NM_001165963.4(SCN1A):c.2947-41C>T
|
rs7601520
|
0.73875
|
NM_001165963.4(SCN1A):c.1212A>G (p.Val404=)
|
rs7580482
|
0.66162
|
NM_001165963.4(SCN1A):c.3723T>C (p.Tyr1241=)
|
rs36031496
|
0.03789
|
NM_001330723.2(SNX27):c.1155C>T (p.Val385=)
|
rs115166911
|
0.00687
|
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser)
|
rs141268327
|
0.00496
|
NM_001330723.2(SNX27):c.984T>C (p.Phe328=)
|
rs150091333
|
0.00443
|
NM_001330723.2(SNX27):c.801+18T>A
|
rs115780664
|
0.00365
|
NM_001330723.2(SNX27):c.967G>A (p.Val323Met)
|
rs61762678
|
0.00311
|
NM_001330723.2(SNX27):c.18G>A (p.Gly6=)
|
rs551180149
|
0.00236
|
NM_001330723.2(SNX27):c.1156G>C (p.Asp386His)
|
rs138859961
|
0.00188
|
NM_001165963.4(SCN1A):c.3705+12T>G
|
rs147032678
|
0.00181
|
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser)
|
rs121918799
|
0.00159
|
NM_001165963.4(SCN1A):c.1625G>A (p.Arg542Gln)
|
rs121918817
|
0.00154
|
NM_001165963.4(SCN1A):c.1811G>A (p.Arg604His)
|
rs121918769
|
0.00087
|
NM_001330723.2(SNX27):c.986-20G>C
|
rs199670160
|
0.00083
|
NM_001365536.1(SCN9A):c.684C>G (p.Ile228Met)
|
rs71428908
|
0.00081
|
NM_001165963.4(SCN1A):c.5951C>A (p.Pro1984His)
|
rs146733308
|
0.00074
|
NM_001165963.4(SCN1A):c.5782C>G (p.Arg1928Gly)
|
rs121917956
|
0.00073
|
NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp)
|
rs121917910
|
0.00070
|
NM_001365536.1(SCN9A):c.1277T>A (p.Met426Lys)
|
rs200415928
|
0.00046
|
NM_001165963.4(SCN1A):c.3749C>T (p.Thr1250Met)
|
rs140731963
|
0.00025
|
NM_001330723.2(SNX27):c.1427G>T (p.Arg476Leu)
|
rs200106732
|
0.00022
|
NM_001165963.4(SCN1A):c.3899C>T (p.Thr1300Ile)
|
rs146878122
|
0.00019
|
NM_001330723.2(SNX27):c.1389+17G>A
|
rs185748265
|
0.00017
|
NM_001165963.4(SCN1A):c.5870A>G (p.Glu1957Gly)
|
rs121918802
|
0.00016
|
NM_001165963.4(SCN1A):c.5217C>T (p.Pro1739=)
|
rs149315236
|
0.00014
|
NM_001330723.2(SNX27):c.1438G>C (p.Asp480His)
|
rs145045028
|
0.00013
|
NM_001365536.1(SCN9A):c.4820C>T (p.Thr1607Ile)
|
rs200470541
|
0.00012
|
NM_001165963.4(SCN1A):c.1739G>A (p.Arg580Gln)
|
rs544692790
|
0.00011
|
NM_001165963.4(SCN1A):c.379C>G (p.His127Asp)
|
rs148442069
|
0.00011
|
NM_001330723.2(SNX27):c.1017C>T (p.His339=)
|
rs376664632
|
0.00011
|
NM_001330723.2(SNX27):c.1347G>A (p.Thr449=)
|
rs781281484
|
0.00011
|
NM_001365536.1(SCN9A):c.2875-5del
|
rs774840081
|
0.00011
|
NM_001330723.2(SNX27):c.1329C>T (p.Ile443=)
|
rs193058770
|
0.00010
|
NM_001165963.4(SCN1A):c.3714A>C (p.Glu1238Asp)
|
rs121917973
|
0.00008
|
NM_001330723.2(SNX27):c.1365C>T (p.Ala455=)
|
rs555284794
|
0.00008
|
NM_001330723.2(SNX27):c.1519-8T>C
|
rs375601770
|
0.00008
|
NM_001330723.2(SNX27):c.672A>G (p.Pro224=)
|
rs777882451
|
0.00008
|
NM_001330723.2(SNX27):c.1124T>G (p.Leu375Arg)
|
rs749329909
|
0.00007
|
NM_001330723.2(SNX27):c.1150-4A>C
|
rs746469264
|
0.00007
|
NM_001330723.2(SNX27):c.1274A>G (p.Asn425Ser)
|
rs768030688
|
0.00007
|
NM_001330723.2(SNX27):c.422A>T (p.Asp141Val)
|
rs1300183081
|
0.00007
|
NM_001330723.2(SNX27):c.938C>T (p.Thr313Met)
|
rs140922236
|
0.00007
|
NM_001365536.1(SCN9A):c.3538A>G (p.Asn1180Asp)
|
rs750269576
|
0.00007
|
NM_001165963.4(SCN1A):c.1803C>T (p.Asn601=)
|
rs139403702
|
0.00006
|
NM_001165963.4(SCN1A):c.3481G>A (p.Ala1161Thr)
|
rs201079458
|
0.00006
|
NM_001330723.2(SNX27):c.676T>A (p.Ser226Thr)
|
rs748735835
|
0.00006
|
NM_001330723.2(SNX27):c.812G>A (p.Gly271Asp)
|
rs748570559
|
0.00006
|
NM_001330723.2(SNX27):c.822C>T (p.Asp274=)
|
rs771189015
|
0.00006
|
NM_001330723.2(SNX27):c.914C>T (p.Ala305Val)
|
rs151014791
|
0.00006
|
NM_001365536.1(SCN9A):c.1280T>C (p.Leu427Ser)
|
rs192406412
|
0.00006
|
NM_001365536.1(SCN9A):c.2006G>A (p.Arg669His)
|
rs200374987
|
0.00006
|
NM_001165963.4(SCN1A):c.1343T>C (p.Ile448Thr)
|
rs755962326
|
0.00005
|
NM_001165963.4(SCN1A):c.1457C>G (p.Ala486Gly)
|
rs777120925
|
0.00005
|
NM_001330723.2(SNX27):c.138C>T (p.Ile46=)
|
rs776920317
|
0.00005
|
NM_001330723.2(SNX27):c.1464C>T (p.Phe488=)
|
rs767464354
|
0.00005
|
NM_001330723.2(SNX27):c.396G>C (p.Val132=)
|
rs756186623
|
0.00005
|
NM_001330723.2(SNX27):c.772A>G (p.Met258Val)
|
rs146222009
|
0.00005
|
NM_001165963.4(SCN1A):c.1604G>A (p.Arg535His)
|
rs184524479
|
0.00004
|
NM_001165963.4(SCN1A):c.4556C>T (p.Pro1519Leu)
|
rs372425457
|
0.00004
|
NM_001165963.4(SCN1A):c.4612G>A (p.Val1538Ile)
|
rs780360360
|
0.00004
|
NM_001330723.2(SNX27):c.110G>A (p.Gly37Glu)
|
rs780332122
|
0.00004
|
NM_001330723.2(SNX27):c.1149+10T>C
|
rs368706118
|
0.00004
|
NM_001330723.2(SNX27):c.1346C>T (p.Thr449Met)
|
rs754928412
|
0.00004
|
NM_001330723.2(SNX27):c.1542C>T (p.Phe514=)
|
rs761223156
|
0.00004
|
NM_001330723.2(SNX27):c.1571G>A (p.Arg524Lys)
|
rs751866300
|
0.00004
|
NM_001330723.2(SNX27):c.1578+2_1578+3dup
|
rs779581923
|
0.00004
|
NM_001330723.2(SNX27):c.801+19T>C
|
rs552244633
|
0.00004
|
NM_001330723.2(SNX27):c.823G>A (p.Val275Ile)
|
rs145927992
|
0.00004
|
NM_001330723.2(SNX27):c.907-15C>T
|
rs766328880
|
0.00004
|
NM_001330723.2(SNX27):c.912C>T (p.Ile304=)
|
rs529966476
|
0.00004
|
NM_001365536.1(SCN9A):c.184A>G (p.Ile62Val)
|
rs121908920
|
0.00004
|
NM_001365536.1(SCN9A):c.2351C>G (p.Thr784Ser)
|
rs200624920
|
0.00004
|
NM_001165963.4(SCN1A):c.136G>A (p.Glu46Lys)
|
rs769582667
|
0.00003
|
NM_001165963.4(SCN1A):c.2201G>A (p.Cys734Tyr)
|
rs1247949520
|
0.00003
|
NM_001165963.4(SCN1A):c.4547C>T (p.Ser1516Leu)
|
rs139300715
|
0.00003
|
NM_001165963.4(SCN1A):c.4723C>T (p.Arg1575Cys)
|
rs121918807
|
0.00003
|
NM_001165963.4(SCN1A):c.4834G>A (p.Val1612Ile)
|
rs121918808
|
0.00003
|
NM_001165963.4(SCN1A):c.5988A>C (p.Lys1996Asn)
|
rs371243629
|
0.00003
|
NM_001165963.4(SCN1A):c.890C>T (p.Thr297Ile)
|
rs121918771
|
0.00003
|
NM_001330723.2(SNX27):c.1118A>G (p.Asn373Ser)
|
rs149636067
|
0.00003
|
NM_001330723.2(SNX27):c.1154T>C (p.Val385Ala)
|
rs534450090
|
0.00003
|
NM_001330723.2(SNX27):c.1240-3T>A
|
rs1558078080
|
0.00003
|
NM_001330723.2(SNX27):c.1324G>A (p.Val442Ile)
|
rs149937418
|
0.00003
|
NM_001330723.2(SNX27):c.1475G>A (p.Arg492Gln)
|
rs1397864351
|
0.00003
|
NM_001330723.2(SNX27):c.231G>A (p.Pro77=)
|
rs760263726
|
0.00003
|
NM_001330723.2(SNX27):c.240T>C (p.His80=)
|
rs533724049
|
0.00003
|
NM_001330723.2(SNX27):c.41C>T (p.Pro14Leu)
|
rs965328686
|
0.00003
|
NM_001330723.2(SNX27):c.447G>A (p.Ser149=)
|
rs764587770
|
0.00003
|
NM_001330723.2(SNX27):c.621G>A (p.Leu207=)
|
rs754801297
|
0.00003
|
NM_001330723.2(SNX27):c.898G>A (p.Val300Ile)
|
rs749870596
|
0.00003
|
NM_001365536.1(SCN9A):c.1604C>T (p.Ser535Leu)
|
rs201354321
|
0.00003
|
NM_001365536.1(SCN9A):c.4503+8_4503+9insT
|
rs767624579
|
0.00003
|
NM_001165963.4(SCN1A):c.2552A>G (p.Asn851Ser)
|
rs561912072
|
0.00002
|
NM_001165963.4(SCN1A):c.3889G>A (p.Val1297Ile)
|
rs1260685558
|
0.00002
|
NM_001165963.4(SCN1A):c.5851G>T (p.Ala1951Ser)
|
rs376656165
|
0.00002
|
NM_001165963.4(SCN1A):c.886A>G (p.Ile296Val)
|
rs373772491
|
0.00002
|
NM_001330723.2(SNX27):c.1025A>G (p.Tyr342Cys)
|
rs954363272
|
0.00002
|
NM_001330723.2(SNX27):c.1147C>G (p.Gln383Glu)
|
rs758891209
|
0.00002
|
NM_001330723.2(SNX27):c.1240-6T>C
|
rs1033947503
|
0.00002
|
NM_001330723.2(SNX27):c.1247A>G (p.Asn416Ser)
|
rs372894841
|
0.00002
|
NM_001330723.2(SNX27):c.1256G>A (p.Arg419Lys)
|
rs1314203228
|
0.00002
|
NM_001330723.2(SNX27):c.1523A>G (p.Asn508Ser)
|
rs753870444
|
0.00002
|
NM_001330723.2(SNX27):c.1578+118G>A
|
rs143574605
|
0.00002
|
NM_001330723.2(SNX27):c.234G>A (p.Leu78=)
|
rs763585979
|
0.00002
|
NM_001330723.2(SNX27):c.260G>C (p.Gly87Ala)
|
rs1384033530
|
0.00002
|
NM_001330723.2(SNX27):c.471C>T (p.Tyr157=)
|
rs80102518
|
0.00002
|
NM_001330723.2(SNX27):c.69C>T (p.Gly23=)
|
rs752312603
|
0.00002
|
NM_001330723.2(SNX27):c.795C>A (p.Ser265=)
|
rs772609394
|
0.00002
|
NM_001330723.2(SNX27):c.802-15T>C
|
rs1384108881
|
0.00002
|
NM_001330723.2(SNX27):c.802-4C>T
|
rs373727297
|
0.00002
|
NM_001330723.2(SNX27):c.913G>A (p.Ala305Thr)
|
rs778236794
|
0.00002
|
NM_001365536.1(SCN9A):c.*2744del
|
rs763459885
|
0.00002
|
NM_001365536.1(SCN9A):c.1238T>C (p.Ile413Thr)
|
rs200689195
|
0.00002
|
NM_001365536.1(SCN9A):c.553C>T (p.Arg185Cys)
|
rs202083986
|
0.00002
|
NM_001037.5(SCN1B):c.166G>A (p.Glu56Lys)
|
rs774152936
|
0.00001
|
NM_001165963.4(SCN1A):c.1193C>T (p.Thr398Met)
|
rs774937055
|
0.00001
|
NM_001165963.4(SCN1A):c.187T>C (p.Phe63Leu)
|
rs121917907
|
0.00001
|
NM_001165963.4(SCN1A):c.2477A>G (p.Tyr826Cys)
|
rs1422284356
|
0.00001
|
NM_001165963.4(SCN1A):c.2522C>T (p.Thr841Met)
|
rs750901301
|
0.00001
|
NM_001165963.4(SCN1A):c.2686G>A (p.Val896Ile)
|
rs745378416
|
0.00001
|
NM_001165963.4(SCN1A):c.3098T>C (p.Phe1033Ser)
|
rs796052992
|
0.00001
|
NM_001165963.4(SCN1A):c.3478G>A (p.Gly1160Ser)
|
rs776752552
|
0.00001
|
NM_001165963.4(SCN1A):c.3734G>A (p.Arg1245Gln)
|
rs121917912
|
0.00001
|
