NM_001127222.2(CACNA1A):c.1987-98C>T
|
rs4926263
|
0.99259
|
NM_001127222.2(CACNA1A):c.6526+137A>G
|
rs10413221
|
0.98446
|
NM_001127222.2(CACNA1A):c.4950+96A>C
|
rs16039
|
0.97758
|
NM_001127222.2(CACNA1A):c.1199-31A>G
|
rs16008
|
0.81362
|
NM_001127222.2(CACNA1A):c.5941-205T>C
|
rs2419233
|
0.76943
|
NM_001127222.2(CACNA1A):c.6657T>C (p.His2219=)
|
rs16051
|
0.67380
|
NM_001127222.2(CACNA1A):c.2173-12C>T
|
rs16018
|
0.66161
|
NM_001127222.2(CACNA1A):c.1198+48G>A
|
rs2306348
|
0.64420
|
NM_001127222.2(CACNA1A):c.1182G>A (p.Glu394=)
|
rs2248069
|
0.64010
|
NM_001127222.2(CACNA1A):c.4867-71A>C
|
rs16035
|
0.59301
|
NM_001127222.2(CACNA1A):c.5731+49C>T
|
rs3816027
|
0.54210
|
NM_001127222.2(CACNA1A):c.4089+71T>C
|
rs16031
|
0.53636
|
NM_001127222.2(CACNA1A):c.293+53G>A
|
rs16003
|
0.45781
|
NM_001127222.2(CACNA1A):c.2280-68C>A
|
rs12985136
|
0.45430
|
NM_001127222.2(CACNA1A):c.4756-97G>A
|
rs8103699
|
0.24285
|
NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys)
|
rs16024
|
0.00390
|
NM_001127222.2(CACNA1A):c.3227C>T (p.Ala1076Val)
|
rs199512932
|
0.00024
|
NM_001127222.2(CACNA1A):c.6527G>T (p.Gly2176Val)
|
rs763045560
|
0.00008
|
NM_001127222.2(CACNA1A):c.6077A>G (p.Glu2026Gly)
|
rs771768635
|
0.00006
|
NM_001127222.2(CACNA1A):c.2881C>T (p.His961Tyr)
|
rs1406066197
|
0.00004
|
NM_001127222.2(CACNA1A):c.3547G>A (p.Val1183Ile)
|
rs373224251
|
0.00004
|
NM_001127222.2(CACNA1A):c.2879C>T (p.Ala960Val)
|
rs762396014
|
0.00003
|
NM_001127222.2(CACNA1A):c.3784G>A (p.Ala1262Thr)
|
rs776503550
|
0.00003
|
NM_001127222.2(CACNA1A):c.5810C>T (p.Thr1937Met)
|
rs771104002
|
0.00003
|
NM_001127222.2(CACNA1A):c.29C>T (p.Ala10Val)
|
rs952757731
|
0.00002
|
NM_001127222.2(CACNA1A):c.6550A>G (p.Thr2184Ala)
|
rs1028538547
|
0.00002
|
NM_001127222.2(CACNA1A):c.1213G>A (p.Ala405Thr)
|
rs121908245
|
0.00001
|
NM_001127222.2(CACNA1A):c.1611G>T (p.Met537Ile)
|
rs752572390
|
0.00001
|
NM_001127222.2(CACNA1A):c.1810G>A (p.Val604Ile)
|
rs756562814
|
0.00001
|
NM_001127222.2(CACNA1A):c.2287C>A (p.Gln763Lys)
|
rs2057741441
|
0.00001
|
NM_001127222.2(CACNA1A):c.2404C>A (p.Arg802Ser)
|
rs760816963
|
0.00001
|
NM_001127222.2(CACNA1A):c.2842C>T (p.Arg948Cys)
|
rs16978975
|
0.00001
|
NM_001127222.2(CACNA1A):c.4978C>T (p.Arg1660Cys)
|
rs779576853
|
0.00001
|
NM_001127222.2(CACNA1A):c.5015G>A (p.Arg1672His)
|
rs1057519429
|
0.00001
|
NC_000019.9:g.(13470614_13476130)_(13566027_13616745)dup
|
|
|
NM_001127222.2(CACNA1A):c.1106G>A (p.Arg369Gln)
|
|
|
NM_001127222.2(CACNA1A):c.1199-7T>A
|
rs2145126181
|
|
NM_001127222.2(CACNA1A):c.124C>T (p.Pro42Ser)
|
rs2145192584
|
|
