NM_020822.3(KCNT1):c.99A>G (p.Gln33=)
|
rs146152956
|
0.00323
|
NM_020822.3(KCNT1):c.3256G>A (p.Gly1086Arg)
|
rs201156458
|
0.00122
|
NM_020822.3(KCNT1):c.2142G>A (p.Leu714=)
|
rs370580872
|
0.00098
|
NM_020822.3(KCNT1):c.1879A>G (p.Ile627Val)
|
rs143355299
|
0.00090
|
NM_020822.3(KCNT1):c.2034C>T (p.Gly678=)
|
rs369983077
|
0.00088
|
NM_020822.3(KCNT1):c.942C>T (p.Thr314=)
|
rs144766991
|
0.00075
|
NM_020822.3(KCNT1):c.1726G>A (p.Glu576Lys)
|
rs147306623
|
0.00048
|
NM_020822.3(KCNT1):c.2070C>T (p.Gly690=)
|
rs370155559
|
0.00041
|
NM_020822.3(KCNT1):c.885G>A (p.Ala295=)
|
rs142756900
|
0.00036
|
NM_020822.3(KCNT1):c.522G>A (p.Met174Ile)
|
rs147551342
|
0.00035
|
NM_020822.3(KCNT1):c.1338-3C>T
|
rs369562243
|
0.00031
|
NM_020822.3(KCNT1):c.2214G>A (p.Pro738=)
|
rs142424896
|
0.00026
|
NM_020822.3(KCNT1):c.1928G>A (p.Arg643Gln)
|
rs141281093
|
0.00021
|
NM_020822.3(KCNT1):c.474G>A (p.Ser158=)
|
rs139076605
|
0.00019
|
NM_020822.3(KCNT1):c.867C>A (p.Ile289=)
|
rs761045901
|
0.00018
|
NM_020822.3(KCNT1):c.1394C>T (p.Thr465Met)
|
rs539139475
|
0.00014
|
NM_020822.3(KCNT1):c.3058C>T (p.Arg1020Cys)
|
rs747605326
|
0.00014
|
NM_020822.3(KCNT1):c.1899G>A (p.Ser633=)
|
rs371135108
|
0.00012
|
NM_020822.3(KCNT1):c.3598C>T (p.Arg1200Cys)
|
rs372028322
|
0.00012
|
NM_020822.3(KCNT1):c.2217G>A (p.Ser739=)
|
rs143678590
|
0.00011
|
NM_020822.3(KCNT1):c.1995C>T (p.Ile665=)
|
rs757811625
|
0.00010
|
NM_020822.3(KCNT1):c.2008+10G>C
|
rs752453368
|
0.00009
|
NM_020822.3(KCNT1):c.2052G>A (p.Thr684=)
|
rs376314779
|
0.00009
|
NM_020822.3(KCNT1):c.2527G>A (p.Asp843Asn)
|
rs376758763
|
0.00009
|
NM_020822.3(KCNT1):c.981G>A (p.Ser327=)
|
rs373317695
|
0.00009
|
NM_020822.3(KCNT1):c.1718G>A (p.Arg573His)
|
rs575162600
|
0.00008
|
NM_020822.3(KCNT1):c.1077_1078del (p.Gly361fs)
|
rs796214553
|
0.00007
|
NM_020822.3(KCNT1):c.3153G>A (p.Ser1051=)
|
rs141802876
|
0.00006
|
NM_020822.3(KCNT1):c.3281C>T (p.Thr1094Met)
|
rs373041291
|
0.00006
|
NM_020822.3(KCNT1):c.3575C>T (p.Pro1192Leu)
|
rs147654995
|
0.00006
|
NM_020822.3(KCNT1):c.1402-6C>T
|
rs755796820
|
0.00005
|
NM_020822.3(KCNT1):c.1510+4C>T
|
rs554828530
|
0.00005
|
NM_020822.3(KCNT1):c.408C>T (p.Leu136=)
|
rs370046449
|
0.00005
|
NM_020822.3(KCNT1):c.1156C>T (p.Leu386Phe)
|
rs780875110
|
0.00004
|
NM_020822.3(KCNT1):c.1776C>T (p.Gly592=)
|
rs769406687
|
0.00004
|
NM_020822.3(KCNT1):c.1996A>T (p.Ile666Phe)
|
rs376231681
|
0.00004
|
NM_020822.3(KCNT1):c.2223C>T (p.Asp741=)
|
rs144118960
|
0.00004
|
NM_020822.3(KCNT1):c.2270C>T (p.Ser757Leu)
|
rs775923151
|
0.00004
|
NM_020822.3(KCNT1):c.2281G>A (p.Gly761Ser)
|
rs761987610
|
0.00004
|
NM_020822.3(KCNT1):c.2594+7C>T
|
rs545094921
|
0.00004
|
NM_020822.3(KCNT1):c.3059G>A (p.Arg1020His)
|
rs373365707
|
0.00004
|
NM_020822.3(KCNT1):c.3289G>A (p.Gly1097Ser)
|
rs199779214
|
0.00004
|
NM_020822.3(KCNT1):c.3450C>T (p.Ser1150=)
|
rs757210594
|
0.00004
|
NM_020822.3(KCNT1):c.3679C>T (p.Pro1227Ser)
|
rs779262121
|
0.00004
|
NM_020822.3(KCNT1):c.1110G>A (p.Thr370=)
|
rs140367649
|
0.00003
|
NM_020822.3(KCNT1):c.1637C>T (p.Pro546Leu)
|
rs770986306
|
0.00003
|
NM_020822.3(KCNT1):c.1777G>A (p.Val593Met)
|
rs779590747
|
0.00003
|
NM_020822.3(KCNT1):c.2045G>A (p.Arg682Gln)
|
rs1188425438
|
0.00003
|
NM_020822.3(KCNT1):c.2109G>T (p.Ser703=)