NM_001165963.4(SCN1A):c.3925C>T (p.Leu1309Phe)
|
rs121918801
|
0.00001
|
NM_001165963.4(SCN1A):c.4628T>C (p.Phe1543Ser)
|
rs121917992
|
0.00001
|
NM_001165963.4(SCN1A):c.4855A>G (p.Met1619Val)
|
rs373967247
|
0.00001
|
NM_001165963.4(SCN1A):c.5092G>A (p.Glu1698Lys)
|
rs548487014
|
0.00001
|
NM_001165963.4(SCN1A):c.5783G>A (p.Arg1928His)
|
rs1477444505
|
0.00001
|
NM_001165963.4(SCN1A):c.5813C>T (p.Ala1938Val)
|
rs915676341
|
0.00001
|
NM_001165963.4(SCN1A):c.5912A>G (p.Glu1971Gly)
|
rs771936735
|
0.00001
|
NM_001165963.4(SCN1A):c.661C>G (p.Leu221Val)
|
rs886039456
|
0.00001
|
NM_001165963.4(SCN1A):c.82C>T (p.Arg28Cys)
|
rs754032480
|
0.00001
|
NM_001330723.2(SNX27):c.1024T>G (p.Tyr342Asp)
|
rs1177213865
|
0.00001
|
NM_001330723.2(SNX27):c.1046C>A (p.Ala349Asp)
|
rs771457853
|
0.00001
|
NM_001330723.2(SNX27):c.105C>T (p.Gly35=)
|
rs746433915
|
0.00001
|
NM_001330723.2(SNX27):c.1150-3T>C
|
rs776392332
|
0.00001
|
NM_001330723.2(SNX27):c.1181A>C (p.Lys394Thr)
|
rs1558073082
|
0.00001
|
NM_001330723.2(SNX27):c.1218C>T (p.Tyr406=)
|
rs201966711
|
0.00001
|
NM_001330723.2(SNX27):c.1235T>A (p.Val412Asp)
|
rs778000318
|
0.00001
|
NM_001330723.2(SNX27):c.1258A>T (p.Thr420Ser)
|
rs1399483139
|
0.00001
|
NM_001330723.2(SNX27):c.1283T>A (p.Ile428Asn)
|
rs374866696
|
0.00001
|
NM_001330723.2(SNX27):c.1323C>T (p.His441=)
|
rs758182367
|
0.00001
|
NM_001330723.2(SNX27):c.1348C>T (p.His450Tyr)
|
rs747607305
|
0.00001
|
NM_001330723.2(SNX27):c.1390-4C>T
|
rs1310809977
|
0.00001
|
NM_001330723.2(SNX27):c.1426C>T (p.Arg476Ter)
|
rs1346732190
|
0.00001
|
NM_001330723.2(SNX27):c.1447G>A (p.Gly483Arg)
|
rs543145513
|
0.00001
|
NM_001330723.2(SNX27):c.1465G>A (p.Glu489Lys)
|
rs1400115897
|
0.00001
|
NM_001330723.2(SNX27):c.1578+18T>C
|
rs781549825
|
0.00001
|
NM_001330723.2(SNX27):c.189G>A (p.Glu63=)
|
rs759507012
|
0.00001
|
NM_001330723.2(SNX27):c.198A>G (p.Gln66=)
|
rs1002510480
|
0.00001
|
NM_001330723.2(SNX27):c.199C>T (p.Leu67=)
|
rs375213675
|
0.00001
|
NM_001330723.2(SNX27):c.211A>G (p.Asn71Asp)
|
rs1225201475
|
0.00001
|
NM_001330723.2(SNX27):c.249C>T (p.Ala83=)
|
rs779378055
|
0.00001
|
NM_001330723.2(SNX27):c.252G>C (p.Val84=)
|
rs1415146870
|
0.00001
|
NM_001330723.2(SNX27):c.259G>C (p.Gly87Arg)
|
rs750944911
|
0.00001
|
NM_001330723.2(SNX27):c.261G>T (p.Gly87=)
|
rs1380455551
|
0.00001
|
NM_001330723.2(SNX27):c.263G>C (p.Gly88Ala)
|
rs1231812552
|
0.00001
|
NM_001330723.2(SNX27):c.264G>T (p.Gly88=)
|
rs369017951
|
0.00001
|
NM_001330723.2(SNX27):c.271G>T (p.Asp91Tyr)
|
rs747022780
|
0.00001
|
NM_001330723.2(SNX27):c.318C>T (p.His106=)
|
rs574875506
|
0.00001
|
NM_001330723.2(SNX27):c.336G>A (p.Ala112=)
|
rs567918235
|
0.00001
|
NM_001330723.2(SNX27):c.342C>T (p.His114=)
|
rs777998061
|
0.00001
|
NM_001330723.2(SNX27):c.345G>A (p.Lys115=)
|
rs371439707
|
0.00001
|
NM_001330723.2(SNX27):c.388T>A (p.Leu130Met)
|
rs767929616
|
0.00001
|
NM_001330723.2(SNX27):c.406C>T (p.Pro136Ser)
|
rs749569161
|
0.00001
|
NM_001330723.2(SNX27):c.441C>T (p.Asp147=)
|
rs769491747
|
0.00001
|
NM_001330723.2(SNX27):c.456A>G (p.Gln152=)
|
rs774725804
|
0.00001
|
NM_001330723.2(SNX27):c.49A>C (p.Asn17His)
|
rs1244369682
|
0.00001
|
NM_001330723.2(SNX27):c.527A>G (p.Asn176Ser)
|
rs377039099
|
0.00001
|
NM_001330723.2(SNX27):c.53G>C (p.Gly18Ala)
|
rs1009193539
|
0.00001
|
NM_001330723.2(SNX27):c.543+6_543+7insA
|
rs778540185
|
0.00001
|
NM_001330723.2(SNX27):c.546A>G (p.Val182=)
|
rs1035538892
|
0.00001
|
NM_001330723.2(SNX27):c.603T>C (p.Ala201=)
|
rs750670612
|
0.00001
|
NM_001330723.2(SNX27):c.703C>T (p.Arg235Ter)
|
rs770358039
|
0.00001
|
NM_001330723.2(SNX27):c.70G>T (p.Gly24Trp)
|
rs1054736706
|
0.00001
|
NM_001330723.2(SNX27):c.731A>G (p.Glu244Gly)
|
rs745573692
|
0.00001
|
NM_001330723.2(SNX27):c.737-13T>C
|
rs752497304
|
0.00001
|
NM_001330723.2(SNX27):c.737-6C>T
|
rs1030343321
|
0.00001
|
NM_001330723.2(SNX27):c.75G>A (p.Gly25=)
|
rs777499754
|
0.00001
|
NM_001330723.2(SNX27):c.774G>A (p.Met258Ile)
|
rs778326282
|
0.00001
|
NM_001330723.2(SNX27):c.786A>G (p.Leu262=)
|
rs745510590
|
0.00001
|
NM_001330723.2(SNX27):c.796G>A (p.Asp266Asn)
|
rs779687444
|
0.00001
|
NM_001330723.2(SNX27):c.801+15C>G
|
rs777119235
|
0.00001
|
NM_001330723.2(SNX27):c.848A>G (p.Asp283Gly)
|
rs776237861
|
0.00001
|
NM_001330723.2(SNX27):c.857C>T (p.Thr286Met)
|
rs540042464
|
0.00001
|
NM_001330723.2(SNX27):c.862A>G (p.Thr288Ala)
|
rs1198073102
|
0.00001
|
NM_001330723.2(SNX27):c.907-17A>G
|
rs762930553
|
0.00001
|
NM_001330723.2(SNX27):c.935G>A (p.Ser312Asn)
|
rs745875154
|
0.00001
|
NM_001330723.2(SNX27):c.948T>C (p.Asn316=)
|
rs780135529
|
0.00001
|
NM_001365536.1(SCN9A):c.1114C>T (p.Arg372Cys)
|
rs1234934110
|
0.00001
|
NM_001365536.1(SCN9A):c.3464T>A (p.Phe1155Tyr)
|
rs750839038
|
0.00001
|
NM_001365536.1(SCN9A):c.3497G>A (p.Cys1166Tyr)
|
rs370455223
|
0.00001
|
NM_001365536.1(SCN9A):c.5948G>T (p.Ser1983Ile)
|
rs770802841
|
0.00001
|
GRCh37/hg19 2q24.3(chr2:166152284-167760450)x1
|
|
|
GRCh37/hg19 2q24.3(chr2:166767837-167334206)
|
|
|
GRCh37/hg19 2q24.3(chr2:166872248-167334216)
|
|
|
NC_000001.10:g.(?_151122490)_(151585008_?)dup
|
|
|
NC_000002.11:g.(?_166847704)_(166930181_?)dup
|
|
|
NC_000002.11:g.(?_167055131)_(167168316_?)dup
|
|
|
NC_000002.12:g.(?_165985812)_(166002754_166009718)del
|
|
|
NC_000002.12:g.166051989del
|
rs1574266816
|
|
NM_001040142.2(SCN2A):c.4988T>C (p.Ile1663Thr)
|
rs2105402379
|
|
NM_001165963.1(SCN1A):c.384_964del
|
|
|
NM_001165963.1(SCN1A):c.4285_4476del
|
|
|
NM_001165963.4(SCN1A):c.-142G>A
|
rs2106003538
|
|
NM_001165963.4(SCN1A):c.1005del (p.Cys336fs)
|
|
|
NM_001165963.4(SCN1A):c.1006T>C (p.Cys336Arg)
|
|
|
NM_001165963.4(SCN1A):c.1007G>A (p.Cys336Tyr)
|
rs794726798
|
|
NM_001165963.4(SCN1A):c.1024G>T (p.Ala342Ser)
|
rs794726843
|
|
NM_001165963.4(SCN1A):c.1025C>A (p.Ala342Glu)
|
rs794726797
|
|
NM_001165963.4(SCN1A):c.1025C>T (p.Ala342Val)
|
rs794726797
|
|
NM_001165963.4(SCN1A):c.1028+1G>A
|
rs863225030
|
|
NM_001165963.4(SCN1A):c.1028+1G>T
|
rs863225030
|
|
NM_001165963.4(SCN1A):c.1028+1del
|
rs886041980
|
|
NM_001165963.4(SCN1A):c.1028G>A (p.Gly343Asp)
|
rs121918753
|
|
NM_001165963.4(SCN1A):c.1033T>C (p.Cys345Arg)
|
rs794726782
|
|
NM_001165963.4(SCN1A):c.1037C>T (p.Pro346Leu)
|
rs2105868295
|
|
NM_001165963.4(SCN1A):c.1046A>G (p.Tyr349Cys)
|
rs794726844
|
|
NM_001165963.4(SCN1A):c.1048A>G (p.Met350Val)
|
rs794726768
|
|
NM_001165963.4(SCN1A):c.1055_1056del (p.Val352fs)
|
rs794726767
|
|
NM_001165963.4(SCN1A):c.1060G>C (p.Ala354Pro)
|
rs1698022280
|
|
NM_001165963.4(SCN1A):c.1066A>G (p.Arg356Gly)
|
rs121917920
|
|
NM_001165963.4(SCN1A):c.1072C>A (p.Pro358Thr)
|
rs121917923
|
|
NM_001165963.4(SCN1A):c.1072C>G (p.Pro358Ala)
|
rs121917923
|
|
NM_001165963.4(SCN1A):c.1072C>T (p.Pro358Ser)
|
rs121917923
|
|
NM_001165963.4(SCN1A):c.1076A>G (p.Asn359Ser)
|
rs794726713
|
|
NM_001165963.4(SCN1A):c.1077T>A (p.Asn359Lys)
|
rs1574240716
|
|
NM_001165963.4(SCN1A):c.1082_1092del (p.Gly361fs)
|
rs2105867534
|
|
NM_001165963.4(SCN1A):c.1096_1115del (p.Asp366fs)
|
rs794726792
|
|
NM_001165963.4(SCN1A):c.1098T>A (p.Asp366Glu)
|
rs121917958
|
|
NM_001165963.4(SCN1A):c.1111G>C (p.Ala371Pro)
|
rs1698009615
|
|
NM_001165963.4(SCN1A):c.1118T>C (p.Leu373Ser)
|
rs1553547448
|
|
NM_001165963.4(SCN1A):c.1118del (p.Leu373fs)
|
rs794726695
|
|
NM_001165963.4(SCN1A):c.1129C>T (p.Arg377Ter)
|
rs794726799
|
|
NM_001165963.4(SCN1A):c.1130G>A (p.Arg377Gln)
|
rs121917957
|
|
NM_001165963.4(SCN1A):c.1133del (p.Leu378fs)
|
rs1698004184
|
|
NM_001165963.4(SCN1A):c.1134_1136del (p.Met379del)
|
rs2105867004
|
|
NM_001165963.4(SCN1A):c.1136T>A (p.Met379Lys)
|
rs794726732
|
|
NM_001165963.4(SCN1A):c.1146C>A (p.Asp382Glu)
|
rs794726753
|
|
NM_001165963.4(SCN1A):c.1149C>G (p.Phe383Leu)
|
rs121917939
|
|
NM_001165963.4(SCN1A):c.1164delinsGG (p.Tyr388Ter)
|
rs1697997770
|
|
NM_001165963.4(SCN1A):c.1170+1G>T
|
rs794726765
|
|
NM_001165963.4(SCN1A):c.1177C>A (p.Arg393Ser)
|
rs121917929
|
|
NM_001165963.4(SCN1A):c.1177C>T (p.Arg393Cys)
|
rs121917929
|
|
NM_001165963.4(SCN1A):c.1178G>A (p.Arg393His)
|
rs121917927
|
|
NM_001165963.4(SCN1A):c.1182_1183insA (p.Ala395fs)
|
rs794726777
|
|
NM_001165963.4(SCN1A):c.1183_1184del (p.Ala395fs)
|
rs794726776
|
|
NM_001165963.4(SCN1A):c.1186G>A (p.Gly396Arg)
|
|
|
NM_001165963.4(SCN1A):c.1197_1198del (p.Met400fs)
|
rs794726818
|
|
NM_001165963.4(SCN1A):c.1199T>A (p.Met400Lys)
|
rs794726725
|
|
NM_001165963.4(SCN1A):c.1204T>A (p.Phe402Ile)
|
rs796053094
|
|
NM_001165963.4(SCN1A):c.1207T>C (p.Phe403Leu)
|
rs121917966
|
|
NM_001165963.4(SCN1A):c.1216G>T (p.Val406Phe)
|
rs121918768
|
|
NM_001165963.4(SCN1A):c.121A>T (p.Lys41Ter)
|
rs764444350
|
|
NM_001165963.4(SCN1A):c.1223del (p.Phe408fs)
|
|
|
NM_001165963.4(SCN1A):c.1237T>A (p.Tyr413Asn)
|
