NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys)
|
rs16024
|
0.00390
|
NM_001127222.2(CACNA1A):c.1623G>A (p.Gly541=)
|
rs375628894
|
0.00131
|
NM_001127222.2(CACNA1A):c.2687C>G (p.Pro896Arg)
|
rs121908242
|
0.00091
|
NM_001127222.2(CACNA1A):c.3355G>A (p.Ala1119Thr)
|
rs199745070
|
0.00074
|
NM_001127222.2(CACNA1A):c.5650G>A (p.Val1884Ile)
|
rs201836062
|
0.00070
|
NM_001127222.2(CACNA1A):c.3309C>T (p.Pro1103=)
|
rs374749004
|
0.00057
|
NM_001127222.2(CACNA1A):c.6656A>C (p.His2219Pro)
|
rs772789381
|
0.00055
|
NM_001127222.2(CACNA1A):c.978+9T>C
|
rs111366222
|
0.00041
|
NM_001127222.2(CACNA1A):c.5133+10G>A
|
rs369033909
|
0.00029
|
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_001127222.2(CACNA1A):c.7189G>A (p.Val2397Met)
|
rs768129470
|
0.00020
|
NM_001127222.2(CACNA1A):c.5652C>T (p.Val1884=)
|
rs17846921
|
0.00019
|
NM_001127222.2(CACNA1A):c.6494G>A (p.Arg2165His)
|
rs727503832
|
0.00017
|
NM_001127222.2(CACNA1A):c.7050C>T (p.Ala2350=)
|
rs932173199
|
0.00017
|
NM_001127222.2(CACNA1A):c.3016C>T (p.Arg1006Trp)
|
rs757026025
|
0.00016
|
NM_001127222.2(CACNA1A):c.5170G>A (p.Asp1724Asn)
|
rs371595464
|
0.00016
|
NM_001127222.2(CACNA1A):c.5987C>T (p.Thr1996Met)
|
rs778274864
|
0.00015
|
NM_001127222.2(CACNA1A):c.5259C>T (p.Thr1753=)
|
rs376684786
|
0.00014
|
NM_001127222.2(CACNA1A):c.3043G>A (p.Gly1015Arg)
|
rs190551509
|
0.00013
|
NM_001127222.2(CACNA1A):c.539+9C>T
|
rs369146237
|
0.00013
|
NM_001127222.2(CACNA1A):c.3618A>G (p.Glu1206=)
|
rs201236364
|
0.00012
|
NM_001127222.2(CACNA1A):c.1782-6C>T
|
rs201350764
|
0.00011
|
NM_001127222.2(CACNA1A):c.924G>A (p.Val308=)
|
rs754935637
|
0.00011
|
NM_001127222.2(CACNA1A):c.5155G>A (p.Asp1719Asn)
|
rs368257155
|
0.00010
|
NM_001127222.2(CACNA1A):c.1225A>C (p.Thr409Pro)
|
rs187259531
|
0.00009
|
NM_001127222.2(CACNA1A):c.2104+6C>T
|
rs372970603
|
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.6044G>A (p.Gly2015Glu)
|
rs772988279
|
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.3368G>A (p.Arg1123Gln)
|
rs769497214
|
0.00008
|
NM_001127222.2(CACNA1A):c.3634G>T (p.Asp1212Tyr)
|
rs201269793
|
0.00008
|
NM_001127222.2(CACNA1A):c.6527G>T (p.Gly2176Val)
|
rs763045560
|
0.00008
|
NM_001127222.2(CACNA1A):c.2257G>A (p.Ala753Thr)
|
rs17846944
|
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.3063C>A (p.Asp1021Glu)
|
rs1038705410
|
0.00007
|
NM_001127222.2(CACNA1A):c.5868C>T (p.Tyr1956=)
|
rs371972266
|
0.00007
|
NM_001127221.2(CACNA1A):c.5555T>C (p.Met1852Thr)
|
rs368791169
|
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.2749G>A (p.Glu917Lys)
|
rs368081042
|
0.00006
|
NM_001127222.2(CACNA1A):c.2812G>C (p.Gly938Arg)
|
rs771423362
|
0.00006
|
NM_001127222.2(CACNA1A):c.3053G>C (p.Arg1018Pro)
|
rs762288499
|
0.00006
|
NM_001127222.2(CACNA1A):c.3649A>G (p.Met1217Val)
|
rs372017604
|
0.00006
|
NM_001127222.2(CACNA1A):c.5740G>A (p.Asp1914Asn)
|
rs371957992
|
0.00006
|
NM_001127222.2(CACNA1A):c.6001C>T (p.Pro2001Ser)
|
rs751947412
|
0.00006
|
NM_001127222.2(CACNA1A):c.6077A>G (p.Glu2026Gly)
|
rs771768635
|
0.00006
|
NM_001127222.2(CACNA1A):c.6190-3C>A
|
rs368480650
|
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.6922G>A (p.Gly2308Ser)
|
rs758924907
|
0.00006
|
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_001127221.2(CACNA1A):c.5578T>C (p.Ser1860Pro)
|
rs374688464
|
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.1306G>A (p.Glu436Lys)
|
rs759782636
|
0.00004
|
NM_001127222.2(CACNA1A):c.1361G>A (p.Arg454Gln)
|
rs561858384
|
0.00004
|
NM_001127222.2(CACNA1A):c.2982_2987dup (p.Gly995_Pro996dup)
|
rs995883431
|
0.00004
|
NM_001127222.2(CACNA1A):c.3106G>A (p.Gly1036Arg)
|
rs762343454
|
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.3622G>A (p.Asp1208Asn)
|
rs750231498
|
0.00004
|
NM_001127222.2(CACNA1A):c.4371G>A (p.Thr1457=)
|
rs368100270
|
0.00004
|
NM_001127222.2(CACNA1A):c.4879G>A (p.Asp1627Asn)
|
rs573209959
|
0.00004
|
NM_001127222.2(CACNA1A):c.5095G>A (p.Ala1699Thr)
|
rs371273055
|
0.00004
|
NM_001127222.2(CACNA1A):c.5451C>T (p.Thr1817=)
|
rs188863534
|
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.6235G>A (p.Glu2079Lys)
|
rs752513542
|
0.00004
|
NM_001127222.2(CACNA1A):c.6601C>T (p.Arg2201Trp)
|
rs1032588483
|
0.00004
|
NM_001127222.2(CACNA1A):c.7144G>T (p.Ala2382Ser)
|
rs763992341
|
0.00004
|
NM_001127222.2(CACNA1A):c.7306G>A (p.Ala2436Thr)
|
rs754573556
|
0.00004
|
NM_001127222.2(CACNA1A):c.7441G>A (p.Gly2481Arg)
|
rs765523382
|
0.00004
|
NM_001127222.2(CACNA1A):c.1369A>G (p.Ile457Val)
|
rs774203605
|
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.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.3017G>C (p.Arg1006Pro)
|
rs1268938831
|
0.00003
|
NM_001127222.2(CACNA1A):c.3119C>T (p.Ser1040Leu)
|
rs776628272
|
0.00003
|
NM_001127222.2(CACNA1A):c.3365G>A (p.Arg1122His)
|
rs201647627
|
0.00003
|
NM_001127222.2(CACNA1A):c.3533T>A (p.Leu1178His)
|
rs761259850
|
0.00003
|
NM_001127222.2(CACNA1A):c.35A>G (p.Tyr12Cys)
|
rs994265107
|
0.00003
|
NM_001127222.2(CACNA1A):c.3784G>A (p.Ala1262Thr)
|
rs776503550
|
0.00003
|
NM_001127222.2(CACNA1A):c.4609G>A (p.Ala1537Thr)
|
rs773209223
|
0.00003
|
NM_001127222.2(CACNA1A):c.5810C>T (p.Thr1937Met)
|
rs771104002
|
0.00003
|
NM_001127222.2(CACNA1A):c.5940+4C>T
|
rs749339070
|
0.00003
|
NM_001127222.2(CACNA1A):c.5940+5G>A
|
rs780060495
|
0.00003
|
NM_001127222.2(CACNA1A):c.6083C>G (p.Pro2028Arg)
|
rs370345937
|
0.00003
|
NM_001127222.2(CACNA1A):c.6125C>T (p.Thr2042Met)
|
rs563345694
|
0.00003
|
NM_001127222.2(CACNA1A):c.6193G>A (p.Val2065Met)
|
rs776203885
|
0.00003
|
NM_001127222.2(CACNA1A):c.6317G>A (p.Arg2106Gln)
|
rs373229577
|
0.00003
|
NM_001127222.2(CACNA1A):c.6398G>A (p.Arg2133Gln)
|
rs779044548
|
0.00003
|
NM_001127222.2(CACNA1A):c.6448C>T (p.Arg2150Trp)
|
rs756780624
|
0.00003
|
NM_001127222.2(CACNA1A):c.6614G>A (p.Arg2205Gln)
|
rs756685971
|
0.00003
|
NM_001127222.2(CACNA1A):c.6644A>C (p.His2215Pro)
|
rs1233829101
|
0.00003
|
NM_001127222.2(CACNA1A):c.699A>G (p.Leu233=)
|
rs749587119
|
0.00003
|
NM_001127222.2(CACNA1A):c.7160G>A (p.Gly2387Glu)
|
rs1175823781
|
0.00003
|
NM_001127221.2(CACNA1A):c.5533G>A (p.Gly1845Ser)
|
rs141565870
|
0.00002
|
NM_001127222.2(CACNA1A):c.1142G>A (p.Arg381Gln)
|
rs772354342
|
0.00002
|
NM_001127222.2(CACNA1A):c.1256-9T>C
|
rs758786727
|
0.00002
|
NM_001127222.2(CACNA1A):c.1438C>T (p.Arg480Cys)
|
rs1189054127
|
0.00002
|
NM_001127222.2(CACNA1A):c.2434C>T (p.Arg812Trp)
|
rs369084322
|
0.00002
|
NM_001127222.2(CACNA1A):c.2729T>G (p.Leu910Arg)
|
rs953766694
|
0.00002
|
NM_001127222.2(CACNA1A):c.2754C>T (p.Gly918=)
|
rs371757002
|
0.00002
|
NM_001127222.2(CACNA1A):c.2963G>A (p.Gly988Asp)
|
rs1271411894
|
0.00002
|
NM_001127222.2(CACNA1A):c.29C>T (p.Ala10Val)
|
rs952757731
|
0.00002
|
NM_001127222.2(CACNA1A):c.3078T>A (p.His1026Gln)
|
rs1202322408
|
0.00002
|
NM_001127222.2(CACNA1A):c.3142C>T (p.Arg1048Trp)
|
