|
NM_001037.5(SCN1B):c.448+181T>C
|
rs55742440
|
0.42428
|
|
NM_001037.5(SCN1B):c.40+15G>T
|
rs72556351
|
0.19938
|
|
NM_001037.5(SCN1B):c.*86A>C
|
rs2278996
|
0.14285
|
|
NM_001037.5(SCN1B):c.*42T>C
|
rs2278995
|
0.14069
|
|
NM_001037.5(SCN1B):c.448+296C>A
|
rs67701503
|
0.13979
|
|
NM_001037.5(SCN1B):c.*6-11C>G
|
rs28365105
|
0.05977
|
|
NM_001037.5(SCN1B):c.207+14G>A
|
rs16969924
|
0.02860
|
|
NM_001037.5(SCN1B):c.501T>C (p.Ile167=)
|
rs16969930
|
0.01942
|
|
NM_001037.5(SCN1B):c.591-14C>A
|
rs28365109
|
0.00920
|
|
NM_001037.5(SCN1B):c.*202C>T
|
rs72550275
|
0.00693
|
|
NM_001037.5(SCN1B):c.*454C>A
|
rs72550263
|
0.00642
|
|
NM_001037.5(SCN1B):c.*76G>T
|
rs367768639
|
0.00605
|
|
NM_001037.5(SCN1B):c.-9C>A
|
rs66671189
|
0.00603
|
|
NM_001037.5(SCN1B):c.-95C>T
|
rs569134158
|
0.00572
|
|
NM_001037.5(SCN1B):c.*102A>T
|
rs72550274
|
0.00564
|
|
NM_001037.5(SCN1B):c.300C>T (p.Asp100=)
|
rs16969927
|
0.00539
|
|
NM_001037.5(SCN1B):c.*401G>A
|
rs72550268
|
0.00514
|
|
NM_001037.5(SCN1B):c.28G>A (p.Gly10Ser)
|
rs72552027
|
0.00249
|
|
NM_001037.5(SCN1B):c.267C>T (p.Arg89=)
|
rs140949982
|
0.00232
|
|
NM_001037.5(SCN1B):c.448+193G>A
|
rs66876876
|
0.00227
|
|
NM_001037.5(SCN1B):c.*534C>T
|
rs72550266
|
0.00195
|
|
NM_001037.5(SCN1B):c.448+321G>A
|
rs72558028
|
0.00173
|
|
NM_001037.5(SCN1B):c.448+29C>T
|
rs186759145
|
0.00163
|
|
NM_001037.5(SCN1B):c.588T>C (p.Asn196=)
|
rs77244433
|
0.00117
|
|
NM_001037.5(SCN1B):c.5+7C>T
|
rs28365106
|
0.00091
|
|
NM_001037.5(SCN1B):c.351C>T (p.Gly117=)
|
rs3746255
|
0.00082
|
|
NM_001037.5(SCN1B):c.412G>A (p.Val138Ile)
|
rs72558029
|
0.00058
|
|
NM_001037.5(SCN1B):c.448+112G>A
|
rs72558026
|
0.00049
|
|
NM_001037.5(SCN1B):c.448+314C>A
|
rs373295182
|
0.00043
|
|
NM_001037.5(SCN1B):c.590+16G>A
|
rs201053958
|
0.00036
|
|
NM_001037.5(SCN1B):c.448+320C>T
|
rs570257058
|
0.00033
|
|
NM_001037.5(SCN1B):c.-88A>C
|
rs886054341
|
0.00022
|
|
NM_001037.5(SCN1B):c.*377C>T
|
rs376707835
|
0.00021
|
|
NM_001037.5(SCN1B):c.348G>A (p.Ser116=)
|
rs375050816
|
0.00021
|
|
NM_001037.5(SCN1B):c.448+345C>T
|
rs754815235
|
0.00021
|
|
NM_001037.5(SCN1B):c.632G>A (p.Cys211Tyr)
|
rs150721582
|
0.00021
|
|
NM_001037.5(SCN1B):c.207+7G>A
|
rs374588869
|
0.00016
|
|
NM_001037.5(SCN1B):c.*50C>T
|
rs925616600
|
0.00014
|
|
NM_001037.5(SCN1B):c.471C>T (p.Ile157=)
|
rs765269835
|
0.00014
|
|
NM_001037.5(SCN1B):c.-27G>C
|
rs758958222
|
0.00013
|
|
NM_001037.5(SCN1B):c.448+114C>G
|
rs1159393836
|
0.00012
|
|
NM_001037.5(SCN1B):c.448+40G>A
|
rs199685662
|
0.00011
|
|
NM_001037.5(SCN1B):c.448+189C>A
|
rs766373298
|
0.00009
|
|
NM_001037.5(SCN1B):c.457G>A (p.Asp153Asn)
|
rs72550247
|
0.00009
|
|
NM_001037.5(SCN1B):c.-123A>T
|
rs1034432673
|
0.00008
|
|
NM_001037.5(SCN1B):c.96T>C (p.Tyr32=)
|
rs143453040
|
0.00008
|
|
NM_001037.5(SCN1B):c.449-3C>A
|
rs370937269
|
0.00007
|
|
NM_001037.5(SCN1B):c.415G>A (p.Val139Ile)
|
rs560827790
|
0.00006
|
|
NM_001037.5(SCN1B):c.448+144A>G
|
rs763402433
|
0.00006
|
|
NM_001037.5(SCN1B):c.448+225C>T
|
rs369588692
|
0.00006
|
|
NM_001037.5(SCN1B):c.448+334G>A
|
rs766204907
|
0.00006
|
|
NM_001037.5(SCN1B):c.448+8G>C
|
rs200222933
|
0.00006
|
|
NM_001037.5(SCN1B):c.566C>T (p.Thr189Met)
|
rs2305748
|
0.00006
|
|
NM_001037.5(SCN1B):c.448+111C>T
|
rs758654948
|
0.00005
|
|
NM_001037.5(SCN1B):c.448+140G>A
|
rs775648401
|
0.00005
|
|
NM_001037.5(SCN1B):c.561C>T (p.Ala187=)
|
rs587781152
|
0.00005
|
|
NM_001037.5(SCN1B):c.-132C>G
|
rs886054339
|
0.00004
|
|
NM_001037.5(SCN1B):c.121A>G (p.Ile41Val)
|
rs72552028
|
0.00004
|
|
NM_001037.5(SCN1B):c.208-14C>T
|
rs72550272
|
0.00004
|
|
NM_001037.5(SCN1B):c.258C>T (p.Phe86=)
|
rs751009774
|
0.00004
|
|
NM_001037.5(SCN1B):c.265C>T (p.Arg89Cys)
|
rs766910280
|
0.00004
|
|
NM_001037.5(SCN1B):c.268G>A (p.Val90Met)
|
rs778461222
|
0.00004
|
|
NM_001037.5(SCN1B):c.448+299A>G
|
rs1027861663
|
0.00004
|
|
NM_001037.5(SCN1B):c.448+333C>T
|
rs946024438
|
0.00004
|
|
NM_001037.5(SCN1B):c.448+48A>C
