NM_001256789.3(CACNA1F):c.3276C>T (p.His1092=)
|
rs2075866
|
0.52573
|
NM_001256789.3(CACNA1F):c.5756G>A (p.Arg1919His)
|
rs33910054
|
0.06102
|
NM_001256789.3(CACNA1F):c.41C>T (p.Pro14Leu)
|
rs6520408
|
0.05244
|
NM_001256789.3(CACNA1F):c.2673+3G>A
|
rs41312124
|
0.04106
|
NM_001256789.3(CACNA1F):c.1523G>A (p.Arg508Gln)
|
rs34162630
|
0.01756
|
NM_001256789.3(CACNA1F):c.3742G>A (p.Ala1248Thr)
|
rs34308720
|
0.00444
|
NM_001256789.3(CACNA1F):c.5048G>A (p.Gly1683Glu)
|
rs147329320
|
0.00436
|
NM_001256789.3(CACNA1F):c.5829C>T (p.Asp1943=)
|
rs138189763
|
0.00415
|
NM_001256789.3(CACNA1F):c.2733+15C>T
|
rs199570194
|
0.00259
|
NM_001256789.3(CACNA1F):c.1870G>A (p.Val624Ile)
|
rs141010716
|
0.00227
|
NM_001256789.3(CACNA1F):c.5700T>C (p.Phe1900=)
|
rs143269092
|
0.00227
|
NM_001256789.3(CACNA1F):c.3651C>T (p.Val1217=)
|
rs150205903
|
0.00216
|
NM_001256789.3(CACNA1F):c.3439-18C>T
|
rs199764042
|
0.00179
|
NM_001256789.3(CACNA1F):c.2204A>C (p.Asn735Thr)
|
rs141159097
|
0.00176
|
NM_001256789.3(CACNA1F):c.885C>T (p.Asn295=)
|
rs199749384
|
0.00107
|
NM_001256789.3(CACNA1F):c.5577C>T (p.Gly1859=)
|
rs141521080
|
0.00088
|
NM_001256789.3(CACNA1F):c.2764G>A (p.Gly922Ser)
|
rs149685267
|
0.00086
|
NM_001256789.3(CACNA1F):c.827C>T (p.Ala276Val)
|
rs184711457
|
0.00082
|
NM_001256789.3(CACNA1F):c.811G>A (p.Gly271Arg)
|
rs185809548
|
0.00065
|
NM_001256789.3(CACNA1F):c.3930C>A (p.Ile1310=)
|
rs144131971
|
0.00064
|
NM_001256789.3(CACNA1F):c.1435G>A (p.Gly479Arg)
|
rs201059988
|
0.00063
|
NM_001256789.3(CACNA1F):c.1286T>C (p.Leu429Pro)
|
rs141155959
|
0.00060
|
NM_001256789.3(CACNA1F):c.1979C>G (p.Ser660Cys)
|
rs143938580
|
0.00056
|
NM_001256789.3(CACNA1F):c.3741C>T (p.Asp1247=)
|
rs199504022
|
0.00043
|
NM_001256789.3(CACNA1F):c.3389G>A (p.Arg1130His)
|
rs34856175
|
0.00038
|
NM_001256789.3(CACNA1F):c.904C>T (p.Arg302Cys)
|
rs139612152
|
0.00032
|
NM_001256789.3(CACNA1F):c.4085T>C (p.Val1362Ala)
|
rs200903890
|
0.00031
|
NM_001256789.3(CACNA1F):c.5763G>A (p.Thr1921=)
|
rs190606884
|
0.00027
|
NM_001256789.3(CACNA1F):c.3236+3G>A
|
rs199932603
|
0.00019
|
NM_001256789.3(CACNA1F):c.3438+10G>A
|
rs199912425
|
0.00019
|
NM_001256789.3(CACNA1F):c.761T>C (p.Ile254Thr)
|
rs202029187
|
0.00018
|
NM_001256789.3(CACNA1F):c.1935C>T (p.Ile645=)
|
rs151256170
|
0.00017
|
NM_001256789.3(CACNA1F):c.4179C>T (p.Phe1393=)
|
rs376959397
|
0.00017
|
NM_001256789.3(CACNA1F):c.4222G>A (p.Ala1408Thr)
|
rs782741094
|
0.00017
|
NM_001256789.3(CACNA1F):c.4953+9A>G
|
rs370122978
|
0.00017
|
NM_001256789.3(CACNA1F):c.5160A>G (p.Glu1720=)
|
rs377447461
|
0.00017
|
NM_001256789.3(CACNA1F):c.63C>A (p.Gly21=)
|
rs782372812
|
0.00015
|
NM_001256789.3(CACNA1F):c.141C>A (p.Thr47=)
|
rs146718502
|
0.00014
|
NM_001256789.3(CACNA1F):c.2635G>A (p.Ala879Thr)
|
rs782464083
|
0.00014
|
NM_001256789.3(CACNA1F):c.3833G>A (p.Arg1278His)
|
rs782330306
|
0.00014
|
NM_001256789.3(CACNA1F):c.3708+13del
|
rs782171992
|
0.00013
|
NM_001256789.3(CACNA1F):c.5846C>T (p.Ser1949Phe)
|
rs373041656
|
0.00013
|
NM_001256789.3(CACNA1F):c.1537C>T (p.Arg513Trp)
|
rs142532762
|
0.00012
|
NM_001256789.3(CACNA1F):c.1932C>T (p.Ser644=)
|
rs370393709
|
0.00012
|
NM_001256789.3(CACNA1F):c.3993C>T (p.Ala1331=)
|
rs140353265
|
0.00012
|
NM_001256789.3(CACNA1F):c.3090-9C>T
|
rs370222259
|
0.00011
|
NM_001256789.3(CACNA1F):c.3708+7C>T
|
rs782716515
|
0.00011
|
NM_001256789.3(CACNA1F):c.4142G>A (p.Ser1381Asn)
|
rs142157495
|
0.00011
|
NM_001256789.3(CACNA1F):c.5336G>A (p.Arg1779His)
|
rs781946990
|
0.00011
|
NM_001256789.3(CACNA1F):c.1014+6G>A
|
rs782069549
|
0.00010
|
NM_001256789.3(CACNA1F):c.1087G>A (p.Val363Ile)
|
rs782540789
|
0.00010
|
NM_001256789.3(CACNA1F):c.3256G>A (p.Asp1086Asn)
|
rs141623820
|
0.00009
|
NM_001256789.3(CACNA1F):c.4985G>A (p.Arg1662Gln)
|
rs202214415
|
0.00009
|
NM_001256789.3(CACNA1F):c.5171C>T (p.Ser1724Phe)
|
rs373546782
|
0.00009
|
NM_001256789.3(CACNA1F):c.5261C>A (p.Thr1754Asn)
|
rs782291247
|
0.00009
|
NM_001256789.3(CACNA1F):c.5757C>T (p.Arg1919=)
|
rs782363797
|
0.00009
|
NM_001256789.3(CACNA1F):c.5827G>A (p.Asp1943Asn)
|
rs374663693
|
0.00009
|
NM_001256789.3(CACNA1F):c.842C>T (p.Ser281Leu)
|
rs149735591
|
0.00009
|
NM_001256789.3(CACNA1F):c.90C>T (p.Pro30=)
|
rs782095705
|
0.00009
|
NM_001256789.3(CACNA1F):c.175A>G (p.Thr59Ala)
|
rs782151803
|
0.00008
|
NM_001256789.3(CACNA1F):c.1841G>A (p.Arg614Gln)
|
rs782123232
|
0.00008
|
NM_001256789.3(CACNA1F):c.2055G>A (p.Thr685=)
|
rs782147268
|
0.00008
|
NM_001256789.3(CACNA1F):c.2673+19G>A
|
rs368052469
|
0.00008
|
NM_001256789.3(CACNA1F):c.3089+3G>C
|
rs781847250
|
0.00008
|
NM_001256789.3(CACNA1F):c.3236C>T (p.Ala1079Val)
|
rs370329845
|
0.00008
|
NM_001256789.3(CACNA1F):c.5333G>A (p.Arg1778His)
|
rs201649938
|
0.00008
|
NM_001256789.3(CACNA1F):c.582G>A (p.Gly194=)
|
rs782731379
|
0.00008
|
NM_001256789.3(CACNA1F):c.1037A>G (p.Glu346Gly)
|
rs782197348
|
0.00007
|
NM_001256789.3(CACNA1F):c.1156G>A (p.Gly386Arg)
|
rs782315613
|
0.00007
|
NM_001256789.3(CACNA1F):c.1596G>A (p.Thr532=)
|
rs200019074
|
0.00007
|
NM_001256789.3(CACNA1F):c.186G>A (p.Val62=)
|
rs781816140
|
0.00007
|
NM_001256789.3(CACNA1F):c.1936G>A (p.Ala646Thr)
|
rs986816548
|
0.00007
|
NM_001256789.3(CACNA1F):c.3061G>A (p.Glu1021Lys)
|
rs200976011
|
0.00007
|
NM_001256789.3(CACNA1F):c.3633G>T (p.Met1211Ile)
|
rs138798541
|
0.00007
|
NM_001256789.3(CACNA1F):c.4982G>A (p.Arg1661His)
|
rs781810644
|
0.00007
|
NM_001256789.3(CACNA1F):c.953T>C (p.Phe318Ser)
|
rs201174690
|
0.00007
|
NM_001256789.3(CACNA1F):c.1175G>A (p.Arg392Gln)
|
rs782650423
|
0.00006
|
NM_001256789.3(CACNA1F):c.1287G>A (p.Leu429=)
|
rs371314274
|
0.00006
|
NM_001256789.3(CACNA1F):c.1382C>T (p.Ala461Val)
|
rs2272704
|
0.00006
|
NM_001256789.3(CACNA1F):c.142C>A (p.Pro48Thr)
|
rs782524571
|
0.00006
|
NM_001256789.3(CACNA1F):c.1493G>A (p.Arg498His)
|
rs782740156
|
0.00006
|
NM_001256789.3(CACNA1F):c.199C>T (p.Arg67Trp)
|
rs200079715
|
0.00006
|
NM_001256789.3(CACNA1F):c.2289-6G>A
|
rs190495513
|
0.00006
|
NM_001256789.3(CACNA1F):c.2666G>A (p.Arg889His)
|
rs139263092
|
0.00006
|
NM_001256789.3(CACNA1F):c.2848G>A (p.Ala950Thr)
|
rs369730240
|
0.00006
|
NM_001256789.3(CACNA1F):c.3140G>A (p.Arg1047Gln)
|
rs373254725
|
0.00006
|
NM_001256789.3(CACNA1F):c.370A>G (p.Asn124Asp)
|
rs367849166
|
0.00006
|
NM_001256789.3(CACNA1F):c.4132A>T (p.Met1378Leu)
|
rs1418215990
|
0.00006
|
NM_001256789.3(CACNA1F):c.7G>C (p.Glu3Gln)
|
rs1369614087
|
0.00006
|
NM_001256789.3(CACNA1F):c.1276+26G>A
|
rs146199637
|
0.00005
|
NM_001256789.3(CACNA1F):c.1276+8G>T
|
rs996437920
|
0.00005
|
NM_001256789.3(CACNA1F):c.1576T>C (p.Leu526=)
|
rs920361849
|
0.00005
|
NM_001256789.3(CACNA1F):c.1810G>A (p.Ala604Thr)
|
rs150417702
|
0.00005
|
NM_001256789.3(CACNA1F):c.1814T>A (p.Met605Lys)
|
rs994796420
|
0.00005
|
NM_001256789.3(CACNA1F):c.2182A>G (p.Ile728Val)
|
rs782794008
|
0.00005
|
NM_001256789.3(CACNA1F):c.2207-17G>A
|
rs377479639
|
0.00005
|
NM_001256789.3(CACNA1F):c.2777G>A (p.Arg926His)
|
rs782092924
|
0.00005
|
NM_001256789.3(CACNA1F):c.3237-10G>A
|
rs371955079
|
0.00005
|
NM_001256789.3(CACNA1F):c.3438+20C>A
|
rs376277147
|
0.00005
|
NM_001256789.3(CACNA1F):c.3813G>A (p.Glu1271=)
|
rs782341544
|
0.00005
|
NM_001256789.3(CACNA1F):c.4100+15C>G
|
rs200285602
|
0.00005
|
NM_001256789.3(CACNA1F):c.5232-3C>T
|
rs369747505
|
0.00005
|
NM_001256789.3(CACNA1F):c.5232G>A (p.Arg1744=)
|
rs782598962
|
0.00005
|
NM_001256789.3(CACNA1F):c.5233C>T (p.Leu1745Phe)
|
rs782428735
|
0.00005
|
NM_001256789.3(CACNA1F):c.91G>A (p.Gly31Arg)
|
rs782426237
|
0.00005
|
NM_001256789.3(CACNA1F):c.992G>C (p.Gly331Ala)
|
rs782295388
|
0.00005
|