rs753402026
|
0.00002
|
NM_001127222.2(CACNA1A):c.3421G>A (p.Glu1141Lys)
|
rs780535727
|
0.00002
|
NM_001127222.2(CACNA1A):c.3436G>A (p.Val1146Ile)
|
rs376365775
|
0.00002
|
NM_001127222.2(CACNA1A):c.4089+3G>A
|
rs781595676
|
0.00002
|
NM_001127222.2(CACNA1A):c.4662C>G (p.Phe1554Leu)
|
rs182161386
|
0.00002
|
NM_001127222.2(CACNA1A):c.5157C>T (p.Asp1719=)
|
rs758409135
|
0.00002
|
NM_001127222.2(CACNA1A):c.5521G>A (p.Ala1841Thr)
|
rs753229469
|
0.00002
|
NM_001127222.2(CACNA1A):c.5844G>A (p.Thr1948=)
|
rs368203745
|
0.00002
|
NM_001127222.2(CACNA1A):c.5986A>G (p.Thr1996Ala)
|
rs141963371
|
0.00002
|
NM_001127222.2(CACNA1A):c.6101G>A (p.Arg2034His)
|
rs369555957
|
0.00002
|
NM_001127222.2(CACNA1A):c.6140C>T (p.Pro2047Leu)
|
rs539347883
|
0.00002
|
NM_001127222.2(CACNA1A):c.6220G>A (p.Gly2074Ser)
|
rs376910068
|
0.00002
|
NM_001127222.2(CACNA1A):c.632G>A (p.Ser211Asn)
|
rs1085307866
|
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.6460C>T (p.Arg2154Trp)
|
rs1374160355
|
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.6506G>A (p.Arg2169His)
|
rs1417890059
|
0.00002
|
NM_001127222.2(CACNA1A):c.6550A>G (p.Thr2184Ala)
|
rs1028538547
|
0.00002
|
NM_001127222.2(CACNA1A):c.6610G>A (p.Asp2204Asn)
|
rs747673128
|
0.00002
|
NM_001127222.2(CACNA1A):c.6646C>T (p.His2216Tyr)
|
rs760470308
|
0.00002
|
NM_001127222.2(CACNA1A):c.6647A>C (p.His2216Pro)
|
rs2054687187
|
0.00002
|
NM_001127222.2(CACNA1A):c.6653A>C (p.His2218Pro)
|
rs1353109044
|
0.00002
|
NM_001127222.2(CACNA1A):c.6662C>T (p.Pro2221Leu)
|
rs778551911
|
0.00002
|
NM_001127221.2(CACNA1A):c.5587C>G (p.Leu1863Val)
|
rs1186831509
|
0.00001
|
NM_001127222.2(CACNA1A):c.1141C>T (p.Arg381Trp)
|
rs773593740
|
0.00001
|
NM_001127222.2(CACNA1A):c.1169A>G (p.Asn390Ser)
|
rs1064795477
|
0.00001
|
NM_001127222.2(CACNA1A):c.1171G>A (p.Gly391Arg)
|
rs749309558
|
0.00001
|
NM_001127222.2(CACNA1A):c.1213G>A (p.Ala405Thr)
|
rs121908245
|
0.00001
|
NM_001127222.2(CACNA1A):c.1261C>T (p.Arg421Trp)
|
rs1208991974
|
0.00001
|
NM_001127222.2(CACNA1A):c.1327G>A (p.Ala443Thr)
|
rs866479368
|
0.00001
|
NM_001127222.2(CACNA1A):c.1329T>C (p.Ala443=)
|
rs2058444317
|
0.00001
|
NM_001127222.2(CACNA1A):c.1389G>A (p.Glu463=)
|
rs886043657
|
0.00001
|
NM_001127222.2(CACNA1A):c.1393T>G (p.Ser465Ala)
|
rs1195950626
|
0.00001
|
NM_001127222.2(CACNA1A):c.1427G>A (p.Arg476His)
|
rs755107633
|
0.00001
|
NM_001127222.2(CACNA1A):c.1439G>A (p.Arg480His)
|
rs761827501
|
0.00001
|
NM_001127222.2(CACNA1A):c.1546G>A (p.Asp516Asn)
|
rs185034915
|
0.00001
|
NM_001127222.2(CACNA1A):c.1551C>G (p.Phe517Leu)
|
rs2058143598
|
0.00001
|
NM_001127222.2(CACNA1A):c.1559A>G (p.Tyr520Cys)
|
rs886039322
|
0.00001
|
NM_001127222.2(CACNA1A):c.162G>A (p.Gln54=)
|
rs762262807
|
0.00001
|
NM_001127222.2(CACNA1A):c.1643C>G (p.Ser548Cys)
|
rs2058057381
|
0.00001
|
NM_001127222.2(CACNA1A):c.1782-5G>A
|
rs1085307739
|
0.00001
|
NM_001127222.2(CACNA1A):c.1782G>A (p.Lys594=)
|
rs756972061
|
0.00001
|
NM_001127222.2(CACNA1A):c.1810G>A (p.Val604Ile)
|
rs756562814
|
0.00001
|
NM_001127222.2(CACNA1A):c.2062G>T (p.Val688Leu)
|
rs762530372
|
0.00001
|
NM_001127222.2(CACNA1A):c.2155G>A (p.Ala719Thr)
|
rs1201483107
|
0.00001
|
NM_001127222.2(CACNA1A):c.2198C>T (p.Ala733Val)
|
rs1335209785
|
0.00001
|
NM_001127222.2(CACNA1A):c.2258C>T (p.Ala753Val)
|
rs200355966
|
0.00001
|
NM_001127222.2(CACNA1A):c.2281A>G (p.Lys761Glu)
|
rs1196111017
|
0.00001
|
NM_001127222.2(CACNA1A):c.2391G>A (p.Met797Ile)
|
rs370746809
|
0.00001
|
NM_001127222.2(CACNA1A):c.2404C>A (p.Arg802Ser)
|
rs760816963
|
0.00001
|
NM_001127222.2(CACNA1A):c.2435G>A (p.Arg812Gln)
|
rs953797733
|
0.00001
|
NM_001127222.2(CACNA1A):c.2490C>G (p.Asn830Lys)
|
rs1248783281
|
0.00001
|
NM_001127222.2(CACNA1A):c.2521G>T (p.Ala841Ser)
|
rs1057522204
|
0.00001
|
NM_001127222.2(CACNA1A):c.2606G>A (p.Arg869Gln)
|
rs1057518589
|
0.00001
|
NM_001127222.2(CACNA1A):c.2620T>G (p.Ser874Ala)
|
rs751675055
|
0.00001
|
NM_001127222.2(CACNA1A):c.2672T>G (p.Leu891Arg)
|
rs1171365113
|
0.00001
|
NM_001127222.2(CACNA1A):c.26C>T (p.Pro9Leu)
|
rs1487101039
|
0.00001
|
NM_001127222.2(CACNA1A):c.2707C>T (p.His903Tyr)
|
rs765300713
|
0.00001
|
NM_001127222.2(CACNA1A):c.270C>T (p.Tyr90=)
|
rs371957971
|
0.00001
|
NM_001127222.2(CACNA1A):c.2774C>T (p.Ala925Val)
|
rs765345767
|
0.00001
|
NM_001127222.2(CACNA1A):c.2809G>C (p.Gly937Arg)
|
rs746428515
|
0.00001
|
NM_001127222.2(CACNA1A):c.2827C>T (p.Arg943Cys)
|
rs754979047
|
0.00001
|
NM_001127222.2(CACNA1A):c.2833G>A (p.Gly945Arg)
|
rs527593196
|
0.00001
|
NM_001127222.2(CACNA1A):c.2852C>T (p.Ala951Val)
|
rs1442995931
|
0.00001
|
NM_001127222.2(CACNA1A):c.2872C>A (p.His958Asn)
|
rs923472334
|
0.00001
|
NM_001127222.2(CACNA1A):c.2882A>C (p.His961Pro)
|
rs1316264115
|
0.00001
|
NM_001127222.2(CACNA1A):c.2884C>T (p.Arg962Cys)
|
rs532842904
|
0.00001
|
NM_001127222.2(CACNA1A):c.2905C>G (p.Pro969Ala)
|
rs773766180
|
0.00001
|
NM_001127222.2(CACNA1A):c.2932C>T (p.Arg978Trp)
|
rs1361244265
|
0.00001
|
NM_001127222.2(CACNA1A):c.2938C>T (p.Arg980Cys)
|
rs778978325
|
0.00001
|
NM_001127222.2(CACNA1A):c.294-4A>G
|
rs1400044284
|
0.00001
|
NM_001127222.2(CACNA1A):c.3052C>T (p.Arg1018Trp)
|
rs772611976
|
0.00001
|
NM_001127222.2(CACNA1A):c.3071G>A (p.Arg1024Gln)
|
rs1458500776
|
0.00001
|
NM_001127222.2(CACNA1A):c.3167G>A (p.Arg1056His)
|
rs200850308
|
0.00001
|
NM_001127222.2(CACNA1A):c.3170A>C (p.Gln1057Pro)
|
rs1273138619
|
0.00001
|
NM_001127222.2(CACNA1A):c.3233C>T (p.Ser1078Leu)
|
rs748935741
|
0.00001
|
NM_001127222.2(CACNA1A):c.3236C>A (p.Ala1079Asp)
|
rs1064797232
|
0.00001
|
NM_001127222.2(CACNA1A):c.3238G>A (p.Ala1080Thr)
|
rs577581172
|
0.00001
|
NM_001127222.2(CACNA1A):c.330G>A (p.Ala110=)
|
rs375486960
|
0.00001
|
NM_001127222.2(CACNA1A):c.3331G>T (p.Ala1111Ser)
|
rs1215692574
|
0.00001
|
NM_001127222.2(CACNA1A):c.3364C>T (p.Arg1122Cys)
|
rs774407963
|
0.00001
|
NM_001127222.2(CACNA1A):c.3371C>T (p.Thr1124Met)
|
rs374720207
|
0.00001
|
NM_001127222.2(CACNA1A):c.3377A>G (p.Asn1126Ser)
|
rs755440575
|
0.00001
|
NM_001127222.2(CACNA1A):c.337A>G (p.Ile113Val)
|
rs746955115
|
0.00001
|
NM_001127222.2(CACNA1A):c.3429C>G (p.Ser1143Arg)
|
rs746195332
|
0.00001
|
NM_001127222.2(CACNA1A):c.345C>G (p.Leu115=)
|
rs747917423
|
0.00001
|
NM_001127222.2(CACNA1A):c.3479C>T (p.Ala1160Val)
|
rs766027931
|
0.00001
|
NM_001127222.2(CACNA1A):c.3497C>T (p.Thr1166Ile)
|
rs746222908
|
0.00001
|
NM_001127222.2(CACNA1A):c.3520T>G (p.Cys1174Gly)
|
rs996509493
|
0.00001
|
NM_001127222.2(CACNA1A):c.3656C>T (p.Pro1219Leu)
|
rs573365997
|
0.00001
|
NM_001127222.2(CACNA1A):c.367G>A (p.Asp123Asn)
|
rs753467037
|
0.00001
|
NM_001127222.2(CACNA1A):c.3683C>T (p.Thr1228Met)
|
rs1057518532
|
0.00001
|
NM_001127222.2(CACNA1A):c.3700C>T (p.Arg1234Cys)
|
rs781738239
|
0.00001
|
NM_001127222.2(CACNA1A):c.3715A>G (p.Ile1239Val)
|
rs375903481
|
0.00001
|
NM_001127222.2(CACNA1A):c.3803C>T (p.Pro1268Leu)
