|
NM_000742.4(CHRNA2):c.-565T>A
|
rs879442926
|
0.04553
|
|
NM_000748.3(CHRNB2):c.1191G>C (p.Gln397His)
|
rs55685423
|
0.00688
|
|
NM_000742.4(CHRNA2):c.1434C>A (p.Asp478Glu)
|
rs56344740
|
0.00307
|
|
NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln)
|
rs151272083
|
0.00162
|
|
NM_000744.7(CHRNA4):c.1460G>A (p.Arg487Gln)
|
rs121912280
|
0.00152
|
|
NM_000742.4(CHRNA2):c.*1603C>A
|
rs535057169
|
0.00064
|
|
NM_000742.4(CHRNA2):c.383G>A (p.Gly128Asp)
|
rs138682847
|
0.00058
|
|
NM_000744.7(CHRNA4):c.1006C>T (p.Arg336Cys)
|
rs56175056
|
0.00045
|
|
NM_000744.7(CHRNA4):c.274G>C (p.Glu92Gln)
|
rs146651027
|
0.00029
|
|
NM_020822.3(KCNT1):c.3496G>A (p.Gly1166Ser)
|
rs1201438079
|
0.00026
|
|
NM_000742.4(CHRNA2):c.*386G>T
|
rs542172546
|
0.00025
|
|
NM_000744.7(CHRNA4):c.1169G>A (p.Gly390Glu)
|
rs121912268
|
0.00024
|
|
NM_000744.7(CHRNA4):c.1448G>A (p.Arg483Gln)
|
rs55855125
|
0.00016
|
|
NM_020822.3(KCNT1):c.2595-9C>T
|
rs369966222
|
0.00015
|
|
NM_000742.4(CHRNA2):c.-544C>T
|
rs886062851
|
0.00014
|
|
NM_000744.7(CHRNA4):c.1459C>T (p.Arg487Trp)
|
rs200200279
|
0.00013
|
|
NM_020822.3(KCNT1):c.3598C>T (p.Arg1200Cys)
|
rs372028322
|
0.00012
|
|
NM_020822.3(KCNT1):c.1770G>A (p.Lys590=)
|
rs745575483
|
0.00011
|
|
NM_000742.4(CHRNA2):c.*997C>G
|
rs539161001
|
0.00010
|
|
NM_000742.4(CHRNA2):c.182G>A (p.Arg61Gln)
|
rs568479156
|
0.00010
|
|
NM_000744.7(CHRNA4):c.358C>T (p.Arg120Trp)
|
rs200010568
|
0.00010
|
|
NM_000748.3(CHRNB2):c.1046T>C (p.Met349Thr)
|
rs141735618
|
0.00010
|
|
NM_000744.7(CHRNA4):c.1316A>C (p.Lys439Thr)
|
rs796052318
|
0.00009
|
|
NM_000744.7(CHRNA4):c.1861C>A (p.Pro621Thr)
|
rs199852690
|
0.00009
|
|
NM_000748.3(CHRNB2):c.1084C>T (p.Arg362Cys)
|
rs199928622
|
0.00009
|
|
NM_020822.3(KCNT1):c.1718G>A (p.Arg573His)
|
rs575162600
|
0.00008
|
|
NM_020822.3(KCNT1):c.3588C>T (p.Val1196=)
|
rs758308334
|
0.00008
|
|
NM_000744.7(CHRNA4):c.1106G>A (p.Arg369Gln)
|
rs200007766
|
0.00007
|
|
NM_020822.3(KCNT1):c.2482C>T (p.Arg828Cys)
|
rs370800291
|
0.00007
|
|
NM_000742.4(CHRNA2):c.-136-14T>C
|
rs886062847
|
0.00006
|
|
NM_000742.4(CHRNA2):c.-78C>G
|
rs886062845
|
0.00006
|
|
NM_000744.7(CHRNA4):c.138C>T (p.Ser46=)
|
rs200705061
|
0.00006
|
|
NM_000744.7(CHRNA4):c.1430C>T (p.Ala477Val)
|
rs200243948
|
0.00006
|
|
NM_000744.7(CHRNA4):c.1535C>G (p.Ser512Cys)
|
rs754133410
|
0.00006
|
|
NM_000744.7(CHRNA4):c.1583C>T (p.Pro528Leu)
|
rs201739273
|
0.00006
|
|
NM_000744.7(CHRNA4):c.20G>C (p.Gly7Ala)
|
rs1025632281
|
0.00006
|
|
NM_000744.7(CHRNA4):c.553G>A (p.Asp185Asn)
|
rs200979226
|
0.00006
|
|
NM_000748.3(CHRNB2):c.1103G>T (p.Arg368Leu)
|
rs202114705
|
0.00006
|
|
NM_020822.3(KCNT1):c.2630C>T (p.Ala877Val)
|
rs774033346
|
0.00006
|
|
NM_020822.3(KCNT1):c.2674G>A (p.Glu892Lys)
|
rs376757326
|
0.00006
|
|
NM_020822.3(KCNT1):c.3341G>A (p.Arg1114Gln)
|
rs758311066
|
0.00006
|
|
NM_020822.3(KCNT1):c.3575C>T (p.Pro1192Leu)
|
rs147654995
|
0.00006
|
|
NM_000742.4(CHRNA2):c.1464G>A (p.Ser488=)
|
rs796052305
|
0.00005
|
|
NM_000744.7(CHRNA4):c.1759-4G>A
|
rs374354698
|
0.00005
|
|
NM_000748.3(CHRNB2):c.1273C>T (p.Arg425Trp)
|
rs77710036
|
0.00005
|
|
NM_020822.3(KCNT1):c.110+1G>C
|
rs780331569
|
0.00005
|
|
NM_020822.3(KCNT1):c.1510+4C>T
|
rs554828530
|
0.00005
|
|
NM_020822.3(KCNT1):c.3298G>A (p.Ala1100Thr)
|
rs769422518
|
0.00005
|
|
NM_020822.3(KCNT1):c.3640C>T (p.Arg1214Trp)
|
rs150447764
|
0.00005
|
|
NM_000742.4(CHRNA2):c.*159G>A
|
rs1026564153
|
0.00004
|
|
NM_000742.4(CHRNA2):c.*1752G>A
|
rs1040675339
|
0.00004
|
|
NM_000742.4(CHRNA2):c.*1775C>T
|
rs773958762
|
0.00004
|
|
NM_000742.4(CHRNA2):c.-537C>T
|
rs564405421
|
0.00004
|
|
NM_000742.4(CHRNA2):c.1064G>A (p.Arg355His)
|
rs368791756
|
0.00004
|
|
NM_000742.4(CHRNA2):c.1073G>T (p.Ser358Ile)
|
rs74341575
|
0.00004
|
|
NM_000742.4(CHRNA2):c.1198T>A (p.Ser400Thr)
|
rs771693410
|
0.00004
|
|
NM_000742.4(CHRNA2):c.869C>T (p.Pro290Leu)
|
rs767619637
|
0.00004
|
|
NM_000742.4(CHRNA2):c.905C>T (p.Ser302Leu)
|
rs367914235
|
0.00004
|
|
NM_000744.7(CHRNA4):c.1522G>A (p.Gly508Ser)
|
rs111286066
|
0.00004
|
|
NM_000744.7(CHRNA4):c.1625C>T (p.Pro542Leu)
|
rs121912281
|
0.00004
|
|
NM_000744.7(CHRNA4):c.1637T>G (p.Val546Gly)
|
rs764888239
|
0.00004
|
|
NM_000744.7(CHRNA4):c.514C>T (p.Gln172Ter)
|
rs112748821
|
0.00004
|
|
NM_000744.7(CHRNA4):c.585C>G (p.His195Gln)
|
rs121912248
|
0.00004
|
|
NM_000744.7(CHRNA4):c.979G>A (p.Val327Met)
|
rs201841018
|
0.00004
|
|
NM_000748.3(CHRNB2):c.1069G>T (p.Ala357Ser)
|
rs1421654764
|
0.00004
|
|
NM_000748.3(CHRNB2):c.1117G>A (p.Ala373Thr)
|
rs778714852
|
0.00004
|
|
NM_000748.3(CHRNB2):c.122G>A (p.Arg41His)
|
rs199999862
|
0.00004
|
|
NM_000748.3(CHRNB2):c.1315C>T (p.Arg439Trp)
|
rs945492622
|
0.00004
|
|
NM_000748.3(CHRNB2):c.538C>T (p.Arg180Cys)
|
rs1469333218
|
0.00004
|
|
NM_000748.3(CHRNB2):c.695G>A (p.Arg232His)
|
rs79646221
|
0.00004
|
|
NM_000748.3(CHRNB2):c.983C>T (p.Thr328Met)
|
rs145893879
|
0.00004
|
|
NM_020822.3(KCNT1):c.1783C>T (p.Leu595Phe)
|
rs950983477
|
0.00004
|
|
NM_020822.3(KCNT1):c.1996A>T (p.Ile666Phe)
|
rs376231681
|
0.00004
|
|
NM_020822.3(KCNT1):c.2270C>T (p.Ser757Leu)
|
rs775923151
|
0.00004
|
|
NM_020822.3(KCNT1):c.3059G>A (p.Arg1020His)
|
rs373365707
|
0.00004
|
|
NM_020822.3(KCNT1):c.3286G>A (p.Gly1096Ser)
|
rs748115007
|
0.00004
|
|
NM_020822.3(KCNT1):c.3505G>A (p.Glu1169Lys)
|
rs768746178
|
0.00004
|
|
NM_020822.3(KCNT1):c.3563C>T (p.Thr1188Met)
|
rs370090905
|
0.00004
|
|
NM_020822.3(KCNT1):c.3679C>T (p.Pro1227Ser)
|
rs779262121
|
0.00004
|
|
NM_020822.3(KCNT1):c.53G>T (p.Arg18Leu)
|
rs753714293
|
0.00004
|
|
NM_000742.4(CHRNA2):c.*1265T>G
|
rs973667975
|
0.00003
|
|
NM_000742.4(CHRNA2):c.1144C>T (p.Arg382Trp)
|
rs188098799
|
0.00003
|
|
NM_000742.4(CHRNA2):c.1275T>A (p.Cys425Ter)
|
rs530383631
|
0.00003
|
|
NM_000742.4(CHRNA2):c.1352C>T (p.Ala451Val)
|
rs753892989
|
0.00003
|
|
NM_000742.4(CHRNA2):c.1418T>G (p.Val473Gly)
|
rs150254933
|
0.00003
|
|
NM_000742.4(CHRNA2):c.1465-2A>G
|
rs1279319311
|
0.00003
|
|
NM_000742.4(CHRNA2):c.1465-3C>T
|
rs375469296
|
0.00003
|
|
NM_000742.4(CHRNA2):c.161C>T (p.Ser54Leu)
|
rs761493925
|
0.00003
|
|
NM_000742.4(CHRNA2):c.227C>T (p.Pro76Leu)
|
rs199810678
|
0.00003
|
|
NM_000742.4(CHRNA2):c.482C>T (p.Thr161Ile)
|
rs376045534
|
0.00003
|
|
NM_000742.4(CHRNA2):c.697A>C (p.Ile233Leu)
|
rs780491416
|
0.00003
|
|
NM_000742.4(CHRNA2):c.883G>A (p.Glu295Lys)
|
rs139727115
|
0.00003
|
|
NM_000744.7(CHRNA4):c.109G>A (p.Glu37Lys)
|
rs778087682
|
0.00003
|
|
NM_000744.7(CHRNA4):c.1327C>G (p.His443Asp)
|
rs796052319
|
0.00003
|
|
NM_000744.7(CHRNA4):c.1388C>G (p.Ala463Gly)
|
rs1381116077
|
0.00003
|
|
NM_000744.7(CHRNA4):c.1697G>A (p.Arg566Gln)
|
rs200810080
|
0.00003
|
|
NM_000744.7(CHRNA4):c.193C>T (p.Arg65Cys)
|
rs748440038
|
0.00003
|
|
NM_000744.7(CHRNA4):c.817G>A (p.Glu273Lys)
|
rs758885593
|
0.00003
|
|
NM_000748.3(CHRNB2):c.1061A>C (p.His354Pro)
|
rs201793956
|
0.00003
|
|
NM_000748.3(CHRNB2):c.1226C>T (p.Pro409Leu)
|
rs1303546196
|
0.00003
|
|
NM_000748.3(CHRNB2):c.139C>T (p.Arg47Cys)
|
rs746480833
|
0.00003
|
|
NM_000748.3(CHRNB2):c.316C>T (p.Arg106Trp)
|
rs372273025
|
0.00003
|
|
NM_000748.3(CHRNB2):c.460G>A (p.Ala154Thr)
|
rs769929506
|
0.00003
|
|
NM_020822.3(KCNT1):c.1110G>A (p.Thr370=)
|
rs140367649
|
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.2050A>C (p.Thr684Pro)
|
rs756570347
|
0.00003
|
|
NM_020822.3(KCNT1):c.2117G>A (p.Arg706Gln)
|
rs761289867
|
0.00003
|
|
NM_020822.3(KCNT1):c.2119C>T (p.Arg707Trp)
|
rs568144711
|
0.00003
|
|
NM_020822.3(KCNT1):c.2176G>A (p.Asp726Asn)
|
rs1367605908
|
0.00003
|
|
NM_020822.3(KCNT1):c.2201A>G (p.Asp734Gly)
|
rs1360863995
|
0.00003
|
|
NM_020822.3(KCNT1):c.2221G>A (p.Asp741Asn)
|
rs375403065
|
0.00003
|
|
NM_020822.3(KCNT1):c.2224G>A (p.Glu742Lys)
|
rs749302270
|
0.00003
|
|
NM_020822.3(KCNT1):c.3149C>T (p.Thr1050Ile)
|
rs1313669242
|
0.00003
|
|
NM_020822.3(KCNT1):c.3671C>T (p.Ser1224Phe)
|
rs769083534
|
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.880C>T (p.Arg294Trp)
|
rs369101729
|
0.00003
|
|
NM_000742.4(CHRNA2):c.-137+11T>C
|
rs886062848
|
0.00002
|
|
NM_000742.4(CHRNA2):c.-471G>A
|
rs886062850
|
0.00002
|
|
NM_000742.4(CHRNA2):c.1019C>T (p.Thr340Ile)
|
rs758255768
|
0.00002
|
|
NM_000742.4(CHRNA2):c.1037C>A (p.Thr346Asn)
|
rs767656036
|
0.00002
|
|
NM_000742.4(CHRNA2):c.1052A>G (p.Asn351Ser)
|
rs770305730
|
0.00002
|
|
NM_000742.4(CHRNA2):c.1127G>A (p.Arg376Gln)
|
rs374512926
|
0.00002
|
|
NM_000742.4(CHRNA2):c.1223T>C (p.Val408Ala)
|
rs747909980
|
0.00002
|
|
NM_000742.4(CHRNA2):c.1528A>G (p.Ile510Val)
|
rs528528743
|
0.00002
|
|
NM_000742.4(CHRNA2):c.1531G>A (p.Val511Ile)
|
rs796052306
|
0.00002
|
|
NM_000742.4(CHRNA2):c.294+5G>A
|
rs774398407
|
0.00002
|
|
NM_000742.4(CHRNA2):c.394T>A (p.Ser132Thr)
|
rs775662796
|
0.00002
|
|
NM_000742.4(CHRNA2):c.417G>T (p.Met139Ile)
|
rs748755253
|
0.00002
|
|
NM_000742.4(CHRNA2):c.432C>A (p.Asp144Glu)
|
rs796052297
|
0.00002
|
|
NM_000742.4(CHRNA2):c.688G>A (p.Glu230Lys)
|
rs747493891
|
0.00002
|
|
NM_000742.4(CHRNA2):c.880G>A (p.Gly294Ser)
|
rs1039488837
|
0.00002
|
|
NM_000744.7(CHRNA4):c.1054G>A (p.Val352Met)
|
rs121912264
|
0.00002
|
|
NM_000744.7(CHRNA4):c.1082C>T (p.Pro361Leu)
|
rs267606048
|
0.00002
|
|
NM_000744.7(CHRNA4):c.1109G>A (p.Arg370Gln)
|
rs121912267
|
0.00002
|
|
NM_000744.7(CHRNA4):c.118C>T (p.Leu40Phe)
|
rs1568819698
|
0.00002
|
|
NM_000744.7(CHRNA4):c.13G>A (p.Gly5Ser)
|
rs1043176387
|
0.00002
|
|
NM_000744.7(CHRNA4):c.1412T>C (p.Met471Thr)
|
rs1317529556
|
0.00002
|
|
NM_000744.7(CHRNA4):c.1537C>T (p.Arg513Cys)
|
rs201864944
|
0.00002
|
|
NM_000744.7(CHRNA4):c.181G>A (p.Val61Met)
|
rs150451372
|
0.00002
|
|
NM_000744.7(CHRNA4):c.228+10G>T
|
rs759148756
|
0.00002
|
|
NM_000744.7(CHRNA4):c.334C>T (p.Arg112Cys)
|
rs375654386
|
0.00002
|
|
NM_000744.7(CHRNA4):c.362C>T (p.Pro121Leu)
|
rs377114983
|
0.00002
|
|
NM_000744.7(CHRNA4):c.640G>A (p.Ala214Thr)
|
rs758348186
|
0.00002
|
|
NM_000744.7(CHRNA4):c.751A>G (p.Ile251Val)
|
rs776882201
|
0.00002
|
|
NM_000744.7(CHRNA4):c.754A>G (p.Ile252Val)
|
rs201865234
|
0.00002
|
|
NM_000744.7(CHRNA4):c.808G>A (p.Glu270Lys)
|
rs765977956
|
0.00002
|
|
NM_000748.3(CHRNB2):c.1034C>T (p.Ala345Val)
|
rs141511378
|
0.00002
|
|
NM_000748.3(CHRNB2):c.1114G>A (p.Gly372Ser)
|
rs753731408
|
0.00002
|
|
NM_000748.3(CHRNB2):c.1314G>A (p.Met438Ile)
|
rs200910048
|
0.00002
|
|
NM_000748.3(CHRNB2):c.329A>C (p.Lys110Thr)
|
rs199885651
|
0.00002
|
|
NM_000748.3(CHRNB2):c.640G>A (p.Glu214Lys)
|
rs780175030
|
0.00002
|
|
NM_000748.3(CHRNB2):c.734del (p.Cys245fs)
|
rs780184576
|
0.00002
|
|
NM_020822.3(KCNT1):c.1067G>A (p.Arg356Gln)
|
rs758152252
|
0.00002
|
|
NM_020822.3(KCNT1):c.1103C>T (p.Ala368Val)
|
rs928555901
|
0.00002
|
|
NM_020822.3(KCNT1):c.1192C>T (p.Arg398Trp)
|
rs779209462
|
0.00002
|
|
NM_020822.3(KCNT1):c.1328T>C (p.Met443Thr)
|
rs763557773
|
0.00002
|
|
NM_020822.3(KCNT1):c.1465G>A (p.Val489Ile)
|
rs368322298
|
0.00002
|
|
NM_020822.3(KCNT1):c.1663C>T (p.Arg555Cys)
|
rs774249834
|
0.00002
|
|
NM_020822.3(KCNT1):c.1717C>T (p.Arg573Cys)
|
rs557219607
|
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.1940C>T (p.Ala647Val)
|
rs550751778
|
0.00002
|
|
NM_020822.3(KCNT1):c.1955G>T (p.Gly652Val)
|
rs536588045
|
0.00002
|
|
NM_020822.3(KCNT1):c.2044C>T (p.Arg682Trp)
|
rs750994724
|
0.00002
|
|
NM_020822.3(KCNT1):c.2071G>A (p.Gly691Arg)
|
rs769596439
|
0.00002
|
|
NM_020822.3(KCNT1):c.2199G>T (p.Glu733Asp)
|
rs772800657
|
0.00002
|
|
NM_020822.3(KCNT1):c.2213C>T (p.Pro738Leu)
|
rs760032575
|
0.00002
|
|
NM_020822.3(KCNT1):c.254+6G>C
|
rs923032212
|
0.00002
|
|
NM_020822.3(KCNT1):c.3158C>A (p.Pro1053His)
|
rs776239808
|
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.3409C>T (p.Arg1137Cys)
|
rs779430817
|
0.00002
|
|
NM_020822.3(KCNT1):c.3451G>A (p.Glu1151Lys)
|
rs767450181
|
0.00002
|
|
NM_020822.3(KCNT1):c.3488C>T (p.Pro1163Leu)
|
rs1439404936
|
0.00002
|
|
NM_020822.3(KCNT1):c.3538G>A (p.Val1180Ile)
|
rs754383898
|
0.00002
|
|
NM_020822.3(KCNT1):c.3599G>A (p.Arg1200His)
|
rs780857518
|
0.00002
|
|
NM_020822.3(KCNT1):c.3688C>T (p.Arg1230Cys)
|
rs771068120
|
0.00002
|
|
NM_020822.3(KCNT1):c.491+3G>A
|
rs943935808
|
0.00002
|
|
NM_020822.3(KCNT1):c.712G>A (p.Val238Ile)
|
rs760870883
|
0.00002
|
|
NM_020822.3(KCNT1):c.889G>A (p.Glu297Lys)
|
rs146070496
|
0.00002
|
|
NM_000742.4(CHRNA2):c.*1096C>G
|
rs886062842
|
0.00001
|
|
NM_000742.4(CHRNA2):c.*133G>T
|
rs1395465476
|
0.00001
|
|
NM_000742.4(CHRNA2):c.*1845A>T
|
rs377169301
|
0.00001
|
|
NM_000742.4(CHRNA2):c.1007T>C (p.Met336Thr)
|
rs754567543
|
0.00001
|
|
NM_000742.4(CHRNA2):c.100C>G (p.Pro34Ala)
|
rs538453326
|
0.00001
|
|
NM_000742.4(CHRNA2):c.1015G>A (p.Val339Ile)
|
rs1064797343
|
0.00001
|
|
NM_000742.4(CHRNA2):c.1021C>G (p.Leu341Val)
|
rs750301958
|
0.00001
|
|
NM_000742.4(CHRNA2):c.1030G>A (p.Val344Ile)
|
rs567044128
|
0.00001
|
|
NM_000742.4(CHRNA2):c.106G>T (p.Ala36Ser)
|
rs771977388
|
0.00001
|
|
NM_000742.4(CHRNA2):c.1076C>T (p.Thr359Ile)
|
rs888935641
|
0.00001
|
|
NM_000742.4(CHRNA2):c.107C>T (p.Ala36Val)
|
rs1313467019
|
0.00001
|
|
NM_000742.4(CHRNA2):c.1095G>A (p.Trp365Ter)
|
rs753568467
|
0.00001
|
|
NM_000742.4(CHRNA2):c.1103G>T (p.Gly368Val)
|
rs765772636
|
0.00001
|
|
NM_000742.4(CHRNA2):c.1151C>T (p.Pro384Leu)
|
rs777510962
|
0.00001
|
|
NM_000742.4(CHRNA2):c.1181G>A (p.Arg394His)
|
rs761054762
|
0.00001
|
|
NM_000742.4(CHRNA2):c.119C>T (p.Pro40Leu)
|
rs745670660
|
0.00001
|
|
NM_000742.4(CHRNA2):c.1218C>G (p.Ser406Arg)
|
rs749199596
|
0.00001
|
|
NM_000742.4(CHRNA2):c.1231G>T (p.Glu411Ter)
|
rs1328911807
|
0.00001
|
|
NM_000742.4(CHRNA2):c.1283A>C (p.His428Pro)
|
rs1464665549
|
0.00001
|
|
NM_000742.4(CHRNA2):c.1318G>A (p.Gly440Ser)
