NM_001330260.2(SCN8A):c.4796-38C>A
|
rs303828
|
0.86075
|
NM_001330260.2(SCN8A):c.576C>T (p.Asp192=)
|
rs4761829
|
0.81114
|
NM_001330260.2(SCN8A):c.1135-48C>T
|
rs2291265
|
0.78368
|
NM_001330260.2(SCN8A):c.3490+20G>A
|
rs303808
|
0.76481
|
NM_001330260.2(SCN8A):c.4509T>C (p.Pro1503=)
|
rs303815
|
0.62374
|
NM_001330260.2(SCN8A):c.1833G>T (p.Arg611=)
|
rs35242963
|
0.01438
|
NM_001330260.2(SCN8A):c.3076C>T (p.Arg1026Cys)
|
rs117217073
|
0.01112
|
NM_001330260.2(SCN8A):c.4122T>A (p.Thr1374=)
|
rs115623439
|
0.00531
|
NM_001330260.2(SCN8A):c.4278G>A (p.Arg1426=)
|
rs143867796
|
0.00183
|
NM_001330260.2(SCN8A):c.2098A>T (p.Ile700Leu)
|
rs187153231
|
0.00138
|
NM_001330260.2(SCN8A):c.3822C>T (p.Val1274=)
|
rs187327463
|
0.00132
|
NM_001330260.2(SCN8A):c.4748T>C (p.Ile1583Thr)
|
rs201458257
|
0.00027
|
NM_001330260.2(SCN8A):c.5879G>A (p.Arg1960Gln)
|
rs369346315
|
0.00006
|
NM_001330260.2(SCN8A):c.3060G>C (p.Gln1020His)
|
rs528718802
|
0.00003
|
NM_001330260.2(SCN8A):c.1588C>T (p.Arg530Trp)
|
rs761336234
|
0.00002
|
NM_001330260.2(SCN8A):c.3267C>A (p.Asn1089Lys)
|
rs761386688
|
0.00002
|
NM_001330260.2(SCN8A):c.1396G>A (p.Glu466Lys)
|
rs557559740
|
0.00001
|
NM_001330260.2(SCN8A):c.2003C>T (p.Thr668Ile)
|
rs758253791
|
0.00001
|
NM_001330260.2(SCN8A):c.2139A>C (p.Glu713Asp)
|
rs1218269439
|
0.00001
|
NM_001330260.2(SCN8A):c.3136G>A (p.Ala1046Thr)
|
rs775833241
|
0.00001
|
NM_001330260.2(SCN8A):c.3164G>A (p.Arg1055Gln)
|
rs756127631
|
0.00001
|
NM_001330260.2(SCN8A):c.457A>C (p.Asn153His)
|
rs796053232
|
0.00001
|
NM_001330260.2(SCN8A):c.4634C>T (p.Thr1545Ile)
|
rs759753811
|
0.00001
|
NM_001330260.2(SCN8A):c.5479A>G (p.Ile1827Val)
|
rs764115258
|
0.00001
|
NM_001330260.2(SCN8A):c.1045G>A (p.Gly349Ser)
|
rs2138742433
|
|
NM_001330260.2(SCN8A):c.1094G>A (p.Arg365His)
|
rs1592390511
|
|
NM_001330260.2(SCN8A):c.1162A>G (p.Met388Val)
|
rs2138748054
|
|
NM_001330260.2(SCN8A):c.1221G>C (p.Leu407Phe)
|
rs879255698
|
|
NM_001330260.2(SCN8A):c.1228G>C (p.Val410Leu)
|
rs879255699
|
|
NM_001330260.2(SCN8A):c.1228G>T (p.Val410Leu)
|
rs879255699
|
|
NM_001330260.2(SCN8A):c.1238C>A (p.Ala413Asp)
|
|
|
NM_001330260.2(SCN8A):c.1264C>A (p.Leu422Met)
|
rs2138748384
|
|
NM_001330260.2(SCN8A):c.1420C>T (p.Pro474Ser)
|
rs1160066733
|
|
NM_001330260.2(SCN8A):c.1452C>T (p.Ser484=)
|
rs1941787074
|
|
NM_001330260.2(SCN8A):c.1460G>C (p.Ser487Thr)
|
|
|
NM_001330260.2(SCN8A):c.1676A>G (p.His559Arg)
|
|
|
NM_001330260.2(SCN8A):c.1850A>G (p.Tyr617Cys)
|
rs1308021407
|
