NM_001127222.2(CACNA1A):c.6656A>C (p.His2219Pro)
|
rs772789381
|
0.00055
|
NM_001127222.2(CACNA1A):c.3822C>T (p.Asn1274=)
|
rs201230929
|
0.00021
|
NM_001127222.2(CACNA1A):c.2104+6C>T
|
rs372970603
|
0.00009
|
NM_001127222.2(CACNA1A):c.6044G>A (p.Gly2015Glu)
|
rs772988279
|
0.00009
|
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.3048C>G (p.Asp1016Glu)
|
rs773821155
|
0.00007
|
NM_001127222.2(CACNA1A):c.6190-3C>A
|
rs368480650
|
0.00006
|
NM_001127222.2(CACNA1A):c.1306G>A (p.Glu436Lys)
|
rs759782636
|
0.00004
|
NM_001127222.2(CACNA1A):c.1627C>T (p.Arg543Trp)
|
rs1349147232
|
0.00004
|
NM_001127222.2(CACNA1A):c.2982_2987dup (p.Gly995_Pro996dup)
|
rs995883431
|
0.00004
|
NM_001127222.2(CACNA1A):c.4292G>A (p.Arg1431Gln)
|
rs369440853
|
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.5401-3C>T
|
rs375947967
|
0.00004
|
NM_001127222.2(CACNA1A):c.6572C>T (p.Pro2191Leu)
|
rs377294817
|
0.00004
|
NM_001127222.2(CACNA1A):c.6601C>T (p.Arg2201Trp)
|
rs1032588483
|
0.00004
|
NM_001127222.2(CACNA1A):c.2263A>G (p.Asn755Asp)
|
rs762466161
|
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.4411G>A (p.Ala1471Thr)
|
rs1187916307
|
0.00003
|
NM_001127222.2(CACNA1A):c.4609G>A (p.Ala1537Thr)
|
rs773209223
|
0.00003
|
NM_001127222.2(CACNA1A):c.5400+3G>A
|
rs1034627495
|
0.00003
|
NM_001127222.2(CACNA1A):c.5453G>A (p.Arg1818Gln)
|
rs745900417
|
0.00003
|
NM_001127222.2(CACNA1A):c.5932G>A (p.Glu1978Lys)
|
rs1266642291
|
0.00003
|
NM_001127222.2(CACNA1A):c.6083C>G (p.Pro2028Arg)
|
rs370345937
|
0.00003
|
NM_001127222.2(CACNA1A):c.6193G>A (p.Val2065Met)
|
rs776203885
|
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.6669C>A (p.Pro2223=)
|
rs2304094
|
0.00003
|
NM_001127222.2(CACNA1A):c.745A>G (p.Met249Val)
|
rs1005732031
|
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.1394C>T (p.Ser465Leu)
|
rs544363291
|
0.00002
|
NM_001127222.2(CACNA1A):c.1438C>T (p.Arg480Cys)
|
rs1189054127
|
0.00002
|
NM_001127222.2(CACNA1A):c.29C>T (p.Ala10Val)
|
rs952757731
|
0.00002
|
NM_001127222.2(CACNA1A):c.3142C>T (p.Arg1048Trp)
|
rs753402026
|
0.00002
|
NM_001127222.2(CACNA1A):c.3526C>T (p.Pro1176Ser)
|
rs1458640910
|
0.00002
|
NM_001127222.2(CACNA1A):c.4089+3G>A
|
rs781595676
|
0.00002
|
NM_001127222.2(CACNA1A):c.5521G>A (p.Ala1841Thr)
|
rs753229469
|
0.00002
|
NM_001127222.2(CACNA1A):c.5758G>A (p.Ala1920Thr)
|
rs766012999
|
0.00002
|
NM_001127222.2(CACNA1A):c.6220G>A (p.Gly2074Ser)
|
rs376910068
|
0.00002
|
NM_001127222.2(CACNA1A):c.6234C>T (p.Ser2078=)
|
rs758320697
|
0.00002
|
NM_001127222.2(CACNA1A):c.632G>A (p.Ser211Asn)
|
rs1085307866
|
0.00002
|
NM_001127222.2(CACNA1A):c.6331A>G (p.Asn2111Asp)
|
rs1162464868
|
0.00002
|
NM_001127222.2(CACNA1A):c.6460C>T (p.Arg2154Trp)
|
rs1374160355
|
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.6653A>C (p.His2218Pro)
|
rs1353109044
|
0.00002
|
NM_001127221.2(CACNA1A):c.5532C>T (p.Cys1844=)
|
rs765557914
|
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.1189T>G (p.Ser397Ala)
|
rs745753973
|
0.00001
|
NM_001127222.2(CACNA1A):c.1213G>A (p.Ala405Thr)
|
rs121908245
|
0.00001
|
NM_001127222.2(CACNA1A):c.1231G>A (p.Gly411Arg)
|
rs1448345243
|
0.00001
|
NM_001127222.2(CACNA1A):c.1261C>T (p.Arg421Trp)
|
rs1208991974
|
0.00001
|
NM_001127222.2(CACNA1A):c.1291G>A (p.Asp431Asn)
|
rs1600346973
|
0.00001
|
NM_001127222.2(CACNA1A):c.1303C>T (p.Pro435Ser)
|
rs1426869372
|
0.00001
|
NM_001127222.2(CACNA1A):c.1333A>G (p.Ile445Val)
|
rs1188726884
|
0.00001
|
NM_001127222.2(CACNA1A):c.1377T>G (p.Ser459Arg)
|
rs769335170
|
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.1441C>T (p.Arg481Cys)
|
rs377011125
|
0.00001
|
NM_001127222.2(CACNA1A):c.1559A>G (p.Tyr520Cys)
|
rs886039322
|
0.00001
|
NM_001127222.2(CACNA1A):c.1611G>T (p.Met537Ile)
|
rs752572390
|
0.00001
|
NM_001127222.2(CACNA1A):c.1676T>C (p.Ile559Thr)
|
rs767207007
|
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.1906G>A (p.Gly636Ser)
|
rs943419160
|
0.00001
|
NM_001127222.2(CACNA1A):c.2062G>T (p.Val688Leu)
|
rs762530372
|
0.00001
|
NM_001127222.2(CACNA1A):c.2072T>C (p.Ile691Thr)
|
rs775081414
|
0.00001
|
NM_001127222.2(CACNA1A):c.2155G>A (p.Ala719Thr)
|
rs1201483107
|
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.2287C>A (p.Gln763Lys)
|
rs2057741441
|
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.2491C>T (p.Arg831Cys)
|
rs1464680327
|
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.2612C>A (p.Pro871His)
|
rs1178583020
|
0.00001
|
NM_001127222.2(CACNA1A):c.2620T>G (p.Ser874Ala)
|
rs751675055
|
0.00001
|
NM_001127222.2(CACNA1A):c.2624C>T (p.Ala875Val)
|
rs1309338929
|
0.00001
|
NM_001127222.2(CACNA1A):c.2638C>T (p.Arg880Trp)
|
rs1408152396
|
0.00001
|
NM_001127222.2(CACNA1A):c.2669A>G (p.Glu890Gly)
|
rs2057731758
|
0.00001
|
NM_001127222.2(CACNA1A):c.26C>T (p.Pro9Leu)
|
rs1487101039
|
0.00001
|
NM_001127222.2(CACNA1A):c.2717G>A (p.Arg906Gln)
|
rs776495488
|
0.00001
|
NM_001127222.2(CACNA1A):c.2774C>T (p.Ala925Val)
|
rs765345767
|
0.00001
|
NM_001127222.2(CACNA1A):c.2797G>A (p.Val933Met)
|
rs767187794
|
0.00001
|
NM_001127222.2(CACNA1A):c.2818A>G (p.Arg940Gly)
|
rs778220824
|
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.2842C>T (p.Arg948Cys)
|
rs16978975
|
0.00001
|
NM_001127222.2(CACNA1A):c.2852C>T (p.Ala951Val)
|
rs1442995931
|
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.2932C>T (p.Arg978Trp)
|
rs1361244265
|
0.00001
|
NM_001127222.2(CACNA1A):c.294-4A>G
|
rs1400044284
|
0.00001
|
NM_001127222.2(CACNA1A):c.2971G>A (p.Gly991Ser)
|
rs2057722310
|
0.00001
|
NM_001127222.2(CACNA1A):c.2972G>T (p.Gly991Val)
|
rs2057722221
|
0.00001
|
NM_001127222.2(CACNA1A):c.3002G>C (p.Arg1001Pro)
|
rs1424294725
|
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.3170A>C (p.Gln1057Pro)
|
rs1273138619
|
0.00001
|
NM_001127222.2(CACNA1A):c.3262G>A (p.Ala1088Thr)
|
rs371820430
|
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.3479C>T (p.Ala1160Val)
|
rs766027931
|
0.00001
|
NM_001127222.2(CACNA1A):c.3481A>G (p.Arg1161Gly)
|
rs760265407
|
0.00001
|
NM_001127222.2(CACNA1A):c.3515C>G (p.Pro1172Arg)
|
rs16028
|
0.00001
|
NM_001127222.2(CACNA1A):c.3542C>G (p.Thr1181Ser)
|
rs1250790986
|
0.00001
|
NM_001127222.2(CACNA1A):c.3629G>A (p.Gly1210Glu)
|
rs763558455
|
0.00001
|
NM_001127222.2(CACNA1A):c.3650T>A (p.Met1217Lys)
|
rs761983146
|
0.00001
|
NM_001127222.2(CACNA1A):c.3656C>T (p.Pro1219Leu)
|
rs573365997
|
0.00001
|
NM_001127222.2(CACNA1A):c.3715A>G (p.Ile1239Val)
|
rs375903481
|
0.00001
|
NM_001127222.2(CACNA1A):c.37G>A (p.Gly13Arg)