|
rs757515975
|
0.00004
|
|
NM_001037.5(SCN1B):c.-93G>C
|
rs886054340
|
0.00003
|
|
NM_001037.5(SCN1B):c.134G>A (p.Arg45His)
|
rs180943300
|
0.00003
|
|
NM_001037.5(SCN1B):c.23T>C (p.Val8Ala)
|
rs786205833
|
0.00003
|
|
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp)
|
rs104894718
|
0.00003
|
|
NM_001037.5(SCN1B):c.366C>T (p.His122=)
|
rs761207251
|
0.00003
|
|
NM_001037.5(SCN1B):c.414C>T (p.Val138=)
|
rs757116018
|
0.00003
|
|
NM_001037.5(SCN1B):c.448+219C>G
|
rs754870200
|
0.00003
|
|
NM_001037.5(SCN1B):c.448+257G>C
|
rs1040023313
|
0.00003
|
|
NM_001037.5(SCN1B):c.448+308C>A
|
rs986180682
|
0.00003
|
|
NM_001037.5(SCN1B):c.448+30G>A
|
rs369058711
|
0.00003
|
|
NM_001037.5(SCN1B):c.448+311G>A
|
rs1019053238
|
0.00003
|
|
NM_001037.5(SCN1B):c.591-5C>T
|
rs1555721514
|
0.00003
|
|
NM_001037.5(SCN1B):c.64G>A (p.Val22Met)
|
rs745578106
|
0.00003
|
|
NM_001037.5(SCN1B):c.82A>G (p.Thr28Ala)
|
rs786205838
|
0.00003
|
|
NM_001037.5(SCN1B):c.90C>T (p.Ala30=)
|
rs753994622
|
0.00003
|
|
NM_001037.5(SCN1B):c.*378G>A
|
rs1462739595
|
0.00002
|
|
NM_001037.5(SCN1B):c.254G>A (p.Arg85His)
|
rs16969925
|
0.00002
|
|
NM_001037.5(SCN1B):c.287G>A (p.Arg96Gln)
|
rs372289648
|
0.00002
|
|
NM_001037.5(SCN1B):c.358G>A (p.Glu120Lys)
|
rs772112038
|
0.00002
|
|
NM_001037.5(SCN1B):c.367G>A (p.Val123Ile)
|
rs754215948
|
0.00002
|
|
NM_001037.5(SCN1B):c.408C>T (p.Thr136=)
|
rs200126026
|
0.00002
|
|
NM_001037.5(SCN1B):c.448+100G>T
|
rs779658201
|
0.00002
|
|
NM_001037.5(SCN1B):c.448+159C>T
|
rs774036126
|
0.00002
|
|
NM_001037.5(SCN1B):c.472G>C (p.Val158Leu)
|
rs138450474
|
0.00002
|
|
NM_001037.5(SCN1B):c.546C>T (p.Tyr182=)
|
rs775659068
|
0.00002
|
|
NM_001037.5(SCN1B):c.55G>A (p.Gly19Arg)
|
rs771386831
|
0.00002
|
|
NM_001037.5(SCN1B):c.585G>A (p.Glu195=)
|
rs753271148
|
0.00002
|
|
NM_001037.5(SCN1B):c.590C>T (p.Ala197Val)
|
rs554201948
|
0.00002
|
|
NM_001037.5(SCN1B):c.623A>T (p.Lys208Ile)
|
rs780958012
|
0.00002
|
|
NM_001037.5(SCN1B):c.636G>A (p.Thr212=)
|
rs763715229
|
0.00002
|
|
NM_001037.5(SCN1B):c.638G>A (p.Gly213Asp)
|
rs201209882
|
0.00002
|
|
NM_001037.5(SCN1B):c.63C>T (p.Cys21=)
|
rs200339565
|
0.00002
|
|
NM_001037.5(SCN1B):c.84C>T (p.Thr28=)
|
rs147616219
|
0.00002
|
|
NM_001037.5(SCN1B):c.*305C>T
|
rs950244470
|
0.00001
|
|
NM_001037.5(SCN1B):c.-31G>A
|
rs776361009
|
0.00001
|
|
NM_001037.5(SCN1B):c.133C>T (p.Arg45Cys)
|
rs757554677
|
0.00001
|
|
NM_001037.5(SCN1B):c.137G>T (p.Arg46Leu)
|
rs1024702691
|
0.00001
|
|
NM_001037.5(SCN1B):c.13C>A (p.Leu5Met)
|
rs1064796847
|
0.00001
|
|
NM_001037.5(SCN1B):c.141C>T (p.Ser47=)
|
rs769535020
|
0.00001
|
|
NM_001037.5(SCN1B):c.150C>T (p.Asn50=)
|
rs147073518
|
0.00001
|
|
NM_001037.5(SCN1B):c.165C>T (p.Thr55=)
|
rs768325106
|
0.00001
|
|
NM_001037.5(SCN1B):c.166G>A (p.Glu56Lys)
|
rs774152936
|
0.00001
|
|
NM_001037.5(SCN1B):c.178C>T (p.Arg60Cys)
|
rs2064221873
|
0.00001
|
|
NM_001037.5(SCN1B):c.196G>T (p.Glu66Ter)
|
rs1193962006
|
0.00001
|
|
NM_001037.5(SCN1B):c.207+6C>T
|
rs771917643
|
0.00001
|
|
NM_001037.5(SCN1B):c.214C>T (p.Arg72Cys)
|
rs746782800
|
0.00001
|
|
NM_001037.5(SCN1B):c.249T>C (p.Asp83=)
|
rs1234271758
|
0.00001
|
|
NM_001037.5(SCN1B):c.255C>G (p.Arg85=)
|
rs1060501166
|
0.00001
|
|
NM_001037.5(SCN1B):c.259G>A (p.Glu87Lys)
|
rs121434627
|
0.00001
|
|
NM_001037.5(SCN1B):c.263G>A (p.Gly88Asp)
|
rs2064227954
|
0.00001
|
|
NM_001037.5(SCN1B):c.266G>A (p.Arg89His)
|
rs138381632
|
0.00001
|
|
NM_001037.5(SCN1B):c.273G>A (p.Val91=)
|
rs16969926
|
0.00001
|
|
NM_001037.5(SCN1B):c.286C>T (p.Arg96Trp)
|
rs368388359
|
0.00001
|
|
NM_001037.5(SCN1B):c.350G>A (p.Gly117Asp)
|
rs1313744180
|
0.00001
|
|
NM_001037.5(SCN1B):c.357C>T (p.Tyr119=)
|
rs1266621411
|
0.00001
|
|
NM_001037.5(SCN1B):c.373C>T (p.Arg125Cys)
|
rs1135401736
|
0.00001
|
|
NM_001037.5(SCN1B):c.374G>A (p.Arg125His)
|
rs759839781
|
0.00001
|
|
NM_001037.5(SCN1B):c.379C>T (p.Leu127Phe)
|
rs2064229215
|
0.00001
|
|
NM_001037.5(SCN1B):c.387C>T (p.Phe129=)
