NM_001037.5(SCN1B):c.41-313T>A
|
rs8100085
|
0.41634
|
NM_001037.5(SCN1B):c.448+610T>C
|
rs67777826
|
0.28960
|
NM_001037.5(SCN1B):c.448+679A>C
|
rs61377791
|
0.28334
|
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.208-94T>G
|
rs58899423
|
0.08727
|
NM_001037.5(SCN1B):c.208-121T>A
|
rs58803373
|
0.08726
|
NM_001037.5(SCN1B):c.*6-11C>G
|
rs28365105
|
0.05977
|
NM_001037.5(SCN1B):c.449-229C>T
|
rs7256501
|
0.03134
|
NM_001037.5(SCN1B):c.41-239T>G
|
rs73929262
|
0.02601
|
NM_001037.5(SCN1B):c.208-136del
|
rs72550271
|
0.02367
|
NM_001037.5(SCN1B):c.591-150A>G
|
rs61457558
|
0.02240
|
NM_001037.5(SCN1B):c.208-320T>C
|
rs56158208
|
0.02189
|
NM_001037.5(SCN1B):c.449-25C>T
|
rs72550246
|
0.01950
|
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.207+263G>A
|
rs138469772
|
0.00672
|
NM_001037.5(SCN1B):c.208-284C>T
|
rs183517721
|
0.00665
|
NM_001037.5(SCN1B):c.448+559C>T
|
rs192082982
|
0.00650
|
NM_001037.5(SCN1B):c.-9C>A
|
rs66671189
|
0.00603
|
NM_001037.5(SCN1B):c.300C>T (p.Asp100=)
|
rs16969927
|
0.00539
|
NM_001037.5(SCN1B):c.208-159G>A
|
rs143996359
|
0.00517
|
NM_001037.5(SCN1B):c.*401G>A
|
rs72550268
|
0.00514
|
NM_001037.5(SCN1B):c.*5+31G>A
|
rs28365108
|
0.00361
|
NM_001037.5(SCN1B):c.207+55G>A
|
rs147990128
|
0.00262
|
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.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.207+34A>C
|
rs369688072
|
0.00059
|
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.448+320C>T
|
rs570257058
|
0.00033
|
NM_001037.5(SCN1B):c.448+444G>A
|
rs375266320
|
0.00023
|
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.-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.457G>A (p.Asp153Asn)
|
rs72550247
|
0.00009
|
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+140G>A
|
rs775648401
|
0.00005
|
NM_001037.5(SCN1B):c.561C>T (p.Ala187=)
|
rs587781152
|
0.00005
|
NM_001037.5(SCN1B):c.121A>G (p.Ile41Val)
|
rs72552028
|
0.00004
|
NM_001037.5(SCN1B):c.222G>A (p.Glu74=)
|
rs775682394
|
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.134G>A (p.Arg45His)
|
rs180943300
|
0.00003
|
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp)
|
rs104894718
|
0.00003
|
NM_001037.5(SCN1B):c.414C>T (p.Val138=)
|
rs757116018
|
0.00003
|
NM_001037.5(SCN1B):c.448+311G>A
|
rs1019053238
|
0.00003
|
NM_001037.5(SCN1B):c.627G>C (p.Glu209Asp)
|
rs745580499
|
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.254G>A (p.Arg85His)
|
rs16969925
|
0.00002
|
NM_001037.5(SCN1B):c.287G>A (p.Arg96Gln)
|
rs372289648
|
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+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.590C>T (p.Ala197Val)
|
rs554201948
|
0.00002
|
NM_001037.5(SCN1B):c.638G>A (p.Gly213Asp)
|
rs201209882
|
0.00002
|
NM_001037.5(SCN1B):c.133C>T (p.Arg45Cys)