|
rs1202097056
|
0.00001
|
NM_001127222.2(CACNA1A):c.3803C>T (p.Pro1268Leu)
|
rs1057522815
|
0.00001
|
NM_001127222.2(CACNA1A):c.3814C>T (p.Arg1272Trp)
|
rs372970430
|
0.00001
|
NM_001127222.2(CACNA1A):c.3830G>A (p.Arg1277Gln)
|
rs372344357
|
0.00001
|
NM_001127222.2(CACNA1A):c.399+3G>A
|
rs1275496281
|
0.00001
|
NM_001127222.2(CACNA1A):c.4462A>T (p.Ile1488Phe)
|
rs2056601798
|
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.4601T>C (p.Ile1534Thr)
|
rs1004488897
|
0.00001
|
NM_001127222.2(CACNA1A):c.4618G>A (p.Ala1540Thr)
|
rs761579946
|
0.00001
|
NM_001127222.2(CACNA1A):c.4670G>A (p.Arg1557His)
|
rs755172189
|
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.4850T>C (p.Met1617Thr)
|
rs1469756019
|
0.00001
|
NM_001127222.2(CACNA1A):c.4866+6T>A
|
rs757178835
|
0.00001
|
NM_001127222.2(CACNA1A):c.4876C>T (p.Arg1626Cys)
|
rs747020168
|
0.00001
|
NM_001127222.2(CACNA1A):c.4877G>A (p.Arg1626His)
|
rs777769751
|
0.00001
|
NM_001127222.2(CACNA1A):c.4931T>C (p.Ile1644Thr)
|
rs2056194193
|
0.00001
|
NM_001127222.2(CACNA1A):c.5134-3C>T
|
rs576141199
|
0.00001
|
NM_001127222.2(CACNA1A):c.5174G>A (p.Ser1725Asn)
|
rs766254024
|
0.00001
|
NM_001127222.2(CACNA1A):c.5200G>A (p.Glu1734Lys)
|
rs1064795744
|
0.00001
|
NM_001127222.2(CACNA1A):c.536C>T (p.Thr179Met)
|
rs773461333
|
0.00001
|
NM_001127222.2(CACNA1A):c.5626-3T>C
|
rs2055372579
|
0.00001
|
NM_001127222.2(CACNA1A):c.5635C>T (p.Arg1879Trp)
|
rs746460335
|
0.00001
|
NM_001127222.2(CACNA1A):c.5734G>A (p.Gly1912Arg)
|
rs966699696
|
0.00001
|
NM_001127222.2(CACNA1A):c.574C>T (p.Arg192Trp)
|
rs1057518779
|
0.00001
|
NM_001127222.2(CACNA1A):c.578C>T (p.Thr193Met)
|
rs1365721398
|
0.00001
|
NM_001127222.2(CACNA1A):c.5801C>G (p.Ser1934Cys)
|
rs375365071
|
0.00001
|
NM_001127222.2(CACNA1A):c.5843C>T (p.Thr1948Met)
|
rs748279762
|
0.00001
|
NM_001127222.2(CACNA1A):c.5854G>A (p.Val1952Met)
|
rs749251058
|
0.00001
|
NM_001127222.2(CACNA1A):c.5966G>A (p.Arg1989His)
|
rs1178337230
|
0.00001
|
NM_001127222.2(CACNA1A):c.5999G>C (p.Gly2000Ala)
|
rs1303685302
|
0.00001
|
NM_001127222.2(CACNA1A):c.6005G>A (p.Gly2002Asp)
|
rs1402384624
|
0.00001
|
NM_001127222.2(CACNA1A):c.6017T>G (p.Leu2006Arg)
|
rs759624463
|
0.00001
|
NM_001127222.2(CACNA1A):c.6050T>C (p.Leu2017Pro)
|
rs774375692
|
0.00001
|
NM_001127222.2(CACNA1A):c.6055G>T (p.Ala2019Ser)
|
rs1393616835
|
0.00001
|
NM_001127222.2(CACNA1A):c.6128G>A (p.Gly2043Asp)
|
rs765421252
|
0.00001
|
NM_001127222.2(CACNA1A):c.6190-8C>G
|
rs762766173
|
0.00001
|
NM_001127222.2(CACNA1A):c.6211G>A (p.Gly2071Ser)
|
rs370514102
|
0.00001
|
NM_001127222.2(CACNA1A):c.6217G>A (p.Asp2073Asn)
|
rs1057524336
|
0.00001
|
NM_001127222.2(CACNA1A):c.6241T>C (p.Tyr2081His)
|
rs1174830824
|
0.00001
|
NM_001127222.2(CACNA1A):c.6262G>A (p.Gly2088Ser)
|
rs1259126760
|
0.00001
|
NM_001127222.2(CACNA1A):c.6281C>T (p.Pro2094Leu)
|
rs769128653
|
0.00001
|
NM_001127222.2(CACNA1A):c.6304-3C>T
|
rs1354563230
|
0.00001
|
NM_001127222.2(CACNA1A):c.6313G>A (p.Gly2105Ser)
|
rs1376625416
|
0.00001
|
NM_001127222.2(CACNA1A):c.6326G>A (p.Gly2109Glu)
|
rs868808043
|
0.00001
|
NM_001127222.2(CACNA1A):c.636A>G (p.Leu212=)
|
rs765072424
|
0.00001
|
NM_001127222.2(CACNA1A):c.6401G>A (p.Arg2134His)
|
rs749172043
|
0.00001
|
NM_001127222.2(CACNA1A):c.6436G>A (p.Glu2146Lys)
|
rs371984902
|
0.00001
|
NM_001127222.2(CACNA1A):c.6444C>A (p.Asn2148Lys)
|
rs780779363
|
0.00001
|
NM_001127222.2(CACNA1A):c.6456C>A (p.His2152Gln)
|
rs759949928
|
0.00001
|
NM_001127222.2(CACNA1A):c.6458A>G (p.Gln2153Arg)
|
rs1242460645
|
0.00001
|
NM_001127222.2(CACNA1A):c.6493C>T (p.Arg2165Cys)
|
rs746582303
|
0.00001
|
NM_001127222.2(CACNA1A):c.6526+6C>T
|
rs1366998583
|
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.6595C>T (p.Arg2199Trp)
|
rs1477386827
|
0.00001
|
NM_001127222.2(CACNA1A):c.6596G>A (p.Arg2199Gln)
|
rs1326871701
|
0.00001
|
NM_001127222.2(CACNA1A):c.6608A>G (p.Lys2203Arg)
|
rs1057521770
|
0.00001
|
NM_001127222.2(CACNA1A):c.6617A>G (p.Lys2206Arg)
|
rs1444251671
|
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.6685G>A (p.Ala2229Thr)
|
rs2054683125
|
0.00001
|
NM_001127222.2(CACNA1A):c.761C>A (p.Thr254Asn)
|
rs1599292361
|
0.00001
|
NM_001127222.2(CACNA1A):c.7C>T (p.Arg3Cys)
|
rs1326606155
|
0.00001
|
NM_001127222.2(CACNA1A):c.821C>T (p.Thr274Ile)
|
rs1250942113
|
0.00001
|
NM_001127222.2(CACNA1A):c.839C>T (p.Thr280Ile)
|
rs1195270312
|
0.00001
|
NM_001127222.2(CACNA1A):c.848A>G (p.Asn283Ser)
|
rs1212952550
|
0.00001
|
NC_000019.9:g.(?_13316256)_(13618274_?)dup
|
|
|
NC_000019.9:g.(?_13318860)_(13321486_?)dup
|
|
|
NC_000019.9:g.(?_13318860)_(13325442_?)dup
|
|
|
NC_000019.9:g.(?_13318860)_(13363935_?)dup
|
|
|
NC_000019.9:g.(?_13355976)_(13356099_?)del
|
|
|
NC_000019.9:g.(?_13363785)_(13363935_?)del
|
|
|
NC_000019.9:g.(?_13372244)_(13373667_?)dup
|
|
|
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.5546A>T (p.Tyr1849Phe)
|
rs1568440462
|
|
NM_001127221.2(CACNA1A):c.5551G>T (p.Asp1851Tyr)
|
|
|
NM_001127221.2(CACNA1A):c.5552A>G (p.Asp1851Gly)
|
rs2055563143
|
|
NM_001127221.2(CACNA1A):c.5554A>G (p.Met1852Val)
|
rs2144616837
|
|
NM_001127221.2(CACNA1A):c.5560A>G (p.Ser1854Gly)
|
|
|
NM_001127221.2(CACNA1A):c.5569C>G (p.Arg1857Gly)
|
|
|
NM_001127221.2(CACNA1A):c.5570G>A (p.Arg1857Gln)
|
rs1246077018
|
|
NM_001127221.2(CACNA1A):c.5575A>G (p.Ile1859Val)
|
rs1432354078
|
|
NM_001127221.2(CACNA1A):c.5581C>A (p.Pro1861Thr)
|
|
|
NM_001127221.2(CACNA1A):c.5582C>T (p.Pro1861Leu)
|
|
|
NM_001127221.2(CACNA1A):c.5590G>A (p.Gly1864Ser)
|
rs1001063428
|
|
NM_001127221.2(CACNA1A):c.5596G>A (p.Gly1866Ser)
|
rs2144616611
|
|
NM_001127221.2(CACNA1A):c.5609C>T (p.Pro1870Leu)
|
|
|
NM_001127221.2(CACNA1A):c.5611C>T (p.His1871Tyr)
|
rs2055560659
|
|
NM_001127221.2(CACNA1A):c.5615G>C (p.Arg1872Thr)
|
|
|
NM_001127221.2(CACNA1A):c.5620G>A (p.Ala1874Thr)
|
rs2055560379
|
|
NM_001127221.2(CACNA1A):c.6659_6660delinsGC (p.His2220Arg)
|
rs1085307607
|
|
NM_001127222.2(CACNA1A):c.100G>C (p.Gly34Arg)
|
|
|
NM_001127222.2(CACNA1A):c.101G>A (p.Gly34Glu)
|
|
|
NM_001127222.2(CACNA1A):c.1105C>T (p.Arg369Trp)
|
rs1057524457
|
|
NM_001127222.2(CACNA1A):c.110G>A (p.Arg37Gln)
|
|
|
NM_001127222.2(CACNA1A):c.1118G>A (p.Arg373Gln)
|
rs2145132803
|
|
NM_001127222.2(CACNA1A):c.1120C>T (p.Arg374Trp)
|
|
|
NM_001127222.2(CACNA1A):c.1139G>A (p.Arg380Lys)
|
|
|
NM_001127222.2(CACNA1A):c.1151A>G (p.Gln384Arg)
|
rs2058521134
|
|
NM_001127222.2(CACNA1A):c.1154T>C (p.Ile385Thr)
|
|
|
NM_001127222.2(CACNA1A):c.1159C>T (p.Arg387Cys)
