NM_001278116.2(L1CAM):c.2209-6C>T
|
rs7885771
|
0.05725
|
NM_001278116.2(L1CAM):c.1268-10C>T
|
rs112841948
|
0.03467
|
NM_001278116.2(L1CAM):c.855C>T (p.Ala285=)
|
rs1042512
|
0.03189
|
NM_001278116.2(L1CAM):c.197+17G>A
|
rs5987174
|
0.02545
|
NM_001278116.2(L1CAM):c.2307C>T (p.Ser769=)
|
rs5987173
|
0.01697
|
NM_001278116.2(L1CAM):c.1704-14C>T
|
rs140240430
|
0.01472
|
NM_001278116.2(L1CAM):c.2872C>G (p.Leu958Val)
|
rs35902890
|
0.01086
|
NM_001278116.2(L1CAM):c.720G>A (p.Pro240=)
|
rs35151382
|
0.01040
|
NM_001278116.2(L1CAM):c.28C>T (p.Pro10Ser)
|
rs144605615
|
0.00970
|
NM_001278116.2(L1CAM):c.1977T>C (p.Pro659=)
|
rs143382184
|
0.00854
|
NM_001278116.2(L1CAM):c.1002C>T (p.Tyr334=)
|
rs73640833
|
0.00445
|
NM_001278116.2(L1CAM):c.3081G>A (p.Ala1027=)
|
rs139393266
|
0.00285
|
NM_001278116.2(L1CAM):c.3519C>T (p.Phe1173=)
|
rs142277193
|
0.00188
|
NM_001278116.2(L1CAM):c.36C>A (p.Leu12=)
|
rs140678848
|
0.00180
|
NM_001278116.2(L1CAM):c.2302G>A (p.Val768Ile)
|
rs36021462
|
0.00178
|
NM_001278116.2(L1CAM):c.396C>T (p.Ala132=)
|
rs144708625
|
0.00131
|
NM_001278116.2(L1CAM):c.3530+8G>A
|
rs200870843
|
0.00095
|
NM_001278116.2(L1CAM):c.3672G>A (p.Ser1224=)
|
rs146526273
|
0.00054
|
NM_001278116.2(L1CAM):c.2697C>T (p.Asn899=)
|
rs139178593
|
0.00052
|
NM_001278116.2(L1CAM):c.964C>T (p.Arg322Trp)
|
rs144692079
|
0.00048
|
NM_001278116.2(L1CAM):c.3441G>A (p.Lys1147=)
|
rs199661695
|
0.00037
|
NM_001278116.2(L1CAM):c.806+18G>A
|
rs200497143
|
0.00037
|
NM_001278116.2(L1CAM):c.2211G>A (p.Pro737=)
|
rs146782397
|
0.00035
|
NM_001278116.2(L1CAM):c.2657G>A (p.Arg886Gln)
|
rs142603269
|
0.00032
|
NM_001278116.2(L1CAM):c.2583C>G (p.His861Gln)
|
rs185418119
|
0.00031
|
NM_001278116.2(L1CAM):c.630C>T (p.His210=)
|
rs28933683
|
0.00031
|
NM_001278116.2(L1CAM):c.1547-4T>A
|
rs200148275
|
0.00030
|
NM_001278116.2(L1CAM):c.3192G>T (p.Ser1064=)
|
rs142563956
|
0.00028
|
NM_001278116.2(L1CAM):c.984C>T (p.Thr328=)
|
rs200638763
|
0.00028
|
NM_001278116.2(L1CAM):c.113C>T (p.Thr38Met)
|
rs201151358
|
0.00027
|
NM_001278116.2(L1CAM):c.963C>T (p.Ala321=)
|
rs145823218
|
0.00021
|
NM_001278116.2(L1CAM):c.2749+18C>T
|
rs201341092
|
0.00019
|
NM_001278116.2(L1CAM):c.1547-18C>T
|
rs200876938
|
0.00018
|