|
rs1057522815
|
0.00001
|
NM_001127222.2(CACNA1A):c.3806A>G (p.Asn1269Ser)
|
rs997272721
|
0.00001
|
NM_001127222.2(CACNA1A):c.4047G>T (p.Val1349=)
|
rs1265632174
|
0.00001
|
NM_001127222.2(CACNA1A):c.4474G>A (p.Val1492Ile)
|
rs121908234
|
0.00001
|
NM_001127222.2(CACNA1A):c.4516G>T (p.Val1506Leu)
|
rs1322080885
|
0.00001
|
NM_001127222.2(CACNA1A):c.458T>C (p.Ile153Thr)
|
rs369134549
|
0.00001
|
NM_001127222.2(CACNA1A):c.4646A>G (p.Gln1549Arg)
|
rs759263620
|
0.00001
|
NM_001127222.2(CACNA1A):c.4693C>T (p.Pro1565Ser)
|
rs1353824164
|
0.00001
|
NM_001127222.2(CACNA1A):c.4786G>A (p.Ala1596Thr)
|
rs769043258
|
0.00001
|
NM_001127222.2(CACNA1A):c.4807G>A (p.Val1603Ile)
|
rs943715197
|
0.00001
|
NM_001127222.2(CACNA1A):c.4877G>A (p.Arg1626His)
|
rs777769751
|
0.00001
|
NM_001127222.2(CACNA1A):c.5015G>A (p.Arg1672His)
|
rs1057519429
|
0.00001
|
NM_001127222.2(CACNA1A):c.5032C>T (p.Arg1678Cys)
|
rs121908243
|
0.00001
|
NM_001127222.2(CACNA1A):c.5200G>A (p.Glu1734Lys)
|
rs1064795744
|
0.00001
|
NM_001127222.2(CACNA1A):c.5316G>A (p.Lys1772=)
|
rs886043622
|
0.00001
|
NM_001127222.2(CACNA1A):c.5336G>A (p.Arg1779Gln)
|
rs267605294
|
0.00001
|
NM_001127222.2(CACNA1A):c.536C>T (p.Thr179Met)
|
rs773461333
|
0.00001
|
NM_001127222.2(CACNA1A):c.5635C>T (p.Arg1879Trp)
|
rs746460335
|
0.00001
|
NM_001127222.2(CACNA1A):c.5768G>A (p.Arg1923Gln)
|
rs771636070
|
0.00001
|
NM_001127222.2(CACNA1A):c.578C>T (p.Thr193Met)
|
rs1365721398
|
0.00001
|
NM_001127222.2(CACNA1A):c.5839+10G>A
|
rs371733571
|
0.00001
|
NM_001127222.2(CACNA1A):c.5854G>A (p.Val1952Met)
|
rs749251058
|
0.00001
|
NM_001127222.2(CACNA1A):c.6005G>C (p.Gly2002Ala)
|
rs1402384624
|
0.00001
|
NM_001127222.2(CACNA1A):c.6015C>T (p.Ala2005=)
|
rs369675855
|
0.00001
|
NM_001127222.2(CACNA1A):c.6017T>G (p.Leu2006Arg)
|
rs759624463
|
0.00001
|
NM_001127222.2(CACNA1A):c.6051-9C>G
|
rs1268738297
|
0.00001
|
NM_001127222.2(CACNA1A):c.6055G>T (p.Ala2019Ser)
|
rs1393616835
|
0.00001
|
NM_001127222.2(CACNA1A):c.6066C>T (p.Ser2022=)
|
rs886043571
|
0.00001
|
NM_001127222.2(CACNA1A):c.6141G>A (p.Pro2047=)
|
rs760682283
|
0.00001
|
NM_001127222.2(CACNA1A):c.6217G>A (p.Asp2073Asn)
|
rs1057524336
|
0.00001
|
NM_001127222.2(CACNA1A):c.6231C>A (p.Asp2077Glu)
|
rs751515136
|
0.00001
|
NM_001127222.2(CACNA1A):c.6281C>T (p.Pro2094Leu)
|
rs769128653
|
0.00001
|
NM_001127222.2(CACNA1A):c.6316C>T (p.Arg2106Trp)
|
rs771030765
|
0.00001
|
NM_001127222.2(CACNA1A):c.6326G>A (p.Gly2109Glu)
|
rs868808043
|
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.6444C>A (p.Asn2148Lys)
|
rs780779363
|
0.00001
|
NM_001127222.2(CACNA1A):c.6449G>A (p.Arg2150Gln)
|
rs751044309
|
0.00001
|
NM_001127222.2(CACNA1A):c.6458A>G (p.Gln2153Arg)
|
rs1242460645
|
0.00001
|
NM_001127222.2(CACNA1A):c.6469G>A (p.Asp2157Asn)
|
rs1042634748
|
0.00001
|
NM_001127222.2(CACNA1A):c.6532G>A (p.Gly2178Arg)
|
rs953871050
|
0.00001
|
NM_001127222.2(CACNA1A):c.6549G>A (p.Met2183Ile)
|
rs1335828021
|
0.00001
|
NM_001127222.2(CACNA1A):c.6562G>A (p.Gly2188Arg)
|
rs965819293
|
0.00001
|
NM_001127222.2(CACNA1A):c.6575C>T (p.Ser2192Leu)
|
rs1325697290
|
0.00001
|
NM_001127222.2(CACNA1A):c.6595C>T (p.Arg2199Trp)
|
rs1477386827
|
0.00001
|
NM_001127222.2(CACNA1A):c.6599G>A (p.Gly2200Asp)
|
rs1163864338
|
0.00001
|
NM_001127222.2(CACNA1A):c.6608A>G (p.Lys2203Arg)
|
rs1057521770
|
0.00001
|
NM_001127222.2(CACNA1A):c.6629A>G (p.His2210Arg)
|
rs1002423867
|
0.00001
|
NM_001127222.2(CACNA1A):c.6679C>T (p.Arg2227Cys)
|
rs757715357
|
0.00001
|
NM_001127222.2(CACNA1A):c.6701del (p.Asp2234fs)
|
rs1204175797
|
0.00001
|
NM_001127222.2(CACNA1A):c.6791C>T (p.Ser2264Phe)
|
rs1267795318
|
0.00001
|
NM_001127222.2(CACNA1A):c.7197G>C (p.Glu2399Asp)
|
rs973900517
|
0.00001
|
NM_001127222.2(CACNA1A):c.7368G>A (p.Arg2456=)
|
rs987406696
|
0.00001
|
NM_001127222.2(CACNA1A):c.7409G>A (p.Arg2470Gln)
|
rs754738036
|
0.00001
|
NM_001127222.2(CACNA1A):c.7512T>C (p.Asp2504=)
|
rs1296592145
|
0.00001
|
NM_001127222.2(CACNA1A):c.761C>A (p.Thr254Asn)
|
rs1599292361
|
0.00001
|
NM_001127222.2(CACNA1A):c.832G>T (p.Ala278Ser)
|
rs1013100046
|
0.00001
|
NM_001127222.2(CACNA1A):c.839C>T (p.Thr280Ile)
|
rs1195270312
|
0.00001
|
GRCh37/hg19 19p13.2(chr19:13512340-13548135)x1
|
|
|
NM_000068.4(CACNA1A):c.4970_4987del
|
|
|
NM_001127221.1(CACNA1A):c.6309_6311delGAG
|
rs750511224
|
|
NM_001127221.2(CACNA1A):c.5537G>A (p.Arg1846Gln)
|
rs770936656
|
|
NM_001127221.2(CACNA1A):c.5537G>T (p.Arg1846Leu)
|
rs770936656
|
|
NM_001127221.2(CACNA1A):c.5543A>G (p.His1848Arg)
|
rs2144616863
|
|
NM_001127221.2(CACNA1A):c.5567T>C (p.Leu1856Ser)
|
rs2055562308
|
|
NM_001127221.2(CACNA1A):c.5575A>G (p.Ile1859Val)
|
rs1432354078
|
|
NM_001127221.2(CACNA1A):c.5590G>A (p.Gly1864Ser)
|
rs1001063428
|
|
NM_001127221.2(CACNA1A):c.5615G>C (p.Arg1872Thr)
|
|
|
NM_001127221.2(CACNA1A):c.6659_6660delinsGC (p.His2220Arg)
|
rs1085307607
|
|
NM_001127222.2(CACNA1A):c.106A>G (p.Ser36Gly)
|
|
|
NM_001127222.2(CACNA1A):c.1096G>A (p.Glu366Lys)
|
|
|
NM_001127222.2(CACNA1A):c.109C>G (p.Arg37Gly)
|
rs780987148
|
|
NM_001127222.2(CACNA1A):c.1105C>T (p.Arg369Trp)
|
rs1057524457
|
|
NM_001127222.2(CACNA1A):c.1106G>A (p.Arg369Gln)
|
|
|
NM_001127222.2(CACNA1A):c.1108G>T (p.Val370Leu)
|
|
|
NM_001127222.2(CACNA1A):c.1136T>G (p.Leu379Arg)
|
|
|
NM_001127222.2(CACNA1A):c.1168A>G (p.Asn390Asp)
|
|
|
NM_001127222.2(CACNA1A):c.116G>A (p.Gly39Asp)
|
|
|
NM_001127222.2(CACNA1A):c.1170T>A (p.Asn390Lys)
|
rs768768744
|
|
NM_001127222.2(CACNA1A):c.1198+8C>T
|
|
|
NM_001127222.2(CACNA1A):c.11_34del (p.Phe4_Arg11del)
|
|
|
NM_001127222.2(CACNA1A):c.1205T>C (p.Val402Ala)
|
|
|
NM_001127222.2(CACNA1A):c.1220A>C (p.Asp407Ala)
|
|
|
NM_001127222.2(CACNA1A):c.122A>T (p.Gln41Leu)
|
|
|
NM_001127222.2(CACNA1A):c.1231G>C (p.Gly411Arg)
|
|
|
NM_001127222.2(CACNA1A):c.1231G>T (p.Gly411Trp)
|
rs1448345243
|
|
NM_001127222.2(CACNA1A):c.1234G>C (p.Glu412Gln)
|
|
|
NM_001127222.2(CACNA1A):c.124C>T (p.Pro42Ser)
|
rs2145192584
|
|
NM_001127222.2(CACNA1A):c.1255+2dup
|
rs1555767190
|
|
NM_001127222.2(CACNA1A):c.1255+3A>G
|
|
|
NM_001127222.2(CACNA1A):c.1255+5C>T
|
|
|
NM_001127222.2(CACNA1A):c.1256C>T (p.Ala419Val)
|
|
|
NM_001127222.2(CACNA1A):c.1320T>C (p.Asp440=)
|
rs1555766555
|
|
NM_001127222.2(CACNA1A):c.1343T>C (p.Val448Ala)
|
|
|
NM_001127222.2(CACNA1A):c.1345+4A>G
|
|
|
NM_001127222.2(CACNA1A):c.1346-6T>C
|
rs1352231097
|
|
NM_001127222.2(CACNA1A):c.1354T>G (p.Phe452Val)
|
|
|
NM_001127222.2(CACNA1A):c.1373A>G (p.Lys458Arg)
|
rs1239292406
|
|
NM_001127222.2(CACNA1A):c.1382A>C (p.Lys461Thr)
|
|
|
NM_001127222.2(CACNA1A):c.1396A>G (p.Thr466Ala)
|
rs2145051461
|
|
NM_001127222.2(CACNA1A):c.1402T>C (p.Phe468Leu)
|
|
|
NM_001127222.2(CACNA1A):c.1418G>A (p.Arg473Lys)
|
rs1401413921
|
|
NM_001127222.2(CACNA1A):c.1444A>G (p.Met482Val)
|
rs1555762900
|
|
NM_001127222.2(CACNA1A):c.1465T>C (p.Tyr489His)
|
rs1568528172
|
|
