1):c.1167A>G (p.Arg389=)
|
rs747274485
|
0.00001
|
|
NM_203446.3(SYNJ1):c.1281A>G (p.Ser427=)
|
rs1256463338
|
0.00001
|
|
NM_203446.3(SYNJ1):c.1290C>T (p.Ser430=)
|
rs919941488
|
0.00001
|
|
NM_203446.3(SYNJ1):c.156A>G (p.Thr52=)
|
rs144728528
|
0.00001
|
|
NM_203446.3(SYNJ1):c.1641A>G (p.Gln547=)
|
rs753893833
|
0.00001
|
|
NM_203446.3(SYNJ1):c.1671A>G (p.Thr557=)
|
rs1461901564
|
0.00001
|
|
NM_203446.3(SYNJ1):c.177A>G (p.Ala59=)
|
rs749212329
|
0.00001
|
|
NM_203446.3(SYNJ1):c.1824G>A (p.Gln608=)
|
rs371628726
|
0.00001
|
|
NM_203446.3(SYNJ1):c.1848G>A (p.Gln616=)
|
rs1601348530
|
0.00001
|
|
NM_203446.3(SYNJ1):c.2146-14C>G
|
rs775638018
|
0.00001
|
|
NM_203446.3(SYNJ1):c.2202A>C (p.Arg734=)
|
rs924156740
|
0.00001
|
|
NM_203446.3(SYNJ1):c.2223A>G (p.Glu741=)
|
rs2040867289
|
0.00001
|
|
NM_203446.3(SYNJ1):c.2295T>C (p.Asn765=)
|
rs142455194
|
0.00001
|
|
NM_203446.3(SYNJ1):c.2304+9A>G
|
rs1569062470
|
0.00001
|
|
NM_203446.3(SYNJ1):c.2403C>T (p.Thr801=)
|
rs755696516
|
0.00001
|
|
NM_203446.3(SYNJ1):c.2795+7T>C
|
rs780616248
|
0.00001
|
|
NM_203446.3(SYNJ1):c.2860C>T (p.Leu954=)
|
rs374794895
|
0.00001
|
|
NM_203446.3(SYNJ1):c.2875-20T>C
|
rs187333014
|
0.00001
|
|
NM_203446.3(SYNJ1):c.2875-4C>A
|
rs1231504349
|
0.00001
|
|
NM_203446.3(SYNJ1):c.2875-6C>T
|
rs183558612
|
0.00001
|
|
NM_203446.3(SYNJ1):c.303T>C (p.Thr101=)
|
rs1445704945
|
0.00001
|
|
NM_203446.3(SYNJ1):c.3195C>T (p.Pro1065=)
|
rs763564076
|
0.00001
|
|
NM_203446.3(SYNJ1):c.3270A>G (p.Pro1090=)
|
rs1299635688
|
0.00001
|
|
NM_203446.3(SYNJ1):c.3273A>C (p.Ala1091=)
|
rs1282370368
|
0.00001
|
|
NM_203446.3(SYNJ1):c.3324G>A (p.Pro1108=)
|
rs757804939
|
0.00001
|
|
NM_203446.3(SYNJ1):c.3333C>G (p.Pro1111=)
|
rs372510070
|
0.00001
|
|
NM_203446.3(SYNJ1):c.3391+15T>A
|
rs754412906
|
0.00001
|
|
NM_203446.3(SYNJ1):c.3430+12C>T
|
rs1468489631
|
0.00001
|
|
NM_203446.3(SYNJ1):c.3431-10C>T
|
rs774777679
|
0.00001
|
|
NM_203446.3(SYNJ1):c.3517+10C>T
|
rs1373208718
|
0.00001
|
|
NM_203446.3(SYNJ1):c.3518-17T>C
|
rs773319067
|
0.00001
|
|
NM_203446.3(SYNJ1):c.351A>G (p.Ser117=)
|
rs144142216
|
0.00001
|
|
NM_203446.3(SYNJ1):c.3588+15G>A
|
rs540863552
|
0.00001
|
|
NM_203446.3(SYNJ1):c.3635C>T (p.Ala1212Val)
|
rs386352368
|
0.00001
|
|
NM_203446.3(SYNJ1):c.3639G>A (p.Arg1213=)
|
rs745882722
|
0.00001
|
|
NM_203446.3(SYNJ1):c.3765G>A (p.Pro1255=)
|
rs781500048
|
0.00001
|
|
NM_203446.3(SYNJ1):c.3786G>A (p.Glu1262=)
|
rs750931400
|
0.00001
|
|
NM_203446.3(SYNJ1):c.3840G>A (p.Leu1280=)
|
rs2039703499
|
0.00001
|
|
NM_203446.3(SYNJ1):c.3915+10A>G
|
rs1167944043
|
0.00001
|
|
NM_203446.3(SYNJ1):c.480-7C>T
|
rs748707134
|
0.00001
|
|
NM_203446.3(SYNJ1):c.706-7T>C
|
rs1482528429
|
0.00001
|
|
NM_203446.3(SYNJ1):c.706-8T>C
|
rs752261171
|
0.00001
|
|
NM_203446.3(SYNJ1):c.711G>A (p.Val237=)
|
rs780954414
|
0.00001
|
|
NM_203446.3(SYNJ1):c.747C>T (p.Ile249=)
|
rs766187063
|
0.00001
|
|
NM_203446.3(SYNJ1):c.790-18A>G
|
rs764219821
|
0.00001
|
|
NM_203446.3(SYNJ1):c.834T>C (p.Asn278=)
|
rs776217239
|
0.00001
|
|
NM_203446.3(SYNJ1):c.843T>C (p.Ala281=)
|
rs372016074
|
0.00001
|
|
NM_203446.3(SYNJ1):c.851+20G>C
|
rs778826127
|
0.00001
|
|
NM_203446.3(SYNJ1):c.873C>T (p.Asn291=)
|
rs1326451805
|
0.00001
|
|
NM_203446.3(SYNJ1):c.93C>G (p.Leu31=)
|
rs201322530
|
0.00001
|
|
NM_203446.3(SYNJ1):c.948+7A>G
|
rs777999783
|
0.00001
|
|
NM_203446.3(SYNJ1):c.981T>C (p.Asp327=)
|
rs759120326
|
0.00001
|
|
NC_000002.11:g.(?_166847793)_(166847921_?)dup
|
|
|
|
NC_000005.9:g.(?_45645267)_(45696195_?)dup
|
|
|
|
NC_000005.9:g.(?_45645277)_(45696195_?)dup
|
|
|
|
NC_000005.9:g.(?_45695751)_(45696195_?)dup
|
|
|
|
NC_000009.11:g.(?_130438063)_(130446756_?)dup
|
|
|
|
NC_000009.11:g.(?_131386587)_(131399326_?)dup
|
|
|
|
NC_000009.11:g.(?_131386597)_(131399316_?)dup
|
|
|
|
NC_000009.11:g.(?_138606413)_(138606576_?)del
|
|
|
|
NC_000009.12:g.(?_127668060)_(127684497_?)dup
|
|
|
|
NC_000009.12:g.109167265C>T
|
rs758838412
|
|
|
NC_000009.12:g.109167279T>G
|
rs943215649
|
|
|
NC_000017.11:g.6702964ACTC[3]
|
|
|
|
NC_000020.10:g.62046496_62046497insGACAAACA
|
|
|
|
NM_000330.4(RS1):c.184+3117C>T
|
|
|
|
NM_000330.4(RS1):c.184+3145C>G
|
|
|
|
NM_000330.4(RS1):c.184+3151C>G
|
|
|
|
NM_000330.4(RS1):c.184+3158_184+3167del
|
rs1363899499
|
|
|
NM_000330.4(RS1):c.184+3201G>C
|
rs376960593
|
|
|
NM_000330.4(RS1):c.184+3232C>G
|
|
|
|
NM_000330.4(RS1):c.185-3058C>A
|
rs980932278
|
|
|
NM_000330.4(RS1):c.185-3074G>A
|
|
|
|
NM_000330.4(RS1):c.185-3103T>C
|
|
|
|
NM_000330.4(RS1):c.185-3124G>A
|
rs1602315522
|
|
|
NM_000330.4(RS1):c.185-3125C>T
|
|
|
|
NM_000330.4(RS1):c.185-3129G>A
|
rs2147197730
|
|
|
NM_000330.4(RS1):c.185-3157G>A
|
|
|
|
NM_000330.4(RS1):c.185-3221G>A
|
rs374054249
|
|
|
NM_000330.4(RS1):c.326+1084C>T
|
rs1927762103
|
|
|
NM_000330.4(RS1):c.326+1093_326+1094del
|
rs1555957573
|
|
|
NM_000330.4(RS1):c.326+1105T>C
|
|
|
|
NM_000330.4(RS1):c.326+1193T>C
|
|
|
|
NM_000834.5(GRIN2B):c.1010+10G>T
|
rs1435186399
|
|
|
NM_000834.5(GRIN2B):c.1010+20C>T
|
rs201837767
|
|
|
NM_000834.5(GRIN2B):c.1011-10A>T
|
rs200245117
|
|
|
NM_000834.5(GRIN2B):c.1011-15A>G
|
|
|
|
NM_000834.5(GRIN2B):c.1011-18T>G
|
|
|
|
NM_000834.5(GRIN2B):c.1011-20C>A
|
|
|
|
NM_000834.5(GRIN2B):c.1011-20C>T
|
|
|
|
NM_000834.5(GRIN2B):c.1038G>A (p.Gly346=)
|
rs753955843
|
|
|
NM_000834.5(GRIN2B):c.1047G>A (p.Leu349=)
|
|
|
|
NM_000834.5(GRIN2B):c.1053C>T (p.Phe351=)
|
|
|
|
NM_000834.5(GRIN2B):c.1080G>T (p.Pro360=)
|
rs201952040
|
|
|
NM_000834.5(GRIN2B):c.1086G>C (p.Leu362=)
|
rs1950068460
|
|
|
NM_000834.5(GRIN2B):c.1125+12C>T
|
|
|
|
NM_000834.5(GRIN2B):c.1125+6_1125+10dup
|
rs760029228
|
|
|
NM_000834.5(GRIN2B):c.1126-16G>A
|
rs2136481549
|
|
|
NM_000834.5(GRIN2B):c.1126-16G>C
|
|
|
|
NM_000834.5(GRIN2B):c.1126-20T>C
|
rs752524243
|
|
|
NM_000834.5(GRIN2B):c.1126-7del
|
rs774388082
|
|
|
NM_000834.5(GRIN2B):c.1126G>A (p.Val376Met)
|
|
|
|
NM_000834.5(GRIN2B):c.1128G>A (p.Val376=)
|
|
|
|
NM_000834.5(GRIN2B):c.1143C>T (p.Asp381=)
|
|
|
|
NM_000834.5(GRIN2B):c.1167T>C (p.Tyr389=)
|
rs2136481440
|
|
|
NM_000834.5(GRIN2B):c.123C>T (p.Leu41=)
|
rs2136747318
|
|
|
NM_000834.5(GRIN2B):c.1245A>G (p.Pro415=)
|
|
|
|
NM_000834.5(GRIN2B):c.1266G>A (p.Val422=)
|
|
|
|
NM_000834.5(GRIN2B):c.1308C>T (p.Cys436=)
|
rs992479287
|
|
|
NM_000834.5(GRIN2B):c.1320A>T (p.Ile440=)
|
rs753284709
|
|
|
NM_000834.5(GRIN2B):c.1328+10C>T
|
rs765922947
|
|
|
NM_000834.5(GRIN2B):c.1328+11C>T
|
|
|
|
NM_000834.5(GRIN2B):c.1329-15T>A
|
|
|
|
NM_000834.5(GRIN2B):c.1329-15T>C
|
|
|
|
NM_000834.5(GRIN2B):c.1332T>C (p.Asn444=)
|
|
|
|
NM_000834.5(GRIN2B):c.1347G>A (p.Glu449=)
|
|
|
|
NM_000834.5(GRIN2B):c.1377G>C (p.Gly459=)
|
rs779734725
|
|
|
NM_000834.5(GRIN2B):c.1386T>C (p.Ile462=)
|
|
|
|
NM_000834.5(GRIN2B):c.1389C>T (p.Asp463=)
|
rs1272584608
|
|
|
NM_000834.5(GRIN2B):c.1401A>G (p.Lys467=)
|
|
|
|
NM_000834.5(GRIN2B):c.1479C>A (p.Thr493=)
|
rs202139349
|
|
|
NM_000834.5(GRIN2B):c.1500+10CA[4]
|
|
|
|
NM_000834.5(GRIN2B):c.1501-15G>A
|
|
|
|
NM_000834.5(GRIN2B):c.1536A>G (p.Ser512=)
|
|
|
|
NM_000834.5(GRIN2B):c.1539C>T (p.Leu513=)
|
rs369786199
|
|
|
NM_000834.5(GRIN2B):c.153G>A (p.Lys51=)
|
rs1057522391
|
|
|
NM_000834.5(GRIN2B):c.1560G>C (p.Ser520=)
|
|
|
|
NM_000834.5(GRIN2B):c.1581G>A (p.Val527=)
|
rs2136479424
|
|
|
NM_000834.5(GRIN2B):c.1596A>C (p.Thr532=)
|
|
|
|
NM_000834.5(GRIN2B):c.1596A>G (p.Thr532=)
|
rs1253357396
|
|
|
NM_000834.5(GRIN2B):c.15G>T (p.Ala5=)
|
rs34315573
|
|
|
NM_000834.5(GRIN2B):c.1608C>T (p.Val536=)
|
|
|
|
NM_000834.5(GRIN2B):c.1629G>A (p.Gly543=)
|
rs199517784
|
|
|
NM_000834.5(GRIN2B):c.1654+15T>A
|
|
|
|
NM_000834.5(GRIN2B):c.1654+19G>C
|
|
|
|
NM_000834.5(GRIN2B):c.1654+19G>T
|
rs746677072
|
|
|
NM_000834.5(GRIN2B):c.1654+20G>T
|
rs1160819541
|
|
|
NM_000834.5(GRIN2B):c.1654+9T>C
|
|
|
|
NM_000834.5(GRIN2B):c.1655-14T>C
|
|
|
|
NM_000834.5(GRIN2B):c.1655-18C>T
|
rs2136474744
|
|
|
NM_000834.5(GRIN2B):c.1655-9C>A
|
|
|
|
NM_000834.5(GRIN2B):c.1659A>C (p.Pro553=)
|
|
|
|
NM_000834.5(GRIN2B):c.1674A>G (p.Val558=)
|
rs1949369008
|
|
|
NM_000834.5(GRIN2B):c.1701C>T (p.Leu567=)
|
|
|
|
NM_000834.5(GRIN2B):c.1739T>A (p.Phe580Tyr)
|
rs199801114
|
|
|
NM_000834.5(GRIN2B):c.174T>C (p.Asp58=)
|
rs1555149549
|
|
|
NM_000834.5(GRIN2B):c.1758C>T (p.Asn586=)
|
|
|
|
NM_000834.5(GRIN2B):c.1773T>C (p.Asp591=)
|
|
|
|
NM_000834.5(GRIN2B):c.1780+20C>G
|
|
|
|
NM_000834.5(GRIN2B):c.1780+8C>G
|
rs199986080
|
|
|
NM_000834.5(GRIN2B):c.1781-14T>G
|
|
|
|
NM_000834.5(GRIN2B):c.1786G>A (p.Gly596Ser)
|
|
|
|
NM_000834.5(GRIN2B):c.1797T>A (p.Ser599=)
|
rs2136470570
|
|
|
NM_000834.5(GRIN2B):c.180C>T (p.His60=)
|
|
|
|
NM_000834.5(GRIN2B):c.1824G>A (p.Leu608=)
|
rs1949321963
|
|
|
NM_000834.5(GRIN2B):c.1836G>A (p.Leu612=)
|
|
|
|
NM_000834.5(GRIN2B):c.1839G>C (p.Val613=)
|
|
|
|
NM_000834.5(GRIN2B):c.1866C>T (p.Asn622=)
|
rs1949321214
|
|
|
NM_000834.5(GRIN2B):c.1878C>A (p.Thr626=)
|
rs1555110827
|
|
|
NM_000834.5(GRIN2B):c.1896G>A (p.Val632=)
|
|
|
|
NM_000834.5(GRIN2B):c.1902G>A (p.Val634=)
|
rs2136470347
|
|
|
NM_000834.5(GRIN2B):c.1908C>T (p.Ala636=)
|
|
|
|
NM_000834.5(GRIN2B):c.1932C>G (p.Ala644=)
|
|
|
|
NM_000834.5(GRIN2B):c.1944C>T (p.Ala648=)
|
rs1591638714
|
|
|
NM_000834.5(GRIN2B):c.1965C>A (p.Ile655=)
|
|
|
|
NM_000834.5(GRIN2B):c.1998G>A (p.Leu666=)
|
rs1307827160
|
|
|
NM_000834.5(GRIN2B):c.199C>A (p.Arg67=)
|
|
|
|
NM_000834.5(GRIN2B):c.199C>T (p.Arg67Trp)
|
|
|
|
NM_000834.5(GRIN2B):c.2011-10C>T
|
|
|
|
NM_000834.5(GRIN2B):c.2011-11TC[2]
|
rs1043571496
|
|
|
NM_000834.5(GRIN2B):c.2011-11TC[3]
|
rs1043571496
|
|
|
NM_000834.5(GRIN2B):c.2011-20A>G
|
|
|
|
NM_000834.5(GRIN2B):c.2011-20_2011-11del
|
rs1381544753
|
|
|
NM_000834.5(GRIN2B):c.2011-20_2011-17del
|
rs751965360
|
|
|
NM_000834.5(GRIN2B):c.2011-20_2011-17dup
|
|
|
|
NM_000834.5(GRIN2B):c.2011-4C>T
|
rs1447482208
|
|
|
NM_000834.5(GRIN2B):c.2011-5T>C
|
rs2136416046
|
|
|
NM_000834.5(GRIN2B):c.2011-7T>C
|
|
|
|
NM_000834.5(GRIN2B):c.2040T>C (p.Pro680=)
|
rs1948713794
|
|
|
NM_000834.5(GRIN2B):c.2064C>T (p.Asn688=)
|
|
|
|
NM_000834.5(GRIN2B):c.2109T>C (p.His703=)
|
|
|
|
NM_000834.5(GRIN2B):c.2121A>C (p.Gly707=)
|
|
|
|
NM_000834.5(GRIN2B):c.2139T>C (p.Gly713=)
|
rs2136415669
|
|
|
NM_000834.5(GRIN2B):c.2148T>C (p.Asp716=)
|
rs749565577
|
|
|
NM_000834.5(GRIN2B):c.2151A>G (p.Ala717=)
|
rs2136415645
|
|
|
NM_000834.5(GRIN2B):c.2152T>C (p.Leu718=)
|
rs1340071049
|
|
|
NM_000834.5(GRIN2B):c.2163G>A (p.Leu721=)
|
|
|
|
NM_000834.5(GRIN2B):c.216C>A (p.Ala72=)
|
|
|
|
NM_000834.5(GRIN2B):c.2171+10G>T
|
|
|
|
NM_000834.5(GRIN2B):c.2171+17A>C
|
|
|
|
NM_000834.5(GRIN2B):c.2171+9T>C
|
|
|
|
NM_000834.5(GRIN2B):c.2172-16C>T
|
|
|
|
NM_000834.5(GRIN2B):c.2172-20_2172-17del
|
rs765274847
|
|
|
NM_000834.5(GRIN2B):c.2172-6G>T
|
|
|
|
NM_000834.5(GRIN2B):c.2172-8del
|
|
|
|
NM_000834.5(GRIN2B):c.2181T>C (p.Asp727=)
|
|
|
|
NM_000834.5(GRIN2B):c.2184C>T (p.Ala728=)
|
|
|
|
NM_000834.5(GRIN2B):c.2202A>C (p.Ala734=)
|
rs148185805
|
|
|
NM_000834.5(GRIN2B):c.2205G>A (p.Val735=)
|
|
|
|
NM_000834.5(GRIN2B):c.2214T>C (p.Tyr738=)
|
|
|
|
NM_000834.5(GRIN2B):c.2242C>T (p.Leu748=)
|
|
|
|
NM_000834.5(GRIN2B):c.228C>A (p.Thr76=)
|
rs77299791
|
|
|
NM_000834.5(GRIN2B):c.2301A>G (p.Gln767=)
|
|
|
|
NM_000834.5(GRIN2B):c.2319G>A (p.Lys773=)
|
|
|
|
NM_000834.5(GRIN2B):c.2359+12_2359+15dup
|
rs768588788
|
|
|
NM_000834.5(GRIN2B):c.2359+17G>C
|
|
|
|
NM_000834.5(GRIN2B):c.2360-10del
|
rs1370652121
|
|
|
NM_000834.5(GRIN2B):c.2360-15C>A
|
rs1555103197
|
|
|
NM_000834.5(GRIN2B):c.2360-16T>G
|
|
|
|
NM_000834.5(GRIN2B):c.2360-9_2360-4del
|
rs770518465
|
|
|
NM_000834.5(GRIN2B):c.2385C>G (p.Leu795=)
|
|
|
|
NM_000834.5(GRIN2B):c.2393C>G (p.Thr798Ser)
|
rs1948652982
|
|
|
NM_000834.5(GRIN2B):c.2430C>T (p.Ser810=)
|
rs864309560
|
|
|
NM_000834.5(GRIN2B):c.246C>A (p.Ile82=)
|
|
|
|
NM_000834.5(GRIN2B):c.246C>T (p.Ile82=)
|
rs1865820376
|
|
|
NM_000834.5(GRIN2B):c.2479G>A (p.Ala827Thr)
|
rs2136409718
|
|
|
NM_000834.5(GRIN2B):c.2517A>G (p.Glu839=)
|
|
|
|
NM_000834.5(GRIN2B):c.2550T>C (p.Phe850=)
|
rs1591608921
|
|
|
NM_000834.5(GRIN2B):c.2598+14T>C
|
|
|
|
NM_000834.5(GRIN2B):c.2598+6T>C
|
rs773452060
|
|
|
NM_000834.5(GRIN2B):c.2599-17_2599-14del
|
|
|
|
NM_000834.5(GRIN2B):c.2599-18C>T
|
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|
|
NM_000834.5(GRIN2B):c.2599-19C>T
|
|
|
|
NM_000834.5(GRIN2B):c.2599-7G>C
|
|
|
|
NM_000834.5(GRIN2B):c.2625G>T (p.Val875=)
|
rs1325073683
|
|
|
NM_000834.5(GRIN2B):c.2628G>C (p.Ala876=)
|
|
|
|
NM_000834.5(GRIN2B):c.2631C>A (p.Ile877=)
|
rs1156368940
|
|
|
NM_000834.5(GRIN2B):c.2646T>C (p.Ser882=)
|
|
|
|
NM_000834.5(GRIN2B):c.264C>T (p.Leu88=)
|
|
|
|
NM_000834.5(GRIN2B):c.2655C>T (p.Asn885=)
|
rs2136406373
|
|
|
NM_000834.5(GRIN2B):c.2662A>G (p.Thr888Ala)
|
rs200256539
|
|
|
NM_000834.5(GRIN2B):c.2664_2665delinsTA (p.Ala889Thr)
|
|
|
|
NM_000834.5(GRIN2B):c.2685C>T (p.His895=)
|
rs549839161
|
|
|
NM_000834.5(GRIN2B):c.2708G>A (p.Arg903His)
|
rs1555102571
|
|
|
NM_000834.5(GRIN2B):c.2721C>T (p.Asn907=)
|
|
|
|
NM_000834.5(GRIN2B):c.2733G>A (p.Leu911=)
|
|
|
|
NM_000834.5(GRIN2B):c.273C>T (p.Asp91=)
|
|
|
|
NM_000834.5(GRIN2B):c.2741T>C (p.Val914Ala)
|
rs1565454741
|
|
|
NM_000834.5(GRIN2B):c.2748C>T (p.Gly916=)
|
rs1948608745
|
|
|
NM_000834.5(GRIN2B):c.2750C>T (p.Ser917Leu)
|
rs1555102552
|
|
|
NM_000834.5(GRIN2B):c.2761G>C (p.Ala921Pro)
|
rs1313881938
|
|
|
NM_000834.5(GRIN2B):c.2779C>A (p.Arg927=)
|
|
|
|
NM_000834.5(GRIN2B):c.2790C>T (p.Ser930=)
|
|
|
|
NM_000834.5(GRIN2B):c.2796T>C (p.Tyr932=)
|
rs2136406080
|
|
|
NM_000834.5(GRIN2B):c.2826G>T (p.Thr942=)
|
rs140573925
|
|
|
NM_000834.5(GRIN2B):c.2835C>T (p.Asp945=)
|
|
|
|
NM_000834.5(GRIN2B):c.2856G>A (p.Pro952=)
|
rs547507161
|
|
|
NM_000834.5(GRIN2B):c.2865G>A (p.Glu955=)
|
rs1279558402
|
|
|
NM_000834.5(GRIN2B):c.2877C>T (p.Phe959=)
|
|
|
|
NM_000834.5(GRIN2B):c.2889C>T (p.Ile963=)
|
|
|
|
NM_000834.5(GRIN2B):c.2897T>A (p.Val966Glu)
|
|
|
|
NM_000834.5(GRIN2B):c.2913G>C (p.Gly971=)
|
rs200696950
|
|
|
NM_000834.5(GRIN2B):c.2919G>A (p.Leu973=)
|
|
|
|
NM_000834.5(GRIN2B):c.291G>T (p.Val97=)
|
|
|
|
NM_000834.5(GRIN2B):c.2946A>G (p.Gln982=)
|
|
|
|
NM_000834.5(GRIN2B):c.2979T>C (p.Ser993=)
|
|
|
|
NM_000834.5(GRIN2B):c.3006G>A (p.Gly1002=)
|
|
|
|
NM_000834.5(GRIN2B):c.3009C>G (p.Leu1003=)
|
rs1460313772
|
|
|
NM_000834.5(GRIN2B):c.3030C>G (p.Pro1010=)
|
rs1948601838
|
|
|
NM_000834.5(GRIN2B):c.3043T>A (p.Ser1015Thr)
|
rs574130239
|
|
|
NM_000834.5(GRIN2B):c.3054C>T (p.Ile1018=)
|
rs2136405540
|
|
|
NM_000834.5(GRIN2B):c.3075C>T (p.Ile1025=)
|
|
|
|
NM_000834.5(GRIN2B):c.3078C>T (p.Gly1026=)
|
rs1555102406
|
|
|
NM_000834.5(GRIN2B):c.3085TCC[1] (p.Ser1030del)
|
rs878854145
|
|
|
NM_000834.5(GRIN2B):c.3090C>A (p.Ser1030=)
|
rs2136405464
|
|
|
NM_000834.5(GRIN2B):c.3096C>T (p.His1032=)
|
|
|
|
NM_000834.5(GRIN2B):c.3114G>C (p.Leu1038=)
|
|
|
|
NM_000834.5(GRIN2B):c.3120C>T (p.Gly1040=)
|
|
|
|
NM_000834.5(GRIN2B):c.3146A>G (p.Tyr1049Cys)
|
rs201866998
|
|
|
NM_000834.5(GRIN2B):c.3174C>G (p.Ser1058=)
|
rs772364390
|
|
|
NM_000834.5(GRIN2B):c.3177T>C (p.Asp1059=)
|
|
|
|
NM_000834.5(GRIN2B):c.3201C>A (p.Thr1067=)
|
|
|
|
NM_000834.5(GRIN2B):c.3201C>T (p.Thr1067=)
|
rs929166123
|
|
|
NM_000834.5(GRIN2B):c.3231C>A (p.Ala1077=)
|
|
|
|
NM_000834.5(GRIN2B):c.324C>A (p.Ile108=)
|
|
|
|
NM_000834.5(GRIN2B):c.324C>T (p.Ile108=)
|
|
|
|
NM_000834.5(GRIN2B):c.3253T>C (p.Tyr1085His)
|
rs1948595625
|
|
|
NM_000834.5(GRIN2B):c.3255T>C (p.Tyr1085=)
|
|
|
|
NM_000834.5(GRIN2B):c.325G>T (p.Ala109Ser)
|
rs772078838
|
|
|
NM_000834.5(GRIN2B):c.3275G>A (p.Arg1092Gln)
|
rs1555102321
|
|
|
NM_000834.5(GRIN2B):c.3296G>A (p.Arg1099His)
|
rs1411402744
|
|
|
NM_000834.5(GRIN2B):c.3302A>T (p.Glu1101Val)
|
rs2136405009
|
|
|
NM_000834.5(GRIN2B):c.3306T>C (p.Phe1102=)
|
rs763445499
|
|
|
NM_000834.5(GRIN2B):c.3309C>T (p.Asp1103=)
|
|
|
|
NM_000834.5(GRIN2B):c.3318G>A (p.Glu1106=)
|
|
|
|
NM_000834.5(GRIN2B):c.3339G>A (p.Pro1113=)
|
rs200660626
|
|
|
NM_000834.5(GRIN2B):c.3339G>T (p.Pro1113=)
|
rs200660626
|
|
|
NM_000834.5(GRIN2B):c.3343C>A (p.Arg1115Ser)
|
rs370908319
|
|
|
NM_000834.5(GRIN2B):c.336C>T (p.Leu112=)
|
rs1060504845
|
|
|
NM_000834.5(GRIN2B):c.3393C>T (p.Asp1131=)
|
|
|
|
NM_000834.5(GRIN2B):c.3456C>A (p.Thr1152=)
|
rs752200554
|
|
|
NM_000834.5(GRIN2B):c.3456C>T (p.Thr1152=)
|
rs752200554
|
|
|
NM_000834.5(GRIN2B):c.3459C>T (p.Asp1153=)
|
|
|
|
NM_000834.5(GRIN2B):c.3486T>C (p.Phe1162=)
|
rs202120141
|
|
|
NM_000834.5(GRIN2B):c.348A>C (p.Ser116=)
|
|
|
|
NM_000834.5(GRIN2B):c.3495C>T (p.Asp1165=)
|
|
|
|
NM_000834.5(GRIN2B):c.3516C>G (p.Pro1172=)
|
rs2136404402
|
|
|
NM_000834.5(GRIN2B):c.3522C>A (p.Thr1174=)
|
|
|
|
NM_000834.5(GRIN2B):c.3525C>T (p.Asn1175=)
|
rs1472155608
|
|
|
NM_000834.5(GRIN2B):c.3546G>A (p.Gly1182=)
|
|
|
|
NM_000834.5(GRIN2B):c.3561C>T (p.His1187=)
|
rs1300574984
|
|
|
NM_000834.5(GRIN2B):c.3564C>T (p.Gly1188=)
|
|
|
|
NM_000834.5(GRIN2B):c.3612G>A (p.Val1204=)
|
rs2136404080
|
|
|
NM_000834.5(GRIN2B):c.3625C>A (p.Arg1209=)
|
rs1488088518
|
|
|
NM_000834.5(GRIN2B):c.3627G>A (p.Arg1209=)
|
rs149089581
|
|
|
NM_000834.5(GRIN2B):c.3630C>T (p.Ser1210=)
|
|
|
|
NM_000834.5(GRIN2B):c.3646C>T (p.Arg1216Cys)
|
rs199834850
|
|
|
NM_000834.5(GRIN2B):c.364C>T (p.Pro122Ser)
|
rs1865817808
|
|
|
NM_000834.5(GRIN2B):c.366C>A (p.Pro122=)
|
rs7301328
|
|
|
NM_000834.5(GRIN2B):c.3678C>A (p.Ser1226=)
|
rs199529555
|
|
|
NM_000834.5(GRIN2B):c.3690G>C (p.Thr1230=)
|
rs200609066
|
|
|
NM_000834.5(GRIN2B):c.3702G>A (p.Ser1234=)
|
rs753797364
|
|
|
NM_000834.5(GRIN2B):c.3714G>A (p.Ala1238=)
|
|
|
|
NM_000834.5(GRIN2B):c.3717C>T (p.Cys1239=)
|
|
|
|
NM_000834.5(GRIN2B):c.3723G>T (p.Arg1241=)
|
|
|
|
NM_000834.5(GRIN2B):c.3750C>T (p.Asn1250=)
|
rs200883120
|
|
|
NM_000834.5(GRIN2B):c.3751C>T (p.Leu1251=)
|
rs200186058
|
|
|
NM_000834.5(GRIN2B):c.3753G>T (p.Leu1251=)
|
rs748973212
|
|
|
NM_000834.5(GRIN2B):c.3759C>T (p.Asp1253=)
|
|
|
|
NM_000834.5(GRIN2B):c.3796C>T (p.Pro1266Ser)
|
rs199935748
|
|
|
NM_000834.5(GRIN2B):c.3798G>T (p.Pro1266=)
|
rs754079938
|
|
|
NM_000834.5(GRIN2B):c.3807A>G (p.Pro1269=)
|
rs78765966
|
|
|
NM_000834.5(GRIN2B):c.3819G>A (p.Thr1273=)
|
rs1555101910
|
|
|
NM_000834.5(GRIN2B):c.3825C>T (p.Asn1275=)
|
rs200571186
|
|
|
NM_000834.5(GRIN2B):c.384G>C (p.Gly128=)
|
rs2136746889
|
|
|
NM_000834.5(GRIN2B):c.3873G>A (p.Gln1291=)
|
|
|
|
NM_000834.5(GRIN2B):c.3883C>A (p.Arg1295=)
|
|
|
|
NM_000834.5(GRIN2B):c.3912C>T (p.Tyr1304=)
|
rs1407009840
|
|
|
NM_000834.5(GRIN2B):c.3920T>C (p.Phe1307Ser)
|
rs1948575540
|
|
|
NM_000834.5(GRIN2B):c.393T>C (p.Ser131=)
|
rs1591774189
|
|
|
NM_000834.5(GRIN2B):c.3948C>T (p.Ala1316=)
|
rs1948574967
|
|
|
NM_000834.5(GRIN2B):c.3951G>C (p.Leu1317=)
|
|
|
|
NM_000834.5(GRIN2B):c.3963C>T (p.Ser1321=)
|
|
|
|
NM_000834.5(GRIN2B):c.3966A>G (p.Val1322=)
|
rs1555101821
|
|
|
NM_000834.5(GRIN2B):c.3968G>A (p.Ser1323Asn)
|
|
|
|
NM_000834.5(GRIN2B):c.3969C>T (p.Ser1323=)
|
rs1591605471
|
|
|
NM_000834.5(GRIN2B):c.3970C>T (p.Leu1324=)
|
|
|
|
NM_000834.5(GRIN2B):c.3978C>T (p.Asp1326=)
|
|
|
|
NM_000834.5(GRIN2B):c.3990C>T (p.Phe1330=)
|
rs1225505219
|
|
|
NM_000834.5(GRIN2B):c.4023G>A (p.Glu1341=)
|
|
|
|
NM_000834.5(GRIN2B):c.4038G>A (p.Glu1346=)
|
rs201214704
|
|
|
NM_000834.5(GRIN2B):c.4050CAA[2] (p.Asn1352del)
|
rs761812510
|
|
|
NM_000834.5(GRIN2B):c.4053C>T (p.Asn1351=)
|
|
|
|
NM_000834.5(GRIN2B):c.4071C>T (p.Pro1357=)
|
rs2136403023
|
|
|
NM_000834.5(GRIN2B):c.4084CAC[2] (p.His1364del)
|
rs1214837315
|
|
|
NM_000834.5(GRIN2B):c.40T>C (p.Leu14=)
|
rs1248811502
|
|
|
NM_000834.5(GRIN2B):c.4101C>G (p.Pro1367=)
|
rs112932810
|
|
|
NM_000834.5(GRIN2B):c.4104C>A (p.Gly1368=)
|
rs200021190
|
|
|
NM_000834.5(GRIN2B):c.4104C>T (p.Gly1368=)
|
rs200021190
|
|
|
NM_000834.5(GRIN2B):c.4107C>G (p.Gly1369=)
|
|
|
|
NM_000834.5(GRIN2B):c.411+17G>C
|
rs2136746854
|
|
|
NM_000834.5(GRIN2B):c.412-15C>G
|
rs1293031702
|
|
|
NM_000834.5(GRIN2B):c.412-5del
|
rs1591712751
|
|
|
NM_000834.5(GRIN2B):c.4140C>T (p.Asp1380=)
|
|
|
|
NM_000834.5(GRIN2B):c.4141C>A (p.Arg1381=)
|
|
|
|
NM_000834.5(GRIN2B):c.414T>C (p.Asp138=)
|
|
|
|
NM_000834.5(GRIN2B):c.4155C>T (p.Asn1385=)
|
|
|
|
NM_000834.5(GRIN2B):c.4158T>C (p.Pro1386=)
|
|
|
|
NM_000834.5(GRIN2B):c.4209C>G (p.Ser1403=)
|
|
|
|
NM_000834.5(GRIN2B):c.4230G>C (p.Thr1410=)
|
rs149655315
|
|
|
NM_000834.5(GRIN2B):c.4236G>A (p.Ala1412=)
|
|
|
|
NM_000834.5(GRIN2B):c.423C>T (p.Ser141=)
|
rs745829995
|
|
|
NM_000834.5(GRIN2B):c.4245G>T (p.Ser1415=)
|
rs150956675
|
|
|
NM_000834.5(GRIN2B):c.4254G>A (p.Arg1418=)
|
|
|
|
NM_000834.5(GRIN2B):c.4269C>T (p.Ala1423=)
|
rs1565452665
|
|
|
NM_000834.5(GRIN2B):c.4287G>A (p.Pro1429=)
|
rs146235271
|
|
|
NM_000834.5(GRIN2B):c.4296G>A (p.Ser1432=)
|
rs755880051
|
|
|
NM_000834.5(GRIN2B):c.4299C>T (p.Ala1433=)
|
|
|
|
NM_000834.5(GRIN2B):c.429C>T (p.Phe143=)
|
rs868689428
|
|
|
NM_000834.5(GRIN2B):c.4305T>C (p.His1435=)
|
|
|
|
NM_000834.5(GRIN2B):c.4309_4310delinsAT (p.Ala1437Ile)
|
rs1591604894
|
|
|
NM_000834.5(GRIN2B):c.4314G>A (p.Val1438=)
|
rs1384732217
|
|
|
NM_000834.5(GRIN2B):c.4318G>T (p.Ala1440Ser)
|
|
|
|
NM_000834.5(GRIN2B):c.4323T>C (p.Arg1441=)
|
rs2136402416
|
|
|
NM_000834.5(GRIN2B):c.4326C>T (p.Phe1442=)
|
|
|
|
NM_000834.5(GRIN2B):c.4329G>A (p.Gln1443=)
|
|
|
|
NM_000834.5(GRIN2B):c.4385C>A (p.Pro1462His)
|
|
|
|
NM_000834.5(GRIN2B):c.4416T>G (p.His1472Gln)
|
rs1555101497
|
|
|
NM_000834.5(GRIN2B):c.4421A>G (p.Tyr1474Cys)
|
rs2136402179
|
|
|
NM_000834.5(GRIN2B):c.444A>G (p.Pro148=)
|
rs200658883
|
|
|
NM_000834.5(GRIN2B):c.465C>T (p.Ser155=)
|
rs115189840
|
|
|
NM_000834.5(GRIN2B):c.495C>T (p.Asp165=)
|
|
|
|
NM_000834.5(GRIN2B):c.501C>T (p.Tyr167=)
|
|
|
|
NM_000834.5(GRIN2B):c.537C>T (p.Tyr179=)
|
|
|
|
NM_000834.5(GRIN2B):c.573G>A (p.Glu191=)
|
|
|
|
NM_000834.5(GRIN2B):c.588C>G (p.Gly196=)
|
|
|
|
NM_000834.5(GRIN2B):c.603G>A (p.Glu201=)
|
|
|
|
NM_000834.5(GRIN2B):c.610C>T (p.Leu204=)
|
rs2136629371
|
|
|
NM_000834.5(GRIN2B):c.615G>A (p.Leu205=)
|
|
|
|
NM_000834.5(GRIN2B):c.623C>T (p.Ser208Phe)
|
|
|
|
NM_000834.5(GRIN2B):c.66A>G (p.Ser22=)
|
|
|
|
NM_000834.5(GRIN2B):c.66A>T (p.Ser22=)
|
rs1591774566
|
|
|
NM_000834.5(GRIN2B):c.672A>G (p.Gln224=)
|
rs2136629283
|
|
|
NM_000834.5(GRIN2B):c.675C>T (p.Ser225=)
|
|
|
|
NM_000834.5(GRIN2B):c.681C>T (p.Ile227=)
|
|
|
|
NM_000834.5(GRIN2B):c.711C>T (p.Ala237=)
|
|
|
|
NM_000834.5(GRIN2B):c.72C>T (p.Ser24=)
|
|
|
|
NM_000834.5(GRIN2B):c.741A>G (p.Val247=)
|
rs2136629162
|
|
|
NM_000834.5(GRIN2B):c.764C>T (p.Thr255Met)
|
rs748054907
|
|
|
NM_000834.5(GRIN2B):c.807G>A (p.Val269=)
|
rs61754644
|
|
|
NM_000834.5(GRIN2B):c.813G>A (p.Ala271=)
|
rs201732785
|
|
|
NM_000834.5(GRIN2B):c.822C>T (p.Pro274=)
|
rs1863524208
|
|
|
NM_000834.5(GRIN2B):c.843A>G (p.Ser281=)
|
rs201585449
|
|
|
NM_000834.5(GRIN2B):c.846T>C (p.Tyr282=)
|
rs1208230861
|
|
|
NM_000834.5(GRIN2B):c.861T>C (p.Tyr287=)
|
|
|
|
NM_000834.5(GRIN2B):c.876A>G (p.Arg292=)
|
rs876661173
|
|
|
NM_000834.5(GRIN2B):c.90G>A (p.Lys30=)
|
|
|
|
NM_000834.5(GRIN2B):c.920T>G (p.Met307Arg)
|
rs2136628922
|
|
|
NM_000834.5(GRIN2B):c.942C>T (p.Ile314=)
|
rs1476421998
|
|
|
NM_000834.5(GRIN2B):c.951C>T (p.Pro317=)
|
rs1410392494
|
|
|
NM_000834.5(GRIN2B):c.963T>C (p.Cys321=)
|
rs1555132954
|
|
|
NM_000834.5(GRIN2B):c.96C>T (p.Pro32=)
|
rs374173060
|
|
|
NM_000834.5(GRIN2B):c.981G>A (p.Lys327=)
|
rs1863519417
|
|
|
NM_001032221.6(STXBP1):c.1029+19A>T
|
|
|
|
NM_001032221.6(STXBP1):c.1029+8A>G
|
rs2131497514
|
|
|
NM_001032221.6(STXBP1):c.1030-19C>G
|
|
|
|
NM_001032221.6(STXBP1):c.1030-5C>G
|
|
|
|
NM_001032221.6(STXBP1):c.1086A>G (p.Val362=)
|
|
|
|
NM_001032221.6(STXBP1):c.1098C>T (p.Cys366=)
|
rs2131501402
|
|
|
NM_001032221.6(STXBP1):c.1104G>A (p.Val368=)
|
|
|
|
NM_001032221.6(STXBP1):c.1110+11C>T
|
|
|
|
NM_001032221.6(STXBP1):c.1110+14_1110+17del
|
|
|
|
NM_001032221.6(STXBP1):c.1110+18C>T
|
|
|
|
NM_001032221.6(STXBP1):c.1111-11G>A
|
|
|
|
NM_001032221.6(STXBP1):c.1111-15G>C
|
|
|
|
NM_001032221.6(STXBP1):c.1111-7T>C
|
|
|
|
NM_001032221.6(STXBP1):c.1111-9T>C
|
|
|
|
NM_001032221.6(STXBP1):c.1114C>A (p.Leu372Met)
|
rs1841722496
|
|
|
NM_001032221.6(STXBP1):c.1116G>C (p.Leu372=)
|
|
|
|
NM_001032221.6(STXBP1):c.1124G>A (p.Gly375Asp)
|
rs2131509770
|
|
|
NM_001032221.6(STXBP1):c.1164A>G (p.Arg388=)
|
rs1254150561
|
|
|
NM_001032221.6(STXBP1):c.1167C>T (p.Ala389=)
|
|
|
|
NM_001032221.6(STXBP1):c.1170C>T (p.Ile390=)
|
rs2131509902
|
|
|
NM_001032221.6(STXBP1):c.1176C>T (p.Pro392=)
|
|
|
|
NM_001032221.6(STXBP1):c.1200C>T (p.Ser400=)
|
rs2131510012
|
|
|
NM_001032221.6(STXBP1):c.1206T>C (p.Tyr402=)
|
|
|
|
NM_001032221.6(STXBP1):c.1249+10_1249+27del
|
rs1481500212
|
|
|
NM_001032221.6(STXBP1):c.1249+19G>A
|
rs769217385
|
|
|
NM_001032221.6(STXBP1):c.1249+9G>A
|
rs372869649
|
|
|
NM_001032221.6(STXBP1):c.1249+9G>C
|
rs372869649
|
|
|
NM_001032221.6(STXBP1):c.1250-15G>A
|
|
|
|
NM_001032221.6(STXBP1):c.1250-17G>C
|
rs1477546983
|
|
|
NM_001032221.6(STXBP1):c.1250-19G>C
|
rs370856785
|
|
|
NM_001032221.6(STXBP1):c.1250-19G>T
|
|
|
|
NM_001032221.6(STXBP1):c.1250-20C>G
|
rs368217811
|
|
|
NM_001032221.6(STXBP1):c.1254C>T (p.Ile418=)
|
rs2131513094
|
|
|
NM_001032221.6(STXBP1):c.1260G>A (p.Glu420=)
|
rs1564354858
|
|
|
NM_001032221.6(STXBP1):c.1281C>G (p.Ile427Met)
|
rs1329067269
|
|
|
NM_001032221.6(STXBP1):c.1288G>T (p.Ala430Ser)
|
|
|
|
NM_001032221.6(STXBP1):c.1299C>A (p.Pro433=)
|
|
|
|
NM_001032221.6(STXBP1):c.1305G>A (p.Glu435=)
|
rs1841768984
|
|
|
NM_001032221.6(STXBP1):c.1326C>T (p.Asn442=)
|
|
|
|
NM_001032221.6(STXBP1):c.1338C>A (p.Leu446=)
|
rs752950410
|
|
|
NM_001032221.6(STXBP1):c.134G>T (p.Cys45Phe)
|
rs1840656429
|
|
|
NM_001032221.6(STXBP1):c.1360-10G>A
|
rs2131521467
|
|
|
NM_001032221.6(STXBP1):c.1360-17T>C
|
|
|
|
NM_001032221.6(STXBP1):c.1360-18G>C
|
rs558843667
|
|
|
NM_001032221.6(STXBP1):c.1360-18G>T
|
|
|
|
NM_001032221.6(STXBP1):c.1366C>T (p.Leu456=)
|
rs1841863163
|
|
|
NM_001032221.6(STXBP1):c.1377G>C (p.Arg459=)
|
|
|
|
NM_001032221.6(STXBP1):c.1386G>T (p.Pro462=)
|
|
|
|
NM_001032221.6(STXBP1):c.1390C>T (p.Arg464Trp)
|
rs1239532436
|
|
|
NM_001032221.6(STXBP1):c.1391G>A (p.Arg464Gln)
|
rs1381421236
|
|
|
NM_001032221.6(STXBP1):c.1398A>G (p.Glu466=)
|
rs1046520263
|
|
|
NM_001032221.6(STXBP1):c.1407C>T (p.Ser469=)
|
|
|
|
NM_001032221.6(STXBP1):c.1408G>A (p.Glu470Lys)
|
|
|
|
NM_001032221.6(STXBP1):c.1440G>A (p.Pro480=)
|
|
|
|
NM_001032221.6(STXBP1):c.144A>C (p.Thr48=)
|
rs1462537561
|
|
|
NM_001032221.6(STXBP1):c.145G>C (p.Asp49His)
|
rs1244732832
|
|
|
NM_001032221.6(STXBP1):c.1461+10G>A
|
rs1453106879
|
|
|
NM_001032221.6(STXBP1):c.1461+17A>G
|
|
|
|
NM_001032221.6(STXBP1):c.1462-10T>C
|
|
|
|
NM_001032221.6(STXBP1):c.1467T>C (p.Thr489=)
|
|
|
|
NM_001032221.6(STXBP1):c.147C>T (p.Asp49=)
|
rs1373609182
|
|
|
NM_001032221.6(STXBP1):c.1490A>G (p.Lys497Arg)
|
rs2131528378
|
|
|
NM_001032221.6(STXBP1):c.1503T>C (p.Tyr501=)
|
|
|
|
NM_001032221.6(STXBP1):c.1547+20C>T
|
|
|
|
NM_001032221.6(STXBP1):c.1548-11C>G
|
rs1564357060
|
|
|
NM_001032221.6(STXBP1):c.1548-12T>A
|
|
|
|
NM_001032221.6(STXBP1):c.1548-13C>T
|
|
|
|
NM_001032221.6(STXBP1):c.1548-18TC[2]
|
rs148316151
|
|
|
NM_001032221.6(STXBP1):c.1548-18TC[3]
|
rs148316151
|
|
|
NM_001032221.6(STXBP1):c.1548-18TC[4]
|
rs148316151
|
|
|
NM_001032221.6(STXBP1):c.1548-19_1548-18del
|
|
|
|
NM_001032221.6(STXBP1):c.1548-7_1548-6del
|
|
|
|
NM_001032221.6(STXBP1):c.1548-8_1548-3del
|
rs768558279
|
|
|
NM_001032221.6(STXBP1):c.1549G>A (p.Ala517Thr)
|
rs1057518123
|
|
|
NM_001032221.6(STXBP1):c.1554C>T (p.Arg518=)
|
|
|
|
NM_001032221.6(STXBP1):c.1593C>T (p.Tyr531=)
|
rs767199598
|
|
|
NM_001032221.6(STXBP1):c.15C>G (p.Gly5=)
|
rs2132275559
|
|
|
NM_001032221.6(STXBP1):c.1605C>T (p.Pro535=)
|
rs779926394
|
|
|
NM_001032221.6(STXBP1):c.1623C>A (p.Ile541=)
|
rs1278265158
|
|
|
NM_001032221.6(STXBP1):c.1633G>A (p.Val545Met)
|
|
|
|
NM_001032221.6(STXBP1):c.1647G>A (p.Glu549=)
|
|
|
|
NM_001032221.6(STXBP1):c.1674G>A (p.Gln558=)
|
rs1842048227
|
|
|
NM_001032221.6(STXBP1):c.169+10C>A
|
rs1060504318
|
|
|
NM_001032221.6(STXBP1):c.169+11G>A
|
|
|
|
NM_001032221.6(STXBP1):c.169+18A>C
|
rs377086674
|
|
|
NM_001032221.6(STXBP1):c.169+6C>T
|
|
|
|
NM_001032221.6(STXBP1):c.169+8T>C
|
|
|
|
NM_001032221.6(STXBP1):c.170-18G>A
|
|
|
|
NM_001032221.6(STXBP1):c.170-18G>T
|
|
|
|
NM_001032221.6(STXBP1):c.1702+12T>C
|
|
|
|
NM_001032221.6(STXBP1):c.1702+15T>A
|
|
|
|
NM_001032221.6(STXBP1):c.1702+1790G>A
|
|
|
|
NM_001032221.6(STXBP1):c.1702+1794C>G
|
rs2131542998
|
|
|
NM_001032221.6(STXBP1):c.1702+1801C>T
|
rs2131543011
|
|
|
NM_001032221.6(STXBP1):c.171T>C (p.Ile57=)
|
rs1554776675
|
|
|
NM_001032221.6(STXBP1):c.182T>C (p.Ile61Thr)
|
|
|
|
NM_001032221.6(STXBP1):c.198G>A (p.Glu66=)
|
|
|
|
NM_001032221.6(STXBP1):c.201G>T (p.Pro67=)
|
rs377398330
|
|
|
NM_001032221.6(STXBP1):c.207C>T (p.Pro69=)
|
rs1417891697
|
|
|
NM_001032221.6(STXBP1):c.214G>A (p.Glu72Lys)
|
rs754668616
|
|
|
NM_001032221.6(STXBP1):c.216G>A (p.Glu72=)
|
rs2132460966
|
|
|
NM_001032221.6(STXBP1):c.234T>G (p.Thr78=)
|
rs1564348777
|
|
|
NM_001032221.6(STXBP1):c.240C>T (p.Ser80=)
|
rs564021862
|
|
|
NM_001032221.6(STXBP1):c.246+14C>A
|
|
|
|
NM_001032221.6(STXBP1):c.247-11C>G
|
|
|
|
NM_001032221.6(STXBP1):c.247-11C>T
|
|
|
|
NM_001032221.6(STXBP1):c.247-13C>T
|
rs763971558
|
|
|
NM_001032221.6(STXBP1):c.247-17T>C
|
|
|
|
NM_001032221.6(STXBP1):c.247-18T>C
|
|
|
|
NM_001032221.6(STXBP1):c.247-9C>A
|
rs757257907
|
|
|
NM_001032221.6(STXBP1):c.247-9C>G
|
|
|
|
NM_001032221.6(STXBP1):c.249C>G (p.Ser83=)
|
|
|
|
NM_001032221.6(STXBP1):c.24T>C (p.Ala8=)
|
|
|
|
NM_001032221.6(STXBP1):c.267T>C (p.Ser89=)
|
rs1554776832
|
|
|
NM_001032221.6(STXBP1):c.285G>T (p.Pro95=)
|
rs773724420
|
|
|
NM_001032221.6(STXBP1):c.300G>A (p.Arg100=)
|
|
|
|
NM_001032221.6(STXBP1):c.306A>G (p.Ala102=)
|
|
|
|
NM_001032221.6(STXBP1):c.325+10A>G
|
|
|
|
NM_001032221.6(STXBP1):c.326-13G>A
|
|
|
|
NM_001032221.6(STXBP1):c.326-20G>A
|
|
|
|
NM_001032221.6(STXBP1):c.339C>T (p.Ala113=)
|
|
|
|
NM_001032221.6(STXBP1):c.33A>G (p.Gly11=)
|
rs1588211811
|
|
|
NM_001032221.6(STXBP1):c.37+12C>A
|
|
|
|
NM_001032221.6(STXBP1):c.37+18C>A
|
|
|
|
NM_001032221.6(STXBP1):c.37+19C>T
|
rs1057521969
|
|
|
NM_001032221.6(STXBP1):c.37+8G>T
|
|
|
|
NM_001032221.6(STXBP1):c.38-14_38-13del
|
rs768774516
|
|
|
NM_001032221.6(STXBP1):c.38-5T>C
|
rs2132436505
|
|
|
NM_001032221.6(STXBP1):c.38-7T>G
|
rs2132436494
|
|
|
NM_001032221.6(STXBP1):c.381C>A (p.Ile127=)
|
|
|
|
NM_001032221.6(STXBP1):c.393G>A (p.Thr131=)
|
|
|
|
NM_001032221.6(STXBP1):c.405T>C (p.Ile135=)
|
|
|
|
NM_001032221.6(STXBP1):c.417G>A (p.Pro139=)
|
rs931563377
|
|
|
NM_001032221.6(STXBP1):c.426C>T (p.Ser142=)
|
rs1841030655
|
|
|
NM_001032221.6(STXBP1):c.429+19T>G
|
|
|
|
NM_001032221.6(STXBP1):c.429+20G>A
|
rs2131455477
|
|
|
NM_001032221.6(STXBP1):c.430-4C>T
|
|
|
|
NM_001032221.6(STXBP1):c.444C>T (p.Asp148=)
|
rs1841132483
|
|
|
NM_001032221.6(STXBP1):c.453C>T (p.Asp151=)
|
|
|
|
NM_001032221.6(STXBP1):c.456T>G (p.Ser152=)
|
rs2131462456
|
|
|
NM_001032221.6(STXBP1):c.486T>A (p.Ala162=)
|
|
|
|
NM_001032221.6(STXBP1):c.486T>C (p.Ala162=)
|
|
|
|
NM_001032221.6(STXBP1):c.510G>A (p.Glu170=)
|
rs1793959490
|
|
|
NM_001032221.6(STXBP1):c.524A>C (p.Gln175Pro)
|
|
|
|
NM_001032221.6(STXBP1):c.528C>T (p.Ile176=)
|
|
|
|
NM_001032221.6(STXBP1):c.529G>A (p.Ala177Thr)
|
rs1411421913
|
|
|
NM_001032221.6(STXBP1):c.52G>A (p.Val18Met)
|
rs2132436612
|
|
|
NM_001032221.6(STXBP1):c.574C>T (p.Arg192Trp)
|
rs1841142873
|
|
|
NM_001032221.6(STXBP1):c.579-7T>C
|
rs2131469008
|
|
|
NM_001032221.6(STXBP1):c.585C>T (p.Tyr195=)
|
|
|
|
NM_001032221.6(STXBP1):c.597C>T (p.Ala199=)
|
|
|
|
NM_001032221.6(STXBP1):c.60G>A (p.Lys20=)
|
|
|
|
NM_001032221.6(STXBP1):c.615C>A (p.Ile205=)
|
|
|
|
NM_001032221.6(STXBP1):c.624G>A (p.Lys208=)
|
rs1841237495
|
|
|
NM_001032221.6(STXBP1):c.664-12G>A
|
|
|
|
NM_001032221.6(STXBP1):c.664-12G>C
|
|
|
|
NM_001032221.6(STXBP1):c.664-13T>C
|
rs1554777463
|
|
|
NM_001032221.6(STXBP1):c.664-18C>T
|
|
|
|
NM_001032221.6(STXBP1):c.669A>C (p.Pro223=)
|
|
|
|
NM_001032221.6(STXBP1):c.681C>T (p.Arg227=)
|
rs553892771
|
|
|
NM_001032221.6(STXBP1):c.690C>G (p.Leu230=)
|
|
|
|
NM_001032221.6(STXBP1):c.699G>A (p.Leu233=)
|
|
|
|
NM_001032221.6(STXBP1):c.6C>A (p.Ala2=)
|
rs144094037
|
|
|
NM_001032221.6(STXBP1):c.729G>A (p.Val243=)
|
|
|
|
NM_001032221.6(STXBP1):c.730C>G (p.Leu244Val)
|
|
|
|
NM_001032221.6(STXBP1):c.753T>A (p.Ala251=)
|
rs761987600
|
|
|
NM_001032221.6(STXBP1):c.753T>C (p.Ala251=)
|
|
|
|
NM_001032221.6(STXBP1):c.75G>A (p.Lys25=)
|
|
|
|
NM_001032221.6(STXBP1):c.778G>A (p.Glu260Lys)
|
rs1841290624
|
|
|
NM_001032221.6(STXBP1):c.786T>G (p.Asp262Glu)
|
rs2131473084
|
|
|
NM_001032221.6(STXBP1):c.794+10G>C
|
|
|
|
NM_001032221.6(STXBP1):c.794+15A>G
|
|
|
|
NM_001032221.6(STXBP1):c.795-11C>G
|
|
|
|
NM_001032221.6(STXBP1):c.795-13G>A
|
|
|
|
NM_001032221.6(STXBP1):c.795-18G>A
|
|
|
|
NM_001032221.6(STXBP1):c.795-20G>T
|
|
|
|
NM_001032221.6(STXBP1):c.795-6T>C
|
rs2131481198
|
|
|
NM_001032221.6(STXBP1):c.795-7A>G
|
|
|
|
NM_001032221.6(STXBP1):c.797A>G (p.Tyr266Cys)
|
rs2131481245
|
|
|
NM_001032221.6(STXBP1):c.798T>C (p.Tyr266=)
|
rs751170778
|
|
|
NM_001032221.6(STXBP1):c.809G>T (p.Gly270Val)
|
rs2131481318
|
|
|
NM_001032221.6(STXBP1):c.814G>A (p.Gly272Arg)
|
rs1841382363
|
|
|
NM_001032221.6(STXBP1):c.815G>A (p.Gly272Glu)
|
rs1554777718
|
|
|
NM_001032221.6(STXBP1):c.819G>A (p.Glu273=)
|
|
|
|
NM_001032221.6(STXBP1):c.837G>T (p.Val279=)
|
|
|
|
NM_001032221.6(STXBP1):c.859C>T (p.Leu287=)
|
rs1841385147
|
|
|
NM_001032221.6(STXBP1):c.87+16A>G
|
rs2132436854
|
|
|
NM_001032221.6(STXBP1):c.88-20G>A
|
|
|
|
NM_001032221.6(STXBP1):c.88-9T>C
|
|
|
|
NM_001032221.6(STXBP1):c.882G>A (p.Lys294=)
|
rs1325070688
|
|
|
NM_001032221.6(STXBP1):c.888C>A (p.Ile296=)
|
rs201302013
|
|
|
NM_001032221.6(STXBP1):c.891A>T (p.Ala297=)
|
|
|
|
NM_001032221.6(STXBP1):c.902+10C>A
|
rs760108945
|
|
|
NM_001032221.6(STXBP1):c.902+12C>A
|
|
|
|
NM_001032221.6(STXBP1):c.902+16C>T
|
|
|
|
NM_001032221.6(STXBP1):c.902+7G>C
|
rs761007581
|
|
|
NM_001032221.6(STXBP1):c.902+9_902+28del
|
rs1588324230
|
|
|
NM_001032221.6(STXBP1):c.903-9A>G
|
|
|
|
NM_001032221.6(STXBP1):c.903-9A>T
|
|
|
|
NM_001032221.6(STXBP1):c.912C>T (p.Thr304=)
|
|
|
|
NM_001032221.6(STXBP1):c.915G>A (p.Arg305=)
|
rs2131488913
|
|
|
NM_001032221.6(STXBP1):c.963+10T>G
|
|
|
|
NM_001032221.6(STXBP1):c.963+12C>G
|
|
|
|
NM_001032221.6(STXBP1):c.963+9A>T
|
|
|
|
NM_001032221.6(STXBP1):c.964-20T>G
|
|
|
|
NM_001032221.6(STXBP1):c.964-8C>A
|
|
|
|
NM_001032221.6(STXBP1):c.964-9C>G
|
rs1034636066
|
|
|
NM_001032221.6(STXBP1):c.966C>A (p.Thr322=)
|
|
|
|
NM_001032221.6(STXBP1):c.96G>T (p.Val32=)
|
|
|
|
NM_001040142.2(SCN2A):c.1034+15C>T
|
|
|
|
NM_001040142.2(SCN2A):c.1035-13A>G
|
|
|
|
NM_001040142.2(SCN2A):c.1050A>T (p.Gly350=)
|
rs1284650444
|
|
|
NM_001040142.2(SCN2A):c.1053C>T (p.Tyr351=)
|
rs1574566686
|
|
|
NM_001040142.2(SCN2A):c.1071T>G (p.Gly357=)
|
rs779499394
|
|
|
NM_001040142.2(SCN2A):c.108A>G (p.Arg36=)
|
rs2106149149
|
|
|
NM_001040142.2(SCN2A):c.1113T>C (p.Ser371=)
|
rs1438036303
|
|
|
NM_001040142.2(SCN2A):c.1167T>C (p.Leu389=)
|
rs1186490705
|
|
|
NM_001040142.2(SCN2A):c.1174C>T (p.Leu392=)
|
|
|
|
NM_001040142.2(SCN2A):c.1176+11A>T
|
|
|
|
NM_001040142.2(SCN2A):c.1176+12T>C
|
|
|
|
NM_001040142.2(SCN2A):c.1176+13A>T
|
|
|
|
NM_001040142.2(SCN2A):c.1177-16C>T
|
|
|
|
NM_001040142.2(SCN2A):c.1180C>T (p.Leu394=)
|
|
|
|
NM_001040142.2(SCN2A):c.1200G>T (p.Thr400=)
|
rs532681917
|
|
|
NM_001040142.2(SCN2A):c.1218G>A (p.Val406=)
|
|
|
|
NM_001040142.2(SCN2A):c.1224C>A (p.Val408=)
|
|
|
|
NM_001040142.2(SCN2A):c.1224C>T (p.Val408=)
|
|
|
|
NM_001040142.2(SCN2A):c.1227T>C (p.Ile409=)
|
rs1559355886
|
|
|
NM_001040142.2(SCN2A):c.1231T>C (p.Leu411=)
|
|
|
|
NM_001040142.2(SCN2A):c.1251A>C (p.Ile417=)
|
rs1290406159
|
|
|
NM_001040142.2(SCN2A):c.1281C>T (p.Ala427=)
|
rs2105255954
|
|
|
NM_001040142.2(SCN2A):c.12A>G (p.Ser4=)
|
|
|
|
NM_001040142.2(SCN2A):c.1302C>T (p.Ala434=)
|
rs1488671443
|
|
|
NM_001040142.2(SCN2A):c.1305A>G (p.Thr435=)
|
rs1574567854
|
|
|
NM_001040142.2(SCN2A):c.1326G>A (p.Lys442=)
|
|
|
|
NM_001040142.2(SCN2A):c.1350C>T (p.Leu450=)
|
rs750850028
|
|
|
NM_001040142.2(SCN2A):c.1383+7T>C
|
rs2105256264
|
|
|
NM_001040142.2(SCN2A):c.1384-11C>T
|
rs780656967
|
|
|
NM_001040142.2(SCN2A):c.1384-12G>T
|
|
|
|
NM_001040142.2(SCN2A):c.1384-15T>C
|
|
|
|
NM_001040142.2(SCN2A):c.1384-19A>G
|
|
|
|
NM_001040142.2(SCN2A):c.1384-7C>T
|
rs1283931859
|
|
|
NM_001040142.2(SCN2A):c.1428T>A (p.Gly476=)
|
|
|
|
NM_001040142.2(SCN2A):c.1437G>A (p.Gly479=)
|
rs940572077
|
|
|
NM_001040142.2(SCN2A):c.1445T>G (p.Val482Gly)
|
|
|
|
NM_001040142.2(SCN2A):c.147C>T (p.Gly49=)
|
|
|
|
NM_001040142.2(SCN2A):c.1485C>T (p.Ser495=)
|
rs756904745
|
|
|
NM_001040142.2(SCN2A):c.1524G>A (p.Lys508=)
|
rs2105259852
|
|
|
NM_001040142.2(SCN2A):c.1533A>G (p.Lys511=)
|
rs2105259899
|
|
|
NM_001040142.2(SCN2A):c.159C>T (p.Asn53=)
|
|
|
|
NM_001040142.2(SCN2A):c.1629A>G (p.Gly543=)
|
|
|
|
NM_001040142.2(SCN2A):c.1641A>G (p.Thr547=)
|
|
|
|
NM_001040142.2(SCN2A):c.1644T>C (p.Tyr548=)
|
|
|
|
NM_001040142.2(SCN2A):c.1668C>T (p.His556=)
|
rs1574572897
|
|
|
NM_001040142.2(SCN2A):c.1671+14A>T
|
|
|
|
NM_001040142.2(SCN2A):c.1671+19A>G
|
|
|
|
NM_001040142.2(SCN2A):c.1672-13T>C
|
|
|
|
NM_001040142.2(SCN2A):c.1672-13T>G
|
rs1168838956
|
|
|
NM_001040142.2(SCN2A):c.1672-4A>G
|
|
|
|
NM_001040142.2(SCN2A):c.1672-6T>A
|
rs2105276596
|
|
|
NM_001040142.2(SCN2A):c.1672-7T>C
|
rs1553571855
|
|
|
NM_001040142.2(SCN2A):c.1672-8A>T
|
rs761226454
|
|
|
NM_001040142.2(SCN2A):c.1674C>T (p.Ser558=)
|
|
|
|
NM_001040142.2(SCN2A):c.1695C>A (p.Ser565=)
|
rs267598960
|
|
|
NM_001040142.2(SCN2A):c.1725G>C (p.Ala575=)
|
rs543538780
|
|
|
NM_001040142.2(SCN2A):c.1761T>C (p.Ile587=)
|
|
|
|
NM_001040142.2(SCN2A):c.1764C>T (p.Gly588=)
|
rs2105276848
|
|
|
NM_001040142.2(SCN2A):c.1767T>C (p.Ser589=)
|
|
|
|
NM_001040142.2(SCN2A):c.177A>C (p.Gly59=)
|
rs796053110
|
|
|
NM_001040142.2(SCN2A):c.1815C>T (p.Asp605=)
|
|
|
|
NM_001040142.2(SCN2A):c.1833G>A (p.Leu611=)
|
rs1057522258
|
|
|
NM_001040142.2(SCN2A):c.1839G>A (p.Val613=)
|
|
|
|
NM_001040142.2(SCN2A):c.1842G>A (p.Pro614=)
|
rs114315466
|
|
|
NM_001040142.2(SCN2A):c.1871A>G (p.Asn624Ser)
|
|
|
|
NM_001040142.2(SCN2A):c.1881G>A (p.Gln627=)
|
rs1466478648
|
|
|
NM_001040142.2(SCN2A):c.1893C>T (p.Ala631=)
|
|
|
|
NM_001040142.2(SCN2A):c.189A>G (p.Pro63=)
|
rs2106149322
|
|
|
NM_001040142.2(SCN2A):c.1941T>C (p.Ala647=)
|
|
|
|
NM_001040142.2(SCN2A):c.1956T>C (p.Gly652=)
|
|
|
|
NM_001040142.2(SCN2A):c.1956T>G (p.Gly652=)
|
|
|
|
NM_001040142.2(SCN2A):c.1965C>A (p.Ser655=)
|
rs914170392
|
|
|
NM_001040142.2(SCN2A):c.1966C>T (p.Leu656=)
|
rs748739874
|
|
|
NM_001040142.2(SCN2A):c.1968G>C (p.Leu656=)
|
|
|
|
NM_001040142.2(SCN2A):c.1976G>T (p.Gly659Val)
|
rs368887417
|
|
|
NM_001040142.2(SCN2A):c.1986C>A (p.Thr662=)
|
rs530608927
|
|
|
NM_001040142.2(SCN2A):c.198T>C (p.Tyr66=)
|
|
|
|
NM_001040142.2(SCN2A):c.1995T>G (p.Ser665=)
|
rs2105277323
|
|
|
NM_001040142.2(SCN2A):c.2005C>T (p.Leu669Phe)
|
rs766470088
|
|
|
NM_001040142.2(SCN2A):c.2010A>G (p.Leu670=)
|
|
|
|
NM_001040142.2(SCN2A):c.2016+13A>G
|
|
|
|
NM_001040142.2(SCN2A):c.2016+17T>C
|
rs2105277430
|
|
|
NM_001040142.2(SCN2A):c.2016+18T>G
|
|
|
|
NM_001040142.2(SCN2A):c.2025T>C (p.Thr675=)
|
rs1698384424
|
|
|
NM_001040142.2(SCN2A):c.2049A>G (p.Arg683=)
|
|
|
|
NM_001040142.2(SCN2A):c.2052G>A (p.Arg684=)
|
|
|
|
NM_001040142.2(SCN2A):c.2058T>C (p.Ser686=)
|
rs1334530455
|
|
|
NM_001040142.2(SCN2A):c.2070T>A (p.Val690=)
|
rs1574600370
|
|
|
NM_001040142.2(SCN2A):c.2079T>C (p.Asp693=)
|
rs1553573107
|
|
|
NM_001040142.2(SCN2A):c.2103G>A (p.Arg701=)
|
|
|
|
NM_001040142.2(SCN2A):c.2112A>G (p.Ala704=)
|
|
|
|
NM_001040142.2(SCN2A):c.2119A>T (p.Ile707Leu)
|
|
|
|
NM_001040142.2(SCN2A):c.213A>T (p.Pro71=)
|
rs1574525422
|
|
|
NM_001040142.2(SCN2A):c.2149+11A>C
|
|
|
|
NM_001040142.2(SCN2A):c.2149+9A>G
|
|
|
|
NM_001040142.2(SCN2A):c.2150-10T>G
|
rs1057523367
|
|
|
NM_001040142.2(SCN2A):c.2150-17A>C
|
|
|
|
NM_001040142.2(SCN2A):c.2277A>G (p.Pro759=)
|
|
|
|
NM_001040142.2(SCN2A):c.2346C>T (p.Pro782=)
|
rs750905569
|
|
|
NM_001040142.2(SCN2A):c.2352G>A (p.Thr784=)
|
rs369101059
|
|
|
NM_001040142.2(SCN2A):c.2388+20T>G
|
|
|
|
NM_001040142.2(SCN2A):c.2388+8T>C
|
|
|
|
NM_001040142.2(SCN2A):c.2389-7C>A
|
|
|
|
NM_001040142.2(SCN2A):c.2389-9C>T
|
|
|
|
NM_001040142.2(SCN2A):c.2403C>A (p.Ile801=)
|
rs572550754
|
|
|
NM_001040142.2(SCN2A):c.2406C>T (p.Phe802=)
|
|
|
|
NM_001040142.2(SCN2A):c.2409A>T (p.Thr803=)
|
|
|
|
NM_001040142.2(SCN2A):c.2451T>C (p.Tyr817=)
|
|
|
|
NM_001040142.2(SCN2A):c.24G>T (p.Pro8=)
|
|
|
|
NM_001040142.2(SCN2A):c.2517T>G (p.Gly839=)
|
rs745823892
|
|
|
NM_001040142.2(SCN2A):c.2562+11T>G
|
|
|
|
NM_001040142.2(SCN2A):c.2563-13C>T
|
rs1699472180
|
|
|
NM_001040142.2(SCN2A):c.2563-4C>T
|
|
|
|
NM_001040142.2(SCN2A):c.2568A>G (p.Arg856=)
|
|
|
|
NM_001040142.2(SCN2A):c.2574C>T (p.Phe858=)
|
rs748244795
|
|
|
NM_001040142.2(SCN2A):c.2598T>C (p.Thr866=)
|
rs1306050789
|
|
|
NM_001040142.2(SCN2A):c.2604T>C (p.Asn868=)
|
|
|
|
NM_001040142.2(SCN2A):c.2616G>A (p.Lys872=)
|
rs1574641438
|
|
|
NM_001040142.2(SCN2A):c.2637G>T (p.Gly879=)
|
|
|
|
NM_001040142.2(SCN2A):c.2641C>T (p.Leu881=)
|
|
|
|
NM_001040142.2(SCN2A):c.267+17G>A
|
rs1240522073
|
|
|
NM_001040142.2(SCN2A):c.268-16G>A
|
|
|
|
NM_001040142.2(SCN2A):c.268-9C>G
|
|
|
|
NM_001040142.2(SCN2A):c.2694C>G (p.Val898=)
|
rs1051662437
|
|
|
NM_001040142.2(SCN2A):c.2751T>C (p.Asp917=)
|
|
|
|
NM_001040142.2(SCN2A):c.2757A>G (p.Glu919=)
|
rs1057520595
|
|
|
NM_001040142.2(SCN2A):c.2787C>T (p.Phe929=)
|
|
|
|
NM_001040142.2(SCN2A):c.2826G>A (p.Glu942=)
|
|
|
|
NM_001040142.2(SCN2A):c.2838C>A (p.Thr946=)
|
rs777944503
|
|
|
NM_001040142.2(SCN2A):c.2838C>T (p.Thr946=)
|
|
|
|
NM_001040142.2(SCN2A):c.2856G>A (p.Glu952=)
|
|
|
|
NM_001040142.2(SCN2A):c.2886C>T (p.Val962=)
|
|
|
|
NM_001040142.2(SCN2A):c.2916A>G (p.Leu972=)
|
rs1574642369
|
|
|
NM_001040142.2(SCN2A):c.2919+7A>G
|
|
|
|
NM_001040142.2(SCN2A):c.2920-4T>G
|
|
|
|
NM_001040142.2(SCN2A):c.2920-7G>A
|
rs1574664160
|
|
|
NM_001040142.2(SCN2A):c.2928C>T (p.Asn976=)
|
rs2105336790
|
|
|
NM_001040142.2(SCN2A):c.2940C>G (p.Ala980=)
|
rs1574664203
|
|
|
NM_001040142.2(SCN2A):c.2943G>A (p.Leu981=)
|
rs2105336814
|
|
|
NM_001040142.2(SCN2A):c.2985T>C (p.Asp995=)
|
rs1336113495
|
|
|
NM_001040142.2(SCN2A):c.2991T>C (p.Asp997=)
|
|
|
|
NM_001040142.2(SCN2A):c.2994C>T (p.Asn998=)
|
|
|
|
NM_001040142.2(SCN2A):c.3027G>A (p.Arg1009=)
|
|
|
|
NM_001040142.2(SCN2A):c.3039A>G (p.Gly1013=)
|
|
|
|
NM_001040142.2(SCN2A):c.3042C>T (p.Ile1014=)
|
rs370200920
|
|
|
NM_001040142.2(SCN2A):c.3043G>A (p.Asp1015Asn)
|
rs747451714
|
|
|
NM_001040142.2(SCN2A):c.3091A>C (p.Arg1031=)
|
rs1700076343
|
|
|
NM_001040142.2(SCN2A):c.3123G>T (p.Pro1041=)
|
rs147576541
|
|
|
NM_001040142.2(SCN2A):c.315C>T (p.Ala105=)
|
|
|
|
NM_001040142.2(SCN2A):c.3192C>T (p.Asp1064=)
|
|
|
|
NM_001040142.2(SCN2A):c.3216T>C (p.Asn1072=)
|
rs1700082579
|
|
|
NM_001040142.2(SCN2A):c.3231C>A (p.Gly1077=)
|
rs775367520
|
|
|
NM_001040142.2(SCN2A):c.3246A>G (p.Val1082=)
|
|
|
|
NM_001040142.2(SCN2A):c.3297T>C (p.Pro1099=)
|
|
|
|
NM_001040142.2(SCN2A):c.3303C>T (p.Leu1101=)
|
rs1364091068
|
|
|
NM_001040142.2(SCN2A):c.3399+15_3399+18del
|
|
|
|
NM_001040142.2(SCN2A):c.3400-12A>G
|
|
|
|
NM_001040142.2(SCN2A):c.3400-13G>A
|
|
|
|
NM_001040142.2(SCN2A):c.3400-4T>C
|
rs1178159762
|
|
|
NM_001040142.2(SCN2A):c.3400-4dup
|
rs2105355679
|
|
|
NM_001040142.2(SCN2A):c.3432C>T (p.Ser1144=)
|
|
|
|
NM_001040142.2(SCN2A):c.3435G>T (p.Thr1145=)
|
rs1345931602
|
|
|
NM_001040142.2(SCN2A):c.3441T>C (p.Asp1147=)
|
|
|
|
NM_001040142.2(SCN2A):c.3446G>C (p.Gly1149Ala)
|
|
|
|
NM_001040142.2(SCN2A):c.3447A>G (p.Gly1149=)
|
|
|
|
NM_001040142.2(SCN2A):c.3456C>A (p.Ala1152=)
|
|
|
|
NM_001040142.2(SCN2A):c.3471T>A (p.Pro1157=)
|
|
|
|
NM_001040142.2(SCN2A):c.3474G>A (p.Glu1158=)
|
|
|
|
NM_001040142.2(SCN2A):c.3489A>G (p.Glu1163=)
|
|
|
|
NM_001040142.2(SCN2A):c.348C>T (p.Asn116=)
|
|
|
|
NM_001040142.2(SCN2A):c.3516A>G (p.Thr1172=)
|
|
|
|
NM_001040142.2(SCN2A):c.351T>C (p.Pro117=)
|
|
|
|
NM_001040142.2(SCN2A):c.3520+14T>C
|
|
|
|
NM_001040142.2(SCN2A):c.3520+18A>G
|
|
|
|
NM_001040142.2(SCN2A):c.3520+20A>G
|
|
|
|
NM_001040142.2(SCN2A):c.3521-10C>T
|
|
|
|
NM_001040142.2(SCN2A):c.3521-13C>T
|
|
|
|
NM_001040142.2(SCN2A):c.3530G>C (p.Arg1177Pro)
|
rs773202451
|
|
|
NM_001040142.2(SCN2A):c.3566G>A (p.Gly1189Asp)
|
rs540994733
|
|
|
NM_001040142.2(SCN2A):c.3600A>G (p.Thr1200=)
|
|
|
|
NM_001040142.2(SCN2A):c.3615G>T (p.Val1205=)
|
rs1700782112
|
|
|
NM_001040142.2(SCN2A):c.3621C>T (p.His1207=)
|
|
|
|
NM_001040142.2(SCN2A):c.3636C>A (p.Thr1212=)
|
|
|
|
NM_001040142.2(SCN2A):c.3657G>A (p.Leu1219=)
|
|
|
|
NM_001040142.2(SCN2A):c.3675+13T>C
|
rs2105359866
|
|
|
NM_001040142.2(SCN2A):c.3675+19A>C
|
|
|
|
NM_001040142.2(SCN2A):c.3676-19A>G
|
|
|
|
NM_001040142.2(SCN2A):c.3676-4A>G
|
|
|
|
NM_001040142.2(SCN2A):c.3690A>T (p.Ile1230=)
|
|
|
|
NM_001040142.2(SCN2A):c.3696T>C (p.Ile1232=)
|
|
|
|
NM_001040142.2(SCN2A):c.36C>G (p.Asp12Glu)
|
rs1334730213
|
|
|
NM_001040142.2(SCN2A):c.36C>T (p.Asp12=)
|
rs1334730213
|
|
|
NM_001040142.2(SCN2A):c.3702G>A (p.Gln1234=)
|
rs1198199936
|
|
|
NM_001040142.2(SCN2A):c.3732T>C (p.Tyr1244=)
|
|
|
|
NM_001040142.2(SCN2A):c.376T>C (p.Leu126=)
|
rs2106151267
|
|
|
NM_001040142.2(SCN2A):c.3810T>C (p.Phe1270=)
|
rs1230638602
|
|
|
NM_001040142.2(SCN2A):c.3819C>T (p.Ala1273=)
|
rs2105365337
|
|
|
NM_001040142.2(SCN2A):c.381A>G (p.Val127=)
|
rs2106151272
|
|
|
NM_001040142.2(SCN2A):c.3831A>G (p.Leu1277=)
|
|
|
|
NM_001040142.2(SCN2A):c.3846T>A (p.Val1282=)
|
|
|
|
NM_001040142.2(SCN2A):c.3849+13del
|
|
|
|
NM_001040142.2(SCN2A):c.3849+15del
|
|
|
|
NM_001040142.2(SCN2A):c.3849+19G>A
|
|
|
|
NM_001040142.2(SCN2A):c.3849+19G>C
|
|
|
|
NM_001040142.2(SCN2A):c.386+18G>A
|
|
|
|
NM_001040142.2(SCN2A):c.3861T>A (p.Val1287=)
|
|
|
|
NM_001040142.2(SCN2A):c.3861T>C (p.Val1287=)
|
|
|
|
NM_001040142.2(SCN2A):c.3861T>G (p.Val1287=)
|
rs1701137260
|
|
|
NM_001040142.2(SCN2A):c.387-11C>T
|
|
|
|
NM_001040142.2(SCN2A):c.3870T>C (p.Thr1290=)
|
rs1225687118
|
|
|
NM_001040142.2(SCN2A):c.3939A>G (p.Pro1313=)
|
rs1553593075
|
|
|
NM_001040142.2(SCN2A):c.3940C>T (p.Leu1314=)
|
rs1574712123
|
|
|
NM_001040142.2(SCN2A):c.3954C>T (p.Ser1318=)
|
rs139507841
|
|
|
NM_001040142.2(SCN2A):c.3972+9G>A
|
rs1261133567
|
|
|
NM_001040142.2(SCN2A):c.3972+9G>T
|
rs1261133567
|
|
|
NM_001040142.2(SCN2A):c.3973-14T>A
|
|
|
|
NM_001040142.2(SCN2A):c.3975T>G (p.Val1325=)
|
rs1553593569
|
|
|
NM_001040142.2(SCN2A):c.3981A>G (p.Val1327=)
|
|
|
|
NM_001040142.2(SCN2A):c.402C>A (p.Leu134=)
|
|
|
|
NM_001040142.2(SCN2A):c.402C>T (p.Leu134=)
|
|
|
|
NM_001040142.2(SCN2A):c.4045C>T (p.Leu1349=)
|
rs946393942
|
|
|
NM_001040142.2(SCN2A):c.405T>C (p.Ile135=)
|
rs1225501159
|
|
|
NM_001040142.2(SCN2A):c.411C>T (p.Cys137=)
|
rs1253966876
|
|
|
NM_001040142.2(SCN2A):c.4140C>G (p.Val1380=)
|
|
|
|
NM_001040142.2(SCN2A):c.4187C>T (p.Ala1396Val)
|
rs914316483
|
|
|
NM_001040142.2(SCN2A):c.4224A>G (p.Val1408=)
|
rs1060504830
|
|
|
NM_001040142.2(SCN2A):c.4245A>C (p.Leu1415=)
|
|
|
|
NM_001040142.2(SCN2A):c.4254+13T>C
|
|
|
|
NM_001040142.2(SCN2A):c.4254+15T>C
|
|
|
|
NM_001040142.2(SCN2A):c.4255-4A>G
|
|
|
|
NM_001040142.2(SCN2A):c.4260G>A (p.Thr1420=)
|
rs138241682
|
|
|
NM_001040142.2(SCN2A):c.4308+10G>T
|
rs2105378539
|
|
|
NM_001040142.2(SCN2A):c.4309-11A>G
|
|
|
|
NM_001040142.2(SCN2A):c.4311A>G (p.Val1437=)
|
|
|
|
NM_001040142.2(SCN2A):c.4320A>G (p.Gln1440=)
|
|
|
|
NM_001040142.2(SCN2A):c.4329T>C (p.Tyr1443=)
|
rs2105384580
|
|
|
NM_001040142.2(SCN2A):c.432A>G (p.Val144=)
|
rs757533588
|
|
|
NM_001040142.2(SCN2A):c.4341G>T (p.Leu1447=)
|
rs2105384602
|
|
|
NM_001040142.2(SCN2A):c.4353T>G (p.Leu1451=)
|
rs2105384625
|
|
|
NM_001040142.2(SCN2A):c.4383A>T (p.Ser1461=)
|
|
|
|
NM_001040142.2(SCN2A):c.43C>T (p.Arg15Cys)
|
|
|
|
NM_001040142.2(SCN2A):c.4404C>T (p.Phe1468=)
|
rs2105384719
|
|
|
NM_001040142.2(SCN2A):c.4446+11T>C
|
|
|
|
NM_001040142.2(SCN2A):c.4446+15A>G
|
|
|
|
NM_001040142.2(SCN2A):c.4446+16C>T
|
|
|
|
NM_001040142.2(SCN2A):c.4446+18T>A
|
|
|
|
NM_001040142.2(SCN2A):c.4447-20T>G
|
rs2105385618
|
|
|
NM_001040142.2(SCN2A):c.4447-6C>T
|
rs1173151782
|
|
|
NM_001040142.2(SCN2A):c.4491C>T (p.Tyr1497=)
|
rs1372606065
|
|
|
NM_001040142.2(SCN2A):c.44G>A (p.Arg15His)
|
|
|
|
NM_001040142.2(SCN2A):c.4515T>C (p.Gly1505=)
|
|
|
|
NM_001040142.2(SCN2A):c.4545A>T (p.Arg1515=)
|
|
|
|
NM_001040142.2(SCN2A):c.4551+12A>G
|
|
|
|
NM_001040142.2(SCN2A):c.4551+19C>A
|
rs753272771
|
|
|
NM_001040142.2(SCN2A):c.4551+20A>G
|
|
|
|
NM_001040142.2(SCN2A):c.4551+8T>G
|
rs1064797263
|
|
|
NM_001040142.2(SCN2A):c.4552-10T>C
|
|
|
|
NM_001040142.2(SCN2A):c.4552-12T>C
|
|
|
|
NM_001040142.2(SCN2A):c.4552-14del
|
|
|
|
NM_001040142.2(SCN2A):c.4552-15T>C
|
|
|
|
NM_001040142.2(SCN2A):c.4552-16A>G
|
|
|
|
NM_001040142.2(SCN2A):c.4552-4C>A
|
|
|
|
NM_001040142.2(SCN2A):c.4552-5T>C
|
|
|
|
NM_001040142.2(SCN2A):c.4557A>G (p.Lys1519=)
|
rs1574746483
|
|
|
NM_001040142.2(SCN2A):c.4572C>A (p.Val1524=)
|
|
|
|
NM_001040142.2(SCN2A):c.4572C>T (p.Val1524=)
|
rs776254144
|
|
|
NM_001040142.2(SCN2A):c.4575T>C (p.Phe1525=)
|
|
|
|
NM_001040142.2(SCN2A):c.4596C>A (p.Val1532=)
|
|
|
|
NM_001040142.2(SCN2A):c.4596C>G (p.Val1532=)
|
rs371690453
|
|
|
NM_001040142.2(SCN2A):c.4656C>G (p.Thr1552=)
|
rs765041838
|
|
|
NM_001040142.2(SCN2A):c.4659T>C (p.Asp1553=)
|
|
|
|
NM_001040142.2(SCN2A):c.4686T>A (p.Ile1562=)
|
|
|
|
NM_001040142.2(SCN2A):c.4719G>C (p.Leu1573=)
|
|
|
|
NM_001040142.2(SCN2A):c.4738C>T (p.Leu1580=)
|
|
|
|
NM_001040142.2(SCN2A):c.474G>A (p.Val158=)
|
|
|
|
NM_001040142.2(SCN2A):c.477-15G>A
|
|
|
|
NM_001040142.2(SCN2A):c.477-15G>T
|
rs1475312967
|
|
|
NM_001040142.2(SCN2A):c.477-5C>T
|
rs2105243234
|
|
|
NM_001040142.2(SCN2A):c.4779A>T (p.Gly1593=)
|
|
|
|
NM_001040142.2(SCN2A):c.4797T>C (p.Phe1599=)
|
|
|
|
NM_001040142.2(SCN2A):c.4822+8G>A
|
rs2105398667
|
|
|
NM_001040142.2(SCN2A):c.4823-15G>T
|
rs375524288
|
|
|
NM_001040142.2(SCN2A):c.4823-6C>A
|
|
|
|
NM_001040142.2(SCN2A):c.4836T>A (p.Ala1612=)
|
rs144133411
|
|
|
NM_001040142.2(SCN2A):c.483C>G (p.Thr161=)
|
|
|
|
NM_001040142.2(SCN2A):c.4842G>A (p.Leu1614=)
|
|
|
|
NM_001040142.2(SCN2A):c.4842G>C (p.Leu1614=)
|
|
|
|
NM_001040142.2(SCN2A):c.4872G>C (p.Leu1624=)
|
rs1702002389
|
|
|
NM_001040142.2(SCN2A):c.4935G>A (p.Gly1645=)
|
|
|
|
NM_001040142.2(SCN2A):c.4938C>T (p.Ile1646=)
|
|
|
|
NM_001040142.2(SCN2A):c.4956T>A (p.Ala1652=)
|
|
|
|
NM_001040142.2(SCN2A):c.5007G>T (p.Leu1669=)
|
rs1423260538
|
|
|
NM_001040142.2(SCN2A):c.5016C>T (p.Phe1672=)
|
|
|
|
NM_001040142.2(SCN2A):c.5070G>A (p.Gly1690=)
|
|
|
|
NM_001040142.2(SCN2A):c.5073C>T (p.Ile1691=)
|
rs1702013086
|
|
|
NM_001040142.2(SCN2A):c.5097C>T (p.Thr1699=)
|
|
|
|
NM_001040142.2(SCN2A):c.5136C>A (p.Thr1712=)
|
|
|
|
NM_001040142.2(SCN2A):c.5163A>T (p.Ala1721=)
|
|
|
|
NM_001040142.2(SCN2A):c.5169T>C (p.Ile1723=)
|
|
|
|
NM_001040142.2(SCN2A):c.5184T>A (p.Pro1728=)
|
|
|
|
NM_001040142.2(SCN2A):c.5187A>C (p.Pro1729=)
|
|
|
|
NM_001040142.2(SCN2A):c.5187A>T (p.Pro1729=)
|
|
|
|
NM_001040142.2(SCN2A):c.5190C>T (p.Asp1730=)
|
rs757159972
|
|
|
NM_001040142.2(SCN2A):c.5271C>G (p.Val1757=)
|
rs2105402892
|
|
|
NM_001040142.2(SCN2A):c.5292C>T (p.Phe1764=)
|
|
|
|
NM_001040142.2(SCN2A):c.5304G>A (p.Val1768=)
|
|
|
|
NM_001040142.2(SCN2A):c.5322C>T (p.Val1774=)
|
|
|
|
NM_001040142.2(SCN2A):c.5346T>C (p.Ala1782=)
|
|
|
|
NM_001040142.2(SCN2A):c.534C>T (p.Gly178=)
|
rs1559351963
|
|
|
NM_001040142.2(SCN2A):c.5421C>T (p.Pro1807=)
|
|
|
|
NM_001040142.2(SCN2A):c.5466A>G (p.Ala1822=)
|
|
|
|
NM_001040142.2(SCN2A):c.546A>G (p.Glu182=)
|
|
|
|
NM_001040142.2(SCN2A):c.5481T>G (p.Pro1827=)
|
|
|
|
NM_001040142.2(SCN2A):c.549T>C (p.Asp183=)
|
rs1237372557
|
|
|
NM_001040142.2(SCN2A):c.5514G>A (p.Gln1838=)
|
rs547095921
|
|
|
NM_001040142.2(SCN2A):c.5517C>A (p.Leu1839=)
|
rs148424455
|
|
|
NM_001040142.2(SCN2A):c.555A>G (p.Thr185=)
|
rs1485827292
|
|
|
NM_001040142.2(SCN2A):c.555A>T (p.Thr185=)
|
|
|
|
NM_001040142.2(SCN2A):c.5592T>C (p.Arg1864=)
|
|
|
|
NM_001040142.2(SCN2A):c.5619T>C (p.Asp1873=)
|
|
|
|
NM_001040142.2(SCN2A):c.5644C>A (p.Arg1882=)
|
|
|
|
NM_001040142.2(SCN2A):c.5682G>A (p.Glu1894=)
|
|
|
|
NM_001040142.2(SCN2A):c.5697G>T (p.Thr1899=)
|
rs746574956
|
|
|
NM_001040142.2(SCN2A):c.570A>G (p.Pro190=)
|
|
|
|
NM_001040142.2(SCN2A):c.5721G>T (p.Val1907=)
|
rs1060504829
|
|
|
NM_001040142.2(SCN2A):c.5742G>A (p.Arg1914=)
|
|
|
|
NM_001040142.2(SCN2A):c.5745T>C (p.Ala1915=)
|
rs1020615406
|
|
|
NM_001040142.2(SCN2A):c.5769A>G (p.Gln1923=)
|
|
|
|
NM_001040142.2(SCN2A):c.5772A>G (p.Lys1924=)
|
|
|
|
NM_001040142.2(SCN2A):c.5778A>G (p.Lys1926=)
|
|
|
|
NM_001040142.2(SCN2A):c.5805C>T (p.Asp1935=)
|
|
|
|
NM_001040142.2(SCN2A):c.580T>C (p.Leu194=)
|
rs1015952309
|
|
|
NM_001040142.2(SCN2A):c.5832C>G (p.Pro1944=)
|
rs1268874177
|
|
|
NM_001040142.2(SCN2A):c.5835C>T (p.Ile1945=)
|
rs972057381
|
|
|
NM_001040142.2(SCN2A):c.5844T>C (p.Asp1948=)
|
|
|
|
NM_001040142.2(SCN2A):c.5862G>A (p.Leu1954=)
|
|
|
|
NM_001040142.2(SCN2A):c.5868G>A (p.Glu1956=)
|
|
|
|
NM_001040142.2(SCN2A):c.5898G>A (p.Thr1966=)
|
rs761947985
|
|
|
NM_001040142.2(SCN2A):c.5901T>G (p.Pro1967=)
|
|
|
|
NM_001040142.2(SCN2A):c.591A>G (p.Thr197=)
|
|
|
|
NM_001040142.2(SCN2A):c.5928T>C (p.Asp1976=)
|
rs755379418
|
|
|
NM_001040142.2(SCN2A):c.5955A>G (p.Lys1985=)
|
rs572474239
|
|
|
NM_001040142.2(SCN2A):c.6009T>C (p.Ser2003=)
|
rs748224005
|
|
|
NM_001040142.2(SCN2A):c.6015G>A (p.Lys2005=)
|
rs1301968587
|
|
|
NM_001040142.2(SCN2A):c.605+14_605+15insTA
|
|
|
|
NM_001040142.2(SCN2A):c.605+15A>T
|
|
|
|
NM_001040142.2(SCN2A):c.605+16C>T
|
|
|
|
NM_001040142.2(SCN2A):c.606-13C>A
|
|
|
|
NM_001040142.2(SCN2A):c.606-13_606-12insT
|
rs2105244802
|
|
|
NM_001040142.2(SCN2A):c.606-18G>A
|
|
|
|
NM_001040142.2(SCN2A):c.606-6_606-4del
|
rs2105244825
|
|
|
NM_001040142.2(SCN2A):c.606-7A>T
|
|
|
|
NM_001040142.2(SCN2A):c.606-8del
|
rs1697308967
|
|
|
NM_001040142.2(SCN2A):c.636T>C (p.Asn212=)
|
rs2105244918
|
|
|
NM_001040142.2(SCN2A):c.645G>A (p.Ala215=)
|
rs370724112
|
|
|
NM_001040142.2(SCN2A):c.646T>C (p.Leu216=)
|
|
|
|
NM_001040142.2(SCN2A):c.654A>G (p.Thr218=)
|
rs2105244995
|
|
|
NM_001040142.2(SCN2A):c.666C>T (p.Leu222=)
|
rs2105245029
|
|
|
NM_001040142.2(SCN2A):c.681A>G (p.Thr227=)
|
rs2228987
|
|
|
NM_001040142.2(SCN2A):c.684T>A (p.Ile228=)
|
rs2105245070
|
|
|
NM_001040142.2(SCN2A):c.687A>G (p.Ser229=)
|
rs779972161
|
|
|
NM_001040142.2(SCN2A):c.697+11G>T
|
|
|
|
NM_001040142.2(SCN2A):c.698-14G>T
|
rs1697359238
|
|
|
NM_001040142.2(SCN2A):c.780C>T (p.Ser260=)
|
|
|
|
NM_001040142.2(SCN2A):c.792A>G (p.Leu264=)
|
|
|
|
NM_001040142.2(SCN2A):c.795A>C (p.Ile265=)
|
|
|
|
NM_001040142.2(SCN2A):c.816C>A (p.Gly272=)
|
rs2105247434
|
|
|
NM_001040142.2(SCN2A):c.81A>G (p.Gln27=)
|
rs1162322343
|
|
|
NM_001040142.2(SCN2A):c.876C>A (p.Ile292=)
|
|
|
|
NM_001040142.2(SCN2A):c.909T>C (p.Asn303=)
|
rs756068683
|
|
|
NM_001040142.2(SCN2A):c.916A>T (p.Thr306Ser)
|
rs370114048
|
|
|
NM_001040142.2(SCN2A):c.924T>C (p.Asn308=)
|
|
|
|
NM_001040142.2(SCN2A):c.966T>C (p.Asp322=)
|
|
|
|
NM_001040142.2(SCN2A):c.970+11C>G
|
|
|
|
NM_001040142.2(SCN2A):c.970+15A>G
|
|
|
|
NM_001040142.2(SCN2A):c.970+20C>A
|
|
|
|
NM_001040142.2(SCN2A):c.970+20C>G
|
rs190639791
|
|
|
NM_001040142.2(SCN2A):c.970+8A>C
|
|
|
|
NM_001040142.2(SCN2A):c.970+8A>G
|
|
|
|
NM_001040142.2(SCN2A):c.971-10C>G
|
|
|
|
NM_001040142.2(SCN2A):c.971-20A>G
|
|
|
|
NM_001040142.2(SCN2A):c.971-6A>C
|
|
|
|
NM_001040142.2(SCN2A):c.972T>C (p.Ser324=)
|
|
|
|
NM_001099922.3(ALG13):c.1002C>T (p.Asp334=)
|
|
|
|
NM_001099922.3(ALG13):c.1005+10T>A
|
|
|
|
NM_001099922.3(ALG13):c.1005+13G>A
|
|
|
|
NM_001099922.3(ALG13):c.1005+14T>C
|
|
|
|
NM_001099922.3(ALG13):c.1006-16G>A
|
|
|
|
NM_001099922.3(ALG13):c.1006-18C>G
|
|
|
|
NM_001099922.3(ALG13):c.1006-19T>A
|
|
|
|
NM_001099922.3(ALG13):c.1019A>G (p.Tyr340Cys)
|
|
|
|
NM_001099922.3(ALG13):c.1027A>T (p.Ser343Cys)
|
|
|
|
NM_001099922.3(ALG13):c.1087+10G>A
|
|
|
|
NM_001099922.3(ALG13):c.1087+12C>T
|
|
|
|
NM_001099922.3(ALG13):c.1087+9A>C
|
|
|
|
NM_001099922.3(ALG13):c.1088-12T>A
|
|
|
|
NM_001099922.3(ALG13):c.1088-14C>T
|
|
|
|
NM_001099922.3(ALG13):c.1088-16A>T
|
|
|
|
NM_001099922.3(ALG13):c.1098C>T (p.Tyr366=)
|
|
|
|
NM_001099922.3(ALG13):c.1110T>C (p.Tyr370=)
|
|
|
|
NM_001099922.3(ALG13):c.1125T>C (p.Val375=)
|
|
|
|
NM_001099922.3(ALG13):c.1167A>G (p.Arg389=)
|
|
|
|
NM_001099922.3(ALG13):c.1176T>G (p.Ser392=)
|
|
|
|
NM_001099922.3(ALG13):c.1183A>C (p.Asn395His)
|
rs1602694279
|
|
|
NM_001099922.3(ALG13):c.1185C>T (p.Asn395=)
|
|
|
|
NM_001099922.3(ALG13):c.1194T>C (p.Asn398=)
|
|
|
|
NM_001099922.3(ALG13):c.1221T>C (p.His407=)
|
rs1602694489
|
|
|
NM_001099922.3(ALG13):c.1245G>A (p.Gln415=)
|
|
|
|
NM_001099922.3(ALG13):c.1250+14A>G
|
|
|
|
NM_001099922.3(ALG13):c.1251-18C>T
|
|
|
|
NM_001099922.3(ALG13):c.1251-4T>C
|
rs1602705501
|
|
|
NM_001099922.3(ALG13):c.1260G>A (p.Glu420=)
|
|
|
|
NM_001099922.3(ALG13):c.126T>A (p.Gly42=)
|
|
|
|
NM_001099922.3(ALG13):c.12G>A (p.Val4=)
|
rs781450458
|
|
|
NM_001099922.3(ALG13):c.1326+12T>C
|
|
|
|
NM_001099922.3(ALG13):c.1326+15A>G
|
|
|
|
NM_001099922.3(ALG13):c.1326+22del
|
|
|
|
NM_001099922.3(ALG13):c.135G>A (p.Thr45=)
|
|
|
|
NM_001099922.3(ALG13):c.135G>C (p.Thr45=)
|
|
|
|
NM_001099922.3(ALG13):c.1365G>A (p.Lys455=)
|
|
|
|
NM_001099922.3(ALG13):c.1435+12T>G
|
|
|
|
NM_001099922.3(ALG13):c.1435+15A>G
|
|
|
|
NM_001099922.3(ALG13):c.1435+16C>G
|
rs2148153415
|
|
|
NM_001099922.3(ALG13):c.1435+19G>C
|
|
|
|
NM_001099922.3(ALG13):c.1436-11dup
|
|
|
|
NM_001099922.3(ALG13):c.1436-19C>A
|
|
|
|
NM_001099922.3(ALG13):c.1436-5A>G
|
|
|
|
NM_001099922.3(ALG13):c.1436-8T>C
|
|
|
|
NM_001099922.3(ALG13):c.1443A>G (p.Gln481=)
|
rs374692571
|
|
|
NM_001099922.3(ALG13):c.1449T>C (p.Ser483=)
|
|
|
|
NM_001099922.3(ALG13):c.1461G>A (p.Glu487=)
|
|
|
|
NM_001099922.3(ALG13):c.1473A>G (p.Arg491=)
|
rs1941545350
|
|
|
NM_001099922.3(ALG13):c.1500+12del
|
|
|
|
NM_001099922.3(ALG13):c.1500+13T>G
|
|
|
|
NM_001099922.3(ALG13):c.1501-12T>C
|
|
|
|
NM_001099922.3(ALG13):c.1501-18dup
|
|
|
|
NM_001099922.3(ALG13):c.1501-20T>C
|
|
|
|
NM_001099922.3(ALG13):c.1527T>C (p.Tyr509=)
|
|
|
|
NM_001099922.3(ALG13):c.1530T>C (p.Tyr510=)
|
|
|
|
NM_001099922.3(ALG13):c.1536T>C (p.Ala512=)
|
|
|
|
NM_001099922.3(ALG13):c.156T>C (p.Ser52=)
|
|
|
|
NM_001099922.3(ALG13):c.1590A>G (p.Glu530=)
|
|
|
|
NM_001099922.3(ALG13):c.1601+17T>G
|
|
|
|
NM_001099922.3(ALG13):c.1601+18T>G
|
|
|
|
NM_001099922.3(ALG13):c.1601+9A>G
|
|
|
|
NM_001099922.3(ALG13):c.1602-15C>A
|
|
|
|
NM_001099922.3(ALG13):c.1602-15C>T
|
|
|
|
NM_001099922.3(ALG13):c.1629A>G (p.Lys543=)
|
|
|
|
NM_001099922.3(ALG13):c.1632A>C (p.Pro544=)
|
|
|
|
NM_001099922.3(ALG13):c.1632A>G (p.Pro544=)
|
|
|
|
NM_001099922.3(ALG13):c.1638C>G (p.Thr546=)
|
rs1602730496
|
|
|
NM_001099922.3(ALG13):c.1638C>T (p.Thr546=)
|
rs1602730496
|
|
|
NM_001099922.3(ALG13):c.165G>A (p.Ser55=)
|
|
|
|
NM_001099922.3(ALG13):c.1674C>T (p.Pro558=)
|
rs2148191123
|
|
|
NM_001099922.3(ALG13):c.1695C>T (p.Tyr565=)
|
|
|
|
NM_001099922.3(ALG13):c.1707T>C (p.Pro569=)
|
rs1602730890
|
|
|
NM_001099922.3(ALG13):c.1722G>A (p.Pro574=)
|
|
|
|
NM_001099922.3(ALG13):c.1729+15G>A
|
|
|
|
NM_001099922.3(ALG13):c.1758G>A (p.Gln586=)
|
|
|
|
NM_001099922.3(ALG13):c.1803T>A (p.Thr601=)
|
|
|
|
NM_001099922.3(ALG13):c.1805T>C (p.Met602Thr)
|
|
|
|
NM_001099922.3(ALG13):c.1824C>T (p.Asp608=)
|
rs761077008
|
|
|
NM_001099922.3(ALG13):c.1830C>G (p.Leu610=)
|
rs771232900
|
|
|
NM_001099922.3(ALG13):c.1833C>T (p.Leu611=)
|
|
|
|
NM_001099922.3(ALG13):c.1845G>A (p.Leu615=)
|
|
|
|
NM_001099922.3(ALG13):c.1879A>G (p.Met627Val)
|
|
|
|
NM_001099922.3(ALG13):c.1938T>C (p.His646=)
|
|
|
|
NM_001099922.3(ALG13):c.1941A>G (p.Pro647=)
|
rs1942135193
|
|
|
NM_001099922.3(ALG13):c.1968G>C (p.Gly656=)
|
|
|
|
NM_001099922.3(ALG13):c.1974C>T (p.Pro658=)
|
|
|
|
NM_001099922.3(ALG13):c.1976+11G>T
|
|
|
|
NM_001099922.3(ALG13):c.1976+14A>G
|
|
|
|
NM_001099922.3(ALG13):c.1976+16A>G
|
|
|
|
NM_001099922.3(ALG13):c.1976+20G>A
|
rs1556507692
|
|
|
NM_001099922.3(ALG13):c.1976+20G>T
|
|
|
|
NM_001099922.3(ALG13):c.1976+8A>G
|
|
|
|
NM_001099922.3(ALG13):c.1977-17T>A
|
|
|
|
NM_001099922.3(ALG13):c.1977G>A (p.Arg659=)
|
rs1942182184
|
|
|
NM_001099922.3(ALG13):c.1983A>G (p.Ser661=)
|
|
|
|
NM_001099922.3(ALG13):c.1983A>T (p.Ser661=)
|
rs1241055923
|
|
|
NM_001099922.3(ALG13):c.1989G>A (p.Arg663=)
|
|
|
|
NM_001099922.3(ALG13):c.2052G>A (p.Arg684=)
|
|
|
|
NM_001099922.3(ALG13):c.2090+10G>T
|
|
|
|
NM_001099922.3(ALG13):c.2090+15G>A
|
|
|
|
NM_001099922.3(ALG13):c.2090+20_2090+23del
|
|
|
|
NM_001099922.3(ALG13):c.2090+22_2090+39del
|
|
|
|
NM_001099922.3(ALG13):c.2090+9T>C
|
|
|
|
NM_001099922.3(ALG13):c.2091-15T>C
|
rs2148227986
|
|
|
NM_001099922.3(ALG13):c.2091-17T>C
|
|
|
|
NM_001099922.3(ALG13):c.2091-17T>G
|
|
|
|
NM_001099922.3(ALG13):c.2091-18T>C
|
|
|
|
NM_001099922.3(ALG13):c.2091-4T>G
|
|
|
|
NM_001099922.3(ALG13):c.2091-7A>T
|
rs2148228043
|
|
|
NM_001099922.3(ALG13):c.2091-8C>G
|
rs939425312
|
|
|
NM_001099922.3(ALG13):c.2108A>G (p.His703Arg)
|
|
|
|
NM_001099922.3(ALG13):c.2124T>C (p.Cys708=)
|
|
|
|
NM_001099922.3(ALG13):c.2133G>A (p.Lys711=)
|
|
|
|
NM_001099922.3(ALG13):c.2139C>A (p.Ser713=)
|
|
|
|
NM_001099922.3(ALG13):c.2142G>A (p.Gln714=)
|
rs1602749741
|
|
|
NM_001099922.3(ALG13):c.2191A>G (p.Thr731Ala)
|
|
|
|
NM_001099922.3(ALG13):c.2193T>G (p.Thr731=)
|
|
|
|
NM_001099922.3(ALG13):c.2196T>A (p.Ile732=)
|
|
|
|
NM_001099922.3(ALG13):c.2199T>A (p.Thr733=)
|
|
|
|
NM_001099922.3(ALG13):c.21C>T (p.Thr7=)
|
rs1446370125
|
|
|
NM_001099922.3(ALG13):c.2205T>C (p.Tyr735=)
|
rs1060503802
|
|
|
NM_001099922.3(ALG13):c.2247+13A>G
|
|
|
|
NM_001099922.3(ALG13):c.2247+16C>T
|
|
|
|
NM_001099922.3(ALG13):c.2247+20A>G
|
|
|
|
NM_001099922.3(ALG13):c.2248-13C>G
|
|
|
|
NM_001099922.3(ALG13):c.2248-19G>A
|
|
|
|
NM_001099922.3(ALG13):c.2262C>T (p.Pro754=)
|
|
|
|
NM_001099922.3(ALG13):c.2265T>A (p.Ser755=)
|
|
|
|
NM_001099922.3(ALG13):c.2265T>C (p.Ser755=)
|
|
|
|
NM_001099922.3(ALG13):c.2280T>C (p.Ala760=)
|
rs753759357
|
|
|
NM_001099922.3(ALG13):c.2283T>C (p.Thr761=)
|
|
|
|
NM_001099922.3(ALG13):c.2286A>G (p.Ser762=)
|
|
|
|
NM_001099922.3(ALG13):c.2304G>A (p.Arg768=)
|
|
|
|
NM_001099922.3(ALG13):c.2305C>T (p.Arg769Trp)
|
|
|
|
NM_001099922.3(ALG13):c.2328G>A (p.Gln776=)
|
|
|
|
NM_001099922.3(ALG13):c.2358G>T (p.Gln786His)
|
|
|
|
NM_001099922.3(ALG13):c.2368+13_2368+14del
|
rs1942292917
|
|
|
NM_001099922.3(ALG13):c.2368+20A>G
|
|
|
|
NM_001099922.3(ALG13):c.2369-15G>A
|
|
|
|
NM_001099922.3(ALG13):c.2369-15_2369-11del
|
|
|
|
NM_001099922.3(ALG13):c.2369-17T>C
|
|
|
|
NM_001099922.3(ALG13):c.2369-20G>A
|
|
|
|
NM_001099922.3(ALG13):c.2373A>G (p.Arg791=)
|
rs1006542504
|
|
|
NM_001099922.3(ALG13):c.2373A>T (p.Arg791=)
|
rs1006542504
|
|
|
NM_001099922.3(ALG13):c.2401+20G>C
|
|
|
|
NM_001099922.3(ALG13):c.2401+9G>A
|
|
|
|
NM_001099922.3(ALG13):c.2402-11A>G
|
|
|
|
NM_001099922.3(ALG13):c.2402-14G>T
|
|
|
|
NM_001099922.3(ALG13):c.2402-20A>G
|
|
|
|
NM_001099922.3(ALG13):c.2402-6C>T
|
|
|
|
NM_001099922.3(ALG13):c.2415A>G (p.Glu805=)
|
|
|
|
NM_001099922.3(ALG13):c.2427T>C (p.Val809=)
|
|
|
|
NM_001099922.3(ALG13):c.2436A>G (p.Thr812=)
|
|
|
|
NM_001099922.3(ALG13):c.244+12T>C
|
|
|
|
NM_001099922.3(ALG13):c.244+15G>C
|
rs1933641836
|
|
|
NM_001099922.3(ALG13):c.244+20T>G
|
|
|
|
NM_001099922.3(ALG13):c.2442A>G (p.Ala814=)
|
|
|
|
NM_001099922.3(ALG13):c.2448A>G (p.Thr816=)
|
rs2148264402
|
|
|
NM_001099922.3(ALG13):c.245-10A>G
|
|
|
|
NM_001099922.3(ALG13):c.245-12T>A
|
rs773672059
|
|
|
NM_001099922.3(ALG13):c.245-17T>C
|
rs1934554117
|
|
|
NM_001099922.3(ALG13):c.245-7T>C
|
|
|
|
NM_001099922.3(ALG13):c.245-8A>G
|
|
|
|
NM_001099922.3(ALG13):c.2457+13T>A
|
|
|
|
NM_001099922.3(ALG13):c.2457+14A>G
|
|
|
|
NM_001099922.3(ALG13):c.2457+18G>C
|
|
|
|
NM_001099922.3(ALG13):c.2458-10T>G
|
|
|
|
NM_001099922.3(ALG13):c.2458-4A>G
|
|
|
|
NM_001099922.3(ALG13):c.2500A>G (p.Thr834Ala)
|
rs1943107956
|
|
|
NM_001099922.3(ALG13):c.2520C>T (p.Tyr840=)
|
rs1943109899
|
|
|
NM_001099922.3(ALG13):c.2523C>A (p.Pro841=)
|
|
|
|
NM_001099922.3(ALG13):c.2523C>G (p.Pro841=)
|
rs1229717685
|
|
|
NM_001099922.3(ALG13):c.2529+12A>T
|
|
|
|
NM_001099922.3(ALG13):c.2530-11C>T
|
|
|
|
NM_001099922.3(ALG13):c.2530-15C>T
|
|
|
|
NM_001099922.3(ALG13):c.2530-16T>C
|
|
|
|
NM_001099922.3(ALG13):c.2531T>C (p.Met844Thr)
|
rs2148330955
|
|
|
NM_001099922.3(ALG13):c.2547A>T (p.Ala849=)
|
|
|
|
NM_001099922.3(ALG13):c.2550A>C (p.Ala850=)
|
|
|
|
NM_001099922.3(ALG13):c.2598C>T (p.Asn866=)
|
|
|
|
NM_001099922.3(ALG13):c.261G>A (p.Leu87=)
|
|
|
|
NM_001099922.3(ALG13):c.2670A>G (p.Val890=)
|
|
|
|
NM_001099922.3(ALG13):c.268C>T (p.Leu90=)
|
|
|
|
NM_001099922.3(ALG13):c.2695+15G>A
|
|
|
|
NM_001099922.3(ALG13):c.2695+16A>C
|
|
|
|
NM_001099922.3(ALG13):c.2695+9T>C
|
|
|
|
NM_001099922.3(ALG13):c.2696-19T>C
|
rs2148402568
|
|
|
NM_001099922.3(ALG13):c.2705C>T (p.Ser902Leu)
|
|
|
|
NM_001099922.3(ALG13):c.2748C>G (p.Ala916=)
|
|
|
|
NM_001099922.3(ALG13):c.2753T>C (p.Leu918Pro)
|
|
|
|
NM_001099922.3(ALG13):c.2754ACC[10] (p.Pro941_Pro945del)
|
rs750710267
|
|
|
NM_001099922.3(ALG13):c.2754ACC[11] (p.Pro942_Pro945del)
|
rs750710267
|
|
|
NM_001099922.3(ALG13):c.2754ACC[12] (p.Pro943_Pro945del)
|
rs750710267
|
|
|
NM_001099922.3(ALG13):c.2754ACC[14] (p.Pro945del)
|
rs750710267
|
|
|
NM_001099922.3(ALG13):c.2754ACC[16] (p.Pro945dup)
|
rs750710267
|
|
|
NM_001099922.3(ALG13):c.2754ACC[18] (p.Pro943_Pro945dup)
|
rs750710267
|
|
|
NM_001099922.3(ALG13):c.2757A>C (p.Pro919=)
|
rs2148403524
|
|
|
NM_001099922.3(ALG13):c.2760A>C (p.Pro920=)
|
|
|
|
NM_001099922.3(ALG13):c.2760A>G (p.Pro920=)
|
rs2148403613
|
|
|
NM_001099922.3(ALG13):c.2763A>C (p.Pro921=)
|
rs1602887961
|
|
|
NM_001099922.3(ALG13):c.2766A>C (p.Pro922=)
|
rs1944064025
|
|
|
NM_001099922.3(ALG13):c.2766A>G (p.Pro922=)
|
|
|
|
NM_001099922.3(ALG13):c.2769A>C (p.Pro923=)
|
rs1602888164
|
|
|
NM_001099922.3(ALG13):c.2772A>C (p.Pro924=)
|
rs1204623641
|
|
|
NM_001099922.3(ALG13):c.2772A>G (p.Pro924=)
|
|
|
|
NM_001099922.3(ALG13):c.2775A>C (p.Pro925=)
|
rs1285221362
|
|
|
NM_001099922.3(ALG13):c.2778A>C (p.Pro926=)
|
rs1218547242
|
|
|
NM_001099922.3(ALG13):c.2781A>C (p.Pro927=)
|
rs147870070
|
|
|
NM_001099922.3(ALG13):c.2784A>C (p.Pro928=)
|
rs1602888630
|
|
|
NM_001099922.3(ALG13):c.2787A>C (p.Pro929=)
|
rs772431643
|
|
|
NM_001099922.3(ALG13):c.2790A>C (p.Pro930=)
|
rs1602888750
|
|
|
NM_001099922.3(ALG13):c.2790A>G (p.Pro930=)
|
|
|
|
NM_001099922.3(ALG13):c.2790A>T (p.Pro930=)
|
|
|
|
NM_001099922.3(ALG13):c.2790_2801del (p.Pro942_Pro945del)
|
rs1944071710
|
|
|
NM_001099922.3(ALG13):c.2792_2793insTCC (p.Pro945_Ala946insPro)
|
|
|
|
NM_001099922.3(ALG13):c.2793A>C (p.Pro931=)
|
rs1325128061
|
|
|
NM_001099922.3(ALG13):c.2793A>T (p.Pro931=)
|
|
|
|
NM_001099922.3(ALG13):c.2793_2801del (p.Pro943_Pro945del)
|
rs1944073301
|
|
|
NM_001099922.3(ALG13):c.2793_2801dup (p.Pro945_Ala946insProProPro)
|
|
|
|
NM_001099922.3(ALG13):c.2795_2796insTCC (p.Pro945dup)
|
rs1944074283
|
|
|
NM_001099922.3(ALG13):c.2796A>C (p.Pro932=)
|
|
|
|
NM_001099922.3(ALG13):c.2796_2801del (p.Pro944_Pro945del)
|
rs1468160803
|
|
|
NM_001099922.3(ALG13):c.2796_2804del (p.Pro943_Pro945del)
|
rs2148404715
|
|
|
NM_001099922.3(ALG13):c.2796_2807del (p.Pro942_Pro945del)
|
|
|
|
NM_001099922.3(ALG13):c.2796_2810del (p.Pro941_Pro945del)
|
|
|
|
NM_001099922.3(ALG13):c.2797CCT[10] (p.Pro943_Pro945del)
|
rs56717389
|
|
|
NM_001099922.3(ALG13):c.2797CCT[15] (p.Pro944_Pro945dup)
|
rs56717389
|
|
|
NM_001099922.3(ALG13):c.2797CCT[16] (p.Pro943_Pro945dup)
|
rs56717389
|
|
|
NM_001099922.3(ALG13):c.2797CCT[8] (p.Pro941_Pro945del)
|
rs56717389
|
|
|
NM_001099922.3(ALG13):c.2798_2799insACCACCTCC (p.Pro943_Pro945dup)
|
rs1569522034
|
|
|
NM_001099922.3(ALG13):c.2798_2799insACCTCCTCC (p.Pro943_Pro945dup)
|
rs1569522034
|
|
|
NM_001099922.3(ALG13):c.2799T>C (p.Pro933=)
|
|
|
|
NM_001099922.3(ALG13):c.27G>A (p.Gly9=)
|
|
|
|
NM_001099922.3(ALG13):c.2802T>C (p.Pro934=)
|
|
|
|
NM_001099922.3(ALG13):c.2814T>A (p.Pro938=)
|
|
|
|
NM_001099922.3(ALG13):c.2820T>A (p.Pro940=)
|
|
|
|
NM_001099922.3(ALG13):c.2820T>G (p.Pro940=)
|
rs765365972
|
|
|
NM_001099922.3(ALG13):c.2821_2841del (p.Pro941_Leu947del)
|
|
|
|
NM_001099922.3(ALG13):c.2835T>C (p.Pro945=)
|
|
|
|
NM_001099922.3(ALG13):c.2866C>G (p.Gln956Glu)
|
|
|
|
NM_001099922.3(ALG13):c.2874A>G (p.Pro958=)
|
|
|
|
NM_001099922.3(ALG13):c.2877A>G (p.Pro959=)
|
|
|
|
NM_001099922.3(ALG13):c.2883A>G (p.Leu961=)
|
rs370500067
|
|
|
NM_001099922.3(ALG13):c.2892A>G (p.Pro964=)
|
rs1556523067
|
|
|
NM_001099922.3(ALG13):c.2910A>G (p.Pro970=)
|
|
|
|
NM_001099922.3(ALG13):c.2932+16G>A
|
|
|
|
NM_001099922.3(ALG13):c.2932+16_2932+30del
|
|
|
|
NM_001099922.3(ALG13):c.2932+19T>G
|
|
|
|
NM_001099922.3(ALG13):c.2932+22_2932+41del
|
|
|
|
NM_001099922.3(ALG13):c.2932+6_2932+7insC
|
|
|
|
NM_001099922.3(ALG13):c.2932+8G>T
|
|
|
|
NM_001099922.3(ALG13):c.2932+9_2932+10insCGCTTTTT
|
|
|
|
NM_001099922.3(ALG13):c.2933-15G>C
|
|
|
|
NM_001099922.3(ALG13):c.294G>T (p.Val98=)
|
|
|
|
NM_001099922.3(ALG13):c.2967A>G (p.Gly989=)
|
rs1944879675
|
|
|
NM_001099922.3(ALG13):c.2973+9C>T
|
|
|
|
NM_001099922.3(ALG13):c.2974-10C>T
|
rs1426077854
|
|
|
NM_001099922.3(ALG13):c.2974-17G>A
|
|
|
|
NM_001099922.3(ALG13):c.2974-4C>T
|
|
|
|
NM_001099922.3(ALG13):c.2991C>T (p.Tyr997=)
|
|
|
|
NM_001099922.3(ALG13):c.3012G>A (p.Val1004=)
|
|
|
|
NM_001099922.3(ALG13):c.3015A>T (p.Pro1005=)
|
|
|
|
NM_001099922.3(ALG13):c.3048T>C (p.Tyr1016=)
|
|
|
|
NM_001099922.3(ALG13):c.3054C>G (p.Val1018=)
|
|
|
|
NM_001099922.3(ALG13):c.3066A>G (p.Pro1022=)
|
|
|
|
NM_001099922.3(ALG13):c.3070C>T (p.Leu1024=)
|
|
|
|
NM_001099922.3(ALG13):c.3072G>C (p.Leu1024=)
|
|
|
|
NM_001099922.3(ALG13):c.30C>T (p.Thr10=)
|
|
|
|
NM_001099922.3(ALG13):c.3117A>G (p.Glu1039=)
|
rs2148514625
|
|
|
NM_001099922.3(ALG13):c.3120T>C (p.Asp1040=)
|
rs2148514681
|
|
|
NM_001099922.3(ALG13):c.3123C>T (p.Gly1041=)
|
|
|
|
NM_001099922.3(ALG13):c.3148+7G>A
|
|
|
|
NM_001099922.3(ALG13):c.3148+7G>C
|
|
|
|
NM_001099922.3(ALG13):c.3149-11C>T
|
|
|
|
NM_001099922.3(ALG13):c.3149-12C>T
|
rs1603002604
|
|
|
NM_001099922.3(ALG13):c.3149-14A>G
|
|
|
|
NM_001099922.3(ALG13):c.3149-16A>G
|
|
|
|
NM_001099922.3(ALG13):c.3149-18A>G
|
rs1340748910
|
|
|
NM_001099922.3(ALG13):c.3149-19T>C
|
|
|
|
NM_001099922.3(ALG13):c.3149-9T>C
|
|
|
|
NM_001099922.3(ALG13):c.3156T>C (p.Phe1052=)
|
|
|
|
NM_001099922.3(ALG13):c.3195C>G (p.Val1065=)
|
|
|
|
NM_001099922.3(ALG13):c.3221A>T (p.Tyr1074Phe)
|
rs372990620
|
|
|
NM_001099922.3(ALG13):c.3267G>A (p.Val1089=)
|
|
|
|
NM_001099922.3(ALG13):c.3279C>A (p.Ser1093=)
|
|
|
|
NM_001099922.3(ALG13):c.3291C>G (p.Pro1097=)
|
rs1329885117
|
|
|
NM_001099922.3(ALG13):c.3321T>C (p.Gly1107=)
|
rs2148531912
|
|
|
NM_001099922.3(ALG13):c.3324T>G (p.Ser1108=)
|
|
|
|
NM_001099922.3(ALG13):c.3327T>G (p.Ser1109=)
|
rs2148532070
|
|
|
NM_001099922.3(ALG13):c.3330A>G (p.Gln1110=)
|
rs761412613
|
|
|
NM_001099922.3(ALG13):c.3330A>T (p.Gln1110His)
|
|
|
|
NM_001099922.3(ALG13):c.334C>T (p.Leu112=)
|
|
|
|
NM_001099922.3(ALG13):c.3372T>C (p.Ala1124=)
|
|
|
|
NM_001099922.3(ALG13):c.33C>G (p.Thr11=)
|
|
|
|
NM_001099922.3(ALG13):c.348A>G (p.Leu116=)
|
|
|
|
NM_001099922.3(ALG13):c.354A>G (p.Lys118=)
|
rs1569510723
|
|
|
NM_001099922.3(ALG13):c.362A>G (p.His121Arg)
|
|
|
|
NM_001099922.3(ALG13):c.36C>T (p.Ser12=)
|
|
|
|
NM_001099922.3(ALG13):c.372T>C (p.Tyr124=)
|
|
|
|
NM_001099922.3(ALG13):c.383+13C>A
|
|
|
|
NM_001099922.3(ALG13):c.383+14_383+15del
|
|
|
|
NM_001099922.3(ALG13):c.383+16A>G
|
rs2147695492
|
|
|
NM_001099922.3(ALG13):c.383+16ATT[2]
|
|
|
|
NM_001099922.3(ALG13):c.383+17T>C
|
|
|
|
NM_001099922.3(ALG13):c.384-10_384-8del
|
|
|
|
NM_001099922.3(ALG13):c.384-12T>G
|
|
|
|
NM_001099922.3(ALG13):c.384-15C>T
|
|
|
|
NM_001099922.3(ALG13):c.384-17T>C
|
|
|
|
NM_001099922.3(ALG13):c.399T>C (p.Pro133=)
|
|
|
|
NM_001099922.3(ALG13):c.432G>A (p.Gly144=)
|
|
|
|
NM_001099922.3(ALG13):c.432G>C (p.Gly144=)
|
|
|
|
NM_001099922.3(ALG13):c.453G>A (p.Ala151=)
|
|
|
|
NM_001099922.3(ALG13):c.498C>T (p.Ser166=)
|
|
|
|
NM_001099922.3(ALG13):c.516A>G (p.Gln172=)
|
|
|
|
NM_001099922.3(ALG13):c.534C>T (p.Thr178=)
|
rs2147997341
|
|
|
NM_001099922.3(ALG13):c.554T>G (p.Leu185Arg)
|
rs1939121243
|
|
|
NM_001099922.3(ALG13):c.594C>T (p.Thr198=)
|
rs2147998048
|
|
|
NM_001099922.3(ALG13):c.597C>G (p.Pro199=)
|
|
|