|
NM_001330260.2(SCN8A):c.2105G>C (p.Ser702Thr)
|
rs2138828935
|
|
NM_001330260.2(SCN8A):c.2248G>A (p.Val750Ile)
|
rs1942594128
|
|
NM_001330260.2(SCN8A):c.2266G>A (p.Asp756Asn)
|
|
|
NM_001330260.2(SCN8A):c.2300C>T (p.Thr767Ile)
|
rs797045013
|
|
NM_001330260.2(SCN8A):c.2371-32A>C
|
rs303767
|
|
NM_001330260.2(SCN8A):c.2507A>T (p.Asp836Val)
|
|
|
NM_001330260.2(SCN8A):c.2518C>T (p.Leu840Phe)
|
rs1942779292
|
|
NM_001330260.2(SCN8A):c.2534C>T (p.Ser845Phe)
|
rs796053210
|
|
NM_001330260.2(SCN8A):c.2537T>C (p.Phe846Ser)
|
rs879255700
|
|
NM_001330260.2(SCN8A):c.2545-7dup
|
rs56879517
|
|
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
|
|
|
NM_001330260.2(SCN8A):c.2603T>C (p.Ile868Thr)
|
rs1555225794
|
|
NM_001330260.2(SCN8A):c.2617G>T (p.Gly873Cys)
|
rs1942828530
|
|
NM_001330260.2(SCN8A):c.2620G>A (p.Ala874Thr)
|
rs1057524820
|
|
NM_001330260.2(SCN8A):c.2620G>T (p.Ala874Ser)
|
rs1057524820
|
|
NM_001330260.2(SCN8A):c.2621C>T (p.Ala874Val)
|
|
|
NM_001330260.2(SCN8A):c.2624T>A (p.Leu875Gln)
|
rs879255701
|
|
NM_001330260.2(SCN8A):c.2633T>C (p.Leu878Pro)
|
rs1942828881
|
|
NM_001330260.2(SCN8A):c.2641G>C (p.Val881Leu)
|
rs1592149771
|
|
NM_001330260.2(SCN8A):c.2642_2643insACCA (p.Leu882fs)
|
|
|
NM_001330260.2(SCN8A):c.2668G>A (p.Ala890Thr)
|
rs879255702
|
|
NM_001330260.2(SCN8A):c.2668G>C (p.Ala890Pro)
|
rs879255702
|
|
NM_001330260.2(SCN8A):c.2674G>T (p.Val892Leu)
|
|
|
NM_001330260.2(SCN8A):c.2675T>G (p.Val892Gly)
|
rs863225295
|
|
NM_001330260.2(SCN8A):c.2702A>G (p.Tyr901Cys)
|
rs1942829767
|
|
NM_001330260.2(SCN8A):c.2706del (p.Glu903fs)
|
rs2138862858
|
|
NM_001330260.2(SCN8A):c.2824_2825insA (p.Trp942Ter)
|
rs2138863024
|
|
NM_001330260.2(SCN8A):c.2879T>A (p.Val960Asp)
|
rs879255703
|
|
NM_001330260.2(SCN8A):c.2901+1G>C
|
rs1942832440
|
|
NM_001330260.2(SCN8A):c.2901+2T>C
|
rs2138863154
|
|
NM_001330260.2(SCN8A):c.2932A>G (p.Ser978Gly)
|
rs1057519540
|
|
NM_001330260.2(SCN8A):c.2934C>A (p.Ser978Arg)
|
|
|
NM_001330260.2(SCN8A):c.2935_2936delinsAA (p.Ser979Asn)
|
|
|
NM_001330260.2(SCN8A):c.2952C>G (p.Asn984Lys)
|
rs876657399
|
|
NM_001330260.2(SCN8A):c.2965G>T (p.Asp989Tyr)
|
rs1942878547
|
|
NM_001330260.2(SCN8A):c.297A>C (p.Arg99Ser)
|
rs1565885985
|
|
NM_001330260.2(SCN8A):c.2983A>G (p.Asn995Asp)
|
rs1565917769
|
|
NM_001330260.2(SCN8A):c.2985C>A (p.Asn995Lys)
|
rs1942879102
|
|
NM_001330260.2(SCN8A):c.3103G>A (p.Asp1035Asn)
|
|
|
NM_001330260.2(SCN8A):c.3130T>C (p.Cys1044Arg)
|
rs1942882733
|
|
NM_001330260.2(SCN8A):c.3149G>C (p.Gly1050Ala)