|
rs767200583
|
0.00003
|
NM_020822.3(KCNT1):c.3072C>T (p.Arg1024=)
|
rs141695705
|
0.00003
|
NM_020822.3(KCNT1):c.3149C>T (p.Thr1050Ile)
|
rs1313669242
|
0.00003
|
NM_020822.3(KCNT1):c.3537C>T (p.Tyr1179=)
|
rs149927148
|
0.00003
|
NM_020822.3(KCNT1):c.600+9C>T
|
rs1287458024
|
0.00003
|
NM_020822.3(KCNT1):c.675G>A (p.Thr225=)
|
rs773255063
|
0.00003
|
NM_020822.3(KCNT1):c.776C>T (p.Ala259Val)
|
rs776559951
|
0.00003
|
NM_020822.3(KCNT1):c.104C>T (p.Ala35Val)
|
rs772080195
|
0.00002
|
NM_020822.3(KCNT1):c.1717C>T (p.Arg573Cys)
|
rs557219607
|
0.00002
|
NM_020822.3(KCNT1):c.1759G>A (p.Ala587Thr)
|
rs144421853
|
0.00002
|
NM_020822.3(KCNT1):c.1838G>A (p.Arg613Gln)
|
rs571757257
|
0.00002
|
NM_020822.3(KCNT1):c.1927C>T (p.Arg643Trp)
|
rs532620254
|
0.00002
|
NM_020822.3(KCNT1):c.1955G>T (p.Gly652Val)
|
rs536588045
|
0.00002
|
NM_020822.3(KCNT1):c.2071G>A (p.Gly691Arg)
|
rs769596439
|
0.00002
|
NM_020822.3(KCNT1):c.254+10G>C
|
rs772892562
|
0.00002
|
NM_020822.3(KCNT1):c.2595-8G>A
|
rs779012524
|
0.00002
|
NM_020822.3(KCNT1):c.2949C>T (p.Phe983=)
|
rs764574987
|
0.00002
|
NM_020822.3(KCNT1):c.3158C>A (p.Pro1053His)
|
rs776239808
|
0.00002
|
NM_020822.3(KCNT1):c.3196G>A (p.Val1066Met)
|
rs553389226
|
0.00002
|
NM_020822.3(KCNT1):c.3244C>T (p.Arg1082Cys)
|
rs776232246
|
0.00002
|
NM_020822.3(KCNT1):c.3359C>T (p.Ala1120Val)
|
rs745484103
|
0.00002
|
NM_020822.3(KCNT1):c.3376C>T (p.Arg1126Trp)
|
rs763400879
|
0.00002
|
NM_020822.3(KCNT1):c.3409C>T (p.Arg1137Cys)
|
rs779430817
|
0.00002
|
NM_020822.3(KCNT1):c.3488C>T (p.Pro1163Leu)
|
rs1439404936
|
0.00002
|
NM_020822.3(KCNT1):c.3502G>A (p.Asp1168Asn)
|
rs747317425
|
0.00002
|
NM_020822.3(KCNT1):c.889G>A (p.Glu297Lys)
|
rs146070496
|
0.00002
|
NM_020822.3(KCNT1):c.958G>A (p.Val320Ile)
|
rs773718324
|
0.00002
|
NM_020822.3(KCNT1):c.1150G>A (p.Asp384Asn)
|
rs762752381
|
0.00001
|
NM_020822.3(KCNT1):c.1210G>A (p.Val404Met)
|
rs368174673
|
0.00001
|
NM_020822.3(KCNT1):c.1249C>T (p.Arg417Cys)
|
rs781342838
|
0.00001
|
NM_020822.3(KCNT1):c.1257C>G (p.Val419=)
|
rs547714141
|
0.00001
|
NM_020822.3(KCNT1):c.1498G>A (p.Val500Ile)
|
rs778483249
|
0.00001
|
NM_020822.3(KCNT1):c.1511-5C>T
|
rs546333402
|
0.00001
|
NM_020822.3(KCNT1):c.1516G>A (p.Val506Met)
|
rs905524850
|
0.00001
|
NM_020822.3(KCNT1):c.1521G>A (p.Val507=)
|
rs759337224
|
0.00001
|
NM_020822.3(KCNT1):c.1577C>T (p.Thr526Ile)
|
rs753874335
|
0.00001
|
NM_020822.3(KCNT1):c.1627C>T (p.Gln543Ter)
|
rs1479237463
|
0.00001
|
NM_020822.3(KCNT1):c.1664G>A (p.Arg555His)
|
rs764477306
|
0.00001
|
NM_020822.3(KCNT1):c.1700G>T (p.Gly567Val)
|
rs781375160
|
0.00001
|
NM_020822.3(KCNT1):c.1729G>A (p.Gly577Ser)
|
rs1220099278
|
0.00001
|
NM_020822.3(KCNT1):c.1837C>T (p.Arg613Trp)
|
rs779639843
|
0.00001
|
NM_020822.3(KCNT1):c.1963G>A (p.Glu655Lys)
|
rs770039542
|
0.00001
|
NM_020822.3(KCNT1):c.1967G>A (p.Gly656Asp)
|
rs775458154
|
0.00001
|
NM_020822.3(KCNT1):c.1975C>T (p.Arg659Cys)
|
rs753599140
|
0.00001
|
NM_020822.3(KCNT1):c.1976G>A (p.Arg659His)
|
rs754634573
|
0.00001
|
NM_020822.3(KCNT1):c.2048C>A (p.Pro683His)
|
rs1411700632
|
0.00001
|
NM_020822.3(KCNT1):c.2059G>A (p.Gly687Ser)
|
rs1156662870
|
0.00001
|
NM_020822.3(KCNT1):c.2096C>T (p.Thr699Met)
|
rs538197009
|
0.00001
|
NM_020822.3(KCNT1):c.2174G>C (p.Cys725Ser)