NM_001256789.3(CACNA1F):c.1434G>A (p.Glu478=)
|
rs1271043136
|
0.00004
|
NM_001256789.3(CACNA1F):c.1751G>A (p.Arg584His)
|
rs781913575
|
0.00004
|
NM_001256789.3(CACNA1F):c.1783C>T (p.Leu595=)
|
rs782214934
|
0.00004
|
NM_001256789.3(CACNA1F):c.2110G>A (p.Val704Met)
|
rs202122178
|
0.00004
|
NM_001256789.3(CACNA1F):c.2634C>T (p.Ala878=)
|
rs782411375
|
0.00004
|
NM_001256789.3(CACNA1F):c.2928+10C>A
|
rs372686339
|
0.00004
|
NM_001256789.3(CACNA1F):c.2959C>A (p.Arg987=)
|
rs782512273
|
0.00004
|
NM_001256789.3(CACNA1F):c.2960G>A (p.Arg987Gln)
|
rs782241013
|
0.00004
|
NM_001256789.3(CACNA1F):c.2967C>T (p.Ile989=)
|
rs782088470
|
0.00004
|
NM_001256789.3(CACNA1F):c.3372C>T (p.Phe1124=)
|
rs782728123
|
0.00004
|
NM_001256789.3(CACNA1F):c.4021G>A (p.Val1341Met)
|
rs1449089841
|
0.00004
|
NM_001256789.3(CACNA1F):c.4074T>C (p.Phe1358=)
|
rs782308217
|
0.00004
|
NM_001256789.3(CACNA1F):c.426G>A (p.Thr142=)
|
rs375250604
|
0.00004
|
NM_001256789.3(CACNA1F):c.5369C>T (p.Pro1790Leu)
|
rs368843924
|
0.00004
|
NM_001256789.3(CACNA1F):c.5505G>C (p.Arg1835=)
|
rs1431202521
|
0.00004
|
NM_001256789.3(CACNA1F):c.5560C>A (p.Leu1854Ile)
|
rs782383890
|
0.00004
|
NM_001256789.3(CACNA1F):c.5562C>T (p.Leu1854=)
|
rs782234292
|
0.00004
|
NM_001256789.3(CACNA1F):c.5713C>T (p.Arg1905Cys)
|
rs372947982
|
0.00004
|
NM_001256789.3(CACNA1F):c.5848C>T (p.Arg1950Cys)
|
rs369122296
|
0.00004
|
NM_001256789.3(CACNA1F):c.5863G>A (p.Asp1955Asn)
|
rs376042913
|
0.00004
|
NM_001256789.3(CACNA1F):c.662C>G (p.Pro221Arg)
|
rs782377005
|
0.00004
|
NM_001256789.3(CACNA1F):c.795G>C (p.Lys265Asn)
|
rs145632023
|
0.00004
|
NM_001256789.3(CACNA1F):c.859G>C (p.Gly287Arg)
|
rs956567167
|
0.00004
|
NM_001256789.3(CACNA1F):c.1315C>T (p.Arg439Cys)
|
rs782649560
|
0.00003
|
NM_001256789.3(CACNA1F):c.1322G>A (p.Arg441His)
|
rs1234852260
|
0.00003
|
NM_001256789.3(CACNA1F):c.1513C>G (p.Arg505Gly)
|
rs782202134
|
0.00003
|
NM_001256789.3(CACNA1F):c.1528C>T (p.Arg510Cys)
|
rs139331137
|
0.00003
|
NM_001256789.3(CACNA1F):c.1538G>A (p.Arg513Gln)
|
rs782288797
|
0.00003
|
NM_001256789.3(CACNA1F):c.1586T>A (p.Phe529Tyr)
|
rs782119108
|
0.00003
|
NM_001256789.3(CACNA1F):c.1651+6C>T
|
rs372176200
|
0.00003
|
NM_001256789.3(CACNA1F):c.1717G>A (p.Gly573Ser)
|
rs782016284
|
0.00003
|
NM_001256789.3(CACNA1F):c.1904T>G (p.Val635Gly)
|
rs1297908497
|
0.00003
|
NM_001256789.3(CACNA1F):c.2019T>C (p.Phe673=)
|
rs1266984603
|
0.00003
|
NM_001256789.3(CACNA1F):c.209G>A (p.Arg70Gln)
|
rs781923569
|
0.00003
|
NM_001256789.3(CACNA1F):c.2283G>A (p.Lys761=)
|
rs781856621
|
0.00003
|
NM_001256789.3(CACNA1F):c.2366G>T (p.Gly789Val)
|
rs782102814
|
0.00003
|
NM_001256789.3(CACNA1F):c.2381G>A (p.Gly794Glu)
|
rs782175237
|
0.00003
|
NM_001256789.3(CACNA1F):c.2622T>C (p.Ser874=)
|
rs1248192343
|
0.00003
|
NM_001256789.3(CACNA1F):c.2665C>T (p.Arg889Cys)
|
rs144099880
|
0.00003
|
NM_001256789.3(CACNA1F):c.302C>T (p.Thr101Ile)
|
rs782006674
|
0.00003
|
NM_001256789.3(CACNA1F):c.3030C>T (p.Leu1010=)
|
rs2065734076
|
0.00003
|
NM_001256789.3(CACNA1F):c.3057G>A (p.Thr1019=)
|
rs782287148
|
0.00003
|
NM_001256789.3(CACNA1F):c.3060C>T (p.Asp1020=)
|
rs782655905
|
0.00003
|
NM_001256789.3(CACNA1F):c.3120C>T (p.Asp1040=)
|
rs782623110
|
0.00003
|
NM_001256789.3(CACNA1F):c.3373G>A (p.Val1125Ile)
|
rs782039374
|
0.00003
|
NM_001256789.3(CACNA1F):c.345C>G (p.Phe115Leu)
|
rs782406586
|
0.00003
|
NM_001256789.3(CACNA1F):c.3652T>C (p.Phe1218Leu)
|
rs910396299
|
0.00003
|
NM_001256789.3(CACNA1F):c.3777C>T (p.Ala1259=)
|
rs782573904
|
0.00003
|
NM_001256789.3(CACNA1F):c.3793-9T>G
|
rs373318574
|
0.00003
|
NM_001256789.3(CACNA1F):c.393G>A (p.Glu131=)
|
rs781861736
|
0.00003
|
NM_001256789.3(CACNA1F):c.3942+9C>T
|
rs375206258
|
0.00003
|
NM_001256789.3(CACNA1F):c.4014C>T (p.Phe1338=)
|
rs781909111
|
0.00003
|
NM_001256789.3(CACNA1F):c.4150G>A (p.Gly1384Arg)
|
rs370863603
|
0.00003
|
NM_001256789.3(CACNA1F):c.4255T>A (p.Phe1419Ile)
|
rs782178263
|
0.00003
|
NM_001256789.3(CACNA1F):c.4261-13C>T
|
rs375895700
|
0.00003
|
NM_001256789.3(CACNA1F):c.4429C>T (p.Arg1477Cys)
|
rs782266289
|
0.00003
|
NM_001256789.3(CACNA1F):c.4481G>T (p.Cys1494Phe)
|
rs782025685
|
0.00003
|
NM_001256789.3(CACNA1F):c.4485+18C>A
|
rs917142668
|
0.00003
|
NM_001256789.3(CACNA1F):c.475A>G (p.Ile159Val)
|
rs145391935
|
0.00003
|
NM_001256789.3(CACNA1F):c.4992C>T (p.Ser1664=)
|
rs371675126
|
0.00003
|
NM_001256789.3(CACNA1F):c.5104G>A (p.Ala1702Thr)
|
rs782384547
|
0.00003
|
NM_001256789.3(CACNA1F):c.5124-18G>A
|
rs370218215
|
0.00003
|
NM_001256789.3(CACNA1F):c.522-6C>G
|
rs1557111114
|
0.00003
|
NM_001256789.3(CACNA1F):c.5232-13C>T
|
rs781980345
|
0.00003
|
NM_001256789.3(CACNA1F):c.5302A>G (p.Arg1768Gly)
|
rs1409500928
|
0.00003
|
NM_001256789.3(CACNA1F):c.5447G>A (p.Arg1816Gln)
|
rs372426153
|
0.00003
|
NM_001256789.3(CACNA1F):c.5546C>T (p.Ala1849Val)
|
rs2856748
|
0.00003
|
NM_001256789.3(CACNA1F):c.5563G>A (p.Gly1855Ser)
|
rs367608150
|
0.00003
|
NM_001256789.3(CACNA1F):c.5621C>T (p.Ser1874Leu)
|
rs782129126
|
0.00003
|
NM_001256789.3(CACNA1F):c.5705G>A (p.Arg1902Gln)
|
rs868973320
|
0.00003
|
NM_001256789.3(CACNA1F):c.5721G>A (p.Val1907=)
|
rs781989357
|
0.00003
|
NM_001256789.3(CACNA1F):c.5854G>C (p.Asp1952His)
|
rs145627424
|
0.00003
|
NM_001256789.3(CACNA1F):c.1108G>A (p.Val370Ile)
|
rs782458308
|
0.00002
|
NM_001256789.3(CACNA1F):c.1146G>A (p.Ala382=)
|
rs782606252
|
0.00002
|
NM_001256789.3(CACNA1F):c.1291G>A (p.Glu431Lys)
|
rs367617777
|
0.00002
|
NM_001256789.3(CACNA1F):c.1329C>T (p.Phe443=)
|
rs1305423573
|
0.00002
|
NM_001256789.3(CACNA1F):c.1343G>A (p.Arg448His)
|
rs782571580
|
0.00002
|
NM_001256789.3(CACNA1F):c.1606G>A (p.Ala536Thr)
|
rs781923856
|
0.00002
|
NM_001256789.3(CACNA1F):c.1651+8C>G
|
rs956287715
|
0.00002
|
NM_001256789.3(CACNA1F):c.1677T>C (p.Cys559=)
|
rs782176930
|
0.00002
|
NM_001256789.3(CACNA1F):c.1750C>T (p.Arg584Cys)
|
rs928731868
|
0.00002
|
NM_001256789.3(CACNA1F):c.1772G>A (p.Cys591Tyr)
|
rs782273072
|
0.00002
|
NM_001256789.3(CACNA1F):c.1778G>A (p.Gly593Asp)
|
rs1557109497
|
0.00002
|
NM_001256789.3(CACNA1F):c.1824G>C (p.Leu608Phe)
|
rs1354810346
|
0.00002
|
NM_001256789.3(CACNA1F):c.1850G>A (p.Arg617His)
|
rs200585761
|
0.00002
|
NM_001256789.3(CACNA1F):c.19G>A (p.Gly7Arg)
|
rs938364029
|
0.00002
|
NM_001256789.3(CACNA1F):c.2039G>A (p.Arg680Gln)
|
rs781925366
|
0.00002
|
NM_001256789.3(CACNA1F):c.2206+9G>C
|
rs782717898
|
0.00002
|
NM_001256789.3(CACNA1F):c.2335-17C>T
|
rs781795127
|
0.00002
|
NM_001256789.3(CACNA1F):c.2395G>C (p.Glu799Gln)
|
rs1403532021
|
0.00002
|
NM_001256789.3(CACNA1F):c.2412A>G (p.Glu804=)
|
rs868954985
|
0.00002
|
NM_001256789.3(CACNA1F):c.2443G>A (p.Gly815Ser)
|
rs1427667561
|
0.00002
|
NM_001256789.3(CACNA1F):c.2444G>T (p.Gly815Val)
|
rs781938466
|
0.00002
|
NM_001256789.3(CACNA1F):c.248G>A (p.Arg83Gln)
|
rs782263474
|
0.00002
|
NM_001256789.3(CACNA1F):c.2730A>G (p.Leu910=)
|
rs146218276
|
0.00002
|
NM_001256789.3(CACNA1F):c.2733+3G>A
|
rs781949304
|
0.00002
|
NM_001256789.3(CACNA1F):c.275+14C>G
|
rs1196917086
|
0.00002
|
NM_001256789.3(CACNA1F):c.2761C>T (p.Arg921Cys)
|
rs782143409
|
0.00002
|
NM_001256789.3(CACNA1F):c.2929-4G>A
|
rs374658179
|
0.00002
|
NM_001256789.3(CACNA1F):c.2929-5C>T
|
rs782654962
|
0.00002
|
NM_001256789.3(CACNA1F):c.3342G>A (p.Ala1114=)
|
rs147312871
|
0.00002
|
NM_001256789.3(CACNA1F):c.3500C>T (p.Pro1167Leu)
|
rs782564122
|
0.00002
|
NM_001256789.3(CACNA1F):c.3581T>C (p.Val1194Ala)
|
rs782135065
|
0.00002
|
NM_001256789.3(CACNA1F):c.3598-4G>A
|
rs1172961692
|
0.00002
|
NM_001256789.3(CACNA1F):c.359C>G (p.Ser120Cys)
|
rs782044984
|
0.00002
|
NM_001256789.3(CACNA1F):c.3832C>T (p.Arg1278Cys)