|
|
|
NM_001127222.2(CACNA1A):c.1166T>C (p.Leu389Pro)
|
rs2058520816
|
|
NM_001127222.2(CACNA1A):c.1170T>A (p.Asn390Lys)
|
rs768768744
|
|
NM_001127222.2(CACNA1A):c.1197A>T (p.Ala399=)
|
|
|
NM_001127222.2(CACNA1A):c.1198+5G>A
|
rs1568544895
|
|
NM_001127222.2(CACNA1A):c.1200A>G (p.Glu400=)
|
rs2145126158
|
|
NM_001127222.2(CACNA1A):c.1216G>A (p.Glu406Lys)
|
|
|
NM_001127222.2(CACNA1A):c.1220A>C (p.Asp407Ala)
|
|
|
NM_001127222.2(CACNA1A):c.1220A>G (p.Asp407Gly)
|
rs2058491087
|
|
NM_001127222.2(CACNA1A):c.1231G>T (p.Gly411Trp)
|
rs1448345243
|
|
NM_001127222.2(CACNA1A):c.1242G>T (p.Arg414Ser)
|
rs763099796
|
|
NM_001127222.2(CACNA1A):c.1246C>T (p.Pro416Ser)
|
rs371138043
|
|
NM_001127222.2(CACNA1A):c.1255+3A>G
|
|
|
NM_001127222.2(CACNA1A):c.1256-6T>C
|
|
|
NM_001127222.2(CACNA1A):c.1277A>G (p.Lys426Arg)
|
rs1225290298
|
|
NM_001127222.2(CACNA1A):c.1282A>T (p.Ser428Cys)
|
|
|
NM_001127222.2(CACNA1A):c.1322_1324del (p.Gln441del)
|
|
|
NM_001127222.2(CACNA1A):c.1337C>T (p.Ala446Val)
|
|
|
NM_001127222.2(CACNA1A):c.1345+4A>G
|
|
|
NM_001127222.2(CACNA1A):c.1345G>C (p.Gly449Arg)
|
rs1194605924
|
|
NM_001127222.2(CACNA1A):c.1370T>A (p.Ile457Asn)
|
rs768383869
|
|
NM_001127222.2(CACNA1A):c.1373A>T (p.Lys458Ile)
|
|
|
NM_001127222.2(CACNA1A):c.1379C>T (p.Ala460Val)
|
|
|
NM_001127222.2(CACNA1A):c.1387G>A (p.Glu463Lys)
|
|
|
NM_001127222.2(CACNA1A):c.1397C>T (p.Thr466Ile)
|
|
|
NM_001127222.2(CACNA1A):c.1402T>C (p.Phe468Leu)
|
|
|
NM_001127222.2(CACNA1A):c.140T>A (p.Met47Lys)
|
|
|
NM_001127222.2(CACNA1A):c.1413G>C (p.Lys471Asn)
|
rs369920914
|
|
NM_001127222.2(CACNA1A):c.1418G>A (p.Arg473Lys)
|
rs1401413921
|
|
NM_001127222.2(CACNA1A):c.1426C>T (p.Arg476Cys)
|
rs2145051308
|
|
NM_001127222.2(CACNA1A):c.1435A>G (p.Ile479Val)
|
|
|
NM_001127222.2(CACNA1A):c.1442G>T (p.Arg481Leu)
|
rs763944721
|
|
NM_001127222.2(CACNA1A):c.1444A>G (p.Met482Val)
|
rs1555762900
|
|
NM_001127222.2(CACNA1A):c.1448T>A (p.Val483Asp)
|
|
|
NM_001127222.2(CACNA1A):c.1471A>C (p.Thr491Pro)
|
|
|
NM_001127222.2(CACNA1A):c.1480A>G (p.Ser494Gly)
|
|
|
NM_001127222.2(CACNA1A):c.1534G>C (p.Glu512Gln)
|
rs375210532
|
|
NM_001127222.2(CACNA1A):c.1547A>C (p.Asp516Ala)
|
|
|
NM_001127222.2(CACNA1A):c.157G>A (p.Ala53Thr)
|
|
|
NM_001127222.2(CACNA1A):c.1585T>C (p.Phe529Leu)
|
rs2058058208
|
|
NM_001127222.2(CACNA1A):c.1588A>G (p.Met530Val)
|
rs374764234
|
|
NM_001127222.2(CACNA1A):c.1623G>T (p.Gly541=)
|
rs375628894
|
|
NM_001127222.2(CACNA1A):c.1624A>T (p.Thr542Ser)
|
|
|
NM_001127222.2(CACNA1A):c.1625C>T (p.Thr542Met)
|
|
|
NM_001127222.2(CACNA1A):c.1628G>A (p.Arg543Gln)
|
|
|
NM_001127222.2(CACNA1A):c.1663T>C (p.Cys555Arg)
|
rs1600303388
|
|
NM_001127222.2(CACNA1A):c.1668+3A>G
|
|
|
NM_001127222.2(CACNA1A):c.1669-3T>C
|
rs750090822
|
|
NM_001127222.2(CACNA1A):c.1669G>C (p.Val557Leu)
|
|
|
NM_001127222.2(CACNA1A):c.167C>G (p.Ala56Gly)
|
|
|
NM_001127222.2(CACNA1A):c.1690G>A (p.Glu564Lys)
|
rs1057519099
|
|
NM_001127222.2(CACNA1A):c.1697T>G (p.Ile566Ser)
|
|
|
NM_001127222.2(CACNA1A):c.169C>T (p.Arg57Trp)
|
rs1982997781
|
|
NM_001127222.2(CACNA1A):c.1706T>C (p.Val569Ala)
|
rs2145005688
|
|
NM_001127222.2(CACNA1A):c.170G>A (p.Arg57Gln)
|
|
|
NM_001127222.2(CACNA1A):c.1735A>G (p.Ser579Gly)
|
rs2145005615
|
|
NM_001127222.2(CACNA1A):c.1748C>T (p.Ala583Val)
|
rs2145005553
|
|
NM_001127222.2(CACNA1A):c.174_176del (p.Met59del)
|
|
|
NM_001127222.2(CACNA1A):c.1781+3A>C
|
|
|
NM_001127222.2(CACNA1A):c.1781A>C (p.Lys594Thr)
|
rs2145005448
|
|
NM_001127222.2(CACNA1A):c.1805T>C (p.Leu602Pro)
|
rs2057948232
|
|
NM_001127222.2(CACNA1A):c.1819C>T (p.Leu607Phe)
|
rs2057947991
|
|
NM_001127222.2(CACNA1A):c.1830G>A (p.Met610Ile)
|
rs2145004244
|
|
NM_001127222.2(CACNA1A):c.1843A>C (p.Ser615Arg)
|
rs2057947681
|
|
NM_001127222.2(CACNA1A):c.1857_1859dup (p.Leu620_Phe621insLeu)
|
|
|
NM_001127222.2(CACNA1A):c.1881C>G (p.Phe627Leu)
|
|
|
NM_001127222.2(CACNA1A):c.1883C>T (p.Ala628Val)
|
rs1600292507
|
|
NM_001127222.2(CACNA1A):c.1910G>T (p.Gly637Val)
|
rs121908246
|
|
NM_001127222.2(CACNA1A):c.191C>T (p.Pro64Leu)
|
rs2145192387
|
|
NM_001127222.2(CACNA1A):c.1940C>T (p.Pro647Leu)
|
rs2057937902
|
|
NM_001127222.2(CACNA1A):c.1951G>A (p.Asp651Asn)
|
|
|
NM_001127222.2(CACNA1A):c.1969A>G (p.Ile657Val)
|
rs375173544
|
|
NM_001127222.2(CACNA1A):c.1973T>A (p.Met658Lys)
|
rs2145002206
|
|
NM_001127222.2(CACNA1A):c.1975A>G (p.Thr659Ala)
|
rs2145002197
|
|
NM_001127222.2(CACNA1A):c.1978G>A (p.Val660Met)
|
rs2145002166
|
|
NM_001127222.2(CACNA1A):c.1978_1980del (p.Val660del)
|
rs2057937382
|
|
NM_001127222.2(CACNA1A):c.1986+6G>A
|
rs1791823785
|
|
NM_001127222.2(CACNA1A):c.1991T>C (p.Leu664Pro)
|
|
|
NM_001127222.2(CACNA1A):c.199G>A (p.Val67Ile)
|
|
|
NM_001127222.2(CACNA1A):c.19G>A (p.Glu7Lys)
|
|
|
NM_001127222.2(CACNA1A):c.2003A>T (p.Asp668Val)
|
|
|
NM_001127222.2(CACNA1A):c.2011G>A (p.Glu671Lys)
|
rs1434942721
|
|
NM_001127222.2(CACNA1A):c.2023G>A (p.Asp675Asn)
|
rs906669300
|
|
NM_001127222.2(CACNA1A):c.2040G>C (p.Gln680His)
|
|
|
NM_001127222.2(CACNA1A):c.2047G>A (p.Val683Met)
|
|
|
NM_001127222.2(CACNA1A):c.2056G>A (p.Gly686Ser)
|
rs1064795643
|
|
NM_001127222.2(CACNA1A):c.2075A>G (p.Tyr692Cys)
|
rs2057841267
|
|
NM_001127222.2(CACNA1A):c.2088G>A (p.Leu696=)
|
rs908321451
|
|
NM_001127222.2(CACNA1A):c.2105-9C>G
|
rs1392079452
|
|
NM_001127222.2(CACNA1A):c.2105-9C>T
|
|
|
NM_001127222.2(CACNA1A):c.2105A>T (p.Tyr702Phe)
|
rs2057837052
|
|
NM_001127222.2(CACNA1A):c.2107A>T (p.Thr703Ser)
|
rs1600283133
|
|
NM_001127222.2(CACNA1A):c.2118T>G (p.Asn706Lys)
|
rs2057836849
|
|
NM_001127222.2(CACNA1A):c.2123T>C (p.Phe708Ser)
|
rs2057836815
|
|
NM_001127222.2(CACNA1A):c.2127G>T (p.Leu709Phe)
|
rs886041654
|
|
NM_001127222.2(CACNA1A):c.2133C>A (p.Ile711=)
|
rs764839814
|
|
NM_001127222.2(CACNA1A):c.2133C>G (p.Ile711Met)
|
rs764839814
|
|
NM_001127222.2(CACNA1A):c.2141A>G (p.Asp714Gly)
|
rs2057836063
|
|
NM_001127222.2(CACNA1A):c.2149G>A (p.Ala717Thr)
|
rs2144979185
|
|
NM_001127222.2(CACNA1A):c.2188G>C (p.Glu730Gln)
|
|
|
NM_001127222.2(CACNA1A):c.2210T>C (p.Leu737Pro)
|
rs2057767797
|
|
NM_001127222.2(CACNA1A):c.2237C>A (p.Ala746Glu)
|
|
|
NM_001127222.2(CACNA1A):c.2245A>G (p.Ser749Gly)
|
rs1248327304
|
|
NM_001127222.2(CACNA1A):c.2255C>A (p.Ser752Tyr)
|
rs535900273
|
|
NM_001127222.2(CACNA1A):c.225C>G (p.Asn75Lys)
|
rs1982991598
|
|
NM_001127222.2(CACNA1A):c.2291A>G (p.Gln764Arg)
|
|
|
NM_001127222.2(CACNA1A):c.2299C>A (p.Gln767Lys)
|
|
|
NM_001127222.2(CACNA1A):c.2304G>C (p.Lys768Asn)
|
rs771905201
|
|