NM_001127222.2(CACNA1A):c.146A>C (p.Lys49Thr)
|
|
|
NM_001127222.2(CACNA1A):c.1504T>C (p.Cys502Arg)
|
|
|
NM_001127222.2(CACNA1A):c.1507G>C (p.Val503Leu)
|
|
|
NM_001127222.2(CACNA1A):c.1520A>G (p.His507Arg)
|
|
|
NM_001127222.2(CACNA1A):c.1534G>C (p.Glu512Gln)
|
rs375210532
|
|
NM_001127222.2(CACNA1A):c.1541T>C (p.Leu514Pro)
|
|
|
NM_001127222.2(CACNA1A):c.1555+10A>C
|
rs794727022
|
|
NM_001127222.2(CACNA1A):c.1555+3_1555+6del
|
rs2058143459
|
|
NM_001127222.2(CACNA1A):c.1555+5G>A
|
|
|
NM_001127222.2(CACNA1A):c.1556A>C (p.Tyr519Ser)
|
|
|
NM_001127222.2(CACNA1A):c.155T>C (p.Met52Thr)
|
|
|
NM_001127222.2(CACNA1A):c.156G>A (p.Met52Ile)
|
|
|
NM_001127222.2(CACNA1A):c.1582C>T (p.Leu528Phe)
|
rs2145030759
|
|
NM_001127222.2(CACNA1A):c.159G>A (p.Ala53=)
|
|
|
NM_001127222.2(CACNA1A):c.1609A>C (p.Met537Leu)
|
rs2145030626
|
|
NM_001127222.2(CACNA1A):c.1615G>A (p.Gly539Arg)
|
rs2145030587
|
|
NM_001127222.2(CACNA1A):c.1619T>G (p.Leu540Arg)
|
|
|
NM_001127222.2(CACNA1A):c.1624A>T (p.Thr542Ser)
|
|
|
NM_001127222.2(CACNA1A):c.1625C>T (p.Thr542Met)
|
|
|
NM_001127222.2(CACNA1A):c.1640A>G (p.His547Arg)
|
|
|
NM_001127222.2(CACNA1A):c.1654T>G (p.Cys552Gly)
|
|
|
NM_001127222.2(CACNA1A):c.1655G>T (p.Cys552Phe)
|
rs2058057217
|
|
NM_001127222.2(CACNA1A):c.165A>G (p.Arg55=)
|
rs2145192452
|
|
NM_001127222.2(CACNA1A):c.1668+3A>G
|
|
|
NM_001127222.2(CACNA1A):c.1668+9T>C
|
rs794727054
|
|
NM_001127222.2(CACNA1A):c.1669G>T (p.Val557Phe)
|
rs1568519134
|
|
NM_001127222.2(CACNA1A):c.1690G>A (p.Glu564Lys)
|
rs1057519099
|
|
NM_001127222.2(CACNA1A):c.1706T>C (p.Val569Ala)
|
rs2145005688
|
|
NM_001127222.2(CACNA1A):c.1724C>T (p.Ser575Phe)
|
|
|
NM_001127222.2(CACNA1A):c.1739T>A (p.Val580Glu)
|
rs1064797233
|
|
NM_001127222.2(CACNA1A):c.173_175del (p.Thr58del)
|
rs1064795796
|
|
NM_001127222.2(CACNA1A):c.1763G>A (p.Arg588His)
|
|
|
NM_001127222.2(CACNA1A):c.176T>C (p.Met59Thr)
|
|
|
NM_001127222.2(CACNA1A):c.1781+3A>C
|
|
|
NM_001127222.2(CACNA1A):c.1781A>C (p.Lys594Thr)
|
rs2145005448
|
|
NM_001127222.2(CACNA1A):c.1822A>T (p.Asn608Tyr)
|
rs1476877900
|
|
NM_001127222.2(CACNA1A):c.1825T>A (p.Ser609Thr)
|
|
|
NM_001127222.2(CACNA1A):c.1870A>G (p.Ile624Val)
|
rs2145004096
|
|
NM_001127222.2(CACNA1A):c.1876G>A (p.Val626Ile)
|
rs1346036017
|
|
NM_001127222.2(CACNA1A):c.1885C>A (p.Leu629Ile)
|
rs2145003975
|
|
NM_001127222.2(CACNA1A):c.1889T>C (p.Leu630Ser)
|
rs1057521564
|
|
NM_001127222.2(CACNA1A):c.18C>T (p.Asp6=)
|
|
|
NM_001127222.2(CACNA1A):c.1906G>C (p.Gly636Arg)
|
rs943419160
|
|
NM_001127222.2(CACNA1A):c.191C>A (p.Pro64His)
|
rs2145192387
|
|
NM_001127222.2(CACNA1A):c.1923C>A (p.Phe641Leu)
|
|
|
NM_001127222.2(CACNA1A):c.1931G>A (p.Gly644Glu)
|
|
|
NM_001127222.2(CACNA1A):c.1951G>T (p.Asp651Tyr)
|
rs1244229103
|
|
NM_001127222.2(CACNA1A):c.1975A>G (p.Thr659Ala)
|
rs2145002197
|
|
NM_001127222.2(CACNA1A):c.1978_1980del (p.Val660del)
|
rs2057937382
|
|
NM_001127222.2(CACNA1A):c.1987-9C>A
|
rs747420630
|
|
NM_001127222.2(CACNA1A):c.1991T>C (p.Leu664Pro)
|
|
|
NM_001127222.2(CACNA1A):c.1996G>A (p.Gly666Ser)
|
rs2144980934
|
|
NM_001127222.2(CACNA1A):c.1996G>C (p.Gly666Arg)
|
rs2144980934
|
|
NM_001127222.2(CACNA1A):c.2011G>A (p.Glu671Lys)
|
rs1434942721
|
|
NM_001127222.2(CACNA1A):c.2018T>C (p.Met673Thr)
|
rs1064796036
|
|
NM_001127222.2(CACNA1A):c.2026G>A (p.Gly676Arg)
|
rs2144980758
|
|
NM_001127222.2(CACNA1A):c.203G>A (p.Arg68Gln)
|
rs576099495
|
|
NM_001127222.2(CACNA1A):c.203_214del (p.Arg68_Cys71del)
|
|
|
NM_001127222.2(CACNA1A):c.2045G>T (p.Gly682Val)
|
rs1057524618
|
|
NM_001127222.2(CACNA1A):c.2047G>A (p.Val683Met)
|
|
|
NM_001127222.2(CACNA1A):c.2056G>A (p.Gly686Ser)
|
rs1064795643
|
|
NM_001127222.2(CACNA1A):c.2074T>C (p.Tyr692His)
|
rs2144980511
|
|
NM_001127222.2(CACNA1A):c.2092C>T (p.Leu698Phe)
|
|
|
NM_001127222.2(CACNA1A):c.2131A>T (p.Ile711Phe)
|
rs1568514116
|
|
NM_001127222.2(CACNA1A):c.2144A>G (p.Asn715Ser)
|
rs1555757432
|
|
NM_001127222.2(CACNA1A):c.2154C>T (p.Asn718=)
|
|
|
NM_001127222.2(CACNA1A):c.2255C>A (p.Ser752Tyr)
|
rs535900273
|
|
NM_001127222.2(CACNA1A):c.227G>A (p.Arg76Gln)
|
|
|
NM_001127222.2(CACNA1A):c.2292G>C (p.Gln764His)
|
rs747111223
|
|
NM_001127222.2(CACNA1A):c.2304G>C (p.Lys768Asn)
|
rs771905201
|
|
NM_001127222.2(CACNA1A):c.2308G>A (p.Ala770Thr)
|
|
|
NM_001127222.2(CACNA1A):c.2320T>C (p.Trp774Arg)
|
rs1568509826
|
|
NM_001127222.2(CACNA1A):c.2330G>A (p.Arg777Gln)
|
|
|
NM_001127222.2(CACNA1A):c.2345G>A (p.Arg782Gln)
|
|
|
NM_001127222.2(CACNA1A):c.2352G>C (p.Gln784His)
|
rs2144958118
|
|
NM_001127222.2(CACNA1A):c.2362G>A (p.Ala788Thr)
|
rs1568509752
|
|
NM_001127222.2(CACNA1A):c.2369G>A (p.Arg790Gln)
|
rs2144957956
|
|
NM_001127222.2(CACNA1A):c.2374G>A (p.Ala792Thr)
|
|
|
NM_001127222.2(CACNA1A):c.2390T>C (p.Met797Thr)
|
rs121908241
|
|
NM_001127222.2(CACNA1A):c.2395C>A (p.Pro799Thr)
|
rs2144957730
|
|
NM_001127222.2(CACNA1A):c.2404C>T (p.Arg802Cys)
|
|
|
NM_001127222.2(CACNA1A):c.2413G>T (p.Ala805Ser)
|
|
|
NM_001127222.2(CACNA1A):c.2426G>A (p.Arg809Gln)
|
rs2057737782
|
|
NM_001127222.2(CACNA1A):c.2428C>T (p.His810Tyr)
|
|
|
NM_001127222.2(CACNA1A):c.2430C>A (p.His810Gln)
|
|
|
NM_001127222.2(CACNA1A):c.2443A>G (p.Met815Val)
|
|
|
NM_001127222.2(CACNA1A):c.2471T>A (p.Val824Glu)
|
|
|
NM_001127222.2(CACNA1A):c.2481G>A (p.Pro827=)
|
rs1568509413
|
|
NM_001127222.2(CACNA1A):c.2484G>C (p.Gln828His)
|
|
|
NM_001127222.2(CACNA1A):c.2492G>C (p.Arg831Pro)
|
rs1242675074
|
|
NM_001127222.2(CACNA1A):c.2495ACA[2] (p.Asn834del)
|
rs750962335
|
|
NM_001127222.2(CACNA1A):c.2504_2506del (p.Thr835del)
|
rs2144957032
|
|
NM_001127222.2(CACNA1A):c.2505C>T (p.Thr835=)
|
rs1246254915
|
|
NM_001127222.2(CACNA1A):c.2515C>T (p.Arg839Trp)
|
|
|
NM_001127222.2(CACNA1A):c.2516G>A (p.Arg839Gln)
|
|
|
NM_001127222.2(CACNA1A):c.2518_2529delinsCGG (p.Ala840_Pro843delinsArg)
|
rs2144956802
|
|
NM_001127222.2(CACNA1A):c.2530A>G (p.Thr844Ala)
|
|
|
NM_001127222.2(CACNA1A):c.2549G>A (p.Gly850Asp)
|
rs2144956644
|
|
NM_001127222.2(CACNA1A):c.2564A>C (p.Glu855Ala)
|
rs2057734618
|
|
NM_001127222.2(CACNA1A):c.2575A>G (p.Arg859Gly)
|
|
|
NM_001127222.2(CACNA1A):c.2582_2599del (p.Gln861_Asp866del)
|
rs767951499
|
|
NM_001127222.2(CACNA1A):c.2584G>A (p.Ala862Thr)
|
rs1283974516
|
|
NM_001127222.2(CACNA1A):c.2602G>A (p.Ala868Thr)
|
rs1175516920
|
|
NM_001127222.2(CACNA1A):c.2603C>T (p.Ala868Val)
|
|
|
NM_001127222.2(CACNA1A):c.2606G>C (p.Arg869Pro)
|
rs1057518589
|
|
NM_001127222.2(CACNA1A):c.2611C>G (p.Pro871Ala)
|
|
|
NM_001127222.2(CACNA1A):c.2611C>T (p.Pro871Ser)
|
rs780462531
|
|
NM_001127222.2(CACNA1A):c.2617G>C (p.Gly873Arg)
|
rs750660386
|
|
NM_001127222.2(CACNA1A):c.2617G>T (p.Gly873Cys)
|
|
|
NM_001127222.2(CACNA1A):c.2621C>T (p.Ser874Leu)
|
rs1057522802
|
|
NM_001127222.2(CACNA1A):c.2627G>C (p.Gly876Ala)
|
|
|
NM_001127222.2(CACNA1A):c.2657G>A (p.Ser886Asn)
|
rs2144955896
|
|
NM_001127222.2(CACNA1A):c.2683G>A (p.Gly895Arg)