|
rs891588693
|
0.00001
|
|
NM_001037.5(SCN1B):c.388G>A (p.Glu130Lys)
|
rs1351632820
|
0.00001
|
|
NM_001037.5(SCN1B):c.38T>C (p.Leu13Pro)
|
rs786205834
|
0.00001
|
|
NM_001037.5(SCN1B):c.395A>G (p.Tyr132Cys)
|
rs1265232012
|
0.00001
|
|
NM_001037.5(SCN1B):c.396C>T (p.Tyr132=)
|
rs181115510
|
0.00001
|
|
NM_001037.5(SCN1B):c.3G>C (p.Met1Ile)
|
rs2064208424
|
0.00001
|
|
NM_001037.5(SCN1B):c.40+7G>T
|
rs1600361053
|
0.00001
|
|
NM_001037.5(SCN1B):c.405C>G (p.Asn135Lys)
|
rs372630267
|
0.00001
|
|
NM_001037.5(SCN1B):c.41-14T>C
|
rs778258172
|
0.00001
|
|
NM_001037.5(SCN1B):c.41-8C>T
|
rs2064220267
|
0.00001
|
|
NM_001037.5(SCN1B):c.448+103C>T
|
rs372041274
|
0.00001
|
|
NM_001037.5(SCN1B):c.448+123C>T
|
rs771174760
|
0.00001
|
|
NM_001037.5(SCN1B):c.448+124G>A
|
rs367608185
|
0.00001
|
|
NM_001037.5(SCN1B):c.448+125G>T
|
rs2064231271
|
0.00001
|
|
NM_001037.5(SCN1B):c.448+126G>T
|
rs746419159
|
0.00001
|
|
NM_001037.5(SCN1B):c.448+127C>T
|
rs770344365
|
0.00001
|
|
NM_001037.5(SCN1B):c.448+137G>A
|
rs1220622612
|
0.00001
|
|
NM_001037.5(SCN1B):c.448+151C>A
|
rs1060501167
|
0.00001
|
|
NM_001037.5(SCN1B):c.448+161C>A
|
rs1477139588
|
0.00001
|
|
NM_001037.5(SCN1B):c.448+163A>G
|
rs761312032
|
0.00001
|
|
NM_001037.5(SCN1B):c.448+192C>T
|
rs72558027
|
0.00001
|
|
NM_001037.5(SCN1B):c.448+199G>A
|
rs946927516
|
0.00001
|
|
NM_001037.5(SCN1B):c.448+205del
|
rs764848712
|
0.00001
|
|
NM_001037.5(SCN1B):c.448+215C>G
|
rs1015574605
|
0.00001
|
|
NM_001037.5(SCN1B):c.448+226G>A
|
rs757396314
|
0.00001
|
|
NM_001037.5(SCN1B):c.448+230C>T
|
rs769132369
|
0.00001
|
|
NM_001037.5(SCN1B):c.448+244A>T
|
rs1191213109
|
0.00001
|
|
NM_001037.5(SCN1B):c.448+252C>T
|
rs374235844
|
0.00001
|
|
NM_001037.5(SCN1B):c.448+270T>C
|
rs1173518227
|
0.00001
|
|
NM_001037.5(SCN1B):c.448+295G>T
|
rs786205828
|
0.00001
|
|
NM_001037.5(SCN1B):c.448+310T>C
|
rs1230072181
|
0.00001
|
|
NM_001037.5(SCN1B):c.448+346G>A
|
rs76302703
|
0.00001
|
|
NM_001037.5(SCN1B):c.448+354G>A
|
rs752552401
|
0.00001
|
|
NM_001037.5(SCN1B):c.448+45G>A
|
rs762453360
|
0.00001
|
|
NM_001037.5(SCN1B):c.448+77C>T
|
rs2064230789
|
0.00001
|
|
NM_001037.5(SCN1B):c.448+7C>T
|
rs748379474
|
0.00001
|
|
NM_001037.5(SCN1B):c.448+88G>A
|
rs267607028
|
0.00001
|
|
NM_001037.5(SCN1B):c.448+92C>A
|
rs750396627
|
0.00001
|
|
NM_001037.5(SCN1B):c.448G>A (p.Ala150Thr)
|
rs1034016541
|
0.00001
|
|
NM_001037.5(SCN1B):c.506T>C (p.Val169Ala)
|
rs1487883672
|
0.00001
|
|
NM_001037.5(SCN1B):c.523G>A (p.Val175Met)
|
rs776213428
|
0.00001
|
|
NM_001037.5(SCN1B):c.542G>A (p.Cys181Tyr)
|
rs1173931729
|
0.00001
|
|
NM_001037.5(SCN1B):c.54C>T (p.Cys18=)
|
rs1005312276
|
0.00001
|
|
NM_001037.5(SCN1B):c.560C>A (p.Ala187Asp)
|
rs749338180
|
0.00001
|
|
NM_001037.5(SCN1B):c.571A>C (p.Thr191Pro)
|
rs765702440
|
0.00001
|
|
NM_001037.5(SCN1B):c.594G>A (p.Ser198=)
|
rs112564234
|
0.00001
|
|
NM_001037.5(SCN1B):c.621C>T (p.Ser207=)
|
rs1378669075
|
0.00001
|
|
NM_001037.5(SCN1B):c.640G>A (p.Val214Ile)
|
rs77106213
|
0.00001
|
|
NM_001037.5(SCN1B):c.69G>C (p.Glu23Asp)
|
rs762553865
|
0.00001
|
|
NM_001037.5(SCN1B):c.73G>A (p.Asp25Asn)
|
rs786205837
|
0.00001
|
|
NM_001037.5(SCN1B):c.85G>A (p.Glu29Lys)
|
rs767384862
|
0.00001
|
|
NM_199037.3(SCN1B):c.751G>A (p.Val251Ile)
|
rs193922728
|
0.00001
|
|
NC_000019.10:g.(?_35030801)_(35039721_?)del
|
|
|
|
NC_000019.9:g.(?_35521725)_(36643309_?)del
|
|
|
|
NM_001037.5(SCN1B):c.*447A>G
|
rs550484951
|
|
|
NM_001037.5(SCN1B):c.*464C>G
|
rs72550264
|
|
|
NM_001037.5(SCN1B):c.*486C>T
|
rs2064280155
|
|
|
NM_001037.5(SCN1B):c.*527T>C
|
rs41275828
|
|
|
NM_001037.5(SCN1B):c.*553C>T
|
rs2064280962
|
|
|
NM_001037.5(SCN1B):c.-72G>A
|
rs1568347863
|
|
|
NM_001037.5(SCN1B):c.105C>T (p.Thr35=)
|
|
|
|
NM_001037.5(SCN1B):c.105del (p.Phe36fs)
|
|
|
|
NM_001037.5(SCN1B):c.109A>C (p.Lys37Gln)
|
|
|
|
NM_001037.5(SCN1B):c.122T>G (p.Ile41Ser)
|
rs2064221304
|
|
|
NM_001037.5(SCN1B):c.123C>T (p.Ile41=)