rs121917967
|
|
NM_001165963.4(SCN1A):c.1247A>G (p.Asn416Ser)
|
rs2105862220
|
|
NM_001165963.4(SCN1A):c.1259C>T (p.Ala420Val)
|
rs794726826
|
|
NM_001165963.4(SCN1A):c.1261G>A (p.Val421Met)
|
rs781507889
|
|
NM_001165963.4(SCN1A):c.1264G>A (p.Val422Met)
|
rs886042528
|
|
NM_001165963.4(SCN1A):c.1265T>C (p.Val422Ala)
|
rs121917989
|
|
NM_001165963.4(SCN1A):c.126del (p.Asp43fs)
|
rs1553560831
|
|
NM_001165963.4(SCN1A):c.126dup (p.Asp43fs)
|
rs1553560831
|
|
NM_001165963.4(SCN1A):c.1276T>A (p.Tyr426Asn)
|
rs121917940
|
|
NM_001165963.4(SCN1A):c.1277A>G (p.Tyr426Cys)
|
rs796052973
|
|
NM_001165963.4(SCN1A):c.1285C>A (p.Gln429Lys)
|
|
|
NM_001165963.4(SCN1A):c.1301del (p.Leu434fs)
|
rs794726810
|
|
NM_001165963.4(SCN1A):c.1303del (p.Glu435fs)
|
rs2105861548
|
|
NM_001165963.4(SCN1A):c.1337del (p.Gln446fs)
|
|
|
NM_001165963.4(SCN1A):c.1345G>T (p.Glu449Ter)
|
rs794726807
|
|
NM_001165963.4(SCN1A):c.1354A>T (p.Lys452Ter)
|
rs1553546668
|
|
NM_001165963.4(SCN1A):c.1377+1G>A
|
|
|
NM_001165963.4(SCN1A):c.141del (p.Asn47fs)
|
rs796053076
|
|
NM_001165963.4(SCN1A):c.1423_1424delinsCT (p.Ala475Leu)
|
rs2105852411
|
|
NM_001165963.4(SCN1A):c.1436T>C (p.Leu479Pro)
|
rs1697679015
|
|
NM_001165963.4(SCN1A):c.1442_1445del (p.Asp481fs)
|
rs794726829
|
|
NM_001165963.4(SCN1A):c.1466T>A (p.Leu489Ter)
|
rs1553545740
|
|
NM_001165963.4(SCN1A):c.1489del (p.Arg497fs)
|
rs1697667767
|
|
NM_001165963.4(SCN1A):c.1516C>T (p.Gln506Ter)
|
rs794726790
|
|
NM_001165963.4(SCN1A):c.1543A>T (p.Lys515Ter)
|
rs1553545567
|
|
NM_001165963.4(SCN1A):c.1624C>T (p.Arg542Ter)
|
|
|
NM_001165963.4(SCN1A):c.1639_1640del (p.Lys547fs)
|
rs2105850165
|
|
NM_001165963.4(SCN1A):c.1660dup (p.Gln554fs)
|
rs794726717
|
|
NM_001165963.4(SCN1A):c.1662+1G>C
|
rs794726749
|
|
NM_001165963.4(SCN1A):c.1662+1G>T
|
rs794726749
|
|
NM_001165963.4(SCN1A):c.1662+3A>G
|
rs794726773
|
|
NM_001165963.4(SCN1A):c.1663_2176del (p.Ser555Asnfs*21)
|
|
|
NM_001165963.4(SCN1A):c.1667del (p.Leu556fs)
|
rs794726704
|
|
NM_001165963.4(SCN1A):c.1702C>T (p.Arg568Ter)
|
rs886039430
|
|
NM_001165963.4(SCN1A):c.1709G>A (p.Ser570Asn)
|
rs1057518703
|
|
NM_001165963.4(SCN1A):c.1738C>T (p.Arg580Ter)
|
rs794726736
|
|
NM_001165963.4(SCN1A):c.173G>T (p.Gly58Val)
|
|
|
NM_001165963.4(SCN1A):c.1804G>T (p.Glu602Ter)
|
rs794726834
|
|
NM_001165963.4(SCN1A):c.1810dup (p.Arg604fs)
|
rs1574217232
|
|
NM_001165963.4(SCN1A):c.181del (p.Leu61fs)
|
rs2105982815
|
|
NM_001165963.4(SCN1A):c.1834C>T (p.Arg612Ter)
|
rs794726778
|
|
NM_001165963.4(SCN1A):c.1837C>T (p.Arg613Ter)
|
rs398123585
|
|
NM_001165963.4(SCN1A):c.185del (p.Pro62fs)
|
rs35595680
|
|
NM_001165963.4(SCN1A):c.1876A>G (p.Ser626Gly)
|
rs121917990
|
|
NM_001165963.4(SCN1A):c.1898C>T (p.Ala633Val)
|
rs1574215846
|
|
NM_001165963.4(SCN1A):c.1970C>T (p.Pro657Leu)
|
rs794726838
|
|
NM_001165963.4(SCN1A):c.2012T>C (p.Val671Ala)
|
rs1574214843
|
|
NM_001165963.4(SCN1A):c.2020_2023del (p.Asp674fs)
|
rs1553544470
|
|
NM_001165963.4(SCN1A):c.2043+1G>A
|
rs751533302
|
|
NM_001165963.4(SCN1A):c.2044G>A (p.Gly682Arg)
|
rs1398374184
|
|
NM_001165963.4(SCN1A):c.2044_6030del
|
|
|
NM_001165963.4(SCN1A):c.2048C>A (p.Thr683Lys)
|
|
|
NM_001165963.4(SCN1A):c.2071A>T (p.Lys691Ter)
|
rs794726747
|
|
NM_001165963.4(SCN1A):c.207del (p.Pro70fs)
|
rs1574371902
|
|
NM_001165963.4(SCN1A):c.2100del (p.Met701fs)
|
rs794726806
|
|
NM_001165963.4(SCN1A):c.2131C>T (p.Gln711Ter)
|
rs1574209023
|
|
NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter)
|
rs794726730
|
|
NM_001165963.4(SCN1A):c.2147_2150del (p.Ile716fs)
|
rs1574208760
|
|
NM_001165963.4(SCN1A):c.2167del (p.Thr723fs)
|
|
|
NM_001165963.4(SCN1A):c.2176+3T>A
|
rs794726795
|
|
NM_001165963.4(SCN1A):c.2177-11dup
|
rs11394960
|
|
NM_001165963.4(SCN1A):c.2177-2A>T
|
rs1436792531
|
|
NM_001165963.4(SCN1A):c.2213G>A (p.Trp738Ter)
|
rs794726742
|
|
NM_001165963.4(SCN1A):c.2213G>T (p.Trp738Leu)
|
rs794726742
|
|
NM_001165963.4(SCN1A):c.2214G>A (p.Trp738Ter)
|
rs786205214
|
|
NM_001165963.4(SCN1A):c.2261G>T (p.Trp754Leu)
|
rs794726743
|
|
NM_001165963.4(SCN1A):c.2299_2302dup (p.Pro768fs)
|
rs794726750
|
|
NM_001165963.4(SCN1A):c.2303C>T (p.Pro768Leu)
|
rs794726766
|
|
NM_001165963.4(SCN1A):c.2318_2319insT (p.Ile774fs)
|
rs794726820
|
|
NM_001165963.4(SCN1A):c.2344A>C (p.Thr782Pro)
|
|
|
NM_001165963.4(SCN1A):c.2348T>C (p.Leu783Pro)
|
rs121917968
|
|
NM_001165963.4(SCN1A):c.234G>T (p.Glu78Asp)
|
rs121917933
|
|
NM_001165963.4(SCN1A):c.2350_2351del (p.Phe784fs)
|
rs1553543215
|
|
NM_001165963.4(SCN1A):c.2353A>G (p.Met785Val)
|
rs767045134
|
|
NM_001165963.4(SCN1A):c.235G>C (p.Asp79His)
|
rs121917982
|
|
NM_001165963.4(SCN1A):c.238dup (p.Leu80fs)
|
rs1684663586
|
|
NM_001165963.4(SCN1A):c.2393_2404del (p.Asn798_Val802delinsIle)
|
rs1697127484
|
|
NM_001165963.4(SCN1A):c.2415+1G>A
|
rs886041292
|
|
NM_001165963.4(SCN1A):c.2415+1G>T
|
|
|
NM_001165963.4(SCN1A):c.2415+2T>C
|
rs1574201555
|
|
NM_001165963.4(SCN1A):c.2415+9A>G
|
rs2105827142
|
|
NM_001165963.4(SCN1A):c.241G>A (p.Asp81Asn)
|
|
|
NM_001165963.4(SCN1A):c.2422A>T (p.Thr808Ser)
|
rs121918758
|
|
NM_001165963.4(SCN1A):c.242A>G (p.Asp81Gly)
|
rs1684663181
|
|
NM_001165963.4(SCN1A):c.2435C>G (p.Thr812Arg)
|
rs121917941
|
|
NM_001165963.4(SCN1A):c.2479T>G (p.Tyr827Asp)
|
rs794726805
|
|
NM_001165963.4(SCN1A):c.249C>A (p.Tyr83Ter)
|
rs863225031
|
|
NM_001165963.4(SCN1A):c.251A>G (p.Tyr84Cys)
|
rs121917964
|
|
NM_001165963.4(SCN1A):c.2523_2524del (p.Thr841_Leu842insTer)
|
rs794726738
|
|
NM_001165963.4(SCN1A):c.2536G>A (p.Glu846Lys)
|
rs121917942
|
|
NM_001165963.4(SCN1A):c.2537A>G (p.Glu846Gly)
|
rs794726794
|
|
NM_001165963.4(SCN1A):c.2584C>G (p.Arg862Gly)
|
rs397514459
|
|
NM_001165963.4(SCN1A):c.2584C>T (p.Arg862Ter)
|
rs397514459
|
|
NM_001165963.4(SCN1A):c.2585G>A (p.Arg862Gln)
|
rs121918785
|
|
NM_001165963.4(SCN1A):c.2588T>G (p.Leu863Trp)
|
rs794726712
|
|
NM_001165963.4(SCN1A):c.2589+1G>C
|
|
|
NM_001165963.4(SCN1A):c.2589+2dup
|
|
|
NM_001165963.4(SCN1A):c.2589+3A>T
|
rs794726775
|
|
NM_001165963.4(SCN1A):c.2593C>T (p.Arg865Ter)
|
rs794726697
|
|
NM_001165963.4(SCN1A):c.2603del (p.Lys868fs)
|
rs794726787
|
|
NM_001165963.4(SCN1A):c.2615C>A (p.Ser872Tyr)
|
rs794726786
|
|
NM_001165963.4(SCN1A):c.2618G>A (p.Trp873Ter)
|
rs2105808640
|
|
NM_001165963.4(SCN1A):c.2624C>A (p.Thr875Lys)
|
rs121918623
|
|
NM_001165963.4(SCN1A):c.2624C>T (p.Thr875Met)
|
rs121918623
|
|
NM_001165963.4(SCN1A):c.262_264+1del
|
rs1574371141
|
|
NM_001165963.4(SCN1A):c.264+4_264+7del
|
rs1574370981
|
|
NM_001165963.4(SCN1A):c.264+5G>A
|
rs794726762
|
|
NM_001165963.4(SCN1A):c.264+5G>C
|
rs794726762
|
|
NM_001165963.4(SCN1A):c.265-2143G>A
|
rs1574312497
|
|
NM_001165963.4(SCN1A):c.2665G>A (p.Ala889Thr)
|
rs1266877537
|
|
NM_001165963.4(SCN1A):c.2678T>A (p.Leu893Ter)
|
rs794726815
|
|
NM_001165963.4(SCN1A):c.2680dup (p.Thr894fs)
|
rs1696660743
|
|
NM_001165963.4(SCN1A):c.2690T>C (p.Leu897Ser)
|
rs794726761
|
|
NM_001165963.4(SCN1A):c.2691G>T (p.Leu897Phe)
|
rs1574183148
|
|
NM_001165963.4(SCN1A):c.269T>C (p.Phe90Ser)
|
rs121918733
|
|
NM_001165963.4(SCN1A):c.2705T>G (p.Phe902Cys)
|
rs121918787
|
|
NM_001165963.4(SCN1A):c.2710T>G (p.Phe904Val)
|
rs1696653174
|
|
NM_001165963.4(SCN1A):c.2720T>G (p.Val907Gly)
|
|
|
NM_001165963.4(SCN1A):c.2728C>A (p.Gln910Lys)
|
rs794726721
|
|
NM_001165963.4(SCN1A):c.2728C>T (p.Gln910Ter)
|
rs794726721
|
|
NM_001165963.4(SCN1A):c.272T>C (p.Ile91Thr)
|
rs121918734
|
|
NM_001165963.4(SCN1A):c.2739T>C (p.Gly913=)
|
|
|
NM_001165963.4(SCN1A):c.2758_2759del (p.Val920fs)
|
rs1574182550
|
|
NM_001165963.4(SCN1A):c.2780G>T (p.Cys927Phe)
|
rs794726811
|
|
NM_001165963.4(SCN1A):c.2791C>A (p.Arg931Ser)
|
rs121918788
|
|
NM_001165963.4(SCN1A):c.2791C>T (p.Arg931Cys)
|
rs121918788
|
|
NM_001165963.4(SCN1A):c.2792G>A (p.Arg931His)
|
rs794726718
|
|
NM_001165963.4(SCN1A):c.2792G>C (p.Arg931Pro)
|
rs794726718
|
|
NM_001165963.4(SCN1A):c.2792G>T (p.Arg931Leu)
|
rs794726718
|
|
NM_001165963.4(SCN1A):c.2802G>C (p.Met934Ile)
|
rs121918774
|
|
NM_001165963.4(SCN1A):c.2806G>C (p.Asp936His)
|
rs796052988
|
|
NM_001165963.4(SCN1A):c.2815C>T (p.His939Tyr)
|
rs121918736
|
|
NM_001165963.4(SCN1A):c.2815del (p.His939fs)
|
|
|
NM_001165963.4(SCN1A):c.2817C>G (p.His939Gln)
|
rs121918795
|
|
NM_001165963.4(SCN1A):c.2825T>C (p.Leu942Pro)
|
rs121917943
|
|
NM_001165963.4(SCN1A):c.2831T>C (p.Val944Ala)
|
rs121917969
|
|
NM_001165963.4(SCN1A):c.2833T>C (p.Phe945Leu)
|
rs121917970
|
|
NM_001165963.4(SCN1A):c.2836C>A (p.Arg946Ser)
|
rs121918775
|
|
NM_001165963.4(SCN1A):c.2836C>T (p.Arg946Cys)
|
rs121918775
|
|
NM_001165963.4(SCN1A):c.2837G>A (p.Arg946His)
|
|
|
NM_001165963.4(SCN1A):c.2837G>C (p.Arg946Pro)
|
rs121917971
|
|
NM_001165963.4(SCN1A):c.2846G>A (p.Cys949Tyr)
|
rs1696624989
|
|