|
rs781903207
|
0.00002
|
NM_001256789.3(CACNA1F):c.3895G>A (p.Gly1299Ser)
|
rs1041549749
|
0.00002
|
NM_001256789.3(CACNA1F):c.3994G>A (p.Val1332Ile)
|
rs151203138
|
0.00002
|
NM_001256789.3(CACNA1F):c.4009-12A>T
|
rs1413008696
|
0.00002
|
NM_001256789.3(CACNA1F):c.4081G>A (p.Ala1361Thr)
|
rs782156786
|
0.00002
|
NM_001256789.3(CACNA1F):c.4156C>T (p.Arg1386Trp)
|
rs782428223
|
0.00002
|
NM_001256789.3(CACNA1F):c.4221C>T (p.Ile1407=)
|
rs782587439
|
0.00002
|
NM_001256789.3(CACNA1F):c.4334C>A (p.Pro1445His)
|
rs782580575
|
0.00002
|
NM_001256789.3(CACNA1F):c.4388+16C>T
|
rs1384854797
|
0.00002
|
NM_001256789.3(CACNA1F):c.4485+13G>T
|
rs781854392
|
0.00002
|
NM_001256789.3(CACNA1F):c.4959G>A (p.Thr1653=)
|
rs1557105508
|
0.00002
|
NM_001256789.3(CACNA1F):c.4981C>T (p.Arg1661Cys)
|
rs781950119
|
0.00002
|
NM_001256789.3(CACNA1F):c.4988G>A (p.Gly1663Asp)
|
rs1013735849
|
0.00002
|
NM_001256789.3(CACNA1F):c.5263C>T (p.Pro1755Ser)
|
rs782658023
|
0.00002
|
NM_001256789.3(CACNA1F):c.5311G>A (p.Asp1771Asn)
|
rs1557105003
|
0.00002
|
NM_001256789.3(CACNA1F):c.5332C>T (p.Arg1778Cys)
|
rs781892709
|
0.00002
|
NM_001256789.3(CACNA1F):c.5386T>C (p.Cys1796Arg)
|
rs374789196
|
0.00002
|
NM_001256789.3(CACNA1F):c.5504G>A (p.Arg1835Gln)
|
rs782177944
|
0.00002
|
NM_001256789.3(CACNA1F):c.5541C>T (p.Gly1847=)
|
rs782486989
|
0.00002
|
NM_001256789.3(CACNA1F):c.5542G>A (p.Ala1848Thr)
|
rs1557104729
|
0.00002
|
NM_001256789.3(CACNA1F):c.5604C>T (p.His1868=)
|
rs782728310
|
0.00002
|
NM_001256789.3(CACNA1F):c.564C>T (p.Gly188=)
|
rs112730838
|
0.00002
|
NM_001256789.3(CACNA1F):c.5714G>A (p.Arg1905His)
|
rs371119362
|
0.00002
|
NM_001256789.3(CACNA1F):c.5874C>T (p.Asp1958=)
|
rs782497299
|
0.00002
|
NM_001256789.3(CACNA1F):c.613T>C (p.Leu205=)
|
rs782796391
|
0.00002
|
NM_001256789.3(CACNA1F):c.729C>T (p.Leu243=)
|
rs2065864565
|
0.00002
|
NM_001256789.3(CACNA1F):c.72C>T (p.Pro24=)
|
rs1333828481
|
0.00002
|
NM_001256789.3(CACNA1F):c.955G>A (p.Ala319Thr)
|
rs146010954
|
0.00002
|
NM_001256789.3(CACNA1F):c.959T>C (p.Met320Thr)
|
rs1483505491
|
0.00002
|
NM_001256789.3(CACNA1F):c.999C>T (p.Thr333=)
|
rs368889583
|
0.00002
|
NM_001256789.3(CACNA1F):c.101C>A (p.Ala34Asp)
|
rs1482928352
|
0.00001
|
NM_001256789.3(CACNA1F):c.1044C>T (p.Pro348=)
|
rs782609341
|
0.00001
|
NM_001256789.3(CACNA1F):c.1107C>T (p.Gly369=)
|
rs782706571
|
0.00001
|
NM_001256789.3(CACNA1F):c.1118+3G>A
|
rs1557110403
|
0.00001
|
NM_001256789.3(CACNA1F):c.1153C>T (p.Arg385Cys)
|
rs1443829899
|
0.00001
|
NM_001256789.3(CACNA1F):c.1167G>A (p.Gln389=)
|
rs782609777
|
0.00001
|
NM_001256789.3(CACNA1F):c.1260C>T (p.Ser420=)
|
rs369146932
|
0.00001
|
NM_001256789.3(CACNA1F):c.1266T>C (p.Asp422=)
|
rs782349207
|
0.00001
|
NM_001256789.3(CACNA1F):c.1276+25C>T
|
rs1360293270
|
0.00001
|
NM_001256789.3(CACNA1F):c.1276+33C>T
|
rs1557110142
|
0.00001
|
NM_001256789.3(CACNA1F):c.1290C>T (p.Ala430=)
|
rs782593082
|
0.00001
|
NM_001256789.3(CACNA1F):c.1321C>T (p.Arg441Cys)
|
rs782537377
|
0.00001
|
NM_001256789.3(CACNA1F):c.1369+5G>C
|
rs1557110010
|
0.00001
|
NM_001256789.3(CACNA1F):c.1393G>A (p.Gly465Ser)
|
rs782037517
|
0.00001
|
NM_001256789.3(CACNA1F):c.140C>T (p.Thr47Ile)
|
rs868947929
|
0.00001
|
NM_001256789.3(CACNA1F):c.1414G>A (p.Gly472Ser)
|
rs782254354
|
0.00001
|
NM_001256789.3(CACNA1F):c.1416C>T (p.Gly472=)
|
rs148184710
|
0.00001
|
NM_001256789.3(CACNA1F):c.148C>T (p.Arg50Ter)
|
rs886039560
|
0.00001
|
NM_001256789.3(CACNA1F):c.1501C>T (p.Arg501Cys)
|
rs782441666
|
0.00001
|
NM_001256789.3(CACNA1F):c.1504C>G (p.Arg502Gly)
|
rs1365490247
|
0.00001
|
NM_001256789.3(CACNA1F):c.1504C>T (p.Arg502Ter)
|
rs1365490247
|
0.00001
|
NM_001256789.3(CACNA1F):c.1505G>A (p.Arg502Gln)
|
rs1468488300
|
0.00001
|
NM_001256789.3(CACNA1F):c.1543G>A (p.Val515Met)
|
rs781818336
|
0.00001
|
NM_001256789.3(CACNA1F):c.1582G>A (p.Val528Ile)
|
rs201932840
|
0.00001
|
NM_001256789.3(CACNA1F):c.1605C>T (p.Ile535=)
|
rs376114458
|
0.00001
|
NM_001256789.3(CACNA1F):c.1726G>A (p.Ala576Thr)
|
rs782110948
|
0.00001
|
NM_001256789.3(CACNA1F):c.1753T>G (p.Phe585Val)
|
rs1557109510
|
0.00001
|
NM_001256789.3(CACNA1F):c.1840C>T (p.Arg614Ter)
|
rs886039559
|
0.00001
|
NM_001256789.3(CACNA1F):c.1933A>G (p.Ile645Val)
|
rs1344295491
|
0.00001
|
NM_001256789.3(CACNA1F):c.1953C>T (p.Leu651=)
|
rs1557109108
|
0.00001
|
NM_001256789.3(CACNA1F):c.2161A>G (p.Met721Val)
|
rs1557108985
|
0.00001
|
NM_001256789.3(CACNA1F):c.2167G>A (p.Val723Met)
|
rs1569528322
|
0.00001
|
NM_001256789.3(CACNA1F):c.2188C>T (p.Leu730Phe)
|
rs782109538
|
0.00001
|
NM_001256789.3(CACNA1F):c.2190C>T (p.Leu730=)
|
rs1557108976
|
0.00001
|
NM_001256789.3(CACNA1F):c.2220C>T (p.Asn740=)
|
rs945972578
|
0.00001
|
NM_001256789.3(CACNA1F):c.2287G>A (p.Gly763Arg)
|
rs782737676
|
0.00001
|
NM_001256789.3(CACNA1F):c.2313C>T (p.Leu771=)
|
rs1384176006
|
0.00001
|
NM_001256789.3(CACNA1F):c.2314C>T (p.Pro772Ser)
|
rs1557108678
|
0.00001
|
NM_001256789.3(CACNA1F):c.2331C>T (p.Gly777=)
|
rs369217056
|
0.00001
|
NM_001256789.3(CACNA1F):c.2342G>A (p.Gly781Asp)
|
rs1557108545
|
0.00001
|
NM_001256789.3(CACNA1F):c.2387-8G>A
|
rs782550012
|
0.00001
|
NM_001256789.3(CACNA1F):c.2409G>A (p.Glu803=)
|
rs1395058526
|
0.00001
|
NM_001256789.3(CACNA1F):c.244C>T (p.Arg82Ter)
|
rs797044676
|
0.00001
|
NM_001256789.3(CACNA1F):c.25+9A>G
|
rs782719571
|
0.00001
|
NM_001256789.3(CACNA1F):c.2502C>T (p.Ile834=)
|
rs2065756376
|
0.00001
|
NM_001256789.3(CACNA1F):c.2543+1G>A
|
rs886044841
|
0.00001
|
NM_001256789.3(CACNA1F):c.2651G>A (p.Arg884Gln)
|
rs782157619
|
0.00001
|
NM_001256789.3(CACNA1F):c.2674-19G>A
|
rs782102242
|
0.00001
|
NM_001256789.3(CACNA1F):c.2734A>G (p.Met912Val)
|
rs373293945
|
0.00001
|
NM_001256789.3(CACNA1F):c.2762G>A (p.Arg921His)
|
rs1242467349
|
0.00001
|
NM_001256789.3(CACNA1F):c.2841-17G>A
|
rs1452822084
|
0.00001
|
NM_001256789.3(CACNA1F):c.2856G>A (p.Ser952=)
|
rs782571086
|
0.00001
|
NM_001256789.3(CACNA1F):c.2866A>T (p.Ile956Phe)
|
rs1284819409
|
0.00001
|
NM_001256789.3(CACNA1F):c.2873G>T (p.Arg958Leu)
|
rs782194677
|
0.00001
|
NM_001256789.3(CACNA1F):c.2958C>T (p.Ile986=)
|
rs782665336
|
0.00001
|
NM_001256789.3(CACNA1F):c.3010G>A (p.Ala1004Thr)
|
rs782543340
|
0.00001
|
NM_001256789.3(CACNA1F):c.3192C>T (p.Ala1064=)
|
rs1461146755
|
0.00001
|
NM_001256789.3(CACNA1F):c.3236+20G>A
|
rs1557107374
|
0.00001
|
NM_001256789.3(CACNA1F):c.3237-15C>A
|
rs782555988
|
0.00001
|
NM_001256789.3(CACNA1F):c.3270G>C (p.Glu1090Asp)
|
rs375326470
|
0.00001
|
NM_001256789.3(CACNA1F):c.3363C>T (p.Phe1121=)
|
rs781950386
|
0.00001
|
NM_001256789.3(CACNA1F):c.3439-17C>T
|
rs782088064
|
0.00001
|
NM_001256789.3(CACNA1F):c.354C>T (p.Asp118=)
|
rs1161620834
|
0.00001
|
NM_001256789.3(CACNA1F):c.3568C>T (p.Leu1190=)
|
rs1557107078
|
0.00001
|
NM_001256789.3(CACNA1F):c.3631A>G (p.Met1211Val)
|
rs148964856
|
0.00001
|
NM_001256789.3(CACNA1F):c.3663C>G (p.Leu1221=)
|
rs782132477
|
0.00001
|
NM_001256789.3(CACNA1F):c.3670A>G (p.Ile1224Val)
|
rs986331355
|
0.00001
|
NM_001256789.3(CACNA1F):c.3709-9T>C
|
rs373473291
|
0.00001
|
NM_001256789.3(CACNA1F):c.381+9C>T
|
rs782335276
|
0.00001
|
NM_001256789.3(CACNA1F):c.3871C>T (p.Arg1291Trp)
|
rs782005253
|
0.00001
|
NM_001256789.3(CACNA1F):c.3888C>T (p.Leu1296=)
|
rs782452745
|
0.00001
|
NM_001256789.3(CACNA1F):c.3890G>C (p.Ser1297Thr)
|
rs1189917731
|
0.00001
|
NM_001256789.3(CACNA1F):c.3943-20C>T
|
rs782524886
|
0.00001
|
NM_001256789.3(CACNA1F):c.3948G>A (p.Leu1316=)
|
rs1359718791
|
0.00001
|
NM_001256789.3(CACNA1F):c.3967A>G (p.Ile1323Val)
|
rs372570490
|
0.00001
|
NM_001256789.3(CACNA1F):c.3996C>T (p.Val1332=)