|
|
|
|
NM_001037.5(SCN1B):c.136C>T (p.Arg46Cys)
|
rs371646049
|
|
|
NM_001037.5(SCN1B):c.137G>A (p.Arg46His)
|
rs1024702691
|
|
|
NM_001037.5(SCN1B):c.139A>G (p.Ser47Gly)
|
|
|
|
NM_001037.5(SCN1B):c.142G>A (p.Glu48Lys)
|
|
|
|
NM_001037.5(SCN1B):c.147C>A (p.Thr49=)
|
|
|
|
NM_001037.5(SCN1B):c.147C>T (p.Thr49=)
|
|
|
|
NM_001037.5(SCN1B):c.158C>A (p.Thr53Asn)
|
rs1568348711
|
|
|
NM_001037.5(SCN1B):c.167A>G (p.Glu56Gly)
|
|
|
|
NM_001037.5(SCN1B):c.16G>C (p.Ala6Pro)
|
rs1308862852
|
|
|
NM_001037.5(SCN1B):c.173C>G (p.Thr58Ser)
|
|
|
|
NM_001037.5(SCN1B):c.173C>T (p.Thr58Ile)
|
rs2064221831
|
|
|
NM_001037.5(SCN1B):c.178dup (p.Arg60fs)
|
|
|
|
NM_001037.5(SCN1B):c.179G>A (p.Arg60His)
|
rs2064221894
|
|
|
NM_001037.5(SCN1B):c.179G>T (p.Arg60Leu)
|
|
|
|
NM_001037.5(SCN1B):c.182A>G (p.Gln61Arg)
|
rs2151746034
|
|
|
NM_001037.5(SCN1B):c.189C>G (p.Gly63=)
|
|
|
|
NM_001037.5(SCN1B):c.190A>G (p.Thr64Ala)
|
rs2151746044
|
|
|
NM_001037.5(SCN1B):c.197A>G (p.Glu66Gly)
|
|
|
|
NM_001037.5(SCN1B):c.19T>A (p.Leu7Ile)
|
|
|
|
NM_001037.5(SCN1B):c.1A>C (p.Met1Leu)
|
rs1375857363
|
|
|
NM_001037.5(SCN1B):c.201T>C (p.Phe67=)
|
|
|
|
NM_001037.5(SCN1B):c.202G>C (p.Val68Leu)
|
|
|
|
NM_001037.5(SCN1B):c.207+10T>C
|
rs1057523254
|
|
|
NM_001037.5(SCN1B):c.207+13C>G
|
rs373809858
|
|
|
NM_001037.5(SCN1B):c.207+13C>T
|
rs373809858
|
|
|
NM_001037.5(SCN1B):c.207+14G>C
|
|
|
|
NM_001037.5(SCN1B):c.207+16G>A
|
rs1159911277
|
|
|
NM_001037.5(SCN1B):c.207+19C>A
|
rs201872896
|
|
|
NM_001037.5(SCN1B):c.207+19C>T
|
rs201872896
|
|
|
NM_001037.5(SCN1B):c.207+1G>A
|
rs2064222084
|
|
|
NM_001037.5(SCN1B):c.207+20G>A
|
|
|
|
NM_001037.5(SCN1B):c.207+20G>C
|
|
|
|
NM_001037.5(SCN1B):c.207+9del
|
|
|
|
NM_001037.5(SCN1B):c.208-18C>G
|
|
|
|
NM_001037.5(SCN1B):c.208-4del
|
|
|
|
NM_001037.5(SCN1B):c.209T>C (p.Ile70Thr)
|
rs2064227259
|
|
|
NM_001037.5(SCN1B):c.212T>C (p.Leu71Pro)
|
rs2064227283
|
|
|
NM_001037.5(SCN1B):c.213G>A (p.Leu71=)
|
|
|
|
NM_001037.5(SCN1B):c.215G>T (p.Arg72Leu)
|
rs770751961
|
|
|
NM_001037.5(SCN1B):c.218A>G (p.Tyr73Cys)
|
|
|
|
NM_001037.5(SCN1B):c.219T>G (p.Tyr73Ter)
|
rs2151746369
|
|
|
NM_001037.5(SCN1B):c.224A>G (p.Asn75Ser)
|
|
|
|
NM_001037.5(SCN1B):c.22G>C (p.Val8Leu)
|
rs786205832
|
|
|
NM_001037.5(SCN1B):c.238C>T (p.Leu80=)
|
|
|
|
NM_001037.5(SCN1B):c.239T>C (p.Leu80Pro)
|
|
|
|
NM_001037.5(SCN1B):c.249T>G (p.Asp83Glu)
|
|
|
|
NM_001037.5(SCN1B):c.250G>A (p.Glu84Lys)
|
rs1555720710
|
|
|
NM_001037.5(SCN1B):c.253C>T (p.Arg85Cys)
|
rs786205830
|
|
|
NM_001037.5(SCN1B):c.256T>C (p.Phe86Leu)
|
rs1600364421
|
|
|
NM_001037.5(SCN1B):c.274T>C (p.Trp92Arg)
|
rs2151746407
|
|
|
NM_001037.5(SCN1B):c.275G>C (p.Trp92Ser)
|
|
|
|
NM_001037.5(SCN1B):c.27C>A (p.Val9=)
|
rs2151745350
|
|
|
NM_001037.5(SCN1B):c.281G>T (p.Gly94Val)
|
rs2151746413
|
|
|
NM_001037.5(SCN1B):c.284G>A (p.Ser95Asn)
|
rs1173359846
|
|
|
NM_001037.5(SCN1B):c.284G>C (p.Ser95Thr)
|
|
|
|
NM_001037.5(SCN1B):c.286C>A (p.Arg96=)
|
|
|
|
NM_001037.5(SCN1B):c.289G>A (p.Gly97Ser)
|
|
|
|
NM_001037.5(SCN1B):c.290G>A (p.Gly97Asp)
|
rs2064228310
|
|
|
NM_001037.5(SCN1B):c.290G>C (p.Gly97Ala)
|
rs2064228310
|
|
|
NM_001037.5(SCN1B):c.291C>T (p.Gly97=)
|
|
|
|
NM_001037.5(SCN1B):c.295A>T (p.Lys99Ter)
|
|
|
|
NM_001037.5(SCN1B):c.29G>A (p.Gly10Asp)
|
rs1555720384
|
|
|
NM_001037.5(SCN1B):c.2T>C (p.Met1Thr)
|
rs2151745332
|
|
|
NM_001037.5(SCN1B):c.304C>T (p.Gln102Ter)
|
rs2151746426
|
|
|
NM_001037.5(SCN1B):c.310C>A (p.Leu104Met)
|
rs1555720733
|
|
|
NM_001037.5(SCN1B):c.312_315del (p.Ile106fs)
|
|
|
|
NM_001037.5(SCN1B):c.316A>G (p.Ile106Val)
|
|
|
|
NM_001037.5(SCN1B):c.31G>A (p.Ala11Thr)
|
rs2064208679
|
|
|
NM_001037.5(SCN1B):c.329A>G (p.Asn110Ser)
|
|
|
|
NM_001037.5(SCN1B):c.330T>C (p.Asn110=)
|
|
|
|
NM_001037.5(SCN1B):c.331G>A (p.Val111Ile)
|
rs2064228638
|
|
|
NM_001037.5(SCN1B):c.335C>T (p.Thr112Ile)
|
|
|
|
NM_001037.5(SCN1B):c.338A>G (p.Tyr113Cys)
|
rs1246786495
|
|
|