NM_001127222.2(CACNA1A):c.1282del (p.Ser428fs)
|
|
|
NM_001127222.2(CACNA1A):c.1321C>T (p.Gln441Ter)
|
|
|
NM_001127222.2(CACNA1A):c.1555+3_1555+6del
|
rs2058143459
|
|
NM_001127222.2(CACNA1A):c.175A>G (p.Met59Val)
|
rs1599396496
|
|
NM_001127222.2(CACNA1A):c.1767T>G (p.Ile589Met)
|
|
|
NM_001127222.2(CACNA1A):c.1781A>C (p.Lys594Thr)
|
rs2145005448
|
|
NM_001127222.2(CACNA1A):c.1851G>C (p.Leu617Phe)
|
|
|
NM_001127222.2(CACNA1A):c.185A>G (p.Tyr62Cys)
|
|
|
NM_001127222.2(CACNA1A):c.1876G>A (p.Val626Ile)
|
rs1346036017
|
|
NM_001127222.2(CACNA1A):c.1883C>T (p.Ala628Val)
|
rs1600292507
|
|
NM_001127222.2(CACNA1A):c.1898A>G (p.Gln633Arg)
|
rs2057946815
|
|
NM_001127222.2(CACNA1A):c.190C>T (p.Pro64Ser)
|
rs1982996175
|
|
NM_001127222.2(CACNA1A):c.1924G>A (p.Asp642Asn)
|
rs2057938033
|
|
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met)
|
rs121908212
|
|
NM_001127222.2(CACNA1A):c.2006G>A (p.Trp669Ter)
|
rs1555757537
|
|
NM_001127222.2(CACNA1A):c.2039_2040del (p.Gln680fs)
|
rs1064794262
|
|
NM_001127222.2(CACNA1A):c.2039del (p.Gln680fs)
|
rs1555757523
|
|
NM_001127222.2(CACNA1A):c.2124C>A (p.Phe708Leu)
|
rs762654239
|
|
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)
|
|
|
NM_001127222.2(CACNA1A):c.2134G>T (p.Ala712Ser)
|
rs886037945
|
|
NM_001127222.2(CACNA1A):c.2144A>C (p.Asn715Thr)
|
rs1555757432
|
|
NM_001127222.2(CACNA1A):c.2172+14G>A
|
rs1195908031
|
|
NM_001127222.2(CACNA1A):c.2202C>A (p.Asn734Lys)
|
rs2057768031
|
|
NM_001127222.2(CACNA1A):c.2343dup (p.Arg782fs)
|
|
|
NM_001127222.2(CACNA1A):c.2598_2599dup (p.Arg867fs)
|
rs2144956340
|
|
NM_001127222.2(CACNA1A):c.2602del (p.Ala868fs)
|
|
|
NM_001127222.2(CACNA1A):c.2621C>T (p.Ser874Leu)
|
rs1057522802
|
|
NM_001127222.2(CACNA1A):c.2674A>G (p.Ser892Gly)
|
rs2057731579
|
|
NM_001127222.2(CACNA1A):c.2692G>C (p.Gly898Arg)
|
rs751726770
|
|
NM_001127222.2(CACNA1A):c.2752G>T (p.Gly918Cys)
|
rs2144955129
|
|
NM_001127222.2(CACNA1A):c.2804_2814dup (p.Ser939fs)
|
rs1600272344
|
|
NM_001127222.2(CACNA1A):c.2812_2813del (p.Gly938fs)
|
|
|
NM_001127222.2(CACNA1A):c.2813G>A (p.Gly938Asp)
|
rs747413278
|
|
NM_001127222.2(CACNA1A):c.2867G>A (p.Arg956Gln)
|
rs551380805
|
|
NM_001127222.2(CACNA1A):c.2924G>A (p.Arg975Gln)
|
rs748418783
|
|
NM_001127222.2(CACNA1A):c.2968GAGGGC[4] (p.990EG[4])
|
rs764399373
|
|
NM_001127222.2(CACNA1A):c.301G>C (p.Glu101Gln)
|
rs886037944
|
|
NM_001127222.2(CACNA1A):c.3058_3075dup (p.Arg1025_His1026insGluAspLysGluArgArg)
|
|
|
NM_001127222.2(CACNA1A):c.3134C>G (p.Ser1045Ter)
|
rs2144889289
|
|
NM_001127222.2(CACNA1A):c.3143G>A (p.Arg1048Gln)
|
|
|
NM_001127222.2(CACNA1A):c.3145C>A (p.Pro1049Thr)
|
