NM_001127222.2(CACNA1A):c.2105-2A>G
|
rs906086634
|
0.00001
|
NM_001127222.2(CACNA1A):c.4978C>T (p.Arg1660Cys)
|
rs779576853
|
0.00001
|
NM_001127222.2(CACNA1A):c.5033G>A (p.Arg1678His)
|
rs2055849544
|
0.00001
|
NM_001127222.2(CACNA1A):c.5422G>A (p.Val1808Ile)
|
rs1296629000
|
0.00001
|
NC_000019.10:g.(?_13259544)_(13259721_?)del
|
|
|
NC_000019.9:g.(13470614_13476130)_(13566027_13616745)dup
|
|
|
NC_000019.9:g.(?_13340886)_(13342684_?)del
|
|
|
NC_000019.9:g.(?_13445172)_(13446743_?)dup
|
|
|
NC_000019.9:g.(?_13474954)_(13476240_?)del
|
|
|
NM_001127221.2(CACNA1A):c.5532-2A>G
|
|
|
NM_001127221.2(CACNA1A):c.5559_5560del (p.Tyr1853_Ser1854delinsTer)
|
rs1568440440
|
|
NM_001127221.2(CACNA1A):c.5585C>T (p.Pro1862Leu)
|
rs2144616690
|
|
NM_001127222.2(CACNA1A):c.1198+1G>A
|
rs1057518513
|
|
NM_001127222.2(CACNA1A):c.1282del (p.Ser428fs)
|
|
|
NM_001127222.2(CACNA1A):c.1321C>T (p.Gln441Ter)
|
|
|
NM_001127222.2(CACNA1A):c.1345+1G>A
|
rs2145114772
|
|
NM_001127222.2(CACNA1A):c.1498A>G (p.Thr500Ala)
|
|
|
NM_001127222.2(CACNA1A):c.1555+2del
|
rs1600313212
|
|
NM_001127222.2(CACNA1A):c.1586_1587del (p.Phe529fs)
|
rs1555761603
|
|
NM_001127222.2(CACNA1A):c.1647del (p.Phe550fs)
|
rs2058057299
|
|
NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln)
|
rs121908217
|
|
NM_001127222.2(CACNA1A):c.1839C>G (p.Ile613Met)
|
rs374686479
|
|
NM_001127222.2(CACNA1A):c.184T>A (p.Tyr62Asn)
|
|
|
NM_001127222.2(CACNA1A):c.184T>C (p.Tyr62His)
|
|
|
NM_001127222.2(CACNA1A):c.1850T>C (p.Leu617Ser)
|
rs2145004155
|
|
NM_001127222.2(CACNA1A):c.185A>G (p.Tyr62Cys)
|
|
|
NM_001127222.2(CACNA1A):c.1862del (p.Phe621fs)
|
|
|
NM_001127222.2(CACNA1A):c.1870A>T (p.Ile624Phe)
|
rs2145004096
|
|
NM_001127222.2(CACNA1A):c.1883C>T (p.Ala628Val)
|
rs1600292507
|
|
NM_001127222.2(CACNA1A):c.1913+1G>A
|
|
|
NM_001127222.2(CACNA1A):c.2000A>C (p.Glu667Ala)
|
|
|
NM_001127222.2(CACNA1A):c.2006G>A (p.Trp669Ter)
|
rs1555757537
|
|
NM_001127222.2(CACNA1A):c.2017_2034del (p.Met673_Lys678del)
|
rs2144980726
|
|
NM_001127222.2(CACNA1A):c.2039_2040del (p.Gln680fs)
|
rs1064794262
|
|
NM_001127222.2(CACNA1A):c.2099G>A (p.Gly700Glu)
|
rs2144980363
|
|
NM_001127222.2(CACNA1A):c.2133C>G (p.Ile711Met)
|
rs764839814
|
|
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)
|
|
|
NM_001127222.2(CACNA1A):c.2137G>A (p.Val713Met)
|
rs2144979269
|
|
NM_001127222.2(CACNA1A):c.2140G>C (p.Asp714His)
|
|
|
NM_001127222.2(CACNA1A):c.2144A>C (p.Asn715Thr)
|
rs1555757432
|
|
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.2804_2814dup (p.Ser939fs)
|
rs1600272344
|
|
NM_001127222.2(CACNA1A):c.2812_2813del (p.Gly938fs)
|
|
|
NM_001127222.2(CACNA1A):c.301G>A (p.Glu101Lys)
|
rs886037944
|
|
NM_001127222.2(CACNA1A):c.3134C>G (p.Ser1045Ter)
|
rs2144889289
|
|
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.3692+1G>A
|
rs1315533129
|
|
NM_001127222.2(CACNA1A):c.3823-1G>C
|
|
|
NM_001127222.2(CACNA1A):c.3882+2T>C
|
rs2057168559
|
|
NM_001127222.2(CACNA1A):c.399+1G>A
|
rs2060983144
|
|
NM_001127222.2(CACNA1A):c.3990-2A>G
|
rs1057524483
|
|
NM_001127222.2(CACNA1A):c.4028C>A (p.Ser1343Tyr)
|
rs2056767982
|
|
NM_001127222.2(CACNA1A):c.4031T>C (p.Leu1344Pro)
|
rs2144773045
|
|
NM_001127222.2(CACNA1A):c.4034G>A (p.Arg1345Gln)
|
rs121908230
|
|
NM_001127222.2(CACNA1A):c.4042C>T (p.Arg1348Trp)
|
rs1064794858
|
|