NM_001278116.2(L1CAM):c.2274G>A (p.Gly758=)
|
rs2071643
|
0.00017
|
NM_001278116.2(L1CAM):c.256G>A (p.Val86Met)
|
rs149309725
|
0.00017
|
NM_001278116.2(L1CAM):c.3327C>T (p.Arg1109=)
|
rs150419364
|
0.00017
|
NM_001278116.2(L1CAM):c.1329T>G (p.Thr443=)
|
rs782415528
|
0.00016
|
NM_001278116.2(L1CAM):c.1722G>A (p.Gly574=)
|
rs2857756
|
0.00014
|
NM_001278116.2(L1CAM):c.294G>A (p.Thr98=)
|
rs4898371
|
0.00014
|
NM_001278116.2(L1CAM):c.649A>C (p.Arg217=)
|
rs201204893
|
0.00014
|
NM_001278116.2(L1CAM):c.2853C>T (p.Tyr951=)
|
rs148187017
|
0.00013
|
NM_001278116.2(L1CAM):c.3322+7C>G
|
rs200954919
|
0.00013
|
NM_001278116.2(L1CAM):c.999G>T (p.Pro333=)
|
rs200201490
|
0.00013
|
NM_001278116.2(L1CAM):c.3057T>G (p.Asp1019Glu)
|
rs200815347
|
0.00012
|
NM_001278116.2(L1CAM):c.524-20G>A
|
rs188071191
|
0.00012
|
NM_001278116.2(L1CAM):c.1993C>G (p.Leu665Val)
|
rs199592861
|
0.00010
|
NM_001278116.2(L1CAM):c.1293G>A (p.Ala431=)
|
rs137967792
|
0.00009
|
NM_001278116.2(L1CAM):c.1547-14C>T
|
rs145192924
|
0.00009
|
NM_001278116.2(L1CAM):c.2232C>T (p.Asn744=)
|
rs201081454
|
0.00009
|
NM_001278116.2(L1CAM):c.2537G>T (p.Arg846Leu)
|
rs149737236
|
0.00009
|
NM_001278116.2(L1CAM):c.3735G>A (p.Gly1245=)
|
rs200206375
|
0.00009
|
NM_001278116.2(L1CAM):c.1759G>C (p.Gly587Arg)
|
rs199888009
|
0.00008
|
NM_001278116.2(L1CAM):c.1863C>T (p.Ser621=)
|
rs782026679
|
0.00008
|
NM_001278116.2(L1CAM):c.3542+13C>T
|
rs782760565
|
0.00008
|
NM_001278116.2(L1CAM):c.3642C>T (p.Ser1214=)
|
rs782341083
|
0.00008
|
NM_001278116.2(L1CAM):c.3710C>T (p.Ala1237Val)
|
rs370546591
|
0.00008
|
NM_001278116.2(L1CAM):c.523+13G>A
|
rs201766114
|
0.00008
|
NM_001278116.2(L1CAM):c.1124-6_1124-3dup
|
rs782713149
|
0.00007
|
NM_001278116.2(L1CAM):c.1476C>T (p.Thr492=)
|
rs150805225
|
0.00007
|
NM_001278116.2(L1CAM):c.1703+10G>C
|
rs781848372
|
0.00007
|
NM_001278116.2(L1CAM):c.2106G>A (p.Pro702=)
|
rs200561489
|
0.00007
|
NM_001278116.2(L1CAM):c.232C>T (p.Pro78Ser)
|
rs144542429
|
0.00007
|
NM_001278116.2(L1CAM):c.618C>A (p.Asp206Glu)
|
rs201474883
|
0.00007
|
NM_001278116.2(L1CAM):c.1107C>T (p.Asn369=)
|
rs200768501
|
0.00006
|
NM_001278116.2(L1CAM):c.1703+14C>T
|
rs201072258
|
0.00006
|
NM_001278116.2(L1CAM):c.2091C>T (p.Pro697=)
|
rs147917724
|