|
rs756112023
|
0.00001
|
NM_020822.3(KCNT1):c.218T>C (p.Leu73Pro)
|
rs748537758
|
0.00001
|
NM_020822.3(KCNT1):c.2191C>A (p.Gln731Lys)
|
rs1437258889
|
0.00001
|
NM_020822.3(KCNT1):c.2244-10C>T
|
rs758069398
|
0.00001
|
NM_020822.3(KCNT1):c.2244G>C (p.Glu748Asp)
|
rs1333549995
|
0.00001
|
NM_020822.3(KCNT1):c.2377G>A (p.Ala793Thr)
|
rs1466772062
|
0.00001
|
NM_020822.3(KCNT1):c.2431G>A (p.Gly811Ser)
|
rs748756591
|
0.00001
|
NM_020822.3(KCNT1):c.2483G>A (p.Arg828His)
|
rs747191095
|
0.00001
|
NM_020822.3(KCNT1):c.2594+6G>A
|
rs973179248
|
0.00001
|
NM_020822.3(KCNT1):c.274G>A (p.Val92Ile)
|
rs776233220
|
0.00001
|
NM_020822.3(KCNT1):c.2797C>T (p.Arg933Cys)
|
rs150395210
|
0.00001
|
NM_020822.3(KCNT1):c.285C>T (p.Asn95=)
|
rs558966732
|
0.00001
|
NM_020822.3(KCNT1):c.299G>A (p.Arg100Gln)
|
rs752032951
|
0.00001
|
NM_020822.3(KCNT1):c.3096C>T (p.Ser1032=)
|
rs1360446142
|
0.00001
|
NM_020822.3(KCNT1):c.3100G>A (p.Ala1034Thr)
|
rs779961735
|
0.00001
|
NM_020822.3(KCNT1):c.3197T>C (p.Val1066Ala)
|
rs1554780631
|
0.00001
|
NM_020822.3(KCNT1):c.3223G>A (p.Val1075Met)
|
rs771889785
|
0.00001
|
NM_020822.3(KCNT1):c.346C>T (p.Arg116Trp)
|
rs1588309625
|
0.00001
|
NM_020822.3(KCNT1):c.3508A>G (p.Met1170Val)
|
rs1834554393
|
0.00001
|
NM_020822.3(KCNT1):c.3517C>T (p.His1173Tyr)
|
rs1450163574
|
0.00001
|
NM_020822.3(KCNT1):c.3660C>G (p.His1220Gln)
|
rs868847760
|
0.00001
|
NM_020822.3(KCNT1):c.3691G>A (p.Asp1231Asn)
|
rs146193090
|
0.00001
|
NM_020822.3(KCNT1):c.3708A>C (p.Ter1236Cys)
|
rs1459930316
|
0.00001
|
NM_020822.3(KCNT1):c.398G>A (p.Arg133His)
|
rs201295824
|
0.00001
|
NM_020822.3(KCNT1):c.41G>C (p.Cys14Ser)
|
rs750374521
|
0.00001
|
NM_020822.3(KCNT1):c.453G>C (p.Gln151His)
|
rs1831337399
|
0.00001
|
NM_020822.3(KCNT1):c.567G>A (p.Leu189=)
|
rs372998864
|
0.00001
|
NM_020822.3(KCNT1):c.784C>T (p.Arg262Trp)
|
rs375711140
|
0.00001
|
NM_020822.3(KCNT1):c.928G>A (p.Val310Ile)
|
rs149436191
|
0.00001
|
NM_020822.3(KCNT1):c.1033C>A (p.Gln345Lys)
|
rs1131691442
|
|
NM_020822.3(KCNT1):c.1036-3C>T
|
|
|
NM_020822.3(KCNT1):c.1065G>A (p.Glu355=)
|
rs1832162751
|
|
NM_020822.3(KCNT1):c.1136G>T (p.Ser379Ile)
|
|
|
NM_020822.3(KCNT1):c.1147A>G (p.Ile383Val)
|
|
|
NM_020822.3(KCNT1):c.1179C>A (p.Phe393Leu)
|
rs1832174053
|
|
NM_020822.3(KCNT1):c.1183G>A (p.Ala395Thr)
|
rs1832174592
|
|
NM_020822.3(KCNT1):c.1186C>T (p.His396Tyr)
|
rs1588343193
|
|
NM_020822.3(KCNT1):c.1198C>G (p.Gln400Glu)
|
|
|
NM_020822.3(KCNT1):c.1223G>A (p.Cys408Tyr)
|
|
|
NM_020822.3(KCNT1):c.1234A>G (p.Met412Val)
|
rs988871689
|
|
NM_020822.3(KCNT1):c.1250G>A (p.Arg417His)
|
rs745965148
|
|
NM_020822.3(KCNT1):c.1253G>A (p.Arg418Lys)
|
rs886043301
|
|
NM_020822.3(KCNT1):c.1254A>C (p.Arg418Ser)
|
rs1440098446
|
|
NM_020822.3(KCNT1):c.1282C>T (p.Arg428Trp)
|
rs373755663
|
|
NM_020822.3(KCNT1):c.1300G>A (p.Gly434Ser)
|
|
|
NM_020822.3(KCNT1):c.1306G>C (p.Ala436Pro)
|
rs1832220041
|
|
NM_020822.3(KCNT1):c.1390C>T (p.Arg464Cys)
|
rs1564367281
|
|
NM_020822.3(KCNT1):c.1391G>A (p.Arg464His)
|
|
|
NM_020822.3(KCNT1):c.1401+3G>T
|
rs1564367303
|
|
NM_020822.3(KCNT1):c.1488_1490del (p.Asn496del)
|
rs2131498089
|
|
NM_020822.3(KCNT1):c.1607C>T (p.Thr536Met)
|
rs1430492627
|
|
NM_020822.3(KCNT1):c.1620-15_1620-5dup
|
rs761464076
|
|