|
rs1405035752
|
0.00001
|
|
NM_000742.4(CHRNA2):c.1331C>G (p.Ser444Cys)
|
rs772465304
|
0.00001
|
|
NM_000742.4(CHRNA2):c.1372G>A (p.Gly458Ser)
|
rs757019076
|
0.00001
|
|
NM_000742.4(CHRNA2):c.1373G>C (p.Gly458Ala)
|
rs751242542
|
0.00001
|
|
NM_000742.4(CHRNA2):c.1441C>T (p.Arg481Trp)
|
rs369803320
|
0.00001
|
|
NM_000742.4(CHRNA2):c.1460C>T (p.Ser487Phe)
|
rs994299183
|
0.00001
|
|
NM_000742.4(CHRNA2):c.1463C>T (p.Ser488Leu)
|
rs866092045
|
0.00001
|
|
NM_000742.4(CHRNA2):c.1468A>G (p.Lys490Glu)
|
rs773515773
|
0.00001
|
|
NM_000742.4(CHRNA2):c.1481A>G (p.Lys494Arg)
|
rs762003141
|
0.00001
|
|
NM_000742.4(CHRNA2):c.1516T>A (p.Trp506Arg)
|
rs1012797739
|
0.00001
|
|
NM_000742.4(CHRNA2):c.169G>A (p.Glu57Lys)
|
rs139552324
|
0.00001
|
|
NM_000742.4(CHRNA2):c.214C>T (p.Arg72Cys)
|
rs201890355
|
0.00001
|
|
NM_000742.4(CHRNA2):c.260G>A (p.Arg87His)
|
rs532212433
|
0.00001
|
|
NM_000742.4(CHRNA2):c.322A>G (p.Asn108Asp)
|
rs913563840
|
0.00001
|
|
NM_000742.4(CHRNA2):c.339+10C>A
|
rs746630071
|
0.00001
|
|
NM_000742.4(CHRNA2):c.362G>T (p.Arg121Leu)
|
rs752422797
|
0.00001
|
|
NM_000742.4(CHRNA2):c.385A>G (p.Asn129Asp)
|
rs1418872943
|
0.00001
|
|
NM_000742.4(CHRNA2):c.402G>C (p.Arg134Ser)
|
rs773956983
|
0.00001
|
|
NM_000742.4(CHRNA2):c.430G>A (p.Asp144Asn)
|
rs371067379
|
0.00001
|
|
NM_000742.4(CHRNA2):c.431A>G (p.Asp144Gly)
|
rs748032811
|
0.00001
|
|
NM_000742.4(CHRNA2):c.443A>G (p.Tyr148Cys)
|
rs758688566
|
0.00001
|
|
NM_000742.4(CHRNA2):c.449+3A>T
|
rs750588205
|
0.00001
|
|
NM_000742.4(CHRNA2):c.503C>T (p.Thr168Met)
|
rs766076722
|
0.00001
|
|
NM_000742.4(CHRNA2):c.577G>A (p.Asp193Asn)
|
rs373358886
|
0.00001
|
|
NM_000742.4(CHRNA2):c.593A>T (p.Lys198Met)
|
rs1488678087
|
0.00001
|
|
NM_000742.4(CHRNA2):c.595A>G (p.Met199Val)
|
rs1064793314
|
0.00001
|
|
NM_000742.4(CHRNA2):c.670G>A (p.Asp224Asn)
|
rs781326114
|
0.00001
|
|
NM_000742.4(CHRNA2):c.700G>A (p.Val234Ile)
|
rs758793756
|
0.00001
|
|
NM_000742.4(CHRNA2):c.724A>G (p.Ser242Gly)
|
rs544814869
|
0.00001
|
|
NM_000742.4(CHRNA2):c.729G>C (p.Lys243Asn)
|
rs763633128
|
0.00001
|
|
NM_000742.4(CHRNA2):c.752T>C (p.Ile251Thr)
|
rs1255648133
|
0.00001
|
|
NM_000742.4(CHRNA2):c.767C>A (p.Thr256Asn)
|
rs1586390822
|
0.00001
|
|
NM_000742.4(CHRNA2):c.787C>T (p.Arg263Trp)
|
rs376807512
|
0.00001
|
|
NM_000742.4(CHRNA2):c.810C>G (p.Ile270Met)
|
rs892421066
|
0.00001
|
|
NM_000742.4(CHRNA2):c.835A>G (p.Ile279Val)
|
rs1812595253
|
0.00001
|
|
NM_000742.4(CHRNA2):c.91C>T (p.Arg31Cys)
|
rs764887214
|
0.00001
|
|
NM_000742.4(CHRNA2):c.925G>A (p.Val309Ile)
|
rs755014350
|
0.00001
|
|
NM_000742.4(CHRNA2):c.957G>A (p.Pro319=)
|
rs375239013
|
0.00001
|
|
NM_000742.4(CHRNA2):c.965C>T (p.Ser322Leu)
|
rs775592017
|
0.00001
|
|
NM_000742.4(CHRNA2):c.985G>A (p.Gly329Ser)
|
rs56371471
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1001C>T (p.Ser334Leu)
|
rs121912262
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1029G>C (p.Trp343Cys)
|
rs1234808455
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1034G>T (p.Arg345Leu)
|
rs200666489
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1057C>A (p.Pro353Thr)
|
rs201052218
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1060C>T (p.Arg354Cys)
|
rs758534439
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1077G>C (p.Lys359Asn)
|
rs1292158071
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1105C>T (p.Arg369Trp)
|
rs201224423
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1117G>A (p.Glu373Lys)
|
rs1064794565
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1184C>T (p.Thr395Met)
|
rs121912269
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1208C>T (p.Pro403Leu)
|
rs766143571
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1249G>A (p.Glu417Lys)
|
rs369269532
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1252C>T (p.Pro418Ser)
|
rs1412148347
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1265G>A (p.Cys422Tyr)
|
rs121912273
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1277C>T (p.Ser426Phe)
|
rs1064794408
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1319C>T (p.Ala440Val)
|
rs374914461
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1354C>T (p.Pro452Ser)
|
rs199914663
|
0.00001
|
|
NM_000744.7(CHRNA4):c.135C>G (p.Phe45Leu)
|
rs766240756
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1369G>C (p.Ala457Pro)
|
rs753598324
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1378C>G (p.Leu460Val)
|
rs1347805541
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1432G>T (p.Val478Leu)
|
rs757163324
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1447C>T (p.Arg483Trp)
|
rs998924085
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1495G>A (p.Ala499Thr)
|
rs150336658
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1498C>T (p.Pro500Ser)
|
rs770800835
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1526C>T (p.Ala509Val)
|
rs1256537631
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1532C>T (p.Ala511Val)
|
rs368476334
|
0.00001
|
|
NM_000744.7(CHRNA4):c.158G>A (p.Arg53Gln)
|
rs1286318558
|
0.00001
|
|
NM_000744.7(CHRNA4):c.163G>A (p.Val55Met)
|
rs1349610263
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1652C>T (p.Thr551Ile)
|
rs79438238
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1670A>C (p.His557Pro)
|
rs1282336623
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1696C>T (p.Arg566Trp)
|
rs201674914
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1720A>G (p.Ile574Val)
|
rs748328796
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1741G>A (p.Glu581Lys)
|
rs752289948
|
0.00001
|
|
NM_000744.7(CHRNA4):c.176C>T (p.Ser59Leu)
|
rs775143571
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1780G>A (p.Val594Met)
|
rs370887602
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1786A>G (p.Met596Val)
|
rs200698041
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1799G>A (p.Arg600His)
|
rs752686095
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1859C>T (p.Pro620Leu)
|
rs754340834
|
0.00001
|
|
NM_000744.7(CHRNA4):c.190G>A (p.Val64Ile)
|
rs756367182
|
0.00001
|
|
NM_000744.7(CHRNA4):c.212C>T (p.Ala71Val)
|
rs753677594
|
0.00001
|
|
NM_000744.7(CHRNA4):c.226G>A (p.Val76Met)
|
rs201115841
|
0.00001
|
|
NM_000744.7(CHRNA4):c.228+6T>C
|
rs367917715
|
0.00001
|
|
NM_000744.7(CHRNA4):c.229G>A (p.Asp77Asn)
|
rs1204737071
|
0.00001
|
|
NM_000744.7(CHRNA4):c.274-1G>A
|
rs1331861720
|
0.00001
|
|
NM_000744.7(CHRNA4):c.326C>T (p.Thr109Ile)
|
rs768527293
|
0.00001
|
|
NM_000744.7(CHRNA4):c.367A>G (p.Ile123Val)
|
rs1360629320
|
0.00001
|
|
NM_000744.7(CHRNA4):c.383+1G>A
|
rs139129197
|
0.00001
|
|
NM_000744.7(CHRNA4):c.400G>A (p.Ala134Thr)
|
rs796052321
|
0.00001
|
|
NM_000744.7(CHRNA4):c.425A>G (p.His142Arg)
|
rs200550248
|
0.00001
|
|
NM_000744.7(CHRNA4):c.493G>A (p.Val165Ile)
|
rs762764855
|
0.00001
|
|
NM_000744.7(CHRNA4):c.663G>C (p.Arg221Ser)
|
rs1174421657
|
0.00001
|
|
NM_000744.7(CHRNA4):c.673T>G (p.Cys225Gly)
|
rs1263987235
|
0.00001
|
|
NM_000744.7(CHRNA4):c.687C>G (p.Ile229Met)
|
rs200063611
|
0.00001
|
|
NM_000744.7(CHRNA4):c.697A>G (p.Ile233Val)
|
rs1362651443
|
0.00001
|
|
NM_000744.7(CHRNA4):c.718C>T (p.Arg240Trp)
|
rs757030850
|
0.00001
|
|
NM_000744.7(CHRNA4):c.758C>T (p.Pro253Leu)
|
rs747083728
|
0.00001
|
|
NM_000744.7(CHRNA4):c.778C>A (p.Leu260Ile)
|
rs770780958
|
0.00001
|
|
NM_000744.7(CHRNA4):c.827C>T (p.Thr276Met)
|
rs796052323
|
0.00001
|
|
NM_000744.7(CHRNA4):c.859G>A (p.Val287Ile)
|
rs772253190
|
0.00001
|
|
NM_000744.7(CHRNA4):c.940A>G (p.Met314Val)
|
rs773225799
|
0.00001
|
|
NM_000744.7(CHRNA4):c.967A>G (p.Ile323Val)
|
rs200985465
|
0.00001
|
|
NM_000744.7(CHRNA4):c.985A>G (p.Asn329Asp)
|
rs767865433
|
0.00001
|
|
NM_000744.7(CHRNA4):c.986A>G (p.Asn329Ser)
|
rs201046441
|
0.00001
|
|
NM_000744.7(CHRNA4):c.988G>A (p.Val330Met)
|
rs951238893
|
0.00001
|
|
NM_000744.7(CHRNA4):c.997C>T (p.Arg333Cys)
|
rs761631713
|
0.00001
|
|
NM_000744.7(CHRNA4):c.998G>A (p.Arg333His)
|
rs1170843579
|
0.00001
|
|
NM_000748.3(CHRNB2):c.1040T>A (p.Leu347His)
|
rs368787419
|
0.00001
|
|
NM_000748.3(CHRNB2):c.1058G>A (p.Arg353His)
|
rs200924076
|
0.00001
|
|
NM_000748.3(CHRNB2):c.1082T>C (p.Leu361Pro)
|
rs1226774233
|
0.00001
|
|
NM_000748.3(CHRNB2):c.1115G>A (p.Gly372Asp)
|
rs757023317
|
0.00001
|
|
NM_000748.3(CHRNB2):c.1126C>T (p.Leu376Phe)
|
rs1286192889
|
0.00001
|
|
NM_000748.3(CHRNB2):c.1136G>C (p.Arg379Pro)
|
rs1440128191
|
0.00001
|
|
NM_000748.3(CHRNB2):c.1153G>A (p.Asp385Asn)
|
rs932622161
|
0.00001
|
|
NM_000748.3(CHRNB2):c.1161C>A (p.Cys387Ter)
|
rs1409415937
|
0.00001
|
|
NM_000748.3(CHRNB2):c.1199C>A (p.Ala400Asp)
|
rs1020953003
|
0.00001
|
|
NM_000748.3(CHRNB2):c.1201G>A (p.Gly401Arg)
|
rs902984484
|
0.00001
|
|
NM_000748.3(CHRNB2):c.1204G>A (p.Ala402Thr)
|
rs199658508
|
0.00001
|
|
NM_000748.3(CHRNB2):c.1207T>G (p.Phe403Val)
|
rs1166872057
|
0.00001
|
|
NM_000748.3(CHRNB2):c.1231G>C (p.Ala411Pro)
|
rs1225745274
|
0.00001
|
|
NM_000748.3(CHRNB2):c.1250G>A (p.Gly417Glu)
|
rs1191094208
|
0.00001
|
|
NM_000748.3(CHRNB2):c.1253A>G (p.Glu418Gly)
|
rs1475853887
|
0.00001
|
|
NM_000748.3(CHRNB2):c.1291G>C (p.Val431Leu)
|
rs1064796396
|
0.00001
|
|
NM_000748.3(CHRNB2):c.1295G>C (p.Arg432Pro)
|
rs747248135
|
0.00001
|
|
NM_000748.3(CHRNB2):c.1312A>G (p.Met438Val)
|
rs916448473
|
0.00001
|
|
NM_000748.3(CHRNB2):c.1319G>A (p.Ser440Asn)
|
rs1187024375
|
0.00001
|
|
NM_000748.3(CHRNB2):c.1320C>A (p.Ser440Arg)
|
rs1049048240
|
0.00001
|
|
NM_000748.3(CHRNB2):c.1338+3G>T
|
rs886348487
|
0.00001
|
|
NM_000748.3(CHRNB2):c.1338C>T (p.Ser446=)
|
rs201462348
|
0.00001
|
|
NM_000748.3(CHRNB2):c.1360G>A (p.Val454Ile)
|
rs765202298
|
0.00001
|
|
NM_000748.3(CHRNB2):c.1375G>A (p.Asp459Asn)
|
rs140505576
|
0.00001
|
|
NM_000748.3(CHRNB2):c.140G>A (p.Arg47His)
|
rs769249583
|
0.00001
|
|
NM_000748.3(CHRNB2):c.1415T>C (p.Phe472Ser)
|
rs200855905
|
0.00001
|
|
NM_000748.3(CHRNB2):c.1423A>C (p.Ile475Leu)
|
rs202135710
|
0.00001
|
|
NM_000748.3(CHRNB2):c.1459A>G (p.Thr487Ala)
|
rs1420884732
|
0.00001
|
|
NM_000748.3(CHRNB2):c.149C>T (p.Thr50Ile)
|
rs762363770
|
0.00001
|
|
NM_000748.3(CHRNB2):c.170C>T (p.Thr57Ile)
|
rs1483069937
|
0.00001
|
|
NM_000748.3(CHRNB2):c.217C>T (p.Arg73Trp)
|
rs771286419
|
0.00001
|
|
NM_000748.3(CHRNB2):c.22G>T (p.Val8Leu)
|
rs772815972
|
0.00001
|
|
NM_000748.3(CHRNB2):c.255+6C>T
|
rs754415116
|
0.00001
|
|
NM_000748.3(CHRNB2):c.271C>T (p.Arg91Cys)
|
rs754725293
|
0.00001
|
|
NM_000748.3(CHRNB2):c.277A>T (p.Thr93Ser)
|
rs752355994
|
0.00001
|
|
NM_000748.3(CHRNB2):c.317G>A (p.Arg106Gln)
|
rs779199533
|
0.00001
|
|
NM_000748.3(CHRNB2):c.366-3C>T
|
rs1382302930
|
0.00001
|
|
NM_000748.3(CHRNB2):c.373G>A (p.Gly125Ser)
|
rs922186544
|
0.00001
|
|
NM_000748.3(CHRNB2):c.406G>A (p.Val136Met)
|
rs763776515
|
0.00001
|
|
NM_000748.3(CHRNB2):c.515A>G (p.Lys172Arg)
|
rs1330894666
|
0.00001
|
|
NM_000748.3(CHRNB2):c.539G>A (p.Arg180His)
|
rs768297928
|
0.00001
|
|
NM_000748.3(CHRNB2):c.546G>T (p.Glu182Asp)
|
rs199696100
|
0.00001
|
|
NM_000748.3(CHRNB2):c.604G>A (p.Glu202Lys)
|
rs1260932072
|
0.00001
|
|
NM_000748.3(CHRNB2):c.620C>T (p.Ala207Val)
|
rs201622476
|
0.00001
|
|
NM_000748.3(CHRNB2):c.634C>T (p.Arg212Cys)
|
rs572595325
|
0.00001
|
|
NM_000748.3(CHRNB2):c.646C>T (p.Pro216Ser)
|
rs200796605
|
0.00001
|
|
NM_000748.3(CHRNB2):c.658A>C (p.Thr220Pro)
|
rs374183227
|
0.00001
|
|
NM_000748.3(CHRNB2):c.659C>T (p.Thr220Met)
|
rs796052326
|
0.00001
|
|
NM_000748.3(CHRNB2):c.691C>T (p.Arg231Cys)
|
rs752986234
|
0.00001
|
|
NM_000748.3(CHRNB2):c.694C>T (p.Arg232Cys)
|
rs756406057
|
0.00001
|
|
NM_000748.3(CHRNB2):c.788G>A (p.Gly263Asp)
|
rs373676452
|
0.00001
|
|
NM_000748.3(CHRNB2):c.794A>T (p.Lys265Met)
|
rs1696166155
|
0.00001
|
|
NM_000748.3(CHRNB2):c.797T>C (p.Met266Thr)
|
rs113672425
|
0.00001
|
|
NM_000748.3(CHRNB2):c.88G>A (p.Glu30Lys)
|
rs199919525
|
0.00001
|
|
NM_000748.3(CHRNB2):c.892G>A (p.Gly298Ser)
|
rs754992449
|
0.00001
|
|
NM_000748.3(CHRNB2):c.910A>G (p.Thr304Ala)
|
rs780962241
|
0.00001
|
|
NM_000748.3(CHRNB2):c.92G>A (p.Arg31Gln)
|
rs758492974
|
0.00001
|
|
NM_000748.3(CHRNB2):c.968A>G (p.His323Arg)
|
rs201004255
|
0.00001
|
|
NM_020822.3(KCNT1):c.1093C>T (p.Arg365Cys)
|
rs751116785
|
0.00001
|
|
NM_020822.3(KCNT1):c.110+5A>G
|
rs768926196
|
0.00001
|
|
NM_020822.3(KCNT1):c.1109C>T (p.Thr370Met)
|
rs1284049151
|
0.00001
|
|
NM_020822.3(KCNT1):c.111-2A>T
|
rs1382443844
|
0.00001
|
|
NM_020822.3(KCNT1):c.1139C>T (p.Ser380Phe)
|
rs765193021
|
0.00001
|
|
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.1229C>T (p.Thr410Met)
|
rs954342612
|
0.00001
|
|
NM_020822.3(KCNT1):c.1249C>T (p.Arg417Cys)
|
rs781342838
|
0.00001
|
|
NM_020822.3(KCNT1):c.1336A>C (p.Lys446Gln)
|
rs144824627
|
0.00001
|
|
NM_020822.3(KCNT1):c.1346A>G (p.Asn449Ser)
|
rs1336529060
|
0.00001
|
|
NM_020822.3(KCNT1):c.1381G>C (p.Glu461Gln)
|
rs141311481
|
0.00001
|
|
NM_020822.3(KCNT1):c.1402-8C>T
|
rs1303785635
|
0.00001
|
|
NM_020822.3(KCNT1):c.1423G>A (p.Ala475Thr)
|
rs144956052
|
0.00001
|
|
NM_020822.3(KCNT1):c.143A>T (p.Asp48Val)
|
rs762875063
|
0.00001
|
|
NM_020822.3(KCNT1):c.1444G>A (p.Ala482Thr)
|
rs577633745
|
0.00001
|
|
NM_020822.3(KCNT1):c.1498G>A (p.Val500Ile)
|
rs778483249
|
0.00001
|
|
NM_020822.3(KCNT1):c.1516G>A (p.Val506Met)
|
rs905524850
|
0.00001
|
|
NM_020822.3(KCNT1):c.1577C>T (p.Thr526Ile)
|
rs753874335
|
0.00001
|
|
NM_020822.3(KCNT1):c.1612C>T (p.Arg538Cys)
|
rs774588571
|
0.00001
|
|
NM_020822.3(KCNT1):c.1613G>A (p.Arg538His)
|
rs748178951
|
0.00001
|
|
NM_020822.3(KCNT1):c.1615G>A (p.Gly539Ser)
|
rs1035980360
|
0.00001
|
|
NM_020822.3(KCNT1):c.1619A>G (p.Gln540Arg)
|