NM_001037.5(SCN1B):c.339C>T (p.Tyr113=)
|
|
|
|
NM_001037.5(SCN1B):c.33G>C (p.Ala11=)
|
|
|
|
NM_001037.5(SCN1B):c.347C>T (p.Ser116Leu)
|
|
|
|
NM_001037.5(SCN1B):c.347del (p.Ser116fs)
|
rs794727487
|
|
|
NM_001037.5(SCN1B):c.349G>A (p.Gly117Ser)
|
|
|
|
NM_001037.5(SCN1B):c.352G>A (p.Asp118Asn)
|
rs761925369
|
|
|
NM_001037.5(SCN1B):c.352G>T (p.Asp118Tyr)
|
rs761925369
|
|
|
NM_001037.5(SCN1B):c.367G>T (p.Val123Phe)
|
rs754215948
|
|
|
NM_001037.5(SCN1B):c.374G>T (p.Arg125Leu)
|
rs759839781
|
|
|
NM_001037.5(SCN1B):c.389A>C (p.Glu130Ala)
|
|
|
|
NM_001037.5(SCN1B):c.396C>G (p.Tyr132Ter)
|
rs181115510
|
|
|
NM_001037.5(SCN1B):c.397G>A (p.Glu133Lys)
|
|
|
|
NM_001037.5(SCN1B):c.399G>A (p.Glu133=)
|
|
|
|
NM_001037.5(SCN1B):c.39G>C (p.Leu13=)
|
|
|
|
NM_001037.5(SCN1B):c.3G>A (p.Met1Ile)
|
|
|
|
NM_001037.5(SCN1B):c.40+11G>C
|
|
|
|
NM_001037.5(SCN1B):c.40+15G>A
|
rs72556351
|
|
|
NM_001037.5(SCN1B):c.40+17C>T
|
|
|
|
NM_001037.5(SCN1B):c.40+1_40+50del
|
rs2064208734
|
|
|
NM_001037.5(SCN1B):c.40+6T>G
|
|
|
|
NM_001037.5(SCN1B):c.40+8C>T
|
rs1600361056
|
|
|
NM_001037.5(SCN1B):c.401ACA[1] (p.Asn135del)
|
rs2064229476
|
|
|
NM_001037.5(SCN1B):c.41-11T>C
|
|
|
|
NM_001037.5(SCN1B):c.41-12del
|
rs2064220229
|
|
|
NM_001037.5(SCN1B):c.41-19G>A
|
|
|
|
NM_001037.5(SCN1B):c.41-4dup
|
|
|
|
NM_001037.5(SCN1B):c.41-5C>T
|
|
|
|
NM_001037.5(SCN1B):c.41-7C>T
|
rs2151745957
|
|
|
NM_001037.5(SCN1B):c.411C>T (p.Ser137=)
|
rs202053988
|
|
|
NM_001037.5(SCN1B):c.412GTC[1] (p.Val139del)
|
rs2064229655
|
|
|
NM_001037.5(SCN1B):c.414C>G (p.Val138=)
|
rs757116018
|
|
|
NM_001037.5(SCN1B):c.415G>T (p.Val139Phe)
|
|
|
|
NM_001037.5(SCN1B):c.419AGA[1] (p.Lys141del)
|
|
|
|
NM_001037.5(SCN1B):c.41T>C (p.Val14Ala)
|
rs2151745962
|
|
|
NM_001037.5(SCN1B):c.420G>C (p.Lys140Asn)
|
rs2151746501
|
|
|
NM_001037.5(SCN1B):c.429C>T (p.His143=)
|
rs1600364945
|
|
|
NM_001037.5(SCN1B):c.430A>G (p.Ile144Val)
|
|
|
|
NM_001037.5(SCN1B):c.431T>C (p.Ile144Thr)
|
|
|
|
NM_001037.5(SCN1B):c.444C>T (p.Asp148=)
|
rs2151746505
|
|
|
NM_001037.5(SCN1B):c.447del (p.Ala150fs)
|
|
|
|
NM_001037.5(SCN1B):c.448+105G>C
|
|
|
|
NM_001037.5(SCN1B):c.448+106C>A
|
rs2151746573
|
|
|
NM_001037.5(SCN1B):c.448+10G>C
|
rs959703607
|
|
|
NM_001037.5(SCN1B):c.448+10del
|
|
|
|
NM_001037.5(SCN1B):c.448+111C>A
|
|
|
|
NM_001037.5(SCN1B):c.448+111C>G
|
|
|
|
NM_001037.5(SCN1B):c.448+113C>G
|
|
|
|
NM_001037.5(SCN1B):c.448+115C>T
|
|
|
|
NM_001037.5(SCN1B):c.448+117C>T
|
rs2151746583
|
|
|
NM_001037.5(SCN1B):c.448+119_448+120delinsAA
|
|
|
|
NM_001037.5(SCN1B):c.448+120C>A
|
|
|
|
NM_001037.5(SCN1B):c.448+130A>G
|
|
|
|
NM_001037.5(SCN1B):c.448+131G>A
|
rs2151746593
|
|
|
NM_001037.5(SCN1B):c.448+135G>A
|
|
|
|
NM_001037.5(SCN1B):c.448+135G>T
|
|
|
|
NM_001037.5(SCN1B):c.448+135del
|
rs761070541
|
|
|
NM_001037.5(SCN1B):c.448+135dup
|
|
|
|
NM_001037.5(SCN1B):c.448+136A>C
|
|
|
|
NM_001037.5(SCN1B):c.448+152C>T
|
|
|
|
NM_001037.5(SCN1B):c.448+154G>A
|
|
|
|
NM_001037.5(SCN1B):c.448+158A>C
|
|
|
|
NM_001037.5(SCN1B):c.448+164G>A
|
rs781215295
|
|
|
NM_001037.5(SCN1B):c.448+167C>G
|
rs529053826
|
|
|
NM_001037.5(SCN1B):c.448+169G>A
|
|
|
|
NM_001037.5(SCN1B):c.448+174_448+175del
|
rs2151746627
|
|
|
NM_001037.5(SCN1B):c.448+17C>T
|
|
|
|
NM_001037.5(SCN1B):c.448+184C>A
|
|
|
|
NM_001037.5(SCN1B):c.448+187G>A
|
rs2064231986
|
|
|
NM_001037.5(SCN1B):c.448+18T>C
|
rs2064230229
|
|
|
NM_001037.5(SCN1B):c.448+191A>G
|
|
|
|
NM_001037.5(SCN1B):c.448+198G>A
|
rs2151746635
|
|
|
NM_001037.5(SCN1B):c.448+1G>A
|
|
|
|
NM_001037.5(SCN1B):c.448+201C>T
|
rs2151746638
|
|
|
NM_001037.5(SCN1B):c.448+210C>A
|
|
|
|
NM_001037.5(SCN1B):c.448+210C>T
|
|
|
|
NM_001037.5(SCN1B):c.448+211C>G
|
rs749830952
|
|
|
NM_001037.5(SCN1B):c.448+213G>C
|
rs2064232193
|
|
|
NM_001037.5(SCN1B):c.448+215C>A
|
|
|
|
NM_001037.5(SCN1B):c.448+217C>T
|
rs1085307597
|
|
|
NM_001037.5(SCN1B):c.448+219C>A
|
|
|
|
NM_001037.5(SCN1B):c.448+219C>T
|
|
|
|
NM_001037.5(SCN1B):c.448+221C>T