|
|
|
NM_001127222.2(CACNA1A):c.2683G>C (p.Gly895Arg)
|
rs1358948688
|
|
NM_001127222.2(CACNA1A):c.2692G>C (p.Gly898Arg)
|
rs751726770
|
|
NM_001127222.2(CACNA1A):c.2726G>A (p.Ser909Asn)
|
rs1248444650
|
|
NM_001127222.2(CACNA1A):c.2729T>A (p.Leu910Gln)
|
rs953766694
|
|
NM_001127222.2(CACNA1A):c.2755G>A (p.Glu919Lys)
|
rs1555756130
|
|
NM_001127222.2(CACNA1A):c.2773G>A (p.Ala925Thr)
|
rs2144954889
|
|
NM_001127222.2(CACNA1A):c.2789G>C (p.Arg930Pro)
|
rs766234558
|
|
NM_001127222.2(CACNA1A):c.2807A>T (p.Gln936Leu)
|
rs1179931638
|
|
NM_001127222.2(CACNA1A):c.2809G>T (p.Gly937Trp)
|
|
|
NM_001127222.2(CACNA1A):c.2828G>A (p.Arg943His)
|
rs753862352
|
|
NM_001127222.2(CACNA1A):c.2833G>C (p.Gly945Arg)
|
rs527593196
|
|
NM_001127222.2(CACNA1A):c.2837C>T (p.Ser946Phe)
|
rs1156960165
|
|
NM_001127222.2(CACNA1A):c.2840C>T (p.Pro947Leu)
|
|
|
NM_001127222.2(CACNA1A):c.2857G>A (p.Gly953Arg)
|
rs1057518292
|
|
NM_001127222.2(CACNA1A):c.2867G>A (p.Arg956Gln)
|
rs551380805
|
|
NM_001127222.2(CACNA1A):c.2870G>A (p.Arg957His)
|
|
|
NM_001127222.2(CACNA1A):c.2875C>T (p.Arg959Cys)
|
rs2144953917
|
|
NM_001127222.2(CACNA1A):c.2885G>T (p.Arg962Leu)
|
|
|
NM_001127222.2(CACNA1A):c.2893G>C (p.Gly965Arg)
|
|
|
NM_001127222.2(CACNA1A):c.2896G>A (p.Glu966Lys)
|
rs747456771
|
|
NM_001127222.2(CACNA1A):c.2903G>A (p.Gly968Asp)
|
|
|
NM_001127222.2(CACNA1A):c.2914A>G (p.Lys972Glu)
|
rs2144953504
|
|
NM_001127222.2(CACNA1A):c.2924G>T (p.Arg975Leu)
|
rs748418783
|
|
NM_001127222.2(CACNA1A):c.2930C>T (p.Ala977Val)
|
rs1432898385
|
|
NM_001127222.2(CACNA1A):c.2931G>C (p.Ala977=)
|
|
|
NM_001127222.2(CACNA1A):c.2933G>C (p.Arg978Pro)
|
|
|
NM_001127222.2(CACNA1A):c.2935C>T (p.His979Tyr)
|
|
|
NM_001127222.2(CACNA1A):c.2936_2938dup (p.His979dup)
|
rs2144953287
|
|
NM_001127222.2(CACNA1A):c.2938C>G (p.Arg980Gly)
|
rs778978325
|
|
NM_001127222.2(CACNA1A):c.2939G>A (p.Arg980His)
|
rs1422954956
|
|
NM_001127222.2(CACNA1A):c.2947_2973del (p.Ser983_Gly991del)
|
|
|
NM_001127222.2(CACNA1A):c.2954C>T (p.Pro985Leu)
|
rs1478798895
|
|
NM_001127222.2(CACNA1A):c.2957C>A (p.Ala986Asp)
|
|
|
NM_001127222.2(CACNA1A):c.2959C>T (p.Arg987Trp)
|
rs1489702072
|
|
NM_001127222.2(CACNA1A):c.2960G>C (p.Arg987Pro)
|
rs955869211
|
|
NM_001127222.2(CACNA1A):c.2968GAGGGC[1] (p.990EG[1])
|
rs764399373
|
|
NM_001127222.2(CACNA1A):c.2968GAGGGC[4] (p.990EG[4])
|
rs764399373
|
|
NM_001127222.2(CACNA1A):c.2986C>G (p.Pro996Ala)
|
|
|
NM_001127222.2(CACNA1A):c.2989G>A (p.Asp997Asn)
|
rs2057721376
|
|
NM_001127222.2(CACNA1A):c.3002G>T (p.Arg1001Leu)
|
rs1424294725
|
|
NM_001127222.2(CACNA1A):c.3002_3019del (p.Arg1001_Arg1006del)
|
|
|
NM_001127222.2(CACNA1A):c.3009A>T (p.Arg1003Ser)
|
|
|
NM_001127222.2(CACNA1A):c.3017G>A (p.Arg1006Gln)
|
rs1268938831
|
|
NM_001127222.2(CACNA1A):c.3025G>A (p.Ala1009Thr)
|
rs1555755834
|
|
NM_001127222.2(CACNA1A):c.3025G>T (p.Ala1009Ser)
|
|
|
NM_001127222.2(CACNA1A):c.302A>C (p.Glu101Ala)
|
rs2060985088
|
|
NM_001127222.2(CACNA1A):c.3034_3048del (p.Thr1012_Asp1016del)
|
|
|
NM_001127222.2(CACNA1A):c.3046G>A (p.Asp1016Asn)
|
rs2057719269
|
|
NM_001127222.2(CACNA1A):c.3049G>C (p.Ala1017Pro)
|
rs1131691393
|
|
NM_001127222.2(CACNA1A):c.3055_3057delinsGGA (p.Arg1019Gly)
|
|
|
NM_001127222.2(CACNA1A):c.3058_3075dup (p.Arg1025_His1026insGluAspLysGluArgArg)
|
|
|
NM_001127222.2(CACNA1A):c.3061G>A (p.Asp1021Asn)
|
rs2144951917
|
|
NM_001127222.2(CACNA1A):c.3075G>T (p.Arg1025Ser)
|
rs1327191177
|
|
NM_001127222.2(CACNA1A):c.3076C>G (p.His1026Asp)
|
|
|
NM_001127222.2(CACNA1A):c.3079C>G (p.Arg1027Gly)
|
rs1064794406
|
|
NM_001127222.2(CACNA1A):c.3079C>T (p.Arg1027Trp)
|
|
|
NM_001127222.2(CACNA1A):c.3085A>G (p.Arg1029Gly)
|
|
|
NM_001127222.2(CACNA1A):c.3086G>A (p.Arg1029Lys)
|
|
|
NM_001127222.2(CACNA1A):c.3090-5C>T
|
rs976595665
|
|
NM_001127222.2(CACNA1A):c.3092A>G (p.Glu1031Gly)
|
rs886043930
|
|
NM_001127222.2(CACNA1A):c.3101G>A (p.Gly1034Asp)
|
rs2144889565
|
|
NM_001127222.2(CACNA1A):c.3109G>A (p.Val1037Ile)
|
rs769061598
|
|
NM_001127222.2(CACNA1A):c.3112C>T (p.Pro1038Ser)
|
|
|
NM_001127222.2(CACNA1A):c.3124C>A (p.Pro1042Thr)
|
rs2057414935
|
|
NM_001127222.2(CACNA1A):c.3167G>C (p.Arg1056Pro)
|
|
|
NM_001127222.2(CACNA1A):c.317C>T (p.Ala106Val)
|
|
|
NM_001127222.2(CACNA1A):c.3187G>C (p.Glu1063Gln)
|
|
|
NM_001127222.2(CACNA1A):c.3190G>A (p.Asp1064Asn)
|
|
|
NM_001127222.2(CACNA1A):c.3202A>T (p.Met1068Leu)
|
|
|
NM_001127222.2(CACNA1A):c.3241C>T (p.Pro1081Ser)
|
rs1467243087
|
|
NM_001127222.2(CACNA1A):c.3247G>C (p.Gly1083Arg)
|
rs753077104
|
|
NM_001127222.2(CACNA1A):c.3265G>A (p.Gly1089Ser)
|
rs201311000
|
|
NM_001127222.2(CACNA1A):c.3266G>A (p.Gly1089Asp)
|
|
|
NM_001127222.2(CACNA1A):c.3280C>T (p.Pro1094Ser)
|
rs761596969
|
|
NM_001127222.2(CACNA1A):c.329C>T (p.Ala110Val)
|
rs1085307798
|
|
NM_001127222.2(CACNA1A):c.3302C>T (p.Thr1101Ile)
|
rs768567834
|
|
NM_001127222.2(CACNA1A):c.3325A>T (p.Ile1109Phe)
|
rs1568495538
|
|
NM_001127222.2(CACNA1A):c.3355G>C (p.Ala1119Pro)
|
rs199745070
|
|
NM_001127222.2(CACNA1A):c.3367C>T (p.Arg1123Trp)
|
rs775079497
|
|
NM_001127222.2(CACNA1A):c.3399T>G (p.Asn1133Lys)
|
|
|
NM_001127222.2(CACNA1A):c.3400C>T (p.Pro1134Ser)
|
|
|
NM_001127222.2(CACNA1A):c.3404G>C (p.Gly1135Ala)
|
|
|
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.3413A>G (p.Lys1138Arg)
|
rs746555911
|
|
NM_001127222.2(CACNA1A):c.3416C>T (p.Thr1139Ile)
|
rs2144887603
|
|
NM_001127222.2(CACNA1A):c.3431T>C (p.Leu1144Pro)
|
rs1600245588
|
|
NM_001127222.2(CACNA1A):c.3451G>C (p.Gly1151Arg)
|
|
|
NM_001127222.2(CACNA1A):c.3464A>G (p.Asn1155Ser)
|
rs992828062
|
|
NM_001127222.2(CACNA1A):c.3467C>T (p.Ser1156Leu)
|
|
|
NM_001127222.2(CACNA1A):c.3469G>C (p.Ala1157Pro)
|
|
|
NM_001127222.2(CACNA1A):c.346G>T (p.Ala116Ser)
|
|
|
NM_001127222.2(CACNA1A):c.3478G>A (p.Ala1160Thr)
|
rs1256731049
|
|
NM_001127222.2(CACNA1A):c.3479C>G (p.Ala1160Gly)
|
rs766027931
|
|
NM_001127222.2(CACNA1A):c.3497C>A (p.Thr1166Asn)
|
|
|
NM_001127222.2(CACNA1A):c.3518C>G (p.Ala1173Gly)
|
rs778036647
|
|
NM_001127222.2(CACNA1A):c.3521G>T (p.Cys1174Phe)
|
|
|
NM_001127222.2(CACNA1A):c.3523C>T (p.Pro1175Ser)
|
|
|
NM_001127222.2(CACNA1A):c.3524C>T (p.Pro1175Leu)
|
|
|
NM_001127222.2(CACNA1A):c.3525A>C (p.Pro1175=)
|
rs886044439
|
|
NM_001127222.2(CACNA1A):c.3527C>A (p.Pro1176His)
|
|
|
NM_001127222.2(CACNA1A):c.3529C>A (p.Pro1177Thr)
|
rs1057522207
|
|
NM_001127222.2(CACNA1A):c.3529C>G (p.Pro1177Ala)
|
rs1057522207
|
|
NM_001127222.2(CACNA1A):c.3529C>T (p.Pro1177Ser)
|
rs1057522207
|
|
NM_001127222.2(CACNA1A):c.3530C>G (p.Pro1177Arg)
|
rs201789073
|
|
NM_001127222.2(CACNA1A):c.3531C>A (p.Pro1177=)
|
rs184723350
|
|
NM_001127222.2(CACNA1A):c.3531C>G (p.Pro1177=)
|
rs184723350
|
|
NM_001127222.2(CACNA1A):c.3532C>A (p.Leu1178Ile)
|
rs556266465
|
|
NM_001127222.2(CACNA1A):c.3532C>T (p.Leu1178Phe)
|
rs556266465
|
|
NM_001127222.2(CACNA1A):c.3535A>C (p.Asn1179His)