NM_001127222.2(CACNA1A):c.2308G>A (p.Ala770Thr)
|
|
|
NM_001127222.2(CACNA1A):c.2309C>T (p.Ala770Val)
|
rs2057740662
|
|
NM_001127222.2(CACNA1A):c.2312A>G (p.Lys771Arg)
|
|
|
NM_001127222.2(CACNA1A):c.2327A>G (p.Gln776Arg)
|
|
|
NM_001127222.2(CACNA1A):c.2335A>T (p.Ser779Cys)
|
rs2144958254
|
|
NM_001127222.2(CACNA1A):c.2336G>A (p.Ser779Asn)
|
|
|
NM_001127222.2(CACNA1A):c.2336G>C (p.Ser779Thr)
|
rs372715067
|
|
NM_001127222.2(CACNA1A):c.2343G>A (p.Met781Ile)
|
|
|
NM_001127222.2(CACNA1A):c.2352G>C (p.Gln784His)
|
rs2144958118
|
|
NM_001127222.2(CACNA1A):c.2355C>G (p.Asn785Lys)
|
rs2144958094
|
|
NM_001127222.2(CACNA1A):c.235T>G (p.Phe79Val)
|
rs2145192231
|
|
NM_001127222.2(CACNA1A):c.235_237del (p.Phe79del)
|
rs1568719711
|
|
NM_001127222.2(CACNA1A):c.2371G>A (p.Glu791Lys)
|
|
|
NM_001127222.2(CACNA1A):c.2374G>T (p.Ala792Ser)
|
rs753248182
|
|
NM_001127222.2(CACNA1A):c.2381A>G (p.Tyr794Cys)
|
|
|
NM_001127222.2(CACNA1A):c.2383A>T (p.Asn795Tyr)
|
|
|
NM_001127222.2(CACNA1A):c.2386G>A (p.Glu796Lys)
|
|
|
NM_001127222.2(CACNA1A):c.2392G>A (p.Asp798Asn)
|
rs1380195853
|
|
NM_001127222.2(CACNA1A):c.2393A>G (p.Asp798Gly)
|
|
|
NM_001127222.2(CACNA1A):c.2401G>A (p.Glu801Lys)
|
|
|
NM_001127222.2(CACNA1A):c.2407T>C (p.Trp803Arg)
|
|
|
NM_001127222.2(CACNA1A):c.2420A>C (p.Tyr807Ser)
|
|
|
NM_001127222.2(CACNA1A):c.2422A>T (p.Thr808Ser)
|
rs772177961
|
|
NM_001127222.2(CACNA1A):c.2426G>A (p.Arg809Gln)
|
rs2057737782
|
|
NM_001127222.2(CACNA1A):c.2430C>A (p.His810Gln)
|
|
|
NM_001127222.2(CACNA1A):c.2435G>T (p.Arg812Leu)
|
rs953797733
|
|
NM_001127222.2(CACNA1A):c.2447A>G (p.Lys816Arg)
|
|
|
NM_001127222.2(CACNA1A):c.2456T>C (p.Leu819Ser)
|
|
|
NM_001127222.2(CACNA1A):c.2465C>T (p.Pro822Leu)
|
|
|
NM_001127222.2(CACNA1A):c.2473G>A (p.Val825Met)
|
rs2144957270
|
|
NM_001127222.2(CACNA1A):c.2487G>C (p.Glu829Asp)
|
rs755434242
|
|
NM_001127222.2(CACNA1A):c.2491C>A (p.Arg831Ser)
|
rs1464680327
|
|
NM_001127222.2(CACNA1A):c.2492G>C (p.Arg831Pro)
|
rs1242675074
|
|
NM_001127222.2(CACNA1A):c.2495A>G (p.Asn832Ser)
|
|
|
NM_001127222.2(CACNA1A):c.2495ACA[2] (p.Asn834del)
|
rs750962335
|
|
NM_001127222.2(CACNA1A):c.2510A>G (p.Lys837Arg)
|
rs1293855171
|
|
NM_001127222.2(CACNA1A):c.2512A>G (p.Ser838Gly)
|
|
|
NM_001127222.2(CACNA1A):c.2513G>T (p.Ser838Ile)
|
rs2057735935
|
|
NM_001127222.2(CACNA1A):c.2518G>C (p.Ala840Pro)
|
|
|
NM_001127222.2(CACNA1A):c.2519C>T (p.Ala840Val)
|
|
|
NM_001127222.2(CACNA1A):c.2531C>T (p.Thr844Ile)
|
|
|
NM_001127222.2(CACNA1A):c.2533G>A (p.Val845Met)
|
rs1168020406
|
|
NM_001127222.2(CACNA1A):c.2560G>C (p.Ala854Pro)
|
|
|
NM_001127222.2(CACNA1A):c.2563G>A (p.Glu855Lys)
|
|
|
NM_001127222.2(CACNA1A):c.2564A>C (p.Glu855Ala)
|
rs2057734618
|
|
NM_001127222.2(CACNA1A):c.2581C>G (p.Gln861Glu)
|
rs1407784551
|
|
NM_001127222.2(CACNA1A):c.2582_2599del (p.Gln861_Asp866del)
|
rs767951499
|
|
NM_001127222.2(CACNA1A):c.2587C>A (p.Arg863Ser)
|
rs777076641
|
|
NM_001127222.2(CACNA1A):c.2587C>G (p.Arg863Gly)
|
|
|
NM_001127222.2(CACNA1A):c.258G>C (p.Val86=)
|
|
|
NM_001127222.2(CACNA1A):c.2599C>A (p.Arg867=)
|
rs2057733890
|
|
NM_001127222.2(CACNA1A):c.25C>T (p.Pro9Ser)
|
|
|
NM_001127222.2(CACNA1A):c.2602G>A (p.Ala868Thr)
|
rs1175516920
|
|
NM_001127222.2(CACNA1A):c.2602G>T (p.Ala868Ser)
|
|
|
NM_001127222.2(CACNA1A):c.2603C>T (p.Ala868Val)
|
|
|
NM_001127222.2(CACNA1A):c.2611C>T (p.Pro871Ser)
|
rs780462531
|
|
NM_001127222.2(CACNA1A):c.2616C>A (p.Ser872Arg)
|
|
|
NM_001127222.2(CACNA1A):c.2619C>T (p.Gly873=)
|
rs761874927
|
|
NM_001127222.2(CACNA1A):c.2621C>T (p.Ser874Leu)
|
rs1057522802
|
|
NM_001127222.2(CACNA1A):c.2630T>A (p.Leu877Gln)
|
|
|
NM_001127222.2(CACNA1A):c.2636C>T (p.Ala879Val)
|
rs2057732636
|
|
NM_001127222.2(CACNA1A):c.2644C>T (p.Pro882Ser)
|
|
|
NM_001127222.2(CACNA1A):c.2654G>A (p.Gly885Glu)
|
|
|
NM_001127222.2(CACNA1A):c.2668G>A (p.Glu890Lys)
|
|
|
NM_001127222.2(CACNA1A):c.2668G>C (p.Glu890Gln)
|
|
|
NM_001127222.2(CACNA1A):c.2672T>A (p.Leu891Gln)
|
rs1171365113
|
|
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.26C>G (p.Pro9Arg)
|
|
|
NM_001127222.2(CACNA1A):c.2704G>T (p.Asp902Tyr)
|
rs2057730771
|
|
NM_001127222.2(CACNA1A):c.2706C>G (p.Asp902Glu)
|
rs1446752227
|
|
NM_001127222.2(CACNA1A):c.2708A>C (p.His903Pro)
|
rs1600272904
|
|
NM_001127222.2(CACNA1A):c.2728C>G (p.Leu910Val)
|
|
|
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.2755_2769dup (p.Glu919_Gly923dup)
|
rs2057728868
|
|
NM_001127222.2(CACNA1A):c.2776G>A (p.Gly926Arg)
|
rs1337217129
|
|
NM_001127222.2(CACNA1A):c.2801A>G (p.His934Arg)
|
|
|
NM_001127222.2(CACNA1A):c.2803C>T (p.Arg935Trp)
|
rs931394162
|
|
NM_001127222.2(CACNA1A):c.2806C>G (p.Gln936Glu)
|
rs1318353774
|
|
NM_001127222.2(CACNA1A):c.2808G>T (p.Gln936His)
|
rs1439845382
|
|
NM_001127222.2(CACNA1A):c.2810G>T (p.Gly937Val)
|
|
|
NM_001127222.2(CACNA1A):c.2813G>A (p.Gly938Asp)
|
rs747413278
|
|
NM_001127222.2(CACNA1A):c.2819G>A (p.Arg940Lys)
|
rs1439559578
|
|
NM_001127222.2(CACNA1A):c.2821G>C (p.Glu941Gln)
|
|
|
NM_001127222.2(CACNA1A):c.2823G>C (p.Glu941Asp)
|
|
|
NM_001127222.2(CACNA1A):c.2830A>T (p.Ser944Cys)
|
|
|
NM_001127222.2(CACNA1A):c.2840C>G (p.Pro947Arg)
|
|
|
NM_001127222.2(CACNA1A):c.2843G>T (p.Arg948Leu)
|
|
|
NM_001127222.2(CACNA1A):c.284C>G (p.Thr95Ser)
|
|
|
NM_001127222.2(CACNA1A):c.2851G>A (p.Ala951Thr)
|
|
|
NM_001127222.2(CACNA1A):c.2856C>A (p.Asp952Glu)
|
rs2057726092
|
|
NM_001127222.2(CACNA1A):c.2857G>A (p.Gly953Arg)
|
rs1057518292
|
|
NM_001127222.2(CACNA1A):c.2858G>A (p.Gly953Glu)
|
|
|
NM_001127222.2(CACNA1A):c.2863C>T (p.His955Tyr)
|
rs2057725846
|
|
NM_001127222.2(CACNA1A):c.2867G>A (p.Arg956Gln)
|
rs551380805
|
|
NM_001127222.2(CACNA1A):c.2867G>C (p.Arg956Pro)
|
|
|
NM_001127222.2(CACNA1A):c.2875C>A (p.Arg959Ser)
|
|
|
NM_001127222.2(CACNA1A):c.2893G>A (p.Gly965Arg)
|
rs1473069840
|
|
NM_001127222.2(CACNA1A):c.2896G>A (p.Glu966Lys)
|
rs747456771
|
|
NM_001127222.2(CACNA1A):c.2896G>C (p.Glu966Gln)
|
|
|
NM_001127222.2(CACNA1A):c.2899_2900delinsTT (p.Glu967Leu)
|
rs2144953620
|
|
NM_001127222.2(CACNA1A):c.2909A>G (p.Glu970Gly)
|
rs1555755916
|
|
NM_001127222.2(CACNA1A):c.2914A>G (p.Lys972Glu)
|
rs2144953504
|
|
NM_001127222.2(CACNA1A):c.2924G>A (p.Arg975Gln)
|
rs748418783
|
|
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.293C>T (p.Pro98Leu)
|
rs2145192098
|
|
NM_001127222.2(CACNA1A):c.294-1C>A
|
rs1568662077
|
|
NM_001127222.2(CACNA1A):c.2941G>A (p.Glu981Lys)
|
|
|
NM_001127222.2(CACNA1A):c.2944G>A (p.Gly982Ser)
|
rs1367737519
|
|
NM_001127222.2(CACNA1A):c.2956G>A (p.Ala986Thr)