|
rs1557106412
|
0.00001
|
NM_001256789.3(CACNA1F):c.4051C>T (p.Arg1351Ter)
|
rs782740998
|
0.00001
|
NM_001256789.3(CACNA1F):c.4100+6A>G
|
rs373333883
|
0.00001
|
NM_001256789.3(CACNA1F):c.4260+19C>A
|
rs782683693
|
0.00001
|
NM_001256789.3(CACNA1F):c.4264A>G (p.Ile1422Val)
|
rs1557106131
|
0.00001
|
NM_001256789.3(CACNA1F):c.427G>A (p.Val143Met)
|
rs782724058
|
0.00001
|
NM_001256789.3(CACNA1F):c.4310C>T (p.Thr1437Ile)
|
rs1428150921
|
0.00001
|
NM_001256789.3(CACNA1F):c.4383G>A (p.Gly1461=)
|
rs1033384572
|
0.00001
|
NM_001256789.3(CACNA1F):c.4389-16T>A
|
rs2065649161
|
0.00001
|
NM_001256789.3(CACNA1F):c.4407G>A (p.Leu1469=)
|
rs1053797987
|
0.00001
|
NM_001256789.3(CACNA1F):c.4953+18C>A
|
rs1557105633
|
0.00001
|
NM_001256789.3(CACNA1F):c.4954-10C>T
|
rs1480441021
|
0.00001
|
NM_001256789.3(CACNA1F):c.4963G>A (p.Val1655Ile)
|
rs782096862
|
0.00001
|
NM_001256789.3(CACNA1F):c.4989C>T (p.Gly1663=)
|
rs1557105486
|
0.00001
|
NM_001256789.3(CACNA1F):c.5050C>G (p.Pro1684Ala)
|
rs782492956
|
0.00001
|
NM_001256789.3(CACNA1F):c.5071A>G (p.Thr1691Ala)
|
rs1198251463
|
0.00001
|
NM_001256789.3(CACNA1F):c.5117C>A (p.Thr1706Asn)
|
rs1557105425
|
0.00001
|
NM_001256789.3(CACNA1F):c.5137G>T (p.Ala1713Ser)
|
rs1557105119
|
0.00001
|
NM_001256789.3(CACNA1F):c.5205A>C (p.Gln1735His)
|
rs1557105078
|
0.00001
|
NM_001256789.3(CACNA1F):c.522-8C>T
|
rs782528914
|
0.00001
|
NM_001256789.3(CACNA1F):c.5253G>C (p.Gln1751His)
|
rs781936182
|
0.00001
|
NM_001256789.3(CACNA1F):c.5305T>C (p.Tyr1769His)
|
rs1455611582
|
0.00001
|
NM_001256789.3(CACNA1F):c.5308A>G (p.Met1770Val)
|
rs1319803071
|
0.00001
|
NM_001256789.3(CACNA1F):c.5329C>T (p.Arg1777Cys)
|
rs1331907159
|
0.00001
|
NM_001256789.3(CACNA1F):c.5359+1G>A
|
rs1557104968
|
0.00001
|
NM_001256789.3(CACNA1F):c.5362C>T (p.Arg1788Trp)
|
rs781841976
|
0.00001
|
NM_001256789.3(CACNA1F):c.5441G>A (p.Arg1814His)
|
rs375373629
|
0.00001
|
NM_001256789.3(CACNA1F):c.5446C>T (p.Arg1816Ter)
|
rs782034481
|
0.00001
|
NM_001256789.3(CACNA1F):c.5548G>A (p.Gly1850Arg)
|
rs1557104723
|
0.00001
|
NM_001256789.3(CACNA1F):c.5608C>G (p.Pro1870Ala)
|
rs782033301
|
0.00001
|
NM_001256789.3(CACNA1F):c.5612G>C (p.Gly1871Ala)
|
rs1557104688
|
0.00001
|
NM_001256789.3(CACNA1F):c.5653G>A (p.Asp1885Asn)
|
rs370332593
|
0.00001
|
NM_001256789.3(CACNA1F):c.5698T>G (p.Phe1900Val)
|
rs2065582966
|
0.00001
|
NM_001256789.3(CACNA1F):c.5810C>T (p.Thr1937Ile)
|
rs1557104512
|
0.00001
|
NM_001256789.3(CACNA1F):c.5892C>T (p.His1964=)
|
rs782132499
|
0.00001
|
NM_001256789.3(CACNA1F):c.5897T>G (p.Leu1966Arg)
|
rs781977160
|
0.00001
|
NM_001256789.3(CACNA1F):c.610G>A (p.Ala204Thr)
|
rs781874465
|
0.00001
|
NM_001256789.3(CACNA1F):c.645G>A (p.Arg215=)
|
rs782084020
|
0.00001
|
NM_001256789.3(CACNA1F):c.6G>A (p.Ser2=)
|
rs894244553
|
0.00001
|
NM_001256789.3(CACNA1F):c.852G>A (p.Ala284=)
|
rs782679705
|
0.00001
|
NM_001256789.3(CACNA1F):c.867G>A (p.Gly289=)
|
rs199981245
|
0.00001
|
NM_001256789.3(CACNA1F):c.871G>A (p.Ala291Thr)
|
rs782498192
|
0.00001
|
NM_001256789.3(CACNA1F):c.935A>C (p.Asn312Thr)
|
rs904954978
|
0.00001
|
NM_001256789.3(CACNA1F):c.960G>A (p.Met320Ile)
|
rs782531308
|
0.00001
|
NM_005183.4(CACNA1F):c.2932C>T (p.Arg978Ter)
|
rs1557107966
|
0.00001
|
NC_000023.10:g.(?_49074194)_(49077559_?)del
|
|
|
NC_000023.10:g.(?_49074894)_(49088409_?)dup
|
|
|
NM_001256789.3(CACNA1F):c.1014+12T>G
|
rs2065843521
|
|
NM_001256789.3(CACNA1F):c.1014+8G>A
|
|
|
NM_001256789.3(CACNA1F):c.1015-18T>C
|
|
|
NM_001256789.3(CACNA1F):c.1102C>T (p.Leu368Phe)
|
|
|
NM_001256789.3(CACNA1F):c.1118+19C>A
|
|
|
NM_001256789.3(CACNA1F):c.1118+20C>T
|
|
|
NM_001256789.3(CACNA1F):c.1118+6=
|
|
|
NM_001256789.3(CACNA1F):c.1122G>A (p.Glu374=)
|
|
|
NM_001256789.3(CACNA1F):c.1130dup (p.Glu378fs)
|
|
|
NM_001256789.3(CACNA1F):c.1154G>T (p.Arg385Leu)
|
|
|
NM_001256789.3(CACNA1F):c.1155C>A (p.Arg385=)
|
|
|
NM_001256789.3(CACNA1F):c.1155C>T (p.Arg385=)
|
|
|
NM_001256789.3(CACNA1F):c.1171C>T (p.Gln391Ter)
|
|
|
NM_001256789.3(CACNA1F):c.1174C>A (p.Arg392=)
|
|
|
NM_001256789.3(CACNA1F):c.1174C>G (p.Arg392Gly)
|
rs139250897
|
|
NM_001256789.3(CACNA1F):c.1178A>G (p.Glu393Gly)
|
|
|
NM_001256789.3(CACNA1F):c.1194G>A (p.Glu398=)
|
|
|
NM_001256789.3(CACNA1F):c.1198G>A (p.Asp400Asn)
|
rs2065833319
|
|
NM_001256789.3(CACNA1F):c.1231G>A (p.Ala411Thr)
|
|
|
NM_001256789.3(CACNA1F):c.1233C>T (p.Ala411=)
|
|
|
NM_001256789.3(CACNA1F):c.1234G>T (p.Glu412Ter)
|
rs781837189
|
|
NM_001256789.3(CACNA1F):c.123G>A (p.Gly41=)
|
rs35142387
|
|
NM_001256789.3(CACNA1F):c.123G>C (p.Gly41=)
|
rs35142387
|
|
NM_001256789.3(CACNA1F):c.1250A>C (p.Glu417Ala)
|
|
|
NM_001256789.3(CACNA1F):c.1264G>A (p.Asp422Asn)
|
|
|
NM_001256789.3(CACNA1F):c.1264G>T (p.Asp422Tyr)
|
|
|
NM_001256789.3(CACNA1F):c.1271A>G (p.Asn424Ser)
|
|
|
NM_001256789.3(CACNA1F):c.1273C>G (p.Leu425Val)
|
|
|
NM_001256789.3(CACNA1F):c.1276+20C>T
|
|
|
NM_001256789.3(CACNA1F):c.1276+22G>A
|
|
|
NM_001256789.3(CACNA1F):c.1276+22G>C
|
|
|
NM_001256789.3(CACNA1F):c.1276+42C>T
|
|
|
NM_001256789.3(CACNA1F):c.1276+46A>T
|
rs781819043
|
|
NM_001256789.3(CACNA1F):c.1276+48T>C
|
rs1329781692
|
|
NM_001256789.3(CACNA1F):c.1276+49C>T
|
|
|
NM_001256789.3(CACNA1F):c.1277-16C>A
|
|
|
NM_001256789.3(CACNA1F):c.1278G>A (p.Gly426=)
|
|
|
NM_001256789.3(CACNA1F):c.1310G>A (p.Arg437His)
|
|
|
NM_001256789.3(CACNA1F):c.1319T>C (p.Leu440Pro)
|
|
|
NM_001256789.3(CACNA1F):c.135del (p.Thr47fs)
|
|
|
NM_001256789.3(CACNA1F):c.1369+3G>A
|
rs781827823
|
|
NM_001256789.3(CACNA1F):c.1377C>T (p.Leu459=)
|
rs868930906
|
|
NM_001256789.3(CACNA1F):c.137G>T (p.Gly46Val)
|
rs2147926448
|
|
NM_001256789.3(CACNA1F):c.1405G>C (p.Glu469Gln)
|
|
|
NM_001256789.3(CACNA1F):c.1407G>C (p.Glu469Asp)
|
|
|
NM_001256789.3(CACNA1F):c.1407_1408del (p.Glu469fs)
|
rs2147919032
|
|
NM_001256789.3(CACNA1F):c.1415G>A (p.Gly472Asp)
|
rs2065825365
|
|
NM_001256789.3(CACNA1F):c.1417G>A (p.Asp473Asn)
|
rs782709793
|
|
NM_001256789.3(CACNA1F):c.1420G>A (p.Glu474Lys)
|
rs2065825237
|
|
NM_001256789.3(CACNA1F):c.1424A>G (p.Asp475Gly)
|
|
|
NM_001256789.3(CACNA1F):c.1427AGG[2] (p.Glu478del)
|
rs782326804
|
|
NM_001256789.3(CACNA1F):c.1431G>T (p.Glu477Asp)
|
|
|
NM_001256789.3(CACNA1F):c.1434G>C (p.Glu478Asp)
|
|
|
NM_001256789.3(CACNA1F):c.1447A>G (p.Ser483Gly)
|
|
|
NM_001256789.3(CACNA1F):c.1456C>T (p.Arg486Cys)
|
|
|
NM_001256789.3(CACNA1F):c.1456_1457insCACAC (p.Arg486fs)
|
|
|
NM_001256789.3(CACNA1F):c.1463+18_1463+29del
|
rs1166402883
|
|
NM_001256789.3(CACNA1F):c.1463+7G>A
|
rs781783069
|
|
NM_001256789.3(CACNA1F):c.1483A>C (p.Arg495=)
|
|
|
NM_001256789.3(CACNA1F):c.1483A>G (p.Arg495Gly)
|
rs2147918607
|
|
NM_001256789.3(CACNA1F):c.1490+1G>T
|
|
|
NM_001256789.3(CACNA1F):c.1490+20C>A
|
|
|
NM_001256789.3(CACNA1F):c.1490+3G>A
|
rs2147918602
|
|
NM_001256789.3(CACNA1F):c.1491-11C>T
|
|
|
NM_001256789.3(CACNA1F):c.1491-19T>C
|
|
|
NM_001256789.3(CACNA1F):c.1491-20G>T
|
|
|
NM_001256789.3(CACNA1F):c.1491-2A>G
|
|
|
NM_001256789.3(CACNA1F):c.1492C>T (p.Arg498Cys)
|
|
|
NM_001256789.3(CACNA1F):c.1495C>T (p.Arg499Cys)
|
|
|
NM_001256789.3(CACNA1F):c.1496G>A (p.Arg499His)
|
|
|
NM_001256789.3(CACNA1F):c.1514G>A (p.Arg505Gln)
|
|
|
NM_001256789.3(CACNA1F):c.1514G>C (p.Arg505Pro)
|
|
|
NM_001256789.3(CACNA1F):c.1522C>T (p.Arg508Trp)
|
|
|
NM_001256789.3(CACNA1F):c.1524G>A (p.Arg508=)
|
rs2147918233
|
|
NM_001256789.3(CACNA1F):c.1532G>A (p.Cys511Tyr)
|
|
|
NM_001256789.3(CACNA1F):c.1534C>G (p.Arg512Gly)
|
rs782544445
|
|
NM_001256789.3(CACNA1F):c.1534C>T (p.Arg512Cys)
|
|
|
NM_001256789.3(CACNA1F):c.1535G>A (p.Arg512His)
|
rs146847449
|
|
NM_001256789.3(CACNA1F):c.1538G>C (p.Arg513Pro)