rs1446587740
|
0.00001
|
|
NM_020822.3(KCNT1):c.1664G>A (p.Arg555His)
|
rs764477306
|
0.00001
|
|
NM_020822.3(KCNT1):c.1729G>A (p.Gly577Ser)
|
rs1220099278
|
0.00001
|
|
NM_020822.3(KCNT1):c.1751C>T (p.Ala584Val)
|
rs1423355423
|
0.00001
|
|
NM_020822.3(KCNT1):c.1766A>G (p.Lys589Arg)
|
rs1217094996
|
0.00001
|
|
NM_020822.3(KCNT1):c.1797G>T (p.Lys599Asn)
|
rs762247965
|
0.00001
|
|
NM_020822.3(KCNT1):c.181G>A (p.Val61Met)
|
rs1337263243
|
0.00001
|
|
NM_020822.3(KCNT1):c.1834C>T (p.Pro612Ser)
|
rs1330106369
|
0.00001
|
|
NM_020822.3(KCNT1):c.1837C>T (p.Arg613Trp)
|
rs779639843
|
0.00001
|
|
NM_020822.3(KCNT1):c.191T>G (p.Leu64Trp)
|
rs1564314603
|
0.00001
|
|
NM_020822.3(KCNT1):c.1957C>A (p.Leu653Met)
|
rs771481255
|
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.2020A>G (p.Met674Val)
|
rs753401695
|
0.00001
|
|
NM_020822.3(KCNT1):c.2059G>A (p.Gly687Ser)
|
rs1156662870
|
0.00001
|
|
NM_020822.3(KCNT1):c.2062G>A (p.Gly688Ser)
|
rs570983410
|
0.00001
|
|
NM_020822.3(KCNT1):c.2068G>A (p.Gly690Ser)
|
rs1410497158
|
0.00001
|
|
NM_020822.3(KCNT1):c.2069G>A (p.Gly690Asp)
|
rs777827895
|
0.00001
|
|
NM_020822.3(KCNT1):c.2075G>A (p.Gly692Asp)
|
rs922840311
|
0.00001
|
|
NM_020822.3(KCNT1):c.2096C>T (p.Thr699Met)
|
rs538197009
|
0.00001
|
|
NM_020822.3(KCNT1):c.211C>T (p.Arg71Trp)
|
rs755348603
|
0.00001
|
|
NM_020822.3(KCNT1):c.2137G>A (p.Val713Ile)
|
rs945869943
|
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.2216C>T (p.Ser739Leu)
|
rs1163455129
|
0.00001
|
|
NM_020822.3(KCNT1):c.2230C>T (p.Leu744Phe)
|
rs778897238
|
0.00001
|
|
NM_020822.3(KCNT1):c.2243+3G>A
|
rs939389547
|
0.00001
|
|
NM_020822.3(KCNT1):c.2339G>A (p.Arg780Gln)
|
rs780759196
|
0.00001
|
|
NM_020822.3(KCNT1):c.2349+4A>G
|
rs745399878
|
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.2452A>G (p.Ile818Val)
|
rs1306134073
|
0.00001
|
|
NM_020822.3(KCNT1):c.2455G>A (p.Val819Met)
|
rs771284979
|
0.00001
|
|
NM_020822.3(KCNT1):c.247G>C (p.Asp83His)
|
rs774085172
|
0.00001
|
|
NM_020822.3(KCNT1):c.2483G>A (p.Arg828His)
|
rs747191095
|
0.00001
|
|
NM_020822.3(KCNT1):c.2500A>G (p.Ile834Val)
|
rs1476079719
|
0.00001
|
|
NM_020822.3(KCNT1):c.2671G>A (p.Ala891Thr)
|
rs752835491
|
0.00001
|
|
NM_020822.3(KCNT1):c.2713G>A (p.Val905Met)
|
rs761134824
|
0.00001
|
|
NM_020822.3(KCNT1):c.2728C>T (p.Arg910Trp)
|
rs1249219901
|
0.00001
|
|
NM_020822.3(KCNT1):c.2729+4C>T
|
rs1044688968
|
0.00001
|
|
NM_020822.3(KCNT1):c.2729+5G>A
|
rs759836338
|
0.00001
|
|
NM_020822.3(KCNT1):c.272A>G (p.Tyr91Cys)
|
rs1049280147
|
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.2848C>T (p.Arg950Ter)
|
rs1276883403
|
0.00001
|
|
NM_020822.3(KCNT1):c.2881C>T (p.Arg961Cys)
|
rs1178947201
|
0.00001
|
|
NM_020822.3(KCNT1):c.2899G>A (p.Gly967Ser)
|
rs139397246
|
0.00001
|
|
NM_020822.3(KCNT1):c.2903G>A (p.Arg968His)
|
rs1325608473
|
0.00001
|
|
NM_020822.3(KCNT1):c.2905G>A (p.Val969Ile)
|
rs1216283172
|
0.00001
|
|
NM_020822.3(KCNT1):c.2950G>A (p.Val984Met)
|
rs1465054757
|
0.00001
|
|
NM_020822.3(KCNT1):c.2971A>G (p.Ile991Val)
|
rs757503542
|
0.00001
|
|
NM_020822.3(KCNT1):c.2975C>T (p.Thr992Ile)
|
rs1032036573
|
0.00001
|
|
NM_020822.3(KCNT1):c.2977C>T (p.Arg993Trp)
|
rs368252006
|
0.00001
|
|
NM_020822.3(KCNT1):c.299G>A (p.Arg100Gln)
|
rs752032951
|
0.00001
|
|
NM_020822.3(KCNT1):c.3002C>T (p.Thr1001Met)
|
rs372775166
|
0.00001
|
|
NM_020822.3(KCNT1):c.3005C>T (p.Pro1002Leu)
|
rs763585049
|
0.00001
|
|
NM_020822.3(KCNT1):c.3027+1G>A
|
rs756311140
|
0.00001
|
|
NM_020822.3(KCNT1):c.3027C>T (p.Ala1009=)
|
rs371694148
|
0.00001
|
|
NM_020822.3(KCNT1):c.3046G>A (p.Asp1016Asn)
|
rs779908455
|
0.00001
|
|
NM_020822.3(KCNT1):c.3050T>G (p.Leu1017Arg)
|
rs1450164108
|
0.00001
|
|
NM_020822.3(KCNT1):c.3067G>A (p.Gly1023Ser)
|
rs754128567
|
0.00001
|
|
NM_020822.3(KCNT1):c.3070C>T (p.Arg1024Cys)
|
rs554853844
|
0.00001
|
|
NM_020822.3(KCNT1):c.3071G>A (p.Arg1024His)
|
rs765283220
|
0.00001
|
|
NM_020822.3(KCNT1):c.3100G>A (p.Ala1034Thr)
|
rs779961735
|
0.00001
|
|
NM_020822.3(KCNT1):c.3103G>A (p.Glu1035Lys)
|
rs748937639
|
0.00001
|
|
NM_020822.3(KCNT1):c.3125G>A (p.Arg1042Gln)
|
rs763578184
|
0.00001
|
|
NM_020822.3(KCNT1):c.3197T>C (p.Val1066Ala)
|
rs1554780631
|
0.00001
|
|
NM_020822.3(KCNT1):c.31G>A (p.Gly11Arg)
|
rs775548158
|
0.00001
|
|
NM_020822.3(KCNT1):c.3223G>A (p.Val1075Met)
|
rs771889785
|
0.00001
|
|
NM_020822.3(KCNT1):c.3284G>A (p.Gly1095Asp)
|
rs1206215512
|
0.00001
|
|
NM_020822.3(KCNT1):c.3310C>G (p.Leu1104Val)
|
rs996610690
|
0.00001
|
|
NM_020822.3(KCNT1):c.3322A>G (p.Lys1108Glu)
|
rs1358295612
|
0.00001
|
|
NM_020822.3(KCNT1):c.3353G>A (p.Arg1118His)
|
rs1055618053
|
0.00001
|
|
NM_020822.3(KCNT1):c.3371C>T (p.Ala1124Val)
|
rs1381344367
|
0.00001
|
|
NM_020822.3(KCNT1):c.3425G>A (p.Arg1142Gln)
|
rs773520283
|
0.00001
|
|
NM_020822.3(KCNT1):c.3431C>G (p.Ser1144Cys)
|
rs766557144
|
0.00001
|
|
NM_020822.3(KCNT1):c.3445C>T (p.Leu1149Phe)
|
rs1177972273
|
0.00001
|
|
NM_020822.3(KCNT1):c.3460A>C (p.Lys1154Gln)
|
rs750176430
|
0.00001
|
|
NM_020822.3(KCNT1):c.346C>T (p.Arg116Trp)
|
rs1588309625
|
0.00001
|
|
NM_020822.3(KCNT1):c.347G>A (p.Arg116Gln)
|
rs748873120
|
0.00001
|
|
NM_020822.3(KCNT1):c.3502+2dup
|
rs1336283260
|
0.00001
|
|
NM_020822.3(KCNT1):c.3503-17G>A
|
rs761613092
|
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.3571G>A (p.Glu1191Lys)
|
rs1292390745
|
0.00001
|
|
NM_020822.3(KCNT1):c.3586G>A (p.Val1196Ile)
|
rs1171803758
|
0.00001
|
|
NM_020822.3(KCNT1):c.3616C>T (p.His1206Tyr)
|
rs759561558
|
0.00001
|
|
NM_020822.3(KCNT1):c.3651C>G (p.Ser1217Arg)
|
rs756986311
|
0.00001
|
|
NM_020822.3(KCNT1):c.3660C>G (p.His1220Gln)
|
rs868847760
|
0.00001
|
|
NM_020822.3(KCNT1):c.3668C>T (p.Ser1223Leu)
|
rs779379200
|
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.400G>A (p.Val134Ile)
|
rs766663683
|
0.00001
|
|
NM_020822.3(KCNT1):c.425G>T (p.Gly142Val)
|
rs1831131534
|
0.00001
|
|
NM_020822.3(KCNT1):c.473C>T (p.Ser158Leu)
|
rs751075368
|
0.00001
|
|
NM_020822.3(KCNT1):c.494C>T (p.Ala165Val)
|
rs1359744304
|
0.00001
|
|
NM_020822.3(KCNT1):c.52C>T (p.Arg18Cys)
|
rs1238224961
|
0.00001
|
|
NM_020822.3(KCNT1):c.547G>A (p.Val183Met)
|
rs751729308
|
0.00001
|
|
NM_020822.3(KCNT1):c.550G>T (p.Ala184Ser)
|
rs757371759
|
0.00001
|
|
NM_020822.3(KCNT1):c.566T>C (p.Leu189Pro)
|
rs749194581
|
0.00001
|
|
NM_020822.3(KCNT1):c.600+5G>A
|
rs770367654
|
0.00001
|
|
NM_020822.3(KCNT1):c.730C>T (p.Leu244=)
|
rs376096546
|
0.00001
|
|
NM_020822.3(KCNT1):c.754A>C (p.Met252Leu)
|
rs755782470
|
0.00001
|
|
NM_020822.3(KCNT1):c.759+6C>T
|
rs1057522462
|
0.00001
|
|
NM_020822.3(KCNT1):c.928G>A (p.Val310Ile)
|
rs149436191
|
0.00001
|
|
NM_020822.3(KCNT1):c.984G>C (p.Gln328His)
|
rs1289554527
|
0.00001
|
|
NC_000008.10:g.(?_27319126)_(27328595_?)dup
|
|
|
|
NC_000008.10:g.(?_27319146)_(28608383_?)dup
|
|
|
|
NC_000008.10:g.(?_27326832)_(27328595_?)del
|
|
|
|
NC_000008.11:g.(?_27469335)_(27471194_?)del
|
|
|
|
NC_000009.11:g.(?_135139626)_(140034216_?)dup
|
|
|
|
NC_000009.11:g.(?_138392557)_(141016451_?)del
|
|
|
|
NC_000009.11:g.(?_138585443)_(138606586_?)dup
|
|
|
|
NC_000009.11:g.(?_138594085)_(138606586_?)dup
|
|
|
|
NC_000009.11:g.(?_138594085)_(139440258_?)dup
|
|
|
|
NC_000009.11:g.(?_138594085)_(140062314_?)dup
|
|
|
|
NC_000009.11:g.(?_138606403)_(138606586_?)dup
|
|
|
|
NC_000009.11:g.(?_138641924)_(138649247_?)del
|
|
|
|
NC_000009.11:g.(?_138645763)_(140729425_?)del
|
|
|
|
NC_000009.11:g.(?_138651496)_(138651725_?)dup
|
|
|
|
NC_000009.12:g.(?_135769927)_(135792181_?)dup
|
|
|
|
NC_000009.12:g.(?_135775290)_(135788182_?)del
|
|
|
|
NC_000009.12:g.(?_135786177)_(135792181_?)del
|
|
|
|
NC_000020.10:g.(?_61448417)_(62124660_?)del
|
|
|
|
NC_000020.10:g.(?_61977556)_(62044954_?)del
|
|
|
|
NC_000020.10:g.(?_61977556)_(62046499_?)del
|
|
|
|
NC_000020.10:g.(?_61977556)_(62065276_?)del
|
|
|
|
NC_000020.10:g.(?_61977556)_(62159505_?)del
|
|
|
|
NC_000020.10:g.(?_61977556)_(62159505_?)dup
|
|
|
|
NC_000020.10:g.(?_61977556)_(62562941_?)dup
|
|
|
|
NC_000020.10:g.(?_61987307)_(61992517_?)del
|
|
|
|
NC_000020.10:g.(?_61987307)_(61992517_?)dup
|
|
|
|
NC_000020.10:g.(?_61987307)_(61993206_?)del
|
|
|
|
NC_000020.10:g.(?_61987717)_(62038734_?)del
|
|
|
|
NC_000020.10:g.(?_61990880)_(62078210_?)dup
|
|
|
|
NC_000020.10:g.(?_61992422)_(62038748_?)del
|
|
|
|
NC_000020.11:g.(?_63346204)_(63361854_?)dup
|
|
|
|
NC_000020.11:g.(?_63355955)_(63356104_?)del
|
|
|
|
NM_000742.4(CHRNA2):c.*1090C>T
|
rs906182736
|
|
|
NM_000742.4(CHRNA2):c.*1395C>A
|
rs886062841
|
|
|
NM_000742.4(CHRNA2):c.*1688G>C
|
rs996594019
|
|
|
NM_000742.4(CHRNA2):c.*1707C>G
|
rs533752912
|
|
|
NM_000742.4(CHRNA2):c.*1707C>T
|
rs533752912
|
|
|
NM_000742.4(CHRNA2):c.*1769C>G
|
rs1451704235
|
|
|
NM_000742.4(CHRNA2):c.*196G>T
|
rs1267504386
|
|
|
NM_000742.4(CHRNA2):c.*348C>T
|
rs930285465
|
|
|
NM_000742.4(CHRNA2):c.*479G>C
|
rs574004327
|
|
|
NM_000742.4(CHRNA2):c.*662T>C
|
rs1812461161
|
|
|
NM_000742.4(CHRNA2):c.*892T>A
|
rs886062843
|
|
|
NM_000742.4(CHRNA2):c.-133C>T
|
rs886062846
|
|
|
NM_000742.4(CHRNA2):c.-312G>T
|
rs886062849
|
|
|
NM_000742.4(CHRNA2):c.1000T>C (p.Phe334Leu)
|
rs1812582220
|
|
|
NM_000742.4(CHRNA2):c.1018A>T (p.Thr340Ser)
|
rs1586390027
|
|
|
NM_000742.4(CHRNA2):c.1037C>T (p.Thr346Ile)
|
|
|
|
NM_000742.4(CHRNA2):c.1039G>A (p.Val347Ile)
|
rs1057524196
|
|
|
NM_000742.4(CHRNA2):c.1045G>A (p.Val349Met)
|
rs774279507
|
|
|
NM_000742.4(CHRNA2):c.1045G>C (p.Val349Leu)
|
rs774279507
|
|
|
NM_000742.4(CHRNA2):c.1052A>C (p.Asn351Thr)
|
rs770305730
|
|
|
NM_000742.4(CHRNA2):c.1063C>G (p.Arg355Gly)
|
rs56339365
|
|
|
NM_000742.4(CHRNA2):c.1063C>T (p.Arg355Cys)
|
rs56339365
|
|
|
NM_000742.4(CHRNA2):c.106del (p.Ala36fs)
|
|
|
|
NM_000742.4(CHRNA2):c.1070C>T (p.Pro357Leu)
|
rs1586389806
|
|
|
NM_000742.4(CHRNA2):c.1082C>T (p.Thr361Ile)
|
|
|
|
NM_000742.4(CHRNA2):c.1084A>T (p.Met362Leu)
|
rs796052301
|
|
|
NM_000742.4(CHRNA2):c.1093T>C (p.Trp365Arg)
|
|
|
|
NM_000742.4(CHRNA2):c.1094G>A (p.Trp365Ter)
|
rs2132651723
|
|
|
NM_000742.4(CHRNA2):c.1105G>A (p.Ala369Thr)
|
|
|
|
NM_000742.4(CHRNA2):c.1105del (p.Ala369fs)
|
rs757376257
|
|
|
NM_000742.4(CHRNA2):c.1105dup (p.Ala369fs)
|
rs757376257
|
|
|
NM_000742.4(CHRNA2):c.1124C>T (p.Pro375Leu)
|
rs1812571543
|
|
|
NM_000742.4(CHRNA2):c.1131G>A (p.Trp377Ter)
|
|
|
|
NM_000742.4(CHRNA2):c.1138_1145dup (p.Arg382_Pro383insTer)
|
|
|
|
NM_000742.4(CHRNA2):c.1148C>T (p.Pro383Leu)
|
rs796052302
|
|
|
NM_000742.4(CHRNA2):c.1152del (p.Pro385fs)
|
rs1812569409
|
|
|
NM_000742.4(CHRNA2):c.1156C>T (p.Pro386Ser)
|
rs2132651430
|
|
|
NM_000742.4(CHRNA2):c.1163A>G (p.Glu388Gly)
|
rs886062844
|
|
|
NM_000742.4(CHRNA2):c.1174C>G (p.Pro392Ala)
|
rs762406891
|
|
|
NM_000742.4(CHRNA2):c.1175C>G (p.Pro392Arg)
|
|
|
|
NM_000742.4(CHRNA2):c.1178T>C (p.Leu393Pro)
|
rs2132651312
|
|
|
NM_000742.4(CHRNA2):c.1217G>C (p.Ser406Thr)
|
|
|
|
NM_000742.4(CHRNA2):c.121del (p.Leu41fs)
|
rs796052310
|
|
|
NM_000742.4(CHRNA2):c.1222G>A (p.Val408Met)
|
rs771994243
|
|
|
NM_000742.4(CHRNA2):c.1229C>T (p.Ala410Val)
|
|
|
|
NM_000742.4(CHRNA2):c.1240G>A (p.Glu414Lys)
|
rs968676056
|
|
|
NM_000742.4(CHRNA2):c.1240del (p.Glu414fs)
|
rs1360369489
|
|
|
NM_000742.4(CHRNA2):c.1243G>A (p.Val415Met)
|
|
|
|
NM_000742.4(CHRNA2):c.1255G>A (p.Glu419Lys)
|
rs1812560444
|
|
|
NM_000742.4(CHRNA2):c.1259del (p.Glu420fs)
|
|
|
|
NM_000742.4(CHRNA2):c.1260_1261delinsAC (p.Asp421His)
|
|
|
|
NM_000742.4(CHRNA2):c.1262A>G (p.Asp421Gly)
|
rs1064795452
|
|
|
NM_000742.4(CHRNA2):c.1266A>T (p.Arg422Ser)
|
rs2132650884
|
|
|
NM_000742.4(CHRNA2):c.1267T>C (p.Trp423Arg)
|
|
|
|
NM_000742.4(CHRNA2):c.1273T>A (p.Cys425Ser)
|
|
|
|
NM_000742.4(CHRNA2):c.1273T>C (p.Cys425Arg)
|
rs1179640861
|
|
|
NM_000742.4(CHRNA2):c.1275T>G (p.Cys425Trp)
|
|
|
|
NM_000742.4(CHRNA2):c.1277C>T (p.Ala426Val)
|
rs138721954
|
|
|
NM_000742.4(CHRNA2):c.1318G>C (p.Gly440Arg)
|
|
|
|
NM_000742.4(CHRNA2):c.131C>G (p.Pro44Arg)
|
|
|
|
NM_000742.4(CHRNA2):c.1345C>T (p.Pro449Ser)
|
|
|
|
NM_000742.4(CHRNA2):c.1354G>T (p.Glu452Ter)
|
rs778197366
|
|
|
NM_000742.4(CHRNA2):c.1366C>G (p.Gln456Glu)
|
|
|
|
NM_000742.4(CHRNA2):c.1378C>A (p.Leu460Met)
|
rs765948265
|
|
|
NM_000742.4(CHRNA2):c.1378C>G (p.Leu460Val)
|
rs765948265
|
|
|
NM_000742.4(CHRNA2):c.137C>T (p.Pro46Leu)
|
rs748345482
|
|
|
NM_000742.4(CHRNA2):c.1393C>G (p.His465Asp)
|
rs772765800
|
|
|
NM_000742.4(CHRNA2):c.1393del (p.His465fs)
|
rs1394301488
|
|
|
NM_000742.4(CHRNA2):c.1412A>G (p.Glu471Gly)
|
rs963988264
|
|
|
NM_000742.4(CHRNA2):c.1415G>A (p.Gly472Asp)
|
rs1165713402
|
|
|
NM_000742.4(CHRNA2):c.1426A>C (p.Ile476Leu)
|
rs796052304
|
|
|
NM_000742.4(CHRNA2):c.1426A>G (p.Ile476Val)
|
rs796052304
|
|
|
NM_000742.4(CHRNA2):c.1447G>A (p.Glu483Lys)
|
rs755338508
|
|
|
NM_000742.4(CHRNA2):c.1460C>G (p.Ser487Cys)
|
|
|
|
NM_000742.4(CHRNA2):c.1464+4C>T
|
rs1586388485
|
|
|
NM_000742.4(CHRNA2):c.1464+5G>T
|
rs758065946
|
|
|
NM_000742.4(CHRNA2):c.1465-1G>A
|
rs1812498557
|
|
|
NM_000742.4(CHRNA2):c.1465-21_1465-20inv
|
|
|
|
NM_000742.4(CHRNA2):c.1465G>T (p.Val489Leu)
|
|
|
|
NM_000742.4(CHRNA2):c.1468_1470del (p.Lys490del)
|
|
|
|
NM_000742.4(CHRNA2):c.1478G>A (p.Trp493Ter)
|
rs374449470
|
|
|
NM_000742.4(CHRNA2):c.1498_1500del (p.Ile500del)
|
rs760166123
|
|
|
NM_000742.4(CHRNA2):c.1501G>A (p.Asp501Asn)
|
rs759930402
|
|
|
NM_000742.4(CHRNA2):c.1531G>C (p.Val511Leu)
|
rs796052306
|
|
|
NM_000742.4(CHRNA2):c.1534T>C (p.Cys512Arg)
|
|
|
|
NM_000742.4(CHRNA2):c.1535G>T (p.Cys512Phe)
|
|
|
|
NM_000742.4(CHRNA2):c.1541T>A (p.Leu514Gln)
|
rs1812493442
|
|
|
NM_000742.4(CHRNA2):c.1541T>C (p.Leu514Pro)
|
rs1812493442
|
|
|
NM_000742.4(CHRNA2):c.1544G>A (p.Gly515Glu)
|
rs1563315936