|
rs964526144
|
|
NM_001127222.2(CACNA1A):c.3536A>G (p.Asn1179Ser)
|
rs2144886914
|
|
NM_001127222.2(CACNA1A):c.354G>C (p.Glu118Asp)
|
rs2144947250
|
|
NM_001127222.2(CACNA1A):c.3553+5G>C
|
rs1600245165
|
|
NM_001127222.2(CACNA1A):c.3569A>G (p.Asn1190Ser)
|
|
|
NM_001127222.2(CACNA1A):c.3574G>A (p.Asp1192Asn)
|
rs773649403
|
|
NM_001127222.2(CACNA1A):c.3590A>C (p.Lys1197Thr)
|
|
|
NM_001127222.2(CACNA1A):c.3593A>G (p.Glu1198Gly)
|
|
|
NM_001127222.2(CACNA1A):c.3596A>G (p.Glu1199Gly)
|
|
|
NM_001127222.2(CACNA1A):c.35A>T (p.Tyr12Phe)
|
rs994265107
|
|
NM_001127222.2(CACNA1A):c.3606GGA[3] (p.Glu1206del)
|
rs750826355
|
|
NM_001127222.2(CACNA1A):c.3613G>A (p.Glu1205Lys)
|
|
|
NM_001127222.2(CACNA1A):c.3625C>A (p.Arg1209Ser)
|
rs781026181
|
|
NM_001127222.2(CACNA1A):c.3625C>T (p.Arg1209Cys)
|
rs781026181
|
|
NM_001127222.2(CACNA1A):c.3633A>C (p.Glu1211Asp)
|
rs1555752275
|
|
NM_001127222.2(CACNA1A):c.3637G>A (p.Gly1213Ser)
|
rs767000559
|
|
NM_001127222.2(CACNA1A):c.3637G>T (p.Gly1213Cys)
|
|
|
NM_001127222.2(CACNA1A):c.3638G>A (p.Gly1213Asp)
|
|
|
NM_001127222.2(CACNA1A):c.3644A>G (p.Lys1215Arg)
|
rs1425955042
|
|
NM_001127222.2(CACNA1A):c.368A>G (p.Asp123Gly)
|
|
|
NM_001127222.2(CACNA1A):c.3692C>T (p.Pro1231Leu)
|
|
|
NM_001127222.2(CACNA1A):c.3698G>A (p.Arg1233His)
|
|
|
NM_001127222.2(CACNA1A):c.3727C>T (p.Arg1243Cys)
|
rs1057524818
|
|
NM_001127222.2(CACNA1A):c.3728G>A (p.Arg1243His)
|
|
|
NM_001127222.2(CACNA1A):c.372T>G (p.Asp124Glu)
|
|
|
NM_001127222.2(CACNA1A):c.3764T>C (p.Met1255Thr)
|
rs1085307644
|
|
NM_001127222.2(CACNA1A):c.3770G>A (p.Ser1257Asn)
|
rs2144871537
|
|
NM_001127222.2(CACNA1A):c.3775G>A (p.Ala1259Thr)
|
|
|
NM_001127222.2(CACNA1A):c.3797T>C (p.Val1266Ala)
|
rs2144871393
|
|
NM_001127222.2(CACNA1A):c.37G>C (p.Gly13Arg)
|
|
|
NM_001127222.2(CACNA1A):c.3815G>A (p.Arg1272Gln)
|
rs2057331138
|
|
NM_001127222.2(CACNA1A):c.3817AAC[1] (p.Asn1274del)
|
rs1085307864
|
|
NM_001127222.2(CACNA1A):c.3820A>G (p.Asn1274Asp)
|
rs2144871278
|
|
NM_001127222.2(CACNA1A):c.3848T>C (p.Phe1283Ser)
|
rs2057169274
|
|
NM_001127222.2(CACNA1A):c.3856G>A (p.Val1286Ile)
|
|
|
NM_001127222.2(CACNA1A):c.3868G>C (p.Glu1290Gln)
|
rs2144839606
|
|
NM_001127222.2(CACNA1A):c.4028C>T (p.Ser1343Phe)
|
|
|
NM_001127222.2(CACNA1A):c.4035_4043del (p.1346VLR[1])
|
|
|
NM_001127222.2(CACNA1A):c.4064C>T (p.Thr1355Ile)
|
rs2056767062
|
|
NM_001127222.2(CACNA1A):c.41_55dup (p.Gly14_Gly18dup)
|
rs1057519100
|
|
NM_001127222.2(CACNA1A):c.422T>C (p.Ile141Thr)
|
rs2144936441
|
|
NM_001127222.2(CACNA1A):c.4251-7G>A
|
rs761136437
|
|
NM_001127222.2(CACNA1A):c.4270G>A (p.Glu1424Lys)
|
|
|
NM_001127222.2(CACNA1A):c.4276A>G (p.Asn1426Asp)
|
rs1005591842
|
|
NM_001127222.2(CACNA1A):c.4281G>T (p.Glu1427Asp)
|
rs768693060
|
|
NM_001127222.2(CACNA1A):c.428T>A (p.Ile143Asn)
|
rs2144936410
|
|
NM_001127222.2(CACNA1A):c.4290G>T (p.Ala1430=)
|
rs555959123
|
|
NM_001127222.2(CACNA1A):c.4297C>T (p.Arg1433Trp)
|
rs1275025158
|
|
NM_001127222.2(CACNA1A):c.4298G>A (p.Arg1433Gln)
|
rs2144758462
|
|
NM_001127222.2(CACNA1A):c.4327G>A (p.Asp1443Asn)
|
rs1443877971
|
|
NM_001127222.2(CACNA1A):c.4337T>C (p.Leu1446Pro)
|
|
|
NM_001127222.2(CACNA1A):c.439G>C (p.Glu147Gln)
|
|
|
NM_001127222.2(CACNA1A):c.43G>A (p.Gly15Arg)
|
|
|
NM_001127222.2(CACNA1A):c.4448G>A (p.Arg1483His)
|
|
|
NM_001127222.2(CACNA1A):c.4448G>T (p.Arg1483Leu)
|
rs1271930393
|
|
NM_001127222.2(CACNA1A):c.4469A>G (p.Tyr1490Cys)
|
rs1064795901
|
|
NM_001127222.2(CACNA1A):c.4478A>G (p.Tyr1493Cys)
|
|
|
NM_001127222.2(CACNA1A):c.4499T>G (p.Phe1500Cys)
|
|
|
NM_001127222.2(CACNA1A):c.4527C>G (p.Ile1509Met)
|
rs2144748282
|
|
NM_001127222.2(CACNA1A):c.4556A>G (p.Lys1519Arg)
|
rs752888622
|
|
NM_001127222.2(CACNA1A):c.455T>A (p.Ile152Asn)
|
|
|
NM_001127222.2(CACNA1A):c.4573A>C (p.Ser1525Arg)
|
|
|
NM_001127222.2(CACNA1A):c.4574G>A (p.Ser1525Asn)
|
rs2056600119
|
|
NM_001127222.2(CACNA1A):c.4594G>A (p.Ala1532Thr)
|
|
|
NM_001127222.2(CACNA1A):c.4618G>C (p.Ala1540Pro)
|
|
|
NM_001127222.2(CACNA1A):c.4625C>T (p.Pro1542Leu)
|
rs773901223
|
|
NM_001127222.2(CACNA1A):c.4643C>T (p.Pro1548Leu)
|
rs1275097177
|
|
NM_001127222.2(CACNA1A):c.4669C>T (p.Arg1557Cys)
|
|
|
NM_001127222.2(CACNA1A):c.4684G>A (p.Val1562Met)
|
rs1568465560
|
|
NM_001127222.2(CACNA1A):c.4684G>C (p.Val1562Leu)
|
rs1568465560
|
|
NM_001127222.2(CACNA1A):c.4694C>T (p.Pro1565Leu)
|
|
|
NM_001127222.2(CACNA1A):c.4708A>T (p.Thr1570Ser)
|
rs750368591
|
|
NM_001127222.2(CACNA1A):c.4714A>G (p.Met1572Val)
|
rs2056510928
|
|
NM_001127222.2(CACNA1A):c.4726G>A (p.Ala1576Thr)
|
rs2056510591
|
|
NM_001127222.2(CACNA1A):c.4738A>G (p.Ile1580Val)
|
|
|
NM_001127222.2(CACNA1A):c.4741G>A (p.Val1581Met)
|
|
|
NM_001127222.2(CACNA1A):c.4747A>C (p.Met1583Leu)
|
|
|
NM_001127222.2(CACNA1A):c.4760A>G (p.Tyr1587Cys)
|
|
|
NM_001127222.2(CACNA1A):c.4764G>A (p.Gly1588=)
|
rs1294804448
|
|
NM_001127222.2(CACNA1A):c.4792C>T (p.Arg1598Trp)
|
|
|
NM_001127222.2(CACNA1A):c.4793G>A (p.Arg1598Gln)
|
|
|
NM_001127222.2(CACNA1A):c.4801A>G (p.Asn1601Asp)
|
|
|
NM_001127222.2(CACNA1A):c.4836T>G (p.Cys1612Trp)
|
rs781413708
|
|
NM_001127222.2(CACNA1A):c.4847T>C (p.Val1616Ala)
|
|
|
NM_001127222.2(CACNA1A):c.4867-7dup
|
rs2056196193
|
|
NM_001127222.2(CACNA1A):c.4874T>G (p.Phe1625Cys)
|
rs771061659
|
|
NM_001127222.2(CACNA1A):c.4916G>A (p.Gly1639Asp)
|
rs2144691967
|
|
NM_001127222.2(CACNA1A):c.4927G>A (p.Asp1643Asn)
|
rs1064795531
|
|
NM_001127222.2(CACNA1A):c.4936G>C (p.Val1646Leu)
|
|
|
NM_001127222.2(CACNA1A):c.4949G>A (p.Gly1650Glu)
|
|
|
NM_001127222.2(CACNA1A):c.4950+3668C>T
|
|
|
NM_001127222.2(CACNA1A):c.4950+6T>C
|
|
|
NM_001127222.2(CACNA1A):c.4956C>T (p.Asn1652=)
|
|
|
NM_001127222.2(CACNA1A):c.4975C>T (p.Leu1659Phe)
|
rs2144649877
|
|
NM_001127222.2(CACNA1A):c.4997G>A (p.Arg1666Gln)
|
rs1568447650
|
|
NM_001127222.2(CACNA1A):c.5014C>T (p.Arg1672Cys)
|
rs794727558
|
|
NM_001127222.2(CACNA1A):c.5021G>A (p.Gly1674Asp)
|
rs895744093
|
|
NM_001127222.2(CACNA1A):c.5021G>T (p.Gly1674Val)
|
|
|
NM_001127222.2(CACNA1A):c.5048C>T (p.Thr1683Ile)
|
rs1568447571
|
|
NM_001127222.2(CACNA1A):c.504C>G (p.Gly168=)
|
rs1555789105
|
|
NM_001127222.2(CACNA1A):c.5053G>A (p.Val1685Met)
|
rs1442400930
|
|
NM_001127222.2(CACNA1A):c.5057A>G (p.Gln1686Arg)
|
rs2055848608
|
|
NM_001127222.2(CACNA1A):c.5068G>A (p.Ala1690Thr)
|
|
|
NM_001127222.2(CACNA1A):c.5069C>A (p.Ala1690Asp)
|
|
|
NM_001127222.2(CACNA1A):c.5069C>T (p.Ala1690Val)
|
|
|
NM_001127222.2(CACNA1A):c.5098A>G (p.Met1700Val)
|
|
|
NM_001127222.2(CACNA1A):c.50C>G (p.Ser17Cys)
|
rs931963287
|
|
NM_001127222.2(CACNA1A):c.50C>T (p.Ser17Phe)
|
|
|
NM_001127222.2(CACNA1A):c.5117C>T (p.Ala1706Val)
|
|
|
NM_001127222.2(CACNA1A):c.511G>A (p.Val171Ile)
|
|
|
NM_001127222.2(CACNA1A):c.5130G>A (p.Met1710Ile)
|
|
|
NM_001127222.2(CACNA1A):c.5133+5G>A
|
rs2144647781
|
|
NM_001127222.2(CACNA1A):c.5141G>A (p.Gly1714Asp)