|
rs376228771
|
|
NM_001127222.2(CACNA1A):c.2956G>T (p.Ala986Ser)
|
|
|
NM_001127222.2(CACNA1A):c.2957C>T (p.Ala986Val)
|
rs2144953042
|
|
NM_001127222.2(CACNA1A):c.2959C>T (p.Arg987Trp)
|
rs1489702072
|
|
NM_001127222.2(CACNA1A):c.2965G>T (p.Gly989Cys)
|
|
|
NM_001127222.2(CACNA1A):c.2966_2967delinsTT (p.Gly989Val)
|
rs2144952921
|
|
NM_001127222.2(CACNA1A):c.2966_2989del (p.Gly989_Pro996del)
|
rs2144952654
|
|
NM_001127222.2(CACNA1A):c.2968GAGGGC[1] (p.990EG[1])
|
rs764399373
|
|
NM_001127222.2(CACNA1A):c.2974G>C (p.Glu992Gln)
|
rs2057722066
|
|
NM_001127222.2(CACNA1A):c.2982G>C (p.Glu994Asp)
|
rs2144952767
|
|
NM_001127222.2(CACNA1A):c.2983_3000dup (p.Gly995_Glu1000dup)
|
rs2057721057
|
|
NM_001127222.2(CACNA1A):c.2984G>T (p.Gly995Val)
|
rs1002778568
|
|
NM_001127222.2(CACNA1A):c.2987C>G (p.Pro996Arg)
|
rs750356248
|
|
NM_001127222.2(CACNA1A):c.2987C>T (p.Pro996Leu)
|
|
|
NM_001127222.2(CACNA1A):c.2989G>A (p.Asp997Asn)
|
rs2057721376
|
|
NM_001127222.2(CACNA1A):c.2993G>A (p.Gly998Glu)
|
rs2057721231
|
|
NM_001127222.2(CACNA1A):c.2995G>A (p.Gly999Ser)
|
|
|
NM_001127222.2(CACNA1A):c.3000G>T (p.Glu1000Asp)
|
|
|
NM_001127222.2(CACNA1A):c.3002G>T (p.Arg1001Leu)
|
rs1424294725
|
|
NM_001127222.2(CACNA1A):c.3004A>T (p.Arg1002Trp)
|
rs1175036875
|
|
NM_001127222.2(CACNA1A):c.3006_3008del (p.Arg1004del)
|
rs763302316
|
|
NM_001127222.2(CACNA1A):c.3020A>T (p.His1007Leu)
|
|
|
NM_001127222.2(CACNA1A):c.3023G>A (p.Gly1008Asp)
|
|
|
NM_001127222.2(CACNA1A):c.3042G>C (p.Glu1014Asp)
|
rs868354475
|
|
NM_001127222.2(CACNA1A):c.3046G>A (p.Asp1016Asn)
|
rs2057719269
|
|
NM_001127222.2(CACNA1A):c.3049G>A (p.Ala1017Thr)
|
|
|
NM_001127222.2(CACNA1A):c.3053G>A (p.Arg1018Gln)
|
rs762288499
|
|
NM_001127222.2(CACNA1A):c.3067G>A (p.Glu1023Lys)
|
rs1555755809
|
|
NM_001127222.2(CACNA1A):c.3077A>G (p.His1026Arg)
|
rs2057717972
|
|
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.3089+4A>G
|
|
|
NM_001127222.2(CACNA1A):c.3090-3C>T
|
|
|
NM_001127222.2(CACNA1A):c.3093G>C (p.Glu1031Asp)
|
|
|
NM_001127222.2(CACNA1A):c.3100G>A (p.Gly1034Ser)
|
rs1600246766
|
|
NM_001127222.2(CACNA1A):c.3101G>A (p.Gly1034Asp)
|
rs2144889565
|
|
NM_001127222.2(CACNA1A):c.3124C>A (p.Pro1042Thr)
|
rs2057414935
|
|
NM_001127222.2(CACNA1A):c.3129C>A (p.Asn1043Lys)
|
rs1187232740
|
|
NM_001127222.2(CACNA1A):c.3157G>C (p.Asp1053His)
|
rs2144889174
|
|
NM_001127222.2(CACNA1A):c.3164G>C (p.Gly1055Ala)
|
rs1600246526
|
|
NM_001127222.2(CACNA1A):c.3175C>A (p.Pro1059Thr)
|
|
|
NM_001127222.2(CACNA1A):c.3179C>G (p.Pro1060Arg)
|
rs763400188
|
|
NM_001127222.2(CACNA1A):c.3190G>C (p.Asp1064His)
|
|
|
NM_001127222.2(CACNA1A):c.31C>T (p.Arg11Cys)
|
|
|
NM_001127222.2(CACNA1A):c.3213C>A (p.Asn1071Lys)
|
rs1369614864
|
|
NM_001127222.2(CACNA1A):c.323T>C (p.Ile108Thr)
|
|
|
NM_001127222.2(CACNA1A):c.3241C>T (p.Pro1081Ser)
|
rs1467243087
|
|
NM_001127222.2(CACNA1A):c.324C>G (p.Ile108Met)
|
rs2144947382
|
|
NM_001127222.2(CACNA1A):c.3262G>T (p.Ala1088Ser)
|
|
|
NM_001127222.2(CACNA1A):c.3266G>T (p.Gly1089Val)
|
|
|
NM_001127222.2(CACNA1A):c.3307C>T (p.Pro1103Ser)
|
|
|
NM_001127222.2(CACNA1A):c.3310_3315dup (p.Gly1104_Pro1105dup)
|
rs776584949
|
|
NM_001127222.2(CACNA1A):c.3325A>T (p.Ile1109Phe)
|
rs1568495538
|
|
NM_001127222.2(CACNA1A):c.3329C>A (p.Pro1110His)
|
|
|
NM_001127222.2(CACNA1A):c.3334A>G (p.Met1112Val)
|
|
|
NM_001127222.2(CACNA1A):c.3349C>A (p.Gln1117Lys)
|
|
|
NM_001127222.2(CACNA1A):c.3355G>C (p.Ala1119Pro)
|
rs199745070
|
|
NM_001127222.2(CACNA1A):c.337A>T (p.Ile113Phe)
|
|
|
NM_001127222.2(CACNA1A):c.3383C>A (p.Pro1128Gln)
|
rs754208553
|
|
NM_001127222.2(CACNA1A):c.3393_3401dup (p.Ser1132_Pro1134dup)
|
rs770648017
|
|
NM_001127222.2(CACNA1A):c.3395C>T (p.Ser1132Phe)
|
rs2144887797
|
|
NM_001127222.2(CACNA1A):c.3406C>T (p.Pro1136Ser)
|
rs764131315
|
|
NM_001127222.2(CACNA1A):c.3409C>A (p.Pro1137Thr)
|
|
|
NM_001127222.2(CACNA1A):c.3410C>A (p.Pro1137His)
|
rs200333359
|
|
NM_001127222.2(CACNA1A):c.3413A>G (p.Lys1138Arg)
|
rs746555911
|
|
NM_001127222.2(CACNA1A):c.3413A>T (p.Lys1138Met)
|
|
|
NM_001127222.2(CACNA1A):c.3430C>T (p.Leu1144Phe)
|
rs2057405997
|
|
NM_001127222.2(CACNA1A):c.3461C>G (p.Thr1154Ser)
|
|
|
NM_001127222.2(CACNA1A):c.3464A>T (p.Asn1155Ile)
|
rs992828062
|
|
NM_001127222.2(CACNA1A):c.346G>A (p.Ala116Thr)
|
rs778725158
|
|
NM_001127222.2(CACNA1A):c.3473A>C (p.Lys1158Thr)
|
|
|
NM_001127222.2(CACNA1A):c.3478G>A (p.Ala1160Thr)
|
rs1256731049
|
|
NM_001127222.2(CACNA1A):c.3478G>T (p.Ala1160Ser)
|
|
|
NM_001127222.2(CACNA1A):c.3479C>G (p.Ala1160Gly)
|
rs766027931
|
|
NM_001127222.2(CACNA1A):c.3488_3489delinsAA (p.Pro1163Gln)
|
|
|
NM_001127222.2(CACNA1A):c.34T>C (p.Tyr12His)
|
|
|
NM_001127222.2(CACNA1A):c.3515C>T (p.Pro1172Leu)
|
|
|
NM_001127222.2(CACNA1A):c.3526C>A (p.Pro1176Thr)
|
rs1458640910
|
|
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.3533T>C (p.Leu1178Pro)
|
|
|
NM_001127222.2(CACNA1A):c.3542C>T (p.Thr1181Ile)
|
|
|
NM_001127222.2(CACNA1A):c.3545T>C (p.Val1182Ala)
|
|
|
NM_001127222.2(CACNA1A):c.3565G>A (p.Ala1189Thr)
|
rs1034876149
|
|
NM_001127222.2(CACNA1A):c.3584C>T (p.Pro1195Leu)
|
rs1568493631
|
|
NM_001127222.2(CACNA1A):c.3597_3599del (p.Glu1200del)
|
|
|
NM_001127222.2(CACNA1A):c.3598G>A (p.Glu1200Lys)
|
|
|
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.3625C>A (p.Arg1209Ser)
|
rs781026181
|
|
NM_001127222.2(CACNA1A):c.3625C>T (p.Arg1209Cys)
|
rs781026181
|
|
NM_001127222.2(CACNA1A):c.3637G>T (p.Gly1213Cys)
|
|
|
NM_001127222.2(CACNA1A):c.3646C>T (p.Pro1216Ser)
|
|
|
NM_001127222.2(CACNA1A):c.3686C>A (p.Thr1229Asn)
|
|
|
NM_001127222.2(CACNA1A):c.3686C>T (p.Thr1229Ile)
|
|
|
NM_001127222.2(CACNA1A):c.3691C>T (p.Pro1231Ser)
|
|
|
NM_001127222.2(CACNA1A):c.3692C>T (p.Pro1231Leu)
|
|
|
NM_001127222.2(CACNA1A):c.3693-3C>T
|
|
|
NM_001127222.2(CACNA1A):c.3693-4A>G
|
|
|
NM_001127222.2(CACNA1A):c.3693C>G (p.Pro1231=)
|
rs1555751817
|
|
NM_001127222.2(CACNA1A):c.3697C>T (p.Arg1233Cys)
|
rs2057333004
|
|
NM_001127222.2(CACNA1A):c.3701G>C (p.Arg1234Pro)
|
rs373183625
|
|
NM_001127222.2(CACNA1A):c.3742_3744del (p.Cys1248del)
|
|
|
NM_001127222.2(CACNA1A):c.3757A>T (p.Ile1253Phe)
|
rs2144871593
|
|
NM_001127222.2(CACNA1A):c.3764T>C (p.Met1255Thr)
|
rs1085307644
|
|
NM_001127222.2(CACNA1A):c.3765G>A (p.Met1255Ile)
|
rs2144871559
|
|
NM_001127222.2(CACNA1A):c.379A>G (p.Thr127Ala)
|
rs2144947148
|
|
NM_001127222.2(CACNA1A):c.3814C>A (p.Arg1272=)
|
rs372970430
|
|
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.3822+6T>C