NM_020822.3(KCNT1):c.1626del (p.Gln543fs)
|
|
|
NM_020822.3(KCNT1):c.162G>A (p.Met54Ile)
|
rs2131329345
|
|
NM_020822.3(KCNT1):c.1651C>T (p.Arg551Cys)
|
rs749316999
|
|
NM_020822.3(KCNT1):c.1652G>T (p.Arg551Leu)
|
rs567764094
|
|
NM_020822.3(KCNT1):c.1696A>G (p.Met566Val)
|
rs1832669452
|
|
NM_020822.3(KCNT1):c.173A>G (p.Asp58Gly)
|
rs1588255313
|
|
NM_020822.3(KCNT1):c.1789G>A (p.Gly597Arg)
|
|
|
NM_020822.3(KCNT1):c.1806CAA[1] (p.Asn603del)
|
rs752708934
|
|
NM_020822.3(KCNT1):c.1840C>T (p.His614Tyr)
|
rs1554775058
|
|
NM_020822.3(KCNT1):c.1858G>A (p.Asp620Asn)
|
|
|
NM_020822.3(KCNT1):c.1877A>T (p.Asn626Ile)
|
|
|
NM_020822.3(KCNT1):c.1898C>T (p.Ser633Leu)
|
rs377750450
|
|
NM_020822.3(KCNT1):c.1911C>G (p.Phe637Leu)
|
rs759819281
|
|
NM_020822.3(KCNT1):c.1921G>A (p.Glu641Lys)
|
rs1564371427
|
|
NM_020822.3(KCNT1):c.1969C>G (p.Pro657Ala)
|
rs763051647
|
|
NM_020822.3(KCNT1):c.1997T>C (p.Ile666Thr)
|
rs2131512046
|
|
NM_020822.3(KCNT1):c.2030A>G (p.Gln677Arg)
|
rs1060505000
|
|
NM_020822.3(KCNT1):c.2061_2066del (p.Gly691_Gly692del)
|
rs754629346
|
|
NM_020822.3(KCNT1):c.2116C>T (p.Arg706Trp)
|
|
|
NM_020822.3(KCNT1):c.2122C>A (p.Pro708Thr)
|
rs892635002
|
|
NM_020822.3(KCNT1):c.2151C>T (p.Ala717=)
|
rs758589013
|
|
NM_020822.3(KCNT1):c.2170_2184dup (p.Pro724_Leu728dup)
|
rs757605635
|
|
NM_020822.3(KCNT1):c.2188G>A (p.Asp730Asn)
|
rs752598622
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NM_020822.3(KCNT1):c.2188G>C (p.Asp730His)
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NM_020822.3(KCNT1):c.2197G>A (p.Glu733Lys)
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NM_020822.3(KCNT1):c.2206G>A (p.Val736Met)
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NM_020822.3(KCNT1):c.2246A>G (p.Tyr749Cys)
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NM_020822.3(KCNT1):c.2317A>G (p.Lys773Glu)
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NM_020822.3(KCNT1):c.2389_2390insTAG (p.Tyr796_Gly797insVal)
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rs2131543497
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NM_020822.3(KCNT1):c.2468C>T (p.Ala823Val)
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rs1833247433
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NM_020822.3(KCNT1):c.2470T>C (p.Tyr824His)
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NM_020822.3(KCNT1):c.2485A>G (p.Lys829Glu)
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rs2131543999
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NM_020822.3(KCNT1):c.2523-3C>T
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rs2131548258
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NM_020822.3(KCNT1):c.2523-4A>G
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NM_020822.3(KCNT1):c.256G>A (p.Val86Ile)
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rs1172819191
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NM_020822.3(KCNT1):c.2605C>G (p.Leu869Val)
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rs1564382343
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NM_020822.3(KCNT1):c.2615G>A (p.Cys872Tyr)
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NM_020822.3(KCNT1):c.2641G>T (p.Val881Leu)
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rs1564382426