|
rs2138868637
|
|
NM_001330260.2(SCN8A):c.3154G>A (p.Asp1052Asn)
|
rs1942883632
|
|
NM_001330260.2(SCN8A):c.3245A>T (p.Asp1082Val)
|
rs2138868846
|
|
NM_001330260.2(SCN8A):c.3295G>A (p.Ala1099Thr)
|
rs1592151654
|
|
NM_001330260.2(SCN8A):c.3307T>A (p.Ser1103Thr)
|
|
|
NM_001330260.2(SCN8A):c.3327C>G (p.Asn1109Lys)
|
|
|
NM_001330260.2(SCN8A):c.3336T>A (p.Asp1112Glu)
|
rs1942887434
|
|
NM_001330260.2(SCN8A):c.3367A>C (p.Lys1123Gln)
|
rs1555226186
|
|
NM_001330260.2(SCN8A):c.3536G>A (p.Gly1179Glu)
|
|
|
NM_001330260.2(SCN8A):c.3563G>A (p.Arg1188Gln)
|
rs1555226375
|
|
NM_001330260.2(SCN8A):c.3577C>T (p.Leu1193Phe)
|
rs2138871696
|
|
NM_001330260.2(SCN8A):c.3583G>A (p.Val1195Met)
|
rs1942911383
|
|
NM_001330260.2(SCN8A):c.3820-1G>T
|
rs1373881732
|
|
NM_001330260.2(SCN8A):c.3942+248C>G
|
|
|
NM_001330260.2(SCN8A):c.3942+2_3942+5dup
|
rs764867016
|
|
NM_001330260.2(SCN8A):c.3943G>A (p.Val1315Met)
|
rs1555228303
|
|
NM_001330260.2(SCN8A):c.3953A>G (p.Asn1318Ser)
|
rs1592162430
|
|
NM_001330260.2(SCN8A):c.3967G>A (p.Ala1323Thr)
|
rs794727361
|
|
NM_001330260.2(SCN8A):c.3967G>T (p.Ala1323Ser)
|
rs794727361
|
|
NM_001330260.2(SCN8A):c.3979A>G (p.Ile1327Val)
|
rs879255704
|
|
NM_001330260.2(SCN8A):c.3991C>G (p.Leu1331Val)
|
rs397514738
|
|
NM_001330260.2(SCN8A):c.3995T>C (p.Leu1332Pro)
|
rs2138904112
|
|
NM_001330260.2(SCN8A):c.4007T>C (p.Ile1336Thr)
|
rs1938093232
|
|
NM_001330260.2(SCN8A):c.4033G>T (p.Gly1345Ter)
|
rs1555228329
|
|
NM_001330260.2(SCN8A):c.4064del (p.Tyr1355fs)
|
rs2138904272
|
|
NM_001330260.2(SCN8A):c.4078A>T (p.Thr1360Ser)
|
rs796053215
|
|
NM_001330260.2(SCN8A):c.4082C>G (p.Ser1361Cys)
|
|
|
NM_001330260.2(SCN8A):c.4146_4147dup (p.Asn1383fs)
|
rs1555228380
|
|
NM_001330260.2(SCN8A):c.4196T>C (p.Val1399Ala)
|
rs2138904540
|
|
NM_001330260.2(SCN8A):c.4219C>T (p.Leu1407Phe)
|
rs2138904598
|
|
NM_001330260.2(SCN8A):c.4235T>C (p.Phe1412Ser)
|
rs1555228665
|
|
NM_001330260.2(SCN8A):c.4264G>A (p.Ala1422Thr)
|
rs2138908345
|
|
NM_001330260.2(SCN8A):c.4282-10C>G
|
rs369145855
|
|
NM_001330260.2(SCN8A):c.4328A>G (p.Tyr1443Cys)
|
rs2138909536
|
|
NM_001330260.2(SCN8A):c.4351G>A (p.Gly1451Ser)
|
rs863223345
|
|
NM_001330260.2(SCN8A):c.4394A>T (p.Asp1465Val)
|
rs1135401806
|
|
NM_001330260.2(SCN8A):c.4397A>C (p.Asn1466Thr)
|
rs587777723
|
|
NM_001330260.2(SCN8A):c.4398C>A (p.Asn1466Lys)
|
rs587777722
|
|
NM_001330260.2(SCN8A):c.4403A>G (p.Asn1468Ser)
|
rs1057518667
|
|
NM_001330260.2(SCN8A):c.4408C>A (p.Gln1470Lys)