NM_001165963.4(SCN1A):c.2846G>T (p.Cys949Phe)
|
|
|
NM_001165963.4(SCN1A):c.2847del (p.Cys949fs)
|
|
|
NM_001165963.4(SCN1A):c.2849G>A (p.Gly950Glu)
|
rs121917972
|
|
NM_001165963.4(SCN1A):c.2854T>G (p.Trp952Gly)
|
rs121918737
|
|
NM_001165963.4(SCN1A):c.2860G>A (p.Glu954Lys)
|
rs121918786
|
|
NM_001165963.4(SCN1A):c.2862_2863dup (p.Thr955fs)
|
|
|
NM_001165963.4(SCN1A):c.2870G>T (p.Trp957Leu)
|
rs121917917
|
|
NM_001165963.4(SCN1A):c.2872_2881del (p.Asp958fs)
|
rs794726808
|
|
NM_001165963.4(SCN1A):c.2875T>C (p.Cys959Arg)
|
rs121918796
|
|
NM_001165963.4(SCN1A):c.2876G>A (p.Cys959Tyr)
|
rs794726716
|
|
NM_001165963.4(SCN1A):c.2878A>G (p.Met960Val)
|
rs121918750
|
|
NM_001165963.4(SCN1A):c.2879T>G (p.Met960Arg)
|
rs794726708
|
|
NM_001165963.4(SCN1A):c.289_292del (p.Lys97fs)
|
rs794726796
|
|
NM_001165963.4(SCN1A):c.2903G>T (p.Cys968Phe)
|
rs794726823
|
|
NM_001165963.4(SCN1A):c.2915T>G (p.Phe972Cys)
|
rs2105805621
|
|
NM_001165963.4(SCN1A):c.2929G>A (p.Val977Met)
|
rs794726828
|
|
NM_001165963.4(SCN1A):c.2935G>A (p.Gly979Arg)
|
rs121918754
|
|
NM_001165963.4(SCN1A):c.2936G>A (p.Gly979Glu)
|
rs794726842
|
|
NM_001165963.4(SCN1A):c.2946+1G>T
|
rs794726772
|
|
NM_001165963.4(SCN1A):c.2946+1_2946+2del
|
rs794726714
|
|
NM_001165963.4(SCN1A):c.2947del
|
rs1696406839
|
|
NM_001165963.4(SCN1A):c.2948T>C (p.Val983Ala)
|
rs121918756
|
|
NM_001165963.4(SCN1A):c.2954A>T (p.Asn985Ile)
|
rs121918747
|
|
NM_001165963.4(SCN1A):c.2956C>T (p.Leu986Phe)
|
rs121918625
|
|
NM_001165963.4(SCN1A):c.2958_2959del (p.Phe987fs)
|
rs794729207
|
|
NM_001165963.4(SCN1A):c.2963T>G (p.Leu988Arg)
|
rs1696403356
|
|
NM_001165963.4(SCN1A):c.2971C>T (p.Leu991Phe)
|
rs1696401617
|
|
NM_001165963.4(SCN1A):c.2975T>C (p.Leu992Pro)
|
rs1696400496
|
|
NM_001165963.4(SCN1A):c.2980_2981del (p.Ser994fs)
|
rs794726830
|
|
NM_001165963.4(SCN1A):c.2985T>G (p.Phe995Leu)
|
rs794726746
|
|
NM_001165963.4(SCN1A):c.2994C>A (p.Asp998Glu)
|
rs796052991
|
|
NM_001165963.4(SCN1A):c.3017del (p.Asp1006fs)
|
rs794726813
|
|
NM_001165963.4(SCN1A):c.301C>T (p.Arg101Trp)
|
rs121917965
|
|
NM_001165963.4(SCN1A):c.302G>A (p.Arg101Gln)
|
rs121917918
|
|
NM_001165963.4(SCN1A):c.3032A>T (p.Asn1011Ile)
|
rs121918759
|
|
NM_001165963.4(SCN1A):c.3038_3044del (p.Gln1013fs)
|
|
|
NM_001165963.4(SCN1A):c.3062_3066del (p.Lys1021fs)
|
rs794726756
|
|
NM_001165963.4(SCN1A):c.307A>G (p.Ser103Gly)
|
rs121918743
|
|
NM_001165963.4(SCN1A):c.308G>T (p.Ser103Ile)
|
rs760361423
|
|
NM_001165963.4(SCN1A):c.3106C>T (p.Gln1036Ter)
|
rs542420576
|
|
NM_001165963.4(SCN1A):c.311C>A (p.Ala104Asp)
|
rs1553553527
|
|
NM_001165963.4(SCN1A):c.3124C>T (p.Gln1042Ter)
|
rs1553540342
|
|
NM_001165963.4(SCN1A):c.314C>A (p.Thr105Asn)
|
|
|
NM_001165963.4(SCN1A):c.3173_3176del (p.Lys1058fs)
|
rs1696358124
|
|
NM_001165963.4(SCN1A):c.3182del (p.Cys1061fs)
|
|
|
NM_001165963.4(SCN1A):c.323T>C (p.Leu108Pro)
|
rs794726793
|
|
NM_001165963.4(SCN1A):c.3306C>A (p.Tyr1102Ter)
|
rs863225032
|
|
NM_001165963.4(SCN1A):c.3311C>G (p.Ser1104Ter)
|
rs1574168611
|
|
NM_001165963.4(SCN1A):c.335C>T (p.Thr112Ile)
|
rs121918745
|
|
NM_001165963.4(SCN1A):c.337C>A (p.Pro113Thr)
|
rs794726711
|
|
NM_001165963.4(SCN1A):c.338C>G (p.Pro113Arg)
|
rs1553553462
|
|
NM_001165963.4(SCN1A):c.3429+1G>T
|
rs1574166948
|
|
NM_001165963.4(SCN1A):c.3439G>T (p.Glu1147Ter)
|
rs794726733
|
|
NM_001165963.4(SCN1A):c.3451T>C (p.Ser1151Pro)
|
rs1693190884
|
|
NM_001165963.4(SCN1A):c.3455C>A (p.Ser1152Ter)
|
rs794726728
|
|
NM_001165963.4(SCN1A):c.345T>A (p.Asn115Lys)
|
rs61741123
|
|
NM_001165963.4(SCN1A):c.3477del (p.Ile1159fs)
|
rs794726729
|
|
NM_001165963.4(SCN1A):c.3487del (p.Pro1162_Val1163insTer)
|
rs794726774
|
|
NM_001165963.4(SCN1A):c.3496C>T (p.Gln1166Ter)
|
rs368609628
|
|
NM_001165963.4(SCN1A):c.3512C>T (p.Pro1171Leu)
|
rs1559152754
|
|
NM_001165963.4(SCN1A):c.352A>G (p.Arg118Gly)
|
rs2105917940
|
|
NM_001165963.4(SCN1A):c.3531_3534dup (p.Ala1179fs)
|
rs1574069132
|
|
NM_001165963.4(SCN1A):c.354G>C (p.Arg118Ser)
|
rs121917959
|
|
NM_001165963.4(SCN1A):c.354G>T (p.Arg118Ser)
|
rs121917959
|
|
NM_001165963.4(SCN1A):c.3550+1G>A
|
rs794726836
|
|
NM_001165963.4(SCN1A):c.3609del (p.Gln1203fs)
|
rs1574061044
|
|
NM_001165963.4(SCN1A):c.3611G>A (p.Trp1204Ter)
|
rs1559149128
|
|
NM_001165963.4(SCN1A):c.3612G>A (p.Trp1204Ter)
|
rs1553532671
|
|
NM_001165963.4(SCN1A):c.3615G>A (p.Trp1205Ter)
|
rs794726720
|
|
NM_001165963.4(SCN1A):c.3620T>C (p.Leu1207Pro)
|
rs121917963
|
|
NM_001165963.4(SCN1A):c.3629C>A (p.Thr1210Lys)
|
rs121918738
|
|
NM_001165963.4(SCN1A):c.3637C>T (p.Arg1213Ter)
|
rs794726710
|
|
NM_001165963.4(SCN1A):c.3657G>A (p.Trp1219Ter)
|
rs863225033
|
|
NM_001165963.4(SCN1A):c.3661G>C (p.Glu1221Gln)
|
rs794726854
|
|
NM_001165963.4(SCN1A):c.3690dup (p.Ser1231Ter)
|
rs1057519534
|
|
NM_001165963.4(SCN1A):c.3692G>C (p.Ser1231Thr)
|
rs121918800
|
|
NM_001165963.4(SCN1A):c.3693T>A (p.Ser1231Arg)
|
rs121918746
|
|
NM_001165963.4(SCN1A):c.3697G>A (p.Gly1233Ser)
|
|
|
NM_001165963.4(SCN1A):c.3697G>C (p.Gly1233Arg)
|
rs121917911
|
|
NM_001165963.4(SCN1A):c.36del (p.Asp12fs)
|
rs1684704927
|
|
NM_001165963.4(SCN1A):c.3704del (p.Leu1235fs)
|
rs869312670
|
|
NM_001165963.4(SCN1A):c.3705+1G>A
|
rs794726744
|
|
NM_001165963.4(SCN1A):c.3705+2T>A
|
rs794726735
|
|
NM_001165963.4(SCN1A):c.3705+5G>A
|
rs1060502189
|
|
NM_001165963.4(SCN1A):c.3706G>C (p.Ala1236Pro)
|
rs794726770
|
|
NM_001165963.4(SCN1A):c.371T>A (p.Ile124Asn)
|
rs121918761
|
|
NM_001165963.4(SCN1A):c.3726_3727insAT (p.Asp1243fs)
|
rs794726706
|
|
NM_001165963.4(SCN1A):c.3730C>T (p.Gln1244Ter)
|
rs794726727
|
|
NM_001165963.4(SCN1A):c.3733C>T (p.Arg1245Ter)
|
rs727504136
|
|
NM_001165963.4(SCN1A):c.3757G>T (p.Glu1253Ter)
|
rs794726817
|
|
NM_001165963.4(SCN1A):c.3757_3763dup (p.Ala1255fs)
|
rs1574052179
|
|
NM_001165963.4(SCN1A):c.3763G>C (p.Ala1255Pro)
|
rs777939538
|
|
NM_001165963.4(SCN1A):c.3778A>C (p.Thr1260Pro)
|
rs121918739
|
|
NM_001165963.4(SCN1A):c.3789C>G (p.Phe1263Leu)
|
rs121918752
|
|
NM_001165963.4(SCN1A):c.3794T>C (p.Leu1265Pro)
|
rs121918794
|
|
NM_001165963.4(SCN1A):c.3802_3812del (p.Leu1268fs)
|
rs794726709
|
|
NM_001165963.4(SCN1A):c.380A>T (p.His127Leu)
|
rs794726831
|
|
NM_001165963.4(SCN1A):c.3818C>T (p.Ala1273Val)
|
rs794726841
|
|
NM_001165963.4(SCN1A):c.3821A>C (p.Tyr1274Ser)
|
rs794726852
|
|
NM_001165963.4(SCN1A):c.3828T>A (p.Tyr1276Ter)
|
rs794726731
|
|
NM_001165963.4(SCN1A):c.383+1A>G
|
rs794726803
|
|
NM_001165963.4(SCN1A):c.3837T>G (p.Tyr1279Ter)
|
|
|
NM_001165963.4(SCN1A):c.384-12A>C
|
rs1574291210
|
|
NM_001165963.4(SCN1A):c.384-1C>G
|
rs794726764
|
|
NM_001165963.4(SCN1A):c.3844A>G (p.Asn1282Asp)
|
rs1692549700
|
|
NM_001165963.4(SCN1A):c.384_1662dup
|
|
|
NM_001165963.4(SCN1A):c.3850T>C (p.Trp1284Arg)
|
rs796053001
|
|
NM_001165963.4(SCN1A):c.3852del (p.Trp1284fs)
|
rs863225034
|
|
NM_001165963.4(SCN1A):c.3858G>A (p.Trp1286Ter)
|
rs794726853
|
|
NM_001165963.4(SCN1A):c.3860T>C (p.Leu1287Pro)
|
rs121918740
|
|
NM_001165963.4(SCN1A):c.3862G>T (p.Asp1288Tyr)
|
rs1553531134
|
|
NM_001165963.4(SCN1A):c.3879+1G>T
|
rs794726700
|
|
NM_001165963.4(SCN1A):c.3879+5G>T
|
rs796052999
|
|
NM_001165963.4(SCN1A):c.3880-2A>G
|
rs794726816
|
|
NM_001165963.4(SCN1A):c.3880-2_3880-1del
|
|
|
NM_001165963.4(SCN1A):c.3889dup (p.Val1297fs)
|
rs2105571418
|
|
NM_001165963.4(SCN1A):c.3899C>G (p.Thr1300Arg)
|
rs146878122
|
|
NM_001165963.4(SCN1A):c.38G>T (p.Ser13Ile)
|
rs1684704155
|
|
NM_001165963.4(SCN1A):c.3944_3945del (p.Leu1315fs)
|
rs1692166604
|
|
NM_001165963.4(SCN1A):c.3953T>C (p.Leu1318Pro)
|
rs1692164539
|
|
NM_001165963.4(SCN1A):c.3961_3962del (p.Leu1321fs)
|
|
|
NM_001165963.4(SCN1A):c.3970_3971dup (p.Leu1324_Arg1325insTer)
|
rs794726723
|
|
NM_001165963.4(SCN1A):c.3976G>C (p.Ala1326Pro)
|
rs121918803
|
|
NM_001165963.4(SCN1A):c.3985C>T (p.Arg1329Ter)
|
rs796053004
|
|
NM_001165963.4(SCN1A):c.4002+1195_4284+346delinsTATT
|
|
|
NM_001165963.4(SCN1A):c.4002+1G>T
|
rs1692153643
|
|
NM_001165963.4(SCN1A):c.4002+2420G>A
|
|
|
NM_001165963.4(SCN1A):c.4002+2451G>C
|
rs869312684
|
|
NM_001165963.4(SCN1A):c.4002+2543A>G
|
|
|
NM_001165963.4(SCN1A):c.4003-14C>T
|
rs1241008825
|
|
NM_001165963.4(SCN1A):c.4003-1G>A
|
rs1574007140
|
|
NM_001165963.4(SCN1A):c.4003-4T>G
|
|
|
NM_001165963.4(SCN1A):c.4003-603T>C
|
|
|
NM_001165963.4(SCN1A):c.4003G>A (p.Val1335Met)
|
rs121917960
|
|
NM_001165963.4(SCN1A):c.4007T>G (p.Val1336Gly)
|
rs1691097432
|
|
NM_001165963.4(SCN1A):c.4016C>T (p.Ala1339Val)
|
rs794726789
|
|
NM_001165963.4(SCN1A):c.4040T>A (p.Ile1347Asn)
|
rs1553525325
|
|
NM_001165963.4(SCN1A):c.4044G>A (p.Met1348Ile)
|
rs794726822
|
|
NM_001165963.4(SCN1A):c.4048G>A (p.Val1350Met)
|
rs1574006637
|
|
NM_001165963.4(SCN1A):c.404T>C (p.Met135Thr)
|
rs1574290850
|
|
NM_001165963.4(SCN1A):c.4055T>C (p.Leu1352Pro)