|
|
|
NM_001256789.3(CACNA1F):c.1545G>T (p.Val515=)
|
|
|
NM_001256789.3(CACNA1F):c.1546A>G (p.Lys516Glu)
|
|
|
NM_001256789.3(CACNA1F):c.1564T>A (p.Trp522Arg)
|
|
|
NM_001256789.3(CACNA1F):c.1568C>T (p.Ala523Val)
|
|
|
NM_001256789.3(CACNA1F):c.1592A>G (p.Asn531Ser)
|
|
|
NM_001256789.3(CACNA1F):c.1595C>T (p.Thr532Met)
|
|
|
NM_001256789.3(CACNA1F):c.1608C>G (p.Ala536=)
|
rs1557109721
|
|
NM_001256789.3(CACNA1F):c.1611T>G (p.Ser537=)
|
rs782419277
|
|
NM_001256789.3(CACNA1F):c.1618C>T (p.His540Tyr)
|
rs2065818308
|
|
NM_001256789.3(CACNA1F):c.1624C>T (p.Gln542Ter)
|
|
|
NM_001256789.3(CACNA1F):c.1627C>A (p.Pro543Thr)
|
|
|
NM_001256789.3(CACNA1F):c.164G>A (p.Ser55Asn)
|
|
|
NM_001256789.3(CACNA1F):c.1651+2T>C
|
rs2147917894
|
|
NM_001256789.3(CACNA1F):c.1652-12C>T
|
|
|
NM_001256789.3(CACNA1F):c.1678_1681del (p.Leu560fs)
|
rs2147916854
|
|
NM_001256789.3(CACNA1F):c.1685C>T (p.Thr562Met)
|
|
|
NM_001256789.3(CACNA1F):c.1688T>G (p.Val563Gly)
|
|
|
NM_001256789.3(CACNA1F):c.1695G>A (p.Met565Ile)
|
|
|
NM_001256789.3(CACNA1F):c.16G>C (p.Gly6Arg)
|
|
|
NM_001256789.3(CACNA1F):c.1707G>A (p.Leu569=)
|
rs1450212557
|
|
NM_001256789.3(CACNA1F):c.1710C>T (p.Tyr570=)
|
|
|
NM_001256789.3(CACNA1F):c.1716G>A (p.Leu572=)
|
rs782165983
|
|
NM_001256789.3(CACNA1F):c.1719C>G (p.Gly573=)
|
|
|
NM_001256789.3(CACNA1F):c.1728C>T (p.Ala576=)
|
|
|
NM_001256789.3(CACNA1F):c.1761C>A (p.Cys587Ter)
|
|
|
NM_001256789.3(CACNA1F):c.1761C>T (p.Cys587=)
|
rs2065808409
|
|
NM_001256789.3(CACNA1F):c.1772G>T (p.Cys591Phe)
|
rs782273072
|
|
NM_001256789.3(CACNA1F):c.1805T>C (p.Val602Ala)
|
rs1276456904
|
|
NM_001256789.3(CACNA1F):c.1809= (p.Gly603=)
|
|
|
NM_001256789.3(CACNA1F):c.1809T>C (p.Gly603=)
|
rs2235127
|
|
NM_001256789.3(CACNA1F):c.1837C>T (p.Leu613Phe)
|
|
|
NM_001256789.3(CACNA1F):c.1877+12G>A
|
|
|
NM_001256789.3(CACNA1F):c.1877+19G>C
|
|
|
NM_001256789.3(CACNA1F):c.1877+7A>G
|
|
|
NM_001256789.3(CACNA1F):c.1878-16C>T
|
|
|
NM_001256789.3(CACNA1F):c.1878-18del
|
rs782341371
|
|
NM_001256789.3(CACNA1F):c.1910C>A (p.Ser637Tyr)
|
|
|
NM_001256789.3(CACNA1F):c.1931C>A (p.Ser644Tyr)
|
|
|
NM_001256789.3(CACNA1F):c.1936G>C (p.Ala646Pro)
|
|
|
NM_001256789.3(CACNA1F):c.1944G>A (p.Leu648=)
|
|
|
NM_001256789.3(CACNA1F):c.1955del (p.Leu652fs)
|
|
|
NM_001256789.3(CACNA1F):c.1990A>G (p.Met664Val)
|
rs2147914173
|
|
NM_001256789.3(CACNA1F):c.2000T>C (p.Phe667Ser)
|
|
|
NM_001256789.3(CACNA1F):c.2001T>C (p.Phe667=)
|
rs1569528334
|
|
NM_001256789.3(CACNA1F):c.202T>A (p.Ser68Thr)
|
|
|
NM_001256789.3(CACNA1F):c.2038C>T (p.Arg680Ter)
|
rs782074040
|
|
NM_001256789.3(CACNA1F):c.2045C>A (p.Thr682Asn)
|
|
|
NM_001256789.3(CACNA1F):c.2049T>C (p.Phe683=)
|
|
|
NM_001256789.3(CACNA1F):c.2058C>G (p.Phe686Leu)
|
rs2147914056
|
|
NM_001256789.3(CACNA1F):c.2070C>T (p.Leu690=)
|
rs2147914022
|
|
NM_001256789.3(CACNA1F):c.2074A>T (p.Thr692Ser)
|
rs2147914017
|
|
NM_001256789.3(CACNA1F):c.2077G>T (p.Val693Phe)
|
rs1459166203
|
|
NM_001256789.3(CACNA1F):c.2085+19G>A
|
|
|
NM_001256789.3(CACNA1F):c.2086-1G>C
|
|
|
NM_001256789.3(CACNA1F):c.2086-2A>C
|
|
|
NM_001256789.3(CACNA1F):c.2101G>T (p.Asp701Tyr)
|
rs2147913764
|
|
NM_001256789.3(CACNA1F):c.2112G>T (p.Val704=)
|
rs2147913749
|
|
NM_001256789.3(CACNA1F):c.2115C>A (p.Val705=)
|
|
|
NM_001256789.3(CACNA1F):c.211G>A (p.Ala71Thr)
|
rs2147926283
|
|
NM_001256789.3(CACNA1F):c.2128A>G (p.Ile710Val)
|
|
|
NM_001256789.3(CACNA1F):c.2156C>T (p.Pro719Leu)
|
|
|
NM_001256789.3(CACNA1F):c.2159G>A (p.Gly720Glu)
|
rs2147913654
|
|
NM_001256789.3(CACNA1F):c.2186T>C (p.Ile729Thr)
|
|
|
NM_001256789.3(CACNA1F):c.2187T>G (p.Ile729Met)
|
|
|
NM_001256789.3(CACNA1F):c.2206+19G>A
|
|
|
NM_001256789.3(CACNA1F):c.2207-8C>T
|
|
|
NM_001256789.3(CACNA1F):c.2224T>A (p.Phe742Ile)
|
|
|
NM_001256789.3(CACNA1F):c.2225T>G (p.Phe742Cys)
|
rs1602644716
|
|
NM_001256789.3(CACNA1F):c.2234T>C (p.Ile745Thr)
|
rs122456136
|
|
NM_001256789.3(CACNA1F):c.2236G>C (p.Ala746Pro)
|
|
|
NM_001256789.3(CACNA1F):c.2246A>G (p.Asn749Ser)
|
|
|
NM_001256789.3(CACNA1F):c.225C>T (p.Leu75=)
|
|
|
NM_001256789.3(CACNA1F):c.225_230del (p.Thr76_Leu77del)
|
rs2147926237
|
|
NM_001256789.3(CACNA1F):c.2288+5G>A
|
|
|
NM_001256789.3(CACNA1F):c.2289-11T>C
|
|
|
NM_001256789.3(CACNA1F):c.2295G>T (p.Lys765Asn)
|
rs1244091567
|
|
NM_001256789.3(CACNA1F):c.22A>G (p.Lys8Glu)
|
|
|
NM_001256789.3(CACNA1F):c.2303A>G (p.Glu768Gly)
|
rs2147911776
|
|
NM_001256789.3(CACNA1F):c.2310T>A (p.Asp770Glu)
|
rs1557108683
|
|
NM_001256789.3(CACNA1F):c.2330G>C (p.Gly777Ala)
|
|
|
NM_001256789.3(CACNA1F):c.2330G>T (p.Gly777Val)
|
|
|
NM_001256789.3(CACNA1F):c.2332C>T (p.Leu778=)
|
|
|
NM_001256789.3(CACNA1F):c.2335-16G>A
|
rs782820584
|
|
NM_001256789.3(CACNA1F):c.234C>G (p.Ala78=)
|
|
|
NM_001256789.3(CACNA1F):c.2366G>A (p.Gly789Asp)
|
|
|
NM_001256789.3(CACNA1F):c.2369C>G (p.Ala790Gly)
|
rs2065764474
|
|
NM_001256789.3(CACNA1F):c.2376G>T (p.Arg792Ser)
|
rs2147911088
|
|
NM_001256789.3(CACNA1F):c.2386G>A (p.Asp796Asn)
|
|
|
NM_001256789.3(CACNA1F):c.2387-19del
|
rs375791434
|
|
NM_001256789.3(CACNA1F):c.2387-27dup
|
rs375791434
|
|
NM_001256789.3(CACNA1F):c.238C>A (p.Pro80Thr)
|
|
|
NM_001256789.3(CACNA1F):c.2391GGA[6] (p.Glu814del)
|
rs112450928
|
|
NM_001256789.3(CACNA1F):c.2391GGA[8] (p.Glu814dup)
|
rs112450928
|
|
NM_001256789.3(CACNA1F):c.2391GGA[9] (p.Glu813_Glu814dup)
|
rs112450928
|
|
NM_001256789.3(CACNA1F):c.2394G>A (p.Glu798=)
|
|
|
NM_001256789.3(CACNA1F):c.240T>C (p.Pro80=)
|
rs2147926217
|
|
NM_001256789.3(CACNA1F):c.2412AGA[1] (p.Glu814del)
|
rs375862263
|
|
NM_001256789.3(CACNA1F):c.2412_2417del (p.Glu813_Glu814del)
|
rs375862263
|
|
NM_001256789.3(CACNA1F):c.2415AGAGGAAGA[2] (p.Glu812_Glu814del)
|
rs59355923
|
|
NM_001256789.3(CACNA1F):c.2415AGAGGAAGA[4] (p.Glu812_Glu814dup)
|
rs59355923
|
|
NM_001256789.3(CACNA1F):c.2415AGAGGAAGA[5] (p.Glu809_Glu814dup)
|
rs59355923
|
|
NM_001256789.3(CACNA1F):c.2416G>T (p.Glu806Ter)
|
rs2147910339
|
|
NM_001256789.3(CACNA1F):c.2418G>A (p.Glu806=)
|
|
|
NM_001256789.3(CACNA1F):c.2427G>A (p.Glu809=)
|
rs146516514
|
|
NM_001256789.3(CACNA1F):c.2427G>T (p.Glu809Asp)
|
rs146516514
|
|
NM_001256789.3(CACNA1F):c.2452G>A (p.Gly818Ser)
|
|
|
NM_001256789.3(CACNA1F):c.2457G>T (p.Val819=)
|
rs1398116616
|
|
NM_001256789.3(CACNA1F):c.245G>A (p.Arg82Gln)
|
rs2065880189
|
|
NM_001256789.3(CACNA1F):c.247C>T (p.Arg83Trp)
|
|
|
NM_001256789.3(CACNA1F):c.2487G>A (p.Glu829=)
|
|
|
NM_001256789.3(CACNA1F):c.25+15C>T
|
|
|
NM_001256789.3(CACNA1F):c.251C>A (p.Ser84Tyr)
|
rs186181553
|
|
NM_001256789.3(CACNA1F):c.2520C>A (p.Phe840Leu)
|
|
|
NM_001256789.3(CACNA1F):c.2525G>C (p.Cys842Ser)
|
rs2147910122
|
|
NM_001256789.3(CACNA1F):c.2533C>T (p.Gln845Ter)
|
rs2147910114
|
|
NM_001256789.3(CACNA1F):c.2544-11C>G
|
rs2147909850
|
|
NM_001256789.3(CACNA1F):c.2554G>A (p.Gly852Ser)
|
|
|
NM_001256789.3(CACNA1F):c.2569A>G (p.Ile857Val)
|
rs1360264438
|
|
NM_001256789.3(CACNA1F):c.2571C>G (p.Ile857Met)
|
rs2147909777
|
|
NM_001256789.3(CACNA1F):c.2599C>T (p.Leu867=)
|
|
|
NM_001256789.3(CACNA1F):c.2611A>G (p.Ile871Val)
|
|
|
NM_001256789.3(CACNA1F):c.2616dup (p.Ser873fs)
|
rs2147909707
|
|
NM_001256789.3(CACNA1F):c.2620A>T (p.Ser874Cys)
|
rs2147909684
|
|
NM_001256789.3(CACNA1F):c.2627C>T (p.Ser876Phe)
|
|
|
NM_001256789.3(CACNA1F):c.2628C>T (p.Ser876=)
|
|
|
NM_001256789.3(CACNA1F):c.2638G>A (p.Glu880Lys)
|
rs2147909623
|
|
NM_001256789.3(CACNA1F):c.2645C>T (p.Pro882Leu)
|
rs2147909599
|
|
NM_001256789.3(CACNA1F):c.2649C>A (p.Ile883=)
|
rs926774753
|
|
NM_001256789.3(CACNA1F):c.264C>T (p.Ile88=)
|
|
|
NM_001256789.3(CACNA1F):c.2659T>G (p.Ser887Ala)
|
|
|