|
|
|
NM_001330260.2(SCN8A):c.4409A>C (p.Gln1470Pro)
|
rs1555228771
|
|
NM_001330260.2(SCN8A):c.4409A>G (p.Gln1470Arg)
|
rs1555228771
|
|
NM_001330260.2(SCN8A):c.4423G>A (p.Gly1475Arg)
|
rs796053216
|
|
NM_001330260.2(SCN8A):c.4426G>A (p.Gly1476Ser)
|
rs1064793263
|
|
NM_001330260.2(SCN8A):c.4435A>G (p.Ile1479Val)
|
rs796053217
|
|
NM_001330260.2(SCN8A):c.4436T>C (p.Ile1479Thr)
|
rs1938214529
|
|
NM_001330260.2(SCN8A):c.4442T>A (p.Met1481Lys)
|
rs796053219
|
|
NM_001330260.2(SCN8A):c.4443_4444delinsTG (p.Met1481_Thr1482delinsIleAla)
|
rs1938214882
|
|
NM_001330260.2(SCN8A):c.4447G>A (p.Glu1483Lys)
|
rs879255652
|
|
NM_001330260.2(SCN8A):c.4475T>C (p.Met1492Thr)
|
|
|
NM_001330260.2(SCN8A):c.4492A>G (p.Lys1498Glu)
|
rs1555228931
|
|
NM_001330260.2(SCN8A):c.4587G>T (p.Met1529Ile)
|
|
|
NM_001330260.2(SCN8A):c.4594A>T (p.Ile1532Phe)
|
rs1555229496
|
|
NM_001330260.2(SCN8A):c.4774G>A (p.Val1592Ile)
|
rs587780454
|
|
NM_001330260.2(SCN8A):c.4774G>C (p.Val1592Leu)
|
rs587780454
|
|
NM_001330260.2(SCN8A):c.4787C>G (p.Ser1596Cys)
|
rs879255705
|
|
NM_001330260.2(SCN8A):c.4789A>G (p.Ile1597Val)
|
|
|
NM_001330260.2(SCN8A):c.4813A>G (p.Ile1605Val)
|
rs879255706
|
|
NM_001330260.2(SCN8A):c.4850G>A (p.Arg1617Gln)
|
rs587777721
|
|
NM_001330260.2(SCN8A):c.4850G>T (p.Arg1617Leu)
|
rs587777721
|
|
NM_001330260.2(SCN8A):c.4862T>G (p.Leu1621Trp)
|
rs879255707
|
|
NM_001330260.2(SCN8A):c.4871T>G (p.Ile1624Ser)
|
|
|
NM_001330260.2(SCN8A):c.4873G>A (p.Gly1625Arg)
|
rs879255708
|
|
NM_001330260.2(SCN8A):c.4877G>A (p.Arg1626His)
|
|
|
NM_001330260.2(SCN8A):c.4883T>C (p.Leu1628Ser)
|
rs1555230928
|
|
NM_001330260.2(SCN8A):c.4900G>A (p.Ala1634Thr)
|
rs996870199
|
|
NM_001330260.2(SCN8A):c.4913G>A (p.Arg1638His)
|
rs1064794873
|
|
NM_001330260.2(SCN8A):c.4924T>C (p.Phe1642Leu)
|
rs1938703650
|
|
NM_001330260.2(SCN8A):c.4944G>C (p.Leu1648Phe)
|
rs773587801
|
|
NM_001330260.2(SCN8A):c.4948G>A (p.Ala1650Thr)
|
rs879255709
|
|
NM_001330260.2(SCN8A):c.4949C>A (p.Ala1650Asp)
|
rs796053224
|
|
NM_001330260.2(SCN8A):c.4966C>T (p.Leu1656Phe)
|
rs1938704933
|
|
NM_001330260.2(SCN8A):c.5047G>A (p.Asp1683Asn)
|
rs1023188648
|
|
NM_001330260.2(SCN8A):c.5087T>G (p.Ile1696Ser)
|
|
|
NM_001330260.2(SCN8A):c.5181C>A (p.His1727Gln)
|
rs1057519190
|
|
NM_001330260.2(SCN8A):c.5276A>G (p.Asn1759Ser)
|
rs869312690
|
|
NM_001330260.2(SCN8A):c.5279T>C (p.Met1760Thr)
|
rs1555231012
|
|
NM_001330260.2(SCN8A):c.5282A>G (p.Tyr1761Cys)
|
|
|
NM_001330260.2(SCN8A):c.5297T>G (p.Leu1766Arg)
|