|
rs794726821
|
|
NM_001165963.4(SCN1A):c.4064T>C (p.Leu1355Pro)
|
rs121918776
|
|
NM_001165963.4(SCN1A):c.4073G>C (p.Trp1358Ser)
|
rs121917961
|
|
NM_001165963.4(SCN1A):c.4086C>G (p.Ser1362Arg)
|
rs794726779
|
|
NM_001165963.4(SCN1A):c.4088T>A (p.Ile1363Asn)
|
rs794726707
|
|
NM_001165963.4(SCN1A):c.4094G>A (p.Gly1365Asp)
|
rs1691073965
|
|
NM_001165963.4(SCN1A):c.4101T>A (p.Asn1367Lys)
|
rs121918760
|
|
NM_001165963.4(SCN1A):c.4124A>C (p.His1375Pro)
|
|
|
NM_001165963.4(SCN1A):c.4133A>T (p.Asn1378Ile)
|
rs1131691775
|
|
NM_001165963.4(SCN1A):c.4146del (p.Asp1383fs)
|
rs1574005699
|
|
NM_001165963.4(SCN1A):c.4168G>A (p.Val1390Met)
|
rs121917986
|
|
NM_001165963.4(SCN1A):c.4168G>C (p.Val1390Leu)
|
rs121917986
|
|
NM_001165963.4(SCN1A):c.4178A>C (p.His1393Pro)
|
|
|
NM_001165963.4(SCN1A):c.4186T>G (p.Cys1396Gly)
|
rs121917987
|
|
NM_001165963.4(SCN1A):c.4188C>A (p.Cys1396Ter)
|
rs794726745
|
|
NM_001165963.4(SCN1A):c.4219C>T (p.Arg1407Ter)
|
rs398123593
|
|
NM_001165963.4(SCN1A):c.4223G>A (p.Trp1408Ter)
|
rs794726784
|
|
NM_001165963.4(SCN1A):c.4234A>G (p.Lys1412Glu)
|
rs1553524977
|
|
NM_001165963.4(SCN1A):c.4240A>T (p.Asn1414Tyr)
|
rs121917925
|
|
NM_001165963.4(SCN1A):c.4244T>G (p.Phe1415Cys)
|
|
|
NM_001165963.4(SCN1A):c.4244_4245del (p.Asn1414_Phe1415insTer)
|
rs794726705
|
|
NM_001165963.4(SCN1A):c.4265A>G (p.Tyr1422Cys)
|
rs121917913
|
|
NM_001165963.4(SCN1A):c.4266T>A (p.Tyr1422Ter)
|
rs863225035
|
|
NM_001165963.4(SCN1A):c.4270T>C (p.Ser1424Pro)
|
|
|
NM_001165963.4(SCN1A):c.4277T>G (p.Leu1426Arg)
|
rs121917944
|
|
NM_001165963.4(SCN1A):c.4279C>T (p.Gln1427Ter)
|
|
|
NM_001165963.4(SCN1A):c.4284+1G>A
|
rs1553524865
|
|
NM_001165963.4(SCN1A):c.4297G>A (p.Gly1433Arg)
|
rs121917908
|
|
NM_001165963.4(SCN1A):c.4298G>A (p.Gly1433Glu)
|
rs121918741
|
|
NM_001165963.4(SCN1A):c.429_430del (p.Phe144fs)
|
rs1699147493
|
|
NM_001165963.4(SCN1A):c.4300T>C (p.Trp1434Arg)
|
rs121918789
|
|
NM_001165963.4(SCN1A):c.4302G>A (p.Trp1434Ter)
|
rs794726699
|
|
NM_001165963.4(SCN1A):c.4318G>A (p.Ala1440Thr)
|
rs2105486716
|
|
NM_001165963.4(SCN1A):c.4319C>T (p.Ala1440Val)
|
rs1559122124
|
|
NM_001165963.4(SCN1A):c.4321G>C (p.Ala1441Pro)
|
rs121917974
|
|
NM_001165963.4(SCN1A):c.4324G>T (p.Val1442Phe)
|
rs1690574155
|
|
NM_001165963.4(SCN1A):c.4327G>A (p.Asp1443Asn)
|
rs1573991676
|
|
NM_001165963.4(SCN1A):c.4338+4A>C
|
rs794726734
|
|
NM_001165963.4(SCN1A):c.4338+5G>C
|
rs796053011
|
|
NM_001165963.4(SCN1A):c.4338+616G>A
|
rs1366966423
|
|
NM_001165963.4(SCN1A):c.4338_6030del (p.Asn1446_Gly2008del)
|
|
|
NM_001165963.4(SCN1A):c.4339-21C>G
|
rs1690353601
|
|
NM_001165963.4(SCN1A):c.433A>G (p.Met145Val)
|
rs794726849
|
|
NM_001165963.4(SCN1A):c.4348C>A (p.Gln1450Lys)
|
rs121918806
|
|
NM_001165963.4(SCN1A):c.4349A>G (p.Gln1450Arg)
|
rs121918790
|
|
NM_001165963.4(SCN1A):c.434T>C (p.Met145Thr)
|
rs121918631
|
|
NM_001165963.4(SCN1A):c.434T>G (p.Met145Arg)
|
rs121918631
|
|
NM_001165963.4(SCN1A):c.4351C>A (p.Pro1451Thr)
|
rs794726696
|
|
NM_001165963.4(SCN1A):c.4352C>T (p.Pro1451Leu)
|
rs121917945
|
|
NM_001165963.4(SCN1A):c.4378del (p.Tyr1460fs)
|
rs2105476550
|
|
NM_001165963.4(SCN1A):c.4379A>G (p.Tyr1460Cys)
|
|
|
NM_001165963.4(SCN1A):c.4380T>A (p.Tyr1460Ter)
|
|
|
NM_001165963.4(SCN1A):c.4381C>A (p.Leu1461Ile)
|
rs121918772
|
|
NM_001165963.4(SCN1A):c.4385A>G (p.Tyr1462Cys)
|
rs121917962
|
|
NM_001165963.4(SCN1A):c.4388T>C (p.Phe1463Ser)
|
rs121917946
|
|
NM_001165963.4(SCN1A):c.4396T>C (p.Phe1466Leu)
|
rs2105476313
|
|
NM_001165963.4(SCN1A):c.4408G>T (p.Gly1470Trp)
|
rs121917924
|
|
NM_001165963.4(SCN1A):c.4409G>A (p.Gly1470Glu)
|
rs1573984236
|
|
NM_001165963.4(SCN1A):c.4412C>G (p.Ser1471Cys)
|
|
|
NM_001165963.4(SCN1A):c.4412C>T (p.Ser1471Phe)
|
rs794726809
|
|
NM_001165963.4(SCN1A):c.4418T>C (p.Phe1473Ser)
|
|
|
NM_001165963.4(SCN1A):c.4423T>G (p.Leu1475Val)
|
rs2105476084
|
|
NM_001165963.4(SCN1A):c.4424T>C (p.Leu1475Ser)
|
rs121917947
|
|
NM_001165963.4(SCN1A):c.4427A>C (p.Asn1476Thr)
|
rs2105476040
|
|
NM_001165963.4(SCN1A):c.4428C>A (p.Asn1476Lys)
|
rs1573984110
|
|
NM_001165963.4(SCN1A):c.4428C>G (p.Asn1476Lys)
|
rs1573984110
|
|
NM_001165963.4(SCN1A):c.4444A>C (p.Ile1482Leu)
|
rs794729200
|
|
NM_001165963.4(SCN1A):c.4460A>G (p.Asn1487Ser)
|
|
|
NM_001165963.4(SCN1A):c.4476+1A>G
|
rs796053014
|
|
NM_001165963.4(SCN1A):c.4476G>A (p.Lys1492=)
|
rs1085307730
|
|
NM_001165963.4(SCN1A):c.4477-2A>G
|
rs863225036
|
|
NM_001165963.4(SCN1A):c.4477-3T>A
|
rs1690013843
|
|
NM_001165963.4(SCN1A):c.4511del (p.Gln1504fs)
|
|
|
NM_001165963.4(SCN1A):c.4525A>C (p.Asn1509His)
|
rs1690003122
|
|
NM_001165963.4(SCN1A):c.4539dup (p.Leu1514fs)
|
rs1573973548
|
|
NM_001165963.4(SCN1A):c.4541T>C (p.Leu1514Ser)
|
rs121918764
|
|
NM_001165963.4(SCN1A):c.4547C>A (p.Ser1516Ter)
|
rs139300715
|
|
NM_001165963.4(SCN1A):c.4547C>G (p.Ser1516Trp)
|
rs139300715
|
|
NM_001165963.4(SCN1A):c.4549A>T (p.Lys1517Ter)
|
rs794726835
|
|
NM_001165963.4(SCN1A):c.4554del (p.Lys1518fs)
|
rs794726825
|
|
NM_001165963.4(SCN1A):c.4570C>T (p.Pro1524Ser)
|
rs143088184
|
|
NM_001165963.4(SCN1A):c.4573C>T (p.Arg1525Ter)
|
rs794726752
|
|
NM_001165963.4(SCN1A):c.4581+18A>G
|
rs1689981394
|
|
NM_001165963.4(SCN1A):c.4581+1G>A
|
rs1689986058
|
|
NM_001165963.4(SCN1A):c.4581+5G>C
|
rs1559114303
|
|
NM_001165963.4(SCN1A):c.4582-2A>G
|
rs2105449932
|
|
NM_001165963.4(SCN1A):c.4585A>T (p.Lys1529Ter)
|
|
|
NM_001165963.4(SCN1A):c.4601T>A (p.Val1534Asp)
|
rs2105449751
|
|
NM_001165963.4(SCN1A):c.4611_4645dup (p.Ile1549delinsThrTer)
|
rs794726757
|
|
NM_001165963.4(SCN1A):c.4633A>G (p.Ile1545Val)
|
rs121917975
|
|
NM_001165963.4(SCN1A):c.4704T>A (p.Tyr1568Ter)
|
rs1573963975
|
|
NM_001165963.4(SCN1A):c.4708_4709del (p.Thr1570fs)
|
|
|
NM_001165963.4(SCN1A):c.472G>C (p.Glu158Gln)
|
rs796053090
|
|
NM_001165963.4(SCN1A):c.473+1G>C
|
rs794726840
|
|
NM_001165963.4(SCN1A):c.474-1G>A
|
rs1698962501
|
|
NM_001165963.4(SCN1A):c.474_602del (p.Thr160_Tyr202del)
|
rs1553551314
|
|
NM_001165963.4(SCN1A):c.4752_4753del (p.Thr1585fs)
|
rs2105448260
|
|
NM_001165963.4(SCN1A):c.4757G>A (p.Gly1586Glu)
|
rs121918742
|
|
NM_001165963.4(SCN1A):c.4762T>C (p.Cys1588Arg)
|
rs121917919
|
|
NM_001165963.4(SCN1A):c.4766T>G (p.Val1589Gly)
|
rs764037830
|
|
NM_001165963.4(SCN1A):c.4769T>C (p.Leu1590Pro)
|
|
|
NM_001165963.4(SCN1A):c.4786C>T (p.Arg1596Cys)
|
rs121917993
|
|
NM_001165963.4(SCN1A):c.4787G>A (p.Arg1596His)
|
rs575368466
|
|
NM_001165963.4(SCN1A):c.4789_4792del (p.His1597fs)
|
rs1689680658
|
|
NM_001165963.4(SCN1A):c.479C>A (p.Thr160Asn)
|
rs1698961617
|
|
NM_001165963.4(SCN1A):c.4811G>A (p.Trp1604Ter)
|
rs794726800
|
|
NM_001165963.4(SCN1A):c.4814A>T (p.Asn1605Ile)
|
rs1057519533
|
|
NM_001165963.4(SCN1A):c.4822G>T (p.Asp1608Tyr)
|
rs121917915
|
|
NM_001165963.4(SCN1A):c.4823del (p.Asp1608fs)
|
rs794726785
|
|
NM_001165963.4(SCN1A):c.4829_4830dup (p.Val1611fs)
|
rs794726850
|
|
NM_001165963.4(SCN1A):c.4831G>T (p.Val1611Phe)
|
rs121918630
|
|
NM_001165963.4(SCN1A):c.484A>C (p.Thr162Pro)
|
rs121917934
|
|
NM_001165963.4(SCN1A):c.4852G>A (p.Gly1618Ser)
|
rs2105447216
|
|
NM_001165963.4(SCN1A):c.4853-1G>C
|
rs1553520530
|
|
NM_001165963.4(SCN1A):c.485C>T (p.Thr162Ile)
|
rs1698960532
|
|
NM_001165963.4(SCN1A):c.4862T>C (p.Leu1621Pro)
|
rs1573953706
|
|
NM_001165963.4(SCN1A):c.4876G>C (p.Glu1626Gln)
|
|
|
NM_001165963.4(SCN1A):c.4879_4883dup (p.Tyr1628Ter)
|
rs794726701
|
|
NM_001165963.4(SCN1A):c.4884T>A (p.Tyr1628Ter)
|
|
|
NM_001165963.4(SCN1A):c.4888G>A (p.Val1630Met)
|
rs121917914
|
|
NM_001165963.4(SCN1A):c.4894C>T (p.Pro1632Ser)
|
rs121918755
|
|
NM_001165963.4(SCN1A):c.4901_4920delinsCGTCCGAGTGATTCG (p.Leu1634_Leu1640delinsProSerGluTer)
|
|
|
NM_001165963.4(SCN1A):c.4906C>T (p.Arg1636Ter)
|
rs199727342
|
|
NM_001165963.4(SCN1A):c.4907G>A (p.Arg1636Gln)
|
rs121917995
|
|
NM_001165963.4(SCN1A):c.4907G>C (p.Arg1636Pro)
|
|
|
NM_001165963.4(SCN1A):c.4915C>G (p.Arg1639Gly)
|
rs1573953030
|
|
NM_001165963.4(SCN1A):c.4933C>T (p.Arg1645Ter)
|
rs794726759
|
|
NM_001165963.4(SCN1A):c.4934G>A (p.Arg1645Gln)
|
rs121917976
|
|
NM_001165963.4(SCN1A):c.4934G>C (p.Arg1645Pro)
|
rs121917976
|
|
NM_001165963.4(SCN1A):c.493T>C (p.Tyr165His)
|
rs1553551493
|
|
NM_001165963.4(SCN1A):c.4942C>T (p.Arg1648Cys)
|
rs121918791
|
|
NM_001165963.4(SCN1A):c.4943G>A (p.Arg1648His)
|
rs121918622
|
|
NM_001165963.4(SCN1A):c.4972A>C (p.Thr1658Pro)
|
rs1064794766
|
|
NM_001165963.4(SCN1A):c.4972_4973delinsTA (p.Thr1658Ter)
|
|
|
NM_001165963.4(SCN1A):c.4973C>G (p.Thr1658Arg)
|
rs121917922
|
|
NM_001165963.4(SCN1A):c.4973C>T (p.Thr1658Met)
|
rs121917922
|
|
NM_001165963.4(SCN1A):c.4982T>C (p.Phe1661Ser)
|
rs121918797
|
|
NM_001165963.4(SCN1A):c.4985C>T (p.Ala1662Val)
|
rs794726839
|
|
NM_001165963.4(SCN1A):c.4991T>A (p.Met1664Lys)