|
|
|
|
NM_001037.5(SCN1B):c.448+231G>A
|
rs1412614368
|
|
|
NM_001037.5(SCN1B):c.448+233G>A
|
|
|
|
NM_001037.5(SCN1B):c.448+236C>G
|
rs779470587
|
|
|
NM_001037.5(SCN1B):c.448+236C>T
|
rs779470587
|
|
|
NM_001037.5(SCN1B):c.448+238G>C
|
rs2064232510
|
|
|
NM_001037.5(SCN1B):c.448+256T>A
|
|
|
|
NM_001037.5(SCN1B):c.448+25T>C
|
|
|
|
NM_001037.5(SCN1B):c.448+262G>T
|
|
|
|
NM_001037.5(SCN1B):c.448+264A>G
|
|
|
|
NM_001037.5(SCN1B):c.448+266G>A
|
rs2151746678
|
|
|
NM_001037.5(SCN1B):c.448+277G>T
|
rs2064232777
|
|
|
NM_001037.5(SCN1B):c.448+278G>A
|
rs1057521627
|
|
|
NM_001037.5(SCN1B):c.448+280G>A
|
|
|
|
NM_001037.5(SCN1B):c.448+287G>C
|
|
|
|
NM_001037.5(SCN1B):c.448+287_448+290del
|
rs762523720
|
|
|
NM_001037.5(SCN1B):c.448+288T>C
|
|
|
|
NM_001037.5(SCN1B):c.448+295_448+296delinsAA
|
rs2064232945
|
|
|
NM_001037.5(SCN1B):c.448+301G>A
|
rs67486287
|
|
|
NM_001037.5(SCN1B):c.448+305T>C
|
|
|
|
NM_001037.5(SCN1B):c.448+308C>T
|
rs986180682
|
|
|
NM_001037.5(SCN1B):c.448+316T>C
|
rs2151746709
|
|
|
NM_001037.5(SCN1B):c.448+320C>A
|
rs570257058
|
|
|
NM_001037.5(SCN1B):c.448+321G>C
|
rs72558028
|
|
|
NM_001037.5(SCN1B):c.448+330A>G
|
rs2151746720
|
|
|
NM_001037.5(SCN1B):c.448+336T>C
|
|
|
|
NM_001037.5(SCN1B):c.448+337G>A
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rs369032304
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NM_001037.5(SCN1B):c.448+337G>T
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rs369032304
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NM_001037.5(SCN1B):c.448+342T>A
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NM_001037.5(SCN1B):c.448+346G>T
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NM_001037.5(SCN1B):c.448+348G>T
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rs2064233650
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NM_001037.5(SCN1B):c.448+36C>T
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NM_001037.5(SCN1B):c.448+39C>A
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NM_001037.5(SCN1B):c.448+39C>T
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rs373443526
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NM_001037.5(SCN1B):c.448+41G>A
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NM_001037.5(SCN1B):c.448+4_448+12del
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rs1322172446
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NM_001037.5(SCN1B):c.448+50A>T
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NM_001037.5(SCN1B):c.448+55G>C
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NM_001037.5(SCN1B):c.448+61G>T
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rs1555720788
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NM_001037.5(SCN1B):c.448+67A>G
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NM_001037.5(SCN1B):c.448+68G>T
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rs2151746554
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NM_001037.5(SCN1B):c.448+71A>G
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NM_001037.5(SCN1B):c.448+77C>A
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rs2064230789
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NM_001037.5(SCN1B):c.448+7C>G
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rs748379474
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NM_001037.5(SCN1B):c.448+82C>T
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NM_001037.5(SCN1B):c.448+85G>T
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rs2064230859
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NM_001037.5(SCN1B):c.448+8G>A
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rs200222933
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NM_001037.5(SCN1B):c.448+8G>T
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NM_001037.5(SCN1B):c.448+90C>T
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rs781079912