|
NM_001099922.3(ALG13):c.60G>A (p.Val20=)
|
rs2147594318
|
|
|
NM_001099922.3(ALG13):c.646T>C (p.Ser216Pro)
|
rs2147998626
|
|
|
NM_001099922.3(ALG13):c.66G>A (p.Ala22=)
|
|
|
|
NM_001099922.3(ALG13):c.681C>G (p.Gly227=)
|
rs1939140318
|
|
|
NM_001099922.3(ALG13):c.684C>T (p.Ser228=)
|
|
|
|
NM_001099922.3(ALG13):c.69C>G (p.Pro23=)
|
|
|
|
NM_001099922.3(ALG13):c.729C>T (p.Leu243=)
|
|
|
|
NM_001099922.3(ALG13):c.750+14A>G
|
|
|
|
NM_001099922.3(ALG13):c.750+16_750+17del
|
|
|
|
NM_001099922.3(ALG13):c.750+17T>C
|
|
|
|
NM_001099922.3(ALG13):c.751-11C>T
|
rs1569515614
|
|
|
NM_001099922.3(ALG13):c.751-19G>T
|
rs2148005083
|
|
|
NM_001099922.3(ALG13):c.751-6T>C
|
rs2148005349
|
|
|
NM_001099922.3(ALG13):c.751-8_751-6del
|
rs765948340
|
|
|
NM_001099922.3(ALG13):c.756T>C (p.Phe252=)
|
rs915629293
|
|
|
NM_001099922.3(ALG13):c.774T>C (p.His258=)
|
|
|
|
NM_001099922.3(ALG13):c.792T>G (p.Ala264=)
|
|
|
|
NM_001099922.3(ALG13):c.795T>C (p.Cys265=)
|
rs2148005716
|
|
|
NM_001099922.3(ALG13):c.81+13G>A
|
|
|
|
NM_001099922.3(ALG13):c.81+16G>A
|
|
|
|
NM_001099922.3(ALG13):c.81+18G>A
|
|
|
|
NM_001099922.3(ALG13):c.81+20A>C
|
|
|
|
NM_001099922.3(ALG13):c.81+7G>A
|
|
|
|
NM_001099922.3(ALG13):c.81+7G>T
|
|
|
|
NM_001099922.3(ALG13):c.81+9G>A
|
|
|
|
NM_001099922.3(ALG13):c.81+9G>T
|
rs2147595118
|
|
|
NM_001099922.3(ALG13):c.834+14A>T
|
|
|
|
NM_001099922.3(ALG13):c.834+20del
|
|
|
|
NM_001099922.3(ALG13):c.834+8G>C
|
|
|
|
NM_001099922.3(ALG13):c.835-15G>C
|
|
|
|
NM_001099922.3(ALG13):c.837T>C (p.Tyr279=)
|
|
|
|
NM_001099922.3(ALG13):c.870G>A (p.Arg290=)
|
|
|
|
NM_001099922.3(ALG13):c.871T>C (p.Leu291=)
|
|
|
|
NM_001099922.3(ALG13):c.885+13A>G
|
|
|
|
NM_001099922.3(ALG13):c.885+16G>A
|
|
|
|
NM_001099922.3(ALG13):c.886-13T>C
|
rs2148043429
|
|
|
NM_001099922.3(ALG13):c.886-15A>G
|
rs2148043391
|
|
|
NM_001099922.3(ALG13):c.886-16C>T
|
rs780688383
|
|
|
NM_001099922.3(ALG13):c.886-6G>A
|
|
|
|
NM_001099922.3(ALG13):c.886-7T>C
|
rs1556488604
|
|
|
NM_001099922.3(ALG13):c.886-8A>T
|
|
|
|
NM_001099922.3(ALG13):c.890G>A (p.Ser297Asn)
|
rs1939938682
|
|
|
NM_001099922.3(ALG13):c.894T>C (p.Ala298=)
|
|
|
|
NM_001099922.3(ALG13):c.918T>G (p.Leu306=)
|
|
|
|
NM_001099922.3(ALG13):c.932+13C>T
|
|
|
|
NM_001099922.3(ALG13):c.932+14T>C
|
|
|
|
NM_001099922.3(ALG13):c.932+16T>C
|
|
|
|
NM_001099922.3(ALG13):c.932+8A>G
|
rs2148044353
|
|
|
NM_001099922.3(ALG13):c.933-20C>T
|
|
|
|
NM_001099922.3(ALG13):c.933-7C>T
|
rs2148052573
|
|
|
NM_001099922.3(ALG13):c.984A>G (p.Thr328=)
|
|
|
|
NM_001099922.3(ALG13):c.999A>G (p.Glu333=)
|
|
|
|
NM_001127222.2(CACNA1A):c.1014G>A (p.Leu338=)
|
|
|
|
NM_001127222.2(CACNA1A):c.1026C>G (p.Pro342=)
|
rs1412349338
|
|
|
NM_001127222.2(CACNA1A):c.1044C>T (p.Ser348=)
|
|
|
|
NM_001127222.2(CACNA1A):c.1054C>T (p.Leu352=)
|
|
|
|
NM_001127222.2(CACNA1A):c.1082+17C>T
|
rs992037503
|
|
|
NM_001127222.2(CACNA1A):c.1082+19C>A
|
|
|
|
NM_001127222.2(CACNA1A):c.1082+20C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.1083-12A>G
|
|
|
|
NM_001127222.2(CACNA1A):c.1083-20G>T
|
|
|
|
NM_001127222.2(CACNA1A):c.1092C>T (p.Ala364=)
|
|
|
|
NM_001127222.2(CACNA1A):c.1120C>A (p.Arg374=)
|
rs2145132791
|
|
|
NM_001127222.2(CACNA1A):c.1122G>A (p.Arg374=)
|
rs2145132777
|
|
|
NM_001127222.2(CACNA1A):c.1170T>C (p.Asn390=)
|
rs768768744
|
|
|
NM_001127222.2(CACNA1A):c.1173G>T (p.Gly391=)
|
|
|
|
NM_001127222.2(CACNA1A):c.1198+15T>C
|
|
|
|
NM_001127222.2(CACNA1A):c.1198+16C>A
|
rs375761179
|
|
|
NM_001127222.2(CACNA1A):c.1199-12C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.1199-17G>A
|
|
|
|
NM_001127222.2(CACNA1A):c.1212C>T (p.Leu404=)
|
rs540579196
|
|
|
NM_001127222.2(CACNA1A):c.1215C>G (p.Ala405=)
|
rs1346992540
|
|
|
NM_001127222.2(CACNA1A):c.1215C>T (p.Ala405=)
|
rs1346992540
|
|
|
NM_001127222.2(CACNA1A):c.1218G>A (p.Glu406=)
|
|
|
|
NM_001127222.2(CACNA1A):c.1255+11T>C
|
|
|
|
NM_001127222.2(CACNA1A):c.1255+9T>C
|
rs759656495
|
|
|
NM_001127222.2(CACNA1A):c.1256-10A>G
|
|
|
|
NM_001127222.2(CACNA1A):c.1256-19C>T
|
rs1473736417
|
|
|
NM_001127222.2(CACNA1A):c.129G>C (p.Gly43=)
|
rs758153051
|
|
|
NM_001127222.2(CACNA1A):c.1305C>G (p.Pro435=)
|
rs376451601
|
|
|
NM_001127222.2(CACNA1A):c.1323G>A (p.Gln441=)
|
|
|
|
NM_001127222.2(CACNA1A):c.1345+12C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.1345+15C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.1346-11T>C
|
|
|
|
NM_001127222.2(CACNA1A):c.1346-7C>G
|
|
|
|
NM_001127222.2(CACNA1A):c.1346-8C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.1371T>C (p.Ile457=)
|
rs762652214
|
|
|
NM_001127222.2(CACNA1A):c.1395G>C (p.Ser465=)
|
|
|
|
NM_001127222.2(CACNA1A):c.1395G>T (p.Ser465=)
|
rs374307014
|
|
|
NM_001127222.2(CACNA1A):c.1416G>A (p.Glu472=)
|
rs756358571
|
|
|
NM_001127222.2(CACNA1A):c.1443C>T (p.Arg481=)
|
rs2058145379
|
|
|
NM_001127222.2(CACNA1A):c.1452A>G (p.Lys484=)
|
|
|
|
NM_001127222.2(CACNA1A):c.1461C>T (p.Ala487=)
|
|
|
|
NM_001127222.2(CACNA1A):c.1472C>T (p.Thr491Ile)
|
|
|
|
NM_001127222.2(CACNA1A):c.1494C>T (p.Leu498=)
|
|
|
|
NM_001127222.2(CACNA1A):c.1500G>T (p.Thr500=)
|
rs373192672
|
|
|
NM_001127222.2(CACNA1A):c.1533C>A (p.Pro511=)
|
rs751539123
|
|
|
NM_001127222.2(CACNA1A):c.1533C>T (p.Pro511=)
|
rs751539123
|
|
|
NM_001127222.2(CACNA1A):c.154A>G (p.Met52Val)
|
|
|
|
NM_001127222.2(CACNA1A):c.1555+15G>A
|
|
|
|
NM_001127222.2(CACNA1A):c.1555+17C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.1556-12_1556-10del
|
|
|
|
NM_001127222.2(CACNA1A):c.1556-4C>G
|
|
|
|
NM_001127222.2(CACNA1A):c.1556-4C>T
|
rs1455004036
|
|
|
NM_001127222.2(CACNA1A):c.1556-5T>C
|
|
|
|
NM_001127222.2(CACNA1A):c.1556-9C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.1593C>A (p.Ser531=)
|
|
|
|
NM_001127222.2(CACNA1A):c.159G>A (p.Ala53=)
|
|
|
|
NM_001127222.2(CACNA1A):c.1602T>C (p.Phe534=)
|
|
|
|
NM_001127222.2(CACNA1A):c.1605A>T (p.Ile535=)
|
rs1225327012
|
|
|
NM_001127222.2(CACNA1A):c.1668+13G>C
|
|
|
|
NM_001127222.2(CACNA1A):c.1669-7G>A
|
|
|
|
NM_001127222.2(CACNA1A):c.1669-7G>C
|
|
|
|
NM_001127222.2(CACNA1A):c.1680G>C (p.Gly560=)
|
rs1600293357
|
|
|
NM_001127222.2(CACNA1A):c.1695C>T (p.Val565=)
|
|
|
|
NM_001127222.2(CACNA1A):c.1708A>G (p.Ile570Val)
|
|
|
|
NM_001127222.2(CACNA1A):c.1719C>T (p.Gly573=)
|
|
|
|
NM_001127222.2(CACNA1A):c.1725C>G (p.Ser575=)
|
|
|
|
NM_001127222.2(CACNA1A):c.1770C>T (p.Phe590=)
|
rs2145005492
|
|
|
NM_001127222.2(CACNA1A):c.1779A>G (p.Thr593=)
|
|
|
|
NM_001127222.2(CACNA1A):c.1781+17C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.1781+7C>T
|
rs202005119
|
|
|
NM_001127222.2(CACNA1A):c.1782-14G>C
|
rs2145004534
|
|
|
NM_001127222.2(CACNA1A):c.1782-17C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.1782-19G>A
|
rs745683117
|
|
|
NM_001127222.2(CACNA1A):c.1785C>T (p.Tyr595=)
|
rs2057948502
|
|
|
NM_001127222.2(CACNA1A):c.1797C>T (p.Leu599=)
|
|
|
|
NM_001127222.2(CACNA1A):c.180A>C (p.Ala60=)
|
rs2145192414
|
|
|
NM_001127222.2(CACNA1A):c.1818C>G (p.Leu606=)
|
|
|
|
NM_001127222.2(CACNA1A):c.1839C>A (p.Ile613=)
|
rs374686479
|
|
|
NM_001127222.2(CACNA1A):c.1866G>A (p.Leu622=)
|
|
|
|
NM_001127222.2(CACNA1A):c.1876G>A (p.Val626Ile)
|
rs1346036017
|
|
|
NM_001127222.2(CACNA1A):c.1884C>A (p.Ala628=)
|
rs2145003982
|
|
|
NM_001127222.2(CACNA1A):c.1888T>C (p.Leu630=)
|
|
|
|
NM_001127222.2(CACNA1A):c.1913+10T>A
|
|
|
|
NM_001127222.2(CACNA1A):c.1913+11C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.1913+15G>A
|
|
|
|
NM_001127222.2(CACNA1A):c.1913+16G>T
|
|
|
|
NM_001127222.2(CACNA1A):c.1914-15G>C
|
|
|
|
NM_001127222.2(CACNA1A):c.1914-20T>C
|
|
|
|
NM_001127222.2(CACNA1A):c.1914-5T>C
|
rs2145002415
|
|
|
NM_001127222.2(CACNA1A):c.1914-7C>T
|
rs2145002450
|
|
|
NM_001127222.2(CACNA1A):c.1923C>T (p.Phe641=)
|
|
|
|
NM_001127222.2(CACNA1A):c.1956T>A (p.Thr652=)
|
|
|
|
NM_001127222.2(CACNA1A):c.1965A>T (p.Ala655=)
|
rs1600291631
|
|
|
NM_001127222.2(CACNA1A):c.1971A>T (p.Ile657=)
|
rs2145002214
|
|
|
NM_001127222.2(CACNA1A):c.1977G>T (p.Thr659=)
|
|
|
|
NM_001127222.2(CACNA1A):c.1986+14C>G
|
|
|
|
NM_001127222.2(CACNA1A):c.1986+16G>C
|
|
|
|
NM_001127222.2(CACNA1A):c.1986+19C>A
|
rs2145001986
|
|
|
NM_001127222.2(CACNA1A):c.1987-12C>A
|
|
|
|
NM_001127222.2(CACNA1A):c.1987-16C>A
|
rs1057523685
|
|
|
NM_001127222.2(CACNA1A):c.1987-17T>C
|
rs2144981058
|
|
|
NM_001127222.2(CACNA1A):c.2016C>T (p.Val672=)
|
|
|
|
NM_001127222.2(CACNA1A):c.201C>A (p.Val67=)
|
|
|
|
NM_001127222.2(CACNA1A):c.203G>A (p.Arg68Gln)
|
rs576099495
|
|
|
NM_001127222.2(CACNA1A):c.2046C>A (p.Gly682=)
|
|
|
|
NM_001127222.2(CACNA1A):c.209A>G (p.Asn70Ser)
|
rs749526415
|
|
|
NM_001127222.2(CACNA1A):c.2104+10A>G
|
rs2057840734
|
|
|
NM_001127222.2(CACNA1A):c.2105-5dup
|
rs2144979466
|
|
|
NM_001127222.2(CACNA1A):c.2106C>T (p.Tyr702=)
|
|
|
|
NM_001127222.2(CACNA1A):c.2172+14G>A
|
rs1195908031
|
|
|
NM_001127222.2(CACNA1A):c.2172+16G>A
|
rs895983254
|
|
|
NM_001127222.2(CACNA1A):c.2172+7G>C
|
rs1600282994
|
|
|
NM_001127222.2(CACNA1A):c.2172+7G>T
|
rs1600282994
|
|
|
NM_001127222.2(CACNA1A):c.2173-11G>T
|
|
|
|
NM_001127222.2(CACNA1A):c.2173-8C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.2175C>T (p.Asp725=)
|
|
|
|
NM_001127222.2(CACNA1A):c.2187A>G (p.Glu729=)
|
rs2144964768
|
|
|
NM_001127222.2(CACNA1A):c.219G>A (p.Thr73=)
|
|
|
|
NM_001127222.2(CACNA1A):c.2232G>A (p.Glu744=)
|
rs2144964550
|
|
|
NM_001127222.2(CACNA1A):c.2256C>A (p.Ser752=)
|
|
|
|
NM_001127222.2(CACNA1A):c.2256C>G (p.Ser752=)
|
rs764816582
|
|
|
NM_001127222.2(CACNA1A):c.2279+12T>G
|
|
|
|
NM_001127222.2(CACNA1A):c.2280-12A>G
|
|
|
|
NM_001127222.2(CACNA1A):c.2280-17dup
|
rs2144958686
|
|
|
NM_001127222.2(CACNA1A):c.2337T>C (p.Ser779=)
|
rs1555756457
|
|
|
NM_001127222.2(CACNA1A):c.234C>T (p.Leu78=)
|
rs1982990940
|
|
|
NM_001127222.2(CACNA1A):c.2381A>T (p.Tyr794Phe)
|
rs1374890716
|
|
|
NM_001127222.2(CACNA1A):c.2382T>C (p.Tyr794=)
|
rs1299468325
|
|
|
NM_001127222.2(CACNA1A):c.2400C>T (p.Asp800=)
|
rs376074188
|
|
|
NM_001127222.2(CACNA1A):c.240C>T (p.Leu80=)
|
|
|
|
NM_001127222.2(CACNA1A):c.2418C>T (p.Ala806=)
|
|
|
|
NM_001127222.2(CACNA1A):c.2439A>G (p.Pro813=)
|
rs2144957398
|
|
|
NM_001127222.2(CACNA1A):c.2440G>A (p.Asp814Asn)
|
|
|
|
NM_001127222.2(CACNA1A):c.2443A>G (p.Met815Val)
|
|
|
|
NM_001127222.2(CACNA1A):c.2451G>A (p.Thr817=)
|
rs201998077
|
|
|
NM_001127222.2(CACNA1A):c.2472G>A (p.Val824=)
|
|
|
|
NM_001127222.2(CACNA1A):c.2485G>A (p.Glu829Lys)
|
|
|
|
NM_001127222.2(CACNA1A):c.2523C>T (p.Ala841=)
|
|
|
|
NM_001127222.2(CACNA1A):c.2548G>A (p.Gly850Ser)
|
|
|
|
NM_001127222.2(CACNA1A):c.254A>G (p.Asn85Ser)
|
rs746902081
|
|
|
NM_001127222.2(CACNA1A):c.2559C>T (p.Arg853=)
|
|
|
|
NM_001127222.2(CACNA1A):c.2568C>T (p.Asp856=)
|
rs2144956514
|
|
|
NM_001127222.2(CACNA1A):c.2580A>G (p.Lys860=)
|
|
|
|
NM_001127222.2(CACNA1A):c.2586C>G (p.Ala862=)
|
rs1390932807
|
|
|
NM_001127222.2(CACNA1A):c.2592C>T (p.Tyr864=)
|
rs1463277441
|
|
|
NM_001127222.2(CACNA1A):c.2594A>T (p.His865Leu)
|
|
|
|
NM_001127222.2(CACNA1A):c.2600G>C (p.Arg867Pro)
|
rs754326939
|
|
|
NM_001127222.2(CACNA1A):c.2613C>T (p.Pro871=)
|
|
|
|
NM_001127222.2(CACNA1A):c.2627G>A (p.Gly876Asp)
|
|
|
|
NM_001127222.2(CACNA1A):c.2640G>C (p.Arg880=)
|
rs759401764
|
|
|
NM_001127222.2(CACNA1A):c.2667C>T (p.Ala889=)
|
|
|
|
NM_001127222.2(CACNA1A):c.2671C>T (p.Leu891=)
|
rs1205064338
|
|
|
NM_001127222.2(CACNA1A):c.2685A>T (p.Gly895=)
|
|
|
|
NM_001127222.2(CACNA1A):c.2687C>T (p.Pro896Leu)
|
rs121908242
|
|
|
NM_001127222.2(CACNA1A):c.2694C>T (p.Gly898=)
|
|
|
|
NM_001127222.2(CACNA1A):c.2697C>G (p.Arg899=)
|
|
|
|
NM_001127222.2(CACNA1A):c.2702C>G (p.Ser901Trp)
|
|
|
|
NM_001127222.2(CACNA1A):c.2706C>T (p.Asp902=)
|
rs1446752227
|
|
|
NM_001127222.2(CACNA1A):c.2730G>A (p.Leu910=)
|
rs987547951
|
|
|
NM_001127222.2(CACNA1A):c.2739C>G (p.Pro913=)
|
rs16021
|
|
|
NM_001127222.2(CACNA1A):c.2742G>A (p.Gly914=)
|
rs2144955190
|
|
|
NM_001127222.2(CACNA1A):c.2778G>A (p.Gly926=)
|
rs1035531839
|
|
|
NM_001127222.2(CACNA1A):c.2784C>G (p.Pro928=)
|
rs2144954801
|
|
|
NM_001127222.2(CACNA1A):c.2787C>T (p.His929=)
|
rs1555756078
|
|
|
NM_001127222.2(CACNA1A):c.2796C>T (p.His932=)
|
rs772941423
|
|
|
NM_001127222.2(CACNA1A):c.2805G>A (p.Arg935=)
|
|
|
|
NM_001127222.2(CACNA1A):c.2805G>T (p.Arg935=)
|
rs1002026253
|
|
|
NM_001127222.2(CACNA1A):c.2813G>T (p.Gly938Val)
|
rs747413278
|
|
|
NM_001127222.2(CACNA1A):c.2820G>A (p.Arg940=)
|
|
|
|
NM_001127222.2(CACNA1A):c.2840C>T (p.Pro947Leu)
|
|
|
|
NM_001127222.2(CACNA1A):c.2850C>T (p.Gly950=)
|
rs2144954181
|
|
|
NM_001127222.2(CACNA1A):c.2859G>A (p.Gly953=)
|
|
|
|
NM_001127222.2(CACNA1A):c.2865T>G (p.His955Gln)
|
|
|
|
NM_001127222.2(CACNA1A):c.2866C>A (p.Arg956=)
|
rs1245624754
|
|
|
NM_001127222.2(CACNA1A):c.2873A>G (p.His958Arg)
|
|
|
|
NM_001127222.2(CACNA1A):c.2880G>T (p.Ala960=)
|
rs1600272032
|
|
|
NM_001127222.2(CACNA1A):c.2886C>T (p.Arg962=)
|
rs1443085599
|
|
|
NM_001127222.2(CACNA1A):c.2887A>C (p.Arg963=)
|
rs1555755942
|
|
|
NM_001127222.2(CACNA1A):c.2892C>T (p.Pro964=)
|
rs771351347
|
|
|
NM_001127222.2(CACNA1A):c.2895G>A (p.Gly965=)
|
rs1057522107
|
|
|
NM_001127222.2(CACNA1A):c.2898G>A (p.Glu966=)
|
|
|
|
NM_001127222.2(CACNA1A):c.2904T>G (p.Gly968=)
|
|
|
|
NM_001127222.2(CACNA1A):c.2922G>A (p.Glu974=)
|
rs1361813971
|
|
|
NM_001127222.2(CACNA1A):c.2937C>T (p.His979=)
|
rs1600271774
|
|
|
NM_001127222.2(CACNA1A):c.294-15T>A
|
rs1329913453
|
|
|
NM_001127222.2(CACNA1A):c.294-6C>A
|
rs764502828
|
|
|
NM_001127222.2(CACNA1A):c.2950C>G (p.Arg984Gly)
|
|
|
|
NM_001127222.2(CACNA1A):c.2952G>C (p.Arg984=)
|
|
|
|
NM_001127222.2(CACNA1A):c.2955G>A (p.Pro985=)
|
rs749357610
|
|
|
NM_001127222.2(CACNA1A):c.2960G>C (p.Arg987Pro)
|
rs955869211
|
|
|
NM_001127222.2(CACNA1A):c.2962G>A (p.Gly988Ser)
|
|
|
|
NM_001127222.2(CACNA1A):c.2968GAGGGC[2] (p.990EG[2])
|
rs764399373
|
|
|
NM_001127222.2(CACNA1A):c.2968GAGGGC[4] (p.990EG[4])
|
rs764399373
|
|
|
NM_001127222.2(CACNA1A):c.2973C>G (p.Gly991=)
|
|
|
|
NM_001127222.2(CACNA1A):c.2985C>A (p.Gly995=)
|
rs1051973
|
|
|
NM_001127222.2(CACNA1A):c.2991C>T (p.Asp997=)
|
|
|
|
NM_001127222.2(CACNA1A):c.2994G>A (p.Gly998=)
|
|
|
|
NM_001127222.2(CACNA1A):c.2997C>T (p.Gly999=)
|
|
|
|
NM_001127222.2(CACNA1A):c.3003C>T (p.Arg1001=)
|
|
|
|
NM_001127222.2(CACNA1A):c.3012G>A (p.Arg1004=)
|
|
|
|
NM_001127222.2(CACNA1A):c.3017G>A (p.Arg1006Gln)
|
rs1268938831
|
|
|
NM_001127222.2(CACNA1A):c.3018G>A (p.Arg1006=)
|
|
|
|
NM_001127222.2(CACNA1A):c.3033C>T (p.Ala1011=)
|
rs2144952263
|
|
|
NM_001127222.2(CACNA1A):c.3035C>T (p.Thr1012Met)
|
rs573941336
|
|
|
NM_001127222.2(CACNA1A):c.3036G>A (p.Thr1012=)
|
rs1302148060
|
|
|
NM_001127222.2(CACNA1A):c.3036G>C (p.Thr1012=)
|
|
|
|
NM_001127222.2(CACNA1A):c.3051G>A (p.Ala1017=)
|
rs2057719000
|
|
|
NM_001127222.2(CACNA1A):c.3070C>A (p.Arg1024=)
|
rs1180851544
|
|
|
NM_001127222.2(CACNA1A):c.3089+10G>A
|
|
|
|
NM_001127222.2(CACNA1A):c.3089+15C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.3089+18C>G
|
|
|
|
NM_001127222.2(CACNA1A):c.3089+18C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.3090-10C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.3090-5C>T
|
rs976595665
|
|
|
NM_001127222.2(CACNA1A):c.3108G>T (p.Gly1036=)
|
|
|
|
NM_001127222.2(CACNA1A):c.3117G>A (p.Val1039=)
|
rs745981005
|
|
|
NM_001127222.2(CACNA1A):c.3144G>A (p.Arg1048=)
|
|
|
|
NM_001127222.2(CACNA1A):c.3168C>G (p.Arg1056=)
|
|
|
|
NM_001127222.2(CACNA1A):c.3174C>G (p.Asp1058Glu)
|
|
|
|
NM_001127222.2(CACNA1A):c.3195T>C (p.Ile1065=)
|
rs1480156688
|
|
|
NM_001127222.2(CACNA1A):c.3213C>T (p.Asn1071=)
|
|
|
|
NM_001127222.2(CACNA1A):c.3225C>T (p.Thr1075=)
|
|
|
|
NM_001127222.2(CACNA1A):c.3243C>G (p.Pro1081=)
|
rs749854221
|
|
|
NM_001127222.2(CACNA1A):c.3265G>A (p.Gly1089Ser)
|
rs201311000
|
|
|
NM_001127222.2(CACNA1A):c.3265G>T (p.Gly1089Cys)
|
rs201311000
|
|
|
NM_001127222.2(CACNA1A):c.3267C>T (p.Gly1089=)
|
|
|
|
NM_001127222.2(CACNA1A):c.3288G>A (p.Lys1096=)
|
rs1555752995
|
|
|
NM_001127222.2(CACNA1A):c.330G>T (p.Ala110=)
|
rs375486960
|
|
|
NM_001127222.2(CACNA1A):c.3315C>T (p.Pro1105=)
|
|
|
|
NM_001127222.2(CACNA1A):c.3330T>G (p.Pro1110=)
|
|
|
|
NM_001127222.2(CACNA1A):c.3345C>T (p.Asn1115=)
|
rs752384911
|
|
|
NM_001127222.2(CACNA1A):c.3358G>A (p.Ala1120Thr)
|
|
|
|
NM_001127222.2(CACNA1A):c.3365G>T (p.Arg1122Leu)
|
|
|
|
NM_001127222.2(CACNA1A):c.3367C>T (p.Arg1123Trp)
|
rs775079497
|
|
|
NM_001127222.2(CACNA1A):c.3369G>A (p.Arg1123=)
|
|
|
|
NM_001127222.2(CACNA1A):c.3405C>A (p.Gly1135=)
|
rs751649216
|
|
|
NM_001127222.2(CACNA1A):c.3410C>G (p.Pro1137Arg)
|
rs200333359
|
|
|
NM_001127222.2(CACNA1A):c.3410C>T (p.Pro1137Leu)
|
rs200333359
|
|
|
NM_001127222.2(CACNA1A):c.3411C>A (p.Pro1137=)
|
|
|
|
NM_001127222.2(CACNA1A):c.3411C>T (p.Pro1137=)
|
rs770525318
|
|
|
NM_001127222.2(CACNA1A):c.3414G>A (p.Lys1138=)
|
rs1600245661
|
|
|
NM_001127222.2(CACNA1A):c.3415A>T (p.Thr1139Ser)
|
|
|
|
NM_001127222.2(CACNA1A):c.3444C>T (p.Asn1148=)
|
|
|
|
NM_001127222.2(CACNA1A):c.3451G>A (p.Gly1151Ser)
|
|
|
|
NM_001127222.2(CACNA1A):c.3453C>G (p.Gly1151=)
|
|
|
|
NM_001127222.2(CACNA1A):c.3464A>G (p.Asn1155Ser)
|
rs992828062
|
|
|
NM_001127222.2(CACNA1A):c.3489C>G (p.Pro1163=)
|
rs771567638
|
|
|
NM_001127222.2(CACNA1A):c.348A>T (p.Ala116=)
|
rs2060983904
|
|
|
NM_001127222.2(CACNA1A):c.3495C>T (p.His1165=)
|
rs1436962839
|
|
|
NM_001127222.2(CACNA1A):c.3510C>T (p.Ile1170=)
|
|
|
|
NM_001127222.2(CACNA1A):c.3513C>T (p.Pro1171=)
|
|
|
|
NM_001127222.2(CACNA1A):c.3525A>C (p.Pro1175=)
|
rs886044439
|
|
|
NM_001127222.2(CACNA1A):c.3528C>A (p.Pro1176=)
|
rs2057403294
|
|
|
NM_001127222.2(CACNA1A):c.3530C>A (p.Pro1177His)
|
|
|
|
NM_001127222.2(CACNA1A):c.3530C>G (p.Pro1177Arg)
|
rs201789073
|
|
|
NM_001127222.2(CACNA1A):c.3530C>T (p.Pro1177Leu)
|
rs201789073
|
|
|
NM_001127222.2(CACNA1A):c.3531C>T (p.Pro1177=)
|
rs184723350
|
|
|
NM_001127222.2(CACNA1A):c.3532C>A (p.Leu1178Ile)
|
rs556266465
|
|
|
NM_001127222.2(CACNA1A):c.3532C>G (p.Leu1178Val)
|
rs556266465
|
|
|
NM_001127222.2(CACNA1A):c.3553+16C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.3553+18C>A
|
|
|
|
NM_001127222.2(CACNA1A):c.3553+19A>T
|
|
|
|
NM_001127222.2(CACNA1A):c.3554-17G>T
|
|
|
|
NM_001127222.2(CACNA1A):c.3574G>A (p.Asp1192Asn)
|
rs773649403
|
|
|
NM_001127222.2(CACNA1A):c.357G>A (p.Gln119=)
|
rs1568661972
|
|
|
NM_001127222.2(CACNA1A):c.3591A>G (p.Lys1197=)
|
|
|
|
NM_001127222.2(CACNA1A):c.3599A>G (p.Glu1200Gly)
|
rs2057373105
|
|
|
NM_001127222.2(CACNA1A):c.3626G>A (p.Arg1209His)
|
rs374286965
|
|
|
NM_001127222.2(CACNA1A):c.3626G>T (p.Arg1209Leu)
|
rs374286965
|
|
|
NM_001127222.2(CACNA1A):c.3637G>A (p.Gly1213Ser)
|
rs767000559
|
|
|
NM_001127222.2(CACNA1A):c.3650T>C (p.Met1217Thr)
|
|
|
|
NM_001127222.2(CACNA1A):c.3666C>T (p.Ser1222=)
|
rs1600242610
|
|
|
NM_001127222.2(CACNA1A):c.3684G>C (p.Thr1228=)
|
|
|
|
NM_001127222.2(CACNA1A):c.3685A>G (p.Thr1229Ala)
|
|
|
|
NM_001127222.2(CACNA1A):c.3692+7A>G
|
|
|
|
NM_001127222.2(CACNA1A):c.3693-20C>A
|
|
|
|
NM_001127222.2(CACNA1A):c.3702C>T (p.Arg1234=)
|
rs2144871814
|
|
|
NM_001127222.2(CACNA1A):c.3705G>A (p.Leu1235=)
|
|
|
|
NM_001127222.2(CACNA1A):c.3756C>T (p.Val1252=)
|
|
|
|
NM_001127222.2(CACNA1A):c.3771C>T (p.Ser1257=)
|
rs1600238829
|
|
|
NM_001127222.2(CACNA1A):c.3798G>A (p.Val1266=)
|
|
|
|
NM_001127222.2(CACNA1A):c.3822+15G>C
|
rs2144871142
|
|
|
NM_001127222.2(CACNA1A):c.3822+20C>A
|
rs1056191725
|
|
|
NM_001127222.2(CACNA1A):c.3822+9C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.3823-16C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.3823-4A>G
|
|
|
|
NM_001127222.2(CACNA1A):c.3825G>A (p.Val1275=)
|
|
|
|
NM_001127222.2(CACNA1A):c.3844G>A (p.Val1282Ile)
|
|
|
|
NM_001127222.2(CACNA1A):c.384G>A (p.Pro128=)
|
|
|
|
NM_001127222.2(CACNA1A):c.384G>T (p.Pro128=)
|
|
|
|
NM_001127222.2(CACNA1A):c.3855C>T (p.Gly1285=)
|
|
|
|
NM_001127222.2(CACNA1A):c.3882+15T>G
|
|
|
|
NM_001127222.2(CACNA1A):c.3883-12T>C
|
|
|
|
NM_001127222.2(CACNA1A):c.3883-13T>C
|
rs2057137391
|
|
|
NM_001127222.2(CACNA1A):c.3883-14C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.3883-16C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.3883-5C>A
|
rs748652953
|
|
|
NM_001127222.2(CACNA1A):c.3883-5C>G
|
rs748652953
|
|
|
NM_001127222.2(CACNA1A):c.3883-6C>T
|
rs1600224734
|
|
|
NM_001127222.2(CACNA1A):c.3970C>T (p.Leu1324=)
|
|
|
|
NM_001127222.2(CACNA1A):c.3978C>T (p.Ala1326=)
|
|
|
|
NM_001127222.2(CACNA1A):c.3984C>T (p.Ala1328=)
|
rs2144833248
|
|
|
NM_001127222.2(CACNA1A):c.3989+10C>T
|
rs1600224597
|
|
|
NM_001127222.2(CACNA1A):c.3989+13G>A
|
rs373480312
|
|
|
NM_001127222.2(CACNA1A):c.3989+19G>A
|
|
|
|
NM_001127222.2(CACNA1A):c.3989+9C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.399+15T>C
|
rs1395412975
|
|
|
NM_001127222.2(CACNA1A):c.3990-16A>G
|
rs2144773270
|
|
|
NM_001127222.2(CACNA1A):c.3990-18C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.3990-20A>G
|
|
|
|
NM_001127222.2(CACNA1A):c.3990-4A>T
|
|
|
|
NM_001127222.2(CACNA1A):c.3990-9C>A
|
|
|
|
NM_001127222.2(CACNA1A):c.400-13C>G
|
|
|
|
NM_001127222.2(CACNA1A):c.400-14T>A
|
rs779677432
|
|
|
NM_001127222.2(CACNA1A):c.400-15T>G
|
|
|
|
NM_001127222.2(CACNA1A):c.400-16C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.400-18G>T
|
rs2060943702
|
|
|
NM_001127222.2(CACNA1A):c.400-4C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.4014C>T (p.Ile1338=)
|
|
|
|
NM_001127222.2(CACNA1A):c.4020G>A (p.Thr1340=)
|
|
|
|
NM_001127222.2(CACNA1A):c.4032C>G (p.Leu1344=)
|
|
|
|
NM_001127222.2(CACNA1A):c.4050A>T (p.Leu1350=)
|
|
|
|
NM_001127222.2(CACNA1A):c.4083G>A (p.Lys1361=)
|
|
|
|
NM_001127222.2(CACNA1A):c.4089+12A>C
|
|
|
|
NM_001127222.2(CACNA1A):c.4089+15T>C
|
|
|
|
NM_001127222.2(CACNA1A):c.4089+18T>C
|
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|
|
NM_001127222.2(CACNA1A):c.4089+19G>A
|
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|
|
NM_001127222.2(CACNA1A):c.4089+5_4089+6del
|
rs368911651
|
|
|
NM_001127222.2(CACNA1A):c.4090-24CT[2]
|
|
|
|
NM_001127222.2(CACNA1A):c.4090-4A>G
|
rs2144767685
|
|
|
NM_001127222.2(CACNA1A):c.411A>G (p.Glu137=)
|
rs148002271
|
|
|
NM_001127222.2(CACNA1A):c.4179G>A (p.Val1393=)
|
|
|
|
NM_001127222.2(CACNA1A):c.4197G>A (p.Lys1399=)
|
rs1475353262
|
|
|
NM_001127222.2(CACNA1A):c.4250+10C>T
|
rs1340165763
|
|
|
NM_001127222.2(CACNA1A):c.4250+11A>G
|
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|
|
NM_001127222.2(CACNA1A):c.4250+15T>C
|
rs774357662
|
|
|
NM_001127222.2(CACNA1A):c.4250+15T>G
|
|
|
|
NM_001127222.2(CACNA1A):c.4250+16C>G
|
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NM_001127222.2(CACNA1A):c.4250+19G>A
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NM_001127222.2(CACNA1A):c.4251-17C>T
|
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|
|
NM_001127222.2(CACNA1A):c.4263C>A (p.Leu1421=)
|
|
|
|
NM_001127222.2(CACNA1A):c.4266C>A (p.Leu1422=)
|
|
|
|
NM_001127222.2(CACNA1A):c.4278T>C (p.Asn1426=)
|
|
|
|
NM_001127222.2(CACNA1A):c.4289C>T (p.Ala1430Val)
|
|
|
|
NM_001127222.2(CACNA1A):c.4290G>T (p.Ala1430=)
|
rs555959123
|
|
|
NM_001127222.2(CACNA1A):c.4297C>A (p.Arg1433=)
|
rs1275025158
|
|
|
NM_001127222.2(CACNA1A):c.4314T>C (p.Tyr1438=)
|
|
|
|
NM_001127222.2(CACNA1A):c.4326C>T (p.Tyr1442=)
|
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|
|
NM_001127222.2(CACNA1A):c.4345C>A (p.Leu1449Met)
|
|
|
|
NM_001127222.2(CACNA1A):c.4365G>T (p.Val1455=)
|
rs2144758200
|
|
|
NM_001127222.2(CACNA1A):c.4388+11C>T
|
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NM_001127222.2(CACNA1A):c.4388+13A>G
|
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NM_001127222.2(CACNA1A):c.4388+16G>A
|
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NM_001127222.2(CACNA1A):c.4389-19C>A
|
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NM_001127222.2(CACNA1A):c.4389-28_4389-12dup
|
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|
NM_001127222.2(CACNA1A):c.4389-5T>C
|
rs896214992
|
|
|
NM_001127222.2(CACNA1A):c.4392C>A (p.Val1464=)
|
rs1458275517
|
|
|
NM_001127222.2(CACNA1A):c.4398G>A (p.Lys1466=)
|
rs1555743957
|
|
|
NM_001127222.2(CACNA1A):c.4434C>T (p.Pro1478=)
|
|
|
|
NM_001127222.2(CACNA1A):c.4443G>A (p.Gly1481=)
|
rs750865024
|
|
|
NM_001127222.2(CACNA1A):c.4461C>G (p.Ser1487=)
|
|
|
|
NM_001127222.2(CACNA1A):c.4473C>T (p.Val1491=)
|
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|
|
NM_001127222.2(CACNA1A):c.4500C>T (p.Phe1500=)
|
rs2144748402
|
|
|
NM_001127222.2(CACNA1A):c.4521C>T (p.Ala1507=)
|
|
|
|
NM_001127222.2(CACNA1A):c.4590+13A>C
|
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NM_001127222.2(CACNA1A):c.4590+19T>C
|
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|
NM_001127222.2(CACNA1A):c.4591-12TC[2]
|
|
|
|
NM_001127222.2(CACNA1A):c.4591-14C>G
|
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NM_001127222.2(CACNA1A):c.4591-17T>C
|
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NM_001127222.2(CACNA1A):c.4591-18C>G
|
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|
NM_001127222.2(CACNA1A):c.4591-5del
|
rs2056515046
|
|
|
NM_001127222.2(CACNA1A):c.4647G>A (p.Gln1549=)
|
rs2144735110
|
|
|
NM_001127222.2(CACNA1A):c.4701C>T (p.Phe1567=)
|
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|
NM_001127222.2(CACNA1A):c.4710G>T (p.Thr1570=)
|
rs761547761
|
|
|
NM_001127222.2(CACNA1A):c.4740C>T (p.Ile1580=)
|
rs1415212677
|
|
|
NM_001127222.2(CACNA1A):c.4755+20C>T
|
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NM_001127222.2(CACNA1A):c.4756-12T>G
|
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NM_001127222.2(CACNA1A):c.4756-15G>A
|
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|
NM_001127222.2(CACNA1A):c.4756-4del
|
rs752161961
|
|
|
NM_001127222.2(CACNA1A):c.4756-7C>T
|
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|
|
NM_001127222.2(CACNA1A):c.4791G>A (p.Leu1597=)
|
rs2144726178
|
|
|
NM_001127222.2(CACNA1A):c.4797G>A (p.Val1599=)
|
|
|
|
NM_001127222.2(CACNA1A):c.480C>T (p.His160=)
|
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|
NM_001127222.2(CACNA1A):c.4836T>C (p.Cys1612=)
|
rs781413708
|
|
|
NM_001127222.2(CACNA1A):c.4860G>A (p.Gly1620=)
|
rs2144725963
|
|
|
NM_001127222.2(CACNA1A):c.4866+11C>T
|
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|
NM_001127222.2(CACNA1A):c.4866+18G>T
|
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NM_001127222.2(CACNA1A):c.4866+19C>G
|
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NM_001127222.2(CACNA1A):c.4867-11C>A
|
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NM_001127222.2(CACNA1A):c.4867-13G>T
|
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|
NM_001127222.2(CACNA1A):c.4867-18T>C
|
rs2144692214
|
|
|
NM_001127222.2(CACNA1A):c.4867-7A>C
|
|
|
|
NM_001127222.2(CACNA1A):c.4867-8C>T
|
rs1057522362
|
|
|
NM_001127222.2(CACNA1A):c.4878C>T (p.Arg1626=)
|
|
|
|
NM_001127222.2(CACNA1A):c.4881T>C (p.Asp1627=)
|
rs558064032
|
|
|
NM_001127222.2(CACNA1A):c.4902T>C (p.Phe1634=)
|
|
|
|
NM_001127222.2(CACNA1A):c.4908T>C (p.Thr1636=)
|
|
|
|
NM_001127222.2(CACNA1A):c.4917C>T (p.Gly1639=)
|
|
|
|
NM_001127222.2(CACNA1A):c.492C>T (p.Tyr164=)
|
|
|
|
NM_001127222.2(CACNA1A):c.4938G>T (p.Val1646=)
|
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|
|
NM_001127222.2(CACNA1A):c.493T>C (p.Leu165=)
|
rs2144936227
|
|
|
NM_001127222.2(CACNA1A):c.4950+12T>C
|
|
|
|
NM_001127222.2(CACNA1A):c.4950+15A>G
|
rs755685706
|
|
|
NM_001127222.2(CACNA1A):c.4950+16G>T
|
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|
|
NM_001127222.2(CACNA1A):c.4950+20C>T
|
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|
NM_001127222.2(CACNA1A):c.4951-10A>C
|
rs2055852187
|
|
|
NM_001127222.2(CACNA1A):c.4951-3del
|
rs1600140005
|
|
|
NM_001127222.2(CACNA1A):c.4998G>T (p.Arg1666=)
|
|
|
|
NM_001127222.2(CACNA1A):c.5001C>T (p.Leu1667=)
|
rs755424786
|
|
|
NM_001127222.2(CACNA1A):c.5067+10C>G
|
rs549805937
|
|
|
NM_001127222.2(CACNA1A):c.5067+20G>C
|
|
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|
NM_001127222.2(CACNA1A):c.5068-10T>C
|
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|
NM_001127222.2(CACNA1A):c.5068-19T>C
|
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|
|
NM_001127222.2(CACNA1A):c.5068-6dup
|
|
|
|
NM_001127222.2(CACNA1A):c.5079T>C (p.Tyr1693=)
|
|
|
|
NM_001127222.2(CACNA1A):c.5106C>T (p.Phe1702=)
|
|
|
|
NM_001127222.2(CACNA1A):c.5112C>T (p.Ile1704=)
|
rs1057521708
|
|
|
NM_001127222.2(CACNA1A):c.5118C>T (p.Ala1706=)
|
rs2144647886
|
|
|
NM_001127222.2(CACNA1A):c.5127G>A (p.Gly1709=)
|
|
|
|
NM_001127222.2(CACNA1A):c.5133+9C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.5163G>A (p.Glu1721=)
|
rs776192705
|
|
|
NM_001127222.2(CACNA1A):c.5188T>C (p.Phe1730Leu)
|
|
|
|
NM_001127222.2(CACNA1A):c.522T>C (p.Phe174=)
|
|
|
|
NM_001127222.2(CACNA1A):c.5249+13C>A
|
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|
NM_001127222.2(CACNA1A):c.5249+14C>T
|
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|
NM_001127222.2(CACNA1A):c.5249+19C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.5249+7A>C
|
rs1600138314
|
|
|
NM_001127222.2(CACNA1A):c.525G>C (p.Val175=)
|
rs1231813346
|
|
|
NM_001127222.2(CACNA1A):c.5262G>A (p.Gly1754=)
|
|
|
|
NM_001127222.2(CACNA1A):c.5306C>T (p.Pro1769Leu)
|
|
|
|
NM_001127222.2(CACNA1A):c.5307G>A (p.Pro1769=)
|
|
|
|
NM_001127222.2(CACNA1A):c.537G>A (p.Thr179=)
|
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|
|
NM_001127222.2(CACNA1A):c.539+12G>C
|
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|
|
NM_001127222.2(CACNA1A):c.539+14G>A
|
rs1057523199
|
|
|
NM_001127222.2(CACNA1A):c.539+18T>A
|
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|
|
NM_001127222.2(CACNA1A):c.539+8G>A
|
rs372925573
|
|
|
NM_001127222.2(CACNA1A):c.539+9C>A
|
rs369146237
|
|
|
NM_001127222.2(CACNA1A):c.540-13T>C
|
|
|
|
NM_001127222.2(CACNA1A):c.540-6_540-3del
|
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|
|
NM_001127222.2(CACNA1A):c.5400+17T>C
|
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|
|
NM_001127222.2(CACNA1A):c.5401-10G>T
|
rs370129945
|
|
|
NM_001127222.2(CACNA1A):c.5401-18T>C
|
|
|
|
NM_001127222.2(CACNA1A):c.5460C>T (p.Ser1820=)
|
|
|
|
NM_001127222.2(CACNA1A):c.5472C>A (p.Gly1824=)
|
rs1804930573
|
|
|
NM_001127222.2(CACNA1A):c.547G>A (p.Ala183Thr)
|
|
|
|
NM_001127222.2(CACNA1A):c.5511G>C (p.Glu1837Asp)
|
rs1348448383
|
|
|
NM_001127222.2(CACNA1A):c.5528+1270C>A
|
|
|
|
NM_001127222.2(CACNA1A):c.5528+12C>T
|
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|
|
NM_001127222.2(CACNA1A):c.5528+15C>A
|
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|
NM_001127222.2(CACNA1A):c.5528+17A>C
|
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|
|
NM_001127222.2(CACNA1A):c.5529-1152C>T
|
rs1425881157
|
|
|
NM_001127222.2(CACNA1A):c.5529-1153C>T
|
rs1600124141
|
|
|
NM_001127222.2(CACNA1A):c.5529-1187T>C
|
rs201292159
|
|
|
NM_001127222.2(CACNA1A):c.5529-1211C>T
|
rs1266486228
|
|
|
NM_001127222.2(CACNA1A):c.5529-1217C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.5529-1262G>T
|
rs1600124326
|
|
|
NM_001127222.2(CACNA1A):c.5529-1264C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.5529-1272T>G
|
rs2144616954
|
|
|
NM_001127222.2(CACNA1A):c.5529-1276_5529-1274del
|
rs1436224214
|
|
|
NM_001127222.2(CACNA1A):c.5529-1277T>C
|
|
|
|
NM_001127222.2(CACNA1A):c.5626-11G>T
|
rs2055373094
|
|
|
NM_001127222.2(CACNA1A):c.5626-12G>T
|
|
|
|
NM_001127222.2(CACNA1A):c.5626-5T>C
|
|
|
|
NM_001127222.2(CACNA1A):c.5636G>A (p.Arg1879Gln)
|
rs1010331313
|
|
|
NM_001127222.2(CACNA1A):c.5644C>T (p.Leu1882=)
|
|
|
|
NM_001127222.2(CACNA1A):c.5649C>T (p.Pro1883=)
|
|
|
|
NM_001127222.2(CACNA1A):c.5667C>T (p.Thr1889=)
|
rs750667873
|
|
|
NM_001127222.2(CACNA1A):c.5678A>G (p.Asn1893Ser)
|
|
|
|
NM_001127222.2(CACNA1A):c.5685C>T (p.Thr1895=)
|
rs757291476
|
|
|
NM_001127222.2(CACNA1A):c.5703C>A (p.Arg1901=)
|
rs1600114408
|
|
|
NM_001127222.2(CACNA1A):c.5703C>T (p.Arg1901=)
|
|
|
|
NM_001127222.2(CACNA1A):c.5731+11G>A
|
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|
|
NM_001127222.2(CACNA1A):c.5731+18G>A
|
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|
NM_001127222.2(CACNA1A):c.5732-11C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.5732-12C>A
|
|
|
|
NM_001127222.2(CACNA1A):c.5732-19G>A
|
|
|
|
NM_001127222.2(CACNA1A):c.5732-7A>G
|
|
|
|
NM_001127222.2(CACNA1A):c.5732-9C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.5733A>G (p.Gly1911=)
|
rs758357771
|
|
|
NM_001127222.2(CACNA1A):c.5733A>T (p.Gly1911=)
|
|
|
|
NM_001127222.2(CACNA1A):c.5741A>G (p.Asp1914Gly)
|
|
|
|
NM_001127222.2(CACNA1A):c.5775G>A (p.Glu1925=)
|
rs2144537672
|
|
|
NM_001127222.2(CACNA1A):c.5814A>T (p.Leu1938=)
|
rs1001682236
|
|
|
NM_001127222.2(CACNA1A):c.5821C>T (p.Leu1941=)
|
rs2144537393
|
|
|
NM_001127222.2(CACNA1A):c.5839+20C>T
|
rs2144537107
|
|
|
NM_001127222.2(CACNA1A):c.5839+7G>A
|
rs1568426023
|
|
|
NM_001127222.2(CACNA1A):c.5839+9T>G
|
|
|
|
NM_001127222.2(CACNA1A):c.5840-12G>T
|
|
|
|
NM_001127222.2(CACNA1A):c.5840-17C>A
|
rs556502230
|
|
|
NM_001127222.2(CACNA1A):c.5840-17C>T
|
rs556502230
|
|
|
NM_001127222.2(CACNA1A):c.5840-19A>G
|
|
|
|
NM_001127222.2(CACNA1A):c.5840-8G>A
|
rs2054921364
|
|
|
NM_001127222.2(CACNA1A):c.5865C>A (p.Ile1955=)
|
|
|
|
NM_001127222.2(CACNA1A):c.5874C>T (p.Ala1958=)
|
rs2054919743
|
|
|
NM_001127222.2(CACNA1A):c.588A>G (p.Ala196=)
|
rs1301991287
|
|
|
NM_001127222.2(CACNA1A):c.5896C>T (p.Arg1966Trp)
|
rs1269205597
|
|
|
NM_001127222.2(CACNA1A):c.5904C>T (p.Ser1968=)
|
rs761152800
|
|
|
NM_001127222.2(CACNA1A):c.5907G>A (p.Lys1969=)
|
rs1364247722
|
|
|
NM_001127222.2(CACNA1A):c.5913G>A (p.Lys1971=)
|
rs990134708
|
|
|
NM_001127222.2(CACNA1A):c.5929C>T (p.Arg1977Cys)
|
|
|
|
NM_001127222.2(CACNA1A):c.5940+15G>A
|
rs370364972
|
|
|
NM_001127222.2(CACNA1A):c.5940+15G>C
|
rs370364972
|
|
|
NM_001127222.2(CACNA1A):c.5940+18C>G
|
rs1057522421
|
|
|
NM_001127222.2(CACNA1A):c.5940+8G>C
|
|
|
|
NM_001127222.2(CACNA1A):c.5941-10C>A
|
|
|
|
NM_001127222.2(CACNA1A):c.5941-12C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.5941-5C>G
|
|
|
|
NM_001127222.2(CACNA1A):c.5952C>A (p.Pro1984=)
|
rs1600090248
|
|
|
NM_001127222.2(CACNA1A):c.5955C>A (p.Leu1985=)
|
rs2054861464
|
|
|
NM_001127222.2(CACNA1A):c.5961C>T (p.Phe1987=)
|
|
|
|
NM_001127222.2(CACNA1A):c.5964G>C (p.Gln1988His)
|
|
|
|
NM_001127222.2(CACNA1A):c.5967C>G (p.Arg1989=)
|
rs2144526589
|
|
|
NM_001127222.2(CACNA1A):c.5976C>G (p.Pro1992=)
|
|
|
|
NM_001127222.2(CACNA1A):c.5988G>A (p.Thr1996=)
|
rs17846933
|
|
|
NM_001127222.2(CACNA1A):c.5988G>C (p.Thr1996=)
|
|
|
|
NM_001127222.2(CACNA1A):c.6000A>G (p.Gly2000=)
|
|
|
|
NM_001127222.2(CACNA1A):c.6046G>A (p.Ala2016Thr)
|
|
|
|
NM_001127222.2(CACNA1A):c.6050+15T>C
|
rs2144525883
|
|
|
NM_001127222.2(CACNA1A):c.6051-11C>T
|
rs759586410
|
|
|
NM_001127222.2(CACNA1A):c.6051-13del
|
rs2144525353
|
|
|
NM_001127222.2(CACNA1A):c.6051-16del
|
rs2144525359
|
|
|
NM_001127222.2(CACNA1A):c.6051-18C>T
|
rs2144525399
|
|
|
NM_001127222.2(CACNA1A):c.6051-7C>G
|
rs776664699
|
|
|
NM_001127222.2(CACNA1A):c.6083C>T (p.Pro2028Leu)
|
rs370345937
|
|
|
NM_001127222.2(CACNA1A):c.6105C>T (p.Ala2035=)
|
rs2144524908
|
|
|
NM_001127222.2(CACNA1A):c.6132A>G (p.Thr2044=)
|
rs1333411586
|
|
|
NM_001127222.2(CACNA1A):c.6159C>A (p.Thr2053=)
|
rs767440240
|
|
|
NM_001127222.2(CACNA1A):c.6159C>T (p.Thr2053=)
|
rs767440240
|
|
|
NM_001127222.2(CACNA1A):c.6180T>C (p.Pro2060=)
|
rs2054847037
|
|
|
NM_001127222.2(CACNA1A):c.6183C>T (p.Asn2061=)
|
|
|
|
NM_001127222.2(CACNA1A):c.6189+10T>C
|
|
|
|
NM_001127222.2(CACNA1A):c.6189+17A>G
|
|
|
|
NM_001127222.2(CACNA1A):c.6189+8T>C
|
rs1600089260
|
|
|
NM_001127222.2(CACNA1A):c.618G>A (p.Val206=)
|
|
|
|
NM_001127222.2(CACNA1A):c.6190-13A>G
|
rs1600088809
|
|
|
NM_001127222.2(CACNA1A):c.6195G>A (p.Val2065=)
|
|
|
|
NM_001127222.2(CACNA1A):c.6198G>A (p.Glu2066=)
|
rs1600088725
|
|
|
NM_001127222.2(CACNA1A):c.6214A>G (p.Arg2072Gly)
|
rs541830363
|
|
|
NM_001127222.2(CACNA1A):c.6232A>G (p.Ser2078Gly)
|
|
|
|
NM_001127222.2(CACNA1A):c.6243C>T (p.Tyr2081=)
|
|
|
|
NM_001127222.2(CACNA1A):c.6265C>T (p.Arg2089Trp)
|
|
|
|
NM_001127222.2(CACNA1A):c.6277A>G (p.Met2093Val)
|
|
|
|
NM_001127222.2(CACNA1A):c.6291T>C (p.Pro2097=)
|
|
|
|
NM_001127222.2(CACNA1A):c.6303+12C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.6303+17C>G
|
|
|
|
NM_001127222.2(CACNA1A):c.6303+18T>C
|
|
|
|
NM_001127222.2(CACNA1A):c.6304-15A>T
|
|
|
|
NM_001127222.2(CACNA1A):c.6304-18C>T
|
rs933016243
|
|
|
NM_001127222.2(CACNA1A):c.6304-6T>G
|
|
|
|
NM_001127222.2(CACNA1A):c.6304-9C>G
|
rs928691437
|
|
|
NM_001127222.2(CACNA1A):c.6306G>A (p.Arg2102=)
|
rs557017447
|
|
|
NM_001127222.2(CACNA1A):c.631+15G>C
|
|
|
|
NM_001127222.2(CACNA1A):c.631+18C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.631+9G>A
|
|
|
|
NM_001127222.2(CACNA1A):c.632-15T>A
|
rs2144523661
|
|
|
NM_001127222.2(CACNA1A):c.632-20CT[3]
|
|
|
|
NM_001127222.2(CACNA1A):c.632-5C>T
|
rs1310830010
|
|
|
NM_001127222.2(CACNA1A):c.632-7C>A
|
rs1555774874
|
|
|
NM_001127222.2(CACNA1A):c.632-7C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.632-8C>G
|
rs762951690
|
|
|
NM_001127222.2(CACNA1A):c.6321A>C (p.Pro2107=)
|
rs2054776841
|
|
|
NM_001127222.2(CACNA1A):c.6339+10G>T
|
rs376238265
|
|
|
NM_001127222.2(CACNA1A):c.6339+13C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.6339+16G>A
|
|
|
|
NM_001127222.2(CACNA1A):c.6340-5C>G
|
rs991192417
|
|
|
NM_001127222.2(CACNA1A):c.6340-7C>T
|
rs765609971
|
|
|
NM_001127222.2(CACNA1A):c.6357C>T (p.Ser2119=)
|
rs866806995
|
|
|
NM_001127222.2(CACNA1A):c.6366G>A (p.Lys2122=)
|
rs1208181261
|
|
|
NM_001127222.2(CACNA1A):c.63C>A (p.Ala21=)
|
rs946116668
|
|
|
NM_001127222.2(CACNA1A):c.6422A>G (p.Glu2141Gly)
|
|
|
|
NM_001127222.2(CACNA1A):c.6424C>A (p.Arg2142=)
|
|
|
|
NM_001127222.2(CACNA1A):c.6435C>G (p.Pro2145=)
|
|
|
|
NM_001127222.2(CACNA1A):c.6461G>A (p.Arg2154Gln)
|
|
|
|
NM_001127222.2(CACNA1A):c.6461G>T (p.Arg2154Leu)
|
rs754317278
|
|
|
NM_001127222.2(CACNA1A):c.6466C>G (p.Arg2156Gly)
|
rs554393704
|
|
|
NM_001127222.2(CACNA1A):c.6466C>T (p.Arg2156Cys)
|
rs554393704
|
|
|
NM_001127222.2(CACNA1A):c.6474C>A (p.Arg2158=)
|
rs368016666
|
|
|
NM_001127222.2(CACNA1A):c.6477C>T (p.Ser2159=)
|
|
|
|
NM_001127222.2(CACNA1A):c.6516T>C (p.Asp2172=)
|
|
|
|
NM_001127222.2(CACNA1A):c.6526+11C>A
|
|
|
|
NM_001127222.2(CACNA1A):c.6526+13G>A
|
|
|
|
NM_001127222.2(CACNA1A):c.6526+16G>A
|
rs2144505254
|
|
|
NM_001127222.2(CACNA1A):c.6526+7A>C
|
rs972428713
|
|
|
NM_001127222.2(CACNA1A):c.6527-10C>A
|
|
|
|
NM_001127222.2(CACNA1A):c.6527-11A>G
|
|
|
|
NM_001127222.2(CACNA1A):c.6527-4C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.6528C>T (p.Gly2176=)
|
rs2054695798
|
|
|
NM_001127222.2(CACNA1A):c.6529T>C (p.Leu2177=)
|
|
|
|
NM_001127222.2(CACNA1A):c.6540C>T (p.Asp2180=)
|
rs2144502990
|
|
|
NM_001127222.2(CACNA1A):c.654G>C (p.Ser218=)
|
rs201991581
|
|
|
NM_001127222.2(CACNA1A):c.6576G>A (p.Ser2192=)
|
rs770657980
|
|
|
NM_001127222.2(CACNA1A):c.6579G>A (p.Lys2193=)
|
|
|
|
NM_001127222.2(CACNA1A):c.6583C>T (p.Arg2195Trp)
|
rs1463901630
|
|
|
NM_001127222.2(CACNA1A):c.6585G>C (p.Arg2195=)
|
rs2144502704
|
|
|
NM_001127222.2(CACNA1A):c.6587_6598del (p.Asp2196_Arg2199del)
|
rs763941704
|
|
|
NM_001127222.2(CACNA1A):c.6603G>A (p.Arg2201=)
|
|
|
|
NM_001127222.2(CACNA1A):c.6615G>A (p.Arg2205=)
|
rs2054690020
|
|
|
NM_001127222.2(CACNA1A):c.6623G>A (p.Arg2208Gln)
|
|
|
|
NM_001127222.2(CACNA1A):c.6630CCA[8] (p.His2219del)
|
rs759331923
|
|
|
NM_001127222.2(CACNA1A):c.6636C>T (p.His2212=)
|
rs1379281681
|
|
|
NM_001127222.2(CACNA1A):c.6642C>T (p.His2214=)
|
|
|
|
NM_001127222.2(CACNA1A):c.6651C>T (p.His2217=)
|
|
|
|
NM_001127222.2(CACNA1A):c.6666C>T (p.Pro2222=)
|
rs1196254519
|
|
|
NM_001127222.2(CACNA1A):c.666G>A (p.Ala222=)
|
|
|
|
NM_001127222.2(CACNA1A):c.666G>C (p.Ala222=)
|
|
|
|
NM_001127222.2(CACNA1A):c.6672C>T (p.Asp2224=)
|
|
|
|
NM_001127222.2(CACNA1A):c.6678C>T (p.Asp2226=)
|
|
|
|
NM_001127222.2(CACNA1A):c.6690G>A (p.Gln2230=)
|
rs2144501238
|
|
|
NM_001127222.2(CACNA1A):c.6702C>T (p.Asp2234=)
|
|
|
|
NM_001127222.2(CACNA1A):c.6721C>G (p.Arg2241Gly)
|
|
|
|
NM_001127222.2(CACNA1A):c.6723G>C (p.Arg2241=)
|
|
|
|
NM_001127222.2(CACNA1A):c.672C>T (p.Ile224=)
|
rs771429351
|
|
|
NM_001127222.2(CACNA1A):c.6732C>G (p.Arg2244=)
|
|
|
|
NM_001127222.2(CACNA1A):c.6766A>G (p.Met2256Val)
|
|
|
|
NM_001127222.2(CACNA1A):c.6771G>A (p.Ala2257=)
|
rs753884600
|
|
|
NM_001127222.2(CACNA1A):c.6771G>T (p.Ala2257=)
|
rs753884600
|
|
|
NM_001127222.2(CACNA1A):c.6775C>A (p.Arg2259=)
|
rs750267834
|
|
|
NM_001127222.2(CACNA1A):c.6780+13_6780+14delinsTT
|
rs2144500224
|
|
|
NM_001127222.2(CACNA1A):c.6780+19G>A
|
|
|
|
NM_001127222.2(CACNA1A):c.678G>A (p.Leu226=)
|
rs2144523263
|
|
|
NM_001127222.2(CACNA1A):c.6937CAG[14] (p.Gln2325dup)
|
rs16054
|
|
|
NM_001127222.2(CACNA1A):c.75G>C (p.Val25=)
|
|
|
|
NM_001127222.2(CACNA1A):c.784+16A>T
|
rs1445259892
|
|
|
NM_001127222.2(CACNA1A):c.785-17C>G
|
|
|
|
NM_001127222.2(CACNA1A):c.785-6T>C
|
|
|
|
NM_001127222.2(CACNA1A):c.78C>A (p.Gly26=)
|
|
|
|
NM_001127222.2(CACNA1A):c.810T>C (p.Ala270=)
|
|
|
|
NM_001127222.2(CACNA1A):c.819G>C (p.Gly273=)
|
|
|
|
NM_001127222.2(CACNA1A):c.831C>G (p.Pro277=)
|
rs568635317
|
|
|
NM_001127222.2(CACNA1A):c.843C>T (p.Cys281=)
|
rs2145245583
|
|
|
NM_001127222.2(CACNA1A):c.867C>G (p.Pro289=)
|
rs777059446
|
|
|
NM_001127222.2(CACNA1A):c.90G>A (p.Gly30=)
|
|
|
|
NM_001127222.2(CACNA1A):c.913C>T (p.Leu305=)
|
rs1599276914
|
|
|
NM_001127222.2(CACNA1A):c.91C>A (p.Arg31=)
|
|
|
|
NM_001127222.2(CACNA1A):c.936C>T (p.Phe312=)
|
|
|
|
NM_001127222.2(CACNA1A):c.969C>T (p.Leu323=)
|
rs1210220449
|
|
|
NM_001127222.2(CACNA1A):c.978+12T>C
|
rs755859875
|
|
|
NM_001127222.2(CACNA1A):c.978+12T>G
|
|
|
|
NM_001127222.2(CACNA1A):c.978+19G>A
|
|
|
|
NM_001127222.2(CACNA1A):c.979-13T>C
|
|
|
|
NM_001127222.2(CACNA1A):c.979-19C>G
|
rs2145140905
|
|
|
NM_001127222.2(CACNA1A):c.979-5T>A
|
rs2145140730
|
|
|
NM_001127222.2(CACNA1A):c.979-6C>G
|
rs773529741
|
|
|
NM_001127222.2(CACNA1A):c.979-8C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.979-9A>C
|
|
|
|
NM_001127222.2(CACNA1A):c.990C>G (p.Ala330=)
|
rs1555767932
|
|
|
NM_001130438.3(SPTAN1):c.1008A>G (p.Arg336=)
|
|
|
|
NM_001130438.3(SPTAN1):c.1014A>G (p.Glu338=)
|
|
|
|
NM_001130438.3(SPTAN1):c.1050G>A (p.Ala350=)
|
rs752710398
|
|
|
NM_001130438.3(SPTAN1):c.1066C>T (p.Arg356Trp)
|
rs370695453
|
|
|
NM_001130438.3(SPTAN1):c.1077T>C (p.Asp359=)
|
rs768294119
|
|
|
NM_001130438.3(SPTAN1):c.1080A>C (p.Ser360=)
|
rs1192539733
|
|
|
NM_001130438.3(SPTAN1):c.1080A>T (p.Ser360=)
|
|
|
|
NM_001130438.3(SPTAN1):c.1085+13C>A
|
|
|
|
NM_001130438.3(SPTAN1):c.1085+3_1085+4delinsTT
|
rs1851440097
|
|
|
NM_001130438.3(SPTAN1):c.1085+8T>G
|
|
|
|
NM_001130438.3(SPTAN1):c.1086-11G>C
|
|
|
|
NM_001130438.3(SPTAN1):c.1086-18_1086-17delinsAA
|
rs1554742449
|
|
|
NM_001130438.3(SPTAN1):c.1113T>C (p.Arg371=)
|
rs769668578
|
|
|
NM_001130438.3(SPTAN1):c.1116C>T (p.Asp372=)
|
|
|
|
NM_001130438.3(SPTAN1):c.1119C>T (p.Leu373=)
|
rs1239261034
|
|
|
NM_001130438.3(SPTAN1):c.1131G>A (p.Val377=)
|
|
|
|
NM_001130438.3(SPTAN1):c.1149C>T (p.Leu383=)
|
rs2131029682
|
|
|
NM_001130438.3(SPTAN1):c.1158A>G (p.Ala386=)
|
|
|
|
NM_001130438.3(SPTAN1):c.1164G>A (p.Glu388=)
|
|
|
|
NM_001130438.3(SPTAN1):c.1176T>C (p.Asp392=)
|
rs758571561
|
|
|
NM_001130438.3(SPTAN1):c.1179G>C (p.Val393=)
|
|
|
|
NM_001130438.3(SPTAN1):c.1186G>A (p.Ala396Thr)
|
rs1851525959
|
|
|
NM_001130438.3(SPTAN1):c.120G>A (p.Leu40=)
|
rs2132958989
|
|
|
NM_001130438.3(SPTAN1):c.1218C>T (p.His406=)
|
rs2131030883
|
|
|
NM_001130438.3(SPTAN1):c.1221+13C>G
|
|
|
|
NM_001130438.3(SPTAN1):c.1221+7G>A
|
|
|
|
NM_001130438.3(SPTAN1):c.1221+8T>C
|
|
|
|
NM_001130438.3(SPTAN1):c.1222-16T>G
|
|
|
|
NM_001130438.3(SPTAN1):c.1222-17G>C
|
|
|
|
NM_001130438.3(SPTAN1):c.1222-20T>C
|
|
|
|
NM_001130438.3(SPTAN1):c.1222-4G>T
|
|
|
|
NM_001130438.3(SPTAN1):c.1222-6C>T
|
|
|
|
NM_001130438.3(SPTAN1):c.1222-7C>A
|
rs2131060807
|
|
|
NM_001130438.3(SPTAN1):c.1239T>C (p.His413=)
|
rs1851707590
|
|
|
NM_001130438.3(SPTAN1):c.1251C>T (p.Phe417=)
|
rs2131061265
|
|
|
NM_001130438.3(SPTAN1):c.1263T>C (p.Asp421=)
|
|
|
|
NM_001130438.3(SPTAN1):c.1269T>C (p.Ser423=)
|
|
|
|
NM_001130438.3(SPTAN1):c.1271G>T (p.Gly424Val)
|
rs2131061695
|
|
|
NM_001130438.3(SPTAN1):c.1281G>C (p.Leu427=)
|
|
|
|
NM_001130438.3(SPTAN1):c.1287T>C (p.Ala429=)
|
|
|
|
NM_001130438.3(SPTAN1):c.129C>A (p.Ser43=)
|
|
|
|
NM_001130438.3(SPTAN1):c.1308T>C (p.Asp436=)
|
|
|
|
NM_001130438.3(SPTAN1):c.1323+15A>C
|
rs756784077
|
|
|
NM_001130438.3(SPTAN1):c.1324-20A>T
|
|
|
|
NM_001130438.3(SPTAN1):c.1324-4C>A
|
rs2131087438
|
|
|
NM_001130438.3(SPTAN1):c.1324-7C>T
|
|
|
|
NM_001130438.3(SPTAN1):c.133C>A (p.Arg45=)
|
|
|
|
NM_001130438.3(SPTAN1):c.1350G>T (p.Ala450=)
|
|
|
|
NM_001130438.3(SPTAN1):c.1353G>A (p.Ala451=)
|
|
|
|
NM_001130438.3(SPTAN1):c.1362G>A (p.Glu454=)
|
rs144590741
|
|
|
NM_001130438.3(SPTAN1):c.1380G>A (p.Arg460=)
|
|
|
|
NM_001130438.3(SPTAN1):c.1395G>A (p.Gln465=)
|
rs1851874223
|
|
|
NM_001130438.3(SPTAN1):c.1399A>G (p.Met467Val)
|
rs1851874498
|
|
|
NM_001130438.3(SPTAN1):c.1443C>T (p.Asn481=)
|
|
|
|
NM_001130438.3(SPTAN1):c.1461+15A>C
|
|
|
|
NM_001130438.3(SPTAN1):c.1461+19C>G
|
|
|
|
NM_001130438.3(SPTAN1):c.1464G>A (p.Ala488=)
|
|
|
|
NM_001130438.3(SPTAN1):c.1468C>T (p.Leu490=)
|
|
|
|
NM_001130438.3(SPTAN1):c.1497G>A (p.Leu499=)
|
|
|
|
NM_001130438.3(SPTAN1):c.154G>A (p.Asp52Asn)
|
rs1564194636
|
|
|
NM_001130438.3(SPTAN1):c.1572+8C>T
|
rs2131109494
|
|
|
NM_001130438.3(SPTAN1):c.1573-11T>G
|
|
|
|
NM_001130438.3(SPTAN1):c.1573-14A>G
|
|
|
|
NM_001130438.3(SPTAN1):c.1573-4C>G
|
|
|
|
NM_001130438.3(SPTAN1):c.1573-6_1573-3del
|
rs758557229
|
|
|
NM_001130438.3(SPTAN1):c.159T>A (p.Ala53=)
|
|
|
|
NM_001130438.3(SPTAN1):c.1650+13G>A
|
rs2131124699
|
|
|
NM_001130438.3(SPTAN1):c.1650+20A>G
|
rs1589212297
|
|
|
NM_001130438.3(SPTAN1):c.1650+8T>C
|
rs2131124451
|
|
|
NM_001130438.3(SPTAN1):c.1653G>A (p.Leu551=)
|
rs2131127973
|
|
|
NM_001130438.3(SPTAN1):c.1662C>T (p.Arg554=)
|
rs1398071492
|
|
|
NM_001130438.3(SPTAN1):c.1668T>C (p.Asn556=)
|
rs1406334272
|
|
|
NM_001130438.3(SPTAN1):c.1698G>A (p.Arg566=)
|
rs2131129556
|
|
|
NM_001130438.3(SPTAN1):c.1767C>T (p.Val589=)
|
|
|
|
NM_001130438.3(SPTAN1):c.1778T>C (p.Met593Thr)
|
rs1382899008
|
|
|
NM_001130438.3(SPTAN1):c.1806+18T>A
|
|
|
|
NM_001130438.3(SPTAN1):c.1807-13_1807-11del
|
|
|
|
NM_001130438.3(SPTAN1):c.1807-16C>A
|
|
|
|
NM_001130438.3(SPTAN1):c.1807-16C>G
|
|
|
|
NM_001130438.3(SPTAN1):c.1807-17C>T
|
rs1057524223
|
|
|
NM_001130438.3(SPTAN1):c.1807-9T>C
|
|
|
|
NM_001130438.3(SPTAN1):c.1833A>G (p.Val611=)
|
rs2131137645
|
|
|
NM_001130438.3(SPTAN1):c.1866A>G (p.Ser622=)
|
|
|
|
NM_001130438.3(SPTAN1):c.1881A>C (p.Arg627=)
|
|
|
|
NM_001130438.3(SPTAN1):c.190C>A (p.Leu64Ile)
|
rs1589149870
|
|
|
NM_001130438.3(SPTAN1):c.1929C>T (p.His643=)
|
|
|
|
NM_001130438.3(SPTAN1):c.195G>A (p.Gln65=)
|
rs2132960242
|
|
|
NM_001130438.3(SPTAN1):c.1992A>G (p.Leu664=)
|
|
|
|
NM_001130438.3(SPTAN1):c.2011+11T>C
|
|
|
|
NM_001130438.3(SPTAN1):c.2011+15A>G
|
|
|
|
NM_001130438.3(SPTAN1):c.2011+16T>C
|
|
|
|
NM_001130438.3(SPTAN1):c.2011+18G>A
|
|
|
|
NM_001130438.3(SPTAN1):c.2012-4A>G
|
|
|
|
NM_001130438.3(SPTAN1):c.2019G>A (p.Lys673=)
|
|
|
|
NM_001130438.3(SPTAN1):c.201A>G (p.Ala67=)
|
|
|
|
NM_001130438.3(SPTAN1):c.2082A>T (p.Leu694=)
|
rs2131151846
|
|
|
NM_001130438.3(SPTAN1):c.2094A>C (p.Glu698Asp)
|
rs1554746116
|
|
|
NM_001130438.3(SPTAN1):c.210G>A (p.Glu70=)
|
|
|
|
NM_001130438.3(SPTAN1):c.2148C>G (p.Leu716=)
|
|
|
|
NM_001130438.3(SPTAN1):c.2148C>T (p.Leu716=)
|
|
|
|
NM_001130438.3(SPTAN1):c.2175A>G (p.Ala725=)
|
rs2131153544
|
|
|
NM_001130438.3(SPTAN1):c.2187T>A (p.Ala729=)
|
|
|
|
NM_001130438.3(SPTAN1):c.2193+13G>A
|
|
|
|
NM_001130438.3(SPTAN1):c.2193+14G>A
|
|
|
|
NM_001130438.3(SPTAN1):c.2193+15G>A
|
|
|
|
NM_001130438.3(SPTAN1):c.2193+17G>T
|
|
|
|
NM_001130438.3(SPTAN1):c.2193+18C>A
|
|
|
|
NM_001130438.3(SPTAN1):c.2194-15C>T
|
|
|
|
NM_001130438.3(SPTAN1):c.2194-20C>T
|
|
|
|
NM_001130438.3(SPTAN1):c.2196C>T (p.Asp732=)
|
rs757365265
|
|
|
NM_001130438.3(SPTAN1):c.2207G>A (p.Gly736Asp)
|
rs868177632
|
|
|
NM_001130438.3(SPTAN1):c.2262C>T (p.Asn754=)
|
|
|
|
NM_001130438.3(SPTAN1):c.2289G>A (p.Val763=)
|
|
|
|
NM_001130438.3(SPTAN1):c.2298T>C (p.Tyr766=)
|
rs2131162364
|
|
|
NM_001130438.3(SPTAN1):c.2304A>C (p.Ala768=)
|
rs750518161
|
|
|
NM_001130438.3(SPTAN1):c.2304A>G (p.Ala768=)
|
rs750518161
|
|
|
NM_001130438.3(SPTAN1):c.2316C>G (p.Pro772=)
|
rs2131162953
|
|
|
NM_001130438.3(SPTAN1):c.2322T>G (p.Val774=)
|
rs1852316309
|
|
|
NM_001130438.3(SPTAN1):c.2338C>T (p.Leu780=)
|
|
|
|
NM_001130438.3(SPTAN1):c.2340G>A (p.Leu780=)
|
|
|
|
NM_001130438.3(SPTAN1):c.2343C>T (p.Ala781=)
|
rs34084388
|
|
|
NM_001130438.3(SPTAN1):c.2343_2344delinsAA (p.Asp782Asn)
|
|
|
|
NM_001130438.3(SPTAN1):c.2350C>T (p.Leu784=)
|
rs2131163659
|
|
|
NM_001130438.3(SPTAN1):c.237+12C>T
|
|
|
|
NM_001130438.3(SPTAN1):c.237+9G>C
|
rs368690134
|
|
|
NM_001130438.3(SPTAN1):c.238-13G>A
|
|
|
|
NM_001130438.3(SPTAN1):c.2401C>A (p.Arg801=)
|
rs2131164463
|
|
|
NM_001130438.3(SPTAN1):c.2421C>A (p.Ala807=)
|
rs1329573763
|
|
|
NM_001130438.3(SPTAN1):c.2437+13C>T
|
|
|
|
NM_001130438.3(SPTAN1):c.2438-14del
|
rs1459543412
|
|
|
NM_001130438.3(SPTAN1):c.2438-19G>A
|
rs760955571
|
|
|
NM_001130438.3(SPTAN1):c.2439T>C (p.Gly813=)
|
rs2131169619
|
|
|
NM_001130438.3(SPTAN1):c.2457C>T (p.Val819=)
|
rs2131169778
|
|
|
NM_001130438.3(SPTAN1):c.2466G>A (p.Leu822=)
|
rs2131169980
|
|
|
NM_001130438.3(SPTAN1):c.2481A>T (p.Gln827His)
|
rs764460035
|
|
|
NM_001130438.3(SPTAN1):c.2513C>T (p.Pro838Leu)
|
rs1589220462
|
|
|
NM_001130438.3(SPTAN1):c.2517C>T (p.Arg839=)
|
rs2131170700
|
|
|
NM_001130438.3(SPTAN1):c.252G>A (p.Lys84=)
|
|
|
|
NM_001130438.3(SPTAN1):c.2538G>A (p.Lys846=)
|
rs754477004
|
|
|
NM_001130438.3(SPTAN1):c.2541G>A (p.Gly847=)
|
|
|
|
NM_001130438.3(SPTAN1):c.2547C>G (p.Ala849=)
|
rs1554746826
|
|
|
NM_001130438.3(SPTAN1):c.2547C>T (p.Ala849=)
|
|
|
|
NM_001130438.3(SPTAN1):c.2560+10T>C
|
rs2131171607
|
|
|
NM_001130438.3(SPTAN1):c.2560+19T>C
|
rs2131171763
|
|
|
NM_001130438.3(SPTAN1):c.2560+8_2560+11del
|
|
|
|
NM_001130438.3(SPTAN1):c.2560+9T>G
|
|
|
|
NM_001130438.3(SPTAN1):c.2561-10C>T
|
rs1268108012
|
|
|
NM_001130438.3(SPTAN1):c.2561-8T>C
|
|
|
|
NM_001130438.3(SPTAN1):c.2580T>C (p.Asp860=)
|
rs1589223768
|
|
|
NM_001130438.3(SPTAN1):c.2592G>A (p.Lys864=)
|
rs2131193482
|
|
|
NM_001130438.3(SPTAN1):c.2604G>A (p.Leu868=)
|
|
|
|
NM_001130438.3(SPTAN1):c.2652G>A (p.Gln884=)
|
|
|
|
NM_001130438.3(SPTAN1):c.2656C>T (p.Leu886=)
|
|
|
|
NM_001130438.3(SPTAN1):c.2721G>A (p.Arg907=)
|
|
|
|
NM_001130438.3(SPTAN1):c.2733C>T (p.Pro911=)
|
rs768756536
|
|
|
NM_001130438.3(SPTAN1):c.2736T>C (p.Ile912=)
|
|
|
|
NM_001130438.3(SPTAN1):c.2752T>A (p.Tyr918Asn)
|
rs1589224403
|
|
|
NM_001130438.3(SPTAN1):c.276G>A (p.Val92=)
|
|
|
|
NM_001130438.3(SPTAN1):c.2778+10C>A
|
rs369106919
|
|
|
NM_001130438.3(SPTAN1):c.2778+11G>A
|
|
|
|
NM_001130438.3(SPTAN1):c.2778+19C>T
|
|
|
|
NM_001130438.3(SPTAN1):c.2778+9G>C
|
rs2131197048
|
|
|
NM_001130438.3(SPTAN1):c.2779-13G>A
|
|
|
|
NM_001130438.3(SPTAN1):c.2779-18G>A
|
|
|
|
NM_001130438.3(SPTAN1):c.2779-20A>C
|
|
|
|
NM_001130438.3(SPTAN1):c.2781T>C (p.Ala927=)
|
rs1263461316
|
|
|
NM_001130438.3(SPTAN1):c.2781T>G (p.Ala927=)
|
rs1263461316
|
|
|
NM_001130438.3(SPTAN1):c.2784A>G (p.Leu928=)
|
rs1428549846
|
|
|
NM_001130438.3(SPTAN1):c.2785C>T (p.Leu929=)
|
rs1057522083
|
|
|
NM_001130438.3(SPTAN1):c.279G>A (p.Gln93=)
|
rs1238640716
|
|
|
NM_001130438.3(SPTAN1):c.2811A>G (p.Ser937=)
|
rs2131238281
|
|
|
NM_001130438.3(SPTAN1):c.282C>T (p.Ala94=)
|
|
|
|
NM_001130438.3(SPTAN1):c.2850A>G (p.Arg950=)
|
|
|
|
NM_001130438.3(SPTAN1):c.2869C>A (p.Arg957=)
|
|
|
|
NM_001130438.3(SPTAN1):c.2872-14del
|
rs1853033407
|
|
|
NM_001130438.3(SPTAN1):c.2872-20_2872-10del
|
|
|
|
NM_001130438.3(SPTAN1):c.288A>G (p.Ser96=)
|
|
|
|
NM_001130438.3(SPTAN1):c.2901T>C (p.Thr967=)
|
|
|
|
NM_001130438.3(SPTAN1):c.2916C>G (p.Val972=)
|
|
|
|
NM_001130438.3(SPTAN1):c.2916C>T (p.Val972=)
|
|
|
|
NM_001130438.3(SPTAN1):c.2952A>G (p.Arg984=)
|
rs1336849990
|
|
|
NM_001130438.3(SPTAN1):c.3006+10A>C
|
|
|
|
NM_001130438.3(SPTAN1):c.3006+13G>A
|
|
|
|
NM_001130438.3(SPTAN1):c.3006+17G>A
|
rs1853056982
|
|
|
NM_001130438.3(SPTAN1):c.3007-16C>T
|
|
|
|
NM_001130438.3(SPTAN1):c.3007-3del
|
rs1589245726
|
|
|
NM_001130438.3(SPTAN1):c.3007-5C>G
|
|
|
|
NM_001130438.3(SPTAN1):c.3045T>C (p.Phe1015=)
|
|
|
|
NM_001130438.3(SPTAN1):c.3048G>T (p.Val1016=)
|
|
|
|
NM_001130438.3(SPTAN1):c.3057G>A (p.Ala1019=)
|
rs759833805
|
|
|
NM_001130438.3(SPTAN1):c.3057G>T (p.Ala1019=)
|
rs759833805
|
|
|
NM_001130438.3(SPTAN1):c.3081C>A (p.Ala1027=)
|
|
|
|
NM_001130438.3(SPTAN1):c.3087A>G (p.Ser1029=)
|
|
|
|
NM_001130438.3(SPTAN1):c.3088G>C (p.Ala1030Pro)
|
rs1554751018
|
|
|
NM_001130438.3(SPTAN1):c.3094C>A (p.Arg1032=)
|
|
|
|
NM_001130438.3(SPTAN1):c.3155+11C>T
|
|
|
|
NM_001130438.3(SPTAN1):c.3156-12C>A
|
rs1328344344
|
|
|
NM_001130438.3(SPTAN1):c.3156-15G>A
|
|
|
|
NM_001130438.3(SPTAN1):c.3156-17G>C
|
|
|
|
NM_001130438.3(SPTAN1):c.315T>C (p.Thr105=)
|
rs1182605348
|
|
|
NM_001130438.3(SPTAN1):c.3177C>G (p.Ala1059=)
|
rs369531936
|
|
|
NM_001130438.3(SPTAN1):c.3215+11T>C
|
|
|
|
NM_001130438.3(SPTAN1):c.3215+12G>T
|
|
|
|
NM_001130438.3(SPTAN1):c.3215+15A>T
|
rs367678277
|
|
|
NM_001130438.3(SPTAN1):c.3215+15_3215+16del
|
rs551595039
|
|
|
NM_001130438.3(SPTAN1):c.3215+9G>A
|
|
|
|
NM_001130438.3(SPTAN1):c.3216-17C>G
|
rs376147583
|
|
|
NM_001130438.3(SPTAN1):c.3216-17C>T
|
|
|
|
NM_001130438.3(SPTAN1):c.3228G>A (p.Leu1076=)
|
|
|
|
NM_001130438.3(SPTAN1):c.3267G>A (p.Lys1089=)
|
rs2131360582
|
|
|
NM_001130438.3(SPTAN1):c.3321C>T (p.Ile1107=)
|
|
|
|
NM_001130438.3(SPTAN1):c.3336C>T (p.Ala1112=)
|
|
|
|
NM_001130438.3(SPTAN1):c.3360A>G (p.Gly1120=)
|
|
|
|
NM_001130438.3(SPTAN1):c.3390G>A (p.Gln1130=)
|
rs2131361631
|
|
|
NM_001130438.3(SPTAN1):c.3414+12C>T
|
rs2131361950
|
|
|
NM_001130438.3(SPTAN1):c.3415-14C>T
|
|
|
|
NM_001130438.3(SPTAN1):c.348A>G (p.Ala116=)
|
|
|
|
NM_001130438.3(SPTAN1):c.3512A>G (p.Gln1171Arg)
|
rs2131438786
|
|
|
NM_001130438.3(SPTAN1):c.3519+5GT[3]
|
|
|
|
NM_001130438.3(SPTAN1):c.3519+7G>A
|
|
|
|
NM_001130438.3(SPTAN1):c.3519+9C>G
|
|
|
|
NM_001130438.3(SPTAN1):c.3520-15T>C
|
|
|
|
NM_001130438.3(SPTAN1):c.3520-17TC[6]
|
|
|
|
NM_001130438.3(SPTAN1):c.3528T>C (p.Tyr1176=)
|
rs1589272670
|
|
|
NM_001130438.3(SPTAN1):c.3540C>G (p.Pro1180=)
|
rs1060504932
|
|
|
NM_001130438.3(SPTAN1):c.3543+13T>C
|
|
|
|
NM_001130438.3(SPTAN1):c.3543+14G>C
|
|
|
|
NM_001130438.3(SPTAN1):c.3543+16TG[3]
|
|
|
|
NM_001130438.3(SPTAN1):c.3543+19G>A
|
|
|
|
NM_001130438.3(SPTAN1):c.3544-15T>G
|
rs2131474529
|
|
|
NM_001130438.3(SPTAN1):c.3544-17C>T
|
|
|
|
NM_001130438.3(SPTAN1):c.3544-7dup
|
|
|
|
NM_001130438.3(SPTAN1):c.3567C>A (p.Ala1189=)
|
rs2131475513
|
|
|
NM_001130438.3(SPTAN1):c.3573G>A (p.Pro1191=)
|
rs781021400
|
|
|
NM_001130438.3(SPTAN1):c.3579+21del
|
rs2131476505
|
|
|
NM_001130438.3(SPTAN1):c.3579+8C>A
|
rs1854910788
|
|
|
NM_001130438.3(SPTAN1):c.3580-5_3580-2del
|
rs754528571
|
|
|
NM_001130438.3(SPTAN1):c.3580-8C>G
|
|
|
|
NM_001130438.3(SPTAN1):c.3603C>T (p.Thr1201=)
|
|
|
|
NM_001130438.3(SPTAN1):c.3628-10T>C
|
rs975869088
|
|
|
NM_001130438.3(SPTAN1):c.3628-16T>C
|
|
|
|
NM_001130438.3(SPTAN1):c.3628-18T>C
|
rs2131557625
|
|
|
NM_001130438.3(SPTAN1):c.3628-19A>T
|
rs1054939979
|
|
|
NM_001130438.3(SPTAN1):c.363+14G>A
|
|
|
|
NM_001130438.3(SPTAN1):c.363+18G>T
|
|
|
|
NM_001130438.3(SPTAN1):c.364-14T>A
|
rs1851102352
|
|
|
NM_001130438.3(SPTAN1):c.364-20C>T
|
rs780867742
|
|
|
NM_001130438.3(SPTAN1):c.364-7C>T
|
|
|
|
NM_001130438.3(SPTAN1):c.3663G>A (p.Leu1221=)
|
|
|
|
NM_001130438.3(SPTAN1):c.3666C>T (p.Ala1222=)
|
rs372831978
|
|
|
NM_001130438.3(SPTAN1):c.366C>T (p.Thr122=)
|
|
|
|
NM_001130438.3(SPTAN1):c.3719+12_3719+14del
|
rs1013786773
|
|
|
NM_001130438.3(SPTAN1):c.3719+13C>A
|
rs558756418
|
|
|
NM_001130438.3(SPTAN1):c.3719+13C>G
|
|
|
|
NM_001130438.3(SPTAN1):c.3719+14C>T
|
rs2131559207
|
|
|
NM_001130438.3(SPTAN1):c.3719+16T>C
|
|
|
|
NM_001130438.3(SPTAN1):c.3719+18G>A
|
rs2131559361
|
|
|
NM_001130438.3(SPTAN1):c.3719+19G>T
|
|
|
|
NM_001130438.3(SPTAN1):c.3720-17A>G
|
|
|
|
NM_001130438.3(SPTAN1):c.3720-8G>C
|
|
|
|
NM_001130438.3(SPTAN1):c.3720-9C>T
|
|
|
|
NM_001130438.3(SPTAN1):c.3722A>G (p.Asp1241Gly)
|
rs2131571144
|
|
|
NM_001130438.3(SPTAN1):c.372G>A (p.Leu124=)
|
|
|
|
NM_001130438.3(SPTAN1):c.3783T>C (p.Tyr1261=)
|
rs1589296050
|
|
|
NM_001130438.3(SPTAN1):c.3789T>C (p.His1263=)
|
rs1855655548
|
|
|
NM_001130438.3(SPTAN1):c.3804C>T (p.Val1268=)
|
|
|
|
NM_001130438.3(SPTAN1):c.3810C>T (p.Ala1270=)
|
|
|
|
NM_001130438.3(SPTAN1):c.3817C>T (p.Arg1273Cys)
|
rs1160926095
|
|
|
NM_001130438.3(SPTAN1):c.381G>A (p.Leu127=)
|
|
|
|
NM_001130438.3(SPTAN1):c.3834C>T (p.Phe1278=)
|
rs1589296272
|
|
|
NM_001130438.3(SPTAN1):c.3840G>A (p.Arg1280=)
|
|
|
|
NM_001130438.3(SPTAN1):c.3855C>T (p.Leu1285=)
|
rs370435310
|
|
|
NM_001130438.3(SPTAN1):c.3864+10C>A
|
|
|
|
NM_001130438.3(SPTAN1):c.3864+16G>A
|
rs2131573539
|
|
|
NM_001130438.3(SPTAN1):c.3865-16C>A
|
|
|
|
NM_001130438.3(SPTAN1):c.3865-4A>T
|
rs769349794
|
|
|
NM_001130438.3(SPTAN1):c.3865-8T>C
|
rs1197311171
|
|
|
NM_001130438.3(SPTAN1):c.3867A>C (p.Val1289=)
|
|
|
|
NM_001130438.3(SPTAN1):c.3885A>G (p.Thr1295=)
|
|
|
|
NM_001130438.3(SPTAN1):c.3903G>T (p.Gln1301His)
|
rs1232892387
|
|
|
NM_001130438.3(SPTAN1):c.3906C>G (p.Ser1302=)
|
rs1855689306
|
|
|
NM_001130438.3(SPTAN1):c.3981T>G (p.Arg1327=)
|
rs1855698042
|
|
|
NM_001130438.3(SPTAN1):c.3999A>G (p.Ala1333=)
|
|
|
|
NM_001130438.3(SPTAN1):c.4011C>T (p.Asp1337=)
|
rs1296309754
|
|
|
NM_001130438.3(SPTAN1):c.4020C>T (p.Asp1340=)
|
rs2131577299
|
|
|
NM_001130438.3(SPTAN1):c.4023G>C (p.Leu1341=)
|
|
|
|
NM_001130438.3(SPTAN1):c.4029C>A (p.Arg1343=)
|
|
|
|
NM_001130438.3(SPTAN1):c.4046+11A>G
|
rs765778684
|
|
|
NM_001130438.3(SPTAN1):c.4046+12T>C
|
|
|
|
NM_001130438.3(SPTAN1):c.4047-14G>A
|
|
|
|
NM_001130438.3(SPTAN1):c.4047-14G>C
|
rs558154123
|
|
|
NM_001130438.3(SPTAN1):c.4047-18T>G
|
|
|
|
NM_001130438.3(SPTAN1):c.4048G>A (p.Asp1350Asn)
|
rs1564278818
|
|
|
NM_001130438.3(SPTAN1):c.4071A>G (p.Gly1357=)
|
|
|
|
NM_001130438.3(SPTAN1):c.4125G>A (p.Glu1375=)
|
|
|
|
NM_001130438.3(SPTAN1):c.4128A>T (p.Ala1376=)
|
rs2131613638
|
|
|
NM_001130438.3(SPTAN1):c.4138C>A (p.Arg1380=)
|
|
|
|
NM_001130438.3(SPTAN1):c.4143C>T (p.His1381=)
|
|
|
|
NM_001130438.3(SPTAN1):c.4146+10C>G
|
|
|
|
NM_001130438.3(SPTAN1):c.4146+12T>C
|
|
|
|
NM_001130438.3(SPTAN1):c.4147-10C>T
|
rs1856089219
|
|
|
NM_001130438.3(SPTAN1):c.4147-10_4147-8del
|
rs1589309345
|
|
|
NM_001130438.3(SPTAN1):c.4147-20C>A
|
|
|
|
NM_001130438.3(SPTAN1):c.4170C>T (p.Ala1390=)
|
rs1589309475
|
|
|
NM_001130438.3(SPTAN1):c.4197G>A (p.Glu1399=)
|
rs367635991
|
|
|
NM_001130438.3(SPTAN1):c.420A>G (p.Glu140=)
|
|
|
|
NM_001130438.3(SPTAN1):c.4215G>A (p.Leu1405=)
|
|
|
|
NM_001130438.3(SPTAN1):c.4215G>T (p.Leu1405=)
|
rs754607337
|
|
|
NM_001130438.3(SPTAN1):c.4227A>G (p.Gly1409=)
|
|
|
|
NM_001130438.3(SPTAN1):c.4263T>C (p.Asp1421=)
|
|
|
|
NM_001130438.3(SPTAN1):c.4266T>C (p.Ile1422=)
|
|
|
|
NM_001130438.3(SPTAN1):c.4278G>A (p.Glu1426=)
|
rs2131617669
|
|
|
NM_001130438.3(SPTAN1):c.4344+10C>T
|
|
|
|
NM_001130438.3(SPTAN1):c.4344+12C>T
|
|
|
|
NM_001130438.3(SPTAN1):c.4344+13C>T
|
|
|
|
NM_001130438.3(SPTAN1):c.4345-13T>A
|
|
|
|
NM_001130438.3(SPTAN1):c.4345-18G>T
|
|
|
|
NM_001130438.3(SPTAN1):c.4345-19T>G
|
|
|
|
NM_001130438.3(SPTAN1):c.4345-9C>A
|
|
|
|
NM_001130438.3(SPTAN1):c.4392G>A (p.Arg1464=)
|
|
|
|
NM_001130438.3(SPTAN1):c.4458A>G (p.Lys1486=)
|
rs1411742904
|
|
|
NM_001130438.3(SPTAN1):c.4479G>T (p.Ala1493=)
|
rs201716851
|
|
|
NM_001130438.3(SPTAN1):c.4482T>C (p.Ile1494=)
|
|
|
|
NM_001130438.3(SPTAN1):c.4491+12G>A
|
|
|
|
NM_001130438.3(SPTAN1):c.4491+17A>G
|
|
|
|
NM_001130438.3(SPTAN1):c.4491+18T>C
|
rs777889951
|
|
|
NM_001130438.3(SPTAN1):c.4491+8C>T
|
|
|
|
NM_001130438.3(SPTAN1):c.4491+9T>C
|
rs894723847
|
|
|
NM_001130438.3(SPTAN1):c.4492-20A>G
|
rs944908728
|
|
|
NM_001130438.3(SPTAN1):c.4497G>A (p.Glu1499=)
|
|
|
|
NM_001130438.3(SPTAN1):c.4515G>A (p.Gln1505=)
|
rs1430495860
|
|
|
NM_001130438.3(SPTAN1):c.4518C>A (p.Ala1506=)
|
rs777801455
|
|
|
NM_001130438.3(SPTAN1):c.4518C>G (p.Ala1506=)
|
rs777801455
|
|
|
NM_001130438.3(SPTAN1):c.4518C>T (p.Ala1506=)
|
|
|
|
NM_001130438.3(SPTAN1):c.4533C>G (p.Leu1511=)
|
rs375026050
|
|
|
NM_001130438.3(SPTAN1):c.4542C>T (p.Ala1514=)
|
|
|
|
NM_001130438.3(SPTAN1):c.4543G>T (p.Gly1515Cys)
|
rs149899658
|
|
|
NM_001130438.3(SPTAN1):c.4552G>A (p.Ala1518Thr)
|
rs1564282020
|
|
|
NM_001130438.3(SPTAN1):c.4569T>C (p.Ser1523=)
|
rs757364140
|
|
|
NM_001130438.3(SPTAN1):c.456G>T (p.Val152=)
|
rs1589176928
|
|
|
NM_001130438.3(SPTAN1):c.4595+18C>T
|
|
|
|
NM_001130438.3(SPTAN1):c.4595+7G>A
|
|
|
|
NM_001130438.3(SPTAN1):c.45C>T (p.Ile15=)
|
rs1589149454
|
|
|
NM_001130438.3(SPTAN1):c.4605T>C (p.Arg1535=)
|
|
|
|
NM_001130438.3(SPTAN1):c.4614C>T (p.Ala1538=)
|
rs769733032
|
|
|
NM_001130438.3(SPTAN1):c.4630A>C (p.Arg1544=)
|
rs373650761
|
|
|
NM_001130438.3(SPTAN1):c.4641A>G (p.Leu1547=)
|
|
|
|
NM_001130438.3(SPTAN1):c.4653A>G (p.Gln1551=)
|
rs2131635657
|
|
|
NM_001130438.3(SPTAN1):c.4672C>A (p.Arg1558=)
|
|
|
|
NM_001130438.3(SPTAN1):c.4674G>T (p.Arg1558=)
|
rs1554758298
|
|
|
NM_001130438.3(SPTAN1):c.4677T>C (p.Asp1559=)
|
rs2131635862
|
|
|
NM_001130438.3(SPTAN1):c.4686G>A (p.Glu1562=)
|
rs2131635933
|
|
|
NM_001130438.3(SPTAN1):c.4716A>G (p.Gln1572=)
|
rs755612920
|
|
|
NM_001130438.3(SPTAN1):c.4734G>A (p.Ser1578=)
|
rs370640807
|
|
|
NM_001130438.3(SPTAN1):c.4734G>T (p.Ser1578=)
|
|
|
|
NM_001130438.3(SPTAN1):c.4758+14A>T
|
|
|
|
NM_001130438.3(SPTAN1):c.4758+17G>A
|
|
|
|
NM_001130438.3(SPTAN1):c.4758+5G>A
|
rs1589316336
|
|
|
NM_001130438.3(SPTAN1):c.4759-12C>T
|
|
|
|
NM_001130438.3(SPTAN1):c.4767G>A (p.Lys1589=)
|
|
|
|
NM_001130438.3(SPTAN1):c.4773+20A>G
|
|
|
|
NM_001130438.3(SPTAN1):c.4774-17T>G
|
|
|
|
NM_001130438.3(SPTAN1):c.4774-8A>G
|
|
|
|
NM_001130438.3(SPTAN1):c.47A>G (p.Gln16Arg)
|
rs2132957298
|
|
|
NM_001130438.3(SPTAN1):c.4806A>C (p.Ala1602=)
|
|
|
|
NM_001130438.3(SPTAN1):c.4815T>C (p.His1605=)
|
rs2131676265
|
|
|
NM_001130438.3(SPTAN1):c.4839G>A (p.Gly1613=)
|
|
|
|
NM_001130438.3(SPTAN1):c.4845C>T (p.Ile1615=)
|
|
|
|
NM_001130438.3(SPTAN1):c.4863C>T (p.Leu1621=)
|
|
|
|
NM_001130438.3(SPTAN1):c.4884C>T (p.Ala1628=)
|
rs759241143
|
|
|
NM_001130438.3(SPTAN1):c.4905+11C>G
|
|
|
|
NM_001130438.3(SPTAN1):c.4905+19dup
|
rs763250092
|
|
|
NM_001130438.3(SPTAN1):c.4905+9C>G
|
|
|
|
NM_001130438.3(SPTAN1):c.4906-6C>G
|
|
|
|
NM_001130438.3(SPTAN1):c.4929C>T (p.Asp1643=)
|
rs1379977913
|
|
|
NM_001130438.3(SPTAN1):c.4947G>A (p.Val1649=)
|
|
|
|
NM_001130438.3(SPTAN1):c.4956A>G (p.Ser1652=)
|
|
|
|
NM_001130438.3(SPTAN1):c.4958C>T (p.Ala1653Val)
|
rs374723711
|
|
|
NM_001130438.3(SPTAN1):c.4995G>A (p.Gln1665=)
|
rs2131682537
|
|
|
NM_001130438.3(SPTAN1):c.5016C>T (p.Ile1672=)
|
|
|
|
NM_001130438.3(SPTAN1):c.501C>T (p.Asp167=)
|
rs1851117702
|
|
|
NM_001130438.3(SPTAN1):c.5035C>T (p.Leu1679=)
|
|
|
|
NM_001130438.3(SPTAN1):c.504+14A>C
|
|
|
|
NM_001130438.3(SPTAN1):c.5043+11G>A
|
|
|
|
NM_001130438.3(SPTAN1):c.5043+7C>T
|
|
|
|
NM_001130438.3(SPTAN1):c.5044-11_5044-10dup
|
|
|
|
NM_001130438.3(SPTAN1):c.5044-8A>G
|
|
|
|
NM_001130438.3(SPTAN1):c.505-15A>G
|
|
|
|
NM_001130438.3(SPTAN1):c.505-16T>C
|
|
|
|
NM_001130438.3(SPTAN1):c.505-20C>T
|
rs779640676
|
|
|
NM_001130438.3(SPTAN1):c.5058G>A (p.Leu1686=)
|
|
|
|
NM_001130438.3(SPTAN1):c.5076C>A (p.Gly1692=)
|
rs761438413
|
|
|
NM_001130438.3(SPTAN1):c.5091T>C (p.Ser1697=)
|
|
|
|
NM_001130438.3(SPTAN1):c.5119C>T (p.Leu1707=)
|
|
|
|
NM_001130438.3(SPTAN1):c.5136A>T (p.Ile1712=)
|
rs1426233215
|
|
|
NM_001130438.3(SPTAN1):c.513T>C (p.Ile171=)
|
rs777942959
|
|
|
NM_001130438.3(SPTAN1):c.5145T>C (p.His1715=)
|
rs1392565711
|
|
|
NM_001130438.3(SPTAN1):c.5148+12G>C
|
|
|
|
NM_001130438.3(SPTAN1):c.5148+14G>A
|
|
|
|
NM_001130438.3(SPTAN1):c.5148+16C>A
|
rs765477570
|
|
|
NM_001130438.3(SPTAN1):c.5148+18G>A
|
|
|
|
NM_001130438.3(SPTAN1):c.5149-14G>A
|
|
|
|
NM_001130438.3(SPTAN1):c.5149-6C>A
|
|
|
|
NM_001130438.3(SPTAN1):c.5149-8del
|
|
|
|
NM_001130438.3(SPTAN1):c.5202C>T (p.Ala1734=)
|
rs2131744231
|
|
|
NM_001130438.3(SPTAN1):c.5304C>T (p.Ser1768=)
|
rs1057524335
|
|
|
NM_001130438.3(SPTAN1):c.5310C>T (p.Arg1770=)
|
|
|
|
NM_001130438.3(SPTAN1):c.5325C>T (p.Phe1775=)
|
|
|
|
NM_001130438.3(SPTAN1):c.5337T>C (p.Asp1779=)
|
|
|
|
NM_001130438.3(SPTAN1):c.5358-12TC[2]
|
rs769628464
|
|
|
NM_001130438.3(SPTAN1):c.5358-14C>T
|
rs2131789214
|
|
|
NM_001130438.3(SPTAN1):c.5358-15C>T
|
|
|
|
NM_001130438.3(SPTAN1):c.5358-16C>G
|
rs143969764
|
|
|
NM_001130438.3(SPTAN1):c.5358-20G>A
|
rs767012741
|
|
|
NM_001130438.3(SPTAN1):c.5373G>T (p.Leu1791=)
|
|
|
|
NM_001130438.3(SPTAN1):c.5382A>C (p.Ser1794=)
|
rs1359210582
|
|
|
NM_001130438.3(SPTAN1):c.5433C>T (p.His1811=)
|
rs772382171
|
|
|
NM_001130438.3(SPTAN1):c.5463T>C (p.His1821=)
|
|
|
|
NM_001130438.3(SPTAN1):c.5478+11C>T
|
|
|
|
NM_001130438.3(SPTAN1):c.5478+20G>A
|
|
|
|
NM_001130438.3(SPTAN1):c.5479-16C>T
|
|
|
|
NM_001130438.3(SPTAN1):c.5479-5G>A
|
rs1554763238
|
|
|
NM_001130438.3(SPTAN1):c.5496C>G (p.Gly1832=)
|
rs1352540009
|
|
|
NM_001130438.3(SPTAN1):c.549T>C (p.His183=)
|
rs1589179284
|
|
|
NM_001130438.3(SPTAN1):c.5529A>G (p.Lys1843=)
|
rs776079416
|
|
|
NM_001130438.3(SPTAN1):c.5568C>T (p.His1856=)
|
rs1857396464
|
|
|
NM_001130438.3(SPTAN1):c.5592A>C (p.Ala1864=)
|
rs1857398448
|
|
|
NM_001130438.3(SPTAN1):c.5592A>G (p.Ala1864=)
|
|
|
|
NM_001130438.3(SPTAN1):c.5600+15G>T
|
rs2131800720
|
|
|
NM_001130438.3(SPTAN1):c.5601-16T>C
|
|
|
|
NM_001130438.3(SPTAN1):c.5601-20T>C
|
|
|
|
NM_001130438.3(SPTAN1):c.5608C>T (p.Arg1870Trp)
|
rs1423165476
|
|
|
NM_001130438.3(SPTAN1):c.5619G>A (p.Glu1873=)
|
|
|
|
NM_001130438.3(SPTAN1):c.5628A>G (p.Glu1876=)
|
rs1589358990
|
|
|
NM_001130438.3(SPTAN1):c.5649T>C (p.Asn1883=)
|
rs1057522205
|
|
|
NM_001130438.3(SPTAN1):c.5658G>A (p.Glu1886=)
|
|
|
|
NM_001130438.3(SPTAN1):c.5676T>C (p.Asn1892=)
|
rs2131817623
|
|
|
NM_001130438.3(SPTAN1):c.5694G>A (p.Val1898=)
|
rs867428978
|
|
|
NM_001130438.3(SPTAN1):c.5706T>C (p.Asp1902=)
|
rs2131818082
|
|
|
NM_001130438.3(SPTAN1):c.570A>G (p.Lys190=)
|
|
|
|
NM_001130438.3(SPTAN1):c.5724C>A (p.Ala1908=)
|
rs886063507
|
|
|
NM_001130438.3(SPTAN1):c.5733+18G>A
|
|
|
|
NM_001130438.3(SPTAN1):c.5734-4C>G
|
rs2131850841
|
|
|
NM_001130438.3(SPTAN1):c.5734-9C>G
|
rs779869876
|
|
|
NM_001130438.3(SPTAN1):c.5734-9C>T
|
|
|
|
NM_001130438.3(SPTAN1):c.5748A>G (p.Lys1916=)
|
|
|
|
NM_001130438.3(SPTAN1):c.5789G>A (p.Arg1930His)
|
rs771921943
|
|
|
NM_001130438.3(SPTAN1):c.5814A>G (p.Gly1938=)
|
|
|
|
NM_001130438.3(SPTAN1):c.5823C>T (p.Leu1941=)
|
|
|
|
NM_001130438.3(SPTAN1):c.5832+15T>C
|
|
|
|
NM_001130438.3(SPTAN1):c.5832+8C>T
|
|
|
|
NM_001130438.3(SPTAN1):c.5833-11C>G
|
|
|
|
NM_001130438.3(SPTAN1):c.5833-15C>G
|
|
|
|
NM_001130438.3(SPTAN1):c.5833-17C>T
|
|
|
|
NM_001130438.3(SPTAN1):c.5833-19G>T
|
|
|
|
NM_001130438.3(SPTAN1):c.5833-4C>T
|
|
|
|
NM_001130438.3(SPTAN1):c.5833-6G>A
|
|
|
|
NM_001130438.3(SPTAN1):c.5833-9A>G
|
|
|
|
NM_001130438.3(SPTAN1):c.5883G>A (p.Gly1961=)
|
rs1367701362
|
|
|
NM_001130438.3(SPTAN1):c.588A>C (p.Thr196=)
|
rs776782747
|
|
|
NM_001130438.3(SPTAN1):c.5895C>T (p.Asp1965=)
|
rs1471583021
|
|
|
NM_001130438.3(SPTAN1):c.5898G>C (p.Leu1966=)
|
|
|
|
NM_001130438.3(SPTAN1):c.5904A>G (p.Lys1968=)
|
rs778709187
|
|
|
NM_001130438.3(SPTAN1):c.591T>C (p.Asp197=)
|
rs2130976410
|
|
|
NM_001130438.3(SPTAN1):c.5928G>A (p.Lys1976=)
|
|
|
|
NM_001130438.3(SPTAN1):c.5970G>A (p.Ala1990=)
|
|
|
|
NM_001130438.3(SPTAN1):c.5993-10C>G
|
rs773841663
|
|
|
NM_001130438.3(SPTAN1):c.5993-10del
|
|
|
|
NM_001130438.3(SPTAN1):c.5993-12T>C
|
|
|
|
NM_001130438.3(SPTAN1):c.5993-5T>C
|
|
|
|
NM_001130438.3(SPTAN1):c.6030C>T (p.Gly2010=)
|
|
|
|
NM_001130438.3(SPTAN1):c.6048G>A (p.Val2016=)
|
rs557306645
|
|
|
NM_001130438.3(SPTAN1):c.6066A>G (p.Lys2022=)
|
|
|
|
NM_001130438.3(SPTAN1):c.6069+10G>A
|
|
|
|
NM_001130438.3(SPTAN1):c.6069+15C>T
|
|
|
|
NM_001130438.3(SPTAN1):c.6069+7C>T
|
rs1554766358
|
|
|
NM_001130438.3(SPTAN1):c.6070-12C>T
|
rs771489152
|
|
|
NM_001130438.3(SPTAN1):c.6070-17T>C
|
|
|
|
NM_001130438.3(SPTAN1):c.6070-6G>A
|
rs1858640761
|
|
|
NM_001130438.3(SPTAN1):c.6075T>C (p.Thr2025=)
|
|
|
|
NM_001130438.3(SPTAN1):c.6077T>C (p.Phe2026Ser)
|
rs1485892769
|
|
|
NM_001130438.3(SPTAN1):c.6084T>C (p.Ala2028=)
|
|
|
|
NM_001130438.3(SPTAN1):c.6120C>T (p.Asn2040=)
|
rs2131952739
|
|
|
NM_001130438.3(SPTAN1):c.6138T>C (p.Asp2046=)
|
|
|
|
NM_001130438.3(SPTAN1):c.615T>G (p.Val205=)
|
|
|
|
NM_001130438.3(SPTAN1):c.6177C>T (p.Ile2059=)
|
|
|
|
NM_001130438.3(SPTAN1):c.6189C>T (p.His2063=)
|
rs367629442
|
|
|
NM_001130438.3(SPTAN1):c.6192C>G (p.Ala2064=)
|
|
|
|
NM_001130438.3(SPTAN1):c.6198C>T (p.Leu2066=)
|
rs138305416
|
|
|
NM_001130438.3(SPTAN1):c.6220C>T (p.Leu2074=)
|
|
|
|
NM_001130438.3(SPTAN1):c.6225C>T (p.Ala2075=)
|
rs2131954813
|
|
|
NM_001130438.3(SPTAN1):c.6238C>T (p.Arg2080Cys)
|
rs1564315398
|
|
|
NM_001130438.3(SPTAN1):c.6258G>A (p.Glu2086=)
|
|
|
|
NM_001130438.3(SPTAN1):c.6279+12G>A
|
|
|
|
NM_001130438.3(SPTAN1):c.6279+16C>T
|
rs555451095
|
|
|
NM_001130438.3(SPTAN1):c.6279+17G>A
|
rs1233546957
|
|
|
NM_001130438.3(SPTAN1):c.6279+17G>C
|
|
|
|
NM_001130438.3(SPTAN1):c.6279+17G>T
|
|
|
|
NM_001130438.3(SPTAN1):c.627C>T (p.Asn209=)
|
|
|
|
NM_001130438.3(SPTAN1):c.6294C>T (p.Phe2098=)
|
|
|
|
NM_001130438.3(SPTAN1):c.6327C>T (p.Asn2109=)
|
rs1432749648
|
|
|
NM_001130438.3(SPTAN1):c.6345A>G (p.Ala2115=)
|
rs1858761394
|
|
|
NM_001130438.3(SPTAN1):c.6366C>T (p.Pro2122=)
|
rs775566979
|
|
|
NM_001130438.3(SPTAN1):c.6447G>A (p.Gln2149=)
|
|
|
|
NM_001130438.3(SPTAN1):c.6465G>C (p.Leu2155=)
|
|
|
|
NM_001130438.3(SPTAN1):c.6468C>G (p.Ala2156=)
|
|
|
|
NM_001130438.3(SPTAN1):c.6498C>T (p.Arg2166=)
|
rs72758823
|
|
|
NM_001130438.3(SPTAN1):c.6501A>G (p.Val2167=)
|
rs867703193
|
|
|
NM_001130438.3(SPTAN1):c.6507C>G (p.Ser2169=)
|
|
|
|
NM_001130438.3(SPTAN1):c.6507C>T (p.Ser2169=)
|
|
|
|
NM_001130438.3(SPTAN1):c.651+11A>G
|
|
|
|
NM_001130438.3(SPTAN1):c.651+16C>T
|
|
|
|
NM_001130438.3(SPTAN1):c.651+18G>A
|
rs1419393335
|
|
|
NM_001130438.3(SPTAN1):c.651+20A>G
|
|
|
|
NM_001130438.3(SPTAN1):c.6516C>T (p.Tyr2172=)
|
|
|
|
NM_001130438.3(SPTAN1):c.652-9C>A
|
|
|
|
NM_001130438.3(SPTAN1):c.6528C>A (p.Thr2176=)
|
|
|
|
NM_001130438.3(SPTAN1):c.654G>A (p.Glu218=)
|
|
|
|
NM_001130438.3(SPTAN1):c.6561A>T (p.Leu2187=)
|
rs1482545101
|
|
|
NM_001130438.3(SPTAN1):c.6576+16C>A
|
rs745494941
|
|
|
NM_001130438.3(SPTAN1):c.6576+16C>T
|
|
|
|
NM_001130438.3(SPTAN1):c.6576+18C>T
|
|
|
|
NM_001130438.3(SPTAN1):c.6576+7C>G
|
rs765667007
|
|
|
NM_001130438.3(SPTAN1):c.6577-14C>A
|
rs540922784
|
|
|
NM_001130438.3(SPTAN1):c.6577-14C>G
|
rs540922784
|
|
|
NM_001130438.3(SPTAN1):c.6577-17C>T
|
|
|
|
NM_001130438.3(SPTAN1):c.6577-6C>T
|
|
|
|
NM_001130438.3(SPTAN1):c.6577-9G>C
|
|
|
|
NM_001130438.3(SPTAN1):c.6607C>A (p.Arg2203=)
|
rs759842941
|
|
|
NM_001130438.3(SPTAN1):c.6609G>A (p.Arg2203=)
|
rs1300415391
|
|
|
NM_001130438.3(SPTAN1):c.6624C>T (p.Asn2208=)
|
|
|
|
NM_001130438.3(SPTAN1):c.6689+11G>A
|
|
|
|
NM_001130438.3(SPTAN1):c.6690-14T>C
|
rs2131994892
|
|
|
NM_001130438.3(SPTAN1):c.6690-4A>G
|
rs1465836894
|
|
|
NM_001130438.3(SPTAN1):c.6690-7T>G
|
rs868686679
|
|
|
NM_001130438.3(SPTAN1):c.6693A>C (p.Thr2231=)
|
|
|
|
NM_001130438.3(SPTAN1):c.6707+10G>T
|
|
|
|
NM_001130438.3(SPTAN1):c.6707+12T>C
|
|
|
|
NM_001130438.3(SPTAN1):c.6707+9T>C
|
rs2131995556
|
|
|
NM_001130438.3(SPTAN1):c.6708-11T>C
|
|
|
|
NM_001130438.3(SPTAN1):c.6708-13C>A
|
|
|
|
NM_001130438.3(SPTAN1):c.6708-13C>T
|
|
|
|
NM_001130438.3(SPTAN1):c.6708-19A>G
|
rs771695175
|
|
|
NM_001130438.3(SPTAN1):c.6744C>T (p.Ser2248=)
|
rs1173450745
|
|
|
NM_001130438.3(SPTAN1):c.6756T>G (p.Ala2252=)
|
|
|
|
NM_001130438.3(SPTAN1):c.6762+10C>A
|
rs367706466
|
|
|
NM_001130438.3(SPTAN1):c.6762+16G>A
|
|
|
|
NM_001130438.3(SPTAN1):c.6762+16_6762+22del
|
|
|
|
NM_001130438.3(SPTAN1):c.6762+8C>G
|
rs2132047025
|
|
|
NM_001130438.3(SPTAN1):c.6763-10A>G
|
|
|
|
NM_001130438.3(SPTAN1):c.6763-11C>A
|
rs1356782148
|
|
|
NM_001130438.3(SPTAN1):c.6763-16C>T
|
|
|
|
NM_001130438.3(SPTAN1):c.6763-4G>C
|
|
|
|
NM_001130438.3(SPTAN1):c.6763-6C>G
|
rs543227930
|
|
|