0.00006
|
NM_001278116.2(L1CAM):c.2552C>T (p.Thr851Met)
|
rs782419777
|
0.00006
|
NM_001278116.2(L1CAM):c.2721C>T (p.Ser907=)
|
rs200799618
|
0.00006
|
NM_001278116.2(L1CAM):c.992-3C>T
|
rs201734187
|
0.00006
|
NM_001278116.2(L1CAM):c.99G>C (p.Glu33Asp)
|
rs201990980
|
0.00006
|
NM_001278116.2(L1CAM):c.1851G>A (p.Arg617=)
|
rs149252900
|
0.00005
|
NM_001278116.2(L1CAM):c.2065G>A (p.Val689Ile)
|
rs782746537
|
0.00005
|
NM_001278116.2(L1CAM):c.2872+9G>A
|
rs398123363
|
0.00005
|
NM_001278116.2(L1CAM):c.400+9C>T
|
rs201057718
|
0.00005
|
NM_001278116.2(L1CAM):c.436G>A (p.Val146Met)
|
rs199796566
|
0.00005
|
NM_001278116.2(L1CAM):c.798C>T (p.Ala266=)
|
rs111597352
|
0.00005
|
NM_001278116.2(L1CAM):c.1220G>A (p.Arg407His)
|
rs139197516
|
0.00004
|
NM_001278116.2(L1CAM):c.1386C>T (p.Asp462=)
|
rs200209432
|
0.00004
|
NM_001278116.2(L1CAM):c.1704-5C>T
|
rs200415748
|
0.00004
|
NM_001278116.2(L1CAM):c.1786G>A (p.Glu596Lys)
|
rs137940405
|
0.00004
|
NM_001278116.2(L1CAM):c.2370C>T (p.Ala790=)
|
rs145717130
|
0.00004
|
NM_001278116.2(L1CAM):c.3016G>A (p.Val1006Ile)
|
rs201128366
|
0.00004
|
NM_001278116.2(L1CAM):c.3099C>T (p.Val1033=)
|
rs782495914
|
0.00004
|
NM_001278116.2(L1CAM):c.3178G>A (p.Gly1060Arg)
|
rs202064643
|
0.00004
|
NM_001278116.2(L1CAM):c.338G>A (p.Arg113His)
|
rs781908326
|
0.00004
|
NM_001278116.2(L1CAM):c.3531-13C>T
|
rs372190403
|
0.00004
|
NM_001278116.2(L1CAM):c.3542+14G>A
|
rs782488294
|
0.00004
|
NM_001278116.2(L1CAM):c.367G>A (p.Ala123Thr)
|
rs782752037
|
0.00004
|
NM_001278116.2(L1CAM):c.386G>A (p.Arg129Gln)
|
rs200809259
|
0.00004
|
NM_001278116.2(L1CAM):c.992-20G>A
|
rs782085756
|
0.00004
|
NM_001278116.2(L1CAM):c.1050C>T (p.Ala350=)
|
rs182851917
|
0.00003
|
NM_001278116.2(L1CAM):c.1261G>A (p.Val421Ile)
|
rs200006286
|
0.00003
|
NM_001278116.2(L1CAM):c.1670G>C (p.Gly557Ala)
|
rs781845582
|
0.00003
|
NM_001278116.2(L1CAM):c.1673G>A (p.Arg558Gln)
|
rs782557004
|
0.00003
|
NM_001278116.2(L1CAM):c.1781G>A (p.Ser594Asn)
|
rs202107752
|
0.00003
|
NM_001278116.2(L1CAM):c.2308G>A (p.Asp770Asn)
|
rs148516831
|
0.00003
|
NM_001278116.2(L1CAM):c.2715C>T (p.Pro905=)
|
rs782031914
|
0.00003
|
NM_001278116.2(L1CAM):c.3322+11G>A
|
rs1372534909
|
0.00003
|
NM_001278116.2(L1CAM):c.3523G>A (p.Glu1175Lys)