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NM_001037.5(SCN1B):c.448+92C>G
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rs750396627
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NM_001037.5(SCN1B):c.448+97C>T
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NM_001037.5(SCN1B):c.448G>T (p.Ala150Ser)
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rs1034016541
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NM_001037.5(SCN1B):c.449-10G>A
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rs1049927697
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NM_001037.5(SCN1B):c.449-14C>T
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rs1355096099
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NM_001037.5(SCN1B):c.449-17C>T
|
rs1279969842
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NM_001037.5(SCN1B):c.449-1G>T
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NM_001037.5(SCN1B):c.449-2A>G
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rs1600370558
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NM_001037.5(SCN1B):c.449-3C>T
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rs370937269
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NM_001037.5(SCN1B):c.449-5T>C
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NM_001037.5(SCN1B):c.449-9C>A
|
rs786205829
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NM_001037.5(SCN1B):c.449C>T (p.Ala150Val)
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rs1131691415
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NM_001037.5(SCN1B):c.455G>A (p.Arg152Lys)
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rs760072940
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NM_001037.5(SCN1B):c.461T>C (p.Met154Thr)
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rs1432198305
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NM_001037.5(SCN1B):c.471C>A (p.Ile157=)
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NM_001037.5(SCN1B):c.471C>G (p.Ile157Met)
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rs765269835
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NM_001037.5(SCN1B):c.472G>A (p.Val158Met)
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rs138450474
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NM_001037.5(SCN1B):c.487A>G (p.Met163Val)
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rs767608329
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NM_001037.5(SCN1B):c.489G>A (p.Met163Ile)
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rs2151748748
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NM_001037.5(SCN1B):c.492T>C (p.Tyr164=)
|
rs535042320
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NM_001037.5(SCN1B):c.504G>A (p.Val168=)
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NM_001037.5(SCN1B):c.508T>C (p.Leu170=)
|
rs748491132
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NM_001037.5(SCN1B):c.508T>G (p.Leu170Val)
|
rs748491132
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NM_001037.5(SCN1B):c.50C>T (p.Ala17Val)
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NM_001037.5(SCN1B):c.517T>C (p.Trp173Arg)
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NM_001037.5(SCN1B):c.518G>A (p.Trp173Ter)
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NM_001037.5(SCN1B):c.520C>T (p.Leu174Phe)
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NM_001037.5(SCN1B):c.522C>A (p.Leu174=)
|
rs35478147
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NM_001037.5(SCN1B):c.522C>T (p.Leu174=)
|
rs35478147
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NM_001037.5(SCN1B):c.527C>T (p.Ala176Val)
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NM_001037.5(SCN1B):c.548AGA[1] (p.Lys184del)
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NM_001037.5(SCN1B):c.549G>A (p.Lys183=)
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NM_001037.5(SCN1B):c.555C>T (p.Ile185=)