|
|
|
NM_001127222.2(CACNA1A):c.3823G>C (p.Val1275Leu)
|
rs995835535
|
|
NM_001127222.2(CACNA1A):c.383C>T (p.Pro128Leu)
|
|
|
NM_001127222.2(CACNA1A):c.3841T>A (p.Tyr1281Asn)
|
rs1184262651
|
|
NM_001127222.2(CACNA1A):c.3844G>C (p.Val1282Leu)
|
|
|
NM_001127222.2(CACNA1A):c.3851C>T (p.Thr1284Ile)
|
rs2057169185
|
|
NM_001127222.2(CACNA1A):c.3853G>A (p.Gly1285Ser)
|
|
|
NM_001127222.2(CACNA1A):c.3873G>A (p.Met1291Ile)
|
rs2144839595
|
|
NM_001127222.2(CACNA1A):c.394C>T (p.Arg132Trp)
|
|
|
NM_001127222.2(CACNA1A):c.395G>A (p.Arg132Gln)
|
|
|
NM_001127222.2(CACNA1A):c.399+4A>G
|
|
|
NM_001127222.2(CACNA1A):c.3998G>A (p.Ser1333Asn)
|
rs2056768399
|
|
NM_001127222.2(CACNA1A):c.399G>C (p.Leu133=)
|
rs2144947082
|
|
NM_001127222.2(CACNA1A):c.4027T>C (p.Ser1343Pro)
|
rs2056768058
|
|
NM_001127222.2(CACNA1A):c.4028C>T (p.Ser1343Phe)
|
|
|
NM_001127222.2(CACNA1A):c.4061A>C (p.Lys1354Thr)
|
|
|
NM_001127222.2(CACNA1A):c.4064C>T (p.Thr1355Ile)
|
rs2056767062
|
|
NM_001127222.2(CACNA1A):c.4078C>T (p.Pro1360Ser)
|
|
|
NM_001127222.2(CACNA1A):c.4087A>G (p.Lys1363Glu)
|
rs2144772824
|
|
NM_001127222.2(CACNA1A):c.4089+3G>T
|
|
|
NM_001127222.2(CACNA1A):c.4089+6A>T
|
|
|
NM_001127222.2(CACNA1A):c.4251A>T (p.Arg1417=)
|
|
|
NM_001127222.2(CACNA1A):c.4322A>T (p.His1441Leu)
|
rs2144758379
|
|
NM_001127222.2(CACNA1A):c.4327G>A (p.Asp1443Asn)
|
rs1443877971
|
|
NM_001127222.2(CACNA1A):c.433T>G (p.Cys145Gly)
|
rs2144936384
|
|
NM_001127222.2(CACNA1A):c.4352C>G (p.Thr1451Ser)
|
|
|
NM_001127222.2(CACNA1A):c.4370C>T (p.Thr1457Met)
|
rs2056673232
|
|
NM_001127222.2(CACNA1A):c.4388+3A>G
|
|
|
NM_001127222.2(CACNA1A):c.4388+6T>C
|
|
|
NM_001127222.2(CACNA1A):c.4390G>A (p.Val1464Ile)
|
rs2144748776
|
|
NM_001127222.2(CACNA1A):c.4447C>T (p.Arg1483Cys)
|
rs2144748587
|
|
NM_001127222.2(CACNA1A):c.4469A>G (p.Tyr1490Cys)
|
rs1064795901
|
|
NM_001127222.2(CACNA1A):c.4471GTC[1] (p.Val1492del)
|
|
|
NM_001127222.2(CACNA1A):c.4526TCA[2] (p.Ile1511del)
|
|
|
NM_001127222.2(CACNA1A):c.4535C>A (p.Thr1512Asn)
|
rs2144748262
|
|
NM_001127222.2(CACNA1A):c.4561A>G (p.Met1521Val)
|
rs2144748158
|
|
NM_001127222.2(CACNA1A):c.4574G>A (p.Ser1525Asn)
|
rs2056600119
|
|
NM_001127222.2(CACNA1A):c.4590+5C>G
|
|
|
NM_001127222.2(CACNA1A):c.4590+6A>G
|
|
|
NM_001127222.2(CACNA1A):c.4592G>A (p.Arg1531Lys)
|
rs2144735318
|
|
NM_001127222.2(CACNA1A):c.4605T>G (p.Asp1535Glu)
|
|
|
NM_001127222.2(CACNA1A):c.4609G>T (p.Ala1537Ser)
|
|
|
NM_001127222.2(CACNA1A):c.4612A>C (p.Ile1538Leu)
|
|
|
NM_001127222.2(CACNA1A):c.4612A>G (p.Ile1538Val)
|
|
|
NM_001127222.2(CACNA1A):c.4634G>A (p.Arg1545Gln)
|
rs775048630
|
|
NM_001127222.2(CACNA1A):c.4634G>T (p.Arg1545Leu)
|
|
|
NM_001127222.2(CACNA1A):c.4636C>T (p.His1546Tyr)
|
rs2144735184
|
|
NM_001127222.2(CACNA1A):c.4639A>G (p.Met1547Val)
|
|
|
NM_001127222.2(CACNA1A):c.4639A>T (p.Met1547Leu)
|
|
|
NM_001127222.2(CACNA1A):c.4654C>G (p.Gln1552Glu)
|
|
|
NM_001127222.2(CACNA1A):c.467G>T (p.Gly156Val)
|
|
|
NM_001127222.2(CACNA1A):c.4683C>G (p.Phe1561Leu)
|
rs377082780
|
|
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.4687G>T (p.Val1563Leu)
|
|
|
NM_001127222.2(CACNA1A):c.4693C>G (p.Pro1565Ala)
|
|
|
NM_001127222.2(CACNA1A):c.470T>C (p.Phe157Ser)
|
|
|
NM_001127222.2(CACNA1A):c.4714A>G (p.Met1572Val)
|
rs2056510928
|
|
NM_001127222.2(CACNA1A):c.4716G>A (p.Met1572Ile)
|
|
|
NM_001127222.2(CACNA1A):c.4720A>G (p.Met1574Val)
|
rs1555743201
|
|
NM_001127222.2(CACNA1A):c.4726G>A (p.Ala1576Thr)
|
rs2056510591
|
|
NM_001127222.2(CACNA1A):c.4738A>G (p.Ile1580Val)
|
|
|
NM_001127222.2(CACNA1A):c.4748TGA[1] (p.Met1584del)
|
|
|
NM_001127222.2(CACNA1A):c.4758C>A (p.Phe1586Leu)
|
rs2056445437
|
|
NM_001127222.2(CACNA1A):c.4792C>T (p.Arg1598Trp)
|
|
|
NM_001127222.2(CACNA1A):c.4804A>G (p.Ile1602Val)
|
rs2056444576
|
|
NM_001127222.2(CACNA1A):c.4805T>C (p.Ile1602Thr)
|
rs2056444494
|
|
NM_001127222.2(CACNA1A):c.4836T>G (p.Cys1612Trp)
|
rs781413708
|
|
NM_001127222.2(CACNA1A):c.4843A>G (p.Lys1615Glu)
|
rs2056443467
|
|
NM_001127222.2(CACNA1A):c.4847T>C (p.Val1616Ala)
|
|
|
NM_001127222.2(CACNA1A):c.4867-6T>G
|
rs2056196120
|
|
NM_001127222.2(CACNA1A):c.4874T>G (p.Phe1625Cys)
|
rs771061659
|
|
NM_001127222.2(CACNA1A):c.488C>T (p.Ser163Phe)
|
rs1555789107
|
|
NM_001127222.2(CACNA1A):c.4899C>G (p.Asp1633Glu)
|
rs2144692015
|
|
NM_001127222.2(CACNA1A):c.4942G>C (p.Glu1648Gln)
|
rs1417421667
|
|
NM_001127222.2(CACNA1A):c.4951-5C>A
|
|
|
NM_001127222.2(CACNA1A):c.4951A>G (p.Asn1651Asp)
|
|
|
NM_001127222.2(CACNA1A):c.4970G>T (p.Ser1657Ile)
|
|
|
NM_001127222.2(CACNA1A):c.4991C>G (p.Ala1664Gly)
|
|
|
NM_001127222.2(CACNA1A):c.4999C>T (p.Leu1667Phe)
|
rs2144649806
|
|
NM_001127222.2(CACNA1A):c.4G>T (p.Ala2Ser)
|
rs2145193160
|
|
NM_001127222.2(CACNA1A):c.5009T>G (p.Leu1670Arg)
|
|
|
NM_001127222.2(CACNA1A):c.5018A>G (p.Gln1673Arg)
|
rs2055850287
|
|
NM_001127222.2(CACNA1A):c.5021G>A (p.Gly1674Asp)
|
rs895744093
|
|
NM_001127222.2(CACNA1A):c.5029A>G (p.Ile1677Val)
|
rs766623973
|
|
NM_001127222.2(CACNA1A):c.502G>A (p.Gly168Ser)
|
rs2144936186
|
|
NM_001127222.2(CACNA1A):c.5051T>C (p.Phe1684Ser)
|
|
|
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.5058G>C (p.Gln1686His)
|
|
|
NM_001127222.2(CACNA1A):c.5068-3C>T
|
|
|
NM_001127222.2(CACNA1A):c.5077T>C (p.Tyr1693His)
|
|
|
NM_001127222.2(CACNA1A):c.5095G>C (p.Ala1699Pro)
|
rs371273055
|
|
NM_001127222.2(CACNA1A):c.50C>G (p.Ser17Cys)
|
rs931963287
|
|
NM_001127222.2(CACNA1A):c.5104T>C (p.Phe1702Leu)
|
rs2055834394
|
|
NM_001127222.2(CACNA1A):c.512T>A (p.Val171Asp)
|
|
|
NM_001127222.2(CACNA1A):c.5133+3G>A
|
|
|
NM_001127222.2(CACNA1A):c.5133+3G>C
|
rs1320790447
|
|
NM_001127222.2(CACNA1A):c.5133+5G>A
|
rs2144647781
|
|
NM_001127222.2(CACNA1A):c.5140G>C (p.Gly1714Arg)
|
|
|
NM_001127222.2(CACNA1A):c.5152A>T (p.Ile1718Phe)
|
|
|
NM_001127222.2(CACNA1A):c.5154C>G (p.Ile1718Met)
|
|
|
NM_001127222.2(CACNA1A):c.5159T>A (p.Val1720Glu)
|
|
|
NM_001127222.2(CACNA1A):c.5165A>G (p.Asp1722Gly)
|
|
|
NM_001127222.2(CACNA1A):c.5167G>A (p.Glu1723Lys)
|
rs931067957
|
|
NM_001127222.2(CACNA1A):c.5182G>A (p.Asp1728Asn)
|
rs1436816057
|
|
NM_001127222.2(CACNA1A):c.5198C>T (p.Thr1733Ile)
|
rs2144646721
|
|
NM_001127222.2(CACNA1A):c.5215C>T (p.Arg1739Trp)
|
rs2144646626
|
|
NM_001127222.2(CACNA1A):c.5216G>A (p.Arg1739Gln)
|
|
|
NM_001127222.2(CACNA1A):c.5236A>G (p.Met1746Val)
|
|
|
NM_001127222.2(CACNA1A):c.5238G>C (p.Met1746Ile)
|
rs1210283621
|
|
NM_001127222.2(CACNA1A):c.523G>A (p.Val175Met)
|
|
|
NM_001127222.2(CACNA1A):c.5248C>A (p.Arg1750=)