|
|
|
NM_000742.4(CHRNA2):c.1555C>T (p.Leu519Phe)
|
rs1586386548
|
|
|
NM_000742.4(CHRNA2):c.1563_1564delinsCT (p.Pro522Ser)
|
rs2132646191
|
|
|
NM_000742.4(CHRNA2):c.1568C>G (p.Pro523Arg)
|
|
|
|
NM_000742.4(CHRNA2):c.1583T>C (p.Met528Thr)
|
rs1812490479
|
|
|
NM_000742.4(CHRNA2):c.15T>A (p.Cys5Ter)
|
|
|
|
NM_000742.4(CHRNA2):c.164A>G (p.His55Arg)
|
rs1812820756
|
|
|
NM_000742.4(CHRNA2):c.16C>T (p.Pro6Ser)
|
|
|
|
NM_000742.4(CHRNA2):c.177G>C (p.Glu59Asp)
|
|
|
|
NM_000742.4(CHRNA2):c.178G>T (p.Asp60Tyr)
|
rs759538013
|
|
|
NM_000742.4(CHRNA2):c.181C>T (p.Arg61Trp)
|
|
|
|
NM_000742.4(CHRNA2):c.184C>T (p.Leu62Phe)
|
rs903870658
|
|
|
NM_000742.4(CHRNA2):c.193C>A (p.His65Asn)
|
rs200035862
|
|
|
NM_000742.4(CHRNA2):c.195C>G (p.His65Gln)
|
|
|
|
NM_000742.4(CHRNA2):c.197T>C (p.Leu66Pro)
|
|
|
|
NM_000742.4(CHRNA2):c.203G>C (p.Arg68Pro)
|
rs548268816
|
|
|
NM_000742.4(CHRNA2):c.203G>T (p.Arg68Leu)
|
rs548268816
|
|
|
NM_000742.4(CHRNA2):c.209A>G (p.Tyr70Cys)
|
rs1812818035
|
|
|
NM_000742.4(CHRNA2):c.215G>C (p.Arg72Pro)
|
rs201922955
|
|
|
NM_000742.4(CHRNA2):c.221C>A (p.Ala74Glu)
|
|
|
|
NM_000742.4(CHRNA2):c.221C>T (p.Ala74Val)
|
rs759595350
|
|
|
NM_000742.4(CHRNA2):c.224G>A (p.Arg75His)
|
rs762847144
|
|
|
NM_000742.4(CHRNA2):c.227C>G (p.Pro76Arg)
|
rs199810678
|
|
|
NM_000742.4(CHRNA2):c.22T>A (p.Phe8Ile)
|
rs1812864886
|
|
|
NM_000742.4(CHRNA2):c.235A>G (p.Asn79Asp)
|
rs1812814993
|
|
|
NM_000742.4(CHRNA2):c.239C>T (p.Thr80Ile)
|
rs1812814759
|
|
|
NM_000742.4(CHRNA2):c.24C>G (p.Phe8Leu)
|
|
|
|
NM_000742.4(CHRNA2):c.257T>A (p.Val86Glu)
|
|
|
|
NM_000742.4(CHRNA2):c.265G>A (p.Gly89Arg)
|
|
|
|
NM_000742.4(CHRNA2):c.269T>C (p.Leu90Pro)
|
|
|
|
NM_000742.4(CHRNA2):c.277G>C (p.Ala93Pro)
|
|
|
|
NM_000742.4(CHRNA2):c.286A>T (p.Ile96Phe)
|
rs149615415
|
|
|
NM_000742.4(CHRNA2):c.294+1G>A
|
rs1064795899
|
|
|
NM_000742.4(CHRNA2):c.294+2T>C
|
|
|
|
NM_000742.4(CHRNA2):c.295-18T>A
|
rs2132666061
|
|
|
NM_000742.4(CHRNA2):c.295-6G>A
|
rs2132665999
|
|
|
NM_000742.4(CHRNA2):c.295-7G>A
|
rs1812797993
|
|
|
NM_000742.4(CHRNA2):c.298G>A (p.Glu100Lys)
|
|
|
|
NM_000742.4(CHRNA2):c.29C>A (p.Ser10Tyr)
|
|
|
|
NM_000742.4(CHRNA2):c.301A>C (p.Lys101Gln)
|
rs1554515367
|
|
|
NM_000742.4(CHRNA2):c.305A>G (p.Asn102Ser)
|
rs2132665924
|
|
|
NM_000742.4(CHRNA2):c.328T>A (p.Trp110Arg)
|
|
|
|
NM_000742.4(CHRNA2):c.338A>C (p.Gln113Pro)
|
|
|
|
NM_000742.4(CHRNA2):c.339+5G>C
|
|
|
|
NM_000742.4(CHRNA2):c.35C>T (p.Thr12Ile)
|
|
|
|
NM_000742.4(CHRNA2):c.361C>A (p.Arg121Ser)
|
rs746274421
|
|
|
NM_000742.4(CHRNA2):c.361C>T (p.Arg121Cys)
|
|
|
|
NM_000742.4(CHRNA2):c.362G>A (p.Arg121His)
|
|
|
|
NM_000742.4(CHRNA2):c.364T>C (p.Trp122Arg)
|
|
|
|
NM_000742.4(CHRNA2):c.370C>A (p.Pro124Thr)
|
|
|
|
NM_000742.4(CHRNA2):c.373del (p.Thr125fs)
|
|
|
|
NM_000742.4(CHRNA2):c.376G>T (p.Asp126Tyr)
|
|
|
|
NM_000742.4(CHRNA2):c.380T>G (p.Phe127Cys)
|
rs777304017
|
|
|
NM_000742.4(CHRNA2):c.392C>T (p.Thr131Ile)
|
|
|
|
NM_000742.4(CHRNA2):c.403del (p.Val135fs)
|
rs777391476
|
|
|
NM_000742.4(CHRNA2):c.404T>G (p.Val135Gly)
|
rs1563321069
|
|
|
NM_000742.4(CHRNA2):c.413_422del (p.Glu138fs)
|
|
|
|
NM_000742.4(CHRNA2):c.428C>A (p.Pro143His)
|
|
|
|
NM_000742.4(CHRNA2):c.437T>C (p.Val146Ala)
|
|
|
|
NM_000742.4(CHRNA2):c.444CAA[1] (p.Asn150del)
|
rs758217117
|
|
|
NM_000742.4(CHRNA2):c.450-1G>T
|
|
|
|
NM_000742.4(CHRNA2):c.458G>A (p.Gly153Glu)
|
rs1812618871
|
|
|
NM_000742.4(CHRNA2):c.476A>G (p.His159Arg)
|
rs1812618288
|
|
|
NM_000742.4(CHRNA2):c.485_491del (p.Lys162fs)
|
rs1563319139
|
|
|
NM_000742.4(CHRNA2):c.500C>T (p.Ser167Phe)
|
rs1812616489
|
|
|
NM_000742.4(CHRNA2):c.502A>T (p.Thr168Ser)
|
|
|
|
NM_000742.4(CHRNA2):c.515A>G (p.His172Arg)
|
rs1812615728
|
|
|
NM_000742.4(CHRNA2):c.51G>T (p.Trp17Cys)
|
|
|
|
NM_000742.4(CHRNA2):c.523C>A (p.Pro175Thr)
|
|
|
|
NM_000742.4(CHRNA2):c.524C>T (p.Pro175Leu)
|
|
|
|
NM_000742.4(CHRNA2):c.527C>A (p.Pro176Gln)
|
rs769273715
|
|
|
NM_000742.4(CHRNA2):c.527C>T (p.Pro176Leu)
|
rs769273715
|
|
|
NM_000742.4(CHRNA2):c.537C>G (p.Tyr179Ter)
|
rs192887571
|
|
|
NM_000742.4(CHRNA2):c.540G>C (p.Lys180Asn)
|
rs201551533
|
|
|
NM_000742.4(CHRNA2):c.543C>G (p.Ser181Arg)
|
rs768575325
|
|
|
NM_000742.4(CHRNA2):c.549C>A (p.Cys183Ter)
|
rs1563319049
|
|
|
NM_000742.4(CHRNA2):c.551G>T (p.Ser184Ile)
|
|
|
|
NM_000742.4(CHRNA2):c.556G>A (p.Asp186Asn)
|
|
|
|
NM_000742.4(CHRNA2):c.563C>A (p.Thr188Asn)
|
|
|
|
NM_000742.4(CHRNA2):c.56T>C (p.Leu19Pro)
|
rs1812863482
|
|
|
NM_000742.4(CHRNA2):c.577G>T (p.Asp193Tyr)
|
|
|
|
NM_000742.4(CHRNA2):c.579C>A (p.Asp193Glu)
|
rs2132654151
|
|
|
NM_000742.4(CHRNA2):c.584A>C (p.Gln195Pro)
|
rs2132654123
|
|
|
NM_000742.4(CHRNA2):c.589T>C (p.Cys197Arg)
|
rs1554514597
|
|
|
NM_000742.4(CHRNA2):c.590G>T (p.Cys197Phe)
|
rs796052299
|
|
|
NM_000742.4(CHRNA2):c.603_616del (p.Phe201fs)
|
|
|
|
NM_000742.4(CHRNA2):c.607_629delinsATAAGTCCAG (p.Ser203fs)
|
rs1812608825
|
|
|
NM_000742.4(CHRNA2):c.625G>A (p.Ala209Thr)
|
|
|
|
NM_000742.4(CHRNA2):c.644A>G (p.Gln215Arg)
|
|
|
|
NM_000742.4(CHRNA2):c.647T>C (p.Met216Thr)
|
|
|
|
NM_000742.4(CHRNA2):c.653A>G (p.Gln218Arg)
|
rs377660408
|
|
|
NM_000742.4(CHRNA2):c.655A>G (p.Thr219Ala)
|
rs1428288320
|
|
|
NM_000742.4(CHRNA2):c.662A>G (p.Asp221Gly)
|
|
|
|
NM_000742.4(CHRNA2):c.676T>A (p.Trp226Arg)
|
|
|
|
NM_000742.4(CHRNA2):c.686_694del (p.Gly229_Trp231del)
|
|
|
|
NM_000742.4(CHRNA2):c.73+4A>C
|
rs1307812125
|
|
|
NM_000742.4(CHRNA2):c.74-6T>C
|
|
|
|
NM_000742.4(CHRNA2):c.74-6T>G
|
|
|
|
NM_000742.4(CHRNA2):c.740G>A (p.Cys247Tyr)
|
rs1812601639
|
|
|
NM_000742.4(CHRNA2):c.748G>A (p.Glu250Lys)
|
rs1262745996
|
|
|
NM_000742.4(CHRNA2):c.74G>C (p.Gly25Ala)
|
|
|
|
NM_000742.4(CHRNA2):c.763del (p.Val255fs)
|
rs2132653296
|
|
|
NM_000742.4(CHRNA2):c.767C>T (p.Thr256Ile)
|
rs1586390822
|
|
|
NM_000742.4(CHRNA2):c.784C>T (p.Arg262Trp)
|
|
|
|
NM_000742.4(CHRNA2):c.784del (p.Arg262fs)
|
rs1332347946
|
|
|
NM_000742.4(CHRNA2):c.788G>C (p.Arg263Pro)
|
|
|
|
NM_000742.4(CHRNA2):c.799T>A (p.Phe267Ile)
|
rs1554514530
|
|
|
NM_000742.4(CHRNA2):c.809T>C (p.Ile270Thr)
|
rs2132653089
|
|
|
NM_000742.4(CHRNA2):c.822C>G (p.Ile274Met)
|
|
|
|
NM_000742.4(CHRNA2):c.844C>T (p.Leu282Phe)
|
|
|
|
NM_000742.4(CHRNA2):c.860T>C (p.Phe287Ser)
|
rs1060503073
|
|
|
NM_000742.4(CHRNA2):c.881G>A (p.Gly294Asp)
|
|
|
|
NM_000742.4(CHRNA2):c.884AGA[1] (p.Lys296del)
|
rs796052309
|
|
|
NM_000742.4(CHRNA2):c.907G>A (p.Val303Met)
|
|
|
|
NM_000742.4(CHRNA2):c.907G>C (p.Val303Leu)
|
rs2132652645
|
|
|
NM_000742.4(CHRNA2):c.912_913delinsAA (p.Leu305Met)
|
rs2132652617
|
|
|
NM_000742.4(CHRNA2):c.922A>C (p.Thr308Pro)
|
rs1233767222
|
|
|
NM_000742.4(CHRNA2):c.929T>G (p.Phe310Cys)
|
rs1563318247
|
|
|
NM_000742.4(CHRNA2):c.92G>A (p.Arg31His)
|
|
|
|
NM_000742.4(CHRNA2):c.948G>C (p.Glu316Asp)
|
rs1812587015
|
|
|
NM_000742.4(CHRNA2):c.953T>A (p.Ile318Asn)
|
|
|
|
NM_000742.4(CHRNA2):c.956C>G (p.Pro319Arg)
|
rs750130500
|
|
|
NM_000742.4(CHRNA2):c.956C>T (p.Pro319Leu)
|
rs750130500
|
|
|
NM_000742.4(CHRNA2):c.959C>A (p.Ser320Tyr)
|
rs760884840
|
|
|
NM_000742.4(CHRNA2):c.971T>A (p.Val324Asp)
|
|
|
|
NM_000742.4(CHRNA2):c.986G>C (p.Gly329Ala)
|
|
|
|
NM_000742.4(CHRNA2):c.987_990del (p.Glu330fs)
|
rs1812583233
|
|
|
NM_000742.4(CHRNA2):c.993C>A (p.Tyr331Ter)
|
|
|
|
NM_000744.7(CHRNA4):c.1003C>T (p.Pro335Ser)
|
|
|
|
NM_000744.7(CHRNA4):c.1025C>T (p.Thr342Ile)
|
|
|
|
NM_000744.7(CHRNA4):c.1030dup (p.Val344fs)
|
rs1299258914
|
|
|
NM_000744.7(CHRNA4):c.1033C>G (p.Arg345Gly)
|
|
|
|
NM_000744.7(CHRNA4):c.1034G>A (p.Arg345His)
|
|
|
|
NM_000744.7(CHRNA4):c.1051A>G (p.Ile351Val)
|
|
|
|
NM_000744.7(CHRNA4):c.1066C>T (p.Leu356Phe)
|
rs121912265
|
|
|
NM_000744.7(CHRNA4):c.1069C>T (p.Leu357Phe)
|
rs1215991666
|
|
|
NM_000744.7(CHRNA4):c.1075A>G (p.Lys359Glu)
|
rs1555837732
|
|
|
NM_000744.7(CHRNA4):c.1075A>T (p.Lys359Ter)
|
rs1555837732
|
|
|
NM_000744.7(CHRNA4):c.1076A>C (p.Lys359Thr)
|
|
|
|
NM_000744.7(CHRNA4):c.1078C>T (p.Arg360Trp)
|
rs759167480
|
|
|
NM_000744.7(CHRNA4):c.107C>A (p.Ala36Asp)
|
rs2068775011
|
|
|
NM_000744.7(CHRNA4):c.1085C>T (p.Ser362Phe)
|
|
|
|
NM_000744.7(CHRNA4):c.1090G>A (p.Val364Ile)
|
|
|
|
NM_000744.7(CHRNA4):c.1091T>A (p.Val364Asp)
|
|
|
|
NM_000744.7(CHRNA4):c.109G>C (p.Glu37Gln)
|
|
|
|
NM_000744.7(CHRNA4):c.1103G>A (p.Cys368Tyr)
|
|
|
|
NM_000744.7(CHRNA4):c.1129A>C (p.Lys377Gln)
|
|
|
|
NM_000744.7(CHRNA4):c.1131G>T (p.Lys377Asn)
|
rs2123471394
|
|
|
NM_000744.7(CHRNA4):c.1136_1158del (p.Ala379fs)
|
rs2068568636
|
|
|
NM_000744.7(CHRNA4):c.1139G>A (p.Ser380Asn)
|
rs1601474256
|
|
|
NM_000744.7(CHRNA4):c.1161G>C (p.Glu387Asp)
|
rs1064795592
|
|
|
NM_000744.7(CHRNA4):c.116G>A (p.Arg39Gln)
|
rs1412355004
|
|
|
NM_000744.7(CHRNA4):c.1175C>T (p.Pro392Leu)
|
rs2123471262
|
|
|
NM_000744.7(CHRNA4):c.1178del (p.Pro393fs)
|
rs1435638963
|
|
|
NM_000744.7(CHRNA4):c.1178dup (p.Ala394fs)
|
rs1435638963
|
|
|
NM_000744.7(CHRNA4):c.1183A>G (p.Thr395Ala)
|
rs2068567925
|
|
|
NM_000744.7(CHRNA4):c.1188C>A (p.Ser396Arg)
|
|
|
|
NM_000744.7(CHRNA4):c.1192A>G (p.Thr398Ala)
|
|
|
|
NM_000744.7(CHRNA4):c.1206C>A (p.His402Gln)
|
|
|
|
NM_000744.7(CHRNA4):c.1207C>A (p.Pro403Thr)
|
rs903340563
|
|
|
NM_000744.7(CHRNA4):c.1207C>T (p.Pro403Ser)
|
|
|
|
NM_000744.7(CHRNA4):c.1208_1209delinsT (p.Pro403fs)
|
rs2068566927
|
|
|
NM_000744.7(CHRNA4):c.1209_1210delinsTT (p.Pro404Ser)
|
rs1064795858
|
|
|
NM_000744.7(CHRNA4):c.1211C>T (p.Pro404Leu)
|
rs1435870435
|
|
|
NM_000744.7(CHRNA4):c.1214C>T (p.Ser405Leu)
|
rs1568808891
|
|
|
NM_000744.7(CHRNA4):c.1216C>A (p.Pro406Thr)
|
rs571283490
|
|
|
NM_000744.7(CHRNA4):c.1220C>T (p.Ser407Phe)
|
rs761335733
|
|
|
NM_000744.7(CHRNA4):c.1231C>A (p.Pro411Thr)
|
rs2068565794
|
|
|
NM_000744.7(CHRNA4):c.1232C>T (p.Pro411Leu)
|
rs779035642
|
|
|
NM_000744.7(CHRNA4):c.1255G>A (p.Gly419Arg)
|
rs2068565140
|
|
|
NM_000744.7(CHRNA4):c.1271C>T (p.Ser424Leu)
|
|
|
|
NM_000744.7(CHRNA4):c.1274C>T (p.Pro425Leu)
|
rs561073516
|
|
|
NM_000744.7(CHRNA4):c.1279G>A (p.Asp427Asn)
|
rs1196580622
|
|
|
NM_000744.7(CHRNA4):c.1285C>T (p.Leu429Phe)
|
|
|
|
NM_000744.7(CHRNA4):c.1300C>T (p.Pro434Ser)
|
rs545104411
|
|
|
NM_000744.7(CHRNA4):c.1306G>A (p.Glu436Lys)
|
|
|
|
NM_000744.7(CHRNA4):c.1313A>G (p.Glu438Gly)
|
rs2068563339
|
|
|
NM_000744.7(CHRNA4):c.1325C>T (p.Pro442Leu)
|
|
|
|
NM_000744.7(CHRNA4):c.1349G>A (p.Arg450His)
|
|
|
|
NM_000744.7(CHRNA4):c.1355C>T (p.Pro452Leu)
|
rs2068562170
|
|
|
NM_000744.7(CHRNA4):c.1369G>A (p.Ala457Thr)
|
rs753598324
|
|
|
NM_000744.7(CHRNA4):c.1372C>T (p.Pro458Ser)
|
|
|
|
NM_000744.7(CHRNA4):c.1373C>A (p.Pro458Gln)
|
rs121912277
|
|
|
NM_000744.7(CHRNA4):c.1385A>C (p.Lys462Thr)
|
rs1568808487
|
|
|
NM_000744.7(CHRNA4):c.139G>A (p.Gly47Ser)
|
|
|
|
NM_000744.7(CHRNA4):c.1400G>A (p.Ser467Asn)
|
|
|
|
NM_000744.7(CHRNA4):c.1401C>G (p.Ser467Arg)
|
rs45569837
|
|
|
NM_000744.7(CHRNA4):c.1411A>G (p.Met471Val)
|
rs1568808418
|
|
|
NM_000744.7(CHRNA4):c.1415C>G (p.Ser472Cys)
|
|
|
|
NM_000744.7(CHRNA4):c.1418G>A (p.Ser473Asn)
|
rs2068560302
|
|
|
NM_000744.7(CHRNA4):c.1444G>A (p.Val482Ile)
|
|
|
|
NM_000744.7(CHRNA4):c.144CAA[1] (p.Asn49del)
|
rs780385531
|
|
|
NM_000744.7(CHRNA4):c.1453C>T (p.Arg485Trp)
|
rs978124935
|
|
|
NM_000744.7(CHRNA4):c.1466T>C (p.Ile489Thr)
|
rs377087067
|
|
|
NM_000744.7(CHRNA4):c.147C>G (p.Asn49Lys)
|
|
|
|
NM_000744.7(CHRNA4):c.1484G>A (p.Arg495Gln)
|
|
|
|
NM_000744.7(CHRNA4):c.1489G>A (p.Asp497Asn)
|
|
|
|
NM_000744.7(CHRNA4):c.1496C>A (p.Ala499Asp)
|
rs1191814622
|
|
|
NM_000744.7(CHRNA4):c.14G>T (p.Gly5Val)
|
rs946142547
|
|
|
NM_000744.7(CHRNA4):c.14del (p.Gly5fs)
|
rs2068814247
|
|
|
NM_000744.7(CHRNA4):c.1500dup (p.Glu501fs)
|
|
|
|
NM_000744.7(CHRNA4):c.1504G>T (p.Ala502Ser)
|
|
|
|
NM_000744.7(CHRNA4):c.1523_1525dup (p.Gly508dup)
|
rs2068557278
|
|
|
NM_000744.7(CHRNA4):c.152G>A (p.Trp51Ter)
|
|
|
|
NM_000744.7(CHRNA4):c.1542C>G (p.Asn514Lys)
|
|
|
|
NM_000744.7(CHRNA4):c.1547A>G (p.His516Arg)
|
|
|
|
NM_000744.7(CHRNA4):c.1553C>G (p.Ala518Gly)
|
rs201365294
|
|
|
NM_000744.7(CHRNA4):c.1553C>T (p.Ala518Val)
|
|
|
|
NM_000744.7(CHRNA4):c.1574A>G (p.Gln525Arg)
|
rs1445972429
|
|
|
NM_000744.7(CHRNA4):c.1577C>T (p.Pro526Leu)
|
|
|
|
NM_000744.7(CHRNA4):c.1589A>C (p.Lys530Thr)
|
rs2123470034
|
|
|
NM_000744.7(CHRNA4):c.1598G>C (p.Cys533Ser)
|
|
|
|
NM_000744.7(CHRNA4):c.1600AAG[1] (p.Lys535del)
|
rs2068554810
|
|
|
NM_000744.7(CHRNA4):c.1616C>T (p.Ser539Leu)
|
|
|
|
NM_000744.7(CHRNA4):c.161C>G (p.Pro54Arg)
|
rs2145408375
|
|
|
NM_000744.7(CHRNA4):c.1622C>T (p.Ser541Phe)
|
|
|
|
NM_000744.7(CHRNA4):c.1625C>A (p.Pro542Gln)
|
|
|
|
NM_000744.7(CHRNA4):c.1629C>G (p.Ser543Arg)
|
rs1044396
|
|
|
NM_000744.7(CHRNA4):c.1631C>T (p.Ala544Val)
|
|
|
|
NM_000744.7(CHRNA4):c.1635_1636insTGCCACG (p.Val546fs)
|
|
|
|
NM_000744.7(CHRNA4):c.1645C>G (p.Arg549Gly)
|
rs367658654
|
|
|
NM_000744.7(CHRNA4):c.1663C>T (p.Pro555Ser)
|
rs757510859
|
|
|
NM_000744.7(CHRNA4):c.1667C>G (p.Pro556Arg)
|
rs77345643
|
|
|
NM_000744.7(CHRNA4):c.1686_1689del (p.Pro562_Ala563insTer)
|
|
|
|
NM_000744.7(CHRNA4):c.16C>A (p.Pro6Thr)
|
rs796052312
|
|
|
NM_000744.7(CHRNA4):c.1700C>G (p.Ala567Gly)
|
rs76895198
|
|
|
NM_000744.7(CHRNA4):c.1719C>A (p.Tyr573Ter)
|
rs2123469625
|
|
|
NM_000744.7(CHRNA4):c.1726G>A (p.Asp576Asn)
|
rs537904499
|
|
|
NM_000744.7(CHRNA4):c.1729C>T (p.His577Tyr)
|
|
|
|
NM_000744.7(CHRNA4):c.172A>G (p.Ile58Val)
|
rs760044129
|
|
|
NM_000744.7(CHRNA4):c.1748_1749del (p.Thr583fs)
|
rs772170088
|
|
|
NM_000744.7(CHRNA4):c.174C>G (p.Ile58Met)
|
rs2068772907
|
|
|
NM_000744.7(CHRNA4):c.1758+1G>T
|
|
|
|
NM_000744.7(CHRNA4):c.1758G>A (p.Ser586=)
|
|
|
|
NM_000744.7(CHRNA4):c.1759-19A>C
|
|
|
|