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln)
|
rs1057520918
|
|
NM_001127222.2(CACNA1A):c.4052G>A (p.Arg1351Gln)
|
rs1555745467
|
|
NM_001127222.2(CACNA1A):c.4064C>A (p.Thr1355Asn)
|
rs2056767062
|
|
NM_001127222.2(CACNA1A):c.4067_4069del (p.Ile1356del)
|
|
|
NM_001127222.2(CACNA1A):c.4073G>A (p.Arg1358Gln)
|
|
|
NM_001127222.2(CACNA1A):c.4089+1G>A
|
|
|
NM_001127222.2(CACNA1A):c.4261del (p.Leu1421fs)
|
|
|
NM_001127222.2(CACNA1A):c.4270G>T (p.Glu1424Ter)
|
|
|
NM_001127222.2(CACNA1A):c.4363G>A (p.Val1455Met)
|
rs121908237
|
|
NM_001127222.2(CACNA1A):c.4549G>A (p.Gly1517Arg)
|
rs2144748225
|
|
NM_001127222.2(CACNA1A):c.4866+1G>T
|
rs2144725957
|
|
NM_001127222.2(CACNA1A):c.4897G>A (p.Asp1633Asn)
|
rs1555740805
|
|
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.4997G>C (p.Arg1666Pro)
|
rs1568447650
|
|
NM_001127222.2(CACNA1A):c.5014C>T (p.Arg1672Cys)
|
rs794727558
|
|
NM_001127222.2(CACNA1A):c.5015G>C (p.Arg1672Pro)
|
rs1057519429
|
|
NM_001127222.2(CACNA1A):c.5032C>A (p.Arg1678Ser)
|
|
|
NM_001127222.2(CACNA1A):c.5033dup (p.Ile1679fs)
|
|
|
NM_001127222.2(CACNA1A):c.5060C>T (p.Ser1687Phe)
|
rs1568447557
|
|
NM_001127222.2(CACNA1A):c.5068-1G>A
|
rs2144648058
|
|
NM_001127222.2(CACNA1A):c.5072T>A (p.Leu1691Gln)
|
rs2055835744
|
|
NM_001127222.2(CACNA1A):c.5104TTC[1] (p.Phe1703del)
|
rs2144647916
|
|
NM_001127222.2(CACNA1A):c.5120T>C (p.Ile1707Thr)
|
rs2144647872
|
|
NM_001127222.2(CACNA1A):c.5122A>C (p.Ile1708Leu)
|
rs2144647855
|
|
NM_001127222.2(CACNA1A):c.5133+2T>A
|
|
|
NM_001127222.2(CACNA1A):c.5134-2del
|
|
|
NM_001127222.2(CACNA1A):c.5250-2A>G
|
|
|
NM_001127222.2(CACNA1A):c.5273ACA[1] (p.Asn1759del)
|
rs2055675454
|
|
NM_001127222.2(CACNA1A):c.5393C>T (p.Ser1798Leu)
|
rs1064794261
|
|
NM_001127222.2(CACNA1A):c.540-1G>C
|
rs2144559526
|
|
NM_001127222.2(CACNA1A):c.5408A>C (p.Asn1803Thr)
|
|
|
NM_001127222.2(CACNA1A):c.5417T>C (p.Val1806Ala)
|
rs2144622461
|
|
NM_001127222.2(CACNA1A):c.5419G>A (p.Ala1807Thr)
|
rs1555736565
|
|
NM_001127222.2(CACNA1A):c.5425A>G (p.Ile1809Val)
|
|
|
NM_001127222.2(CACNA1A):c.5426T>C (p.Ile1809Thr)
|
rs2055612479
|
|
NM_001127222.2(CACNA1A):c.548C>T (p.Ala183Val)
|
|
|
NM_001127222.2(CACNA1A):c.5531G>A (p.Gly1844Asp)
|
|
|
NM_001127222.2(CACNA1A):c.5839+1G>C
|
rs951196653
|
|
NM_001127222.2(CACNA1A):c.5840-2A>G
|
rs2144536202
|
|
NM_001127222.2(CACNA1A):c.5840-2A>T
|
rs2144536202
|
|
NM_001127222.2(CACNA1A):c.593G>A (p.Arg198Gln)
|
rs797045424
|
|
NM_001127222.2(CACNA1A):c.5940+1G>A
|
rs2144535495
|
|
NM_001127222.2(CACNA1A):c.6189+1G>A
|
rs2144524396
|
|
NM_001127222.2(CACNA1A):c.6190-2A>C
|
rs1064796709
|
|
NM_001127222.2(CACNA1A):c.631+2T>C
|
|
|
NM_001127222.2(CACNA1A):c.6397C>T (p.Arg2133Ter)
|
rs1555730878
|
|
NM_001127222.2(CACNA1A):c.652T>C (p.Ser218Pro)
|
rs2144523407
|
|
NM_001127222.2(CACNA1A):c.653C>T (p.Ser218Leu)
|
rs121908225
|
|
NM_001127222.2(CACNA1A):c.674C>G (p.Pro225Arg)
|
rs2059190701
|
|
NM_001127222.2(CACNA1A):c.676_784+1178del
|
|
|
NM_001127222.2(CACNA1A):c.688G>A (p.Gly230Ser)
|
rs1555774859
|
|
NM_001127222.2(CACNA1A):c.688G>C (p.Gly230Arg)
|
rs1555774859
|
|
NM_001127222.2(CACNA1A):c.757C>T (p.His253Tyr)
|
rs121908228
|
|
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.905A>G (p.Asp302Gly)
|
rs2059067761
|
|
NM_001127222.2(CACNA1A):c.949A>C (p.Met317Leu)
|
|
|