rs2057414205
|
|
NM_001127222.2(CACNA1A):c.322A>G (p.Ile108Val)
|
rs1599294284
|
|
NM_001127222.2(CACNA1A):c.3478_3479del (p.Ala1160fs)
|
rs2057404744
|
|
NM_001127222.2(CACNA1A):c.34T>C (p.Tyr12His)
|
|
|
NM_001127222.2(CACNA1A):c.3606GGA[3] (p.Glu1206del)
|
rs750826355
|
|
NM_001127222.2(CACNA1A):c.3637G>A (p.Gly1213Ser)
|
rs767000559
|
|
NM_001127222.2(CACNA1A):c.3643A>G (p.Lys1215Glu)
|
rs1476884019
|
|
NM_001127222.2(CACNA1A):c.3652C>T (p.Pro1218Ser)
|
|
|
NM_001127222.2(CACNA1A):c.3692+1G>A
|
rs1315533129
|
|
NM_001127222.2(CACNA1A):c.3697C>T (p.Arg1233Cys)
|
rs2057333004
|
|
NM_001127222.2(CACNA1A):c.3822+1G>A
|
rs794727355
|
|
NM_001127222.2(CACNA1A):c.3822+70A>G
|
rs1462524553
|
|
NM_001127222.2(CACNA1A):c.4028C>A (p.Ser1343Tyr)
|
rs2056767982
|
|
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln)
|
rs1057520918
|
|
NM_001127222.2(CACNA1A):c.4051C>T (p.Arg1351Ter)
|
rs1568473171
|
|
NM_001127222.2(CACNA1A):c.4052G>A (p.Arg1351Gln)
|
rs1555745467
|
|
NM_001127222.2(CACNA1A):c.4055C>T (p.Pro1352Leu)
|
rs1064794808
|
|
NM_001127222.2(CACNA1A):c.4064C>A (p.Thr1355Asn)
|
rs2056767062
|
|
NM_001127222.2(CACNA1A):c.4067_4069del (p.Ile1356del)
|
|
|
NM_001127222.2(CACNA1A):c.4261del (p.Leu1421fs)
|
|
|
NM_001127222.2(CACNA1A):c.4270G>T (p.Glu1424Ter)
|
|
|
NM_001127222.2(CACNA1A):c.4298G>A (p.Arg1433Gln)
|
rs2144758462
|
|
NM_001127222.2(CACNA1A):c.4328A>G (p.Asp1443Gly)
|
rs2056674575
|
|
NM_001127222.2(CACNA1A):c.436_437insG (p.Phe146fs)
|
|
|
NM_001127222.2(CACNA1A):c.4471G>A (p.Val1491Ile)
|
|
|
NM_001127222.2(CACNA1A):c.4519G>T (p.Ala1507Ser)
|
rs886037946
|
|
NM_001127222.2(CACNA1A):c.4549G>A (p.Gly1517Arg)
|
rs2144748225
|
|
NM_001127222.2(CACNA1A):c.4550G>T (p.Gly1517Val)
|
rs2144748218
|
|
NM_001127222.2(CACNA1A):c.4866+1G>T
|
rs2144725957
|
|
NM_001127222.2(CACNA1A):c.4927G>A (p.Asp1643Asn)
|
rs1064795531
|
|
NM_001127222.2(CACNA1A):c.4927G>T (p.Asp1643Tyr)
|
|
|
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln)
|
rs121908247
|
|
NM_001127222.2(CACNA1A):c.5014C>T (p.Arg1672Cys)
|
rs794727558
|
|
NM_001127222.2(CACNA1A):c.5021del (p.Gly1674fs)
|
|
|
NM_001127222.2(CACNA1A):c.5033dup (p.Ile1679fs)
|
|
|
NM_001127222.2(CACNA1A):c.5072T>A (p.Leu1691Gln)
|
rs2055835744
|
|
NM_001127222.2(CACNA1A):c.5233C>T (p.Leu1745Phe)
|
rs2055823924
|
|
NM_001127222.2(CACNA1A):c.5238dup (p.Leu1747fs)
|
|
|
NM_001127222.2(CACNA1A):c.5250-2A>G
|
|
|
NM_001127222.2(CACNA1A):c.5393C>T (p.Ser1798Leu)
|
rs1064794261
|
|
NM_001127222.2(CACNA1A):c.5419G>A (p.Ala1807Thr)
|
rs1555736565
|
|
NM_001127222.2(CACNA1A):c.5477A>G (p.His1826Arg)
|
rs2055610097
|
|