NM_001256789.3(CACNA1F):c.2673+12G>A
|
|
|
NM_001256789.3(CACNA1F):c.2674-14T>C
|
|
|
NM_001256789.3(CACNA1F):c.2674-20C>G
|
rs376797886
|
|
NM_001256789.3(CACNA1F):c.2674-20C>T
|
rs376797886
|
|
NM_001256789.3(CACNA1F):c.2674-2A>G
|
rs2147909115
|
|
NM_001256789.3(CACNA1F):c.2674-4C>T
|
|
|
NM_001256789.3(CACNA1F):c.2674-7A>G
|
|
|
NM_001256789.3(CACNA1F):c.2681G>T (p.Gly894Val)
|
rs2065747069
|
|
NM_001256789.3(CACNA1F):c.2733+5C>T
|
|
|
NM_001256789.3(CACNA1F):c.2734-18C>T
|
rs2092515329
|
|
NM_001256789.3(CACNA1F):c.2734-2A>G
|
|
|
NM_001256789.3(CACNA1F):c.273G>C (p.Trp91Cys)
|
|
|
NM_001256789.3(CACNA1F):c.2741T>A (p.Val914Glu)
|
rs2065743789
|
|
NM_001256789.3(CACNA1F):c.2763C>T (p.Arg921=)
|
|
|
NM_001256789.3(CACNA1F):c.2774G>A (p.Cys925Tyr)
|
rs1557108067
|
|
NM_001256789.3(CACNA1F):c.2776C>T (p.Arg926Cys)
|
rs886044865
|
|
NM_001256789.3(CACNA1F):c.2780G>C (p.Ser927Thr)
|
|
|
NM_001256789.3(CACNA1F):c.2789A>C (p.Asn930Thr)
|
|
|
NM_001256789.3(CACNA1F):c.2796G>T (p.Leu932Phe)
|
|
|
NM_001256789.3(CACNA1F):c.2811C>T (p.Val937=)
|
|
|
NM_001256789.3(CACNA1F):c.2840+8A>G
|
|
|
NM_001256789.3(CACNA1F):c.2841-10C>G
|
rs2147908353
|
|
NM_001256789.3(CACNA1F):c.2872C>T (p.Arg958Ter)
|
rs122456134
|
|
NM_001256789.3(CACNA1F):c.2873G>A (p.Arg958Gln)
|
|
|
NM_001256789.3(CACNA1F):c.2881C>T (p.Arg961Ter)
|
rs2065740868
|
|
NM_001256789.3(CACNA1F):c.2888T>C (p.Leu963Pro)
|
|
|
NM_001256789.3(CACNA1F):c.288C>T (p.Ile96=)
|
rs2147925719
|
|
NM_001256789.3(CACNA1F):c.2890C>A (p.Arg964=)
|
rs868924441
|
|
NM_001256789.3(CACNA1F):c.2891G>A (p.Arg964Gln)
|
|
|
NM_001256789.3(CACNA1F):c.2894C>T (p.Pro965Leu)
|
|
|
NM_001256789.3(CACNA1F):c.2895C>T (p.Pro965=)
|
|
|
NM_001256789.3(CACNA1F):c.2896C>T (p.Leu966Phe)
|
rs2065740369
|
|
NM_001256789.3(CACNA1F):c.290T>G (p.Leu97Arg)
|
|
|
NM_001256789.3(CACNA1F):c.2913G>A (p.Arg971=)
|
rs1557107954
|
|
NM_001256789.3(CACNA1F):c.2928+13C>T
|
|
|
NM_001256789.3(CACNA1F):c.2928+1G>A
|
rs2147908102
|
|
NM_001256789.3(CACNA1F):c.2928+3A>G
|
rs113600574
|
|
NM_001256789.3(CACNA1F):c.2928+3A>T
|
|
|
NM_001256789.3(CACNA1F):c.2929-1G>A
|
rs2147907573
|
|
NM_001256789.3(CACNA1F):c.2949T>G (p.Phe983Leu)
|
rs2065735355
|
|
NM_001256789.3(CACNA1F):c.2959C>T (p.Arg987Trp)
|
|
|
NM_001256789.3(CACNA1F):c.2965A>G (p.Ile989Val)
|
|
|
NM_001256789.3(CACNA1F):c.2966T>G (p.Ile989Ser)
|
|
|
NM_001256789.3(CACNA1F):c.2968G>C (p.Gly990Arg)
|
rs782473510
|
|
NM_001256789.3(CACNA1F):c.2976C>T (p.Ile992=)
|
|
|
NM_001256789.3(CACNA1F):c.2982T>C (p.Ile994=)
|
rs2147907474
|
|
NM_001256789.3(CACNA1F):c.2986A>G (p.Thr996Ala)
|
|
|
NM_001256789.3(CACNA1F):c.2998C>T (p.Gln1000Ter)
|
|
|
NM_001256789.3(CACNA1F):c.3016A>G (p.Ile1006Val)
|
rs1013820404
|
|
NM_001256789.3(CACNA1F):c.3019G>A (p.Gly1007Arg)
|
rs1249437161
|
|
NM_001256789.3(CACNA1F):c.3020G>A (p.Gly1007Glu)
|
rs1064794711
|
|
NM_001256789.3(CACNA1F):c.3036+1G>A
|
|
|
NM_001256789.3(CACNA1F):c.3036+9A>G
|
rs2147907350
|
|
NM_001256789.3(CACNA1F):c.3037-8C>G
|
|
|
NM_001256789.3(CACNA1F):c.3045C>A (p.Phe1015Leu)
|
rs782200766
|
|
NM_001256789.3(CACNA1F):c.3048C>A (p.Tyr1016Ter)
|
|
|
NM_001256789.3(CACNA1F):c.3048C>T (p.Tyr1016=)
|
|
|
NM_001256789.3(CACNA1F):c.3065C>A (p.Ala1022Asp)
|
rs2065732486
|
|
NM_001256789.3(CACNA1F):c.3088_3089+2del
|
|
|
NM_001256789.3(CACNA1F):c.3090-11C>G
|
|
|
NM_001256789.3(CACNA1F):c.3090-15T>C
|
|
|
NM_001256789.3(CACNA1F):c.3090-2A>T
|
rs2147905040
|
|
NM_001256789.3(CACNA1F):c.3103G>T (p.Val1035Leu)
|
|
|
NM_001256789.3(CACNA1F):c.311C>T (p.Ala104Val)
|
|
|
NM_001256789.3(CACNA1F):c.3127C>T (p.Arg1043Trp)
|
|
|
NM_001256789.3(CACNA1F):c.3133C>G (p.Leu1045Val)
|
|
|
NM_001256789.3(CACNA1F):c.3133dup (p.Leu1045fs)
|
rs80359870
|
|
NM_001256789.3(CACNA1F):c.3145C>T (p.Arg1049Trp)
|
rs2147904860
|
|
NM_001256789.3(CACNA1F):c.3146G>A (p.Arg1049Gln)
|
|
|
NM_001256789.3(CACNA1F):c.3146G>T (p.Arg1049Leu)
|
rs5906755
|
|
NM_001256789.3(CACNA1F):c.3159C>A (p.Asn1053Lys)
|
|
|
NM_001256789.3(CACNA1F):c.3200C>G (p.Ala1067Gly)
|
|
|
NM_001256789.3(CACNA1F):c.3225del (p.Gly1076fs)
|
rs2147904608
|
|
NM_001256789.3(CACNA1F):c.3236+1G>A
|
rs1064797371
|
|
NM_001256789.3(CACNA1F):c.3236+20G>C
|
|
|
NM_001256789.3(CACNA1F):c.3236+7G>A
|
|
|
NM_001256789.3(CACNA1F):c.3237-16C>A
|
rs190434065
|
|
NM_001256789.3(CACNA1F):c.3237-16C>G
|
rs190434065
|
|
NM_001256789.3(CACNA1F):c.3237-16C>T
|
rs190434065
|
|
NM_001256789.3(CACNA1F):c.3237-17C>A
|
rs368889312
|
|
NM_001256789.3(CACNA1F):c.3237-18C>A
|
|
|
NM_001256789.3(CACNA1F):c.3237-19C>A
|
rs372305587
|
|
NM_001256789.3(CACNA1F):c.3237-19C>G
|
rs372305587
|
|
NM_001256789.3(CACNA1F):c.3237-20C>A
|
|
|
NM_001256789.3(CACNA1F):c.323C>G (p.Ala108Gly)
|
|
|
NM_001256789.3(CACNA1F):c.3245A>T (p.Tyr1082Phe)
|
|
|
NM_001256789.3(CACNA1F):c.3247A>G (p.Lys1083Glu)
|
rs1557107226
|
|
NM_001256789.3(CACNA1F):c.324C>T (p.Ala108=)
|
rs1408529567
|
|
NM_001256789.3(CACNA1F):c.3252C>T (p.Ala1084=)
|
|
|
NM_001256789.3(CACNA1F):c.3269A>G (p.Glu1090Gly)
|
rs782663402
|
|
NM_001256789.3(CACNA1F):c.3276= (p.His1092=)
|
|
|
NM_001256789.3(CACNA1F):c.3278G>T (p.Gly1093Val)
|
rs1557107205
|
|
NM_001256789.3(CACNA1F):c.3287A>C (p.Tyr1096Ser)
|
rs2065704580
|
|
NM_001256789.3(CACNA1F):c.3295C>G (p.Arg1099Gly)
|
|
|
NM_001256789.3(CACNA1F):c.3300G>A (p.Val1100=)
|
|
|
NM_001256789.3(CACNA1F):c.3303G>C (p.Glu1101Asp)
|
|
|
NM_001256789.3(CACNA1F):c.3317T>C (p.Phe1106Ser)
|
rs1557107176
|
|
NM_001256789.3(CACNA1F):c.3332T>C (p.Ile1111Thr)
|
rs2065703060
|
|
NM_001256789.3(CACNA1F):c.3340G>T (p.Ala1114Ser)
|
rs2147902968
|
|
NM_001256789.3(CACNA1F):c.3342G>T (p.Ala1114=)
|
rs147312871
|
|
NM_001256789.3(CACNA1F):c.3364G>T (p.Val1122Leu)
|
rs1406617421
|
|
NM_001256789.3(CACNA1F):c.3371del (p.Phe1124fs)
|
|
|
NM_001256789.3(CACNA1F):c.3391G>T (p.Ala1131Ser)
|
rs782258468
|
|
NM_001256789.3(CACNA1F):c.3399C>A (p.Gly1133=)
|
|
|
NM_001256789.3(CACNA1F):c.3400G>T (p.Glu1134Ter)
|
rs138447882
|
|
NM_001256789.3(CACNA1F):c.3403C>T (p.Gln1135Ter)
|
|
|
NM_001256789.3(CACNA1F):c.3418T>C (p.Cys1140Arg)
|
|
|
NM_001256789.3(CACNA1F):c.3432G>A (p.Lys1144=)
|
rs2147902766
|
|
NM_001256789.3(CACNA1F):c.3437A>G (p.Gln1146Arg)
|
|
|
NM_001256789.3(CACNA1F):c.3438+20C>T
|
rs376277147
|
|
NM_001256789.3(CACNA1F):c.3438+2T>C
|
|
|
NM_001256789.3(CACNA1F):c.3438+7T>A
|
|
|
NM_001256789.3(CACNA1F):c.3439-20T>C
|
|
|
NM_001256789.3(CACNA1F):c.3439-4G>A
|
rs782382625
|
|
NM_001256789.3(CACNA1F):c.3439-6A>G
|
|
|
NM_001256789.3(CACNA1F):c.3439C>T (p.Arg1147Cys)
|
|
|
NM_001256789.3(CACNA1F):c.3478C>T (p.Arg1160Cys)
|
|
|
NM_001256789.3(CACNA1F):c.3482G>T (p.Arg1161Leu)
|
|
|
NM_001256789.3(CACNA1F):c.3494A>G (p.Lys1165Arg)
|
rs2065698604
|
|
NM_001256789.3(CACNA1F):c.3501G>A (p.Pro1167=)
|
rs143720262
|
|
NM_001256789.3(CACNA1F):c.3507G>C (p.Gln1169His)
|
|
|
NM_001256789.3(CACNA1F):c.3511C>A (p.Arg1171Ser)
|
|
|
NM_001256789.3(CACNA1F):c.3511C>G (p.Arg1171Gly)
|
rs782492780
|
|
NM_001256789.3(CACNA1F):c.3512G>C (p.Arg1171Pro)
|
|
|
NM_001256789.3(CACNA1F):c.3597+16C>G
|
|
|
NM_001256789.3(CACNA1F):c.3597+17T>C
|
|
|
NM_001256789.3(CACNA1F):c.3597+20C>T
|
|
|
NM_001256789.3(CACNA1F):c.3597+2T>C
|
|
|
NM_001256789.3(CACNA1F):c.35C>T (p.Pro12Leu)
|
rs2065883185
|
|
NM_001256789.3(CACNA1F):c.3635A>T (p.Asp1212Val)
|
|
|
NM_001256789.3(CACNA1F):c.3639C>T (p.Ile1213=)
|
|
|
NM_001256789.3(CACNA1F):c.3642C>T (p.Leu1214=)
|
rs2147901029
|
|
NM_001256789.3(CACNA1F):c.3668C>T (p.Thr1223Ile)
|
rs1557106903
|
|
NM_001256789.3(CACNA1F):c.367G>T (p.Ala123Ser)
|
rs2065875840
|
|
NM_001256789.3(CACNA1F):c.3708+11T>C
|
|
|
NM_001256789.3(CACNA1F):c.3708+15C>G