NM_001130438.3(SPTAN1):c.6777A>C (p.Glu2259Asp)
|
rs1859855635
|
|
|
NM_001130438.3(SPTAN1):c.6867G>A (p.Glu2289=)
|
|
|
|
NM_001130438.3(SPTAN1):c.6873C>T (p.Ser2291=)
|
|
|
|
NM_001130438.3(SPTAN1):c.6882C>G (p.Gly2294=)
|
|
|
|
NM_001130438.3(SPTAN1):c.6882C>T (p.Gly2294=)
|
rs1859868464
|
|
|
NM_001130438.3(SPTAN1):c.6888C>T (p.Ala2296=)
|
|
|
|
NM_001130438.3(SPTAN1):c.6903G>A (p.Gln2301=)
|
|
|
|
NM_001130438.3(SPTAN1):c.6948G>A (p.Gln2316=)
|
|
|
|
NM_001130438.3(SPTAN1):c.6959+11G>A
|
rs2132091181
|
|
|
NM_001130438.3(SPTAN1):c.6959+12G>A
|
|
|
|
NM_001130438.3(SPTAN1):c.6959+16G>A
|
|
|
|
NM_001130438.3(SPTAN1):c.6959+17T>C
|
|
|
|
NM_001130438.3(SPTAN1):c.6959+18G>C
|
|
|
|
NM_001130438.3(SPTAN1):c.6959+7G>T
|
rs373990901
|
|
|
NM_001130438.3(SPTAN1):c.6959+8G>A
|
|
|
|
NM_001130438.3(SPTAN1):c.6960-12T>G
|
|
|
|
NM_001130438.3(SPTAN1):c.6960-15C>A
|
rs1388078458
|
|
|
NM_001130438.3(SPTAN1):c.6966A>G (p.Thr2322=)
|
|
|
|
NM_001130438.3(SPTAN1):c.6972T>C (p.Gly2324=)
|
rs2132094715
|
|
|
NM_001130438.3(SPTAN1):c.6975G>A (p.Val2325=)
|
|
|
|
NM_001130438.3(SPTAN1):c.6975G>C (p.Val2325=)
|
|
|
|
NM_001130438.3(SPTAN1):c.69A>T (p.Leu23=)
|
|
|
|
NM_001130438.3(SPTAN1):c.6C>T (p.Asp2=)
|
|
|
|
NM_001130438.3(SPTAN1):c.7013+11C>A
|
rs769831605
|
|
|
NM_001130438.3(SPTAN1):c.7013+13T>C
|
|
|
|
NM_001130438.3(SPTAN1):c.7013+14T>C
|
|
|
|
NM_001130438.3(SPTAN1):c.7013+16C>A
|
|
|
|
NM_001130438.3(SPTAN1):c.7013+20C>T
|
|
|
|
NM_001130438.3(SPTAN1):c.7013+9A>G
|
|
|
|
NM_001130438.3(SPTAN1):c.7014-15G>A
|
rs201100247
|
|
|
NM_001130438.3(SPTAN1):c.7014-15G>C
|
|
|
|
NM_001130438.3(SPTAN1):c.7014-5T>G
|
|
|
|
NM_001130438.3(SPTAN1):c.7020T>C (p.Phe2340=)
|
|
|
|
NM_001130438.3(SPTAN1):c.7035T>C (p.Ser2345=)
|
rs2132099422
|
|
|
NM_001130438.3(SPTAN1):c.7044G>A (p.Leu2348=)
|
|
|
|
NM_001130438.3(SPTAN1):c.7074C>A (p.Arg2358=)
|
rs771456936
|
|
|
NM_001130438.3(SPTAN1):c.708C>G (p.Ala236=)
|
rs1004400579
|
|
|
NM_001130438.3(SPTAN1):c.7101G>A (p.Val2367=)
|
|
|
|
NM_001130438.3(SPTAN1):c.7131G>A (p.Glu2377=)
|
rs1177783409
|
|
|
NM_001130438.3(SPTAN1):c.7135A>C (p.Ile2379Leu)
|
rs770358940
|
|
|
NM_001130438.3(SPTAN1):c.7149G>A (p.Val2383=)
|
|
|
|
NM_001130438.3(SPTAN1):c.7160+10T>C
|
rs1859976612
|
|
|
NM_001130438.3(SPTAN1):c.7160+11T>C
|
|
|
|
NM_001130438.3(SPTAN1):c.7160+12A>T
|
rs2132102746
|
|
|
NM_001130438.3(SPTAN1):c.7160+5_7160+9dup
|
rs747442396
|
|
|
NM_001130438.3(SPTAN1):c.7160+9A>G
|
rs748642362
|
|
|
NM_001130438.3(SPTAN1):c.7161-18dup
|
|
|
|
NM_001130438.3(SPTAN1):c.7161-6T>G
|
|
|
|
NM_001130438.3(SPTAN1):c.7161-8G>T
|
|
|
|
NM_001130438.3(SPTAN1):c.7198A>G (p.Met2400Val)
|
rs1339856488
|
|
|
NM_001130438.3(SPTAN1):c.7221C>T (p.Asn2407=)
|
|
|
|
NM_001130438.3(SPTAN1):c.7224C>G (p.Val2408=)
|
rs771262997
|
|
|
NM_001130438.3(SPTAN1):c.7242T>C (p.Ile2414=)
|
rs2132106786
|
|
|
NM_001130438.3(SPTAN1):c.726C>T (p.Gly242=)
|
|
|
|
NM_001130438.3(SPTAN1):c.7287G>T (p.Val2429=)
|
|
|
|
NM_001130438.3(SPTAN1):c.7293G>A (p.Lys2431=)
|
|
|
|
NM_001130438.3(SPTAN1):c.7308+18T>C
|
|
|
|
NM_001130438.3(SPTAN1):c.7308+9del
|
rs1191675267
|
|
|
NM_001130438.3(SPTAN1):c.7309-14C>G
|
rs1589422584
|
|
|
NM_001130438.3(SPTAN1):c.7309-15TC[4]
|
rs770948927
|
|
|
NM_001130438.3(SPTAN1):c.7309-6C>T
|
rs1191417693
|
|
|
NM_001130438.3(SPTAN1):c.7309-8C>A
|
|
|
|
NM_001130438.3(SPTAN1):c.7314G>A (p.Leu2438=)
|
rs2132117488
|
|
|
NM_001130438.3(SPTAN1):c.7334A>G (p.Tyr2445Cys)
|
rs1364724669
|
|
|
NM_001130438.3(SPTAN1):c.733C>T (p.Leu245=)
|
|
|
|
NM_001130438.3(SPTAN1):c.7357T>C (p.Tyr2453His)
|
rs1589423064
|
|
|
NM_001130438.3(SPTAN1):c.7386C>T (p.Pro2462=)
|
|
|
|
NM_001130438.3(SPTAN1):c.7396G>C (p.Asp2466His)
|
rs367776636
|
|
|
NM_001130438.3(SPTAN1):c.7398C>T (p.Asp2466=)
|
|
|
|
NM_001130438.3(SPTAN1):c.7407G>A (p.Glu2469=)
|
|
|
|
NM_001130438.3(SPTAN1):c.7419G>T (p.Ser2473=)
|
rs375649697
|
|
|
NM_001130438.3(SPTAN1):c.741G>A (p.Arg247=)
|
|
|
|
NM_001130438.3(SPTAN1):c.783C>T (p.Asn261=)
|
rs1265434463
|
|
|
NM_001130438.3(SPTAN1):c.785+19C>A
|
|
|
|
NM_001130438.3(SPTAN1):c.785+8G>A
|
|
|
|
NM_001130438.3(SPTAN1):c.785+9C>T
|
|
|
|
NM_001130438.3(SPTAN1):c.786-11T>G
|
rs1244125212
|
|
|
NM_001130438.3(SPTAN1):c.786-4G>A
|
|
|
|
NM_001130438.3(SPTAN1):c.801T>C (p.Thr267=)
|
|
|
|
NM_001130438.3(SPTAN1):c.82C>T (p.Arg28Cys)
|
rs1850092105
|
|
|
NM_001130438.3(SPTAN1):c.837C>T (p.Ala279=)
|
rs200243332
|
|
|
NM_001130438.3(SPTAN1):c.846T>C (p.Asp282=)
|
|
|
|
NM_001130438.3(SPTAN1):c.852C>T (p.Gly284=)
|
rs1454898745
|
|
|
NM_001130438.3(SPTAN1):c.882T>C (p.Leu294=)
|
rs2131012378
|
|
|
NM_001130438.3(SPTAN1):c.885G>A (p.Arg295=)
|
|
|
|
NM_001130438.3(SPTAN1):c.89A>G (p.Lys30Arg)
|
rs1554735509
|
|
|
NM_001130438.3(SPTAN1):c.906A>G (p.Arg302=)
|
rs1554741933
|
|
|
NM_001130438.3(SPTAN1):c.930+10A>C
|
|
|
|
NM_001130438.3(SPTAN1):c.930+11C>T
|
|
|
|
NM_001130438.3(SPTAN1):c.930+20G>A
|
|
|
|
NM_001130438.3(SPTAN1):c.931-15G>A
|
|
|
|
NM_001130438.3(SPTAN1):c.939C>G (p.Ala313=)
|
|
|
|
NM_001130438.3(SPTAN1):c.939C>T (p.Ala313=)
|
rs2131014238
|
|
|
NM_001130438.3(SPTAN1):c.961C>T (p.Leu321=)
|
rs1589189237
|
|
|
NM_001130438.3(SPTAN1):c.96C>G (p.Leu32=)
|
rs1589149611
|
|
|
NM_001130438.3(SPTAN1):c.996T>C (p.Ile332=)
|
rs2131015101
|
|
|
NM_001165963.1(SCN1A):c.4853-110_4853-108delins129
|
|
|
|
NM_001165963.4(SCN1A):c.1003C>T (p.Leu335=)
|
rs2105874226
|
|
|
NM_001165963.4(SCN1A):c.1028+13T>A
|
|
|
|
NM_001165963.4(SCN1A):c.1029-15T>C
|
rs2105868517
|
|
|
NM_001165963.4(SCN1A):c.1029-4G>T
|
rs1225581069
|
|
|
NM_001165963.4(SCN1A):c.1029-7C>A
|
rs1698033637
|
|
|
NM_001165963.4(SCN1A):c.102A>G (p.Ala34=)
|
|
|
|
NM_001165963.4(SCN1A):c.1038A>G (p.Pro346=)
|
rs1374190185
|
|
|
NM_001165963.4(SCN1A):c.1044A>T (p.Gly348=)
|
|
|
|
NM_001165963.4(SCN1A):c.1047T>C (p.Tyr349=)
|
|
|
|
NM_001165963.4(SCN1A):c.1065T>A (p.Gly355=)
|
|
|
|
NM_001165963.4(SCN1A):c.109C>A (p.Pro37Thr)
|
rs1468825512
|
|
|
NM_001165963.4(SCN1A):c.1134A>G (p.Leu378=)
|
rs2105867022
|
|
|
NM_001165963.4(SCN1A):c.114A>G (p.Lys38=)
|
|
|
|
NM_001165963.4(SCN1A):c.1170+9T>C
|
rs2105866448
|
|
|
NM_001165963.4(SCN1A):c.1171-18T>A
|
|
|
|
NM_001165963.4(SCN1A):c.1171-20T>C
|
|
|
|
NM_001165963.4(SCN1A):c.1171-20T>G
|
|
|
|
NM_001165963.4(SCN1A):c.1171-4G>A
|
|
|
|
NM_001165963.4(SCN1A):c.1171-6T>C
|
|
|
|
NM_001165963.4(SCN1A):c.118G>A (p.Asp40Asn)
|
rs1574373061
|
|
|
NM_001165963.4(SCN1A):c.119A>G (p.Asp40Gly)
|
rs1684688433
|
|
|
NM_001165963.4(SCN1A):c.1230C>A (p.Gly410=)
|
rs2105862320
|
|
|
NM_001165963.4(SCN1A):c.1240C>T (p.Leu414=)
|
rs1330025518
|
|
|
NM_001165963.4(SCN1A):c.1255C>T (p.Leu419=)
|
|
|
|
NM_001165963.4(SCN1A):c.1314A>G (p.Glu438=)
|
rs2105861442
|
|
|
NM_001165963.4(SCN1A):c.1317G>A (p.Gln439=)
|
|
|
|
NM_001165963.4(SCN1A):c.1329A>G (p.Glu443=)
|
rs1553546728
|
|
|
NM_001165963.4(SCN1A):c.1344T>C (p.Ile448=)
|
|
|
|
NM_001165963.4(SCN1A):c.1350G>A (p.Gln450=)
|
rs1574233590
|
|
|
NM_001165963.4(SCN1A):c.135C>T (p.Asp45=)
|
rs201985242
|
|
|
NM_001165963.4(SCN1A):c.1377+12C>T
|
|
|
|
NM_001165963.4(SCN1A):c.1377+20T>C
|
rs1178022374
|
|
|
NM_001165963.4(SCN1A):c.1377+9G>T
|
|
|
|
NM_001165963.4(SCN1A):c.1389G>T (p.Thr463=)
|
|
|
|
NM_001165963.4(SCN1A):c.1390G>C (p.Ala464Pro)
|
|
|
|
NM_001165963.4(SCN1A):c.141T>C (p.Asn47=)
|
rs377274282
|
|
|
NM_001165963.4(SCN1A):c.1431C>G (p.Gly477=)
|
|
|
|
NM_001165963.4(SCN1A):c.1435C>A (p.Leu479Ile)
|
rs1553545770
|
|
|
NM_001165963.4(SCN1A):c.144C>A (p.Gly48=)
|
rs886043534
|
|
|
NM_001165963.4(SCN1A):c.1458C>T (p.Ala486=)
|
|
|
|
NM_001165963.4(SCN1A):c.1485G>A (p.Lys495=)
|
|
|
|
NM_001165963.4(SCN1A):c.1500G>C (p.Arg500=)
|
rs2105851628
|
|
|
NM_001165963.4(SCN1A):c.1512A>G (p.Arg504=)
|
rs1233541206
|
|
|
NM_001165963.4(SCN1A):c.1536G>A (p.Gly512=)
|
|
|
|
NM_001165963.4(SCN1A):c.153A>G (p.Pro51=)
|
|
|
|
NM_001165963.4(SCN1A):c.1545A>G (p.Lys515=)
|
|
|
|
NM_001165963.4(SCN1A):c.1548T>C (p.Asp516=)
|
rs1057524611
|
|
|
NM_001165963.4(SCN1A):c.1550A>G (p.Glu517Gly)
|
|
|
|
NM_001165963.4(SCN1A):c.1608C>T (p.Phe536=)
|
|
|
|
NM_001165963.4(SCN1A):c.1613T>C (p.Ile538Thr)
|
rs903052740
|
|
|
NM_001165963.4(SCN1A):c.1632A>G (p.Thr544=)
|
|
|
|
NM_001165963.4(SCN1A):c.1663-15C>A
|
|
|
|
NM_001165963.4(SCN1A):c.1663-18G>A
|
|
|
|
NM_001165963.4(SCN1A):c.1663-4C>G
|
|
|
|
NM_001165963.4(SCN1A):c.1668G>A (p.Leu556=)
|
rs762975379
|
|
|
NM_001165963.4(SCN1A):c.1695A>T (p.Ser565=)
|
|
|
|
NM_001165963.4(SCN1A):c.1738C>A (p.Arg580=)
|
rs794726736
|
|
|
NM_001165963.4(SCN1A):c.1755A>G (p.Gly585=)
|
|
|
|
NM_001165963.4(SCN1A):c.1764C>T (p.Asn588=)
|
rs1026954517
|
|
|
NM_001165963.4(SCN1A):c.180C>T (p.Asn60=)
|
rs746510690
|
|
|
NM_001165963.4(SCN1A):c.1815A>G (p.Arg605=)
|
|
|
|
NM_001165963.4(SCN1A):c.1821C>G (p.Ser607=)
|
rs1574217006
|
|
|
NM_001165963.4(SCN1A):c.1821C>T (p.Ser607=)
|
|
|
|
NM_001165963.4(SCN1A):c.1838G>A (p.Arg613Gln)
|
rs755323236
|
|
|
NM_001165963.4(SCN1A):c.1843G>A (p.Gly615Arg)
|
|
|
|
NM_001165963.4(SCN1A):c.1857C>T (p.Asn619=)
|
|
|
|
NM_001165963.4(SCN1A):c.1869T>C (p.Ser623=)
|
|
|
|
NM_001165963.4(SCN1A):c.1875C>A (p.Thr625=)
|
rs1423227098
|
|
|
NM_001165963.4(SCN1A):c.1908A>G (p.Pro636=)
|
|
|
|
NM_001165963.4(SCN1A):c.1959G>A (p.Leu653=)
|
|
|
|
NM_001165963.4(SCN1A):c.1975G>C (p.Val659Leu)
|
rs1559215483
|
|
|
NM_001165963.4(SCN1A):c.1985C>T (p.Ser662Leu)
|
|
|
|
NM_001165963.4(SCN1A):c.1986G>C (p.Ser662=)
|
|
|
|
NM_001165963.4(SCN1A):c.2037T>C (p.Asp679=)
|
|
|
|
NM_001165963.4(SCN1A):c.2043+7A>C
|
|
|
|
NM_001165963.4(SCN1A):c.2044-4A>T
|
rs2105835899
|
|
|
NM_001165963.4(SCN1A):c.2044-4dup
|
|
|
|
NM_001165963.4(SCN1A):c.204T>C (p.Ile68=)
|
rs2105982539
|
|
|
NM_001165963.4(SCN1A):c.2078G>A (p.Arg693Lys)
|
|
|
|
NM_001165963.4(SCN1A):c.2095G>A (p.Val699Ile)
|
rs1260934774
|
|
|
NM_001165963.4(SCN1A):c.2119C>T (p.Pro707Ser)
|
|
|
|
NM_001165963.4(SCN1A):c.2127A>G (p.Gln709=)
|
|
|
|
NM_001165963.4(SCN1A):c.2160A>G (p.Leu720=)
|
rs2105834784
|
|
|
NM_001165963.4(SCN1A):c.2166T>C (p.Asn722=)
|
rs1574208553
|
|
|
NM_001165963.4(SCN1A):c.2170G>C (p.Val724Leu)
|
rs771260698
|
|
|
NM_001165963.4(SCN1A):c.2176+9C>A
|
|
|
|
NM_001165963.4(SCN1A):c.2177-14T>C
|
rs2105830037
|
|
|
NM_001165963.4(SCN1A):c.2177-19_2177-18insTG
|
|
|
|
NM_001165963.4(SCN1A):c.2278G>A (p.Val760Ile)
|
rs1574203036
|
|
|
NM_001165963.4(SCN1A):c.2278G>C (p.Val760Leu)
|
rs1574203036
|
|
|
NM_001165963.4(SCN1A):c.2284A>C (p.Asn762His)
|
rs2105828579
|
|
|
NM_001165963.4(SCN1A):c.2314C>T (p.Leu772=)
|
|
|
|
NM_001165963.4(SCN1A):c.2322C>A (p.Ile774=)
|
rs752067973
|
|
|
NM_001165963.4(SCN1A):c.2343T>C (p.Asn781=)
|
rs1574202373
|
|
|
NM_001165963.4(SCN1A):c.2346T>C (p.Thr782=)
|
rs1441123414
|
|
|
NM_001165963.4(SCN1A):c.2349T>G (p.Leu783=)
|
rs1553543221
|
|
|
NM_001165963.4(SCN1A):c.234G>A (p.Glu78=)
|
|
|
|
NM_001165963.4(SCN1A):c.2364G>A (p.Glu788=)
|
rs1574201998
|
|
|
NM_001165963.4(SCN1A):c.2370T>C (p.Tyr790=)
|
rs1350896451
|
|
|
NM_001165963.4(SCN1A):c.2385T>C (p.His795=)
|
|
|
|
NM_001165963.4(SCN1A):c.2391T>C (p.Asn797=)
|
|
|
|
NM_001165963.4(SCN1A):c.2412C>T (p.Asn804=)
|
rs2105827258
|
|
|
NM_001165963.4(SCN1A):c.2415+19A>C
|
rs2105827090
|
|
|
NM_001165963.4(SCN1A):c.2415+20A>G
|
|
|
|
NM_001165963.4(SCN1A):c.2415+8T>C
|
rs1064797265
|
|
|
NM_001165963.4(SCN1A):c.2415+9A>G
|
rs2105827142
|
|
|
NM_001165963.4(SCN1A):c.2416-17T>C
|
|
|
|
NM_001165963.4(SCN1A):c.2416-4T>G
|
rs398123587
|
|
|
NM_001165963.4(SCN1A):c.2418T>A (p.Val806=)
|
|
|
|
NM_001165963.4(SCN1A):c.2427G>A (p.Gly809=)
|
|
|
|
NM_001165963.4(SCN1A):c.2433T>C (p.Phe811=)
|
|
|
|
NM_001165963.4(SCN1A):c.2449C>T (p.Leu817=)
|
|
|
|
NM_001165963.4(SCN1A):c.2475C>T (p.Tyr825=)
|
rs1696880667
|
|
|
NM_001165963.4(SCN1A):c.2499T>C (p.Asn833=)
|
rs1574192902
|
|
|
NM_001165963.4(SCN1A):c.2511T>C (p.Gly837=)
|
|
|
|
NM_001165963.4(SCN1A):c.2589+17A>C
|
rs1696857207
|
|
|
NM_001165963.4(SCN1A):c.2589+17_2589+18insAAC
|
rs2105816129
|
|
|
NM_001165963.4(SCN1A):c.2589+18_2589+20del
|
rs766413788
|
|
|
NM_001165963.4(SCN1A):c.2589+9A>G
|
|
|
|
NM_001165963.4(SCN1A):c.2590-24_2590-19del
|
rs1406361677
|
|
|
NM_001165963.4(SCN1A):c.2607G>A (p.Leu869=)
|
|
|
|
NM_001165963.4(SCN1A):c.2637A>G (p.Leu879=)
|
|
|
|
NM_001165963.4(SCN1A):c.264+12T>C
|
|
|
|
NM_001165963.4(SCN1A):c.265-20G>T
|
|
|
|
NM_001165963.4(SCN1A):c.265-6_265-5insTG
|
rs2105918730
|
|
|
NM_001165963.4(SCN1A):c.265-7C>T
|
rs761608983
|
|
|
NM_001165963.4(SCN1A):c.265-9G>A
|
|
|
|
NM_001165963.4(SCN1A):c.2661G>C (p.Val887=)
|
|
|
|
NM_001165963.4(SCN1A):c.2667T>G (p.Ala889=)
|
|
|
|
NM_001165963.4(SCN1A):c.2670G>A (p.Leu890=)
|
|
|
|
NM_001165963.4(SCN1A):c.2670G>C (p.Leu890=)
|
rs760568616
|
|
|
NM_001165963.4(SCN1A):c.267T>A (p.Thr89=)
|
|
|
|
NM_001165963.4(SCN1A):c.2703C>A (p.Val901=)
|
|
|
|
NM_001165963.4(SCN1A):c.2733C>A (p.Leu911=)
|
rs2105807567
|
|
|
NM_001165963.4(SCN1A):c.2754T>C (p.Asp918=)
|
rs2105807413
|
|
|
NM_001165963.4(SCN1A):c.2757T>C (p.Cys919=)
|
rs1553541344
|
|
|
NM_001165963.4(SCN1A):c.2835C>T (p.Phe945=)
|
rs1696628056
|
|
|
NM_001165963.4(SCN1A):c.2883G>A (p.Glu961=)
|
|
|
|
NM_001165963.4(SCN1A):c.2947-12del
|
|
|
|
NM_001165963.4(SCN1A):c.2947-20A>C
|
rs374476805
|
|
|
NM_001165963.4(SCN1A):c.294C>A (p.Ala98=)
|
|
|
|
NM_001165963.4(SCN1A):c.2964G>A (p.Leu988=)
|
|
|
|
NM_001165963.4(SCN1A):c.2970G>A (p.Leu990=)
|
rs897883046
|
|
|
NM_001165963.4(SCN1A):c.2976G>A (p.Leu992=)
|
|
|
|
NM_001165963.4(SCN1A):c.2976G>T (p.Leu992=)
|
rs1251469901
|
|
|
NM_001165963.4(SCN1A):c.297C>T (p.Ile99=)
|
|
|
|
NM_001165963.4(SCN1A):c.3018T>C (p.Asp1006=)
|
rs375909896
|
|
|
NM_001165963.4(SCN1A):c.303G>A (p.Arg101=)
|
|
|
|
NM_001165963.4(SCN1A):c.3046G>A (p.Val1016Met)
|
rs370857858
|
|
|
NM_001165963.4(SCN1A):c.3051T>C (p.Asp1017=)
|
|
|
|
NM_001165963.4(SCN1A):c.3066A>G (p.Gly1022=)
|
rs1696380602
|
|
|
NM_001165963.4(SCN1A):c.3111C>A (p.Ser1037=)
|
rs1204620691
|
|
|
NM_001165963.4(SCN1A):c.312C>A (p.Ala104=)
|
rs771566556
|
|
|
NM_001165963.4(SCN1A):c.312C>T (p.Ala104=)
|
|
|
|
NM_001165963.4(SCN1A):c.3144T>C (p.Ile1048=)
|
|
|
|
NM_001165963.4(SCN1A):c.3150A>G (p.Pro1050=)
|
|
|
|
NM_001165963.4(SCN1A):c.3165C>A (p.Asn1055Lys)
|
rs797045939
|
|
|
NM_001165963.4(SCN1A):c.318T>C (p.Ser106=)
|
|
|
|
NM_001165963.4(SCN1A):c.3201A>C (p.Ala1067=)
|
rs1376202812
|
|
|
NM_001165963.4(SCN1A):c.3201A>G (p.Ala1067=)
|
|
|
|
NM_001165963.4(SCN1A):c.3215A>G (p.Asp1072Gly)
|
rs1553540263
|
|
|
NM_001165963.4(SCN1A):c.3264T>C (p.Thr1088=)
|
rs1696342389
|
|
|
NM_001165963.4(SCN1A):c.3324C>T (p.Asn1108=)
|
rs2105794049
|
|
|
NM_001165963.4(SCN1A):c.3342T>C (p.Thr1114=)
|
|
|
|
NM_001165963.4(SCN1A):c.3342T>G (p.Thr1114=)
|
rs904226939
|
|
|
NM_001165963.4(SCN1A):c.3345A>T (p.Val1115=)
|
rs759998380
|
|
|
NM_001165963.4(SCN1A):c.3372T>G (p.Phe1124Leu)
|
rs1424688990
|
|
|
NM_001165963.4(SCN1A):c.3396T>C (p.Phe1132=)
|
|
|
|
NM_001165963.4(SCN1A):c.3405A>G (p.Glu1135=)
|
rs796052954
|
|
|
NM_001165963.4(SCN1A):c.3423C>T (p.Ser1141=)
|
rs1696301764
|
|
|
NM_001165963.4(SCN1A):c.3429+14G>C
|
rs1462589860
|
|
|
NM_001165963.4(SCN1A):c.3429+20G>A
|
|
|
|
NM_001165963.4(SCN1A):c.3430-13A>C
|
|
|
|
NM_001165963.4(SCN1A):c.3430-18T>C
|
|
|
|
NM_001165963.4(SCN1A):c.3430-6T>C
|
|
|
|
NM_001165963.4(SCN1A):c.3430-7C>A
|
rs975085305
|
|
|
NM_001165963.4(SCN1A):c.3449G>A (p.Ser1150Asn)
|
|
|
|
NM_001165963.4(SCN1A):c.3462T>C (p.Gly1154=)
|
rs2105630006
|
|
|
NM_001165963.4(SCN1A):c.3480C>A (p.Gly1160=)
|
rs369594817
|
|
|
NM_001165963.4(SCN1A):c.3480C>T (p.Gly1160=)
|
rs369594817
|
|
|
NM_001165963.4(SCN1A):c.3483A>C (p.Ala1161=)
|
|
|
|
NM_001165963.4(SCN1A):c.3504A>G (p.Val1168=)
|
|
|
|
NM_001165963.4(SCN1A):c.3506T>G (p.Val1169Gly)
|
rs1380673643
|
|
|
NM_001165963.4(SCN1A):c.354G>A (p.Arg118=)
|
rs121917959
|
|
|
NM_001165963.4(SCN1A):c.3550+18A>C
|
rs866995453
|
|
|
NM_001165963.4(SCN1A):c.3550+18A>G
|
|
|
|
NM_001165963.4(SCN1A):c.3550+20T>C
|
rs1693162810
|
|
|
NM_001165963.4(SCN1A):c.3550+8A>C
|
|
|
|
NM_001165963.4(SCN1A):c.3551-12C>T
|
rs1692905818
|
|
|
NM_001165963.4(SCN1A):c.3551-18T>C
|
|
|
|
NM_001165963.4(SCN1A):c.3552C>T (p.Gly1184=)
|
rs1574061760
|
|
|
NM_001165963.4(SCN1A):c.3582C>T (p.Ile1194=)
|
rs2105611470
|
|
|
NM_001165963.4(SCN1A):c.3609A>G (p.Gln1203=)
|
rs2105611013
|
|
|
NM_001165963.4(SCN1A):c.3618C>T (p.Asn1206=)
|
|
|
|
NM_001165963.4(SCN1A):c.3621G>T (p.Leu1207=)
|
|
|
|
NM_001165963.4(SCN1A):c.3669C>T (p.Phe1223=)
|
rs1574060392
|
|
|
NM_001165963.4(SCN1A):c.3684T>A (p.Ile1228=)
|
|
|
|
NM_001165963.4(SCN1A):c.3705+18A>G
|
|
|
|
NM_001165963.4(SCN1A):c.3706-14C>T
|
rs1692589493
|
|
|
NM_001165963.4(SCN1A):c.3706-18G>A
|
|
|
|
NM_001165963.4(SCN1A):c.3706-3T>C
|
rs1281873956
|
|
|
NM_001165963.4(SCN1A):c.3724A>G (p.Ile1242Val)
|
rs2105593894
|
|
|
NM_001165963.4(SCN1A):c.3750G>T (p.Thr1250=)
|
rs771494149
|
|
|
NM_001165963.4(SCN1A):c.3762T>C (p.Tyr1254=)
|
|
|
|
NM_001165963.4(SCN1A):c.3768C>T (p.Asp1256=)
|
rs2105593083
|
|
|
NM_001165963.4(SCN1A):c.3774T>G (p.Val1258=)
|
|
|
|
NM_001165963.4(SCN1A):c.3783C>T (p.Tyr1261=)
|
|
|
|
NM_001165963.4(SCN1A):c.3793C>T (p.Leu1265=)
|
|
|
|
NM_001165963.4(SCN1A):c.3822T>C (p.Tyr1274=)
|
|
|
|
NM_001165963.4(SCN1A):c.383+13A>T
|
rs2105917631
|
|
|
NM_001165963.4(SCN1A):c.383+7T>C
|
rs1553553397
|
|
|
NM_001165963.4(SCN1A):c.3834A>G (p.Thr1278=)
|
rs757206525
|
|
|
NM_001165963.4(SCN1A):c.384-10_384-5del
|
rs1574291168
|
|
|
NM_001165963.4(SCN1A):c.384-16C>T
|
|
|
|
NM_001165963.4(SCN1A):c.384-5C>A
|
|
|
|
NM_001165963.4(SCN1A):c.384-5C>T
|
rs781505393
|
|
|
NM_001165963.4(SCN1A):c.384-8T>A
|
rs2105910106
|
|
|
NM_001165963.4(SCN1A):c.3846T>C (p.Asn1282=)
|
|
|
|
NM_001165963.4(SCN1A):c.3879+12T>A
|
|
|
|
NM_001165963.4(SCN1A):c.3879+19T>C
|
|
|
|
NM_001165963.4(SCN1A):c.3880-10G>C
|
rs886055043
|
|
|
NM_001165963.4(SCN1A):c.3880-15T>C
|
|
|
|
NM_001165963.4(SCN1A):c.3885A>T (p.Ser1295=)
|
|
|
|
NM_001165963.4(SCN1A):c.3886T>A (p.Leu1296Met)
|
rs375896308
|
|
|
NM_001165963.4(SCN1A):c.3951A>G (p.Thr1317=)
|
|
|
|
NM_001165963.4(SCN1A):c.3954A>G (p.Leu1318=)
|
rs2105570166
|
|
|
NM_001165963.4(SCN1A):c.3961C>T (p.Leu1321=)
|
rs2105570052
|
|
|
NM_001165963.4(SCN1A):c.396G>T (p.Met132Ile)
|
rs1699153534
|
|
|
NM_001165963.4(SCN1A):c.397C>G (p.Leu133Val)
|
rs1553552411
|
|
|
NM_001165963.4(SCN1A):c.3996G>A (p.Gly1332=)
|
|
|
|
NM_001165963.4(SCN1A):c.4002+14A>C
|
|
|
|
NM_001165963.4(SCN1A):c.4002+1960A>G
|
|
|
|
NM_001165963.4(SCN1A):c.4002+1965C>T
|
rs2105551111
|
|
|
NM_001165963.4(SCN1A):c.4002+1979G>A
|
|
|
|
NM_001165963.4(SCN1A):c.4002+1983T>C
|
|
|
|
NM_001165963.4(SCN1A):c.4002+1985del
|
rs2105550969
|
|
|
NM_001165963.4(SCN1A):c.4002+1992T>C
|
|
|
|
NM_001165963.4(SCN1A):c.4002+1997C>T
|
|
|
|
NM_001165963.4(SCN1A):c.4002+19C>T
|
rs1692150049
|
|
|
NM_001165963.4(SCN1A):c.4002+2005G>A
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2008C>T
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2022T>C
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2025T>G
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2033G>C
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2042A>G
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2044A>G
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2051G>C
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2057_4002+2059del
|
rs1192335240
|
|
|
NM_001165963.4(SCN1A):c.4002+2062A>G
|
rs1691837819
|
|
|
NM_001165963.4(SCN1A):c.4002+2063G>T
|
rs2105550345
|
|
|
NM_001165963.4(SCN1A):c.4002+2070A>G
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2073A>C
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2076_4002+2079del
|
rs1259590393
|
|
|
NM_001165963.4(SCN1A):c.4002+2085_4002+2087del
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2089G>A
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2089G>T
|
rs539034474
|
|
|
NM_001165963.4(SCN1A):c.4002+2095C>T
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2097T>C
|
rs2105550019
|
|
|
NM_001165963.4(SCN1A):c.4002+2098T>C
|
rs182825244
|
|
|
NM_001165963.4(SCN1A):c.4002+2098T>G
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2098del
|
rs768145184
|
|
|
NM_001165963.4(SCN1A):c.4002+2099G>T
|
|
|
|
NM_001165963.4(SCN1A):c.4002+20C>T
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2107C>T
|
rs2105549912
|
|
|
NM_001165963.4(SCN1A):c.4002+2109T>C
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2118C>T
|
rs2105549796
|
|
|
NM_001165963.4(SCN1A):c.4002+2119A>G
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2128G>T
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2130T>C
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2144C>T
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2147T>G
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2151T>C
|
rs2105549480
|
|
|
NM_001165963.4(SCN1A):c.4002+2155T>C
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2161A>G
|
rs886825546
|
|
|
NM_001165963.4(SCN1A):c.4002+2171C>A
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2182A>G
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2184T>C
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2184T>G
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2203G>A
|
rs1375615632
|
|
|
NM_001165963.4(SCN1A):c.4002+2206T>A
|
rs927311502
|
|
|
NM_001165963.4(SCN1A):c.4002+2206T>C
|
rs927311502
|
|
|
NM_001165963.4(SCN1A):c.4002+2213_4002+2215del
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2242T>C
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2253G>A
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2260T>C
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2261A>G
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2264T>C
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2267C>T
|
rs1009086858
|
|
|
NM_001165963.4(SCN1A):c.4002+2272C>G
|
rs2105548669
|
|
|
NM_001165963.4(SCN1A):c.4002+2273T>C
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2276G>C
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2281_4002+2287del
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2289C>A
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2298T>C
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2304G>T
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2305_4002+2312dup
|
rs2105548367
|
|
|
NM_001165963.4(SCN1A):c.4002+2310_4002+2311dup
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2320G>A
|
rs577323922
|
|
|
NM_001165963.4(SCN1A):c.4002+2342C>T
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2347T>C
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2347T>G
|
rs1476753090
|
|
|
NM_001165963.4(SCN1A):c.4002+2349A>T
|
rs2105547965
|
|
|
NM_001165963.4(SCN1A):c.4002+2352A>C
|
rs2105547919
|
|
|
NM_001165963.4(SCN1A):c.4002+2358T>C
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2361C>T
|
rs2105547851
|
|
|
NM_001165963.4(SCN1A):c.4002+2364C>T
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2369G>A
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2388CTAA[3]
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2393T>C
|
rs2105547616
|
|
|
NM_001165963.4(SCN1A):c.4002+2395_4002+2398dup
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2401A>G
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2404T>C
|
rs754877109
|
|
|
NM_001165963.4(SCN1A):c.4002+2407A>C
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2410T>C
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2420G>A
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2421T>C
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2430_4002+2432dup
|
rs2105547380
|
|
|
NM_001165963.4(SCN1A):c.4002+2439C>A
|
rs2105547332
|
|
|
NM_001165963.4(SCN1A):c.4002+2450G>A
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2458C>T
|
rs2105547203
|
|
|
NM_001165963.4(SCN1A):c.4002+2459G>A
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2467C>T
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2499T>C
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2499T>G
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2501C>T
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2509G>A
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2510del
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2519A>G
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2532G>A
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2537A>T
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2538T>C
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2544G>C
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2545T>C
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2548G>T
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2557G>T
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2563G>A
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2565G>A
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2569G>T
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2576T>C
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2577T>A
|
rs1691773795
|
|
|
NM_001165963.4(SCN1A):c.4002+2579T>A
|
rs947601907
|
|
|
NM_001165963.4(SCN1A):c.4002+2579T>C
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2588A>C
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2589G>A
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2590T>C
|
rs1574027484
|
|
|
NM_001165963.4(SCN1A):c.4002+2592G>A
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2600A>C
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2600A>G
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2614C>T
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2623T>C
|
rs2105545931
|
|
|
NM_001165963.4(SCN1A):c.4002+2624C>G
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2627_4002+2628del
|
rs1462666494
|
|
|
NM_001165963.4(SCN1A):c.4002+2634G>A
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2635T>C
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2636C>T
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2649T>G
|
|
|
|
NM_001165963.4(SCN1A):c.4002+2649del
|
|
|
|
NM_001165963.4(SCN1A):c.4003-6T>G
|
|
|
|
NM_001165963.4(SCN1A):c.4003-7G>A
|
rs1334990688
|
|
|
NM_001165963.4(SCN1A):c.4005G>A (p.Val1335=)
|
|
|
|
NM_001165963.4(SCN1A):c.4017C>T (p.Ala1339=)
|
rs2105510596
|
|
|
NM_001165963.4(SCN1A):c.4020T>C (p.Leu1340=)
|
rs1691091194
|
|
|
NM_001165963.4(SCN1A):c.4035A>G (p.Pro1345=)
|
|
|
|
NM_001165963.4(SCN1A):c.4050G>A (p.Val1350=)
|
rs2105510228
|
|
|
NM_001165963.4(SCN1A):c.4095C>G (p.Gly1365=)
|
rs372749240
|
|
|
NM_001165963.4(SCN1A):c.4104G>A (p.Leu1368=)
|
|
|
|
NM_001165963.4(SCN1A):c.4119C>T (p.Phe1373=)
|
rs2105509444
|
|
|
NM_001165963.4(SCN1A):c.4134C>T (p.Asn1378=)
|
|
|
|
NM_001165963.4(SCN1A):c.4146T>C (p.Gly1382=)
|
rs1574005667
|
|
|
NM_001165963.4(SCN1A):c.4158C>T (p.Asp1386=)
|
|
|
|
NM_001165963.4(SCN1A):c.4159A>G (p.Ile1387Val)
|
rs764507532
|
|
|
NM_001165963.4(SCN1A):c.4170G>C (p.Val1390=)
|
rs1474333400
|
|
|
NM_001165963.4(SCN1A):c.4218T>A (p.Ala1406=)
|
|
|
|
NM_001165963.4(SCN1A):c.4257A>T (p.Gly1419=)
|
rs2105507859
|
|
|
NM_001165963.4(SCN1A):c.4263G>C (p.Gly1421=)
|
|
|
|
NM_001165963.4(SCN1A):c.4284+7G>T
|
|
|
|
NM_001165963.4(SCN1A):c.4285-12C>T
|
|
|
|
NM_001165963.4(SCN1A):c.4335A>G (p.Arg1445=)
|
rs2105486418
|
|
|
NM_001165963.4(SCN1A):c.4338+17T>A
|
|
|
|
NM_001165963.4(SCN1A):c.4338+19C>T
|
rs2105486220
|
|
|
NM_001165963.4(SCN1A):c.4359T>C (p.Tyr1453=)
|
rs1573984787
|
|
|
NM_001165963.4(SCN1A):c.4392T>C (p.Val1464=)
|
|
|
|
NM_001165963.4(SCN1A):c.4401C>T (p.Ile1467=)
|
rs1690335252
|
|
|
NM_001165963.4(SCN1A):c.4446C>T (p.Ile1482=)
|
rs398123596
|
|
|
NM_001165963.4(SCN1A):c.4476+14del
|
|
|
|
NM_001165963.4(SCN1A):c.4476+16A>G
|
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|
|
NM_001165963.4(SCN1A):c.4477-11C>T
|
rs775315152
|
|
|
NM_001165963.4(SCN1A):c.4477-20T>C
|
rs2105463114
|
|
|
NM_001165963.4(SCN1A):c.4477-4A>G
|
rs2105462878
|
|
|
NM_001165963.4(SCN1A):c.4477-7T>G
|
rs2105462945
|
|
|
NM_001165963.4(SCN1A):c.447C>T (p.Asn149=)
|
rs1484003948
|
|
|
NM_001165963.4(SCN1A):c.4482A>G (p.Gly1494=)
|
rs2105462751
|
|
|
NM_001165963.4(SCN1A):c.4503A>C (p.Thr1501=)
|
rs1326158259
|
|
|
NM_001165963.4(SCN1A):c.4521C>T (p.Tyr1507=)
|
rs750997506
|
|
|
NM_001165963.4(SCN1A):c.4539A>G (p.Lys1513=)
|
rs2105462034
|
|
|
NM_001165963.4(SCN1A):c.4540T>C (p.Leu1514=)
|
|
|
|
NM_001165963.4(SCN1A):c.456T>C (p.Asp152=)
|
rs2105909589
|
|
|
NM_001165963.4(SCN1A):c.4573C>A (p.Arg1525=)
|
rs794726752
|
|
|
NM_001165963.4(SCN1A):c.4578A>G (p.Pro1526=)
|
|
|
|
NM_001165963.4(SCN1A):c.4581+11T>C
|
|
|
|
NM_001165963.4(SCN1A):c.4581+7A>G
|
rs1689984075
|
|
|
NM_001165963.4(SCN1A):c.4582-14C>A
|
|
|
|
NM_001165963.4(SCN1A):c.4582-9del
|
rs1689727784
|
|
|
NM_001165963.4(SCN1A):c.4584C>T (p.Asn1528=)
|
|
|
|
NM_001165963.4(SCN1A):c.4599G>T (p.Met1533Ile)
|
rs2105449769
|
|
|
NM_001165963.4(SCN1A):c.4611C>T (p.Phe1537=)
|
|
|
|
NM_001165963.4(SCN1A):c.4629T>C (p.Phe1543=)
|
rs1329723137
|
|
|
NM_001165963.4(SCN1A):c.4632C>T (p.Asp1544=)
|
rs1057521371
|
|
|
NM_001165963.4(SCN1A):c.4650C>T (p.Leu1550=)
|
rs2105449280
|
|
|
NM_001165963.4(SCN1A):c.4680G>A (p.Val1560=)
|
rs1014933161
|
|
|
NM_001165963.4(SCN1A):c.473+11C>T
|
rs764054718
|
|
|
NM_001165963.4(SCN1A):c.473+17T>C
|
|
|
|
NM_001165963.4(SCN1A):c.474-10T>C
|
|
|
|
NM_001165963.4(SCN1A):c.474-15G>T
|
rs2105902861
|
|
|
NM_001165963.4(SCN1A):c.474-16G>C
|
|
|
|
NM_001165963.4(SCN1A):c.4749A>T (p.Leu1583=)
|
rs2105448280
|
|
|
NM_001165963.4(SCN1A):c.4767A>C (p.Val1589=)
|
|
|
|
NM_001165963.4(SCN1A):c.4788C>A (p.Arg1596=)
|
rs762836573
|
|
|
NM_001165963.4(SCN1A):c.4803C>A (p.Thr1601=)
|
|
|
|
NM_001165963.4(SCN1A):c.4852+11T>G
|
rs746573662
|
|
|
NM_001165963.4(SCN1A):c.4852+17G>T
|
|
|
|
NM_001165963.4(SCN1A):c.4853-12G>A
|
rs2105435765
|
|
|
NM_001165963.4(SCN1A):c.4853-13T>C
|
|
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|
NM_001165963.4(SCN1A):c.4853-13del
|
rs1689384635
|
|
|
NM_001165963.4(SCN1A):c.4853-16C>T
|
|
|
|
NM_001165963.4(SCN1A):c.4863T>A (p.Leu1621=)
|
rs2105435563
|
|
|
NM_001165963.4(SCN1A):c.4920T>C (p.Leu1640=)
|
rs1573952959
|
|
|
NM_001165963.4(SCN1A):c.4938C>T (p.Ile1646=)
|
|
|
|
NM_001165963.4(SCN1A):c.4953A>G (p.Lys1651=)
|
|
|
|
NM_001165963.4(SCN1A):c.4965G>A (p.Gly1655=)
|
|
|
|
NM_001165963.4(SCN1A):c.5008T>C (p.Leu1670=)
|
|
|
|
NM_001165963.4(SCN1A):c.5010G>A (p.Leu1670=)
|
|
|
|
NM_001165963.4(SCN1A):c.5019C>A (p.Ile1673=)
|
rs757002972
|
|
|
NM_001165963.4(SCN1A):c.5019C>T (p.Ile1673=)
|
rs757002972
|
|
|
NM_001165963.4(SCN1A):c.5022C>T (p.Gly1674=)
|
rs1689327411
|
|
|
NM_001165963.4(SCN1A):c.5064G>A (p.Gly1688=)
|
|
|
|
NM_001165963.4(SCN1A):c.5073C>T (p.Asn1691=)
|
|
|
|
NM_001165963.4(SCN1A):c.5085T>G (p.Val1695=)
|
rs2105432702
|
|
|
NM_001165963.4(SCN1A):c.5100G>A (p.Gly1700=)
|
rs1689304358
|
|
|
NM_001165963.4(SCN1A):c.5103C>T (p.Ile1701=)
|
|
|
|
NM_001165963.4(SCN1A):c.5124G>A (p.Glu1708=)
|
|
|
|
NM_001165963.4(SCN1A):c.5127C>A (p.Thr1709=)
|
rs777044331
|
|
|
NM_001165963.4(SCN1A):c.5196C>T (p.Pro1732=)
|
|
|
|
NM_001165963.4(SCN1A):c.5205C>T (p.Asn1735=)
|
rs2105431102
|
|
|
NM_001165963.4(SCN1A):c.522T>C (p.Ile174=)
|
|
|
|
NM_001165963.4(SCN1A):c.5238T>C (p.Val1746=)
|
rs2105430607
|
|
|
NM_001165963.4(SCN1A):c.5250C>T (p.Ser1750=)
|
rs1689264252
|
|
|
NM_001165963.4(SCN1A):c.5283T>G (p.Val1761=)
|
rs1573948237
|
|
|
NM_001165963.4(SCN1A):c.5289T>A (p.Ile1763=)
|
|
|
|
NM_001165963.4(SCN1A):c.5304T>C (p.Ser1768=)
|
|
|
|
NM_001165963.4(SCN1A):c.5313C>T (p.Ile1771=)
|
|
|
|
NM_001165963.4(SCN1A):c.531A>T (p.Gly177=)
|
|
|
|
NM_001165963.4(SCN1A):c.5352C>T (p.Val1784=)
|
|
|
|
NM_001165963.4(SCN1A):c.5361G>A (p.Glu1787=)
|
rs796053038
|
|
|
NM_001165963.4(SCN1A):c.5379T>C (p.Thr1793=)
|
rs1553520152
|
|
|
NM_001165963.4(SCN1A):c.5427T>C (p.Tyr1809=)
|
|
|
|
NM_001165963.4(SCN1A):c.5442G>A (p.Lys1814=)
|
rs144595013
|
|
|
NM_001165963.4(SCN1A):c.5457A>T (p.Ala1819=)
|
|
|
|
NM_001165963.4(SCN1A):c.546T>C (p.Asp182=)
|
|
|
|
NM_001165963.4(SCN1A):c.5490G>A (p.Gln1830=)
|
|
|
|
NM_001165963.4(SCN1A):c.5560T>C (p.Leu1854=)
|
rs1452952636
|
|
|
NM_001165963.4(SCN1A):c.5581C>A (p.Arg1861=)
|
|
|
|
NM_001165963.4(SCN1A):c.5598T>C (p.Asp1866=)
|
rs2105425631
|
|
|
NM_001165963.4(SCN1A):c.5610T>A (p.Ala1870=)
|
rs1403005079
|
|
|
NM_001165963.4(SCN1A):c.5610T>G (p.Ala1870=)
|
|
|
|
NM_001165963.4(SCN1A):c.5634G>A (p.Glu1878=)
|
rs748090629
|
|
|
NM_001165963.4(SCN1A):c.5634G>T (p.Glu1878Asp)
|
rs748090629
|
|
|
NM_001165963.4(SCN1A):c.5643G>A (p.Glu1881=)
|
|
|
|
NM_001165963.4(SCN1A):c.5664G>A (p.Gln1888=)
|
|
|
|
NM_001165963.4(SCN1A):c.5688C>T (p.Ser1896=)
|
|
|
|
NM_001165963.4(SCN1A):c.5701G>A (p.Val1901Ile)
|
rs1689155302
|
|
|
NM_001165963.4(SCN1A):c.5702T>G (p.Val1901Gly)
|
rs1559100042
|
|
|
NM_001165963.4(SCN1A):c.5751A>G (p.Val1917=)
|
rs1173785519
|
|
|
NM_001165963.4(SCN1A):c.5777A>G (p.Tyr1926Cys)
|
rs376669368
|
|
|
NM_001165963.4(SCN1A):c.5781A>G (p.Arg1927=)
|
rs2105423230
|
|
|
NM_001165963.4(SCN1A):c.5797C>A (p.Arg1933=)
|
rs1351809843
|
|
|
NM_001165963.4(SCN1A):c.5798G>A (p.Arg1933Gln)
|
rs556893466
|
|
|
NM_001165963.4(SCN1A):c.5820T>C (p.Phe1940=)
|
rs2105422699
|
|
|
NM_001165963.4(SCN1A):c.5841C>A (p.Ile1947=)
|
|
|
|
NM_001165963.4(SCN1A):c.5907T>C (p.Ile1969=)
|
|
|
|
NM_001165963.4(SCN1A):c.5913A>G (p.Glu1971=)
|
|
|
|
NM_001165963.4(SCN1A):c.5979T>C (p.Ile1993=)
|
|
|
|
NM_001165963.4(SCN1A):c.5990A>G (p.His1997Arg)
|
rs1573939967
|
|
|
NM_001165963.4(SCN1A):c.5994G>A (p.Glu1998=)
|
|
|
|
NM_001165963.4(SCN1A):c.6003C>T (p.Gly2001=)
|
|
|
|
NM_001165963.4(SCN1A):c.6015A>G (p.Lys2005=)
|
|
|
|
NM_001165963.4(SCN1A):c.603-12T>G
|
|
|
|
NM_001165963.4(SCN1A):c.603-12_603-11insTA
|
|
|
|
NM_001165963.4(SCN1A):c.603-23TG[3]
|
rs2105895518
|
|
|
NM_001165963.4(SCN1A):c.612A>G (p.Thr204=)
|
rs2105895390
|
|
|
NM_001165963.4(SCN1A):c.642A>G (p.Ala214=)
|
|
|
|
NM_001165963.4(SCN1A):c.648A>G (p.Arg216=)
|
rs2105895159
|
|
|
NM_001165963.4(SCN1A):c.66T>C (p.Leu22=)
|
rs2105983989
|
|
|
NM_001165963.4(SCN1A):c.675G>A (p.Lys225=)
|
rs794726719
|
|
|
NM_001165963.4(SCN1A):c.694+17A>G
|
|
|
|
NM_001165963.4(SCN1A):c.694+18T>C
|
rs2105894631
|
|
|
NM_001165963.4(SCN1A):c.694+7G>A
|
|
|
|
NM_001165963.4(SCN1A):c.696C>T (p.Gly232=)
|
|
|
|
NM_001165963.4(SCN1A):c.717C>A (p.Ala239=)
|
rs759923734
|
|
|
NM_001165963.4(SCN1A):c.747T>C (p.Asp249=)
|
|
|
|
NM_001165963.4(SCN1A):c.750A>G (p.Val250=)
|
|
|
|
NM_001165963.4(SCN1A):c.762T>C (p.Thr254=)
|
rs1158359748
|
|
|
NM_001165963.4(SCN1A):c.768C>T (p.Phe256=)
|
|
|
|
NM_001165963.4(SCN1A):c.774G>A (p.Leu258=)
|
|
|
|
NM_001165963.4(SCN1A):c.780A>G (p.Val260=)
|
|
|
|
NM_001165963.4(SCN1A):c.802C>T (p.Leu268=)
|
rs2105889931
|
|
|
NM_001165963.4(SCN1A):c.816C>T (p.Asn272=)
|
rs1553549713
|
|
|
NM_001165963.4(SCN1A):c.831T>C (p.Cys277=)
|
rs1553549683
|
|
|
NM_001165963.4(SCN1A):c.852T>C (p.Asn284=)
|
rs748747434
|
|
|
NM_001165963.4(SCN1A):c.861G>A (p.Leu287=)
|
rs568461410
|
|
|
NM_001165963.4(SCN1A):c.895A>G (p.Asn299Asp)
|
rs1262121352
|
|
|
NM_001165963.4(SCN1A):c.907A>T (p.Thr303Ser)
|
rs774358847
|
|
|
NM_001165963.4(SCN1A):c.914T>C (p.Ile305Thr)
|
|
|
|
NM_001165963.4(SCN1A):c.926T>A (p.Val309Asp)
|
rs748918170
|
|
|
NM_001165963.4(SCN1A):c.932A>G (p.Glu311Gly)
|
rs1574263480
|
|
|
NM_001165963.4(SCN1A):c.945G>A (p.Lys315=)
|
rs2105888618
|
|
|
NM_001165963.4(SCN1A):c.964+10_964+12del
|
|
|
|
NM_001165963.4(SCN1A):c.965-12T>G
|
rs1396858729
|
|
|
NM_001165963.4(SCN1A):c.965-14_965-11del
|
|
|
|
NM_001165963.4(SCN1A):c.965-15T>C
|
|
|
|
NM_001165963.4(SCN1A):c.984G>A (p.Glu328=)
|
|
|
|
NM_001184880.2(PCDH19):c.1002C>T (p.Val334=)
|
rs945213958
|
|
|
NM_001184880.2(PCDH19):c.1029G>T (p.Pro343=)
|
|
|
|
NM_001184880.2(PCDH19):c.1041C>T (p.Asn347=)
|
rs1182490407
|
|
|
NM_001184880.2(PCDH19):c.1045C>T (p.Leu349=)
|
|
|
|
NM_001184880.2(PCDH19):c.1056C>T (p.Asn352=)
|
rs2147539781
|
|
|
NM_001184880.2(PCDH19):c.1074C>T (p.Val358=)
|
|
|
|
NM_001184880.2(PCDH19):c.1083C>T (p.Ser361=)
|
|
|
|
NM_001184880.2(PCDH19):c.1095C>T (p.Gly365=)
|
rs926688509
|
|
|
NM_001184880.2(PCDH19):c.1101G>A (p.Val367=)
|
|
|
|
NM_001184880.2(PCDH19):c.1110G>A (p.Leu370=)
|
|
|
|
NM_001184880.2(PCDH19):c.1116G>A (p.Arg372=)
|
|
|
|
NM_001184880.2(PCDH19):c.1164G>A (p.Leu388=)
|
|
|
|
NM_001184880.2(PCDH19):c.1165C>T (p.Leu389=)
|
|
|
|
NM_001184880.2(PCDH19):c.1176G>T (p.Val392=)
|
rs1602636583
|
|
|
NM_001184880.2(PCDH19):c.1183C>A (p.Arg395=)
|
rs769967221
|
|
|
NM_001184880.2(PCDH19):c.1188G>T (p.Leu396=)
|
|
|
|
NM_001184880.2(PCDH19):c.1263C>T (p.Leu421=)
|
|
|
|
NM_001184880.2(PCDH19):c.1284C>A (p.Gly428=)
|
|
|
|
NM_001184880.2(PCDH19):c.12C>T (p.Leu4=)
|
rs1272402084
|
|
|
NM_001184880.2(PCDH19):c.1347C>T (p.Asn449=)
|
|
|
|
NM_001184880.2(PCDH19):c.1353G>T (p.Pro451=)
|
rs373795773
|
|
|
NM_001184880.2(PCDH19):c.1371C>T (p.Tyr457=)
|
|
|
|
NM_001184880.2(PCDH19):c.13C>T (p.Leu5=)
|
|
|
|
NM_001184880.2(PCDH19):c.1401G>T (p.Thr467=)
|
rs794726896
|
|
|
NM_001184880.2(PCDH19):c.1407C>A (p.Gly469=)
|
rs1060504502
|
|
|
NM_001184880.2(PCDH19):c.1440C>T (p.Pro480=)
|
rs1928386353
|
|
|
NM_001184880.2(PCDH19):c.1443C>T (p.Asp481=)
|
rs1602636091
|
|
|
NM_001184880.2(PCDH19):c.1446G>T (p.Leu482=)
|
|
|
|
NM_001184880.2(PCDH19):c.1455C>T (p.Asn485=)
|
rs2147538708
|
|
|
NM_001184880.2(PCDH19):c.1485G>T (p.Ser495=)
|
|
|
|
NM_001184880.2(PCDH19):c.1512C>T (p.Thr504=)
|
|
|
|
NM_001184880.2(PCDH19):c.1518C>A (p.Val506=)
|
|
|
|
NM_001184880.2(PCDH19):c.1536A>T (p.Ser512=)
|
|
|
|
NM_001184880.2(PCDH19):c.1581G>A (p.Lys527=)
|
|
|
|
NM_001184880.2(PCDH19):c.1620T>C (p.Leu540=)
|
|
|
|
NM_001184880.2(PCDH19):c.1641T>C (p.Ala547=)
|
rs2147538281
|
|
|
NM_001184880.2(PCDH19):c.1644G>C (p.Thr548=)
|
|
|
|
NM_001184880.2(PCDH19):c.1656C>T (p.Ile552=)
|
rs779051005
|
|
|
NM_001184880.2(PCDH19):c.1659C>T (p.Ile553=)
|
|
|
|
NM_001184880.2(PCDH19):c.165C>G (p.Pro55=)
|
rs1002430549
|
|
|
NM_001184880.2(PCDH19):c.1662C>G (p.Leu554=)
|
|
|
|
NM_001184880.2(PCDH19):c.1702C>T (p.Leu568=)
|
|
|
|
NM_001184880.2(PCDH19):c.1710C>T (p.Asn570=)
|
|
|
|
NM_001184880.2(PCDH19):c.1716T>A (p.Thr572=)
|
|
|
|
NM_001184880.2(PCDH19):c.1719C>G (p.Ala573=)
|
|
|
|
NM_001184880.2(PCDH19):c.1719C>T (p.Ala573=)
|
|
|
|
NM_001184880.2(PCDH19):c.1722G>A (p.Glu574=)
|
rs767824461
|
|
|
NM_001184880.2(PCDH19):c.1737C>A (p.Arg579=)
|
|
|
|
NM_001184880.2(PCDH19):c.1776A>T (p.Ala592=)
|
rs2147537845
|
|
|
NM_001184880.2(PCDH19):c.177A>C (p.Ser59=)
|
rs1466130318
|
|
|
NM_001184880.2(PCDH19):c.1785C>T (p.Tyr595=)
|
|
|
|
NM_001184880.2(PCDH19):c.1803C>T (p.Gly601=)
|
|
|
|
NM_001184880.2(PCDH19):c.1804C>A (p.Arg602=)
|
|
|
|
NM_001184880.2(PCDH19):c.1815C>T (p.Tyr605=)
|
rs1057521256
|
|
|
NM_001184880.2(PCDH19):c.1836C>T (p.Arg612=)
|
rs756311067
|
|
|
NM_001184880.2(PCDH19):c.1887C>T (p.Thr629=)
|
|
|
|
NM_001184880.2(PCDH19):c.1890C>T (p.Phe630=)
|
rs796052791
|
|
|
NM_001184880.2(PCDH19):c.1917G>A (p.Glu639=)
|
|
|
|
NM_001184880.2(PCDH19):c.1920T>G (p.Leu640=)
|
rs1602635297
|
|
|
NM_001184880.2(PCDH19):c.1968T>C (p.Ala656=)
|
|
|
|
NM_001184880.2(PCDH19):c.1971C>T (p.Leu657=)
|
|
|
|
NM_001184880.2(PCDH19):c.1974C>G (p.Val658=)
|
|
|
|
NM_001184880.2(PCDH19):c.1975C>T (p.Leu659=)
|
|
|
|
NM_001184880.2(PCDH19):c.1992T>G (p.Pro664=)
|
|
|
|
NM_001184880.2(PCDH19):c.1995T>C (p.Ala665=)
|
|
|
|
NM_001184880.2(PCDH19):c.2025G>A (p.Val675=)
|
rs2147537254
|
|
|
NM_001184880.2(PCDH19):c.2029T>C (p.Leu677=)
|
rs2147537247
|
|
|
NM_001184880.2(PCDH19):c.2037G>A (p.Leu679=)
|
rs1060504503
|
|
|
NM_001184880.2(PCDH19):c.2052C>G (p.Ala684=)
|
rs1555984966
|
|
|
NM_001184880.2(PCDH19):c.2052C>T (p.Ala684=)
|
rs1555984966
|
|
|
NM_001184880.2(PCDH19):c.2082A>T (p.Val694=)
|
|
|
|
NM_001184880.2(PCDH19):c.210C>T (p.His70=)
|
|
|
|
NM_001184880.2(PCDH19):c.2136C>T (p.Thr712=)
|
rs950694232
|
|
|
NM_001184880.2(PCDH19):c.2147+12T>C
|
|
|
|
NM_001184880.2(PCDH19):c.2175C>T (p.Leu725=)
|
rs777049971
|
|
|
NM_001184880.2(PCDH19):c.2181T>C (p.Cys727=)
|
rs2147534431
|
|
|
NM_001184880.2(PCDH19):c.21G>C (p.Pro7=)
|
rs1345525424
|
|
|
NM_001184880.2(PCDH19):c.2277A>T (p.Leu759=)
|
rs2147534303
|
|
|
NM_001184880.2(PCDH19):c.2288+16C>T
|
|
|
|
NM_001184880.2(PCDH19):c.2288+9G>C
|
|
|
|
NM_001184880.2(PCDH19):c.2289-4A>G
|
rs2147533541
|
|
|
NM_001184880.2(PCDH19):c.2301C>T (p.Tyr767=)
|
rs1057524610
|
|
|
NM_001184880.2(PCDH19):c.2316A>G (p.Gln772=)
|
|
|
|
NM_001184880.2(PCDH19):c.2319G>T (p.Lys773Asn)
|
rs765066118
|
|
|
NM_001184880.2(PCDH19):c.231C>T (p.Ser77=)
|
rs2147542388
|
|
|
NM_001184880.2(PCDH19):c.2331G>A (p.Lys777=)
|
|
|
|
NM_001184880.2(PCDH19):c.234T>C (p.Ser78=)
|
|
|
|
NM_001184880.2(PCDH19):c.2355C>T (p.Asp785=)
|
|
|
|
NM_001184880.2(PCDH19):c.2373G>T (p.Arg791=)
|
|
|
|
NM_001184880.2(PCDH19):c.2400C>T (p.Asn800=)
|
rs200756110
|
|
|
NM_001184880.2(PCDH19):c.2419C>T (p.Leu807=)
|
rs1555984464
|
|
|
NM_001184880.2(PCDH19):c.2445C>T (p.Asp815=)
|
rs1602632552
|
|
|
NM_001184880.2(PCDH19):c.2467C>T (p.Leu823=)
|
|
|
|
NM_001184880.2(PCDH19):c.2499G>A (p.Leu833=)
|
rs2147533161
|
|
|
NM_001184880.2(PCDH19):c.249C>G (p.Thr83=)
|
|
|
|
NM_001184880.2(PCDH19):c.2502T>C (p.Asn834=)
|
|
|
|
NM_001184880.2(PCDH19):c.2508G>A (p.Glu836=)
|
|
|
|
NM_001184880.2(PCDH19):c.2535T>C (p.Ala845=)
|
rs2147533082
|
|
|
NM_001184880.2(PCDH19):c.2571G>A (p.Gly857=)
|
rs1480768621
|
|
|
NM_001184880.2(PCDH19):c.2571G>T (p.Gly857=)
|
rs1480768621
|
|
|
NM_001184880.2(PCDH19):c.2617-19T>A
|
|
|
|
NM_001184880.2(PCDH19):c.2617-19T>C
|
|
|
|
NM_001184880.2(PCDH19):c.2646C>T (p.Tyr882=)
|
|
|
|
NM_001184880.2(PCDH19):c.2675+7T>C
|
rs1926541351
|
|
|
NM_001184880.2(PCDH19):c.2676-11C>T
|
|
|
|
NM_001184880.2(PCDH19):c.2676-17T>C
|
|
|
|
NM_001184880.2(PCDH19):c.2694C>T (p.Asp898=)
|
rs754570811
|
|
|
NM_001184880.2(PCDH19):c.2766G>A (p.Gln922=)
|
|
|
|
NM_001184880.2(PCDH19):c.2823C>T (p.Ser941=)
|
|
|
|
NM_001184880.2(PCDH19):c.2848+7A>G
|
|
|
|
NM_001184880.2(PCDH19):c.2979G>C (p.Leu993=)
|
|
|
|
NM_001184880.2(PCDH19):c.3051C>T (p.Thr1017=)
|
rs1283188999
|
|
|
NM_001184880.2(PCDH19):c.3066C>T (p.Val1022=)
|
|
|
|
NM_001184880.2(PCDH19):c.3075C>T (p.His1025=)
|
|
|
|
NM_001184880.2(PCDH19):c.3096C>T (p.Thr1032=)
|
|
|
|
NM_001184880.2(PCDH19):c.309C>T (p.Leu103=)
|
|
|
|
NM_001184880.2(PCDH19):c.30G>A (p.Leu10=)
|
rs2147542972
|
|
|
NM_001184880.2(PCDH19):c.3114T>C (p.Thr1038=)
|
rs2147446077
|
|
|
NM_001184880.2(PCDH19):c.3127A>T (p.Ile1043Phe)
|
rs189342249
|
|
|
NM_001184880.2(PCDH19):c.3138C>T (p.Pro1046=)
|
rs2147446027
|
|
|
NM_001184880.2(PCDH19):c.315C>T (p.Val105=)
|
rs1555985739
|
|
|
NM_001184880.2(PCDH19):c.3174C>A (p.Gly1058=)
|
|
|
|
NM_001184880.2(PCDH19):c.31C>T (p.Leu11=)
|
rs775517393
|
|
|
NM_001184880.2(PCDH19):c.3204C>A (p.Pro1068=)
|
rs377415279
|
|
|
NM_001184880.2(PCDH19):c.3204C>G (p.Pro1068=)
|
|
|
|
NM_001184880.2(PCDH19):c.3204C>T (p.Pro1068=)
|
rs377415279
|
|
|
NM_001184880.2(PCDH19):c.3219C>T (p.Ser1073=)
|
|
|
|
NM_001184880.2(PCDH19):c.3240C>T (p.Ser1080=)
|
|
|
|
NM_001184880.2(PCDH19):c.3300T>C (p.Asn1100=)
|
|
|
|
NM_001184880.2(PCDH19):c.3324C>T (p.Pro1108=)
|
|
|
|
NM_001184880.2(PCDH19):c.336C>T (p.Ile112=)
|
|
|
|
NM_001184880.2(PCDH19):c.3405A>G (p.Lys1135=)
|
rs1555972516
|
|
|
NM_001184880.2(PCDH19):c.3412C>T (p.Pro1138Ser)
|
rs778782448
|
|
|
NM_001184880.2(PCDH19):c.3415G>A (p.Gly1139Ser)
|
rs760947009
|
|
|
NM_001184880.2(PCDH19):c.378G>A (p.Ala126=)
|
|
|
|
NM_001184880.2(PCDH19):c.438G>A (p.Thr146=)
|
rs776584913
|
|
|
NM_001184880.2(PCDH19):c.474A>G (p.Ser158=)
|
|
|
|
NM_001184880.2(PCDH19):c.528G>T (p.Leu176=)
|
rs971048873
|
|
|
NM_001184880.2(PCDH19):c.540G>T (p.Thr180=)
|
|
|
|
NM_001184880.2(PCDH19):c.567A>G (p.Glu189=)
|
|
|
|
NM_001184880.2(PCDH19):c.570C>G (p.Leu190=)
|
|
|
|
NM_001184880.2(PCDH19):c.573G>A (p.Val191=)
|
|
|
|
NM_001184880.2(PCDH19):c.594C>A (p.Arg198=)
|
|
|
|
NM_001184880.2(PCDH19):c.606G>A (p.Ser202=)
|
|
|
|
NM_001184880.2(PCDH19):c.60C>T (p.Ala20=)
|
rs2147542847
|
|
|
NM_001184880.2(PCDH19):c.618C>T (p.Phe206=)
|
|
|
|
NM_001184880.2(PCDH19):c.636C>T (p.Asp212=)
|
|
|
|
NM_001184880.2(PCDH19):c.648G>A (p.Pro216=)
|
rs996601558
|
|
|
NM_001184880.2(PCDH19):c.678C>T (p.Ile226=)
|
|
|
|
NM_001184880.2(PCDH19):c.681G>A (p.Lys227=)
|
|
|
|
NM_001184880.2(PCDH19):c.687C>T (p.Thr229=)
|
rs1380357181
|
|
|
NM_001184880.2(PCDH19):c.735G>A (p.Val245=)
|
|
|
|
NM_001184880.2(PCDH19):c.765A>G (p.Thr255=)
|
rs2147540684
|
|
|
NM_001184880.2(PCDH19):c.783C>T (p.Asn261=)
|
rs1928431100
|
|
|
NM_001184880.2(PCDH19):c.795A>T (p.Pro265=)
|
rs1602637247
|
|
|
NM_001184880.2(PCDH19):c.804C>T (p.Gly268=)
|
|
|
|
NM_001184880.2(PCDH19):c.810C>T (p.Asn270=)
|
rs2147540518
|
|
|
NM_001184880.2(PCDH19):c.831C>T (p.Phe277=)
|
|
|
|
NM_001184880.2(PCDH19):c.84G>A (p.Ser28=)
|
|
|
|
NM_001184880.2(PCDH19):c.864C>G (p.Leu288=)
|
rs750350919
|
|
|
NM_001184880.2(PCDH19):c.873C>A (p.Ile291=)
|
|
|
|
NM_001184880.2(PCDH19):c.879G>C (p.Pro293=)
|
|
|
|
NM_001184880.2(PCDH19):c.882C>T (p.His294=)
|
rs2147540267
|
|
|
NM_001184880.2(PCDH19):c.891G>A (p.Leu297=)
|
|
|
|
NM_001184880.2(PCDH19):c.930C>T (p.His310=)
|
|
|
|
NM_001184880.2(PCDH19):c.957G>A (p.Lys319=)
|
|
|
|
NM_001184880.2(PCDH19):c.966G>A (p.Gly322=)
|
|
|
|
NM_001191061.2(SLC25A22):c.105G>A (p.Arg35=)
|
rs1292194098
|
|
|
NM_001191061.2(SLC25A22):c.111G>A (p.Gln37=)
|
|
|
|
NM_001191061.2(SLC25A22):c.114C>T (p.Asn38=)
|
rs1565039954
|
|
|
NM_001191061.2(SLC25A22):c.117G>A (p.Gln39=)
|
|
|
|
NM_001191061.2(SLC25A22):c.129G>A (p.Gln43=)
|
rs2133713161
|
|
|
NM_001191061.2(SLC25A22):c.12G>A (p.Lys4=)
|
|
|
|
NM_001191061.2(SLC25A22):c.133G>T (p.Val45Leu)
|
|
|
|
NM_001191061.2(SLC25A22):c.141G>A (p.Thr47=)
|
rs781681487
|
|
|
NM_001191061.2(SLC25A22):c.146+10C>T
|
|
|
|
NM_001191061.2(SLC25A22):c.146+15C>T
|
|
|
|
NM_001191061.2(SLC25A22):c.146+16G>A
|
|
|
|
NM_001191061.2(SLC25A22):c.146+19C>T
|
|
|
|
NM_001191061.2(SLC25A22):c.146+20G>T
|
rs533314464
|
|
|
NM_001191061.2(SLC25A22):c.147-18_147-17del
|
rs2133711440
|
|
|
NM_001191061.2(SLC25A22):c.147-20C>A
|
|
|
|
NM_001191061.2(SLC25A22):c.159C>T (p.Leu53=)
|
|
|
|
NM_001191061.2(SLC25A22):c.168C>T (p.Thr56=)
|
|
|
|
NM_001191061.2(SLC25A22):c.198C>T (p.Tyr66=)
|
|
|
|
NM_001191061.2(SLC25A22):c.20+14C>T
|
|
|
|
NM_001191061.2(SLC25A22):c.20+7C>A
|
rs376421164
|
|
|
NM_001191061.2(SLC25A22):c.202+12C>T
|
rs1005641775
|
|
|
NM_001191061.2(SLC25A22):c.202+15G>A
|
|
|
|
NM_001191061.2(SLC25A22):c.202+16G>A
|
|
|
|
NM_001191061.2(SLC25A22):c.202+18T>C
|
|
|
|
NM_001191061.2(SLC25A22):c.202+19G>A
|
|
|
|
NM_001191061.2(SLC25A22):c.202+9T>C
|
rs2133710655
|
|
|
NM_001191061.2(SLC25A22):c.203-12C>T
|
rs1432924818
|
|
|
NM_001191061.2(SLC25A22):c.203-14C>T
|
|
|
|
NM_001191061.2(SLC25A22):c.203-19C>A
|
|
|
|
NM_001191061.2(SLC25A22):c.203-7C>T
|
|
|
|
NM_001191061.2(SLC25A22):c.203-9G>A
|
|
|
|
NM_001191061.2(SLC25A22):c.210T>G (p.Ala70=)
|
rs1864648097
|
|
|
NM_001191061.2(SLC25A22):c.225C>T (p.Leu75=)
|
rs1394231259
|
|
|
NM_001191061.2(SLC25A22):c.22C>T (p.Leu8=)
|
rs2133714057
|
|
|
NM_001191061.2(SLC25A22):c.231C>T (p.Thr77=)
|
rs1466168732
|
|
|
NM_001191061.2(SLC25A22):c.234C>G (p.Pro78=)
|
|
|
|
NM_001191061.2(SLC25A22):c.258C>G (p.Ala86=)
|
|
|
|
NM_001191061.2(SLC25A22):c.258C>T (p.Ala86=)
|
|
|
|
NM_001191061.2(SLC25A22):c.291C>T (p.Asp97=)
|
|
|
|
NM_001191061.2(SLC25A22):c.293+12G>C
|
|
|
|
NM_001191061.2(SLC25A22):c.293+14C>G
|
rs1864642338
|
|
|
NM_001191061.2(SLC25A22):c.293+19A>G
|
|
|
|
NM_001191061.2(SLC25A22):c.294-10C>G
|
|
|
|
NM_001191061.2(SLC25A22):c.294-11C>T
|
rs756446956
|
|
|
NM_001191061.2(SLC25A22):c.294-7A>T
|
rs762588496
|
|
|
NM_001191061.2(SLC25A22):c.294-9C>T
|
rs201831836
|
|
|
NM_001191061.2(SLC25A22):c.318G>A (p.Glu106=)
|
rs1461046318
|
|
|
NM_001191061.2(SLC25A22):c.327G>C (p.Ala109=)
|
rs141975755
|
|
|
NM_001191061.2(SLC25A22):c.342C>T (p.Gly114=)
|
rs1590119517
|
|
|
NM_001191061.2(SLC25A22):c.366G>A (p.Thr122=)
|
|
|
|
NM_001191061.2(SLC25A22):c.369C>T (p.Pro123=)
|
rs1323870979
|
|
|
NM_001191061.2(SLC25A22):c.36C>A (p.Leu12=)
|
rs1172103007
|
|
|
NM_001191061.2(SLC25A22):c.36C>T (p.Leu12=)
|
rs1172103007
|
|
|
NM_001191061.2(SLC25A22):c.387C>T (p.Ile129=)
|
|
|
|
NM_001191061.2(SLC25A22):c.412+10G>A
|
rs113091974
|
|
|
NM_001191061.2(SLC25A22):c.412+17G>A
|
rs929871203
|
|
|
NM_001191061.2(SLC25A22):c.412+7G>A
|
|
|
|
NM_001191061.2(SLC25A22):c.412+8C>G
|
rs760438511
|
|
|
NM_001191061.2(SLC25A22):c.412+9G>C
|
rs369276282
|
|
|
NM_001191061.2(SLC25A22):c.413-6C>T
|
|
|
|
NM_001191061.2(SLC25A22):c.413-7T>C
|
rs969941249
|
|
|
NM_001191061.2(SLC25A22):c.444C>T (p.Gly148=)
|
|
|
|
NM_001191061.2(SLC25A22):c.456C>T (p.Ala152=)
|
|
|
|
NM_001191061.2(SLC25A22):c.462G>C (p.Gly154=)
|
|
|
|
NM_001191061.2(SLC25A22):c.477A>G (p.Ser159=)
|
rs2133701556
|
|
|
NM_001191061.2(SLC25A22):c.501G>A (p.Arg167=)
|
|
|
|
NM_001191061.2(SLC25A22):c.504C>G (p.Pro168=)
|
|
|
|
NM_001191061.2(SLC25A22):c.513C>T (p.Thr171=)
|
|
|
|
NM_001191061.2(SLC25A22):c.517C>T (p.Leu173=)
|
rs1306034932
|
|
|
NM_001191061.2(SLC25A22):c.532C>T (p.Leu178=)
|
rs1394480717
|
|
|
NM_001191061.2(SLC25A22):c.552C>A (p.Ala184=)
|
rs368807589
|
|
|
NM_001191061.2(SLC25A22):c.552C>T (p.Ala184=)
|
|
|
|
NM_001191061.2(SLC25A22):c.558C>T (p.Leu186=)
|
rs2133700836
|
|
|
NM_001191061.2(SLC25A22):c.570C>G (p.Leu190=)
|
rs145322467
|
|
|
NM_001191061.2(SLC25A22):c.587+11_587+17del
|
rs760895473
|
|
|
NM_001191061.2(SLC25A22):c.587+19G>A
|
rs1057520368
|
|
|
NM_001191061.2(SLC25A22):c.588-16_588-14del
|
|
|
|
NM_001191061.2(SLC25A22):c.627C>T (p.Ala209=)
|
rs2133699836
|
|
|
NM_001191061.2(SLC25A22):c.687C>T (p.Phe229=)
|
|
|
|
NM_001191061.2(SLC25A22):c.714C>G (p.Ala238=)
|
|
|
|
NM_001191061.2(SLC25A22):c.732C>T (p.Asn244=)
|
|
|
|
NM_001191061.2(SLC25A22):c.742+10T>C
|
|
|
|
NM_001191061.2(SLC25A22):c.742+10T>G
|
|
|
|
NM_001191061.2(SLC25A22):c.742+16G>A
|
rs1480885232
|
|
|
NM_001191061.2(SLC25A22):c.742+20C>G
|
|
|
|
NM_001191061.2(SLC25A22):c.742+7G>A
|
|
|
|
NM_001191061.2(SLC25A22):c.743-11G>A
|
|
|
|
NM_001191061.2(SLC25A22):c.743-11G>T
|
|
|
|
NM_001191061.2(SLC25A22):c.743-19A>G
|
|
|
|
NM_001191061.2(SLC25A22):c.743-8C>T
|
|
|
|
NM_001191061.2(SLC25A22):c.762G>A (p.Gln254=)
|
|
|
|
NM_001191061.2(SLC25A22):c.786G>A (p.Glu262=)
|
rs1365291767
|
|
|
NM_001191061.2(SLC25A22):c.798T>C (p.Ser266=)
|
|
|
|
NM_001191061.2(SLC25A22):c.810C>T (p.Asp270=)
|
|
|
|
NM_001191061.2(SLC25A22):c.818+16G>A
|
|
|
|
NM_001191061.2(SLC25A22):c.818+17G>C
|
|
|
|
NM_001191061.2(SLC25A22):c.818+19G>A
|
|
|
|
NM_001191061.2(SLC25A22):c.818+9del
|
|
|
|
NM_001191061.2(SLC25A22):c.819-7_819-5del
|
|
|
|
NM_001191061.2(SLC25A22):c.819-8C>A
|
|
|
|
NM_001191061.2(SLC25A22):c.829C>A (p.Arg277=)
|
rs567628237
|
|
|
NM_001191061.2(SLC25A22):c.864C>T (p.Ala288=)
|
rs551917192
|
|
|
NM_001191061.2(SLC25A22):c.882C>T (p.Val294=)
|
rs1445740400
|
|
|
NM_001191061.2(SLC25A22):c.891C>A (p.Pro297=)
|
|
|
|
NM_001191061.2(SLC25A22):c.891C>G (p.Pro297=)
|
|
|
|
NM_001191061.2(SLC25A22):c.927C>T (p.Gly309=)
|
|
|
|
NM_001191061.2(SLC25A22):c.936G>A (p.Glu312=)
|
|
|
|
NM_001191061.2(SLC25A22):c.939C>T (p.Ser313=)
|
|
|
|
NM_001191061.2(SLC25A22):c.940C>T (p.Leu314=)
|
rs1405191766
|
|
|
NM_001191061.2(SLC25A22):c.948G>T (p.Gly316=)
|
rs1554965239
|
|
|
NM_001191061.2(SLC25A22):c.99G>A (p.Lys33=)
|
|
|
|
NM_001199107.2(TBC1D24):c.1002C>G (p.Ala334=)
|
rs184389316
|
|
|
NM_001199107.2(TBC1D24):c.1008T>C (p.His336=)
|
rs961839071
|
|
|
NM_001199107.2(TBC1D24):c.1026G>C (p.Ser342=)
|
rs370244846
|
|
|
NM_001199107.2(TBC1D24):c.1074C>G (p.Pro358=)
|
|
|
|
NM_001199107.2(TBC1D24):c.1086C>T (p.Ala362=)
|
|
|
|
NM_001199107.2(TBC1D24):c.1095G>A (p.Gln365=)
|
rs2141874394
|
|
|
NM_001199107.2(TBC1D24):c.1110C>T (p.Phe370=)
|
rs1555501404
|
|
|
NM_001199107.2(TBC1D24):c.1116C>A (p.Ser372=)
|
|
|
|
NM_001199107.2(TBC1D24):c.1116C>T (p.Ser372=)
|
|
|
|
NM_001199107.2(TBC1D24):c.1119G>T (p.Leu373=)
|
rs2141874428
|
|
|
NM_001199107.2(TBC1D24):c.1143-5G>T
|
rs754105574
|
|
|
NM_001199107.2(TBC1D24):c.1143-9C>G
|
|
|
|
NM_001199107.2(TBC1D24):c.1167T>C (p.His389=)
|
rs2065771222
|
|
|
NM_001199107.2(TBC1D24):c.1180T>C (p.Leu394=)
|
|
|
|
NM_001199107.2(TBC1D24):c.1206+11G>C
|
|
|
|
NM_001199107.2(TBC1D24):c.1206+14C>T
|
|
|
|
NM_001199107.2(TBC1D24):c.1206+20CCAGGGCTGGCTCTGATGGGCT[4]
|
rs777798547
|
|
|
NM_001199107.2(TBC1D24):c.1207-20C>A
|
rs757347903
|
|
|
NM_001199107.2(TBC1D24):c.1207-20C>T
|
|
|
|
NM_001199107.2(TBC1D24):c.1207-6C>T
|
rs749626631
|
|
|
NM_001199107.2(TBC1D24):c.1207-7C>T
|
rs1348586468
|
|
|
NM_001199107.2(TBC1D24):c.1209G>T (p.Val403=)
|
|
|
|
NM_001199107.2(TBC1D24):c.1221C>T (p.Tyr407=)
|
rs2065775888
|
|
|
NM_001199107.2(TBC1D24):c.1269C>T (p.Gly423=)
|
|
|
|
NM_001199107.2(TBC1D24):c.1278G>A (p.Gly426=)
|
rs377748101
|
|
|
NM_001199107.2(TBC1D24):c.1302+19C>T
|
|
|
|
NM_001199107.2(TBC1D24):c.1303-18A>G
|
rs2141876962
|
|
|
NM_001199107.2(TBC1D24):c.1303-5C>G
|
rs1468286638
|
|
|
NM_001199107.2(TBC1D24):c.1303-7A>G
|
rs2141876976
|
|
|
NM_001199107.2(TBC1D24):c.1317G>A (p.Val439=)
|
|
|
|
NM_001199107.2(TBC1D24):c.1335G>C (p.Val445=)
|
|
|
|
NM_001199107.2(TBC1D24):c.1341C>A (p.Ile447=)
|
rs372317366
|
|
|
NM_001199107.2(TBC1D24):c.1347C>T (p.His449=)
|
|
|
|
NM_001199107.2(TBC1D24):c.1367C>T (p.Pro456Leu)
|
rs200641000
|
|
|
NM_001199107.2(TBC1D24):c.1371C>G (p.Pro457=)
|
|
|
|
NM_001199107.2(TBC1D24):c.1374G>A (p.Leu458=)
|
|
|
|
NM_001199107.2(TBC1D24):c.1407C>T (p.His469=)
|
rs2141877201
|
|
|
NM_001199107.2(TBC1D24):c.1410C>A (p.Ser470=)
|
rs553497128
|
|
|
NM_001199107.2(TBC1D24):c.1410C>G (p.Ser470=)
|
rs553497128
|
|
|
NM_001199107.2(TBC1D24):c.1413C>T (p.Ala471=)
|
rs761742075
|
|
|
NM_001199107.2(TBC1D24):c.144C>T (p.His48=)
|
rs765396824
|
|
|
NM_001199107.2(TBC1D24):c.1482C>T (p.Thr494=)
|
rs373862230
|
|
|
NM_001199107.2(TBC1D24):c.1500G>C (p.Ala500=)
|
rs201059992
|
|
|
NM_001199107.2(TBC1D24):c.1506C>T (p.Gly502=)
|
rs1302904331
|
|
|
NM_001199107.2(TBC1D24):c.1525+10A>G
|
|
|
|
NM_001199107.2(TBC1D24):c.1539C>T (p.Gly513=)
|
rs1466557404
|
|
|
NM_001199107.2(TBC1D24):c.1548C>T (p.Leu516=)
|
rs1555501692
|
|
|
NM_001199107.2(TBC1D24):c.1608G>A (p.Gln536=)
|
|
|
|
NM_001199107.2(TBC1D24):c.1620C>G (p.Ser540=)
|
|
|
|
NM_001199107.2(TBC1D24):c.1623G>A (p.Glu541=)
|
rs1596973590
|
|
|
NM_001199107.2(TBC1D24):c.1629C>T (p.Phe543=)
|
|
|
|
NM_001199107.2(TBC1D24):c.162G>A (p.Val54=)
|
|
|
|
NM_001199107.2(TBC1D24):c.1641C>A (p.Ala547=)
|
rs553215090
|
|
|
NM_001199107.2(TBC1D24):c.1641C>T (p.Ala547=)
|
rs553215090
|
|
|
NM_001199107.2(TBC1D24):c.1644G>A (p.Val548=)
|
|
|
|
NM_001199107.2(TBC1D24):c.1668T>C (p.Pro556=)
|
|
|
|
NM_001199107.2(TBC1D24):c.1671C>T (p.Asp557=)
|
|
|
|
NM_001199107.2(TBC1D24):c.192C>T (p.Cys64=)
|
rs878854271
|
|
|
NM_001199107.2(TBC1D24):c.216C>T (p.Ser72=)
|
rs749814291
|
|
|
NM_001199107.2(TBC1D24):c.264C>T (p.Ser88=)
|
rs2141871200
|
|
|
NM_001199107.2(TBC1D24):c.274C>T (p.Leu92=)
|
|
|
|
NM_001199107.2(TBC1D24):c.291C>T (p.Asp97=)
|
|
|
|
NM_001199107.2(TBC1D24):c.303G>A (p.Val101=)
|
|
|
|
NM_001199107.2(TBC1D24):c.321T>C (p.Asn107=)
|
|
|
|
NM_001199107.2(TBC1D24):c.327C>T (p.Arg109=)
|
rs754551693
|
|
|
NM_001199107.2(TBC1D24):c.339C>A (p.Ala113=)
|
|
|
|
NM_001199107.2(TBC1D24):c.348G>A (p.Lys116=)
|
|
|
|
NM_001199107.2(TBC1D24):c.354C>G (p.Leu118=)
|
rs2141871420
|
|
|
NM_001199107.2(TBC1D24):c.384C>T (p.Ile128=)
|
rs754479878
|
|
|
NM_001199107.2(TBC1D24):c.396C>T (p.Pro132=)
|
rs371937830
|
|
|
NM_001199107.2(TBC1D24):c.39C>T (p.Asp13=)
|
|
|
|
NM_001199107.2(TBC1D24):c.400C>T (p.Leu134=)
|
rs2065741660
|
|
|
NM_001199107.2(TBC1D24):c.417C>A (p.Ala139=)
|
|
|
|
NM_001199107.2(TBC1D24):c.418C>T (p.Leu140=)
|
|
|
|
NM_001199107.2(TBC1D24):c.438C>T (p.Ile146=)
|
rs776944981
|
|
|
NM_001199107.2(TBC1D24):c.456C>T (p.Phe152=)
|
rs2065742840
|
|
|
NM_001199107.2(TBC1D24):c.465C>T (p.Ala155=)
|
rs1596968205
|
|
|
NM_001199107.2(TBC1D24):c.477G>C (p.Leu159=)
|
|
|
|
NM_001199107.2(TBC1D24):c.489C>T (p.Asp163=)
|
|
|
|
NM_001199107.2(TBC1D24):c.492C>T (p.Pro164=)
|
rs369172908
|
|
|
NM_001199107.2(TBC1D24):c.507C>T (p.Ile169=)
|
rs529104933
|
|
|
NM_001199107.2(TBC1D24):c.555C>T (p.Asp185=)
|
|
|
|
NM_001199107.2(TBC1D24):c.57C>A (p.Ile19=)
|
|
|
|
NM_001199107.2(TBC1D24):c.600C>T (p.Ala200=)
|
|
|
|
NM_001199107.2(TBC1D24):c.612T>C (p.Asp204=)
|
|
|
|
NM_001199107.2(TBC1D24):c.624C>T (p.Val208=)
|
|
|
|
NM_001199107.2(TBC1D24):c.69G>A (p.Gly23=)
|
|
|
|
NM_001199107.2(TBC1D24):c.702G>A (p.Val234=)
|
rs188739853
|
|
|
NM_001199107.2(TBC1D24):c.702G>C (p.Val234=)
|
rs188739853
|
|
|
NM_001199107.2(TBC1D24):c.717G>A (p.Val239=)
|
|
|
|
NM_001199107.2(TBC1D24):c.777G>A (p.Pro259=)
|
|
|
|
NM_001199107.2(TBC1D24):c.777G>T (p.Pro259=)
|
|
|
|
NM_001199107.2(TBC1D24):c.792C>T (p.Ser264=)
|
rs769290045
|
|
|
NM_001199107.2(TBC1D24):c.804C>T (p.Asp268=)
|
|
|
|
NM_001199107.2(TBC1D24):c.816C>T (p.Phe272=)
|
rs796053402
|
|
|
NM_001199107.2(TBC1D24):c.831G>A (p.Ala277=)
|
|
|
|
NM_001199107.2(TBC1D24):c.840G>A (p.Val280=)
|
|
|
|
NM_001199107.2(TBC1D24):c.846T>C (p.Pro282=)
|
|
|
|
NM_001199107.2(TBC1D24):c.855G>C (p.Leu285=)
|
rs769201984
|
|
|
NM_001199107.2(TBC1D24):c.867G>A (p.Ala289=)
|
rs1328290571
|
|
|
NM_001199107.2(TBC1D24):c.930C>T (p.Ala310=)
|
|
|
|
NM_001199107.2(TBC1D24):c.954G>A (p.Val318=)
|
|
|
|
NM_001199107.2(TBC1D24):c.965+11G>C
|
rs568663296
|
|
|
NM_001199107.2(TBC1D24):c.965+15G>T
|
|
|
|
NM_001199107.2(TBC1D24):c.965+16C>G
|
rs2065750449
|
|
|
NM_001199107.2(TBC1D24):c.965+16C>T
|
|
|
|
NM_001199107.2(TBC1D24):c.965+17C>T
|
|
|
|
NM_001199107.2(TBC1D24):c.965+8G>T
|
rs372247100
|
|
|
NM_001199107.2(TBC1D24):c.966-11C>T
|
|
|
|
NM_001199107.2(TBC1D24):c.966-12_966-10del
|
rs2065755511
|
|
|
NM_001199107.2(TBC1D24):c.966-5T>C
|
|
|
|
NM_001199107.2(TBC1D24):c.972A>G (p.Ser324=)
|
|
|
|
NM_001199107.2(TBC1D24):c.983+15_983+16del
|
rs1064794673
|
|
|
NM_001199107.2(TBC1D24):c.983+19C>G
|
rs2141873600
|
|
|
NM_001199107.2(TBC1D24):c.984-11G>A
|
rs1297656612
|
|
|
NM_001199107.2(TBC1D24):c.984-16T>C
|
|
|
|
NM_001199107.2(TBC1D24):c.984-5C>T
|
rs535021783
|
|
|
NM_001199107.2(TBC1D24):c.984-7C>T
|
rs1432999070
|
|
|
NM_001271.4(CHD2):c.1008A>G (p.Lys336=)
|
|
|
|
NM_001271.4(CHD2):c.1011A>G (p.Lys337=)
|
|
|
|
NM_001271.4(CHD2):c.1032A>G (p.Lys344=)
|
|
|
|
NM_001271.4(CHD2):c.1052+12A>G
|
|
|
|
NM_001271.4(CHD2):c.1052+15A>G
|
|
|
|
NM_001271.4(CHD2):c.1052+16T>C
|
|
|
|
NM_001271.4(CHD2):c.1052+17G>A
|
|
|
|
NM_001271.4(CHD2):c.1053-11C>G
|
rs2141790964
|
|
|
NM_001271.4(CHD2):c.1053-17G>A
|
|
|
|
NM_001271.4(CHD2):c.1080A>G (p.Val360=)
|
|
|
|
NM_001271.4(CHD2):c.111G>A (p.Ser37=)
|
|
|
|
NM_001271.4(CHD2):c.1125A>G (p.Lys375=)
|
|
|
|
NM_001271.4(CHD2):c.1153+4_1153+7dup
|
|
|
|
NM_001271.4(CHD2):c.1153+9A>G
|
|
|
|
NM_001271.4(CHD2):c.1154-3del
|
rs760631104
|
|
|
NM_001271.4(CHD2):c.1154-5T>A
|
rs767803710
|
|
|
NM_001271.4(CHD2):c.1155T>C (p.Ala385=)
|
|
|
|
NM_001271.4(CHD2):c.1164A>G (p.Thr388=)
|
|
|
|
NM_001271.4(CHD2):c.1198+12A>G
|
|
|
|
NM_001271.4(CHD2):c.1198+18T>C
|
|
|
|
NM_001271.4(CHD2):c.1199-12T>A
|
rs1474100681
|
|
|
NM_001271.4(CHD2):c.1199-20A>T
|
|
|
|
NM_001271.4(CHD2):c.1199-8T>C
|
rs2141795407
|
|
|
NM_001271.4(CHD2):c.1203T>A (p.His401Gln)
|
rs1567137019
|
|
|
NM_001271.4(CHD2):c.1203T>C (p.His401=)
|
rs1567137019
|
|
|
NM_001271.4(CHD2):c.1225A>C (p.Asn409His)
|
rs531251618
|
|
|
NM_001271.4(CHD2):c.1260C>G (p.Leu420=)
|
rs772268139
|
|
|
NM_001271.4(CHD2):c.1272G>A (p.Glu424=)
|
|
|
|
NM_001271.4(CHD2):c.1284A>G (p.Glu428=)
|
rs2141795543
|
|
|
NM_001271.4(CHD2):c.1293C>T (p.Ala431=)
|
|
|
|
NM_001271.4(CHD2):c.1347C>T (p.Asn449=)
|
|
|
|
NM_001271.4(CHD2):c.1377+12G>T
|
|
|
|
NM_001271.4(CHD2):c.1377+16G>T
|
rs1182159823
|
|
|
NM_001271.4(CHD2):c.1378-14C>T
|
|
|
|
NM_001271.4(CHD2):c.1378-15G>A
|
|
|
|
NM_001271.4(CHD2):c.1378-15G>C
|
rs2053515097
|
|
|
NM_001271.4(CHD2):c.1380C>T (p.Ala460=)
|
|
|
|
NM_001271.4(CHD2):c.1502+18A>G
|
|
|
|
NM_001271.4(CHD2):c.1502+19G>T
|
|
|
|
NM_001271.4(CHD2):c.1503-10C>T
|
|
|
|
NM_001271.4(CHD2):c.1503-19T>C
|
rs1390489313
|
|
|
NM_001271.4(CHD2):c.1503-20T>C
|
|
|
|
NM_001271.4(CHD2):c.1521T>G (p.Leu507=)
|
rs2141811515
|
|
|
NM_001271.4(CHD2):c.1524T>G (p.Ala508=)
|
|
|
|
NM_001271.4(CHD2):c.1576C>T (p.Leu526=)
|
rs2141811552
|
|
|
NM_001271.4(CHD2):c.1581C>T (p.Phe527=)
|
rs2053579395
|
|
|
NM_001271.4(CHD2):c.158C>T (p.Ser53Leu)
|
rs368237024
|
|
|
NM_001271.4(CHD2):c.159G>T (p.Ser53=)
|
|
|
|
NM_001271.4(CHD2):c.1602C>T (p.Gly534=)
|
rs2141811584
|
|
|
NM_001271.4(CHD2):c.1629C>G (p.Ser543=)
|
|
|
|
NM_001271.4(CHD2):c.1632C>T (p.Thr544=)
|
|
|
|
NM_001271.4(CHD2):c.1641A>G (p.Ser547=)
|
|
|
|
NM_001271.4(CHD2):c.1686G>C (p.Val562=)
|
rs2141811679
|
|
|
NM_001271.4(CHD2):c.1719+18G>T
|
|
|
|
NM_001271.4(CHD2):c.171T>C (p.Ser57=)
|
rs2053018449
|
|
|
NM_001271.4(CHD2):c.171T>G (p.Ser57=)
|
|
|
|
NM_001271.4(CHD2):c.1720-17A>C
|
|
|
|
NM_001271.4(CHD2):c.1720-17A>G
|
|
|
|
NM_001271.4(CHD2):c.1720-7C>T
|
|
|
|
NM_001271.4(CHD2):c.1720-8T>C
|
rs2053606565
|
|
|
NM_001271.4(CHD2):c.1723C>A (p.Arg575=)
|
|
|
|
NM_001271.4(CHD2):c.1756A>C (p.Arg586=)
|
rs1596406455
|
|
|
NM_001271.4(CHD2):c.1759T>C (p.Leu587=)
|
|
|
|
NM_001271.4(CHD2):c.1771G>A (p.Ala591Thr)
|
rs1060503521
|
|
|
NM_001271.4(CHD2):c.1791G>A (p.Glu597=)
|
|
|
|
NM_001271.4(CHD2):c.1809+15T>A
|
|
|
|
NM_001271.4(CHD2):c.1810-20C>G
|
|
|
|
NM_001271.4(CHD2):c.1815G>A (p.Val605=)
|
|
|
|
NM_001271.4(CHD2):c.1836C>G (p.Ala612=)
|
|
|
|
NM_001271.4(CHD2):c.1881T>C (p.Ser627=)
|
rs2141816554
|
|
|
NM_001271.4(CHD2):c.1920T>C (p.His640=)
|
rs755517341
|
|
|
NM_001271.4(CHD2):c.1935G>A (p.Thr645=)
|
rs779686192
|
|
|
NM_001271.4(CHD2):c.1956C>A (p.Ser652=)
|
|
|
|
NM_001271.4(CHD2):c.1986T>C (p.Phe662=)
|
|
|
|
NM_001271.4(CHD2):c.2000+13C>T
|
|
|
|
NM_001271.4(CHD2):c.2000+15G>C
|
|
|
|
NM_001271.4(CHD2):c.2000+9C>T
|
|
|
|
NM_001271.4(CHD2):c.2001-20C>G
|
|
|
|
NM_001271.4(CHD2):c.2001-5C>G
|
|
|
|
NM_001271.4(CHD2):c.2019T>C (p.Asp673=)
|
|
|
|
NM_001271.4(CHD2):c.2043G>T (p.Gly681=)
|
|
|
|
NM_001271.4(CHD2):c.204C>T (p.Ser68=)
|
|
|
|
NM_001271.4(CHD2):c.2067T>G (p.Leu689=)
|
|
|
|
NM_001271.4(CHD2):c.2070T>C (p.His690=)
|
|
|
|
NM_001271.4(CHD2):c.2076G>T (p.Val692=)
|
|
|
|
NM_001271.4(CHD2):c.2077C>T (p.Leu693=)
|
|
|
|
NM_001271.4(CHD2):c.2097G>T (p.Arg699=)
|
|
|
|
NM_001271.4(CHD2):c.2112T>C (p.Asp704=)
|
|
|
|
NM_001271.4(CHD2):c.2118G>A (p.Glu706=)
|
rs763045714
|
|
|
NM_001271.4(CHD2):c.2124C>T (p.Ser708=)
|
|
|
|
NM_001271.4(CHD2):c.2189+15G>C
|
|
|
|
NM_001271.4(CHD2):c.2189+19T>C
|
|
|
|
NM_001271.4(CHD2):c.2189+8C>G
|
rs1486555733
|
|
|
NM_001271.4(CHD2):c.2189+8C>T
|
rs1486555733
|
|
|
NM_001271.4(CHD2):c.2189+8_2189+19del
|
|
|
|
NM_001271.4(CHD2):c.219C>A (p.Ser73=)
|
|
|
|
NM_001271.4(CHD2):c.2211C>T (p.Tyr737=)
|
|
|
|
NM_001271.4(CHD2):c.2223C>T (p.Ala741=)
|
|
|
|
NM_001271.4(CHD2):c.2238C>A (p.Gly746=)
|
|
|
|
NM_001271.4(CHD2):c.2244A>G (p.Thr748=)
|
rs760029815
|
|
|
NM_001271.4(CHD2):c.225C>T (p.Ser75=)
|
rs144667627
|
|
|
NM_001271.4(CHD2):c.2277A>G (p.Lys759=)
|
|
|
|
NM_001271.4(CHD2):c.2280A>G (p.Lys760=)
|
|
|
|
NM_001271.4(CHD2):c.2310C>T (p.Pro770=)
|
|
|
|
NM_001271.4(CHD2):c.231A>C (p.Pro77=)
|
|
|
|
NM_001271.4(CHD2):c.2337A>C (p.Gly779=)
|
rs138084718
|
|
|
NM_001271.4(CHD2):c.2349T>C (p.Leu783=)
|
rs1285009362
|
|
|
NM_001271.4(CHD2):c.234C>T (p.Val78=)
|
|
|
|
NM_001271.4(CHD2):c.2352+10del
|
rs1596419038
|
|
|
NM_001271.4(CHD2):c.2352+15A>G
|
|
|
|
NM_001271.4(CHD2):c.2352+7_2352+9del
|
rs775279701
|
|
|
NM_001271.4(CHD2):c.2353-15C>T
|
|
|
|
NM_001271.4(CHD2):c.2353-18T>C
|
|
|
|
NM_001271.4(CHD2):c.2358C>T (p.Leu786=)
|
rs760012115
|
|
|
NM_001271.4(CHD2):c.2362A>C (p.Arg788=)
|
|
|
|
NM_001271.4(CHD2):c.237C>T (p.Leu79=)
|
|
|
|
NM_001271.4(CHD2):c.2403A>G (p.Thr801=)
|
rs2141836198
|
|
|
NM_001271.4(CHD2):c.240A>G (p.Pro80=)
|
rs2141746164
|
|
|
NM_001271.4(CHD2):c.2412A>T (p.Arg804=)
|
rs2141836205
|
|
|
NM_001271.4(CHD2):c.2418G>A (p.Arg806=)
|
rs1330473840
|
|
|
NM_001271.4(CHD2):c.245C>G (p.Ala82Gly)
|
rs548561366
|
|
|
NM_001271.4(CHD2):c.2475A>G (p.Glu825=)
|
|
|
|
NM_001271.4(CHD2):c.2502C>T (p.Phe834=)
|
rs1461571191
|
|
|
NM_001271.4(CHD2):c.2505+16T>A
|
|
|
|
NM_001271.4(CHD2):c.2505+4A>G
|
rs767309501
|
|
|
NM_001271.4(CHD2):c.2505+9A>G
|
|
|
|
NM_001271.4(CHD2):c.2506-14G>T
|
|
|
|
NM_001271.4(CHD2):c.2506-17G>A
|
rs2141839109
|
|
|
NM_001271.4(CHD2):c.2506-4A>G
|
rs1259027522
|
|
|
NM_001271.4(CHD2):c.2511G>T (p.Leu837=)
|
rs2053887597
|
|
|
NM_001271.4(CHD2):c.2535C>A (p.Ile845=)
|
|
|
|
NM_001271.4(CHD2):c.2544G>A (p.Gln848=)
|
rs2053887752
|
|
|
NM_001271.4(CHD2):c.2547A>G (p.Ala849=)
|
rs1596423292
|
|
|
NM_001271.4(CHD2):c.2571G>A (p.Gly857=)
|
rs2141839178
|
|
|
NM_001271.4(CHD2):c.2577+15G>A
|
|
|
|
NM_001271.4(CHD2):c.2577+7T>G
|
|
|
|
NM_001271.4(CHD2):c.2577+8A>G
|
rs867398061
|
|
|
NM_001271.4(CHD2):c.2577+9T>C
|
|
|
|
NM_001271.4(CHD2):c.2592G>A (p.Leu864=)
|
rs2141843178
|
|
|
NM_001271.4(CHD2):c.2595C>G (p.Leu865=)
|
rs1478427410
|
|
|
NM_001271.4(CHD2):c.2614C>T (p.Leu872=)
|
rs2141843184
|
|
|
NM_001271.4(CHD2):c.2628G>A (p.Leu876=)
|
|
|
|
NM_001271.4(CHD2):c.2646C>T (p.Val882=)
|
|
|
|
NM_001271.4(CHD2):c.2682C>T (p.Asp894=)
|
|
|
|
NM_001271.4(CHD2):c.2700A>G (p.Arg900=)
|
|
|
|
NM_001271.4(CHD2):c.2727+16C>T
|
|
|
|
NM_001271.4(CHD2):c.2727+20T>A
|
|
|
|
NM_001271.4(CHD2):c.2727+7A>G
|
rs1408693780
|
|
|
NM_001271.4(CHD2):c.2727+9G>A
|
rs1245946446
|
|
|
NM_001271.4(CHD2):c.2728-12del
|
|
|
|
NM_001271.4(CHD2):c.2728-13C>A
|
|
|
|
NM_001271.4(CHD2):c.2728-20A>T
|
|
|
|
NM_001271.4(CHD2):c.2728-8T>C
|
rs762774089
|
|
|
NM_001271.4(CHD2):c.2743T>C (p.Leu915=)
|
rs112279925
|
|
|
NM_001271.4(CHD2):c.2847G>A (p.Thr949=)
|
rs756812749
|
|
|
NM_001271.4(CHD2):c.2876+10A>G
|
rs2053946994
|
|
|
NM_001271.4(CHD2):c.2876+7G>T
|
rs2141844294
|
|
|
NM_001271.4(CHD2):c.2877-17A>G
|
rs764609850
|
|
|
NM_001271.4(CHD2):c.2877-4A>G
|
|
|
|
NM_001271.4(CHD2):c.2877-5C>T
|
rs1248829265
|
|
|
NM_001271.4(CHD2):c.294+19A>G
|
|
|
|
NM_001271.4(CHD2):c.294+20G>A
|
|
|
|
NM_001271.4(CHD2):c.294+7A>G
|
rs1351696136
|
|
|
NM_001271.4(CHD2):c.295-12_295-11del
|
|
|
|
NM_001271.4(CHD2):c.2955G>C (p.Gly985=)
|
|
|
|
NM_001271.4(CHD2):c.2973+18_2973+23del
|
|
|
|
NM_001271.4(CHD2):c.2973+8A>T
|
|
|
|
NM_001271.4(CHD2):c.2973+9C>T
|
rs1596431717
|
|
|
NM_001271.4(CHD2):c.2974-10G>A
|
|
|
|
NM_001271.4(CHD2):c.2974-4T>C
|
|
|
|
NM_001271.4(CHD2):c.2982T>C (p.Asp994=)
|
rs372974686
|
|
|
NM_001271.4(CHD2):c.2998C>T (p.Arg1000Trp)
|
rs758134774
|
|
|
NM_001271.4(CHD2):c.3000G>A (p.Arg1000=)
|
|
|
|
NM_001271.4(CHD2):c.3021T>C (p.Asn1007=)
|
rs2141847120
|
|
|
NM_001271.4(CHD2):c.3036T>C (p.Ser1012=)
|
rs768946382
|
|
|
NM_001271.4(CHD2):c.3066+19G>A
|
|
|
|
NM_001271.4(CHD2):c.3066+20A>G
|
rs946119641
|
|
|
NM_001271.4(CHD2):c.3067-10C>G
|
rs2141850547
|
|
|
NM_001271.4(CHD2):c.3078T>C (p.Phe1026=)
|
rs2141850566
|
|
|
NM_001271.4(CHD2):c.3111G>A (p.Glu1037=)
|
rs2141850590
|
|
|
NM_001271.4(CHD2):c.3126C>G (p.Asp1042Glu)
|
rs150268140
|
|
|
NM_001271.4(CHD2):c.3153A>G (p.Gln1051=)
|
rs1312097410
|
|
|
NM_001271.4(CHD2):c.3165A>G (p.Val1055=)
|
rs758991890
|
|
|
NM_001271.4(CHD2):c.3168G>A (p.Glu1056=)
|
rs1555443360
|
|
|
NM_001271.4(CHD2):c.3168G>T (p.Glu1056Asp)
|
rs1555443360
|
|
|
NM_001271.4(CHD2):c.3237+19A>G
|
|
|
|
NM_001271.4(CHD2):c.3237+20G>A
|
|
|
|
NM_001271.4(CHD2):c.3238-12G>A
|
rs1276545339
|
|
|
NM_001271.4(CHD2):c.3238-16C>T
|
rs2054030766
|
|
|
NM_001271.4(CHD2):c.3238-5C>T
|
rs1555443468
|
|
|
NM_001271.4(CHD2):c.3264C>T (p.Asp1088=)
|
|
|
|
NM_001271.4(CHD2):c.3265A>C (p.Thr1089Pro)
|
rs1596437938
|
|
|
NM_001271.4(CHD2):c.3285C>G (p.Ala1095=)
|
|
|
|
NM_001271.4(CHD2):c.3298G>C (p.Ala1100Pro)
|
|
|
|
NM_001271.4(CHD2):c.3303T>C (p.Ser1101=)
|
|
|
|
NM_001271.4(CHD2):c.3306G>A (p.Glu1102=)
|
|
|
|
NM_001271.4(CHD2):c.3314C>T (p.Thr1105Met)
|
rs1567152717
|
|
|
NM_001271.4(CHD2):c.331C>A (p.Arg111=)
|
rs1040550014
|
|
|
NM_001271.4(CHD2):c.3333C>T (p.Asp1111=)
|
|
|
|
NM_001271.4(CHD2):c.3345G>A (p.Lys1115=)
|
rs2054031847
|
|
|
NM_001271.4(CHD2):c.3360G>A (p.Pro1120=)
|
|
|
|
NM_001271.4(CHD2):c.3381C>T (p.Leu1127=)
|
|
|
|
NM_001271.4(CHD2):c.3387G>A (p.Glu1129=)
|
|
|
|
NM_001271.4(CHD2):c.3413+13T>A
|
|
|
|
NM_001271.4(CHD2):c.3413+16G>T
|
|
|
|
NM_001271.4(CHD2):c.3414-11C>T
|
rs2054119012
|
|
|
NM_001271.4(CHD2):c.3414-20T>C
|
|
|
|
NM_001271.4(CHD2):c.3414-5C>T
|
|
|
|
NM_001271.4(CHD2):c.3414-5_3414-3del
|
|
|
|
NM_001271.4(CHD2):c.3417C>T (p.Phe1139=)
|
|
|
|
NM_001271.4(CHD2):c.3455+11T>C
|
rs2141859897
|
|
|
NM_001271.4(CHD2):c.3455+12G>A
|
|
|
|
NM_001271.4(CHD2):c.3455+9A>G
|
rs199958087
|
|
|
NM_001271.4(CHD2):c.3456-15T>C
|
|
|
|
NM_001271.4(CHD2):c.3456-19C>G
|
rs780531827
|
|
|
NM_001271.4(CHD2):c.3456-8C>T
|
rs1394301788
|
|
|
NM_001271.4(CHD2):c.346A>C (p.Arg116=)
|
|
|
|
NM_001271.4(CHD2):c.3471A>G (p.Ala1157=)
|
|
|
|
NM_001271.4(CHD2):c.3486G>A (p.Leu1162=)
|
rs1229609376
|
|
|
NM_001271.4(CHD2):c.3486G>C (p.Leu1162=)
|
|
|
|
NM_001271.4(CHD2):c.3519G>C (p.Leu1173=)
|
rs377400826
|
|
|
NM_001271.4(CHD2):c.3522T>C (p.Gly1174=)
|
|
|
|
NM_001271.4(CHD2):c.3526C>T (p.Leu1176=)
|
|
|
|
NM_001271.4(CHD2):c.3537C>T (p.Asn1179=)
|
|
|
|
NM_001271.4(CHD2):c.3549A>G (p.Ser1183=)
|
|
|
|
NM_001271.4(CHD2):c.3576G>A (p.Leu1192=)
|
|
|
|
NM_001271.4(CHD2):c.3579A>G (p.Lys1193=)
|
rs2141861699
|
|
|
NM_001271.4(CHD2):c.3595+14G>A
|
|
|
|
NM_001271.4(CHD2):c.3595+9A>G
|
|
|
|
NM_001271.4(CHD2):c.3596-10T>C
|
|
|
|
NM_001271.4(CHD2):c.3596-10T>G
|
rs1596446956
|
|
|
NM_001271.4(CHD2):c.3596-6T>C
|
|
|
|
NM_001271.4(CHD2):c.3606A>G (p.Pro1202=)
|
rs2054196905
|
|
|
NM_001271.4(CHD2):c.360G>A (p.Ser120=)
|
rs1409764161
|
|
|
NM_001271.4(CHD2):c.3613A>C (p.Arg1205=)
|
|
|
|
NM_001271.4(CHD2):c.3684G>A (p.Glu1228=)
|
rs766134171
|
|
|
NM_001271.4(CHD2):c.3687T>C (p.Phe1229=)
|
|
|
|
NM_001271.4(CHD2):c.3698A>G (p.His1233Arg)
|
rs2054197477
|
|
|
NM_001271.4(CHD2):c.3705T>C (p.Ser1235=)
|
|
|
|
NM_001271.4(CHD2):c.3708C>T (p.Ile1236=)
|
rs2054197617
|
|
|
NM_001271.4(CHD2):c.3729A>G (p.Lys1243=)
|
rs2054197942
|
|
|
NM_001271.4(CHD2):c.3732A>G (p.Lys1244=)
|
|
|
|
NM_001271.4(CHD2):c.3734+20A>C
|
|
|
|
NM_001271.4(CHD2):c.3734+9A>G
|
|
|
|
NM_001271.4(CHD2):c.3735-10C>T
|
|
|
|
NM_001271.4(CHD2):c.3735-11A>C
|
|
|
|
NM_001271.4(CHD2):c.3735-18T>C
|
|
|
|
NM_001271.4(CHD2):c.3738C>T (p.Tyr1246=)
|
rs2054200384
|
|
|
NM_001271.4(CHD2):c.3801T>C (p.Ser1267=)
|
|
|
|
NM_001271.4(CHD2):c.3805C>T (p.Leu1269=)
|
|
|
|
NM_001271.4(CHD2):c.3807G>A (p.Leu1269=)
|
rs1040196048
|
|
|
NM_001271.4(CHD2):c.3807G>T (p.Leu1269=)
|
rs1040196048
|
|
|
NM_001271.4(CHD2):c.381+11A>T
|
rs2141752541
|
|
|
NM_001271.4(CHD2):c.381+12A>G
|
|
|
|
NM_001271.4(CHD2):c.381+12del
|
rs778998281
|
|
|
NM_001271.4(CHD2):c.381+14G>C
|
|
|
|
NM_001271.4(CHD2):c.3811C>T (p.Leu1271=)
|
|
|
|
NM_001271.4(CHD2):c.382-12C>G
|
|
|
|
NM_001271.4(CHD2):c.382-14del
|
|
|
|
NM_001271.4(CHD2):c.382-17C>T
|
|
|
|
NM_001271.4(CHD2):c.382-20T>C
|
rs2141755276
|
|
|
NM_001271.4(CHD2):c.382-9A>C
|
rs1555437848
|
|
|
NM_001271.4(CHD2):c.3879T>A (p.Thr1293=)
|
rs2054201169
|
|
|
NM_001271.4(CHD2):c.3885+16A>G
|
|
|
|
NM_001271.4(CHD2):c.3885+9C>T
|
|
|
|
NM_001271.4(CHD2):c.3886-10C>T
|
|
|
|
NM_001271.4(CHD2):c.3886-11dup
|
|
|
|
NM_001271.4(CHD2):c.3886-9T>C
|
|
|
|
NM_001271.4(CHD2):c.3891G>C (p.Leu1297=)
|
|
|
|
NM_001271.4(CHD2):c.3897G>T (p.Val1299=)
|
rs2141868862
|
|
|
NM_001271.4(CHD2):c.3903A>G (p.Thr1301=)
|
rs200766577
|
|
|
NM_001271.4(CHD2):c.3936C>G (p.Thr1312=)
|
|
|
|
NM_001271.4(CHD2):c.3942G>A (p.Ala1314=)
|
|
|
|
NM_001271.4(CHD2):c.3958C>T (p.Leu1320=)
|
rs2141868909
|
|
|
NM_001271.4(CHD2):c.4008+10C>A
|
|
|
|
NM_001271.4(CHD2):c.4008+16G>T
|
|
|
|
NM_001271.4(CHD2):c.4008+17C>G
|
rs2141868997
|
|
|
NM_001271.4(CHD2):c.4008+19G>C
|
|
|
|
NM_001271.4(CHD2):c.4008+9G>A
|
|
|
|
NM_001271.4(CHD2):c.4008+9G>C
|
rs369142709
|
|
|
NM_001271.4(CHD2):c.4008+9G>T
|
rs369142709
|
|
|
NM_001271.4(CHD2):c.4009-19A>C
|
rs2141871654
|
|
|
NM_001271.4(CHD2):c.4009-19A>G
|
rs2141871654
|
|
|
NM_001271.4(CHD2):c.4034G>A (p.Arg1345Gln)
|
rs751507887
|
|
|
NM_001271.4(CHD2):c.4035G>A (p.Arg1345=)
|
|
|
|
NM_001271.4(CHD2):c.4038A>G (p.Val1346=)
|
|
|
|
NM_001271.4(CHD2):c.4067A>G (p.Lys1356Arg)
|
|
|
|
NM_001271.4(CHD2):c.4074G>A (p.Glu1358=)
|
|
|
|
NM_001271.4(CHD2):c.4089T>G (p.Leu1363=)
|
rs2141871747
|
|
|
NM_001271.4(CHD2):c.4095T>C (p.Ser1365=)
|
rs777131411
|
|
|
NM_001271.4(CHD2):c.4099A>C (p.Arg1367=)
|
|
|
|
NM_001271.4(CHD2):c.4125G>A (p.Glu1375=)
|
rs2054242561
|
|
|
NM_001271.4(CHD2):c.4138-11T>C
|
|
|
|
NM_001271.4(CHD2):c.4138-18C>T
|
rs775111839
|
|
|
NM_001271.4(CHD2):c.4138-19_4138-18delinsTA
|
rs1555444947
|
|
|