|
rs757554677
|
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.178C>T (p.Arg60Cys)
|
rs2064221873
|
0.00001
|
NM_001037.5(SCN1B):c.196G>T (p.Glu66Ter)
|
rs1193962006
|
0.00001
|
NM_001037.5(SCN1B):c.214C>T (p.Arg72Cys)
|
rs746782800
|
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.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.38T>C (p.Leu13Pro)
|
rs786205834
|
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+9G>A
|
rs1455017466
|
0.00001
|
NM_001037.5(SCN1B):c.405C>G (p.Asn135Lys)
|
rs372630267
|
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+126G>T
|
rs746419159
|
0.00001
|
NM_001037.5(SCN1B):c.448+127C>T
|
rs770344365
|
0.00001
|
NM_001037.5(SCN1B):c.448+161C>A
|
rs1477139588
|
0.00001
|
NM_001037.5(SCN1B):c.448+192C>T
|
rs72558027
|
0.00001
|
NM_001037.5(SCN1B):c.448+205del
|
rs764848712
|
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+7C>T
|
rs748379474
|
0.00001
|
NM_001037.5(SCN1B):c.448+88G>A
|
rs267607028
|
0.00001
|
NM_001037.5(SCN1B):c.502G>C (p.Val168Leu)
|
rs1436161923
|
0.00001
|
NM_001037.5(SCN1B):c.560C>A (p.Ala187Asp)
|
rs749338180
|
0.00001
|
NM_001037.5(SCN1B):c.570G>T (p.Glu190Asp)
|
rs1422403439
|
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.73G>A (p.Asp25Asn)
|
rs786205837
|
0.00001
|
NM_199037.3(SCN1B):c.751G>A (p.Val251Ile)
|
rs193922728
|
0.00001
|
NC_000019.10:g.35030440CGC[10]
|
rs557140301
|
|
NM_001037.5(SCN1B):c.*527T>C
|
rs41275828
|
|
NM_001037.5(SCN1B):c.*57del
|
rs2151749193
|
|
NM_001037.5(SCN1B):c.*58_*59del
|
|
|
NM_001037.5(SCN1B):c.108del (p.Phe36fs)
|
rs1064794589
|
|
NM_001037.5(SCN1B):c.136C>T (p.Arg46Cys)
|
rs371646049
|
|
NM_001037.5(SCN1B):c.168G>C (p.Glu56Asp)
|
rs886043547
|
|
NM_001037.5(SCN1B):c.179G>A (p.Arg60His)
|
rs2064221894
|
|
NM_001037.5(SCN1B):c.17C>T (p.Ala6Val)
|
|
|
NM_001037.5(SCN1B):c.1A>C (p.Met1Leu)
|
rs1375857363
|
|
NM_001037.5(SCN1B):c.207+19C>T
|
rs201872896
|
|
NM_001037.5(SCN1B):c.208-189G>A
|
rs56276191
|
|
NM_001037.5(SCN1B):c.208-1G>C
|
rs773044638
|
|
NM_001037.5(SCN1B):c.20T>G (p.Leu7Ter)
|
rs2151745345
|
|
NM_001037.5(SCN1B):c.214C>G (p.Arg72Gly)
|
rs746782800
|
|
NM_001037.5(SCN1B):c.215G>A (p.Arg72His)
|
rs770751961
|
|
NM_001037.5(SCN1B):c.218A>G (p.Tyr73Cys)
|
|
|
NM_001037.5(SCN1B):c.22G>C (p.Val8Leu)
|
rs786205832
|
|
NM_001037.5(SCN1B):c.240GGA[2] (p.Glu82del)
|
rs2151746376
|
|
NM_001037.5(SCN1B):c.248A>T (p.Asp83Val)
|
rs1057524601
|
|
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.259G>C (p.Glu87Gln)
|
rs121434627
|
|
NM_001037.5(SCN1B):c.295A>T (p.Lys99Ter)
|
|
|
NM_001037.5(SCN1B):c.2T>C (p.Met1Thr)
|
rs2151745332
|
|
NM_001037.5(SCN1B):c.316A>G (p.Ile106Val)
|
|
|
NM_001037.5(SCN1B):c.343C>T (p.His115Tyr)
|
|
|
NM_001037.5(SCN1B):c.347C>T (p.Ser116Leu)
|
|
|