|
rs1064796541
|
0.00003
|
NM_001278116.2(L1CAM):c.385C>T (p.Arg129Trp)
|
rs201978087
|
0.00003
|
NM_001278116.2(L1CAM):c.990G>A (p.Glu330=)
|
rs200004370
|
0.00003
|
NM_001278116.2(L1CAM):c.1148G>A (p.Arg383Gln)
|
rs782254209
|
0.00002
|
NM_001278116.2(L1CAM):c.1219C>T (p.Arg407Cys)
|
rs782756293
|
0.00002
|
NM_001278116.2(L1CAM):c.1249G>A (p.Ala417Thr)
|
rs782331927
|
0.00002
|
NM_001278116.2(L1CAM):c.1269G>A (p.Gln423=)
|
rs41311706
|
0.00002
|
NM_001278116.2(L1CAM):c.1379+12G>A
|
rs376186883
|
0.00002
|
NM_001278116.2(L1CAM):c.1379+3G>A
|
rs782455321
|
0.00002
|
NM_001278116.2(L1CAM):c.1379+8T>C
|
rs782035694
|
0.00002
|
NM_001278116.2(L1CAM):c.1387G>A (p.Glu463Lys)
|
rs202175564
|
0.00002
|
NM_001278116.2(L1CAM):c.1413C>T (p.Asp471=)
|
rs570097458
|
0.00002
|
NM_001278116.2(L1CAM):c.1433C>A (p.Ala478Asp)
|
rs1298830102
|
0.00002
|
NM_001278116.2(L1CAM):c.1481G>A (p.Arg494His)
|
rs782038855
|
0.00002
|
NM_001278116.2(L1CAM):c.1704-4G>A
|
rs1403032493
|
0.00002
|
NM_001278116.2(L1CAM):c.1894C>T (p.Arg632Cys)
|
rs782367123
|
0.00002
|
NM_001278116.2(L1CAM):c.1962C>T (p.Asp654=)
|
rs201372074
|
0.00002
|
NM_001278116.2(L1CAM):c.1978G>A (p.Glu660Lys)
|
rs200688598
|
0.00002
|
NM_001278116.2(L1CAM):c.198-9C>T
|
rs782753470
|
0.00002
|
NM_001278116.2(L1CAM):c.202C>T (p.Arg68Cys)
|
rs1172761444
|
0.00002
|
NM_001278116.2(L1CAM):c.2057C>A (p.Thr686Asn)
|
rs201371159
|
0.00002
|
NM_001278116.2(L1CAM):c.2565G>T (p.Glu855Asp)
|
rs1486944844
|
0.00002
|
NM_001278116.2(L1CAM):c.2869C>A (p.Pro957Thr)
|
rs1307427270
|
0.00002
|
NM_001278116.2(L1CAM):c.3015C>T (p.Ile1005=)
|
rs202082978
|
0.00002
|
NM_001278116.2(L1CAM):c.3290G>A (p.Arg1097Gln)
|
rs374569140
|
0.00002
|
NM_001278116.2(L1CAM):c.3322+19G>A
|
rs375076231
|
0.00002
|
NM_001278116.2(L1CAM):c.3326G>A (p.Arg1109His)
|
rs782420127
|
0.00002
|
NM_001278116.2(L1CAM):c.3549C>T (p.Asn1183=)
|
rs200916591
|
0.00002
|
NM_001278116.2(L1CAM):c.400+10G>A
|
rs368970579
|
0.00002
|
NM_001278116.2(L1CAM):c.401-16C>T
|
rs782088649
|
0.00002
|
NM_001278116.2(L1CAM):c.401-7C>G
|
rs1424993007
|
0.00002
|
NM_001278116.2(L1CAM):c.603C>T (p.Ser201=)
|
rs782223025
|
0.00002
|
NM_001278116.2(L1CAM):c.870C>T (p.Tyr290=)
|
rs782720258
|
0.00002
|