NM_001271.4(CHD2):c.4188G>A (p.Glu1396=)
|
|
|
|
NM_001271.4(CHD2):c.4191CAAGGAGAA[1] (p.1397NKE[1])
|
rs779732210
|
|
|
NM_001271.4(CHD2):c.4257G>A (p.Lys1419=)
|
rs1318336358
|
|
|
NM_001271.4(CHD2):c.4260A>C (p.Ser1420=)
|
rs760422132
|
|
|
NM_001271.4(CHD2):c.4260A>G (p.Ser1420=)
|
rs760422132
|
|
|
NM_001271.4(CHD2):c.4278+20C>G
|
rs762068313
|
|
|
NM_001271.4(CHD2):c.4278+4ATG[3]
|
rs780977518
|
|
|
NM_001271.4(CHD2):c.4278+7A>T
|
rs1000622773
|
|
|
NM_001271.4(CHD2):c.4279-12C>G
|
|
|
|
NM_001271.4(CHD2):c.4296C>G (p.Ala1432=)
|
rs1596452047
|
|
|
NM_001271.4(CHD2):c.42G>C (p.Ser14=)
|
|
|
|
NM_001271.4(CHD2):c.4305G>A (p.Ser1435=)
|
|
|
|
NM_001271.4(CHD2):c.4371A>T (p.Gly1457=)
|
|
|
|
NM_001271.4(CHD2):c.4413+13A>T
|
|
|
|
NM_001271.4(CHD2):c.4413+15C>G
|
|
|
|
NM_001271.4(CHD2):c.4413+18G>A
|
rs1331622431
|
|
|
NM_001271.4(CHD2):c.4413+19G>C
|
rs376928152
|
|
|
NM_001271.4(CHD2):c.4413+20G>A
|
|
|
|
NM_001271.4(CHD2):c.4414-14T>C
|
|
|
|
NM_001271.4(CHD2):c.4414-17C>A
|
rs2054359181
|
|
|
NM_001271.4(CHD2):c.4414-19C>G
|
|
|
|
NM_001271.4(CHD2):c.443+16G>A
|
|
|
|
NM_001271.4(CHD2):c.443+20A>G
|
|
|
|
NM_001271.4(CHD2):c.4434C>T (p.Pro1478=)
|
rs199572989
|
|
|
NM_001271.4(CHD2):c.444-4A>C
|
rs369479687
|
|
|
NM_001271.4(CHD2):c.444-4A>G
|
rs369479687
|
|
|
NM_001271.4(CHD2):c.4440A>G (p.Lys1480=)
|
|
|
|
NM_001271.4(CHD2):c.4470C>T (p.Asp1490=)
|
|
|
|
NM_001271.4(CHD2):c.4476G>A (p.Gly1492=)
|
|
|
|
NM_001271.4(CHD2):c.4497G>A (p.Leu1499=)
|
|
|
|
NM_001271.4(CHD2):c.4503C>T (p.His1501=)
|
rs2054360183
|
|
|
NM_001271.4(CHD2):c.4505C>G (p.Thr1502Ser)
|
rs956620619
|
|
|
NM_001271.4(CHD2):c.4516C>T (p.Leu1506=)
|
|
|
|
NM_001271.4(CHD2):c.4557C>G (p.Ala1519=)
|
rs138253997
|
|
|
NM_001271.4(CHD2):c.4560C>T (p.Tyr1520=)
|
rs1596454969
|
|
|
NM_001271.4(CHD2):c.456A>G (p.Lys152=)
|
rs2141773450
|
|
|
NM_001271.4(CHD2):c.4578C>A (p.Ile1526=)
|
|
|
|
NM_001271.4(CHD2):c.4578C>T (p.Ile1526=)
|
rs143876394
|
|
|
NM_001271.4(CHD2):c.4584C>A (p.Leu1528=)
|
|
|
|
NM_001271.4(CHD2):c.4584C>T (p.Leu1528=)
|
rs543526502
|
|
|
NM_001271.4(CHD2):c.4592+11T>G
|
|
|
|
NM_001271.4(CHD2):c.4592+7A>C
|
|
|
|
NM_001271.4(CHD2):c.4593-14A>C
|
|
|
|
NM_001271.4(CHD2):c.4593-14A>G
|
|
|
|
NM_001271.4(CHD2):c.4593-4T>G
|
rs2141885411
|
|
|
NM_001271.4(CHD2):c.45A>G (p.Leu15=)
|
rs1009840698
|
|
|
NM_001271.4(CHD2):c.4626A>G (p.Glu1542=)
|
rs2054404334
|
|
|
NM_001271.4(CHD2):c.462A>G (p.Glu154=)
|
|
|
|
NM_001271.4(CHD2):c.4653A>G (p.Leu1551=)
|
|
|
|
NM_001271.4(CHD2):c.4675A>C (p.Arg1559=)
|
rs2141885460
|
|
|
NM_001271.4(CHD2):c.4692+20del
|
|
|
|
NM_001271.4(CHD2):c.4693-19G>C
|
|
|
|
NM_001271.4(CHD2):c.4716G>T (p.Val1572=)
|
rs2141888143
|
|
|
NM_001271.4(CHD2):c.4719T>G (p.Thr1573=)
|
rs2054436203
|
|
|
NM_001271.4(CHD2):c.4721G>A (p.Gly1574Glu)
|
rs56227200
|
|
|
NM_001271.4(CHD2):c.4727A>G (p.Lys1576Arg)
|
rs2141888165
|
|
|
NM_001271.4(CHD2):c.4728G>A (p.Lys1576=)
|
|
|
|
NM_001271.4(CHD2):c.4749C>T (p.Ala1583=)
|
rs1183396141
|
|
|
NM_001271.4(CHD2):c.4758C>T (p.Ser1586=)
|
|
|
|
NM_001271.4(CHD2):c.477A>G (p.Glu159=)
|
rs2141773476
|
|
|
NM_001271.4(CHD2):c.4797C>T (p.His1599=)
|
rs1596458228
|
|
|
NM_001271.4(CHD2):c.4822T>C (p.Leu1608=)
|
rs201452886
|
|
|
NM_001271.4(CHD2):c.4840C>A (p.Pro1614Thr)
|
|
|
|
NM_001271.4(CHD2):c.4842A>G (p.Pro1614=)
|
|
|
|
NM_001271.4(CHD2):c.4845G>A (p.Gln1615=)
|
rs1427359303
|
|
|
NM_001271.4(CHD2):c.4866T>C (p.Asp1622=)
|
rs2141888326
|
|
|
NM_001271.4(CHD2):c.486A>G (p.Gln162=)
|
|
|
|
NM_001271.4(CHD2):c.4890A>G (p.Arg1630=)
|
rs1596458291
|
|
|
NM_001271.4(CHD2):c.4901A>T (p.Asn1634Ile)
|
rs761860129
|
|
|
NM_001271.4(CHD2):c.4906+16dup
|
|
|
|
NM_001271.4(CHD2):c.4906+19T>C
|
|
|
|
NM_001271.4(CHD2):c.4906+7C>T
|
|
|
|
NM_001271.4(CHD2):c.4907-12_4907-9del
|
rs764356498
|
|
|
NM_001271.4(CHD2):c.4907-13T>A
|
|
|
|
NM_001271.4(CHD2):c.4907-13dup
|
rs1343290835
|
|
|
NM_001271.4(CHD2):c.4907-16C>G
|
|
|
|
NM_001271.4(CHD2):c.4907-7C>T
|
|
|
|
NM_001271.4(CHD2):c.4926G>A (p.Arg1642=)
|
rs2141895125
|
|
|
NM_001271.4(CHD2):c.4938C>T (p.Phe1646=)
|
|
|
|
NM_001271.4(CHD2):c.4945G>A (p.Gly1649Ser)
|
rs781717447
|
|
|
NM_001271.4(CHD2):c.4958A>G (p.Asn1653Ser)
|
rs2054514401
|
|
|
NM_001271.4(CHD2):c.4968A>T (p.Pro1656=)
|
|
|
|
NM_001271.4(CHD2):c.5004C>T (p.His1668=)
|
rs770874614
|
|
|
NM_001271.4(CHD2):c.5010C>T (p.Tyr1670=)
|
rs369883738
|
|
|
NM_001271.4(CHD2):c.5016C>T (p.Asp1672=)
|
|
|
|
NM_001271.4(CHD2):c.5025T>C (p.Tyr1675=)
|
|
|
|
NM_001271.4(CHD2):c.5051A>G (p.His1684Arg)
|
rs770784804
|
|
|
NM_001271.4(CHD2):c.5058C>G (p.Ser1686=)
|
|
|
|
NM_001271.4(CHD2):c.5063_5064delinsAT (p.Ser1688Asn)
|
rs1555446342
|
|
|
NM_001271.4(CHD2):c.5078A>G (p.Asn1693Ser)
|
rs764702103
|
|
|
NM_001271.4(CHD2):c.5103C>T (p.Asp1701=)
|
|
|
|
NM_001271.4(CHD2):c.5109C>T (p.Tyr1703=)
|
rs2141895374
|
|
|
NM_001271.4(CHD2):c.5136C>T (p.His1712=)
|
|
|
|
NM_001271.4(CHD2):c.5146T>G (p.Tyr1716Asp)
|
rs1555446358
|
|
|
NM_001271.4(CHD2):c.5153+13C>T
|
rs2141895433
|
|
|
NM_001271.4(CHD2):c.5153+15G>A
|
|
|
|
NM_001271.4(CHD2):c.5153+20A>G
|
|
|
|
NM_001271.4(CHD2):c.5153+8A>G
|
rs1032969529
|
|
|
NM_001271.4(CHD2):c.5154-12T>C
|
rs2141761261
|
|
|
NM_001271.4(CHD2):c.5154-9_5154-8del
|
|
|
|
NM_001271.4(CHD2):c.5163T>C (p.His1721=)
|
|
|
|
NM_001271.4(CHD2):c.5174G>A (p.Arg1725Gln)
|
rs1240488615
|
|
|
NM_001271.4(CHD2):c.5199T>G (p.Pro1733=)
|
|
|
|
NM_001271.4(CHD2):c.5202A>G (p.Gln1734=)
|
|
|
|
NM_001271.4(CHD2):c.5228G>A (p.Arg1743Gln)
|
rs1230076038
|
|
|
NM_001271.4(CHD2):c.5274C>T (p.Pro1758=)
|
|
|
|
NM_001271.4(CHD2):c.5279A>G (p.Asp1760Gly)
|
rs1596463935
|
|
|
NM_001271.4(CHD2):c.5343C>T (p.His1781=)
|
rs190327730
|
|
|
NM_001271.4(CHD2):c.5406C>T (p.Pro1802=)
|
rs1567168673
|
|
|
NM_001271.4(CHD2):c.5454C>T (p.Asn1818=)
|
|
|
|
NM_001271.4(CHD2):c.551+17A>C
|
|
|
|
NM_001271.4(CHD2):c.551+8G>A
|
|
|
|
NM_001271.4(CHD2):c.552-10C>G
|
|
|
|
NM_001271.4(CHD2):c.552-9T>C
|
|
|
|
NM_001271.4(CHD2):c.555A>G (p.Thr185=)
|
|
|
|
NM_001271.4(CHD2):c.558G>A (p.Val186=)
|
rs766588440
|
|
|
NM_001271.4(CHD2):c.57A>G (p.Ala19=)
|
rs1412598141
|
|
|
NM_001271.4(CHD2):c.588G>A (p.Lys196=)
|
|
|
|
NM_001271.4(CHD2):c.595C>A (p.Arg199Ser)
|
rs764705223
|
|
|
NM_001271.4(CHD2):c.596G>C (p.Arg199Pro)
|
rs367550855
|
|
|
NM_001271.4(CHD2):c.59C>T (p.Ser20Leu)
|
rs1057524801
|
|
|
NM_001271.4(CHD2):c.615A>G (p.Gln205=)
|
|
|
|
NM_001271.4(CHD2):c.62+18_62+21del
|
|
|
|
NM_001271.4(CHD2):c.62+19C>T
|
|
|
|
NM_001271.4(CHD2):c.62+22_62+25del
|
|
|
|
NM_001271.4(CHD2):c.624T>G (p.Ser208=)
|
|
|
|
NM_001271.4(CHD2):c.63-17C>G
|
|
|
|
NM_001271.4(CHD2):c.63-19C>G
|
|
|
|
NM_001271.4(CHD2):c.63-22TC[5]
|
rs749583665
|
|
|
NM_001271.4(CHD2):c.642T>C (p.Asp214=)
|
rs2053325593
|
|
|
NM_001271.4(CHD2):c.648A>G (p.Glu216=)
|
|
|
|
NM_001271.4(CHD2):c.669T>G (p.Arg223=)
|
|
|
|
NM_001271.4(CHD2):c.66C>T (p.His22=)
|
rs2141745833
|
|
|
NM_001271.4(CHD2):c.678G>A (p.Ala226=)
|
|
|
|
NM_001271.4(CHD2):c.678G>T (p.Ala226=)
|
|
|
|
NM_001271.4(CHD2):c.692+10A>G
|
rs370469675
|
|
|
NM_001271.4(CHD2):c.692+16G>A
|
rs2141778590
|
|
|
NM_001271.4(CHD2):c.692+20T>G
|
|
|
|
NM_001271.4(CHD2):c.692+8G>A
|
|
|
|
NM_001271.4(CHD2):c.693-10C>T
|
rs374771910
|
|
|
NM_001271.4(CHD2):c.708T>C (p.Asp236=)
|
|
|
|
NM_001271.4(CHD2):c.720T>A (p.Thr240=)
|
rs762283261
|
|
|
NM_001271.4(CHD2):c.720T>C (p.Thr240=)
|
rs762283261
|
|
|
NM_001271.4(CHD2):c.777T>C (p.Asn259=)
|
|
|
|
NM_001271.4(CHD2):c.813G>A (p.Leu271=)
|
rs907174346
|
|
|
NM_001271.4(CHD2):c.826+14G>C
|
|
|
|
NM_001271.4(CHD2):c.827-10C>G
|
rs2141787300
|
|
|
NM_001271.4(CHD2):c.827-15T>G
|
|
|
|
NM_001271.4(CHD2):c.846T>C (p.Thr282=)
|
|
|
|
NM_001271.4(CHD2):c.846T>G (p.Thr282=)
|
rs763813072
|
|
|
NM_001271.4(CHD2):c.849A>T (p.Val283=)
|
|
|
|
NM_001271.4(CHD2):c.855G>C (p.Ala285=)
|
rs138796857
|
|
|
NM_001271.4(CHD2):c.930G>A (p.Lys310=)
|
rs1318106648
|
|
|
NM_001271.4(CHD2):c.948C>T (p.Tyr316=)
|
|
|
|
NM_001271.4(CHD2):c.951C>T (p.Ile317=)
|
|
|
|
NM_001271.4(CHD2):c.978C>G (p.Ser326=)
|
rs2141787594
|
|
|
NM_001271.4(CHD2):c.981A>G (p.Leu327=)
|
|
|
|
NM_001271.4(CHD2):c.99A>G (p.Ser33=)
|
|
|
|
NM_001323289.2(CDKL5):c.100-20C>T
|
|
|
|
NM_001323289.2(CDKL5):c.1011T>C (p.Ser337=)
|
|
|
|
NM_001323289.2(CDKL5):c.1062C>T (p.Pro354=)
|
|
|
|
NM_001323289.2(CDKL5):c.1106G>A (p.Gly369Glu)
|
|
|
|
NM_001323289.2(CDKL5):c.1136T>G (p.Leu379Arg)
|
|
|
|
NM_001323289.2(CDKL5):c.1164C>T (p.Ser388=)
|
|
|
|
NM_001323289.2(CDKL5):c.1198A>C (p.Asn400His)
|
rs921600020
|
|
|
NM_001323289.2(CDKL5):c.120G>C (p.Ala40=)
|
|
|
|
NM_001323289.2(CDKL5):c.1213CTT[1] (p.Leu406del)
|
rs759725174
|
|
|
NM_001323289.2(CDKL5):c.1242A>G (p.Lys414=)
|
|
|
|
NM_001323289.2(CDKL5):c.1272G>A (p.Lys424=)
|
rs1926270928
|
|
|
NM_001323289.2(CDKL5):c.1287A>G (p.Pro429=)
|
rs2147160563
|
|
|
NM_001323289.2(CDKL5):c.1311C>T (p.Asn437=)
|
|
|
|
NM_001323289.2(CDKL5):c.1317A>G (p.Arg439=)
|
rs2147160587
|
|
|
NM_001323289.2(CDKL5):c.1339T>C (p.Phe447Leu)
|
|
|
|
NM_001323289.2(CDKL5):c.1377G>A (p.Gln459=)
|
rs2147160664
|
|
|
NM_001323289.2(CDKL5):c.1382A>G (p.Asn461Ser)
|
rs267608629
|
|
|
NM_001323289.2(CDKL5):c.1387A>G (p.Lys463Glu)
|
|
|
|
NM_001323289.2(CDKL5):c.1413C>T (p.Asp471=)
|
rs2147160714
|
|
|
NM_001323289.2(CDKL5):c.1442C>G (p.Ser481Cys)
|
|
|
|
NM_001323289.2(CDKL5):c.145+17_145+42del
|
rs1305984337
|
|
|
NM_001323289.2(CDKL5):c.145+5AT[15]
|
rs745969938
|
|
|
NM_001323289.2(CDKL5):c.145+5AT[6]
|
rs745969938
|
|
|
NM_001323289.2(CDKL5):c.145+5AT[8]
|
|
|
|
NM_001323289.2(CDKL5):c.1455_1460del (p.Ala486_Lys487del)
|
rs587783114
|
|
|
NM_001323289.2(CDKL5):c.146-14T>G
|
|
|
|
NM_001323289.2(CDKL5):c.146-15T>C
|
|
|
|
NM_001323289.2(CDKL5):c.146-16A>G
|
|
|
|
NM_001323289.2(CDKL5):c.146-18_146-16del
|
|
|
|
NM_001323289.2(CDKL5):c.146-7A>G
|
|
|
|
NM_001323289.2(CDKL5):c.146-8C>T
|
|
|
|
NM_001323289.2(CDKL5):c.1515G>A (p.Arg505=)
|
|
|
|
NM_001323289.2(CDKL5):c.1542T>C (p.Ser514=)
|
|
|
|
NM_001323289.2(CDKL5):c.1554A>G (p.Pro518=)
|
|
|
|
NM_001323289.2(CDKL5):c.1580C>T (p.Pro527Leu)
|
rs748615147
|
|
|
NM_001323289.2(CDKL5):c.1590A>C (p.Pro530=)
|
rs891117762
|
|
|
NM_001323289.2(CDKL5):c.1596C>T (p.Pro532=)
|
|
|
|
NM_001323289.2(CDKL5):c.1701G>T (p.Thr567=)
|
rs751738489
|
|
|
NM_001323289.2(CDKL5):c.1713G>A (p.Leu571=)
|
|
|
|
NM_001323289.2(CDKL5):c.1795A>G (p.Thr599Ala)
|
rs761662406
|
|
|
NM_001323289.2(CDKL5):c.1800C>T (p.Ser600=)
|
|
|
|
NM_001323289.2(CDKL5):c.1815G>A (p.Gln605=)
|
|
|
|
NM_001323289.2(CDKL5):c.1821T>C (p.Arg607=)
|
|
|
|
NM_001323289.2(CDKL5):c.1866C>T (p.Ala622=)
|
|
|
|
NM_001323289.2(CDKL5):c.1890C>T (p.Ser630=)
|
rs2147161290
|
|
|
NM_001323289.2(CDKL5):c.1906G>T (p.Ala636Ser)
|
|
|
|
NM_001323289.2(CDKL5):c.1944+15C>G
|
|
|
|
NM_001323289.2(CDKL5):c.1945-5T>C
|
rs1064796245
|
|
|
NM_001323289.2(CDKL5):c.1945-8A>C
|
rs2147164149
|
|
|
NM_001323289.2(CDKL5):c.1947T>C (p.Pro649=)
|
rs2147164157
|
|
|
NM_001323289.2(CDKL5):c.1980A>G (p.Ala660=)
|
|
|
|
NM_001323289.2(CDKL5):c.1989G>A (p.Ser663=)
|
rs1156694391
|
|
|
NM_001323289.2(CDKL5):c.2016C>T (p.Thr672=)
|
|
|
|
NM_001323289.2(CDKL5):c.2037G>A (p.Gln679=)
|
|
|
|
NM_001323289.2(CDKL5):c.2040G>A (p.Lys680=)
|
rs761995288
|
|
|
NM_001323289.2(CDKL5):c.2046+10A>G
|
|
|
|
NM_001323289.2(CDKL5):c.2046+11A>G
|
rs111749777
|
|
|
NM_001323289.2(CDKL5):c.2047-15T>A
|
|
|
|
NM_001323289.2(CDKL5):c.2047-5C>T
|
|
|
|
NM_001323289.2(CDKL5):c.2061T>C (p.His687=)
|
|
|
|
NM_001323289.2(CDKL5):c.2085A>G (p.Thr695=)
|
rs2147164693
|
|
|
NM_001323289.2(CDKL5):c.2106C>T (p.His702=)
|
rs1057520416
|
|
|
NM_001323289.2(CDKL5):c.2121T>C (p.Pro707=)
|
|
|
|
NM_001323289.2(CDKL5):c.2135T>C (p.Val712Ala)
|
rs1926475375
|
|
|
NM_001323289.2(CDKL5):c.2152+10C>T
|
rs763466606
|
|
|
NM_001323289.2(CDKL5):c.2152+16G>A
|
|
|
|
NM_001323289.2(CDKL5):c.2152+9A>T
|
|
|
|
NM_001323289.2(CDKL5):c.2153-10C>G
|
|
|
|
NM_001323289.2(CDKL5):c.2153-16C>A
|
|
|
|
NM_001323289.2(CDKL5):c.2153-20C>A
|
|
|
|
NM_001323289.2(CDKL5):c.2157A>G (p.Pro719=)
|
|
|
|
NM_001323289.2(CDKL5):c.2164C>T (p.Arg722Cys)
|
|
|
|
NM_001323289.2(CDKL5):c.2167C>T (p.Pro723Ser)
|
rs2147167531
|
|
|
NM_001323289.2(CDKL5):c.2193T>C (p.Asn731=)
|
|
|
|
NM_001323289.2(CDKL5):c.21T>C (p.Gly7=)
|
rs1922604912
|
|
|
NM_001323289.2(CDKL5):c.2217A>G (p.Leu739=)
|
rs1602292116
|
|
|
NM_001323289.2(CDKL5):c.222G>A (p.Glu74=)
|
|
|
|
NM_001323289.2(CDKL5):c.2243A>C (p.Asn748Thr)
|
rs748459878
|
|
|
NM_001323289.2(CDKL5):c.2268C>T (p.Phe756=)
|
|
|
|
NM_001323289.2(CDKL5):c.2276+18T>C
|
|
|
|
NM_001323289.2(CDKL5):c.2277-13T>A
|
rs1413641177
|
|
|
NM_001323289.2(CDKL5):c.2310A>T (p.Gln770His)
|
rs2147172236
|
|
|
NM_001323289.2(CDKL5):c.2319A>G (p.Glu773=)
|
|
|
|
NM_001323289.2(CDKL5):c.231A>G (p.Glu77=)
|
rs1602269399
|
|
|
NM_001323289.2(CDKL5):c.234A>G (p.Ala78=)
|
rs1288226865
|
|
|
NM_001323289.2(CDKL5):c.2376+11G>T
|
|
|
|
NM_001323289.2(CDKL5):c.2376+18T>A
|
|
|
|
NM_001323289.2(CDKL5):c.2377-18G>C
|
|
|
|
NM_001323289.2(CDKL5):c.2377-4C>G
|
|
|
|
NM_001323289.2(CDKL5):c.2389G>C (p.Asp797His)
|
rs140313320
|
|
|
NM_001323289.2(CDKL5):c.2426A>G (p.His809Arg)
|
rs1602298609
|
|
|
NM_001323289.2(CDKL5):c.2485C>G (p.Leu829Val)
|
|
|
|
NM_001323289.2(CDKL5):c.2487G>C (p.Leu829=)
|
|
|
|
NM_001323289.2(CDKL5):c.2493C>T (p.Thr831=)
|
rs1555954758
|
|
|
NM_001323289.2(CDKL5):c.2496+16A>G
|
|
|
|
NM_001323289.2(CDKL5):c.2497-6_2497-3del
|
rs2147178840
|
|
|
NM_001323289.2(CDKL5):c.2505A>G (p.Pro835=)
|
rs2147178868
|
|
|
NM_001323289.2(CDKL5):c.2655G>A (p.Gly885=)
|
|
|
|
NM_001323289.2(CDKL5):c.2668C>A (p.Arg890=)
|
rs1354788122
|
|
|
NM_001323289.2(CDKL5):c.2679C>T (p.Pro893=)
|
rs777919249
|
|
|
NM_001323289.2(CDKL5):c.2685G>A (p.Pro895=)
|
|
|
|
NM_001323289.2(CDKL5):c.273T>C (p.Tyr91=)
|
|
|
|
NM_001323289.2(CDKL5):c.282+15G>A
|
|
|
|
NM_001323289.2(CDKL5):c.282+16C>A
|
rs1456184121
|
|
|
NM_001323289.2(CDKL5):c.282+18A>G
|
|
|
|
NM_001323289.2(CDKL5):c.283-11T>G
|
|
|
|
NM_001323289.2(CDKL5):c.283-12_283-9del
|
rs754433548
|
|
|
NM_001323289.2(CDKL5):c.283-15C>G
|
|
|
|
NM_001323289.2(CDKL5):c.283-15_283-14del
|
|
|
|
NM_001323289.2(CDKL5):c.283-18A>T
|
|
|
|
NM_001323289.2(CDKL5):c.291C>G (p.Leu97=)
|
rs138125282
|
|
|
NM_001323289.2(CDKL5):c.295T>C (p.Leu99=)
|
rs2147142589
|
|
|
NM_001323289.2(CDKL5):c.396C>T (p.Val132=)
|
rs1602271730
|
|
|
NM_001323289.2(CDKL5):c.404-16T>A
|
|
|
|
NM_001323289.2(CDKL5):c.462T>C (p.Phe154=)
|
rs898874642
|
|
|
NM_001323289.2(CDKL5):c.463+16A>G
|
|
|
|
NM_001323289.2(CDKL5):c.480G>C (p.Leu160=)
|
rs750878642
|
|
|
NM_001323289.2(CDKL5):c.480G>T (p.Leu160=)
|
rs750878642
|
|
|
NM_001323289.2(CDKL5):c.507A>C (p.Thr169=)
|
|
|
|
NM_001323289.2(CDKL5):c.51G>A (p.Gly17=)
|
|
|
|
NM_001323289.2(CDKL5):c.532C>A (p.Arg178=)
|
|
|
|
NM_001323289.2(CDKL5):c.546C>T (p.Leu182=)
|
|
|
|
NM_001323289.2(CDKL5):c.554+17A>G
|
|
|
|
NM_001323289.2(CDKL5):c.555-17C>T
|
|
|
|
NM_001323289.2(CDKL5):c.555-19C>A
|
|
|
|
NM_001323289.2(CDKL5):c.555-19C>T
|
|
|
|
NM_001323289.2(CDKL5):c.588G>A (p.Ser196=)
|
|
|
|
NM_001323289.2(CDKL5):c.621A>T (p.Gly207=)
|
|
|
|
NM_001323289.2(CDKL5):c.64+14T>C
|
|
|
|
NM_001323289.2(CDKL5):c.64+18C>T
|
|
|
|
NM_001323289.2(CDKL5):c.65-7A>C
|
|
|
|
NM_001323289.2(CDKL5):c.678G>T (p.Val226=)
|
|
|
|
NM_001323289.2(CDKL5):c.735T>C (p.His245=)
|
|
|
|
NM_001323289.2(CDKL5):c.745-15G>A
|
rs2147153513
|
|
|
NM_001323289.2(CDKL5):c.745-20C>A
|
|
|
|
NM_001323289.2(CDKL5):c.783A>G (p.Arg261=)
|
rs1925958381
|
|
|
NM_001323289.2(CDKL5):c.810A>G (p.Leu270=)
|
rs2147153595
|
|
|
NM_001323289.2(CDKL5):c.825+7C>T
|
|
|
|
NM_001323289.2(CDKL5):c.825+9A>G
|
rs2147153613
|
|
|
NM_001323289.2(CDKL5):c.907C>T (p.Leu303=)
|
|
|
|
NM_001323289.2(CDKL5):c.914G>A (p.Arg305His)
|
|
|
|
NM_001323289.2(CDKL5):c.915T>G (p.Arg305=)
|
rs1170498240
|
|
|
NM_001323289.2(CDKL5):c.918T>C (p.Ser306=)
|
|
|
|
NM_001323289.2(CDKL5):c.978-3T>C
|
rs2147160073
|
|
|
NM_001323289.2(CDKL5):c.984A>G (p.Gln328=)
|
rs2147160092
|
|
|
NM_001323289.2(CDKL5):c.988G>A (p.Gly330Ser)
|
rs760930296
|
|
|
NM_001323289.2(CDKL5):c.99+9A>C
|
|
|
|
NM_001323289.2(CDKL5):c.99+9A>T
|
rs1602233003
|
|
|
NM_001330260.2(SCN8A):c.1008A>G (p.Gly336=)
|
rs1320831122
|
|
|
NM_001330260.2(SCN8A):c.1014G>A (p.Gln338=)
|
rs746131591
|
|
|
NM_001330260.2(SCN8A):c.1026A>G (p.Ala342=)
|
rs2138742369
|
|
|
NM_001330260.2(SCN8A):c.1044T>C (p.Tyr348=)
|
|
|
|
NM_001330260.2(SCN8A):c.1119A>G (p.Glu373=)
|
rs1592390546
|
|
|
NM_001330260.2(SCN8A):c.1125G>A (p.Leu375=)
|
rs2138742562
|
|
|
NM_001330260.2(SCN8A):c.1134+11C>T
|
|
|
|
NM_001330260.2(SCN8A):c.1134+12C>G
|
rs760180910
|
|
|
NM_001330260.2(SCN8A):c.1134+12C>T
|
rs760180910
|
|
|
NM_001330260.2(SCN8A):c.1135-11T>C
|
|
|
|
NM_001330260.2(SCN8A):c.1135-12T>C
|
|
|
|
NM_001330260.2(SCN8A):c.1135-8C>T
|
rs998011038
|
|
|
NM_001330260.2(SCN8A):c.1176C>G (p.Val392=)
|
rs1941767463
|
|
|
NM_001330260.2(SCN8A):c.1182C>A (p.Val394=)
|
rs758200381
|
|
|
NM_001330260.2(SCN8A):c.1212C>T (p.Asn404=)
|
rs1565893673
|
|
|
NM_001330260.2(SCN8A):c.1245A>G (p.Glu415=)
|
rs2138748310
|
|
|
NM_001330260.2(SCN8A):c.1263A>G (p.Thr421=)
|
rs780254154
|
|
|
NM_001330260.2(SCN8A):c.1342-15T>A
|
|
|
|
NM_001330260.2(SCN8A):c.1342-15T>C
|
rs751585098
|
|
|
NM_001330260.2(SCN8A):c.1342-5C>T
|
|
|
|
NM_001330260.2(SCN8A):c.1365A>G (p.Ala455=)
|
|
|
|
NM_001330260.2(SCN8A):c.1371T>A (p.Thr457=)
|
rs972703260
|
|
|
NM_001330260.2(SCN8A):c.1392G>A (p.Glu464=)
|
rs1592393593
|
|
|
NM_001330260.2(SCN8A):c.1401T>G (p.Gly467=)
|
|
|
|
NM_001330260.2(SCN8A):c.1425G>A (p.Arg475=)
|
rs2138750179
|
|
|
NM_001330260.2(SCN8A):c.1455A>G (p.Ser485=)
|
rs763721137
|
|
|
NM_001330260.2(SCN8A):c.1479C>T (p.Asn493=)
|
rs2138750366
|
|
|
NM_001330260.2(SCN8A):c.1485A>G (p.Arg495=)
|
|
|
|
NM_001330260.2(SCN8A):c.1497G>A (p.Lys499=)
|
|
|
|
NM_001330260.2(SCN8A):c.1500A>G (p.Gln500=)
|
|
|
|
NM_001330260.2(SCN8A):c.1506A>G (p.Glu502=)
|
|
|
|
NM_001330260.2(SCN8A):c.1509C>T (p.Leu503=)
|
|
|
|
NM_001330260.2(SCN8A):c.1542G>A (p.Lys514=)
|
|
|
|
NM_001330260.2(SCN8A):c.156G>A (p.Lys52=)
|
|
|
|
NM_001330260.2(SCN8A):c.1591C>T (p.Leu531=)
|
rs773176178
|
|
|
NM_001330260.2(SCN8A):c.159C>T (p.Pro53=)
|
|
|
|
NM_001330260.2(SCN8A):c.15G>C (p.Leu5=)
|
rs757637034
|
|
|
NM_001330260.2(SCN8A):c.1601A>G (p.Asn534Ser)
|
rs760459642
|
|
|
NM_001330260.2(SCN8A):c.1605A>G (p.Arg535=)
|
|
|
|
NM_001330260.2(SCN8A):c.162G>A (p.Lys54=)
|
rs779576167
|
|
|
NM_001330260.2(SCN8A):c.1632T>C (p.Asn544=)
|
|
|
|
NM_001330260.2(SCN8A):c.1635+11_1635+15del
|
|
|
|
NM_001330260.2(SCN8A):c.1635+6_1635+15dup
|
rs1197393846
|
|
|
NM_001330260.2(SCN8A):c.1635+7T>C
|
rs998275281
|
|
|
NM_001330260.2(SCN8A):c.1636-14G>C
|
|
|
|
NM_001330260.2(SCN8A):c.1636-15T>C
|
|
|
|
NM_001330260.2(SCN8A):c.1636-17C>T
|
|
|
|
NM_001330260.2(SCN8A):c.1636-6dup
|
rs1241750822
|
|
|
NM_001330260.2(SCN8A):c.1653A>G (p.Pro551=)
|
rs1213382628
|
|
|
NM_001330260.2(SCN8A):c.1662C>T (p.Pro554=)
|
rs1555221470
|
|
|
NM_001330260.2(SCN8A):c.1668C>T (p.Leu556=)
|
rs2138782135
|
|
|
NM_001330260.2(SCN8A):c.1676A>G (p.His559Arg)
|
|
|
|
NM_001330260.2(SCN8A):c.1680C>T (p.Asn560=)
|
rs2138782181
|
|
|
NM_001330260.2(SCN8A):c.168C>T (p.Asn56=)
|
rs1940955072
|
|
|
NM_001330260.2(SCN8A):c.1707G>A (p.Arg569=)
|
rs267603508
|
|
|
NM_001330260.2(SCN8A):c.1717C>A (p.Arg573=)
|
rs370074236
|
|
|
NM_001330260.2(SCN8A):c.1731G>A (p.Pro577=)
|
|
|
|
NM_001330260.2(SCN8A):c.1731G>C (p.Pro577=)
|
|
|
|
NM_001330260.2(SCN8A):c.1791C>G (p.Arg597=)
|
rs1942065806
|
|
|
NM_001330260.2(SCN8A):c.1791C>T (p.Arg597=)
|
rs1942065806
|
|
|
NM_001330260.2(SCN8A):c.1797C>T (p.Asp599=)
|
|
|
|
NM_001330260.2(SCN8A):c.1809C>T (p.Ile603=)
|
rs1942066515
|
|
|
NM_001330260.2(SCN8A):c.1818G>A (p.Arg606=)
|
|
|
|
NM_001330260.2(SCN8A):c.1818G>T (p.Arg606=)
|
rs777424314
|
|
|
NM_001330260.2(SCN8A):c.1824C>A (p.Arg608=)
|
|
|
|
NM_001330260.2(SCN8A):c.1824C>T (p.Arg608=)
|
rs756753738
|
|
|
NM_001330260.2(SCN8A):c.1860C>T (p.Tyr620=)
|
rs180727641
|
|
|
NM_001330260.2(SCN8A):c.1881G>T (p.Ser627=)
|
|
|
|
NM_001330260.2(SCN8A):c.1890C>T (p.Phe630=)
|
|
|
|
NM_001330260.2(SCN8A):c.1893C>G (p.Pro631=)
|
|
|
|
NM_001330260.2(SCN8A):c.1914G>A (p.Lys638=)
|
|
|
|
NM_001330260.2(SCN8A):c.1932C>T (p.Asp644=)
|
|
|
|
NM_001330260.2(SCN8A):c.1938C>T (p.Asn646=)
|
|
|
|
NM_001330260.2(SCN8A):c.1965C>T (p.Pro655=)
|
|
|
|
NM_001330260.2(SCN8A):c.1977C>T (p.Ile659=)
|
rs886049583
|
|
|
NM_001330260.2(SCN8A):c.1989C>G (p.Leu663=)
|
|
|
|
NM_001330260.2(SCN8A):c.1999-12T>C
|
|
|
|
NM_001330260.2(SCN8A):c.1999-13T>G
|
|
|
|
NM_001330260.2(SCN8A):c.1999-15T>C
|
|
|
|
NM_001330260.2(SCN8A):c.1999-18C>T
|
|
|
|
NM_001330260.2(SCN8A):c.1999-4A>G
|
rs765240974
|
|
|
NM_001330260.2(SCN8A):c.1999-5_1999-4del
|
|
|
|
NM_001330260.2(SCN8A):c.1999-8T>C
|
|
|
|
NM_001330260.2(SCN8A):c.2031C>T (p.Gly677=)
|
|
|
|
NM_001330260.2(SCN8A):c.2077C>T (p.Arg693Trp)
|
rs2138828841
|
|
|
NM_001330260.2(SCN8A):c.2115A>G (p.Thr705=)
|
|
|
|
NM_001330260.2(SCN8A):c.2131+20A>T
|
|
|
|
NM_001330260.2(SCN8A):c.2132-11A>T
|
rs1942591191
|
|
|
NM_001330260.2(SCN8A):c.2132-11dup
|
|
|
|
NM_001330260.2(SCN8A):c.2132-5T>C
|
|
|
|
NM_001330260.2(SCN8A):c.2132-6C>A
|
rs754118322
|
|
|
NM_001330260.2(SCN8A):c.2132-8_2132-5del
|
rs587780452
|
|
|
NM_001330260.2(SCN8A):c.2163A>G (p.Pro721=)
|
|
|
|
NM_001330260.2(SCN8A):c.216C>T (p.Ile72=)
|
|
|
|
NM_001330260.2(SCN8A):c.2190C>T (p.Phe730=)
|
rs1592142779
|
|
|
NM_001330260.2(SCN8A):c.2211C>G (p.Pro737=)
|
|
|
|
NM_001330260.2(SCN8A):c.2234T>C (p.Ile745Thr)
|
rs1942593819
|
|
|
NM_001330260.2(SCN8A):c.2242T>C (p.Leu748=)
|
rs2138838573
|
|
|
NM_001330260.2(SCN8A):c.2265G>C (p.Val755=)
|
|
|
|
NM_001330260.2(SCN8A):c.2289C>T (p.Ile763=)
|
rs1357051225
|
|
|
NM_001330260.2(SCN8A):c.2301A>C (p.Thr767=)
|
rs1420981704
|
|
|
NM_001330260.2(SCN8A):c.2301A>G (p.Thr767=)
|
|
|
|
NM_001330260.2(SCN8A):c.2302C>T (p.Leu768=)
|
|
|
|
NM_001330260.2(SCN8A):c.2325T>C (p.His775=)
|
rs1060504138
|
|
|
NM_001330260.2(SCN8A):c.2337A>G (p.Pro779=)
|
rs775023944
|
|
|
NM_001330260.2(SCN8A):c.234A>G (p.Ala78=)
|
|
|
|
NM_001330260.2(SCN8A):c.2352C>G (p.Val784=)
|
rs2138838797
|
|
|
NM_001330260.2(SCN8A):c.2370+13A>G
|
|
|
|
NM_001330260.2(SCN8A):c.2370+20C>A
|
|
|
|
NM_001330260.2(SCN8A):c.2371-11C>A
|
rs199751851
|
|
|
NM_001330260.2(SCN8A):c.2371-15C>A
|
|
|
|
NM_001330260.2(SCN8A):c.2371-19C>A
|
|
|
|
NM_001330260.2(SCN8A):c.2371-9C>A
|
rs1942777034
|
|
|
NM_001330260.2(SCN8A):c.241C>T (p.Leu81=)
|
rs1940957150
|
|
|
NM_001330260.2(SCN8A):c.2494C>T (p.Leu832=)
|
rs1592148218
|
|
|
NM_001330260.2(SCN8A):c.249C>T (p.Asp83=)
|
rs2138671497
|
|
|
NM_001330260.2(SCN8A):c.2500C>T (p.Leu834=)
|
rs2138857836
|
|
|
NM_001330260.2(SCN8A):c.2511G>A (p.Val837=)
|
|
|
|
NM_001330260.2(SCN8A):c.2517G>T (p.Gly839=)
|
|
|
|
NM_001330260.2(SCN8A):c.2542T>C (p.Leu848=)
|
rs760438554
|
|
|
NM_001330260.2(SCN8A):c.2544+10A>G
|
|
|
|
NM_001330260.2(SCN8A):c.2544+15T>C
|
rs2138857968
|
|
|
NM_001330260.2(SCN8A):c.2545-12_2545-11insA
|
|
|
|
NM_001330260.2(SCN8A):c.2545-17G>T
|
rs1314952791
|
|
|
NM_001330260.2(SCN8A):c.2545-19_2545-18insC
|
|
|
|
NM_001330260.2(SCN8A):c.2545-5dup
|
rs1942827109
|
|
|
NM_001330260.2(SCN8A):c.2547C>T (p.Leu849=)
|
rs2138862532
|
|
|
NM_001330260.2(SCN8A):c.258A>G (p.Pro86=)
|
|
|
|
NM_001330260.2(SCN8A):c.2592A>C (p.Leu864=)
|
rs1555225792
|
|
|
NM_001330260.2(SCN8A):c.2627G>T (p.Gly876Val)
|
rs1060501010
|
|
|
NM_001330260.2(SCN8A):c.2670C>G (p.Ala890=)
|
rs374452942
|
|
|
NM_001330260.2(SCN8A):c.2709G>A (p.Glu903=)
|
|
|
|
NM_001330260.2(SCN8A):c.270G>A (p.Thr90=)
|
rs371712630
|
|
|
NM_001330260.2(SCN8A):c.2712T>C (p.Cys904=)
|
rs1555225819
|
|
|
NM_001330260.2(SCN8A):c.2715C>G (p.Val905=)
|
|
|
|
NM_001330260.2(SCN8A):c.276+15G>A
|
|
|
|
NM_001330260.2(SCN8A):c.276+4A>T
|
rs1940958406
|
|
|
NM_001330260.2(SCN8A):c.276+9G>T
|
|
|
|
NM_001330260.2(SCN8A):c.277-18C>G
|
|
|
|
NM_001330260.2(SCN8A):c.277-23TC[2]
|
rs765408317
|
|
|
NM_001330260.2(SCN8A):c.277-8C>T
|
rs749517144
|
|
|
NM_001330260.2(SCN8A):c.279C>T (p.Thr93=)
|
rs2138707894
|
|
|
NM_001330260.2(SCN8A):c.285A>G (p.Val95=)
|
|
|
|
NM_001330260.2(SCN8A):c.2880C>T (p.Val960=)
|
|
|
|
NM_001330260.2(SCN8A):c.2901+15G>A
|
rs754580733
|
|
|
NM_001330260.2(SCN8A):c.2901+16T>G
|
|
|
|
NM_001330260.2(SCN8A):c.2902-10A>G
|
|
|
|
NM_001330260.2(SCN8A):c.2902-11dup
|
|
|
|
NM_001330260.2(SCN8A):c.2902-16_2902-15del
|
|
|
|
NM_001330260.2(SCN8A):c.2902-6G>T
|
|
|
|
NM_001330260.2(SCN8A):c.2904G>A (p.Val968=)
|
|
|
|
NM_001330260.2(SCN8A):c.2911C>T (p.Leu971=)
|
rs1942877721
|
|
|
NM_001330260.2(SCN8A):c.2953C>T (p.Leu985=)
|
|
|
|
NM_001330260.2(SCN8A):c.2991C>T (p.Leu997=)
|
rs1195083435
|
|
|
NM_001330260.2(SCN8A):c.3054C>T (p.Phe1018=)
|
|
|
|
NM_001330260.2(SCN8A):c.3060G>A (p.Gln1020=)
|
rs528718802
|
|
|
NM_001330260.2(SCN8A):c.3109T>C (p.Leu1037=)
|
|
|
|
NM_001330260.2(SCN8A):c.3116A>G (p.Glu1039Gly)
|
rs2138868512
|
|
|
NM_001330260.2(SCN8A):c.3144C>T (p.His1048=)
|
rs2138868606
|
|
|
NM_001330260.2(SCN8A):c.3180G>A (p.Gln1060=)
|
|
|
|
NM_001330260.2(SCN8A):c.3185A>G (p.Asn1062Ser)
|
rs1592151546
|
|
|
NM_001330260.2(SCN8A):c.31C>A (p.Pro11Thr)
|
rs1940950511
|
|
|
NM_001330260.2(SCN8A):c.3203G>A (p.Ser1068Asn)
|
rs1592151555
|
|
|
NM_001330260.2(SCN8A):c.3261C>G (p.Ile1087Met)
|
rs2138868887
|
|
|
NM_001330260.2(SCN8A):c.3267C>T (p.Asn1089=)
|
rs761386688
|
|
|
NM_001330260.2(SCN8A):c.3288A>G (p.Val1096=)
|
|
|
|
NM_001330260.2(SCN8A):c.3300G>A (p.Val1100=)
|
|
|
|
NM_001330260.2(SCN8A):c.3306G>A (p.Glu1102=)
|
|
|
|
NM_001330260.2(SCN8A):c.3319A>C (p.Asn1107His)
|
rs1942886955
|
|
|
NM_001330260.2(SCN8A):c.3330A>G (p.Thr1110=)
|
|
|
|
NM_001330260.2(SCN8A):c.3339T>C (p.Val1113=)
|
rs2138869110
|
|
|
NM_001330260.2(SCN8A):c.3372+13C>G
|
|
|
|
NM_001330260.2(SCN8A):c.3372+13C>T
|
|
|
|
NM_001330260.2(SCN8A):c.3372+16A>G
|
|
|
|
NM_001330260.2(SCN8A):c.3373-14C>T
|
|
|
|
NM_001330260.2(SCN8A):c.3373-4C>T
|
|
|
|
NM_001330260.2(SCN8A):c.3387C>A (p.Thr1129=)
|
rs1592152030
|
|
|
NM_001330260.2(SCN8A):c.3408C>T (p.Thr1136=)
|
rs1555226263
|
|
|
NM_001330260.2(SCN8A):c.3432A>G (p.Glu1144=)
|
rs769356208
|
|
|
NM_001330260.2(SCN8A):c.3441T>C (p.Pro1147=)
|
rs2138870285
|
|
|
NM_001330260.2(SCN8A):c.3459A>G (p.Glu1153=)
|
rs1057522632
|
|
|
NM_001330260.2(SCN8A):c.3471A>G (p.Pro1157=)
|
rs368596553
|
|
|
NM_001330260.2(SCN8A):c.3477C>T (p.Ala1159=)
|
rs2138870413
|
|
|
NM_001330260.2(SCN8A):c.3490+17A>G
|
|
|
|
NM_001330260.2(SCN8A):c.3490+19C>T
|
|
|
|
NM_001330260.2(SCN8A):c.3490+6dup
|
rs1942899581
|
|
|
NM_001330260.2(SCN8A):c.3491-11G>A
|
rs745414775
|
|
|
NM_001330260.2(SCN8A):c.3491-11G>T
|
|
|
|
NM_001330260.2(SCN8A):c.3491-20G>A
|
|
|
|
NM_001330260.2(SCN8A):c.3579C>T (p.Leu1193=)
|
|
|
|
NM_001330260.2(SCN8A):c.3594C>T (p.Asn1198=)
|
|
|
|
NM_001330260.2(SCN8A):c.3606C>G (p.Thr1202=)
|
|
|
|
NM_001330260.2(SCN8A):c.3645+10A>G
|
rs1942912454
|
|
|
NM_001330260.2(SCN8A):c.3645+10del
|
rs1942912490
|
|
|
NM_001330260.2(SCN8A):c.3645+18G>A
|
rs375807594
|
|
|
NM_001330260.2(SCN8A):c.3645+8C>G
|
rs768603435
|
|
|
NM_001330260.2(SCN8A):c.3645+8C>T
|
|
|
|
NM_001330260.2(SCN8A):c.3646-11C>T
|
|
|
|
NM_001330260.2(SCN8A):c.3654G>A (p.Glu1218=)
|
|
|
|
NM_001330260.2(SCN8A):c.3669G>A (p.Glu1223=)
|
rs1318771897
|
|
|
NM_001330260.2(SCN8A):c.3681C>G (p.Thr1227=)
|
rs771709180
|
|
|
NM_001330260.2(SCN8A):c.3687C>T (p.Arg1229=)
|
|
|
|
NM_001330260.2(SCN8A):c.36T>C (p.Asp12=)
|
rs1185519570
|
|
|
NM_001330260.2(SCN8A):c.3702T>C (p.Tyr1234=)
|
rs1555226833
|
|
|
NM_001330260.2(SCN8A):c.3703G>A (p.Ala1235Thr)
|
rs1942973895
|
|
|
NM_001330260.2(SCN8A):c.3705T>C (p.Ala1235=)
|
rs954831801
|
|
|
NM_001330260.2(SCN8A):c.3705T>G (p.Ala1235=)
|
|
|
|
NM_001330260.2(SCN8A):c.3729C>T (p.Phe1243=)
|
rs2138879070
|
|
|
NM_001330260.2(SCN8A):c.3783C>G (p.Thr1261=)
|
rs1060504140
|
|
|
NM_001330260.2(SCN8A):c.3799C>T (p.Leu1267=)
|
|
|
|
NM_001330260.2(SCN8A):c.3801G>A (p.Leu1267=)
|
rs1592154970
|
|
|
NM_001330260.2(SCN8A):c.3804C>T (p.Asp1268=)
|
rs2138879208
|
|
|
NM_001330260.2(SCN8A):c.3819+7G>A
|
|
|
|
NM_001330260.2(SCN8A):c.3820-12G>C
|
|
|
|
NM_001330260.2(SCN8A):c.3820-14_3820-13del
|
|
|
|
NM_001330260.2(SCN8A):c.3820-7TG[3]
|
rs2138892590
|
|
|
NM_001330260.2(SCN8A):c.3831C>T (p.Val1277=)
|
|
|
|
NM_001330260.2(SCN8A):c.3834C>T (p.Ser1278=)
|
rs1937892046
|
|
|
NM_001330260.2(SCN8A):c.3849C>T (p.Ala1283=)
|
rs2138892718
|
|
|
NM_001330260.2(SCN8A):c.3888G>A (p.Arg1296=)
|
rs1565923605
|
|
|
NM_001330260.2(SCN8A):c.3918C>T (p.Ala1306=)
|
|
|
|
NM_001330260.2(SCN8A):c.3933A>G (p.Glu1311=)
|
|
|
|
NM_001330260.2(SCN8A):c.3942+11_3942+12delinsTG
|
rs2138892933
|
|
|
NM_001330260.2(SCN8A):c.3942+14del
|
|
|
|
NM_001330260.2(SCN8A):c.3942+8A>G
|
rs1555227596
|
|
|
NM_001330260.2(SCN8A):c.3942+9del
|
rs750135266
|
|
|
NM_001330260.2(SCN8A):c.3943-17C>G
|
rs1057523298
|
|
|
NM_001330260.2(SCN8A):c.3945G>A (p.Val1315=)
|
rs1555228304
|
|
|
NM_001330260.2(SCN8A):c.3948G>A (p.Val1316=)
|
|
|
|
NM_001330260.2(SCN8A):c.395+11C>T
|
|
|
|
NM_001330260.2(SCN8A):c.395+16A>G
|
|
|
|
NM_001330260.2(SCN8A):c.395+17A>T
|
|
|
|
NM_001330260.2(SCN8A):c.395+19_395+37del
|
|
|
|
NM_001330260.2(SCN8A):c.396-19C>T
|
|
|
|
NM_001330260.2(SCN8A):c.396-20G>A
|
|
|
|
NM_001330260.2(SCN8A):c.396-6C>T
|
rs1592379052
|
|
|
NM_001330260.2(SCN8A):c.3969C>T (p.Ala1323=)
|
|
|
|
NM_001330260.2(SCN8A):c.3996G>C (p.Leu1332=)
|
rs2138904116
|
|
|
NM_001330260.2(SCN8A):c.4050G>C (p.Ala1350=)
|
rs1197438038
|
|
|
NM_001330260.2(SCN8A):c.4053A>G (p.Gly1351=)
|
rs2138904231
|
|
|
NM_001330260.2(SCN8A):c.4068C>T (p.Cys1356=)
|
|
|
|
NM_001330260.2(SCN8A):c.4161C>T (p.Ile1387=)
|
|
|
|
NM_001330260.2(SCN8A):c.4173C>T (p.Asn1391=)
|
|
|
|
NM_001330260.2(SCN8A):c.4215C>G (p.Ala1405=)
|
|
|
|
NM_001330260.2(SCN8A):c.4227+11T>C
|
|
|
|
NM_001330260.2(SCN8A):c.4227+8G>A
|
|
|
|
NM_001330260.2(SCN8A):c.4227+9TGTTTT[2]
|
rs1938101173
|
|
|
NM_001330260.2(SCN8A):c.4228-19G>A
|
rs1234868325
|
|
|
NM_001330260.2(SCN8A):c.4228-9G>C
|
rs2138908282
|
|
|
NM_001330260.2(SCN8A):c.4281+11A>G
|
|
|
|
NM_001330260.2(SCN8A):c.4281+14T>C
|
|
|
|
NM_001330260.2(SCN8A):c.4281+17C>A
|
|
|
|
NM_001330260.2(SCN8A):c.4281+17C>T
|
|
|
|
NM_001330260.2(SCN8A):c.4281+9G>A
|
|
|
|
NM_001330260.2(SCN8A):c.4282-10C>G
|
rs369145855
|
|
|
NM_001330260.2(SCN8A):c.4282-10C>T
|
rs369145855
|
|
|
NM_001330260.2(SCN8A):c.4282-14C>A
|
rs1156411784
|
|
|
NM_001330260.2(SCN8A):c.4282-14C>T
|
|
|
|
NM_001330260.2(SCN8A):c.4282-9C>G
|
|
|
|
NM_001330260.2(SCN8A):c.4290G>A (p.Glu1430=)
|
|
|
|
NM_001330260.2(SCN8A):c.4305G>A (p.Glu1435=)
|
rs1938177322
|
|
|
NM_001330260.2(SCN8A):c.4308C>T (p.Asp1436=)
|
|
|
|
NM_001330260.2(SCN8A):c.4311T>C (p.Asn1437=)
|
rs1060504139
|
|
|
NM_001330260.2(SCN8A):c.4314C>T (p.Ile1438=)
|
|
|
|
NM_001330260.2(SCN8A):c.432C>G (p.Thr144=)
|
rs1450876249
|
|
|
NM_001330260.2(SCN8A):c.4338C>T (p.Ile1446=)
|
|
|
|
NM_001330260.2(SCN8A):c.4341C>T (p.Phe1447=)
|
|
|
|
NM_001330260.2(SCN8A):c.4344C>T (p.Ile1448=)
|
rs2138909579
|
|
|
NM_001330260.2(SCN8A):c.4353C>T (p.Gly1451=)
|
|
|
|
NM_001330260.2(SCN8A):c.4383T>C (p.Gly1461=)
|
rs2138909644
|
|
|
NM_001330260.2(SCN8A):c.4398C>T (p.Asn1466=)
|
|
|
|
NM_001330260.2(SCN8A):c.4404T>C (p.Asn1468=)
|
|
|
|
NM_001330260.2(SCN8A):c.4419+15C>T
|
|
|
|
NM_001330260.2(SCN8A):c.4420-9C>T
|
|
|
|
NM_001330260.2(SCN8A):c.4437C>T (p.Ile1479=)
|
|
|
|
NM_001330260.2(SCN8A):c.4494G>A (p.Lys1498=)
|
|
|
|
NM_001330260.2(SCN8A):c.4518C>T (p.Arg1506=)
|
rs765882259
|
|
|
NM_001330260.2(SCN8A):c.4524+13T>A
|
|
|
|
NM_001330260.2(SCN8A):c.4525-12C>T
|
|
|
|
NM_001330260.2(SCN8A):c.4525-14C>T
|
|
|
|
NM_001330260.2(SCN8A):c.4525-3del
|
rs1592167053
|
|
|
NM_001330260.2(SCN8A):c.4525-8del
|
|
|
|
NM_001330260.2(SCN8A):c.4525-9C>T
|
|
|
|
NM_001330260.2(SCN8A):c.4533C>T (p.Ile1511=)
|
|
|
|
NM_001330260.2(SCN8A):c.4557C>T (p.Val1519=)
|
rs1555229490
|
|
|
NM_001330260.2(SCN8A):c.4569C>T (p.Ala1523=)
|
rs2138919081
|
|
|
NM_001330260.2(SCN8A):c.4591C>T (p.Leu1531Phe)
|
rs1592167109
|
|
|
NM_001330260.2(SCN8A):c.4683T>C (p.Phe1561=)
|
|
|
|
NM_001330260.2(SCN8A):c.4695C>T (p.Phe1565=)
|
|
|
|
NM_001330260.2(SCN8A):c.4704G>A (p.Glu1568=)
|
|
|
|
NM_001330260.2(SCN8A):c.4713C>T (p.Leu1571=)
|
|
|
|
NM_001330260.2(SCN8A):c.4722T>C (p.Phe1574=)
|
rs1377093609
|
|
|
NM_001330260.2(SCN8A):c.4742T>A (p.Phe1581Tyr)
|
rs1555229539
|
|
|
NM_001330260.2(SCN8A):c.4752C>T (p.Gly1584=)
|
|
|
|
NM_001330260.2(SCN8A):c.4767C>T (p.Asp1589=)
|
rs1938356938
|
|
|
NM_001330260.2(SCN8A):c.4774G>A (p.Val1592Ile)
|
rs587780454
|
|
|
NM_001330260.2(SCN8A):c.4796-10C>G
|
|
|
|
NM_001330260.2(SCN8A):c.4796-10C>T
|
rs1299909863
|
|
|
NM_001330260.2(SCN8A):c.4796-14_4796-13dup
|
|
|
|
NM_001330260.2(SCN8A):c.4836C>T (p.Ser1612=)
|
rs2138942256
|
|
|
NM_001330260.2(SCN8A):c.4842C>T (p.Thr1614=)
|
rs2138942278
|
|
|
NM_001330260.2(SCN8A):c.485+20G>A
|
|
|
|
NM_001330260.2(SCN8A):c.485+20G>C
|
|
|
|
NM_001330260.2(SCN8A):c.485+8A>G
|
rs750126338
|
|
|
NM_001330260.2(SCN8A):c.486-20G>A
|
rs2138712880
|
|
|
NM_001330260.2(SCN8A):c.4861T>C (p.Leu1621=)
|
rs2138942326
|
|
|
NM_001330260.2(SCN8A):c.4887T>G (p.Arg1629=)
|
rs774981346
|
|
|
NM_001330260.2(SCN8A):c.48T>C (p.Pro16=)
|
|
|
|
NM_001330260.2(SCN8A):c.4930T>C (p.Leu1644=)
|
|
|
|
NM_001330260.2(SCN8A):c.4946C>A (p.Pro1649His)
|
rs1938704227
|
|
|
NM_001330260.2(SCN8A):c.4971G>A (p.Leu1657=)
|
|
|
|
NM_001330260.2(SCN8A):c.4983C>T (p.Val1661=)
|
rs1938705533
|
|
|
NM_001330260.2(SCN8A):c.4989C>T (p.Phe1663=)
|
|
|
|
NM_001330260.2(SCN8A):c.4995C>T (p.Phe1665=)
|
rs1938705785
|
|
|
NM_001330260.2(SCN8A):c.5049T>C (p.Asp1683=)
|
rs2138942744
|
|
|
NM_001330260.2(SCN8A):c.5052C>T (p.Asp1684=)
|
rs2138942754
|
|
|
NM_001330260.2(SCN8A):c.5167C>T (p.Leu1723=)
|
rs1031935135
|
|
|
NM_001330260.2(SCN8A):c.5178A>G (p.Glu1726=)
|
rs2138943092
|
|
|
NM_001330260.2(SCN8A):c.5259T>C (p.Ser1753=)
|
|
|
|
NM_001330260.2(SCN8A):c.5313A>C (p.Val1771=)
|
rs1020683513
|
|
|
NM_001330260.2(SCN8A):c.5313A>G (p.Val1771=)
|
|
|
|
NM_001330260.2(SCN8A):c.531C>A (p.Ile177=)
|
rs2138712970
|
|
|
NM_001330260.2(SCN8A):c.5366A>G (p.Tyr1789Cys)
|
rs961205540
|
|
|
NM_001330260.2(SCN8A):c.5412G>A (p.Glu1804=)
|
|
|
|
NM_001330260.2(SCN8A):c.5421G>A (p.Lys1807=)
|
rs1938717343
|
|
|
NM_001330260.2(SCN8A):c.5445G>A (p.Leu1815=)
|
rs2138943697
|
|
|
NM_001330260.2(SCN8A):c.5463G>T (p.Val1821=)
|
|
|
|
NM_001330260.2(SCN8A):c.5466C>T (p.Pro1822=)
|
rs771214217
|
|
|
NM_001330260.2(SCN8A):c.5589C>T (p.Asp1863=)
|
|
|
|
NM_001330260.2(SCN8A):c.5595G>A (p.Leu1865=)
|
|
|
|
NM_001330260.2(SCN8A):c.5598G>A (p.Arg1866=)
|
rs530351787
|
|
|
NM_001330260.2(SCN8A):c.5621T>G (p.Val1874Gly)
|
rs1938724998
|
|
|
NM_001330260.2(SCN8A):c.5667A>T (p.Thr1889=)
|
|
|
|
NM_001330260.2(SCN8A):c.5682G>A (p.Gln1894=)
|
rs2138944420
|
|
|
NM_001330260.2(SCN8A):c.5718C>T (p.Tyr1906=)
|
|
|
|
NM_001330260.2(SCN8A):c.5721G>A (p.Arg1907=)
|
rs766207565
|
|
|
NM_001330260.2(SCN8A):c.5748C>T (p.Ile1916=)
|
rs1390613897
|
|
|
NM_001330260.2(SCN8A):c.5754A>G (p.Lys1918=)
|
rs1938730493
|
|
|
NM_001330260.2(SCN8A):c.5796G>A (p.Arg1932=)
|
rs2138944763
|
|
|
NM_001330260.2(SCN8A):c.5808G>A (p.Glu1936=)
|
|
|
|
NM_001330260.2(SCN8A):c.5823A>C (p.Thr1941=)
|
|
|
|
NM_001330260.2(SCN8A):c.5832C>T (p.Leu1944=)
|
rs1209111806
|
|
|
NM_001330260.2(SCN8A):c.5896A>C (p.Arg1966=)
|
rs2138945097
|
|
|
NM_001330260.2(SCN8A):c.589T>C (p.Leu197=)
|
rs2138713080
|
|
|
NM_001330260.2(SCN8A):c.5936A>C (p.Lys1979Thr)
|
rs1938739577
|
|
|
NM_001330260.2(SCN8A):c.614+12C>A
|
|
|
|
NM_001330260.2(SCN8A):c.614+13C>T
|
|
|
|
NM_001330260.2(SCN8A):c.615-10C>T
|
rs1381398989
|
|
|
NM_001330260.2(SCN8A):c.615-11C>A
|
|
|
|
NM_001330260.2(SCN8A):c.615-11C>G
|
|
|
|
NM_001330260.2(SCN8A):c.615-142G>T
|
|
|
|
NM_001330260.2(SCN8A):c.615-143G>T
|
rs376385273
|
|
|
NM_001330260.2(SCN8A):c.615-20T>G
|
rs1219551431
|
|
|
NM_001330260.2(SCN8A):c.615-6C>A
|
|
|
|
NM_001330260.2(SCN8A):c.632T>C (p.Val211Ala)
|
rs1592380834
|
|
|
NM_001330260.2(SCN8A):c.651A>G (p.Ser217=)
|
|
|
|
NM_001330260.2(SCN8A):c.669G>T (p.Arg223Ser)
|
rs2138716709
|
|
|
NM_001330260.2(SCN8A):c.672T>C (p.Val224=)
|
rs1941465291
|
|
|
NM_001330260.2(SCN8A):c.676C>T (p.Arg226Ter)
|
|
|
|
NM_001330260.2(SCN8A):c.683T>G (p.Leu228Trp)
|
rs1592380865
|
|
|
NM_001330260.2(SCN8A):c.687A>G (p.Lys229=)
|
|
|
|
NM_001330260.2(SCN8A):c.690T>C (p.Thr230=)
|
|
|
|
NM_001330260.2(SCN8A):c.706+11T>G
|
rs767667849
|
|
|
NM_001330260.2(SCN8A):c.706+13G>T
|
|
|
|
NM_001330260.2(SCN8A):c.706+17A>C
|
rs756313977
|
|
|
NM_001330260.2(SCN8A):c.707-10G>T
|
rs2138735465
|
|
|
NM_001330260.2(SCN8A):c.707-16G>A
|
|
|
|
NM_001330260.2(SCN8A):c.707-17G>A
|
|
|
|
NM_001330260.2(SCN8A):c.707-6C>T
|
|
|
|
NM_001330260.2(SCN8A):c.708C>A (p.Gly236=)
|
rs373002273
|
|
|
NM_001330260.2(SCN8A):c.708C>T (p.Gly236=)
|
|
|
|
NM_001330260.2(SCN8A):c.753G>C (p.Leu251=)
|
|
|
|
NM_001330260.2(SCN8A):c.762G>A (p.Val254=)
|
rs143307190
|
|
|
NM_001330260.2(SCN8A):c.786G>A (p.Leu262=)
|
rs1592387904
|
|
|
NM_001330260.2(SCN8A):c.840G>A (p.Lys280=)
|
|
|
|
NM_001330260.2(SCN8A):c.849G>A (p.Val283=)
|
|
|
|
NM_001330260.2(SCN8A):c.885T>C (p.Asn295=)
|
rs1386653667
|
|
|
NM_001330260.2(SCN8A):c.887G>A (p.Gly296Asp)
|
rs1941653003
|
|
|
NM_001330260.2(SCN8A):c.928+14T>A
|
|
|
|
NM_001330260.2(SCN8A):c.929-13C>G
|
|
|
|
NM_001330260.2(SCN8A):c.929-18C>G
|
|
|
|
NM_001330260.2(SCN8A):c.929-18C>T
|
rs2138738887
|
|
|
NM_001330260.2(SCN8A):c.929-6T>C
|
|
|
|
NM_001330260.2(SCN8A):c.929-9C>T
|
|
|
|
NM_001330260.2(SCN8A):c.929-9del
|
|
|
|
NM_001330260.2(SCN8A):c.948T>C (p.Pro316=)
|
|
|
|
NM_001330260.2(SCN8A):c.992+14C>T
|
|
|
|
NM_001330260.2(SCN8A):c.992+16A>G
|
rs2138739131
|
|
|
NM_001330260.2(SCN8A):c.993-10del
|
|
|
|
NM_001330260.2(SCN8A):c.993-12T>C
|
rs2138742262
|
|
|
NM_001330260.2(SCN8A):c.993-6C>T
|
rs2138742271
|
|
|
NM_001330260.2(SCN8A):c.9G>A (p.Ala3=)
|
rs778177119
|
|
|
NM_001330723.2(SNX27):c.1005T>C (p.Asn335=)
|
|
|
|
NM_001330723.2(SNX27):c.1041A>G (p.Thr347=)
|
rs113299731
|
|
|
NM_001330723.2(SNX27):c.1063T>C (p.Leu355=)
|
|
|
|
NM_001330723.2(SNX27):c.1092A>G (p.Thr364=)
|
rs924761544
|
|
|
NM_001330723.2(SNX27):c.1107C>T (p.Leu369=)
|
rs2102695552
|
|
|
NM_001330723.2(SNX27):c.1119T>C (p.Asn373=)
|
|
|
|
NM_001330723.2(SNX27):c.1122C>T (p.Asp374=)
|
rs1158496817
|
|
|
NM_001330723.2(SNX27):c.1128T>C (p.Ala376=)
|
rs1670318904
|
|
|
NM_001330723.2(SNX27):c.1149+18_1149+20del
|
|
|
|
NM_001330723.2(SNX27):c.1149+20T>A
|
|
|
|
NM_001330723.2(SNX27):c.1150-13G>C
|
|
|
|
NM_001330723.2(SNX27):c.1150-14T>C
|
|
|
|
NM_001330723.2(SNX27):c.1164G>T (p.Val388=)
|
|
|
|
NM_001330723.2(SNX27):c.1167G>A (p.Lys389=)
|
|
|
|
NM_001330723.2(SNX27):c.1170A>G (p.Lys390=)
|
rs916854524
|
|
|
NM_001330723.2(SNX27):c.1176C>T (p.Tyr392=)
|
|
|
|
NM_001330723.2(SNX27):c.1185A>C (p.Ala395=)
|
rs1571868477
|
|
|
NM_001330723.2(SNX27):c.1209G>A (p.Gln403=)
|
|
|
|
NM_001330723.2(SNX27):c.120C>T (p.Gly40=)
|
rs1252759717
|
|
|
NM_001330723.2(SNX27):c.1215A>G (p.Leu405=)
|
rs1217564237
|
|
|
NM_001330723.2(SNX27):c.1221A>G (p.Glu407=)
|
rs1553264889
|
|
|
NM_001330723.2(SNX27):c.1227A>G (p.Arg409=)
|
|
|
|
NM_001330723.2(SNX27):c.1236C>T (p.Val412=)
|
rs1476727417
|
|
|
NM_001330723.2(SNX27):c.1237A>T (p.Met413Leu)
|
rs144336311
|
|
|
NM_001330723.2(SNX27):c.1240-12_1240-11insCTT
|
|
|
|
NM_001330723.2(SNX27):c.1240-13_1240-12insCT
|
rs768575277
|
|
|
NM_001330723.2(SNX27):c.1240-13_1240-3del
|
rs61159507
|
|
|
NM_001330723.2(SNX27):c.1240-14T>C
|
|
|
|
NM_001330723.2(SNX27):c.1240-14_1240-3del
|
|
|
|
NM_001330723.2(SNX27):c.1240-15_1240-3del
|
rs61159507
|
|
|
NM_001330723.2(SNX27):c.1240-16_1240-3del
|
|
|
|
NM_001330723.2(SNX27):c.1240-17_1240-3del
|
|
|
|
NM_001330723.2(SNX27):c.1240-18_1240-3del
|
|
|
|
NM_001330723.2(SNX27):c.1240-19_1240-3del
|
rs61159507
|
|
|
NM_001330723.2(SNX27):c.1240-3_1240-2insCTTT
|
rs2102742377
|
|
|
NM_001330723.2(SNX27):c.1240-3_1240-2insTCTTT
|
rs2102742377
|
|
|
NM_001330723.2(SNX27):c.1240-4_1240-3insCTT
|
rs2102742370
|
|
|
NM_001330723.2(SNX27):c.1240-5_1240-4insCT
|
rs1553266104
|
|
|
NM_001330723.2(SNX27):c.1240-6_1240-5insC
|
rs1398540271
|
|
|
NM_001330723.2(SNX27):c.1252C>T (p.Leu418=)
|
rs1671498343
|
|
|
NM_001330723.2(SNX27):c.1287T>C (p.Phe429=)
|
rs1230597000
|
|
|
NM_001330723.2(SNX27):c.1290C>G (p.Pro430=)
|
|
|
|
NM_001330723.2(SNX27):c.1290C>T (p.Pro430=)
|
rs764241666
|
|
|
NM_001330723.2(SNX27):c.1299C>G (p.Ala433=)
|
rs1571880748
|
|
|
NM_001330723.2(SNX27):c.129C>T (p.Val43=)
|
|
|
|
NM_001330723.2(SNX27):c.1320G>A (p.Gly440=)
|
rs2102742887
|
|
|
NM_001330723.2(SNX27):c.1350C>T (p.His450=)
|
rs2102742993
|
|
|
NM_001330723.2(SNX27):c.1362T>C (p.His454=)
|
|
|
|
NM_001330723.2(SNX27):c.1389+16A>G
|
|
|
|
NM_001330723.2(SNX27):c.1390-12T>C
|
|
|
|
NM_001330723.2(SNX27):c.1390-15G>T
|
|
|
|
NM_001330723.2(SNX27):c.1390-20C>T
|
|
|
|
NM_001330723.2(SNX27):c.141C>T (p.Val47=)
|
rs762600291
|
|
|
NM_001330723.2(SNX27):c.1443A>G (p.Glu481=)
|
|
|
|
NM_001330723.2(SNX27):c.147C>T (p.Ser49=)
|
rs1571741449
|
|
|
NM_001330723.2(SNX27):c.1512G>A (p.Thr504=)
|
|
|
|
NM_001330723.2(SNX27):c.1518+10A>G
|
rs745587168
|
|
|
NM_001330723.2(SNX27):c.1518+13T>C
|
rs2102744187
|
|
|
NM_001330723.2(SNX27):c.1518+14G>A
|
|
|
|
NM_001330723.2(SNX27):c.1518+17G>A
|
|
|
|
NM_001330723.2(SNX27):c.1519-11T>A
|
rs2102745003
|
|
|
NM_001330723.2(SNX27):c.1560G>A (p.Glu520=)
|
|
|
|
NM_001330723.2(SNX27):c.1578+100G>T
|
|
|
|
NM_001330723.2(SNX27):c.1578+11A>G
|
rs2102745179
|
|
|
NM_001330723.2(SNX27):c.1578+12C>T
|
|
|
|
NM_001330723.2(SNX27):c.1578+94A>G
|
|
|
|
NM_001330723.2(SNX27):c.15C>T (p.Asp5=)
|
rs1375319601
|
|
|
NM_001330723.2(SNX27):c.174G>C (p.Arg58=)
|
|
|
|
NM_001330723.2(SNX27):c.219G>A (p.Glu73=)
|
|
|
|
NM_001330723.2(SNX27):c.232C>T (p.Leu78=)
|
|
|
|
NM_001330723.2(SNX27):c.279C>A (p.Ala93=)
|
rs2102579203
|
|
|
NM_001330723.2(SNX27):c.304C>T (p.Leu102=)
|
|
|
|
NM_001330723.2(SNX27):c.306G>C (p.Leu102=)
|
rs2102579271
|
|
|
NM_001330723.2(SNX27):c.311+11G>A
|
|
|
|
NM_001330723.2(SNX27):c.311+13G>A
|
|
|
|
NM_001330723.2(SNX27):c.311+15T>G
|
|
|
|
NM_001330723.2(SNX27):c.311+20G>A
|
|
|
|
NM_001330723.2(SNX27):c.311+20G>C
|
|
|
|
NM_001330723.2(SNX27):c.311+22_311+38dup
|
rs2102579318
|
|
|
NM_001330723.2(SNX27):c.311+9C>T
|
rs2102579294
|
|
|
NM_001330723.2(SNX27):c.312-14C>G
|
|
|
|
NM_001330723.2(SNX27):c.312-16C>G
|
rs2102632909
|
|
|
NM_001330723.2(SNX27):c.312-9T>C
|
|
|
|
NM_001330723.2(SNX27):c.336G>C (p.Ala112=)
|
rs567918235
|
|
|
NM_001330723.2(SNX27):c.33C>T (p.Pro11=)
|
rs2102578177
|
|
|
NM_001330723.2(SNX27):c.351G>C (p.Val117=)
|
|
|
|
NM_001330723.2(SNX27):c.360G>C (p.Leu120=)
|
|
|
|
NM_001330723.2(SNX27):c.364C>A (p.Arg122=)
|
rs2102633073
|
|
|
NM_001330723.2(SNX27):c.369A>G (p.Ala123=)
|
|
|
|
NM_001330723.2(SNX27):c.399A>G (p.Leu133=)
|
rs2102633155
|
|
|
NM_001330723.2(SNX27):c.423T>C (p.Asp141=)
|
rs779863100
|
|
|
NM_001330723.2(SNX27):c.516T>C (p.His172=)
|
|
|
|
NM_001330723.2(SNX27):c.528T>C (p.Asn176=)
|
rs2102633450
|
|
|
NM_001330723.2(SNX27):c.543+16A>G
|
|
|
|
NM_001330723.2(SNX27):c.543+19C>T
|
|
|
|
NM_001330723.2(SNX27):c.543+20G>A
|
rs369005846
|
|
|
NM_001330723.2(SNX27):c.543+20G>T
|
|
|
|
NM_001330723.2(SNX27):c.543+9C>T
|
rs1668607256
|
|
|
NM_001330723.2(SNX27):c.544-14T>C
|
|
|
|
NM_001330723.2(SNX27):c.544-5A>G
|
|
|
|
NM_001330723.2(SNX27):c.552T>C (p.Asn184=)
|
|
|
|
NM_001330723.2(SNX27):c.573G>A (p.Gln191=)
|
|
|
|
NM_001330723.2(SNX27):c.597G>A (p.Glu199=)
|
rs2102676780
|
|
|
NM_001330723.2(SNX27):c.615G>A (p.Gln205=)
|
|
|
|
NM_001330723.2(SNX27):c.618C>T (p.Asn206=)
|
|
|
|
NM_001330723.2(SNX27):c.657C>T (p.Leu219=)
|
|
|
|
NM_001330723.2(SNX27):c.660A>G (p.Pro220=)
|
rs2102676952
|
|
|
NM_001330723.2(SNX27):c.6G>T (p.Ala2=)
|
rs2102578028
|
|
|
NM_001330723.2(SNX27):c.726T>C (p.Tyr242=)
|
|
|
|
NM_001330723.2(SNX27):c.727C>T (p.Leu243=)
|
|
|
|
NM_001330723.2(SNX27):c.72G>A (p.Gly24=)
|
rs1293704681
|
|
|
NM_001330723.2(SNX27):c.737-4A>G
|
|
|
|
NM_001330723.2(SNX27):c.756T>C (p.Ile252=)
|
rs1669930261
|
|
|
NM_001330723.2(SNX27):c.795C>T (p.Ser265=)
|
|
|
|
NM_001330723.2(SNX27):c.802-16A>C
|
rs370297492
|
|
|
NM_001330723.2(SNX27):c.802-16A>G
|
rs370297492
|
|
|
NM_001330723.2(SNX27):c.802-7C>A
|
rs779668822
|
|
|
NM_001330723.2(SNX27):c.816G>A (p.Val272=)
|
rs552371418
|
|
|
NM_001330723.2(SNX27):c.819C>T (p.Ser273=)
|
rs191905305
|
|
|
NM_001330723.2(SNX27):c.81G>A (p.Gly27=)
|
rs948483473
|
|
|
NM_001330723.2(SNX27):c.840A>G (p.Ala280=)
|
|
|
|
NM_001330723.2(SNX27):c.84C>T (p.Leu28=)
|
rs1376598124
|
|
|
NM_001330723.2(SNX27):c.858G>A (p.Thr286=)
|
|
|
|
NM_001330723.2(SNX27):c.858G>T (p.Thr286=)
|
|
|
|
NM_001330723.2(SNX27):c.864A>G (p.Thr288=)
|
|
|
|
NM_001330723.2(SNX27):c.870G>A (p.Arg290=)
|
|
|
|
NM_001330723.2(SNX27):c.87C>T (p.His29=)
|
|
|
|
NM_001330723.2(SNX27):c.906+17C>T
|
|
|
|
NM_001330723.2(SNX27):c.907-16T>C
|
rs369851379
|
|
|
NM_001330723.2(SNX27):c.907-6C>T
|
|
|
|
NM_001330723.2(SNX27):c.933C>T (p.Asp311=)
|
|
|
|
NM_001330723.2(SNX27):c.93C>T (p.Ala31=)
|
|
|
|
NM_001330723.2(SNX27):c.942A>G (p.Thr314=)
|
rs1553261783
|
|
|
NM_001330723.2(SNX27):c.954T>C (p.Phe318=)
|
|
|
|
NM_001330723.2(SNX27):c.975T>C (p.Ser325=)
|
|
|
|
NM_001330723.2(SNX27):c.981C>T (p.Ser327=)
|
|
|
|
NM_001330723.2(SNX27):c.985+15C>G
|
|
|
|
NM_001330723.2(SNX27):c.985+8C>T
|
rs1370392842
|
|
|
NM_001330723.2(SNX27):c.986-13G>A
|
|
|
|
NM_001330723.2(SNX27):c.986-13_986-12del
|
rs2102695222
|
|
|
NM_001330723.2(SNX27):c.99C>T (p.Asn33=)
|
rs1667211610
|
|
|
NM_001353921.2(ARHGEF9):c.1016A>G (p.Tyr339Cys)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1020C>T (p.Gly340=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1029G>A (p.Gln343=)
|
rs2049510920
|
|
|
NM_001353921.2(ARHGEF9):c.1056C>T (p.His352=)
|
rs370689173
|
|
|
NM_001353921.2(ARHGEF9):c.1077+10C>T
|
|
|
|
NM_001353921.2(ARHGEF9):c.1077+18T>C
|
|
|
|
NM_001353921.2(ARHGEF9):c.1077+19T>G
|
rs2147265464
|
|
|
NM_001353921.2(ARHGEF9):c.1077+7C>G
|
rs2147265578
|
|
|
NM_001353921.2(ARHGEF9):c.1078-13C>T
|
|
|
|
NM_001353921.2(ARHGEF9):c.1078-18C>A
|
|
|
|
NM_001353921.2(ARHGEF9):c.1078-18C>T
|
rs781901799
|
|
|
NM_001353921.2(ARHGEF9):c.1095C>T (p.Asp365=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1122C>T (p.Asp374=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1144G>A (p.Asp382Asn)
|
rs2048829340
|
|
|
NM_001353921.2(ARHGEF9):c.1158C>A (p.Gly386=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.117C>G (p.Gly39=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.117C>T (p.Gly39=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1203T>G (p.Leu401=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1206C>T (p.His402=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1233G>A (p.Leu411=)
|
rs2147218180
|
|
|
NM_001353921.2(ARHGEF9):c.1251G>A (p.Leu417=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.126C>T (p.Ile42=)
|
rs2147624145
|
|
|
NM_001353921.2(ARHGEF9):c.1321+18A>G
|
|
|
|
NM_001353921.2(ARHGEF9):c.1322-10T>C
|
rs2147143891
|
|
|
NM_001353921.2(ARHGEF9):c.1390+13C>T
|
|
|
|
NM_001353921.2(ARHGEF9):c.1391-14C>A
|
|
|
|
NM_001353921.2(ARHGEF9):c.1443G>T (p.Pro481=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1470C>T (p.Pro490=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1473C>T (p.Asp491=)
|
rs374753195
|
|
|
NM_001353921.2(ARHGEF9):c.1492G>A (p.Val498Ile)
|
rs2147114206
|
|
|
NM_001353921.2(ARHGEF9):c.1497T>C (p.Phe499=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1551G>A (p.Arg517=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.166C>A (p.Gln56Lys)
|
rs781823638
|
|
|
NM_001353921.2(ARHGEF9):c.174C>T (p.Asp58=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.180G>A (p.Glu60=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.198C>T (p.Ala66=)
|
rs1602577401
|
|
|
NM_001353921.2(ARHGEF9):c.211-13C>A
|
|
|
|
NM_001353921.2(ARHGEF9):c.219G>A (p.Val73=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.234G>A (p.Glu78=)
|
rs868932053
|
|
|
NM_001353921.2(ARHGEF9):c.243G>A (p.Glu81=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.249C>T (p.Pro83=)
|
rs2147508633
|
|
|
NM_001353921.2(ARHGEF9):c.24G>C (p.Ser8=)
|
rs1413001108
|
|
|
NM_001353921.2(ARHGEF9):c.285A>G (p.Ser95=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.30+9A>C
|
rs2147835548
|
|
|
NM_001353921.2(ARHGEF9):c.309A>G (p.Pro103=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.31-29577C>T
|
|
|
|
NM_001353921.2(ARHGEF9):c.31-29579C>T
|
|
|
|
NM_001353921.2(ARHGEF9):c.31-5C>T
|
|
|
|
NM_001353921.2(ARHGEF9):c.31-6C>T
|
|
|
|
NM_001353921.2(ARHGEF9):c.336C>T (p.Ala112=)
|
rs2147507989
|
|
|
NM_001353921.2(ARHGEF9):c.384C>T (p.His128=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.402+15T>C
|
rs2147507524
|
|
|
NM_001353921.2(ARHGEF9):c.402+20T>C
|
|
|
|
NM_001353921.2(ARHGEF9):c.402+8T>C
|
|
|
|
NM_001353921.2(ARHGEF9):c.403-12C>G
|
|
|
|
NM_001353921.2(ARHGEF9):c.403-17T>C
|
|
|
|
NM_001353921.2(ARHGEF9):c.411G>A (p.Leu137=)
|
rs2147451122
|
|
|
NM_001353921.2(ARHGEF9):c.414G>A (p.Lys138=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.503G>A (p.Gly168Asp)
|
|
|
|
NM_001353921.2(ARHGEF9):c.519G>A (p.Leu173=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.564A>G (p.Gly188=)
|
rs782187939
|
|
|
NM_001353921.2(ARHGEF9):c.582+10T>A
|
|
|
|
NM_001353921.2(ARHGEF9):c.582+10_582+14del
|
rs1556388923
|
|
|
NM_001353921.2(ARHGEF9):c.582+18T>C
|
|
|
|
NM_001353921.2(ARHGEF9):c.583-11dup
|
rs782366734
|
|
|
NM_001353921.2(ARHGEF9):c.583-17T>G
|
rs2147334936
|
|
|
NM_001353921.2(ARHGEF9):c.660G>A (p.Lys220=)
|
rs2147334626
|
|
|
NM_001353921.2(ARHGEF9):c.735C>T (p.Phe245=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.747A>G (p.Pro249=)
|
rs369716500
|
|
|
NM_001353921.2(ARHGEF9):c.815+10C>T
|
|
|
|
NM_001353921.2(ARHGEF9):c.815+18T>C
|
|
|
|
NM_001353921.2(ARHGEF9):c.815+8A>G
|
rs1464003224
|
|
|
NM_001353921.2(ARHGEF9):c.815+8A>T
|
rs1464003224
|
|
|
NM_001353921.2(ARHGEF9):c.816-10G>A
|
|
|
|
NM_001353921.2(ARHGEF9):c.816-9T>C
|
rs1057522347
|
|
|
NM_001353921.2(ARHGEF9):c.886C>A (p.Arg296=)
|
rs1135401795
|
|
|
NM_001353921.2(ARHGEF9):c.915T>C (p.Ala305=)
|
rs782362648
|
|
|
NM_001353921.2(ARHGEF9):c.946-13A>C
|
|
|
|
NM_001353921.2(ARHGEF9):c.946-17T>A
|
|
|
|
NM_001353921.2(ARHGEF9):c.946-18A>G
|
|
|
|
NM_001367561.1(DOCK7):c.1035+11T>C
|
|
|
|
NM_001367561.1(DOCK7):c.1047C>G (p.Val349=)
|
rs139793443
|
|
|
NM_001367561.1(DOCK7):c.1048C>T (p.Leu350=)
|
|
|
|
NM_001367561.1(DOCK7):c.1059A>G (p.Gly353=)
|
|
|
|
NM_001367561.1(DOCK7):c.1116+11dup
|
|
|
|
NM_001367561.1(DOCK7):c.1116+14C>T
|
|
|
|
NM_001367561.1(DOCK7):c.1116+20A>G
|
|
|
|
NM_001367561.1(DOCK7):c.1117-17A>T
|
|
|
|
NM_001367561.1(DOCK7):c.1117-19A>G
|
|
|
|
NM_001367561.1(DOCK7):c.1249A>C (p.Arg417=)
|
|
|
|
NM_001367561.1(DOCK7):c.1282+17C>A
|
|
|
|
NM_001367561.1(DOCK7):c.1282+18A>G
|
|
|
|
NM_001367561.1(DOCK7):c.1282+7G>A
|
rs752203410
|
|
|
NM_001367561.1(DOCK7):c.1283-6T>C
|
|
|
|
NM_001367561.1(DOCK7):c.1285C>A (p.Arg429=)
|
|
|
|
NM_001367561.1(DOCK7):c.1332A>G (p.Arg444=)
|
|
|
|
NM_001367561.1(DOCK7):c.1344A>G (p.Glu448=)
|
|
|
|
NM_001367561.1(DOCK7):c.1365T>C (p.Asp455=)
|
|
|
|
NM_001367561.1(DOCK7):c.1410A>C (p.Thr470=)
|
|
|
|
NM_001367561.1(DOCK7):c.1425+20G>A
|
|
|
|
NM_001367561.1(DOCK7):c.1426-10T>C
|
|
|
|
NM_001367561.1(DOCK7):c.1426-4T>C
|
|
|
|
NM_001367561.1(DOCK7):c.144+11del
|
|
|
|
NM_001367561.1(DOCK7):c.145-5C>T
|
|
|
|
NM_001367561.1(DOCK7):c.1477A>C (p.Arg493=)
|
|
|
|
NM_001367561.1(DOCK7):c.1482G>A (p.Arg494=)
|
|
|
|
NM_001367561.1(DOCK7):c.1519+10A>C
|
rs1159885351
|
|
|
NM_001367561.1(DOCK7):c.1520-16A>G
|
|
|
|
NM_001367561.1(DOCK7):c.1533A>T (p.Ile511=)
|
rs2149586281
|
|
|
NM_001367561.1(DOCK7):c.153T>C (p.Leu51=)
|
|
|
|
NM_001367561.1(DOCK7):c.1551T>C (p.Pro517=)
|
rs2149586223
|
|
|
NM_001367561.1(DOCK7):c.1560C>G (p.Pro520=)
|
|
|
|
NM_001367561.1(DOCK7):c.1569C>T (p.Cys523=)
|
rs2149586149
|
|
|
NM_001367561.1(DOCK7):c.1578G>A (p.Pro526=)
|
|
|
|
NM_001367561.1(DOCK7):c.1612A>C (p.Arg538=)
|
rs2149586026
|
|
|
NM_001367561.1(DOCK7):c.1623T>C (p.Pro541=)
|
|
|
|
NM_001367561.1(DOCK7):c.1626C>T (p.Thr542=)
|
|
|
|
NM_001367561.1(DOCK7):c.1641G>A (p.Glu547=)
|
rs1652768519
|
|
|
NM_001367561.1(DOCK7):c.1647C>G (p.Pro549=)
|
rs999735157
|
|
|
NM_001367561.1(DOCK7):c.1653G>A (p.Arg551=)
|
|
|
|
NM_001367561.1(DOCK7):c.165A>G (p.Val55=)
|
rs2149694739
|
|
|
NM_001367561.1(DOCK7):c.1682+11T>C
|
|
|
|
NM_001367561.1(DOCK7):c.1682+15T>G
|
|
|
|
NM_001367561.1(DOCK7):c.1683-12T>C
|
|
|
|
NM_001367561.1(DOCK7):c.1683-15660C>G
|
rs1177976784
|
|
|
NM_001367561.1(DOCK7):c.171A>C (p.Pro57=)
|
|
|
|
NM_001367561.1(DOCK7):c.1737T>C (p.Ser579=)
|
rs2149499155
|
|
|
NM_001367561.1(DOCK7):c.1752A>G (p.Thr584=)
|
|
|
|
NM_001367561.1(DOCK7):c.1773T>C (p.Tyr591=)
|
|
|
|
NM_001367561.1(DOCK7):c.1800+13C>A
|
|
|
|
NM_001367561.1(DOCK7):c.1800+14T>C
|
|
|
|
NM_001367561.1(DOCK7):c.1800+7A>G
|
rs2149499008
|
|
|
NM_001367561.1(DOCK7):c.1800+8A>G
|
|
|
|
NM_001367561.1(DOCK7):c.1801-11A>T
|
rs1647192042
|
|
|
NM_001367561.1(DOCK7):c.1851A>T (p.Thr617=)
|
|
|
|
NM_001367561.1(DOCK7):c.1854C>G (p.Ala618=)
|
|
|
|
NM_001367561.1(DOCK7):c.1854C>T (p.Ala618=)
|
rs779334367
|
|
|
NM_001367561.1(DOCK7):c.1871+14A>G
|
|
|
|
NM_001367561.1(DOCK7):c.1871+16A>G
|
|
|
|
NM_001367561.1(DOCK7):c.1872-10T>C
|
|
|
|
NM_001367561.1(DOCK7):c.1872-12T>G
|
|
|
|
NM_001367561.1(DOCK7):c.1872-8G>A
|
rs79716948
|
|
|
NM_001367561.1(DOCK7):c.1872-8G>T
|
rs79716948
|
|
|
NM_001367561.1(DOCK7):c.1905G>A (p.Lys635=)
|
|
|
|
NM_001367561.1(DOCK7):c.1914T>C (p.Ala638=)
|
rs1647024509
|
|
|
NM_001367561.1(DOCK7):c.1986T>C (p.Pro662=)
|
|
|
|
NM_001367561.1(DOCK7):c.2010+11T>A
|
rs746471620
|
|
|
NM_001367561.1(DOCK7):c.2010+14G>A
|
|
|
|
NM_001367561.1(DOCK7):c.2010+14G>C
|
|
|
|
NM_001367561.1(DOCK7):c.2011-13T>G
|
|
|
|
NM_001367561.1(DOCK7):c.2011-15C>G
|
|
|
|
NM_001367561.1(DOCK7):c.2011-17T>G
|
|
|
|
NM_001367561.1(DOCK7):c.2049C>A (p.Gly683=)
|
rs772818546
|
|
|
NM_001367561.1(DOCK7):c.204T>C (p.Pro68=)
|
rs769677434
|
|
|
NM_001367561.1(DOCK7):c.205T>C (p.Leu69=)
|
|
|
|
NM_001367561.1(DOCK7):c.2100A>C (p.Val700=)
|
rs2149480909
|
|
|
NM_001367561.1(DOCK7):c.2112+13C>T
|
rs908615690
|
|
|
NM_001367561.1(DOCK7):c.2112+14A>G
|
rs2149480868
|
|
|
NM_001367561.1(DOCK7):c.2112+16G>A
|
|
|
|
NM_001367561.1(DOCK7):c.2113-22_2113-15del
|
|
|
|
NM_001367561.1(DOCK7):c.2113-7C>T
|
|
|
|
NM_001367561.1(DOCK7):c.2113-8T>C
|
|
|
|
NM_001367561.1(DOCK7):c.2127C>T (p.Gly709=)
|
|
|
|
NM_001367561.1(DOCK7):c.2166T>G (p.Val722=)
|
rs1646326192
|
|
|
NM_001367561.1(DOCK7):c.2196A>C (p.Thr732=)
|
rs202233124
|
|
|
NM_001367561.1(DOCK7):c.2199+11A>G
|
rs2149444137
|
|
|
NM_001367561.1(DOCK7):c.2199+12T>C
|
|
|
|
NM_001367561.1(DOCK7):c.2199+17_2199+19del
|
|
|
|
NM_001367561.1(DOCK7):c.2200-11C>A
|
|
|
|
NM_001367561.1(DOCK7):c.2200-12T>A
|
|
|
|
NM_001367561.1(DOCK7):c.2200-18G>T
|
|
|
|
NM_001367561.1(DOCK7):c.2238T>G (p.Ala746=)
|
|
|
|
NM_001367561.1(DOCK7):c.225T>C (p.Pro75=)
|
rs2149694583
|
|
|
NM_001367561.1(DOCK7):c.229C>A (p.Arg77=)
|
rs373435369
|
|
|
NM_001367561.1(DOCK7):c.2308T>C (p.Leu770=)
|
|
|
|
NM_001367561.1(DOCK7):c.231G>A (p.Arg77=)
|
rs758704752
|
|
|
NM_001367561.1(DOCK7):c.2325A>C (p.Ser775=)
|
rs1460069912
|
|
|
NM_001367561.1(DOCK7):c.2337A>G (p.Ser779=)
|
|
|
|
NM_001367561.1(DOCK7):c.2349A>G (p.Glu783=)
|
rs2149439294
|
|
|
NM_001367561.1(DOCK7):c.2412T>C (p.Pro804=)
|
|
|
|
NM_001367561.1(DOCK7):c.2412T>G (p.Pro804=)
|
rs1452889491
|
|
|
NM_001367561.1(DOCK7):c.2431+12T>C
|
|
|
|
NM_001367561.1(DOCK7):c.2431+13_2431+17del
|
|
|
|
NM_001367561.1(DOCK7):c.2431+9C>G
|
|
|
|
NM_001367561.1(DOCK7):c.2432-14T>C
|
|
|
|
NM_001367561.1(DOCK7):c.2432-15C>A
|
|
|
|
NM_001367561.1(DOCK7):c.2448A>G (p.Ala816=)
|
rs2149432990
|
|
|
NM_001367561.1(DOCK7):c.2457A>G (p.Glu819=)
|
|
|
|
NM_001367561.1(DOCK7):c.246T>C (p.Phe82=)
|
rs1657693489
|
|
|
NM_001367561.1(DOCK7):c.2541A>G (p.Ser847=)
|
|
|
|
NM_001367561.1(DOCK7):c.2541A>T (p.Ser847=)
|
|
|
|
NM_001367561.1(DOCK7):c.2577C>T (p.Tyr859=)
|
|
|
|
NM_001367561.1(DOCK7):c.2586A>G (p.Ser862=)
|
|
|
|
NM_001367561.1(DOCK7):c.2589A>G (p.Ser863=)
|
|
|
|
NM_001367561.1(DOCK7):c.2596+13T>G
|
|
|
|
NM_001367561.1(DOCK7):c.2596+19T>C
|
rs2149432485
|
|
|
NM_001367561.1(DOCK7):c.2597-12A>T
|
rs573812877
|
|
|
NM_001367561.1(DOCK7):c.2598T>A (p.Gly866=)
|
|
|
|
NM_001367561.1(DOCK7):c.2724C>T (p.Pro908=)
|
|
|
|
NM_001367561.1(DOCK7):c.2727G>A (p.Thr909=)
|
rs747963484
|
|
|
NM_001367561.1(DOCK7):c.2727G>T (p.Thr909=)
|
|
|
|
NM_001367561.1(DOCK7):c.2736T>C (p.Asp912=)
|
rs1310776858
|
|
|
NM_001367561.1(DOCK7):c.273T>C (p.Tyr91=)
|
rs1243234202
|
|
|
NM_001367561.1(DOCK7):c.2760G>T (p.Gly920=)
|
rs139010379
|
|
|
NM_001367561.1(DOCK7):c.2767-12T>C
|
|
|
|
NM_001367561.1(DOCK7):c.2767-13A>G
|
|
|
|
NM_001367561.1(DOCK7):c.2767-18T>C
|
|
|
|
NM_001367561.1(DOCK7):c.2784T>C (p.Asn928=)
|
rs2149404276
|
|
|
NM_001367561.1(DOCK7):c.279T>C (p.Pro93=)
|
rs2149694416
|
|
|
NM_001367561.1(DOCK7):c.27G>A (p.Gln9=)
|
|
|
|
NM_001367561.1(DOCK7):c.2829C>T (p.Ser943=)
|
|
|
|
NM_001367561.1(DOCK7):c.2860-15A>G
|
|
|
|
NM_001367561.1(DOCK7):c.2860-15A>T
|
|
|
|
NM_001367561.1(DOCK7):c.2860-20C>G
|
|
|
|
NM_001367561.1(DOCK7):c.2874T>C (p.Ser958=)
|
rs1408259454
|
|
|
NM_001367561.1(DOCK7):c.288C>T (p.Cys96=)
|
|
|
|
NM_001367561.1(DOCK7):c.2928G>A (p.Thr976=)
|
|
|
|
NM_001367561.1(DOCK7):c.2949+10T>C
|
|
|
|
NM_001367561.1(DOCK7):c.2949+11A>G
|
|
|
|
NM_001367561.1(DOCK7):c.2949+14A>G
|
|
|
|
NM_001367561.1(DOCK7):c.2949+20A>G
|
|
|
|
NM_001367561.1(DOCK7):c.2949+9A>G
|
rs2149401665
|
|
|
NM_001367561.1(DOCK7):c.2950-4A>G
|
|
|
|
NM_001367561.1(DOCK7):c.2961G>A (p.Glu987=)
|
|
|
|
NM_001367561.1(DOCK7):c.2970T>G (p.Ala990=)
|
|
|
|
NM_001367561.1(DOCK7):c.2976G>A (p.Gln992=)
|
rs1330608775
|
|
|
NM_001367561.1(DOCK7):c.297T>C (p.Leu99=)
|
rs763755831
|
|
|
NM_001367561.1(DOCK7):c.2997C>T (p.Ser999=)
|
|
|
|
NM_001367561.1(DOCK7):c.3006A>G (p.Glu1002=)
|
rs774275274
|
|
|
NM_001367561.1(DOCK7):c.3024C>T (p.Ala1008=)
|
rs1645573078
|
|
|
NM_001367561.1(DOCK7):c.3042A>G (p.Leu1014=)
|
|
|
|
NM_001367561.1(DOCK7):c.3045+11A>G
|
|
|
|
NM_001367561.1(DOCK7):c.3045+13T>C
|
|
|
|
NM_001367561.1(DOCK7):c.3045+16G>A
|
|
|
|
NM_001367561.1(DOCK7):c.3046-13A>G
|
|
|
|
NM_001367561.1(DOCK7):c.3046-15A>G
|
|
|
|
NM_001367561.1(DOCK7):c.3046-16T>C
|
rs767831092
|
|
|
NM_001367561.1(DOCK7):c.3046-16T>G
|
|
|
|
NM_001367561.1(DOCK7):c.3046-20A>C
|
rs2149394019
|
|
|
NM_001367561.1(DOCK7):c.3046-4del
|
|
|
|
NM_001367561.1(DOCK7):c.3046-8T>A
|
rs774596625
|
|
|
NM_001367561.1(DOCK7):c.3051G>A (p.Lys1017=)
|
|
|
|
NM_001367561.1(DOCK7):c.3063C>T (p.His1021=)
|
|
|
|
NM_001367561.1(DOCK7):c.3111T>C (p.Phe1037=)
|
|
|
|
NM_001367561.1(DOCK7):c.3186+9A>G
|
|
|
|
NM_001367561.1(DOCK7):c.3187-10T>G
|
|
|
|
NM_001367561.1(DOCK7):c.320+17_320+18del
|
rs2149694206
|
|
|
NM_001367561.1(DOCK7):c.3201T>C (p.Val1067=)
|
rs375560233
|
|
|
NM_001367561.1(DOCK7):c.3210C>G (p.Leu1070=)
|
rs2149393365
|
|
|
NM_001367561.1(DOCK7):c.3234C>T (p.Leu1078=)
|
|
|
|
NM_001367561.1(DOCK7):c.3300+10A>G
|
|
|
|
NM_001367561.1(DOCK7):c.3300+11G>A
|
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|
|
NM_001367561.1(DOCK7):c.3300+16G>A
|
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|
NM_001367561.1(DOCK7):c.3301-16dup
|
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|
|
NM_001367561.1(DOCK7):c.3301-4C>T
|
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|
NM_001367561.1(DOCK7):c.3301-7T>C
|
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|
|
NM_001367561.1(DOCK7):c.3312G>A (p.Lys1104=)
|
rs1002333745
|
|
|
NM_001367561.1(DOCK7):c.333A>G (p.Pro111=)
|
rs1204909491
|
|
|
NM_001367561.1(DOCK7):c.3360T>C (p.Asp1120=)
|
rs2149390192
|
|
|
NM_001367561.1(DOCK7):c.3366A>G (p.Leu1122=)
|
|
|
|
NM_001367561.1(DOCK7):c.3384T>C (p.His1128=)
|
rs745834277
|
|
|
NM_001367561.1(DOCK7):c.3399A>G (p.Thr1133=)
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|
|
NM_001367561.1(DOCK7):c.3465A>T (p.Thr1155=)
|
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|
|
NM_001367561.1(DOCK7):c.3471+18A>C
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|
NM_001367561.1(DOCK7):c.3472-17G>A
|
rs1645321252
|
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|
NM_001367561.1(DOCK7):c.3477T>C (p.Ser1159=)
|
rs2149385727
|
|
|
NM_001367561.1(DOCK7):c.3486T>G (p.Ser1162=)
|
|
|
|
NM_001367561.1(DOCK7):c.3504A>G (p.Gln1168=)
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|
NM_001367561.1(DOCK7):c.3537T>G (p.Pro1179=)
|
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|
|
NM_001367561.1(DOCK7):c.3558G>A (p.Leu1186=)
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|
NM_001367561.1(DOCK7):c.3591T>C (p.Ile1197=)
|
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|
|
NM_001367561.1(DOCK7):c.3597C>T (p.Asp1199=)
|
rs747030545
|
|
|
NM_001367561.1(DOCK7):c.3611+12A>G
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NM_001367561.1(DOCK7):c.3611+19A>G
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NM_001367561.1(DOCK7):c.3612-18C>A
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NM_001367561.1(DOCK7):c.3612-18C>T
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|
NM_001367561.1(DOCK7):c.3612-18CTT[2]
|
rs748590922
|
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|
NM_001367561.1(DOCK7):c.3612-20G>A
|
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|
NM_001367561.1(DOCK7):c.3612-6A>G
|
rs2149373205
|
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|
NM_001367561.1(DOCK7):c.3613C>T (p.Leu1205=)
|
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|
NM_001367561.1(DOCK7):c.3615G>T (p.Leu1205=)
|
rs1360793354
|
|
|
NM_001367561.1(DOCK7):c.363A>G (p.Thr121=)
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|
NM_001367561.1(DOCK7):c.3696T>C (p.Pro1232=)
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NM_001367561.1(DOCK7):c.3782-12A>G
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NM_001367561.1(DOCK7):c.3782-16G>T
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NM_001367561.1(DOCK7):c.3782-4T>C
|
rs2149370719
|
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NM_001367561.1(DOCK7):c.3783A>G (p.Glu1261=)
|
rs1413622786
|
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|
NM_001367561.1(DOCK7):c.3786T>C (p.Thr1262=)
|
rs1240699111
|
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|
NM_001367561.1(DOCK7):c.378T>A (p.Ile126=)
|
rs2149693568
|
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|
NM_001367561.1(DOCK7):c.38+10C>T
|
rs1309604372
|
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|
NM_001367561.1(DOCK7):c.38+11G>A
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NM_001367561.1(DOCK7):c.38+12G>A
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NM_001367561.1(DOCK7):c.38+8T>G
|
rs1227359566
|
|
|
NM_001367561.1(DOCK7):c.3807A>G (p.Pro1269=)
|
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|
NM_001367561.1(DOCK7):c.384C>A (p.Ile128=)
|
rs749517551
|
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|
NM_001367561.1(DOCK7):c.3864C>G (p.Thr1288=)
|
rs138239872
|
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|
NM_001367561.1(DOCK7):c.3864C>T (p.Thr1288=)
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NM_001367561.1(DOCK7):c.389+10A>G
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NM_001367561.1(DOCK7):c.389+12G>A
|
rs2149693516
|
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NM_001367561.1(DOCK7):c.389+15T>C
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NM_001367561.1(DOCK7):c.389+16A>G
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NM_001367561.1(DOCK7):c.389+20C>G
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NM_001367561.1(DOCK7):c.390-20T>A
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|
NM_001367561.1(DOCK7):c.390-20_390-19insTC
|
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|
NM_001367561.1(DOCK7):c.390-9C>G
|
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NM_001367561.1(DOCK7):c.390A>G (p.Lys130=)
|
rs550800563
|
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|
NM_001367561.1(DOCK7):c.3936+10A>G
|
rs1276772503
|
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|
NM_001367561.1(DOCK7):c.3936+17T>A
|
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|
NM_001367561.1(DOCK7):c.3937-15G>C
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NM_001367561.1(DOCK7):c.3937-8A>G
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|
NM_001367561.1(DOCK7):c.3960T>C (p.Phe1320=)
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|
NM_001367561.1(DOCK7):c.4017A>C (p.Ala1339=)
|
rs1271412362
|
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NM_001367561.1(DOCK7):c.4065G>A (p.Gln1355=)
|
rs952306965
|
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|
NM_001367561.1(DOCK7):c.4075C>T (p.Leu1359=)
|
rs780595603
|
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|
NM_001367561.1(DOCK7):c.4092T>C (p.Tyr1364=)
|
rs751271623
|
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|
NM_001367561.1(DOCK7):c.4101G>A (p.Val1367=)
|
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|
NM_001367561.1(DOCK7):c.4119+15T>G
|
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NM_001367561.1(DOCK7):c.4119+17C>A
|
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NM_001367561.1(DOCK7):c.4120-10T>C
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NM_001367561.1(DOCK7):c.4120-12T>G
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|
NM_001367561.1(DOCK7):c.4120-16A>G
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|
NM_001367561.1(DOCK7):c.4120-4T>C
|
rs764863064
|
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|
NM_001367561.1(DOCK7):c.4188T>G (p.Leu1396=)
|
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|
NM_001367561.1(DOCK7):c.4264A>C (p.Thr1422Pro)
|
rs1644561120
|
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|
NM_001367561.1(DOCK7):c.4270G>C (p.Ala1424Pro)
|
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|
NM_001367561.1(DOCK7):c.4274C>T (p.Ser1425Phe)
|
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|
NM_001367561.1(DOCK7):c.4283-16G>A
|
rs755597863
|
|
|
NM_001367561.1(DOCK7):c.4293A>G (p.Pro1431=)
|
|
|
|
NM_001367561.1(DOCK7):c.4341T>C (p.Asp1447=)
|
rs1571343839
|
|
|
NM_001367561.1(DOCK7):c.4365A>G (p.Thr1455=)
|
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|
|
NM_001367561.1(DOCK7):c.4379+9G>A
|
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|
NM_001367561.1(DOCK7):c.4380-12_4380-4del
|
rs773057749
|
|
|
NM_001367561.1(DOCK7):c.4380-15A>C
|
|
|
|
NM_001367561.1(DOCK7):c.4386A>G (p.Arg1462=)
|
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|
|
NM_001367561.1(DOCK7):c.441A>G (p.Lys147=)
|
rs2149679924
|
|
|
NM_001367561.1(DOCK7):c.4428T>C (p.Ala1476=)
|
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|
NM_001367561.1(DOCK7):c.4458A>G (p.Thr1486=)
|
rs778516272
|
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|
NM_001367561.1(DOCK7):c.4458A>T (p.Thr1486=)
|
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|
|
NM_001367561.1(DOCK7):c.4470T>G (p.Val1490=)
|
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|
NM_001367561.1(DOCK7):c.4476+9G>A
|
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|
NM_001367561.1(DOCK7):c.4477-15A>G
|
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|
NM_001367561.1(DOCK7):c.4479C>T (p.Thr1493=)
|
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|
|
NM_001367561.1(DOCK7):c.447G>A (p.Arg149=)
|
rs989728015
|
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|
NM_001367561.1(DOCK7):c.4491G>C (p.Thr1497=)
|
rs373928701
|
|
|
NM_001367561.1(DOCK7):c.4560T>C (p.Ser1520=)
|
|
|
|
NM_001367561.1(DOCK7):c.4569T>C (p.Tyr1523=)
|
|
|
|
NM_001367561.1(DOCK7):c.4572A>G (p.Leu1524=)
|
rs535372870
|
|
|
NM_001367561.1(DOCK7):c.4611+17C>T
|
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|
|
NM_001367561.1(DOCK7):c.4617T>C (p.Pro1539=)
|
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|
|
NM_001367561.1(DOCK7):c.4623C>G (p.Leu1541=)
|
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|
|
NM_001367561.1(DOCK7):c.4647G>A (p.Gln1549=)
|
rs2149321033
|
|
|
NM_001367561.1(DOCK7):c.4686C>T (p.Ser1562=)
|
|
|
|
NM_001367561.1(DOCK7):c.4695C>T (p.Ile1565=)
|
|
|
|
NM_001367561.1(DOCK7):c.4722C>T (p.Ala1574=)
|
|
|
|
NM_001367561.1(DOCK7):c.4764+15A>T
|
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|
|
NM_001367561.1(DOCK7):c.4764+7A>G
|
|
|
|
NM_001367561.1(DOCK7):c.4776G>A (p.Arg1592=)
|
|
|
|
NM_001367561.1(DOCK7):c.4782A>G (p.Lys1594=)
|
|
|
|
NM_001367561.1(DOCK7):c.4800A>G (p.Ser1600=)
|
rs757952503
|
|
|
NM_001367561.1(DOCK7):c.4803A>G (p.Leu1601=)
|
|
|
|
NM_001367561.1(DOCK7):c.4872G>A (p.Leu1624=)
|
rs2149303248
|
|
|
NM_001367561.1(DOCK7):c.4897T>C (p.Leu1633=)
|
rs781439717
|
|
|
NM_001367561.1(DOCK7):c.48A>C (p.Ala16=)
|
|
|
|
NM_001367561.1(DOCK7):c.4923+11C>G
|
|
|
|
NM_001367561.1(DOCK7):c.4923+12T>G
|
|
|
|
NM_001367561.1(DOCK7):c.4923+9T>C
|
rs2149303126
|
|
|
NM_001367561.1(DOCK7):c.4924-11C>G
|
|
|
|
NM_001367561.1(DOCK7):c.4924-17A>T
|
rs1266749139
|
|
|
NM_001367561.1(DOCK7):c.4924-18T>C
|
|
|
|
NM_001367561.1(DOCK7):c.4924-5T>C
|
|
|
|
NM_001367561.1(DOCK7):c.4924-9C>T
|
rs2149301836
|
|
|
NM_001367561.1(DOCK7):c.4947C>T (p.Leu1649=)
|
rs892631582
|
|
|
NM_001367561.1(DOCK7):c.4965T>C (p.Asp1655=)
|
|
|
|
NM_001367561.1(DOCK7):c.4968T>C (p.Thr1656=)
|
rs1031152443
|
|
|
NM_001367561.1(DOCK7):c.5010T>C (p.Ile1670=)
|
rs2149301697
|
|
|
NM_001367561.1(DOCK7):c.5024+19A>G
|
|
|
|
NM_001367561.1(DOCK7):c.5025-11G>A
|
rs772520151
|
|
|
NM_001367561.1(DOCK7):c.5025-19G>T
|
|
|
|
NM_001367561.1(DOCK7):c.5046C>T (p.Thr1682=)
|
rs368010913
|
|
|
NM_001367561.1(DOCK7):c.5052A>T (p.Pro1684=)
|
rs1646559422
|
|
|
NM_001367561.1(DOCK7):c.507C>T (p.Tyr169=)
|
rs917139521
|
|
|
NM_001367561.1(DOCK7):c.5085A>G (p.Ala1695=)
|
rs367764603
|
|
|
NM_001367561.1(DOCK7):c.5124A>G (p.Ala1708=)
|
rs995054926
|
|
|
NM_001367561.1(DOCK7):c.5133A>G (p.Leu1711=)
|
rs1646556940
|
|
|
NM_001367561.1(DOCK7):c.5184G>C (p.Arg1728=)
|
|
|
|
NM_001367561.1(DOCK7):c.519+10T>C
|
rs2149679670
|
|
|
NM_001367561.1(DOCK7):c.519+15C>T
|
|
|
|
NM_001367561.1(DOCK7):c.51C>T (p.Ala17=)
|
|
|
|
NM_001367561.1(DOCK7):c.520-14G>A
|
|
|
|
NM_001367561.1(DOCK7):c.520-22_520-17del
|
|
|
|
NM_001367561.1(DOCK7):c.520-7A>G
|
|
|
|
NM_001367561.1(DOCK7):c.5205T>C (p.Cys1735=)
|
|
|
|
NM_001367561.1(DOCK7):c.5217+12C>A
|
|
|
|
NM_001367561.1(DOCK7):c.5217+12C>G
|
|
|
|
NM_001367561.1(DOCK7):c.5217+17T>C
|
|
|
|
NM_001367561.1(DOCK7):c.5218-13A>G
|
|
|
|
NM_001367561.1(DOCK7):c.5218-14T>A
|
rs1646506232
|
|
|
NM_001367561.1(DOCK7):c.5218-4C>A
|
rs2149295058
|
|
|
NM_001367561.1(DOCK7):c.5235T>G (p.Val1745=)
|
rs1250742331
|
|
|
NM_001367561.1(DOCK7):c.5253C>G (p.Val1751=)
|
|
|
|
NM_001367561.1(DOCK7):c.5280A>G (p.Glu1760=)
|
|
|
|
NM_001367561.1(DOCK7):c.5328A>C (p.Gly1776=)
|
|
|
|
NM_001367561.1(DOCK7):c.5340A>G (p.Gln1780=)
|
|
|
|
NM_001367561.1(DOCK7):c.5343A>C (p.Ala1781=)
|
rs1646502495
|
|
|
NM_001367561.1(DOCK7):c.5346T>G (p.Ala1782=)
|
|
|
|
NM_001367561.1(DOCK7):c.5361+14_5361+19dup
|
|
|
|
NM_001367561.1(DOCK7):c.5362-10T>G
|
|
|
|
NM_001367561.1(DOCK7):c.5362-13T>C
|
|
|
|
NM_001367561.1(DOCK7):c.5362-14A>T
|
|
|
|
NM_001367561.1(DOCK7):c.5362-18_5362-16del
|
|
|
|
NM_001367561.1(DOCK7):c.5362-5T>G
|
|
|
|
NM_001367561.1(DOCK7):c.5379A>C (p.Ala1793=)
|
|
|
|
NM_001367561.1(DOCK7):c.5388A>G (p.Glu1796=)
|
rs759210411
|
|
|
NM_001367561.1(DOCK7):c.5439A>G (p.Lys1813=)
|
rs1419811907
|
|
|
NM_001367561.1(DOCK7):c.5445C>T (p.Ser1815=)
|
rs1571266544
|
|
|
NM_001367561.1(DOCK7):c.546A>C (p.Ser182=)
|
|
|
|
NM_001367561.1(DOCK7):c.5472A>G (p.Ala1824=)
|
|
|
|
NM_001367561.1(DOCK7):c.5493+13A>G
|
|
|
|
NM_001367561.1(DOCK7):c.5509-25A>G
|
|
|
|
NM_001367561.1(DOCK7):c.5523C>A (p.Thr1841=)
|
|
|
|
NM_001367561.1(DOCK7):c.5553G>A (p.Lys1851=)
|
|
|
|
NM_001367561.1(DOCK7):c.5556C>T (p.Phe1852=)
|
|
|
|
NM_001367561.1(DOCK7):c.5631G>A (p.Leu1877=)
|
|
|
|
NM_001367561.1(DOCK7):c.5634+16G>C
|
|
|
|
NM_001367561.1(DOCK7):c.5635-6T>C
|
rs2149260264
|
|
|
NM_001367561.1(DOCK7):c.5635-7A>G
|
rs763082480
|
|
|
NM_001367561.1(DOCK7):c.5655T>C (p.Phe1885=)
|
rs2149260218
|
|
|
NM_001367561.1(DOCK7):c.5679C>T (p.Ile1893=)
|
|
|
|
NM_001367561.1(DOCK7):c.5700C>T (p.Asp1900=)
|
rs556891960
|
|
|
NM_001367561.1(DOCK7):c.5703G>A (p.Lys1901=)
|
rs1571222772
|
|
|
NM_001367561.1(DOCK7):c.5724+10A>T
|
rs2149260109