|
|
|
NM_001127222.2(CACNA1A):c.5146A>C (p.Ile1716Leu)
|
|
|
NM_001127222.2(CACNA1A):c.5162A>G (p.Glu1721Gly)
|
rs1273682125
|
|
NM_001127222.2(CACNA1A):c.5165A>G (p.Asp1722Gly)
|
|
|
NM_001127222.2(CACNA1A):c.5171A>G (p.Asp1724Gly)
|
|
|
NM_001127222.2(CACNA1A):c.5182G>A (p.Asp1728Asn)
|
rs1436816057
|
|
NM_001127222.2(CACNA1A):c.5209A>T (p.Asn1737Tyr)
|
rs2144646664
|
|
NM_001127222.2(CACNA1A):c.5213T>C (p.Phe1738Ser)
|
rs2144646654
|
|
NM_001127222.2(CACNA1A):c.5216G>A (p.Arg1739Gln)
|
|
|
NM_001127222.2(CACNA1A):c.5236A>G (p.Met1746Val)
|
|
|
NM_001127222.2(CACNA1A):c.5249G>A (p.Arg1750Gln)
|
rs781588570
|
|
NM_001127222.2(CACNA1A):c.5253T>G (p.Ser1751Arg)
|
rs2144629875
|
|
NM_001127222.2(CACNA1A):c.5258C>G (p.Thr1753Ser)
|
|
|
NM_001127222.2(CACNA1A):c.5261G>T (p.Gly1754Val)
|
|
|
NM_001127222.2(CACNA1A):c.526G>A (p.Val176Met)
|
rs1057521920
|
|
NM_001127222.2(CACNA1A):c.526G>C (p.Val176Leu)
|
rs1057521920
|
|
NM_001127222.2(CACNA1A):c.529G>T (p.Val177Leu)
|
|
|
NM_001127222.2(CACNA1A):c.5312A>G (p.Asp1771Gly)
|
|
|
NM_001127222.2(CACNA1A):c.532C>G (p.Leu178Val)
|
|
|
NM_001127222.2(CACNA1A):c.5341T>C (p.Cys1781Arg)
|
rs1600130730
|
|
NM_001127222.2(CACNA1A):c.5401-9T>A
|
|
|
NM_001127222.2(CACNA1A):c.5405T>C (p.Leu1802Pro)
|
|
|
NM_001127222.2(CACNA1A):c.5419G>A (p.Ala1807Thr)
|
rs1555736565
|
|
NM_001127222.2(CACNA1A):c.5453G>C (p.Arg1818Pro)
|
rs745900417
|
|
NM_001127222.2(CACNA1A):c.5455G>A (p.Asp1819Asn)
|
rs867018315
|
|
NM_001127222.2(CACNA1A):c.5464A>G (p.Ile1822Val)
|
rs1600127153
|
|
NM_001127222.2(CACNA1A):c.5468T>C (p.Leu1823Pro)
|
rs1057521706
|
|
NM_001127222.2(CACNA1A):c.5471G>A (p.Gly1824Asp)
|
rs1064795321
|
|
NM_001127222.2(CACNA1A):c.5479C>G (p.His1827Asp)
|
rs1064795658
|
|
NM_001127222.2(CACNA1A):c.5488G>A (p.Glu1830Lys)
|
rs746886324
|
|
NM_001127222.2(CACNA1A):c.5494G>A (p.Val1832Met)
|
|
|
NM_001127222.2(CACNA1A):c.5517C>A (p.Asp1839Glu)
|
rs372083869
|
|
NM_001127222.2(CACNA1A):c.5530G>A (p.Gly1844Ser)
|
rs1568439088
|
|
NM_001127222.2(CACNA1A):c.5552T>C (p.Met1851Thr)
|
|
|
NM_001127222.2(CACNA1A):c.55G>A (p.Ala19Thr)
|
rs923359230
|
|
NM_001127222.2(CACNA1A):c.560C>T (p.Thr187Met)
|
rs1015798325
|
|
NM_001127222.2(CACNA1A):c.562G>C (p.Glu188Gln)
|
rs2059326934
|
|
NM_001127222.2(CACNA1A):c.5636G>A (p.Arg1879Gln)
|
rs1010331313
|
|
NM_001127222.2(CACNA1A):c.5645T>C (p.Leu1882Pro)
|
|
|
NM_001127222.2(CACNA1A):c.5653G>A (p.Ala1885Thr)
|
|
|
NM_001127222.2(CACNA1A):c.5654C>G (p.Ala1885Gly)
|
|
|
NM_001127222.2(CACNA1A):c.5659G>T (p.Asp1887Tyr)
|
rs2144595137
|
|
NM_001127222.2(CACNA1A):c.5663A>G (p.Asn1888Ser)
|
rs756378742
|
|
NM_001127222.2(CACNA1A):c.5685C>T (p.Thr1895=)
|
rs757291476
|
|
NM_001127222.2(CACNA1A):c.5696T>C (p.Leu1899Pro)
|
|
|
NM_001127222.2(CACNA1A):c.5702G>A (p.Arg1901His)
|
rs2144595024
|
|
NM_001127222.2(CACNA1A):c.5731G>A (p.Gly1911Arg)
|
rs751603485
|
|
NM_001127222.2(CACNA1A):c.5741A>G (p.Asp1914Gly)
|
|
|
NM_001127222.2(CACNA1A):c.5753T>C (p.Met1918Thr)
|
|
|
NM_001127222.2(CACNA1A):c.5755G>A (p.Asp1919Asn)
|
rs1064794441
|
|
NM_001127222.2(CACNA1A):c.5761G>A (p.Glu1921Lys)
|
rs2144537759
|
|
NM_001127222.2(CACNA1A):c.5803C>A (p.Gln1935Lys)
|
rs2144537491
|
|
NM_001127222.2(CACNA1A):c.5824G>A (p.Val1942Ile)
|
|
|
NM_001127222.2(CACNA1A):c.5827A>G (p.Thr1943Ala)
|
rs2144537372
|
|
NM_001127222.2(CACNA1A):c.5840-15TG[3]
|
|
|
NM_001127222.2(CACNA1A):c.5866T>C (p.Tyr1956His)
|
|
|
NM_001127222.2(CACNA1A):c.5880G>A (p.Met1960Ile)
|
rs1085307557
|
|
NM_001127222.2(CACNA1A):c.5891A>G (p.Tyr1964Cys)
|
rs1555732391
|
|
NM_001127222.2(CACNA1A):c.5896C>T (p.Arg1966Trp)
|
rs1269205597
|
|
NM_001127222.2(CACNA1A):c.5897G>T (p.Arg1966Leu)
|
rs199886234
|
|
NM_001127222.2(CACNA1A):c.589G>A (p.Val197Ile)
|
rs1005884911
|
|
NM_001127222.2(CACNA1A):c.5915A>C (p.Lys1972Thr)
|
|
|
NM_001127222.2(CACNA1A):c.5924C>A (p.Ala1975Asp)
|
|
|
NM_001127222.2(CACNA1A):c.592C>G (p.Arg198Gly)
|
rs886042230
|
|
NM_001127222.2(CACNA1A):c.5930G>A (p.Arg1977His)
|
rs1057521547
|
|
NM_001127222.2(CACNA1A):c.593G>A (p.Arg198Gln)
|
rs797045424
|
|
NM_001127222.2(CACNA1A):c.5944C>T (p.Arg1982Trp)
|
|
|
NM_001127222.2(CACNA1A):c.5948C>T (p.Thr1983Ile)
|
rs947850652
|
|
NM_001127222.2(CACNA1A):c.5971G>C (p.Glu1991Gln)
|
rs2054860673
|
|
NM_001127222.2(CACNA1A):c.5987C>G (p.Thr1996Arg)
|
|
|
NM_001127222.2(CACNA1A):c.5995G>C (p.Gly1999Arg)
|
|
|
NM_001127222.2(CACNA1A):c.6026C>A (p.Thr2009Asn)
|
rs776574979
|
|
NM_001127222.2(CACNA1A):c.602G>A (p.Arg201Gln)
|
rs2059326410
|
|
NM_001127222.2(CACNA1A):c.6030G>T (p.Gln2010His)
|
|
|
NM_001127222.2(CACNA1A):c.6037C>A (p.Pro2013Thr)
|
|
|
NM_001127222.2(CACNA1A):c.6051-7C>G
|
rs776664699
|
|
NM_001127222.2(CACNA1A):c.6058C>T (p.His2020Tyr)
|
rs2144525195
|
|
NM_001127222.2(CACNA1A):c.6060C>A (p.His2020Gln)
|
|
|
NM_001127222.2(CACNA1A):c.6065G>A (p.Ser2022Asn)
|
rs2144525162
|
|
NM_001127222.2(CACNA1A):c.6073A>C (p.Lys2025Gln)
|
rs2144525077
|
|
NM_001127222.2(CACNA1A):c.6079A>G (p.Ser2027Gly)
|
rs2054851950
|
|
NM_001127222.2(CACNA1A):c.6081C>A (p.Ser2027Arg)
|
rs2144525037
|
|
NM_001127222.2(CACNA1A):c.6085T>C (p.Ser2029Pro)
|
|
|
NM_001127222.2(CACNA1A):c.6098A>G (p.Gln2033Arg)
|
|
|
NM_001127222.2(CACNA1A):c.6107A>T (p.Gln2036Leu)
|
|
|
NM_001127222.2(CACNA1A):c.611A>G (p.Lys204Arg)
|
rs2144559219
|
|
NM_001127222.2(CACNA1A):c.6155C>T (p.Pro2052Leu)
|
|
|
NM_001127222.2(CACNA1A):c.6181A>C (p.Asn2061His)
|
rs974724726
|
|
NM_001127222.2(CACNA1A):c.6217G>C (p.Asp2073His)
|
|
|
NM_001127222.2(CACNA1A):c.6229G>T (p.Asp2077Tyr)
|
|
|
NM_001127222.2(CACNA1A):c.622G>A (p.Gly208Arg)
|
rs1568581246
|
|
NM_001127222.2(CACNA1A):c.6247C>T (p.Pro2083Ser)
|
rs1244966977
|
|
NM_001127222.2(CACNA1A):c.6250A>G (p.Met2084Val)
|
rs1451713531
|
|
NM_001127222.2(CACNA1A):c.6263G>C (p.Gly2088Ala)
|
rs759252101
|
|
NM_001127222.2(CACNA1A):c.6265C>T (p.Arg2089Trp)
|
|
|
NM_001127222.2(CACNA1A):c.6272C>T (p.Ala2091Val)
|
rs377051916
|
|
NM_001127222.2(CACNA1A):c.6278T>C (p.Met2093Thr)
|
|
|
NM_001127222.2(CACNA1A):c.6304-13G>A
|
|
|
NM_001127222.2(CACNA1A):c.6305G>A (p.Arg2102Lys)
|
rs866974416
|
|
NM_001127222.2(CACNA1A):c.631+4C>T
|
rs1568581241
|
|
NM_001127222.2(CACNA1A):c.631+5G>A
|
rs786200963
|
|
NM_001127222.2(CACNA1A):c.6317G>T (p.Arg2106Leu)
|
rs373229577
|
|
NM_001127222.2(CACNA1A):c.6323G>A (p.Arg2108His)
|
rs867865729
|
|
NM_001127222.2(CACNA1A):c.6341C>T (p.Thr2114Ile)
|
|
|
NM_001127222.2(CACNA1A):c.6358C>T (p.Pro2120Ser)
|
rs2054721635
|
|
NM_001127222.2(CACNA1A):c.6359C>T (p.Pro2120Leu)
|
|
|
NM_001127222.2(CACNA1A):c.6361A>T (p.Met2121Leu)
|
rs1317004203
|
|
NM_001127222.2(CACNA1A):c.6362T>C (p.Met2121Thr)
|
|
|
NM_001127222.2(CACNA1A):c.6365A>G (p.Lys2122Arg)
|
rs2144506548
|
|
NM_001127222.2(CACNA1A):c.6367C>G (p.Arg2123Gly)
|
|
|
NM_001127222.2(CACNA1A):c.6368G>A (p.Arg2123His)
|
rs1220294928
|
|
NM_001127222.2(CACNA1A):c.6371C>T (p.Ser2124Leu)