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NM_020822.3(KCNT1):c.2653A>G (p.Lys885Glu)
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rs974652934
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NM_020822.3(KCNT1):c.2770_2771delinsG (p.Pro924fs)
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rs1554778336
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NM_020822.3(KCNT1):c.2809A>G (p.Ser937Gly)
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rs1554778379
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NM_020822.3(KCNT1):c.280G>A (p.Glu94Lys)
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NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln)
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NM_020822.3(KCNT1):c.2861C>T (p.Ser954Phe)
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NM_020822.3(KCNT1):c.2869G>T (p.Ala957Ser)
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rs1277322108
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NM_020822.3(KCNT1):c.2882G>A (p.Arg961His)
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rs200694691
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NM_020822.3(KCNT1):c.2896G>A (p.Ala966Thr)
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NM_020822.3(KCNT1):c.2913C>T (p.Ser971=)
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rs1340916778
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NM_020822.3(KCNT1):c.2957_2958insT (p.Tyr987fs)
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rs886042435
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NM_020822.3(KCNT1):c.2977C>A (p.Arg993=)
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rs368252006
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NM_020822.3(KCNT1):c.298C>T (p.Arg100Trp)
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rs1831067002
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NM_020822.3(KCNT1):c.3002C>A (p.Thr1001Lys)
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rs372775166
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NM_020822.3(KCNT1):c.3027+12T>C
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rs886043446
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NM_020822.3(KCNT1):c.3050T>C (p.Leu1017Pro)
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rs1450164108
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NM_020822.3(KCNT1):c.3120C>T (p.Ile1040=)
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rs866628924
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NM_020822.3(KCNT1):c.3156+8G>A
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rs764262230
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NM_020822.3(KCNT1):c.3178-5C>T
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rs753073468
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NM_020822.3(KCNT1):c.3188C>T (p.Ser1063Leu)
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rs1161728281
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NM_020822.3(KCNT1):c.3217C>T (p.Arg1073Trp)
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rs768536067
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NM_020822.3(KCNT1):c.3236G>A (p.Trp1079Ter)
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NM_020822.3(KCNT1):c.323A>C (p.Asn108Thr)