|
|
|
NM_001256789.3(CACNA1F):c.3708+4G>T
|
rs2065686932
|
|
NM_001256789.3(CACNA1F):c.3721G>A (p.Asp1241Asn)
|
rs1602632414
|
|
NM_001256789.3(CACNA1F):c.3725C>T (p.Ala1242Val)
|
|
|
NM_001256789.3(CACNA1F):c.3735G>T (p.Thr1245=)
|
|
|
NM_001256789.3(CACNA1F):c.3778G>A (p.Val1260Ile)
|
|
|
NM_001256789.3(CACNA1F):c.3791A>G (p.Asn1264Ser)
|
|
|
NM_001256789.3(CACNA1F):c.3792+17C>T
|
|
|
NM_001256789.3(CACNA1F):c.3792+2T>C
|
|
|
NM_001256789.3(CACNA1F):c.3793-1G>A
|
|
|
NM_001256789.3(CACNA1F):c.3793-3C>A
|
rs2065673899
|
|
NM_001256789.3(CACNA1F):c.3793-8C>A
|
|
|
NM_001256789.3(CACNA1F):c.381+16C>T
|
|
|
NM_001256789.3(CACNA1F):c.381+1G>A
|
rs2147925559
|
|
NM_001256789.3(CACNA1F):c.381+20A>C
|
|
|
NM_001256789.3(CACNA1F):c.381+7C>T
|
rs2147925556
|
|
NM_001256789.3(CACNA1F):c.3813+2T>C
|
rs971641043
|
|
NM_001256789.3(CACNA1F):c.3813+4G>A
|
rs782197383
|
|
NM_001256789.3(CACNA1F):c.3814-5C>G
|
rs2147899135
|
|
NM_001256789.3(CACNA1F):c.3814-9T>C
|
|
|
NM_001256789.3(CACNA1F):c.3816C>T (p.Ser1272=)
|
|
|
NM_001256789.3(CACNA1F):c.382-15dup
|
|
|
NM_001256789.3(CACNA1F):c.382-18C>T
|
rs1557111219
|
|
NM_001256789.3(CACNA1F):c.3829T>C (p.Ser1277Pro)
|
|
|
NM_001256789.3(CACNA1F):c.3849C>T (p.Phe1283=)
|
rs2147899066
|
|
NM_001256789.3(CACNA1F):c.3854G>A (p.Arg1285His)
|
|
|
NM_001256789.3(CACNA1F):c.3854del (p.Arg1285fs)
|
|
|
NM_001256789.3(CACNA1F):c.3862C>T (p.Arg1288Ter)
|
rs2065670611
|
|
NM_001256789.3(CACNA1F):c.3863G>A (p.Arg1288Gln)
|
|
|
NM_001256789.3(CACNA1F):c.3865G>A (p.Val1289Ile)
|
rs2147899019
|
|
NM_001256789.3(CACNA1F):c.3868A>G (p.Met1290Val)
|
rs200416937
|
|
NM_001256789.3(CACNA1F):c.3887T>A (p.Leu1296His)
|
rs2065670110
|
|
NM_001256789.3(CACNA1F):c.388G>C (p.Val130Leu)
|
|
|
NM_001256789.3(CACNA1F):c.3890G>A (p.Ser1297Asn)
|
|
|
NM_001256789.3(CACNA1F):c.3927del (p.Phe1309fs)
|
|
|
NM_001256789.3(CACNA1F):c.3932A>C (p.Lys1311Thr)
|
rs782023569
|
|
NM_001256789.3(CACNA1F):c.3932A>T (p.Lys1311Met)
|
|
|
NM_001256789.3(CACNA1F):c.3942+6C>T
|
|
|
NM_001256789.3(CACNA1F):c.3943-11C>A
|
|
|
NM_001256789.3(CACNA1F):c.3943-11dup
|
|
|
NM_001256789.3(CACNA1F):c.3943-17del
|
rs781910822
|
|
NM_001256789.3(CACNA1F):c.3943-19C>T
|
|
|
NM_001256789.3(CACNA1F):c.3943-20C>A
|
|
|
NM_001256789.3(CACNA1F):c.3953A>G (p.Tyr1318Cys)
|
rs2065664540
|
|
NM_001256789.3(CACNA1F):c.3955G>C (p.Val1319Leu)
|
rs2147898237
|
|
NM_001256789.3(CACNA1F):c.4008+15_4008+16insTA
|
|
|
NM_001256789.3(CACNA1F):c.4008+8_4008+13del
|
rs2065663700
|
|
NM_001256789.3(CACNA1F):c.4009-10G>A
|
|
|
NM_001256789.3(CACNA1F):c.4009-11T>G
|
|
|
NM_001256789.3(CACNA1F):c.4009-4A>G
|
|
|
NM_001256789.3(CACNA1F):c.4009-7T>G
|
|
|
NM_001256789.3(CACNA1F):c.4015G>A (p.Gly1339Ser)
|
|
|
NM_001256789.3(CACNA1F):c.4032G>A (p.Gln1344=)
|
|
|
NM_001256789.3(CACNA1F):c.404T>C (p.Leu135Pro)
|
|
|
NM_001256789.3(CACNA1F):c.4051C>G (p.Arg1351Gly)
|
|
|
NM_001256789.3(CACNA1F):c.4052G>A (p.Arg1351Gln)
|
|
|
NM_001256789.3(CACNA1F):c.4062C>G (p.Asn1354Lys)
|
rs1557106348
|
|
NM_001256789.3(CACNA1F):c.4091T>C (p.Leu1364Pro)
|
|
|
NM_001256789.3(CACNA1F):c.40C>A (p.Pro14Thr)
|
rs201861911
|
|
NM_001256789.3(CACNA1F):c.40C>T (p.Pro14Ser)
|
|
|
NM_001256789.3(CACNA1F):c.4100+16T>C
|
rs2147897695
|
|
NM_001256789.3(CACNA1F):c.4100+7T>C
|
|
|
NM_001256789.3(CACNA1F):c.4101-2A>T
|
|
|
NM_001256789.3(CACNA1F):c.4101-3C>A
|
rs2065657280
|
|
NM_001256789.3(CACNA1F):c.4101-4C>A
|
rs376118598
|
|
NM_001256789.3(CACNA1F):c.4101-4C>T
|
rs376118598
|
|
NM_001256789.3(CACNA1F):c.4101-8C>T
|
|
|
NM_001256789.3(CACNA1F):c.4128G>C (p.Glu1376Asp)
|
|
|
NM_001256789.3(CACNA1F):c.4141A>G (p.Ser1381Gly)
|
rs2065656975
|
|
NM_001256789.3(CACNA1F):c.4149C>T (p.Pro1383=)
|
|
|
NM_001256789.3(CACNA1F):c.4157G>A (p.Arg1386Gln)
|
|
|
NM_001256789.3(CACNA1F):c.4160G>A (p.Cys1387Tyr)
|
rs2147897149
|
|
NM_001256789.3(CACNA1F):c.4171T>C (p.Ser1391Pro)
|
|
|
NM_001256789.3(CACNA1F):c.4179C>A (p.Phe1393Leu)
|
|
|
NM_001256789.3(CACNA1F):c.4180G>A (p.Gly1394Ser)
|
rs35212576
|
|
NM_001256789.3(CACNA1F):c.4180G>C (p.Gly1394Arg)
|
|
|
NM_001256789.3(CACNA1F):c.4199C>A (p.Thr1400Asn)
|
|
|
NM_001256789.3(CACNA1F):c.4243A>G (p.Met1415Val)
|
|
|
NM_001256789.3(CACNA1F):c.4260+1G>A
|
rs2147897025
|
|
NM_001256789.3(CACNA1F):c.4260+2del
|
rs2065655753
|
|
NM_001256789.3(CACNA1F):c.4260+9C>G
|
|
|
NM_001256789.3(CACNA1F):c.4261-18T>C
|
|
|
NM_001256789.3(CACNA1F):c.4261-4A>G
|
|
|
NM_001256789.3(CACNA1F):c.4278G>C (p.Val1426=)
|
rs1557106124
|
|
NM_001256789.3(CACNA1F):c.4287C>A (p.Ile1429=)
|
|
|
NM_001256789.3(CACNA1F):c.4332C>T (p.Gly1444=)
|
|
|
NM_001256789.3(CACNA1F):c.4343T>A (p.Leu1448His)
|
rs2065652483
|
|
NM_001256789.3(CACNA1F):c.4389-1G>A
|
|
|
NM_001256789.3(CACNA1F):c.4394G>A (p.Arg1465His)
|
|
|
NM_001256789.3(CACNA1F):c.4398C>T (p.Ile1466=)
|
rs1422013184
|
|
NM_001256789.3(CACNA1F):c.43A>G (p.Ser15Gly)
|
|
|
NM_001256789.3(CACNA1F):c.4424T>C (p.Leu1475Pro)
|
|
|
NM_001256789.3(CACNA1F):c.4440C>G (p.Pro1480=)
|
|
|
NM_001256789.3(CACNA1F):c.4447G>C (p.Gly1483Arg)
|
|
|
NM_001256789.3(CACNA1F):c.4463G>C (p.Cys1488Ser)
|
rs2147896120
|
|
NM_001256789.3(CACNA1F):c.4467A>C (p.Pro1489=)
|
rs199990102
|
|
NM_001256789.3(CACNA1F):c.4472G>A (p.Arg1491Gln)
|
rs2147896102
|
|
NM_001256789.3(CACNA1F):c.447C>T (p.Tyr149=)
|
|
|
NM_001256789.3(CACNA1F):c.4480T>C (p.Cys1494Arg)
|
|
|
NM_001256789.3(CACNA1F):c.4485+7G>A
|
|
|
NM_001256789.3(CACNA1F):c.448G>C (p.Gly150Arg)
|
rs2147924995
|
|
NM_001256789.3(CACNA1F):c.448G>T (p.Gly150Trp)
|
rs2147924995
|
|
NM_001256789.3(CACNA1F):c.449G>T (p.Gly150Val)
|
rs2065871508
|
|
NM_001256789.3(CACNA1F):c.468C>A (p.Ser156Arg)
|
|
|
NM_001256789.3(CACNA1F):c.468C>G (p.Ser156Arg)
|
rs1557111180
|
|
NM_001256789.3(CACNA1F):c.477C>T (p.Ile159=)
|
|
|
NM_001256789.3(CACNA1F):c.4947T>A (p.Thr1649=)
|
rs2147894202
|
|
NM_001256789.3(CACNA1F):c.4954-4A>G
|
rs2147893542
|
|
NM_001256789.3(CACNA1F):c.4974C>T (p.Pro1658=)
|
|
|
NM_001256789.3(CACNA1F):c.4988G>C (p.Gly1663Ala)
|
|
|
NM_001256789.3(CACNA1F):c.498C>A (p.Leu166=)
|
rs2147924902
|
|
NM_001256789.3(CACNA1F):c.498C>G (p.Leu166=)
|
|
|
NM_001256789.3(CACNA1F):c.498_502del (p.Asp167fs)
|
|
|
NM_001256789.3(CACNA1F):c.4993G>A (p.Gly1665Arg)
|
|
|
NM_001256789.3(CACNA1F):c.5004_5005del (p.Leu1670fs)
|
rs1557105474
|
|
NM_001256789.3(CACNA1F):c.5009T>C (p.Leu1670Pro)
|
|
|
NM_001256789.3(CACNA1F):c.5016C>G (p.Val1672=)
|
rs1343166677
|
|
NM_001256789.3(CACNA1F):c.5017G>C (p.Gly1673Arg)
|
rs139409733
|
|
NM_001256789.3(CACNA1F):c.5017G>T (p.Gly1673Trp)
|
rs139409733
|
|
NM_001256789.3(CACNA1F):c.5022C>T (p.Asp1674=)
|
rs2147893362
|
|
NM_001256789.3(CACNA1F):c.505A>T (p.Ile169Phe)
|
rs2147924897
|
|
NM_001256789.3(CACNA1F):c.5063A>C (p.Asp1688Ala)
|
rs370973988
|
|
NM_001256789.3(CACNA1F):c.5064C>T (p.Asp1688=)
|
rs2147893264
|
|
NM_001256789.3(CACNA1F):c.5067G>A (p.Arg1689=)
|
|
|
NM_001256789.3(CACNA1F):c.5070G>T (p.Gly1690=)
|
rs2147893246
|
|
NM_001256789.3(CACNA1F):c.5105C>T (p.Ala1702Val)
|
|
|
NM_001256789.3(CACNA1F):c.511G>A (p.Val171Ile)
|
rs1557111160
|
|
NM_001256789.3(CACNA1F):c.5123+18G>A
|
|
|
NM_001256789.3(CACNA1F):c.5124-2_5124-1del
|
|
|
NM_001256789.3(CACNA1F):c.5126G>A (p.Arg1709Lys)
|
|
|
NM_001256789.3(CACNA1F):c.513C>A (p.Val171=)
|
rs2065870794
|
|
NM_001256789.3(CACNA1F):c.5159AAG[1] (p.Glu1721del)
|
rs1273599915
|
|
NM_001256789.3(CACNA1F):c.5161G>A (p.Glu1721Lys)
|
|
|
NM_001256789.3(CACNA1F):c.5187del (p.Gln1732fs)
|
rs2147891252
|
|
NM_001256789.3(CACNA1F):c.5188A>C (p.Lys1730Gln)
|
|
|
NM_001256789.3(CACNA1F):c.5198dup (p.Asn1733fs)
|
|
|
NM_001256789.3(CACNA1F):c.5208T>C (p.Asp1736=)
|