NM_000744.7(CHRNA4):c.1762_1764del (p.Lys588del)
|
|
|
|
NM_000744.7(CHRNA4):c.1777T>G (p.Tyr593Asp)
|
|
|
|
NM_000744.7(CHRNA4):c.1780G>T (p.Val594Leu)
|
rs370887602
|
|
|
NM_000744.7(CHRNA4):c.1792A>G (p.Ile598Val)
|
rs1019612389
|
|
|
NM_000744.7(CHRNA4):c.1800C>T (p.Arg600=)
|
rs2068503706
|
|
|
NM_000744.7(CHRNA4):c.180C>G (p.Asp60Glu)
|
rs112051150
|
|
|
NM_000744.7(CHRNA4):c.181G>T (p.Val61Leu)
|
rs150451372
|
|
|
NM_000744.7(CHRNA4):c.1825G>T (p.Val609Phe)
|
rs201168195
|
|
|
NM_000744.7(CHRNA4):c.183_195dup (p.Phe66fs)
|
|
|
|
NM_000744.7(CHRNA4):c.1841C>T (p.Thr614Met)
|
|
|
|
NM_000744.7(CHRNA4):c.1847G>T (p.Gly616Val)
|
rs796052324
|
|
|
NM_000744.7(CHRNA4):c.184G>A (p.Val62Ile)
|
|
|
|
NM_000744.7(CHRNA4):c.1854C>G (p.Phe618Leu)
|
rs1568805215
|
|
|
NM_000744.7(CHRNA4):c.1858C>T (p.Pro620Ser)
|
rs1218865781
|
|
|
NM_000744.7(CHRNA4):c.1859C>G (p.Pro620Arg)
|
rs754340834
|
|
|
NM_000744.7(CHRNA4):c.1864T>C (p.Trp622Arg)
|
|
|
|
NM_000744.7(CHRNA4):c.198C>A (p.Phe66Leu)
|
rs201018244
|
|
|
NM_000744.7(CHRNA4):c.19G>A (p.Gly7Arg)
|
|
|
|
NM_000744.7(CHRNA4):c.1A>T (p.Met1Leu)
|
rs1359272155
|
|
|
NM_000744.7(CHRNA4):c.200G>A (p.Gly67Asp)
|
rs1568819500
|
|
|
NM_000744.7(CHRNA4):c.20G>A (p.Gly7Glu)
|
|
|
|
NM_000744.7(CHRNA4):c.210C>A (p.Ile70=)
|
rs765247204
|
|
|
NM_000744.7(CHRNA4):c.220A>C (p.Ile74Leu)
|
rs2068771449
|
|
|
NM_000744.7(CHRNA4):c.227T>G (p.Val76Gly)
|
|
|
|
NM_000744.7(CHRNA4):c.228+6T>A
|
|
|
|
NM_000744.7(CHRNA4):c.245T>C (p.Met82Thr)
|
rs2068719750
|
|
|
NM_000744.7(CHRNA4):c.25C>T (p.Pro9Ser)
|
|
|
|
NM_000744.7(CHRNA4):c.264G>A (p.Trp88Ter)
|
rs2145401994
|
|
|
NM_000744.7(CHRNA4):c.274-3C>T
|
|
|
|
NM_000744.7(CHRNA4):c.27_28delinsAG (p.Arg10Gly)
|
|
|
|
NM_000744.7(CHRNA4):c.28C>G (p.Arg10Gly)
|
rs2068813671
|
|
|
NM_000744.7(CHRNA4):c.28_29delinsTT (p.Arg10Leu)
|
|
|
|
NM_000744.7(CHRNA4):c.295C>T (p.Arg99Cys)
|
|
|
|
NM_000744.7(CHRNA4):c.29_40dup (p.Pro13_Pro14insArgLeuLeuPro)
|
|
|
|
NM_000744.7(CHRNA4):c.29_43dup (p.Arg10_Pro14dup)
|
rs777630161
|
|
|
NM_000744.7(CHRNA4):c.2T>C (p.Met1Thr)
|
rs2068814460
|
|
|
NM_000744.7(CHRNA4):c.301G>A (p.Asp101Asn)
|
rs1427242612
|
|
|
NM_000744.7(CHRNA4):c.305C>T (p.Pro102Leu)
|
rs759593635
|
|
|
NM_000744.7(CHRNA4):c.335G>A (p.Arg112His)
|
|
|
|
NM_000744.7(CHRNA4):c.341C>T (p.Pro114Leu)
|
|
|
|
NM_000744.7(CHRNA4):c.345C>A (p.Ser115=)
|
rs201033859
|
|
|
NM_000744.7(CHRNA4):c.348G>C (p.Glu116Asp)
|
rs866334493
|
|
|
NM_000744.7(CHRNA4):c.373C>T (p.Leu125Phe)
|
rs1568816521
|
|
|
NM_000744.7(CHRNA4):c.378CAA[1] (p.Asn128del)
|
|
|
|
NM_000744.7(CHRNA4):c.380A>G (p.Asn127Ser)
|
|
|
|
NM_000744.7(CHRNA4):c.382_383+1dup
|
rs2145400815
|
|
|
NM_000744.7(CHRNA4):c.383+3G>A
|
|
|
|
NM_000744.7(CHRNA4):c.384-3C>G
|
rs894265779
|
|
|
NM_000744.7(CHRNA4):c.388G>C (p.Asp130His)
|
rs2068589553
|
|
|
NM_000744.7(CHRNA4):c.389A>G (p.Asp130Gly)
|
|
|
|
NM_000744.7(CHRNA4):c.38_49dup (p.Pro13_Leu16dup)
|
rs1064794327
|
|
|
NM_000744.7(CHRNA4):c.38_52del (p.Pro13_Leu17del)
|
rs771936944
|
|
|
NM_000744.7(CHRNA4):c.391G>T (p.Gly131Trp)
|
|
|
|
NM_000744.7(CHRNA4):c.403_409del (p.Val135fs)
|
|
|
|
NM_000744.7(CHRNA4):c.409C>G (p.His137Asp)
|
rs1326365559
|
|
|
NM_000744.7(CHRNA4):c.410A>G (p.His137Arg)
|
rs1380488577
|
|
|
NM_000744.7(CHRNA4):c.413T>A (p.Leu138Gln)
|
rs1379403896
|
|
|
NM_000744.7(CHRNA4):c.419A>G (p.Lys140Arg)
|
|
|
|
NM_000744.7(CHRNA4):c.42GCT[5] (p.Leu19dup)
|
rs1053984520
|
|
|
NM_000744.7(CHRNA4):c.431T>G (p.Phe144Cys)
|
|
|
|
NM_000744.7(CHRNA4):c.431del (p.Phe144fs)
|
rs2068588736
|
|
|
NM_000744.7(CHRNA4):c.434A>G (p.His145Arg)
|
rs2123473347
|
|
|
NM_000744.7(CHRNA4):c.439G>T (p.Gly147Trp)
|
rs780556996
|
|
|
NM_000744.7(CHRNA4):c.443G>A (p.Arg148Gln)
|
|
|
|
NM_000744.7(CHRNA4):c.448C>A (p.Gln150Lys)
|
rs200747769
|
|
|
NM_000744.7(CHRNA4):c.448C>T (p.Gln150Ter)
|
rs200747769
|
|
|
NM_000744.7(CHRNA4):c.44T>C (p.Leu15Pro)
|
rs886044055
|
|
|
NM_000744.7(CHRNA4):c.466A>G (p.Ile156Val)
|
rs754895704
|
|
|
NM_000744.7(CHRNA4):c.479C>G (p.Ser160Cys)
|
rs201421555
|
|
|
NM_000744.7(CHRNA4):c.496A>T (p.Thr166Ser)
|
rs1568810867
|
|
|
NM_000744.7(CHRNA4):c.4G>C (p.Glu2Gln)
|
rs2145412501
|
|
|
NM_000744.7(CHRNA4):c.505C>T (p.Pro169Ser)
|
|
|
|
NM_000744.7(CHRNA4):c.506C>G (p.Pro169Arg)
|
rs199519224
|
|
|
NM_000744.7(CHRNA4):c.506C>T (p.Pro169Leu)
|
rs199519224
|
|
|
NM_000744.7(CHRNA4):c.507del (p.Phe170fs)
|
rs1250589502
|
|
|
NM_000744.7(CHRNA4):c.511G>A (p.Asp171Asn)
|
rs1352017376
|
|
|
NM_000744.7(CHRNA4):c.515A>G (p.Gln172Arg)
|
rs2068586894
|
|
|
NM_000744.7(CHRNA4):c.522C>A (p.Asn174Lys)
|
rs2068586748
|
|
|
NM_000744.7(CHRNA4):c.522C>G (p.Asn174Lys)
|
rs2068586748
|
|
|
NM_000744.7(CHRNA4):c.52_57dup (p.Leu18_Leu19dup)
|
rs2068812649
|
|
|
NM_000744.7(CHRNA4):c.538G>A (p.Gly180Ser)
|
|
|
|
NM_000744.7(CHRNA4):c.552C>G (p.Tyr184Ter)
|
rs112301452
|
|
|
NM_000744.7(CHRNA4):c.565A>G (p.Ile189Val)
|
|
|
|
NM_000744.7(CHRNA4):c.568G>T (p.Asp190Tyr)
|
rs750232429
|
|
|
NM_000744.7(CHRNA4):c.57G>A (p.Leu19=)
|
rs927241644
|
|
|
NM_000744.7(CHRNA4):c.580A>G (p.Met194Val)
|
|
|
|
NM_000744.7(CHRNA4):c.605A>C (p.Asp202Ala)
|
|
|
|
NM_000744.7(CHRNA4):c.613G>A (p.Glu205Lys)
|
|
|
|
NM_000744.7(CHRNA4):c.615G>C (p.Glu205Asp)
|
rs2123472933
|
|
|
NM_000744.7(CHRNA4):c.622G>A (p.Glu208Lys)
|
rs771249249
|
|
|
NM_000744.7(CHRNA4):c.629T>C (p.Val210Ala)
|
rs1252975373
|
|
|
NM_000744.7(CHRNA4):c.631A>G (p.Ile211Val)
|
rs749493840
|
|
|
NM_000744.7(CHRNA4):c.634G>A (p.Val212Met)
|
|
|
|
NM_000744.7(CHRNA4):c.643G>A (p.Val215Met)
|
rs918550714
|
|
|
NM_000744.7(CHRNA4):c.647G>C (p.Gly216Ala)
|
|
|
|
NM_000744.7(CHRNA4):c.656A>C (p.Asn219Thr)
|
rs201645533
|
|
|
NM_000744.7(CHRNA4):c.663G>T (p.Arg221Ser)
|
|
|
|
NM_000744.7(CHRNA4):c.682G>A (p.Glu228Lys)
|
rs1064795157
|
|
|
NM_000744.7(CHRNA4):c.683A>T (p.Glu228Val)
|
rs1568810474
|
|
|
NM_000744.7(CHRNA4):c.704A>G (p.Tyr235Cys)
|
|
|
|
NM_000744.7(CHRNA4):c.721C>G (p.Arg241Gly)
|
|
|
|
NM_000744.7(CHRNA4):c.727C>A (p.Pro243Thr)
|
rs1568810345
|
|
|
NM_000744.7(CHRNA4):c.731T>C (p.Leu244Pro)
|
rs2123472530
|
|
|
NM_000744.7(CHRNA4):c.748C>T (p.Leu250Phe)
|
rs759579810
|
|
|
NM_000744.7(CHRNA4):c.74G>A (p.Arg25His)
|
|
|
|
NM_000744.7(CHRNA4):c.755T>C (p.Ile252Thr)
|
rs1601476010
|
|
|
NM_000744.7(CHRNA4):c.76+1G>A
|
rs2068812210
|
|
|
NM_000744.7(CHRNA4):c.771C>G (p.Ile257Met)
|
|
|
|
NM_000744.7(CHRNA4):c.775_840dup (p.Ser280_Val281insCysLeuThrValLeuValPheTyrLeuProSerGluCysGlyGluLysIleThrLeuCysIleSer)
|
|
|
|
NM_000744.7(CHRNA4):c.778C>T (p.Leu260Phe)
|
|
|
|
NM_000744.7(CHRNA4):c.77C>T (p.Ala26Val)
|
rs761362001
|
|
|
NM_000744.7(CHRNA4):c.790G>A (p.Val264Ile)
|
rs2068579848
|
|
|
NM_000744.7(CHRNA4):c.797A>G (p.Tyr266Cys)
|
|
|
|
NM_000744.7(CHRNA4):c.799C>T (p.Leu267=)
|
rs121912256
|
|
|
NM_000744.7(CHRNA4):c.800T>G (p.Leu267Arg)
|
rs2068579508
|
|
|
NM_000744.7(CHRNA4):c.802C>T (p.Pro268Ser)
|
|
|
|
NM_000744.7(CHRNA4):c.806C>G (p.Ser269Cys)
|
rs2123472338
|
|
|
NM_000744.7(CHRNA4):c.810G>C (p.Glu270Asp)
|
rs2123472324
|
|
|
NM_000744.7(CHRNA4):c.810G>T (p.Glu270Asp)
|
|
|
|
NM_000744.7(CHRNA4):c.81C>A (p.Ser27Arg)
|
rs1211831892
|
|
|
NM_000744.7(CHRNA4):c.825C>G (p.Ile275Met)
|
|
|
|
NM_000744.7(CHRNA4):c.830T>C (p.Leu277Pro)
|
rs2068578781
|
|
|
NM_000744.7(CHRNA4):c.839C>G (p.Ser280Cys)
|
rs121909580
|
|
|
NM_000744.7(CHRNA4):c.844C>G (p.Leu282Val)
|
rs1601475770
|
|
|
NM_000744.7(CHRNA4):c.851C>G (p.Ser284Trp)
|
rs28931591
|
|
|
NM_000744.7(CHRNA4):c.871C>T (p.Leu291Phe)
|
|
|
|
NM_000744.7(CHRNA4):c.88G>C (p.Val30Leu)
|
rs746557446
|
|
|
NM_000744.7(CHRNA4):c.890C>T (p.Pro297Leu)
|
|
|
|
NM_000744.7(CHRNA4):c.8T>A (p.Leu3Gln)
|
rs2145412488
|
|
|
NM_000744.7(CHRNA4):c.913C>G (p.Leu305Val)
|
rs2123472055
|
|
|
NM_000744.7(CHRNA4):c.919G>A (p.Gly307Ser)
|
rs764586079
|
|
|
NM_000744.7(CHRNA4):c.922G>T (p.Glu308Ter)
|
rs1369167310
|
|
|
NM_000744.7(CHRNA4):c.940A>T (p.Met314Leu)
|
|
|
|
NM_000744.7(CHRNA4):c.946T>G (p.Phe316Val)
|
|
|
|
NM_000744.7(CHRNA4):c.950T>A (p.Val317Asp)
|
rs2068575976
|
|
|
NM_000744.7(CHRNA4):c.953C>A (p.Thr318Asn)
|
rs121912260
|
|
|
NM_000744.7(CHRNA4):c.956T>A (p.Leu319Gln)
|
|
|
|
NM_000744.7(CHRNA4):c.956T>C (p.Leu319Pro)
|
rs1315507965
|
|
|
NM_000744.7(CHRNA4):c.973G>A (p.Val325Ile)
|
|
|
|
NM_000744.7(CHRNA4):c.979G>C (p.Val327Leu)
|
|
|
|
NM_000744.7(CHRNA4):c.97C>T (p.Arg33Trp)
|
rs370553755
|
|
|
NM_000748.3(CHRNB2):c.1003G>A (p.Val335Met)
|
|
|
|
NM_000748.3(CHRNB2):c.1017C>A (p.Phe339Leu)
|
rs756041212
|
|
|
NM_000748.3(CHRNB2):c.1033G>A (p.Ala345Thr)
|
rs927693883
|
|
|
NM_000748.3(CHRNB2):c.1040T>C (p.Leu347Pro)
|
|
|
|
NM_000748.3(CHRNB2):c.1049A>G (p.Gln350Arg)
|
|
|
|
NM_000748.3(CHRNB2):c.106C>T (p.Leu36Phe)
|
rs1557850747
|
|
|
NM_000748.3(CHRNB2):c.1073G>C (p.Arg358Pro)
|
|
|
|
NM_000748.3(CHRNB2):c.1078C>T (p.Arg360Cys)
|
rs2101521916
|
|
|
NM_000748.3(CHRNB2):c.1080CCTGCG[3] (p.361LR[3])
|
rs781654245
|
|
|
NM_000748.3(CHRNB2):c.1088_1093dup (p.361LR[3])
|
rs2101521963
|
|
|
NM_000748.3(CHRNB2):c.1094G>T (p.Arg365Leu)
|
|
|
|
NM_000748.3(CHRNB2):c.1096C>T (p.Arg366Cys)
|
|
|
|
NM_000748.3(CHRNB2):c.1097_1099dup (p.Arg366_Gln367insArg)
|
|
|
|
NM_000748.3(CHRNB2):c.10C>A (p.Arg4Ser)
|
|
|
|
NM_000748.3(CHRNB2):c.1100A>G (p.Gln367Arg)
|
|
|
|
NM_000748.3(CHRNB2):c.1102C>G (p.Arg368Gly)
|
|
|
|
NM_000748.3(CHRNB2):c.1109G>A (p.Arg370His)
|
rs200483865
|
|
|
NM_000748.3(CHRNB2):c.1111G>A (p.Glu371Lys)
|
rs1696175893
|
|
|
NM_000748.3(CHRNB2):c.1111_1118del (p.Glu371fs)
|
|
|
|
NM_000748.3(CHRNB2):c.1126C>G (p.Leu376Val)
|
|
|
|
NM_000748.3(CHRNB2):c.1150G>A (p.Ala384Thr)
|
rs2101522239
|
|
|
NM_000748.3(CHRNB2):c.1169T>C (p.Phe390Ser)
|
rs2101522326
|
|
|
NM_000748.3(CHRNB2):c.1171G>C (p.Val391Leu)
|
rs770055798
|
|
|
NM_000748.3(CHRNB2):c.1176C>A (p.Asn392Lys)
|
rs560427247
|
|
|
NM_000748.3(CHRNB2):c.1190A>C (p.Gln397Pro)
|
|
|
|
NM_000748.3(CHRNB2):c.1190A>G (p.Gln397Arg)
|
rs200441832
|
|
|
NM_000748.3(CHRNB2):c.1210G>C (p.Gly404Arg)
|
|
|
|
NM_000748.3(CHRNB2):c.121C>T (p.Arg41Cys)
|
rs1174834370
|
|
|
NM_000748.3(CHRNB2):c.1240G>A (p.Gly414Arg)
|
rs1024048381
|
|
|
NM_000748.3(CHRNB2):c.1240G>C (p.Gly414Arg)
|
rs1024048381
|
|
|
NM_000748.3(CHRNB2):c.1244G>A (p.Arg415His)
|
rs971173003
|
|
|
NM_000748.3(CHRNB2):c.1244G>C (p.Arg415Pro)
|
|
|
|
NM_000748.3(CHRNB2):c.1249G>A (p.Gly417Arg)
|
rs1057520852
|
|
|
NM_000748.3(CHRNB2):c.1252G>T (p.Glu418Ter)
|
rs1375045864
|
|
|
NM_000748.3(CHRNB2):c.1256C>A (p.Pro419Gln)
|
rs908723251
|
|
|
NM_000748.3(CHRNB2):c.1270C>T (p.Leu424Phe)
|
rs2101522745
|
|
|
NM_000748.3(CHRNB2):c.1282G>A (p.Val428Met)
|
|
|
|
NM_000748.3(CHRNB2):c.1285G>A (p.Asp429Asn)
|
|
|
|
NM_000748.3(CHRNB2):c.1288G>C (p.Gly430Arg)
|
|
|
|
NM_000748.3(CHRNB2):c.1300A>T (p.Ile434Phe)
|
rs1171180526
|
|
|
NM_000748.3(CHRNB2):c.1316G>A (p.Arg439Gln)
|
|
|
|
NM_000748.3(CHRNB2):c.1333C>G (p.Gln445Glu)
|
|
|
|
NM_000748.3(CHRNB2):c.1335G>C (p.Gln445His)
|
rs1557852381
|
|
|
NM_000748.3(CHRNB2):c.1338_1339insTGGA (p.Val447fs)
|
|
|
|
NM_000748.3(CHRNB2):c.1343G>C (p.Ser448Thr)
|
|
|
|
NM_000748.3(CHRNB2):c.1343G>T (p.Ser448Ile)
|
rs774575734
|
|
|
NM_000748.3(CHRNB2):c.1344_1347del (p.Ser448fs)
|
rs1696260248
|
|
|
NM_000748.3(CHRNB2):c.1359C>G (p.Tyr453Ter)
|
rs761717685
|
|
|
NM_000748.3(CHRNB2):c.1364C>T (p.Ala455Val)
|
|
|
|
NM_000748.3(CHRNB2):c.1378C>T (p.Arg460Cys)
|
rs202079239
|
|
|
NM_000748.3(CHRNB2):c.1379G>A (p.Arg460His)
|
rs1297214421
|
|
|
NM_000748.3(CHRNB2):c.1382T>C (p.Leu461Pro)
|
rs1696261435
|
|
|
NM_000748.3(CHRNB2):c.13T>C (p.Cys5Arg)
|
|
|
|
NM_000748.3(CHRNB2):c.13T>G (p.Cys5Gly)
|
rs1261047629
|
|
|
NM_000748.3(CHRNB2):c.1400T>C (p.Val467Ala)
|
|
|
|
NM_000748.3(CHRNB2):c.1402T>C (p.Phe468Leu)
|
|
|
|
NM_000748.3(CHRNB2):c.1407_1410del (p.Cys470fs)
|
rs796052332
|
|
|
NM_000748.3(CHRNB2):c.1417G>A (p.Gly473Ser)
|
rs1696262468
|
|
|
NM_000748.3(CHRNB2):c.1423A>G (p.Ile475Val)
|
rs202135710
|
|
|
NM_000748.3(CHRNB2):c.1426G>A (p.Gly476Ser)
|
|
|
|
NM_000748.3(CHRNB2):c.1430T>C (p.Met477Thr)
|
|
|
|
NM_000748.3(CHRNB2):c.1438C>T (p.Gln480Ter)
|
|
|
|
NM_000748.3(CHRNB2):c.1439_1441del (p.Gln480del)
|
|
|
|
NM_000748.3(CHRNB2):c.1442C>T (p.Pro481Leu)
|
rs1696263260
|
|
|
NM_000748.3(CHRNB2):c.1451A>G (p.Gln484Arg)
|
rs1275049751
|
|
|
NM_000748.3(CHRNB2):c.146C>T (p.Ala49Val)
|
|
|
|
NM_000748.3(CHRNB2):c.1474C>T (p.Leu492Phe)
|
|
|
|
NM_000748.3(CHRNB2):c.1481C>T (p.Ser494Leu)
|
|
|
|
NM_000748.3(CHRNB2):c.1487A>C (p.His496Pro)
|
|
|
|
NM_000748.3(CHRNB2):c.1499G>A (p.Ser500Asn)
|
|
|
|
NM_000748.3(CHRNB2):c.149C>G (p.Thr50Ser)
|
rs762363770
|
|
|
NM_000748.3(CHRNB2):c.14G>C (p.Cys5Ser)
|
rs2149365741
|
|
|
NM_000748.3(CHRNB2):c.1503C>G (p.Ser501=)
|
|
|
|
NM_000748.3(CHRNB2):c.152A>G (p.Asn51Ser)
|
|
|
|
NM_000748.3(CHRNB2):c.154G>A (p.Gly52Ser)
|
rs1553204015
|
|
|
NM_000748.3(CHRNB2):c.166G>C (p.Val56Leu)
|
|
|
|
NM_000748.3(CHRNB2):c.16_31dup (p.Leu11fs)
|
|
|
|
NM_000748.3(CHRNB2):c.175C>T (p.Gln59Ter)
|
rs1696125297
|
|
|
NM_000748.3(CHRNB2):c.17G>A (p.Gly6Asp)
|
rs1304588530
|
|
|
NM_000748.3(CHRNB2):c.184G>A (p.Val62Met)
|
|
|
|
NM_000748.3(CHRNB2):c.1A>G (p.Met1Val)
|
|
|
|
NM_000748.3(CHRNB2):c.1A>T (p.Met1Leu)
|
rs2149365728
|
|
|
NM_000748.3(CHRNB2):c.211-3C>A
|
|
|
|
NM_000748.3(CHRNB2):c.21del (p.Val8fs)
|
rs2149365744
|
|
|
NM_000748.3(CHRNB2):c.223C>G (p.Gln75Glu)
|
rs2149366248
|
|
|
NM_000748.3(CHRNB2):c.22G>C (p.Val8Leu)
|
rs772815972
|
|
|
NM_000748.3(CHRNB2):c.262G>A (p.Glu88Lys)
|
rs1182581432
|
|
|
NM_000748.3(CHRNB2):c.281G>C (p.Trp94Ser)
|
rs2101518911
|
|
|
NM_000748.3(CHRNB2):c.297del (p.Phe99fs)
|
rs1696138351
|
|
|
NM_000748.3(CHRNB2):c.2T>A (p.Met1Lys)
|
rs1430279652
|
|
|