NM_001127222.2(CACNA1A):c.548C>T (p.Ala183Val)
|
|
|
NM_001127222.2(CACNA1A):c.5529-1241_5529-1240del
|
rs1568440440
|
|
NM_001127222.2(CACNA1A):c.5531G>A (p.Gly1844Asp)
|
|
|
NM_001127222.2(CACNA1A):c.5534G>A (p.Arg1845His)
|
|
|
NM_001127222.2(CACNA1A):c.5625+50CTT[4]
|
rs143245670
|
|
NM_001127222.2(CACNA1A):c.5690T>G (p.Met1897Arg)
|
rs2144595037
|
|
NM_001127222.2(CACNA1A):c.5720A>G (p.Lys1907Arg)
|
rs2144594984
|
|
NM_001127222.2(CACNA1A):c.5735G>A (p.Gly1912Glu)
|
rs2054931821
|
|
NM_001127222.2(CACNA1A):c.5879T>A (p.Met1960Lys)
|
|
|
NM_001127222.2(CACNA1A):c.592C>T (p.Arg198Ter)
|
rs886042230
|
|
NM_001127222.2(CACNA1A):c.5940+18C>G
|
rs1057522421
|
|
NM_001127222.2(CACNA1A):c.6004G>A (p.Gly2002Ser)
|
rs1568424111
|
|
NM_001127222.2(CACNA1A):c.6103G>T (p.Ala2035Ser)
|
|
|
NM_001127222.2(CACNA1A):c.6113T>C (p.Met2038Thr)
|
|
|
NM_001127222.2(CACNA1A):c.6181_6184del (p.Asn2061fs)
|
rs2144524434
|
|
NM_001127222.2(CACNA1A):c.6189+74A>C
|
rs16048
|
|
NM_001127222.2(CACNA1A):c.6209T>C (p.Met2070Thr)
|
rs2144523250
|
|
NM_001127222.2(CACNA1A):c.6303+94del
|
rs3217380
|
|
NM_001127222.2(CACNA1A):c.6397C>T (p.Arg2133Ter)
|
rs1555730878
|
|
NM_001127222.2(CACNA1A):c.6484G>A (p.Ala2162Thr)
|
rs17846928
|
|
NM_001127222.2(CACNA1A):c.6506G>T (p.Arg2169Leu)
|
rs1417890059
|
|
NM_001127222.2(CACNA1A):c.6526+124G>C
|
rs2304093
|
|
NM_001127222.2(CACNA1A):c.653C>T (p.Ser218Leu)
|
rs121908225
|
|
NM_001127222.2(CACNA1A):c.6587_6598dup (p.Arg2199_Gly2200insAspGlnGluArg)
|
|
|
NM_001127222.2(CACNA1A):c.6691del (p.Glu2231fs)
|
rs2144501233
|
|
NM_001127222.2(CACNA1A):c.674C>G (p.Pro225Arg)
|
rs2059190701
|
|
NM_001127222.2(CACNA1A):c.6862del (p.Gln2288fs)
|
rs2144493067
|
|
NM_001127222.2(CACNA1A):c.688G>A (p.Gly230Ser)
|
rs1555774859
|
|
NM_001127222.2(CACNA1A):c.6901C>G (p.Pro2301Ala)
|
rs1351010453
|
|
NM_001127222.2(CACNA1A):c.7136C>T (p.Ser2379Phe)
|
rs2054617641
|
|
NM_001127222.2(CACNA1A):c.7235G>T (p.Gly2412Val)
|
rs775829854
|
|
NM_001127222.2(CACNA1A):c.7316C>T (p.Pro2439Leu)
|
rs1235870142
|
|
NM_001127222.2(CACNA1A):c.7318G>A (p.Val2440Ile)
|
|
|
NM_001127222.2(CACNA1A):c.7348C>T (p.Arg2450Cys)
|
rs1397153104
|
|
NM_001127222.2(CACNA1A):c.7400G>C (p.Arg2467Pro)
|
rs1199275549
|
|
NM_001127222.2(CACNA1A):c.7445T>G (p.Leu2482Arg)
|
rs2144488387
|
|
NM_001127222.2(CACNA1A):c.7485C>G (p.His2495Gln)
|
|
|
NM_001127222.2(CACNA1A):c.781del (p.Thr261fs)
|
rs2059189334
|
|
NM_001127222.2(CACNA1A):c.832G>A (p.Ala278Thr)
|
rs1013100046
|
|
NM_001127222.2(CACNA1A):c.835C>T (p.Arg279Cys)
|
rs1555773764
|
|
NM_001127222.2(CACNA1A):c.851G>T (p.Gly284Val)
|
rs1555773757
|
|