|
rs121918765
|
|
NM_001165963.4(SCN1A):c.4993_4996dup (p.Ser1666fs)
|
rs794726819
|
|
NM_001165963.4(SCN1A):c.4997C>T (p.Ser1666Phe)
|
rs794726760
|
|
NM_001165963.4(SCN1A):c.5002C>G (p.Pro1668Ala)
|
rs121917948
|
|
NM_001165963.4(SCN1A):c.5003C>G (p.Pro1668Arg)
|
rs794726698
|
|
NM_001165963.4(SCN1A):c.5003C>T (p.Pro1668Leu)
|
|
|
NM_001165963.4(SCN1A):c.5003del (p.Pro1668fs)
|
rs794726758
|
|
NM_001165963.4(SCN1A):c.5006C>A (p.Ala1669Glu)
|
rs397514458
|
|
NM_001165963.4(SCN1A):c.5010_5013del (p.Phe1671fs)
|
rs794726754
|
|
NM_001165963.4(SCN1A):c.5014A>C (p.Asn1672His)
|
rs794726740
|
|
NM_001165963.4(SCN1A):c.5020G>C (p.Gly1674Arg)
|
rs121918792
|
|
NM_001165963.4(SCN1A):c.5054C>A (p.Ala1685Asp)
|
rs121918744
|
|
NM_001165963.4(SCN1A):c.505T>C (p.Ser169Pro)
|
rs796052957
|
|
NM_001165963.4(SCN1A):c.5063G>T (p.Gly1688Val)
|
rs794726851
|
|
NM_001165963.4(SCN1A):c.5066T>C (p.Met1689Thr)
|
|
|
NM_001165963.4(SCN1A):c.5075T>C (p.Phe1692Ser)
|
rs121918778
|
|
NM_001165963.4(SCN1A):c.5081A>G (p.Tyr1694Cys)
|
rs121918777
|
|
NM_001165963.4(SCN1A):c.5082T>G (p.Tyr1694Ter)
|
rs794726748
|
|
NM_001165963.4(SCN1A):c.5087del (p.Lys1696fs)
|
rs1689309551
|
|
NM_001165963.4(SCN1A):c.5106T>A (p.Asp1702Glu)
|
rs794726804
|
|
NM_001165963.4(SCN1A):c.5108A>T (p.Asp1703Val)
|
rs794726802
|
|
NM_001165963.4(SCN1A):c.5119T>G (p.Phe1707Val)
|
rs121917977
|
|
NM_001165963.4(SCN1A):c.5126C>T (p.Thr1709Ile)
|
rs121918629
|
|
NM_001165963.4(SCN1A):c.512T>A (p.Ile171Lys)
|
rs121918766
|
|
NM_001165963.4(SCN1A):c.5138G>A (p.Ser1713Asn)
|
rs121918816
|
|
NM_001165963.4(SCN1A):c.5141T>C (p.Met1714Thr)
|
rs121917949
|
|
NM_001165963.4(SCN1A):c.5141T>G (p.Met1714Arg)
|
rs121917949
|
|
NM_001165963.4(SCN1A):c.5146T>C (p.Cys1716Arg)
|
rs121917926
|
|
NM_001165963.4(SCN1A):c.5158A>G (p.Ile1720Val)
|
|
|
NM_001165963.4(SCN1A):c.5162C>G (p.Thr1721Arg)
|
rs121917978
|
|
NM_001165963.4(SCN1A):c.5173G>A (p.Gly1725Ser)
|
rs1689280236
|
|
NM_001165963.4(SCN1A):c.5176T>C (p.Trp1726Arg)
|
rs121917979
|
|
NM_001165963.4(SCN1A):c.5177G>A (p.Trp1726Ter)
|
|
|
NM_001165963.4(SCN1A):c.5180A>G (p.Asp1727Gly)
|
rs1689278062
|
|
NM_001165963.4(SCN1A):c.5217del (p.Asp1740fs)
|
rs1573949198
|
|
NM_001165963.4(SCN1A):c.5222G>A (p.Cys1741Tyr)
|
rs794726763
|
|
NM_001165963.4(SCN1A):c.523G>A (p.Ala175Thr)
|
rs121918767
|
|
NM_001165963.4(SCN1A):c.5246G>A (p.Gly1749Glu)
|
rs121918798
|
|
NM_001165963.4(SCN1A):c.5249del (p.Ser1750fs)
|
rs2105430494
|
|
NM_001165963.4(SCN1A):c.5250_5251insGG (p.Ser1751fs)
|
rs794726702
|
|
NM_001165963.4(SCN1A):c.5250_5252del (p.Ser1750_Ser1751delinsArg)
|
rs794726703
|
|
NM_001165963.4(SCN1A):c.5261G>A (p.Gly1754Glu)
|
rs796053036
|
|
NM_001165963.4(SCN1A):c.5263G>A (p.Asp1755Asn)
|
|
|
NM_001165963.4(SCN1A):c.5264A>G (p.Asp1755Gly)
|
rs794726722
|
|
NM_001165963.4(SCN1A):c.5266T>G (p.Cys1756Gly)
|
rs121918809
|
|
NM_001165963.4(SCN1A):c.5273_5277delinsT (p.Asn1758fs)
|
|
|
NM_001165963.4(SCN1A):c.5284_5291dup (p.Phe1764fs)
|
rs794726814
|
|
NM_001165963.4(SCN1A):c.5285G>A (p.Gly1762Glu)
|
rs121917950
|
|
NM_001165963.4(SCN1A):c.5294T>C (p.Phe1765Ser)
|
|
|
NM_001165963.4(SCN1A):c.5297_5298del (p.Phe1766fs)
|
rs794726832
|
|
NM_001165963.4(SCN1A):c.5300T>A (p.Val1767Asp)
|
rs2105429648
|
|
NM_001165963.4(SCN1A):c.5308A>T (p.Ile1770Phe)
|
rs1573947939
|
|
NM_001165963.4(SCN1A):c.530G>A (p.Gly177Glu)
|
rs121918770
|
|
NM_001165963.4(SCN1A):c.530G>T (p.Gly177Val)
|
rs121918770
|
|
NM_001165963.4(SCN1A):c.5318C>T (p.Ser1773Phe)
|
rs121917951
|
|
NM_001165963.4(SCN1A):c.5334del (p.Asn1779fs)
|
rs794726783
|
|
NM_001165963.4(SCN1A):c.5339T>C (p.Met1780Thr)
|
rs121917952
|
|
NM_001165963.4(SCN1A):c.5342A>G (p.Tyr1781Cys)
|
rs121918779
|
|
NM_001165963.4(SCN1A):c.5343del (p.Met1780_Tyr1781insTer)
|
rs1689241423
|
|
NM_001165963.4(SCN1A):c.5346C>G (p.Ile1782Met)
|
rs121918763
|
|
NM_001165963.4(SCN1A):c.5347G>A (p.Ala1783Thr)
|
rs121917980
|
|
NM_001165963.4(SCN1A):c.5348C>T (p.Ala1783Val)
|
rs121917921
|
|
NM_001165963.4(SCN1A):c.5349_5352dup (p.Ile1785fs)
|
rs794726741
|
|
NM_001165963.4(SCN1A):c.5351T>A (p.Val1784Asp)
|
rs1057518671
|
|
NM_001165963.4(SCN1A):c.5351T>C (p.Val1784Ala)
|
rs1057518671
|
|
NM_001165963.4(SCN1A):c.5359G>A (p.Glu1787Lys)
|
rs121917916
|
|
NM_001165963.4(SCN1A):c.5383G>A (p.Glu1795Lys)
|
rs121918813
|
|
NM_001165963.4(SCN1A):c.539T>A (p.Leu180Ter)
|
rs1574281711
|
|
NM_001165963.4(SCN1A):c.5404G>T (p.Glu1802Ter)
|
rs794726780
|
|
NM_001165963.4(SCN1A):c.5422T>C (p.Phe1808Leu)
|
rs121918757
|
|
NM_001165963.4(SCN1A):c.542A>G (p.Glu181Gly)
|
rs1559245947
|
|
NM_001165963.4(SCN1A):c.5434T>G (p.Trp1812Gly)
|
rs121918751
|
|
NM_001165963.4(SCN1A):c.5436G>A (p.Trp1812Ter)
|
rs863225037
|
|
NM_001165963.4(SCN1A):c.5455G>T (p.Ala1819Ser)
|
|
|
NM_001165963.4(SCN1A):c.5461C>T (p.Gln1821Ter)
|
rs794726781
|
|
NM_001165963.4(SCN1A):c.5468T>C (p.Met1823Thr)
|
rs1559101839
|
|
NM_001165963.4(SCN1A):c.5470G>T (p.Glu1824Ter)
|
rs794726769
|
|
NM_001165963.4(SCN1A):c.5488C>T (p.Gln1830Ter)
|
rs1553520103
|
|
NM_001165963.4(SCN1A):c.5489dup (p.Phe1831fs)
|
rs1573945872
|
|
NM_001165963.4(SCN1A):c.5492T>C (p.Phe1831Ser)
|
rs121918748
|
|
NM_001165963.4(SCN1A):c.5501C>T (p.Ala1834Val)
|
rs780809852
|
|
NM_001165963.4(SCN1A):c.550A>T (p.Thr184Ser)
|
rs368798811
|
|
NM_001165963.4(SCN1A):c.5515C>G (p.Leu1839Val)
|
rs794726801
|
|
NM_001165963.4(SCN1A):c.5536A>T (p.Lys1846Ter)
|
rs372098964
|
|
NM_001165963.4(SCN1A):c.5536_5539del (p.Lys1846fs)
|
rs794726726
|
|
NM_001165963.4(SCN1A):c.5540_5543dup (p.Gln1848fs)
|
rs2105426446
|
|
NM_001165963.4(SCN1A):c.5546T>C (p.Leu1849Pro)
|
rs1689186812
|
|
NM_001165963.4(SCN1A):c.5555T>C (p.Met1852Thr)
|
rs121918783
|
|
NM_001165963.4(SCN1A):c.5564C>A (p.Pro1855His)
|
|
|
NM_001165963.4(SCN1A):c.5599_5605del (p.Ile1867fs)
|
rs2105425501
|
|
NM_001165963.4(SCN1A):c.5611_5617del (p.Phe1871fs)
|
|
|
NM_001165963.4(SCN1A):c.5643G>C (p.Glu1881Asp)
|
rs121918804
|
|
NM_001165963.4(SCN1A):c.5656C>T (p.Arg1886Ter)
|
rs779614747
|
|
NM_001165963.4(SCN1A):c.5662C>T (p.Gln1888Ter)
|
rs794726845
|
|
NM_001165963.4(SCN1A):c.5674C>T (p.Arg1892Ter)
|
rs794726739
|
|
NM_001165963.4(SCN1A):c.5681T>C (p.Met1894Thr)
|
rs562208324
|
|
NM_001165963.4(SCN1A):c.568T>C (p.Trp190Arg)
|
rs121918773
|
|
NM_001165963.4(SCN1A):c.571A>T (p.Asn191Tyr)
|
rs121918762
|
|
NM_001165963.4(SCN1A):c.5726C>T (p.Thr1909Ile)
|
rs121918793
|
|
NM_001165963.4(SCN1A):c.5765T>C (p.Ile1922Thr)
|
rs121917981
|
|
NM_001165963.4(SCN1A):c.5768A>C (p.Gln1923Pro)
|
rs1689139851
|
|
NM_001165963.4(SCN1A):c.5780G>C (p.Arg1927Thr)
|
rs794726737
|
|
NM_001165963.4(SCN1A):c.580G>A (p.Asp194Asn)
|
rs121917935
|
|
NM_001165963.4(SCN1A):c.5822C>A (p.Thr1941Lys)
|
rs756845310
|
|
NM_001165963.4(SCN1A):c.591del (p.Ile198fs)
|
rs1698941202
|
|
NM_001165963.4(SCN1A):c.596C>G (p.Thr199Arg)
|
rs121917983
|
|
NM_001165963.4(SCN1A):c.602+1G>A
|
|
|
NM_001165963.4(SCN1A):c.602+1G>T
|
rs794726827
|
|
NM_001165963.4(SCN1A):c.602+3A>C
|
rs794726833
|
|
NM_001165963.4(SCN1A):c.602+6_602+7dup
|
rs577627288
|
|
NM_001165963.4(SCN1A):c.603-2A>G
|
rs1057519531
|
|
NM_001165963.4(SCN1A):c.603-3C>G
|
|
|
NM_001165963.4(SCN1A):c.606C>A (p.Tyr202Ter)
|
rs374555589
|
|
NM_001165963.4(SCN1A):c.629G>A (p.Gly210Asp)
|
rs1698747852
|
|
NM_001165963.4(SCN1A):c.635T>C (p.Val212Ala)
|
rs551068385
|
|
NM_001165963.4(SCN1A):c.650C>A (p.Thr217Lys)
|
rs121917936
|
|
NM_001165963.4(SCN1A):c.657_658del (p.Arg219fs)
|
rs1574272192
|
|
NM_001165963.4(SCN1A):c.659_662del (p.Val220fs)
|
rs794726724
|
|
NM_001165963.4(SCN1A):c.662T>C (p.Leu221Pro)
|
rs796052961
|
|
NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter)
|
rs121918624
|
|
NM_001165963.4(SCN1A):c.675G>C (p.Lys225Asn)
|
rs794726719
|
|
NM_001165963.4(SCN1A):c.677C>T (p.Thr226Met)
|
rs121917984
|
|
NM_001165963.4(SCN1A):c.680T>G (p.Ile227Ser)
|
rs121917937
|
|
NM_001165963.4(SCN1A):c.682T>C (p.Ser228Pro)
|
rs1057519530
|
|
NM_001165963.4(SCN1A):c.683C>T (p.Ser228Leu)
|
rs1574271644
|
|
NM_001165963.4(SCN1A):c.684del (p.Val229fs)
|
rs1574271602
|
|
NM_001165963.4(SCN1A):c.689_690insG (p.Ile230fs)
|
rs1698732089
|
|
NM_001165963.4(SCN1A):c.694+5G>C
|
rs727504142
|
|
NM_001165963.4(SCN1A):c.70G>A (p.Ala24Thr)
|
rs794726848
|
|
NM_001165963.4(SCN1A):c.715G>A (p.Ala239Thr)
|
rs121917985
|
|
NM_001165963.4(SCN1A):c.716C>T (p.Ala239Val)
|
rs121917909
|
|
NM_001165963.4(SCN1A):c.728C>A (p.Ser243Tyr)
|
rs794726755
|
|
NM_001165963.4(SCN1A):c.747T>G (p.Asp249Glu)
|
rs773407463
|
|
NM_001165963.4(SCN1A):c.751del (p.Val250_Met251insTer)
|
rs794726751
|
|
NM_001165963.4(SCN1A):c.755T>A (p.Ile252Asn)
|
rs121918780
|
|
NM_001165963.4(SCN1A):c.758T>C (p.Leu253Pro)
|
rs2105890296
|
|
NM_001165963.4(SCN1A):c.761C>T (p.Thr254Ile)
|