|
|
|
NM_001367561.1(DOCK7):c.5724+13C>G
|
|
|
|
NM_001367561.1(DOCK7):c.5724+14G>A
|
|
|
|
NM_001367561.1(DOCK7):c.5724+14G>T
|
|
|
|
NM_001367561.1(DOCK7):c.5725-10T>C
|
|
|
|
NM_001367561.1(DOCK7):c.5725-4C>G
|
|
|
|
NM_001367561.1(DOCK7):c.5725-4C>T
|
|
|
|
NM_001367561.1(DOCK7):c.5727A>T (p.Ala1909=)
|
|
|
|
NM_001367561.1(DOCK7):c.5742C>T (p.Thr1914=)
|
rs766918811
|
|
|
NM_001367561.1(DOCK7):c.5757C>T (p.Tyr1919=)
|
|
|
|
NM_001367561.1(DOCK7):c.5766A>G (p.Thr1922=)
|
rs1557597151
|
|
|
NM_001367561.1(DOCK7):c.5818C>A (p.Arg1940=)
|
|
|
|
NM_001367561.1(DOCK7):c.5829C>T (p.Tyr1943=)
|
|
|
|
NM_001367561.1(DOCK7):c.5874T>C (p.His1958=)
|
rs1645952963
|
|
|
NM_001367561.1(DOCK7):c.5925T>C (p.Tyr1975=)
|
|
|
|
NM_001367561.1(DOCK7):c.5937G>A (p.Arg1979=)
|
|
|
|
NM_001367561.1(DOCK7):c.5961+15G>A
|
rs2149259503
|
|
|
NM_001367561.1(DOCK7):c.5961+9A>C
|
|
|
|
NM_001367561.1(DOCK7):c.5964C>T (p.Ile1988=)
|
rs2149258796
|
|
|
NM_001367561.1(DOCK7):c.5967C>A (p.Ile1989=)
|
|
|
|
NM_001367561.1(DOCK7):c.597A>G (p.Lys199=)
|
rs2149679146
|
|
|
NM_001367561.1(DOCK7):c.5997C>T (p.Asp1999=)
|
rs2149258747
|
|
|
NM_001367561.1(DOCK7):c.603A>G (p.Ser201=)
|
rs2149679135
|
|
|
NM_001367561.1(DOCK7):c.6084T>C (p.Ser2028=)
|
|
|
|
NM_001367561.1(DOCK7):c.6090C>G (p.Gly2030=)
|
|
|
|
NM_001367561.1(DOCK7):c.6096A>T (p.Thr2032=)
|
rs2149258590
|
|
|
NM_001367561.1(DOCK7):c.6105+7G>A
|
rs769034143
|
|
|
NM_001367561.1(DOCK7):c.6106-12_6106-10del
|
rs1571216768
|
|
|
NM_001367561.1(DOCK7):c.6106-19T>G
|
rs2149256727
|
|
|
NM_001367561.1(DOCK7):c.6106-20C>T
|
|
|
|
NM_001367561.1(DOCK7):c.6106-4G>A
|
rs376514981
|
|
|
NM_001367561.1(DOCK7):c.6135G>C (p.Leu2045=)
|
rs2149256623
|
|
|
NM_001367561.1(DOCK7):c.6213-14C>G
|
|
|
|
NM_001367561.1(DOCK7):c.6216T>C (p.Cys2072=)
|
rs1553147733
|
|
|
NM_001367561.1(DOCK7):c.6237T>C (p.Asn2079=)
|
rs1571160560
|
|
|
NM_001367561.1(DOCK7):c.6243C>T (p.Ser2081=)
|
rs1226990619
|
|
|
NM_001367561.1(DOCK7):c.6264G>A (p.Lys2088=)
|
|
|
|
NM_001367561.1(DOCK7):c.6267G>A (p.Glu2089=)
|
|
|
|
NM_001367561.1(DOCK7):c.630A>G (p.Leu210=)
|
|
|
|
NM_001367561.1(DOCK7):c.6330C>T (p.Asn2110=)
|
rs376000534
|
|
|
NM_001367561.1(DOCK7):c.6339C>T (p.Ile2113=)
|
|
|
|
NM_001367561.1(DOCK7):c.6360A>G (p.Val2120=)
|
|
|
|
NM_001367561.1(DOCK7):c.6375C>T (p.Cys2125=)
|
rs2149219371
|
|
|
NM_001367561.1(DOCK7):c.6380+10T>A
|
rs2149219331
|
|
|
NM_001367561.1(DOCK7):c.6380+19G>T
|
|
|
|
NM_001367561.1(DOCK7):c.6381-33_6381-20del
|
rs767327057
|
|
|
NM_001367561.1(DOCK7):c.6381-3dup
|
rs774039786
|
|
|
NM_001367561.1(DOCK7):c.6381-6T>C
|
rs200786837
|
|
|
NM_001367561.1(DOCK7):c.6387C>T (p.Ser2129=)
|
|
|
|
NM_001367561.1(DOCK7):c.690C>T (p.Asn230=)
|
rs776885851
|
|
|
NM_001367561.1(DOCK7):c.732+13G>A
|
|
|
|
NM_001367561.1(DOCK7):c.732+16T>C
|
rs773208829
|
|
|
NM_001367561.1(DOCK7):c.732+18T>C
|
rs999884719
|
|
|
NM_001367561.1(DOCK7):c.732+19A>G
|
|
|
|
NM_001367561.1(DOCK7):c.732+9G>A
|
|
|
|
NM_001367561.1(DOCK7):c.733-15C>T
|
|
|
|
NM_001367561.1(DOCK7):c.733-17T>C
|
|
|
|
NM_001367561.1(DOCK7):c.733-21_733-4del
|
|
|
|
NM_001367561.1(DOCK7):c.753T>C (p.Leu251=)
|
|
|
|
NM_001367561.1(DOCK7):c.78A>G (p.Gln26=)
|
|
|
|
NM_001367561.1(DOCK7):c.795T>A (p.Leu265=)
|
|
|
|
NM_001367561.1(DOCK7):c.818+7A>G
|
rs2149677631
|
|
|
NM_001367561.1(DOCK7):c.819-18T>C
|
|
|
|
NM_001367561.1(DOCK7):c.819-6A>T
|
rs1553192254
|
|
|
NM_001367561.1(DOCK7):c.861A>G (p.Leu287=)
|
|
|
|
NM_001367561.1(DOCK7):c.885+13A>G
|
|
|
|
NM_001367561.1(DOCK7):c.885+18G>C
|
|
|
|
NM_001367561.1(DOCK7):c.885+18G>T
|
|
|
|
NM_001367561.1(DOCK7):c.886-21_886-18del
|
|
|
|
NM_001367561.1(DOCK7):c.886-25_886-19del
|
|
|
|
NM_001367561.1(DOCK7):c.897C>T (p.Asn299=)
|
rs1655063926
|
|
|
NM_001367561.1(DOCK7):c.909C>T (p.Asp303=)
|
|
|
|
NM_001367561.1(DOCK7):c.933G>T (p.Gly311=)
|
|
|
|
NM_001367561.1(DOCK7):c.945A>G (p.Pro315=)
|
|
|
|
NM_001367561.1(DOCK7):c.954A>G (p.Pro318=)
|
rs1571851223
|
|
|
NM_001958.5(EEF1A2):c.1002G>A (p.Pro334=)
|
rs759770756
|
|
|
NM_001958.5(EEF1A2):c.1020C>T (p.Phe340=)
|
rs2145939960
|
|
|
NM_001958.5(EEF1A2):c.1023C>T (p.Thr341=)
|
|
|
|
NM_001958.5(EEF1A2):c.1029+11_1029+12delinsAT
|
rs2145939944
|
|
|
NM_001958.5(EEF1A2):c.1030-10C>G
|
|
|
|
NM_001958.5(EEF1A2):c.1030-11T>G
|
|
|
|
NM_001958.5(EEF1A2):c.1030-20G>A
|
|
|
|
NM_001958.5(EEF1A2):c.1050G>A (p.Pro350=)
|
rs1222452639
|
|
|
NM_001958.5(EEF1A2):c.1059T>C (p.Ile353=)
|
|
|
|
NM_001958.5(EEF1A2):c.1068C>T (p.Gly356=)
|
|
|
|
NM_001958.5(EEF1A2):c.1077G>A (p.Pro359=)
|
|
|
|
NM_001958.5(EEF1A2):c.1077G>C (p.Pro359=)
|
|
|
|
NM_001958.5(EEF1A2):c.1119G>A (p.Ala373=)
|
|
|
|
NM_001958.5(EEF1A2):c.1137T>A (p.Ile379=)
|
rs1204115008
|
|
|
NM_001958.5(EEF1A2):c.114C>G (p.Thr38=)
|
|
|
|
NM_001958.5(EEF1A2):c.1159C>T (p.Leu387=)
|
rs2145938785
|
|
|
NM_001958.5(EEF1A2):c.1161G>A (p.Leu387=)
|
|
|
|
NM_001958.5(EEF1A2):c.1164G>A (p.Glu388=)
|
|
|
|
NM_001958.5(EEF1A2):c.1182G>A (p.Leu394=)
|
rs199643016
|
|
|
NM_001958.5(EEF1A2):c.1197G>A (p.Ala399=)
|
rs1243124575
|
|
|
NM_001958.5(EEF1A2):c.1200C>T (p.Ala400=)
|
|
|
|
NM_001958.5(EEF1A2):c.1203C>A (p.Ile401=)
|
rs758653621
|
|
|
NM_001958.5(EEF1A2):c.1215G>C (p.Val405=)
|
rs1600902095
|
|
|
NM_001958.5(EEF1A2):c.1264+13G>C
|
rs2145938697
|
|
|
NM_001958.5(EEF1A2):c.1264+17C>G
|
|
|
|
NM_001958.5(EEF1A2):c.1264+17C>T
|
|
|
|
NM_001958.5(EEF1A2):c.1264+17del
|
|
|
|
NM_001958.5(EEF1A2):c.1264+7C>A
|
rs1043290712
|
|
|
NM_001958.5(EEF1A2):c.1264+7C>G
|
rs1043290712
|
|
|
NM_001958.5(EEF1A2):c.1265-10C>G
|
|
|
|
NM_001958.5(EEF1A2):c.1265-11C>T
|
rs762339090
|
|
|
NM_001958.5(EEF1A2):c.1265-12C>A
|
|
|
|
NM_001958.5(EEF1A2):c.1265-15C>A
|
rs200634874
|
|
|
NM_001958.5(EEF1A2):c.1265-16GCCCCCC[3]
|
rs760400114
|
|
|
NM_001958.5(EEF1A2):c.1265-23_1265-6dup
|
|
|
|
NM_001958.5(EEF1A2):c.1265-6C>T
|
|
|
|
NM_001958.5(EEF1A2):c.1265-7C>T
|
|
|
|
NM_001958.5(EEF1A2):c.1265-8C>G
|
rs1430868348
|
|
|
NM_001958.5(EEF1A2):c.1265-8C>T
|
|
|
|
NM_001958.5(EEF1A2):c.1272C>T (p.Phe424=)
|
|
|
|
NM_001958.5(EEF1A2):c.1275C>T (p.Ala425=)
|
|
|
|
NM_001958.5(EEF1A2):c.1296G>C (p.Thr432=)
|
rs200259257
|
|
|
NM_001958.5(EEF1A2):c.1296G>T (p.Thr432=)
|
rs200259257
|
|
|
NM_001958.5(EEF1A2):c.1302C>T (p.Ala434=)
|
rs1057522311
|
|
|
NM_001958.5(EEF1A2):c.1311C>G (p.Val437=)
|
|
|
|
NM_001958.5(EEF1A2):c.1311C>T (p.Val437=)
|
rs2145938170
|
|
|
NM_001958.5(EEF1A2):c.1332G>A (p.Lys444=)
|
|
|
|
NM_001958.5(EEF1A2):c.1344C>G (p.Ala448=)
|
|
|
|
NM_001958.5(EEF1A2):c.1344C>T (p.Ala448=)
|
|
|
|
NM_001958.5(EEF1A2):c.1356C>A (p.Thr452=)
|
|
|
|
NM_001958.5(EEF1A2):c.1356C>G (p.Thr452=)
|
|
|
|
NM_001958.5(EEF1A2):c.1365G>A (p.Ala455=)
|
rs1600901507
|
|
|
NM_001958.5(EEF1A2):c.1374G>A (p.Ala458=)
|
rs2145938105
|
|
|
NM_001958.5(EEF1A2):c.1383G>A (p.Ala461=)
|
rs781155823
|
|
|
NM_001958.5(EEF1A2):c.144+12A>G
|
|
|
|
NM_001958.5(EEF1A2):c.144+6C>T
|
rs1179785181
|
|
|
NM_001958.5(EEF1A2):c.144+8C>A
|
rs2145946769
|
|
|
NM_001958.5(EEF1A2):c.145-18G>C
|
|
|
|
NM_001958.5(EEF1A2):c.145-20G>A
|
rs756963600
|
|
|
NM_001958.5(EEF1A2):c.145-20G>T
|
rs756963600
|
|
|
NM_001958.5(EEF1A2):c.145-7G>A
|
rs536472004
|
|
|
NM_001958.5(EEF1A2):c.145-7_145-6del
|
rs781781112
|
|
|
NM_001958.5(EEF1A2):c.150G>C (p.Gly50=)
|
rs751627255
|
|
|
NM_001958.5(EEF1A2):c.180G>T (p.Leu60=)
|
rs760484799
|
|
|
NM_001958.5(EEF1A2):c.195G>A (p.Ala65=)
|
|
|
|
NM_001958.5(EEF1A2):c.222C>T (p.Asp74=)
|
|
|
|
NM_001958.5(EEF1A2):c.228C>A (p.Ser76=)
|
rs770506057
|
|
|
NM_001958.5(EEF1A2):c.231C>G (p.Leu77=)
|
rs1600908507
|
|
|
NM_001958.5(EEF1A2):c.273T>C (p.Asp91=)
|
rs1555883864
|
|
|
NM_001958.5(EEF1A2):c.288C>A (p.Arg96=)
|
|
|
|
NM_001958.5(EEF1A2):c.28A>T (p.Ile10Phe)
|
rs2145946874
|
|
|
NM_001958.5(EEF1A2):c.324+8G>A
|
|
|
|
NM_001958.5(EEF1A2):c.324+9G>A
|
rs2145945388
|
|
|
NM_001958.5(EEF1A2):c.325-14C>A
|
|
|
|
NM_001958.5(EEF1A2):c.325-14C>T
|
rs2082410940
|
|
|
NM_001958.5(EEF1A2):c.325-20C>A
|
|
|
|
NM_001958.5(EEF1A2):c.332G>A (p.Cys111Tyr)
|
rs2145944981
|
|
|
NM_001958.5(EEF1A2):c.333C>T (p.Cys111=)
|
|
|
|
NM_001958.5(EEF1A2):c.384C>T (p.Ser128=)
|
|
|
|
NM_001958.5(EEF1A2):c.390T>C (p.Asn130=)
|
rs764383059
|
|
|
NM_001958.5(EEF1A2):c.398C>T (p.Thr133Met)
|
rs1555883816
|
|
|
NM_001958.5(EEF1A2):c.426G>T (p.Thr142=)
|
|
|
|
NM_001958.5(EEF1A2):c.444C>T (p.Leu148=)
|
|
|
|
NM_001958.5(EEF1A2):c.447C>A (p.Ile149=)
|
|
|
|
NM_001958.5(EEF1A2):c.468C>T (p.Asp156=)
|
|
|
|
NM_001958.5(EEF1A2):c.471C>G (p.Ser157=)
|
rs1600907789
|
|
|
NM_001958.5(EEF1A2):c.513C>T (p.Val171=)
|
rs201149992
|
|
|
NM_001958.5(EEF1A2):c.522C>T (p.Val174=)
|
|
|
|
NM_001958.5(EEF1A2):c.525C>T (p.Ser175=)
|
|
|
|
NM_001958.5(EEF1A2):c.549C>T (p.Tyr183=)
|
rs2145944762
|
|
|
NM_001958.5(EEF1A2):c.54C>G (p.Ser18=)
|
rs200759764
|
|
|
NM_001958.5(EEF1A2):c.54C>T (p.Ser18=)
|
rs200759764
|
|
|
NM_001958.5(EEF1A2):c.555G>A (p.Pro185=)
|
|
|
|
NM_001958.5(EEF1A2):c.621+10G>T
|
|
|
|
NM_001958.5(EEF1A2):c.621+14_621+18dup
|
|
|
|
NM_001958.5(EEF1A2):c.621+16G>A
|
|
|
|
NM_001958.5(EEF1A2):c.621+7G>T
|
rs1376340355
|
|
|
NM_001958.5(EEF1A2):c.622-17T>G
|
|
|
|
NM_001958.5(EEF1A2):c.627G>A (p.Pro209=)
|
|
|
|
NM_001958.5(EEF1A2):c.639C>T (p.Gly213=)
|
|
|
|
NM_001958.5(EEF1A2):c.682C>T (p.Leu228=)
|
rs1555883739
|
|
|
NM_001958.5(EEF1A2):c.685C>T (p.Leu229=)
|
|
|
|
NM_001958.5(EEF1A2):c.687G>C (p.Leu229=)
|
|
|
|
NM_001958.5(EEF1A2):c.6C>G (p.Gly2=)
|
|
|
|
NM_001958.5(EEF1A2):c.706C>T (p.Leu236=)
|
|
|
|
NM_001958.5(EEF1A2):c.711C>T (p.Pro237=)
|
|
|
|
NM_001958.5(EEF1A2):c.714C>A (p.Pro238=)
|
rs557317848
|
|
|
NM_001958.5(EEF1A2):c.714C>G (p.Pro238=)
|
rs557317848
|
|
|
NM_001958.5(EEF1A2):c.714C>T (p.Pro238=)
|
rs557317848
|
|
|
NM_001958.5(EEF1A2):c.729C>T (p.Asp243=)
|
|
|
|
NM_001958.5(EEF1A2):c.735C>G (p.Pro245=)
|
rs2082398925
|
|
|
NM_001958.5(EEF1A2):c.756C>T (p.Asp252=)
|
|
|
|
NM_001958.5(EEF1A2):c.759G>A (p.Val253=)
|
|
|
|
NM_001958.5(EEF1A2):c.772+10G>A
|
rs2145943548
|
|
|
NM_001958.5(EEF1A2):c.772+11G>A
|
|
|
|
NM_001958.5(EEF1A2):c.772+14C>T
|
|
|
|
NM_001958.5(EEF1A2):c.772+16G>A
|
|
|
|
NM_001958.5(EEF1A2):c.772+19C>T
|
|
|
|
NM_001958.5(EEF1A2):c.772+7A>G
|
|
|
|
NM_001958.5(EEF1A2):c.773-12del
|
|
|
|
NM_001958.5(EEF1A2):c.810C>T (p.Gly270=)
|
|
|
|
NM_001958.5(EEF1A2):c.819G>A (p.Arg273=)
|
|
|
|
NM_001958.5(EEF1A2):c.822G>A (p.Pro274=)
|
|
|
|
NM_001958.5(EEF1A2):c.858C>T (p.Thr286=)
|
rs1238751886
|
|
|
NM_001958.5(EEF1A2):c.870G>A (p.Lys290=)
|
|
|
|
NM_001958.5(EEF1A2):c.873A>C (p.Ser291=)
|
|
|
|
NM_001958.5(EEF1A2):c.87C>T (p.Tyr29=)
|
|
|
|
NM_001958.5(EEF1A2):c.909G>A (p.Leu303=)
|
|
|
|
NM_001958.5(EEF1A2):c.930C>T (p.Phe310=)
|
rs2145940056
|
|
|
NM_001958.5(EEF1A2):c.933T>C (p.Asn311=)
|
rs2145940054
|
|
|
NM_001958.5(EEF1A2):c.947C>T (p.Ser316Leu)
|
rs2082374152
|
|
|
NM_001958.5(EEF1A2):c.957C>T (p.Asp319=)
|
rs1054278909
|
|
|
NM_001958.5(EEF1A2):c.966G>C (p.Arg322=)
|
|
|
|
NM_001958.5(EEF1A2):c.972C>T (p.Asn324=)
|
|
|
|
NM_001958.5(EEF1A2):c.984C>T (p.Asp328=)
|
rs2145940003
|
|
|
NM_002641.4(PIGA):c.1095A>G (p.Gln365=)
|
rs1555944375
|
|
|
NM_002641.4(PIGA):c.1143A>G (p.Val381=)
|
|
|
|
NM_002641.4(PIGA):c.1149T>C (p.Thr383=)
|
|
|
|
NM_002641.4(PIGA):c.1185A>G (p.Glu395=)
|
rs1234870253
|
|
|
NM_002641.4(PIGA):c.1188+14T>A
|
|
|
|
NM_002641.4(PIGA):c.1188+20A>G
|
|
|
|
NM_002641.4(PIGA):c.1189-17G>T
|
|
|
|
NM_002641.4(PIGA):c.1200G>A (p.Arg400=)
|
|
|
|
NM_002641.4(PIGA):c.1219T>C (p.Leu407=)
|
|
|
|
NM_002641.4(PIGA):c.1311C>T (p.Leu437=)
|
rs2147714758
|
|
|
NM_002641.4(PIGA):c.1386T>C (p.Gly462=)
|
|
|
|
NM_002641.4(PIGA):c.216T>C (p.His72=)
|
|
|
|
NM_002641.4(PIGA):c.252C>T (p.Thr84=)
|
|
|
|
NM_002641.4(PIGA):c.291G>T (p.Met97Ile)
|
|
|
|
NM_002641.4(PIGA):c.300G>A (p.Gln100=)
|
rs757482806
|
|
|
NM_002641.4(PIGA):c.339C>G (p.Leu113=)
|
|
|
|
NM_002641.4(PIGA):c.387T>C (p.Ser129=)
|
rs2147723733
|
|
|
NM_002641.4(PIGA):c.390T>C (p.Ser130=)
|
rs2147723729
|
|
|
NM_002641.4(PIGA):c.399T>C (p.Ala133=)
|
rs2147723722
|
|
|
NM_002641.4(PIGA):c.417C>T (p.Leu139=)
|
rs2147723711
|
|
|
NM_002641.4(PIGA):c.420C>T (p.Phe140=)
|
rs760682734
|
|
|
NM_002641.4(PIGA):c.441T>C (p.Leu147=)
|
rs2147723672
|
|
|
NM_002641.4(PIGA):c.447A>G (p.Thr149=)
|
|
|
|
NM_002641.4(PIGA):c.591A>G (p.Ala197=)
|
|
|
|
NM_002641.4(PIGA):c.651A>G (p.Pro217=)
|
|
|
|
NM_002641.4(PIGA):c.715+18A>G
|
|
|
|
NM_002641.4(PIGA):c.715+7A>C
|
rs1233865208
|
|
|
NM_002641.4(PIGA):c.732T>C (p.Ser244=)
|
|
|
|
NM_002641.4(PIGA):c.744T>G (p.Pro248=)
|
rs2147718511
|
|
|
NM_002641.4(PIGA):c.789A>T (p.Gly263=)
|
|
|
|
NM_002641.4(PIGA):c.811T>C (p.Leu271=)
|
|
|
|
NM_002641.4(PIGA):c.848+20T>A
|
|
|
|
NM_002641.4(PIGA):c.848+20T>C
|
|
|
|
NM_002641.4(PIGA):c.849-16_849-15del
|
rs2147717767
|
|
|
NM_002641.4(PIGA):c.852G>T (p.Val284=)
|
|
|
|
NM_002641.4(PIGA):c.864A>T (p.Gly288=)
|
|
|
|
NM_002641.4(PIGA):c.924C>G (p.Thr308=)
|
rs144162396
|
|
|
NM_002641.4(PIGA):c.954C>T (p.Ile318=)
|
rs1353341156
|
|
|
NM_002641.4(PIGA):c.960A>G (p.Glu320=)
|
|
|
|
NM_002641.4(PIGA):c.981+11T>A
|
|
|
|
NM_002641.4(PIGA):c.982-17CTTT[2]
|
rs763470538
|
|
|
NM_002641.4(PIGA):c.982-4T>A
|
rs1555944399
|
|
|
NM_002641.4(PIGA):c.982-4T>G
|
rs1555944399
|
|
|
NM_002641.4(PIGA):c.982-9C>G
|
|
|
|
NM_002641.4(PIGA):c.982-9del
|
rs1555944408
|
|
|
NM_002641.4(PIGA):c.984T>C (p.Val328=)
|
rs2147717510
|
|
|
NM_003165.6(STXBP1):c.1713C>T (p.His571=)
|
rs1053771056
|
|
|
NM_003165.6(STXBP1):c.1752C>T (p.His584=)
|
|
|
|
NM_003165.6(STXBP1):c.1803A>G (p.Thr601=)
|
|
|
|
NM_004408.4(DNM1):c.1020T>C (p.Phe340=)
|
rs2131173713
|
|
|
NM_004408.4(DNM1):c.1028G>A (p.Arg343His)
|
|
|
|
NM_004408.4(DNM1):c.1035G>A (p.Glu345=)
|
|
|
|
NM_004408.4(DNM1):c.1089C>T (p.Asn363=)
|
rs1377650055
|
|
|
NM_004408.4(DNM1):c.108G>T (p.Val36=)
|
|
|
|
NM_004408.4(DNM1):c.1104G>A (p.Glu368=)
|
|
|
|
NM_004408.4(DNM1):c.1125C>A (p.Val375=)
|
rs760118978
|
|
|
NM_004408.4(DNM1):c.1128+12A>C
|
|
|
|
NM_004408.4(DNM1):c.1129-18C>A
|
|
|
|
NM_004408.4(DNM1):c.1134G>A (p.Glu378=)
|
rs1365194190
|
|
|
NM_004408.4(DNM1):c.1140T>C (p.Asp380=)
|
|
|
|
NM_004408.4(DNM1):c.114C>A (p.Gly38=)
|
|
|
|
NM_004408.4(DNM1):c.114C>T (p.Gly38=)
|
rs1326366504
|
|
|
NM_004408.4(DNM1):c.1153C>T (p.Arg385Ter)
|
rs1835102166
|
|
|
NM_004408.4(DNM1):c.1182T>C (p.Asn394=)
|
rs1171703565
|
|
|
NM_004408.4(DNM1):c.1196+14C>A
|
|
|
|
NM_004408.4(DNM1):c.1196+16T>C
|
|
|
|
NM_004408.4(DNM1):c.1196+17G>A
|
|
|
|
NM_004408.4(DNM1):c.1196+7A>C
|
rs955349107
|
|
|
NM_004408.4(DNM1):c.1196+7A>T
|
|
|
|
NM_004408.4(DNM1):c.1196+8T>C
|
rs1588370851
|
|
|
NM_004408.4(DNM1):c.1197-14C>T
|
|
|
|
NM_004408.4(DNM1):c.1197-16C>G
|
|
|
|
NM_004408.4(DNM1):c.1206G>A (p.Leu402=)
|
rs754423616
|
|
|
NM_004408.4(DNM1):c.1226T>C (p.Phe409Ser)
|
rs2131181546
|
|
|
NM_004408.4(DNM1):c.1257G>A (p.Lys419=)
|
rs2131181635
|
|
|
NM_004408.4(DNM1):c.1299G>A (p.Ser433=)
|
|
|
|
NM_004408.4(DNM1):c.1303C>T (p.Leu435=)
|
|
|
|
NM_004408.4(DNM1):c.1329C>G (p.Thr443=)
|
rs2131181922
|
|
|
NM_004408.4(DNM1):c.1335+13C>T
|
|
|
|
NM_004408.4(DNM1):c.1335+14C>T
|
|
|
|
NM_004408.4(DNM1):c.1335+15C>G
|
|
|
|
NM_004408.4(DNM1):c.1335+15C>T
|
rs779719063
|
|
|
NM_004408.4(DNM1):c.1335+16G>T
|
rs768442528
|
|
|
NM_004408.4(DNM1):c.1336-18C>T
|
|
|
|
NM_004408.4(DNM1):c.1336-6C>T
|
rs1400533057
|
|
|
NM_004408.4(DNM1):c.1344G>A (p.Gln448=)
|
rs1352962318
|
|
|
NM_004408.4(DNM1):c.1377C>T (p.Ile459=)
|
rs756256016
|
|
|
NM_004408.4(DNM1):c.138G>A (p.Ser46=)
|
rs781131754
|
|
|
NM_004408.4(DNM1):c.1393C>T (p.Arg465Trp)
|
rs772264918
|
|
|
NM_004408.4(DNM1):c.1401C>A (p.Arg467=)
|
|
|
|
NM_004408.4(DNM1):c.1416G>A (p.Lys472=)
|
rs1835861637
|
|
|
NM_004408.4(DNM1):c.1422+13G>A
|
|
|
|
NM_004408.4(DNM1):c.1422+19G>A
|
rs1440002003
|
|
|
NM_004408.4(DNM1):c.1422+19G>T
|
|
|
|
NM_004408.4(DNM1):c.1422+6_1422+83dup
|
|
|
|
NM_004408.4(DNM1):c.1422+8C>T
|
|
|
|
NM_004408.4(DNM1):c.1423-16C>T
|
|
|
|
NM_004408.4(DNM1):c.1423-16del
|
|
|
|
NM_004408.4(DNM1):c.1423-17C>T
|
|
|
|
NM_004408.4(DNM1):c.1461C>T (p.Asn487=)
|
rs1318922555
|
|
|
NM_004408.4(DNM1):c.1462A>G (p.Thr488Ala)
|
rs2131251443
|
|
|
NM_004408.4(DNM1):c.1493+17G>A
|
|
|
|
NM_004408.4(DNM1):c.1494-11C>T
|
|
|
|
NM_004408.4(DNM1):c.1494-5A>G
|
rs1836247500
|
|
|
NM_004408.4(DNM1):c.1512C>T (p.Asn504=)
|
|
|
|
NM_004408.4(DNM1):c.1545+18C>A
|
|
|
|
NM_004408.4(DNM1):c.1557+1G>C
|
rs1230944082
|
|
|
NM_004408.4(DNM1):c.1558-13C>T
|
rs2131262430
|
|
|
NM_004408.4(DNM1):c.1566C>T (p.Arg522=)
|
|
|
|
NM_004408.4(DNM1):c.161+14G>A
|
|
|
|
NM_004408.4(DNM1):c.161+8C>T
|
|
|
|
NM_004408.4(DNM1):c.162-8C>T
|
rs1205557529
|
|
|
NM_004408.4(DNM1):c.162-9T>G
|
rs920593927
|
|
|
NM_004408.4(DNM1):c.1665T>C (p.Asp555=)
|
|
|
|
NM_004408.4(DNM1):c.1671+7C>G
|
|
|
|
NM_004408.4(DNM1):c.1671+7C>T
|
|
|
|
NM_004408.4(DNM1):c.1698T>C (p.Ser566=)
|
rs749674787
|
|
|
NM_004408.4(DNM1):c.1714C>T (p.Leu572=)
|
rs2131283571
|
|
|
NM_004408.4(DNM1):c.1761C>T (p.Ala587=)
|
|
|
|
NM_004408.4(DNM1):c.1781+16del
|
|
|
|
NM_004408.4(DNM1):c.1781+18G>C
|
|
|
|
NM_004408.4(DNM1):c.1781+9C>T
|
|
|
|
NM_004408.4(DNM1):c.1782-13C>T
|
|
|
|
NM_004408.4(DNM1):c.1782-8T>C
|
|
|
|
NM_004408.4(DNM1):c.1807C>T (p.Leu603=)
|
|
|
|
NM_004408.4(DNM1):c.1850A>G (p.Lys617Arg)
|
rs1564352065
|
|
|
NM_004408.4(DNM1):c.1893+7G>T
|
rs1157263142
|
|
|
NM_004408.4(DNM1):c.1894-10G>A
|
|
|
|
NM_004408.4(DNM1):c.1894-8C>T
|
rs912124924
|
|
|
NM_004408.4(DNM1):c.1905+9G>T
|
rs2131289646
|
|
|
NM_004408.4(DNM1):c.1906-12T>C
|
|
|
|
NM_004408.4(DNM1):c.1920G>A (p.Glu640=)
|
rs1554784647
|
|
|
NM_004408.4(DNM1):c.1935C>T (p.Asp645=)
|
|
|
|
NM_004408.4(DNM1):c.1969C>A (p.Arg657=)
|
rs2131291997
|
|
|
NM_004408.4(DNM1):c.1983C>T (p.Thr661=)
|
|
|
|
NM_004408.4(DNM1):c.2009T>C (p.Met670Thr)
|
rs1437208936
|
|
|
NM_004408.4(DNM1):c.2022C>T (p.Asn674=)
|
|
|
|
NM_004408.4(DNM1):c.2028C>T (p.Thr676=)
|
rs1339784958
|
|
|
NM_004408.4(DNM1):c.2031G>A (p.Val677=)
|
rs1441521036
|
|
|
NM_004408.4(DNM1):c.2055C>A (p.Ile685=)
|
|
|
|
NM_004408.4(DNM1):c.2061C>T (p.His687=)
|
rs1026710429
|
|
|
NM_004408.4(DNM1):c.2077-16C>T
|
|
|
|
NM_004408.4(DNM1):c.2077-5C>G
|
|
|
|
NM_004408.4(DNM1):c.2077-8A>G
|
|
|
|
NM_004408.4(DNM1):c.2082G>A (p.Lys694=)
|
rs1284689897
|
|
|
NM_004408.4(DNM1):c.2106G>C (p.Leu702=)
|
|
|
|
NM_004408.4(DNM1):c.2121G>A (p.Ser707=)
|
|
|
|
NM_004408.4(DNM1):c.2157G>C (p.Ala719=)
|
|
|
|
NM_004408.4(DNM1):c.216G>A (p.Gln72=)
|
rs781185286
|
|
|
NM_004408.4(DNM1):c.2170C>A (p.Arg724=)
|
rs1386035686
|
|
|
NM_004408.4(DNM1):c.2178C>T (p.Asp726=)
|
|
|
|
NM_004408.4(DNM1):c.2187G>A (p.Leu729=)
|
rs749382749
|
|
|
NM_004408.4(DNM1):c.2190C>T (p.Arg730=)
|
|
|
|
NM_004408.4(DNM1):c.2208G>A (p.Lys736=)
|
rs1829430358
|
|
|
NM_004408.4(DNM1):c.2211G>A (p.Glu737=)
|
|
|
|
NM_004408.4(DNM1):c.2241G>C (p.Thr747=)
|
rs1184149576
|
|
|
NM_004408.4(DNM1):c.2241G>T (p.Thr747=)
|
|
|
|
NM_004408.4(DNM1):c.2271C>G (p.Pro757=)
|
rs762520472
|
|
|
NM_004408.4(DNM1):c.2271C>T (p.Pro757=)
|
rs762520472
|
|
|
NM_004408.4(DNM1):c.2289G>T (p.Leu763=)
|
rs1393047937
|
|
|
NM_004408.4(DNM1):c.2318+14C>A
|
rs1251375115
|
|
|
NM_004408.4(DNM1):c.2319-5C>G
|
rs947802436
|
|
|
NM_004408.4(DNM1):c.2319-5C>T
|
|
|
|
NM_004408.4(DNM1):c.2319-8G>A
|
|
|
|
NM_004408.4(DNM1):c.2319-9C>T
|
|
|
|
NM_004408.4(DNM1):c.2340G>A (p.Thr780=)
|
|
|
|
NM_004408.4(DNM1):c.235+18C>T
|
|
|
|
NM_004408.4(DNM1):c.235+9C>T
|
rs1834733486
|
|
|
NM_004408.4(DNM1):c.236-17G>T
|
|
|
|
NM_004408.4(DNM1):c.2385G>A (p.Ser795=)
|
|
|
|
NM_004408.4(DNM1):c.2391C>G (p.Gly797=)
|
rs1057521943
|
|
|
NM_004408.4(DNM1):c.2391C>T (p.Gly797=)
|
rs1057521943
|
|
|
NM_004408.4(DNM1):c.2427G>C (p.Leu809=)
|
rs897409469
|
|
|
NM_004408.4(DNM1):c.2429G>T (p.Gly810Val)
|
rs888747029
|
|
|
NM_004408.4(DNM1):c.2430G>C (p.Gly810=)
|
|
|
|
NM_004408.4(DNM1):c.243C>A (p.Ala81=)
|
|
|
|
NM_004408.4(DNM1):c.2445G>T (p.Val815=)
|
|
|
|
NM_004408.4(DNM1):c.2466C>A (p.Ser822=)
|
|
|
|
NM_004408.4(DNM1):c.246G>A (p.Glu82=)
|
|
|
|
NM_004408.4(DNM1):c.2484T>A (p.Pro828=)
|
rs888550421
|
|
|
NM_004408.4(DNM1):c.2496G>A (p.Val832=)
|
rs2131299802
|
|
|
NM_004408.4(DNM1):c.2526G>T (p.Gly842=)
|
rs1390465556
|
|
|
NM_004408.4(DNM1):c.2531C>G (p.Pro844Arg)
|
rs1564355393
|
|
|
NM_004408.4(DNM1):c.2534+7A>G
|
|
|
|
NM_004408.4(DNM1):c.2535-17T>C
|
|
|
|
NM_004408.4(DNM1):c.2541G>T (p.Ser847=)
|
|
|
|
NM_004408.4(DNM1):c.2544T>G (p.Gly848=)
|
|
|
|
NM_004408.4(DNM1):c.2583dup (p.Phe862fs)
|
rs1244967245
|
|
|
NM_004408.4(DNM1):c.2592C>T (p.Leu864=)
|
rs2131314459
|
|
|
NM_004408.4(DNM1):c.2594A>G (p.Ter865=)
|
rs550838267
|
|
|
NM_004408.4(DNM1):c.263_264delinsCT (p.Gly88Ala)
|
rs2131150312
|
|
|
NM_004408.4(DNM1):c.304G>A (p.Glu102Lys)
|
rs2131150438
|
|
|
NM_004408.4(DNM1):c.327C>T (p.Thr109=)
|
|
|
|
NM_004408.4(DNM1):c.342C>T (p.Gly114=)
|
rs553331150
|
|
|
NM_004408.4(DNM1):c.375C>T (p.Tyr125=)
|
rs2131150705
|
|
|
NM_004408.4(DNM1):c.385+11T>C
|
|
|
|
NM_004408.4(DNM1):c.385+18G>A
|
rs2131150824
|
|
|
NM_004408.4(DNM1):c.385+18G>C
|
|
|
|
NM_004408.4(DNM1):c.385+8C>T
|
|
|
|
NM_004408.4(DNM1):c.386-11G>T
|
|
|
|
NM_004408.4(DNM1):c.386-4C>G
|
|
|
|
NM_004408.4(DNM1):c.386-7T>C
|
rs1588352214
|
|
|
NM_004408.4(DNM1):c.411G>A (p.Leu137=)
|
|
|
|
NM_004408.4(DNM1):c.411G>T (p.Leu137=)
|
rs1051766292
|
|
|
NM_004408.4(DNM1):c.435G>T (p.Val145=)
|
|
|
|
NM_004408.4(DNM1):c.438G>A (p.Gly146=)
|
|
|
|
NM_004408.4(DNM1):c.468C>T (p.Ile156=)
|
|
|
|
NM_004408.4(DNM1):c.471A>G (p.Arg157=)
|
rs2131152882
|
|
|
NM_004408.4(DNM1):c.507C>T (p.Cys169=)
|
|
|
|
NM_004408.4(DNM1):c.519C>T (p.Ala173=)
|
rs2131152966
|
|
|
NM_004408.4(DNM1):c.54C>T (p.Asp18=)
|
rs2131061036
|
|
|
NM_004408.4(DNM1):c.589+14C>G
|
|
|
|
NM_004408.4(DNM1):c.589+19G>A
|
|
|
|
NM_004408.4(DNM1):c.589+8C>T
|
rs1588352832
|
|
|
NM_004408.4(DNM1):c.599C>T (p.Thr200Ile)
|
rs1834848160
|
|
|
NM_004408.4(DNM1):c.609C>T (p.Val203=)
|
rs1430929380
|
|
|
NM_004408.4(DNM1):c.644A>T (p.Asp215Val)
|
|
|
|
NM_004408.4(DNM1):c.669G>A (p.Lys223=)
|
rs2131157240
|
|
|
NM_004408.4(DNM1):c.683G>A (p.Arg228His)
|
rs866946278
|
|
|
NM_004408.4(DNM1):c.688+11C>T
|
rs2131157325
|
|
|
NM_004408.4(DNM1):c.688+13T>C
|
|
|
|
NM_004408.4(DNM1):c.688+16C>A
|
|
|
|
NM_004408.4(DNM1):c.688+16C>G
|
|
|
|
NM_004408.4(DNM1):c.688+17C>T
|
|
|
|
NM_004408.4(DNM1):c.688+18C>G
|
rs1253064816
|
|
|
NM_004408.4(DNM1):c.688+18C>T
|
|
|
|
NM_004408.4(DNM1):c.689-11A>T
|
|
|
|
NM_004408.4(DNM1):c.689-7T>C
|
|
|
|
NM_004408.4(DNM1):c.723C>T (p.Asp241=)
|
|
|
|
NM_004408.4(DNM1):c.741C>T (p.Asp247=)
|
|
|
|
NM_004408.4(DNM1):c.750C>T (p.Ala250=)
|
rs778276496
|
|
|
NM_004408.4(DNM1):c.753C>T (p.Ala251=)
|
rs1834862864
|
|
|
NM_004408.4(DNM1):c.757G>T (p.Ala253Ser)
|
rs752005713
|
|
|
NM_004408.4(DNM1):c.766C>T (p.Arg256Ter)
|
rs1456731322
|
|
|
NM_004408.4(DNM1):c.780C>G (p.Leu260=)
|
|
|
|
NM_004408.4(DNM1):c.791C>A (p.Ser264Tyr)
|
rs778811040
|
|
|
NM_004408.4(DNM1):c.792T>A (p.Ser264=)
|
|
|
|
NM_004408.4(DNM1):c.801C>T (p.His267=)
|
|
|
|
NM_004408.4(DNM1):c.807T>C (p.Ala269=)
|
rs1261949821
|
|
|
NM_004408.4(DNM1):c.81G>A (p.Ala27=)
|
rs1268920821
|
|
|
NM_004408.4(DNM1):c.824C>T (p.Pro275Leu)
|
rs1156961123
|
|
|
NM_004408.4(DNM1):c.843C>T (p.Leu281=)
|
rs764376283
|
|
|
NM_004408.4(DNM1):c.849+10C>A
|
rs2131158360
|
|
|
NM_004408.4(DNM1):c.858G>A (p.Thr286=)
|
|
|
|
NM_004408.4(DNM1):c.876A>G (p.Thr292=)
|
rs1194475149
|
|
|
NM_004408.4(DNM1):c.888G>A (p.Leu296=)
|
|
|
|
NM_004408.4(DNM1):c.891G>C (p.Arg297=)
|
rs2131172668
|
|
|
NM_004408.4(DNM1):c.898C>T (p.Leu300=)
|
|
|
|
NM_004408.4(DNM1):c.909G>A (p.Gln303=)
|
|
|
|
NM_004408.4(DNM1):c.921T>C (p.Ile307=)
|
|
|
|
NM_004408.4(DNM1):c.930G>A (p.Glu310=)
|
rs1272441165
|
|
|
NM_004408.4(DNM1):c.942C>T (p.Tyr314=)
|
|
|
|
NM_004408.4(DNM1):c.945G>T (p.Lys315Asn)
|
rs528406413
|
|
|
NM_004408.4(DNM1):c.954C>T (p.Arg318=)
|
rs774518740
|
|
|
NM_004408.4(DNM1):c.993-17C>T
|
|
|
|
NM_004408.4(DNM1):c.993-19C>G
|
rs1835081298
|
|
|
NM_004408.4(DNM1):c.993-6C>T
|
rs1196657001
|
|
|
NM_004974.4(KCNA2):c.1056T>C (p.Asp352=)
|
|
|
|
NM_004974.4(KCNA2):c.1074C>T (p.Phe358=)
|
rs749482104
|
|
|
NM_004974.4(KCNA2):c.1080C>T (p.Ser360=)
|
rs1347753369
|
|
|
NM_004974.4(KCNA2):c.1110C>G (p.Val370=)
|
rs746352821
|
|
|
NM_004974.4(KCNA2):c.1119A>G (p.Thr373=)
|
|
|
|
NM_004974.4(KCNA2):c.1149T>C (p.Thr383=)
|
|
|
|
NM_004974.4(KCNA2):c.1158G>A (p.Gly386=)
|
|
|
|
NM_004974.4(KCNA2):c.1179A>C (p.Leu393=)
|
|
|
|
NM_004974.4(KCNA2):c.120A>G (p.Ser40=)
|
rs1570754076
|
|
|
NM_004974.4(KCNA2):c.1215G>C (p.Pro405=)
|
|
|
|
NM_004974.4(KCNA2):c.1254C>T (p.His418=)
|
|
|
|
NM_004974.4(KCNA2):c.1256G>T (p.Arg419Leu)
|
|
|
|
NM_004974.4(KCNA2):c.1275A>G (p.Glu425=)
|
rs1468166534
|
|
|
NM_004974.4(KCNA2):c.1288T>C (p.Leu430=)
|
|
|
|
NM_004974.4(KCNA2):c.12C>T (p.Ala4=)
|
rs1570754202
|
|
|
NM_004974.4(KCNA2):c.1320C>T (p.Ser440=)
|
|
|
|
NM_004974.4(KCNA2):c.1338A>G (p.Lys446=)
|
|
|
|
NM_004974.4(KCNA2):c.1380G>T (p.Glu460Asp)
|
rs1649445890
|
|
|
NM_004974.4(KCNA2):c.1383C>T (p.Ile461=)
|
|
|
|
NM_004974.4(KCNA2):c.1389G>A (p.Glu463=)
|
|
|
|
NM_004974.4(KCNA2):c.1395A>G (p.Val465=)
|
|
|
|
NM_004974.4(KCNA2):c.1416T>C (p.Phe472=)
|
rs1181780424
|
|
|
NM_004974.4(KCNA2):c.1422G>A (p.Glu474=)
|
rs2101394728
|
|
|
NM_004974.4(KCNA2):c.1431G>A (p.Leu477=)
|
|
|
|
NM_004974.4(KCNA2):c.1464C>T (p.Asn488=)
|
|
|
|
NM_004974.4(KCNA2):c.1499G>A (p.Ter500=)
|
|
|
|
NM_004974.4(KCNA2):c.150C>A (p.Thr50=)
|
|
|
|
NM_004974.4(KCNA2):c.151T>C (p.Leu51=)
|
rs2101403936
|
|
|
NM_004974.4(KCNA2):c.15C>T (p.Thr5=)
|
|
|
|
NM_004974.4(KCNA2):c.165A>G (p.Pro55=)
|
rs2101403846
|
|
|
NM_004974.4(KCNA2):c.171C>T (p.Thr57=)
|
|
|
|
NM_004974.4(KCNA2):c.204C>T (p.Tyr68=)
|
|
|
|
NM_004974.4(KCNA2):c.216C>T (p.Leu72=)
|
|
|
|
NM_004974.4(KCNA2):c.231T>C (p.Phe77=)
|
|
|
|
NM_004974.4(KCNA2):c.246C>T (p.Arg82=)
|
|
|
|
NM_004974.4(KCNA2):c.261C>T (p.Ala87=)
|
rs749146957
|
|
|
NM_004974.4(KCNA2):c.267G>A (p.Leu89=)
|
|
|
|
NM_004974.4(KCNA2):c.276C>T (p.Tyr92=)
|
rs1553181436
|
|
|
NM_004974.4(KCNA2):c.282A>G (p.Ser94=)
|
rs1649510855
|
|
|
NM_004974.4(KCNA2):c.315C>T (p.Pro105=)
|
rs2101402754
|
|
|
NM_004974.4(KCNA2):c.340C>A (p.Arg114=)
|
|
|
|
NM_004974.4(KCNA2):c.341G>A (p.Arg114Gln)
|
|
|
|
NM_004974.4(KCNA2):c.365C>T (p.Ala122Val)
|
|
|
|
NM_004974.4(KCNA2):c.384A>G (p.Glu128=)
|
|
|
|
NM_004974.4(KCNA2):c.468A>T (p.Pro156=)
|
|
|
|
NM_004974.4(KCNA2):c.480G>T (p.Gly160=)
|
|
|
|
NM_004974.4(KCNA2):c.522G>C (p.Leu174=)
|
rs1649495668
|
|
|
NM_004974.4(KCNA2):c.531T>A (p.Ile177=)
|
|
|
|
NM_004974.4(KCNA2):c.534C>A (p.Val178=)
|
|
|
|
NM_004974.4(KCNA2):c.536G>A (p.Ser179Asn)
|
rs2101401302
|
|
|
NM_004974.4(KCNA2):c.537C>T (p.Ser179=)
|
|
|
|
NM_004974.4(KCNA2):c.546G>A (p.Leu182=)
|
rs2101401198
|
|
|
NM_004974.4(KCNA2):c.553T>C (p.Leu185=)
|
|
|
|
NM_004974.4(KCNA2):c.576T>C (p.Asn192=)
|
rs1438869224
|
|
|
NM_004974.4(KCNA2):c.582C>T (p.Asp194=)
|
rs2101400875
|
|
|
NM_004974.4(KCNA2):c.611C>T (p.Thr204Ile)
|
rs1421276694
|
|
|
NM_004974.4(KCNA2):c.630C>T (p.Ile210=)
|
rs761112803
|
|
|
NM_004974.4(KCNA2):c.663T>G (p.Pro221=)
|
|
|
|
NM_004974.4(KCNA2):c.684C>T (p.Leu228=)
|
|
|
|
NM_004974.4(KCNA2):c.687C>T (p.Cys229=)
|
|
|
|
NM_004974.4(KCNA2):c.69T>C (p.Tyr23=)
|
|
|
|
NM_004974.4(KCNA2):c.711C>T (p.Phe237=)
|
rs776028782
|
|
|
NM_004974.4(KCNA2):c.717G>A (p.Val239=)
|
|
|
|
NM_004974.4(KCNA2):c.747C>T (p.Gly249=)
|
|
|
|
NM_004974.4(KCNA2):c.789C>A (p.Ile263=)
|
rs2101399331
|
|
|
NM_004974.4(KCNA2):c.808C>T (p.Leu270=)
|
|
|
|
NM_004974.4(KCNA2):c.851G>A (p.Gly284Asp)
|
rs1246925002
|
|
|
NM_004974.4(KCNA2):c.852C>A (p.Gly284=)
|
rs779997835
|
|
|
NM_004974.4(KCNA2):c.87C>T (p.His29=)
|
rs2101404284
|
|
|
NM_004974.4(KCNA2):c.888C>T (p.Ile296=)
|
|
|
|
NM_004974.4(KCNA2):c.891G>C (p.Arg297=)
|
|
|
|
NM_004974.4(KCNA2):c.918G>A (p.Lys306=)
|
|
|
|
NM_004974.4(KCNA2):c.933C>T (p.Ser311=)
|
rs1649470586
|
|
|
NM_004974.4(KCNA2):c.939T>C (p.Gly313=)
|
|
|
|
NM_004974.4(KCNA2):c.957G>A (p.Gln319=)
|
rs2101398216
|
|
|
NM_004974.4(KCNA2):c.960C>G (p.Thr320=)
|
|
|
|
NM_004974.4(KCNA2):c.982T>C (p.Leu328=)
|
|
|
|
NM_004974.4(KCNA2):c.991C>T (p.Leu331=)
|
rs2101397993
|
|
|
NM_004975.4(KCNB1):c.1000C>T (p.Leu334Phe)
|
|
|
|
NM_004975.4(KCNB1):c.1002C>G (p.Leu334=)
|
|
|
|
NM_004975.4(KCNB1):c.102C>T (p.Arg34=)
|
rs2122803849
|
|
|
NM_004975.4(KCNB1):c.1062G>A (p.Lys354=)
|
|
|
|
NM_004975.4(KCNB1):c.1080G>A (p.Lys360=)
|
|
|
|
NM_004975.4(KCNB1):c.108C>T (p.Asn36=)
|
|
|
|
NM_004975.4(KCNB1):c.1119C>T (p.Ile373=)
|
rs2146813780
|
|
|
NM_004975.4(KCNB1):c.1137G>A (p.Gly379=)
|
rs372561609
|
|
|
NM_004975.4(KCNB1):c.1146C>T (p.Asp382=)
|
|
|
|
NM_004975.4(KCNB1):c.1161T>C (p.Thr387=)
|
rs1984247753
|
|
|
NM_004975.4(KCNB1):c.1170G>A (p.Gly390=)
|
|
|
|
NM_004975.4(KCNB1):c.1206C>G (p.Val402=)
|
rs2146813631
|
|
|
NM_004975.4(KCNB1):c.1218T>C (p.Ala406=)
|
|
|
|
NM_004975.4(KCNB1):c.1236C>T (p.Ile412=)
|
|
|
|
NM_004975.4(KCNB1):c.1288A>G (p.Ile430Val)
|
|
|
|
NM_004975.4(KCNB1):c.12C>T (p.Gly4=)
|
|
|
|
NM_004975.4(KCNB1):c.1338A>T (p.Val446=)
|
rs2146813471
|
|
|
NM_004975.4(KCNB1):c.1343T>C (p.Met448Thr)
|
rs1984239884
|
|
|
NM_004975.4(KCNB1):c.1344G>A (p.Met448Ile)
|
rs1984239766
|
|
|
NM_004975.4(KCNB1):c.1347C>T (p.Asn449=)
|
|
|
|
NM_004975.4(KCNB1):c.1393G>A (p.Val465Ile)
|
rs1294696493
|
|
|
NM_004975.4(KCNB1):c.1401A>T (p.Lys467Asn)
|
|
|
|
NM_004975.4(KCNB1):c.1418G>A (p.Gly473Asp)
|
|
|
|
NM_004975.4(KCNB1):c.1485G>A (p.Leu495=)
|
|
|
|
NM_004975.4(KCNB1):c.1518C>G (p.Thr506=)
|
|
|
|
NM_004975.4(KCNB1):c.1545C>T (p.Ala515=)
|
rs2146813194
|
|
|
NM_004975.4(KCNB1):c.154C>T (p.Leu52=)
|
|
|
|
NM_004975.4(KCNB1):c.1575C>T (p.Asn525=)
|
|
|
|
NM_004975.4(KCNB1):c.1581G>A (p.Gln527=)
|
|
|
|
NM_004975.4(KCNB1):c.1593C>T (p.Asp531=)
|
|
|
|
NM_004975.4(KCNB1):c.1597T>C (p.Tyr533His)
|
rs1984228232
|
|
|
NM_004975.4(KCNB1):c.1617C>T (p.Thr539=)
|
rs2146813087
|
|
|
NM_004975.4(KCNB1):c.1629C>T (p.Pro543=)
|
|
|
|
NM_004975.4(KCNB1):c.1641C>T (p.Thr547=)
|
rs1490389656
|
|
|
NM_004975.4(KCNB1):c.1692T>C (p.Ser564=)
|
rs2146812969
|
|
|
NM_004975.4(KCNB1):c.1704C>G (p.Pro568=)
|
rs539550218
|
|
|
NM_004975.4(KCNB1):c.1704C>T (p.Pro568=)
|
rs539550218
|
|
|
NM_004975.4(KCNB1):c.1738A>G (p.Ile580Val)
|
|
|
|
NM_004975.4(KCNB1):c.1748G>A (p.Arg583Gln)
|
|
|
|
NM_004975.4(KCNB1):c.1800G>A (p.Glu600=)
|
rs1290919811
|
|
|
NM_004975.4(KCNB1):c.1839C>T (p.Pro613=)
|
|
|
|
NM_004975.4(KCNB1):c.183C>T (p.Arg61=)
|
|
|
|
NM_004975.4(KCNB1):c.1851G>A (p.Gly617=)
|
rs2146812770
|
|
|
NM_004975.4(KCNB1):c.1863C>T (p.Ala621=)
|
rs2146812733
|
|
|
NM_004975.4(KCNB1):c.1869A>G (p.Glu623=)
|
|
|
|
NM_004975.4(KCNB1):c.1879_1880delinsTT (p.Arg627Leu)
|
rs2146812716
|
|
|
NM_004975.4(KCNB1):c.1883G>A (p.Gly628Glu)
|
|
|
|
NM_004975.4(KCNB1):c.1891G>A (p.Gly631Ser)
|
|
|
|
NM_004975.4(KCNB1):c.1891G>T (p.Gly631Cys)
|
rs1433173706
|
|
|
NM_004975.4(KCNB1):c.1896C>T (p.Ala632=)
|
rs1420669551
|
|
|
NM_004975.4(KCNB1):c.1926C>T (p.Pro642=)
|
|
|
|
NM_004975.4(KCNB1):c.1951A>G (p.Ser651Gly)
|
|
|
|
NM_004975.4(KCNB1):c.1971del (p.Lys658fs)
|
|
|
|
NM_004975.4(KCNB1):c.1973A>G (p.Lys658Arg)
|
|
|
|
NM_004975.4(KCNB1):c.2008C>T (p.Arg670Ter)
|
rs1984206797
|
|
|
NM_004975.4(KCNB1):c.203C>A (p.Ser68Ter)
|
|
|
|
NM_004975.4(KCNB1):c.2040C>T (p.Asp680=)
|
|
|
|
NM_004975.4(KCNB1):c.2067G>T (p.Gly689=)
|
|
|
|
NM_004975.4(KCNB1):c.2096G>A (p.Gly699Glu)
|
|
|
|
NM_004975.4(KCNB1):c.2097G>T (p.Gly699=)
|
rs749718924
|
|
|
NM_004975.4(KCNB1):c.2103T>C (p.Ala701=)
|
|
|
|
NM_004975.4(KCNB1):c.2116G>T (p.Ala706Ser)
|
rs779750227
|
|
|
NM_004975.4(KCNB1):c.2118T>C (p.Ala706=)
|
rs2146812300
|
|
|
NM_004975.4(KCNB1):c.2124G>A (p.Leu708=)
|
rs1207155153
|
|
|
NM_004975.4(KCNB1):c.2129G>A (p.Cys710Tyr)
|
|
|
|
NM_004975.4(KCNB1):c.2151T>C (p.Ala717=)
|
rs2146812219
|
|
|
NM_004975.4(KCNB1):c.2201C>G (p.Pro734Arg)
|
|
|
|
NM_004975.4(KCNB1):c.2201C>T (p.Pro734Leu)
|
|
|
|
NM_004975.4(KCNB1):c.2202C>A (p.Pro734=)
|
|
|
|
NM_004975.4(KCNB1):c.2206C>A (p.Arg736=)
|
|
|
|
NM_004975.4(KCNB1):c.2235G>A (p.Ala745=)
|
|
|
|
NM_004975.4(KCNB1):c.2238C>T (p.Phe746=)
|
|
|
|
NM_004975.4(KCNB1):c.2250G>C (p.Ala750=)
|
rs368736609
|
|
|
NM_004975.4(KCNB1):c.2267T>C (p.Ile756Thr)
|
rs1239521037
|
|
|
NM_004975.4(KCNB1):c.2274A>T (p.Ala758=)
|
|
|
|
NM_004975.4(KCNB1):c.228C>T (p.Tyr76=)
|
|
|
|
NM_004975.4(KCNB1):c.2298G>C (p.Leu766=)
|
|
|
|
NM_004975.4(KCNB1):c.2312A>T (p.Asp771Val)
|
rs1304300872
|
|
|
NM_004975.4(KCNB1):c.2313C>T (p.Asp771=)
|
|
|
|
NM_004975.4(KCNB1):c.2319C>T (p.Ser773=)
|
|
|
|
NM_004975.4(KCNB1):c.2324C>G (p.Pro775Arg)
|
rs530927636
|
|
|
NM_004975.4(KCNB1):c.2324C>T (p.Pro775Leu)
|
|
|
|
NM_004975.4(KCNB1):c.2325C>G (p.Pro775=)
|
rs778951965
|
|
|
NM_004975.4(KCNB1):c.2330G>T (p.Ser777Ile)
|
|
|
|
NM_004975.4(KCNB1):c.2340G>A (p.Gly780=)
|
rs1410171749
|
|
|
NM_004975.4(KCNB1):c.2370A>G (p.Thr790=)
|
rs1411571280
|
|
|
NM_004975.4(KCNB1):c.2412C>A (p.Thr804=)
|
rs1984177695
|
|
|
NM_004975.4(KCNB1):c.2415C>T (p.Ser805=)
|
rs2146811802
|
|
|
NM_004975.4(KCNB1):c.243C>T (p.Asn81=)
|
rs1295557969
|
|
|
NM_004975.4(KCNB1):c.244G>A (p.Glu82Lys)
|
|
|
|
NM_004975.4(KCNB1):c.2529G>A (p.Val843=)
|
rs1233867057
|
|
|
NM_004975.4(KCNB1):c.2538G>A (p.Gly846=)
|
|
|
|
NM_004975.4(KCNB1):c.2540G>C (p.Gly847Ala)
|
|
|
|
NM_004975.4(KCNB1):c.2553A>G (p.Gly851=)
|
|
|
|
NM_004975.4(KCNB1):c.2556C>T (p.Ser852=)
|
rs2146811529
|
|
|
NM_004975.4(KCNB1):c.264C>T (p.His88=)
|
|
|
|
NM_004975.4(KCNB1):c.267G>A (p.Pro89=)
|
|
|
|
NM_004975.4(KCNB1):c.270C>A (p.Gly90=)
|
|
|
|
NM_004975.4(KCNB1):c.270C>T (p.Gly90=)
|
|
|
|
NM_004975.4(KCNB1):c.315C>T (p.His105=)
|
rs775196693
|
|
|
NM_004975.4(KCNB1):c.336G>A (p.Ala112=)
|
|
|
|
NM_004975.4(KCNB1):c.336G>T (p.Ala112=)
|
|
|
|
NM_004975.4(KCNB1):c.33C>A (p.Arg11=)
|
rs943931190
|
|
|
NM_004975.4(KCNB1):c.357C>G (p.Leu119=)
|
rs773968834
|
|
|
NM_004975.4(KCNB1):c.357C>T (p.Leu119=)
|
rs773968834
|
|
|
NM_004975.4(KCNB1):c.372C>T (p.Ile124=)
|
rs147498424
|
|
|
NM_004975.4(KCNB1):c.426G>A (p.Glu142=)
|
rs1440280154
|
|
|
NM_004975.4(KCNB1):c.456C>G (p.Ala152=)
|
|
|
|
NM_004975.4(KCNB1):c.45G>C (p.Ser15=)
|
rs1980529873
|
|
|
NM_004975.4(KCNB1):c.461C>T (p.Thr154Ile)
|
rs1980513297
|
|
|
NM_004975.4(KCNB1):c.466C>A (p.Arg156=)
|
|
|
|
NM_004975.4(KCNB1):c.472C>A (p.Arg158=)
|
rs1278790809
|
|
|
NM_004975.4(KCNB1):c.474G>C (p.Arg158=)
|
|
|
|
NM_004975.4(KCNB1):c.477A>G (p.Glu159=)
|
rs984041865
|
|
|
NM_004975.4(KCNB1):c.489C>T (p.Phe163=)
|
rs767078520
|
|
|
NM_004975.4(KCNB1):c.505G>A (p.Ala169Thr)
|
|
|
|
NM_004975.4(KCNB1):c.537G>T (p.Leu179=)
|
|
|
|
NM_004975.4(KCNB1):c.567+12A>T
|
rs2122803009
|
|
|
NM_004975.4(KCNB1):c.567+8T>G
|
|
|
|
NM_004975.4(KCNB1):c.568-10C>T
|
rs1601072100
|
|
|
NM_004975.4(KCNB1):c.5C>A (p.Pro2Gln)
|
|
|
|
NM_004975.4(KCNB1):c.603C>T (p.Leu201=)
|
|
|
|
NM_004975.4(KCNB1):c.606C>T (p.Ser202=)
|
rs2146814354
|
|
|
NM_004975.4(KCNB1):c.615C>T (p.Ala205=)
|
rs1601072012
|
|
|
NM_004975.4(KCNB1):c.648C>T (p.Ser216=)
|
|
|
|
NM_004975.4(KCNB1):c.651C>G (p.Leu217=)
|
|
|
|
NM_004975.4(KCNB1):c.666G>A (p.Gln222=)
|
|
|
|
NM_004975.4(KCNB1):c.66G>A (p.Glu22=)
|
rs745635029
|
|
|
NM_004975.4(KCNB1):c.6G>A (p.Pro2=)
|
|
|
|
NM_004975.4(KCNB1):c.702C>G (p.Ala234=)
|
rs753634361
|
|
|
NM_004975.4(KCNB1):c.729G>A (p.Glu243=)
|
rs2146814204
|
|
|
NM_004975.4(KCNB1):c.72G>A (p.Val24=)
|
|
|
|
NM_004975.4(KCNB1):c.732C>T (p.Tyr244=)
|
|
|
|
NM_004975.4(KCNB1):c.750C>T (p.Ser250=)
|
rs2146814173
|
|
|
NM_004975.4(KCNB1):c.753G>A (p.Ser251=)
|
|
|
|
NM_004975.4(KCNB1):c.789T>C (p.Asn263=)
|
|
|
|
NM_004975.4(KCNB1):c.790G>A (p.Ala264Thr)
|
|
|
|
NM_004975.4(KCNB1):c.813G>A (p.Leu271=)
|
rs763166574
|
|
|
NM_004975.4(KCNB1):c.816A>G (p.Pro272=)
|
|
|
|
NM_004975.4(KCNB1):c.819C>T (p.Tyr273=)
|
rs2146814097
|
|
|
NM_004975.4(KCNB1):c.822T>C (p.Tyr274=)
|
|
|
|
NM_004975.4(KCNB1):c.831T>C (p.Ile277=)
|
|
|
|
NM_004975.4(KCNB1):c.864A>G (p.Gln288=)
|
rs2146814058
|
|
|
NM_004975.4(KCNB1):c.92G>C (p.Arg31Pro)
|
rs2122803896
|
|
|
NM_004975.4(KCNB1):c.939C>T (p.His313=)
|
rs1304387636
|
|
|
NM_004975.4(KCNB1):c.990G>A (p.Glu330=)
|
rs1131691489
|
|
|
NM_004975.4(KCNB1):c.996C>T (p.Gly332=)
|
|
|
|
NM_005249.5(FOXG1):c.1020C>T (p.Pro340=)
|
rs2138661885
|
|
|
NM_005249.5(FOXG1):c.1032G>C (p.Val344=)
|
rs765799544
|
|
|
NM_005249.5(FOXG1):c.1040A>C (p.Gln347Pro)
|
|
|
|
NM_005249.5(FOXG1):c.105G>T (p.Ala35=)
|
rs753859771
|
|
|
NM_005249.5(FOXG1):c.1065C>G (p.Ser355=)
|
rs1566445761
|
|
|
NM_005249.5(FOXG1):c.1065C>T (p.Ser355=)
|
|
|
|
NM_005249.5(FOXG1):c.1071C>T (p.Ser357=)
|
|
|
|
NM_005249.5(FOXG1):c.1081G>A (p.Gly361Ser)
|
|
|
|
NM_005249.5(FOXG1):c.1084C>T (p.Leu362=)
|
|
|
|
NM_005249.5(FOXG1):c.1092G>C (p.Val364=)
|
rs989920390
|
|
|
NM_005249.5(FOXG1):c.1098G>T (p.Arg366=)
|
|
|
|
NM_005249.5(FOXG1):c.111C>T (p.His37=)
|
rs1594382784
|
|
|
NM_005249.5(FOXG1):c.1123G>A (p.Ala375Thr)
|
rs1594384127
|
|
|
NM_005249.5(FOXG1):c.1143C>T (p.Ala381=)
|
|
|
|
NM_005249.5(FOXG1):c.1152A>G (p.Leu384=)
|
|
|
|
NM_005249.5(FOXG1):c.1155C>T (p.Ala385=)
|
|
|
|
NM_005249.5(FOXG1):c.115CAC[1] (p.His40del)
|
rs756685121
|
|
|
NM_005249.5(FOXG1):c.1161G>C (p.Ser387=)
|
|
|
|
NM_005249.5(FOXG1):c.1161G>T (p.Ser387=)
|
rs147154860
|
|
|
NM_005249.5(FOXG1):c.1173C>T (p.Gly391=)
|
rs1254397358
|
|
|
NM_005249.5(FOXG1):c.1179G>C (p.Ser393=)
|
rs2138662065
|
|
|
NM_005249.5(FOXG1):c.1227G>A (p.Leu409=)
|
|
|
|
NM_005249.5(FOXG1):c.131A>G (p.His44Arg)
|
rs1555321183
|
|
|
NM_005249.5(FOXG1):c.1320C>G (p.Ser440=)
|
rs1057524328
|
|
|
NM_005249.5(FOXG1):c.1329G>T (p.Thr443=)
|
rs763407540
|
|
|
NM_005249.5(FOXG1):c.132C>A (p.His44Gln)
|
rs796052446
|
|
|
NM_005249.5(FOXG1):c.1332G>T (p.Ser444=)
|
|
|
|
NM_005249.5(FOXG1):c.134_160del (p.Pro45_His53del)
|
|
|
|
NM_005249.5(FOXG1):c.1374C>T (p.Pro458=)
|
|
|
|
NM_005249.5(FOXG1):c.1376C>G (p.Ser459Cys)
|
rs1566445990
|
|
|
NM_005249.5(FOXG1):c.1395G>A (p.Thr465=)
|
rs369183477
|
|
|
NM_005249.5(FOXG1):c.1401G>C (p.Leu467=)
|
rs746997498
|
|
|
NM_005249.5(FOXG1):c.1409G>T (p.Gly470Val)
|
|
|
|
NM_005249.5(FOXG1):c.1411C>T (p.Leu471=)
|
rs755084543
|
|
|
NM_005249.5(FOXG1):c.141CCA[3] (p.His54_His57del)
|
|
|
|
NM_005249.5(FOXG1):c.141CCA[4] (p.His55_His57del)
|
rs587783630
|
|
|
NM_005249.5(FOXG1):c.141CCA[5] (p.His56_His57del)
|
rs587783630
|
|
|
NM_005249.5(FOXG1):c.141CCA[8] (p.His57dup)
|
rs587783630
|
|
|
NM_005249.5(FOXG1):c.141CCA[9] (p.His56_His57dup)
|
rs587783630
|
|
|
NM_005249.5(FOXG1):c.1425C>T (p.Phe475=)
|
|
|
|
NM_005249.5(FOXG1):c.1449T>C (p.Ser483=)
|
|
|
|
NM_005249.5(FOXG1):c.1458T>C (p.Pro486=)
|
rs2138662412
|
|
|
NM_005249.5(FOXG1):c.153C>T (p.His51=)
|
|
|
|
NM_005249.5(FOXG1):c.162_167del (p.His56_His57del)
|
|
|
|
NM_005249.5(FOXG1):c.164ACC[1] (p.His56_His57del)
|
|
|
|
NM_005249.5(FOXG1):c.164ACC[4] (p.His57dup)
|
rs772407998
|
|
|
NM_005249.5(FOXG1):c.164ACC[5] (p.His56_His57dup)
|
rs772407998
|
|
|
NM_005249.5(FOXG1):c.168C>T (p.His56=)
|
rs2138660188
|
|
|
NM_005249.5(FOXG1):c.173C>T (p.Pro58Leu)
|
rs2138660206
|
|
|
NM_005249.5(FOXG1):c.180G>C (p.Pro60=)
|
rs1555321214
|
|
|
NM_005249.5(FOXG1):c.182_208del (p.Pro61_Pro69del)
|
rs796052450
|
|
|
NM_005249.5(FOXG1):c.183_206del (p.Ala62_Pro69del)
|
rs587783632
|
|
|
NM_005249.5(FOXG1):c.192_218del (p.Gln70_Pro78del)
|
|
|
|
NM_005249.5(FOXG1):c.194CGC[3] (p.Pro68_Pro69del)
|
rs761703699
|
|
|
NM_005249.5(FOXG1):c.194CGC[6] (p.Pro69dup)
|
rs761703699
|
|
|
NM_005249.5(FOXG1):c.194CGC[7] (p.Pro68_Pro69dup)
|
rs761703699
|
|
|
NM_005249.5(FOXG1):c.194_214del (p.Pro65_Gln71del)
|
|
|
|
NM_005249.5(FOXG1):c.195G>T (p.Pro65=)
|
rs774144312
|
|
|
NM_005249.5(FOXG1):c.196C>G (p.Pro66Ala)
|
rs1881782398
|
|
|
NM_005249.5(FOXG1):c.204_236del (p.Gln70_Pro80del)
|
rs1064794158
|
|
|
NM_005249.5(FOXG1):c.207G>A (p.Pro69=)
|
rs2138660343
|
|
|
NM_005249.5(FOXG1):c.207G>C (p.Pro69=)
|
rs2138660343
|
|
|
NM_005249.5(FOXG1):c.207_236del (p.Gln70_Pro79del)
|
rs1064794158
|
|
|
NM_005249.5(FOXG1):c.209AGC[2] (p.Gln72_Gln73del)
|
rs398124201
|
|
|
NM_005249.5(FOXG1):c.209AGC[3] (p.Gln73del)
|
rs398124201
|
|
|
NM_005249.5(FOXG1):c.209AGC[5] (p.Gln73dup)
|
rs398124201
|
|
|
NM_005249.5(FOXG1):c.209AGC[6] (p.Gln73_Pro74insGlnGln)
|
|
|
|
NM_005249.5(FOXG1):c.209_226del (p.Gln70_Pro75del)
|
|
|
|
NM_005249.5(FOXG1):c.209_226dup (p.Gln70_Pro75dup)
|
rs1212538894
|
|
|
NM_005249.5(FOXG1):c.209_229del (p.Gln70_Pro76del)
|
rs1466028633
|
|
|
NM_005249.5(FOXG1):c.209_232del (p.Gln70_Pro77del)
|
rs794726920
|
|
|
NM_005249.5(FOXG1):c.209_235del (p.Gln70_Pro78del)
|
rs587783634
|
|
|
NM_005249.5(FOXG1):c.209_235dup (p.Gln70_Pro78dup)
|
rs587783634
|
|
|
NM_005249.5(FOXG1):c.219GCC[3] (p.Pro78_Pro80del)
|
rs786200975
|
|
|
NM_005249.5(FOXG1):c.219GCC[5] (p.Pro80del)
|
rs786200975
|
|
|
NM_005249.5(FOXG1):c.219GCC[8] (p.Pro79_Pro80dup)
|
rs786200975
|
|
|
NM_005249.5(FOXG1):c.222G>A (p.Pro74=)
|
|
|
|
NM_005249.5(FOXG1):c.233_247del (p.Pro78_Pro82del)
|
rs1466765630
|
|
|
NM_005249.5(FOXG1):c.234G>A (p.Pro78=)
|
|
|
|
NM_005249.5(FOXG1):c.246G>C (p.Pro82=)
|
rs1555321242
|
|
|
NM_005249.5(FOXG1):c.261G>A (p.Thr87=)
|
rs1432053269
|
|
|
NM_005249.5(FOXG1):c.279C>G (p.Ala93=)
|
rs2138660543
|
|
|
NM_005249.5(FOXG1):c.280GAC[2] (p.Asp96del)
|
rs1318259337
|
|
|
NM_005249.5(FOXG1):c.287A>G (p.Asp96Gly)
|
rs1384097436
|
|
|
NM_005249.5(FOXG1):c.312C>G (p.Leu104=)
|
rs1335648253
|
|
|
NM_005249.5(FOXG1):c.312C>T (p.Leu104=)
|
rs1335648253
|
|
|
NM_005249.5(FOXG1):c.313_314insAGCCGC (p.Leu104_Pro105insGlnPro)
|
rs1004546223
|
|
|
NM_005249.5(FOXG1):c.315GCC[5] (p.Pro111_Pro112dup)
|
rs1319234983
|
|
|
NM_005249.5(FOXG1):c.315_323del (p.Pro110_Pro112del)
|
rs1319234983
|
|
|
NM_005249.5(FOXG1):c.321G>A (p.Pro107=)
|
rs1384634545
|
|
|
NM_005249.5(FOXG1):c.328_336dup (p.Pro112_Ala113insProProPro)
|
|
|
|
NM_005249.5(FOXG1):c.339C>T (p.Ala113=)
|
rs1594383225
|
|
|
NM_005249.5(FOXG1):c.347T>C (p.Leu116Pro)
|
rs1594383240
|
|
|
NM_005249.5(FOXG1):c.351C>T (p.Asp117=)
|
rs2138660674
|
|
|
NM_005249.5(FOXG1):c.354G>C (p.Gly118=)
|
|
|
|
NM_005249.5(FOXG1):c.375C>A (p.Gly125=)
|
rs1239018500
|
|
|
NM_005249.5(FOXG1):c.390G>A (p.Pro130=)
|
rs953218878
|
|
|
NM_005249.5(FOXG1):c.39C>T (p.Ile13=)
|
rs1322636276
|
|
|
NM_005249.5(FOXG1):c.405G>A (p.Gly135=)
|
rs1881793401
|
|
|
NM_005249.5(FOXG1):c.411G>A (p.Leu137=)
|
|
|
|
NM_005249.5(FOXG1):c.414G>T (p.Ala138=)
|
|
|
|
NM_005249.5(FOXG1):c.417C>G (p.Pro139=)
|
|
|
|
NM_005249.5(FOXG1):c.417C>T (p.Pro139=)
|
rs1018810212
|
|
|
NM_005249.5(FOXG1):c.420C>T (p.Val140=)
|
rs967306759
|
|
|
NM_005249.5(FOXG1):c.423G>T (p.Gly141=)
|
|
|
|
NM_005249.5(FOXG1):c.431AGAAGG[3] (p.144EK[3])
|
rs1594383335
|
|
|
NM_005249.5(FOXG1):c.433_435del (p.Lys145del)
|
|
|
|
NM_005249.5(FOXG1):c.447C>G (p.Ala149=)
|
rs112803404
|
|
|
NM_005249.5(FOXG1):c.453C>T (p.Ala151=)
|
|
|
|
NM_005249.5(FOXG1):c.456G>A (p.Gly152=)
|
|
|
|
NM_005249.5(FOXG1):c.456G>C (p.Gly152=)
|
rs587783637
|
|
|
NM_005249.5(FOXG1):c.459G>T (p.Gly153=)
|
rs1057520968
|
|
|
NM_005249.5(FOXG1):c.462G>A (p.Glu154=)
|
rs1881797612
|
|
|
NM_005249.5(FOXG1):c.471G>A (p.Lys157=)
|
rs398124205
|
|
|
NM_005249.5(FOXG1):c.477G>A (p.Ala159=)
|
rs1057523583
|
|
|
NM_005249.5(FOXG1):c.480C>A (p.Gly160=)
|
rs1881798461
|
|
|
NM_005249.5(FOXG1):c.498G>C (p.Gly166=)
|
rs764054659
|
|
|
NM_005249.5(FOXG1):c.537C>T (p.Tyr179=)
|
|
|
|
NM_005249.5(FOXG1):c.543G>A (p.Lys181=)
|
|
|
|
NM_005249.5(FOXG1):c.546G>C (p.Pro182=)
|
|
|
|
NM_005249.5(FOXG1):c.549G>A (p.Pro183=)
|
rs756638761
|
|
|
NM_005249.5(FOXG1):c.564G>A (p.Ala188=)
|
rs2138661148
|
|
|
NM_005249.5(FOXG1):c.567C>T (p.Leu189=)
|
rs748766934
|
|
|
NM_005249.5(FOXG1):c.594C>A (p.Pro198=)
|
rs141088742
|
|
|
NM_005249.5(FOXG1):c.603G>C (p.Arg201=)
|
rs1190548071
|
|
|
NM_005249.5(FOXG1):c.606C>G (p.Leu202=)
|
rs201191801
|
|
|
NM_005249.5(FOXG1):c.624C>T (p.Tyr208=)
|
|
|
|
NM_005249.5(FOXG1):c.642C>T (p.Asn214=)
|
rs1594383652
|
|
|
NM_005249.5(FOXG1):c.645C>T (p.Phe215=)
|
|
|
|
NM_005249.5(FOXG1):c.648T>A (p.Pro216=)
|
rs2138661298
|
|
|
NM_005249.5(FOXG1):c.651C>T (p.Tyr217=)
|
|
|
|
NM_005249.5(FOXG1):c.657C>G (p.Arg219=)
|
rs768525699
|
|
|
NM_005249.5(FOXG1):c.660G>A (p.Glu220=)
|
rs1594383673
|
|
|
NM_005249.5(FOXG1):c.696T>C (p.Asn232=)
|
rs1318109244
|
|
|
NM_005249.5(FOXG1):c.699G>C (p.Leu233=)
|
rs2138661396
|
|
|
NM_005249.5(FOXG1):c.699G>T (p.Leu233=)
|
rs2138661396
|
|
|
NM_005249.5(FOXG1):c.702C>T (p.Ser234=)
|
rs2138661407
|
|
|
NM_005249.5(FOXG1):c.708C>T (p.Asn236=)
|
rs796052468
|
|
|
NM_005249.5(FOXG1):c.714C>T (p.Cys238=)
|
|
|
|
NM_005249.5(FOXG1):c.717C>T (p.Phe239=)
|
|
|
|
NM_005249.5(FOXG1):c.720G>A (p.Val240=)
|
rs1341376059
|
|
|
NM_005249.5(FOXG1):c.720G>C (p.Val240=)
|
rs1341376059
|
|
|
NM_005249.5(FOXG1):c.729G>C (p.Pro243=)
|
rs774525510
|
|
|
NM_005249.5(FOXG1):c.750C>T (p.Gly250=)
|
|
|
|
NM_005249.5(FOXG1):c.753G>A (p.Lys251=)
|
rs2138661469
|
|
|
NM_005249.5(FOXG1):c.777G>T (p.Pro259=)
|
rs1228133511
|
|
|
NM_005249.5(FOXG1):c.783C>T (p.Ser261=)
|
|
|
|
NM_005249.5(FOXG1):c.78G>A (p.Glu26=)
|
rs2138659953
|
|
|
NM_005249.5(FOXG1):c.798C>T (p.Ile266=)
|
rs753051078
|
|
|
NM_005249.5(FOXG1):c.801C>A (p.Gly267=)
|
rs1283306011
|
|
|
NM_005249.5(FOXG1):c.803G>T (p.Gly268Val)
|
rs2138661568
|
|
|
NM_005249.5(FOXG1):c.810G>C (p.Thr270=)
|
|
|
|
NM_005249.5(FOXG1):c.837C>G (p.Thr279=)
|
rs570340475
|
|
|
NM_005249.5(FOXG1):c.843G>A (p.Arg281=)
|
|
|
|
NM_005249.5(FOXG1):c.849G>A (p.Lys283=)
|
|
|
|
NM_005249.5(FOXG1):c.864C>G (p.Arg288=)
|
|
|
|
NM_005249.5(FOXG1):c.864C>T (p.Arg288=)
|
|
|
|
NM_005249.5(FOXG1):c.885C>T (p.Thr295=)
|
|
|
|
NM_005249.5(FOXG1):c.887G>T (p.Gly296Val)
|
rs1881811654
|
|
|
NM_005249.5(FOXG1):c.915C>T (p.Ser305=)
|
rs746727507
|
|
|
NM_005249.5(FOXG1):c.921C>T (p.Tyr307=)
|
rs2138661742
|
|
|
NM_005249.5(FOXG1):c.933G>T (p.Ser311=)
|
rs1481653005
|
|
|
NM_005249.5(FOXG1):c.942G>C (p.Leu314=)
|
rs2138661774
|
|
|
NM_005249.5(FOXG1):c.945C>T (p.Ser315=)
|
|
|
|
NM_005249.5(FOXG1):c.953A>T (p.His318Leu)
|
rs2138661790
|
|
|
NM_005249.5(FOXG1):c.95A>G (p.Asn32Ser)
|
rs1429160286
|
|
|
NM_005249.5(FOXG1):c.993G>A (p.Thr331=)
|
rs772352099
|
|
|
NM_006030.4(CACNA2D2):c.102G>A (p.Arg34=)
|
rs2107205604
|
|
|
NM_006030.4(CACNA2D2):c.1033C>T (p.Leu345=)
|
rs2106661677
|
|
|
NM_006030.4(CACNA2D2):c.1044C>T (p.Ala348=)
|
rs2106661632
|
|
|
NM_006030.4(CACNA2D2):c.1053C>A (p.Arg351=)
|
|
|
|
NM_006030.4(CACNA2D2):c.1062G>A (p.Lys354=)
|
rs2106661474
|
|
|
NM_006030.4(CACNA2D2):c.1144C>T (p.Leu382=)
|
rs2106661027
|
|
|
NM_006030.4(CACNA2D2):c.1146G>T (p.Leu382=)
|
|
|
|
NM_006030.4(CACNA2D2):c.1152+10A>G
|
rs2106660953
|
|
|
NM_006030.4(CACNA2D2):c.1152+7C>T
|
|
|
|
NM_006030.4(CACNA2D2):c.1170C>G (p.Ala390=)
|
rs1413955767
|
|
|
NM_006030.4(CACNA2D2):c.1212G>A (p.Glu404=)
|
rs752536418
|
|
|
NM_006030.4(CACNA2D2):c.1218C>T (p.Arg406=)
|
|
|
|
NM_006030.4(CACNA2D2):c.1245T>C (p.Asn415=)
|
rs1575602301
|
|
|
NM_006030.4(CACNA2D2):c.1260+13C>G
|
rs1286791407
|
|
|
NM_006030.4(CACNA2D2):c.1260+13C>T
|
|
|
|
NM_006030.4(CACNA2D2):c.1260+14G>A
|
|
|
|
NM_006030.4(CACNA2D2):c.1260+14G>C
|
rs587694555
|
|
|
NM_006030.4(CACNA2D2):c.1260+19A>C
|
|
|
|
NM_006030.4(CACNA2D2):c.1261-10C>G
|
|
|
|
NM_006030.4(CACNA2D2):c.1261-10C>T
|
rs913653302
|
|
|
NM_006030.4(CACNA2D2):c.1261-16C>T
|
rs945121725
|
|
|
NM_006030.4(CACNA2D2):c.1261-17C>T
|
|
|
|
NM_006030.4(CACNA2D2):c.1261-5C>G
|
|
|
|
NM_006030.4(CACNA2D2):c.1261-5C>T
|
|
|
|
NM_006030.4(CACNA2D2):c.1261-6C>T
|
rs2106657990
|
|
|
NM_006030.4(CACNA2D2):c.1266C>T (p.Arg422=)
|
|
|
|
NM_006030.4(CACNA2D2):c.1281C>A (p.Ser427=)
|
|
|
|
NM_006030.4(CACNA2D2):c.12G>C (p.Pro4=)
|
rs1575799274
|
|
|
NM_006030.4(CACNA2D2):c.1311G>A (p.Pro437=)
|
rs751421251
|
|
|
NM_006030.4(CACNA2D2):c.1311G>T (p.Pro437=)
|
rs751421251
|
|
|
NM_006030.4(CACNA2D2):c.1339+10C>T
|
|
|
|
NM_006030.4(CACNA2D2):c.1339+13C>T
|
|
|
|
NM_006030.4(CACNA2D2):c.1339+14G>T
|
rs202140446
|
|
|
NM_006030.4(CACNA2D2):c.1339+16A>G
|
|
|
|
NM_006030.4(CACNA2D2):c.1339+20C>T
|
|
|
|
NM_006030.4(CACNA2D2):c.1340-19G>C
|
|
|
|
NM_006030.4(CACNA2D2):c.1359T>C (p.Pro453=)
|
|
|
|
NM_006030.4(CACNA2D2):c.136C>T (p.Leu46=)
|
|
|
|
NM_006030.4(CACNA2D2):c.1380C>T (p.Ile460=)
|
|
|
|
NM_006030.4(CACNA2D2):c.1386A>G (p.Thr462=)
|
rs2106653920
|
|
|
NM_006030.4(CACNA2D2):c.1389+3GA[3]
|
rs1060504832
|
|
|
NM_006030.4(CACNA2D2):c.1389+7C>G
|
|
|
|
NM_006030.4(CACNA2D2):c.1389+9del
|
rs1705097472
|
|
|
NM_006030.4(CACNA2D2):c.1390-9C>G
|
|
|
|
NM_006030.4(CACNA2D2):c.139C>T (p.Leu47=)
|
rs2107205386
|
|
|
NM_006030.4(CACNA2D2):c.1437G>A (p.Glu479=)
|
rs1192327116
|
|
|
NM_006030.4(CACNA2D2):c.1479+7C>G
|
|
|
|
NM_006030.4(CACNA2D2):c.147G>A (p.Pro49=)
|
rs2107205343
|
|
|
NM_006030.4(CACNA2D2):c.1480-10C>T
|
|
|
|
NM_006030.4(CACNA2D2):c.1480-19C>A
|
rs2106651067
|
|
|
NM_006030.4(CACNA2D2):c.1480-6C>T
|
rs1575600487
|
|
|
NM_006030.4(CACNA2D2):c.1480-7C>T
|
|
|
|
NM_006030.4(CACNA2D2):c.1488G>A (p.Gly496=)
|
|
|
|
NM_006030.4(CACNA2D2):c.1503G>C (p.Gly501=)
|
|
|
|
NM_006030.4(CACNA2D2):c.150T>A (p.Leu50=)
|
|
|
|
NM_006030.4(CACNA2D2):c.153A>G (p.Leu51=)
|
|
|
|
NM_006030.4(CACNA2D2):c.1551+14A>T
|
|
|
|
NM_006030.4(CACNA2D2):c.1552-13C>G
|
|
|
|
NM_006030.4(CACNA2D2):c.1552-5C>T
|
|
|
|
NM_006030.4(CACNA2D2):c.1552-6T>C
|
rs754805646
|
|
|
NM_006030.4(CACNA2D2):c.1584C>T (p.Asp528=)
|
|
|
|
NM_006030.4(CACNA2D2):c.159G>A (p.Leu53=)
|
|
|
|
NM_006030.4(CACNA2D2):c.1605G>A (p.Lys535=)
|
rs769113801
|
|
|
NM_006030.4(CACNA2D2):c.1626+12C>G
|
|
|
|
NM_006030.4(CACNA2D2):c.1626+9C>T
|
rs775564233
|
|
|
NM_006030.4(CACNA2D2):c.1627-16C>T
|
|
|
|
NM_006030.4(CACNA2D2):c.1627-18C>G
|
|
|
|
NM_006030.4(CACNA2D2):c.1627-6C>T
|
rs1300025016
|
|
|
NM_006030.4(CACNA2D2):c.1635C>T (p.Ala545=)
|
|
|
|
NM_006030.4(CACNA2D2):c.1665C>T (p.Asn555=)
|
rs768302184
|
|
|
NM_006030.4(CACNA2D2):c.1698C>A (p.Pro566=)
|
rs764348423
|
|
|
NM_006030.4(CACNA2D2):c.1702-17C>T
|
rs1204151334
|
|
|
NM_006030.4(CACNA2D2):c.1702-5A>C
|
rs587632370
|
|
|
NM_006030.4(CACNA2D2):c.1704C>T (p.Thr568=)
|
|
|
|
NM_006030.4(CACNA2D2):c.1737C>T (p.Phe579=)
|
rs2106641004
|
|
|
NM_006030.4(CACNA2D2):c.1746G>A (p.Ala582=)
|
rs373700024
|
|
|
NM_006030.4(CACNA2D2):c.1746G>T (p.Ala582=)
|
rs373700024
|
|
|
NM_006030.4(CACNA2D2):c.174C>T (p.Gly58=)
|
|
|
|
NM_006030.4(CACNA2D2):c.1773+8GAG[2]
|
|
|
|
NM_006030.4(CACNA2D2):c.1774-10G>A
|
rs2106640414
|
|
|
NM_006030.4(CACNA2D2):c.1794T>C (p.Asp598=)
|
rs2106640267
|
|
|
NM_006030.4(CACNA2D2):c.1809C>T (p.His603=)
|
rs775093553
|
|
|
NM_006030.4(CACNA2D2):c.1837C>T (p.Leu613=)
|
rs369541788
|
|
|
NM_006030.4(CACNA2D2):c.1839G>A (p.Leu613=)
|
|
|
|
NM_006030.4(CACNA2D2):c.1845+10C>A
|
|
|
|
NM_006030.4(CACNA2D2):c.1846-16C>T
|
|
|
|
NM_006030.4(CACNA2D2):c.1846-4C>G
|
|
|
|
NM_006030.4(CACNA2D2):c.1846-9C>G
|
|
|
|
NM_006030.4(CACNA2D2):c.1896C>T (p.Ser632=)
|
|
|
|
NM_006030.4(CACNA2D2):c.1899T>A (p.Thr633=)
|
rs2106639354
|
|
|
NM_006030.4(CACNA2D2):c.1907+11C>T
|
|
|
|
NM_006030.4(CACNA2D2):c.1907+16G>C
|
|
|
|
NM_006030.4(CACNA2D2):c.1907+17C>T
|
|
|
|
NM_006030.4(CACNA2D2):c.1907+7G>A
|
rs1553728378
|
|
|
NM_006030.4(CACNA2D2):c.1907+9G>A
|
|
|
|
NM_006030.4(CACNA2D2):c.1908-10C>A
|
rs2106637834
|
|
|
NM_006030.4(CACNA2D2):c.1908-4T>A
|
|
|
|
NM_006030.4(CACNA2D2):c.1908-6C>T
|
rs200831326
|
|
|
NM_006030.4(CACNA2D2):c.1909C>T (p.Leu637=)
|
rs1447034971
|
|
|
NM_006030.4(CACNA2D2):c.1923C>G (p.Leu641=)
|
|
|
|
NM_006030.4(CACNA2D2):c.1923C>T (p.Leu641=)
|
rs758048696
|
|
|
NM_006030.4(CACNA2D2):c.192C>T (p.Phe64=)
|
|
|
|
NM_006030.4(CACNA2D2):c.1953C>T (p.Ala651=)
|
rs2106637741
|
|
|
NM_006030.4(CACNA2D2):c.195C>G (p.Pro65=)
|
|
|
|
NM_006030.4(CACNA2D2):c.1984+14C>T
|
|
|
|
NM_006030.4(CACNA2D2):c.1984+15C>G
|
|
|
|
NM_006030.4(CACNA2D2):c.1984+17C>T
|
|
|
|
NM_006030.4(CACNA2D2):c.1984+19G>A
|
|
|
|
NM_006030.4(CACNA2D2):c.1984+7dup
|
rs2106637708
|
|
|
NM_006030.4(CACNA2D2):c.1984+8G>A
|
rs1358225188
|
|
|
NM_006030.4(CACNA2D2):c.1984+9C>A
|
|
|
|
NM_006030.4(CACNA2D2):c.1985-13G>A
|
|
|
|
NM_006030.4(CACNA2D2):c.1985-18C>A
|
|
|
|
NM_006030.4(CACNA2D2):c.1985-18C>T
|
|
|
|
NM_006030.4(CACNA2D2):c.1985-7G>A
|
|
|
|
NM_006030.4(CACNA2D2):c.1998G>C (p.Leu666=)
|
rs2109421580
|
|
|
NM_006030.4(CACNA2D2):c.2001C>T (p.Leu667=)
|
rs2109421574
|
|
|
NM_006030.4(CACNA2D2):c.2043C>T (p.Pro681=)
|
rs2109421379
|
|
|
NM_006030.4(CACNA2D2):c.2045+10G>T
|
rs371372561
|
|
|
NM_006030.4(CACNA2D2):c.2045+16C>G
|
rs921765499
|
|
|
NM_006030.4(CACNA2D2):c.2045+20G>A
|
|
|
|
NM_006030.4(CACNA2D2):c.2046-16C>T
|
|
|
|
NM_006030.4(CACNA2D2):c.2046-8A>G
|
rs1287219010
|
|
|
NM_006030.4(CACNA2D2):c.2046-9C>T
|
rs371384871
|
|
|
NM_006030.4(CACNA2D2):c.206+14G>T
|
|
|
|
NM_006030.4(CACNA2D2):c.207-10C>G
|
|
|
|
NM_006030.4(CACNA2D2):c.207-6A>T
|
|
|
|
NM_006030.4(CACNA2D2):c.2070C>T (p.Ala690=)
|
rs1704455606
|
|
|
NM_006030.4(CACNA2D2):c.2085C>G (p.Thr695=)
|
|
|
|
NM_006030.4(CACNA2D2):c.2130A>G (p.Pro710=)
|
rs1575587304
|
|
|
NM_006030.4(CACNA2D2):c.2143+12G>A
|
rs2109413051
|
|
|
NM_006030.4(CACNA2D2):c.2144-16_2144-15del
|
rs758602644
|
|
|
NM_006030.4(CACNA2D2):c.2144-19C>T
|
|
|
|
NM_006030.4(CACNA2D2):c.2144-28CACCCC[3]
|
|
|
|
NM_006030.4(CACNA2D2):c.2144-3del
|
|
|
|
NM_006030.4(CACNA2D2):c.2144-4C>T
|
|
|
|
NM_006030.4(CACNA2D2):c.2144-9C>T
|
|
|
|
NM_006030.4(CACNA2D2):c.2187C>T (p.Ile729=)
|
rs1060504833
|
|
|
NM_006030.4(CACNA2D2):c.2190G>A (p.Thr730=)
|
rs776081784
|
|
|
NM_006030.4(CACNA2D2):c.2190G>C (p.Thr730=)
|
rs776081784
|
|
|
NM_006030.4(CACNA2D2):c.2220C>T (p.Asp740=)
|
rs2109411396
|
|
|
NM_006030.4(CACNA2D2):c.2234+19G>A
|
|
|
|
NM_006030.4(CACNA2D2):c.2234+19G>T
|
|
|
|
NM_006030.4(CACNA2D2):c.2234+9C>T
|
|
|
|
NM_006030.4(CACNA2D2):c.2235-18C>A
|
|
|
|
NM_006030.4(CACNA2D2):c.2235-20C>T
|
|
|
|
NM_006030.4(CACNA2D2):c.2268C>T (p.Asp756=)
|
|
|
|
NM_006030.4(CACNA2D2):c.2274C>T (p.Gly758=)
|
rs770033061
|
|
|
NM_006030.4(CACNA2D2):c.2280C>G (p.Thr760=)
|
rs2109410526
|
|
|
NM_006030.4(CACNA2D2):c.2297+16C>G
|
|
|
|
NM_006030.4(CACNA2D2):c.2298-14C>T
|
|
|
|
NM_006030.4(CACNA2D2):c.2298-20C>T
|
|
|
|
NM_006030.4(CACNA2D2):c.2334C>T (p.Phe778=)
|
rs2109409440
|
|
|
NM_006030.4(CACNA2D2):c.2340C>T (p.Ala780=)
|
rs1575585581
|
|
|
NM_006030.4(CACNA2D2):c.2349C>T (p.Tyr783=)
|
|
|
|
NM_006030.4(CACNA2D2):c.2373T>C (p.Gly791=)
|
|
|
|
NM_006030.4(CACNA2D2):c.237G>A (p.Gln79=)
|
rs2107090444
|
|
|
NM_006030.4(CACNA2D2):c.2397G>A (p.Gln799=)
|
|
|
|
NM_006030.4(CACNA2D2):c.2401+12C>T
|
|
|
|
NM_006030.4(CACNA2D2):c.2416C>T (p.Leu806=)
|
rs1227035819
|
|
|
NM_006030.4(CACNA2D2):c.2433C>T (p.Asp811=)
|
rs907174013
|
|
|
NM_006030.4(CACNA2D2):c.2473C>T (p.Leu825=)
|
rs2109407044
|
|
|
NM_006030.4(CACNA2D2):c.2487A>G (p.Thr829=)
|
rs778441576
|
|
|
NM_006030.4(CACNA2D2):c.2496A>G (p.Pro832=)
|
|
|
|
NM_006030.4(CACNA2D2):c.2500+19G>A
|
|
|
|
NM_006030.4(CACNA2D2):c.2500+20G>A
|
|
|
|
NM_006030.4(CACNA2D2):c.2500+7G>A
|
rs2109406874
|
|
|
NM_006030.4(CACNA2D2):c.2501-11C>G
|
rs1704334349
|
|
|
NM_006030.4(CACNA2D2):c.2501-17C>T
|
|
|
|
NM_006030.4(CACNA2D2):c.2501-7C>T
|
|
|
|
NM_006030.4(CACNA2D2):c.2502G>T (p.Val834=)
|
|
|
|
NM_006030.4(CACNA2D2):c.252G>A (p.Val84=)
|
rs748779161
|
|
|
NM_006030.4(CACNA2D2):c.2559C>T (p.Ser853=)
|
rs2109406213
|
|
|
NM_006030.4(CACNA2D2):c.2577C>T (p.Asp859=)
|
rs1704327750
|
|
|
NM_006030.4(CACNA2D2):c.2589+11_2589+16dup
|
rs759053319
|
|
|
NM_006030.4(CACNA2D2):c.2589+13G>A
|
|
|
|
NM_006030.4(CACNA2D2):c.2589+17G>A
|
|
|
|
NM_006030.4(CACNA2D2):c.2589+17G>T
|
|
|
|
NM_006030.4(CACNA2D2):c.2590-15C>A
|
|
|
|
NM_006030.4(CACNA2D2):c.2590-16A>C
|
|
|
|
NM_006030.4(CACNA2D2):c.2590-20C>T
|
|
|
|
NM_006030.4(CACNA2D2):c.2590-6del
|
rs1337692844
|
|
|
NM_006030.4(CACNA2D2):c.2590-8C>T
|
|
|
|
NM_006030.4(CACNA2D2):c.2610T>C (p.Cys870=)
|
rs1553725895
|
|
|
NM_006030.4(CACNA2D2):c.2637+13T>C
|
|
|
|
NM_006030.4(CACNA2D2):c.2637+18C>T
|
|
|
|
NM_006030.4(CACNA2D2):c.2638-13C>T
|
|
|
|
NM_006030.4(CACNA2D2):c.2679G>A (p.Val893=)
|
rs2109403510
|
|
|
NM_006030.4(CACNA2D2):c.267A>C (p.Gly89=)
|
rs781051837
|
|
|
NM_006030.4(CACNA2D2):c.267A>T (p.Gly89=)
|
|
|
|
NM_006030.4(CACNA2D2):c.2709+14AG[2]
|
|
|
|
NM_006030.4(CACNA2D2):c.2709+17G>C
|
|
|
|
NM_006030.4(CACNA2D2):c.2709+8T>C
|
rs1575582665
|
|
|
NM_006030.4(CACNA2D2):c.2709+9C>A
|
rs1575582657
|
|
|
NM_006030.4(CACNA2D2):c.2710-16C>T
|
rs746954450
|
|
|
NM_006030.4(CACNA2D2):c.2733G>A (p.Val911=)
|
|
|
|
NM_006030.4(CACNA2D2):c.2743C>T (p.Leu915=)
|
rs1575582344
|
|
|
NM_006030.4(CACNA2D2):c.2760C>T (p.Tyr920=)
|
|
|
|
NM_006030.4(CACNA2D2):c.2787G>A (p.Glu929=)
|
|
|
|
NM_006030.4(CACNA2D2):c.2790C>A (p.Ser930=)
|
|
|
|
NM_006030.4(CACNA2D2):c.2793T>C (p.Tyr931=)
|
rs768438212
|
|
|
NM_006030.4(CACNA2D2):c.2862+15A>G
|
|
|
|
NM_006030.4(CACNA2D2):c.2862+8C>T
|
rs2109402195
|
|
|
NM_006030.4(CACNA2D2):c.2863-11C>T
|
|
|
|
NM_006030.4(CACNA2D2):c.2863-14TC[2]
|
rs747114675
|
|
|
NM_006030.4(CACNA2D2):c.2863-20C>T
|
|
|
|
NM_006030.4(CACNA2D2):c.2868C>T (p.Thr956=)
|
|
|
|
NM_006030.4(CACNA2D2):c.2892C>T (p.Ala964=)
|
rs375057280
|
|
|
NM_006030.4(CACNA2D2):c.2915+13C>T
|
|
|
|
NM_006030.4(CACNA2D2):c.2915+19G>A
|
rs2109401236
|
|
|
NM_006030.4(CACNA2D2):c.2916-18G>A
|
rs2109400667
|
|
|
NM_006030.4(CACNA2D2):c.2916-5T>C
|
rs2109400609
|
|
|
NM_006030.4(CACNA2D2):c.2916-9G>A
|
|
|
|
NM_006030.4(CACNA2D2):c.2940C>T (p.Tyr980=)
|
rs761003578
|
|
|
NM_006030.4(CACNA2D2):c.294C>T (p.Tyr98=)
|
rs2106892319
|
|
|
NM_006030.4(CACNA2D2):c.2971+15G>A
|
|
|
|
NM_006030.4(CACNA2D2):c.2971+18G>A
|
|
|
|
NM_006030.4(CACNA2D2):c.2971+19G>A
|
|
|
|
NM_006030.4(CACNA2D2):c.2972-14C>T
|
|
|
|
NM_006030.4(CACNA2D2):c.2972-18C>T
|
rs2109399325
|
|
|
NM_006030.4(CACNA2D2):c.2972-7C>T
|
|
|
|
NM_006030.4(CACNA2D2):c.2972-9C>T
|
|
|
|
NM_006030.4(CACNA2D2):c.2988G>A (p.Glu996=)
|
rs1704202539
|
|
|
NM_006030.4(CACNA2D2):c.3003G>A (p.Thr1001=)
|
|
|
|
NM_006030.4(CACNA2D2):c.3003G>C (p.Thr1001=)
|
|
|
|
NM_006030.4(CACNA2D2):c.3018C>T (p.Cys1006=)
|
|
|
|
NM_006030.4(CACNA2D2):c.3072C>T (p.Ala1024=)
|
rs1575579830
|
|
|
NM_006030.4(CACNA2D2):c.3098+11T>A
|
rs2109398374
|
|
|
NM_006030.4(CACNA2D2):c.3098+12G>T
|
|
|
|
NM_006030.4(CACNA2D2):c.3099-16dup
|
|
|
|
NM_006030.4(CACNA2D2):c.3099-19C>T
|
rs1025075578
|
|
|
NM_006030.4(CACNA2D2):c.3099-8G>C
|
rs201346112
|
|
|
NM_006030.4(CACNA2D2):c.3099-8G>T
|
rs201346112
|
|
|
NM_006030.4(CACNA2D2):c.309C>T (p.Asn103=)
|
|
|
|
NM_006030.4(CACNA2D2):c.30C>A (p.Ala10=)
|
rs1216615971
|
|
|
NM_006030.4(CACNA2D2):c.30C>T (p.Ala10=)
|
|
|
|
NM_006030.4(CACNA2D2):c.3108C>T (p.His1036=)
|
|
|
|
NM_006030.4(CACNA2D2):c.3111G>C (p.Ala1037=)
|
|
|
|
NM_006030.4(CACNA2D2):c.3120G>T (p.Leu1040=)
|
rs201510851
|
|
|
NM_006030.4(CACNA2D2):c.3138C>T (p.Leu1046=)
|
rs1303270128
|
|
|
NM_006030.4(CACNA2D2):c.315C>T (p.Phe105=)
|
rs757250670
|
|
|
NM_006030.4(CACNA2D2):c.3171G>A (p.Gln1057=)
|
|
|
|
NM_006030.4(CACNA2D2):c.3174C>T (p.Cys1058=)
|
|
|
|
NM_006030.4(CACNA2D2):c.3189G>A (p.Leu1063=)
|
|
|
|
NM_006030.4(CACNA2D2):c.3195G>A (p.Gln1065=)
|
|
|
|
NM_006030.4(CACNA2D2):c.3198G>A (p.Lys1066=)
|
rs1415793930
|
|
|
NM_006030.4(CACNA2D2):c.3204G>A (p.Thr1068=)
|
|
|
|
NM_006030.4(CACNA2D2):c.3208+15C>T
|
|
|
|
NM_006030.4(CACNA2D2):c.3208+8G>A
|
|
|
|
NM_006030.4(CACNA2D2):c.3208+8_3208+9insA
|
|
|
|
NM_006030.4(CACNA2D2):c.3208+9C>G
|
rs1415243762
|
|
|
NM_006030.4(CACNA2D2):c.3208+9C>T
|
|
|
|
NM_006030.4(CACNA2D2):c.3209-12A>T
|
|
|
|
NM_006030.4(CACNA2D2):c.3209-13C>T
|
|
|
|
NM_006030.4(CACNA2D2):c.3209-16C>T
|
rs1368208674
|
|
|
NM_006030.4(CACNA2D2):c.3209-20G>A
|
|
|
|
NM_006030.4(CACNA2D2):c.3210G>T (p.Ser1070=)
|
|
|
|
NM_006030.4(CACNA2D2):c.3216C>T (p.Gly1072=)
|
rs1575578007
|
|
|
NM_006030.4(CACNA2D2):c.3261C>A (p.Gly1087=)
|
rs373745348
|
|
|
NM_006030.4(CACNA2D2):c.3261C>T (p.Gly1087=)
|
rs373745348
|
|
|
NM_006030.4(CACNA2D2):c.3267C>T (p.His1089=)
|
|
|
|
NM_006030.4(CACNA2D2):c.3279C>T (p.Asp1093=)
|
rs2109395112
|
|
|
NM_006030.4(CACNA2D2):c.3291+16G>A
|
|
|
|
NM_006030.4(CACNA2D2):c.3291+20G>A
|
|
|
|
NM_006030.4(CACNA2D2):c.3292-12C>G
|
rs751413131
|
|
|
NM_006030.4(CACNA2D2):c.3292-12C>T
|
|
|
|
NM_006030.4(CACNA2D2):c.3292-4G>A
|
rs373497307
|
|
|
NM_006030.4(CACNA2D2):c.3306C>T (p.Asp1102=)
|
|
|
|
NM_006030.4(CACNA2D2):c.3318G>A (p.Gly1106=)
|
rs1284536566
|
|
|
NM_006030.4(CACNA2D2):c.3330G>A (p.Pro1110=)
|
|
|
|
NM_006030.4(CACNA2D2):c.3345C>A (p.Val1115=)
|
rs924946197
|
|
|
NM_006030.4(CACNA2D2):c.3354C>T (p.Ser1118=)
|
|
|
|
NM_006030.4(CACNA2D2):c.3369C>G (p.Leu1123=)
|
rs77176698
|
|
|
NM_006030.4(CACNA2D2):c.3381G>A (p.Leu1127=)
|
|
|
|
NM_006030.4(CACNA2D2):c.3387C>G (p.Pro1129=)
|
|
|
|
NM_006030.4(CACNA2D2):c.3402A>G (p.Gln1134=)
|
|
|
|
NM_006030.4(CACNA2D2):c.3408C>T (p.Leu1136=)
|
|
|
|
NM_006030.4(CACNA2D2):c.3414C>T (p.His1138=)
|
|
|
|
NM_006030.4(CACNA2D2):c.3431G>A (p.Ter1144=)
|
rs1487559434
|
|
|
NM_006030.4(CACNA2D2):c.354G>A (p.Lys118=)
|
rs1708211873
|
|
|
NM_006030.4(CACNA2D2):c.363G>A (p.Gly121=)
|
|
|
|
NM_006030.4(CACNA2D2):c.393G>A (p.Val131=)
|
rs938781512
|
|
|
NM_006030.4(CACNA2D2):c.405+16G>A
|
rs2106891492
|
|
|
NM_006030.4(CACNA2D2):c.405+7G>A
|
rs2106891509
|
|
|
NM_006030.4(CACNA2D2):c.406-13C>T
|
|
|
|
NM_006030.4(CACNA2D2):c.406-33_406-17dup
|
|
|
|
NM_006030.4(CACNA2D2):c.406-5C>G
|
|
|
|
NM_006030.4(CACNA2D2):c.406-9G>C
|
|
|
|
NM_006030.4(CACNA2D2):c.423A>G (p.Ala141=)
|
rs1575621496
|
|
|
NM_006030.4(CACNA2D2):c.42C>T (p.Gly14=)
|
|
|
|
NM_006030.4(CACNA2D2):c.459C>T (p.Asn153=)
|
rs1164412966
|
|
|
NM_006030.4(CACNA2D2):c.465+13G>C
|
|
|
|
NM_006030.4(CACNA2D2):c.465+8C>A
|
rs1157358450
|
|
|
NM_006030.4(CACNA2D2):c.466-20G>T
|
|
|
|
NM_006030.4(CACNA2D2):c.466-4C>T
|
rs587676004
|
|
|
NM_006030.4(CACNA2D2):c.489C>T (p.Asp163=)
|
rs1172551444
|
|
|
NM_006030.4(CACNA2D2):c.49C>A (p.Arg17=)
|
rs2107205911
|
|
|
NM_006030.4(CACNA2D2):c.510+10C>T
|
|
|
|
NM_006030.4(CACNA2D2):c.510+15C>G
|
|
|
|
NM_006030.4(CACNA2D2):c.510+7A>C
|
|
|
|
NM_006030.4(CACNA2D2):c.511-13G>A
|
|
|
|
NM_006030.4(CACNA2D2):c.511-19G>A
|
|
|
|
NM_006030.4(CACNA2D2):c.511-20C>T
|
|
|
|
NM_006030.4(CACNA2D2):c.543G>A (p.Gly181=)
|
|
|
|
NM_006030.4(CACNA2D2):c.57G>A (p.Ala19=)
|
rs2107205850
|
|
|
NM_006030.4(CACNA2D2):c.618G>A (p.Ala206=)
|
|
|
|
NM_006030.4(CACNA2D2):c.618G>T (p.Ala206=)
|
rs764966137
|
|
|
NM_006030.4(CACNA2D2):c.63C>T (p.Pro21=)
|
rs1575799164
|
|
|
NM_006030.4(CACNA2D2):c.652+12G>A
|
|
|
|
NM_006030.4(CACNA2D2):c.652+20G>A
|
|
|
|
NM_006030.4(CACNA2D2):c.652+8T>C
|
|
|
|
NM_006030.4(CACNA2D2):c.652+8_652+9del
|
rs1553731556
|
|
|
NM_006030.4(CACNA2D2):c.653-14C>T
|
|
|
|
NM_006030.4(CACNA2D2):c.653-5C>T
|
|
|
|
NM_006030.4(CACNA2D2):c.653-8C>T
|
rs1401267092
|
|
|
NM_006030.4(CACNA2D2):c.654C>T (p.Ser218=)
|
rs748875935
|
|
|
NM_006030.4(CACNA2D2):c.666C>G (p.Leu222=)
|
|
|
|
NM_006030.4(CACNA2D2):c.672G>A (p.Glu224=)
|
|
|
|
NM_006030.4(CACNA2D2):c.678C>T (p.Asn226=)
|
|
|
|
NM_006030.4(CACNA2D2):c.696G>A (p.Glu232=)
|
rs1575605182
|
|
|
NM_006030.4(CACNA2D2):c.69C>T (p.Pro23=)
|
|
|
|
NM_006030.4(CACNA2D2):c.723A>G (p.Gln241=)
|
rs2106670091
|
|
|
NM_006030.4(CACNA2D2):c.72C>T (p.Gly24=)
|
|
|
|
NM_006030.4(CACNA2D2):c.750C>T (p.Phe250=)
|
rs1178298868
|
|
|
NM_006030.4(CACNA2D2):c.756C>T (p.Ser252=)
|
rs761180930
|
|
|
NM_006030.4(CACNA2D2):c.759C>A (p.Ala253=)
|
|
|
|
NM_006030.4(CACNA2D2):c.765A>T (p.Gly255=)
|
rs1256054678
|
|
|
NM_006030.4(CACNA2D2):c.771T>C (p.Thr257=)
|
|
|
|
NM_006030.4(CACNA2D2):c.784+15_784+16del
|
|
|
|
NM_006030.4(CACNA2D2):c.785-12C>G
|
|
|
|
NM_006030.4(CACNA2D2):c.785-14C>T
|
|
|
|
NM_006030.4(CACNA2D2):c.785-17C>T
|
|
|
|
NM_006030.4(CACNA2D2):c.785-20C>T
|
|
|
|
NM_006030.4(CACNA2D2):c.792G>A (p.Pro264=)
|
|
|
|
NM_006030.4(CACNA2D2):c.813C>T (p.Ile271=)
|
rs1705261886
|
|
|
NM_006030.4(CACNA2D2):c.81C>G (p.Pro27=)
|
|
|
|
NM_006030.4(CACNA2D2):c.81C>T (p.Pro27=)
|
|
|
|
NM_006030.4(CACNA2D2):c.828C>G (p.Val276=)
|
rs2106668197
|
|
|
NM_006030.4(CACNA2D2):c.831A>C (p.Arg277=)
|
|
|
|
NM_006030.4(CACNA2D2):c.842+16G>A
|
|
|
|
NM_006030.4(CACNA2D2):c.843-17_843-16del
|
rs1705220781
|
|
|
NM_006030.4(CACNA2D2):c.861G>A (p.Ser287=)
|
|
|
|
NM_006030.4(CACNA2D2):c.861G>T (p.Ser287=)
|
rs771844125
|
|
|
NM_006030.4(CACNA2D2):c.879C>T (p.Val293=)
|
rs2106664141
|
|
|
NM_006030.4(CACNA2D2):c.894-15G>A
|
|
|
|
NM_006030.4(CACNA2D2):c.894-20C>T
|
|
|
|
NM_006030.4(CACNA2D2):c.90C>T (p.Gly30=)
|
rs1054465411
|
|
|
NM_006030.4(CACNA2D2):c.942C>T (p.Val314=)
|
rs889878810
|
|
|
NM_006030.4(CACNA2D2):c.963G>C (p.Leu321=)
|
|
|
|
NM_006030.4(CACNA2D2):c.96C>T (p.Gly32=)
|
|
|
|
NM_006030.4(CACNA2D2):c.981G>A (p.Val327=)
|
|
|
|
NM_006030.4(CACNA2D2):c.984T>C (p.Asn328=)
|
|
|
|
NM_006030.4(CACNA2D2):c.993+11A>G
|
rs753334859
|
|
|
NM_006030.4(CACNA2D2):c.993+8C>A
|
|
|
|
NM_006030.4(CACNA2D2):c.994-10G>A
|
rs747341740
|
|
|
NM_006030.4(CACNA2D2):c.994-6C>A
|
rs371991961
|
|
|
NM_006030.4(CACNA2D2):c.994-6del
|
|
|
|
NM_006030.4(CACNA2D2):c.994-7C>T
|
|
|
|
NM_006030.4(CACNA2D2):c.994-8T>A
|
rs2106661973
|
|
|
NM_006279.5(ST3GAL3):c.1014C>T (p.Thr338=)
|
rs149000966
|
|
|
NM_006279.5(ST3GAL3):c.1039-14A>G
|
|
|
|
NM_006279.5(ST3GAL3):c.1077G>A (p.Leu359=)
|
|
|
|
NM_006279.5(ST3GAL3):c.1095T>G (p.Ala365=)
|
rs2154301076
|
|
|
NM_006279.5(ST3GAL3):c.1125C>T (p.Ile375=)
|
|
|
|
NM_006279.5(ST3GAL3):c.119-20C>T
|
|
|
|
NM_006279.5(ST3GAL3):c.119-9G>T
|
rs2154152717
|
|
|
NM_006279.5(ST3GAL3):c.123A>G (p.Ser41=)
|
|
|
|
NM_006279.5(ST3GAL3):c.144C>G (p.Ser48=)
|
|
|
|
NM_006279.5(ST3GAL3):c.144C>T (p.Ser48=)
|
rs756428954
|
|
|
NM_006279.5(ST3GAL3):c.147T>C (p.Ala49=)
|
|
|
|
NM_006279.5(ST3GAL3):c.166+11T>G
|
|
|
|
NM_006279.5(ST3GAL3):c.166+15C>T
|
|
|
|
NM_006279.5(ST3GAL3):c.166+18T>C
|
|
|
|
NM_006279.5(ST3GAL3):c.167-7T>A
|
rs199609363
|
|
|
NM_006279.5(ST3GAL3):c.190C>T (p.Leu64=)
|
rs1573469827
|
|
|
NM_006279.5(ST3GAL3):c.192G>T (p.Leu64=)
|
|
|
|
NM_006279.5(ST3GAL3):c.209+10A>G
|
|
|
|
NM_006279.5(ST3GAL3):c.209+13A>T
|
|
|
|
NM_006279.5(ST3GAL3):c.209+17G>A
|
rs553659855
|
|
|
NM_006279.5(ST3GAL3):c.210-12C>G
|
|
|
|
NM_006279.5(ST3GAL3):c.210-16C>T
|
|
|
|
NM_006279.5(ST3GAL3):c.210-6C>T
|
|
|
|
NM_006279.5(ST3GAL3):c.231G>A (p.Lys77=)
|
rs748703922
|
|
|
NM_006279.5(ST3GAL3):c.246A>G (p.Ser82=)
|
rs2154197428
|
|
|
NM_006279.5(ST3GAL3):c.297C>T (p.Phe99=)
|
|
|
|
NM_006279.5(ST3GAL3):c.302+10C>T
|
|
|
|
NM_006279.5(ST3GAL3):c.302+18C>T
|
|
|
|
NM_006279.5(ST3GAL3):c.302+20T>A
|
|
|
|
NM_006279.5(ST3GAL3):c.303-18A>G
|
|
|
|
NM_006279.5(ST3GAL3):c.303-20G>T
|
rs2154266998
|
|
|
NM_006279.5(ST3GAL3):c.303-4C>T
|
|
|
|
NM_006279.5(ST3GAL3):c.303-8T>C
|
rs2154267024
|
|
|
NM_006279.5(ST3GAL3):c.369C>T (p.Phe123=)
|
|
|
|
NM_006279.5(ST3GAL3):c.398-15C>T
|
|
|
|
NM_006279.5(ST3GAL3):c.398-17C>G
|
|
|
|
NM_006279.5(ST3GAL3):c.398-19C>T
|
|
|
|
NM_006279.5(ST3GAL3):c.398-20C>A
|
|
|
|
NM_006279.5(ST3GAL3):c.398-20C>G
|
|
|
|
NM_006279.5(ST3GAL3):c.398-20C>T
|
|
|
|
NM_006279.5(ST3GAL3):c.438C>T (p.Tyr146=)
|
|
|
|
NM_006279.5(ST3GAL3):c.442C>T (p.Leu148=)
|
rs1570937203
|
|
|
NM_006279.5(ST3GAL3):c.461+11C>T
|
|
|
|
NM_006279.5(ST3GAL3):c.461+15G>C
|
rs759653620
|
|
|
NM_006279.5(ST3GAL3):c.461+20G>A
|
|
|
|
NM_006279.5(ST3GAL3):c.462-10C>G
|
|
|
|
NM_006279.5(ST3GAL3):c.462-16G>A
|
|
|
|
NM_006279.5(ST3GAL3):c.462-16_462-14dup
|
|
|
|
NM_006279.5(ST3GAL3):c.462-19T>C
|
|
|
|
NM_006279.5(ST3GAL3):c.471C>T (p.Cys157=)
|
rs2154270556
|
|
|
NM_006279.5(ST3GAL3):c.480C>T (p.Cys160=)
|
|
|
|
NM_006279.5(ST3GAL3):c.489G>A (p.Val163=)
|
rs2154270571
|
|
|
NM_006279.5(ST3GAL3):c.501C>T (p.Gly167=)
|
rs750351440
|
|
|
NM_006279.5(ST3GAL3):c.525G>A (p.Gly175=)
|
rs2077857161
|
|
|
NM_006279.5(ST3GAL3):c.552G>A (p.Val184=)
|
|
|
|
NM_006279.5(ST3GAL3):c.557+8C>T
|
rs1298185164
|
|
|
NM_006279.5(ST3GAL3):c.558-11G>A
|
|
|
|
NM_006279.5(ST3GAL3):c.558-19G>A
|
|
|
|
NM_006279.5(ST3GAL3):c.558-4G>A
|
|
|
|
NM_006279.5(ST3GAL3):c.582C>G (p.Gly194=)
|
|
|
|
NM_006279.5(ST3GAL3):c.609G>C (p.Thr203=)
|
|
|
|
NM_006279.5(ST3GAL3):c.612A>C (p.Thr204=)
|
|
|
|
NM_006279.5(ST3GAL3):c.627C>T (p.Tyr209=)
|
rs1060504500
|
|
|
NM_006279.5(ST3GAL3):c.666C>T (p.Arg222=)
|
rs773310944
|
|
|
NM_006279.5(ST3GAL3):c.678T>C (p.Phe226=)
|
rs774370945
|
|
|
NM_006279.5(ST3GAL3):c.687C>T (p.Ala229=)
|
|
|
|
NM_006279.5(ST3GAL3):c.738G>A (p.Glu246=)
|
rs2154270984
|
|
|
NM_006279.5(ST3GAL3):c.744+18C>A
|
|
|
|
NM_006279.5(ST3GAL3):c.744+8C>T
|
|
|
|
NM_006279.5(ST3GAL3):c.745-11T>C
|
|
|
|
NM_006279.5(ST3GAL3):c.753G>C (p.Ser251=)
|
|
|
|
NM_006279.5(ST3GAL3):c.762C>T (p.Phe254=)
|
|
|
|
NM_006279.5(ST3GAL3):c.786G>A (p.Val262=)
|
rs886042469
|
|
|
NM_006279.5(ST3GAL3):c.798C>G (p.Pro266=)
|
|
|
|
NM_006279.5(ST3GAL3):c.831C>T (p.Ile277=)
|
rs1553140060
|
|
|
NM_006279.5(ST3GAL3):c.837G>A (p.Glu279=)
|
|
|
|
NM_006279.5(ST3GAL3):c.840C>T (p.Ala280=)
|
rs752116461
|
|
|
NM_006279.5(ST3GAL3):c.864C>T (p.Pro288=)
|
|
|
|
NM_006279.5(ST3GAL3):c.885C>A (p.Gly295=)
|
|
|
|
NM_006279.5(ST3GAL3):c.886C>A (p.Arg296=)
|
|
|
|
NM_006279.5(ST3GAL3):c.891+16C>T
|
|
|
|
NM_006279.5(ST3GAL3):c.892-11C>G
|
|
|
|
NM_006279.5(ST3GAL3):c.892-11C>T
|
|
|
|
NM_006279.5(ST3GAL3):c.892-14C>G
|
|
|
|
NM_006279.5(ST3GAL3):c.892-5T>C
|
rs2154295248
|
|
|
NM_006279.5(ST3GAL3):c.892-8T>C
|
|
|
|
NM_006279.5(ST3GAL3):c.912T>C (p.Ser304=)
|
rs1557562991
|
|
|
NM_006279.5(ST3GAL3):c.984A>G (p.Thr328=)
|
rs2082909747
|
|
|
NM_006279.5(ST3GAL3):c.987C>T (p.Pro329=)
|
|
|
|
NM_006279.5(ST3GAL3):c.996C>G (p.Pro332=)
|
rs2154295296
|
|
|
NM_007254.4(PNKP):c.1011G>A (p.Glu337=)
|
|
|
|
NM_007254.4(PNKP):c.1014C>T (p.Leu338=)
|
|
|
|
NM_007254.4(PNKP):c.1017A>T (p.Pro339=)
|
|
|
|
NM_007254.4(PNKP):c.1029+19G>A
|
|
|
|
NM_007254.4(PNKP):c.1029+20G>C
|
rs1239545577
|
|
|
NM_007254.4(PNKP):c.1030-12C>G
|
|
|
|
NM_007254.4(PNKP):c.1030-15C>T
|
rs2122325717
|
|
|
NM_007254.4(PNKP):c.1030-16C>A
|
|
|
|
NM_007254.4(PNKP):c.1030-16C>G
|
|
|
|
NM_007254.4(PNKP):c.1030-16C>T
|
rs772191471
|
|
|
NM_007254.4(PNKP):c.1030-8C>G
|
|
|
|
NM_007254.4(PNKP):c.103A>C (p.Arg35=)
|
|
|
|
NM_007254.4(PNKP):c.1041C>T (p.Ser347=)
|
|
|
|
NM_007254.4(PNKP):c.1044C>G (p.Arg348=)
|
rs932293072
|
|
|
NM_007254.4(PNKP):c.1050G>T (p.Gly350=)
|
rs1194208521
|
|
|
NM_007254.4(PNKP):c.1065C>G (p.Pro355=)
|
|
|
|
NM_007254.4(PNKP):c.1065C>T (p.Pro355=)
|
rs569834947
|
|
|
NM_007254.4(PNKP):c.1110A>G (p.Ala370=)
|
rs753408018
|
|
|
NM_007254.4(PNKP):c.111C>A (p.Pro37=)
|
rs781573473
|
|
|
NM_007254.4(PNKP):c.1125G>T (p.Gly375=)
|
rs727504101
|
|
|
NM_007254.4(PNKP):c.1126+15C>T
|
rs748643212
|
|
|
NM_007254.4(PNKP):c.1126+16C>T
|
|
|
|
NM_007254.4(PNKP):c.1126+9C>G
|
rs3739202
|
|
|
NM_007254.4(PNKP):c.1127-10C>A
|
rs747464508
|
|
|
NM_007254.4(PNKP):c.1127-19G>A
|
|
|
|
NM_007254.4(PNKP):c.1127-19G>C
|
|
|
|
NM_007254.4(PNKP):c.1127-19G>T
|
rs776536622
|
|
|
NM_007254.4(PNKP):c.1127-7C>A
|
|
|
|
NM_007254.4(PNKP):c.1128C>T (p.Ala376=)
|
|
|
|
NM_007254.4(PNKP):c.1134G>A (p.Lys378=)
|
|
|
|
NM_007254.4(PNKP):c.1146C>G (p.Leu382=)
|
rs751483948
|
|
|
NM_007254.4(PNKP):c.1155C>T (p.His385=)
|
rs758168476
|
|
|
NM_007254.4(PNKP):c.1161G>A (p.Val387=)
|
|
|
|
NM_007254.4(PNKP):c.1164G>T (p.Ser388=)
|
rs776788871
|
|
|
NM_007254.4(PNKP):c.1179C>T (p.His393=)
|
|
|
|
NM_007254.4(PNKP):c.1188+11_1188+13del
|
|
|
|
NM_007254.4(PNKP):c.1188+12C>G
|
|
|
|
NM_007254.4(PNKP):c.1188+16T>A
|
rs1254862884
|
|
|
NM_007254.4(PNKP):c.1188+7C>T
|
rs2122323745
|
|
|
NM_007254.4(PNKP):c.1188+8del
|
rs763782151
|
|
|
NM_007254.4(PNKP):c.1189-13C>G
|
|
|
|
NM_007254.4(PNKP):c.1189-13C>T
|
|
|
|
NM_007254.4(PNKP):c.1189-16C>T
|
|
|
|
NM_007254.4(PNKP):c.1189-46_1189-10del
|
|
|
|
NM_007254.4(PNKP):c.1215T>C (p.Cys405=)
|
rs2122321900
|
|
|
NM_007254.4(PNKP):c.1218G>C (p.Val406=)
|
|
|
|
NM_007254.4(PNKP):c.1236C>T (p.Ala412=)
|
rs1060504641
|
|
|
NM_007254.4(PNKP):c.1237C>T (p.Leu413=)
|
rs2074769563
|
|
|
NM_007254.4(PNKP):c.1263C>A (p.Ile421=)
|
rs758836805
|
|
|
NM_007254.4(PNKP):c.1263C>T (p.Ile421=)
|
rs758836805
|
|
|
NM_007254.4(PNKP):c.126G>A (p.Thr42=)
|
|
|
|
NM_007254.4(PNKP):c.126G>C (p.Thr42=)
|
|
|
|
NM_007254.4(PNKP):c.1284C>A (p.Ala428=)
|
rs749177501
|
|
|
NM_007254.4(PNKP):c.1284C>G (p.Ala428=)
|
rs749177501
|
|
|
NM_007254.4(PNKP):c.1284C>T (p.Ala428=)
|
rs749177501
|
|
|
NM_007254.4(PNKP):c.1286_1298+6dup
|
rs760249644
|
|
|
NM_007254.4(PNKP):c.1293C>A (p.Arg431=)
|
rs143390809
|
|
|
NM_007254.4(PNKP):c.1296C>G (p.Ala432=)
|
|
|
|
NM_007254.4(PNKP):c.1298+12G>A
|
rs747065246
|
|
|
NM_007254.4(PNKP):c.1298+12G>T
|
rs747065246
|
|
|
NM_007254.4(PNKP):c.1298+13C>T
|
|
|
|
NM_007254.4(PNKP):c.1298+16_1298+17insCGCGGGTCA
|
|
|
|
NM_007254.4(PNKP):c.1298+18C>T
|
rs964341783
|
|
|
NM_007254.4(PNKP):c.1298+20G>A
|
rs765634741
|
|
|