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NM_020822.3(KCNT1):c.32G>C (p.Gly11Ala)
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NM_020822.3(KCNT1):c.3316C>T (p.Arg1106Trp)
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rs542409033
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NM_020822.3(KCNT1):c.3317G>C (p.Arg1106Pro)
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rs561255614
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NM_020822.3(KCNT1):c.3361C>T (p.Pro1121Ser)
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NM_020822.3(KCNT1):c.3417C>A (p.Ser1139Arg)
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NM_020822.3(KCNT1):c.3425G>C (p.Arg1142Pro)
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NM_020822.3(KCNT1):c.3436C>T (p.Arg1146Cys)
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rs1471022566
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NM_020822.3(KCNT1):c.3439dup (p.Gln1147fs)
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NM_020822.3(KCNT1):c.3442G>A (p.Glu1148Lys)
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NM_020822.3(KCNT1):c.3460_3461delinsGT (p.Lys1154Val)
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rs1834060931
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NM_020822.3(KCNT1):c.3467G>A (p.Arg1156His)
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rs867696317
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NM_020822.3(KCNT1):c.3471G>A (p.Met1157Ile)
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rs1085307807
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NM_020822.3(KCNT1):c.3502+1617C>G
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rs1588412829
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NM_020822.3(KCNT1):c.3516CCA[3] (p.His1173dup)
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rs1290067674
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NM_020822.3(KCNT1):c.3559G>C (p.Asp1187His)
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rs142875411
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NM_020822.3(KCNT1):c.357C>A (p.Asn119Lys)
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rs1831125430
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NM_020822.3(KCNT1):c.3583A>C (p.Ile1195Leu)
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NM_020822.3(KCNT1):c.3584T>C (p.Ile1195Thr)
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rs777322392
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NM_020822.3(KCNT1):c.3623C>T (p.Ala1208Val)
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NM_020822.3(KCNT1):c.3629G>A (p.Ser1210Asn)
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rs1834581421
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NM_020822.3(KCNT1):c.3641G>C (p.Arg1214Pro)
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NM_020822.3(KCNT1):c.3653G>A (p.Cys1218Tyr)
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rs758465935
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NM_020822.3(KCNT1):c.3688C>G (p.Arg1230Gly)
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NM_020822.3(KCNT1):c.3697A>G (p.Thr1233Ala)
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rs767191241