|
|
|
NM_001127222.2(CACNA1A):c.5248C>G (p.Arg1750Gly)
|
|
|
NM_001127222.2(CACNA1A):c.5248C>T (p.Arg1750Trp)
|
rs1568446845
|
|
NM_001127222.2(CACNA1A):c.5249G>A (p.Arg1750Gln)
|
rs781588570
|
|
NM_001127222.2(CACNA1A):c.5249G>C (p.Arg1750Pro)
|
|
|
NM_001127222.2(CACNA1A):c.5251A>C (p.Ser1751Arg)
|
|
|
NM_001127222.2(CACNA1A):c.526G>C (p.Val176Leu)
|
rs1057521920
|
|
NM_001127222.2(CACNA1A):c.5328C>G (p.Ile1776Met)
|
|
|
NM_001127222.2(CACNA1A):c.5335C>A (p.Arg1779=)
|
rs2144629622
|
|
NM_001127222.2(CACNA1A):c.5348A>G (p.Asn1783Ser)
|
|
|
NM_001127222.2(CACNA1A):c.5356G>T (p.Ala1786Ser)
|
|
|
NM_001127222.2(CACNA1A):c.5401-13G>A
|
rs2144622540
|
|
NM_001127222.2(CACNA1A):c.5408A>C (p.Asn1803Thr)
|
|
|
NM_001127222.2(CACNA1A):c.5416G>A (p.Val1806Ile)
|
|
|
NM_001127222.2(CACNA1A):c.5439T>G (p.Phe1813Leu)
|
rs1600127242
|
|
NM_001127222.2(CACNA1A):c.5452C>G (p.Arg1818Gly)
|
rs267606696
|
|
NM_001127222.2(CACNA1A):c.5458T>C (p.Ser1820Pro)
|
|
|
NM_001127222.2(CACNA1A):c.5473C>T (p.Pro1825Ser)
|
|
|
NM_001127222.2(CACNA1A):c.5477A>G (p.His1826Arg)
|
rs2055610097
|
|
NM_001127222.2(CACNA1A):c.5484G>A (p.Leu1828=)
|
rs2055609637
|
|
NM_001127222.2(CACNA1A):c.548C>T (p.Ala183Val)
|
|
|
NM_001127222.2(CACNA1A):c.5498G>A (p.Arg1833His)
|
|
|
NM_001127222.2(CACNA1A):c.5498G>C (p.Arg1833Pro)
|
|
|
NM_001127222.2(CACNA1A):c.5506G>A (p.Ala1836Thr)
|
|
|
NM_001127222.2(CACNA1A):c.5509G>A (p.Glu1837Lys)
|
rs1408989522
|
|
NM_001127222.2(CACNA1A):c.5521G>C (p.Ala1841Pro)
|
rs753229469
|
|
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.5638A>C (p.Met1880Leu)
|
|
|
NM_001127222.2(CACNA1A):c.5642_5692del (p.Asp1881_Met1897del)
|
|
|
NM_001127222.2(CACNA1A):c.5653G>A (p.Ala1885Thr)
|
|
|
NM_001127222.2(CACNA1A):c.5690T>G (p.Met1897Arg)
|
rs2144595037
|
|
NM_001127222.2(CACNA1A):c.5695C>G (p.Leu1899Val)
|
rs2055369392
|
|
NM_001127222.2(CACNA1A):c.5698A>G (p.Ile1900Val)
|
|
|
NM_001127222.2(CACNA1A):c.56C>A (p.Ala19Glu)
|
|
|
NM_001127222.2(CACNA1A):c.5700C>G (p.Ile1900Met)
|
|
|
NM_001127222.2(CACNA1A):c.5731G>A (p.Gly1911Arg)
|
rs751603485
|
|
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.5771A>C (p.Lys1924Thr)
|
rs1181667215
|
|
NM_001127222.2(CACNA1A):c.5778G>A (p.Met1926Ile)
|
rs1252683687
|
|
NM_001127222.2(CACNA1A):c.5779A>T (p.Met1927Leu)
|
rs775982911
|
|
NM_001127222.2(CACNA1A):c.5794A>G (p.Asn1932Asp)
|
|
|
NM_001127222.2(CACNA1A):c.5803C>A (p.Gln1935Lys)
|
rs2144537491
|
|
NM_001127222.2(CACNA1A):c.5809A>T (p.Thr1937Ser)
|
|
|
NM_001127222.2(CACNA1A):c.581T>C (p.Leu194Pro)
|
|
|
NM_001127222.2(CACNA1A):c.5839+6A>C
|
rs2144537255
|
|
NM_001127222.2(CACNA1A):c.5840-3C>A
|
|
|
NM_001127222.2(CACNA1A):c.5857G>A (p.Gly1953Arg)
|
rs2144536064
|
|
NM_001127222.2(CACNA1A):c.5861A>G (p.Lys1954Arg)
|
|
|
NM_001127222.2(CACNA1A):c.5869G>A (p.Ala1957Thr)
|
rs1217161285
|
|
NM_001127222.2(CACNA1A):c.5876T>C (p.Met1959Thr)
|
rs763611434
|
|
NM_001127222.2(CACNA1A):c.589G>A (p.Val197Ile)
|
rs1005884911
|
|
NM_001127222.2(CACNA1A):c.5924C>A (p.Ala1975Asp)
|
|
|
NM_001127222.2(CACNA1A):c.5930G>A (p.Arg1977His)
|
rs1057521547
|
|
NM_001127222.2(CACNA1A):c.5940+6C>T
|
rs909499550
|
|
NM_001127222.2(CACNA1A):c.5944C>T (p.Arg1982Trp)
|
|
|
NM_001127222.2(CACNA1A):c.5948C>T (p.Thr1983Ile)
|
rs947850652
|
|
NM_001127222.2(CACNA1A):c.5953C>A (p.Leu1985Ile)
|
|
|
NM_001127222.2(CACNA1A):c.5953C>G (p.Leu1985Val)
|
|
|
NM_001127222.2(CACNA1A):c.5957T>C (p.Met1986Thr)
|
rs2144526659
|
|
NM_001127222.2(CACNA1A):c.596T>C (p.Val199Ala)
|
|
|
NM_001127222.2(CACNA1A):c.5984C>T (p.Pro1995Leu)
|
rs1568424203
|
|
NM_001127222.2(CACNA1A):c.5994A>C (p.Glu1998Asp)
|
rs16045
|
|
NM_001127222.2(CACNA1A):c.5994_5996dup (p.Gly2000dup)
|
rs2054858852
|
|
NM_001127222.2(CACNA1A):c.59C>T (p.Ala20Val)
|
|
|
NM_001127222.2(CACNA1A):c.601C>T (p.Arg201Trp)
|
rs2144559282
|
|
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.6035A>G (p.Asp2012Gly)
|
rs2144526083
|
|
NM_001127222.2(CACNA1A):c.6051-3C>A
|
rs1318280840
|
|
NM_001127222.2(CACNA1A):c.6058C>T (p.His2020Tyr)
|
rs2144525195
|
|
NM_001127222.2(CACNA1A):c.6065G>A (p.Ser2022Asn)
|
rs2144525162
|
|
NM_001127222.2(CACNA1A):c.6067G>C (p.Gly2023Arg)
|
|
|
NM_001127222.2(CACNA1A):c.6067G>T (p.Gly2023Cys)
|
rs574805525
|
|
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.6113T>C (p.Met2038Thr)
|
|
|
NM_001127222.2(CACNA1A):c.611A>G (p.Lys204Arg)
|
rs2144559219
|
|
NM_001127222.2(CACNA1A):c.6137G>T (p.Ser2046Ile)
|
|
|
NM_001127222.2(CACNA1A):c.6149G>T (p.Gly2050Val)
|
rs2054848687
|
|
NM_001127222.2(CACNA1A):c.6158C>A (p.Thr2053Asn)
|
|
|
NM_001127222.2(CACNA1A):c.616G>A (p.Val206Met)
|
rs2144559196
|
|
NM_001127222.2(CACNA1A):c.6172A>G (p.Ser2058Gly)
|
|
|
NM_001127222.2(CACNA1A):c.6173G>C (p.Ser2058Thr)
|
rs1600089299
|
|
NM_001127222.2(CACNA1A):c.6181A>C (p.Asn2061His)
|
rs974724726
|
|
NM_001127222.2(CACNA1A):c.6188A>G (p.Gln2063Arg)
|
|
|
NM_001127222.2(CACNA1A):c.6189+10_6189+65del
|
|
|
NM_001127222.2(CACNA1A):c.6189+3G>A
|
|
|
NM_001127222.2(CACNA1A):c.6189+4C>A
|
rs2054846468
|
|
NM_001127222.2(CACNA1A):c.6189+6T>C
|
|
|
NM_001127222.2(CACNA1A):c.6190-8C>T
|
|
|
NM_001127222.2(CACNA1A):c.6199A>G (p.Met2067Val)
|
|
|
NM_001127222.2(CACNA1A):c.6202C>G (p.Arg2068Gly)
|
rs779221807
|
|
NM_001127222.2(CACNA1A):c.6205G>A (p.Glu2069Lys)
|
rs543458967
|
|
NM_001127222.2(CACNA1A):c.620C>T (p.Ser207Phe)
|
|
|
NM_001127222.2(CACNA1A):c.6230A>T (p.Asp2077Val)
|
rs2144523108
|
|
NM_001127222.2(CACNA1A):c.6233G>A (p.Ser2078Asn)
|
|
|
NM_001127222.2(CACNA1A):c.623G>C (p.Gly208Ala)
|
rs2144559143
|
|
NM_001127222.2(CACNA1A):c.6240C>G (p.His2080Gln)
|
rs2054835310
|
|
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.6275C>A (p.Ser2092Tyr)
|
rs2144522850
|
|
NM_001127222.2(CACNA1A):c.6284G>A (p.Arg2095His)
|
|
|
NM_001127222.2(CACNA1A):c.6292G>C (p.Ala2098Pro)
|
rs2144522708
|
|
NM_001127222.2(CACNA1A):c.6303+3G>A
|
|
|
NM_001127222.2(CACNA1A):c.6303+5G>A
|
|
|
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.632-3C>T
|
|
|
NM_001127222.2(CACNA1A):c.6322C>A (p.Arg2108Ser)
|
rs758498629
|
|
NM_001127222.2(CACNA1A):c.6322C>T (p.Arg2108Cys)
|
|
|
NM_001127222.2(CACNA1A):c.6323G>A (p.Arg2108His)
|
rs867865729
|
|
NM_001127222.2(CACNA1A):c.6339+4T>C
|
rs2054775532
|
|
NM_001127222.2(CACNA1A):c.6339+4T>G
|
|
|
NM_001127222.2(CACNA1A):c.6339+5G>C
|
rs2144513372
|
|
NM_001127222.2(CACNA1A):c.6340-17C>T
|
|
|
NM_001127222.2(CACNA1A):c.6340A>G (p.Thr2114Ala)
|
|
|
NM_001127222.2(CACNA1A):c.6340A>T (p.Thr2114Ser)
|