NM_007254.4(PNKP):c.1298+7_1298+12dup
|
|
|
|
NM_007254.4(PNKP):c.1299-12C>T
|
|
|
|
NM_007254.4(PNKP):c.1299-13C>G
|
rs761732328
|
|
|
NM_007254.4(PNKP):c.1299-9C>A
|
rs1055654261
|
|
|
NM_007254.4(PNKP):c.1299-9_1299-8delinsTT
|
rs1064794370
|
|
|
NM_007254.4(PNKP):c.1305C>G (p.Val435=)
|
|
|
|
NM_007254.4(PNKP):c.1320C>G (p.Ala440=)
|
rs565533397
|
|
|
NM_007254.4(PNKP):c.1320C>T (p.Ala440=)
|
rs565533397
|
|
|
NM_007254.4(PNKP):c.1323G>T (p.Ala441=)
|
|
|
|
NM_007254.4(PNKP):c.1326C>T (p.Gly442=)
|
rs1159488769
|
|
|
NM_007254.4(PNKP):c.1332C>G (p.Pro444=)
|
|
|
|
NM_007254.4(PNKP):c.1332C>T (p.Pro444=)
|
rs1354256517
|
|
|
NM_007254.4(PNKP):c.1338C>G (p.Arg446=)
|
rs1487681927
|
|
|
NM_007254.4(PNKP):c.135G>A (p.Lys45=)
|
|
|
|
NM_007254.4(PNKP):c.1360C>T (p.Leu454=)
|
|
|
|
NM_007254.4(PNKP):c.1371G>A (p.Ala457=)
|
rs1477817574
|
|
|
NM_007254.4(PNKP):c.1386+15C>T
|
|
|
|
NM_007254.4(PNKP):c.1386+19G>A
|
|
|
|
NM_007254.4(PNKP):c.1386+40C>G
|
|
|
|
NM_007254.4(PNKP):c.1386+41C>G
|
|
|
|
NM_007254.4(PNKP):c.1386+45C>T
|
|
|
|
NM_007254.4(PNKP):c.1386+46C>G
|
rs767727372
|
|
|
NM_007254.4(PNKP):c.1386+8C>T
|
rs2074762037
|
|
|
NM_007254.4(PNKP):c.1386+9G>T
|
|
|
|
NM_007254.4(PNKP):c.1387-14G>A
|
|
|
|
NM_007254.4(PNKP):c.1387-35C>T
|
|
|
|
NM_007254.4(PNKP):c.1387-36C>A
|
|
|
|
NM_007254.4(PNKP):c.1387-36C>T
|
rs748550221
|
|
|
NM_007254.4(PNKP):c.1387-43C>T
|
|
|
|
NM_007254.4(PNKP):c.1387-47del
|
|
|
|
NM_007254.4(PNKP):c.1387-7C>T
|
rs1060504642
|
|
|
NM_007254.4(PNKP):c.1395G>A (p.Glu465=)
|
|
|
|
NM_007254.4(PNKP):c.1422G>A (p.Val474=)
|
rs1017330396
|
|
|
NM_007254.4(PNKP):c.1422G>C (p.Val474=)
|
|
|
|
NM_007254.4(PNKP):c.1428C>T (p.Asp476=)
|
|
|
|
NM_007254.4(PNKP):c.1448+10G>A
|
rs2074756487
|
|
|
NM_007254.4(PNKP):c.1448+11G>T
|
|
|
|
NM_007254.4(PNKP):c.1448+14T>C
|
|
|
|
NM_007254.4(PNKP):c.1448+5_1448+8dup
|
|
|
|
NM_007254.4(PNKP):c.1449-11_1449-10del
|
rs1568658026
|
|
|
NM_007254.4(PNKP):c.1449-12C>T
|
|
|
|
NM_007254.4(PNKP):c.1449-13C>T
|
|
|
|
NM_007254.4(PNKP):c.1449-14_1449-13delinsTT
|
|
|
|
NM_007254.4(PNKP):c.1449-5G>A
|
|
|
|
NM_007254.4(PNKP):c.1449-5G>T
|
rs1030404078
|
|
|
NM_007254.4(PNKP):c.1449-8_1449-6del
|
|
|
|
NM_007254.4(PNKP):c.1449-9C>T
|
|
|
|
NM_007254.4(PNKP):c.1464C>T (p.Ala488=)
|
|
|
|
NM_007254.4(PNKP):c.1482C>A (p.Gly494=)
|
rs60279874
|
|
|
NM_007254.4(PNKP):c.1482C>G (p.Gly494=)
|
|
|
|
NM_007254.4(PNKP):c.1494C>T (p.Ile498=)
|
rs368390840
|
|
|
NM_007254.4(PNKP):c.1497G>T (p.Leu499=)
|
|
|
|
NM_007254.4(PNKP):c.1500G>A (p.Glu500=)
|
rs1381051164
|
|
|
NM_007254.4(PNKP):c.151+10G>T
|
rs752454809
|
|
|
NM_007254.4(PNKP):c.151+9G>A
|
rs1334243225
|
|
|
NM_007254.4(PNKP):c.1510C>A (p.Arg504=)
|
rs148669160
|
|
|
NM_007254.4(PNKP):c.1512G>C (p.Arg504=)
|
rs2074753438
|
|
|
NM_007254.4(PNKP):c.1512G>T (p.Arg504=)
|
|
|
|
NM_007254.4(PNKP):c.152-13C>T
|
|
|
|
NM_007254.4(PNKP):c.1521G>A (p.Val507=)
|
rs2122315651
|
|
|
NM_007254.4(PNKP):c.1527G>T (p.Pro509=)
|
rs144086713
|
|
|
NM_007254.4(PNKP):c.1536G>A (p.Gly512=)
|
rs766717633
|
|
|
NM_007254.4(PNKP):c.1539G>A (p.Arg513=)
|
rs776243333
|
|
|
NM_007254.4(PNKP):c.1545C>T (p.Tyr515=)
|
rs760131892
|
|
|
NM_007254.4(PNKP):c.1557C>G (p.Ser519=)
|
rs142180374
|
|
|
NM_007254.4(PNKP):c.1560G>A (p.Glu520=)
|
|
|
|
NM_007254.4(PNKP):c.15G>A (p.Glu5=)
|
|
|
|
NM_007254.4(PNKP):c.198+13C>G
|
|
|
|
NM_007254.4(PNKP):c.198+13C>T
|
|
|
|
NM_007254.4(PNKP):c.198+15G>A
|
|
|
|
NM_007254.4(PNKP):c.198+19G>C
|
rs533017953
|
|
|
NM_007254.4(PNKP):c.198+7G>T
|
rs2122342848
|
|
|
NM_007254.4(PNKP):c.198+9G>T
|
|
|
|
NM_007254.4(PNKP):c.199-14C>T
|
|
|
|
NM_007254.4(PNKP):c.199-14CT[2]
|
rs749292876
|
|
|
NM_007254.4(PNKP):c.222C>T (p.Thr74=)
|
|
|
|
NM_007254.4(PNKP):c.234G>A (p.Glu78=)
|
rs2122339283
|
|
|
NM_007254.4(PNKP):c.258T>C (p.Ser86=)
|
rs375826483
|
|
|
NM_007254.4(PNKP):c.270G>A (p.Gly90=)
|
|
|
|
NM_007254.4(PNKP):c.27C>T (p.Arg9=)
|
|
|
|
NM_007254.4(PNKP):c.28T>C (p.Leu10=)
|
|
|
|
NM_007254.4(PNKP):c.291T>C (p.Asn97=)
|
rs1555811608
|
|
|
NM_007254.4(PNKP):c.294C>T (p.Gly98=)
|
rs1197822719
|
|
|
NM_007254.4(PNKP):c.300C>T (p.His100=)
|
|
|
|
NM_007254.4(PNKP):c.321A>G (p.Glu107=)
|
rs2122338975
|
|
|
NM_007254.4(PNKP):c.336A>G (p.Pro112=)
|
rs2122338877
|
|
|
NM_007254.4(PNKP):c.357G>C (p.Pro119=)
|
rs766826936
|
|
|
NM_007254.4(PNKP):c.357G>T (p.Pro119=)
|
|
|
|
NM_007254.4(PNKP):c.36C>G (p.Leu12=)
|
rs1197600061
|
|
|
NM_007254.4(PNKP):c.378C>T (p.Ser126=)
|
rs2122338751
|
|
|
NM_007254.4(PNKP):c.381A>G (p.Gln127=)
|
rs139679798
|
|
|
NM_007254.4(PNKP):c.408G>A (p.Pro136=)
|
rs770822417
|
|
|
NM_007254.4(PNKP):c.408G>C (p.Pro136=)
|
rs770822417
|
|
|
NM_007254.4(PNKP):c.417T>A (p.Arg139=)
|
rs1060504643
|
|
|
NM_007254.4(PNKP):c.429A>C (p.Ser143=)
|
|
|
|
NM_007254.4(PNKP):c.42C>T (p.Ser14=)
|
rs751327913
|
|
|
NM_007254.4(PNKP):c.432C>T (p.Asn144=)
|
|
|
|
NM_007254.4(PNKP):c.438C>G (p.Gly146=)
|
|
|
|
NM_007254.4(PNKP):c.444G>A (p.Glu148=)
|
rs2122338483
|
|
|
NM_007254.4(PNKP):c.460C>T (p.Leu154=)
|
rs933383603
|
|
|
NM_007254.4(PNKP):c.480G>C (p.Gly160=)
|
rs1600421459
|
|
|
NM_007254.4(PNKP):c.48T>A (p.Pro16=)
|
|
|
|
NM_007254.4(PNKP):c.495C>G (p.Gly165=)
|
|
|
|
NM_007254.4(PNKP):c.498+14C>T
|
|
|
|
NM_007254.4(PNKP):c.499-18_499-17insTCCTTGGTGTCACCTG
|
rs753093330
|
|
|
NM_007254.4(PNKP):c.499-19C>T
|
rs868590428
|
|
|
NM_007254.4(PNKP):c.499-4C>A
|
|
|
|
NM_007254.4(PNKP):c.499-9T>C
|
|
|
|
NM_007254.4(PNKP):c.51G>A (p.Gly17=)
|
|
|
|
NM_007254.4(PNKP):c.528C>T (p.Leu176=)
|
|
|
|
NM_007254.4(PNKP):c.54A>G (p.Gly18=)
|
|
|
|
NM_007254.4(PNKP):c.578+11G>A
|
|
|
|
NM_007254.4(PNKP):c.578+11G>T
|
|
|
|
NM_007254.4(PNKP):c.578+18_578+21del
|
|
|
|
NM_007254.4(PNKP):c.578+8G>A
|
rs1434825029
|
|
|
NM_007254.4(PNKP):c.578+8G>C
|
|
|
|
NM_007254.4(PNKP):c.579-11del
|
|
|
|
NM_007254.4(PNKP):c.579-6C>T
|
|
|
|
NM_007254.4(PNKP):c.579-9C>A
|
rs955732346
|
|
|
NM_007254.4(PNKP):c.579-9C>G
|
rs955732346
|
|
|
NM_007254.4(PNKP):c.579-9C>T
|
|
|
|
NM_007254.4(PNKP):c.582C>T (p.Ile194=)
|
|
|
|
NM_007254.4(PNKP):c.591A>G (p.Pro197=)
|
|
|
|
NM_007254.4(PNKP):c.606G>A (p.Lys202=)
|
rs767378244
|
|
|
NM_007254.4(PNKP):c.609C>G (p.Leu203=)
|
|
|
|
NM_007254.4(PNKP):c.612A>G (p.Arg204=)
|
rs1207529903
|
|
|
NM_007254.4(PNKP):c.636+14C>G
|
rs2122335161
|
|
|
NM_007254.4(PNKP):c.636+15C>G
|
rs773988123
|
|
|
NM_007254.4(PNKP):c.637-13del
|
rs754413273
|
|
|
NM_007254.4(PNKP):c.637-14C>A
|
|
|
|
NM_007254.4(PNKP):c.637-14C>G
|
|
|
|
NM_007254.4(PNKP):c.637-14C>T
|
|
|
|
NM_007254.4(PNKP):c.645C>A (p.Ile215=)
|
|
|
|
NM_007254.4(PNKP):c.663C>T (p.Ser221=)
|
rs1376565938
|
|
|
NM_007254.4(PNKP):c.666C>T (p.Ile222=)
|
rs587784369
|
|
|
NM_007254.4(PNKP):c.681G>C (p.Leu227=)
|
|
|
|
NM_007254.4(PNKP):c.69C>T (p.Phe23=)
|
rs2122345008
|
|
|
NM_007254.4(PNKP):c.6C>T (p.Gly2=)
|
|
|
|
NM_007254.4(PNKP):c.705G>A (p.Lys235=)
|
|
|
|
NM_007254.4(PNKP):c.744+13G>A
|
|
|
|
NM_007254.4(PNKP):c.744+18G>A
|
|
|
|
NM_007254.4(PNKP):c.745-17C>G
|
|
|
|
NM_007254.4(PNKP):c.745-9C>T
|
rs1555811381
|
|
|
NM_007254.4(PNKP):c.765A>C (p.Ala255=)
|
|
|
|
NM_007254.4(PNKP):c.801C>T (p.Asp267=)
|
|
|
|
NM_007254.4(PNKP):c.807G>A (p.Leu269=)
|
|
|
|
NM_007254.4(PNKP):c.816+8_816+11dup
|
|
|
|
NM_007254.4(PNKP):c.817-15T>C
|
|
|
|
NM_007254.4(PNKP):c.817-16C>T
|
rs751500600
|
|
|
NM_007254.4(PNKP):c.817-17A>C
|
|
|
|
NM_007254.4(PNKP):c.817-17A>G
|
rs759404435
|
|
|
NM_007254.4(PNKP):c.817-20_817-18del
|
|
|
|
NM_007254.4(PNKP):c.817-4G>C
|
|
|
|
NM_007254.4(PNKP):c.817-4G>T
|
rs377241372
|
|
|
NM_007254.4(PNKP):c.817-5del
|
rs767881542
|
|
|
NM_007254.4(PNKP):c.817-6C>T
|
rs1438851811
|
|
|
NM_007254.4(PNKP):c.81C>T (p.Asp27=)
|
rs1226961947
|
|
|
NM_007254.4(PNKP):c.828C>T (p.Gly276=)
|
|
|
|
NM_007254.4(PNKP):c.840C>T (p.Ser280=)
|
rs754505243
|
|
|
NM_007254.4(PNKP):c.843C>T (p.Ile281=)
|
|
|
|
NM_007254.4(PNKP):c.865+10T>C
|
|
|
|
NM_007254.4(PNKP):c.865+11G>C
|
|
|
|
NM_007254.4(PNKP):c.865+17T>C
|
|
|
|
NM_007254.4(PNKP):c.865+8C>T
|
|
|
|
NM_007254.4(PNKP):c.865+9C>T
|
rs1555811201
|
|
|
NM_007254.4(PNKP):c.865+9del
|
rs2122329016
|
|
|
NM_007254.4(PNKP):c.866-14C>G
|
|
|
|
NM_007254.4(PNKP):c.866-18G>A
|
|
|
|
NM_007254.4(PNKP):c.867C>T (p.Asp289=)
|
rs771239062
|
|
|
NM_007254.4(PNKP):c.873C>A (p.Ala291=)
|
rs749641401
|
|
|
NM_007254.4(PNKP):c.882G>A (p.Pro294=)
|
rs745849196
|
|
|
NM_007254.4(PNKP):c.882G>T (p.Pro294=)
|
|
|
|
NM_007254.4(PNKP):c.906G>A (p.Lys302=)
|
rs1555811171
|
|
|
NM_007254.4(PNKP):c.927C>T (p.Ala309=)
|
|
|
|
NM_007254.4(PNKP):c.933C>G (p.Arg311=)
|
rs755200425
|
|
|
NM_007254.4(PNKP):c.933C>T (p.Arg311=)
|
|
|
|
NM_007254.4(PNKP):c.936+10del
|
rs1028122181
|
|
|
NM_007254.4(PNKP):c.936+11T>C
|
|
|
|
NM_007254.4(PNKP):c.936+13C>A
|
rs962788282
|
|
|
NM_007254.4(PNKP):c.936+13C>G
|
rs962788282
|
|
|
NM_007254.4(PNKP):c.936+15C>G
|
rs1408686073
|
|
|
NM_007254.4(PNKP):c.936+16C>T
|
rs369723968
|
|
|
NM_007254.4(PNKP):c.936+17C>G
|
rs771741148
|
|
|
NM_007254.4(PNKP):c.936+4_936+10dup
|
|
|
|
NM_007254.4(PNKP):c.937-11_937-10del
|
rs769234730
|
|
|
NM_007254.4(PNKP):c.937-13C>T
|
|
|
|
NM_007254.4(PNKP):c.937-15G>A
|
|
|
|
NM_007254.4(PNKP):c.937-15G>C
|
rs200183796
|
|
|
NM_007254.4(PNKP):c.937-16C>G
|
rs755267515
|
|
|
NM_007254.4(PNKP):c.937-19G>T
|
|
|
|
NM_007254.4(PNKP):c.937-6C>T
|
|
|
|
NM_007254.4(PNKP):c.937-7C>T
|
|
|
|
NM_007254.4(PNKP):c.93G>C (p.Leu31=)
|
|
|
|
NM_007254.4(PNKP):c.957G>A (p.Leu319=)
|
rs1600417997
|
|
|
NM_007254.4(PNKP):c.963C>T (p.Phe321=)
|
rs1042120334
|
|
|
NM_007254.4(PNKP):c.999A>T (p.Ala333=)
|
rs1568660146
|
|
|
NM_014191.4(SCN8A):c.630T>C (p.Phe210=)
|
rs2138716083
|
|
|
NM_014191.4(SCN8A):c.672A>G (p.Val224=)
|
rs1592380681
|
|
|
NM_014191.4(SCN8A):c.678G>A (p.Arg226=)
|
|
|
|
NM_014334.3(FRRS1L):c.12G>C (p.Pro4=)
|
|
|
|
NM_014334.3(FRRS1L):c.15G>A (p.Arg5=)
|
|
|
|
NM_014334.3(FRRS1L):c.33G>C (p.Ala11=)
|
|
|
|
NM_014334.4(FRRS1L):c.-109G>A
|
rs1256823075
|
|
|
NM_014334.4(FRRS1L):c.-21C>T
|
rs1025173467
|
|
|
NM_014334.4(FRRS1L):c.-34C>A
|
rs1487787394
|
|
|
NM_014334.4(FRRS1L):c.-43C>A
|
rs969535888
|
|
|
NM_014334.4(FRRS1L):c.-43C>G
|
|
|
|
NM_014334.4(FRRS1L):c.-43C>T
|
rs969535888
|
|
|
NM_014334.4(FRRS1L):c.-49C>T
|
|
|
|
NM_014334.4(FRRS1L):c.-64G>A
|
|
|
|
NM_014334.4(FRRS1L):c.-70A>T
|
|
|
|
NM_014334.4(FRRS1L):c.-79C>T
|
rs1204034171
|
|
|
NM_014334.4(FRRS1L):c.-88T>C
|
|
|
|
NM_014334.4(FRRS1L):c.-94T>C
|
|
|
|
NM_014334.4(FRRS1L):c.117C>G (p.Gly39=)
|
|
|
|
NM_014334.4(FRRS1L):c.144G>A (p.Gly48=)
|
|
|
|
NM_014334.4(FRRS1L):c.165G>C (p.Ala55=)
|
rs780340038
|
|
|
NM_014334.4(FRRS1L):c.165G>T (p.Ala55=)
|
|
|
|
NM_014334.4(FRRS1L):c.177C>T (p.His59=)
|
rs1564238035
|
|
|
NM_014334.4(FRRS1L):c.195C>T (p.Thr65=)
|
|
|
|
NM_014334.4(FRRS1L):c.201G>A (p.Ala67=)
|
|
|
|
NM_014334.4(FRRS1L):c.201G>T (p.Ala67=)
|
|
|
|
NM_014334.4(FRRS1L):c.207G>A (p.Glu69=)
|
|
|
|
NM_014334.4(FRRS1L):c.213C>T (p.Tyr71=)
|
rs2118522749
|
|
|
NM_014334.4(FRRS1L):c.231G>T (p.Ser77=)
|
|
|
|
NM_014334.4(FRRS1L):c.238+10C>T
|
|
|
|
NM_014334.4(FRRS1L):c.238+20A>T
|
|
|
|
NM_014334.4(FRRS1L):c.239-12C>T
|
|
|
|
NM_014334.4(FRRS1L):c.239-4C>T
|
|
|
|
NM_014334.4(FRRS1L):c.285C>A (p.Ile95=)
|
rs1175070188
|
|
|
NM_014334.4(FRRS1L):c.288A>G (p.Lys96=)
|
|
|
|
NM_014334.4(FRRS1L):c.30G>A (p.Gly10=)
|
rs895585877
|
|
|
NM_014334.4(FRRS1L):c.323+11C>T
|
|
|
|
NM_014334.4(FRRS1L):c.323+15A>T
|
|
|
|
NM_014334.4(FRRS1L):c.323+17G>T
|
|
|
|
NM_014334.4(FRRS1L):c.323+19T>C
|
|
|
|
NM_014334.4(FRRS1L):c.323+9A>C
|
rs1831305195
|
|
|
NM_014334.4(FRRS1L):c.324-12T>C
|
|
|
|
NM_014334.4(FRRS1L):c.324-15C>T
|
|
|
|
NM_014334.4(FRRS1L):c.363T>C (p.Tyr121=)
|
rs2118482339
|
|
|
NM_014334.4(FRRS1L):c.43C>T (p.Leu15=)
|
rs1831564608
|
|
|
NM_014334.4(FRRS1L):c.462+12A>G
|
|
|
|
NM_014334.4(FRRS1L):c.462+16del
|
rs2118481793
|
|
|
NM_014334.4(FRRS1L):c.462+18A>G
|
|
|
|
NM_014334.4(FRRS1L):c.462+8G>A
|
|
|
|
NM_014334.4(FRRS1L):c.463-10C>T
|
rs1453823170
|
|
|
NM_014334.4(FRRS1L):c.463-15C>A
|
|
|
|
NM_014334.4(FRRS1L):c.463-5G>A
|
rs2118468399
|
|
|
NM_014334.4(FRRS1L):c.477C>T (p.Val159=)
|
|
|
|
NM_014334.4(FRRS1L):c.48C>T (p.Leu16=)
|
rs1026370550
|
|
|
NM_014334.4(FRRS1L):c.498C>T (p.Asp166=)
|
rs558810564
|
|
|
NM_014334.4(FRRS1L):c.54G>A (p.Leu18=)
|
rs1588106658
|
|
|
NM_014334.4(FRRS1L):c.555T>C (p.Ile185=)
|
rs2118468038
|
|
|
NM_014334.4(FRRS1L):c.561A>G (p.Arg187=)
|
rs2118468029
|
|
|
NM_014334.4(FRRS1L):c.57A>G (p.Leu19=)
|
|
|
|
NM_014334.4(FRRS1L):c.58C>T (p.Leu20=)
|
rs2118523590
|
|
|
NM_014334.4(FRRS1L):c.597C>T (p.Asn199=)
|
|
|
|
NM_014334.4(FRRS1L):c.606C>T (p.Val202=)
|
rs1588097010
|
|
|
NM_014334.4(FRRS1L):c.624C>A (p.Arg208=)
|
rs774532898
|
|
|
NM_014334.4(FRRS1L):c.654T>C (p.Ile218=)
|
rs2118467535
|
|
|
NM_014334.4(FRRS1L):c.660T>C (p.Asp220=)
|
|
|
|
NM_014334.4(FRRS1L):c.661C>T (p.Leu221=)
|
|
|
|
NM_014334.4(FRRS1L):c.663G>A (p.Leu221=)
|
|
|
|
NM_014334.4(FRRS1L):c.690T>C (p.Ala230=)
|
|
|
|
NM_014334.4(FRRS1L):c.709+19A>G
|
|
|
|
NM_014334.4(FRRS1L):c.710-20C>T
|
|
|
|
NM_014334.4(FRRS1L):c.710-7C>G
|
rs1564227777
|
|
|
NM_014334.4(FRRS1L):c.717C>T (p.Ile239=)
|
|
|
|
NM_014334.4(FRRS1L):c.735C>T (p.Asp245=)
|
|
|
|
NM_014334.4(FRRS1L):c.771C>T (p.Tyr257=)
|
rs1432798763
|
|
|
NM_014334.4(FRRS1L):c.813C>T (p.Thr271=)
|
rs2118459091
|
|
|
NM_014334.4(FRRS1L):c.822T>A (p.Ser274=)
|
rs2118459042
|
|
|
NM_014334.4(FRRS1L):c.852G>A (p.Leu284=)
|
rs1588095618
|
|
|
NM_014334.4(FRRS1L):c.862C>T (p.Leu288=)
|
|
|
|
NM_014334.4(FRRS1L):c.879C>T (p.Pro293=)
|
|
|
|
NM_014334.4(FRRS1L):c.90C>G (p.Pro30=)
|
|
|
|
NM_014334.4(FRRS1L):c.90C>T (p.Pro30=)
|
rs1037617722
|
|
|
NM_015192.4(PLCB1):c.100-5del
|
rs2051496558
|
|
|
NM_015192.4(PLCB1):c.1010-12G>C
|
rs2123427869
|
|
|
NM_015192.4(PLCB1):c.1010-16T>C
|
|
|
|
NM_015192.4(PLCB1):c.1010-5T>G
|
|
|
|
NM_015192.4(PLCB1):c.1011T>C (p.Ala337=)
|
|
|
|
NM_015192.4(PLCB1):c.1020G>T (p.Leu340=)
|
rs1026746331
|
|
|
NM_015192.4(PLCB1):c.1023T>A (p.Ala341=)
|
rs2123427957
|
|
|
NM_015192.4(PLCB1):c.1023T>C (p.Ala341=)
|
|
|
|
NM_015192.4(PLCB1):c.1056G>A (p.Val352=)
|
|
|
|
NM_015192.4(PLCB1):c.1149A>T (p.Thr383=)
|
rs1600258498
|
|
|
NM_015192.4(PLCB1):c.1167+9T>C
|
rs202247297
|
|
|
NM_015192.4(PLCB1):c.1168-17T>C
|
|
|
|
NM_015192.4(PLCB1):c.1168-19C>T
|
|
|
|
NM_015192.4(PLCB1):c.1168-20A>G
|
|
|
|
NM_015192.4(PLCB1):c.1179A>G (p.Glu393=)
|
|
|
|
NM_015192.4(PLCB1):c.1206T>C (p.Thr402=)
|
rs1244012742
|
|
|
NM_015192.4(PLCB1):c.1218A>G (p.Pro406=)
|
|
|
|
NM_015192.4(PLCB1):c.1250+10C>T
|
rs2123451946
|
|
|
NM_015192.4(PLCB1):c.1251-12G>A
|
|
|
|
NM_015192.4(PLCB1):c.1251-12G>T
|
|
|
|
NM_015192.4(PLCB1):c.1251-20C>T
|
rs2123465564
|
|
|
NM_015192.4(PLCB1):c.1251-5C>T
|
rs1232990898
|
|
|
NM_015192.4(PLCB1):c.1263A>G (p.Gln421=)
|
rs2123465618
|
|
|
NM_015192.4(PLCB1):c.1281C>T (p.Tyr427=)
|
|
|
|
NM_015192.4(PLCB1):c.1317G>A (p.Glu439=)
|
|
|
|
NM_015192.4(PLCB1):c.1320C>A (p.Pro440=)
|
rs2123465748
|
|
|
NM_015192.4(PLCB1):c.1335+11C>G
|
|
|
|
NM_015192.4(PLCB1):c.1336-13dup
|
|
|
|
NM_015192.4(PLCB1):c.1365T>C (p.Pro455=)
|
rs1979399173
|
|
|
NM_015192.4(PLCB1):c.1389G>A (p.Leu463=)
|
|
|
|
NM_015192.4(PLCB1):c.1401G>A (p.Lys467=)
|
|
|
|
NM_015192.4(PLCB1):c.1416G>A (p.Lys472=)
|
|
|
|
NM_015192.4(PLCB1):c.1434C>A (p.Gly478=)
|
rs13042785
|
|
|
NM_015192.4(PLCB1):c.1449A>G (p.Ser483=)
|
|
|
|
NM_015192.4(PLCB1):c.1464C>T (p.Asn488=)
|
|
|
|
NM_015192.4(PLCB1):c.1467C>G (p.Thr489=)
|
rs1319689571
|
|
|
NM_015192.4(PLCB1):c.1514-17T>C
|
|
|
|
NM_015192.4(PLCB1):c.1527G>A (p.Thr509=)
|
rs141857911
|
|
|
NM_015192.4(PLCB1):c.1527G>C (p.Thr509=)
|
rs141857911
|
|
|
NM_015192.4(PLCB1):c.1581+20G>C
|
|
|
|
NM_015192.4(PLCB1):c.1582-11C>A
|
|
|
|
NM_015192.4(PLCB1):c.1582-16T>C
|
rs2123482619
|
|
|
NM_015192.4(PLCB1):c.1582-20T>C
|
rs978161914
|
|
|
NM_015192.4(PLCB1):c.1582-20T>G
|
|
|
|
NM_015192.4(PLCB1):c.1582-6T>G
|
rs763270303
|
|
|
NM_015192.4(PLCB1):c.1584G>C (p.Gly528=)
|
rs957436764
|
|
|
NM_015192.4(PLCB1):c.1587T>C (p.Thr529=)
|
|
|
|
NM_015192.4(PLCB1):c.159C>T (p.Tyr53=)
|
|
|
|
NM_015192.4(PLCB1):c.1623T>C (p.Ser541=)
|
|
|
|
NM_015192.4(PLCB1):c.1653G>A (p.Lys551=)
|
|
|
|
NM_015192.4(PLCB1):c.1678+14G>A
|
|
|
|
NM_015192.4(PLCB1):c.1679-20T>G
|
|
|
|
NM_015192.4(PLCB1):c.1722A>G (p.Lys574=)
|
|
|
|
NM_015192.4(PLCB1):c.1740C>T (p.Thr580=)
|
rs2123487994
|
|
|
NM_015192.4(PLCB1):c.1746T>G (p.Ser582=)
|
|
|
|
NM_015192.4(PLCB1):c.1763+16C>T
|
|
|
|
NM_015192.4(PLCB1):c.1764-12A>G
|
rs1377870470
|
|
|
NM_015192.4(PLCB1):c.1764-7G>T
|
|
|
|
NM_015192.4(PLCB1):c.177+10G>A
|
rs2123032657
|
|
|
NM_015192.4(PLCB1):c.177+13G>A
|
|
|
|
NM_015192.4(PLCB1):c.177+16T>C
|
|
|
|
NM_015192.4(PLCB1):c.177+8A>G
|
rs2051497659
|
|
|
NM_015192.4(PLCB1):c.1785C>T (p.Ser595=)
|
|
|
|
NM_015192.4(PLCB1):c.1854T>C (p.Gly618=)
|
rs559952614
|
|
|
NM_015192.4(PLCB1):c.1888+17T>A
|
|
|
|
NM_015192.4(PLCB1):c.1888+9A>G
|
rs371050904
|
|
|
NM_015192.4(PLCB1):c.1889-17G>T
|
|
|
|
NM_015192.4(PLCB1):c.1889-6A>G
|
rs754796840
|
|
|
NM_015192.4(PLCB1):c.189A>G (p.Leu63=)
|
rs2122343551
|
|
|
NM_015192.4(PLCB1):c.18C>T (p.Pro6=)
|
rs745497485
|
|
|
NM_015192.4(PLCB1):c.1902A>G (p.Gln634=)
|
|
|
|
NM_015192.4(PLCB1):c.1908T>C (p.Asn636=)
|
rs778595698
|
|
|
NM_015192.4(PLCB1):c.1938T>C (p.Ser646=)
|
|
|
|
NM_015192.4(PLCB1):c.1944C>T (p.Tyr648=)
|
rs200073364
|
|
|
NM_015192.4(PLCB1):c.1956A>G (p.Pro652=)
|
rs2123500900
|
|
|
NM_015192.4(PLCB1):c.1971G>A (p.Arg657=)
|
rs1184814410
|
|
|
NM_015192.4(PLCB1):c.1992A>G (p.Pro664=)
|
|
|
|
NM_015192.4(PLCB1):c.2037T>G (p.Ser679=)
|
rs1980374821
|
|
|
NM_015192.4(PLCB1):c.2043+10C>A
|
|
|
|
NM_015192.4(PLCB1):c.2043+12C>A
|
rs2123501040
|
|
|
NM_015192.4(PLCB1):c.2044-7T>C
|
rs1600286973
|
|
|
NM_015192.4(PLCB1):c.204T>G (p.Leu68=)
|
|
|
|
NM_015192.4(PLCB1):c.2055T>C (p.Gly685=)
|
|
|
|
NM_015192.4(PLCB1):c.2076A>G (p.Lys692=)
|
|
|
|
NM_015192.4(PLCB1):c.2079T>C (p.Val693=)
|
|
|
|
NM_015192.4(PLCB1):c.2082G>T (p.Gly694=)
|
|
|
|
NM_015192.4(PLCB1):c.2100T>C (p.Asp700=)
|
rs1810685406
|
|
|
NM_015192.4(PLCB1):c.2133G>A (p.Lys711=)
|
rs1980624026
|
|
|
NM_015192.4(PLCB1):c.2209-8C>G
|
|
|
|
NM_015192.4(PLCB1):c.2209-9C>A
|
|
|
|
NM_015192.4(PLCB1):c.2256A>G (p.Glu752=)
|
|
|
|
NM_015192.4(PLCB1):c.2308+10G>C
|
|
|
|
NM_015192.4(PLCB1):c.2308+11T>C
|
|
|
|
NM_015192.4(PLCB1):c.2309-5T>C
|
rs2123518557
|
|
|
NM_015192.4(PLCB1):c.2316C>T (p.His772=)
|
|
|
|
NM_015192.4(PLCB1):c.2413+20T>C
|
|
|
|
NM_015192.4(PLCB1):c.2413+8A>G
|
rs1332027028
|
|
|
NM_015192.4(PLCB1):c.2414-17A>C
|
|
|
|
NM_015192.4(PLCB1):c.2414-6A>G
|
rs1980876450
|
|
|
NM_015192.4(PLCB1):c.2442C>A (p.Ile814=)
|
|
|
|
NM_015192.4(PLCB1):c.2448T>C (p.Tyr816=)
|
rs2123521345
|
|
|
NM_015192.4(PLCB1):c.2457G>A (p.Leu819=)
|
|
|
|
NM_015192.4(PLCB1):c.246+18del
|
|
|
|
NM_015192.4(PLCB1):c.246+19T>G
|
|
|
|
NM_015192.4(PLCB1):c.246+9T>C
|
rs2122343882
|
|
|
NM_015192.4(PLCB1):c.2466G>A (p.Gln822=)
|
rs2123521405
|
|
|
NM_015192.4(PLCB1):c.247-13A>G
|
|
|
|
NM_015192.4(PLCB1):c.247-4C>T
|
rs1183324381
|
|
|
NM_015192.4(PLCB1):c.2478A>G (p.Gln826=)
|
|
|
|
NM_015192.4(PLCB1):c.2523+11G>A
|
rs2123521619
|
|
|
NM_015192.4(PLCB1):c.2523+17A>G
|
|
|
|
NM_015192.4(PLCB1):c.2524-17G>C
|
|
|
|
NM_015192.4(PLCB1):c.252C>A (p.Pro84=)
|
|
|
|
NM_015192.4(PLCB1):c.2538A>G (p.Glu846=)
|
|
|
|
NM_015192.4(PLCB1):c.2547A>G (p.Ser849=)
|
rs995924752
|
|
|
NM_015192.4(PLCB1):c.2571G>A (p.Thr857=)
|
rs995077080
|
|
|
NM_015192.4(PLCB1):c.2598C>T (p.His866=)
|
|
|
|
NM_015192.4(PLCB1):c.2607C>T (p.Thr869=)
|
|
|
|
NM_015192.4(PLCB1):c.2625C>G (p.Pro875=)
|
rs1600302170
|
|
|
NM_015192.4(PLCB1):c.2628C>T (p.Ser876=)
|
rs747869213
|
|
|
NM_015192.4(PLCB1):c.2656+19G>T
|
rs1254067033
|
|
|
NM_015192.4(PLCB1):c.2656+20C>G
|
|
|
|
NM_015192.4(PLCB1):c.2657-10T>A
|
|
|
|
NM_015192.4(PLCB1):c.2657-10T>C
|
|
|
|
NM_015192.4(PLCB1):c.2657-18T>G
|
|
|
|
NM_015192.4(PLCB1):c.2657-19_2657-15del
|
rs2123571999
|
|
|
NM_015192.4(PLCB1):c.2657-4A>G
|
rs777637262
|
|
|
NM_015192.4(PLCB1):c.2658T>A (p.Gly886=)
|
rs1420202284
|
|
|
NM_015192.4(PLCB1):c.2710+17C>T
|
|
|
|
NM_015192.4(PLCB1):c.2710+8C>G
|
rs1981963703
|
|
|
NM_015192.4(PLCB1):c.2711-11A>C
|
|
|
|
NM_015192.4(PLCB1):c.2711-13T>C
|
|
|
|
NM_015192.4(PLCB1):c.2711-16T>C
|
rs2123585570
|
|
|
NM_015192.4(PLCB1):c.2711-20T>C
|
|
|
|
NM_015192.4(PLCB1):c.2711-9T>C
|
|
|
|
NM_015192.4(PLCB1):c.2712A>G (p.Glu904=)
|
rs2123585641
|
|
|
NM_015192.4(PLCB1):c.2754G>T (p.Ser918=)
|
|
|
|
NM_015192.4(PLCB1):c.2796C>T (p.Asp932=)
|
|
|
|
NM_015192.4(PLCB1):c.282C>T (p.Asn94=)
|
rs1988422042
|
|
|
NM_015192.4(PLCB1):c.2835C>T (p.Ile945=)
|
|
|
|
NM_015192.4(PLCB1):c.285C>T (p.Ile95=)
|
|
|
|
NM_015192.4(PLCB1):c.2901A>G (p.Glu967=)
|
|
|
|
NM_015192.4(PLCB1):c.2931-8C>G
|
rs1982848887
|
|
|
NM_015192.4(PLCB1):c.2958T>C (p.Gly986=)
|
rs1273351024
|
|
|
NM_015192.4(PLCB1):c.2997T>C (p.Ala999=)
|
|
|
|
NM_015192.4(PLCB1):c.3048G>A (p.Leu1016=)
|
|
|
|
NM_015192.4(PLCB1):c.3072T>C (p.Tyr1024=)
|
|
|
|
NM_015192.4(PLCB1):c.3093G>A (p.Lys1031=)
|
rs2146203971
|
|
|
NM_015192.4(PLCB1):c.3111+16A>C
|
|
|
|
NM_015192.4(PLCB1):c.3112-15A>G
|
|
|
|
NM_015192.4(PLCB1):c.3112-7T>C
|
rs2146220088
|
|
|
NM_015192.4(PLCB1):c.3114T>C (p.Leu1038=)
|
|
|
|
NM_015192.4(PLCB1):c.3129G>A (p.Thr1043=)
|
rs141102170
|
|
|
NM_015192.4(PLCB1):c.312A>G (p.Thr104=)
|
rs776521907
|
|
|
NM_015192.4(PLCB1):c.3135C>A (p.Val1045=)
|
rs577076166
|
|
|
NM_015192.4(PLCB1):c.3135C>T (p.Val1045=)
|
rs577076166
|
|
|
NM_015192.4(PLCB1):c.3138A>G (p.Ala1046=)
|
|
|
|
NM_015192.4(PLCB1):c.3141A>G (p.Glu1047=)
|
rs1983595733
|
|
|
NM_015192.4(PLCB1):c.3180C>A (p.Ile1060=)
|
rs1043961648
|
|
|
NM_015192.4(PLCB1):c.3180C>T (p.Ile1060=)
|
|
|
|
NM_015192.4(PLCB1):c.3188+14C>A
|
rs2146220288
|
|
|
NM_015192.4(PLCB1):c.3188+16C>T
|
|
|
|
NM_015192.4(PLCB1):c.3188+17A>G
|
|
|
|
NM_015192.4(PLCB1):c.3188+20A>G
|
|
|
|
NM_015192.4(PLCB1):c.3189-18C>T
|
rs2146220402
|
|
|
NM_015192.4(PLCB1):c.3189-8G>A
|
rs2146220422
|
|
|
NM_015192.4(PLCB1):c.3237G>A (p.Lys1079=)
|
|
|
|
NM_015192.4(PLCB1):c.3249T>G (p.Ala1083=)
|
|
|
|
NM_015192.4(PLCB1):c.3278+16C>A
|
|
|
|
NM_015192.4(PLCB1):c.3279-9del
|
rs1983650147
|
|
|
NM_015192.4(PLCB1):c.3321G>A (p.Val1107=)
|
rs1600329135
|
|
|
NM_015192.4(PLCB1):c.3336+18G>A
|
|
|
|
NM_015192.4(PLCB1):c.3336+18G>T
|
|
|
|
NM_015192.4(PLCB1):c.3337-15G>A
|
|
|
|
NM_015192.4(PLCB1):c.3348G>C (p.Ala1116=)
|
rs587780417
|
|
|
NM_015192.4(PLCB1):c.3360G>A (p.Arg1120=)
|
rs2146222865
|
|
|
NM_015192.4(PLCB1):c.3411T>C (p.Asp1137=)
|
|
|
|
NM_015192.4(PLCB1):c.3420C>A (p.Pro1140=)
|
rs1213422177
|
|
|
NM_015192.4(PLCB1):c.3423+12T>G
|
rs1041619042
|
|
|
NM_015192.4(PLCB1):c.3423+18A>C
|
|
|
|
NM_015192.4(PLCB1):c.3423+18A>T
|
rs201519375
|
|
|
NM_015192.4(PLCB1):c.3424-11A>G
|
|
|
|
NM_015192.4(PLCB1):c.3424-17C>T
|
|
|
|
NM_015192.4(PLCB1):c.3424-18C>T
|
|
|
|
NM_015192.4(PLCB1):c.3424-19C>T
|
rs2146337482
|
|
|
NM_015192.4(PLCB1):c.3477C>A (p.Leu1159=)
|
|
|
|
NM_015192.4(PLCB1):c.3513A>C (p.Gly1171=)
|
|
|
|
NM_015192.4(PLCB1):c.3513A>G (p.Gly1171=)
|
rs781577271
|
|
|
NM_015192.4(PLCB1):c.3537C>T (p.His1179=)
|
|
|
|
NM_015192.4(PLCB1):c.3546C>T (p.Ala1182=)
|
rs148236379
|
|
|
NM_015192.4(PLCB1):c.3549T>A (p.Pro1183=)
|
rs780459225
|
|
|
NM_015192.4(PLCB1):c.3552C>T (p.Leu1184=)
|
rs1008953911
|
|
|
NM_015192.4(PLCB1):c.3603G>A (p.Glu1201=)
|
|
|
|
NM_015192.4(PLCB1):c.360G>T (p.Val120=)
|
|
|
|
NM_015192.4(PLCB1):c.3648G>C (p.Leu1216=)
|
rs2146337863
|
|
|
NM_015192.4(PLCB1):c.378G>T (p.Val126=)
|
|
|
|
NM_015192.4(PLCB1):c.384+17T>C
|
|
|
|
NM_015192.4(PLCB1):c.385-15A>C
|
|
|
|
NM_015192.4(PLCB1):c.420C>T (p.Asn140=)
|
|
|
|
NM_015192.4(PLCB1):c.423G>A (p.Leu141=)
|
|
|
|
NM_015192.4(PLCB1):c.441C>G (p.Ser147=)
|
rs1031381948
|
|
|
NM_015192.4(PLCB1):c.450A>G (p.Ala150=)
|
|
|
|
NM_015192.4(PLCB1):c.45C>A (p.Pro15=)
|
rs540174506
|
|
|
NM_015192.4(PLCB1):c.45C>G (p.Pro15=)
|
rs540174506
|
|
|
NM_015192.4(PLCB1):c.464+14A>T
|
|
|
|
NM_015192.4(PLCB1):c.464+16T>C
|
|
|
|
NM_015192.4(PLCB1):c.464+18T>A
|
|
|
|
NM_015192.4(PLCB1):c.464+20T>C
|
rs2123286146
|
|
|
NM_015192.4(PLCB1):c.464+7C>G
|
rs1193936118
|
|
|
NM_015192.4(PLCB1):c.465-13G>C
|
|
|
|
NM_015192.4(PLCB1):c.465-14T>C
|
|
|
|
NM_015192.4(PLCB1):c.483G>T (p.Leu161=)
|
rs1989210406
|
|
|
NM_015192.4(PLCB1):c.492T>C (p.Thr164=)
|
|
|
|
NM_015192.4(PLCB1):c.507T>A (p.Ile169=)
|
|
|
|
NM_015192.4(PLCB1):c.518+14G>A
|
|
|
|
NM_015192.4(PLCB1):c.519-10C>T
|
rs2123294964
|
|
|
NM_015192.4(PLCB1):c.519-13G>A
|
rs2123294946
|
|
|
NM_015192.4(PLCB1):c.519-18G>A
|
|
|
|
NM_015192.4(PLCB1):c.519-19T>C
|
rs754810660
|
|
|
NM_015192.4(PLCB1):c.519-20T>C
|
rs2123294914
|
|
|
NM_015192.4(PLCB1):c.519-7_519-3del
|
rs2123294953
|
|
|
NM_015192.4(PLCB1):c.550C>A (p.Arg184=)
|
rs770826618
|
|
|
NM_015192.4(PLCB1):c.585A>G (p.Pro195=)
|
|
|
|
NM_015192.4(PLCB1):c.595-14_595-12del
|
|
|
|
NM_015192.4(PLCB1):c.595-18C>T
|
|
|
|
NM_015192.4(PLCB1):c.630A>G (p.Glu210=)
|
|
|
|
NM_015192.4(PLCB1):c.633G>T (p.Val211=)
|
|
|
|
NM_015192.4(PLCB1):c.63C>T (p.Ser21=)
|
rs1256957868
|
|
|
NM_015192.4(PLCB1):c.672A>G (p.Glu224=)
|
rs1555780720
|
|
|
NM_015192.4(PLCB1):c.695+11A>G
|
|
|
|
NM_015192.4(PLCB1):c.695+20G>A
|
rs752982923
|
|
|
NM_015192.4(PLCB1):c.695+9A>G
|
rs2123319106
|
|
|
NM_015192.4(PLCB1):c.696-8G>C
|
rs1600230967
|
|
|
NM_015192.4(PLCB1):c.696-9del
|
rs769183508
|
|
|
NM_015192.4(PLCB1):c.6C>G (p.Ala2=)
|
rs752168839
|
|
|
NM_015192.4(PLCB1):c.6C>T (p.Ala2=)
|
rs752168839
|
|
|
NM_015192.4(PLCB1):c.777T>C (p.Asn259=)
|
|
|
|
NM_015192.4(PLCB1):c.855C>T (p.Ala285=)
|
rs1989536075
|
|
|
NM_015192.4(PLCB1):c.862+12C>G
|
|
|
|
NM_015192.4(PLCB1):c.862+13_862+16del
|
|
|
|
NM_015192.4(PLCB1):c.862+18C>T
|
|
|
|
NM_015192.4(PLCB1):c.862+19A>G
|
|
|
|
NM_015192.4(PLCB1):c.863-15C>T
|
rs2123399297
|
|
|
NM_015192.4(PLCB1):c.882G>A (p.Gly294=)
|
|
|
|
NM_015192.4(PLCB1):c.885C>T (p.Phe295=)
|
|
|
|
NM_015192.4(PLCB1):c.903A>G (p.Gly301=)
|
rs1990323891
|
|
|
NM_015192.4(PLCB1):c.90G>A (p.Lys30=)
|
rs777647424
|
|
|
NM_015192.4(PLCB1):c.918C>T (p.Val306=)
|
rs1600250108
|
|
|
NM_015192.4(PLCB1):c.972C>T (p.His324=)
|
rs1289654666
|
|
|
NM_015192.4(PLCB1):c.99+19C>T
|
|
|
|
NM_015509.4(NECAP1):c.117C>T (p.Asp39=)
|
|
|
|
NM_015509.4(NECAP1):c.126T>C (p.Asp42=)
|
rs970227105
|
|
|
NM_015509.4(NECAP1):c.12G>A (p.Glu4=)
|
|
|
|
NM_015509.4(NECAP1):c.18G>A (p.Glu6=)
|
rs780652766
|
|
|
NM_015509.4(NECAP1):c.196+12G>C
|
rs371530521
|
|
|
NM_015509.4(NECAP1):c.196+20C>G
|
rs2120476352
|
|
|
NM_015509.4(NECAP1):c.197-16T>C
|
|
|
|
NM_015509.4(NECAP1):c.197-19T>C
|
|
|
|
NM_015509.4(NECAP1):c.197-5G>C
|
|
|
|
NM_015509.4(NECAP1):c.197-8T>C
|
rs757344160
|
|
|
NM_015509.4(NECAP1):c.210T>C (p.Ala70=)
|
|
|
|
NM_015509.4(NECAP1):c.21C>T (p.Tyr7=)
|
|
|
|
NM_015509.4(NECAP1):c.228A>G (p.Gln76=)
|
|
|
|
NM_015509.4(NECAP1):c.301+13G>A
|
|
|
|
NM_015509.4(NECAP1):c.302-11G>A
|
rs765403528
|
|
|
NM_015509.4(NECAP1):c.302-11G>T
|
rs765403528
|
|
|
NM_015509.4(NECAP1):c.302-5C>T
|
|
|
|
NM_015509.4(NECAP1):c.30G>A (p.Val10=)
|
|
|
|
NM_015509.4(NECAP1):c.315C>T (p.Phe105=)
|
rs2120482419
|
|
|
NM_015509.4(NECAP1):c.351C>T (p.Phe117=)
|
|
|
|
NM_015509.4(NECAP1):c.372G>A (p.Gln124=)
|
rs2120482694
|
|
|
NM_015509.4(NECAP1):c.383+11dup
|
rs2120482806
|
|
|
NM_015509.4(NECAP1):c.383+13T>A
|
|
|
|
NM_015509.4(NECAP1):c.383+13del
|
|
|
|
NM_015509.4(NECAP1):c.383+15T>C
|
|
|
|
NM_015509.4(NECAP1):c.384-12G>A
|
|
|
|
NM_015509.4(NECAP1):c.384-15G>A
|
|
|
|
NM_015509.4(NECAP1):c.393G>A (p.Lys131=)
|
|
|
|
NM_015509.4(NECAP1):c.492+15T>C
|
rs2120485872
|
|
|
NM_015509.4(NECAP1):c.492+18A>T
|
rs2120485883
|
|
|
NM_015509.4(NECAP1):c.51C>T (p.Val17=)
|
|
|
|
NM_015509.4(NECAP1):c.531G>A (p.Arg177=)
|
|
|
|
NM_015509.4(NECAP1):c.555C>T (p.Ser185=)
|
|
|
|
NM_015509.4(NECAP1):c.570G>A (p.Pro190=)
|
rs148192941
|
|
|
NM_015509.4(NECAP1):c.570G>T (p.Pro190=)
|
rs148192941
|
|
|
NM_015509.4(NECAP1):c.573A>G (p.Pro191=)
|
|
|
|
NM_015509.4(NECAP1):c.579C>A (p.Gly193=)
|
|
|
|
NM_015509.4(NECAP1):c.594C>T (p.Pro198=)
|
rs1947563520
|
|
|
NM_015509.4(NECAP1):c.648G>T (p.Pro216=)
|
rs370869772
|
|
|
NM_015509.4(NECAP1):c.676+10G>A
|
|
|
|
NM_015509.4(NECAP1):c.676+18A>G
|
rs1947564278
|
|
|
NM_015509.4(NECAP1):c.677-12C>T
|
|
|
|
NM_015509.4(NECAP1):c.681C>A (p.Ile227=)
|
|
|
|
NM_015509.4(NECAP1):c.709G>C (p.Val237Leu)
|
rs752918460
|
|
|
NM_015509.4(NECAP1):c.779+19C>T
|
|
|
|
NM_015509.4(NECAP1):c.780-12_780-10del
|
|
|
|
NM_015509.4(NECAP1):c.810C>T (p.Ser270=)
|
|
|
|
NM_015509.4(NECAP1):c.81C>T (p.Ser27=)
|
|
|
|
NM_015509.4(NECAP1):c.93C>T (p.Tyr31=)
|
rs2120448200
|
|
|
NM_015509.4(NECAP1):c.95+10C>G
|
|
|
|
NM_015509.4(NECAP1):c.96-15C>T
|
|
|
|
NM_016373.4(WWOX):c.1011G>C (p.Val337=)
|
rs773816992
|
|
|
NM_016373.4(WWOX):c.1021C>T (p.Leu341=)
|
rs201616456
|
|
|
NM_016373.4(WWOX):c.1023G>C (p.Leu341=)
|
|
|
|
NM_016373.4(WWOX):c.102C>T (p.Tyr34=)
|
|
|
|
NM_016373.4(WWOX):c.1047C>A (p.Thr349=)
|
rs940453353
|
|
|
NM_016373.4(WWOX):c.1050G>A (p.Lys350=)
|
rs2151386362
|
|
|
NM_016373.4(WWOX):c.1056+13C>A
|
|
|
|
NM_016373.4(WWOX):c.1056+18G>A
|
|
|
|
NM_016373.4(WWOX):c.1056+20C>T
|
|
|
|
NM_016373.4(WWOX):c.1056+7_1056+9del
|
|
|
|
NM_016373.4(WWOX):c.1057-10G>C
|
|
|
|
NM_016373.4(WWOX):c.1057-13_1057-11del
|
|
|
|
NM_016373.4(WWOX):c.1057-14_1057-13insTCTC
|
|
|
|
NM_016373.4(WWOX):c.1057-17_1057-14del
|
rs750753794
|
|
|
NM_016373.4(WWOX):c.1057-18_1057-17dup
|
rs1412456452
|
|
|
NM_016373.4(WWOX):c.1057-20C>T
|
|
|
|
NM_016373.4(WWOX):c.1057-22_1057-19del
|
|
|
|
NM_016373.4(WWOX):c.1057-22_1057-20del
|
rs2150867224
|
|
|
NM_016373.4(WWOX):c.1057-7T>C
|
|
|
|
NM_016373.4(WWOX):c.1057-9G>C
|
|
|
|
NM_016373.4(WWOX):c.1057-9_1057-6dup
|
rs2150867300
|
|
|
NM_016373.4(WWOX):c.107+10C>G
|
|
|
|
NM_016373.4(WWOX):c.107+10C>T
|
|
|
|
NM_016373.4(WWOX):c.107+12G>C
|
|
|
|
NM_016373.4(WWOX):c.107+13C>T
|
|
|
|
NM_016373.4(WWOX):c.107+15G>A
|
|
|
|
NM_016373.4(WWOX):c.107+17G>C
|
|
|
|
NM_016373.4(WWOX):c.1077C>G (p.Thr359=)
|
rs150912992
|
|
|
NM_016373.4(WWOX):c.108-12G>C
|
|
|
|
NM_016373.4(WWOX):c.108-12_108-11del
|
rs756598479
|
|
|
NM_016373.4(WWOX):c.108-12_108-6del
|
|
|
|
NM_016373.4(WWOX):c.108-14T>C
|
|
|
|
NM_016373.4(WWOX):c.108-19A>T
|
|
|
|
NM_016373.4(WWOX):c.108-20G>A
|
rs760210735
|
|
|
NM_016373.4(WWOX):c.108-7T>C
|
rs2151665632
|
|
|
NM_016373.4(WWOX):c.1083C>T (p.Tyr361=)
|
|
|
|
NM_016373.4(WWOX):c.1086T>C (p.Cys362=)
|
rs755448649
|
|
|
NM_016373.4(WWOX):c.1102C>T (p.Leu368=)
|
|
|
|
NM_016373.4(WWOX):c.1110T>A (p.Gly370=)
|
rs901897952
|
|
|
NM_016373.4(WWOX):c.1110T>G (p.Gly370=)
|
|
|
|
NM_016373.4(WWOX):c.1113G>A (p.Leu371=)
|
|
|
|
NM_016373.4(WWOX):c.1113G>T (p.Leu371=)
|
rs2150867604
|
|
|
NM_016373.4(WWOX):c.1119G>C (p.Gly373=)
|
|
|
|
NM_016373.4(WWOX):c.1128C>T (p.Phe376=)
|
rs1417388410
|
|
|
NM_016373.4(WWOX):c.1155A>C (p.Ser385=)
|
rs1414101968
|
|
|
NM_016373.4(WWOX):c.1182C>G (p.Ala394=)
|
|
|
|
NM_016373.4(WWOX):c.1183C>A (p.Arg395=)
|
|
|
|
NM_016373.4(WWOX):c.1185G>C (p.Arg395=)
|
rs1296581246
|
|
|
NM_016373.4(WWOX):c.1188C>A (p.Thr396=)
|
rs923268639
|
|
|
NM_016373.4(WWOX):c.1189C>T (p.Leu397=)
|
|
|
|
NM_016373.4(WWOX):c.1191G>C (p.Leu397=)
|
rs749223740
|
|
|
NM_016373.4(WWOX):c.1197G>T (p.Ala399=)
|
rs376935572
|
|
|
NM_016373.4(WWOX):c.1206G>A (p.Glu402=)
|
rs923748427
|
|
|
NM_016373.4(WWOX):c.1209G>A (p.Arg403=)
|
rs764726398
|
|
|
NM_016373.4(WWOX):c.1218A>G (p.Gln406=)
|
|
|
|
NM_016373.4(WWOX):c.1230C>A (p.Gly410=)
|
|
|
|
NM_016373.4(WWOX):c.1230C>G (p.Gly410=)
|
rs778834456
|
|
|
NM_016373.4(WWOX):c.1236G>A (p.Gln412=)
|
|
|
|
NM_016373.4(WWOX):c.1239C>G (p.Ser413=)
|
rs199576434
|
|
|
NM_016373.4(WWOX):c.1242C>T (p.Gly414=)
|
rs557367276
|
|
|
NM_016373.4(WWOX):c.12G>A (p.Leu4=)
|
rs2151651643
|
|
|
NM_016373.4(WWOX):c.138T>C (p.His46=)
|
|
|
|
NM_016373.4(WWOX):c.160C>A (p.Arg54=)
|
rs587777248
|
|
|
NM_016373.4(WWOX):c.165G>A (p.Val55=)
|
|
|
|
NM_016373.4(WWOX):c.172+10T>A
|
rs2032295814
|
|
|
NM_016373.4(WWOX):c.172+15G>T
|
|
|
|
NM_016373.4(WWOX):c.172+17C>G
|
|
|
|
NM_016373.4(WWOX):c.172+9G>A
|
rs1220647416
|
|
|
NM_016373.4(WWOX):c.173-10T>G
|
rs960259890
|
|
|
NM_016373.4(WWOX):c.173-12C>G
|
|
|
|
NM_016373.4(WWOX):c.173-14T>G
|
|
|
|
NM_016373.4(WWOX):c.173-20C>G
|
|
|
|
NM_016373.4(WWOX):c.173-4T>G
|
|
|
|
NM_016373.4(WWOX):c.18C>T (p.Tyr6=)
|
|
|
|
NM_016373.4(WWOX):c.228T>A (p.Val76=)
|
rs370579498
|
|
|
NM_016373.4(WWOX):c.230+9C>T
|
rs1254974575
|
|
|
NM_016373.4(WWOX):c.231-10T>C
|
|
|
|
NM_016373.4(WWOX):c.231-16T>C
|
rs376333974
|
|
|
NM_016373.4(WWOX):c.231-17C>A
|
rs372361154
|
|
|
NM_016373.4(WWOX):c.231-17C>T
|
|
|
|
NM_016373.4(WWOX):c.231-18G>T
|
|
|
|
NM_016373.4(WWOX):c.231-7T>C
|
|
|
|
NM_016373.4(WWOX):c.231-8T>G
|
rs776271651
|
|
|
NM_016373.4(WWOX):c.240T>C (p.Asn80=)
|
|
|
|
NM_016373.4(WWOX):c.252C>T (p.Thr84=)
|
|
|
|
NM_016373.4(WWOX):c.261C>T (p.Asp87=)
|
|
|
|
NM_016373.4(WWOX):c.276T>C (p.Phe92=)
|
|
|
|
NM_016373.4(WWOX):c.294G>A (p.Pro98=)
|
|
|
|
NM_016373.4(WWOX):c.294G>C (p.Pro98=)
|
rs200208343
|
|
|
NM_016373.4(WWOX):c.306C>T (p.Thr102=)
|
|
|
|
NM_016373.4(WWOX):c.30C>T (p.Asp10=)
|
rs373146723
|
|
|
NM_016373.4(WWOX):c.310C>A (p.Arg104=)
|
rs750226191
|
|
|
NM_016373.4(WWOX):c.333C>T (p.Thr111=)
|
|
|
|
NM_016373.4(WWOX):c.360G>A (p.Arg120=)
|
|
|
|
NM_016373.4(WWOX):c.36G>A (p.Thr12=)
|
rs1438602210
|
|
|
NM_016373.4(WWOX):c.36G>C (p.Thr12=)
|
rs1438602210
|
|
|
NM_016373.4(WWOX):c.36G>T (p.Thr12=)
|
rs1438602210
|
|
|
NM_016373.4(WWOX):c.375A>G (p.Lys125=)
|
|
|
|
NM_016373.4(WWOX):c.409+10T>C
|
rs2151674977
|
|
|
NM_016373.4(WWOX):c.409+16A>G
|
rs12934985
|
|
|
NM_016373.4(WWOX):c.409+16A>T
|
rs12934985
|
|
|
NM_016373.4(WWOX):c.409+16_409+17delinsCA
|
rs2151674999
|
|
|
NM_016373.4(WWOX):c.409+17G>T
|
rs771445250
|
|
|
NM_016373.4(WWOX):c.409+8C>G
|
|
|
|
NM_016373.4(WWOX):c.410-14C>T
|
|
|
|
NM_016373.4(WWOX):c.410-15T>A
|
|
|
|
NM_016373.4(WWOX):c.410-4A>G
|
rs183410581
|
|
|
NM_016373.4(WWOX):c.410-6C>T
|
rs1488901499
|
|
|
NM_016373.4(WWOX):c.411G>T (p.Gly137=)
|
rs1172090882
|
|
|
NM_016373.4(WWOX):c.423C>G (p.Ala141=)
|
|
|
|
NM_016373.4(WWOX):c.459G>A (p.Leu153=)
|
|
|
|
NM_016373.4(WWOX):c.45G>A (p.Glu15=)
|
rs770319919
|
|
|
NM_016373.4(WWOX):c.462C>G (p.Ala154=)
|
rs1167825014
|
|
|
NM_016373.4(WWOX):c.462C>T (p.Ala154=)
|
rs1167825014
|
|
|
NM_016373.4(WWOX):c.468G>A (p.Arg156=)
|
|
|
|
NM_016373.4(WWOX):c.477A>T (p.Ala159=)
|
|
|
|
NM_016373.4(WWOX):c.480G>A (p.Arg160=)
|
rs919851150
|
|
|
NM_016373.4(WWOX):c.483G>A (p.Ala161=)
|
rs143067173
|
|
|
NM_016373.4(WWOX):c.495G>C (p.Val165=)
|
|
|
|
NM_016373.4(WWOX):c.498A>G (p.Ser166=)
|
|
|
|
NM_016373.4(WWOX):c.516+12A>G
|
|
|
|
NM_016373.4(WWOX):c.516+14T>A
|
rs779863445
|
|
|
NM_016373.4(WWOX):c.516+14TGT[2]
|
rs757933432
|
|
|
NM_016373.4(WWOX):c.516+16T>C
|
|
|
|
NM_016373.4(WWOX):c.516+19T>A
|
rs2034899735
|
|
|
NM_016373.4(WWOX):c.516+6_516+7delinsCT
|
rs2151735603
|
|
|
NM_016373.4(WWOX):c.517-10C>T
|
|
|
|
NM_016373.4(WWOX):c.517-11T>C
|
rs2151934076
|
|
|
NM_016373.4(WWOX):c.517-12C>A
|
rs373188700
|
|
|
NM_016373.4(WWOX):c.517-19T>C
|
rs1057518552
|
|
|
NM_016373.4(WWOX):c.517-20T>C
|
rs2151934070
|
|
|
NM_016373.4(WWOX):c.517-4G>A
|
|
|
|
NM_016373.4(WWOX):c.517-4G>C
|
|
|
|
NM_016373.4(WWOX):c.517-6T>C
|
|
|
|
NM_016373.4(WWOX):c.517-8C>T
|
|
|
|
NM_016373.4(WWOX):c.517-9T>C
|
|
|
|
NM_016373.4(WWOX):c.531A>G (p.Val177=)
|
rs1451196383
|
|
|
NM_016373.4(WWOX):c.543C>G (p.Thr181=)
|
|
|
|
NM_016373.4(WWOX):c.552C>G (p.Leu184=)
|
rs199715254
|
|
|
NM_016373.4(WWOX):c.555T>A (p.Ala185=)
|
rs748722105
|
|
|
NM_016373.4(WWOX):c.556C>T (p.Leu186=)
|
rs772539448
|
|
|
NM_016373.4(WWOX):c.558G>A (p.Leu186=)
|
rs1464156122
|
|
|
NM_016373.4(WWOX):c.564T>C (p.Arg188=)
|
|
|
|
NM_016373.4(WWOX):c.588A>C (p.Ala196=)
|
|
|
|
NM_016373.4(WWOX):c.588A>G (p.Ala196=)
|
|
|
|
NM_016373.4(WWOX):c.605+10C>A
|
rs201186695
|
|
|
NM_016373.4(WWOX):c.605+12A>T
|
|
|
|
NM_016373.4(WWOX):c.605+13G>A
|
|
|
|
NM_016373.4(WWOX):c.605+18G>A
|
|
|
|
NM_016373.4(WWOX):c.605+7G>A
|
rs900076277
|
|
|
NM_016373.4(WWOX):c.605+7G>C
|
|
|
|
NM_016373.4(WWOX):c.605+9T>G
|
|
|
|
NM_016373.4(WWOX):c.606-14A>G
|
|
|
|
NM_016373.4(WWOX):c.618G>C (p.Val206=)
|
rs376279847
|
|
|
NM_016373.4(WWOX):c.624G>T (p.Val208=)
|
|
|
|
NM_016373.4(WWOX):c.633A>G (p.Ala211=)
|
rs1597215838
|
|
|
NM_016373.4(WWOX):c.63C>T (p.Gly21=)
|
|
|
|
NM_016373.4(WWOX):c.645T>C (p.Ala215=)
|
|
|
|
NM_016373.4(WWOX):c.672C>G (p.Gly224=)
|
|
|
|
NM_016373.4(WWOX):c.681C>T (p.Thr227=)
|
|
|
|
NM_016373.4(WWOX):c.684C>G (p.Thr228=)
|
|
|
|
NM_016373.4(WWOX):c.690A>G (p.Gln230=)
|
rs372408512
|
|
|
NM_016373.4(WWOX):c.717T>A (p.Leu239=)
|
|
|
|
NM_016373.4(WWOX):c.729C>G (p.Leu243=)
|
rs2083042980
|
|
|
NM_016373.4(WWOX):c.72G>A (p.Glu24=)
|
rs1255601873
|
|
|
NM_016373.4(WWOX):c.744C>T (p.Cys248=)
|
rs1597216164
|
|
|
NM_016373.4(WWOX):c.759C>A (p.Ala253=)
|
rs1363794629
|
|
|
NM_016373.4(WWOX):c.765C>A (p.Val255=)
|
rs1232507130
|
|
|
NM_016373.4(WWOX):c.765C>G (p.Val255=)
|
|
|
|
NM_016373.4(WWOX):c.774C>G (p.Val258=)
|
rs1597216285
|
|
|
NM_016373.4(WWOX):c.780A>G (p.Ser260=)
|
rs2083044569
|
|
|
NM_016373.4(WWOX):c.789T>C (p.His263=)
|
rs2083044812
|
|
|
NM_016373.4(WWOX):c.791+15C>A
|
|
|
|
NM_016373.4(WWOX):c.791+15C>T
|
|
|
|
NM_016373.4(WWOX):c.791+16A>G
|
rs2083045240
|
|
|
NM_016373.4(WWOX):c.791+20T>C
|
|
|
|
NM_016373.4(WWOX):c.792-15T>C
|
rs769065057
|
|
|
NM_016373.4(WWOX):c.792-16A>G
|
|
|
|
NM_016373.4(WWOX):c.792-20T>C
|
rs2151385825
|
|
|
NM_016373.4(WWOX):c.798A>G (p.Thr266=)
|
rs377727422
|
|
|
NM_016373.4(WWOX):c.813C>G (p.Ser271=)
|
|
|
|
NM_016373.4(WWOX):c.813C>T (p.Ser271=)
|
|
|
|
NM_016373.4(WWOX):c.81C>A (p.Thr27=)
|
|
|
|
NM_016373.4(WWOX):c.823C>T (p.Leu275=)
|
rs1272996029
|
|
|
NM_016373.4(WWOX):c.825G>T (p.Leu275=)
|
|
|
|
NM_016373.4(WWOX):c.840C>T (p.Leu280=)
|
|
|
|
NM_016373.4(WWOX):c.843_844delinsCG (p.Pro282Ala)
|
|
|
|
NM_016373.4(WWOX):c.867G>C (p.Ala289=)
|
rs755002954
|
|
|
NM_016373.4(WWOX):c.871C>T (p.Leu291=)
|
rs1230337512
|
|
|
NM_016373.4(WWOX):c.873G>A (p.Leu291=)
|
|
|
|
NM_016373.4(WWOX):c.891G>A (p.Lys297=)
|
|
|
|
NM_016373.4(WWOX):c.903C>T (p.Ile301=)
|
|
|
|
NM_016373.4(WWOX):c.909C>T (p.Phe303=)
|
|
|
|
NM_016373.4(WWOX):c.90C>T (p.Gly30=)
|
rs772839022
|
|
|
NM_016373.4(WWOX):c.912C>G (p.Ser304=)
|
|
|
|
NM_016373.4(WWOX):c.915C>T (p.Asn305=)
|
rs201818301
|
|
|
NM_016373.4(WWOX):c.918G>A (p.Glu306=)
|
rs2151386096
|
|
|
NM_016373.4(WWOX):c.919C>T (p.Leu307=)
|
rs200320711
|
|
|
NM_016373.4(WWOX):c.921G>T (p.Leu307=)
|
|
|
|
NM_016373.4(WWOX):c.924C>T (p.His308=)
|
|
|
|
NM_016373.4(WWOX):c.933C>A (p.Leu311=)
|
|
|
|
NM_016373.4(WWOX):c.936C>T (p.Ser312=)
|
rs2151386149
|
|
|
NM_016373.4(WWOX):c.942C>G (p.Arg314=)
|
|
|
|
NM_016373.4(WWOX):c.945G>T (p.Gly315=)
|
rs1232491002
|
|
|
NM_016373.4(WWOX):c.954G>C (p.Ser318=)
|
|
|
|
NM_016373.4(WWOX):c.963G>A (p.Val321=)
|
|
|
|
NM_016373.4(WWOX):c.969T>C (p.Pro323=)
|
|
|
|
NM_016373.4(WWOX):c.972A>C (p.Gly324=)
|
|
|
|
NM_016373.4(WWOX):c.990C>T (p.Asn330=)
|
rs117209694
|
|
|
NM_016373.4(WWOX):c.993T>A (p.Ile331=)
|
|
|
|
NM_016373.4(WWOX):c.9G>A (p.Ala3=)
|
|
|
|
NM_020708.5(SLC12A5):c.1011A>G (p.Arg337=)
|
|
|
|
NM_020708.5(SLC12A5):c.1020C>T (p.Val340=)
|
rs775553439
|
|
|
NM_020708.5(SLC12A5):c.1050C>A (p.Ala350=)
|
rs1568861790
|
|
|
NM_020708.5(SLC12A5):c.1056C>T (p.Gly352=)
|
rs768786111
|
|
|
NM_020708.5(SLC12A5):c.1066+14C>T
|
rs1324741256
|
|
|
NM_020708.5(SLC12A5):c.1066+7G>A
|
|
|
|
NM_020708.5(SLC12A5):c.1067-12G>A
|
|
|
|
NM_020708.5(SLC12A5):c.1067-12G>T
|
|
|
|
NM_020708.5(SLC12A5):c.1067-14_1067-13del
|
rs1191018482
|
|
|
NM_020708.5(SLC12A5):c.1067-18C>T
|
|
|
|
NM_020708.5(SLC12A5):c.1067-20A>C
|
rs2145491341
|
|
|
NM_020708.5(SLC12A5):c.1067-4A>G
|
|
|
|
NM_020708.5(SLC12A5):c.1074C>T (p.Leu358=)
|
|
|
|
NM_020708.5(SLC12A5):c.1089G>T (p.Leu363=)
|
|
|
|
NM_020708.5(SLC12A5):c.1098C>G (p.Gly366=)
|
rs770170831
|
|
|
NM_020708.5(SLC12A5):c.1119G>A (p.Gly373=)
|
rs986597650
|
|
|
NM_020708.5(SLC12A5):c.1164C>T (p.Asp388=)
|
|
|
|
NM_020708.5(SLC12A5):c.1194C>T (p.Ser398=)
|
|
|
|
NM_020708.5(SLC12A5):c.1237+11G>T
|
|
|
|
NM_020708.5(SLC12A5):c.1237+13_1237+20dup
|
|
|
|
NM_020708.5(SLC12A5):c.1238-10T>C
|
|
|
|
NM_020708.5(SLC12A5):c.1238-4G>A
|
|
|
|
NM_020708.5(SLC12A5):c.1238-9G>A
|
|
|
|
NM_020708.5(SLC12A5):c.1336+18G>A
|
|
|
|
NM_020708.5(SLC12A5):c.1337-9C>T
|
|
|
|
NM_020708.5(SLC12A5):c.1374G>A (p.Glu458=)
|
rs145624716
|
|
|
NM_020708.5(SLC12A5):c.1383C>A (p.Val461=)
|
|
|
|
NM_020708.5(SLC12A5):c.1386G>A (p.Leu462=)
|
|
|
|
NM_020708.5(SLC12A5):c.1394+12G>A
|
|
|
|
NM_020708.5(SLC12A5):c.1394+16T>G
|
|
|
|
NM_020708.5(SLC12A5):c.1395-12A>T
|
|
|
|
NM_020708.5(SLC12A5):c.1395-6T>C
|
|
|
|
NM_020708.5(SLC12A5):c.1435C>T (p.Leu479=)
|
|
|
|
NM_020708.5(SLC12A5):c.147+14G>A
|
|
|
|
NM_020708.5(SLC12A5):c.147+17G>A
|
|
|
|
NM_020708.5(SLC12A5):c.147+8G>T
|
|
|
|
NM_020708.5(SLC12A5):c.147+9C>T
|
rs2145481731
|
|
|
NM_020708.5(SLC12A5):c.148-10C>T
|
|
|
|
NM_020708.5(SLC12A5):c.148-13C>T
|
|
|
|
NM_020708.5(SLC12A5):c.148-4A>G
|
|
|
|
NM_020708.5(SLC12A5):c.148-8C>T
|
rs1413620669
|
|
|
NM_020708.5(SLC12A5):c.1500G>A (p.Leu500=)
|
rs2145493717
|
|
|
NM_020708.5(SLC12A5):c.1500G>T (p.Leu500=)
|
|
|
|
NM_020708.5(SLC12A5):c.1530G>C (p.Leu510=)
|
rs1600598728
|
|
|
NM_020708.5(SLC12A5):c.1536C>G (p.Ala512=)
|
rs2145493756
|
|
|
NM_020708.5(SLC12A5):c.1542G>A (p.Ser514=)
|
rs771067022
|
|
|
NM_020708.5(SLC12A5):c.1564C>T (p.Leu522=)
|
rs1600598775
|
|
|
NM_020708.5(SLC12A5):c.1566G>A (p.Leu522=)
|
rs759768562
|
|
|
NM_020708.5(SLC12A5):c.1569+15A>G
|
|
|
|
NM_020708.5(SLC12A5):c.1569+18A>G
|
|
|
|
NM_020708.5(SLC12A5):c.1569+19C>G
|
|
|
|
NM_020708.5(SLC12A5):c.1569+9G>A
|
rs1331325326
|
|
|
NM_020708.5(SLC12A5):c.1570-11T>C
|
rs1276719019
|
|
|
NM_020708.5(SLC12A5):c.1570-12C>A
|
|
|
|
NM_020708.5(SLC12A5):c.1570-6C>T
|
rs2084590595
|
|
|
NM_020708.5(SLC12A5):c.1581T>C (p.His527=)
|
rs923053406
|
|
|
NM_020708.5(SLC12A5):c.1593T>C (p.Asn531=)
|
|
|
|
NM_020708.5(SLC12A5):c.1596A>G (p.Gly532=)
|
rs2145494688
|
|
|
NM_020708.5(SLC12A5):c.1602G>A (p.Pro534=)
|
rs761507003
|
|
|
NM_020708.5(SLC12A5):c.1688+14T>C
|
|
|
|
NM_020708.5(SLC12A5):c.1689-16C>T
|
|
|
|
NM_020708.5(SLC12A5):c.1689-17G>A
|
rs750984148
|
|
|
NM_020708.5(SLC12A5):c.1689-7G>A
|
rs2084595386
|
|
|
NM_020708.5(SLC12A5):c.1689-9G>A
|
|
|
|
NM_020708.5(SLC12A5):c.1767A>G (p.Pro589=)
|
|
|
|
NM_020708.5(SLC12A5):c.1785C>T (p.His595=)
|
rs1364638744
|
|
|
NM_020708.5(SLC12A5):c.1787+16C>T
|
|
|
|
NM_020708.5(SLC12A5):c.1787+8C>T
|
rs775097455
|
|
|
NM_020708.5(SLC12A5):c.1788-12C>A
|
|
|
|
NM_020708.5(SLC12A5):c.1788-17C>A
|
|
|
|
NM_020708.5(SLC12A5):c.1788-9C>G
|
|
|
|
NM_020708.5(SLC12A5):c.1806C>A (p.Gly602=)
|
rs140595322
|
|
|
NM_020708.5(SLC12A5):c.1806C>T (p.Gly602=)
|
|
|
|
NM_020708.5(SLC12A5):c.1824C>T (p.Ala608=)
|
rs959050230
|
|
|
NM_020708.5(SLC12A5):c.1854A>G (p.Ala618=)
|
|
|
|
NM_020708.5(SLC12A5):c.1890G>A (p.Lys630=)
|
|
|
|
NM_020708.5(SLC12A5):c.1908-10C>T
|
|
|
|
NM_020708.5(SLC12A5):c.1908-11C>T
|
|
|
|
NM_020708.5(SLC12A5):c.1908-15C>T
|
|
|
|
NM_020708.5(SLC12A5):c.1908-9G>C
|
|
|
|
NM_020708.5(SLC12A5):c.192C>A (p.Gly64=)
|
rs771247445
|
|
|
NM_020708.5(SLC12A5):c.1989G>A (p.Gly663=)
|
rs373648545
|
|
|
NM_020708.5(SLC12A5):c.1998C>T (p.His666=)
|
|
|
|
NM_020708.5(SLC12A5):c.2012+18G>A
|
|
|
|
NM_020708.5(SLC12A5):c.2012+18G>T
|
|
|
|
NM_020708.5(SLC12A5):c.2013-15_2013-14del
|
|
|
|
NM_020708.5(SLC12A5):c.2020C>T (p.Leu674=)
|
rs1271881068
|
|
|
NM_020708.5(SLC12A5):c.2022G>T (p.Leu674=)
|
|
|
|
NM_020708.5(SLC12A5):c.2067C>T (p.Pro689=)
|
rs1383910539
|
|
|
NM_020708.5(SLC12A5):c.2073G>A (p.Leu691=)
|
rs778428073
|
|
|
NM_020708.5(SLC12A5):c.207C>T (p.Thr69=)
|
rs2145482217
|
|
|
NM_020708.5(SLC12A5):c.2082G>A (p.Leu694=)
|
rs2145499570
|
|
|
NM_020708.5(SLC12A5):c.2110C>T (p.Leu704=)
|
rs1600602344
|
|
|
NM_020708.5(SLC12A5):c.2130C>A (p.Val710=)
|
rs2145499678
|
|
|
NM_020708.5(SLC12A5):c.213G>T (p.Leu71=)
|
|
|
|
NM_020708.5(SLC12A5):c.2142C>A (p.Thr714=)
|
rs1026017018
|
|
|
NM_020708.5(SLC12A5):c.2142C>G (p.Thr714=)
|
|
|
|
NM_020708.5(SLC12A5):c.2170C>A (p.Arg724=)
|
rs532191036
|
|
|
NM_020708.5(SLC12A5):c.2181+9A>C
|
|
|
|
NM_020708.5(SLC12A5):c.2182-10C>G
|
|
|
|
NM_020708.5(SLC12A5):c.2182-11C>T
|
rs369990409
|
|
|
NM_020708.5(SLC12A5):c.2182-4C>T
|
|
|
|
NM_020708.5(SLC12A5):c.2182-5C>G
|
|
|
|
NM_020708.5(SLC12A5):c.219G>A (p.Gln73=)
|
|
|
|
NM_020708.5(SLC12A5):c.2202G>A (p.Glu734=)
|
rs2145501982
|
|
|
NM_020708.5(SLC12A5):c.2211G>A (p.Lys737=)
|
rs1181584422
|
|
|
NM_020708.5(SLC12A5):c.225T>C (p.Ser75=)
|
|
|
|
NM_020708.5(SLC12A5):c.2283G>A (p.Gly761=)
|
rs2084648859
|
|
|
NM_020708.5(SLC12A5):c.2286C>A (p.Gly762=)
|
|
|
|
NM_020708.5(SLC12A5):c.2286C>T (p.Gly762=)
|
rs766120516
|
|
|
NM_020708.5(SLC12A5):c.2292G>A (p.Gly764=)
|
rs79522550
|
|
|
NM_020708.5(SLC12A5):c.2301G>A (p.Gln767=)
|
|
|
|
NM_020708.5(SLC12A5):c.2313G>A (p.Val771=)
|
|
|
|
NM_020708.5(SLC12A5):c.231G>A (p.Glu77=)
|
|
|
|
NM_020708.5(SLC12A5):c.2331C>T (p.Arg777=)
|
|
|
|
NM_020708.5(SLC12A5):c.2377+11T>C
|
|
|
|
NM_020708.5(SLC12A5):c.2377+13G>A
|
|
|
|
NM_020708.5(SLC12A5):c.2377+15G>A
|
|
|
|
NM_020708.5(SLC12A5):c.2377+23_2377+45del
|
|
|
|
NM_020708.5(SLC12A5):c.2377+9_2377+11del
|
rs2145502204
|
|
|
NM_020708.5(SLC12A5):c.2378-13T>G
|
|
|
|
NM_020708.5(SLC12A5):c.2378-15C>T
|
|
|
|
NM_020708.5(SLC12A5):c.2385C>A (p.Val795=)
|
|
|
|
NM_020708.5(SLC12A5):c.2433T>C (p.Val811=)
|
|
|
|
NM_020708.5(SLC12A5):c.2452C>G (p.Pro818Ala)
|
rs201268862
|
|
|
NM_020708.5(SLC12A5):c.2478C>T (p.Ile826=)
|
|
|
|
NM_020708.5(SLC12A5):c.2493T>A (p.Ile831=)
|
rs2084660049
|
|
|
NM_020708.5(SLC12A5):c.2502T>C (p.Asp834=)
|
rs2145503678
|
|
|
NM_020708.5(SLC12A5):c.2514C>T (p.Leu838=)
|
rs768958786
|
|
|
NM_020708.5(SLC12A5):c.252T>C (p.Asn84=)
|
|
|
|
NM_020708.5(SLC12A5):c.2547+12G>A
|
rs1475116544
|
|
|
NM_020708.5(SLC12A5):c.2547+8G>T
|
rs1555867366
|
|
|
NM_020708.5(SLC12A5):c.2548-5_2548-4delinsCT
|
rs1600604943
|
|
|
NM_020708.5(SLC12A5):c.2548-8G>T
|
|
|
|
NM_020708.5(SLC12A5):c.2577C>T (p.Phe859=)
|
rs2145504264
|
|
|
NM_020708.5(SLC12A5):c.2628C>T (p.Thr876=)
|
|
|
|
NM_020708.5(SLC12A5):c.2655T>C (p.Thr885=)
|
|
|
|
NM_020708.5(SLC12A5):c.2664C>G (p.Val888=)
|
rs1053574223
|
|
|
NM_020708.5(SLC12A5):c.2664C>T (p.Val888=)
|
rs1053574223
|
|
|
NM_020708.5(SLC12A5):c.2679+13G>A
|
|
|
|
NM_020708.5(SLC12A5):c.2679+19C>A
|
|
|
|
NM_020708.5(SLC12A5):c.2679+8C>A
|
rs771536557
|
|
|
NM_020708.5(SLC12A5):c.2680-12G>C
|
|
|
|
NM_020708.5(SLC12A5):c.2680-20C>T
|
|
|
|
NM_020708.5(SLC12A5):c.2680-5C>T
|
|
|
|
NM_020708.5(SLC12A5):c.2706C>T (p.Thr902=)
|
|
|
|
NM_020708.5(SLC12A5):c.2719T>C (p.Leu907=)
|
|
|
|
NM_020708.5(SLC12A5):c.2721G>A (p.Leu907=)
|
|
|
|
NM_020708.5(SLC12A5):c.2760T>C (p.His920=)
|
rs1600605834
|
|
|
NM_020708.5(SLC12A5):c.276G>A (p.Val92=)
|
|
|
|
NM_020708.5(SLC12A5):c.2782C>A (p.Arg928=)
|
rs751455156
|
|
|
NM_020708.5(SLC12A5):c.2787+10C>T
|
|
|
|
NM_020708.5(SLC12A5):c.2787+11C>A
|
rs1483499586
|
|
|
NM_020708.5(SLC12A5):c.2787+12C>G
|
rs2084677788
|
|
|
NM_020708.5(SLC12A5):c.2787+17T>A
|
rs2145506047
|
|
|
NM_020708.5(SLC12A5):c.2788-14A>G
|
|
|
|
NM_020708.5(SLC12A5):c.2788-8C>T
|
rs2145507462
|
|
|
NM_020708.5(SLC12A5):c.279+8C>A
|
rs2145482332
|
|
|
NM_020708.5(SLC12A5):c.2799C>T (p.Ile933=)
|
rs2145507474
|
|
|
NM_020708.5(SLC12A5):c.280-16C>A
|
|
|
|
NM_020708.5(SLC12A5):c.280-18T>C
|
rs953607328
|
|
|
NM_020708.5(SLC12A5):c.280-19A>T
|
rs2145482712
|
|
|
NM_020708.5(SLC12A5):c.280-20G>C
|
rs2145482709
|
|
|
NM_020708.5(SLC12A5):c.280-8C>G
|
|
|
|
NM_020708.5(SLC12A5):c.2802A>C (p.Thr934=)
|
|
|
|
NM_020708.5(SLC12A5):c.2811A>T (p.Ser937=)
|
rs1296196636
|
|
|
NM_020708.5(SLC12A5):c.2812C>A (p.Arg938=)
|
|
|
|
NM_020708.5(SLC12A5):c.2847G>A (p.Thr949=)
|
|
|
|
NM_020708.5(SLC12A5):c.2856C>T (p.Arg952=)
|
rs2084690897
|
|
|
NM_020708.5(SLC12A5):c.2868A>G (p.Pro956=)
|
|
|
|
NM_020708.5(SLC12A5):c.288C>T (p.Arg96=)
|
|
|
|
NM_020708.5(SLC12A5):c.2907G>A (p.Glu969=)
|
|
|
|
NM_020708.5(SLC12A5):c.2910+16G>T
|
rs2145507733
|
|
|
NM_020708.5(SLC12A5):c.2910+19T>C
|
|
|
|
NM_020708.5(SLC12A5):c.2910+9C>T
|
|
|
|
NM_020708.5(SLC12A5):c.2910+9del
|
rs773293457
|
|
|
NM_020708.5(SLC12A5):c.2911-10C>T
|
|
|
|
NM_020708.5(SLC12A5):c.2911-5C>T
|
|
|
|
NM_020708.5(SLC12A5):c.2911-7C>A
|
|
|
|
NM_020708.5(SLC12A5):c.2925C>T (p.His975=)
|
rs778476586
|
|
|
NM_020708.5(SLC12A5):c.2958C>T (p.Ser986=)
|
|
|
|
NM_020708.5(SLC12A5):c.2960C>T (p.Pro987Leu)
|
|
|
|
NM_020708.5(SLC12A5):c.2985G>A (p.Gly995=)
|
rs2145508040
|
|
|
NM_020708.5(SLC12A5):c.2991G>A (p.Gly997=)
|
|
|
|
NM_020708.5(SLC12A5):c.3009G>A (p.Lys1003=)
|
|
|
|
NM_020708.5(SLC12A5):c.3015T>C (p.His1005=)
|
rs2145508104
|
|
|
NM_020708.5(SLC12A5):c.3027C>A (p.Thr1009=)
|
|
|
|
NM_020708.5(SLC12A5):c.3027C>G (p.Thr1009=)
|
rs201194560
|
|
|
NM_020708.5(SLC12A5):c.3051G>A (p.Lys1017=)
|
|
|
|
NM_020708.5(SLC12A5):c.3072C>G (p.Val1024=)
|
|
|
|
NM_020708.5(SLC12A5):c.309G>A (p.Val103=)
|
rs748333271
|
|
|
NM_020708.5(SLC12A5):c.3110+10T>C
|
rs2145508277
|
|
|
NM_020708.5(SLC12A5):c.3125+20T>C
|
|
|
|
NM_020708.5(SLC12A5):c.3125+7G>A
|
|
|
|
NM_020708.5(SLC12A5):c.3126-14_3126-12del
|
|
|
|
NM_020708.5(SLC12A5):c.3126-17C>T
|
|
|
|
NM_020708.5(SLC12A5):c.3126-19C>T
|
rs766692928
|
|
|
NM_020708.5(SLC12A5):c.3126-5del
|
|
|
|
NM_020708.5(SLC12A5):c.3156G>A (p.Thr1052=)
|
rs200558731
|
|
|
NM_020708.5(SLC12A5):c.3163C>A (p.Arg1055=)
|
rs2084704107
|
|
|
NM_020708.5(SLC12A5):c.3178A>G (p.Ile1060Val)
|
rs770196677
|
|
|
NM_020708.5(SLC12A5):c.3180C>T (p.Ile1060=)
|
|
|
|
NM_020708.5(SLC12A5):c.318G>T (p.Pro106=)
|
|
|
|
NM_020708.5(SLC12A5):c.3195G>C (p.Arg1065=)
|
rs2145509221
|
|
|
NM_020708.5(SLC12A5):c.3240C>T (p.Asn1080=)
|
rs912083023
|
|
|
NM_020708.5(SLC12A5):c.3243C>T (p.Arg1081=)
|
|
|
|
NM_020708.5(SLC12A5):c.3260-9G>C
|
rs371575101
|
|
|
NM_020708.5(SLC12A5):c.3285A>T (p.Thr1095=)
|
rs2145509644
|
|
|
NM_020708.5(SLC12A5):c.3288G>A (p.Glu1096=)
|
|
|
|
NM_020708.5(SLC12A5):c.3294G>A (p.Leu1098=)
|
|
|
|
NM_020708.5(SLC12A5):c.3300G>C (p.Arg1100=)
|
|
|
|
NM_020708.5(SLC12A5):c.3342C>T (p.Ile1114=)
|
rs2145509716
|
|
|
NM_020708.5(SLC12A5):c.3348C>A (p.Ser1116=)
|
|
|
|
NM_020708.5(SLC12A5):c.33C>A (p.Gly11=)
|
rs2145473814
|
|
|
NM_020708.5(SLC12A5):c.363C>G (p.Thr121=)
|
|
|
|
NM_020708.5(SLC12A5):c.369G>A (p.Val123=)
|
rs2084494146
|
|
|
NM_020708.5(SLC12A5):c.39G>C (p.Gly13=)
|
rs2145473827
|
|
|
NM_020708.5(SLC12A5):c.426+11C>A
|
|
|
|
NM_020708.5(SLC12A5):c.426+12C>A
|
|
|
|
NM_020708.5(SLC12A5):c.426+12C>G
|
|
|
|
NM_020708.5(SLC12A5):c.426+13C>G
|
|
|
|
NM_020708.5(SLC12A5):c.426+16C>A
|
|
|
|
NM_020708.5(SLC12A5):c.427-6T>C
|
|
|
|
NM_020708.5(SLC12A5):c.429G>A (p.Thr143=)
|
rs749462257
|
|
|
NM_020708.5(SLC12A5):c.435C>T (p.Leu145=)
|
rs1600591942
|
|
|
NM_020708.5(SLC12A5):c.447C>T (p.Ser149=)
|
|
|
|
NM_020708.5(SLC12A5):c.45C>T (p.Ala15=)
|
|
|
|
NM_020708.5(SLC12A5):c.477G>T (p.Val159=)
|
|
|
|
NM_020708.5(SLC12A5):c.482-6C>T
|
|
|
|
NM_020708.5(SLC12A5):c.482-8C>T
|
|
|
|
NM_020708.5(SLC12A5):c.48C>T (p.Asn16=)
|
|
|
|
NM_020708.5(SLC12A5):c.519C>A (p.Gly173=)
|
rs1274799788
|
|
|
NM_020708.5(SLC12A5):c.52+13C>G
|
|
|
|
NM_020708.5(SLC12A5):c.52+15G>A
|
|
|
|
NM_020708.5(SLC12A5):c.52+15G>C
|
|
|
|
NM_020708.5(SLC12A5):c.52+9T>C
|
|
|
|
NM_020708.5(SLC12A5):c.53-9C>A
|
rs2145481592
|
|
|
NM_020708.5(SLC12A5):c.612+13GAG[2]
|
rs777279837
|
|
|
NM_020708.5(SLC12A5):c.613-14C>T
|
|
|
|
NM_020708.5(SLC12A5):c.613-18C>T
|
rs965878928
|
|
|
NM_020708.5(SLC12A5):c.613-5C>T
|
|
|
|
NM_020708.5(SLC12A5):c.636C>T (p.Ala212=)
|
|
|
|
NM_020708.5(SLC12A5):c.645G>A (p.Lys215=)
|
|
|
|
NM_020708.5(SLC12A5):c.669A>G (p.Ala223=)
|
rs932821826
|
|
|
NM_020708.5(SLC12A5):c.675C>T (p.Ala225=)
|
|
|
|
NM_020708.5(SLC12A5):c.6A>G (p.Leu2=)
|
|
|
|
NM_020708.5(SLC12A5):c.714C>T (p.Leu238=)
|
|
|
|
NM_020708.5(SLC12A5):c.732G>T (p.Val244=)
|
rs2145487973
|
|
|
NM_020708.5(SLC12A5):c.756C>T (p.Val252=)
|
rs1206373570
|
|
|
NM_020708.5(SLC12A5):c.75C>T (p.Ser25=)
|
|
|
|
NM_020708.5(SLC12A5):c.802C>T (p.Leu268=)
|
|
|
|
NM_020708.5(SLC12A5):c.854+13G>T
|
|
|
|
NM_020708.5(SLC12A5):c.855-18C>T
|
|
|
|
NM_020708.5(SLC12A5):c.855-6C>T
|
rs774297761
|
|
|
NM_020708.5(SLC12A5):c.855-9T>A
|
rs2145488945
|
|
|
NM_020708.5(SLC12A5):c.865C>T (p.Leu289=)
|
rs2145488960
|
|
|
NM_020708.5(SLC12A5):c.879G>A (p.Thr293=)
|
rs138406290
|
|
|
NM_020708.5(SLC12A5):c.903C>T (p.Val301=)
|
rs2145489026
|
|
|
NM_020708.5(SLC12A5):c.909C>G (p.Ala303=)
|
|
|
|
NM_020708.5(SLC12A5):c.927A>G (p.Gly309=)
|
rs528584481
|
|
|
NM_020708.5(SLC12A5):c.939G>A (p.Val313=)
|
rs149300952
|
|
|
NM_020708.5(SLC12A5):c.946C>A (p.Arg316=)
|
rs373725781
|
|
|
NM_020708.5(SLC12A5):c.949C>T (p.Leu317=)
|
rs775678070
|
|
|
NM_020708.5(SLC12A5):c.951A>G (p.Leu317=)
|
|
|
|
NM_020708.5(SLC12A5):c.975C>T (p.Arg325=)
|
|
|
|
NM_020708.5(SLC12A5):c.978C>T (p.Phe326=)
|
|
|
|
NM_020708.5(SLC12A5):c.9C>T (p.Asn3=)
|
|
|
|
NM_020822.3(KCNT1):c.1017C>T (p.Leu339=)
|
|
|
|
NM_020822.3(KCNT1):c.1020G>A (p.Val340=)
|
rs749129414
|
|
|
NM_020822.3(KCNT1):c.1029A>G (p.Pro343=)
|
|
|
|
NM_020822.3(KCNT1):c.1035+12G>A
|
|
|
|
NM_020822.3(KCNT1):c.1035+20G>A
|
|
|
|
NM_020822.3(KCNT1):c.1035+22_1035+37dup
|
|
|
|
NM_020822.3(KCNT1):c.1036-8del
|
rs766451840
|
|
|
NM_020822.3(KCNT1):c.1036-9C>T
|
|
|
|
NM_020822.3(KCNT1):c.1083C>T (p.Gly361=)
|
|
|
|
NM_020822.3(KCNT1):c.1089C>T (p.Tyr363=)
|
rs1832164748
|
|
|
NM_020822.3(KCNT1):c.108C>T (p.Pro36=)
|
|
|
|
NM_020822.3(KCNT1):c.110+16C>A
|
|
|
|
NM_020822.3(KCNT1):c.110+7T>A
|
|
|
|
NM_020822.3(KCNT1):c.110+9T>G
|
|
|
|
NM_020822.3(KCNT1):c.111-11dup
|
|
|
|
NM_020822.3(KCNT1):c.111-12G>C
|
rs768967168
|
|
|
NM_020822.3(KCNT1):c.111-18G>C
|
|
|
|
NM_020822.3(KCNT1):c.111-4G>A
|
|
|
|
NM_020822.3(KCNT1):c.111-6C>T
|
|
|
|
NM_020822.3(KCNT1):c.111-8G>C
|
rs779128853
|
|
|
NM_020822.3(KCNT1):c.111-8G>T
|
rs779128853
|
|
|
NM_020822.3(KCNT1):c.1128G>A (p.Leu376=)
|
|
|
|
NM_020822.3(KCNT1):c.1155T>C (p.Leu385=)
|
rs756900818
|
|
|
NM_020822.3(KCNT1):c.1194G>A (p.Arg398=)
|
|
|
|
NM_020822.3(KCNT1):c.1194G>T (p.Arg398=)
|
rs781506115
|
|
|
NM_020822.3(KCNT1):c.11C>G (p.Pro4Arg)
|
rs747733979
|
|
|
NM_020822.3(KCNT1):c.1200+8C>G
|
|
|
|
NM_020822.3(KCNT1):c.1201-17C>G
|
|
|
|
NM_020822.3(KCNT1):c.1201-4G>A
|
rs2131477231
|
|
|
NM_020822.3(KCNT1):c.1215C>A (p.Val405=)
|
|
|
|
NM_020822.3(KCNT1):c.123G>A (p.Ala41=)
|
rs1352859989
|
|
|
NM_020822.3(KCNT1):c.1251C>G (p.Arg417=)
|
|
|
|
NM_020822.3(KCNT1):c.126G>A (p.Gly42=)
|
rs1278186698
|
|
|
NM_020822.3(KCNT1):c.126G>T (p.Gly42=)
|
rs1278186698
|
|
|
NM_020822.3(KCNT1):c.1284G>A (p.Arg428=)
|
rs943112493
|
|
|
NM_020822.3(KCNT1):c.1287C>A (p.Val429=)
|
|
|
|
NM_020822.3(KCNT1):c.129C>T (p.Asp43=)
|
|
|
|
NM_020822.3(KCNT1):c.1306G>A (p.Ala436Thr)
|
rs1832220041
|
|
|
NM_020822.3(KCNT1):c.1311C>G (p.Leu437=)
|
rs770741523
|
|
|
NM_020822.3(KCNT1):c.1317C>T (p.Asp439=)
|
rs2131477940
|
|
|
NM_020822.3(KCNT1):c.1326C>T (p.Leu442=)
|
rs200910140
|
|
|
NM_020822.3(KCNT1):c.1326_1327delinsAT (p.Met443Leu)
|
rs1554773537
|
|
|
NM_020822.3(KCNT1):c.1335C>T (p.Ala445=)
|
rs751944320
|
|
|
NM_020822.3(KCNT1):c.1337+12T>A
|
|
|
|
NM_020822.3(KCNT1):c.1338-11G>A
|
|
|
|
NM_020822.3(KCNT1):c.1338-12G>C
|
|
|
|
NM_020822.3(KCNT1):c.1338-12G>T
|
rs1015003209
|
|
|
NM_020822.3(KCNT1):c.1338-16C>A
|
|
|
|
NM_020822.3(KCNT1):c.1353G>A (p.Glu451=)
|
rs1832498978
|
|
|
NM_020822.3(KCNT1):c.135G>A (p.Ala45=)
|
rs769898346
|
|
|
NM_020822.3(KCNT1):c.135G>C (p.Ala45=)
|
rs769898346
|
|
|
NM_020822.3(KCNT1):c.135G>T (p.Ala45=)
|
|
|
|
NM_020822.3(KCNT1):c.1365C>A (p.Ile455=)
|
|
|
|
NM_020822.3(KCNT1):c.139C>T (p.Leu47=)
|
rs2131329270
|
|
|
NM_020822.3(KCNT1):c.1401+17C>T
|
|
|
|
NM_020822.3(KCNT1):c.1401+7G>A
|
rs2131496908
|
|
|
NM_020822.3(KCNT1):c.1402-13C>T
|
|
|
|
NM_020822.3(KCNT1):c.1407C>T (p.His469=)
|
rs537722828
|
|
|
NM_020822.3(KCNT1):c.1409A>G (p.Gln470Arg)
|
rs773888049
|
|
|
NM_020822.3(KCNT1):c.1416C>T (p.Ile472=)
|
|
|
|
NM_020822.3(KCNT1):c.1440C>T (p.Asp480=)
|
rs2131497788
|
|
|
NM_020822.3(KCNT1):c.1455C>T (p.Cys485=)
|
|
|
|
NM_020822.3(KCNT1):c.1458C>A (p.Pro486=)
|
|
|
|
NM_020822.3(KCNT1):c.1461C>T (p.Leu487=)
|
rs763089040
|
|
|
NM_020822.3(KCNT1):c.1473C>A (p.Ile491=)
|
|
|
|
NM_020822.3(KCNT1):c.1473C>T (p.Ile491=)
|
rs1832518596
|
|
|
NM_020822.3(KCNT1):c.147C>A (p.Thr49=)
|
rs751274694
|
|
|
NM_020822.3(KCNT1):c.1488C>T (p.Asn496=)
|
|
|
|
NM_020822.3(KCNT1):c.150C>A (p.Ala50=)
|
rs761304952
|
|
|
NM_020822.3(KCNT1):c.1510+10G>C
|
rs921050767
|
|
|
NM_020822.3(KCNT1):c.1510+14A>G
|
|
|
|
NM_020822.3(KCNT1):c.1510+15C>A
|
rs1416512239
|
|
|
NM_020822.3(KCNT1):c.1510+17C>T
|
|
|
|
NM_020822.3(KCNT1):c.1510+31_1510+70del
|
rs780670028
|
|
|
NM_020822.3(KCNT1):c.1510+8T>C
|
|
|
|
NM_020822.3(KCNT1):c.1511-10C>T
|
|
|
|
NM_020822.3(KCNT1):c.1511-11A>T
|
rs2131504578
|
|
|
NM_020822.3(KCNT1):c.1511-12C>A
|
rs549024643
|
|
|
NM_020822.3(KCNT1):c.1511-12C>T
|
|
|
|
NM_020822.3(KCNT1):c.1511-19C>T
|
rs2131504498
|
|
|
NM_020822.3(KCNT1):c.1512C>T (p.Asp504=)
|
|
|
|
NM_020822.3(KCNT1):c.1518G>A (p.Val506=)
|
|
|
|
NM_020822.3(KCNT1):c.152G>C (p.Gly51Ala)
|
rs1554763393
|
|
|
NM_020822.3(KCNT1):c.1596G>A (p.Leu532=)
|
|
|
|
NM_020822.3(KCNT1):c.1602G>A (p.Val534=)
|
rs2131505379
|
|
|
NM_020822.3(KCNT1):c.1611C>G (p.Ser537=)
|
rs2131505461
|
|
|
NM_020822.3(KCNT1):c.1619+13T>A
|
rs2131505684
|
|
|
NM_020822.3(KCNT1):c.1619+13_1619+19del
|
|
|
|
NM_020822.3(KCNT1):c.1619+16C>T
|
|
|
|
NM_020822.3(KCNT1):c.1619+17C>A
|
rs1384470539
|
|
|
NM_020822.3(KCNT1):c.1619+17C>T
|
|
|
|
NM_020822.3(KCNT1):c.1619+18C>G
|
|
|
|
NM_020822.3(KCNT1):c.1619+19G>A
|
rs374386910
|
|
|
NM_020822.3(KCNT1):c.1619+20_1619+27del
|
rs1064795535
|
|
|
NM_020822.3(KCNT1):c.1619+5GTGCCCC[3]
|
rs573524284
|
|
|
NM_020822.3(KCNT1):c.1620-12C>T
|
|
|
|
NM_020822.3(KCNT1):c.1620-15C>G
|
|
|
|
NM_020822.3(KCNT1):c.1620-15_1620-5del
|
rs761464076
|
|
|
NM_020822.3(KCNT1):c.1620-9G>C
|
|
|
|
NM_020822.3(KCNT1):c.1653C>T (p.Arg551=)
|
rs1832666302
|
|
|
NM_020822.3(KCNT1):c.165C>T (p.Ser55=)
|
|
|
|
NM_020822.3(KCNT1):c.1683G>A (p.Val561=)
|
rs1253303573
|
|
|
NM_020822.3(KCNT1):c.1686C>T (p.Tyr562=)
|
rs760141025
|
|
|
NM_020822.3(KCNT1):c.1687C>T (p.His563Tyr)
|
rs1190253737
|
|
|
NM_020822.3(KCNT1):c.1695C>A (p.Arg565=)
|
rs553208215
|
|
|
NM_020822.3(KCNT1):c.1695C>T (p.Arg565=)
|
|
|
|
NM_020822.3(KCNT1):c.1704C>T (p.Asp568=)
|
|
|
|
NM_020822.3(KCNT1):c.1713C>T (p.Phe571=)
|
|
|
|
NM_020822.3(KCNT1):c.1731C>A (p.Gly577=)
|
|
|
|
NM_020822.3(KCNT1):c.1737C>T (p.Ser579=)
|
rs775919081
|
|
|
NM_020822.3(KCNT1):c.173A>G (p.Asp58Gly)
|
rs1588255313
|
|
|
NM_020822.3(KCNT1):c.1749G>C (p.Ala583=)
|
rs17038714
|
|
|
NM_020822.3(KCNT1):c.174C>T (p.Asp58=)
|
rs2131329369
|
|
|
NM_020822.3(KCNT1):c.1752C>T (p.Ala584=)
|
|
|
|
NM_020822.3(KCNT1):c.1764C>T (p.His588=)
|
|
|
|
NM_020822.3(KCNT1):c.1769+11del
|
rs2131508480
|
|
|
NM_020822.3(KCNT1):c.1769+15_1769+16inv
|
|
|
|
NM_020822.3(KCNT1):c.1769+19C>T
|
|
|
|
NM_020822.3(KCNT1):c.1769+20A>G
|
rs1057524400
|
|
|
NM_020822.3(KCNT1):c.1769+8C>A
|
rs371287985
|
|
|
NM_020822.3(KCNT1):c.1770-10C>G
|
|
|
|
NM_020822.3(KCNT1):c.1770-20T>C
|
rs1239661382
|
|
|
NM_020822.3(KCNT1):c.1770-7T>C
|
|
|
|
NM_020822.3(KCNT1):c.1779G>A (p.Val593=)
|
rs748744989
|
|
|
NM_020822.3(KCNT1):c.1779G>T (p.Val593=)
|
rs748744989
|
|
|
NM_020822.3(KCNT1):c.1794G>C (p.Leu598=)
|
rs1588361953
|
|
|
NM_020822.3(KCNT1):c.1799G>A (p.Arg600Gln)
|
rs773621687
|
|
|
NM_020822.3(KCNT1):c.1815C>T (p.Ser605=)
|
rs113201678
|
|
|
NM_020822.3(KCNT1):c.1822C>T (p.Leu608=)
|
|
|
|
NM_020822.3(KCNT1):c.1824G>A (p.Leu608=)
|
rs764141661
|
|
|
NM_020822.3(KCNT1):c.1830G>C (p.Pro610=)
|
rs780892917
|
|
|
NM_020822.3(KCNT1):c.1839G>T (p.Arg613=)
|
|
|
|
NM_020822.3(KCNT1):c.183G>A (p.Val61=)
|
|
|
|
NM_020822.3(KCNT1):c.1860C>T (p.Asp620=)
|
|
|
|
NM_020822.3(KCNT1):c.1881C>T (p.Ile627=)
|
rs1554775088
|
|
|
NM_020822.3(KCNT1):c.1893G>A (p.Glu631=)
|
rs2131511290
|
|
|
NM_020822.3(KCNT1):c.1935G>A (p.Lys645=)
|
|
|
|
NM_020822.3(KCNT1):c.1950G>T (p.Gly650=)
|
|
|
|
NM_020822.3(KCNT1):c.1953G>A (p.Gln651=)
|
|
|
|
NM_020822.3(KCNT1):c.1956G>T (p.Gly652=)
|
|
|
|
NM_020822.3(KCNT1):c.1963G>C (p.Glu655Gln)
|
rs770039542
|
|
|
NM_020822.3(KCNT1):c.198G>A (p.Pro66=)
|
|
|
|
NM_020822.3(KCNT1):c.1998C>A (p.Ile666=)
|
rs368777569
|
|
|
NM_020822.3(KCNT1):c.2001C>T (p.Ala667=)
|
|
|
|
NM_020822.3(KCNT1):c.2008+17G>A
|
|
|
|
NM_020822.3(KCNT1):c.2009-12G>A
|
|
|
|
NM_020822.3(KCNT1):c.2009-13G>T
|
rs1391208726
|
|
|
NM_020822.3(KCNT1):c.2009-7C>T
|
rs935840917
|
|
|
NM_020822.3(KCNT1):c.2016G>C (p.Val672=)
|
|
|
|
NM_020822.3(KCNT1):c.2019C>T (p.Ala673=)
|
|
|
|
NM_020822.3(KCNT1):c.2025C>T (p.Asp675=)
|
|
|
|
NM_020822.3(KCNT1):c.2030A>G (p.Gln677Arg)
|
rs1060505000
|
|
|
NM_020822.3(KCNT1):c.2036C>T (p.Thr679Ile)
|
rs2131520253
|
|
|
NM_020822.3(KCNT1):c.2039A>G (p.Glu680Gly)
|
rs1207174167
|
|
|
NM_020822.3(KCNT1):c.204C>T (p.Tyr68=)
|
rs2131329436
|
|
|
NM_020822.3(KCNT1):c.2055G>A (p.Gln685=)
|
|
|
|
NM_020822.3(KCNT1):c.2061C>A (p.Gly687=)
|
rs748229745
|
|
|
NM_020822.3(KCNT1):c.2064T>C (p.Gly688=)
|
|
|
|
NM_020822.3(KCNT1):c.2087C>T (p.Ala696Val)
|
rs775382017
|
|
|
NM_020822.3(KCNT1):c.2089C>T (p.Leu697=)
|
rs1218571907
|
|
|
NM_020822.3(KCNT1):c.2091G>A (p.Leu697=)
|
|
|
|
NM_020822.3(KCNT1):c.2109G>A (p.Ser703=)
|
rs767200583
|
|
|
NM_020822.3(KCNT1):c.2121G>A (p.Arg707=)
|
rs2131521147
|
|
|
NM_020822.3(KCNT1):c.2130C>T (p.Ile710=)
|
rs1832851605
|
|
|
NM_020822.3(KCNT1):c.2146C>T (p.Leu716=)
|
rs752522838
|
|
|
NM_020822.3(KCNT1):c.2151C>A (p.Ala717=)
|
|
|
|
NM_020822.3(KCNT1):c.2151C>T (p.Ala717=)
|
rs758589013
|
|
|
NM_020822.3(KCNT1):c.2172C>G (p.Pro724=)
|
rs1354699667
|
|
|
NM_020822.3(KCNT1):c.2172C>T (p.Pro724=)
|
|
|
|
NM_020822.3(KCNT1):c.2175C>T (p.Cys725=)
|
rs368450848
|
|
|
NM_020822.3(KCNT1):c.2190C>T (p.Asp730=)
|
rs2131521695
|
|
|
NM_020822.3(KCNT1):c.220C>T (p.Leu74=)
|
rs943048769
|
|
|
NM_020822.3(KCNT1):c.2211G>T (p.Thr737=)
|
|
|
|
NM_020822.3(KCNT1):c.2214G>T (p.Pro738=)
|
|
|
|
NM_020822.3(KCNT1):c.2220C>T (p.Asp740=)
|
rs148162797
|
|
|
NM_020822.3(KCNT1):c.2222A>G (p.Asp741Gly)
|
rs756359375
|
|
|
NM_020822.3(KCNT1):c.2229G>A (p.Gly743=)
|
rs1289338720
|
|
|
NM_020822.3(KCNT1):c.2229G>T (p.Gly743=)
|
rs1289338720
|
|
|
NM_020822.3(KCNT1):c.2232C>G (p.Leu744=)
|
rs1281401990
|
|
|
NM_020822.3(KCNT1):c.2238G>A (p.Val746=)
|
|
|
|
NM_020822.3(KCNT1):c.2243+10G>A
|
|
|
|
NM_020822.3(KCNT1):c.2243+10G>T
|
|
|
|
NM_020822.3(KCNT1):c.2243+20C>T
|
rs989956820
|
|
|
NM_020822.3(KCNT1):c.2244-14G>A
|
|
|
|
NM_020822.3(KCNT1):c.2244-20G>A
|
|
|
|
NM_020822.3(KCNT1):c.2280C>T (p.Ile760=)
|
rs370521183
|
|
|
NM_020822.3(KCNT1):c.2296C>T (p.Leu766=)
|
rs2131535193
|
|
|
NM_020822.3(KCNT1):c.2328C>T (p.Phe776=)
|
rs1588376018
|
|
|
NM_020822.3(KCNT1):c.2337G>A (p.Leu779=)
|
rs544099606
|
|
|
NM_020822.3(KCNT1):c.2338C>A (p.Arg780=)
|
|
|
|
NM_020822.3(KCNT1):c.2349+19C>T
|
|
|
|
NM_020822.3(KCNT1):c.2349+6G>T
|
rs1418169170
|
|
|
NM_020822.3(KCNT1):c.2349+8del
|
rs748745850
|
|
|
NM_020822.3(KCNT1):c.2350-13_2350-12insCCTGACTCCAGT
|
|
|
|
NM_020822.3(KCNT1):c.2350-8G>T
|
|
|
|
NM_020822.3(KCNT1):c.2370T>C (p.Tyr790=)
|
rs1588380952
|
|
|
NM_020822.3(KCNT1):c.2391G>A (p.Gly797=)
|
rs2131543508
|
|
|
NM_020822.3(KCNT1):c.2397G>A (p.Lys799=)
|
|
|
|
NM_020822.3(KCNT1):c.240C>T (p.Phe80=)
|
rs1554763398
|
|
|
NM_020822.3(KCNT1):c.2418G>T (p.Ser806=)
|
rs142726010
|
|
|
NM_020822.3(KCNT1):c.2433C>T (p.Gly811=)
|
|
|
|
NM_020822.3(KCNT1):c.2436T>C (p.Asn812=)
|
|
|
|
NM_020822.3(KCNT1):c.2451C>T (p.Phe817=)
|
rs942926305
|
|
|
NM_020822.3(KCNT1):c.2457G>A (p.Val819=)
|
|
|
|
NM_020822.3(KCNT1):c.2464C>A (p.Arg822=)
|
|
|
|
NM_020822.3(KCNT1):c.2466G>A (p.Arg822=)
|
|
|
|
NM_020822.3(KCNT1):c.2469C>A (p.Ala823=)
|
|
|
|
NM_020822.3(KCNT1):c.2475C>T (p.Tyr825=)
|
rs2131543938
|
|
|
NM_020822.3(KCNT1):c.2493G>A (p.Leu831=)
|
|
|
|
NM_020822.3(KCNT1):c.2505G>A (p.Val835=)
|
|
|
|
NM_020822.3(KCNT1):c.2509C>T (p.Leu837=)
|
rs2131544108
|
|
|
NM_020822.3(KCNT1):c.2522+12G>A
|
|
|
|
NM_020822.3(KCNT1):c.2522+15G>A
|
rs1313134564
|
|
|
NM_020822.3(KCNT1):c.2522+28_2522+36del
|
rs759743096
|
|
|
NM_020822.3(KCNT1):c.2522+28_2522+36dup
|
rs759743096
|
|
|
NM_020822.3(KCNT1):c.2522+28_2522+82del
|
|
|
|
NM_020822.3(KCNT1):c.2523-12C>T
|
rs1007419018
|
|
|
NM_020822.3(KCNT1):c.2523-14C>T
|
|
|
|
NM_020822.3(KCNT1):c.254+10G>A
|
|
|
|
NM_020822.3(KCNT1):c.254+11_254+12insTAGGGACCGGGC
|
|
|
|
NM_020822.3(KCNT1):c.254+12_254+13insTG
|
rs1443453581
|
|
|
NM_020822.3(KCNT1):c.254+15C>T
|
|
|
|
NM_020822.3(KCNT1):c.254+17G>A
|
rs1425749928
|
|
|
NM_020822.3(KCNT1):c.254+18G>A
|
|
|
|
NM_020822.3(KCNT1):c.255-11T>C
|
|
|
|
NM_020822.3(KCNT1):c.255-14C>T
|
|
|
|
NM_020822.3(KCNT1):c.255-16CT[2]
|
rs760287830
|
|
|
NM_020822.3(KCNT1):c.2592C>T (p.Asp864=)
|
|
|
|
NM_020822.3(KCNT1):c.2594+10G>A
|
rs2131548582
|
|
|
NM_020822.3(KCNT1):c.2594+13C>T
|
|
|
|
NM_020822.3(KCNT1):c.2594+7C>A
|
rs545094921
|
|
|
NM_020822.3(KCNT1):c.2594+8G>A
|
|
|
|
NM_020822.3(KCNT1):c.2595-11C>T
|
|
|
|
NM_020822.3(KCNT1):c.2595-4C>T
|
|
|
|
NM_020822.3(KCNT1):c.2595-7C>T
|
|
|
|
NM_020822.3(KCNT1):c.2598G>A (p.Leu866=)
|
rs2131549376
|
|
|
NM_020822.3(KCNT1):c.2598G>T (p.Leu866=)
|
|
|
|
NM_020822.3(KCNT1):c.2601C>T (p.Asp867=)
|
rs1833360129
|
|
|
NM_020822.3(KCNT1):c.2610G>A (p.Leu870=)
|
|
|
|
NM_020822.3(KCNT1):c.2622C>T (p.Ile874=)
|
|
|
|
NM_020822.3(KCNT1):c.2628T>C (p.Tyr876=)
|
rs2131549484
|
|
|
NM_020822.3(KCNT1):c.2638C>T (p.Leu880=)
|
rs1588384964
|
|
|
NM_020822.3(KCNT1):c.2643G>C (p.Val881=)
|
|
|
|
NM_020822.3(KCNT1):c.2646G>A (p.Val882=)
|
|
|
|
NM_020822.3(KCNT1):c.267G>A (p.Glu89=)
|
rs917179079
|
|
|
NM_020822.3(KCNT1):c.2685C>T (p.Tyr895=)
|
|
|
|
NM_020822.3(KCNT1):c.2721C>T (p.Thr907=)
|
rs1588385244
|
|
|
NM_020822.3(KCNT1):c.2729+10G>A
|
|
|
|
NM_020822.3(KCNT1):c.2729+20C>T
|
|
|
|
NM_020822.3(KCNT1):c.2730-15_2730-9dup
|
|
|
|
NM_020822.3(KCNT1):c.2730-4C>G
|
|
|
|
NM_020822.3(KCNT1):c.2730-6C>T
|
rs1300286037
|
|
|
NM_020822.3(KCNT1):c.2733C>G (p.Leu911=)
|
|
|
|
NM_020822.3(KCNT1):c.2736C>T (p.Phe912=)
|
rs780650756
|
|
|
NM_020822.3(KCNT1):c.2739C>T (p.Pro913=)
|
rs140516977
|
|
|
NM_020822.3(KCNT1):c.2745C>T (p.Leu915=)
|
|
|
|
NM_020822.3(KCNT1):c.2751C>T (p.Ile917=)
|
|
|
|
NM_020822.3(KCNT1):c.2757G>C (p.Thr919=)
|
rs775752475
|
|
|
NM_020822.3(KCNT1):c.2766C>G (p.Thr922=)
|
|
|
|
NM_020822.3(KCNT1):c.2778C>T (p.Asn926=)
|
rs1833435836
|
|
|
NM_020822.3(KCNT1):c.2787C>T (p.Phe929=)
|
|
|
|
NM_020822.3(KCNT1):c.2809A>G (p.Ser937Gly)
|
rs1554778379
|
|
|
NM_020822.3(KCNT1):c.2833C>T (p.Leu945=)
|
rs759566793
|
|
|
NM_020822.3(KCNT1):c.2835A>T (p.Leu945=)
|
rs1401533323
|
|
|
NM_020822.3(KCNT1):c.2841+17C>T
|
|
|
|
NM_020822.3(KCNT1):c.2841+8G>A
|
rs1833445005
|
|
|
NM_020822.3(KCNT1):c.2842-11C>T
|
rs1051472581
|
|
|
NM_020822.3(KCNT1):c.2842-11_2842-9del
|
|
|
|
NM_020822.3(KCNT1):c.2842-16C>T
|
|
|
|
NM_020822.3(KCNT1):c.2842-18G>T
|
|
|
|
NM_020822.3(KCNT1):c.2842-25_2842-15del
|
rs2131570559
|
|
|
NM_020822.3(KCNT1):c.2842-36_2842-12del
|
|
|
|
NM_020822.3(KCNT1):c.2842-6C>T
|
rs2131570804
|
|
|
NM_020822.3(KCNT1):c.2847G>A (p.Glu949=)
|
rs779429071
|
|
|
NM_020822.3(KCNT1):c.2862C>T (p.Ser954=)
|
rs2131570981
|
|
|
NM_020822.3(KCNT1):c.2866C>T (p.Leu956=)
|
|
|
|
NM_020822.3(KCNT1):c.2889G>A (p.Pro963=)
|
rs376839128
|
|
|
NM_020822.3(KCNT1):c.288C>G (p.Thr96=)
|
|
|
|
NM_020822.3(KCNT1):c.288C>T (p.Thr96=)
|
rs764504563
|
|
|
NM_020822.3(KCNT1):c.2910C>T (p.Phe970=)
|
|
|
|
NM_020822.3(KCNT1):c.2916C>T (p.Ile972=)
|
rs878855056
|
|
|
NM_020822.3(KCNT1):c.2940C>T (p.Tyr980=)
|
rs1554779778
|
|
|
NM_020822.3(KCNT1):c.2943+10G>C
|
rs1165451009
|
|
|
NM_020822.3(KCNT1):c.2943+15G>A
|
rs369299178
|
|
|
NM_020822.3(KCNT1):c.2943+15G>C
|
|
|
|
NM_020822.3(KCNT1):c.2943+15G>T
|
|
|
|
NM_020822.3(KCNT1):c.2943+19G>A
|
|
|
|
NM_020822.3(KCNT1):c.2944-10_2944-9insTCTCCCTC
|
rs1833876769
|
|
|
NM_020822.3(KCNT1):c.2944-13_2944-6dup
|
|
|
|
NM_020822.3(KCNT1):c.2944-14_2944-13insTCTC
|
|
|
|
NM_020822.3(KCNT1):c.2944-15_2944-14insTCCT
|
|
|
|
NM_020822.3(KCNT1):c.2944-19_2944-13del
|
rs1487601601
|
|
|
NM_020822.3(KCNT1):c.2944-6G>C
|
rs1452612792
|
|
|
NM_020822.3(KCNT1):c.2944-8C>G
|
|
|
|
NM_020822.3(KCNT1):c.2946C>T (p.Ser982=)
|
rs2131574304
|
|
|
NM_020822.3(KCNT1):c.2958C>T (p.Asp986=)
|
|
|
|
NM_020822.3(KCNT1):c.2970C>T (p.Thr990=)
|
|
|
|
NM_020822.3(KCNT1):c.2973C>T (p.Ile991=)
|
rs781212036
|
|
|
NM_020822.3(KCNT1):c.2976C>T (p.Thr992=)
|
rs1331320043
|
|
|
NM_020822.3(KCNT1):c.298C>A (p.Arg100=)
|
|
|
|
NM_020822.3(KCNT1):c.2992C>T (p.Leu998=)
|
|
|
|
NM_020822.3(KCNT1):c.3003G>A (p.Thr1001=)
|
rs560435329
|
|
|
NM_020822.3(KCNT1):c.3027+10C>T
|
|
|
|
NM_020822.3(KCNT1):c.3027+10_3027+23del
|
|
|
|
NM_020822.3(KCNT1):c.3027+12_3027+13insC
|
|
|
|
NM_020822.3(KCNT1):c.3027+13G>C
|
|
|
|
NM_020822.3(KCNT1):c.3027+18_3027+22del
|
rs778352896
|
|
|
NM_020822.3(KCNT1):c.3027+8C>G
|
|
|
|
NM_020822.3(KCNT1):c.3028-10C>G
|
rs2131575320
|
|
|
NM_020822.3(KCNT1):c.3028-8C>T
|
rs2131575328
|
|
|
NM_020822.3(KCNT1):c.3060C>T (p.Arg1020=)
|
|
|
|
NM_020822.3(KCNT1):c.3072C>G (p.Arg1024=)
|
|
|
|
NM_020822.3(KCNT1):c.30G>C (p.Pro10=)
|
|
|
|
NM_020822.3(KCNT1):c.30G>T (p.Pro10=)
|
rs139034501
|
|
|
NM_020822.3(KCNT1):c.3102C>T (p.Ala1034=)
|
rs1176639976
|
|
|
NM_020822.3(KCNT1):c.3129A>G (p.Thr1043=)
|
|
|
|
NM_020822.3(KCNT1):c.3156+14C>A
|
|
|
|
NM_020822.3(KCNT1):c.3156+15_3156+37del
|
rs777726660
|
|
|
NM_020822.3(KCNT1):c.3156+15_3156+71del
|
rs1564391620
|
|
|
NM_020822.3(KCNT1):c.3156+19G>A
|
rs1364101045
|
|
|
NM_020822.3(KCNT1):c.3156+9G>A
|
|
|
|
NM_020822.3(KCNT1):c.3157-15C>G
|
|
|
|
NM_020822.3(KCNT1):c.3157-18C>A
|
rs367695978
|
|
|
NM_020822.3(KCNT1):c.3157-18C>T
|
|
|
|
NM_020822.3(KCNT1):c.3157-20T>C
|
rs774520067
|
|
|
NM_020822.3(KCNT1):c.3157-20T>G
|
|
|
|
NM_020822.3(KCNT1):c.3165C>T (p.Asp1055=)
|
|
|
|
NM_020822.3(KCNT1):c.3174C>T (p.Ala1058=)
|
rs2131577612
|
|
|
NM_020822.3(KCNT1):c.3177+15C>T
|
|
|
|
NM_020822.3(KCNT1):c.3177+16G>T
|
|
|
|
NM_020822.3(KCNT1):c.3177+9C>A
|
rs781750496
|
|
|
NM_020822.3(KCNT1):c.3178-14C>T
|
|
|
|
NM_020822.3(KCNT1):c.3178-19C>T
|
|
|
|
NM_020822.3(KCNT1):c.3178-6_3178-5insT
|
|
|
|
NM_020822.3(KCNT1):c.3183G>A (p.Gln1061=)
|
|
|
|
NM_020822.3(KCNT1):c.3189G>A (p.Ser1063=)
|
|
|
|
NM_020822.3(KCNT1):c.3189G>C (p.Ser1063=)
|
rs777914546
|
|
|
NM_020822.3(KCNT1):c.3189G>T (p.Ser1063=)
|
rs777914546
|
|
|
NM_020822.3(KCNT1):c.3198G>A (p.Val1066=)
|
|
|
|
NM_020822.3(KCNT1):c.3217C>T (p.Arg1073Trp)
|
rs768536067
|
|
|
NM_020822.3(KCNT1):c.3218G>A (p.Arg1073Gln)
|
|
|
|
NM_020822.3(KCNT1):c.3219G>A (p.Arg1073=)
|
|
|
|
NM_020822.3(KCNT1):c.3225G>A (p.Val1075=)
|
|
|
|
NM_020822.3(KCNT1):c.3254C>T (p.Thr1085Ile)
|
|
|
|
NM_020822.3(KCNT1):c.3260G>A (p.Gly1087Asp)
|
rs1834040486
|
|
|
NM_020822.3(KCNT1):c.3294C>T (p.Asp1098=)
|
|
|
|
NM_020822.3(KCNT1):c.3297C>G (p.Pro1099=)
|
rs759060691
|
|
|
NM_020822.3(KCNT1):c.3316C>A (p.Arg1106=)
|
rs542409033
|
|
|
NM_020822.3(KCNT1):c.3318G>A (p.Arg1106=)
|
rs2131582189
|
|
|
NM_020822.3(KCNT1):c.3326G>A (p.Ser1109Asn)
|
rs1588407944
|
|
|
NM_020822.3(KCNT1):c.3327C>T (p.Ser1109=)
|
|
|
|
NM_020822.3(KCNT1):c.3328C>T (p.Leu1110=)
|
|
|
|
NM_020822.3(KCNT1):c.3333G>A (p.Gln1111=)
|
rs960008558
|
|
|
NM_020822.3(KCNT1):c.3339C>A (p.Ala1113=)
|
|
|
|
NM_020822.3(KCNT1):c.334+10G>C
|
|
|
|
NM_020822.3(KCNT1):c.334+12G>A
|
|
|
|
NM_020822.3(KCNT1):c.334+13C>G
|
|
|
|
NM_020822.3(KCNT1):c.334+14C>G
|
rs2131408140
|
|
|
NM_020822.3(KCNT1):c.334+16G>A
|
|
|
|
NM_020822.3(KCNT1):c.334+7G>A
|
rs1057522631
|
|
|
NM_020822.3(KCNT1):c.334+8_334+12del
|
|
|
|
NM_020822.3(KCNT1):c.335-14T>C
|
|
|
|
NM_020822.3(KCNT1):c.335-14T>G
|
|
|
|
NM_020822.3(KCNT1):c.335-17C>A
|
rs764048972
|
|
|
NM_020822.3(KCNT1):c.335-17C>T
|
|
|
|
NM_020822.3(KCNT1):c.3354C>T (p.Arg1118=)
|
|
|
|
NM_020822.3(KCNT1):c.3369G>A (p.Gln1123=)
|
rs2131582485
|
|
|
NM_020822.3(KCNT1):c.3387C>G (p.Ala1129=)
|
rs372410150
|
|
|
NM_020822.3(KCNT1):c.3389C>T (p.Ala1130Val)
|
|
|
|
NM_020822.3(KCNT1):c.3417C>T (p.Ser1139=)
|
|
|
|
NM_020822.3(KCNT1):c.3418C>T (p.Leu1140=)
|
|
|
|
NM_020822.3(KCNT1):c.3426G>A (p.Arg1142=)
|
|
|
|
NM_020822.3(KCNT1):c.3428G>A (p.Arg1143His)
|
rs1182743416
|
|
|
NM_020822.3(KCNT1):c.3461A>G (p.Lys1154Arg)
|
rs779810960
|
|
|
NM_020822.3(KCNT1):c.3464A>C (p.Asn1155Thr)
|
rs1283268556
|
|
|
NM_020822.3(KCNT1):c.3478C>T (p.Leu1160=)
|
|
|