NM_001037.5(SCN1B):c.347del (p.Ser116fs)
|
rs794727487
|
|
NM_001037.5(SCN1B):c.352G>T (p.Asp118Tyr)
|
rs761925369
|
|
NM_001037.5(SCN1B):c.360G>A (p.Glu120=)
|
rs2151746458
|
|
NM_001037.5(SCN1B):c.374G>T (p.Arg125Leu)
|
rs759839781
|
|
NM_001037.5(SCN1B):c.396C>G (p.Tyr132Ter)
|
rs181115510
|
|
NM_001037.5(SCN1B):c.40+15G>A
|
rs72556351
|
|
NM_001037.5(SCN1B):c.41-1G>T
|
rs2151745961
|
|
NM_001037.5(SCN1B):c.41-3C>T
|
rs1064796801
|
|
NM_001037.5(SCN1B):c.41T>C (p.Val14Ala)
|
rs2151745962
|
|
NM_001037.5(SCN1B):c.429C>T (p.His143=)
|
rs1600364945
|
|
NM_001037.5(SCN1B):c.448+10G>C
|
rs959703607
|
|
NM_001037.5(SCN1B):c.448+135del
|
rs761070541
|
|
NM_001037.5(SCN1B):c.448+167C>G
|
rs529053826
|
|
NM_001037.5(SCN1B):c.448+201C>T
|
rs2151746638
|
|
NM_001037.5(SCN1B):c.448+217C>T
|
rs1085307597
|
|
NM_001037.5(SCN1B):c.448+2215G>A
|
|
|
NM_001037.5(SCN1B):c.448+2233G>A
|
|
|
NM_001037.5(SCN1B):c.448+231G>A
|
rs1412614368
|
|
NM_001037.5(SCN1B):c.448+236C>G
|
rs779470587
|
|
NM_001037.5(SCN1B):c.448+278G>A
|
rs1057521627
|
|
NM_001037.5(SCN1B):c.448+287_448+290del
|
rs762523720
|
|
NM_001037.5(SCN1B):c.448+337G>A
|
rs369032304
|
|
NM_001037.5(SCN1B):c.448+39C>T
|
rs373443526
|
|
NM_001037.5(SCN1B):c.448+4_448+12del
|
rs1322172446
|
|
NM_001037.5(SCN1B):c.448+8G>A
|
rs200222933
|
|
NM_001037.5(SCN1B):c.449-10G>A
|
rs1049927697
|
|
NM_001037.5(SCN1B):c.449-1G>A
|
rs786205835
|
|
NM_001037.5(SCN1B):c.449C>T (p.Ala150Val)
|
rs1131691415
|
|
NM_001037.5(SCN1B):c.461T>C (p.Met154Thr)
|
rs1432198305
|
|
NM_001037.5(SCN1B):c.465A>G (p.Ala155=)
|
rs1196314335
|
|
NM_001037.5(SCN1B):c.472G>A (p.Val158Met)
|
rs138450474
|
|
NM_001037.5(SCN1B):c.477delinsATGATGGATG (p.Ser159_Glu160insTer)
|
rs1131691338
|
|
NM_001037.5(SCN1B):c.487A>T (p.Met163Leu)
|
rs767608329
|
|
NM_001037.5(SCN1B):c.508T>C (p.Leu170=)
|
rs748491132
|
|
NM_001037.5(SCN1B):c.508T>G (p.Leu170Val)
|
rs748491132
|
|
NM_001037.5(SCN1B):c.522C>A (p.Leu174=)
|
rs35478147
|
|
NM_001037.5(SCN1B):c.522C>T (p.Leu174=)
|
rs35478147
|
|
NM_001037.5(SCN1B):c.584A>C (p.Glu195Ala)
|
rs2151748815
|
|
NM_001037.5(SCN1B):c.58G>A (p.Gly20Ser)
|
|
|
NM_001037.5(SCN1B):c.590+1G>A
|
rs112767703
|
|
NM_001037.5(SCN1B):c.590+97C>T
|
rs72550245
|
|
NM_001037.5(SCN1B):c.590C>A (p.Ala197Asp)
|
|
|
NM_001037.5(SCN1B):c.591-22A>T
|
rs200116490
|
|
NM_001037.5(SCN1B):c.615dup (p.Glu206Ter)
|
rs1555721523
|
|
NM_001037.5(SCN1B):c.630C>A (p.Asn210Lys)
|
rs786205836
|
|
NM_001037.5(SCN1B):c.635C>T (p.Thr212Met)
|
|
|
NM_001037.5(SCN1B):c.644del (p.Gln215fs)
|
rs1555721533
|
|
NM_001037.5(SCN1B):c.85G>C (p.Glu29Gln)
|
rs767384862
|
|
NM_001037.5(SCN1B):c.8G>T (p.Arg3Met)
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rs2151745336
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