NM_000748.3(CHRNB2):c.301A>C (p.Asn101His)
|
rs929185848
|
|
|
NM_000748.3(CHRNB2):c.301A>G (p.Asn101Asp)
|
rs929185848
|
|
|
NM_000748.3(CHRNB2):c.306G>A (p.Met102Ile)
|
rs1696138605
|
|
|
NM_000748.3(CHRNB2):c.313G>A (p.Val105Ile)
|
|
|
|
NM_000748.3(CHRNB2):c.344C>T (p.Pro115Leu)
|
rs2101519039
|
|
|
NM_000748.3(CHRNB2):c.360CAA[1] (p.Asn122del)
|
rs796052329
|
|
|
NM_000748.3(CHRNB2):c.365+2T>C
|
rs1440177267
|
|
|
NM_000748.3(CHRNB2):c.366T>C (p.Asn122=)
|
rs748227150
|
|
|
NM_000748.3(CHRNB2):c.401A>G (p.Asn134Ser)
|
|
|
|
NM_000748.3(CHRNB2):c.402T>A (p.Asn134Lys)
|
rs760458701
|
|
|
NM_000748.3(CHRNB2):c.404C>T (p.Ala135Val)
|
rs1060502835
|
|
|
NM_000748.3(CHRNB2):c.410T>G (p.Val137Gly)
|
|
|
|
NM_000748.3(CHRNB2):c.416A>G (p.Tyr139Cys)
|
|
|
|
NM_000748.3(CHRNB2):c.423C>T (p.Gly141=)
|
rs1696159240
|
|
|
NM_000748.3(CHRNB2):c.448A>G (p.Ile150Val)
|
rs1557851437
|
|
|
NM_000748.3(CHRNB2):c.466A>G (p.Lys156Glu)
|
|
|
|
NM_000748.3(CHRNB2):c.470T>A (p.Ile157Asn)
|
|
|
|
NM_000748.3(CHRNB2):c.481C>T (p.His161Tyr)
|
rs1282479699
|
|
|
NM_000748.3(CHRNB2):c.485T>C (p.Phe162Ser)
|
rs1696160348
|
|
|
NM_000748.3(CHRNB2):c.4G>T (p.Ala2Ser)
|
rs2149365730
|
|
|
NM_000748.3(CHRNB2):c.50T>A (p.Leu17His)
|
|
|
|
NM_000748.3(CHRNB2):c.520dup (p.Arg174fs)
|
|
|
|
NM_000748.3(CHRNB2):c.524C>G (p.Ser175Trp)
|
rs75760566
|
|
|
NM_000748.3(CHRNB2):c.535G>A (p.Asp179Asn)
|
rs760490640
|
|
|
NM_000748.3(CHRNB2):c.539G>C (p.Arg180Pro)
|
rs768297928
|
|
|
NM_000748.3(CHRNB2):c.544del (p.Glu182fs)
|
|
|
|
NM_000748.3(CHRNB2):c.554T>C (p.Leu185Ser)
|
rs1696161618
|
|
|
NM_000748.3(CHRNB2):c.571G>T (p.Val191Leu)
|
rs2101520587
|
|
|
NM_000748.3(CHRNB2):c.578G>T (p.Ser193Ile)
|
rs2101520597
|
|
|
NM_000748.3(CHRNB2):c.58T>C (p.Cys20Arg)
|
|
|
|
NM_000748.3(CHRNB2):c.593C>T (p.Thr198Ile)
|
|
|
|
NM_000748.3(CHRNB2):c.599G>A (p.Ser200Asn)
|
|
|
|
NM_000748.3(CHRNB2):c.620C>G (p.Ala207Gly)
|
rs201622476
|
|
|
NM_000748.3(CHRNB2):c.626C>T (p.Pro209Leu)
|
|
|
|
NM_000748.3(CHRNB2):c.63A>G (p.Ser21=)
|
|
|
|
NM_000748.3(CHRNB2):c.64+3A>G
|
|
|
|
NM_000748.3(CHRNB2):c.648del (p.Asp217fs)
|
rs2101520745
|
|
|
NM_000748.3(CHRNB2):c.649G>A (p.Asp217Asn)
|
|
|
|
NM_000748.3(CHRNB2):c.65-2A>G
|
|
|
|
NM_000748.3(CHRNB2):c.65-2del
|
rs1696121118
|
|
|
NM_000748.3(CHRNB2):c.652G>A (p.Asp218Asn)
|
rs1429118769
|
|
|
NM_000748.3(CHRNB2):c.653A>C (p.Asp218Ala)
|
rs2101520790
|
|
|
NM_000748.3(CHRNB2):c.65G>A (p.Gly22Glu)
|
|
|
|
NM_000748.3(CHRNB2):c.664G>C (p.Val222Leu)
|
rs1453075590
|
|
|
NM_000748.3(CHRNB2):c.674C>G (p.Thr225Arg)
|
rs201952018
|
|
|
NM_000748.3(CHRNB2):c.687C>G (p.Ile229Met)
|
rs1244782091
|
|
|
NM_000748.3(CHRNB2):c.701C>T (p.Pro234Leu)
|
|
|
|
NM_000748.3(CHRNB2):c.732_733del (p.Val246fs)
|
rs2101520989
|
|
|
NM_000748.3(CHRNB2):c.754G>A (p.Ala252Thr)
|
rs2101521069
|
|
|
NM_000748.3(CHRNB2):c.785G>A (p.Cys262Tyr)
|
|
|
|
NM_000748.3(CHRNB2):c.790G>A (p.Glu264Lys)
|
rs1212070745
|
|
|
NM_000748.3(CHRNB2):c.791AGA[1] (p.Lys265del)
|
|
|
|
NM_000748.3(CHRNB2):c.796A>T (p.Met266Leu)
|
rs2101521127
|
|
|
NM_000748.3(CHRNB2):c.806_807delinsAA (p.Cys269Ter)
|
|
|
|
NM_000748.3(CHRNB2):c.811_812del (p.Val272fs)
|
|
|
|
NM_000748.3(CHRNB2):c.820del (p.Leu274fs)
|
|
|
|
NM_000748.3(CHRNB2):c.824C>T (p.Ala275Val)
|
rs201393088
|
|
|
NM_000748.3(CHRNB2):c.82A>G (p.Thr28Ala)
|
rs2149366120
|
|
|
NM_000748.3(CHRNB2):c.833T>C (p.Val278Ala)
|
rs2101521195
|
|
|
NM_000748.3(CHRNB2):c.844C>T (p.Leu282Phe)
|
rs1387572771
|
|
|
NM_000748.3(CHRNB2):c.847A>T (p.Ile283Phe)
|
rs1388744144
|
|
|
NM_000748.3(CHRNB2):c.847dup (p.Ile283fs)
|
rs2101521229
|
|
|
NM_000748.3(CHRNB2):c.859_867del (p.Val287_Pro289del)
|
rs2101521275
|
|
|
NM_000748.3(CHRNB2):c.863C>T (p.Pro288Leu)
|
|
|
|
NM_000748.3(CHRNB2):c.877G>A (p.Asp293Asn)
|
|
|
|
NM_000748.3(CHRNB2):c.880G>A (p.Val294Met)
|
|
|
|
NM_000748.3(CHRNB2):c.884C>T (p.Pro295Leu)
|
|
|
|
NM_000748.3(CHRNB2):c.893G>A (p.Gly298Asp)
|
rs868235334
|
|
|
NM_000748.3(CHRNB2):c.893G>T (p.Gly298Val)
|
rs868235334
|
|
|
NM_000748.3(CHRNB2):c.911C>T (p.Thr304Ile)
|
|
|
|
NM_000748.3(CHRNB2):c.919C>A (p.Leu307Ile)
|
rs200720061
|
|
|
NM_000748.3(CHRNB2):c.91C>T (p.Arg31Trp)
|
|
|
|
NM_000748.3(CHRNB2):c.929T>A (p.Phe310Tyr)
|
rs2101521485
|
|
|
NM_000748.3(CHRNB2):c.930del (p.Ser311fs)
|
rs1696170002
|
|
|
NM_000748.3(CHRNB2):c.937G>A (p.Val313Ile)
|
rs770557644
|
|
|
NM_000748.3(CHRNB2):c.946G>T (p.Val316Leu)
|
|
|
|
NM_000748.3(CHRNB2):c.953T>C (p.Val318Ala)
|
rs2101521543
|
|
|
NM_000748.3(CHRNB2):c.955C>G (p.Leu319Val)
|
|
|
|
NM_000748.3(CHRNB2):c.960C>A (p.Asn320Lys)
|
|
|
|
NM_000748.3(CHRNB2):c.961G>C (p.Val321Leu)
|
|
|
|
NM_000748.3(CHRNB2):c.970C>T (p.Arg324Cys)
|
|
|
|
NM_000748.3(CHRNB2):c.971_972delinsTA (p.Arg324Leu)
|
|
|
|
NM_000748.3(CHRNB2):c.974C>T (p.Ser325Leu)
|
rs1571022546
|
|
|
NM_000748.3(CHRNB2):c.977C>T (p.Pro326Leu)
|
|
|
|
NM_001242896.3(DEPDC5):c.4689_4690del (p.Gly1564_Asp1565insTer)
|
rs2149449670
|
|
|
NM_020822.3(KCNT1):c.1003A>T (p.Ile335Phe)
|
|
|
|
NM_020822.3(KCNT1):c.1009G>A (p.Val337Met)
|
|
|
|
NM_020822.3(KCNT1):c.1011G>A (p.Val337=)
|
rs1831789283
|
|
|
NM_020822.3(KCNT1):c.1018G>A (p.Val340Met)
|
rs558837964
|
|
|
NM_020822.3(KCNT1):c.1035+1G>A
|
rs778538243
|
|
|
NM_020822.3(KCNT1):c.1036-3C>T
|
|
|
|
NM_020822.3(KCNT1):c.1039G>A (p.Glu347Lys)
|
|
|
|
NM_020822.3(KCNT1):c.103G>A (p.Ala35Thr)
|
|
|
|
NM_020822.3(KCNT1):c.1048G>A (p.Val350Ile)
|
|
|
|
NM_020822.3(KCNT1):c.1049T>C (p.Val350Ala)
|
rs1329791962
|
|
|
NM_020822.3(KCNT1):c.104C>A (p.Ala35Asp)
|
|
|
|
NM_020822.3(KCNT1):c.1054C>G (p.Leu352Val)
|
|
|
|
NM_020822.3(KCNT1):c.1059G>C (p.Trp353Cys)
|
|
|
|
NM_020822.3(KCNT1):c.1060A>G (p.Met354Val)
|
rs2131473380
|
|
|
NM_020822.3(KCNT1):c.1069C>G (p.Gln357Glu)
|
|
|
|
NM_020822.3(KCNT1):c.107C>T (p.Pro36Leu)
|
|
|
|
NM_020822.3(KCNT1):c.1081G>A (p.Gly361Ser)
|
|
|
|
NM_020822.3(KCNT1):c.1093C>A (p.Arg365Ser)
|
|
|
|
NM_020822.3(KCNT1):c.1094G>A (p.Arg365His)
|
|
|
|
NM_020822.3(KCNT1):c.1094G>T (p.Arg365Leu)
|
|
|
|
NM_020822.3(KCNT1):c.1099C>T (p.Arg367Cys)
|
|
|
|
NM_020822.3(KCNT1):c.110+3dup
|
|
|
|
NM_020822.3(KCNT1):c.1100G>A (p.Arg367His)
|
|
|
|
NM_020822.3(KCNT1):c.1102G>T (p.Ala368Ser)
|
|
|
|
NM_020822.3(KCNT1):c.110_110+24delinsTTGACGACGGCCCCATTGACGACGGCCAATG
|
|
|
|
NM_020822.3(KCNT1):c.111-15G>A
|
|
|
|
NM_020822.3(KCNT1):c.1115A>G (p.Lys372Arg)
|
rs2131473824
|
|
|
NM_020822.3(KCNT1):c.112C>G (p.Arg38Gly)
|
rs1588255201
|
|
|
NM_020822.3(KCNT1):c.1132_1133del (p.Val378fs)
|
rs2131473970
|
|
|
NM_020822.3(KCNT1):c.113G>T (p.Arg38Leu)
|
|
|
|
NM_020822.3(KCNT1):c.1150G>T (p.Asp384Tyr)
|
|
|
|
NM_020822.3(KCNT1):c.1161G>A (p.Met387Ile)
|
rs1832172453
|
|
|
NM_020822.3(KCNT1):c.1174G>A (p.Glu392Lys)
|
rs780708628
|
|
|
NM_020822.3(KCNT1):c.1179C>A (p.Phe393Leu)
|
rs1832174053
|
|
|
NM_020822.3(KCNT1):c.1186C>T (p.His396Tyr)
|
rs1588343193
|
|
|
NM_020822.3(KCNT1):c.1189C>T (p.Pro397Ser)
|
rs2131474528
|
|
|
NM_020822.3(KCNT1):c.118T>C (p.Cys40Arg)
|
|
|
|
NM_020822.3(KCNT1):c.1200+12_1200+13delinsGC
|
|
|
|
NM_020822.3(KCNT1):c.1200+5G>A
|
|
|
|
NM_020822.3(KCNT1):c.1200G>T (p.Gln400His)
|
|
|
|
NM_020822.3(KCNT1):c.1208A>G (p.Tyr403Cys)
|
rs2131477259
|
|
|
NM_020822.3(KCNT1):c.1224C>A (p.Cys408Ter)
|
|
|
|
NM_020822.3(KCNT1):c.1226C>T (p.Pro409Leu)
|
rs1064794752
|
|
|
NM_020822.3(KCNT1):c.1233G>C (p.Glu411Asp)
|
|
|
|
NM_020822.3(KCNT1):c.1234A>G (p.Met412Val)
|
rs988871689
|
|
|
NM_020822.3(KCNT1):c.1234A>T (p.Met412Leu)
|
|
|
|
NM_020822.3(KCNT1):c.1236G>A (p.Met412Ile)
|
rs2131477505
|
|
|
NM_020822.3(KCNT1):c.1237G>A (p.Asp413Asn)
|
rs2131477515
|
|
|
NM_020822.3(KCNT1):c.1245G>C (p.Gln415His)
|
|
|
|
NM_020822.3(KCNT1):c.1249C>G (p.Arg417Gly)
|
|
|
|
NM_020822.3(KCNT1):c.1250G>A (p.Arg417His)
|
rs745965148
|
|
|
NM_020822.3(KCNT1):c.1254A>C (p.Arg418Ser)
|
rs1440098446
|
|
|
NM_020822.3(KCNT1):c.1260_1269dup (p.Leu424fs)
|
|
|
|
NM_020822.3(KCNT1):c.1275G>A (p.Trp425Ter)
|
|
|
|
NM_020822.3(KCNT1):c.1281G>T (p.Gln427His)
|
|
|
|
NM_020822.3(KCNT1):c.1282C>T (p.Arg428Trp)
|
rs373755663
|
|
|
NM_020822.3(KCNT1):c.1300G>A (p.Gly434Ser)
|
|
|
|
NM_020822.3(KCNT1):c.1323C>A (p.Asp441Glu)
|
|
|
|
NM_020822.3(KCNT1):c.1330C>T (p.Arg444Ter)
|
|
|
|
NM_020822.3(KCNT1):c.1338-2A>C
|
|
|
|
NM_020822.3(KCNT1):c.1342G>C (p.Asp448His)
|
|
|
|
NM_020822.3(KCNT1):c.1347T>A (p.Asn449Lys)
|
|
|
|
NM_020822.3(KCNT1):c.136C>T (p.Leu46Phe)
|
rs869312682
|
|
|
NM_020822.3(KCNT1):c.1373G>A (p.Ser458Asn)
|
|
|
|
NM_020822.3(KCNT1):c.1390C>T (p.Arg464Cys)
|
rs1564367281
|
|
|
NM_020822.3(KCNT1):c.1394C>A (p.Thr465Lys)
|
rs539139475
|
|
|
NM_020822.3(KCNT1):c.1396G>A (p.Ala466Thr)
|
rs1832501333
|
|
|
NM_020822.3(KCNT1):c.1399G>A (p.Ala467Thr)
|
|
|
|
NM_020822.3(KCNT1):c.1401+6_1401+9del
|
|
|
|
NM_020822.3(KCNT1):c.1401A>G (p.Ala467=)
|
|
|
|
NM_020822.3(KCNT1):c.1402-6C>G
|
|
|
|
NM_020822.3(KCNT1):c.1402-7C>G
|
|
|
|
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
|
|
|
|
NM_020822.3(KCNT1):c.1432G>A (p.Val478Met)
|
|
|
|
NM_020822.3(KCNT1):c.1448C>G (p.Pro483Arg)
|
|
|
|
NM_020822.3(KCNT1):c.1490A>G (p.Lys497Arg)
|
rs1245114972
|
|
|
NM_020822.3(KCNT1):c.1510+3G>A
|
rs1832520059
|
|
|
NM_020822.3(KCNT1):c.1510+5G>A
|
|
|
|
NM_020822.3(KCNT1):c.1510+8T>G
|
|
|
|
NM_020822.3(KCNT1):c.151G>A (p.Gly51Ser)
|
|
|
|
NM_020822.3(KCNT1):c.1525GAG[2] (p.Glu511del)
|
|
|
|
NM_020822.3(KCNT1):c.1534T>C (p.Cys512Arg)
|
rs1832635534
|
|
|
NM_020822.3(KCNT1):c.1540_1543dup (p.Ala515fs)
|
|
|
|
NM_020822.3(KCNT1):c.1568_1585dup (p.Thr528_Leu529insArgProAlaThrSerThr)
|
|
|
|
NM_020822.3(KCNT1):c.1571C>T (p.Pro524Leu)
|
|
|
|
NM_020822.3(KCNT1):c.1585C>G (p.Leu529Val)
|
|
|
|
NM_020822.3(KCNT1):c.15C>G (p.Asp5Glu)
|
|
|
|
NM_020822.3(KCNT1):c.1609T>A (p.Ser537Thr)
|
|
|
|
NM_020822.3(KCNT1):c.1610C>A (p.Ser537Tyr)
|
|
|
|
NM_020822.3(KCNT1):c.1612C>A (p.Arg538Ser)
|
|
|
|
NM_020822.3(KCNT1):c.1619+5G>A
|
|
|
|
NM_020822.3(KCNT1):c.1619+6T>A
|
rs1328836350
|
|
|
NM_020822.3(KCNT1):c.1620-14_1620-4dup
|
|
|
|
NM_020822.3(KCNT1):c.1620-3C>T
|
|
|
|
NM_020822.3(KCNT1):c.1621G>A (p.Glu541Lys)
|
rs753040489
|
|
|
NM_020822.3(KCNT1):c.162G>T (p.Met54Ile)
|
rs2131329345
|
|
|
NM_020822.3(KCNT1):c.1636C>G (p.Pro546Ala)
|
rs894604084
|
|
|
NM_020822.3(KCNT1):c.1645T>G (p.Trp549Gly)
|
rs1564370162
|
|
|
NM_020822.3(KCNT1):c.1651C>T (p.Arg551Cys)
|
rs749316999
|
|
|
NM_020822.3(KCNT1):c.1652G>A (p.Arg551His)
|
rs567764094
|
|
|
NM_020822.3(KCNT1):c.1654A>G (p.Met552Val)
|
rs2131507644
|
|
|
NM_020822.3(KCNT1):c.1672G>T (p.Gly558Cys)
|
rs1564370223
|
|
|
NM_020822.3(KCNT1):c.1675A>C (p.Asn559His)
|
|
|
|
NM_020822.3(KCNT1):c.1678G>A (p.Glu560Lys)
|
rs765969410
|
|
|
NM_020822.3(KCNT1):c.1684T>C (p.Tyr562His)
|
|
|
|
NM_020822.3(KCNT1):c.1685A>G (p.Tyr562Cys)
|
rs1832668143
|
|
|
NM_020822.3(KCNT1):c.1693C>T (p.Arg565Cys)
|
|
|
|
NM_020822.3(KCNT1):c.1696A>G (p.Met566Val)
|
rs1832669452
|
|
|
NM_020822.3(KCNT1):c.1697T>C (p.Met566Thr)
|
rs1832669667
|
|
|
NM_020822.3(KCNT1):c.1698_1699delinsTA (p.Met566_Gly567delinsIleSer)
|
rs1554774874
|
|
|
NM_020822.3(KCNT1):c.16G>C (p.Gly6Arg)
|
rs773874266
|
|
|
NM_020822.3(KCNT1):c.1703A>G (p.Asp568Gly)
|
|
|
|
NM_020822.3(KCNT1):c.1719C>T (p.Arg573=)
|
|
|
|
NM_020822.3(KCNT1):c.1742C>T (p.Thr581Ile)
|
|
|
|
NM_020822.3(KCNT1):c.1745A>G (p.Tyr582Cys)
|
rs1832673206
|
|
|
NM_020822.3(KCNT1):c.1748C>G (p.Ala583Gly)
|
rs1554774904
|
|
|
NM_020822.3(KCNT1):c.1748C>T (p.Ala583Val)
|
rs1554774904
|
|
|
NM_020822.3(KCNT1):c.1758C>A (p.His586Gln)
|
rs142760483
|
|
|
NM_020822.3(KCNT1):c.1760C>T (p.Ala587Val)
|
rs2131508404
|
|
|
NM_020822.3(KCNT1):c.1762C>T (p.His588Tyr)
|
|
|
|
NM_020822.3(KCNT1):c.1769+6G>A
|
rs927454585
|
|
|
NM_020822.3(KCNT1):c.1770-3C>T
|
|
|
|
NM_020822.3(KCNT1):c.1770-7_1785dup
|
|
|
|
NM_020822.3(KCNT1):c.1777G>C (p.Val593Leu)
|
|
|
|
NM_020822.3(KCNT1):c.1788C>G (p.Ile596Met)
|
|
|
|
NM_020822.3(KCNT1):c.1789G>A (p.Gly597Arg)
|
|
|
|
NM_020822.3(KCNT1):c.1806CAA[1] (p.Asn603del)
|
rs752708934
|
|
|
NM_020822.3(KCNT1):c.1809C>A (p.Asn603Lys)
|
|
|
|
NM_020822.3(KCNT1):c.1811A>C (p.Lys604Thr)
|
|
|
|
NM_020822.3(KCNT1):c.1815C>A (p.Ser605Arg)
|
rs113201678
|
|
|
NM_020822.3(KCNT1):c.1828C>A (p.Pro610Thr)
|
|
|
|
NM_020822.3(KCNT1):c.1831G>C (p.Gly611Arg)
|
|
|
|
NM_020822.3(KCNT1):c.1833del (p.Arg613fs)
|
rs1832711486
|
|
|
NM_020822.3(KCNT1):c.1852G>C (p.Ala618Pro)
|
|
|
|
NM_020822.3(KCNT1):c.1853C>T (p.Ala618Val)
|
rs1832713510
|
|
|
NM_020822.3(KCNT1):c.1862C>A (p.Thr621Asn)
|
rs151006970
|
|
|
NM_020822.3(KCNT1):c.1862C>T (p.Thr621Ile)
|
rs151006970
|
|
|
NM_020822.3(KCNT1):c.1870T>C (p.Tyr624His)
|
rs1832714833
|
|
|
NM_020822.3(KCNT1):c.1873A>G (p.Ile625Val)
|
|
|
|
NM_020822.3(KCNT1):c.1874T>A (p.Ile625Asn)
|
|
|
|
NM_020822.3(KCNT1):c.188C>T (p.Pro63Leu)
|
|
|
|
NM_020822.3(KCNT1):c.1891del (p.Glu631fs)
|
rs1171823087
|
|
|
NM_020822.3(KCNT1):c.1892_1900del (p.Glu631_Ser633del)
|
rs2131511280
|
|
|
NM_020822.3(KCNT1):c.1898C>T (p.Ser633Leu)
|
rs377750450
|
|
|
NM_020822.3(KCNT1):c.1912A>G (p.Lys638Glu)
|
rs1832717620
|
|
|
NM_020822.3(KCNT1):c.1940C>A (p.Ala647Asp)
|
rs550751778
|
|
|
NM_020822.3(KCNT1):c.1946C>G (p.Ser649Trp)
|
rs747671066
|
|
|
NM_020822.3(KCNT1):c.1954G>A (p.Gly652Arg)
|
rs1832720528
|
|
|
NM_020822.3(KCNT1):c.1955G>A (p.Gly652Glu)
|
rs536588045
|
|
|
NM_020822.3(KCNT1):c.1957_1958insACGGGC (p.Gly652_Leu653insHisGly)
|
|
|
|
NM_020822.3(KCNT1):c.195_254+851del
|
rs1835645943
|
|
|
NM_020822.3(KCNT1):c.1966G>A (p.Gly656Ser)
|
rs1832721615
|
|
|
NM_020822.3(KCNT1):c.196C>G (p.Pro66Ala)
|
|
|
|
NM_020822.3(KCNT1):c.1970C>G (p.Pro657Arg)
|
|
|
|
NM_020822.3(KCNT1):c.1975del (p.Arg659fs)
|
rs1832722657
|