|
NM_020822.3(KCNT1):c.3502+12C>G
|
rs367727105
|
|
|
NM_020822.3(KCNT1):c.3502+14G>A
|
|
|
|
NM_020822.3(KCNT1):c.3502+15C>T
|
|
|
|
NM_020822.3(KCNT1):c.3502+9A>G
|
rs2131583276
|
|
|
NM_020822.3(KCNT1):c.3503-10T>C
|
|
|
|
NM_020822.3(KCNT1):c.3503-19C>T
|
|
|
|
NM_020822.3(KCNT1):c.3503-7T>A
|
rs559088025
|
|
|
NM_020822.3(KCNT1):c.3513C>T (p.Asn1171=)
|
rs1206106180
|
|
|
NM_020822.3(KCNT1):c.3534C>A (p.Ser1178=)
|
rs1588422518
|
|
|
NM_020822.3(KCNT1):c.3540C>T (p.Val1180=)
|
rs185469582
|
|
|
NM_020822.3(KCNT1):c.3544A>C (p.Ile1182Leu)
|
rs1161862851
|
|
|
NM_020822.3(KCNT1):c.3555G>A (p.Pro1185=)
|
rs144068763
|
|
|
NM_020822.3(KCNT1):c.3558C>A (p.Pro1186=)
|
rs148525032
|
|
|
NM_020822.3(KCNT1):c.3558C>T (p.Pro1186=)
|
rs148525032
|
|
|
NM_020822.3(KCNT1):c.3564G>C (p.Thr1188=)
|
rs530040739
|
|
|
NM_020822.3(KCNT1):c.3564G>T (p.Thr1188=)
|
|
|
|
NM_020822.3(KCNT1):c.3567G>A (p.Arg1189=)
|
rs2131604834
|
|
|
NM_020822.3(KCNT1):c.3570G>A (p.Leu1190=)
|
rs1247173859
|
|
|
NM_020822.3(KCNT1):c.3587+12C>T
|
|
|
|
NM_020822.3(KCNT1):c.3587+13_3587+44del
|
rs1426064441
|
|
|
NM_020822.3(KCNT1):c.3588-10C>T
|
|
|
|
NM_020822.3(KCNT1):c.3588-13_3588-12del
|
rs2131605777
|
|
|
NM_020822.3(KCNT1):c.3588-14G>A
|
|
|
|
NM_020822.3(KCNT1):c.3588-9C>T
|
rs2131605802
|
|
|
NM_020822.3(KCNT1):c.3600C>G (p.Arg1200=)
|
|
|
|
NM_020822.3(KCNT1):c.3600C>T (p.Arg1200=)
|
rs144658404
|
|
|
NM_020822.3(KCNT1):c.3603C>T (p.Ser1201=)
|
rs769180686
|
|
|
NM_020822.3(KCNT1):c.3622G>A (p.Ala1208Thr)
|
rs1564402008
|
|
|
NM_020822.3(KCNT1):c.3624C>T (p.Ala1208=)
|
rs1372740051
|
|
|
NM_020822.3(KCNT1):c.3648C>T (p.Ser1216=)
|
rs1834583279
|
|
|
NM_020822.3(KCNT1):c.364C>T (p.Leu122=)
|
rs2131411142
|
|
|
NM_020822.3(KCNT1):c.3653G>A (p.Cys1218Tyr)
|
rs758465935
|
|
|
NM_020822.3(KCNT1):c.3669G>A (p.Ser1223=)
|
rs556454353
|
|
|
NM_020822.3(KCNT1):c.3699A>C (p.Thr1233=)
|
rs750109650
|
|
|
NM_020822.3(KCNT1):c.3699A>G (p.Thr1233=)
|
|
|
|
NM_020822.3(KCNT1):c.36C>G (p.Gly12=)
|
rs1442852201
|
|
|
NM_020822.3(KCNT1):c.372G>A (p.Leu124=)
|
rs1398608504
|
|
|
NM_020822.3(KCNT1):c.399C>A (p.Arg133=)
|
rs377259793
|
|
|
NM_020822.3(KCNT1):c.399C>T (p.Arg133=)
|
rs377259793
|
|
|
NM_020822.3(KCNT1):c.402C>G (p.Val134=)
|
|
|
|
NM_020822.3(KCNT1):c.417G>A (p.Pro139=)
|
rs542441332
|
|
|
NM_020822.3(KCNT1):c.417G>C (p.Pro139=)
|
|
|
|
NM_020822.3(KCNT1):c.434+10G>C
|
rs187872786
|
|
|
NM_020822.3(KCNT1):c.434+14G>A
|
|
|
|
NM_020822.3(KCNT1):c.434+16G>A
|
rs560535799
|
|
|
NM_020822.3(KCNT1):c.435-10C>T
|
rs2131422803
|
|
|
NM_020822.3(KCNT1):c.435-17G>C
|
|
|
|
NM_020822.3(KCNT1):c.435-18C>T
|
rs1057523539
|
|
|
NM_020822.3(KCNT1):c.491+18C>G
|
rs748233532
|
|
|
NM_020822.3(KCNT1):c.491+18C>T
|
|
|
|
NM_020822.3(KCNT1):c.491+7C>T
|
rs538968704
|
|
|
NM_020822.3(KCNT1):c.492-10C>G
|
|
|
|
NM_020822.3(KCNT1):c.492-14C>G
|
|
|
|
NM_020822.3(KCNT1):c.492-15C>T
|
|
|
|
NM_020822.3(KCNT1):c.492-19G>A
|
|
|
|
NM_020822.3(KCNT1):c.497C>T (p.Pro166Leu)
|
|
|
|
NM_020822.3(KCNT1):c.498T>C (p.Pro166=)
|
rs1402179280
|
|
|
NM_020822.3(KCNT1):c.504G>A (p.Leu168=)
|
rs1588317741
|
|
|
NM_020822.3(KCNT1):c.504G>C (p.Leu168=)
|
|
|
|
NM_020822.3(KCNT1):c.513G>A (p.Glu171=)
|
|
|
|
NM_020822.3(KCNT1):c.51G>A (p.Ala17=)
|
|
|
|
NM_020822.3(KCNT1):c.526C>T (p.Leu176=)
|
rs1395075330
|
|
|
NM_020822.3(KCNT1):c.528G>A (p.Leu176=)
|
rs2131427169
|
|
|
NM_020822.3(KCNT1):c.534G>A (p.Ala178=)
|
rs144250793
|
|
|
NM_020822.3(KCNT1):c.53G>A (p.Arg18His)
|
rs753714293
|
|
|
NM_020822.3(KCNT1):c.540+14C>T
|
|
|
|
NM_020822.3(KCNT1):c.541-14T>C
|
|
|
|
NM_020822.3(KCNT1):c.541-16C>A
|
|
|
|
NM_020822.3(KCNT1):c.541-16C>T
|
|
|
|
NM_020822.3(KCNT1):c.541-17C>T
|
|
|
|
NM_020822.3(KCNT1):c.541-7C>A
|
rs1489319809
|
|
|
NM_020822.3(KCNT1):c.54C>A (p.Arg18=)
|
|
|
|
NM_020822.3(KCNT1):c.54C>G (p.Arg18=)
|
rs754697766
|
|
|
NM_020822.3(KCNT1):c.54C>T (p.Arg18=)
|
rs754697766
|
|
|
NM_020822.3(KCNT1):c.573G>A (p.Thr191=)
|
rs375310989
|
|
|
NM_020822.3(KCNT1):c.573G>C (p.Thr191=)
|
rs375310989
|
|
|
NM_020822.3(KCNT1):c.57C>G (p.Gly19=)
|
|
|
|
NM_020822.3(KCNT1):c.57C>T (p.Gly19=)
|
rs1245480933
|
|
|
NM_020822.3(KCNT1):c.582C>T (p.Leu194=)
|
|
|
|
NM_020822.3(KCNT1):c.588C>T (p.Tyr196=)
|
rs2131434951
|
|
|
NM_020822.3(KCNT1):c.600+11G>T
|
|
|
|
NM_020822.3(KCNT1):c.600+12C>T
|
|
|
|
NM_020822.3(KCNT1):c.600+14C>T
|
|
|
|
NM_020822.3(KCNT1):c.600+15G>A
|
|
|
|
NM_020822.3(KCNT1):c.600+16G>A
|
rs764442404
|
|
|
NM_020822.3(KCNT1):c.600+17G>A
|
rs1182136206
|
|
|
NM_020822.3(KCNT1):c.600+8C>T
|
rs1588321982
|
|
|
NM_020822.3(KCNT1):c.601-13C>T
|
rs202113794
|
|
|
NM_020822.3(KCNT1):c.601-14C>T
|
|
|
|
NM_020822.3(KCNT1):c.601-17C>T
|
|
|
|
NM_020822.3(KCNT1):c.601-18C>A
|
|
|
|
NM_020822.3(KCNT1):c.601-18C>T
|
rs762196150
|
|
|
NM_020822.3(KCNT1):c.615G>A (p.Glu205=)
|
|
|
|
NM_020822.3(KCNT1):c.621C>A (p.Ile207=)
|
rs1185207674
|
|
|
NM_020822.3(KCNT1):c.627C>T (p.Arg209=)
|
rs1417508265
|
|
|
NM_020822.3(KCNT1):c.654C>T (p.Asn218=)
|
|
|
|
NM_020822.3(KCNT1):c.672C>T (p.Ile224=)
|
|
|
|
NM_020822.3(KCNT1):c.675+11C>A
|
|
|
|
NM_020822.3(KCNT1):c.675+12C>G
|
rs1322006932
|
|
|
NM_020822.3(KCNT1):c.675+15G>T
|
rs1171483239
|
|
|
NM_020822.3(KCNT1):c.676-11C>A
|
|
|
|
NM_020822.3(KCNT1):c.676-14T>C
|
|
|
|
NM_020822.3(KCNT1):c.676-18G>A
|
|
|
|
NM_020822.3(KCNT1):c.700C>T (p.Leu234=)
|
rs1831563332
|
|
|
NM_020822.3(KCNT1):c.702G>A (p.Leu234=)
|
rs2131438438
|
|
|
NM_020822.3(KCNT1):c.711C>T (p.Pro237=)
|
rs117286274
|
|
|
NM_020822.3(KCNT1):c.720G>C (p.Leu240=)
|
rs2131438525
|
|
|
NM_020822.3(KCNT1):c.73C>A (p.Arg25=)
|
|
|
|
NM_020822.3(KCNT1):c.744G>T (p.Ala248=)
|
|
|
|
NM_020822.3(KCNT1):c.747G>A (p.Leu249=)
|
|
|
|
NM_020822.3(KCNT1):c.759+10G>A
|
rs1378294661
|
|
|
NM_020822.3(KCNT1):c.759+11G>T
|
|
|
|
NM_020822.3(KCNT1):c.759+12C>T
|
|
|
|
NM_020822.3(KCNT1):c.759+13G>C
|
rs375237065
|
|
|
NM_020822.3(KCNT1):c.759+13G>T
|
|
|
|
NM_020822.3(KCNT1):c.759+14G>C
|
rs2131438888
|
|
|
NM_020822.3(KCNT1):c.759+16G>A
|
rs1362410976
|
|
|
NM_020822.3(KCNT1):c.759+18G>A
|
rs748532863
|
|
|
NM_020822.3(KCNT1):c.759+18G>T
|
|
|
|
NM_020822.3(KCNT1):c.760-13A>T
|
|
|
|
NM_020822.3(KCNT1):c.760-18C>T
|
|
|
|
NM_020822.3(KCNT1):c.760-20A>T
|
|
|
|
NM_020822.3(KCNT1):c.760-4A>C
|
rs2131444316
|
|
|
NM_020822.3(KCNT1):c.760-4A>G
|
rs2131444316
|
|
|
NM_020822.3(KCNT1):c.760-9C>T
|
rs1554771446
|
|
|
NM_020822.3(KCNT1):c.768C>T (p.Phe256=)
|
rs1422265516
|
|
|
NM_020822.3(KCNT1):c.781C>T (p.Leu261=)
|
rs1588327182
|
|
|
NM_020822.3(KCNT1):c.784C>A (p.Arg262=)
|
|
|
|
NM_020822.3(KCNT1):c.816C>T (p.Leu272=)
|
rs764531029
|
|
|
NM_020822.3(KCNT1):c.825C>T (p.Phe275=)
|
|
|
|
NM_020822.3(KCNT1):c.852G>T (p.Thr284=)
|
|
|
|
NM_020822.3(KCNT1):c.854+13C>T
|
|
|
|
NM_020822.3(KCNT1):c.855-4G>T
|
|
|
|
NM_020822.3(KCNT1):c.855-7G>A
|
rs768046676
|
|
|
NM_020822.3(KCNT1):c.864C>T (p.Gly288=)
|
|
|
|
NM_020822.3(KCNT1):c.880C>A (p.Arg294=)
|
|
|
|
NM_020822.3(KCNT1):c.895C>T (p.Leu299=)
|
rs2131450994
|
|
|
NM_020822.3(KCNT1):c.897G>A (p.Leu299=)
|
rs1197592007
|
|
|
NM_020822.3(KCNT1):c.91G>T (p.Asp31Tyr)
|
rs766377529
|
|
|
NM_020822.3(KCNT1):c.921C>T (p.Phe307=)
|
rs878855057
|
|
|
NM_020822.3(KCNT1):c.927C>T (p.Ile309=)
|
|
|
|
NM_020822.3(KCNT1):c.94G>T (p.Gly32Cys)
|
rs754823810
|
|
|
NM_020822.3(KCNT1):c.963G>C (p.Thr321=)
|
rs760300415
|
|
|
NM_020822.3(KCNT1):c.9C>T (p.Leu3=)
|
rs768423949
|
|
|
NM_020988.3(GNAO1):c.102G>T (p.Val34=)
|
|
|
|
NM_020988.3(GNAO1):c.1044C>G (p.Leu348=)
|
|
|
|
NM_020988.3(GNAO1):c.1053C>T (p.Cys351=)
|
|
|
|
NM_020988.3(GNAO1):c.111C>T (p.Leu37=)
|
|
|
|
NM_020988.3(GNAO1):c.118+20C>A
|
|
|
|
NM_020988.3(GNAO1):c.118+20C>T
|
|
|
|
NM_020988.3(GNAO1):c.118+3A>G
|
|
|
|
NM_020988.3(GNAO1):c.118+9C>T
|
|
|
|
NM_020988.3(GNAO1):c.119-12G>A
|
rs2143271938
|
|
|
NM_020988.3(GNAO1):c.119-14C>G
|
rs769634112
|
|
|
NM_020988.3(GNAO1):c.119-18C>T
|
|
|
|
NM_020988.3(GNAO1):c.129A>G (p.Glu43=)
|
rs2036187726
|
|
|
NM_020988.3(GNAO1):c.135A>G (p.Gly45=)
|
|
|
|
NM_020988.3(GNAO1):c.153G>A (p.Lys51=)
|
rs1555499801
|
|
|
NM_020988.3(GNAO1):c.161+14G>T
|
|
|
|
NM_020988.3(GNAO1):c.161+16A>G
|
|
|
|
NM_020988.3(GNAO1):c.161+8C>G
|
rs145872570
|
|
|
NM_020988.3(GNAO1):c.168C>T (p.Ile56=)
|
|
|
|
NM_020988.3(GNAO1):c.174A>G (p.Glu58=)
|
rs1165660073
|
|
|
NM_020988.3(GNAO1):c.201A>G (p.Lys67=)
|
rs2143520908
|
|
|
NM_020988.3(GNAO1):c.204G>A (p.Gln68=)
|
rs1452910276
|
|
|
NM_020988.3(GNAO1):c.24G>A (p.Glu8=)
|
rs2143270247
|
|
|
NM_020988.3(GNAO1):c.261C>T (p.Ala87=)
|
rs2143521053
|
|
|
NM_020988.3(GNAO1):c.282A>G (p.Glu94=)
|
rs2037058709
|
|
|
NM_020988.3(GNAO1):c.303+13G>A
|
|
|
|
NM_020988.3(GNAO1):c.303+7C>A
|
|
|
|
NM_020988.3(GNAO1):c.303+9C>T
|
|
|
|
NM_020988.3(GNAO1):c.304-7C>T
|
rs778867051
|
|
|
NM_020988.3(GNAO1):c.319G>C (p.Val107Leu)
|
|
|
|
NM_020988.3(GNAO1):c.321G>T (p.Val107=)
|
|
|
|
NM_020988.3(GNAO1):c.330G>C (p.Val110=)
|
rs1596867599
|
|
|
NM_020988.3(GNAO1):c.33C>T (p.Ala11=)
|
rs1243993397
|
|
|
NM_020988.3(GNAO1):c.351C>G (p.Thr117=)
|
rs770385484
|
|
|
NM_020988.3(GNAO1):c.357C>A (p.Pro119=)
|
|
|
|
NM_020988.3(GNAO1):c.36C>T (p.Ala12=)
|
rs1596787365
|
|
|
NM_020988.3(GNAO1):c.372G>C (p.Leu124=)
|
|
|
|
NM_020988.3(GNAO1):c.387G>A (p.Met129Ile)
|
|
|
|
NM_020988.3(GNAO1):c.390G>A (p.Arg130=)
|
|
|
|
NM_020988.3(GNAO1):c.427C>T (p.Arg143Trp)
|
rs2143647269
|
|
|
NM_020988.3(GNAO1):c.464+12A>G
|
|
|
|
NM_020988.3(GNAO1):c.464+14C>T
|
rs745893559
|
|
|
NM_020988.3(GNAO1):c.464+14dup
|
|
|
|
NM_020988.3(GNAO1):c.464+15G>A
|
rs770008390
|
|
|
NM_020988.3(GNAO1):c.464+7G>A
|
rs2037660949
|
|
|
NM_020988.3(GNAO1):c.465-4T>C
|
rs755412219
|
|
|
NM_020988.3(GNAO1):c.469C>T (p.Leu157=)
|
|
|
|
NM_020988.3(GNAO1):c.480G>A (p.Leu160=)
|
|
|
|
NM_020988.3(GNAO1):c.492G>C (p.Gly164=)
|
|
|
|
NM_020988.3(GNAO1):c.498C>G (p.Ala166=)
|
|
|
|
NM_020988.3(GNAO1):c.525C>T (p.Ile175=)
|
|
|
|
NM_020988.3(GNAO1):c.534C>T (p.Thr178=)
|
|
|
|
NM_020988.3(GNAO1):c.537G>A (p.Arg179=)
|
|
|
|
NM_020988.3(GNAO1):c.540C>A (p.Val180=)
|
rs2143660697
|
|
|
NM_020988.3(GNAO1):c.555C>A (p.Ile185=)
|
|
|
|
NM_020988.3(GNAO1):c.570C>T (p.Phe190=)
|
|
|
|
NM_020988.3(GNAO1):c.585C>T (p.Leu195=)
|
rs1289428537
|
|
|
NM_020988.3(GNAO1):c.593+10A>G
|
rs1596871500
|
|
|
NM_020988.3(GNAO1):c.593+14A>G
|
rs2143660872
|
|
|
NM_020988.3(GNAO1):c.593+16G>A
|
|
|
|
NM_020988.3(GNAO1):c.593+19C>A
|
|
|
|
NM_020988.3(GNAO1):c.593+9C>T
|
|
|
|
NM_020988.3(GNAO1):c.594-10C>T
|
|
|
|
NM_020988.3(GNAO1):c.594-15C>A
|
rs747946596
|
|
|
NM_020988.3(GNAO1):c.594-20C>T
|
|
|
|
NM_020988.3(GNAO1):c.594-6C>T
|
|
|
|
NM_020988.3(GNAO1):c.603C>T (p.Asp201=)
|
rs1385035890
|
|
|
NM_020988.3(GNAO1):c.612C>G (p.Gly204=)
|
rs768258979
|
|
|
NM_020988.3(GNAO1):c.621T>G (p.Ser207=)
|
rs2143664918
|
|
|
NM_020988.3(GNAO1):c.639C>A (p.Ile213=)
|
|
|
|
NM_020988.3(GNAO1):c.648C>T (p.Phe216=)
|
|
|
|
NM_020988.3(GNAO1):c.681G>T (p.Ala227=)
|
|
|
|
NM_020988.3(GNAO1):c.720C>T (p.Thr240=)
|
|
|
|
NM_020988.3(GNAO1):c.723+10C>T
|
|
|
|
NM_020988.3(GNAO1):c.723+14G>C
|
|
|
|
NM_020988.3(GNAO1):c.723+14del
|
|
|
|
NM_020988.3(GNAO1):c.723+15C>T
|
|
|
|
NM_020988.3(GNAO1):c.723+20C>T
|
|
|
|
NM_020988.3(GNAO1):c.723+9C>T
|
|
|
|
NM_020988.3(GNAO1):c.724-10G>A
|
|
|
|
NM_020988.3(GNAO1):c.724-16C>T
|
|
|
|
NM_020988.3(GNAO1):c.754G>A (p.Asp252Asn)
|
rs2037920339
|
|
|
NM_020988.3(GNAO1):c.756C>T (p.Asp252=)
|
|
|
|
NM_020988.3(GNAO1):c.759C>T (p.Ser253=)
|
|
|
|
NM_020988.3(GNAO1):c.768C>T (p.Asn256=)
|
|
|
|
NM_020988.3(GNAO1):c.768CAA[1] (p.Asn257del)
|
rs1567496374
|
|
|
NM_020988.3(GNAO1):c.789C>G (p.Thr263=)
|
rs1265902011
|
|
|
NM_020988.3(GNAO1):c.793A>G (p.Ile265Val)
|
rs2037920534
|
|
|
NM_020988.3(GNAO1):c.804C>T (p.Phe268=)
|
|
|
|
NM_020988.3(GNAO1):c.820C>A (p.Leu274Ile)
|
|
|
|
NM_020988.3(GNAO1):c.843G>A (p.Lys281=)
|
|
|
|
NM_020988.3(GNAO1):c.84C>T (p.Ile28=)
|
|
|
|
NM_020988.3(GNAO1):c.877+19T>C
|
|
|
|
NM_020988.3(GNAO1):c.877+7G>C
|
|
|
|
NM_020988.3(GNAO1):c.877+7G>T
|
rs1596881898
|
|
|
NM_020988.3(GNAO1):c.878-13T>C
|
|
|
|
NM_020988.3(GNAO1):c.878-18T>C
|
|
|
|
NM_020988.3(GNAO1):c.878-7G>C
|
rs1370200465
|
|
|
NM_020988.3(GNAO1):c.888C>G (p.Thr296=)
|
|
|
|
NM_020988.3(GNAO1):c.909C>T (p.Tyr303=)
|
rs773032912
|
|
|
NM_020988.3(GNAO1):c.914A>G (p.Gln305Arg)
|
|
|
|
NM_020988.3(GNAO1):c.939C>T (p.Arg313=)
|
rs2037954101
|
|
|
NM_020988.3(GNAO1):c.960T>C (p.Tyr320=)
|
|
|
|
NM_020988.3(GNAO1):c.96A>G (p.Lys32=)
|
|
|
|
NM_020988.3(GNAO1):c.9T>C (p.Cys3=)
|
|
|
|
NM_021072.4(HCN1):c.1005A>G (p.Glu335=)
|
|
|
|
NM_021072.4(HCN1):c.1011+12C>G
|
|
|
|
NM_021072.4(HCN1):c.1011+16T>A
|
|
|
|
NM_021072.4(HCN1):c.1012-14A>T
|
rs112775315
|
|
|
NM_021072.4(HCN1):c.1012-18T>G
|
|
|
|
NM_021072.4(HCN1):c.1012-4G>T
|
rs1739694682
|
|
|
NM_021072.4(HCN1):c.1029G>A (p.Lys343=)
|
|
|
|
NM_021072.4(HCN1):c.1038A>C (p.Ser346=)
|
|
|
|
NM_021072.4(HCN1):c.1038A>G (p.Ser346=)
|
|
|
|
NM_021072.4(HCN1):c.1050C>T (p.Phe350=)
|
|
|
|
NM_021072.4(HCN1):c.1056T>C (p.Ala352=)
|
rs1579867117
|
|
|
NM_021072.4(HCN1):c.105C>G (p.Ala35=)
|
rs1336522225
|
|
|
NM_021072.4(HCN1):c.1069C>T (p.Leu357=)
|
|
|
|
NM_021072.4(HCN1):c.1094C>T (p.Ala365Val)
|
rs1739693084
|
|
|
NM_021072.4(HCN1):c.1095C>G (p.Ala365=)
|
|
|
|
NM_021072.4(HCN1):c.111G>A (p.Lys37=)
|
|
|
|
NM_021072.4(HCN1):c.1129C>T (p.Leu377=)
|
rs2112040746
|
|
|
NM_021072.4(HCN1):c.1139T>C (p.Ile380Thr)
|
rs1561139596
|
|
|
NM_021072.4(HCN1):c.1146G>A (p.Gly382=)
|
|
|
|
NM_021072.4(HCN1):c.115C>T (p.Leu39=)
|
rs1359131110
|
|
|
NM_021072.4(HCN1):c.1161C>T (p.Ala387=)
|
rs1579867053
|
|
|
NM_021072.4(HCN1):c.117G>T (p.Leu39=)
|
|
|
|
NM_021072.4(HCN1):c.1183G>A (p.Ala395Thr)
|
rs1739691061
|
|
|
NM_021072.4(HCN1):c.1186T>A (p.Leu396Ile)
|
rs1739691000
|
|
|
NM_021072.4(HCN1):c.1212G>A (p.Arg404=)
|
rs1554022673
|
|
|
NM_021072.4(HCN1):c.1215G>A (p.Arg405=)
|
rs770503728
|
|
|
NM_021072.4(HCN1):c.1230+11T>C
|
|
|
|
NM_021072.4(HCN1):c.1230+12T>A
|
|
|
|
NM_021072.4(HCN1):c.1230+14T>C
|
rs2112040547
|
|
|
NM_021072.4(HCN1):c.1230+19C>T
|
|
|
|
NM_021072.4(HCN1):c.1230+8_1230+9dup
|
rs757498614
|
|
|
NM_021072.4(HCN1):c.1231-11C>T
|
|
|
|
NM_021072.4(HCN1):c.1231-18A>G
|
|
|
|
NM_021072.4(HCN1):c.1233T>C (p.Tyr411=)
|
|
|
|
NM_021072.4(HCN1):c.1251C>T (p.Tyr417=)
|
|
|
|
NM_021072.4(HCN1):c.1257A>G (p.Ser419=)
|
|
|
|
NM_021072.4(HCN1):c.126G>A (p.Pro42=)
|
rs1740004296
|
|
|
NM_021072.4(HCN1):c.1299T>C (p.Asp433=)
|
|
|
|
NM_021072.4(HCN1):c.1329C>T (p.Ile443=)
|
rs1579834564
|
|
|
NM_021072.4(HCN1):c.132G>C (p.Gly44=)
|
rs2112109508
|
|
|
NM_021072.4(HCN1):c.1353T>C (p.Asn451=)
|
rs1554020038
|
|
|
NM_021072.4(HCN1):c.1359C>T (p.Leu453=)
|
rs2111983045
|
|
|
NM_021072.4(HCN1):c.135C>G (p.Gly45=)
|
|
|
|
NM_021072.4(HCN1):c.1377+19A>G
|
|
|
|
NM_021072.4(HCN1):c.1377+19A>T
|
|
|
|
NM_021072.4(HCN1):c.1377+7T>C
|
rs1746945188
|
|
|
NM_021072.4(HCN1):c.1378-11G>A
|
|
|
|
NM_021072.4(HCN1):c.1378-16C>T
|
|
|
|
NM_021072.4(HCN1):c.1378-4T>G
|
|
|
|
NM_021072.4(HCN1):c.1378-5T>A
|
rs1579794103
|
|
|
NM_021072.4(HCN1):c.1416A>G (p.Thr472=)
|
|
|
|
NM_021072.4(HCN1):c.1431T>A (p.Ala477=)
|
rs1299427978
|
|
|
NM_021072.4(HCN1):c.1474A>C (p.Arg492=)
|
rs2111905032
|
|
|
NM_021072.4(HCN1):c.1503T>C (p.Tyr501=)
|
rs1579793982
|
|
|
NM_021072.4(HCN1):c.1510C>T (p.Arg504Ter)
|
rs35229491
|
|
|
NM_021072.4(HCN1):c.1524G>T (p.Val508=)
|
|
|
|
NM_021072.4(HCN1):c.1539T>C (p.Tyr513=)
|
|
|
|
NM_021072.4(HCN1):c.1542C>T (p.Phe514=)
|
rs1579793918
|
|
|
NM_021072.4(HCN1):c.1554T>A (p.Gly518=)
|
|
|
|
NM_021072.4(HCN1):c.1599A>C (p.Thr533=)
|
|
|
|
NM_021072.4(HCN1):c.159C>T (p.His53=)
|
rs10066808
|
|
|
NM_021072.4(HCN1):c.1618+16G>T
|
|
|
|
NM_021072.4(HCN1):c.1618+20C>G
|
|
|
|
NM_021072.4(HCN1):c.1618+20C>T
|
|
|
|
NM_021072.4(HCN1):c.1618+9A>G
|
|
|
|
NM_021072.4(HCN1):c.1619-10G>C
|
|
|
|
NM_021072.4(HCN1):c.1619-19T>C
|
|
|
|
NM_021072.4(HCN1):c.1619-4A>G
|
rs752222441
|
|
|
NM_021072.4(HCN1):c.1619-5T>C
|
rs1579766462
|
|
|
NM_021072.4(HCN1):c.1619-9T>G
|
|
|
|
NM_021072.4(HCN1):c.1632G>C (p.Leu544=)
|
|
|
|
NM_021072.4(HCN1):c.1643G>A (p.Arg548His)
|
rs1554014649
|
|
|
NM_021072.4(HCN1):c.1647T>C (p.Arg549=)
|
rs1744876264
|
|
|
NM_021072.4(HCN1):c.1656T>C (p.Ser552=)
|
|
|
|
NM_021072.4(HCN1):c.1662A>T (p.Arg554=)
|
rs1472804069
|
|
|
NM_021072.4(HCN1):c.1674T>C (p.Tyr558=)
|
rs2111846818
|
|
|
NM_021072.4(HCN1):c.1680T>C (p.Arg560=)
|
rs1561081385
|
|
|
NM_021072.4(HCN1):c.1695C>T (p.Ser565=)
|
rs553446512
|
|
|
NM_021072.4(HCN1):c.1725A>G (p.Glu575=)
|
|
|
|
NM_021072.4(HCN1):c.1768C>A (p.Arg590=)
|
rs1744874434
|
|
|
NM_021072.4(HCN1):c.1777C>A (p.Arg593=)
|
|
|
|
NM_021072.4(HCN1):c.1783+14C>A
|
|
|
|
NM_021072.4(HCN1):c.1783+16A>G
|
rs770876235
|
|
|
NM_021072.4(HCN1):c.1783+17C>A
|
rs567989576
|
|
|
NM_021072.4(HCN1):c.1783+17C>T
|
rs567989576
|
|
|
NM_021072.4(HCN1):c.1783+18C>T
|
|
|
|
NM_021072.4(HCN1):c.1783+20T>C
|
|
|
|
NM_021072.4(HCN1):c.1783+8A>G
|
rs2111846632
|
|
|
NM_021072.4(HCN1):c.1784-19_1784-16del
|
rs746907457
|
|
|
NM_021072.4(HCN1):c.1784-6T>C
|
|
|
|
NM_021072.4(HCN1):c.1784-7C>T
|
|
|
|
NM_021072.4(HCN1):c.1809A>G (p.Gln603=)
|
|
|
|
NM_021072.4(HCN1):c.180G>A (p.Lys60=)
|
rs1215461701
|
|
|
NM_021072.4(HCN1):c.1850A>G (p.Gln617Arg)
|
|
|
|
NM_021072.4(HCN1):c.1851G>A (p.Gln617=)
|
|
|
|
NM_021072.4(HCN1):c.1869G>A (p.Lys623=)
|
|
|
|
NM_021072.4(HCN1):c.1875T>A (p.Ile625=)
|
|
|
|
NM_021072.4(HCN1):c.189C>A (p.Gly63=)
|
rs1580055249
|
|
|
NM_021072.4(HCN1):c.1908C>T (p.Ile636=)
|
rs1744774998
|
|
|
NM_021072.4(HCN1):c.1914C>T (p.Pro638=)
|
|
|
|
NM_021072.4(HCN1):c.1917C>A (p.Ile639=)
|
rs764520573
|
|
|
NM_021072.4(HCN1):c.192T>C (p.Gly64=)
|
rs1740002375
|
|
|
NM_021072.4(HCN1):c.192TGGCGGCGG[3] (p.Gly72_Gly74dup)
|
rs56064803
|
|
|
NM_021072.4(HCN1):c.192_206dup (p.Gly70_Gly74dup)
|
rs1485709375
|
|
|
NM_021072.4(HCN1):c.1938C>T (p.Thr646=)
|
|
|
|
NM_021072.4(HCN1):c.1941G>A (p.Leu647=)
|
rs924255101
|
|
|
NM_021072.4(HCN1):c.1950A>G (p.Thr650=)
|
rs750304269
|
|
|
NM_021072.4(HCN1):c.1952C>G (p.Ser651Trp)
|
rs771934361
|
|
|
NM_021072.4(HCN1):c.1953G>A (p.Ser651=)
|
|
|
|
NM_021072.4(HCN1):c.1953G>C (p.Ser651=)
|
|
|
|
NM_021072.4(HCN1):c.1967C>G (p.Pro656Arg)
|
rs1744773302
|
|
|
NM_021072.4(HCN1):c.1971C>T (p.Thr657=)
|
rs955267493
|
|
|
NM_021072.4(HCN1):c.198C>A (p.Gly66=)
|
|
|
|
NM_021072.4(HCN1):c.198C>G (p.Gly66=)
|
|
|
|
NM_021072.4(HCN1):c.1998G>C (p.Pro666=)
|
|
|
|
NM_021072.4(HCN1):c.200_223del (p.Gly67_Gly74del)
|
rs748849525
|
|
|
NM_021072.4(HCN1):c.2018T>G (p.Leu673Arg)
|
|
|
|
NM_021072.4(HCN1):c.201T>A (p.Gly67=)
|
|
|
|
NM_021072.4(HCN1):c.201_206del (p.Gly73_Gly74del)
|
|
|
|
NM_021072.4(HCN1):c.2025C>T (p.His675=)
|
rs2111839679
|
|
|
NM_021072.4(HCN1):c.2036A>G (p.His679Arg)
|
|
|
|
NM_021072.4(HCN1):c.2037C>T (p.His679=)
|
|
|
|
NM_021072.4(HCN1):c.203GCG[10] (p.Gly72_Gly74dup)
|
rs747975797
|
|
|
NM_021072.4(HCN1):c.203GCG[4] (p.Gly72_Gly74del)
|
rs747975797
|
|
|
NM_021072.4(HCN1):c.203GCG[6] (p.Gly74del)
|
rs747975797
|
|
|
NM_021072.4(HCN1):c.203GCG[8] (p.Gly74dup)
|
rs747975797
|
|
|
NM_021072.4(HCN1):c.2040C>T (p.Ser680=)
|
rs2111839646
|
|
|
NM_021072.4(HCN1):c.2041C>T (p.Pro681Ser)
|
rs1561079334
|
|
|
NM_021072.4(HCN1):c.2043C>G (p.Pro681=)
|
|
|
|
NM_021072.4(HCN1):c.2043C>T (p.Pro681=)
|
|
|
|
NM_021072.4(HCN1):c.2047C>A (p.Pro683Thr)
|
rs745344977
|
|
|
NM_021072.4(HCN1):c.2049C>T (p.Pro683=)
|
|
|
|
NM_021072.4(HCN1):c.2055A>G (p.Thr685=)
|
|
|
|
NM_021072.4(HCN1):c.2064C>T (p.Pro688=)
|
|
|
|
NM_021072.4(HCN1):c.2076C>T (p.Ala692=)
|
rs1016993157
|
|
|
NM_021072.4(HCN1):c.2100C>T (p.Thr700=)
|
|
|
|
NM_021072.4(HCN1):c.210C>T (p.Gly70=)
|
rs1461727986
|
|
|
NM_021072.4(HCN1):c.2140G>T (p.Ala714Ser)
|
rs775543627
|
|
|
NM_021072.4(HCN1):c.2143C>G (p.Arg715Gly)
|
|
|
|
NM_021072.4(HCN1):c.2145A>G (p.Arg715=)
|
rs903099002
|
|
|
NM_021072.4(HCN1):c.2159C>A (p.Ala720Asp)
|
rs1744765469
|
|
|
NM_021072.4(HCN1):c.2166C>G (p.Pro722=)
|
|
|
|
NM_021072.4(HCN1):c.216C>T (p.Gly72=)
|
|
|
|
NM_021072.4(HCN1):c.2172C>A (p.Ala724=)
|
|
|
|
NM_021072.4(HCN1):c.2179C>A (p.Leu727Met)
|
rs1744764524
|
|
|
NM_021072.4(HCN1):c.21C>G (p.Pro7=)
|
|
|
|
NM_021072.4(HCN1):c.2208G>A (p.Gln736=)
|
|
|
|
NM_021072.4(HCN1):c.2211G>A (p.Gln737=)
|
|
|
|
NM_021072.4(HCN1):c.2229G>T (p.Pro743=)
|
|
|
|
NM_021072.4(HCN1):c.223GAG[1] (p.Glu76del)
|
rs754966256
|
|
|
NM_021072.4(HCN1):c.2252C>G (p.Pro751Arg)
|
rs1052640717
|
|
|
NM_021072.4(HCN1):c.2253G>C (p.Pro751=)
|
rs1744762382
|
|
|
NM_021072.4(HCN1):c.2262G>A (p.Gln754=)
|
|
|
|
NM_021072.4(HCN1):c.2270C>T (p.Thr757Ile)
|
rs1579762677
|
|
|
NM_021072.4(HCN1):c.2326A>G (p.Asn776Asp)
|
rs2111838973
|
|
|
NM_021072.4(HCN1):c.2328C>T (p.Asn776=)
|
|
|
|
NM_021072.4(HCN1):c.2341C>G (p.Arg781Gly)
|
|
|
|
NM_021072.4(HCN1):c.234G>A (p.Ala78=)
|
rs752840004
|
|
|
NM_021072.4(HCN1):c.235G>C (p.Gly79Arg)
|
|
|
|
NM_021072.4(HCN1):c.2379G>A (p.Leu793=)
|
|
|
|
NM_021072.4(HCN1):c.237G>A (p.Gly79=)
|
|
|
|
NM_021072.4(HCN1):c.237G>C (p.Gly79=)
|
|
|
|
NM_021072.4(HCN1):c.2388G>A (p.Glu796=)
|
rs2111838849
|
|
|
NM_021072.4(HCN1):c.2391G>A (p.Val797=)
|
|
|
|
NM_021072.4(HCN1):c.2433C>T (p.Ser811=)
|
|
|
|
NM_021072.4(HCN1):c.2439C>A (p.Ala813=)
|
|
|
|
NM_021072.4(HCN1):c.243C>G (p.Phe81Leu)
|
rs2112109104
|
|
|
NM_021072.4(HCN1):c.2442C>T (p.Ser814=)
|
rs2111838716
|
|
|
NM_021072.4(HCN1):c.2451A>G (p.Gln817=)
|
|
|
|
NM_021072.4(HCN1):c.2454C>T (p.Pro818=)
|
|
|
|
NM_021072.4(HCN1):c.2475G>A (p.Thr825=)
|
|
|
|
NM_021072.4(HCN1):c.2478C>T (p.Gly826=)
|
rs2111838570
|
|
|
NM_021072.4(HCN1):c.2489G>C (p.Gly830Ala)
|
rs2111838550
|
|
|
NM_021072.4(HCN1):c.2538G>A (p.Ser846=)
|
|
|
|
NM_021072.4(HCN1):c.2550C>A (p.Ile850=)
|
|
|
|
NM_021072.4(HCN1):c.2550C>T (p.Ile850=)
|
|
|
|
NM_021072.4(HCN1):c.2555C>A (p.Pro852Gln)
|
rs201368368
|
|
|
NM_021072.4(HCN1):c.2561G>C (p.Arg854Pro)
|
rs1060500094
|
|
|
NM_021072.4(HCN1):c.2562A>C (p.Arg854=)
|
rs2111838209
|
|
|
NM_021072.4(HCN1):c.2565A>G (p.Gly855=)
|
rs1744749557
|
|
|
NM_021072.4(HCN1):c.2568C>A (p.Val856=)
|
rs781250348
|
|
|
NM_021072.4(HCN1):c.256G>A (p.Gly86Arg)
|
rs760568557
|
|
|
NM_021072.4(HCN1):c.258G>A (p.Gly86=)
|
|
|
|
NM_021072.4(HCN1):c.2598T>C (p.Ala866=)
|
rs894086520
|
|
|
NM_021072.4(HCN1):c.25T>C (p.Ser9Pro)
|
rs1554040148
|
|
|
NM_021072.4(HCN1):c.2635C>T (p.Pro879Ser)
|
rs761866949
|
|
|
NM_021072.4(HCN1):c.2640C>A (p.Asp880Glu)
|
|
|
|
NM_021072.4(HCN1):c.264G>A (p.Arg88=)
|
|
|
|
NM_021072.4(HCN1):c.267_268delinsAA (p.Gln90Lys)
|
rs2112109013
|
|
|
NM_021072.4(HCN1):c.279C>T (p.Phe93=)
|
rs2112108977
|
|
|
NM_021072.4(HCN1):c.27T>G (p.Ser9=)
|
|
|
|
NM_021072.4(HCN1):c.282G>A (p.Met94Ile)
|
rs748665278
|
|
|
NM_021072.4(HCN1):c.297C>A (p.Thr99=)
|
rs749348408
|
|
|
NM_021072.4(HCN1):c.297C>G (p.Thr99=)
|
rs749348408
|
|
|
NM_021072.4(HCN1):c.300C>T (p.Ser100=)
|
|
|
|
NM_021072.4(HCN1):c.30G>C (p.Ser10=)
|
|
|
|
NM_021072.4(HCN1):c.30G>T (p.Ser10=)
|
rs1459956316
|
|
|
NM_021072.4(HCN1):c.315G>C (p.Gly105=)
|
|
|
|
NM_021072.4(HCN1):c.319A>G (p.Asn107Asp)
|
rs2112108878
|
|
|
NM_021072.4(HCN1):c.327C>T (p.Phe109=)
|
|
|
|
NM_021072.4(HCN1):c.336C>A (p.Arg112=)
|
rs794726951
|
|
|
NM_021072.4(HCN1):c.336C>T (p.Arg112=)
|
|
|
|
NM_021072.4(HCN1):c.33T>C (p.Ser11=)
|
|
|
|
NM_021072.4(HCN1):c.357G>T (p.Ala119=)
|
|
|
|
NM_021072.4(HCN1):c.363A>G (p.Glu121=)
|
rs905624584
|
|
|
NM_021072.4(HCN1):c.372G>A (p.Gln124=)
|
|
|
|
NM_021072.4(HCN1):c.383A>G (p.Lys128Arg)
|
rs1739995339
|
|
|
NM_021072.4(HCN1):c.390A>C (p.Ala130=)
|
|
|
|
NM_021072.4(HCN1):c.393C>A (p.Gly131=)
|
|
|
|
NM_021072.4(HCN1):c.408C>T (p.His136=)
|
|
|
|
NM_021072.4(HCN1):c.414C>T (p.Tyr138=)
|
|
|
|
NM_021072.4(HCN1):c.425+10C>G
|
|
|
|
NM_021072.4(HCN1):c.425+11_425+12dup
|
|
|
|
NM_021072.4(HCN1):c.425+12C>G
|
rs748471108
|
|
|
NM_021072.4(HCN1):c.425+12C>T
|
|
|
|
NM_021072.4(HCN1):c.425+13G>T
|
|
|
|
NM_021072.4(HCN1):c.425+20G>T
|
|
|
|
NM_021072.4(HCN1):c.425+6G>A
|
|
|
|
NM_021072.4(HCN1):c.425+7G>A
|
|
|
|
NM_021072.4(HCN1):c.426-11A>G
|
|
|
|
NM_021072.4(HCN1):c.426-12T>A
|
rs1338629524
|
|
|
NM_021072.4(HCN1):c.426-19A>T
|
|
|
|
NM_021072.4(HCN1):c.426-20G>C
|
rs2112032435
|
|
|
NM_021072.4(HCN1):c.426-4G>A
|
rs1054399439
|
|
|
NM_021072.4(HCN1):c.426-7G>T
|
rs765966511
|
|
|
NM_021072.4(HCN1):c.492C>A (p.Ile164=)
|
|
|
|
NM_021072.4(HCN1):c.519A>T (p.Thr173=)
|
rs934881083
|
|
|
NM_021072.4(HCN1):c.522A>G (p.Pro174=)
|
|
|
|
NM_021072.4(HCN1):c.549T>C (p.Asp183=)
|
|
|
|
NM_021072.4(HCN1):c.561A>G (p.Leu187=)
|
rs745915622
|
|
|
NM_021072.4(HCN1):c.564G>A (p.Leu188=)
|
|
|
|
NM_021072.4(HCN1):c.567C>T (p.Asp189=)
|
|
|
|
NM_021072.4(HCN1):c.570G>C (p.Leu190=)
|
|
|
|
NM_021072.4(HCN1):c.636G>T (p.Val212=)
|
rs752579418
|
|
|
NM_021072.4(HCN1):c.643A>G (p.Met215Val)
|
rs975527828
|
|
|
NM_021072.4(HCN1):c.654A>G (p.Leu218=)
|
|
|
|
NM_021072.4(HCN1):c.660C>T (p.Ser220=)
|
|
|
|
NM_021072.4(HCN1):c.672T>C (p.Val224=)
|
|
|
|
NM_021072.4(HCN1):c.681C>A (p.Ile227=)
|
rs2112032005
|
|
|
NM_021072.4(HCN1):c.687C>T (p.Ser229=)
|
rs1442056712
|
|
|
NM_021072.4(HCN1):c.74C>A (p.Ala25Glu)
|
rs1469192494
|
|
|
NM_021072.4(HCN1):c.78C>G (p.Ser26=)
|
rs1245838252
|
|
|
NM_021072.4(HCN1):c.81G>T (p.Ala27=)
|
|
|
|
NM_021072.4(HCN1):c.826A>C (p.Arg276=)
|
|
|
|
NM_021072.4(HCN1):c.840A>G (p.Gln280=)
|
|
|
|
NM_021072.4(HCN1):c.849+11T>A
|
|
|
|
NM_021072.4(HCN1):c.849+13T>G
|
|
|
|
NM_021072.4(HCN1):c.849+15T>C
|
|
|
|
NM_021072.4(HCN1):c.849+8G>A
|
|
|
|
NM_021072.4(HCN1):c.84G>C (p.Thr28=)
|
rs1377682866
|
|
|
NM_021072.4(HCN1):c.850-5A>C
|
|
|
|
NM_021072.4(HCN1):c.858C>T (p.His286=)
|
|
|
|
NM_021072.4(HCN1):c.876C>T (p.Ala292=)
|
rs1741171103
|
|
|
NM_021072.4(HCN1):c.882A>G (p.Ala294=)
|
|
|
|
NM_021072.4(HCN1):c.90G>T (p.Ala30=)
|
rs1290982240
|
|
|
NM_021072.4(HCN1):c.93G>T (p.Gly31=)
|
|
|
|
NM_021072.4(HCN1):c.951C>T (p.Phe317=)
|
|
|
|
NM_021072.4(HCN1):c.99C>T (p.Ala33=)
|
|
|
|
NM_031844.3(HNRNPU):c.1017+15A>G
|
|
|
|
NM_031844.3(HNRNPU):c.1017+17G>T
|
|
|
|
NM_031844.3(HNRNPU):c.1017+18A>T
|
|
|
|
NM_031844.3(HNRNPU):c.1017+8C>G
|
rs1553283026
|
|
|
NM_031844.3(HNRNPU):c.1018-7C>T
|
|
|
|
NM_031844.3(HNRNPU):c.1018-8A>T
|
rs1573333012
|
|
|
NM_031844.3(HNRNPU):c.1023A>G (p.Thr341=)
|
|
|
|
NM_031844.3(HNRNPU):c.1032C>A (p.Ile344=)
|
|
|
|
NM_031844.3(HNRNPU):c.1032C>T (p.Ile344=)
|
|
|
|
NM_031844.3(HNRNPU):c.1041G>A (p.Arg347=)
|
|
|
|
NM_031844.3(HNRNPU):c.1053A>G (p.Thr351=)
|
rs2102987473
|
|
|
NM_031844.3(HNRNPU):c.1071T>C (p.His357=)
|
|
|
|
NM_031844.3(HNRNPU):c.109C>A (p.Arg37=)
|
|
|
|
NM_031844.3(HNRNPU):c.1104T>C (p.Ser368=)
|
|
|
|
NM_031844.3(HNRNPU):c.1117+10_1117+12del
|
rs745941525
|
|
|
NM_031844.3(HNRNPU):c.1118-15T>C
|
|
|
|
NM_031844.3(HNRNPU):c.1118-18G>T
|
rs2102987195
|
|
|
NM_031844.3(HNRNPU):c.1118-9T>C
|
rs2102987192
|
|
|
NM_031844.3(HNRNPU):c.1119T>G (p.Gly373=)
|
rs2102987178
|
|
|
NM_031844.3(HNRNPU):c.1137T>C (p.Tyr379=)
|
|
|
|
NM_031844.3(HNRNPU):c.1164A>G (p.Thr388=)
|
|
|
|
NM_031844.3(HNRNPU):c.1188T>C (p.Tyr396=)
|
rs2102987135
|
|
|
NM_031844.3(HNRNPU):c.1200TGA[1] (p.Asp401del)
|
rs1558187847
|
|
|
NM_031844.3(HNRNPU):c.1221A>G (p.Thr407=)
|
rs1321164224
|
|
|
NM_031844.3(HNRNPU):c.1230+14A>G
|
|
|
|
NM_031844.3(HNRNPU):c.1230+15A>G
|
|
|
|
NM_031844.3(HNRNPU):c.1230+20C>G
|
|
|
|
NM_031844.3(HNRNPU):c.1230+20C>T
|
rs748433309
|
|
|
NM_031844.3(HNRNPU):c.1230+20_1230+23del
|
|
|
|
NM_031844.3(HNRNPU):c.1230+8A>C
|
rs555094041
|
|
|
NM_031844.3(HNRNPU):c.1230+8A>T
|
rs555094041
|
|
|
NM_031844.3(HNRNPU):c.1231-10T>C
|
|
|
|
NM_031844.3(HNRNPU):c.1231-11C>T
|
|
|
|
NM_031844.3(HNRNPU):c.1231-12T>C
|
|
|
|
NM_031844.3(HNRNPU):c.1231-7G>A
|
|
|
|
NM_031844.3(HNRNPU):c.1231-9G>T
|
|
|
|
NM_031844.3(HNRNPU):c.124C>T (p.Leu42=)
|
rs1364614921
|
|
|
NM_031844.3(HNRNPU):c.1254A>G (p.Glu418=)
|
|
|
|
NM_031844.3(HNRNPU):c.1255C>T (p.Leu419Phe)
|
|
|
|
NM_031844.3(HNRNPU):c.1260G>A (p.Ser420=)
|
rs201637304
|
|
|
NM_031844.3(HNRNPU):c.1260G>T (p.Ser420=)
|
rs201637304
|
|
|
NM_031844.3(HNRNPU):c.1263T>C (p.Tyr421=)
|
|
|
|
NM_031844.3(HNRNPU):c.1271A>G (p.Asn424Ser)
|
|
|
|
NM_031844.3(HNRNPU):c.1282C>T (p.Leu428Phe)
|
|
|
|
NM_031844.3(HNRNPU):c.129C>T (p.Asp43=)
|
rs2102990998
|
|
|
NM_031844.3(HNRNPU):c.1302C>T (p.Ile434=)
|
|
|
|
NM_031844.3(HNRNPU):c.1311A>G (p.Glu437=)
|
|
|
|
NM_031844.3(HNRNPU):c.1316T>A (p.Leu439His)
|
|
|
|
NM_031844.3(HNRNPU):c.1319C>G (p.Ala440Gly)
|
rs373039242
|
|
|
NM_031844.3(HNRNPU):c.1329A>G (p.Pro443=)
|
rs777795507
|
|
|
NM_031844.3(HNRNPU):c.1336C>G (p.Pro446Ala)
|
rs2102986686
|
|
|
NM_031844.3(HNRNPU):c.1338G>A (p.Pro446=)
|
|
|
|
NM_031844.3(HNRNPU):c.1341T>C (p.His447=)
|
|
|
|
NM_031844.3(HNRNPU):c.1350C>T (p.Cys450=)
|
rs760166337
|
|
|
NM_031844.3(HNRNPU):c.1362A>G (p.Ala454=)
|
|
|
|
NM_031844.3(HNRNPU):c.1393C>T (p.Pro465Ser)
|
|
|
|
NM_031844.3(HNRNPU):c.13C>T (p.Pro5Ser)
|
|
|
|
NM_031844.3(HNRNPU):c.1404A>G (p.Pro468=)
|
rs768134567
|
|
|
NM_031844.3(HNRNPU):c.1409C>G (p.Pro470Arg)
|
|
|
|
NM_031844.3(HNRNPU):c.1413A>G (p.Glu471=)
|
rs1297107643
|
|
|
NM_031844.3(HNRNPU):c.141C>G (p.Ala47=)
|
|
|
|
NM_031844.3(HNRNPU):c.1422T>G (p.Thr474=)
|
rs886189976
|
|
|
NM_031844.3(HNRNPU):c.1425C>T (p.Phe475=)
|
|
|
|
NM_031844.3(HNRNPU):c.144G>A (p.Gly48=)
|
|
|
|
NM_031844.3(HNRNPU):c.1470G>C (p.Gly490=)
|
|
|
|
NM_031844.3(HNRNPU):c.1470G>T (p.Gly490=)
|
|
|
|
NM_031844.3(HNRNPU):c.1487A>G (p.Asp496Gly)
|
rs1274587234
|
|
|
NM_031844.3(HNRNPU):c.1494+11_1494+12insC
|
|
|
|
NM_031844.3(HNRNPU):c.1494+19T>A
|
rs765604666
|
|
|
NM_031844.3(HNRNPU):c.1494+19T>C
|
|
|
|
NM_031844.3(HNRNPU):c.1494+8A>G
|
rs766736866
|
|
|
NM_031844.3(HNRNPU):c.1494+8A>T
|
|
|
|
NM_031844.3(HNRNPU):c.1494+9T>C
|
|
|
|
NM_031844.3(HNRNPU):c.1495-11C>G
|
|
|
|
NM_031844.3(HNRNPU):c.1495-16C>G
|
|
|
|
NM_031844.3(HNRNPU):c.1495-16_1495-14del
|
rs767647451
|
|
|
NM_031844.3(HNRNPU):c.1495-5A>G
|
rs2102986405
|
|
|
NM_031844.3(HNRNPU):c.1495-6C>T
|
|
|
|
NM_031844.3(HNRNPU):c.1536C>T (p.Thr512=)
|
rs552747149
|
|
|
NM_031844.3(HNRNPU):c.1566A>G (p.Pro522=)
|
rs1573331235
|
|
|
NM_031844.3(HNRNPU):c.1569G>A (p.Gly523=)
|
|
|
|
NM_031844.3(HNRNPU):c.1588A>G (p.Thr530Ala)
|
|
|
|
NM_031844.3(HNRNPU):c.1614+11T>C
|
|
|
|
NM_031844.3(HNRNPU):c.1614+15T>C
|
|
|
|
NM_031844.3(HNRNPU):c.1614+20C>T
|
|
|
|
NM_031844.3(HNRNPU):c.1615-11T>G
|
rs1213559611
|
|
|
NM_031844.3(HNRNPU):c.1615-13C>T
|
|
|
|
NM_031844.3(HNRNPU):c.1615-8G>C
|
rs1680694709
|
|
|
NM_031844.3(HNRNPU):c.1647T>C (p.Thr549=)
|
|
|
|
NM_031844.3(HNRNPU):c.1680C>G (p.Pro560=)
|
|
|
|
NM_031844.3(HNRNPU):c.1680C>T (p.Pro560=)
|
|
|
|
NM_031844.3(HNRNPU):c.1716A>G (p.Arg572=)
|
|
|
|
NM_031844.3(HNRNPU):c.1722G>A (p.Lys574=)
|
|
|
|
NM_031844.3(HNRNPU):c.1723C>A (p.Arg575=)
|
|
|
|
NM_031844.3(HNRNPU):c.172G>C (p.Gly58Arg)
|
|
|
|
NM_031844.3(HNRNPU):c.1743+17A>C
|
|
|
|
NM_031844.3(HNRNPU):c.1743+20T>A
|
rs1449168514
|
|
|
NM_031844.3(HNRNPU):c.1743+8G>A
|
rs75674611
|
|
|
NM_031844.3(HNRNPU):c.1744-12C>T
|
|
|
|
NM_031844.3(HNRNPU):c.1744-13del
|
|
|
|
NM_031844.3(HNRNPU):c.1744-17A>C
|
|
|
|
NM_031844.3(HNRNPU):c.1744-17A>T
|
|
|
|
NM_031844.3(HNRNPU):c.1744-20A>C
|
|
|
|
NM_031844.3(HNRNPU):c.1744-4A>G
|
rs1242693487
|
|
|
NM_031844.3(HNRNPU):c.1746A>C (p.Thr582=)
|
|
|
|
NM_031844.3(HNRNPU):c.174C>T (p.Gly58=)
|
|
|
|
NM_031844.3(HNRNPU):c.1764C>A (p.Ala588=)
|
|
|
|
NM_031844.3(HNRNPU):c.1770G>A (p.Arg590=)
|
rs1573330255
|
|
|
NM_031844.3(HNRNPU):c.177C>T (p.Ser59=)
|
rs911651898
|
|
|
NM_031844.3(HNRNPU):c.1785G>A (p.Leu595=)
|
rs973383008
|
|
|
NM_031844.3(HNRNPU):c.178C>T (p.Leu60=)
|
rs747828993
|
|
|
NM_031844.3(HNRNPU):c.1803A>T (p.Arg601=)
|
rs1573330232
|
|
|
NM_031844.3(HNRNPU):c.1842G>A (p.Lys614=)
|
|
|
|
NM_031844.3(HNRNPU):c.1867G>T (p.Val623Leu)
|
rs759569722
|
|
|
NM_031844.3(HNRNPU):c.1869A>G (p.Val623=)
|
rs2102985697
|
|
|
NM_031844.3(HNRNPU):c.186G>A (p.Leu62=)
|
rs1680935711
|
|
|
NM_031844.3(HNRNPU):c.1884A>G (p.Leu628=)
|
rs2102985689
|
|
|
NM_031844.3(HNRNPU):c.1899C>G (p.Val633=)
|
|
|
|
NM_031844.3(HNRNPU):c.189C>T (p.Gly63=)
|
|
|
|
NM_031844.3(HNRNPU):c.1912+12T>A
|
|
|
|
NM_031844.3(HNRNPU):c.1912+17C>A
|
|
|
|
NM_031844.3(HNRNPU):c.1913-9T>C
|
|
|
|
NM_031844.3(HNRNPU):c.1920T>C (p.Phe640=)
|
|
|
|
NM_031844.3(HNRNPU):c.1922C>G (p.Thr641Ser)
|
rs745323844
|
|
|
NM_031844.3(HNRNPU):c.1926C>G (p.Leu642=)
|
|
|
|
NM_031844.3(HNRNPU):c.1929A>C (p.Pro643=)
|
rs1445734357
|
|
|
NM_031844.3(HNRNPU):c.1944C>T (p.Cys648=)
|
rs895356669
|
|
|
NM_031844.3(HNRNPU):c.1962T>C (p.Tyr654=)
|
|
|
|
NM_031844.3(HNRNPU):c.1986C>T (p.Ala662=)
|
rs1278714852
|
|
|
NM_031844.3(HNRNPU):c.1995C>A (p.Leu665=)
|
|
|
|
NM_031844.3(HNRNPU):c.2025G>A (p.Lys675=)
|
|
|
|
NM_031844.3(HNRNPU):c.2043G>A (p.Lys681=)
|
rs1573329677
|
|
|
NM_031844.3(HNRNPU):c.2053A>G (p.Thr685Ala)
|
rs2102985384
|
|
|
NM_031844.3(HNRNPU):c.2059T>C (p.Ser687Pro)
|
rs2102985380
|
|
|
NM_031844.3(HNRNPU):c.2118T>C (p.His706=)
|
rs1553282227
|
|
|
NM_031844.3(HNRNPU):c.2127T>G (p.Arg709=)
|
|
|
|
NM_031844.3(HNRNPU):c.2139T>C (p.Asn713=)
|
|
|
|
NM_031844.3(HNRNPU):c.2149G>A (p.Gly717Arg)
|
rs2102985318
|
|
|
NM_031844.3(HNRNPU):c.2160A>G (p.Arg720=)
|
|
|
|
NM_031844.3(HNRNPU):c.2167+20T>G
|
|
|
|
NM_031844.3(HNRNPU):c.2167+8A>G
|
|
|
|
NM_031844.3(HNRNPU):c.2168-10T>C
|
rs2102985130
|
|
|
NM_031844.3(HNRNPU):c.2168-11dup
|
rs1322267060
|
|
|
NM_031844.3(HNRNPU):c.2168-12C>T
|
rs200427582
|
|
|
NM_031844.3(HNRNPU):c.2168-13T>A
|
|
|
|
NM_031844.3(HNRNPU):c.2168-9G>A
|
|
|
|
NM_031844.3(HNRNPU):c.2175G>A (p.Gly725=)
|
|
|
|
NM_031844.3(HNRNPU):c.2181T>G (p.Arg727=)
|
|
|
|
NM_031844.3(HNRNPU):c.2184C>A (p.Gly728=)
|
|
|
|
NM_031844.3(HNRNPU):c.219C>T (p.Gly73=)
|
|
|
|
NM_031844.3(HNRNPU):c.223G>C (p.Glu75Gln)
|
rs773969888
|
|
|
NM_031844.3(HNRNPU):c.2256A>G (p.Pro752=)
|
rs1558185970
|
|
|
NM_031844.3(HNRNPU):c.2263C>T (p.Arg755Cys)
|
rs934976347
|
|
|
NM_031844.3(HNRNPU):c.2268C>T (p.Ala756=)
|
|
|
|
NM_031844.3(HNRNPU):c.2283C>T (p.Gly761=)
|
|
|
|
NM_031844.3(HNRNPU):c.2295C>T (p.Tyr765=)
|
|
|
|
NM_031844.3(HNRNPU):c.2331C>T (p.Pro777=)
|
|
|
|
NM_031844.3(HNRNPU):c.2334C>T (p.Asn778=)
|
rs1334935365
|
|
|
NM_031844.3(HNRNPU):c.2342A>C (p.Asn781Thr)
|
|
|
|
NM_031844.3(HNRNPU):c.234C>G (p.Ala78=)
|
rs770482398
|
|
|
NM_031844.3(HNRNPU):c.2352+10C>G
|
|
|
|
NM_031844.3(HNRNPU):c.2352+17C>G
|
|
|
|
NM_031844.3(HNRNPU):c.2352+19T>C
|
|
|
|
NM_031844.3(HNRNPU):c.2353-16_2353-15delinsAG
|
|
|
|
NM_031844.3(HNRNPU):c.2353-17G>A
|
|
|
|
NM_031844.3(HNRNPU):c.2353-22AG[2]
|
rs1558185713
|
|
|
NM_031844.3(HNRNPU):c.2364A>T (p.Gly788=)
|
|
|
|
NM_031844.3(HNRNPU):c.2373C>T (p.Asn791=)
|
|
|
|
NM_031844.3(HNRNPU):c.2390A>G (p.Asn797Ser)
|
|
|
|
NM_031844.3(HNRNPU):c.2391T>C (p.Asn797=)
|
|
|
|
NM_031844.3(HNRNPU):c.2394A>G (p.Gln798=)
|
|
|
|
NM_031844.3(HNRNPU):c.2403C>T (p.Gly801=)
|
rs2102984661
|
|
|
NM_031844.3(HNRNPU):c.2421G>C (p.Gln807His)
|
rs2102984647
|
|
|
NM_031844.3(HNRNPU):c.2424+11T>A
|
|
|
|
NM_031844.3(HNRNPU):c.2424+16T>G
|
|
|
|
NM_031844.3(HNRNPU):c.2425-15_2425-14del
|
rs751856636
|
|
|
NM_031844.3(HNRNPU):c.2460T>C (p.Tyr820=)
|
|
|
|
NM_031844.3(HNRNPU):c.2464C>T (p.Gln822Ter)
|
rs542905297
|
|
|
NM_031844.3(HNRNPU):c.246C>T (p.Gly82=)
|
|
|
|
NM_031844.3(HNRNPU):c.24A>G (p.Val8=)
|
|
|
|
NM_031844.3(HNRNPU):c.255GGA[1] (p.Glu93_Glu94del)
|
rs772147656
|
|
|
NM_031844.3(HNRNPU):c.255GGA[2] (p.Glu94del)
|
rs772147656
|
|
|
NM_031844.3(HNRNPU):c.255GGA[5] (p.Glu93_Glu94dup)
|
rs772147656
|
|
|
NM_031844.3(HNRNPU):c.258G>A (p.Glu86=)
|
|
|
|
NM_031844.3(HNRNPU):c.264A>G (p.Glu88=)
|
|
|
|
NM_031844.3(HNRNPU):c.264AGAGGA[1] (p.Glu93_Glu94del)
|
rs770670938
|
|
|
NM_031844.3(HNRNPU):c.266_283del (p.Glu89_Glu94del)
|
|
|
|
NM_031844.3(HNRNPU):c.279G>A (p.Glu93=)
|
rs1573338165
|
|
|
NM_031844.3(HNRNPU):c.291C>T (p.Ser97=)
|
|
|
|
NM_031844.3(HNRNPU):c.295C>T (p.Leu99=)
|
|
|
|
NM_031844.3(HNRNPU):c.301G>C (p.Gly101Arg)
|
rs1680930955
|
|
|
NM_031844.3(HNRNPU):c.316C>T (p.Leu106=)
|
rs778359181
|
|
|
NM_031844.3(HNRNPU):c.324G>A (p.Glu108=)
|
|
|
|
NM_031844.3(HNRNPU):c.332G>C (p.Gly111Ala)
|
|
|
|
NM_031844.3(HNRNPU):c.336C>G (p.Ala112=)
|
rs753169165
|
|
|
NM_031844.3(HNRNPU):c.360G>A (p.Pro120=)
|
|
|
|
NM_031844.3(HNRNPU):c.36G>A (p.Lys12=)
|
|
|
|
NM_031844.3(HNRNPU):c.375G>A (p.Glu125=)
|
rs752671029
|
|
|
NM_031844.3(HNRNPU):c.378C>T (p.Ala126=)
|
|
|
|
NM_031844.3(HNRNPU):c.384G>A (p.Ser128=)
|
rs2102990726
|
|
|
NM_031844.3(HNRNPU):c.390C>T (p.Asp130=)
|
rs200754123
|
|
|
NM_031844.3(HNRNPU):c.39G>C (p.Val13=)
|
|
|
|
NM_031844.3(HNRNPU):c.408G>A (p.Gln136=)
|
|
|
|
NM_031844.3(HNRNPU):c.417G>A (p.Gln139=)
|
|
|
|
NM_031844.3(HNRNPU):c.432G>A (p.Glu144=)
|
|
|
|
NM_031844.3(HNRNPU):c.435C>A (p.Leu145=)
|
|
|
|
NM_031844.3(HNRNPU):c.435C>T (p.Leu145=)
|
|
|
|
NM_031844.3(HNRNPU):c.441C>T (p.Asp147=)
|
|
|
|
NM_031844.3(HNRNPU):c.444A>G (p.Glu148=)
|
|
|
|
NM_031844.3(HNRNPU):c.455C>T (p.Ala152Val)
|
rs1680926034
|
|
|
NM_031844.3(HNRNPU):c.469G>A (p.Gly157Arg)
|
|
|
|
NM_031844.3(HNRNPU):c.469G>C (p.Gly157Arg)
|
rs1680925526
|
|
|
NM_031844.3(HNRNPU):c.46C>T (p.Leu16=)
|
rs1573338565
|
|
|
NM_031844.3(HNRNPU):c.489T>C (p.Pro163=)
|
rs760562563
|
|
|
NM_031844.3(HNRNPU):c.492A>G (p.Gln164=)
|
rs982861371
|
|
|
NM_031844.3(HNRNPU):c.495G>A (p.Pro165=)
|
rs1230496425
|
|
|
NM_031844.3(HNRNPU):c.507G>C (p.Gln169His)
|
rs139561508
|
|
|
NM_031844.3(HNRNPU):c.519C>G (p.Pro173=)
|
rs1680923601
|
|
|
NM_031844.3(HNRNPU):c.531C>T (p.Arg177=)
|
|
|
|
NM_031844.3(HNRNPU):c.543G>A (p.Lys181=)
|
|
|
|
NM_031844.3(HNRNPU):c.568C>G (p.Pro190Ala)
|
rs1680921689
|
|
|
NM_031844.3(HNRNPU):c.573C>T (p.Thr191=)
|
rs1295513946
|
|
|
NM_031844.3(HNRNPU):c.577C>T (p.Leu193=)
|
|
|
|
NM_031844.3(HNRNPU):c.583G>A (p.Ala195Thr)
|
|
|
|
NM_031844.3(HNRNPU):c.585G>A (p.Ala195=)
|
|
|
|
NM_031844.3(HNRNPU):c.591G>C (p.Thr197=)
|
rs1159406089
|
|
|
NM_031844.3(HNRNPU):c.598C>G (p.Pro200Ala)
|
rs2102990517
|
|
|
NM_031844.3(HNRNPU):c.600G>A (p.Pro200=)
|
|
|
|
NM_031844.3(HNRNPU):c.603C>G (p.Pro201=)
|
rs759371036
|
|
|
NM_031844.3(HNRNPU):c.609G>A (p.Ala203=)
|
rs1204338667
|
|
|
NM_031844.3(HNRNPU):c.60C>G (p.Leu20=)
|
|
|
|
NM_031844.3(HNRNPU):c.615G>A (p.Gln205=)
|
rs1221660331
|
|
|
NM_031844.3(HNRNPU):c.618C>T (p.Gly206=)
|
|
|
|
NM_031844.3(HNRNPU):c.651AGGCGGCGG[1] (p.Gly221_Gly223del)
|
rs757585114
|
|
|
NM_031844.3(HNRNPU):c.665G>T (p.Gly222Val)
|
|
|
|
NM_031844.3(HNRNPU):c.666C>T (p.Gly222=)
|
|
|
|
NM_031844.3(HNRNPU):c.674C>G (p.Pro225Arg)
|
rs1429007292
|
|
|
NM_031844.3(HNRNPU):c.675C>T (p.Pro225=)
|
|
|
|
NM_031844.3(HNRNPU):c.688G>C (p.Ala230Pro)
|
|
|
|
NM_031844.3(HNRNPU):c.691+11C>T
|
|
|
|
NM_031844.3(HNRNPU):c.691+16T>G
|
|
|
|
NM_031844.3(HNRNPU):c.692-13G>A
|
|
|
|
NM_031844.3(HNRNPU):c.692-17G>A
|
|
|
|
NM_031844.3(HNRNPU):c.705A>G (p.Thr235=)
|
rs2102989500
|
|
|
NM_031844.3(HNRNPU):c.729G>A (p.Lys243=)
|
|
|
|
NM_031844.3(HNRNPU):c.72C>T (p.Arg24=)
|
|
|
|
NM_031844.3(HNRNPU):c.738T>A (p.Val246=)
|
|
|
|
NM_031844.3(HNRNPU):c.747A>C (p.Pro249=)
|
|
|
|
NM_031844.3(HNRNPU):c.803+14A>C
|
|
|
|
NM_031844.3(HNRNPU):c.803+14A>G
|
|
|
|
NM_031844.3(HNRNPU):c.803+16C>A
|
rs1344199750
|
|
|
NM_031844.3(HNRNPU):c.803+16C>T
|
|
|
|
NM_031844.3(HNRNPU):c.803+17T>A
|
|
|
|
NM_031844.3(HNRNPU):c.803+18A>G
|
|
|
|
NM_031844.3(HNRNPU):c.803+4_803+6dup
|
|
|
|
NM_031844.3(HNRNPU):c.803+7G>A
|
|
|
|
NM_031844.3(HNRNPU):c.804-11C>T
|
|
|
|
NM_031844.3(HNRNPU):c.804-11_804-10del
|
|
|
|
NM_031844.3(HNRNPU):c.804-14dup
|
|
|
|
NM_031844.3(HNRNPU):c.804-17dup
|
|
|
|
NM_031844.3(HNRNPU):c.804-20G>A
|
|
|
|
NM_031844.3(HNRNPU):c.81C>A (p.Asp27Glu)
|
|
|
|
NM_031844.3(HNRNPU):c.838G>A (p.Asp280Asn)
|
|
|
|
NM_031844.3(HNRNPU):c.849C>T (p.Phe283=)
|
rs200804217
|
|
|
NM_031844.3(HNRNPU):c.861G>C (p.Val287=)
|
|
|
|
NM_031844.3(HNRNPU):c.870T>G (p.Leu290=)
|
|
|
|
NM_031844.3(HNRNPU):c.877+12T>G
|
rs1295049956
|
|
|
NM_031844.3(HNRNPU):c.877+13G>T
|
|
|
|
NM_031844.3(HNRNPU):c.877+16dup
|
rs745911562
|
|
|
NM_031844.3(HNRNPU):c.877+9A>G
|
|
|
|
NM_031844.3(HNRNPU):c.878-12A>G
|
|
|
|
NM_031844.3(HNRNPU):c.878-12A>T
|
|
|
|
NM_031844.3(HNRNPU):c.878-13G>A
|
rs115293649
|
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NM_031844.3(HNRNPU):c.878-13G>T
|
rs115293649
|
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NM_031844.3(HNRNPU):c.878-18T>C
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NM_031844.3(HNRNPU):c.878-21_878-20del
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NM_031844.3(HNRNPU):c.891A>G (p.Leu297=)
|
rs1246066090
|
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NM_031844.3(HNRNPU):c.927T>C (p.Ser309=)
|
rs2102988078
|
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NM_031844.3(HNRNPU):c.933T>A (p.Leu311=)
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NM_031844.3(HNRNPU):c.966A>C (p.Gly322=)
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NM_031844.3(HNRNPU):c.96C>G (p.Ala32=)
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NM_031844.3(HNRNPU):c.9C>G (p.Ser3=)
|
rs886231659
|
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NM_139058.3(ARX):c.1005C>T (p.Phe335=)
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NM_139058.3(ARX):c.1008C>A (p.Thr336=)
|
rs2147323576
|
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NM_139058.3(ARX):c.1014C>T (p.Tyr338=)
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NM_139058.3(ARX):c.1017G>A (p.Gln339=)
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NM_139058.3(ARX):c.1026A>G (p.Glu342=)
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NM_139058.3(ARX):c.1033C>A (p.Arg345=)
|
rs1601948273
|
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NM_139058.3(ARX):c.1050G>A (p.Thr350=)
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NM_139058.3(ARX):c.1059G>A (p.Pro353=)
|
rs1060504804
|
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NM_139058.3(ARX):c.1062C>T (p.Asp354=)
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NM_139058.3(ARX):c.1073+13G>A
|
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NM_139058.3(ARX):c.1073+14G>T
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NM_139058.3(ARX):c.1073+18T>C
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NM_139058.3(ARX):c.1073+7G>A
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NM_139058.3(ARX):c.1073+8C>A
|
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NM_139058.3(ARX):c.1073+9G>A
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NM_139058.3(ARX):c.1074-20T>G
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NM_139058.3(ARX):c.1074-5T>C
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NM_139058.3(ARX):c.1074-7C>A
|
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NM_139058.3(ARX):c.1083G>A (p.Leu361=)
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NM_139058.3(ARX):c.1083G>C (p.Leu361=)
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NM_139058.3(ARX):c.1095G>C (p.Leu365=)
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NM_139058.3(ARX):c.1095G>T (p.Leu365=)
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NM_139058.3(ARX):c.1116C>A (p.Val372=)
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NM_139058.3(ARX):c.1119+14C>T
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NM_139058.3(ARX):c.1119+16G>A
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NM_139058.3(ARX):c.1119+20G>A
|
rs2048696652
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NM_139058.3(ARX):c.1120-12T>G
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NM_139058.3(ARX):c.1120-17CT[3]
|
rs763304807
|
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NM_139058.3(ARX):c.1120-4G>A
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NM_139058.3(ARX):c.1120-5del
|
rs2147320646
|
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NM_139058.3(ARX):c.1143C>T (p.Ala381=)
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NM_139058.3(ARX):c.1155G>A (p.Lys385=)
|
rs1053434875
|
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NM_139058.3(ARX):c.1158G>T (p.Arg386=)
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NM_139058.3(ARX):c.1173G>A (p.Ala391=)
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NM_139058.3(ARX):c.1185C>T (p.Pro395=)
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NM_139058.3(ARX):c.1203G>C (p.Pro401=)
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NM_139058.3(ARX):c.1209G>A (p.Pro403=)
|
rs1380487514
|
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NM_139058.3(ARX):c.1209G>C (p.Pro403=)
|
rs1380487514
|
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NM_139058.3(ARX):c.1230C>G (p.Leu410=)
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NM_139058.3(ARX):c.1239C>T (p.Tyr413=)
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|
NM_139058.3(ARX):c.1245C>T (p.Asp415=)
|
rs2147320537
|
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NM_139058.3(ARX):c.1248C>T (p.Ala416=)
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NM_139058.3(ARX):c.125G>C (p.Arg42Pro)
|
rs763796730
|
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NM_139058.3(ARX):c.1263G>A (p.Pro421=)
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NM_139058.3(ARX):c.1263G>T (p.Pro421=)
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NM_139058.3(ARX):c.1275G>T (p.Ala425=)
|
rs2048682544
|
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NM_139058.3(ARX):c.1278C>G (p.Leu426=)
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NM_139058.3(ARX):c.1296C>T (p.Ala432=)
|
rs990653917
|
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NM_139058.3(ARX):c.1299T>A (p.Ala433=)
|
rs952488301
|
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NM_139058.3(ARX):c.1299T>C (p.Ala433=)
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NM_139058.3(ARX):c.1299_1310del (p.Ala437_Ala440del)
|
rs776061068
|
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NM_139058.3(ARX):c.1302C>T (p.Ala434=)
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NM_139058.3(ARX):c.1305C>T (p.Ala435=)
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NM_139058.3(ARX):c.1308C>T (p.Ala436=)
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NM_139058.3(ARX):c.1311C>A (p.Ala437=)
|
rs1307707269
|
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NM_139058.3(ARX):c.1311C>T (p.Ala437=)
|
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NM_139058.3(ARX):c.1314C>T (p.Ala438=)
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NM_139058.3(ARX):c.1320C>T (p.Ala440=)
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NM_139058.3(ARX):c.1323C>T (p.Phe441=)
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NM_139058.3(ARX):c.1326G>C (p.Pro442=)
|
rs774538294
|
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NM_139058.3(ARX):c.132G>C (p.Leu44=)
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NM_139058.3(ARX):c.1330C>T (p.Leu444=)
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NM_139058.3(ARX):c.1338G>T (p.Pro446=)
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NM_139058.3(ARX):c.1344G>C (p.Pro448=)
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NM_139058.3(ARX):c.1350G>C (p.Ser450=)
|
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|
NM_139058.3(ARX):c.1362G>A (p.Pro454=)
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NM_139058.3(ARX):c.1362G>T (p.Pro454=)
|
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NM_139058.3(ARX):c.1371G>T (p.Gly457=)
|
rs781348930
|
|
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NM_139058.3(ARX):c.1374G>A (p.Ala458=)
|
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|
NM_139058.3(ARX):c.138C>A (p.Ala46=)
|
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NM_139058.3(ARX):c.1404G>A (p.Ala468=)
|
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NM_139058.3(ARX):c.141G>A (p.Ala47=)
|
|
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|
NM_139058.3(ARX):c.1425T>C (p.Ala475=)
|
rs2147320329
|
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NM_139058.3(ARX):c.1428C>T (p.Phe476=)
|
|
|
|
NM_139058.3(ARX):c.1443C>T (p.Phe481=)
|
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NM_139058.3(ARX):c.1446C>G (p.Gly482=)
|
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NM_139058.3(ARX):c.1448+11G>C
|
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NM_139058.3(ARX):c.1448+14T>C
|
rs1201797048
|
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|
NM_139058.3(ARX):c.1448+15C>T
|
rs2147320273
|
|
|
NM_139058.3(ARX):c.1448+16G>A
|
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NM_139058.3(ARX):c.1448+19del
|
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NM_139058.3(ARX):c.1448+20G>A
|
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NM_139058.3(ARX):c.1448+7_1448+9del
|
rs2147320285
|
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NM_139058.3(ARX):c.1448+8G>A
|
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NM_139058.3(ARX):c.1449-10C>T
|
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NM_139058.3(ARX):c.1449-11T>C
|
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NM_139058.3(ARX):c.1449-13G>A
|
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NM_139058.3(ARX):c.1449-20G>A
|
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NM_139058.3(ARX):c.1449-4G>A
|
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NM_139058.3(ARX):c.144G>A (p.Gln48=)
|
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NM_139058.3(ARX):c.1470C>A (p.Pro490=)
|
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NM_139058.3(ARX):c.1473G>C (p.Leu491=)
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NM_139058.3(ARX):c.1479C>T (p.Ser493=)
|
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|
NM_139058.3(ARX):c.1491G>T (p.Ala497=)
|
rs1021002740
|
|
|
NM_139058.3(ARX):c.1494C>G (p.Ala498=)
|
|
|
|
NM_139058.3(ARX):c.1497G>A (p.Ala499=)
|
rs770318189
|
|
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NM_139058.3(ARX):c.1497G>C (p.Ala499=)
|
rs770318189
|
|
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NM_139058.3(ARX):c.1497G>T (p.Ala499=)
|
rs770318189
|
|
|
NM_139058.3(ARX):c.14A>T (p.Tyr5Phe)
|
|
|
|
NM_139058.3(ARX):c.1500C>G (p.Leu500=)
|
|
|
|
NM_139058.3(ARX):c.1503G>A (p.Leu501=)
|
rs2147318758
|
|
|
NM_139058.3(ARX):c.1518C>G (p.Pro506=)
|
rs1601945679
|
|
|
NM_139058.3(ARX):c.1530C>A (p.Gly510=)
|
|
|
|
NM_139058.3(ARX):c.1533A>G (p.Ala511=)
|
rs1556046751
|
|
|
NM_139058.3(ARX):c.1542G>C (p.Ser514=)
|
rs1240255602
|
|
|
NM_139058.3(ARX):c.1566G>C (p.Thr522=)
|
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|
NM_139058.3(ARX):c.1569G>A (p.Ala523=)
|
|
|
|
NM_139058.3(ARX):c.1569G>C (p.Ala523=)
|
rs1601945635
|
|
|
NM_139058.3(ARX):c.1575A>T (p.Ala525=)
|
|
|
|
NM_139058.3(ARX):c.1587C>G (p.Ala529=)
|
|
|
|
NM_139058.3(ARX):c.1587C>T (p.Ala529=)
|
rs1601945617
|
|
|
NM_139058.3(ARX):c.1590T>A (p.Ser530=)
|
|
|
|
NM_139058.3(ARX):c.1599C>A (p.Ala533=)
|
rs1057523196
|
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|
NM_139058.3(ARX):c.1602G>A (p.Ala534=)
|
|
|
|
NM_139058.3(ARX):c.1602G>C (p.Ala534=)
|
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NM_139058.3(ARX):c.1611C>G (p.Leu537=)
|
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|
NM_139058.3(ARX):c.1629G>A (p.Ala543=)
|
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|
NM_139058.3(ARX):c.1638C>G (p.Leu546=)
|
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|
NM_139058.3(ARX):c.1638C>T (p.Leu546=)
|
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|
NM_139058.3(ARX):c.1641G>A (p.Thr547=)
|
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|
NM_139058.3(ARX):c.1659G>A (p.Pro553=)
|
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|
NM_139058.3(ARX):c.1677G>A (p.Lys559=)
|
rs2147318581
|
|
|
NM_139058.3(ARX):c.174C>A (p.Ala58=)
|
|
|
|
NM_139058.3(ARX):c.180G>T (p.Pro60=)
|
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NM_139058.3(ARX):c.196+15G>A
|
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|
NM_139058.3(ARX):c.197-15C>T
|
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|
NM_139058.3(ARX):c.197-5C>T
|
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|
NM_139058.3(ARX):c.216C>T (p.Ser72=)
|
|
|
|
NM_139058.3(ARX):c.219C>T (p.Ala73=)
|
|
|
|
NM_139058.3(ARX):c.222G>A (p.Pro74=)
|
rs2048714056
|
|
|
NM_139058.3(ARX):c.222G>T (p.Pro74=)
|
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|
NM_139058.3(ARX):c.240C>T (p.His80=)
|
|
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|
NM_139058.3(ARX):c.252G>A (p.Lys84=)
|
|
|
|
NM_139058.3(ARX):c.264G>A (p.Leu88=)
|
rs1556056513
|
|
|
NM_139058.3(ARX):c.267C>T (p.Tyr89=)
|
rs1060504805
|
|
|
NM_139058.3(ARX):c.273G>A (p.Pro91=)
|
|
|
|
NM_139058.3(ARX):c.273G>C (p.Pro91=)
|
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|
NM_139058.3(ARX):c.276C>T (p.Gly92=)
|
|
|
|
NM_139058.3(ARX):c.279G>A (p.Gly93=)
|
rs1299202405
|
|
|
NM_139058.3(ARX):c.279G>T (p.Gly93=)
|
|
|
|
NM_139058.3(ARX):c.27C>G (p.Gly9=)
|
|
|
|
NM_139058.3(ARX):c.291T>C (p.Leu97=)
|
rs2147324418
|
|
|
NM_139058.3(ARX):c.294G>A (p.Gln98=)
|
|
|
|
NM_139058.3(ARX):c.300G>C (p.Ala100=)
|
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|
NM_139058.3(ARX):c.303A>C (p.Ala101=)
|
|
|
|
NM_139058.3(ARX):c.303_305del (p.Ala115del)
|
|
|
|
NM_139058.3(ARX):c.303_308del (p.Ala114_Ala115del)
|
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|
|
NM_139058.3(ARX):c.303_311del (p.Ala113_Ala115del)
|
|
|
|
NM_139058.3(ARX):c.306G>A (p.Ala102=)
|
rs587783196
|
|
|
NM_139058.3(ARX):c.306G>C (p.Ala102=)
|
|
|
|
NM_139058.3(ARX):c.306GGC[11] (p.Ala115dup)
|
rs387906492
|
|
|
NM_139058.3(ARX):c.306GGC[7] (p.Ala113_Ala115del)
|
rs387906492
|
|
|
NM_139058.3(ARX):c.312G>A (p.Ala104=)
|
rs1419161057
|
|
|
NM_139058.3(ARX):c.312G>C (p.Ala104=)
|
|
|
|
NM_139058.3(ARX):c.312G>T (p.Ala104=)
|
|
|
|
NM_139058.3(ARX):c.315G>A (p.Ala105=)
|
rs2048713533
|
|
|
NM_139058.3(ARX):c.324G>A (p.Ala108=)
|
|
|
|
NM_139058.3(ARX):c.333G>C (p.Ala111=)
|
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|
NM_139058.3(ARX):c.333G>T (p.Ala111=)
|
|
|
|
NM_139058.3(ARX):c.336_338dup (p.Ala115_Thr116insAla)
|
|
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|
NM_139058.3(ARX):c.33C>T (p.Ser11=)
|
|
|
|
NM_139058.3(ARX):c.342C>G (p.Ala114=)
|
rs2147324330
|
|
|
NM_139058.3(ARX):c.345C>G (p.Ala115=)
|
rs2147324328
|
|
|
NM_139058.3(ARX):c.348G>A (p.Thr116=)
|
rs1601948719
|
|
|
NM_139058.3(ARX):c.354G>A (p.Thr118=)
|
|
|
|
NM_139058.3(ARX):c.363A>G (p.Pro121=)
|
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|
NM_139058.3(ARX):c.387A>C (p.Pro129=)
|
|
|
|
NM_139058.3(ARX):c.390G>T (p.Pro130=)
|
rs2147324273
|
|
|
NM_139058.3(ARX):c.399G>A (p.Ala133=)
|
rs2147324267
|
|
|
NM_139058.3(ARX):c.414G>A (p.Arg138=)
|
|
|
|
NM_139058.3(ARX):c.414G>T (p.Arg138=)
|
|
|
|
NM_139058.3(ARX):c.420C>T (p.Asp140=)
|
rs2147324243
|
|
|
NM_139058.3(ARX):c.426A>C (p.Ala142=)
|
|
|
|
NM_139058.3(ARX):c.426A>T (p.Ala142=)
|
|
|
|
NM_139058.3(ARX):c.428_451del (p.Gly143_Ala150del)
|
rs387906493
|
|
|
NM_139058.3(ARX):c.42C>G (p.Pro14=)
|
rs2048724355
|
|
|
NM_139058.3(ARX):c.42C>T (p.Pro14=)
|
|
|
|
NM_139058.3(ARX):c.432C>G (p.Ala144=)
|
|
|
|
NM_139058.3(ARX):c.432C>T (p.Ala144=)
|
|
|
|
NM_139058.3(ARX):c.432_446del (p.Ala151_Ala155del)
|
rs2147324216
|
|
|
NM_139058.3(ARX):c.435C>G (p.Ala145=)
|
|
|
|
NM_139058.3(ARX):c.438_458del (p.Ala149_Ala155del)
|
rs2048712160
|
|
|
NM_139058.3(ARX):c.441A>C (p.Ala147=)
|
rs797045301
|
|
|
NM_139058.3(ARX):c.441A>G (p.Ala147=)
|
rs797045301
|
|
|
NM_139058.3(ARX):c.441_446del (p.Ala154_Ala155del)
|
rs1460450589
|
|
|
NM_139058.3(ARX):c.441_449del (p.Ala153_Ala155del)
|
|
|
|
NM_139058.3(ARX):c.447GGCCGC[1] (p.Ala154_Ala155del)
|
|
|
|
NM_139058.3(ARX):c.448GCCGCGGCC[1] (p.Ala153_Ala155del)
|
rs797045302
|
|
|
NM_139058.3(ARX):c.450C>T (p.Ala150=)
|
|
|
|
NM_139058.3(ARX):c.451_465del (p.Ala151_Ala155del)
|
rs757588621
|
|
|
NM_139058.3(ARX):c.453G>A (p.Ala151=)
|
|
|
|
NM_139058.3(ARX):c.453G>C (p.Ala151=)
|
rs878855205
|
|
|
NM_139058.3(ARX):c.456C>A (p.Ala152=)
|
|
|
|
NM_139058.3(ARX):c.457G>A (p.Ala153Thr)
|
rs2048712192
|
|
|
NM_139058.3(ARX):c.462G>C (p.Ala154=)
|
|
|
|
NM_139058.3(ARX):c.462G>T (p.Ala154=)
|
|
|
|
NM_139058.3(ARX):c.492G>A (p.Ala164=)
|
|
|
|
NM_139058.3(ARX):c.495G>T (p.Pro165=)
|
|
|
|
NM_139058.3(ARX):c.498G>A (p.Gln166=)
|
|
|
|
NM_139058.3(ARX):c.501G>A (p.Val167=)
|
rs2048711777
|
|
|
NM_139058.3(ARX):c.504C>T (p.Ser168=)
|
|
|
|
NM_139058.3(ARX):c.510C>T (p.Ser170=)
|
rs2147324103
|
|
|
NM_139058.3(ARX):c.522G>T (p.Ser174=)
|
rs2048711689
|
|
|
NM_139058.3(ARX):c.528C>T (p.Arg176=)
|
|
|
|
NM_139058.3(ARX):c.540G>A (p.Ala180=)
|
rs794727309
|
|
|
NM_139058.3(ARX):c.549G>A (p.Val183=)
|
|
|
|
NM_139058.3(ARX):c.552G>A (p.Pro184=)
|
|
|
|
NM_139058.3(ARX):c.552G>C (p.Pro184=)
|
rs2147324063
|
|
|
NM_139058.3(ARX):c.561C>G (p.Pro187=)
|
|
|
|
NM_139058.3(ARX):c.579C>T (p.Gly193=)
|
|
|
|
NM_139058.3(ARX):c.594C>T (p.Val198=)
|
|
|
|
NM_139058.3(ARX):c.597G>A (p.Thr199=)
|
rs398124515
|
|
|
NM_139058.3(ARX):c.597G>T (p.Thr199=)
|
|
|
|
NM_139058.3(ARX):c.615C>T (p.Leu205=)
|
|
|
|
NM_139058.3(ARX):c.618C>T (p.Gly206=)
|
|
|
|
NM_139058.3(ARX):c.625G>A (p.Gly209Ser)
|
rs587783203
|
|
|
NM_139058.3(ARX):c.633G>A (p.Pro211=)
|
|
|
|
NM_139058.3(ARX):c.636C>T (p.Gly212=)
|
|
|
|
NM_139058.3(ARX):c.645G>C (p.Pro215=)
|
|
|
|
NM_139058.3(ARX):c.663C>G (p.Thr221=)
|
rs1006404746
|
|
|
NM_139058.3(ARX):c.664G>C (p.Gly222Arg)
|
rs1183516776
|
|
|
NM_139058.3(ARX):c.669C>A (p.Thr223=)
|
rs1473823603
|
|
|
NM_139058.3(ARX):c.669C>G (p.Thr223=)
|
|
|
|
NM_139058.3(ARX):c.669C>T (p.Thr223=)
|
|
|
|
NM_139058.3(ARX):c.675C>T (p.Asp225=)
|
|
|
|
NM_139058.3(ARX):c.681G>A (p.Glu227=)
|
|
|
|
NM_139058.3(ARX):c.690G>T (p.Leu230=)
|
|
|
|
NM_139058.3(ARX):c.711G>A (p.Glu237=)
|
|
|
|
NM_139058.3(ARX):c.714C>T (p.Asp238=)
|
|
|
|
NM_139058.3(ARX):c.717G>A (p.Glu239=)
|
|
|
|
NM_139058.3(ARX):c.729G>A (p.Leu243=)
|
|
|
|
NM_139058.3(ARX):c.747G>A (p.Glu249=)
|
rs797045305
|
|
|
NM_139058.3(ARX):c.756G>C (p.Leu252=)
|
|
|
|
NM_139058.3(ARX):c.762C>T (p.Asp254=)
|
|
|
|
NM_139058.3(ARX):c.765C>T (p.Asp255=)
|
|
|
|
NM_139058.3(ARX):c.774G>C (p.Ala258=)
|
|
|
|
NM_139058.3(ARX):c.780C>T (p.Leu260=)
|
|
|
|
NM_139058.3(ARX):c.790C>A (p.Arg264=)
|
|
|
|
NM_139058.3(ARX):c.810C>T (p.Ala270=)
|
|
|
|
NM_139058.3(ARX):c.813T>C (p.Thr271=)
|
|
|
|
NM_139058.3(ARX):c.816C>T (p.Gly272=)
|
|
|
|
NM_139058.3(ARX):c.822G>A (p.Val274=)
|
|
|
|
NM_139058.3(ARX):c.825C>A (p.Ala275=)
|
|
|
|
NM_139058.3(ARX):c.831A>G (p.Ala277=)
|
|
|
|
NM_139058.3(ARX):c.858C>T (p.Gly286=)
|
|
|
|
NM_139058.3(ARX):c.865C>T (p.Leu289=)
|
|
|
|
NM_139058.3(ARX):c.921C>T (p.Gly307=)
|
rs398124519
|
|
|
NM_139058.3(ARX):c.924G>A (p.Glu308=)
|
|
|
|
NM_139058.3(ARX):c.927C>T (p.Asp309=)
|
|
|
|
NM_139058.3(ARX):c.930C>T (p.Ser310=)
|
rs1569395305
|
|
|
NM_139058.3(ARX):c.936C>T (p.Cys312=)
|
|
|
|
NM_139058.3(ARX):c.945G>A (p.Ala315=)
|
rs1310022652
|
|
|
NM_139058.3(ARX):c.948C>T (p.Gly316=)
|
|
|
|
NM_139058.3(ARX):c.951C>T (p.Ser317=)
|
rs2048708727
|
|
|
NM_139058.3(ARX):c.993C>T (p.Tyr331=)
|
|
|
|
NM_139318.5(KCNH5):c.1012C>T (p.Leu338=)
|
rs2140130633
|
|
|
NM_139318.5(KCNH5):c.1023C>T (p.Tyr341=)
|
|
|
|
NM_139318.5(KCNH5):c.1050G>A (p.Val350=)
|
|
|
|
NM_139318.5(KCNH5):c.1054C>T (p.Leu352=)
|
|
|
|
NM_139318.5(KCNH5):c.1063G>A (p.Val355Met)
|
rs2140130579
|
|
|
NM_139318.5(KCNH5):c.1071A>G (p.Gly357=)
|
|
|
|
NM_139318.5(KCNH5):c.1120G>A (p.Glu374Lys)
|
rs1889977806
|
|
|
NM_139318.5(KCNH5):c.1125C>A (p.Val375=)
|
|
|
|
NM_139318.5(KCNH5):c.1176G>T (p.Leu392=)
|
|
|
|
NM_139318.5(KCNH5):c.1197A>G (p.Pro399=)
|
|
|
|
NM_139318.5(KCNH5):c.123T>G (p.Val41=)
|
rs2139607682
|
|
|
NM_139318.5(KCNH5):c.1254G>A (p.Leu418=)
|
|
|
|
NM_139318.5(KCNH5):c.1269C>T (p.Leu423=)
|
|
|
|
NM_139318.5(KCNH5):c.1323C>T (p.Thr441=)
|
|
|
|
NM_139318.5(KCNH5):c.1332G>A (p.Val444=)
|
|
|
|
NM_139318.5(KCNH5):c.135C>T (p.Asp45=)
|
rs561005019
|
|
|
NM_139318.5(KCNH5):c.1369+12A>C
|
|
|
|
NM_139318.5(KCNH5):c.1369+14T>G
|
|
|
|
NM_139318.5(KCNH5):c.1372C>T (p.Leu458Phe)
|
rs2140045681
|
|
|
NM_139318.5(KCNH5):c.1395A>G (p.Gly465=)
|
rs201996055
|
|
|
NM_139318.5(KCNH5):c.1438C>T (p.Arg480Ter)
|
rs748140384
|
|
|
NM_139318.5(KCNH5):c.1449G>A (p.Glu483=)
|
rs2140045589
|
|
|
NM_139318.5(KCNH5):c.1461T>C (p.Asn487=)
|
rs1268998047
|
|
|
NM_139318.5(KCNH5):c.1473C>T (p.Phe491=)
|
|
|
|
NM_139318.5(KCNH5):c.1491C>T (p.Val497=)
|
|
|
|
NM_139318.5(KCNH5):c.1497A>G (p.Lys499=)
|
rs2140045523
|
|
|
NM_139318.5(KCNH5):c.1499G>A (p.Gly500Asp)
|
rs1566681333
|
|
|
NM_139318.5(KCNH5):c.1569+16_1569+24del
|
rs2140045429
|
|
|
NM_139318.5(KCNH5):c.1569+7G>C
|
|
|
|
NM_139318.5(KCNH5):c.156A>G (p.Gly52=)
|
|
|
|
NM_139318.5(KCNH5):c.1570-11A>G
|
|
|
|
NM_139318.5(KCNH5):c.1570-12C>T
|
|
|
|
NM_139318.5(KCNH5):c.1570-16C>G
|
|
|
|
NM_139318.5(KCNH5):c.1570-9C>T
|
|
|
|
NM_139318.5(KCNH5):c.1671G>A (p.Gly557=)
|
|
|
|
NM_139318.5(KCNH5):c.1680C>G (p.Arg560=)
|
rs114074278
|
|
|
NM_139318.5(KCNH5):c.1680C>T (p.Arg560=)
|
rs114074278
|
|
|
NM_139318.5(KCNH5):c.1683C>A (p.Ala561=)
|
rs2140000066
|
|
|
NM_139318.5(KCNH5):c.1689G>T (p.Ala563=)
|
rs1197818518
|
|
|
NM_139318.5(KCNH5):c.174C>A (p.Val58=)
|
|
|
|
NM_139318.5(KCNH5):c.174C>T (p.Val58=)
|
rs938893274
|
|
|
NM_139318.5(KCNH5):c.1791C>T (p.Val597=)
|
|
|
|
NM_139318.5(KCNH5):c.1819T>C (p.Leu607=)
|
|
|
|
NM_139318.5(KCNH5):c.1822+11C>G
|
rs2139999911
|
|
|
NM_139318.5(KCNH5):c.1822+14T>C
|
rs776080155
|
|
|
NM_139318.5(KCNH5):c.1823-11C>A
|
|
|
|
NM_139318.5(KCNH5):c.1823-15T>C
|
|
|
|
NM_139318.5(KCNH5):c.1823-17C>G
|
|
|
|
NM_139318.5(KCNH5):c.1823-18T>A
|
|
|
|
NM_139318.5(KCNH5):c.1866C>G (p.Thr622=)
|
|
|
|
NM_139318.5(KCNH5):c.1869T>A (p.Leu623=)
|
|
|
|
NM_139318.5(KCNH5):c.1875T>C (p.His625=)
|
|
|
|
NM_139318.5(KCNH5):c.1878A>G (p.Ala626=)
|
rs1886172630
|
|
|
NM_139318.5(KCNH5):c.1893G>C (p.Arg631=)
|
|
|
|
NM_139318.5(KCNH5):c.1926G>T (p.Lys642Asn)
|
rs2139975486
|
|
|
NM_139318.5(KCNH5):c.1929G>A (p.Arg643=)
|
|
|
|
NM_139318.5(KCNH5):c.1959T>C (p.Tyr653=)
|
|
|
|
NM_139318.5(KCNH5):c.197+7A>T
|
|
|
|
NM_139318.5(KCNH5):c.198-11T>C
|
|
|
|
NM_139318.5(KCNH5):c.198-12T>C
|
|
|
|
NM_139318.5(KCNH5):c.198-14T>C
|
|
|
|
NM_139318.5(KCNH5):c.198-15T>C
|
|
|
|
NM_139318.5(KCNH5):c.198-17T>G
|
|
|
|
NM_139318.5(KCNH5):c.198-18_198-15del
|
rs758368839
|
|
|
NM_139318.5(KCNH5):c.198-3C>A
|
rs2139597547
|
|
|
NM_139318.5(KCNH5):c.198-3del
|
rs752865520
|
|
|
NM_139318.5(KCNH5):c.198-5C>T
|
|
|
|
NM_139318.5(KCNH5):c.198-7C>G
|
|
|
|
NM_139318.5(KCNH5):c.198-9C>T
|
|
|
|
NM_139318.5(KCNH5):c.1983A>T (p.Ser661=)
|
rs1470600869
|
|
|
NM_139318.5(KCNH5):c.2001T>C (p.Thr667=)
|
|
|
|
NM_139318.5(KCNH5):c.2001T>G (p.Thr667=)
|
|
|
|
NM_139318.5(KCNH5):c.2019+13G>T
|
|
|
|
NM_139318.5(KCNH5):c.2019+15T>C
|
|
|
|
NM_139318.5(KCNH5):c.2019+7T>C
|
|
|
|
NM_139318.5(KCNH5):c.2020-15T>C
|
rs1276632605
|
|
|
NM_139318.5(KCNH5):c.2020-18A>C
|
rs748404574
|
|
|
NM_139318.5(KCNH5):c.2020-18A>G
|
rs748404574
|
|
|
NM_139318.5(KCNH5):c.2020-6C>T
|
|
|
|
NM_139318.5(KCNH5):c.2020-9G>A
|
|
|
|
NM_139318.5(KCNH5):c.2022C>T (p.Ile674=)
|
|
|
|
NM_139318.5(KCNH5):c.2040T>C (p.Ser680=)
|
|
|
|
NM_139318.5(KCNH5):c.2079G>A (p.Lys693=)
|
rs1217652797
|
|
|
NM_139318.5(KCNH5):c.2085G>A (p.Glu695=)
|
|
|
|
NM_139318.5(KCNH5):c.2106G>A (p.Val702=)
|
|
|
|
NM_139318.5(KCNH5):c.210G>A (p.Gly70=)
|
|
|
|
NM_139318.5(KCNH5):c.212A>G (p.Glu71Gly)
|
rs2139597525
|
|
|
NM_139318.5(KCNH5):c.2133G>A (p.Gln711=)
|
|
|
|
NM_139318.5(KCNH5):c.2151G>A (p.Lys717=)
|
|
|
|
NM_139318.5(KCNH5):c.2178G>A (p.Gln726=)
|
rs2139899405
|
|
|
NM_139318.5(KCNH5):c.2179_2181delinsCAC (p.Gly727His)
|
|
|
|
NM_139318.5(KCNH5):c.2181T>A (p.Gly727=)
|
rs750428271
|
|
|
NM_139318.5(KCNH5):c.2214C>T (p.Ser738=)
|
|
|
|
NM_139318.5(KCNH5):c.2217C>G (p.Arg739=)
|
|
|
|
NM_139318.5(KCNH5):c.2280C>A (p.Pro760=)
|
|
|
|
NM_139318.5(KCNH5):c.2280C>T (p.Pro760=)
|
rs1196313969
|
|
|
NM_139318.5(KCNH5):c.22C>T (p.Leu8=)
|
|
|
|
NM_139318.5(KCNH5):c.2365G>T (p.Gly789Cys)
|
rs140205536
|
|
|
NM_139318.5(KCNH5):c.2382T>G (p.Cys794Trp)
|
rs1884478264
|
|
|
NM_139318.5(KCNH5):c.2415T>C (p.Asn805=)
|
|
|
|
NM_139318.5(KCNH5):c.2436G>A (p.Leu812=)
|
rs1884476768
|
|
|
NM_139318.5(KCNH5):c.2445G>A (p.Lys815=)
|
rs1253510688
|
|
|
NM_139318.5(KCNH5):c.244A>C (p.Arg82=)
|
rs1594671813
|
|
|
NM_139318.5(KCNH5):c.2463T>C (p.His821=)
|
|
|
|
NM_139318.5(KCNH5):c.2469G>A (p.Glu823=)
|
rs751823732
|
|
|
NM_139318.5(KCNH5):c.2481C>T (p.Asp827=)
|
|
|
|
NM_139318.5(KCNH5):c.2514G>A (p.Gly838=)
|
|
|
|
NM_139318.5(KCNH5):c.2515C>T (p.Leu839=)
|
rs1555351912
|
|
|
NM_139318.5(KCNH5):c.2517A>G (p.Leu839=)
|
|
|
|
NM_139318.5(KCNH5):c.2529C>T (p.Asp843=)
|
|
|
|
NM_139318.5(KCNH5):c.2628T>C (p.Asp876=)
|
rs951928918
|
|
|
NM_139318.5(KCNH5):c.2637G>A (p.Gly879=)
|
|
|
|
NM_139318.5(KCNH5):c.2644C>T (p.Arg882Ter)
|
rs1451729920
|
|
|
NM_139318.5(KCNH5):c.2661C>T (p.His887=)
|
rs931481107
|
|
|
NM_139318.5(KCNH5):c.2673G>A (p.Gln891=)
|
rs2139898715
|
|
|
NM_139318.5(KCNH5):c.2706C>G (p.Pro902=)
|
rs147205656
|
|
|
NM_139318.5(KCNH5):c.2706C>T (p.Pro902=)
|
rs147205656
|
|
|
NM_139318.5(KCNH5):c.2716T>C (p.Leu906=)
|
rs2139898635
|
|
|
NM_139318.5(KCNH5):c.2748A>G (p.Glu916=)
|
rs1368591415
|
|
|
NM_139318.5(KCNH5):c.2769G>A (p.Leu923=)
|
rs1332018030
|
|
|
NM_139318.5(KCNH5):c.2789C>A (p.Ala930Asp)
|
rs562140660
|
|
|
NM_139318.5(KCNH5):c.2793A>G (p.Leu931=)
|
|
|
|
NM_139318.5(KCNH5):c.2817A>G (p.Leu939=)
|
|
|
|
NM_139318.5(KCNH5):c.282A>G (p.Glu94=)
|
|
|
|
NM_139318.5(KCNH5):c.2847G>A (p.Gln949=)
|
|
|
|
NM_139318.5(KCNH5):c.2859C>T (p.Pro953=)
|
|
|
|
NM_139318.5(KCNH5):c.2889C>A (p.Pro963=)
|
rs148200469
|
|
|
NM_139318.5(KCNH5):c.2889C>G (p.Pro963=)
|
|
|
|
NM_139318.5(KCNH5):c.2889C>T (p.Pro963=)
|
rs148200469
|
|
|
NM_139318.5(KCNH5):c.2890dup (p.Gln964fs)
|
rs35940222
|
|
|
NM_139318.5(KCNH5):c.2913T>C (p.Phe971=)
|
|
|
|
NM_139318.5(KCNH5):c.294C>T (p.Tyr98=)
|
rs1891125928
|
|
|
NM_139318.5(KCNH5):c.304+11C>T
|
|
|
|
NM_139318.5(KCNH5):c.304+13A>G
|
rs1891125114
|
|
|
NM_139318.5(KCNH5):c.304+17_304+19del
|
|
|
|
NM_139318.5(KCNH5):c.304+19A>G
|
|
|
|
NM_139318.5(KCNH5):c.305-14del
|
rs767722355
|
|
|
NM_139318.5(KCNH5):c.306A>G (p.Arg102=)
|
|
|
|
NM_139318.5(KCNH5):c.309C>A (p.Thr103=)
|
|
|
|
NM_139318.5(KCNH5):c.30A>G (p.Ala10=)
|
|
|
|
NM_139318.5(KCNH5):c.315T>A (p.Val105=)
|
|
|
|
NM_139318.5(KCNH5):c.333T>C (p.Ile111=)
|
rs1349107141
|
|
|
NM_139318.5(KCNH5):c.338C>T (p.Pro113Leu)
|
|
|
|
NM_139318.5(KCNH5):c.345A>G (p.Arg115=)
|
|
|
|
NM_139318.5(KCNH5):c.354T>C (p.His118=)
|
rs2139591254
|
|
|
NM_139318.5(KCNH5):c.411A>G (p.Pro137=)
|
|
|
|
NM_139318.5(KCNH5):c.434-12C>A
|
|
|
|
NM_139318.5(KCNH5):c.434-18T>C
|
|
|
|
NM_139318.5(KCNH5):c.434-8T>C
|
|
|
|
NM_139318.5(KCNH5):c.435T>G (p.Gly145=)
|
|
|
|
NM_139318.5(KCNH5):c.451C>T (p.Arg151Ter)
|
rs1425163380
|
|
|
NM_139318.5(KCNH5):c.462G>A (p.Arg154=)
|
rs2139575338
|
|
|
NM_139318.5(KCNH5):c.46T>C (p.Leu16=)
|
|
|
|
NM_139318.5(KCNH5):c.478C>A (p.Arg160=)
|
|
|
|
NM_139318.5(KCNH5):c.519G>A (p.Glu173=)
|
|
|
|
NM_139318.5(KCNH5):c.549+17T>A
|
rs1950975
|
|
|
NM_139318.5(KCNH5):c.549+6T>C
|
rs1321587047
|
|
|
NM_139318.5(KCNH5):c.550-13T>G
|
|
|
|
NM_139318.5(KCNH5):c.550-15T>G
|
|
|
|
NM_139318.5(KCNH5):c.550-17C>T
|
rs1422234778
|
|
|
NM_139318.5(KCNH5):c.550-21_550-18del
|
rs766820445
|
|
|
NM_139318.5(KCNH5):c.550-7C>G
|
rs1321418069
|
|
|
NM_139318.5(KCNH5):c.550-9C>G
|
rs374202650
|
|
|
NM_139318.5(KCNH5):c.550-9C>T
|
|
|
|
NM_139318.5(KCNH5):c.566C>T (p.Ser189Leu)
|
rs1381625125
|
|
|
NM_139318.5(KCNH5):c.597G>A (p.Ala199=)
|
|
|
|
NM_139318.5(KCNH5):c.597G>C (p.Ala199=)
|
|
|
|
NM_139318.5(KCNH5):c.597G>T (p.Ala199=)
|
rs114341754
|
|
|
NM_139318.5(KCNH5):c.630T>C (p.Tyr210=)
|
|
|
|
NM_139318.5(KCNH5):c.636T>A (p.Ala212=)
|
|
|
|
NM_139318.5(KCNH5):c.645T>C (p.Thr215=)
|
|
|
|
NM_139318.5(KCNH5):c.648T>C (p.Thr216=)
|
rs775889528
|
|
|
NM_139318.5(KCNH5):c.660G>A (p.Val220=)
|
|
|
|
NM_139318.5(KCNH5):c.66C>T (p.Arg22=)
|
|
|
|
NM_139318.5(KCNH5):c.676T>G (p.Phe226Val)
|
rs772687794
|
|
|
NM_139318.5(KCNH5):c.678C>T (p.Phe226=)
|
|
|
|
NM_139318.5(KCNH5):c.684C>T (p.Thr228=)
|
|
|
|
NM_139318.5(KCNH5):c.729C>T (p.Asn243=)
|
rs2139568497
|
|
|
NM_139318.5(KCNH5):c.73+16G>A
|
|
|
|
NM_139318.5(KCNH5):c.73+19C>G
|
|
|
|
NM_139318.5(KCNH5):c.74-7T>G
|
|
|
|
NM_139318.5(KCNH5):c.786C>T (p.Ile262=)
|
rs2139568391
|
|
|
NM_139318.5(KCNH5):c.825A>G (p.Gly275=)
|
|
|
|
NM_139318.5(KCNH5):c.885C>T (p.Ile295=)
|
|
|
|
NM_139318.5(KCNH5):c.888T>C (p.Asp296=)
|
|
|
|
NM_139318.5(KCNH5):c.894G>A (p.Leu298=)
|
rs142927077
|
|
|
NM_139318.5(KCNH5):c.942+11C>T
|
|
|
|
NM_139318.5(KCNH5):c.942+12G>A
|
|
|
|
NM_139318.5(KCNH5):c.942+16T>C
|
|
|
|
NM_139318.5(KCNH5):c.943-16T>C
|
rs2140130723
|
|
|
NM_139318.5(KCNH5):c.943-5T>A
|
|
|
|
NM_139318.5(KCNH5):c.975G>T (p.Val325=)
|
rs1451342604
|
|
|
NM_152743.4(BRAT1):c.1015+18G>C
|
rs1281766598
|
|
|
NM_152743.4(BRAT1):c.1015+20C>A
|
|
|
|
NM_152743.4(BRAT1):c.1015+7T>C
|
|
|
|
NM_152743.4(BRAT1):c.1015+9C>T
|
|
|
|
NM_152743.4(BRAT1):c.1016-11T>A
|
rs2128392701
|
|
|
NM_152743.4(BRAT1):c.1016-13G>C
|
|
|
|
NM_152743.4(BRAT1):c.1016-14G>A
|
|
|
|
NM_152743.4(BRAT1):c.1016-14G>C
|
rs1265372231
|
|
|
NM_152743.4(BRAT1):c.1016-14G>T
|
rs1265372231
|
|
|
NM_152743.4(BRAT1):c.1016-16C>T
|
|
|
|
NM_152743.4(BRAT1):c.1016-20C>G
|
|
|
|
NM_152743.4(BRAT1):c.1016-5C>T
|
rs749883517
|
|
|
NM_152743.4(BRAT1):c.1016-9G>C
|
|
|
|
NM_152743.4(BRAT1):c.1059A>G (p.Thr353=)
|
|
|
|
NM_152743.4(BRAT1):c.1080C>T (p.Ser360=)
|
rs2128392426
|
|
|
NM_152743.4(BRAT1):c.1089C>T (p.Gly363=)
|
rs765157437
|
|
|
NM_152743.4(BRAT1):c.1093C>T (p.Leu365=)
|
|
|
|
NM_152743.4(BRAT1):c.1095G>C (p.Leu365=)
|
rs951608747
|
|
|
NM_152743.4(BRAT1):c.1116G>A (p.Leu372=)
|
|
|
|
NM_152743.4(BRAT1):c.1131G>A (p.Pro377=)
|
rs756690297
|
|
|
NM_152743.4(BRAT1):c.1131G>T (p.Pro377=)
|
rs756690297
|
|
|
NM_152743.4(BRAT1):c.1134+15G>A
|
|
|
|
NM_152743.4(BRAT1):c.1134+17C>A
|
|
|
|
NM_152743.4(BRAT1):c.1135-14C>T
|
|
|
|
NM_152743.4(BRAT1):c.1135-17G>A
|
|
|
|
NM_152743.4(BRAT1):c.1135-18C>T
|
|
|
|
NM_152743.4(BRAT1):c.1135-21_1135-15del
|
rs761504288
|
|
|
NM_152743.4(BRAT1):c.1135-7del
|
rs1337771627
|
|
|
NM_152743.4(BRAT1):c.1135-8C>T
|
rs113613637
|
|
|
NM_152743.4(BRAT1):c.1143C>G (p.Arg381=)
|
|
|
|
NM_152743.4(BRAT1):c.114G>A (p.Thr38=)
|
|
|
|
NM_152743.4(BRAT1):c.1170A>C (p.Leu390=)
|
rs1380954665
|
|
|
NM_152743.4(BRAT1):c.1170A>G (p.Leu390=)
|
rs1380954665
|
|
|
NM_152743.4(BRAT1):c.1170A>T (p.Leu390=)
|
rs1380954665
|
|
|
NM_152743.4(BRAT1):c.117C>T (p.Val39=)
|
|
|
|
NM_152743.4(BRAT1):c.1197G>A (p.Arg399=)
|
rs2128391290
|
|
|
NM_152743.4(BRAT1):c.1197G>T (p.Arg399=)
|
|
|
|
NM_152743.4(BRAT1):c.1203T>C (p.Cys401=)
|
rs191610171
|
|
|
NM_152743.4(BRAT1):c.1209C>A (p.Gly403=)
|
rs755915935
|
|
|
NM_152743.4(BRAT1):c.1218C>T (p.Ala406=)
|
rs1248801630
|
|
|
NM_152743.4(BRAT1):c.1224C>T (p.Ala408=)
|
|
|
|
NM_152743.4(BRAT1):c.1230T>C (p.Ser410=)
|
rs1583301772
|
|
|
NM_152743.4(BRAT1):c.1236G>T (p.Gly412=)
|
rs773742306
|
|
|
NM_152743.4(BRAT1):c.1242C>T (p.His414=)
|
rs2128391084
|
|
|
NM_152743.4(BRAT1):c.1251G>T (p.Gly417=)
|
|
|
|
NM_152743.4(BRAT1):c.1257G>C (p.Leu419=)
|
|
|
|
NM_152743.4(BRAT1):c.1260G>A (p.Ala420=)
|
|
|
|
NM_152743.4(BRAT1):c.1263C>G (p.Gly421=)
|
rs568170755
|
|
|
NM_152743.4(BRAT1):c.1266C>T (p.Cys422=)
|
|
|
|
NM_152743.4(BRAT1):c.127+20G>C
|
rs2128415618
|
|
|
NM_152743.4(BRAT1):c.127+9G>A
|
|
|
|
NM_152743.4(BRAT1):c.128-11_128-10inv
|
|
|
|
NM_152743.4(BRAT1):c.128-4A>G
|
|
|
|
NM_152743.4(BRAT1):c.128-4A>T
|
rs1174955076
|
|
|
NM_152743.4(BRAT1):c.128-7C>T
|
|
|
|
NM_152743.4(BRAT1):c.1290C>A (p.Leu430=)
|
|
|
|
NM_152743.4(BRAT1):c.1290C>T (p.Leu430=)
|
rs768272447
|
|
|
NM_152743.4(BRAT1):c.1302G>A (p.Gly434=)
|
|
|
|
NM_152743.4(BRAT1):c.1305G>A (p.Thr435=)
|
rs145506790
|
|
|
NM_152743.4(BRAT1):c.1321+12C>A
|
rs2128390763
|
|
|
NM_152743.4(BRAT1):c.1321+14G>C
|
|
|
|
NM_152743.4(BRAT1):c.1321+7G>A
|
rs2128390782
|
|
|
NM_152743.4(BRAT1):c.1321+8T>A
|
rs2128390776
|
|
|
NM_152743.4(BRAT1):c.1322-18C>T
|
|
|
|
NM_152743.4(BRAT1):c.1322-19C>G
|
|
|
|
NM_152743.4(BRAT1):c.1338G>A (p.Val446=)
|
|
|
|
NM_152743.4(BRAT1):c.1341G>A (p.Thr447=)
|
|
|
|
NM_152743.4(BRAT1):c.1347G>T (p.Ala449=)
|
rs994170901
|
|
|
NM_152743.4(BRAT1):c.1350T>G (p.Leu450=)
|
|
|
|
NM_152743.4(BRAT1):c.1360C>T (p.Leu454=)
|
|
|
|
NM_152743.4(BRAT1):c.1371C>G (p.Leu457=)
|
|
|
|
NM_152743.4(BRAT1):c.1380C>A (p.Pro460=)
|
rs760259005
|
|
|