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NM_020822.3(KCNT1):c.3700_3701del (p.Gln1234fs)
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rs1834589533
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NM_020822.3(KCNT1):c.376A>G (p.Thr126Ala)
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NM_020822.3(KCNT1):c.385C>A (p.Leu129Ile)
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rs1402206752
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NM_020822.3(KCNT1):c.385C>G (p.Leu129Val)
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rs1402206752
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NM_020822.3(KCNT1):c.434+1G>T
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rs2131411525
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NM_020822.3(KCNT1):c.510G>A (p.Val170=)
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rs1588317755
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NM_020822.3(KCNT1):c.572C>G (p.Thr191Arg)
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rs1429039180
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NM_020822.3(KCNT1):c.592A>G (p.Ser198Gly)
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rs2131434975
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NM_020822.3(KCNT1):c.643G>C (p.Glu215Gln)
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NM_020822.3(KCNT1):c.670A>G (p.Ile224Val)
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rs1554770959
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NM_020822.3(KCNT1):c.673A>G (p.Thr225Ala)
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rs1554770961
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NM_020822.3(KCNT1):c.675+4G>C
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rs794727929
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NM_020822.3(KCNT1):c.780C>G (p.Ile260Met)
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rs1831666807
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NM_020822.3(KCNT1):c.79T>G (p.Phe27Val)
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NM_020822.3(KCNT1):c.820C>G (p.Leu274Val)
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NM_020822.3(KCNT1):c.82_85delinsC (p.Glu28_Phe29delinsLeu)
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rs1554760875
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NM_020822.3(KCNT1):c.841C>T (p.Leu281Phe)
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rs1057522914
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NM_020822.3(KCNT1):c.855-10G>A
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rs1057521940
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NM_020822.3(KCNT1):c.880C>G (p.Arg294Gly)
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NM_020822.3(KCNT1):c.940A>G (p.Thr314Ala)
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NM_020822.3(KCNT1):c.968A>G (p.Lys323Arg)
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rs978227077
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NM_020822.3(KCNT1):c.977C>T (p.Pro326Leu)
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rs777106178
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Single allele
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