|
|
NM_020822.3(KCNT1):c.1979T>C (p.Leu660Pro)
|
|
|
|
NM_020822.3(KCNT1):c.197C>T (p.Pro66Leu)
|
|
|
|
NM_020822.3(KCNT1):c.1982C>T (p.Pro661Leu)
|
rs2131511927
|
|
|
NM_020822.3(KCNT1):c.1984G>A (p.Val662Met)
|
rs757867931
|
|
|
NM_020822.3(KCNT1):c.1984G>C (p.Val662Leu)
|
|
|
|
NM_020822.3(KCNT1):c.1984G>T (p.Val662Leu)
|
rs757867931
|
|
|
NM_020822.3(KCNT1):c.1991G>A (p.Ser664Asn)
|
rs1832724038
|
|
|
NM_020822.3(KCNT1):c.1999G>A (p.Ala667Thr)
|
|
|
|
NM_020822.3(KCNT1):c.1999G>T (p.Ala667Ser)
|
|
|
|
NM_020822.3(KCNT1):c.199C>T (p.Arg67Cys)
|
rs1060503698
|
|
|
NM_020822.3(KCNT1):c.2008+15del
|
rs2131512215
|
|
|
NM_020822.3(KCNT1):c.2008+16C>T
|
|
|
|
NM_020822.3(KCNT1):c.2008+6C>A
|
|
|
|
NM_020822.3(KCNT1):c.2009-2A>G
|
rs1318491844
|
|
|
NM_020822.3(KCNT1):c.2009-3C>T
|
rs2131520063
|
|
|
NM_020822.3(KCNT1):c.2011A>G (p.Thr671Ala)
|
rs1364315508
|
|
|
NM_020822.3(KCNT1):c.2013A>C (p.Thr671=)
|
|
|
|
NM_020822.3(KCNT1):c.2061_2066del (p.Gly691_Gly692del)
|
rs754629346
|
|
|
NM_020822.3(KCNT1):c.2064_2069dup (p.Gly692_Ser693insGlyGly)
|
|
|
|
NM_020822.3(KCNT1):c.2071G>T (p.Gly691Trp)
|
|
|
|
NM_020822.3(KCNT1):c.2072G>A (p.Gly691Glu)
|
|
|
|
NM_020822.3(KCNT1):c.2084T>C (p.Leu695Pro)
|
|
|
|
NM_020822.3(KCNT1):c.2095A>G (p.Thr699Ala)
|
rs1832847354
|
|
|
NM_020822.3(KCNT1):c.2098G>C (p.Glu700Gln)
|
rs1554775570
|
|
|
NM_020822.3(KCNT1):c.2099_2103dup (p.Gly702fs)
|
|
|
|
NM_020822.3(KCNT1):c.20C>T (p.Ala7Val)
|
rs1044336128
|
|
|
NM_020822.3(KCNT1):c.2102A>G (p.Asn701Ser)
|
rs1588367542
|
|
|
NM_020822.3(KCNT1):c.2108C>T (p.Ser703Leu)
|
|
|
|
NM_020822.3(KCNT1):c.2120G>A (p.Arg707Gln)
|
rs1407599692
|
|
|
NM_020822.3(KCNT1):c.2122C>A (p.Pro708Thr)
|
rs892635002
|
|
|
NM_020822.3(KCNT1):c.2126G>A (p.Ser709Asn)
|
|
|
|
NM_020822.3(KCNT1):c.2131G>A (p.Ala711Thr)
|
rs1277141686
|
|
|
NM_020822.3(KCNT1):c.2132C>T (p.Ala711Val)
|
rs1312096992
|
|
|
NM_020822.3(KCNT1):c.2137G>T (p.Val713Phe)
|
|
|
|
NM_020822.3(KCNT1):c.2152G>T (p.Asp718Tyr)
|
|
|
|
NM_020822.3(KCNT1):c.2166_2170del (p.Pro724fs)
|
rs1832854272
|
|
|
NM_020822.3(KCNT1):c.2168_2175dup (p.Asp726fs)
|
|
|
|
NM_020822.3(KCNT1):c.2170_2184dup (p.Pro724_Leu728dup)
|
rs757605635
|
|
|
NM_020822.3(KCNT1):c.2188G>A (p.Asp730Asn)
|
rs752598622
|
|
|
NM_020822.3(KCNT1):c.2195C>T (p.Ser732Leu)
|
rs774281111
|
|
|
NM_020822.3(KCNT1):c.2198A>G (p.Glu733Gly)
|
rs2131521801
|
|
|
NM_020822.3(KCNT1):c.2198A>T (p.Glu733Val)
|
|
|
|
NM_020822.3(KCNT1):c.2204_2206del (p.Glu735del)
|
rs1832857720
|
|
|
NM_020822.3(KCNT1):c.2206_2211del (p.Val736_Thr737del)
|
rs781600347
|
|
|
NM_020822.3(KCNT1):c.2212C>T (p.Pro738Ser)
|
|
|
|
NM_020822.3(KCNT1):c.2222A>C (p.Asp741Ala)
|
rs756359375
|
|
|
NM_020822.3(KCNT1):c.2239G>A (p.Val747Ile)
|
|
|
|
NM_020822.3(KCNT1):c.2242G>T (p.Glu748Ter)
|
|
|
|
NM_020822.3(KCNT1):c.2243+6T>C
|
|
|
|
NM_020822.3(KCNT1):c.2244-1G>A
|
|
|
|
NM_020822.3(KCNT1):c.2248G>A (p.Val750Met)
|
rs2131534801
|
|
|
NM_020822.3(KCNT1):c.2268C>A (p.Asn756Lys)
|
|
|
|
NM_020822.3(KCNT1):c.2291C>T (p.Pro764Leu)
|
rs1833087099
|
|
|
NM_020822.3(KCNT1):c.2305C>T (p.Leu769Phe)
|
|
|
|
NM_020822.3(KCNT1):c.2323C>G (p.Pro775Ala)
|
rs751320619
|
|
|
NM_020822.3(KCNT1):c.2329TGC[1] (p.Cys778del)
|
rs1390654782
|
|
|
NM_020822.3(KCNT1):c.2378C>T (p.Ala793Val)
|
rs1833240649
|
|
|
NM_020822.3(KCNT1):c.2389G>A (p.Gly797Arg)
|
rs1233102018
|
|
|
NM_020822.3(KCNT1):c.238T>C (p.Phe80Leu)
|
rs1454449324
|
|
|
NM_020822.3(KCNT1):c.2407A>G (p.Ile803Val)
|
|
|
|
NM_020822.3(KCNT1):c.240C>G (p.Phe80Leu)
|
rs1554763398
|
|
|
NM_020822.3(KCNT1):c.2411T>C (p.Ile804Thr)
|
rs2131543567
|
|
|
NM_020822.3(KCNT1):c.241_246del (p.Gln81_Asn82del)
|
|
|
|
NM_020822.3(KCNT1):c.2426C>T (p.Thr809Met)
|
rs753288865
|
|
|
NM_020822.3(KCNT1):c.2435A>G (p.Asn812Ser)
|
rs1564380461
|
|
|
NM_020822.3(KCNT1):c.2446A>G (p.Asn816Asp)
|
rs2131543767
|
|
|
NM_020822.3(KCNT1):c.2449T>C (p.Phe817Leu)
|
rs1833245627
|
|
|
NM_020822.3(KCNT1):c.2464C>T (p.Arg822Trp)
|
rs746067661
|
|
|
NM_020822.3(KCNT1):c.2465G>A (p.Arg822Gln)
|
rs1833247008
|
|
|
NM_020822.3(KCNT1):c.2479T>A (p.Ser827Thr)
|
|
|
|
NM_020822.3(KCNT1):c.2480C>A (p.Ser827Tyr)
|
|
|
|
NM_020822.3(KCNT1):c.248A>G (p.Asp83Gly)
|
|
|
|
NM_020822.3(KCNT1):c.2503G>A (p.Val835Met)
|
rs753584318
|
|
|
NM_020822.3(KCNT1):c.250G>A (p.Asp84Asn)
|
|
|
|
NM_020822.3(KCNT1):c.2517CAA[1] (p.Asn840del)
|
rs1833249937
|
|
|
NM_020822.3(KCNT1):c.251A>G (p.Asp84Gly)
|
|
|
|
NM_020822.3(KCNT1):c.2522+3G>A
|
rs1588381370
|
|
|
NM_020822.3(KCNT1):c.2522+3G>T
|
|
|
|
NM_020822.3(KCNT1):c.2525C>T (p.Pro842Leu)
|
|
|
|
NM_020822.3(KCNT1):c.2527G>C (p.Asp843His)
|
rs376758763
|
|
|
NM_020822.3(KCNT1):c.254+3A>G
|
|
|
|
NM_020822.3(KCNT1):c.2543_2544insCCA (p.Glu848delinsAspGln)
|
|
|
|
NM_020822.3(KCNT1):c.2555G>T (p.Cys852Phe)
|
rs1474100198
|
|
|
NM_020822.3(KCNT1):c.2561C>T (p.Pro854Leu)
|
|
|
|
NM_020822.3(KCNT1):c.256G>A (p.Val86Ile)
|
rs1172819191
|
|
|
NM_020822.3(KCNT1):c.2575A>G (p.Met859Val)
|
|
|
|
NM_020822.3(KCNT1):c.2585C>G (p.Ser862Cys)
|
rs1564381972
|
|
|
NM_020822.3(KCNT1):c.2599G>A (p.Asp867Asn)
|
rs1424894748
|
|
|
NM_020822.3(KCNT1):c.2600A>G (p.Asp867Gly)
|
rs757223440
|
|
|
NM_020822.3(KCNT1):c.2615G>A (p.Cys872Tyr)
|
|
|
|
NM_020822.3(KCNT1):c.2620A>G (p.Ile874Val)
|
|
|
|
NM_020822.3(KCNT1):c.2621T>C (p.Ile874Thr)
|
|
|
|
NM_020822.3(KCNT1):c.2631G>A (p.Ala877=)
|
|
|
|
NM_020822.3(KCNT1):c.2634C>A (p.Asp878Glu)
|
|
|
|
NM_020822.3(KCNT1):c.2639TGG[3] (p.Val883del)
|
rs2131549532
|
|
|
NM_020822.3(KCNT1):c.2647G>A (p.Val883Met)
|
|
|
|
NM_020822.3(KCNT1):c.2653A>G (p.Lys885Glu)
|
rs974652934
|
|
|
NM_020822.3(KCNT1):c.2680G>T (p.Asp894Tyr)
|
|
|
|
NM_020822.3(KCNT1):c.2690C>T (p.Ala897Val)
|
|
|
|
NM_020822.3(KCNT1):c.2695G>A (p.Ala899Thr)
|
rs778647834
|
|
|
NM_020822.3(KCNT1):c.2695G>T (p.Ala899Ser)
|
|
|
|
NM_020822.3(KCNT1):c.26C>A (p.Thr9Asn)
|
|
|
|
NM_020822.3(KCNT1):c.26C>T (p.Thr9Ile)
|
rs771423997
|
|
|
NM_020822.3(KCNT1):c.2708T>A (p.Val903Asp)
|
|
|
|
NM_020822.3(KCNT1):c.2727C>A (p.Phe909Leu)
|
|
|
|
NM_020822.3(KCNT1):c.2729G>T (p.Arg910Leu)
|
|
|
|
NM_020822.3(KCNT1):c.2730-18G>C
|
|
|
|
NM_020822.3(KCNT1):c.2734_2745dup (p.Leu915_Ser916insPheProSerLeu)
|
|
|
|
NM_020822.3(KCNT1):c.2746A>G (p.Ser916Gly)
|
|
|
|
NM_020822.3(KCNT1):c.2749A>G (p.Ile917Val)
|
rs2131552837
|
|
|
NM_020822.3(KCNT1):c.2767C>T (p.His923Tyr)
|
|
|
|
NM_020822.3(KCNT1):c.2779A>T (p.Met927Leu)
|
rs1486195544
|
|
|
NM_020822.3(KCNT1):c.2780T>C (p.Met927Thr)
|
|
|
|
NM_020822.3(KCNT1):c.278A>G (p.Asn93Ser)
|
|
|
|
NM_020822.3(KCNT1):c.2798G>A (p.Arg933His)
|
rs1023136319
|
|
|
NM_020822.3(KCNT1):c.2804A>G (p.Lys935Arg)
|
rs1414528567
|
|
|
NM_020822.3(KCNT1):c.2812T>A (p.Tyr938Asn)
|
rs1833441002
|
|
|
NM_020822.3(KCNT1):c.2819T>C (p.Leu940Pro)
|
|
|
|
NM_020822.3(KCNT1):c.2824C>G (p.Leu942Val)
|
rs1833442352
|
|
|
NM_020822.3(KCNT1):c.2828C>T (p.Ser943Phe)
|
rs1833442719
|
|
|
NM_020822.3(KCNT1):c.2830A>C (p.Lys944Gln)
|
|
|
|
NM_020822.3(KCNT1):c.2841+5G>A
|
|
|
|
NM_020822.3(KCNT1):c.2843G>C (p.Arg948Thr)
|
rs755704046
|
|
|
NM_020822.3(KCNT1):c.2869G>T (p.Ala957Ser)
|
rs1277322108
|
|
|
NM_020822.3(KCNT1):c.2876T>C (p.Met959Thr)
|
rs1318262895
|
|
|
NM_020822.3(KCNT1):c.2887C>G (p.Pro963Ala)
|
rs2131571194
|
|
|
NM_020822.3(KCNT1):c.2888C>T (p.Pro963Leu)
|
rs997774104
|
|
|
NM_020822.3(KCNT1):c.2893G>A (p.Ala965Thr)
|
|
|
|
NM_020822.3(KCNT1):c.2896G>A (p.Ala966Thr)
|
|
|
|
NM_020822.3(KCNT1):c.28C>G (p.Pro10Ala)
|
|
|
|
NM_020822.3(KCNT1):c.2903G>T (p.Arg968Leu)
|
rs1325608473
|
|
|
NM_020822.3(KCNT1):c.2910CAGCAT[3] (p.Ser973_Met974insIleSer)
|
|
|
|
NM_020822.3(KCNT1):c.2912G>C (p.Ser971Thr)
|
rs1279003717
|
|
|
NM_020822.3(KCNT1):c.2919C>T (p.Ser973=)
|
|
|
|
NM_020822.3(KCNT1):c.2944-21_2944-6del
|
|
|
|
NM_020822.3(KCNT1):c.2944-3C>T
|
rs1554779944
|
|
|
NM_020822.3(KCNT1):c.2950G>C (p.Val984Leu)
|
|
|
|
NM_020822.3(KCNT1):c.2955G>C (p.Lys985Asn)
|
rs1833883179
|
|
|
NM_020822.3(KCNT1):c.2960A>G (p.Tyr987Cys)
|
|
|
|
NM_020822.3(KCNT1):c.2968A>G (p.Thr990Ala)
|
rs1833884066
|
|
|
NM_020822.3(KCNT1):c.2978G>A (p.Arg993Gln)
|
rs1833885872
|
|
|
NM_020822.3(KCNT1):c.3011C>G (p.Ser1004Trp)
|
|
|
|
NM_020822.3(KCNT1):c.3017A>C (p.Tyr1006Ser)
|
rs1833891089
|
|
|
NM_020822.3(KCNT1):c.3023G>A (p.Cys1008Tyr)
|
|
|
|
NM_020822.3(KCNT1):c.3028-2A>T
|
rs2131575343
|
|
|
NM_020822.3(KCNT1):c.3028-5T>G
|
rs755073132
|
|
|
NM_020822.3(KCNT1):c.3040G>A (p.Glu1014Lys)
|
|
|
|
NM_020822.3(KCNT1):c.3046G>T (p.Asp1016Tyr)
|
rs779908455
|
|
|
NM_020822.3(KCNT1):c.304A>G (p.Lys102Glu)
|
|
|
|
NM_020822.3(KCNT1):c.3050T>C (p.Leu1017Pro)
|
rs1450164108
|
|
|
NM_020822.3(KCNT1):c.3078C>G (p.Phe1026Leu)
|
rs1588401995
|
|
|
NM_020822.3(KCNT1):c.3092C>T (p.Ser1031Phe)
|
rs750371003
|
|
|
NM_020822.3(KCNT1):c.3112A>G (p.Ile1038Val)
|
|
|
|
NM_020822.3(KCNT1):c.3119T>C (p.Ile1040Thr)
|
|
|
|
NM_020822.3(KCNT1):c.3124C>T (p.Arg1042Trp)
|
rs772472766
|
|
|
NM_020822.3(KCNT1):c.3128C>G (p.Thr1043Arg)
|
|
|
|
NM_020822.3(KCNT1):c.3128C>T (p.Thr1043Ile)
|
|
|
|
NM_020822.3(KCNT1):c.3132G>C (p.Glu1044Asp)
|
rs771326200
|
|
|
NM_020822.3(KCNT1):c.3134G>A (p.Ser1045Asn)
|
|
|
|
NM_020822.3(KCNT1):c.3139G>A (p.Val1047Ile)
|
rs760000324
|
|
|
NM_020822.3(KCNT1):c.3145T>G (p.Ser1049Ala)
|
|
|
|
NM_020822.3(KCNT1):c.3145_3147del (p.Ser1049del)
|
rs758292147
|
|
|
NM_020822.3(KCNT1):c.3152C>A (p.Ser1051Ter)
|
rs375749415
|
|
|
NM_020822.3(KCNT1):c.3156+3T>C
|
rs2131575984
|
|
|
NM_020822.3(KCNT1):c.3156+5T>C
|
rs2131575991
|
|
|
NM_020822.3(KCNT1):c.3156+6G>C
|
rs1474671973
|
|
|
NM_020822.3(KCNT1):c.3157C>T (p.Pro1053Ser)
|
rs1833952592
|
|
|
NM_020822.3(KCNT1):c.3163G>T (p.Asp1055Tyr)
|
|
|
|
NM_020822.3(KCNT1):c.3172G>A (p.Ala1058Thr)
|
rs1564392375
|
|
|
NM_020822.3(KCNT1):c.3173C>T (p.Ala1058Val)
|
rs757774262
|
|
|
NM_020822.3(KCNT1):c.3174C>T (p.Ala1058=)
|
rs2131577612
|
|
|
NM_020822.3(KCNT1):c.3176A>G (p.Gln1059Arg)
|
|
|
|
NM_020822.3(KCNT1):c.3177+6C>T
|
|
|
|
NM_020822.3(KCNT1):c.3177_3177+22dup
|
rs1833953810
|
|
|
NM_020822.3(KCNT1):c.3178-12_3180dup
|
|
|
|
NM_020822.3(KCNT1):c.3178-1G>A
|
|
|
|
NM_020822.3(KCNT1):c.3178-5_3178-1dup
|
rs772240955
|
|
|
NM_020822.3(KCNT1):c.3178-7T>A
|
|
|
|
NM_020822.3(KCNT1):c.3178-7_3180dup
|
|
|
|
NM_020822.3(KCNT1):c.3178T>C (p.Ser1060Pro)
|
|
|
|
NM_020822.3(KCNT1):c.3179C>T (p.Ser1060Phe)
|
rs758653391
|
|
|
NM_020822.3(KCNT1):c.3184_3210dup (p.Glu1070_Asp1071insIleSerValAsnValGluAspCysGlu)
|
|
|
|
NM_020822.3(KCNT1):c.3185T>C (p.Ile1062Thr)
|
rs1588407407
|
|
|
NM_020822.3(KCNT1):c.3188C>T (p.Ser1063Leu)
|
rs1161728281
|
|
|
NM_020822.3(KCNT1):c.3202G>A (p.Asp1068Asn)
|
rs1834036491
|
|
|
NM_020822.3(KCNT1):c.3205T>A (p.Cys1069Ser)
|
rs781225639
|
|
|
NM_020822.3(KCNT1):c.3206G>A (p.Cys1069Tyr)
|
|
|
|
NM_020822.3(KCNT1):c.3217C>T (p.Arg1073Trp)
|
rs768536067
|
|
|
NM_020822.3(KCNT1):c.3218G>C (p.Arg1073Pro)
|
rs747837141
|
|
|
NM_020822.3(KCNT1):c.3232C>T (p.Pro1078Ser)
|
rs1834038347
|
|
|
NM_020822.3(KCNT1):c.3244C>G (p.Arg1082Gly)
|
rs776232246
|
|
|
NM_020822.3(KCNT1):c.3247G>C (p.Ala1083Pro)
|
rs917893164
|
|
|
NM_020822.3(KCNT1):c.324C>A (p.Asn108Lys)
|
|
|
|
NM_020822.3(KCNT1):c.3281C>G (p.Thr1094Arg)
|
|
|
|
NM_020822.3(KCNT1):c.3290G>T (p.Gly1097Val)
|
|
|
|
NM_020822.3(KCNT1):c.3299C>T (p.Ala1100Val)
|
|
|
|
NM_020822.3(KCNT1):c.3306C>A (p.His1102Gln)
|
|
|
|
NM_020822.3(KCNT1):c.3307C>A (p.Pro1103Thr)
|
rs1347095932
|
|
|
NM_020822.3(KCNT1):c.3316C>T (p.Arg1106Trp)
|
rs542409033
|
|
|
NM_020822.3(KCNT1):c.3318_3320dup (p.Arg1107_Lys1108insArg)
|
|
|
|
NM_020822.3(KCNT1):c.3338C>A (p.Ala1113Asp)
|
rs1193627908
|
|
|
NM_020822.3(KCNT1):c.334+8G>A
|
|
|
|
NM_020822.3(KCNT1):c.3340C>G (p.Arg1114Gly)
|
rs370085077
|
|
|
NM_020822.3(KCNT1):c.3346C>A (p.Leu1116Met)
|
|
|
|
NM_020822.3(KCNT1):c.335-5C>A
|
rs745658927
|
|
|
NM_020822.3(KCNT1):c.3352C>T (p.Arg1118Cys)
|
|
|
|
NM_020822.3(KCNT1):c.3356A>C (p.Lys1119Thr)
|
|
|
|
NM_020822.3(KCNT1):c.3361C>T (p.Pro1121Ser)
|
|
|
|
NM_020822.3(KCNT1):c.3374G>A (p.Gly1125Asp)
|
rs1316682933
|
|
|
NM_020822.3(KCNT1):c.3374G>C (p.Gly1125Ala)
|
|
|
|
NM_020822.3(KCNT1):c.3385G>A (p.Ala1129Thr)
|
rs1834052820
|
|
|
NM_020822.3(KCNT1):c.3385G>T (p.Ala1129Ser)
|
|
|
|
NM_020822.3(KCNT1):c.3388G>T (p.Ala1130Ser)
|
rs138421850
|
|
|
NM_020822.3(KCNT1):c.338T>A (p.Leu113Gln)
|
rs1588309597
|
|
|
NM_020822.3(KCNT1):c.3391G>A (p.Glu1131Lys)
|
rs2131582676
|
|
|
NM_020822.3(KCNT1):c.3396G>T (p.Trp1132Cys)
|
|
|
|
NM_020822.3(KCNT1):c.3397A>T (p.Ile1133Phe)
|
rs1408375707
|
|
|
NM_020822.3(KCNT1):c.3409C>A (p.Arg1137Ser)
|
|
|
|
NM_020822.3(KCNT1):c.3412C>A (p.Leu1138Ile)
|
|
|
|
NM_020822.3(KCNT1):c.3418C>A (p.Leu1140Met)
|
rs1237797436
|
|
|
NM_020822.3(KCNT1):c.3419T>A (p.Leu1140Gln)
|
rs774987263
|
|
|
NM_020822.3(KCNT1):c.3427C>A (p.Arg1143Ser)
|
rs760923308
|
|
|
NM_020822.3(KCNT1):c.3427C>T (p.Arg1143Cys)
|
|
|
|
NM_020822.3(KCNT1):c.3430T>C (p.Ser1144Pro)
|
rs2131582898
|
|
|
NM_020822.3(KCNT1):c.3433G>A (p.Glu1145Lys)
|
|
|
|
NM_020822.3(KCNT1):c.3441G>C (p.Gln1147His)
|
|
|
|
NM_020822.3(KCNT1):c.3451G>C (p.Glu1151Gln)
|
|
|
|
NM_020822.3(KCNT1):c.3460_3461delinsGT (p.Lys1154Val)
|
rs1834060931
|
|
|
NM_020822.3(KCNT1):c.3464A>G (p.Asn1155Ser)
|
|
|
|
NM_020822.3(KCNT1):c.3466C>T (p.Arg1156Cys)
|
|
|
|
NM_020822.3(KCNT1):c.3493A>G (p.Thr1165Ala)
|
rs549276113
|
|
|
NM_020822.3(KCNT1):c.3494C>T (p.Thr1165Ile)
|
rs748679465
|
|
|
NM_020822.3(KCNT1):c.34G>A (p.Gly12Ser)
|
rs1445337149
|
|
|
NM_020822.3(KCNT1):c.3514G>A (p.Asp1172Asn)
|
|
|
|
NM_020822.3(KCNT1):c.3516CCA[3] (p.His1173dup)
|
rs1290067674
|
|
|
NM_020822.3(KCNT1):c.3525C>G (p.Asn1175Lys)
|
rs139454881
|
|
|