|
|
|
NM_001127222.2(CACNA1A):c.638A>G (p.Gln213Arg)
|
|
|
NM_001127222.2(CACNA1A):c.6394_6423del (p.Ala2132_Glu2141del)
|
|
|
NM_001127222.2(CACNA1A):c.6395C>T (p.Ala2132Val)
|
|
|
NM_001127222.2(CACNA1A):c.6406G>C (p.Asp2136His)
|
rs1173266790
|
|
NM_001127222.2(CACNA1A):c.6409G>A (p.Asp2137Asn)
|
rs755880731
|
|
NM_001127222.2(CACNA1A):c.6419T>G (p.Leu2140Arg)
|
|
|
NM_001127222.2(CACNA1A):c.6425G>A (p.Arg2142Gln)
|
rs1268148205
|
|
NM_001127222.2(CACNA1A):c.6448C>G (p.Arg2150Gly)
|
rs756780624
|
|
NM_001127222.2(CACNA1A):c.6452_6463del (p.His2151_Arg2154del)
|
rs1469809752
|
|
NM_001127222.2(CACNA1A):c.6464G>A (p.Arg2155His)
|
rs572722130
|
|
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.6469G>C (p.Asp2157His)
|
|
|
NM_001127222.2(CACNA1A):c.6487T>G (p.Ser2163Ala)
|
|
|
NM_001127222.2(CACNA1A):c.6490G>C (p.Glu2164Gln)
|
|
|
NM_001127222.2(CACNA1A):c.6514G>A (p.Asp2172Asn)
|
rs370289732
|
|
NM_001127222.2(CACNA1A):c.6514G>T (p.Asp2172Tyr)
|
rs370289732
|
|
NM_001127222.2(CACNA1A):c.6515A>G (p.Asp2172Gly)
|
rs2054713924
|
|
NM_001127222.2(CACNA1A):c.6529T>G (p.Leu2177Val)
|
|
|
NM_001127222.2(CACNA1A):c.6542T>C (p.Leu2181Pro)
|
rs2144502972
|
|
NM_001127222.2(CACNA1A):c.6572C>A (p.Pro2191Gln)
|
|
|
NM_001127222.2(CACNA1A):c.65G>A (p.Gly22Glu)
|
rs1983011989
|
|
NM_001127222.2(CACNA1A):c.6604C>T (p.Pro2202Ser)
|
|
|
NM_001127222.2(CACNA1A):c.6613C>G (p.Arg2205Gly)
|
rs780467849
|
|
NM_001127222.2(CACNA1A):c.6613C>T (p.Arg2205Trp)
|
rs780467849
|
|
NM_001127222.2(CACNA1A):c.6622C>G (p.Arg2208Gly)
|
|
|
NM_001127222.2(CACNA1A):c.6623_6628dup (p.Arg2208_Gln2209dup)
|
rs1247003992
|
|
NM_001127222.2(CACNA1A):c.6627G>C (p.Gln2209His)
|
|
|
NM_001127222.2(CACNA1A):c.6627_6629dup (p.Gln2209_His2210insGln)
|
|
|
NM_001127222.2(CACNA1A):c.6627_6632dup (p.His2210_His2211insGlnHis)
|
|
|
NM_001127222.2(CACNA1A):c.6630CCA[10] (p.His2219dup)
|
rs759331923
|
|
NM_001127222.2(CACNA1A):c.6630CCA[6] (p.His2217_His2219del)
|
rs759331923
|
|
NM_001127222.2(CACNA1A):c.6635A>G (p.His2212Arg)
|
|
|
NM_001127222.2(CACNA1A):c.6637C>T (p.His2213Tyr)
|
rs1555730624
|
|
NM_001127222.2(CACNA1A):c.6641A>G (p.His2214Arg)
|
rs1600079735
|
|
NM_001127222.2(CACNA1A):c.6647_6658del (p.His2216_His2219del)
|
rs770368215
|
|
NM_001127222.2(CACNA1A):c.6653_6658del (p.His2218_His2219del)
|
rs774721955
|
|
NM_001127222.2(CACNA1A):c.6656_6657delinsCC (p.His2219Pro)
|
rs1085307607
|
|
NM_001127222.2(CACNA1A):c.6657delinsCCAC (p.His2219dup)
|
rs1057518615
|
|
NM_001127222.2(CACNA1A):c.6659ACC[3] (p.His2217_His2219dup)
|
rs768950814
|
|
NM_001127222.2(CACNA1A):c.6664C>T (p.Pro2222Ser)
|
|
|
NM_001127222.2(CACNA1A):c.6666_6672del (p.Pro2223fs)
|
|
|
NM_001127222.2(CACNA1A):c.6669C>T (p.Pro2223=)
|
rs2304094
|
|
NM_001127222.2(CACNA1A):c.6680G>A (p.Arg2227His)
|
rs1064793075
|
|
NM_001127222.2(CACNA1A):c.6680G>T (p.Arg2227Leu)
|
rs1064793075
|
|
NM_001127222.2(CACNA1A):c.6682T>C (p.Tyr2228His)
|
|
|
NM_001127222.2(CACNA1A):c.6696dup (p.Pro2233fs)
|
rs2144501188
|
|
NM_001127222.2(CACNA1A):c.6704A>G (p.His2235Arg)
|
rs758639263
|
|
NM_001127222.2(CACNA1A):c.6781-12A>G
|
rs1289629816
|
|
NM_001127222.2(CACNA1A):c.680T>G (p.Leu227Arg)
|
rs1057522420
|
|
NM_001127222.2(CACNA1A):c.6834_6875dup (p.Arg2294_Pro2295insArgGlyArgArgGlnLeuProGlnThrProSerThrProArg)
|
|
|
NM_001127222.2(CACNA1A):c.6839G>T (p.Arg2280Leu)
|
|
|
NM_001127222.2(CACNA1A):c.6841C>T (p.Arg2281Trp)
|
|
|
NM_001127222.2(CACNA1A):c.6848G>A (p.Arg2283His)
|
|
|
NM_001127222.2(CACNA1A):c.68T>C (p.Val23Ala)
|
|
|
NM_001127222.2(CACNA1A):c.6923G>A (p.Gly2308Asp)
|
|
|
NM_001127222.2(CACNA1A):c.692T>G (p.Leu231Arg)
|
rs1599292506
|
|
NM_001127222.2(CACNA1A):c.7061C>T (p.Pro2354Leu)
|
rs1421650967
|
|
NM_001127222.2(CACNA1A):c.7097G>C (p.Arg2366Thr)
|
|
|
NM_001127222.2(CACNA1A):c.7124C>A (p.Ala2375Asp)
|
rs2054617959
|
|
NM_001127222.2(CACNA1A):c.7124C>T (p.Ala2375Val)
|
|
|
NM_001127222.2(CACNA1A):c.7151G>A (p.Arg2384Gln)
|
|
|
NM_001127222.2(CACNA1A):c.7165C>T (p.Arg2389Trp)
|
rs987861675
|
|
NM_001127222.2(CACNA1A):c.716T>C (p.Ile239Thr)
|
rs1599292445
|
|
NM_001127222.2(CACNA1A):c.7190T>C (p.Val2397Ala)
|
|
|
NM_001127222.2(CACNA1A):c.7210C>G (p.Pro2404Ala)
|
|
|
NM_001127222.2(CACNA1A):c.7219C>T (p.His2407Tyr)
|
|
|
NM_001127222.2(CACNA1A):c.7235G>T (p.Gly2412Val)
|
rs775829854
|
|
NM_001127222.2(CACNA1A):c.7240G>A (p.Asp2414Asn)
|
rs1568416040
|
|
NM_001127222.2(CACNA1A):c.7282G>A (p.Glu2428Lys)
|
|
|
NM_001127222.2(CACNA1A):c.7301A>G (p.Tyr2434Cys)
|
|
|
NM_001127222.2(CACNA1A):c.7317dup (p.Val2440fs)
|
rs1214586505
|
|
NM_001127222.2(CACNA1A):c.7318G>A (p.Val2440Ile)
|
|
|
NM_001127222.2(CACNA1A):c.7318_7332dup (p.Ser2444_Ser2445insValArgHisAlaSer)
|
|
|
NM_001127222.2(CACNA1A):c.7322G>A (p.Arg2441Gln)
|
|
|
NM_001127222.2(CACNA1A):c.7347G>A (p.Gly2449=)
|
|
|
NM_001127222.2(CACNA1A):c.7348C>T (p.Arg2450Cys)
|
rs1397153104
|
|
NM_001127222.2(CACNA1A):c.7369G>T (p.Ala2457Ser)
|
rs954720308
|
|
NM_001127222.2(CACNA1A):c.7378_7402del (p.Pro2460fs)
|
rs2144488778
|
|
NM_001127222.2(CACNA1A):c.7391C>T (p.Ser2464Leu)
|
rs1171910645
|
|
NM_001127222.2(CACNA1A):c.7400G>A (p.Arg2467Gln)
|
rs1199275549
|
|
NM_001127222.2(CACNA1A):c.7400G>C (p.Arg2467Pro)
|
rs1199275549
|
|
NM_001127222.2(CACNA1A):c.7408C>T (p.Arg2470Trp)
|
|
|
NM_001127222.2(CACNA1A):c.7433C>T (p.Pro2478Leu)
|
|
|
NM_001127222.2(CACNA1A):c.7436C>G (p.Ala2479Gly)
|
rs758817759
|
|
NM_001127222.2(CACNA1A):c.751A>G (p.Lys251Glu)
|
rs2144522916
|
|
NM_001127222.2(CACNA1A):c.75G>T (p.Val25=)
|
|
|
NM_001127222.2(CACNA1A):c.762C>T (p.Thr254=)
|
|
|
NM_001127222.2(CACNA1A):c.772G>A (p.Glu258Lys)
|
|
|
NM_001127222.2(CACNA1A):c.781A>G (p.Thr261Ala)
|
|
|
NM_001127222.2(CACNA1A):c.784+3A>G
|
|
|
NM_001127222.2(CACNA1A):c.784G>A (p.Asp262Asn)
|
|
|
NM_001127222.2(CACNA1A):c.788A>G (p.Asp263Gly)
|
|
|
NM_001127222.2(CACNA1A):c.811C>G (p.Pro271Ala)
|
|
|
NM_001127222.2(CACNA1A):c.832G>A (p.Ala278Thr)
|
rs1013100046
|
|
NM_001127222.2(CACNA1A):c.833C>T (p.Ala278Val)
|
rs1064796561
|
|
NM_001127222.2(CACNA1A):c.853A>C (p.Thr285Pro)
|
rs2145245518
|
|
NM_001127222.2(CACNA1A):c.865C>T (p.Pro289Ser)
|
|
|
NM_001127222.2(CACNA1A):c.880C>T (p.Pro294Ser)
|
|
|
NM_001127222.2(CACNA1A):c.885C>A (p.Asn295Lys)
|
|
|
NM_001127222.2(CACNA1A):c.885C>G (p.Asn295Lys)
|
|
|
NM_001127222.2(CACNA1A):c.889G>A (p.Gly297Arg)
|
rs1168625480
|
|
NM_001127222.2(CACNA1A):c.901T>C (p.Phe301Leu)
|
rs1599276954
|
|
NM_001127222.2(CACNA1A):c.904G>C (p.Asp302His)
|
rs863224852
|
|
NM_001127222.2(CACNA1A):c.905A>G (p.Asp302Gly)
|
rs2059067761
|
|
NM_001127222.2(CACNA1A):c.913C>T (p.Leu305=)
|
rs1599276914
|
|
NM_001127222.2(CACNA1A):c.920C>T (p.Ala307Val)
|
rs1599276891
|
|
NM_001127222.2(CACNA1A):c.922G>C (p.Val308Leu)
|
rs778912392
|
|
NM_001127222.2(CACNA1A):c.967CTC[1] (p.Leu324del)
|
|
|
NM_001127222.2(CACNA1A):c.976A>G (p.Asn326Asp)
|
|
|