rs2054722290
|
|
NM_001127222.2(CACNA1A):c.6343_6345dup (p.Ile2115dup)
|
rs2144506658
|
|
NM_001127222.2(CACNA1A):c.6358C>T (p.Pro2120Ser)
|
rs2054721635
|
|
NM_001127222.2(CACNA1A):c.6361A>T (p.Met2121Leu)
|
rs1317004203
|
|
NM_001127222.2(CACNA1A):c.6367C>T (p.Arg2123Cys)
|
rs1255940553
|
|
NM_001127222.2(CACNA1A):c.6368G>A (p.Arg2123His)
|
rs1220294928
|
|
NM_001127222.2(CACNA1A):c.6384G>A (p.Leu2128=)
|
|
|
NM_001127222.2(CACNA1A):c.6385G>C (p.Gly2129Arg)
|
rs1369133711
|
|
NM_001127222.2(CACNA1A):c.6408C>A (p.Asp2136Glu)
|
|
|
NM_001127222.2(CACNA1A):c.6409G>A (p.Asp2137Asn)
|
rs755880731
|
|
NM_001127222.2(CACNA1A):c.6419T>G (p.Leu2140Arg)
|
|
|
NM_001127222.2(CACNA1A):c.6424C>T (p.Arg2142Trp)
|
|
|
NM_001127222.2(CACNA1A):c.6425G>A (p.Arg2142Gln)
|
rs1268148205
|
|
NM_001127222.2(CACNA1A):c.6436GAG[1] (p.Glu2147del)
|
|
|
NM_001127222.2(CACNA1A):c.643G>A (p.Val215Ile)
|
rs1555774867
|
|
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.6462_6494del (p.Arg2155_Arg2165del)
|
|
|
NM_001127222.2(CACNA1A):c.6464G>A (p.Arg2155His)
|
rs572722130
|
|
NM_001127222.2(CACNA1A):c.6473G>T (p.Arg2158Leu)
|
|
|
NM_001127222.2(CACNA1A):c.6478C>T (p.His2160Tyr)
|
|
|
NM_001127222.2(CACNA1A):c.6484G>A (p.Ala2162Thr)
|
rs17846928
|
|
NM_001127222.2(CACNA1A):c.64G>A (p.Gly22Arg)
|
|
|
NM_001127222.2(CACNA1A):c.6503G>C (p.Gly2168Ala)
|
|
|
NM_001127222.2(CACNA1A):c.6505C>G (p.Arg2169Gly)
|
rs375354077
|
|
NM_001127222.2(CACNA1A):c.6512C>T (p.Thr2171Ile)
|
|
|
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.6523A>C (p.Thr2175Pro)
|
|
|
NM_001127222.2(CACNA1A):c.6527-7G>A
|
rs1555730686
|
|
NM_001127222.2(CACNA1A):c.6527G>A (p.Gly2176Asp)
|
|
|
NM_001127222.2(CACNA1A):c.6542T>C (p.Leu2181Pro)
|
rs2144502972
|
|
NM_001127222.2(CACNA1A):c.6544A>T (p.Ser2182Cys)
|
|
|
NM_001127222.2(CACNA1A):c.6557A>T (p.Gln2186Leu)
|
|
|
NM_001127222.2(CACNA1A):c.655A>T (p.Ile219Phe)
|
rs2059190992
|
|
NM_001127222.2(CACNA1A):c.6561C>A (p.Ser2187=)
|
rs371116746
|
|
NM_001127222.2(CACNA1A):c.6565G>A (p.Asp2189Asn)
|
rs2144502827
|
|
NM_001127222.2(CACNA1A):c.6565del (p.Asp2189fs)
|
|
|
NM_001127222.2(CACNA1A):c.6572C>A (p.Pro2191Gln)
|
|
|
NM_001127222.2(CACNA1A):c.6584G>T (p.Arg2195Leu)
|
rs373192655
|
|
NM_001127222.2(CACNA1A):c.6587_6598dup (p.Arg2199_Gly2200insAspGlnGluArg)
|
|
|
NM_001127222.2(CACNA1A):c.658A>G (p.Met220Val)
|
|
|
NM_001127222.2(CACNA1A):c.6590_6601dup (p.Gly2200_Arg2201insGlnGluArgGly)
|
|
|
NM_001127222.2(CACNA1A):c.6591G>T (p.Gln2197His)
|
rs2054692765
|
|
NM_001127222.2(CACNA1A):c.6599G>C (p.Gly2200Ala)
|
rs1163864338
|
|
NM_001127222.2(CACNA1A):c.65G>A (p.Gly22Glu)
|
rs1983011989
|
|
NM_001127222.2(CACNA1A):c.65G>C (p.Gly22Ala)
|
rs1983011989
|
|
NM_001127222.2(CACNA1A):c.6609G>C (p.Lys2203Asn)
|
rs1276672646
|
|
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.6623_6631dup (p.Arg2208_His2210dup)
|
rs1305974321
|
|
NM_001127222.2(CACNA1A):c.6627G>C (p.Gln2209His)
|
|
|
NM_001127222.2(CACNA1A):c.6627dup (p.His2210fs)
|
rs1568419053
|
|
NM_001127222.2(CACNA1A):c.6630C>G (p.His2210Gln)
|
rs1006425986
|
|
NM_001127222.2(CACNA1A):c.6630CCA[7] (p.His2218_His2219del)
|
rs759331923
|
|
NM_001127222.2(CACNA1A):c.6633C>G (p.His2211Gln)
|
rs775606907
|
|
NM_001127222.2(CACNA1A):c.6634C>G (p.His2212Asp)
|
|
|
NM_001127222.2(CACNA1A):c.6640C>A (p.His2214Asn)
|
rs905447472
|
|
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.6649C>T (p.His2217Tyr)
|
rs2054687055
|
|
NM_001127222.2(CACNA1A):c.6650A>T (p.His2217Leu)
|
rs2054686938
|
|
NM_001127222.2(CACNA1A):c.6650_6658del (p.His2217_His2219del)
|
rs776181081
|
|
NM_001127222.2(CACNA1A):c.6652C>T (p.His2218Tyr)
|
|
|
NM_001127222.2(CACNA1A):c.6652_6653insCCCACC (p.His2217_His2218insProHis)
|
|
|
NM_001127222.2(CACNA1A):c.6655C>A (p.His2219Asn)
|
rs1307304917
|
|
NM_001127222.2(CACNA1A):c.6656_6657delinsCC (p.His2219Pro)
|
rs1085307607
|
|
NM_001127222.2(CACNA1A):c.6656_6658del (p.His2219del)
|
rs749638821
|
|
NM_001127222.2(CACNA1A):c.6658_6659insACCACC (p.His2219_Pro2220insHisHis)
|
|
|
NM_001127222.2(CACNA1A):c.6659ACC[3] (p.His2217_His2219dup)
|
rs768950814
|
|
NM_001127222.2(CACNA1A):c.6659ACC[6] (p.His2219_Pro2220insHisHisHisHisHisHis)
|
|
|
NM_001127222.2(CACNA1A):c.6659C>A (p.Pro2220His)
|
rs16052
|
|
NM_001127222.2(CACNA1A):c.6664C>T (p.Pro2222Ser)
|
|
|
NM_001127222.2(CACNA1A):c.6670G>A (p.Asp2224Asn)
|
|
|
NM_001127222.2(CACNA1A):c.6678C>A (p.Asp2226Glu)
|
rs1181604906
|
|
NM_001127222.2(CACNA1A):c.6679C>A (p.Arg2227Ser)
|
|
|
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.6686C>G (p.Ala2229Gly)
|
|
|
NM_001127222.2(CACNA1A):c.6689A>G (p.Gln2230Arg)
|
rs936533797
|
|
NM_001127222.2(CACNA1A):c.6696_6697delinsTT (p.Pro2233Ser)
|
|
|
NM_001127222.2(CACNA1A):c.6697C>T (p.Pro2233Ser)
|
|
|
NM_001127222.2(CACNA1A):c.6701A>T (p.Asp2234Val)
|
|
|
NM_001127222.2(CACNA1A):c.6703C>G (p.His2235Asp)
|
|
|
NM_001127222.2(CACNA1A):c.6703C>T (p.His2235Tyr)
|
rs903913051
|
|
NM_001127222.2(CACNA1A):c.6704A>G (p.His2235Arg)
|
rs758639263
|
|
NM_001127222.2(CACNA1A):c.6706G>T (p.Gly2236Cys)
|
rs752808137
|
|
NM_001127222.2(CACNA1A):c.6784_6788del (p.Ser2262fs)
|
|
|
NM_001127222.2(CACNA1A):c.6785G>A (p.Ser2262Asn)
|
rs2054633316
|
|
NM_001127222.2(CACNA1A):c.685A>G (p.Ile229Val)
|
rs2059190527
|
|
NM_001127222.2(CACNA1A):c.698T>C (p.Leu233Pro)
|
rs2059190252
|
|
NM_001127222.2(CACNA1A):c.712_726dup (p.Leu238_Ile242dup)
|
rs1568574602
|
|
NM_001127222.2(CACNA1A):c.760A>G (p.Thr254Ala)
|
rs2059189603
|
|
NM_001127222.2(CACNA1A):c.767G>T (p.Cys256Phe)
|
rs2059189489
|
|
NM_001127222.2(CACNA1A):c.76G>T (p.Gly26Cys)
|
|
|
NM_001127222.2(CACNA1A):c.773A>C (p.Glu258Ala)
|
rs2059189452
|
|
NM_001127222.2(CACNA1A):c.784+4G>A
|
|
|
NM_001127222.2(CACNA1A):c.784G>C (p.Asp262His)
|
|
|
NM_001127222.2(CACNA1A):c.785-3T>C
|
rs2145245902
|
|
NM_001127222.2(CACNA1A):c.788A>T (p.Asp263Val)
|
rs2059070159
|
|
NM_001127222.2(CACNA1A):c.79A>G (p.Ser27Gly)
|
|
|
NM_001127222.2(CACNA1A):c.7C>G (p.Arg3Gly)
|
rs1326606155
|
|
NM_001127222.2(CACNA1A):c.800A>G (p.Glu267Gly)
|
|
|
NM_001127222.2(CACNA1A):c.806C>T (p.Pro269Leu)
|
rs763911399
|
|
NM_001127222.2(CACNA1A):c.80G>T (p.Ser27Ile)
|
|
|
NM_001127222.2(CACNA1A):c.832G>A (p.Ala278Thr)
|
rs1013100046
|
|
NM_001127222.2(CACNA1A):c.835C>A (p.Arg279Ser)
|
|
|
NM_001127222.2(CACNA1A):c.8G>A (p.Arg3His)
|
|
|
NM_001127222.2(CACNA1A):c.938A>G (p.Gln313Arg)
|
|
|
NM_001127222.2(CACNA1A):c.967C>G (p.Leu323Val)
|
|
|
NM_001127222.2(CACNA1A):c.97G>T (p.Ala33Ser)
|
rs749474997
|
|