|
rs1291900478
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NM_001037.5(SCN1B):c.561C>G (p.Ala187=)
|
rs587781152
|
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NM_001037.5(SCN1B):c.562G>A (p.Ala188Thr)
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NM_001037.5(SCN1B):c.564C>T (p.Ala188=)
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NM_001037.5(SCN1B):c.584A>C (p.Glu195Ala)
|
rs2151748815
|
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NM_001037.5(SCN1B):c.58G>A (p.Gly20Ser)
|
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NM_001037.5(SCN1B):c.590+1G>A
|
rs112767703
|
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NM_001037.5(SCN1B):c.590+3G>T
|
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NM_001037.5(SCN1B):c.590C>A (p.Ala197Asp)
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NM_001037.5(SCN1B):c.591-12_606del
|
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NM_001037.5(SCN1B):c.591-16G>C
|
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NM_001037.5(SCN1B):c.591-2A>G
|
rs2151749034
|
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NM_001037.5(SCN1B):c.591-3C>T
|
rs2151749033
|
|
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NM_001037.5(SCN1B):c.591-5del
|
rs1218360584
|
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NM_001037.5(SCN1B):c.591-5dup
|
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NM_001037.5(SCN1B):c.591-8C>T
|
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NM_001037.5(SCN1B):c.59dup (p.Cys21fs)
|
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NM_001037.5(SCN1B):c.5G>T (p.Gly2Val)
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NM_001037.5(SCN1B):c.611C>A (p.Thr204Asn)
|
rs2151749048
|
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NM_001037.5(SCN1B):c.615dup (p.Glu206Ter)
|
rs1555721523
|
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NM_001037.5(SCN1B):c.622A>C (p.Lys208Gln)
|
rs2151749056
|
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NM_001037.5(SCN1B):c.627G>A (p.Glu209=)
|
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NM_001037.5(SCN1B):c.631dup (p.Cys211fs)
|
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NM_001037.5(SCN1B):c.634A>C (p.Thr212Pro)
|
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NM_001037.5(SCN1B):c.635C>T (p.Thr212Met)
|
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NM_001037.5(SCN1B):c.651C>T (p.Ala217=)
|
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NM_001037.5(SCN1B):c.652G>A (p.Glu218Lys)
|
rs1555721538
|
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NM_001037.5(SCN1B):c.655T>C (p.Ter219Gln)
|
rs2151749083
|
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NM_001037.5(SCN1B):c.69G>A (p.Glu23=)
|
rs762553865
|
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NM_001037.5(SCN1B):c.71T>A (p.Val24Glu)
|
|
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NM_001037.5(SCN1B):c.72G>A (p.Val24=)
|
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NM_001037.5(SCN1B):c.77C>T (p.Ser26Leu)
|
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|
|
NM_001037.5(SCN1B):c.78G>A (p.Ser26=)
|
rs774401364
|
|
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NM_001037.5(SCN1B):c.8G>T (p.Arg3Met)
|
rs2151745336
|
|
|
NM_001037.5(SCN1B):c.90C>A (p.Ala30=)
|
rs753994622
|
|
|
NM_001037.5(SCN1B):c.91G>A (p.Val31Met)
|
|
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NM_001037.5(SCN1B):c.94_95insC (p.Tyr32fs)
|
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NM_001037.5(SCN1B):c.97G>A (p.Gly33Arg)
|
rs2064221039
|
|
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NM_001037.5(SCN1B):c.98G>T (p.Gly33Val)
|
rs2151745999
|
|
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NM_001037.5(SCN1B):c.99G>T (p.Gly33=)
|
|
|
|
NM_199037.3(SCN1B):c.749G>C (p.Arg250Thr)
|
rs67486287
|
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