|
|
NM_001165963.4(SCN1A):c.769T>C (p.Cys257Arg)
|
rs794726771
|
|
NM_001165963.4(SCN1A):c.777C>A (p.Ser259Arg)
|
rs121918735
|
|
NM_001165963.4(SCN1A):c.793G>C (p.Gly265Arg)
|
|
|
NM_001165963.4(SCN1A):c.793G>T (p.Gly265Trp)
|
rs121918749
|
|
NM_001165963.4(SCN1A):c.811G>A (p.Gly271Ser)
|
rs2105889878
|
|
NM_001165963.4(SCN1A):c.812G>T (p.Gly271Val)
|
rs2105889854
|
|
NM_001165963.4(SCN1A):c.825_826insGTATA (p.Lys276delinsValTer)
|
rs794726812
|
|
NM_001165963.4(SCN1A):c.826A>C (p.Lys276Gln)
|
rs794726847
|
|
NM_001165963.4(SCN1A):c.830G>A (p.Cys277Tyr)
|
rs1574264920
|
|
NM_001165963.4(SCN1A):c.835C>T (p.Gln279Ter)
|
|
|
NM_001165963.4(SCN1A):c.838T>C (p.Trp280Arg)
|
rs121917938
|
|
NM_001165963.4(SCN1A):c.839G>A (p.Trp280Ter)
|
rs1698593264
|
|
NM_001165963.4(SCN1A):c.896_905del (p.Asn299fs)
|
rs794726788
|
|
NM_001165963.4(SCN1A):c.930_931dup (p.Glu311fs)
|
rs794726846
|
|
NM_001165963.4(SCN1A):c.939del (p.Trp314fs)
|
|
|
NM_001165963.4(SCN1A):c.942G>T (p.Trp314Cys)
|
rs1553549471
|
|
NM_001165963.4(SCN1A):c.947C>A (p.Ser316Ter)
|
|
|
NM_001165963.4(SCN1A):c.964+14T>G
|
rs794726837
|
|
NM_001165963.4(SCN1A):c.965-1G>A
|
rs794726824
|
|
NM_001165963.4(SCN1A):c.965-2A>G
|
|
|
NM_001165963.4(SCN1A):c.965G>T (p.Arg322Ile)
|
rs121917928
|
|
NM_001165963.4(SCN1A):c.985G>T (p.Gly329Cys)
|
rs781746113
|
|
NM_001165963.4(SCN1A):c.986G>C (p.Gly329Ala)
|
rs779184118
|
|
NM_001165963.4(SCN1A):c.986G>T (p.Gly329Val)
|
rs779184118
|
|
NM_001165963.4(SCN1A):c.992dup (p.Leu331fs)
|
rs863225038
|
|
NM_001330723.2(SNX27):c.1005T>C (p.Asn335=)
|
|
|
NM_001330723.2(SNX27):c.103G>A (p.Gly35Ser)
|
|
|
NM_001330723.2(SNX27):c.1041A>G (p.Thr347=)
|
rs113299731
|
|
NM_001330723.2(SNX27):c.1048G>A (p.Val350Met)
|
rs947126545
|
|
NM_001330723.2(SNX27):c.1063T>C (p.Leu355=)
|
|
|
NM_001330723.2(SNX27):c.1067C>A (p.Thr356Asn)
|
rs1670315660
|
|
NM_001330723.2(SNX27):c.106_120del (p.Gly36_Gly40del)
|
rs752177295
|
|
NM_001330723.2(SNX27):c.1072C>T (p.Arg358Ter)
|
|
|
NM_001330723.2(SNX27):c.1075A>G (p.Lys359Glu)
|
rs2102695473
|
|
NM_001330723.2(SNX27):c.1092A>G (p.Thr364=)
|
rs924761544
|
|
NM_001330723.2(SNX27):c.1096G>A (p.Glu366Lys)
|
|
|
NM_001330723.2(SNX27):c.1107C>T (p.Leu369=)
|
rs2102695552
|
|
NM_001330723.2(SNX27):c.1119T>C (p.Asn373=)
|
|
|
NM_001330723.2(SNX27):c.1122C>T (p.Asp374=)
|
rs1158496817
|
|
NM_001330723.2(SNX27):c.1128T>C (p.Ala376=)
|
rs1670318904
|
|
NM_001330723.2(SNX27):c.1135T>C (p.Tyr379His)
|
|
|
NM_001330723.2(SNX27):c.1145A>G (p.His382Arg)
|
|
|
NM_001330723.2(SNX27):c.1145A>T (p.His382Leu)
|
|
|
NM_001330723.2(SNX27):c.1149+18_1149+20del
|
|
|
NM_001330723.2(SNX27):c.1149+20T>A
|
|
|
NM_001330723.2(SNX27):c.1150-13G>C
|
|
|
NM_001330723.2(SNX27):c.1150-14T>C
|
|
|
NM_001330723.2(SNX27):c.1164G>T (p.Val388=)
|
|
|
NM_001330723.2(SNX27):c.1167G>A (p.Lys389=)
|
|
|
NM_001330723.2(SNX27):c.1170A>G (p.Lys390=)
|
rs916854524
|
|
NM_001330723.2(SNX27):c.1176C>T (p.Tyr392=)
|
|
|
NM_001330723.2(SNX27):c.1185A>C (p.Ala395=)
|
rs1571868477
|
|
NM_001330723.2(SNX27):c.118G>A (p.Gly40Ser)
|
rs1354158738
|
|
NM_001330723.2(SNX27):c.1209G>A (p.Gln403=)
|
|
|
NM_001330723.2(SNX27):c.120C>T (p.Gly40=)
|
rs1252759717
|
|
NM_001330723.2(SNX27):c.1214T>C (p.Leu405Pro)
|
rs1671055950
|
|
NM_001330723.2(SNX27):c.1215A>G (p.Leu405=)
|
rs1217564237
|
|
NM_001330723.2(SNX27):c.1216T>C (p.Tyr406His)
|
|
|
NM_001330723.2(SNX27):c.1216_1217dup (p.Glu407fs)
|
rs2102724265
|
|
NM_001330723.2(SNX27):c.1218C>G (p.Tyr406Ter)
|
rs201966711
|
|
NM_001330723.2(SNX27):c.1221A>G (p.Glu407=)
|
rs1553264889
|
|
NM_001330723.2(SNX27):c.1227A>G (p.Arg409=)
|
|
|
NM_001330723.2(SNX27):c.1236C>T (p.Val412=)
|
rs1476727417
|
|
NM_001330723.2(SNX27):c.1237A>G (p.Met413Val)
|
rs144336311
|
|
NM_001330723.2(SNX27):c.1237A>T (p.Met413Leu)
|
rs144336311
|
|
NM_001330723.2(SNX27):c.1238T>C (p.Met413Thr)
|
rs2102724392
|
|
NM_001330723.2(SNX27):c.1240-12_1240-11insCTT
|
|
|
NM_001330723.2(SNX27):c.1240-13_1240-12insCT
|
rs768575277
|
|
NM_001330723.2(SNX27):c.1240-13_1240-3del
|
rs61159507
|
|
NM_001330723.2(SNX27):c.1240-14T>C
|
|
|
NM_001330723.2(SNX27):c.1240-14_1240-3del
|
|
|
NM_001330723.2(SNX27):c.1240-15_1240-3del
|
rs61159507
|
|
NM_001330723.2(SNX27):c.1240-16_1240-3del
|
|
|
NM_001330723.2(SNX27):c.1240-17_1240-3del
|
|
|
NM_001330723.2(SNX27):c.1240-18_1240-3del
|
|
|
NM_001330723.2(SNX27):c.1240-19_1240-3del
|
rs61159507
|
|
NM_001330723.2(SNX27):c.1240-3T>C
|
rs1558078080
|
|
NM_001330723.2(SNX27):c.1240-3_1240-2insCTTT
|
rs2102742377
|
|
NM_001330723.2(SNX27):c.1240-3_1240-2insTCTTT
|
rs2102742377
|
|
NM_001330723.2(SNX27):c.1240-3_1240-2insTTA
|
rs71093207
|
|
NM_001330723.2(SNX27):c.1240-3del
|
|
|
NM_001330723.2(SNX27):c.1240-3dup
|
rs61159507
|
|
NM_001330723.2(SNX27):c.1240-4_1240-3del
|
rs61159507
|
|
NM_001330723.2(SNX27):c.1240-4_1240-3insCTT
|
rs2102742370
|
|
NM_001330723.2(SNX27):c.1240-5_1240-4insCT
|
rs1553266104
|
|
NM_001330723.2(SNX27):c.1240-6_1240-5insC
|
rs1398540271
|
|
NM_001330723.2(SNX27):c.1246A>C (p.Asn416His)
|
rs1388451146
|
|
NM_001330723.2(SNX27):c.1246A>G (p.Asn416Asp)
|
rs1388451146
|
|
NM_001330723.2(SNX27):c.1252C>T (p.Leu418=)
|
rs1671498343
|
|
NM_001330723.2(SNX27):c.1278A>T (p.Glu426Asp)
|
rs1671499964
|
|
NM_001330723.2(SNX27):c.1282A>G (p.Ile428Val)
|
rs1228574763
|
|
NM_001330723.2(SNX27):c.1287T>C (p.Phe429=)
|
rs1230597000
|
|
NM_001330723.2(SNX27):c.1289C>T (p.Pro430Leu)
|
rs1671500919
|
|
NM_001330723.2(SNX27):c.1290C>G (p.Pro430=)
|
|
|
NM_001330723.2(SNX27):c.1290C>T (p.Pro430=)
|
rs764241666
|
|
NM_001330723.2(SNX27):c.1291C>T (p.His431Tyr)
|
rs1487640435
|
|
NM_001330723.2(SNX27):c.1299C>G (p.Ala433=)
|
rs1571880748
|
|
NM_001330723.2(SNX27):c.129C>T (p.Val43=)
|
|
|
NM_001330723.2(SNX27):c.130G>C (p.Val44Leu)
|
rs747108673
|
|
NM_001330723.2(SNX27):c.130G>T (p.Val44Leu)
|
rs747108673
|
|
NM_001330723.2(SNX27):c.1310G>C (p.Arg437Thr)
|
rs1558078260
|
|
NM_001330723.2(SNX27):c.1313G>A (p.Arg438Lys)
|
|
|
NM_001330723.2(SNX27):c.1320G>A (p.Gly440=)
|
rs2102742887
|
|
NM_001330723.2(SNX27):c.1350C>T (p.His450=)
|
rs2102742993
|
|
NM_001330723.2(SNX27):c.1356dup (p.Leu453fs)
|
rs1553266166
|
|
NM_001330723.2(SNX27):c.1361A>G (p.His454Arg)
|
rs2102743022
|
|
NM_001330723.2(SNX27):c.1362T>C (p.His454=)
|
|
|
NM_001330723.2(SNX27):c.1389+16A>G
|
|
|
NM_001330723.2(SNX27):c.1390-12T>C
|
|
|
NM_001330723.2(SNX27):c.1390-15G>T
|
|
|
NM_001330723.2(SNX27):c.1390-20C>T
|
|
|
NM_001330723.2(SNX27):c.141C>T (p.Val47=)
|
rs762600291
|
|
NM_001330723.2(SNX27):c.1428A>G (p.Arg476=)
|
rs1257250037
|
|
NM_001330723.2(SNX27):c.1431G>A (p.Trp477Ter)
|
rs574654968
|
|
NM_001330723.2(SNX27):c.1443A>G (p.Glu481=)
|
|
|
NM_001330723.2(SNX27):c.1457T>C (p.Phe486Ser)
|
rs2102743959
|
|
NM_001330723.2(SNX27):c.1474C>T (p.Arg492Ter)
|
|
|
NM_001330723.2(SNX27):c.147C>T (p.Ser49=)
|
rs1571741449
|
|
NM_001330723.2(SNX27):c.1486A>C (p.Lys496Gln)
|
|
|
NM_001330723.2(SNX27):c.1492C>T (p.Arg498Ter)
|
|
|
NM_001330723.2(SNX27):c.1493G>A (p.Arg498Gln)
|
rs1558078709
|
|
NM_001330723.2(SNX27):c.1495T>C (p.Trp499Arg)
|
rs1245623181
|
|
NM_001330723.2(SNX27):c.1495T>G (p.Trp499Gly)
|
rs1245623181
|
|
NM_001330723.2(SNX27):c.14A>C (p.Asp5Ala)
|
rs1667204535
|
|
NM_001330723.2(SNX27):c.1512G>A (p.Thr504=)
|
|
|
NM_001330723.2(SNX27):c.1517A>G (p.Tyr506Cys)
|
rs1553266278
|
|
NM_001330723.2(SNX27):c.1518+10A>G
|
rs745587168
|
|
NM_001330723.2(SNX27):c.1518+13T>C
|
rs2102744187
|
|
NM_001330723.2(SNX27):c.1518+14G>A
|
|
|
NM_001330723.2(SNX27):c.1518+17G>A
|
|
|
NM_001330723.2(SNX27):c.1519-11T>A
|
rs2102745003
|
|
NM_001330723.2(SNX27):c.1519-4dup
|
rs540332829
|
|
NM_001330723.2(SNX27):c.1558G>A (p.Glu520Lys)
|
|
|
NM_001330723.2(SNX27):c.1560G>A (p.Glu520=)
|
|
|
NM_001330723.2(SNX27):c.1574_1575del (p.Lys525fs)
|
|
|
NM_001330723.2(SNX27):c.1578+100G>T
|
|
|
NM_001330723.2(SNX27):c.1578+119_1578+122del
|
rs748138783
|
|
NM_001330723.2(SNX27):c.1578+11A>G
|
rs2102745179
|
|
NM_001330723.2(SNX27):c.1578+12C>T
|
|
|
NM_001330723.2(SNX27):c.1578+94A>G
|
|
|
NM_001330723.2(SNX27):c.15C>G (p.Asp5Glu)
|
rs1375319601
|
|
NM_001330723.2(SNX27):c.15C>T (p.Asp5=)
|
rs1375319601
|
|
NM_001330723.2(SNX27):c.160G>A (p.Gly54Ser)
|
rs1667215975
|
|
NM_001330723.2(SNX27):c.16G>C (p.Gly6Arg)
|
|
|
NM_001330723.2(SNX27):c.174G>C (p.Arg58=)
|
|
|
NM_001330723.2(SNX27):c.179A>C (p.Gln60Pro)
|
rs2102578836
|
|
NM_001330723.2(SNX27):c.17G>A (p.Gly6Glu)
|
rs954308263
|
|
NM_001330723.2(SNX27):c.17G>T (p.Gly6Val)
|
rs954308263
|
|
NM_001330723.2(SNX27):c.19G>A (p.Glu7Lys)
|
rs2102578114
|
|
NM_001330723.2(SNX27):c.1_2insAGGGACATAGTAATTTCCGTTGTTTCATGTTCTAATCTGTATATGGAAGTTTCATTGACAAGCTCATAAAATGGCAGTTCCACACAACTTTGGGAAGCAATAATTTACATTATTAAAATTATCCTGAAAA (p.Met1delinsLysGlyHisSerAsnPheArgCysPheMetPheTer)