NM_152743.4(BRAT1):c.1380C>G (p.Pro460=)
|
rs760259005
|
|
|
NM_152743.4(BRAT1):c.1380C>T (p.Pro460=)
|
rs760259005
|
|
|
NM_152743.4(BRAT1):c.1395+15A>C
|
rs1779104025
|
|
|
NM_152743.4(BRAT1):c.1395+17dup
|
|
|
|
NM_152743.4(BRAT1):c.1395+18G>C
|
|
|
|
NM_152743.4(BRAT1):c.1396-12T>A
|
rs1337708310
|
|
|
NM_152743.4(BRAT1):c.1396-13C>G
|
|
|
|
NM_152743.4(BRAT1):c.1396-14C>T
|
|
|
|
NM_152743.4(BRAT1):c.1396-17C>T
|
|
|
|
NM_152743.4(BRAT1):c.1401G>A (p.Leu467=)
|
|
|
|
NM_152743.4(BRAT1):c.1410C>T (p.Ala470=)
|
|
|
|
NM_152743.4(BRAT1):c.1425C>T (p.Leu475=)
|
|
|
|
NM_152743.4(BRAT1):c.1435C>T (p.Leu479=)
|
|
|
|
NM_152743.4(BRAT1):c.1440C>T (p.Ser480=)
|
rs1583296135
|
|
|
NM_152743.4(BRAT1):c.1452C>A (p.Thr484=)
|
|
|
|
NM_152743.4(BRAT1):c.1452C>G (p.Thr484=)
|
|
|
|
NM_152743.4(BRAT1):c.1467T>C (p.Asp489=)
|
|
|
|
NM_152743.4(BRAT1):c.1470C>G (p.Leu490=)
|
|
|
|
NM_152743.4(BRAT1):c.1470C>T (p.Leu490=)
|
rs1193451009
|
|
|
NM_152743.4(BRAT1):c.1488G>A (p.Gln496=)
|
rs2128387243
|
|
|
NM_152743.4(BRAT1):c.1498+10C>G
|
rs765157563
|
|
|
NM_152743.4(BRAT1):c.1498+10C>T
|
|
|
|
NM_152743.4(BRAT1):c.1498+13C>G
|
|
|
|
NM_152743.4(BRAT1):c.1498+20G>T
|
|
|
|
NM_152743.4(BRAT1):c.1498+8A>T
|
|
|
|
NM_152743.4(BRAT1):c.1499-18T>C
|
|
|
|
NM_152743.4(BRAT1):c.1509T>C (p.Pro503=)
|
rs1159646565
|
|
|
NM_152743.4(BRAT1):c.1509T>G (p.Pro503=)
|
|
|
|
NM_152743.4(BRAT1):c.1515G>A (p.Leu505=)
|
|
|
|
NM_152743.4(BRAT1):c.1527G>T (p.Leu509=)
|
rs763100774
|
|
|
NM_152743.4(BRAT1):c.1554C>T (p.Asp518=)
|
|
|
|
NM_152743.4(BRAT1):c.1560C>T (p.Ala520=)
|
|
|
|
NM_152743.4(BRAT1):c.1563C>A (p.Leu521=)
|
rs747583240
|
|
|
NM_152743.4(BRAT1):c.1563C>G (p.Leu521=)
|
rs747583240
|
|
|
NM_152743.4(BRAT1):c.1578G>A (p.Gln526=)
|
|
|
|
NM_152743.4(BRAT1):c.1584C>T (p.Ser528=)
|
|
|
|
NM_152743.4(BRAT1):c.1597+20G>A
|
rs1486046903
|
|
|
NM_152743.4(BRAT1):c.1597+9T>G
|
rs1778978436
|
|
|
NM_152743.4(BRAT1):c.1598-11T>A
|
|
|
|
NM_152743.4(BRAT1):c.1598-5C>T
|
|
|
|
NM_152743.4(BRAT1):c.1598-8A>C
|
rs918975333
|
|
|
NM_152743.4(BRAT1):c.1598-9G>A
|
rs754104895
|
|
|
NM_152743.4(BRAT1):c.1598-9G>T
|
rs754104895
|
|
|
NM_152743.4(BRAT1):c.15C>T (p.Cys5=)
|
rs1485274454
|
|
|
NM_152743.4(BRAT1):c.1617C>T (p.Cys539=)
|
rs773927497
|
|
|
NM_152743.4(BRAT1):c.1623C>T (p.Leu541=)
|
|
|
|
NM_152743.4(BRAT1):c.1650C>G (p.Ala550=)
|
rs1778954470
|
|
|
NM_152743.4(BRAT1):c.1651C>T (p.Leu551=)
|
|
|
|
NM_152743.4(BRAT1):c.166G>C (p.Val56Leu)
|
rs148548421
|
|
|
NM_152743.4(BRAT1):c.1714C>T (p.Leu572=)
|
rs2128386002
|
|
|
NM_152743.4(BRAT1):c.1729C>T (p.Leu577=)
|
|
|
|
NM_152743.4(BRAT1):c.172C>T (p.Leu58=)
|
|
|
|
NM_152743.4(BRAT1):c.1740C>A (p.Pro580=)
|
rs200084998
|
|
|
NM_152743.4(BRAT1):c.1758A>C (p.Ala586=)
|
|
|
|
NM_152743.4(BRAT1):c.1764C>T (p.Ala588=)
|
|
|
|
NM_152743.4(BRAT1):c.1770+16T>C
|
rs2128385812
|
|
|
NM_152743.4(BRAT1):c.1770+7G>C
|
rs1778940017
|
|
|
NM_152743.4(BRAT1):c.1770+8del
|
|
|
|
NM_152743.4(BRAT1):c.1771-15C>T
|
|
|
|
NM_152743.4(BRAT1):c.1771-7C>T
|
rs903491648
|
|
|
NM_152743.4(BRAT1):c.1776G>A (p.Leu592=)
|
rs2128384961
|
|
|
NM_152743.4(BRAT1):c.1806A>G (p.Val602=)
|
rs1778896115
|
|
|
NM_152743.4(BRAT1):c.180C>T (p.Ser60=)
|
|
|
|
NM_152743.4(BRAT1):c.1812G>A (p.Ser604=)
|
|
|
|
NM_152743.4(BRAT1):c.1812G>C (p.Ser604=)
|
|
|
|
NM_152743.4(BRAT1):c.1812G>T (p.Ser604=)
|
|
|
|
NM_152743.4(BRAT1):c.1866C>T (p.Asp622=)
|
rs371142628
|
|
|
NM_152743.4(BRAT1):c.1884C>G (p.Ala628=)
|
rs142346283
|
|
|
NM_152743.4(BRAT1):c.1890C>T (p.Asp630=)
|
rs1778884450
|
|
|
NM_152743.4(BRAT1):c.189G>A (p.Leu63=)
|
rs2128403568
|
|
|
NM_152743.4(BRAT1):c.1908C>T (p.Ala636=)
|
|
|
|
NM_152743.4(BRAT1):c.1911T>G (p.Thr637=)
|
rs1016199390
|
|
|
NM_152743.4(BRAT1):c.1930C>A (p.Arg644=)
|
rs754828716
|
|
|
NM_152743.4(BRAT1):c.1950C>T (p.Val650=)
|
|
|
|
NM_152743.4(BRAT1):c.1962C>T (p.Gly654=)
|
|
|
|
NM_152743.4(BRAT1):c.1963C>T (p.Leu655=)
|
|
|
|
NM_152743.4(BRAT1):c.1965G>A (p.Leu655=)
|
rs2128384276
|
|
|
NM_152743.4(BRAT1):c.1971G>A (p.Leu657=)
|
|
|
|
NM_152743.4(BRAT1):c.2019C>T (p.Cys673=)
|
|
|
|
NM_152743.4(BRAT1):c.2040C>T (p.Pro680=)
|
rs1018617325
|
|
|
NM_152743.4(BRAT1):c.2046G>A (p.Val682=)
|
|
|
|
NM_152743.4(BRAT1):c.2049C>T (p.Ala683=)
|
|
|
|
NM_152743.4(BRAT1):c.204G>A (p.Leu68=)
|
|
|
|
NM_152743.4(BRAT1):c.2052A>C (p.Pro684=)
|
|
|
|
NM_152743.4(BRAT1):c.2061A>G (p.Pro687=)
|
|
|
|
NM_152743.4(BRAT1):c.2076G>A (p.Leu692=)
|
rs779251772
|
|
|
NM_152743.4(BRAT1):c.2082T>G (p.Ala694=)
|
|
|
|
NM_152743.4(BRAT1):c.2091C>T (p.His697=)
|
|
|
|
NM_152743.4(BRAT1):c.2109C>T (p.Phe703=)
|
rs745775567
|
|
|
NM_152743.4(BRAT1):c.2121C>G (p.Ala707=)
|
|
|
|
NM_152743.4(BRAT1):c.2154G>A (p.Lys718=)
|
rs1199417146
|
|
|
NM_152743.4(BRAT1):c.2160T>C (p.Cys720=)
|
rs2128383648
|
|
|
NM_152743.4(BRAT1):c.2163C>T (p.Asp721=)
|
rs1778852305
|
|
|
NM_152743.4(BRAT1):c.2169T>C (p.Leu723=)
|
rs150300694
|
|
|
NM_152743.4(BRAT1):c.216C>A (p.Val72=)
|
|
|
|
NM_152743.4(BRAT1):c.2181G>A (p.Arg727=)
|
rs1778850370
|
|
|
NM_152743.4(BRAT1):c.219C>T (p.Leu73=)
|
rs2128403527
|
|
|
NM_152743.4(BRAT1):c.2208G>C (p.Leu736=)
|
|
|
|
NM_152743.4(BRAT1):c.2211G>A (p.Arg737=)
|
|
|
|
NM_152743.4(BRAT1):c.2235T>C (p.Thr745=)
|
|
|
|
NM_152743.4(BRAT1):c.2241C>G (p.Ser747=)
|
rs757972461
|
|
|
NM_152743.4(BRAT1):c.2256G>A (p.Leu752=)
|
|
|
|
NM_152743.4(BRAT1):c.2262G>A (p.Arg754=)
|
|
|
|
NM_152743.4(BRAT1):c.2271G>A (p.Ala757=)
|
rs554560289
|
|
|
NM_152743.4(BRAT1):c.22C>T (p.Leu8=)
|
|
|
|
NM_152743.4(BRAT1):c.2301G>A (p.Gln767=)
|
|
|
|
NM_152743.4(BRAT1):c.2304G>A (p.Glu768=)
|
|
|
|
NM_152743.4(BRAT1):c.2313T>C (p.Ala771=)
|
rs2128383116
|
|
|
NM_152743.4(BRAT1):c.2334C>A (p.Ser778=)
|
|
|
|
NM_152743.4(BRAT1):c.2337A>G (p.Leu779=)
|
rs1013387094
|
|
|
NM_152743.4(BRAT1):c.2340C>T (p.Asp780=)
|
|
|
|
NM_152743.4(BRAT1):c.2349C>G (p.Gly783=)
|
|
|
|
NM_152743.4(BRAT1):c.2370G>A (p.Glu790=)
|
rs759592506
|
|
|
NM_152743.4(BRAT1):c.2406C>T (p.Leu802=)
|
|
|
|
NM_152743.4(BRAT1):c.2409G>A (p.Leu803=)
|
|
|
|
NM_152743.4(BRAT1):c.2415C>T (p.Asp805=)
|
rs2128382706
|
|
|
NM_152743.4(BRAT1):c.2427G>A (p.Thr809=)
|
rs760489828
|
|
|
NM_152743.4(BRAT1):c.2427G>C (p.Thr809=)
|
rs760489828
|
|
|
NM_152743.4(BRAT1):c.249C>T (p.Phe83=)
|
rs1339437631
|
|
|
NM_152743.4(BRAT1):c.27C>G (p.Leu9=)
|
|
|
|
NM_152743.4(BRAT1):c.282+10G>A
|
|
|
|
NM_152743.4(BRAT1):c.282+11G>A
|
|
|
|
NM_152743.4(BRAT1):c.282+12G>T
|
|
|
|
NM_152743.4(BRAT1):c.282+13C>T
|
|
|
|
NM_152743.4(BRAT1):c.283-14T>C
|
|
|
|
NM_152743.4(BRAT1):c.283-16dup
|
rs759971408
|
|
|
NM_152743.4(BRAT1):c.283-17_283-15del
|
rs2128399836
|
|
|
NM_152743.4(BRAT1):c.283-18T>A
|
rs2128399848
|
|
|
NM_152743.4(BRAT1):c.283-20C>T
|
rs2128399853
|
|
|
NM_152743.4(BRAT1):c.283-4_283-3dup
|
|
|
|
NM_152743.4(BRAT1):c.283-8C>T
|
rs2128399826
|
|
|
NM_152743.4(BRAT1):c.288G>A (p.Gly96=)
|
rs2128399806
|
|
|
NM_152743.4(BRAT1):c.295C>T (p.Leu99=)
|
|
|
|
NM_152743.4(BRAT1):c.303G>A (p.Gly101=)
|
rs769412372
|
|
|
NM_152743.4(BRAT1):c.306C>T (p.Leu102=)
|
|
|
|
NM_152743.4(BRAT1):c.327C>T (p.Leu109=)
|
rs1438980293
|
|
|
NM_152743.4(BRAT1):c.33T>C (p.Ala11=)
|
rs2128415791
|
|
|
NM_152743.4(BRAT1):c.363C>T (p.Ser121=)
|
rs1411961897
|
|
|
NM_152743.4(BRAT1):c.384C>A (p.Arg128=)
|
|
|
|
NM_152743.4(BRAT1):c.384C>G (p.Arg128=)
|
|
|
|
NM_152743.4(BRAT1):c.409C>T (p.Leu137=)
|
rs940045155
|
|
|
NM_152743.4(BRAT1):c.420G>A (p.Leu140=)
|
|
|
|
NM_152743.4(BRAT1):c.430+12C>T
|
|
|
|
NM_152743.4(BRAT1):c.430+8C>T
|
rs1415558196
|
|
|
NM_152743.4(BRAT1):c.431-10_431-8del
|
rs2128397590
|
|
|
NM_152743.4(BRAT1):c.431-5C>T
|
|
|
|
NM_152743.4(BRAT1):c.447C>T (p.Ile149=)
|
|
|
|
NM_152743.4(BRAT1):c.456G>A (p.Leu152=)
|
|
|
|
NM_152743.4(BRAT1):c.456G>T (p.Leu152=)
|
rs1554296085
|
|
|
NM_152743.4(BRAT1):c.471C>T (p.Ser157=)
|
|
|
|
NM_152743.4(BRAT1):c.489G>T (p.Ala163=)
|
rs533766344
|
|
|
NM_152743.4(BRAT1):c.507G>A (p.Val169=)
|
rs1554296053
|
|
|
NM_152743.4(BRAT1):c.510C>T (p.His170=)
|
|
|
|
NM_152743.4(BRAT1):c.511G>C (p.Val171Leu)
|
rs769663853
|
|
|
NM_152743.4(BRAT1):c.529C>A (p.Arg177=)
|
rs1238539931
|
|
|
NM_152743.4(BRAT1):c.534T>C (p.Gly178=)
|
|
|
|
NM_152743.4(BRAT1):c.612G>A (p.Glu204=)
|
|
|
|
NM_152743.4(BRAT1):c.627G>A (p.Ala209=)
|
rs533344105
|
|
|
NM_152743.4(BRAT1):c.627G>T (p.Ala209=)
|
rs533344105
|
|
|
NM_152743.4(BRAT1):c.642C>T (p.Val214=)
|
|
|
|
NM_152743.4(BRAT1):c.645T>C (p.Thr215=)
|
|
|
|
NM_152743.4(BRAT1):c.654G>C (p.Leu218=)
|
rs147160709
|
|
|
NM_152743.4(BRAT1):c.672C>T (p.Thr224=)
|
rs373177343
|
|
|
NM_152743.4(BRAT1):c.681C>A (p.Arg227=)
|
rs2128396712
|
|
|
NM_152743.4(BRAT1):c.706C>T (p.Leu236=)
|
|
|
|
NM_152743.4(BRAT1):c.729C>G (p.Arg243=)
|
|
|
|
NM_152743.4(BRAT1):c.729C>T (p.Arg243=)
|
rs770100854
|
|
|
NM_152743.4(BRAT1):c.750A>G (p.Arg250=)
|
|
|
|
NM_152743.4(BRAT1):c.753C>T (p.Asp251=)
|
|
|
|
NM_152743.4(BRAT1):c.768A>G (p.Ala256=)
|
|
|
|
NM_152743.4(BRAT1):c.784C>T (p.Leu262=)
|
|
|
|
NM_152743.4(BRAT1):c.78C>T (p.Asp26=)
|
|
|
|
NM_152743.4(BRAT1):c.798G>T (p.Val266=)
|
|
|
|
NM_152743.4(BRAT1):c.803+10C>G
|
|
|
|
NM_152743.4(BRAT1):c.803+18C>T
|
rs1345217816
|
|
|
NM_152743.4(BRAT1):c.803+20G>C
|
|
|
|
NM_152743.4(BRAT1):c.803+7G>A
|
|
|
|
NM_152743.4(BRAT1):c.804-13G>C
|
|
|
|
NM_152743.4(BRAT1):c.804-16T>C
|
|
|
|
NM_152743.4(BRAT1):c.804-17C>A
|
rs201793719
|
|
|
NM_152743.4(BRAT1):c.804-4G>A
|
|
|
|
NM_152743.4(BRAT1):c.804-4G>C
|
|
|
|
NM_152743.4(BRAT1):c.804-5T>C
|
rs1438687712
|
|
|
NM_152743.4(BRAT1):c.810C>T (p.Pro270=)
|
|
|
|
NM_152743.4(BRAT1):c.822T>G (p.Ser274=)
|
rs371711348
|
|
|
NM_152743.4(BRAT1):c.834C>T (p.Ser278=)
|
|
|
|
NM_152743.4(BRAT1):c.837G>T (p.Leu279=)
|
|
|
|
NM_152743.4(BRAT1):c.846A>C (p.Thr282=)
|
rs1779323527
|
|
|
NM_152743.4(BRAT1):c.852G>T (p.Ala284=)
|
rs767671540
|
|
|
NM_152743.4(BRAT1):c.858T>C (p.Ala286=)
|
|
|
|
NM_152743.4(BRAT1):c.87G>A (p.Leu29=)
|
|
|
|
NM_152743.4(BRAT1):c.894G>A (p.Leu298=)
|
|
|
|
NM_152743.4(BRAT1):c.898T>C (p.Leu300=)
|
|
|
|
NM_152743.4(BRAT1):c.903G>A (p.Gly301=)
|
|
|
|
NM_152743.4(BRAT1):c.912G>A (p.Lys304=)
|
|
|
|
NM_152743.4(BRAT1):c.915C>T (p.Leu305=)
|
|
|
|
NM_152743.4(BRAT1):c.924-15C>T
|
|
|
|
NM_152743.4(BRAT1):c.924-38_924-13del
|
rs765341216
|
|
|
NM_152743.4(BRAT1):c.939G>A (p.Arg313=)
|
|
|
|
NM_152743.4(BRAT1):c.954G>A (p.Gln318=)
|
rs2128393601
|
|
|
NM_152743.4(BRAT1):c.963C>T (p.Leu321=)
|
|
|
|
NM_152743.4(BRAT1):c.969C>A (p.Pro323=)
|
|
|
|
NM_152743.4(BRAT1):c.972G>A (p.Leu324=)
|
|
|
|
NM_152743.4(BRAT1):c.987G>A (p.Lys329=)
|
rs761475079
|
|
|
NM_152743.4(BRAT1):c.990C>T (p.Ala330=)
|
rs1188693535
|
|
|
NM_172107.4(KCNQ2):c.1020C>T (p.Ile340=)
|
|
|
|
NM_172107.4(KCNQ2):c.1023+12T>C
|
|
|
|
NM_172107.4(KCNQ2):c.1023+15C>A
|
|
|
|
NM_172107.4(KCNQ2):c.1023+15C>T
|
|
|
|
NM_172107.4(KCNQ2):c.1023+17C>G
|
rs1057522826
|
|
|
NM_172107.4(KCNQ2):c.1023+7C>T
|
|
|
|
NM_172107.4(KCNQ2):c.1024-10C>T
|
|
|
|
NM_172107.4(KCNQ2):c.1024-14C>T
|
rs562506366
|
|
|
NM_172107.4(KCNQ2):c.1024-16_1024-12del
|
|
|
|
NM_172107.4(KCNQ2):c.1024-32_1024-19dup
|
|
|
|
NM_172107.4(KCNQ2):c.1024-6C>G
|
rs796052608
|
|
|
NM_172107.4(KCNQ2):c.1024-8C>T
|
|
|
|
NM_172107.4(KCNQ2):c.1053C>T (p.Leu351=)
|
rs1030017847
|
|
|
NM_172107.4(KCNQ2):c.105C>G (p.Thr35=)
|
|
|
|
NM_172107.4(KCNQ2):c.105C>T (p.Thr35=)
|
rs2082237874
|
|
|
NM_172107.4(KCNQ2):c.1068G>A (p.Leu356=)
|
|
|
|
NM_172107.4(KCNQ2):c.1107G>A (p.Val369=)
|
|
|
|
NM_172107.4(KCNQ2):c.1118+11C>T
|
rs138176417
|
|
|
NM_172107.4(KCNQ2):c.1118+18C>T
|
rs2080900462
|
|
|
NM_172107.4(KCNQ2):c.1118+9G>A
|
|
|
|
NM_172107.4(KCNQ2):c.1119-14G>A
|
|
|
|
NM_172107.4(KCNQ2):c.1119-4A>G
|
rs749744963
|
|
|
NM_172107.4(KCNQ2):c.111C>T (p.Asp37=)
|
|
|
|
NM_172107.4(KCNQ2):c.1143C>T (p.Ala381=)
|
|
|
|
NM_172107.4(KCNQ2):c.1148+10G>A
|
rs2145654994
|
|
|
NM_172107.4(KCNQ2):c.1148+12A>G
|
|
|
|
NM_172107.4(KCNQ2):c.1148+13T>C
|
|
|
|
NM_172107.4(KCNQ2):c.1148+16A>G
|
|
|
|
NM_172107.4(KCNQ2):c.1148+17C>T
|
|
|
|
NM_172107.4(KCNQ2):c.1149-16C>T
|
|
|
|
NM_172107.4(KCNQ2):c.1149-19_1149-18delinsAA
|
rs2145637769
|
|
|
NM_172107.4(KCNQ2):c.1149-5C>T
|
rs2145637691
|
|
|
NM_172107.4(KCNQ2):c.1149-8T>C
|
rs1459803620
|
|
|
NM_172107.4(KCNQ2):c.117G>A (p.Ala39=)
|
|
|
|
NM_172107.4(KCNQ2):c.1188C>T (p.Asn396=)
|
rs2080694966
|
|
|
NM_172107.4(KCNQ2):c.1209C>G (p.Leu403=)
|
rs752280961
|
|
|
NM_172107.4(KCNQ2):c.1217+16C>G
|
rs2145636880
|
|
|
NM_172107.4(KCNQ2):c.1217+19G>C
|
|
|
|
NM_172107.4(KCNQ2):c.1218-12dup
|
rs761233540
|
|
|
NM_172107.4(KCNQ2):c.1218-14G>A
|
|
|
|
NM_172107.4(KCNQ2):c.1224C>T (p.Asp408=)
|
rs1060503977
|
|
|
NM_172107.4(KCNQ2):c.1239G>C (p.Pro413=)
|
|
|
|
NM_172107.4(KCNQ2):c.123G>C (p.Leu41=)
|
rs1600886191
|
|
|
NM_172107.4(KCNQ2):c.1242T>G (p.Ser414=)
|
|
|
|
NM_172107.4(KCNQ2):c.1247+14G>C
|
|
|
|
NM_172107.4(KCNQ2):c.1247+14G>T
|
|
|
|
NM_172107.4(KCNQ2):c.1247+7G>A
|
|
|
|
NM_172107.4(KCNQ2):c.1248-10T>C
|
|
|
|
NM_172107.4(KCNQ2):c.1248-10T>G
|
rs1049810851
|
|
|
NM_172107.4(KCNQ2):c.1248-11_1248-9del
|
|
|
|
NM_172107.4(KCNQ2):c.1248-18_1248-17del
|
rs2080407380
|
|
|
NM_172107.4(KCNQ2):c.1248-19G>A
|
|
|
|
NM_172107.4(KCNQ2):c.1248-4C>T
|
rs772465626
|
|
|
NM_172107.4(KCNQ2):c.1257C>T (p.Ser419=)
|
|
|
|
NM_172107.4(KCNQ2):c.126C>A (p.Ile42=)
|
rs1555881817
|
|
|
NM_172107.4(KCNQ2):c.1281A>C (p.Gly427=)
|
|
|
|
NM_172107.4(KCNQ2):c.1287C>T (p.Cys429=)
|
rs1457499206
|
|
|
NM_172107.4(KCNQ2):c.1301+12C>A
|
|
|
|
NM_172107.4(KCNQ2):c.1301+14C>T
|
|
|
|
NM_172107.4(KCNQ2):c.1301+17C>A
|
|
|
|
NM_172107.4(KCNQ2):c.1301+17C>T
|
rs371259819
|
|
|
NM_172107.4(KCNQ2):c.1301+18G>A
|
|
|
|
NM_172107.4(KCNQ2):c.1301+7C>A
|
|
|
|
NM_172107.4(KCNQ2):c.1301+8G>A
|
rs532111320
|
|
|
NM_172107.4(KCNQ2):c.1301+8G>C
|
rs532111320
|
|
|
NM_172107.4(KCNQ2):c.1301+8G>T
|
rs532111320
|
|
|
NM_172107.4(KCNQ2):c.1302-12C>T
|
|
|
|
NM_172107.4(KCNQ2):c.1302-13C>A
|
|
|
|
NM_172107.4(KCNQ2):c.1302-15_1302-14insGTCTGTCA
|
rs2080248150
|
|
|
NM_172107.4(KCNQ2):c.1302-17G>T
|
rs79184652
|
|
|
NM_172107.4(KCNQ2):c.1302-18_1302-17insTCTGTCTC
|
rs1555854853
|
|
|
NM_172107.4(KCNQ2):c.1302-18_1302-17insTGTCTGTG
|
|
|
|
NM_172107.4(KCNQ2):c.1308G>A (p.Lys436=)
|
rs1008990254
|
|
|
NM_172107.4(KCNQ2):c.132C>T (p.Gly44=)
|
|
|
|
NM_172107.4(KCNQ2):c.1335C>T (p.Ser445=)
|
rs1316650494
|
|
|
NM_172107.4(KCNQ2):c.1342C>A (p.Arg448=)
|
|
|
|
NM_172107.4(KCNQ2):c.1365G>A (p.Lys455=)
|
rs267606052
|
|
|
NM_172107.4(KCNQ2):c.1404C>T (p.Ser468=)
|
|
|
|
NM_172107.4(KCNQ2):c.1437G>A (p.Lys479=)
|
rs2080240279
|
|
|
NM_172107.4(KCNQ2):c.1446G>A (p.Lys482=)
|
|
|
|
NM_172107.4(KCNQ2):c.144C>T (p.Pro48=)
|
rs1600886044
|
|
|
NM_172107.4(KCNQ2):c.1467C>T (p.Arg489=)
|
rs767486470
|
|
|
NM_172107.4(KCNQ2):c.1470C>T (p.Ser490=)
|
|
|
|
NM_172107.4(KCNQ2):c.1494C>A (p.Ile498=)
|
rs2145555496
|
|
|
NM_172107.4(KCNQ2):c.1503C>T (p.Ala501=)
|
rs1801545
|
|
|
NM_172107.4(KCNQ2):c.1525+13G>A
|
|
|
|
NM_172107.4(KCNQ2):c.1525+14C>T
|
|
|
|
NM_172107.4(KCNQ2):c.1525+7del
|
rs2080236526
|
|
|
NM_172107.4(KCNQ2):c.1526-12C>T
|
|
|
|
NM_172107.4(KCNQ2):c.1526-16G>A
|
|
|
|
NM_172107.4(KCNQ2):c.1526-18C>A
|
|
|
|
NM_172107.4(KCNQ2):c.1526-18C>T
|
|
|
|
NM_172107.4(KCNQ2):c.1526-4C>A
|
rs1396502704
|
|
|
NM_172107.4(KCNQ2):c.1526-6C>A
|
rs763503121
|
|
|
NM_172107.4(KCNQ2):c.1526-7C>A
|
rs761567082
|
|
|
NM_172107.4(KCNQ2):c.1536C>A (p.Leu512=)
|
rs1244500696
|
|
|
NM_172107.4(KCNQ2):c.1542A>G (p.Gly514=)
|
|
|
|
NM_172107.4(KCNQ2):c.1545G>T (p.Glu515Asp)
|
rs117067974
|
|
|
NM_172107.4(KCNQ2):c.1578G>A (p.Glu526=)
|
|
|
|
NM_172107.4(KCNQ2):c.1593C>T (p.Asp531=)
|
rs1601569482
|
|
|
NM_172107.4(KCNQ2):c.1626C>G (p.Ala542=)
|
rs564614151
|
|
|
NM_172107.4(KCNQ2):c.162C>T (p.Leu54=)
|
rs2145921651
|
|
|
NM_172107.4(KCNQ2):c.1631+12G>A
|
|
|
|
NM_172107.4(KCNQ2):c.1631+20G>A
|
|
|
|
NM_172107.4(KCNQ2):c.1632-10C>T
|
|
|
|
NM_172107.4(KCNQ2):c.1632-12A>C
|
|
|
|
NM_172107.4(KCNQ2):c.1632-12dup
|
rs745393879
|
|
|
NM_172107.4(KCNQ2):c.1632-13C>T
|
|
|
|
NM_172107.4(KCNQ2):c.1632-15C>A
|
|
|
|
NM_172107.4(KCNQ2):c.1632-4G>A
|
rs750925697
|
|
|
NM_172107.4(KCNQ2):c.1632-5T>G
|
|
|
|
NM_172107.4(KCNQ2):c.1632-6del
|
|
|
|
NM_172107.4(KCNQ2):c.1632-7C>G
|
|
|
|
NM_172107.4(KCNQ2):c.1662G>A (p.Lys554=)
|
|
|
|
NM_172107.4(KCNQ2):c.1665C>T (p.Phe555=)
|
rs372800424
|
|
|
NM_172107.4(KCNQ2):c.1674C>T (p.Ser558=)
|
rs2145542186
|
|
|
NM_172107.4(KCNQ2):c.1686C>T (p.Tyr562=)
|
|
|
|
NM_172107.4(KCNQ2):c.1725C>T (p.His575=)
|
rs2080187230
|
|
|
NM_172107.4(KCNQ2):c.1735C>T (p.Leu579=)
|
|
|
|
NM_172107.4(KCNQ2):c.1753C>T (p.Leu585=)
|
|
|
|
NM_172107.4(KCNQ2):c.1763+11C>T
|
|
|
|
NM_172107.4(KCNQ2):c.1763+12G>A
|
|
|
|
NM_172107.4(KCNQ2):c.1763+12G>T
|
|
|
|
NM_172107.4(KCNQ2):c.1763+14C>G
|
rs767673819
|
|
|
NM_172107.4(KCNQ2):c.1763+16G>T
|
|
|
|
NM_172107.4(KCNQ2):c.1763+17C>A
|
rs548507063
|
|
|
NM_172107.4(KCNQ2):c.1764-11G>C
|
|
|
|
NM_172107.4(KCNQ2):c.1764-18G>A
|
rs2145497913
|
|
|
NM_172107.4(KCNQ2):c.1764-18G>T
|
|
|
|
NM_172107.4(KCNQ2):c.1764-20G>A
|
|
|
|
NM_172107.4(KCNQ2):c.1782G>A (p.Gly594=)
|
|
|
|
NM_172107.4(KCNQ2):c.1794G>A (p.Ala598=)
|
rs779158152
|
|
|
NM_172107.4(KCNQ2):c.1794G>T (p.Ala598=)
|
rs779158152
|
|
|
NM_172107.4(KCNQ2):c.1800G>C (p.Thr600=)
|
rs587780368
|
|
|
NM_172107.4(KCNQ2):c.1806G>A (p.Lys602=)
|
rs2145497393
|
|
|
NM_172107.4(KCNQ2):c.1812C>T (p.Arg604=)
|
rs2145497312
|
|
|
NM_172107.4(KCNQ2):c.1815C>G (p.Thr605=)
|
|
|
|
NM_172107.4(KCNQ2):c.1821C>T (p.Gly607=)
|
|
|
|
NM_172107.4(KCNQ2):c.1824G>A (p.Pro608=)
|
|
|
|
NM_172107.4(KCNQ2):c.1827C>G (p.Ala609=)
|
|
|
|
NM_172107.4(KCNQ2):c.1866G>A (p.Arg622=)
|
|
|
|
NM_172107.4(KCNQ2):c.1866G>C (p.Arg622=)
|
rs1060503976
|
|
|
NM_172107.4(KCNQ2):c.1869C>A (p.Leu623=)
|
|
|
|
NM_172107.4(KCNQ2):c.1869C>T (p.Leu623=)
|
rs774516728
|
|
|
NM_172107.4(KCNQ2):c.186G>A (p.Ala62=)
|
|
|
|
NM_172107.4(KCNQ2):c.1887+10G>A
|
rs1422499897
|
|
|
NM_172107.4(KCNQ2):c.1887+10G>T
|
rs1422499897
|
|
|
NM_172107.4(KCNQ2):c.1887+15G>A
|
rs769833989
|
|
|
NM_172107.4(KCNQ2):c.1887+16C>A
|
rs369329706
|
|
|
NM_172107.4(KCNQ2):c.1887+16C>T
|
rs369329706
|
|
|
NM_172107.4(KCNQ2):c.1887+18G>A
|
rs750270667
|
|
|
NM_172107.4(KCNQ2):c.1887+9G>A
|
rs1292936188
|
|
|
NM_172107.4(KCNQ2):c.1888-16G>A
|
|
|
|
NM_172107.4(KCNQ2):c.18C>T (p.Arg6=)
|
|
|
|
NM_172107.4(KCNQ2):c.1902G>A (p.Glu634=)
|
|
|
|
NM_172107.4(KCNQ2):c.1923G>A (p.Val641=)
|
rs2145489065
|
|
|
NM_172107.4(KCNQ2):c.192C>T (p.Ala64=)
|
|
|
|
NM_172107.4(KCNQ2):c.1950C>T (p.Ile650=)
|
rs772067813
|
|
|
NM_172107.4(KCNQ2):c.1953C>A (p.Pro651=)
|
rs2145488702
|
|
|
NM_172107.4(KCNQ2):c.195G>A (p.Gly65=)
|
|
|
|
NM_172107.4(KCNQ2):c.195G>C (p.Gly65=)
|
|
|
|
NM_172107.4(KCNQ2):c.1965C>T (p.Thr655=)
|
|
|
|
NM_172107.4(KCNQ2):c.1998G>T (p.Pro666=)
|
rs777059029
|
|
|
NM_172107.4(KCNQ2):c.201C>T (p.Pro67=)
|
|
|
|
NM_172107.4(KCNQ2):c.2025C>T (p.Asp675=)
|
|
|
|
NM_172107.4(KCNQ2):c.2029C>A (p.Arg677=)
|
|
|
|
NM_172107.4(KCNQ2):c.2037T>C (p.His679=)
|
rs1162099839
|
|
|
NM_172107.4(KCNQ2):c.204C>G (p.Pro68=)
|
rs750320231
|
|
|
NM_172107.4(KCNQ2):c.2061C>T (p.Val687=)
|
rs543412828
|
|
|
NM_172107.4(KCNQ2):c.2064G>A (p.Lys688=)
|
rs1266457198
|
|
|
NM_172107.4(KCNQ2):c.2067C>A (p.Ile689=)
|
|
|
|
NM_172107.4(KCNQ2):c.2100C>T (p.Asn700=)
|
|
|
|
NM_172107.4(KCNQ2):c.2121G>A (p.Ala707=)
|
rs1269199299
|
|
|
NM_172107.4(KCNQ2):c.2124C>G (p.Pro708=)
|
|
|
|
NM_172107.4(KCNQ2):c.2157G>A (p.Gln719=)
|
|
|
|
NM_172107.4(KCNQ2):c.2181C>T (p.Gly727=)
|
rs1025748805
|
|
|
NM_172107.4(KCNQ2):c.2226C>T (p.Ile742=)
|
|
|
|
NM_172107.4(KCNQ2):c.2229G>T (p.Pro743=)
|
rs1481212168
|
|
|
NM_172107.4(KCNQ2):c.2232G>T (p.Pro744=)
|
|
|
|
NM_172107.4(KCNQ2):c.2241C>G (p.Ala747=)
|
|
|
|
NM_172107.4(KCNQ2):c.2244C>T (p.His748=)
|
rs376327268
|
|
|
NM_172107.4(KCNQ2):c.2247G>A (p.Glu749=)
|
|
|
|
NM_172107.4(KCNQ2):c.2268C>T (p.Gly756=)
|
|
|
|
NM_172107.4(KCNQ2):c.2271G>A (p.Gly757=)
|
|
|
|
NM_172107.4(KCNQ2):c.2274C>T (p.Gly758=)
|
rs1028898942
|
|
|
NM_172107.4(KCNQ2):c.2295C>T (p.Phe765=)
|
|
|
|
NM_172107.4(KCNQ2):c.229C>T (p.Leu77=)
|
|
|
|
NM_172107.4(KCNQ2):c.2313C>G (p.Thr771=)
|
rs1402873637
|
|
|
NM_172107.4(KCNQ2):c.2322C>T (p.Cys774=)
|
|
|
|
NM_172107.4(KCNQ2):c.2328C>T (p.Pro776=)
|
rs1601542678
|
|
|
NM_172107.4(KCNQ2):c.2346G>A (p.Arg782=)
|
rs1297956699
|
|
|
NM_172107.4(KCNQ2):c.2361C>T (p.Ser787=)
|
|
|
|
NM_172107.4(KCNQ2):c.2370C>T (p.Ile790=)
|
rs762324514
|
|
|
NM_172107.4(KCNQ2):c.2388G>A (p.Glu796=)
|
|
|
|
NM_172107.4(KCNQ2):c.2400T>C (p.Arg800=)
|
rs2079953374
|
|
|
NM_172107.4(KCNQ2):c.2403C>G (p.Ser801=)
|
|
|
|
NM_172107.4(KCNQ2):c.2424C>T (p.Ser808=)
|
rs2145483351
|
|
|
NM_172107.4(KCNQ2):c.2433G>A (p.Lys811=)
|
|
|
|
NM_172107.4(KCNQ2):c.243C>G (p.Leu81=)
|
rs2145921188
|
|
|
NM_172107.4(KCNQ2):c.2440C>T (p.Leu814=)
|
|
|
|
NM_172107.4(KCNQ2):c.2475G>A (p.Ala825=)
|
rs1479290036
|
|
|
NM_172107.4(KCNQ2):c.2490C>G (p.Val830=)
|
rs761275840
|
|
|
NM_172107.4(KCNQ2):c.2493G>A (p.Arg831=)
|
rs2145482676
|
|
|
NM_172107.4(KCNQ2):c.2505G>A (p.Ala835=)
|
rs764615246
|
|
|
NM_172107.4(KCNQ2):c.2505G>C (p.Ala835=)
|
rs764615246
|
|
|
NM_172107.4(KCNQ2):c.2547C>T (p.Cys849=)
|
|
|
|
NM_172107.4(KCNQ2):c.255G>C (p.Leu85=)
|
rs2145921111
|
|
|
NM_172107.4(KCNQ2):c.2577G>A (p.Glu859=)
|
rs1601541438
|
|
|
NM_172107.4(KCNQ2):c.2583C>G (p.Pro861=)
|
|
|
|
NM_172107.4(KCNQ2):c.258G>A (p.Glu86=)
|
|
|
|
NM_172107.4(KCNQ2):c.2607G>C (p.Gly869=)
|
|
|
|
NM_172107.4(KCNQ2):c.27C>T (p.Gly9=)
|
rs368031411
|
|
|
NM_172107.4(KCNQ2):c.288C>T (p.His96=)
|
rs370799364
|
|
|
NM_172107.4(KCNQ2):c.296+11G>A
|
|
|
|
NM_172107.4(KCNQ2):c.296+15G>C
|
|
|
|
NM_172107.4(KCNQ2):c.296+20C>T
|
|
|
|
NM_172107.4(KCNQ2):c.297-10C>T
|
|
|
|
NM_172107.4(KCNQ2):c.297-13T>A
|
|
|
|
NM_172107.4(KCNQ2):c.297-15G>A
|
rs775049542
|
|
|
NM_172107.4(KCNQ2):c.297-16C>A
|
|
|
|
NM_172107.4(KCNQ2):c.297-17G>A
|
|
|
|
NM_172107.4(KCNQ2):c.297-17G>C
|
rs375745899
|
|
|
NM_172107.4(KCNQ2):c.297-20C>T
|
|
|
|
NM_172107.4(KCNQ2):c.297-6C>T
|
|
|
|
NM_172107.4(KCNQ2):c.303C>T (p.Leu101=)
|
rs145415996
|
|
|
NM_172107.4(KCNQ2):c.306G>C (p.Leu102=)
|
rs1188736335
|
|
|
NM_172107.4(KCNQ2):c.309T>C (p.Val103=)
|
rs1600796985
|
|
|
NM_172107.4(KCNQ2):c.312C>T (p.Phe104=)
|
|
|
|
NM_172107.4(KCNQ2):c.339C>T (p.Ser113=)
|
|
|
|
NM_172107.4(KCNQ2):c.345C>T (p.Ile115=)
|
|
|
|
NM_172107.4(KCNQ2):c.351G>A (p.Glu117=)
|
|
|
|
NM_172107.4(KCNQ2):c.366G>A (p.Ser122=)
|
|
|
|
NM_172107.4(KCNQ2):c.36C>G (p.Pro12=)
|
|
|
|
NM_172107.4(KCNQ2):c.36C>T (p.Pro12=)
|
|
|
|
NM_172107.4(KCNQ2):c.372G>A (p.Gly124=)
|
|
|
|
NM_172107.4(KCNQ2):c.375C>T (p.Ala125=)
|
rs1568944870
|
|
|
NM_172107.4(KCNQ2):c.378C>T (p.Leu126=)
|
|
|
|
NM_172107.4(KCNQ2):c.381C>T (p.Tyr127=)
|
|
|
|
NM_172107.4(KCNQ2):c.387+19C>T
|
|
|
|
NM_172107.4(KCNQ2):c.387+9C>G
|
|
|
|
NM_172107.4(KCNQ2):c.388-6C>T
|
rs1271943231
|
|
|
NM_172107.4(KCNQ2):c.388-8C>T
|
|
|
|
NM_172107.4(KCNQ2):c.388-9C>G
|
rs371784719
|
|
|
NM_172107.4(KCNQ2):c.388-9C>T
|
rs371784719
|
|
|
NM_172107.4(KCNQ2):c.393C>T (p.Ile131=)
|
|
|
|
NM_172107.4(KCNQ2):c.39C>T (p.Gly13=)
|
|
|
|
NM_172107.4(KCNQ2):c.42G>C (p.Pro14=)
|
|
|
|
NM_172107.4(KCNQ2):c.444A>C (p.Ala148=)
|
|
|
|
NM_172107.4(KCNQ2):c.447C>G (p.Gly149=)
|
|
|
|
NM_172107.4(KCNQ2):c.450C>T (p.Cys150=)
|
|
|
|
NM_172107.4(KCNQ2):c.45C>T (p.Ser15=)
|
|
|
|
NM_172107.4(KCNQ2):c.477G>A (p.Gly159=)
|
|
|
|
NM_172107.4(KCNQ2):c.483C>T (p.Leu161=)
|
rs2145778932
|
|
|
NM_172107.4(KCNQ2):c.48G>T (p.Gly16=)
|
rs1411370333
|
|
|
NM_172107.4(KCNQ2):c.510G>T (p.Val170=)
|
|
|
|
NM_172107.4(KCNQ2):c.514+17G>T
|
|
|
|
NM_172107.4(KCNQ2):c.514+8C>G
|
|
|
|
NM_172107.4(KCNQ2):c.514+9T>C
|
rs767715045
|
|
|
NM_172107.4(KCNQ2):c.515-10C>T
|
|
|
|
NM_172107.4(KCNQ2):c.515-11C>T
|
|
|
|
NM_172107.4(KCNQ2):c.515-18T>C
|
|
|
|
NM_172107.4(KCNQ2):c.515-19C>T
|
|
|
|
NM_172107.4(KCNQ2):c.515-29_515-19del
|
rs2145776444
|
|
|
NM_172107.4(KCNQ2):c.515-4G>C
|
rs1600786663
|
|
|
NM_172107.4(KCNQ2):c.515-8C>G
|
|
|
|
NM_172107.4(KCNQ2):c.537C>T (p.Ser179=)
|
|
|
|
NM_172107.4(KCNQ2):c.555C>T (p.Ala185=)
|
rs182946332
|
|
|
NM_172107.4(KCNQ2):c.558C>G (p.Gly186=)
|
|
|
|
NM_172107.4(KCNQ2):c.57G>A (p.Lys19=)
|
|
|
|
NM_172107.4(KCNQ2):c.598C>T (p.Leu200=)
|
rs2145775549
|
|
|
NM_172107.4(KCNQ2):c.603C>A (p.Arg201=)
|
rs1057524529
|
|
|
NM_172107.4(KCNQ2):c.630C>A (p.Arg210=)
|
rs1256399477
|
|
|
NM_172107.4(KCNQ2):c.660G>T (p.Leu220=)
|
|
|
|
NM_172107.4(KCNQ2):c.690+10G>A
|
|
|
|
NM_172107.4(KCNQ2):c.690+19G>T
|
rs1340686189
|
|
|
NM_172107.4(KCNQ2):c.690+7C>T
|
rs917571411
|
|
|
NM_172107.4(KCNQ2):c.690+9C>G
|
rs369881492
|
|
|
NM_172107.4(KCNQ2):c.690+9C>T
|
rs369881492
|
|
|
NM_172107.4(KCNQ2):c.691-5C>G
|
|
|
|
NM_172107.4(KCNQ2):c.691-7C>T
|
|
|
|
NM_172107.4(KCNQ2):c.696G>A (p.Leu232=)
|
|
|
|
NM_172107.4(KCNQ2):c.696G>C (p.Leu232=)
|
rs2145736763
|
|
|
NM_172107.4(KCNQ2):c.699C>T (p.Val233=)
|
rs2145736709
|
|
|
NM_172107.4(KCNQ2):c.714C>A (p.Ile238=)
|
rs147882199
|
|
|
NM_172107.4(KCNQ2):c.723T>G (p.Leu241=)
|
rs777739401
|
|
|
NM_172107.4(KCNQ2):c.733C>T (p.Leu245=)
|
|
|
|
NM_172107.4(KCNQ2):c.738C>T (p.Ala246=)
|
rs2145736209
|
|
|
NM_172107.4(KCNQ2):c.750G>A (p.Val250=)
|
|
|
|
NM_172107.4(KCNQ2):c.771G>A (p.Glu257=)
|
|
|
|
NM_172107.4(KCNQ2):c.798T>C (p.Asp266=)
|
|
|
|
NM_172107.4(KCNQ2):c.813C>T (p.Gly271=)
|
rs1600766224
|
|
|
NM_172107.4(KCNQ2):c.816+20G>A
|
rs1178908886
|
|
|
NM_172107.4(KCNQ2):c.817-12G>T
|
rs2081104441
|
|
|
NM_172107.4(KCNQ2):c.817-17A>G
|
|
|
|
NM_172107.4(KCNQ2):c.817-18G>A
|
rs1430967332
|
|
|
NM_172107.4(KCNQ2):c.822G>T (p.Thr274=)
|
|
|
|
NM_172107.4(KCNQ2):c.825G>A (p.Leu275=)
|
|
|
|
NM_172107.4(KCNQ2):c.837C>G (p.Gly279=)
|
|
|
|
NM_172107.4(KCNQ2):c.849G>A (p.Lys283=)
|
rs1055291761
|
|
|
NM_172107.4(KCNQ2):c.852C>T (p.Tyr284=)
|
|
|
|
NM_172107.4(KCNQ2):c.858G>A (p.Gln286=)
|
rs867502020
|
|
|
NM_172107.4(KCNQ2):c.870C>T (p.Gly290=)
|
rs2145719067
|
|
|
NM_172107.4(KCNQ2):c.876C>T (p.Leu292=)
|
rs2081100018
|
|
|
NM_172107.4(KCNQ2):c.882G>A (p.Ala294=)
|
|
|
|
NM_172107.4(KCNQ2):c.894C>T (p.Thr298=)
|
rs2145718768
|
|
|
NM_172107.4(KCNQ2):c.897C>G (p.Leu299=)
|
|
|
|
NM_172107.4(KCNQ2):c.927+10G>A
|
|
|
|
NM_172107.4(KCNQ2):c.927+11C>T
|
|
|
|
NM_172107.4(KCNQ2):c.927+18del
|
|
|
|
NM_172107.4(KCNQ2):c.952C>T (p.Leu318=)
|
|
|
|
NM_172107.4(KCNQ2):c.966G>A (p.Glu322=)
|
rs2145712522
|
|
|
NM_172107.4(KCNQ2):c.96C>T (p.Pro32=)
|
rs2145921995
|
|
|
NM_172107.4(KCNQ2):c.975G>A (p.Arg325=)
|
|
|
|
NM_172107.4(KCNQ2):c.996G>A (p.Arg332=)
|
rs2145712244
|
|
|
NM_172107.4(KCNQ2):c.9G>A (p.Gln3=)
|
|
|
|
NM_173354.5(SIK1):c.1050T>C (p.Asn350=)
|
rs766069194
|
|
|
NM_173354.5(SIK1):c.1086G>A (p.Pro362=)
|
rs139979941
|
|
|
NM_173354.5(SIK1):c.1089G>A (p.Arg363=)
|
|
|
|
NM_173354.5(SIK1):c.1095G>A (p.Arg365=)
|
|
|
|
NM_173354.5(SIK1):c.1101G>A (p.Ser367=)
|
rs751045541
|
|
|
NM_173354.5(SIK1):c.1119+11G>A
|
|
|
|
NM_173354.5(SIK1):c.1119+13A>C
|
rs2146471945
|
|
|
NM_173354.5(SIK1):c.1119+14G>A
|
rs1194217813
|
|
|
NM_173354.5(SIK1):c.1119+19C>T
|
|
|
|
NM_173354.5(SIK1):c.1119+20T>A
|
|
|
|
NM_173354.5(SIK1):c.1119+5_1119+6dup
|
rs750333204
|
|
|
NM_173354.5(SIK1):c.1120-15G>A
|
|
|
|
NM_173354.5(SIK1):c.1120-4C>G
|
rs761968823
|
|
|
NM_173354.5(SIK1):c.1144G>A (p.Asp382Asn)
|
rs770570987
|
|
|
NM_173354.5(SIK1):c.1149T>C (p.Pro383=)
|
|
|
|
NM_173354.5(SIK1):c.1155A>C (p.Arg385=)
|
rs2081047729
|
|
|
NM_173354.5(SIK1):c.1179G>A (p.Pro393=)
|
rs142768400
|
|
|
NM_173354.5(SIK1):c.1179G>T (p.Pro393=)
|
rs142768400
|
|
|
NM_173354.5(SIK1):c.117G>C (p.Ala39=)
|
rs1555891652
|
|
|
NM_173354.5(SIK1):c.1191G>C (p.Val397=)
|
rs1054134213
|
|
|
NM_173354.5(SIK1):c.1209C>T (p.Ala403=)
|
|
|
|
NM_173354.5(SIK1):c.1230G>A (p.Gln410=)
|
|
|
|
NM_173354.5(SIK1):c.123G>A (p.Val41=)
|
rs2146476379
|
|
|
NM_173354.5(SIK1):c.1245+16G>T
|
|
|
|
NM_173354.5(SIK1):c.1245+19T>A
|
rs2146471245
|
|
|
NM_173354.5(SIK1):c.1245+20G>A
|
|
|
|
NM_173354.5(SIK1):c.1246-10T>G
|
|
|
|
NM_173354.5(SIK1):c.1246-15G>A
|
|
|
|
NM_173354.5(SIK1):c.1246-17G>C
|
rs753969379
|
|
|
NM_173354.5(SIK1):c.1246-17G>T
|
|
|
|
NM_173354.5(SIK1):c.1246-9C>G
|
|
|
|
NM_173354.5(SIK1):c.1260G>C (p.Pro420=)
|
rs776487308
|
|
|
NM_173354.5(SIK1):c.1275C>T (p.Cys425=)
|
rs1297686739
|
|
|
NM_173354.5(SIK1):c.1300G>A (p.Val434Met)
|
rs111780079
|
|
|
NM_173354.5(SIK1):c.1300G>C (p.Val434Leu)
|
rs111780079
|
|
|
NM_173354.5(SIK1):c.1302G>T (p.Val434=)
|
|
|
|
NM_173354.5(SIK1):c.1338G>A (p.Glu446=)
|
rs1601508239
|
|
|
NM_173354.5(SIK1):c.1353G>A (p.Gly451=)
|
rs2146470893
|
|
|
NM_173354.5(SIK1):c.1362A>G (p.Leu454=)
|
|
|
|
NM_173354.5(SIK1):c.1368G>A (p.Glu456=)
|
rs1555891099
|
|
|
NM_173354.5(SIK1):c.1371G>A (p.Glu457=)
|
|
|
|
NM_173354.5(SIK1):c.1398C>T (p.Ser466=)
|
|
|
|
NM_173354.5(SIK1):c.1400_1401delinsTT (p.Ser467Ile)
|
rs2146470803
|
|
|
NM_173354.5(SIK1):c.1410G>C (p.Arg470=)
|
rs1032796020
|
|
|
NM_173354.5(SIK1):c.1413G>A (p.Arg471=)
|
rs2146470778
|
|
|
NM_173354.5(SIK1):c.1419C>T (p.Thr473=)
|
rs1320930912
|
|
|
NM_173354.5(SIK1):c.1424C>T (p.Ala475Val)
|
rs1163668338
|
|
|
NM_173354.5(SIK1):c.1425C>G (p.Ala475=)
|
|
|
|
NM_173354.5(SIK1):c.1425C>T (p.Ala475=)
|
|
|
|
NM_173354.5(SIK1):c.1434C>T (p.Ser478=)
|
rs2146470699
|
|
|
NM_173354.5(SIK1):c.1449A>G (p.Pro483=)
|
|
|
|
NM_173354.5(SIK1):c.1449A>T (p.Pro483=)
|
rs1251367400
|
|
|
NM_173354.5(SIK1):c.1462+12C>G
|
|
|
|
NM_173354.5(SIK1):c.1462+12C>T
|
|
|
|
NM_173354.5(SIK1):c.1462+18C>T
|
rs1038464471
|
|
|
NM_173354.5(SIK1):c.1462+19C>T
|
rs2146470601
|
|
|
NM_173354.5(SIK1):c.1462+20C>G
|
rs2146470598
|
|
|
NM_173354.5(SIK1):c.1462+9C>A
|
rs1324778844
|
|
|
NM_173354.5(SIK1):c.1462T>G (p.Cys488Gly)
|
rs2081044642
|
|
|
NM_173354.5(SIK1):c.1463-10C>A
|
|
|
|
NM_173354.5(SIK1):c.1463-10C>T
|
rs75613088
|
|
|
NM_173354.5(SIK1):c.1463-15G>A
|
rs377350792
|
|
|
NM_173354.5(SIK1):c.1463-15G>C
|
rs377350792
|
|
|
NM_173354.5(SIK1):c.1463-27_1463-19dup
|
rs755251328
|
|
|
NM_173354.5(SIK1):c.1463-5C>A
|
rs375664122
|
|
|
NM_173354.5(SIK1):c.1463-5C>G
|
rs375664122
|
|
|
NM_173354.5(SIK1):c.1463-5C>T
|
rs375664122
|
|
|
NM_173354.5(SIK1):c.1463-6C>A
|
rs148529513
|
|
|
NM_173354.5(SIK1):c.1463-6C>G
|
rs148529513
|
|
|
NM_173354.5(SIK1):c.1463-6C>T
|
rs148529513
|
|
|
NM_173354.5(SIK1):c.1463-7C>G
|
rs142866662
|
|
|
NM_173354.5(SIK1):c.1463-8C>T
|
rs2146470344
|
|
|
NM_173354.5(SIK1):c.1463G>A (p.Cys488Tyr)
|
rs769962713
|
|
|
NM_173354.5(SIK1):c.1471G>C (p.Val491Leu)
|
rs140222760
|
|
|
NM_173354.5(SIK1):c.1475C>T (p.Ser492Phe)
|
rs2081043276
|
|
|
NM_173354.5(SIK1):c.1479C>G (p.Pro493=)
|
rs778877054
|
|
|
NM_173354.5(SIK1):c.1482C>T (p.Ser494=)
|
rs1555891046
|
|
|
NM_173354.5(SIK1):c.1515T>C (p.Ser505=)
|
rs753009708
|
|
|
NM_173354.5(SIK1):c.1530C>G (p.Thr510=)
|
rs759750280
|
|
|
NM_173354.5(SIK1):c.1538C>T (p.Ala513Val)
|
rs200402559
|
|
|
NM_173354.5(SIK1):c.1552G>A (p.Ala518Thr)
|
rs367547841
|
|
|
NM_173354.5(SIK1):c.1552G>C (p.Ala518Pro)
|
rs367547841
|
|
|
NM_173354.5(SIK1):c.1554G>A (p.Ala518=)
|
rs34487963
|
|
|
NM_173354.5(SIK1):c.156+10G>A
|
rs1601511858
|
|
|
NM_173354.5(SIK1):c.156+13G>A
|
rs1193250951
|
|
|
NM_173354.5(SIK1):c.156+20C>T
|
|
|
|
NM_173354.5(SIK1):c.156+7G>A
|
|
|
|
NM_173354.5(SIK1):c.1563T>C (p.Ser521=)
|
rs2146470093
|
|
|
NM_173354.5(SIK1):c.157-10A>G
|
rs1237472803
|
|
|
NM_173354.5(SIK1):c.157-20T>A
|
|
|
|
NM_173354.5(SIK1):c.157-5del
|
|
|
|
NM_173354.5(SIK1):c.157-9_157-8dup
|
rs753580895
|
|
|
NM_173354.5(SIK1):c.1572G>A (p.Pro524=)
|
|
|
|
NM_173354.5(SIK1):c.1581G>A (p.Gln527=)
|
rs1187631793
|
|
|
NM_173354.5(SIK1):c.1587G>A (p.Leu529=)
|
rs1460477463
|
|
|
NM_173354.5(SIK1):c.15G>C (p.Ser5=)
|
|
|
|
NM_173354.5(SIK1):c.1601C>T (p.Ser534Phe)
|
rs34704670
|
|
|
NM_173354.5(SIK1):c.1605G>T (p.Pro535=)
|
rs113434279
|
|
|
NM_173354.5(SIK1):c.1635G>A (p.Ser545=)
|
rs113076434
|
|
|
NM_173354.5(SIK1):c.1635G>T (p.Ser545=)
|
rs113076434
|
|
|
NM_173354.5(SIK1):c.1668G>T (p.Gly556=)
|
|
|
|
NM_173354.5(SIK1):c.1692C>T (p.Leu564=)
|
|
|
|
NM_173354.5(SIK1):c.1695T>C (p.Pro565=)
|
|
|
|
NM_173354.5(SIK1):c.1744+10G>C
|
|
|
|
NM_173354.5(SIK1):c.1761G>A (p.Arg587=)
|
|
|
|
NM_173354.5(SIK1):c.1770G>A (p.Leu590=)
|
rs1601507060
|
|
|
NM_173354.5(SIK1):c.1788C>T (p.Thr596=)
|
|
|
|
NM_173354.5(SIK1):c.1830C>T (p.Arg610=)
|
rs1043309128
|
|
|
NM_173354.5(SIK1):c.1869C>A (p.Gly623=)
|
|
|
|
NM_173354.5(SIK1):c.1869C>T (p.Gly623=)
|
rs369496134
|
|
|
NM_173354.5(SIK1):c.1908C>T (p.Gly636=)
|
|
|
|
NM_173354.5(SIK1):c.1909C>T (p.Leu637=)
|
|
|
|
NM_173354.5(SIK1):c.1911G>A (p.Leu637=)
|
rs2081037813
|
|
|
NM_173354.5(SIK1):c.1914C>T (p.His638=)
|
rs781091892
|
|
|
NM_173354.5(SIK1):c.1923A>G (p.Ala641=)
|
|
|
|
NM_173354.5(SIK1):c.1962G>A (p.Val654=)
|
|
|
|
NM_173354.5(SIK1):c.1976+11C>T
|
|
|
|
NM_173354.5(SIK1):c.1976+12C>G
|
|
|
|
NM_173354.5(SIK1):c.1976+13C>T
|
|
|
|
NM_173354.5(SIK1):c.1976+15C>A
|
|
|
|
NM_173354.5(SIK1):c.1976+15C>G
|
|
|
|
NM_173354.5(SIK1):c.1976+15C>T
|
rs200878902
|
|
|
NM_173354.5(SIK1):c.1976+16G>A
|
|
|
|
NM_173354.5(SIK1):c.1976+19C>T
|
|
|
|
NM_173354.5(SIK1):c.1976+6dup
|
|
|
|
NM_173354.5(SIK1):c.1976+8C>T
|
rs2146468560
|
|
|
NM_173354.5(SIK1):c.1977-13T>C
|
|
|
|
NM_173354.5(SIK1):c.1977-14C>T
|
rs1009274600
|
|
|
NM_173354.5(SIK1):c.1977-14del
|
rs2146468167
|
|
|
NM_173354.5(SIK1):c.1977-16T>G
|
|
|
|
NM_173354.5(SIK1):c.198C>T (p.Ser66=)
|
|
|
|
NM_173354.5(SIK1):c.1992G>A (p.Gln664=)
|
rs1268323259
|
|
|
NM_173354.5(SIK1):c.2001G>A (p.Pro667=)
|
rs778549988
|
|
|
NM_173354.5(SIK1):c.2004C>T (p.Ala668=)
|
rs1434599598
|
|
|
NM_173354.5(SIK1):c.2013C>A (p.Pro671=)
|
rs757730365
|
|
|
NM_173354.5(SIK1):c.2013C>G (p.Pro671=)
|
rs757730365
|
|
|
NM_173354.5(SIK1):c.2016C>G (p.Gly672=)
|
|
|
|
NM_173354.5(SIK1):c.2037G>A (p.Pro679=)
|
rs943521135
|
|
|
NM_173354.5(SIK1):c.204G>A (p.Leu68=)
|
rs144182369
|
|
|
NM_173354.5(SIK1):c.2052T>C (p.Phe684=)
|
rs929370860
|
|
|
NM_173354.5(SIK1):c.2058C>T (p.Ile686=)
|
rs1434388095
|
|
|
NM_173354.5(SIK1):c.2073C>A (p.Gly691=)
|
rs2146467907
|
|
|
NM_173354.5(SIK1):c.2086C>T (p.Pro696Ser)
|
rs778637849
|
|
|
NM_173354.5(SIK1):c.2093C>T (p.Pro698Leu)
|
rs757755073
|
|
|
NM_173354.5(SIK1):c.2112G>C (p.Ser704=)
|
rs773124142
|
|
|
NM_173354.5(SIK1):c.2115G>A (p.Gly705=)
|
|
|
|
NM_173354.5(SIK1):c.2118C>T (p.Leu706=)
|
rs550744437
|
|
|
NM_173354.5(SIK1):c.211dup (p.Ile71fs)
|
rs2146476025
|
|
|
NM_173354.5(SIK1):c.2127G>A (p.Leu709=)
|
rs1173555669
|
|
|
NM_173354.5(SIK1):c.2133C>G (p.Pro711=)
|
rs2146467763
|
|
|
NM_173354.5(SIK1):c.2148C>G (p.Thr716=)
|
|
|
|
NM_173354.5(SIK1):c.2151C>G (p.Gly717=)
|
rs532529872
|
|
|
NM_173354.5(SIK1):c.2160G>A (p.Pro720=)
|
|
|
|
NM_173354.5(SIK1):c.2166C>T (p.Ala722=)
|
rs994009828
|
|
|
NM_173354.5(SIK1):c.2172G>A (p.Ala724=)
|
rs897883794
|
|
|
NM_173354.5(SIK1):c.2182C>T (p.Leu728=)
|
rs926567754
|
|
|
NM_173354.5(SIK1):c.2196G>A (p.Leu732=)
|
|
|
|
NM_173354.5(SIK1):c.2208C>G (p.Thr736=)
|
rs377024605
|
|
|
NM_173354.5(SIK1):c.2211C>T (p.Gly737=)
|
rs754064357
|
|
|
NM_173354.5(SIK1):c.2220C>T (p.Ala740=)
|
|
|
|
NM_173354.5(SIK1):c.2226C>G (p.Pro742=)
|
rs199872172
|
|
|
NM_173354.5(SIK1):c.2238A>G (p.Pro746=)
|
|
|
|
NM_173354.5(SIK1):c.2250C>T (p.Ala750=)
|
|
|
|
NM_173354.5(SIK1):c.2311C>T (p.Leu771=)
|
rs2146467426
|
|
|
NM_173354.5(SIK1):c.2334G>A (p.Thr778=)
|
rs149343716
|
|
|
NM_173354.5(SIK1):c.2340C>T (p.Val780=)
|
rs2146467388
|
|
|
NM_173354.5(SIK1):c.237G>A (p.Lys79=)
|
|
|
|
NM_173354.5(SIK1):c.24C>T (p.Ser8=)
|
|
|
|
NM_173354.5(SIK1):c.252A>G (p.Pro84=)
|
|
|
|
NM_173354.5(SIK1):c.273+13C>T
|
|
|
|
NM_173354.5(SIK1):c.273+15T>C
|
rs201358826
|
|
|
NM_173354.5(SIK1):c.273+15T>G
|
rs201358826
|
|
|
NM_173354.5(SIK1):c.273+16G>A
|
rs1311079707
|
|
|
NM_173354.5(SIK1):c.273+7G>A
|
rs2146475913
|
|
|
NM_173354.5(SIK1):c.273+8G>A
|
rs370279333
|
|
|
NM_173354.5(SIK1):c.274-5T>C
|
|
|
|
NM_173354.5(SIK1):c.274-6C>A
|
|
|
|
NM_173354.5(SIK1):c.282A>G (p.Glu94=)
|
|
|
|
NM_173354.5(SIK1):c.285A>G (p.Thr95=)
|
rs2146474546
|
|
|
NM_173354.5(SIK1):c.337+10A>G
|
|
|
|
NM_173354.5(SIK1):c.337+11C>T
|
|
|
|
NM_173354.5(SIK1):c.337+17T>C
|
rs2146474455
|
|
|
NM_173354.5(SIK1):c.337+19C>T
|
|
|
|
NM_173354.5(SIK1):c.337+20A>G
|
|
|
|
NM_173354.5(SIK1):c.338-14T>C
|
rs2146474287
|
|
|
NM_173354.5(SIK1):c.338-18T>C
|
|
|
|
NM_173354.5(SIK1):c.338-25_338-20del
|
|
|
|
NM_173354.5(SIK1):c.33C>A (p.Pro11=)
|
|
|
|
NM_173354.5(SIK1):c.348T>G (p.Thr116=)
|
rs2146474230
|
|
|
NM_173354.5(SIK1):c.357G>A (p.Gly119=)
|
|
|
|
NM_173354.5(SIK1):c.36G>C (p.Ala12=)
|
rs763900549
|
|
|
NM_173354.5(SIK1):c.377C>T (p.Ala126Val)
|
rs2081057135
|
|
|
NM_173354.5(SIK1):c.381G>A (p.Arg127=)
|
rs2146474165
|
|
|
NM_173354.5(SIK1):c.400C>T (p.Leu134=)
|
rs1601510250
|
|
|
NM_173354.5(SIK1):c.402G>A (p.Leu134=)
|
|
|
|
NM_173354.5(SIK1):c.402G>C (p.Leu134=)
|
rs925035221
|
|
|
NM_173354.5(SIK1):c.424G>C (p.Asp142His)
|
rs45491503
|
|
|
NM_173354.5(SIK1):c.466C>T (p.Leu156=)
|
rs1569016426
|
|
|
NM_173354.5(SIK1):c.468G>A (p.Leu156=)
|
rs2081056659
|
|
|
NM_173354.5(SIK1):c.499+10_499+11delinsCC
|
rs2146474030
|
|
|
NM_173354.5(SIK1):c.499+13C>T
|
|
|
|
NM_173354.5(SIK1):c.499+13_499+55del
|
rs2146473974
|
|
|
NM_173354.5(SIK1):c.499+16G>A
|
|
|
|
NM_173354.5(SIK1):c.499+17G>A
|
|
|
|
NM_173354.5(SIK1):c.499+9G>T
|
rs772859594
|
|
|
NM_173354.5(SIK1):c.500-6G>A
|
|
|
|
NM_173354.5(SIK1):c.500-6G>T
|
rs537948000
|
|
|
NM_173354.5(SIK1):c.500-7C>T
|
|
|
|
NM_173354.5(SIK1):c.501T>C (p.Asp167=)
|
|
|
|
NM_173354.5(SIK1):c.513G>C (p.Gly171=)
|
rs2081055591
|
|
|
NM_173354.5(SIK1):c.525G>A (p.Lys175=)
|
|
|
|
NM_173354.5(SIK1):c.534G>A (p.Glu178=)
|
|
|
|
NM_173354.5(SIK1):c.552T>C (p.Cys184=)
|
rs2146473768
|
|
|
NM_173354.5(SIK1):c.564G>A (p.Pro188=)
|
rs373343445
|
|
|
NM_173354.5(SIK1):c.564G>T (p.Pro188=)
|
rs373343445
|
|
|
NM_173354.5(SIK1):c.570C>T (p.Ala190=)
|
|
|
|
NM_173354.5(SIK1):c.573C>T (p.Ala191=)
|
rs766226295
|
|
|
NM_173354.5(SIK1):c.57G>A (p.Gln19=)
|
|
|
|
NM_173354.5(SIK1):c.591G>C (p.Gly197=)
|
rs1463286648
|
|
|
NM_173354.5(SIK1):c.600T>C (p.Tyr200=)
|
rs2146473660
|
|
|
NM_173354.5(SIK1):c.606C>A (p.Gly202=)
|
rs2146473652
|
|
|
NM_173354.5(SIK1):c.624+12G>A
|
|
|
|
NM_173354.5(SIK1):c.624+19C>G
|
|
|
|
NM_173354.5(SIK1):c.624+20A>G
|
|
|
|
NM_173354.5(SIK1):c.625-12G>C
|
rs756924717
|
|
|
NM_173354.5(SIK1):c.625-6C>T
|
|
|
|
NM_173354.5(SIK1):c.625-9C>T
|
rs2146473425
|
|
|
NM_173354.5(SIK1):c.633C>T (p.Gly211=)
|
|
|
|
NM_173354.5(SIK1):c.63C>A (p.Pro21=)
|
rs2146476475
|
|
|
NM_173354.5(SIK1):c.645C>T (p.Tyr215=)
|
|
|
|
NM_173354.5(SIK1):c.648C>T (p.Val216=)
|
|
|
|
NM_173354.5(SIK1):c.654C>T (p.Val218=)
|
|
|
|
NM_173354.5(SIK1):c.657C>T (p.Cys219=)
|
|
|
|
NM_173354.5(SIK1):c.666C>T (p.Leu222=)
|
rs2146473356
|
|
|
NM_173354.5(SIK1):c.669C>T (p.Pro223=)
|
rs138329388
|
|
|
NM_173354.5(SIK1):c.693G>C (p.Thr231=)
|
|
|
|
NM_173354.5(SIK1):c.702G>A (p.Gln234=)
|
rs2146473256
|
|
|
NM_173354.5(SIK1):c.720C>T (p.Arg240=)
|
|
|
|
NM_173354.5(SIK1):c.748+16T>C
|
|
|
|
NM_173354.5(SIK1):c.748+17C>G
|
|
|
|
NM_173354.5(SIK1):c.748+20del
|
|
|
|
NM_173354.5(SIK1):c.749-11C>T
|
|
|
|
NM_173354.5(SIK1):c.749-4A>C
|
|
|
|
NM_173354.5(SIK1):c.765C>A (p.Ile255=)
|
|
|
|
NM_173354.5(SIK1):c.801C>T (p.Ile267=)
|
|
|
|
NM_173354.5(SIK1):c.804C>A (p.Thr268=)
|
rs2146472763
|
|
|
NM_173354.5(SIK1):c.840T>C (p.Ala280=)
|
rs779456208
|
|
|
NM_173354.5(SIK1):c.849C>T (p.Cys283=)
|
rs528484611
|
|
|
NM_173354.5(SIK1):c.850T>C (p.Leu284=)
|
rs2146472664
|
|
|
NM_173354.5(SIK1):c.855G>T (p.Pro285=)
|
rs549052367
|
|
|
NM_173354.5(SIK1):c.871G>A (p.Ala291Thr)
|
rs201889040
|
|
|
NM_173354.5(SIK1):c.87C>T (p.Ile29=)
|
|
|
|
NM_173354.5(SIK1):c.891C>T (p.Tyr297=)
|
|
|
|
NM_173354.5(SIK1):c.894C>G (p.Thr298=)
|
|
|
|
NM_173354.5(SIK1):c.900C>T (p.Asn300=)
|
rs2146472549
|
|
|
NM_173354.5(SIK1):c.901C>T (p.Leu301=)
|
rs1467859908
|
|
|
NM_173354.5(SIK1):c.90G>A (p.Glu30=)
|
|
|
|
NM_173354.5(SIK1):c.912C>T (p.Tyr304=)
|
rs1294261387
|
|
|
NM_173354.5(SIK1):c.924G>T (p.Ala308=)
|
rs199738681
|
|
|
NM_173354.5(SIK1):c.943C>T (p.Leu315=)
|
rs763874876
|
|
|
NM_173354.5(SIK1):c.948C>A (p.Gly316=)
|
|
|
|
NM_173354.5(SIK1):c.972+10G>A
|
rs2146472401
|
|
|
NM_173354.5(SIK1):c.972+13_972+27del
|
|
|
|
NM_173354.5(SIK1):c.972+14C>T
|
|
|
|
NM_173354.5(SIK1):c.973-13C>T
|
|
|
|
NM_173354.5(SIK1):c.973-14C>T
|
|
|
|
NM_173354.5(SIK1):c.973-16C>T
|
rs2146472238
|
|
|
NM_173354.5(SIK1):c.973-5C>G
|
|
|
|
NM_173354.5(SIK1):c.993T>C (p.Tyr331=)
|
|
|
|
NM_173354.5(SIK1):c.99G>A (p.Leu33=)
|
rs1220306715
|
|
|
NM_173354.5(SIK1):c.9C>T (p.Ile3=)
|
rs1307688110
|
|
|
NM_173728.4(ARHGEF15):c.1048+17C>G
|
|
|
|
NM_173728.4(ARHGEF15):c.1048+7G>T
|
rs1904909898
|
|
|
NM_173728.4(ARHGEF15):c.1049-15A>G
|
rs2151638840
|
|
|
NM_173728.4(ARHGEF15):c.1049-15_1049-14del
|
|
|
|
NM_173728.4(ARHGEF15):c.1049-17C>G
|
|
|
|
NM_173728.4(ARHGEF15):c.1077C>T (p.Ala359=)
|
rs756215355
|
|
|
NM_173728.4(ARHGEF15):c.1080G>A (p.Val360=)
|
rs2151638905
|
|
|
NM_173728.4(ARHGEF15):c.108T>C (p.Pro36=)
|
rs2151634774
|
|
|
NM_173728.4(ARHGEF15):c.1125T>G (p.Ser375=)
|
|
|
|
NM_173728.4(ARHGEF15):c.123C>T (p.Ser41=)
|
|
|
|
NM_173728.4(ARHGEF15):c.1260+19A>C
|
|
|
|
NM_173728.4(ARHGEF15):c.1260+8C>A
|
rs73975818
|
|
|
NM_173728.4(ARHGEF15):c.1261-16C>G
|
rs2151639422
|
|
|
NM_173728.4(ARHGEF15):c.1261-5del
|
rs1203166045
|
|
|
NM_173728.4(ARHGEF15):c.1281G>T (p.Thr427=)
|
|
|
|
NM_173728.4(ARHGEF15):c.135A>G (p.Glu45=)
|
|
|
|
NM_173728.4(ARHGEF15):c.1374C>T (p.His458=)
|
|
|
|
NM_173728.4(ARHGEF15):c.1380A>C (p.Thr460=)
|
|
|
|
NM_173728.4(ARHGEF15):c.1383C>G (p.Leu461=)
|
rs1597463605
|
|
|
NM_173728.4(ARHGEF15):c.1404C>T (p.Val468=)
|
|
|
|
NM_173728.4(ARHGEF15):c.1413C>G (p.Val471=)
|
|
|
|
NM_173728.4(ARHGEF15):c.1421+10T>C
|
|
|
|
NM_173728.4(ARHGEF15):c.1421+9C>T
|
rs2151639794
|
|
|
NM_173728.4(ARHGEF15):c.1422-13_1422-12del
|
|
|
|
NM_173728.4(ARHGEF15):c.1518G>A (p.Val506=)
|
|
|
|
NM_173728.4(ARHGEF15):c.1574+12A>C
|
rs1316325964
|
|
|
NM_173728.4(ARHGEF15):c.1574+12del
|
|
|
|
NM_173728.4(ARHGEF15):c.1574+14G>T
|
|
|
|
NM_173728.4(ARHGEF15):c.1575-12C>T
|
|
|
|
NM_173728.4(ARHGEF15):c.1599C>T (p.Ala533=)
|
|
|
|
NM_173728.4(ARHGEF15):c.15C>T (p.Ser5=)
|
rs1366729811
|
|
|
NM_173728.4(ARHGEF15):c.1611G>A (p.Arg537=)
|
rs772815565
|
|
|
NM_173728.4(ARHGEF15):c.1636C>A (p.Arg546=)
|
|
|
|
NM_173728.4(ARHGEF15):c.1644G>A (p.Pro548=)
|
|
|
|
NM_173728.4(ARHGEF15):c.1668C>T (p.Pro556=)
|
|
|
|
NM_173728.4(ARHGEF15):c.1686G>A (p.Arg562=)
|
rs755563536
|
|
|
NM_173728.4(ARHGEF15):c.1704+11_1704+12delinsGG
|
rs2151640744
|
|
|
NM_173728.4(ARHGEF15):c.1731G>C (p.Gly577=)
|
rs2151643008
|
|
|
NM_173728.4(ARHGEF15):c.174C>T (p.Cys58=)
|
|
|
|
NM_173728.4(ARHGEF15):c.1773C>T (p.Val591=)
|
|
|
|
NM_173728.4(ARHGEF15):c.1780-10C>G
|
rs2151643233
|
|
|
NM_173728.4(ARHGEF15):c.1803G>A (p.Glu601=)
|
|
|
|
NM_173728.4(ARHGEF15):c.1821G>A (p.Gln607=)
|
rs2151643370
|
|
|
NM_173728.4(ARHGEF15):c.1855C>A (p.Arg619Ser)
|
rs373534537
|
|
|
NM_173728.4(ARHGEF15):c.1873-12G>A
|
|
|
|
NM_173728.4(ARHGEF15):c.1873-13C>T
|
|
|
|
NM_173728.4(ARHGEF15):c.1873-14C>A
|
|
|
|
NM_173728.4(ARHGEF15):c.1881C>G (p.Pro627=)
|
|
|
|
NM_173728.4(ARHGEF15):c.1884G>C (p.Leu628=)
|
|
|
|
NM_173728.4(ARHGEF15):c.1887C>T (p.Val629=)
|
|
|
|
NM_173728.4(ARHGEF15):c.1897C>A (p.Arg633=)
|
|
|
|
NM_173728.4(ARHGEF15):c.1902C>T (p.Arg634=)
|
rs2151643639
|
|
|
NM_173728.4(ARHGEF15):c.1929G>A (p.Glu643=)
|
rs2151643679
|
|
|
NM_173728.4(ARHGEF15):c.1941G>T (p.Arg647=)
|
rs771555022
|
|
|
NM_173728.4(ARHGEF15):c.1944G>C (p.Arg648Ser)
|
rs201714597
|
|
|
NM_173728.4(ARHGEF15):c.1947G>A (p.Gly649=)
|
rs763594377
|
|
|
NM_173728.4(ARHGEF15):c.1950C>G (p.Gly650=)
|
rs200647100
|
|
|
NM_173728.4(ARHGEF15):c.1962C>T (p.Ala654=)
|
|
|
|
NM_173728.4(ARHGEF15):c.1965G>A (p.Ser655=)
|
rs781290250
|
|
|
NM_173728.4(ARHGEF15):c.1983T>C (p.Pro661=)
|
rs2151643836
|
|
|
NM_173728.4(ARHGEF15):c.2007C>T (p.Asp669=)
|
|
|
|
NM_173728.4(ARHGEF15):c.201T>G (p.Ala67=)
|
|
|
|
NM_173728.4(ARHGEF15):c.2033+10A>G
|
rs758137088
|
|
|
NM_173728.4(ARHGEF15):c.2033+7C>G
|
rs1905199907
|
|
|
NM_173728.4(ARHGEF15):c.2034-20A>G
|
|
|
|
NM_173728.4(ARHGEF15):c.2049G>A (p.Gln683=)
|
rs2151644084
|
|
|
NM_173728.4(ARHGEF15):c.2064C>T (p.Ala688=)
|
|
|
|
NM_173728.4(ARHGEF15):c.2091G>A (p.Gln697=)
|
rs2151644159
|
|
|
NM_173728.4(ARHGEF15):c.2154C>T (p.Arg718=)
|
rs1245486698
|
|
|
NM_173728.4(ARHGEF15):c.2157C>T (p.Pro719=)
|
rs1597466665
|
|
|
NM_173728.4(ARHGEF15):c.2223C>G (p.Thr741=)
|
|
|
|
NM_173728.4(ARHGEF15):c.2241C>T (p.Cys747=)
|
|
|
|
NM_173728.4(ARHGEF15):c.2253C>T (p.Thr751=)
|
|
|
|
NM_173728.4(ARHGEF15):c.2269+10C>T
|
|
|
|
NM_173728.4(ARHGEF15):c.2269+14del
|
|
|
|
NM_173728.4(ARHGEF15):c.2270-13C>T
|
|
|
|
NM_173728.4(ARHGEF15):c.2270-8C>G
|
|
|
|
NM_173728.4(ARHGEF15):c.228G>A (p.Leu76=)
|
|
|
|
NM_173728.4(ARHGEF15):c.234C>T (p.Pro78=)
|
rs1904677575
|
|
|
NM_173728.4(ARHGEF15):c.2374+15_2374+19del
|
|
|
|
NM_173728.4(ARHGEF15):c.2374+9G>A
|
rs1905256364
|
|
|
NM_173728.4(ARHGEF15):c.2375-12C>T
|
|
|
|
NM_173728.4(ARHGEF15):c.2439C>T (p.His813=)
|
|
|
|
NM_173728.4(ARHGEF15):c.2478C>G (p.Leu826=)
|
rs201613571
|
|
|
NM_173728.4(ARHGEF15):c.2478C>T (p.Leu826=)
|
rs201613571
|
|
|
NM_173728.4(ARHGEF15):c.249C>T (p.Ala83=)
|
rs1305494302
|
|
|
NM_173728.4(ARHGEF15):c.252C>T (p.Ser84=)
|
|
|
|
NM_173728.4(ARHGEF15):c.267T>C (p.Thr89=)
|
rs766058117
|
|
|
NM_173728.4(ARHGEF15):c.309G>A (p.Val103=)
|
|
|
|
NM_173728.4(ARHGEF15):c.315G>A (p.Arg105=)
|
rs1429853363
|
|
|
NM_173728.4(ARHGEF15):c.345G>A (p.Arg115=)
|
|
|
|
NM_173728.4(ARHGEF15):c.357C>T (p.Pro119=)
|
|
|
|
NM_173728.4(ARHGEF15):c.36C>T (p.Pro12=)
|
|
|
|
NM_173728.4(ARHGEF15):c.39G>A (p.Thr13=)
|
rs775304849
|
|
|
NM_173728.4(ARHGEF15):c.459G>A (p.Leu153=)
|
rs2151635441
|
|
|
NM_173728.4(ARHGEF15):c.561T>C (p.Ala187=)
|
|
|
|
NM_173728.4(ARHGEF15):c.576T>C (p.Ser192=)
|
|
|
|
NM_173728.4(ARHGEF15):c.591C>T (p.Asn197=)
|
|
|
|
NM_173728.4(ARHGEF15):c.601+14G>T
|
|
|
|
NM_173728.4(ARHGEF15):c.602-15A>G
|
|
|
|
NM_173728.4(ARHGEF15):c.602-16T>C
|
|
|
|
NM_173728.4(ARHGEF15):c.609C>T (p.Gly203=)
|
|
|
|
NM_173728.4(ARHGEF15):c.627C>T (p.Cys209=)
|
rs2151636121
|
|
|
NM_173728.4(ARHGEF15):c.657T>C (p.Pro219=)
|
rs1252152137
|
|
|
NM_173728.4(ARHGEF15):c.729G>A (p.Pro243=)
|
|
|
|
NM_173728.4(ARHGEF15):c.732G>T (p.Leu244=)
|
|
|
|
NM_173728.4(ARHGEF15):c.733C>A (p.Arg245=)
|
rs371870992
|
|
|
NM_173728.4(ARHGEF15):c.759T>C (p.Pro253=)
|
rs1060503817
|
|
|
NM_173728.4(ARHGEF15):c.780C>G (p.Ala260=)
|
rs768476171
|
|
|
NM_173728.4(ARHGEF15):c.780C>T (p.Ala260=)
|
|
|
|
NM_173728.4(ARHGEF15):c.795C>G (p.Ser265=)
|
rs749526957
|
|
|
NM_173728.4(ARHGEF15):c.888C>A (p.Pro296=)
|
|
|
|
NM_173728.4(ARHGEF15):c.891A>C (p.Pro297=)
|
|
|
|
NM_173728.4(ARHGEF15):c.90T>C (p.Ala30=)
|
|
|
|
NM_173728.4(ARHGEF15):c.934+13G>A
|
|
|
|
NM_173728.4(ARHGEF15):c.934+14G>A
|
|
|
|
NM_173728.4(ARHGEF15):c.934+17A>C
|
|
|
|
NM_173728.4(ARHGEF15):c.934+19T>C
|
|
|
|
NM_173728.4(ARHGEF15):c.989+12C>A
|
|
|
|
NM_173728.4(ARHGEF15):c.989+16_989+20dup
|
|
|
|
NM_177550.5(SLC13A5):c.1005C>A (p.Pro335=)
|
rs56224509
|
|
|
NM_177550.5(SLC13A5):c.1017C>G (p.Pro339=)
|
rs200365614
|
|
|
NM_177550.5(SLC13A5):c.102+11T>A
|
|
|
|
NM_177550.5(SLC13A5):c.102+13del
|
rs2151505633
|
|
|
NM_177550.5(SLC13A5):c.102+19C>A
|
|
|
|
NM_177550.5(SLC13A5):c.102+20A>G
|
|
|
|
NM_177550.5(SLC13A5):c.102+9C>T
|
|
|
|
NM_177550.5(SLC13A5):c.103-14G>A
|
|
|
|
NM_177550.5(SLC13A5):c.103-20C>G
|
|
|
|
NM_177550.5(SLC13A5):c.1053A>G (p.Thr351=)
|
|
|
|
NM_177550.5(SLC13A5):c.1055+10G>A
|
|
|
|
NM_177550.5(SLC13A5):c.1055+12A>G
|
rs1567617699
|
|
|
NM_177550.5(SLC13A5):c.1055+14T>G
|
|
|
|
NM_177550.5(SLC13A5):c.1056-15C>A
|
|
|
|
NM_177550.5(SLC13A5):c.1056-4C>A
|
rs763014412
|
|
|
NM_177550.5(SLC13A5):c.1056-5C>T
|
rs1597661291
|
|
|
NM_177550.5(SLC13A5):c.1056-6A>G
|
rs1597661297
|
|
|
NM_177550.5(SLC13A5):c.1071C>T (p.Ala357=)
|
|
|
|
NM_177550.5(SLC13A5):c.1098G>A (p.Leu366=)
|
|
|
|
NM_177550.5(SLC13A5):c.1098G>T (p.Leu366=)
|
rs1355898652
|
|
|
NM_177550.5(SLC13A5):c.1137C>T (p.Phe379=)
|
|
|
|
NM_177550.5(SLC13A5):c.1156+11T>G
|
rs1172086493
|
|
|
NM_177550.5(SLC13A5):c.1156+20C>A
|
rs368150158
|
|
|
NM_177550.5(SLC13A5):c.1156+7C>A
|
|
|
|
NM_177550.5(SLC13A5):c.1157-16T>G
|
|
|
|
NM_177550.5(SLC13A5):c.1157-19_1157-18insTGTA
|
|
|
|
NM_177550.5(SLC13A5):c.1157-4C>A
|
rs772441738
|
|
|
NM_177550.5(SLC13A5):c.1157-68GT[12]
|
|
|
|
NM_177550.5(SLC13A5):c.1157-68GT[13]
|
rs200900896
|
|
|
NM_177550.5(SLC13A5):c.1157-68GT[14]
|
rs200900896
|
|
|
NM_177550.5(SLC13A5):c.1157-68GT[16]
|
rs200900896
|
|
|
NM_177550.5(SLC13A5):c.1157-68GT[17]
|
rs200900896
|
|
|
NM_177550.5(SLC13A5):c.1157-68GT[19]
|
rs200900896
|
|
|
NM_177550.5(SLC13A5):c.1157-68GT[23]
|
rs200900896
|
|
|
NM_177550.5(SLC13A5):c.1157-68GT[27]
|
rs200900896
|
|
|
NM_177550.5(SLC13A5):c.1157-68GT[28]
|
rs200900896
|
|
|
NM_177550.5(SLC13A5):c.1157-68GT[29]
|
rs200900896
|
|
|
NM_177550.5(SLC13A5):c.1157-68GT[30]
|
rs200900896
|
|
|
NM_177550.5(SLC13A5):c.1157-68GT[31]
|
rs200900896
|
|
|
NM_177550.5(SLC13A5):c.1157-68GT[32]
|
rs200900896
|
|
|
NM_177550.5(SLC13A5):c.1157-68GT[33]
|
rs200900896
|
|
|
NM_177550.5(SLC13A5):c.1157-68GT[34]
|
rs200900896
|
|
|
NM_177550.5(SLC13A5):c.1157-68GT[35]
|
rs200900896
|
|
|
NM_177550.5(SLC13A5):c.1157-68GT[36]
|
rs200900896
|
|
|
NM_177550.5(SLC13A5):c.1157-68GT[38]
|
|
|
|
NM_177550.5(SLC13A5):c.1157-68GT[8]
|
|
|
|
NM_177550.5(SLC13A5):c.1157-68GT[9]
|
|
|
|
NM_177550.5(SLC13A5):c.1182T>A (p.Pro394=)
|
|
|
|
NM_177550.5(SLC13A5):c.1189C>T (p.Leu397=)
|
|
|
|
NM_177550.5(SLC13A5):c.1206C>G (p.Thr402=)
|
|
|
|
NM_177550.5(SLC13A5):c.1242A>G (p.Leu414=)
|
|
|
|
NM_177550.5(SLC13A5):c.1248C>A (p.Gly416=)
|
rs139042926
|
|
|
NM_177550.5(SLC13A5):c.1248C>G (p.Gly416=)
|
rs139042926
|
|
|
NM_177550.5(SLC13A5):c.1248C>T (p.Gly416=)
|
rs139042926
|
|
|
NM_177550.5(SLC13A5):c.1275+15C>T
|
rs2150966936
|
|
|
NM_177550.5(SLC13A5):c.1275+9T>A
|
|
|
|
NM_177550.5(SLC13A5):c.1275+9_1275+70del
|
rs2150966895
|
|
|
NM_177550.5(SLC13A5):c.1276-11G>A
|
rs1597657068
|
|
|
NM_177550.5(SLC13A5):c.1276-15C>T
|
|
|
|
NM_177550.5(SLC13A5):c.1276-9G>T
|
|
|
|
NM_177550.5(SLC13A5):c.1290C>G (p.Ser430=)
|
rs756166033
|
|
|
NM_177550.5(SLC13A5):c.1335G>A (p.Pro445=)
|
rs138802643
|
|
|
NM_177550.5(SLC13A5):c.1335G>C (p.Pro445=)
|
rs138802643
|
|
|
NM_177550.5(SLC13A5):c.1341C>T (p.Ala447=)
|
|
|
|
NM_177550.5(SLC13A5):c.1348T>C (p.Leu450=)
|
|
|
|
NM_177550.5(SLC13A5):c.1356G>A (p.Leu452=)
|
|
|
|
NM_177550.5(SLC13A5):c.1371C>T (p.Ala457=)
|
|
|
|
NM_177550.5(SLC13A5):c.1383G>A (p.Glu461=)
|
|
|
|
NM_177550.5(SLC13A5):c.1422C>T (p.Pro474=)
|
rs2150964713
|
|
|
NM_177550.5(SLC13A5):c.1428T>C (p.Phe476=)
|
rs1450058801
|
|
|
NM_177550.5(SLC13A5):c.1437+15del
|
rs1555540915
|
|
|
NM_177550.5(SLC13A5):c.1437+20G>A
|
|
|
|
NM_177550.5(SLC13A5):c.1437+20G>C
|
|
|
|
NM_177550.5(SLC13A5):c.1437+9C>T
|
rs1216705623
|
|
|
NM_177550.5(SLC13A5):c.1438-19C>T
|
|
|
|
NM_177550.5(SLC13A5):c.1494C>T (p.Ala498=)
|
rs1046475172
|
|
|
NM_177550.5(SLC13A5):c.1497C>A (p.Ser499=)
|
rs949451311
|
|
|
NM_177550.5(SLC13A5):c.1510T>C (p.Leu504=)
|
rs759151984
|
|
|
NM_177550.5(SLC13A5):c.1524C>T (p.Thr508=)
|
rs2150961768
|
|
|
NM_177550.5(SLC13A5):c.1536C>T (p.Ala512=)
|
rs1973282772
|
|
|
NM_177550.5(SLC13A5):c.1563G>A (p.Lys521=)
|
rs1597653033
|
|
|
NM_177550.5(SLC13A5):c.1575+8A>G
|
|
|
|
NM_177550.5(SLC13A5):c.1576-20T>A
|
rs2150960911
|
|
|
NM_177550.5(SLC13A5):c.1576-4C>G
|
|
|
|
NM_177550.5(SLC13A5):c.1624T>C (p.Leu542=)
|
|
|
|
NM_177550.5(SLC13A5):c.1632C>T (p.Val544=)
|
rs1597651519
|
|
|
NM_177550.5(SLC13A5):c.168G>A (p.Leu56=)
|
|
|
|
NM_177550.5(SLC13A5):c.171T>C (p.Ala57=)
|
rs1379801780
|
|
|
NM_177550.5(SLC13A5):c.201C>T (p.Phe67=)
|
rs900258843
|
|
|
NM_177550.5(SLC13A5):c.21T>C (p.Tyr7=)
|
|
|
|
NM_177550.5(SLC13A5):c.231+12C>T
|
|
|
|
NM_177550.5(SLC13A5):c.231+20C>G
|
|
|
|
NM_177550.5(SLC13A5):c.232-5T>A
|
|
|
|
NM_177550.5(SLC13A5):c.232-8_232-7delinsTA
|
rs2151498313
|
|
|
NM_177550.5(SLC13A5):c.234G>A (p.Val78=)
|
|
|
|
NM_177550.5(SLC13A5):c.237T>C (p.Cys79=)
|
rs768939788
|
|
|
NM_177550.5(SLC13A5):c.24C>A (p.Val8=)
|
rs2151505851
|
|
|
NM_177550.5(SLC13A5):c.252G>A (p.Lys84=)
|
|
|
|
NM_177550.5(SLC13A5):c.267G>C (p.Leu89=)
|
|
|
|
NM_177550.5(SLC13A5):c.271C>T (p.Leu91=)
|
|
|
|
NM_177550.5(SLC13A5):c.276C>A (p.Gly92=)
|
rs771703938
|
|
|
NM_177550.5(SLC13A5):c.279C>T (p.Gly93=)
|
|
|
|
NM_177550.5(SLC13A5):c.291C>T (p.Ala97=)
|
|
|
|
NM_177550.5(SLC13A5):c.303G>A (p.Glu101=)
|
|
|
|
NM_177550.5(SLC13A5):c.312C>T (p.Asn104=)
|
|
|
|
NM_177550.5(SLC13A5):c.318C>T (p.His106=)
|
rs1973874419
|
|
|
NM_177550.5(SLC13A5):c.339G>A (p.Thr113=)
|
|
|
|
NM_177550.5(SLC13A5):c.366A>G (p.Ala122=)
|
|
|
|
NM_177550.5(SLC13A5):c.368+12T>C
|
|
|
|
NM_177550.5(SLC13A5):c.368+15T>C
|
|
|
|
NM_177550.5(SLC13A5):c.368+16C>G
|
|
|
|
NM_177550.5(SLC13A5):c.368+9G>T
|
|
|
|
NM_177550.5(SLC13A5):c.369-19C>G
|
|
|
|
NM_177550.5(SLC13A5):c.378G>C (p.Leu126=)
|
|
|
|
NM_177550.5(SLC13A5):c.39C>G (p.Ser13=)
|
rs2151505818
|
|
|
NM_177550.5(SLC13A5):c.417C>T (p.Ile139=)
|
|
|
|
NM_177550.5(SLC13A5):c.426G>C (p.Thr142=)
|
|
|
|
NM_177550.5(SLC13A5):c.426G>T (p.Thr142=)
|
rs72836208
|
|
|
NM_177550.5(SLC13A5):c.435G>A (p.Thr145=)
|
|
|
|
NM_177550.5(SLC13A5):c.450C>T (p.Pro150=)
|
|
|
|
NM_177550.5(SLC13A5):c.459G>A (p.Glu153=)
|
rs1057521689
|
|
|
NM_177550.5(SLC13A5):c.486A>G (p.Thr162=)
|
rs1438628302
|
|
|
NM_177550.5(SLC13A5):c.48C>T (p.Ile16=)
|
|
|
|
NM_177550.5(SLC13A5):c.522C>T (p.Asp174=)
|
|
|
|
NM_177550.5(SLC13A5):c.547+19C>T
|
|
|
|
NM_177550.5(SLC13A5):c.547+9C>T
|
rs1203815263
|
|
|
NM_177550.5(SLC13A5):c.548-10C>T
|
rs2151494144
|
|
|
NM_177550.5(SLC13A5):c.548-11G>C
|
|
|
|
NM_177550.5(SLC13A5):c.548-13G>C
|
|
|
|
NM_177550.5(SLC13A5):c.548-14T>G
|
|
|
|
NM_177550.5(SLC13A5):c.548-16G>A
|
|
|
|
NM_177550.5(SLC13A5):c.548-16G>T
|
|
|
|
NM_177550.5(SLC13A5):c.548-20C>T
|
|
|
|
NM_177550.5(SLC13A5):c.561T>A (p.Ile187=)
|
|
|
|
NM_177550.5(SLC13A5):c.561T>C (p.Ile187=)
|
|
|
|
NM_177550.5(SLC13A5):c.570C>A (p.Gly190=)
|
|
|
|
NM_177550.5(SLC13A5):c.570C>T (p.Gly190=)
|
|
|
|
NM_177550.5(SLC13A5):c.582G>C (p.Gly194=)
|
rs147260918
|
|
|
NM_177550.5(SLC13A5):c.601C>A (p.Arg201=)
|
|
|
|
NM_177550.5(SLC13A5):c.609G>A (p.Arg203=)
|
rs2151494038
|
|
|
NM_177550.5(SLC13A5):c.60C>G (p.Thr20=)
|
|
|
|
NM_177550.5(SLC13A5):c.627C>A (p.Thr209=)
|
rs1259516551
|
|
|
NM_177550.5(SLC13A5):c.627C>T (p.Thr209=)
|
|
|
|
NM_177550.5(SLC13A5):c.648C>T (p.Ala216=)
|
|
|
|
NM_177550.5(SLC13A5):c.657G>A (p.Gly219=)
|
|
|
|
NM_177550.5(SLC13A5):c.666C>T (p.Ala222=)
|
rs1973756878
|
|
|
NM_177550.5(SLC13A5):c.669C>A (p.Thr223=)
|
rs1425515226
|
|
|
NM_177550.5(SLC13A5):c.669C>T (p.Thr223=)
|
rs1425515226
|
|
|
NM_177550.5(SLC13A5):c.66C>T (p.Leu22=)
|
|
|
|
NM_177550.5(SLC13A5):c.705C>T (p.Gly235=)
|
rs1375520259
|
|
|
NM_177550.5(SLC13A5):c.716+14C>T
|
|
|
|
NM_177550.5(SLC13A5):c.716+15G>T
|
|
|
|
NM_177550.5(SLC13A5):c.716+19C>T
|
|
|
|
NM_177550.5(SLC13A5):c.716+8C>T
|
rs746595823
|
|
|
NM_177550.5(SLC13A5):c.717-18G>T
|
|
|
|
NM_177550.5(SLC13A5):c.717-20G>A
|
rs777013140
|
|
|
NM_177550.5(SLC13A5):c.717G>A (p.Glu239=)
|
|
|
|
NM_177550.5(SLC13A5):c.718T>C (p.Leu240=)
|
|
|
|
NM_177550.5(SLC13A5):c.72G>A (p.Leu24=)
|
|
|
|
NM_177550.5(SLC13A5):c.750T>C (p.Phe250=)
|
rs2151492066
|
|
|
NM_177550.5(SLC13A5):c.793C>T (p.Leu265=)
|
|
|
|
NM_177550.5(SLC13A5):c.816C>T (p.Leu272=)
|
|
|
|
NM_177550.5(SLC13A5):c.822T>C (p.Phe274=)
|
|
|
|
NM_177550.5(SLC13A5):c.839+16T>C
|
|
|
|
NM_177550.5(SLC13A5):c.839+7T>G
|
|
|
|
NM_177550.5(SLC13A5):c.839+8T>C
|
|
|
|
NM_177550.5(SLC13A5):c.849G>A (p.Lys283=)
|
rs141681787
|
|
|
NM_177550.5(SLC13A5):c.858C>T (p.Gly286=)
|
|
|
|
NM_177550.5(SLC13A5):c.903G>A (p.Val301=)
|
|
|
|
NM_177550.5(SLC13A5):c.90G>A (p.Leu30=)
|
|
|
|
NM_177550.5(SLC13A5):c.981C>T (p.Val327=)
|
rs2151487186
|
|
|
NM_177550.5(SLC13A5):c.987G>A (p.Leu329=)
|
rs1597663120
|
|
|
NM_203446.2(SYNJ1):c.18C>T (p.Ala6=)
|
|
|
|
NM_203446.2(SYNJ1):c.6G>A (p.Arg2=)
|
|
|
|
NM_203446.3(SYNJ1):c.*117A>G
|
|
|
|
NM_203446.3(SYNJ1):c.*135C>T
|
|
|
|
NM_203446.3(SYNJ1):c.*168T>C
|
|
|
|
NM_203446.3(SYNJ1):c.*189G>A
|
|
|
|
NM_203446.3(SYNJ1):c.*18A>G
|
|
|
|
NM_203446.3(SYNJ1):c.*195T>C
|
rs1323976540
|
|
|
NM_203446.3(SYNJ1):c.*210A>C
|
|
|
|
NM_203446.3(SYNJ1):c.*234G>A
|
|
|
|
NM_203446.3(SYNJ1):c.*234G>T
|
rs777299829
|
|
|
NM_203446.3(SYNJ1):c.*291C>G
|
|
|
|
NM_203446.3(SYNJ1):c.*303T>G
|
rs2145657976
|
|
|
NM_203446.3(SYNJ1):c.*321T>C
|
|
|
|
NM_203446.3(SYNJ1):c.*345C>T
|
|
|
|
NM_203446.3(SYNJ1):c.*363G>A
|
|
|
|
NM_203446.3(SYNJ1):c.*387A>G
|
|
|
|
NM_203446.3(SYNJ1):c.*396T>C
|
rs776168774
|
|
|
NM_203446.3(SYNJ1):c.*4-10T>C
|
|
|
|
NM_203446.3(SYNJ1):c.*4-17C>T
|
rs2145660723
|
|
|
NM_203446.3(SYNJ1):c.*4-18G>A
|
|
|
|
NM_203446.3(SYNJ1):c.*4-19T>C
|
|
|
|
NM_203446.3(SYNJ1):c.*453A>G
|
|
|
|
NM_203446.3(SYNJ1):c.*459A>G
|
rs2039318354
|
|
|
NM_203446.3(SYNJ1):c.*474G>A
|
rs767728958
|
|
|
NM_203446.3(SYNJ1):c.*576A>G
|
|
|
|
NM_203446.3(SYNJ1):c.*60A>C
|
rs1020861731
|
|
|
NM_203446.3(SYNJ1):c.*60A>G
|
rs1020861731
|
|
|
NM_203446.3(SYNJ1):c.*633C>T
|
rs2145655621
|
|
|
NM_203446.3(SYNJ1):c.*634C>T
|
|
|
|
NM_203446.3(SYNJ1):c.*639A>G
|
|
|
|
NM_203446.3(SYNJ1):c.*669T>C
|
|
|
|
NM_203446.3(SYNJ1):c.*677_*679del
|
rs528030561
|
|
|
NM_203446.3(SYNJ1):c.*681T>C
|
|
|
|
NM_203446.3(SYNJ1):c.*684G>A
|
|
|
|
NM_203446.3(SYNJ1):c.*690G>T
|
|
|
|
NM_203446.3(SYNJ1):c.*750A>G
|
|
|
|
NM_203446.3(SYNJ1):c.*753T>C
|
rs2145654435
|
|
|
NM_203446.3(SYNJ1):c.*762G>C
|
|
|
|
NM_203446.3(SYNJ1):c.*783A>G
|
|
|
|
NM_203446.3(SYNJ1):c.*801A>G
|
|
|
|
NM_203446.3(SYNJ1):c.-22-19C>G
|
|
|
|
NM_203446.3(SYNJ1):c.-22-4G>A
|
rs771283717
|
|
|
NM_203446.3(SYNJ1):c.-22-4G>T
|
|
|
|
NM_203446.3(SYNJ1):c.-22-5C>T
|
|
|
|
NM_203446.3(SYNJ1):c.-23+11C>A
|
|
|
|
NM_203446.3(SYNJ1):c.-23+12_-23+13dup
|
|
|
|
NM_203446.3(SYNJ1):c.-23+16G>A
|
|
|
|
NM_203446.3(SYNJ1):c.-23+16G>C
|
rs905741954
|
|
|
NM_203446.3(SYNJ1):c.-23+16G>T
|
|
|
|
NM_203446.3(SYNJ1):c.-23+8A>G
|
|
|
|
NM_203446.3(SYNJ1):c.-25G>A
|
rs2146446925
|
|
|
NM_203446.3(SYNJ1):c.-40G>A
|
|
|
|
NM_203446.3(SYNJ1):c.-4G>A
|
|
|
|
NM_203446.3(SYNJ1):c.-51A>C
|
rs1394751497
|
|
|
NM_203446.3(SYNJ1):c.-58C>T
|
|
|
|
NM_203446.3(SYNJ1):c.-61C>A
|
rs932881262
|
|
|
NM_203446.3(SYNJ1):c.-64C>A
|
rs869206401
|
|
|
NM_203446.3(SYNJ1):c.-64C>G
|
rs869206401
|
|
|
NM_203446.3(SYNJ1):c.-70C>T
|
|
|
|
NM_203446.3(SYNJ1):c.-73C>A
|
|
|
|
NM_203446.3(SYNJ1):c.-76C>A
|
|
|
|
NM_203446.3(SYNJ1):c.-79T>G
|
|
|
|
NM_203446.3(SYNJ1):c.1017T>C (p.Val339=)
|
rs2146090232
|
|
|
NM_203446.3(SYNJ1):c.102G>A (p.Glu34=)
|
|
|
|
NM_203446.3(SYNJ1):c.1047T>C (p.Ser349=)
|
rs2041819587
|
|
|
NM_203446.3(SYNJ1):c.1101T>C (p.Asn367=)
|
|
|
|
NM_203446.3(SYNJ1):c.1116A>G (p.Gln372=)
|
|
|
|
NM_203446.3(SYNJ1):c.1118+11T>G
|
|
|
|
NM_203446.3(SYNJ1):c.1118+14G>A
|
|
|
|
NM_203446.3(SYNJ1):c.1150T>C (p.Leu384=)
|
rs1382405019
|
|
|
NM_203446.3(SYNJ1):c.1179G>T (p.Val393=)
|
rs1179626154
|
|
|
NM_203446.3(SYNJ1):c.1200+19A>G
|
|
|
|
NM_203446.3(SYNJ1):c.1201-16_1201-15del
|
rs2041629073
|
|
|
NM_203446.3(SYNJ1):c.1201-17C>A
|
|
|
|
NM_203446.3(SYNJ1):c.1201-8T>G
|
|
|
|
NM_203446.3(SYNJ1):c.1227T>C (p.Leu409=)
|
|
|
|
NM_203446.3(SYNJ1):c.124+12G>T
|
|
|
|
NM_203446.3(SYNJ1):c.124+19C>G
|
|
|
|
NM_203446.3(SYNJ1):c.124+19C>T
|
|
|
|
NM_203446.3(SYNJ1):c.124+20C>T
|
rs2043472963
|
|
|
NM_203446.3(SYNJ1):c.1249T>C (p.Leu417=)
|
|
|
|
NM_203446.3(SYNJ1):c.1269A>G (p.Glu423=)
|
|
|
|
NM_203446.3(SYNJ1):c.126A>G (p.Ser42=)
|
rs1286622528
|
|
|
NM_203446.3(SYNJ1):c.126A>T (p.Ser42=)
|
rs1286622528
|
|
|
NM_203446.3(SYNJ1):c.1311T>C (p.Ser437=)
|
rs969673470
|
|
|
NM_203446.3(SYNJ1):c.1323A>G (p.Ala441=)
|
rs1468223961
|
|
|
NM_203446.3(SYNJ1):c.1335T>C (p.Ala445=)
|
rs964382126
|
|
|
NM_203446.3(SYNJ1):c.1350G>A (p.Ala450=)
|
|
|
|
NM_203446.3(SYNJ1):c.1353+15A>C
|
rs372526476
|
|
|
NM_203446.3(SYNJ1):c.1353+15A>G
|
|
|
|
NM_203446.3(SYNJ1):c.1353+20A>G
|
|
|
|
NM_203446.3(SYNJ1):c.1353+7C>T
|
|
|
|
NM_203446.3(SYNJ1):c.1389T>A (p.Ile463=)
|
|
|
|
NM_203446.3(SYNJ1):c.1404T>C (p.Phe468=)
|
rs2146025354
|
|
|
NM_203446.3(SYNJ1):c.1425C>G (p.Ala475=)
|
|
|
|
NM_203446.3(SYNJ1):c.150G>A (p.Lys50=)
|
rs2042422021
|
|
|
NM_203446.3(SYNJ1):c.1510+14A>G
|
|
|
|
NM_203446.3(SYNJ1):c.1511-16_1511-14del
|
|
|
|
NM_203446.3(SYNJ1):c.1534+9T>C
|
rs754756374
|
|
|
NM_203446.3(SYNJ1):c.1535-18G>A
|
rs1170021366
|
|
|
NM_203446.3(SYNJ1):c.1605A>G (p.Val535=)
|
|
|
|
NM_203446.3(SYNJ1):c.1611C>G (p.Val537=)
|
rs150180190
|
|
|
NM_203446.3(SYNJ1):c.1617C>A (p.Thr539=)
|
rs2145981618
|
|
|
NM_203446.3(SYNJ1):c.162C>T (p.Ser54=)
|
rs745320827
|
|
|
NM_203446.3(SYNJ1):c.1659T>C (p.Phe553=)
|
rs1374033047
|
|
|
NM_203446.3(SYNJ1):c.1698C>A (p.Pro566=)
|
|
|
|
NM_203446.3(SYNJ1):c.1719G>A (p.Glu573=)
|
rs2041277581
|
|
|
NM_203446.3(SYNJ1):c.1726+10_1726+11insA
|
rs2145980880
|
|
|
NM_203446.3(SYNJ1):c.1727-11C>T
|
|
|
|
NM_203446.3(SYNJ1):c.1727-19C>T
|
|
|
|
NM_203446.3(SYNJ1):c.1728T>C (p.Asp576=)
|
rs761358064
|
|
|
NM_203446.3(SYNJ1):c.1797C>T (p.Asn599=)
|
|
|
|
NM_203446.3(SYNJ1):c.1800T>C (p.Ile600=)
|
rs1449222569
|
|
|
NM_203446.3(SYNJ1):c.1811+12A>G
|
|
|
|
NM_203446.3(SYNJ1):c.1811+8A>G
|
rs900904083
|
|
|
NM_203446.3(SYNJ1):c.1811+8_1811+9insCTT
|
rs1780660901
|
|
|
NM_203446.3(SYNJ1):c.1811+9G>A
|
rs772164147
|
|
|
NM_203446.3(SYNJ1):c.1812-10T>A
|
rs2040942245
|
|
|
NM_203446.3(SYNJ1):c.1812-16T>G
|
rs1165805994
|
|
|
NM_203446.3(SYNJ1):c.1842A>G (p.Glu614=)
|
|
|
|
NM_203446.3(SYNJ1):c.1845T>A (p.Leu615=)
|
|
|
|
NM_203446.3(SYNJ1):c.1851G>A (p.Lys617=)
|
rs2145927066
|
|
|
NM_203446.3(SYNJ1):c.1854A>G (p.Thr618=)
|
|
|
|
NM_203446.3(SYNJ1):c.186C>T (p.Leu62=)
|
|
|
|
NM_203446.3(SYNJ1):c.1878G>A (p.Val626=)
|
rs1601348321
|
|
|
NM_203446.3(SYNJ1):c.1929A>G (p.Arg643=)
|
rs2145926496
|
|
|
NM_203446.3(SYNJ1):c.1950C>A (p.Ile650=)
|
|
|
|
NM_203446.3(SYNJ1):c.1952+17C>T
|
|
|
|
NM_203446.3(SYNJ1):c.1952+19C>T
|
rs2145926225
|
|
|
NM_203446.3(SYNJ1):c.1953-16A>C
|
|
|
|
NM_203446.3(SYNJ1):c.1953-9G>T
|
|
|
|
NM_203446.3(SYNJ1):c.2037T>C (p.His679=)
|
rs2145923461
|
|
|
NM_203446.3(SYNJ1):c.2043C>G (p.Thr681=)
|
rs780909870
|
|
|
NM_203446.3(SYNJ1):c.2055C>T (p.Phe685=)
|
rs765857459
|
|
|
NM_203446.3(SYNJ1):c.2076A>T (p.Ala692=)
|
rs1411849491
|
|
|
NM_203446.3(SYNJ1):c.2079G>A (p.Gly693=)
|
rs2145923177
|
|
|
NM_203446.3(SYNJ1):c.2091C>G (p.Val697=)
|
|
|
|
NM_203446.3(SYNJ1):c.2091C>T (p.Val697=)
|
|
|
|
NM_203446.3(SYNJ1):c.2106A>G (p.Glu702=)
|
|
|
|
NM_203446.3(SYNJ1):c.211+11C>T
|
|
|
|
NM_203446.3(SYNJ1):c.212-13T>C
|
|
|
|
NM_203446.3(SYNJ1):c.212-15C>A
|
|
|
|
NM_203446.3(SYNJ1):c.2131T>C (p.Leu711=)
|
|
|
|
NM_203446.3(SYNJ1):c.2145+14G>A
|
|
|
|
NM_203446.3(SYNJ1):c.2145+18G>A
|
|
|
|
NM_203446.3(SYNJ1):c.2145+8C>A
|
|
|
|
NM_203446.3(SYNJ1):c.2145+8C>G
|
|
|
|
NM_203446.3(SYNJ1):c.2146-12C>G
|
|
|
|
NM_203446.3(SYNJ1):c.2169C>T (p.Asp723=)
|
|
|
|
NM_203446.3(SYNJ1):c.2196C>T (p.Asn732=)
|
|
|
|
NM_203446.3(SYNJ1):c.219T>A (p.Thr73=)
|
|
|
|
NM_203446.3(SYNJ1):c.219T>C (p.Thr73=)
|
|
|
|
NM_203446.3(SYNJ1):c.2211C>G (p.Leu737=)
|
|
|
|
NM_203446.3(SYNJ1):c.2211C>T (p.Leu737=)
|
|
|
|
NM_203446.3(SYNJ1):c.2277A>G (p.Gln759=)
|
|
|
|
NM_203446.3(SYNJ1):c.2298T>C (p.Ala766=)
|
|
|
|
NM_203446.3(SYNJ1):c.2304+15G>C
|
|
|
|
NM_203446.3(SYNJ1):c.2304+17_2304+20del
|
|
|
|
NM_203446.3(SYNJ1):c.2305-15A>G
|
|
|
|
NM_203446.3(SYNJ1):c.2305-17G>C
|
|
|
|
NM_203446.3(SYNJ1):c.231T>C (p.Tyr77=)
|
|
|
|
NM_203446.3(SYNJ1):c.2337C>G (p.Thr779=)
|
rs367656251
|
|
|
NM_203446.3(SYNJ1):c.2385C>G (p.Thr795=)
|
|
|
|
NM_203446.3(SYNJ1):c.2400C>T (p.Arg800=)
|
rs1429532362
|
|
|
NM_203446.3(SYNJ1):c.2406T>C (p.Pro802=)
|
|
|
|
NM_203446.3(SYNJ1):c.2421T>C (p.Arg807=)
|
|
|
|
NM_203446.3(SYNJ1):c.2462-19T>C
|
rs2145854148
|
|
|
NM_203446.3(SYNJ1):c.2462-5T>C
|
|
|
|
NM_203446.3(SYNJ1):c.2462-6C>A
|
rs1601309850
|
|
|
NM_203446.3(SYNJ1):c.2472A>C (p.Leu824=)
|
rs1601309726
|
|
|
NM_203446.3(SYNJ1):c.249A>T (p.Gly83=)
|
|
|
|
NM_203446.3(SYNJ1):c.24G>T (p.Arg8=)
|
rs2146433761
|
|
|
NM_203446.3(SYNJ1):c.2514G>C (p.Leu838=)
|
rs1367273913
|
|
|
NM_203446.3(SYNJ1):c.2529A>C (p.Pro843=)
|
|
|
|
NM_203446.3(SYNJ1):c.2541_2542delinsTT (p.His848Tyr)
|
rs1601309236
|
|
|
NM_203446.3(SYNJ1):c.2547T>C (p.Tyr849=)
|
rs61756207
|
|
|
NM_203446.3(SYNJ1):c.2579+14C>G
|
|
|
|
NM_203446.3(SYNJ1):c.2579+14_2579+15del
|
rs2040484641
|
|
|
NM_203446.3(SYNJ1):c.2580-14C>T
|
rs2145852326
|
|
|
NM_203446.3(SYNJ1):c.2580-20A>C
|
|
|
|
NM_203446.3(SYNJ1):c.2580-7C>T
|
rs2040478967
|
|
|
NM_203446.3(SYNJ1):c.2580-9T>C
|
rs1601308461
|
|
|
NM_203446.3(SYNJ1):c.2586C>G (p.Val862=)
|
|
|
|
NM_203446.3(SYNJ1):c.258T>C (p.Ser86=)
|
|
|
|
NM_203446.3(SYNJ1):c.258T>G (p.Ser86=)
|
|
|
|
NM_203446.3(SYNJ1):c.2607T>C (p.Asp869=)
|
rs2145851928
|
|
|
NM_203446.3(SYNJ1):c.2658T>C (p.Ile886=)
|
|
|
|
NM_203446.3(SYNJ1):c.2685A>T (p.Thr895=)
|
rs939655575
|
|
|
NM_203446.3(SYNJ1):c.2733T>C (p.Asp911=)
|
|
|
|
NM_203446.3(SYNJ1):c.2736T>C (p.Asp912=)
|
|
|
|
NM_203446.3(SYNJ1):c.2757G>T (p.Leu919=)
|
rs2145850907
|
|
|
NM_203446.3(SYNJ1):c.2766T>C (p.Phe922=)
|
rs1479701930
|
|
|
NM_203446.3(SYNJ1):c.2781A>G (p.Glu927=)
|
rs1350091132
|
|
|
NM_203446.3(SYNJ1):c.2795+16T>C
|
|
|
|
NM_203446.3(SYNJ1):c.2795+20A>G
|
|
|
|
NM_203446.3(SYNJ1):c.2802A>G (p.Val934=)
|
rs1250410568
|
|
|
NM_203446.3(SYNJ1):c.2875-15_2875-14del
|
|
|
|
NM_203446.3(SYNJ1):c.2875-17C>G
|
|
|
|
NM_203446.3(SYNJ1):c.2877A>G (p.Leu959=)
|
|
|
|
NM_203446.3(SYNJ1):c.297T>C (p.Thr99=)
|
|
|
|
NM_203446.3(SYNJ1):c.2991C>T (p.Thr997=)
|
|
|
|
NM_203446.3(SYNJ1):c.2994G>A (p.Leu998=)
|
rs2145809247
|
|
|
NM_203446.3(SYNJ1):c.300C>T (p.Ser100=)
|
|
|
|
NM_203446.3(SYNJ1):c.3015T>C (p.Val1005=)
|
rs2145809068
|
|
|
NM_203446.3(SYNJ1):c.3018A>G (p.Ala1006=)
|
|
|
|
NM_203446.3(SYNJ1):c.3038-12G>A
|
|
|
|
NM_203446.3(SYNJ1):c.3054T>C (p.Tyr1018=)
|
|
|
|
NM_203446.3(SYNJ1):c.3060T>A (p.Ala1020=)
|
|
|
|
NM_203446.3(SYNJ1):c.319C>A (p.Arg107=)
|
|
|
|
NM_203446.3(SYNJ1):c.3216G>A (p.Pro1072=)
|
|
|
|
NM_203446.3(SYNJ1):c.3237C>G (p.Pro1079=)
|
|
|
|
NM_203446.3(SYNJ1):c.3237C>T (p.Pro1079=)
|
|
|
|
NM_203446.3(SYNJ1):c.3248-12T>C
|
|
|
|
NM_203446.3(SYNJ1):c.3248-15C>A
|
|
|
|
NM_203446.3(SYNJ1):c.3248-16_3248-14del
|
|
|
|
NM_203446.3(SYNJ1):c.3248-19C>T
|
rs2145777077
|
|
|
NM_203446.3(SYNJ1):c.3248-21_3248-19del
|
|
|
|
NM_203446.3(SYNJ1):c.3248-4T>C
|
|
|
|
NM_203446.3(SYNJ1):c.3248-6T>C
|
|
|
|
NM_203446.3(SYNJ1):c.3248-6T>G
|
rs567223330
|
|
|
NM_203446.3(SYNJ1):c.3248-9G>A
|
|
|
|
NM_203446.3(SYNJ1):c.3252T>G (p.Ser1084=)
|
|
|
|
NM_203446.3(SYNJ1):c.3270A>C (p.Pro1090=)
|
|
|
|
NM_203446.3(SYNJ1):c.3273A>G (p.Ala1091=)
|
|
|
|
NM_203446.3(SYNJ1):c.3285G>A (p.Pro1095=)
|
rs376395608
|
|
|
NM_203446.3(SYNJ1):c.3285G>T (p.Pro1095=)
|
rs376395608
|
|
|
NM_203446.3(SYNJ1):c.3303G>A (p.Gln1101=)
|
|
|
|
NM_203446.3(SYNJ1):c.3357C>T (p.Arg1119=)
|
rs1601259728
|
|
|
NM_203446.3(SYNJ1):c.3360G>A (p.Pro1120=)
|
|
|
|
NM_203446.3(SYNJ1):c.3363T>C (p.Ala1121=)
|
|
|
|
NM_203446.3(SYNJ1):c.3369A>C (p.Pro1123=)
|
rs368850131
|
|
|
NM_203446.3(SYNJ1):c.3391+8C>T
|
rs779010105
|
|
|
NM_203446.3(SYNJ1):c.3392-10G>C
|
rs2145769480
|
|
|
NM_203446.3(SYNJ1):c.3392-12A>G
|
|
|
|
NM_203446.3(SYNJ1):c.3392-13T>C
|
|
|
|
NM_203446.3(SYNJ1):c.3392-4T>C
|
|
|
|
NM_203446.3(SYNJ1):c.3392-5A>T
|
rs776721216
|
|
|
NM_203446.3(SYNJ1):c.3393G>A (p.Gly1131=)
|
rs1057304410
|
|
|
NM_203446.3(SYNJ1):c.3396T>C (p.Ala1132=)
|
rs1220663745
|
|
|
NM_203446.3(SYNJ1):c.3411C>T (p.Pro1137=)
|
rs1162976890
|
|
|
NM_203446.3(SYNJ1):c.3431-11del
|
|
|
|
NM_203446.3(SYNJ1):c.3431-6A>G
|
rs1017765033
|
|
|
NM_203446.3(SYNJ1):c.3456G>C (p.Gly1152=)
|
rs2145756410
|
|
|
NM_203446.3(SYNJ1):c.3459A>G (p.Val1153=)
|
|
|
|
NM_203446.3(SYNJ1):c.345C>T (p.Arg115=)
|
|
|
|
NM_203446.3(SYNJ1):c.3478+12C>T
|
rs2145756030
|
|
|
NM_203446.3(SYNJ1):c.3478+13T>C
|
|
|
|
NM_203446.3(SYNJ1):c.3478+16C>G
|
|
|
|
NM_203446.3(SYNJ1):c.3478+17A>G
|
|
|
|
NM_203446.3(SYNJ1):c.3478+9A>T
|
|
|
|
NM_203446.3(SYNJ1):c.3479-14T>C
|
rs2039869790
|
|
|
NM_203446.3(SYNJ1):c.3479-18T>C
|
|
|
|
NM_203446.3(SYNJ1):c.3489C>T (p.Ser1163=)
|
rs2039868331
|
|
|
NM_203446.3(SYNJ1):c.3507A>G (p.Lys1169=)
|
|
|
|
NM_203446.3(SYNJ1):c.3517+7A>G
|
rs2145744971
|
|
|
NM_203446.3(SYNJ1):c.3518-18A>G
|
|
|
|
NM_203446.3(SYNJ1):c.3518-20A>G
|
|
|
|
NM_203446.3(SYNJ1):c.3518-9T>C
|
rs2039859473
|
|
|
NM_203446.3(SYNJ1):c.3558A>T (p.Pro1186=)
|
rs755614050
|
|
|
NM_203446.3(SYNJ1):c.3585A>G (p.Arg1195=)
|
rs1404447301
|
|
|
NM_203446.3(SYNJ1):c.3588+15G>C
|
|
|
|
NM_203446.3(SYNJ1):c.3588+7A>G
|
rs990106590
|
|
|
NM_203446.3(SYNJ1):c.3589-16T>C
|
rs369384628
|
|
|
NM_203446.3(SYNJ1):c.3589-16T>G
|
rs369384628
|
|
|
NM_203446.3(SYNJ1):c.3589-17dup
|
|
|
|
NM_203446.3(SYNJ1):c.3589-4G>A
|
|
|
|
NM_203446.3(SYNJ1):c.3589-8A>T
|
rs2145726735
|
|
|
NM_203446.3(SYNJ1):c.3657G>A (p.Leu1219=)
|
|
|
|
NM_203446.3(SYNJ1):c.3663T>G (p.Pro1221=)
|
|
|
|
NM_203446.3(SYNJ1):c.3690G>A (p.Thr1230=)
|
rs1446522492
|
|
|
NM_203446.3(SYNJ1):c.3697+15G>A
|
|
|
|
NM_203446.3(SYNJ1):c.3697+8C>T
|
rs2145725329
|
|
|
NM_203446.3(SYNJ1):c.3698-12C>T
|
|
|
|
NM_203446.3(SYNJ1):c.3698-13A>G
|
|
|
|
NM_203446.3(SYNJ1):c.3698-15C>T
|
|
|
|
NM_203446.3(SYNJ1):c.3698-19A>G
|
|
|
|
NM_203446.3(SYNJ1):c.3714T>G (p.Pro1238=)
|
rs2145720898
|
|
|
NM_203446.3(SYNJ1):c.3721C>A (p.Leu1241Met)
|
rs2230766
|
|
|
NM_203446.3(SYNJ1):c.3747G>A (p.Pro1249=)
|
rs138579227
|
|
|
NM_203446.3(SYNJ1):c.3747G>C (p.Pro1249=)
|
|
|
|
NM_203446.3(SYNJ1):c.3747G>T (p.Pro1249=)
|
rs138579227
|
|
|
NM_203446.3(SYNJ1):c.3756T>C (p.Ser1252=)
|
|
|
|
NM_203446.3(SYNJ1):c.3783A>G (p.Gln1261=)
|
rs1601231568
|
|
|
NM_203446.3(SYNJ1):c.3846C>G (p.Thr1282=)
|
|
|
|
NM_203446.3(SYNJ1):c.3879C>G (p.Ser1293=)
|
rs1601230798
|
|
|
NM_203446.3(SYNJ1):c.387T>C (p.Tyr129=)
|
rs2042340576
|
|
|
NM_203446.3(SYNJ1):c.3912G>A (p.Pro1304=)
|
rs372695378
|
|
|
NM_203446.3(SYNJ1):c.3912G>T (p.Pro1304=)
|
rs372695378
|
|
|
NM_203446.3(SYNJ1):c.3915+18C>A
|
|
|
|
NM_203446.3(SYNJ1):c.3915+20C>G
|
|
|
|
NM_203446.3(SYNJ1):c.3915+20C>T
|
|
|
|
NM_203446.3(SYNJ1):c.3915+7C>G
|
rs2145719045
|
|
|
NM_203446.3(SYNJ1):c.393A>G (p.Ala131=)
|
|
|
|
NM_203446.3(SYNJ1):c.429T>C (p.Leu143=)
|
rs2146212579
|
|
|
NM_203446.3(SYNJ1):c.435G>T (p.Ala145=)
|
rs151248057
|
|
|
NM_203446.3(SYNJ1):c.450A>G (p.Gln150=)
|
|
|
|
NM_203446.3(SYNJ1):c.453A>G (p.Glu151=)
|
|
|
|
NM_203446.3(SYNJ1):c.479+13T>A
|
rs1684291610
|
|
|
NM_203446.3(SYNJ1):c.479+17C>T
|
|
|
|
NM_203446.3(SYNJ1):c.480-18T>A
|
|
|
|
NM_203446.3(SYNJ1):c.480-5A>G
|
rs1001176616
|
|
|
NM_203446.3(SYNJ1):c.516C>T (p.Gly172=)
|
|
|
|
NM_203446.3(SYNJ1):c.537A>G (p.Leu179=)
|
rs2146174688
|
|
|
NM_203446.3(SYNJ1):c.540A>G (p.Leu180=)
|
|
|
|
NM_203446.3(SYNJ1):c.552T>C (p.Cys184=)
|
|
|
|
NM_203446.3(SYNJ1):c.561A>G (p.Val187=)
|
|
|
|
NM_203446.3(SYNJ1):c.576T>A (p.Ile192=)
|
|
|
|
NM_203446.3(SYNJ1):c.609C>T (p.Leu203=)
|
|
|
|
NM_203446.3(SYNJ1):c.63A>T (p.Ile21=)
|
|
|
|
NM_203446.3(SYNJ1):c.654C>G (p.Val218=)
|
|
|
|
NM_203446.3(SYNJ1):c.702A>G (p.Glu234=)
|
|
|
|
NM_203446.3(SYNJ1):c.705+8T>C
|
|
|
|
NM_203446.3(SYNJ1):c.705+9A>G
|
rs2042154034
|
|
|
NM_203446.3(SYNJ1):c.706-13T>A
|
|
|
|
NM_203446.3(SYNJ1):c.706-15T>C
|
|
|
|
NM_203446.3(SYNJ1):c.706-16del
|
|
|
|
NM_203446.3(SYNJ1):c.750A>G (p.Arg250=)
|
|
|
|
NM_203446.3(SYNJ1):c.759T>G (p.Val253=)
|
rs111290161
|
|
|
NM_203446.3(SYNJ1):c.762A>G (p.Pro254=)
|
rs2146165828
|
|
|
NM_203446.3(SYNJ1):c.783G>A (p.Gly261=)
|
|
|
|
NM_203446.3(SYNJ1):c.789+10T>C
|
rs1601446146
|
|
|
NM_203446.3(SYNJ1):c.789+20T>C
|
|
|
|
NM_203446.3(SYNJ1):c.789+8_789+11del
|
rs751922511
|
|
|
NM_203446.3(SYNJ1):c.790-14T>G
|
|
|
|
NM_203446.3(SYNJ1):c.807C>G (p.Val269=)
|
|
|
|
NM_203446.3(SYNJ1):c.851+10T>C
|
rs745840084
|
|
|
NM_203446.3(SYNJ1):c.851+15A>G
|
|
|
|
NM_203446.3(SYNJ1):c.851G>A (p.Arg284Lys)
|
rs565013600
|
|
|
NM_203446.3(SYNJ1):c.852-10_852-7del
|
rs764989740
|
|
|
NM_203446.3(SYNJ1):c.852-16T>C
|
|
|
|
NM_203446.3(SYNJ1):c.852-20T>C
|
rs1436283724
|
|
|
NM_203446.3(SYNJ1):c.864A>G (p.Thr288=)
|
|
|
|
NM_203446.3(SYNJ1):c.876A>G (p.Leu292=)
|
|
|
|
NM_203446.3(SYNJ1):c.883A>C (p.Lys295Gln)
|
rs554456240
|
|
|
NM_203446.3(SYNJ1):c.918A>G (p.Glu306=)
|
|
|
|
NM_203446.3(SYNJ1):c.942T>G (p.Ala314=)
|
|
|
|
NM_203446.3(SYNJ1):c.949-15C>T
|
rs371013716
|
|
|
NM_203446.3(SYNJ1):c.949-31_949-2del
|
rs1281313151
|
|
|
NM_203446.3(SYNJ1):c.949-7C>T
|
|
|
|
NM_203446.3(SYNJ1):c.969A>G (p.Glu323=)
|
rs1601418926
|
|