rs1938713472
|
|
NM_001330260.2(SCN8A):c.5302A>G (p.Asn1768Asp)
|
rs202151337
|
|
NM_001330260.2(SCN8A):c.5307C>A (p.Phe1769Leu)
|
|
|
NM_001330260.2(SCN8A):c.5333A>G (p.Asp1778Gly)
|
rs1938714598
|
|
NM_001330260.2(SCN8A):c.5401C>G (p.Gln1801Glu)
|
rs879255710
|
|
NM_001330260.2(SCN8A):c.5472C>A (p.Pro1824=)
|
rs60637
|
|
NM_001330260.2(SCN8A):c.5594T>C (p.Leu1865Pro)
|
|
|
NM_001330260.2(SCN8A):c.5606T>C (p.Met1869Thr)
|
rs1064794727
|
|
NM_001330260.2(SCN8A):c.5610A>T (p.Glu1870Asp)
|
rs879255711
|
|
NM_001330260.2(SCN8A):c.5614C>T (p.Arg1872Trp)
|
rs796053228
|
|
NM_001330260.2(SCN8A):c.5615G>A (p.Arg1872Gln)
|
rs796053229
|
|
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser)
|
rs587780455
|
|
NM_001330260.2(SCN8A):c.5740G>A (p.Gly1914Ser)
|
|
|
NM_001330260.2(SCN8A):c.5793C>G (p.His1931Gln)
|
rs1938732126
|
|
NM_001330260.2(SCN8A):c.632T>G (p.Val211Gly)
|
rs1592380834
|
|
NM_001330260.2(SCN8A):c.677G>C (p.Arg226Pro)
|
|
|
NM_001330260.2(SCN8A):c.718A>T (p.Ile240Phe)
|
rs1064793923
|
|
NM_001330260.2(SCN8A):c.719T>C (p.Ile240Thr)
|
rs1592387849
|
|
NM_001330260.2(SCN8A):c.737A>G (p.Gln246Arg)
|
|
|
NM_001330260.2(SCN8A):c.761T>G (p.Val254Gly)
|
rs2138735599
|
|
NM_001330260.2(SCN8A):c.772A>G (p.Thr258Ala)
|
|
|
NM_001330260.2(SCN8A):c.773C>T (p.Thr258Ile)
|
rs1555218630
|
|
NM_001330260.2(SCN8A):c.778T>G (p.Phe260Val)
|
|
|
NM_001330260.2(SCN8A):c.779T>C (p.Phe260Ser)
|
rs879255697
|
|
NM_001330260.2(SCN8A):c.844_845del (p.Val282fs)
|
|
|
NM_001330260.2(SCN8A):c.970T>A (p.Cys324Ser)
|
|
|
NM_001330260.2(SCN8A):c.971G>A (p.Cys324Tyr)
|
rs2138739035
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NM_014191.4(SCN8A):c.629T>C (p.Phe210Ser)
|
rs879255693
|
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NM_014191.4(SCN8A):c.641G>A (p.Gly214Asp)
|
rs879255694
|
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NM_014191.4(SCN8A):c.643A>G (p.Asn215Asp)
|
rs879255695
|
|
NM_014191.4(SCN8A):c.647T>A (p.Val216Asp)
|
rs879255696
|
|
NM_014191.4(SCN8A):c.647T>G (p.Val216Gly)
|
rs879255696
|
|
NM_014191.4(SCN8A):c.667A>G (p.Arg223Gly)
|
rs672601319
|
|
NM_014191.4(SCN8A):c.668G>C (p.Arg223Thr)
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|
|
NM_014191.4(SCN8A):c.676A>G (p.Arg226Gly)
|
rs1592380687
|
|
NM_014191.4(SCN8A):c.697G>A (p.Val233Ile)
|
rs1592380699
|
|
NM_014191.4(SCN8A):c.697G>T (p.Val233Leu)
|
rs1592380699
|
|
NP_055006.1(SCN8A):p.Pro1428_Lys1473del
|
|
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