|
rs2102578010
|
|
NM_001330723.2(SNX27):c.211A>C (p.Asn71His)
|
rs1225201475
|
|
NM_001330723.2(SNX27):c.213C>G (p.Asn71Lys)
|
rs1341644365
|
|
NM_001330723.2(SNX27):c.217G>A (p.Glu73Lys)
|
|
|
NM_001330723.2(SNX27):c.219G>A (p.Glu73=)
|
|
|
NM_001330723.2(SNX27):c.232C>T (p.Leu78=)
|
|
|
NM_001330723.2(SNX27):c.238C>G (p.His80Asp)
|
rs1571741601
|
|
NM_001330723.2(SNX27):c.239A>T (p.His80Leu)
|
rs753540643
|
|
NM_001330723.2(SNX27):c.247_248delinsTT (p.Ala83Phe)
|
rs2102579047
|
|
NM_001330723.2(SNX27):c.259G>A (p.Gly87Arg)
|
rs750944911
|
|
NM_001330723.2(SNX27):c.259G>T (p.Gly87Trp)
|
rs750944911
|
|
NM_001330723.2(SNX27):c.265dup (p.Ala89fs)
|
rs781657502
|
|
NM_001330723.2(SNX27):c.275G>T (p.Arg92Leu)
|
rs768798077
|
|
NM_001330723.2(SNX27):c.279C>A (p.Ala93=)
|
rs2102579203
|
|
NM_001330723.2(SNX27):c.27T>G (p.Ile9Met)
|
|
|
NM_001330723.2(SNX27):c.292G>A (p.Gly98Arg)
|
rs1667222276
|
|
NM_001330723.2(SNX27):c.298C>A (p.Arg100Ser)
|
rs2102579246
|
|
NM_001330723.2(SNX27):c.304C>T (p.Leu102=)
|
|
|
NM_001330723.2(SNX27):c.306G>C (p.Leu102=)
|
rs2102579271
|
|
NM_001330723.2(SNX27):c.311+11G>A
|
|
|
NM_001330723.2(SNX27):c.311+13G>A
|
|
|
NM_001330723.2(SNX27):c.311+15T>G
|
|
|
NM_001330723.2(SNX27):c.311+20G>A
|
|
|
NM_001330723.2(SNX27):c.311+20G>C
|
|
|
NM_001330723.2(SNX27):c.311+22_311+38dup
|
rs2102579318
|
|
NM_001330723.2(SNX27):c.311+9C>T
|
rs2102579294
|
|
NM_001330723.2(SNX27):c.312-14C>G
|
|
|
NM_001330723.2(SNX27):c.312-16C>G
|
rs2102632909
|
|
NM_001330723.2(SNX27):c.312-9T>C
|
|
|
NM_001330723.2(SNX27):c.317A>C (p.His106Pro)
|
rs1668592005
|
|
NM_001330723.2(SNX27):c.323A>G (p.Asn108Ser)
|
rs1004258589
|
|
NM_001330723.2(SNX27):c.336G>C (p.Ala112=)
|
rs567918235
|
|
NM_001330723.2(SNX27):c.33C>T (p.Pro11=)
|
rs2102578177
|
|
NM_001330723.2(SNX27):c.351G>C (p.Val117=)
|
|
|
NM_001330723.2(SNX27):c.360G>C (p.Leu120=)
|
|
|
NM_001330723.2(SNX27):c.364C>A (p.Arg122=)
|
rs2102633073
|
|
NM_001330723.2(SNX27):c.369A>G (p.Ala123=)
|
|
|
NM_001330723.2(SNX27):c.399A>G (p.Leu133=)
|
rs2102633155
|
|
NM_001330723.2(SNX27):c.40C>A (p.Pro14Thr)
|
rs754474112
|
|
NM_001330723.2(SNX27):c.40C>T (p.Pro14Ser)
|
rs754474112
|
|
NM_001330723.2(SNX27):c.423T>C (p.Asp141=)
|
rs779863100
|
|
NM_001330723.2(SNX27):c.437G>C (p.Ser146Thr)
|
|
|
NM_001330723.2(SNX27):c.446C>T (p.Ser149Leu)
|
|
|
NM_001330723.2(SNX27):c.450G>T (p.Leu150Phe)
|
rs2102633311
|
|
NM_001330723.2(SNX27):c.455A>G (p.Gln152Arg)
|
rs546091137
|
|
NM_001330723.2(SNX27):c.484G>A (p.Ala162Thr)
|
rs2102633390
|
|
NM_001330723.2(SNX27):c.493A>C (p.Ile165Leu)
|
rs1668605133
|
|
NM_001330723.2(SNX27):c.516T>C (p.His172=)
|
|
|
NM_001330723.2(SNX27):c.528T>C (p.Asn176=)
|
rs2102633450
|
|
NM_001330723.2(SNX27):c.543+16A>G
|
|
|
NM_001330723.2(SNX27):c.543+19C>T
|
|
|
NM_001330723.2(SNX27):c.543+20G>A
|
rs369005846
|
|
NM_001330723.2(SNX27):c.543+20G>T
|
|
|
NM_001330723.2(SNX27):c.543+6T>C
|
rs1571793465
|
|
NM_001330723.2(SNX27):c.543+9C>T
|
rs1668607256
|
|
NM_001330723.2(SNX27):c.544-14T>C
|
|
|
NM_001330723.2(SNX27):c.544-5A>G
|
|
|
NM_001330723.2(SNX27):c.548A>G (p.Tyr183Cys)
|
|
|
NM_001330723.2(SNX27):c.552T>C (p.Asn184=)
|
|
|
NM_001330723.2(SNX27):c.563C>G (p.Ala188Gly)
|
rs2102676713
|
|
NM_001330723.2(SNX27):c.56G>A (p.Gly19Asp)
|
rs1181173678
|
|
NM_001330723.2(SNX27):c.573G>A (p.Gln191=)
|
|
|
NM_001330723.2(SNX27):c.575T>A (p.Leu192Gln)
|
rs1208840156
|
|
NM_001330723.2(SNX27):c.595G>C (p.Glu199Gln)
|
rs1176950317
|
|
NM_001330723.2(SNX27):c.597G>A (p.Glu199=)
|
rs2102676780
|
|
NM_001330723.2(SNX27):c.60CGG[5] (p.Gly25dup)
|
rs567208173
|
|
NM_001330723.2(SNX27):c.60CGG[6] (p.Gly24_Gly25dup)
|
rs567208173
|
|
NM_001330723.2(SNX27):c.615G>A (p.Gln205=)
|
|
|
NM_001330723.2(SNX27):c.616A>G (p.Asn206Asp)
|
rs2102676815
|
|
NM_001330723.2(SNX27):c.618C>T (p.Asn206=)
|
|
|
NM_001330723.2(SNX27):c.629_630del (p.Glu210fs)
|
rs1669791515
|
|
NM_001330723.2(SNX27):c.632T>A (p.Phe211Tyr)
|
rs1669791900
|
|
NM_001330723.2(SNX27):c.652C>T (p.Arg218Ter)
|
rs2102676931
|
|
NM_001330723.2(SNX27):c.653G>A (p.Arg218Gln)
|
rs2102676934
|
|
NM_001330723.2(SNX27):c.656T>C (p.Leu219Pro)
|
rs1669792785
|
|
NM_001330723.2(SNX27):c.657C>T (p.Leu219=)
|
|
|
NM_001330723.2(SNX27):c.660A>G (p.Pro220=)
|
rs2102676952
|
|
NM_001330723.2(SNX27):c.6G>T (p.Ala2=)
|
rs2102578028
|
|
NM_001330723.2(SNX27):c.701C>T (p.Ala234Val)
|
|
|
NM_001330723.2(SNX27):c.707G>A (p.Arg236His)
|
rs1669794702
|
|
NM_001330723.2(SNX27):c.70G>A (p.Gly24Arg)
|
rs1054736706
|
|
NM_001330723.2(SNX27):c.70G>C (p.Gly24Arg)
|
|
|
NM_001330723.2(SNX27):c.721G>A (p.Glu241Lys)
|
|
|
NM_001330723.2(SNX27):c.726T>C (p.Tyr242=)
|
|
|
NM_001330723.2(SNX27):c.727C>T (p.Leu243=)
|
|
|
NM_001330723.2(SNX27):c.72G>A (p.Gly24=)
|
rs1293704681
|
|
NM_001330723.2(SNX27):c.737-15_737-10del
|
|
|
NM_001330723.2(SNX27):c.737-4A>G
|
|
|
NM_001330723.2(SNX27):c.73G>T (p.Gly25Trp)
|
rs1558028277
|
|
NM_001330723.2(SNX27):c.752T>G (p.Val251Gly)
|
rs753881769
|
|
NM_001330723.2(SNX27):c.755T>C (p.Ile252Thr)
|
rs1669930051
|
|
NM_001330723.2(SNX27):c.756T>C (p.Ile252=)
|
rs1669930261
|
|
NM_001330723.2(SNX27):c.775C>A (p.Gln259Lys)
|
|
|
NM_001330723.2(SNX27):c.795C>T (p.Ser265=)
|
|
|
NM_001330723.2(SNX27):c.801+19del
|
rs2102681542
|
|
NM_001330723.2(SNX27):c.802-16A>C
|
rs370297492
|
|
NM_001330723.2(SNX27):c.802-16A>G
|
rs370297492
|
|
NM_001330723.2(SNX27):c.802-7C>A
|
rs779668822
|
|
NM_001330723.2(SNX27):c.816G>A (p.Val272=)
|
rs552371418
|
|
NM_001330723.2(SNX27):c.819C>T (p.Ser273=)
|
rs191905305
|
|
NM_001330723.2(SNX27):c.81G>A (p.Gly27=)
|
rs948483473
|
|
NM_001330723.2(SNX27):c.820G>A (p.Asp274Asn)
|
rs749266618
|
|
NM_001330723.2(SNX27):c.828G>C (p.Glu276Asp)
|
rs1669991535
|
|
NM_001330723.2(SNX27):c.838G>A (p.Ala280Thr)
|
|
|
NM_001330723.2(SNX27):c.840A>G (p.Ala280=)
|
|
|
NM_001330723.2(SNX27):c.844_846dup (p.Pro282_Asp283insPro)
|
|
|
NM_001330723.2(SNX27):c.84C>T (p.Leu28=)
|
rs1376598124
|
|
NM_001330723.2(SNX27):c.857C>A (p.Thr286Lys)
|
rs540042464
|
|
NM_001330723.2(SNX27):c.858G>A (p.Thr286=)
|
|
|
NM_001330723.2(SNX27):c.858G>T (p.Thr286=)
|
|
|
NM_001330723.2(SNX27):c.864A>G (p.Thr288=)
|
|
|
NM_001330723.2(SNX27):c.870G>A (p.Arg290=)
|
|
|
NM_001330723.2(SNX27):c.873del (p.Lys293fs)
|
rs1669994959
|
|
NM_001330723.2(SNX27):c.87C>T (p.His29=)
|
|
|
NM_001330723.2(SNX27):c.882C>A (p.Asn294Lys)
|
|
|
NM_001330723.2(SNX27):c.883A>G (p.Ser295Gly)
|
rs754578785
|
|
NM_001330723.2(SNX27):c.88_99del (p.Cys30_Asn33del)
|
rs766981901
|
|
NM_001330723.2(SNX27):c.906+17C>T
|
|
|
NM_001330723.2(SNX27):c.907-16T>C
|
rs369851379
|
|
NM_001330723.2(SNX27):c.907-6C>T
|
|
|
NM_001330723.2(SNX27):c.908C>G (p.Ala303Gly)
|
|
|
NM_001330723.2(SNX27):c.908C>T (p.Ala303Val)
|
rs751034029
|
|
NM_001330723.2(SNX27):c.913G>T (p.Ala305Ser)
|
rs778236794
|
|
NM_001330723.2(SNX27):c.921G>C (p.Lys307Asn)
|
rs1670171559
|
|
NM_001330723.2(SNX27):c.92C>T (p.Ala31Val)
|
rs1667211203
|
|
NM_001330723.2(SNX27):c.933C>T (p.Asp311=)
|
|
|
NM_001330723.2(SNX27):c.93C>T (p.Ala31=)
|
|
|
NM_001330723.2(SNX27):c.942A>G (p.Thr314=)
|
rs1553261783
|
|
NM_001330723.2(SNX27):c.954T>C (p.Phe318=)
|
|
|
NM_001330723.2(SNX27):c.975T>C (p.Ser325=)
|
|
|
NM_001330723.2(SNX27):c.977dup (p.His326fs)
|
rs2102690228
|
|
NM_001330723.2(SNX27):c.980C>T (p.Ser327Phe)
|
rs1571844623
|
|
NM_001330723.2(SNX27):c.981C>T (p.Ser327=)
|
|
|
NM_001330723.2(SNX27):c.985+15C>G
|
|
|
NM_001330723.2(SNX27):c.985+8C>T
|
rs1370392842
|
|
NM_001330723.2(SNX27):c.986-13G>A
|
|
|
NM_001330723.2(SNX27):c.986-13_986-12del
|
rs2102695222
|
|
NM_001330723.2(SNX27):c.986-3T>C
|
|
|
NM_001330723.2(SNX27):c.988C>T (p.Arg330Cys)
|
|
|
NM_001330723.2(SNX27):c.997G>C (p.Ala333Pro)
|
|
|
NM_001330723.2(SNX27):c.99C>T (p.Asn33=)
|
rs1667211610
|
|
NM_001365536.1(SCN9A):c.*1605_*1606del
|
rs200091138
|
|
NM_001365536.1(SCN9A):c.*165_*167dup
|
rs886055049
|
|
NM_001365536.1(SCN9A):c.*1960_*1962dup
|
rs202073550
|
|
NM_001365536.1(SCN9A):c.*2616_*2626del
|
rs145255931
|
|
NM_001365536.1(SCN9A):c.*491del
|
rs886055047
|
|
NM_001365536.1(SCN9A):c.*798dup
|
rs564394161
|
|
NM_001365536.1(SCN9A):c.1079A>G (p.Gln360Arg)
|
rs1698156445
|
|
NM_001365536.1(SCN9A):c.1975-3del
|
rs35888674
|
|
NM_001365536.1(SCN9A):c.1975-3dup
|
rs35888674
|
|
NM_001365536.1(SCN9A):c.4368C>G (p.Ile1456Met)
|
rs1362318488
|
|
NM_001365536.1(SCN9A):c.4434GAA[1] (p.Lys1480del)
|
rs886055050
|
|
NM_001365536.1(SCN9A):c.4482A>G (p.Gln1494=)
|
rs1558945594
|
|
NM_001365536.1(SCN9A):c.5820C>G (p.Asn1940Lys)
|
rs371454107
|
|
NM_006920.4(SCN1A):c.384_473del (p.Leu129_Glu158del)
|
|
|
NM_198904.4(GABRG2):c.-4del
|
rs771282908
|
|
NM_198904.4(GABRG2):c.-4dup
|
rs771282908
|
|