rs1449933987
|
|
NM_001256789.3(CACNA1F):c.521+1G>A
|
|
|
NM_001256789.3(CACNA1F):c.522-18C>T
|
|
|
NM_001256789.3(CACNA1F):c.522-1G>A
|
|
|
NM_001256789.3(CACNA1F):c.5231+19A>G
|
rs1243204603
|
|
NM_001256789.3(CACNA1F):c.5231G>A (p.Arg1744Gln)
|
|
|
NM_001256789.3(CACNA1F):c.5232-5C>T
|
|
|
NM_001256789.3(CACNA1F):c.5232-6A>C
|
|
|
NM_001256789.3(CACNA1F):c.5248G>A (p.Glu1750Lys)
|
rs2065602555
|
|
NM_001256789.3(CACNA1F):c.5267C>T (p.Pro1756Leu)
|
|
|
NM_001256789.3(CACNA1F):c.5268G>A (p.Pro1756=)
|
|
|
NM_001256789.3(CACNA1F):c.5270G>A (p.Cys1757Tyr)
|
|
|
NM_001256789.3(CACNA1F):c.5299C>T (p.Gln1767Ter)
|
|
|
NM_001256789.3(CACNA1F):c.5319C>T (p.His1773=)
|
|
|
NM_001256789.3(CACNA1F):c.532G>A (p.Val178Ile)
|
rs2147924566
|
|
NM_001256789.3(CACNA1F):c.5349C>T (p.Pro1783=)
|
rs782703688
|
|
NM_001256789.3(CACNA1F):c.5349del (p.Thr1784fs)
|
|
|
NM_001256789.3(CACNA1F):c.5356G>A (p.Ala1786Thr)
|
|
|
NM_001256789.3(CACNA1F):c.5360-14C>T
|
|
|
NM_001256789.3(CACNA1F):c.5360-19G>A
|
rs1253426368
|
|
NM_001256789.3(CACNA1F):c.5360-19G>C
|
|
|
NM_001256789.3(CACNA1F):c.5372C>G (p.Ser1791Cys)
|
|
|
NM_001256789.3(CACNA1F):c.5372C>T (p.Ser1791Phe)
|
rs1602621312
|
|
NM_001256789.3(CACNA1F):c.5395C>T (p.Arg1799Cys)
|
|
|
NM_001256789.3(CACNA1F):c.5396G>A (p.Arg1799His)
|
|
|
NM_001256789.3(CACNA1F):c.53A>G (p.Asn18Ser)
|
rs2147926583
|
|
NM_001256789.3(CACNA1F):c.5402_5403delinsAA (p.Gly1801Glu)
|
|
|
NM_001256789.3(CACNA1F):c.5406T>C (p.Ser1802=)
|
rs2147890414
|
|
NM_001256789.3(CACNA1F):c.5417_5423del (p.Leu1806fs)
|
|
|
NM_001256789.3(CACNA1F):c.5432C>T (p.Thr1811Ile)
|
|
|
NM_001256789.3(CACNA1F):c.544C>T (p.Gln182Ter)
|
|
|
NM_001256789.3(CACNA1F):c.546G>T (p.Gln182His)
|
|
|
NM_001256789.3(CACNA1F):c.5473-1G>A
|
|
|
NM_001256789.3(CACNA1F):c.553G>T (p.Gly185Ter)
|
|
|
NM_001256789.3(CACNA1F):c.5547G>A (p.Ala1849=)
|
|
|
NM_001256789.3(CACNA1F):c.5550G>A (p.Gly1850=)
|
rs2147889124
|
|
NM_001256789.3(CACNA1F):c.5551G>A (p.Glu1851Lys)
|
|
|
NM_001256789.3(CACNA1F):c.5572A>G (p.Ser1858Gly)
|
rs1207518269
|
|
NM_001256789.3(CACNA1F):c.5577C>G (p.Gly1859=)
|
|
|
NM_001256789.3(CACNA1F):c.5583G>A (p.Leu1861=)
|
|
|
NM_001256789.3(CACNA1F):c.5584C>G (p.Arg1862Gly)
|
rs781892194
|
|
NM_001256789.3(CACNA1F):c.5585G>A (p.Arg1862His)
|
|
|
NM_001256789.3(CACNA1F):c.5586C>T (p.Arg1862=)
|
|
|
NM_001256789.3(CACNA1F):c.5594C>G (p.Thr1865Ser)
|
|
|
NM_001256789.3(CACNA1F):c.5596T>C (p.Cys1866Arg)
|
rs2065587479
|
|
NM_001256789.3(CACNA1F):c.5597G>T (p.Cys1866Phe)
|
rs374860668
|
|
NM_001256789.3(CACNA1F):c.5602C>T (p.His1868Tyr)
|
rs2147888917
|
|
NM_001256789.3(CACNA1F):c.5605G>A (p.Val1869Met)
|
|
|
NM_001256789.3(CACNA1F):c.5617C>A (p.His1873Asn)
|
|
|
NM_001256789.3(CACNA1F):c.5618A>G (p.His1873Arg)
|
|
|
NM_001256789.3(CACNA1F):c.5622G>A (p.Ser1874=)
|
|
|
NM_001256789.3(CACNA1F):c.5651C>G (p.Ala1884Gly)
|
|
|
NM_001256789.3(CACNA1F):c.5668G>A (p.Ala1890Thr)
|
rs2065586286
|
|
NM_001256789.3(CACNA1F):c.5670+14G>A
|
|
|
NM_001256789.3(CACNA1F):c.5670+19T>C
|
|
|
NM_001256789.3(CACNA1F):c.5670+2_5670+3del
|
|
|
NM_001256789.3(CACNA1F):c.5670+3G>A
|
|
|
NM_001256789.3(CACNA1F):c.5672T>C (p.Val1891Ala)
|
|
|
NM_001256789.3(CACNA1F):c.567C>T (p.Asp189=)
|
|
|
NM_001256789.3(CACNA1F):c.5703T>C (p.Ala1901=)
|
|
|
NM_001256789.3(CACNA1F):c.5729C>A (p.Ala1910Asp)
|
|
|
NM_001256789.3(CACNA1F):c.5733G>A (p.Lys1911=)
|
|
|
NM_001256789.3(CACNA1F):c.5756_5757delinsAT (p.Arg1919His)
|
rs2147888255
|
|
NM_001256789.3(CACNA1F):c.5775G>T (p.Met1925Ile)
|
|
|
NM_001256789.3(CACNA1F):c.5807G>A (p.Gly1936Glu)
|
rs1569527294
|
|
NM_001256789.3(CACNA1F):c.580G>T (p.Gly194Trp)
|
rs868951993
|
|
NM_001256789.3(CACNA1F):c.5822A>C (p.Tyr1941Ser)
|
rs2147888089
|
|
NM_001256789.3(CACNA1F):c.5826C>T (p.Ser1942=)
|
|
|
NM_001256789.3(CACNA1F):c.5827G>C (p.Asp1943His)
|
|
|
NM_001256789.3(CACNA1F):c.5830G>A (p.Glu1944Lys)
|
|
|
NM_001256789.3(CACNA1F):c.5836T>G (p.Ser1946Ala)
|
rs1372478610
|
|
NM_001256789.3(CACNA1F):c.5847C>T (p.Ser1949=)
|
|
|
NM_001256789.3(CACNA1F):c.5849G>A (p.Arg1950His)
|
rs782337448
|
|
NM_001256789.3(CACNA1F):c.5849G>T (p.Arg1950Leu)
|
rs782337448
|
|
NM_001256789.3(CACNA1F):c.584G>A (p.Gly195Glu)
|
|
|
NM_001256789.3(CACNA1F):c.584dup (p.Pro197fs)
|
rs1557111077
|
|
NM_001256789.3(CACNA1F):c.5854G>A (p.Asp1952Asn)
|
rs145627424
|
|
NM_001256789.3(CACNA1F):c.5874C>G (p.Asp1958Glu)
|
|
|
NM_001256789.3(CACNA1F):c.5886C>T (p.Cys1962=)
|
|
|
NM_001256789.3(CACNA1F):c.5887G>A (p.Val1963Ile)
|
|
|
NM_001256789.3(CACNA1F):c.5893G>A (p.Ala1965Thr)
|
|
|
NM_001256789.3(CACNA1F):c.601G>A (p.Asp201Asn)
|
|
|
NM_001256789.3(CACNA1F):c.620C>T (p.Ala207Val)
|
|
|
NM_001256789.3(CACNA1F):c.621G>A (p.Ala207=)
|
|
|
NM_001256789.3(CACNA1F):c.641T>A (p.Leu214Gln)
|
|
|
NM_001256789.3(CACNA1F):c.657G>A (p.Gly219=)
|
rs2147924330
|
|
NM_001256789.3(CACNA1F):c.664+16C>T
|
rs2147924281
|
|
NM_001256789.3(CACNA1F):c.664+18C>T
|
|
|
NM_001256789.3(CACNA1F):c.664+9C>T
|
|
|
NM_001256789.3(CACNA1F):c.665-15C>G
|
rs2147924176
|
|
NM_001256789.3(CACNA1F):c.665-15C>T
|
rs2147924176
|
|
NM_001256789.3(CACNA1F):c.665-1G>A
|
rs2147924133
|
|
NM_001256789.3(CACNA1F):c.665-20C>T
|
|
|
NM_001256789.3(CACNA1F):c.66T>C (p.Pro22=)
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|
|
NM_001256789.3(CACNA1F):c.682A>G (p.Asn228Asp)
|
rs2065864779
|
|
NM_001256789.3(CACNA1F):c.68G>C (p.Gly23Ala)
|
rs1557111475
|
|
NM_001256789.3(CACNA1F):c.693_699dup (p.Leu234fs)
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|
|
NM_001256789.3(CACNA1F):c.707C>T (p.Pro236Leu)
|
|
|
NM_001256789.3(CACNA1F):c.70C>T (p.Pro24Ser)
|
rs2147926564
|
|
NM_001256789.3(CACNA1F):c.710T>A (p.Leu237Gln)
|
rs2147924072
|
|
NM_001256789.3(CACNA1F):c.711G>C (p.Leu237=)
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|
|
NM_001256789.3(CACNA1F):c.732G>A (p.Val244=)
|
|
|
NM_001256789.3(CACNA1F):c.742A>G (p.Ile248Val)
|
|
|
NM_001256789.3(CACNA1F):c.769G>A (p.Glu257Lys)
|
|
|
NM_001256789.3(CACNA1F):c.773T>C (p.Leu258Pro)
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|
|
NM_001256789.3(CACNA1F):c.791A>G (p.His264Arg)
|
rs1557110986
|
|
NM_001256789.3(CACNA1F):c.805T>A (p.Phe269Ile)
|
rs2065863660
|
|
NM_001256789.3(CACNA1F):c.810G>A (p.Leu270=)
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|
|
NM_001256789.3(CACNA1F):c.817+12C>G
|
rs1483222795
|
|
NM_001256789.3(CACNA1F):c.817+14C>A
|
|
|
NM_001256789.3(CACNA1F):c.817+3T>C
|
|
|
NM_001256789.3(CACNA1F):c.817+8T>C
|
rs2147923904
|
|
NM_001256789.3(CACNA1F):c.81G>T (p.Gly27=)
|
|
|
NM_001256789.3(CACNA1F):c.823del (p.Glu275fs)
|
rs2147921791
|
|
NM_001256789.3(CACNA1F):c.828G>A (p.Ala276=)
|
|
|
NM_001256789.3(CACNA1F):c.843G>C (p.Ser281=)
|
rs369660305
|
|
NM_001256789.3(CACNA1F):c.850_853del (p.Ala284fs)
|
|
|
NM_001256789.3(CACNA1F):c.851C>G (p.Ala284Gly)
|
|
|
NM_001256789.3(CACNA1F):c.85T>G (p.Cys29Gly)
|
rs924041421
|
|
NM_001256789.3(CACNA1F):c.860G>T (p.Gly287Val)
|
|
|
NM_001256789.3(CACNA1F):c.875G>A (p.Cys292Tyr)
|
rs2065845370
|
|
NM_001256789.3(CACNA1F):c.897C>A (p.Cys299Ter)
|
rs2065845144
|
|
NM_001256789.3(CACNA1F):c.901G>C (p.Gly301Arg)
|
|
|
NM_001256789.3(CACNA1F):c.90C>G (p.Pro30=)
|
|
|
NM_001256789.3(CACNA1F):c.917C>T (p.Pro306Leu)
|
|
|
NM_001256789.3(CACNA1F):c.920A>G (p.Asn307Ser)
|
|
|
NM_001256789.3(CACNA1F):c.946TTC[2] (p.Phe318del)
|
rs1557110499
|
|
NM_001256789.3(CACNA1F):c.94C>T (p.Pro32Ser)
|
|
|
NM_001256789.3(CACNA1F):c.951C>A (p.Phe317Leu)
|
|
|
NM_001256789.3(CACNA1F):c.955G>T (p.Ala319Ser)
|
|
|
NM_001256789.3(CACNA1F):c.978T>C (p.Cys326=)
|
|
|
NM_005183.2(CACNA1F):c.276delG
|
rs886041479
|
|