NM_020822.3(KCNT1):c.3526A>G (p.Thr1176Ala)
|
|
|
|
NM_020822.3(KCNT1):c.3529C>G (p.Leu1177Val)
|
rs1474508355
|
|
|
NM_020822.3(KCNT1):c.3529C>T (p.Leu1177Phe)
|
|
|
|
NM_020822.3(KCNT1):c.3544A>C (p.Ile1182Leu)
|
rs1161862851
|
|
|
NM_020822.3(KCNT1):c.3559G>A (p.Asp1187Asn)
|
|
|
|
NM_020822.3(KCNT1):c.3559G>C (p.Asp1187His)
|
rs142875411
|
|
|
NM_020822.3(KCNT1):c.3561C>A (p.Asp1187Glu)
|
rs773695396
|
|
|
NM_020822.3(KCNT1):c.3574C>T (p.Pro1192Ser)
|
rs1445788992
|
|
|
NM_020822.3(KCNT1):c.3579T>G (p.Ser1193Arg)
|
|
|
|
NM_020822.3(KCNT1):c.357C>A (p.Asn119Lys)
|
rs1831125430
|
|
|
NM_020822.3(KCNT1):c.3581A>G (p.Asp1194Gly)
|
rs2131604934
|
|
|
NM_020822.3(KCNT1):c.3583A>C (p.Ile1195Leu)
|
|
|
|
NM_020822.3(KCNT1):c.35dup (p.Val13fs)
|
rs1835063072
|
|
|
NM_020822.3(KCNT1):c.3601T>A (p.Ser1201Thr)
|
|
|
|
NM_020822.3(KCNT1):c.3601T>C (p.Ser1201Pro)
|
|
|
|
NM_020822.3(KCNT1):c.3603C>A (p.Ser1201=)
|
rs769180686
|
|
|
NM_020822.3(KCNT1):c.3606C>A (p.Asp1202Glu)
|
rs140628824
|
|
|
NM_020822.3(KCNT1):c.3608C>A (p.Pro1203His)
|
rs762025166
|
|
|
NM_020822.3(KCNT1):c.360C>G (p.Phe120Leu)
|
|
|
|
NM_020822.3(KCNT1):c.3614C>G (p.Ala1205Gly)
|
|
|
|
NM_020822.3(KCNT1):c.3630C>A (p.Ser1210Arg)
|
|
|
|
NM_020822.3(KCNT1):c.3634C>A (p.Gln1212Lys)
|
rs1554782444
|
|
|
NM_020822.3(KCNT1):c.3634C>T (p.Gln1212Ter)
|
|
|
|
NM_020822.3(KCNT1):c.3646A>C (p.Ser1216Arg)
|
rs1834583130
|
|
|
NM_020822.3(KCNT1):c.3649A>G (p.Ser1217Gly)
|
rs2131606216
|
|
|
NM_020822.3(KCNT1):c.3650G>T (p.Ser1217Ile)
|
|
|
|
NM_020822.3(KCNT1):c.3661A>G (p.Lys1221Glu)
|
|
|
|
NM_020822.3(KCNT1):c.3662A>G (p.Lys1221Arg)
|
rs1834585051
|
|
|
NM_020822.3(KCNT1):c.3666GTC[1] (p.Ser1224del)
|
|
|
|
NM_020822.3(KCNT1):c.3679C>G (p.Pro1227Ala)
|
|
|
|
NM_020822.3(KCNT1):c.3679_3690del (p.Pro1227_Arg1230del)
|
|
|
|
NM_020822.3(KCNT1):c.3688C>G (p.Arg1230Gly)
|
|
|
|
NM_020822.3(KCNT1):c.3696G>C (p.Glu1232Asp)
|
|
|
|
NM_020822.3(KCNT1):c.3700_3701del (p.Gln1234fs)
|
rs1834589533
|
|
|
NM_020822.3(KCNT1):c.385C>A (p.Leu129Ile)
|
rs1402206752
|
|
|
NM_020822.3(KCNT1):c.385C>G (p.Leu129Val)
|
rs1402206752
|
|
|
NM_020822.3(KCNT1):c.38T>C (p.Val13Ala)
|
rs764111643
|
|
|
NM_020822.3(KCNT1):c.394G>A (p.Val132Met)
|
|
|
|
NM_020822.3(KCNT1):c.397C>T (p.Arg133Cys)
|
|
|
|
NM_020822.3(KCNT1):c.400G>T (p.Val134Phe)
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rs766663683
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NM_020822.3(KCNT1):c.406C>T (p.Leu136Phe)
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NM_020822.3(KCNT1):c.416C>T (p.Pro139Leu)
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NM_020822.3(KCNT1):c.419C>T (p.Ala140Val)
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rs2131411420
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NM_020822.3(KCNT1):c.426C>T (p.Gly142=)
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NM_020822.3(KCNT1):c.427A>G (p.Ile143Val)
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NM_020822.3(KCNT1):c.429C>A (p.Ile143=)
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rs767429133
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NM_020822.3(KCNT1):c.433T>C (p.Cys145Arg)
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NM_020822.3(KCNT1):c.434G>A (p.Cys145Tyr)
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rs1831132002
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NM_020822.3(KCNT1):c.44G>A (p.Arg15Gln)
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rs373446490
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NM_020822.3(KCNT1):c.451C>G (p.Gln151Glu)
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NM_020822.3(KCNT1):c.457T>C (p.Tyr153His)
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rs757995472
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NM_020822.3(KCNT1):c.464T>C (p.Phe155Ser)
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NM_020822.3(KCNT1):c.46G>A (p.Glu16Lys)
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NM_020822.3(KCNT1):c.46G>C (p.Glu16Gln)
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rs1835063926
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NM_020822.3(KCNT1):c.476C>T (p.Ser159Phe)
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rs2131422984
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NM_020822.3(KCNT1):c.488A>G (p.Asn163Ser)
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NM_020822.3(KCNT1):c.492-3C>A
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rs1831398385
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NM_020822.3(KCNT1):c.493G>A (p.Ala165Thr)
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rs149908455
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NM_020822.3(KCNT1):c.4C>T (p.Pro2Ser)
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rs748898708
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NM_020822.3(KCNT1):c.513_516del (p.Arg172_Lys173insTer)
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rs1831399744
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NM_020822.3(KCNT1):c.518A>G (p.Lys173Arg)
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rs1028292080
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NM_020822.3(KCNT1):c.524C>T (p.Thr175Ile)
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NM_020822.3(KCNT1):c.540G>A (p.Gln180=)
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NM_020822.3(KCNT1):c.553A>G (p.Ile185Val)
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rs2131434707
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NM_020822.3(KCNT1):c.555A>G (p.Ile185Met)
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rs1588321846
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NM_020822.3(KCNT1):c.556A>G (p.Ile186Val)
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rs1831515095
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NM_020822.3(KCNT1):c.558A>G (p.Ile186Met)
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NM_020822.3(KCNT1):c.55G>C (p.Gly19Arg)
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NM_020822.3(KCNT1):c.56_75dup (p.Thr26fs)
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NM_020822.3(KCNT1):c.572C>T (p.Thr191Met)
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rs1429039180
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NM_020822.3(KCNT1):c.589C>T (p.Leu197Phe)
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NM_020822.3(KCNT1):c.58G>C (p.Gly20Arg)
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rs2131304181
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NM_020822.3(KCNT1):c.593G>C (p.Ser198Thr)
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NM_020822.3(KCNT1):c.600+3G>A
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NM_020822.3(KCNT1):c.60_75del (p.Gly21fs)
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rs2131304179
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NM_020822.3(KCNT1):c.612G>T (p.Trp204Cys)
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NM_020822.3(KCNT1):c.616C>T (p.Gln206Ter)
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rs1192150242
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NM_020822.3(KCNT1):c.616_618del (p.Gln206del)
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NM_020822.3(KCNT1):c.619A>G (p.Ile207Val)
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NM_020822.3(KCNT1):c.626G>T (p.Arg209Leu)
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NM_020822.3(KCNT1):c.62G>A (p.Gly21Asp)
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rs368870705
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NM_020822.3(KCNT1):c.62del (p.Gly21fs)
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NM_020822.3(KCNT1):c.648G>A (p.Met216Ile)
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NM_020822.3(KCNT1):c.651C>G (p.Ile217Met)
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rs1217512521
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NM_020822.3(KCNT1):c.658C>G (p.Leu220Val)
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NM_020822.3(KCNT1):c.675+17_676-22del
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NM_020822.3(KCNT1):c.67A>C (p.Thr23Pro)
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NM_020822.3(KCNT1):c.686C>T (p.Pro229Leu)
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NM_020822.3(KCNT1):c.694C>T (p.Arg232Trp)
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NM_020822.3(KCNT1):c.695G>A (p.Arg232Gln)
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NM_020822.3(KCNT1):c.701T>A (p.Leu234Gln)
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rs201583448
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NM_020822.3(KCNT1):c.704del (p.Phe235fs)
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rs1187172120
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NM_020822.3(KCNT1):c.70A>C (p.Asn24His)
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NM_020822.3(KCNT1):c.742G>A (p.Ala248Thr)
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NM_020822.3(KCNT1):c.748G>C (p.Glu250Gln)
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NM_020822.3(KCNT1):c.752del (p.Asn251fs)
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NM_020822.3(KCNT1):c.754A>T (p.Met252Leu)
|
rs755782470
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NM_020822.3(KCNT1):c.763G>A (p.Asp255Asn)
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NM_020822.3(KCNT1):c.763del (p.Asp255fs)
|
rs755630818
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NM_020822.3(KCNT1):c.772C>T (p.Arg258Cys)
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NM_020822.3(KCNT1):c.773G>A (p.Arg258His)
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NM_020822.3(KCNT1):c.775G>T (p.Ala259Ser)
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NM_020822.3(KCNT1):c.779T>C (p.Ile260Thr)
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NM_020822.3(KCNT1):c.790C>A (p.Gln264Lys)
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NM_020822.3(KCNT1):c.790C>T (p.Gln264Ter)
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NM_020822.3(KCNT1):c.793_796del (p.Ser265fs)
|
rs764041770
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NM_020822.3(KCNT1):c.797C>T (p.Ala266Val)
|
rs1341175923
|
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NM_020822.3(KCNT1):c.7C>T (p.Leu3Phe)
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NM_020822.3(KCNT1):c.814C>A (p.Leu272Ile)
|
rs757884130
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NM_020822.3(KCNT1):c.814C>T (p.Leu272Phe)
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NM_020822.3(KCNT1):c.817A>G (p.Ile273Val)
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NM_020822.3(KCNT1):c.819C>G (p.Ile273Met)
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NM_020822.3(KCNT1):c.81C>A (p.Phe27Leu)
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NM_020822.3(KCNT1):c.825C>G (p.Phe275Leu)
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NM_020822.3(KCNT1):c.82_84del (p.Glu28del)
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NM_020822.3(KCNT1):c.839G>A (p.Cys280Tyr)
|
rs1160972448
|
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NM_020822.3(KCNT1):c.844G>A (p.Val282Ile)
|
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NM_020822.3(KCNT1):c.855-10G>A
|
rs1057521940
|
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NM_020822.3(KCNT1):c.855-9G>A
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NM_020822.3(KCNT1):c.855G>C (p.Gly285=)
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NM_020822.3(KCNT1):c.85T>C (p.Phe29Leu)
|
rs1406826181
|
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NM_020822.3(KCNT1):c.881G>A (p.Arg294Gln)
|
|
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NM_020822.3(KCNT1):c.886G>A (p.Gly296Ser)
|
rs1831777941
|
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NM_020822.3(KCNT1):c.898T>C (p.Ser300Pro)
|
rs1564356207
|
|
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NM_020822.3(KCNT1):c.899C>T (p.Ser300Phe)
|
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NM_020822.3(KCNT1):c.908C>T (p.Thr303Ile)
|
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NM_020822.3(KCNT1):c.909_910delinsGA (p.Ser304Thr)
|
rs1060503697
|
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NM_020822.3(KCNT1):c.914T>C (p.Phe305Ser)
|
|
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NM_020822.3(KCNT1):c.943G>A (p.Val315Met)
|
|
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NM_020822.3(KCNT1):c.952G>A (p.Gly318Ser)
|
rs1831783786
|
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NM_020822.3(KCNT1):c.962C>T (p.Thr321Met)
|
rs1588330851
|
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NM_020822.3(KCNT1):c.968A>G (p.Lys323Arg)
|
rs978227077
|
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NM_020822.3(KCNT1):c.971T>A (p.Ile324Asn)
|
rs2131451388
|
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NM_020822.3(KCNT1):c.972C>G (p.Ile324Met)
|
rs1831785244
|
|
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NM_020822.3(KCNT1):c.973T>G (p.Trp325Gly)
|
|
|
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NM_020822.3(KCNT1):c.977C>T (p.Pro326Leu)
|
rs777106178
|
|
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NM_020822.3(KCNT1):c.980C>T (p.Ser327Leu)
|
rs1340962392
|
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NM_020822.3(KCNT1):c.997A>T (p.Ile333Phe)
|
|
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NM_020822.3(KCNT1):c.999C>G (p.Ile333Met)
|
rs764327750
|
|