NM_001278116.2(L1CAM):c.92T>C (p.Val31Ala)
|
rs782476478
|
0.00002
|
NM_001278116.2(L1CAM):c.943G>A (p.Glu315Lys)
|
rs782423426
|
0.00002
|
NM_001278116.2(L1CAM):c.1143G>A (p.Lys381=)
|
rs1185735801
|
0.00001
|
NM_001278116.2(L1CAM):c.1161C>T (p.Gly387=)
|
rs781909228
|
0.00001
|
NM_001278116.2(L1CAM):c.1162G>A (p.Ala388Thr)
|
rs782570664
|
0.00001
|
NM_001278116.2(L1CAM):c.1225C>T (p.Arg409Trp)
|
rs782132624
|
0.00001
|
NM_001278116.2(L1CAM):c.1304C>T (p.Thr435Met)
|
rs371999853
|
0.00001
|
NM_001278116.2(L1CAM):c.1353C>T (p.Phe451=)
|
rs1266106551
|
0.00001
|
NM_001278116.2(L1CAM):c.1358C>T (p.Ala453Val)
|
rs1557092050
|
0.00001
|
NM_001278116.2(L1CAM):c.1389G>A (p.Glu463=)
|
rs1161832974
|
0.00001
|
NM_001278116.2(L1CAM):c.1444C>T (p.Leu482=)
|
rs782800846
|
0.00001
|
NM_001278116.2(L1CAM):c.1841C>T (p.Pro614Leu)
|
rs1557091552
|
0.00001
|
NM_001278116.2(L1CAM):c.1880C>T (p.Thr627Met)
|
rs398123360
|
0.00001
|
NM_001278116.2(L1CAM):c.1894C>G (p.Arg632Gly)
|
rs782367123
|
0.00001
|
NM_001278116.2(L1CAM):c.1899G>C (p.Val633=)
|
rs781794652
|
0.00001
|
NM_001278116.2(L1CAM):c.2105C>T (p.Pro702Leu)
|
rs782568205
|
0.00001
|
NM_001278116.2(L1CAM):c.2243T>C (p.Val748Ala)
|
rs782331627
|
0.00001
|
NM_001278116.2(L1CAM):c.2254G>A (p.Val752Met)
|
rs137852525
|
0.00001
|
NM_001278116.2(L1CAM):c.2412C>T (p.Ile804=)
|
rs201540601
|
0.00001
|
NM_001278116.2(L1CAM):c.2500C>T (p.Arg834Trp)
|
rs782716607
|
0.00001
|
NM_001278116.2(L1CAM):c.2536C>T (p.Arg846Cys)
|
rs1373663966
|
0.00001
|
NM_001278116.2(L1CAM):c.255C>T (p.Thr85=)
|
rs201886318
|
0.00001
|
NM_001278116.2(L1CAM):c.266C>T (p.Ser89Leu)
|
rs782178366
|
0.00001
|
NM_001278116.2(L1CAM):c.2698G>A (p.Gly900Arg)
|
rs782097679
|
0.00001
|
NM_001278116.2(L1CAM):c.2722G>A (p.Glu908Lys)
|
rs199822230
|
0.00001
|
NM_001278116.2(L1CAM):c.2758C>T (p.His920Tyr)
|
rs2064701743
|
0.00001
|
NM_001278116.2(L1CAM):c.2763C>T (p.Pro921=)
|
rs781813303
|
0.00001
|
NM_001278116.2(L1CAM):c.3000C>T (p.Gly1000=)
|
rs149420127
|
0.00001
|
NM_001278116.2(L1CAM):c.3047-20G>A
|
rs367891075
|
0.00001
|
NM_001278116.2(L1CAM):c.3118G>A (p.Glu1040Lys)
|
rs1557090130
|
0.00001
|
NM_001278116.2(L1CAM):c.3163G>A (p.Gly1055Arg)
|
rs1484399991
|
0.00001
|
NM_001278116.2(L1CAM):c.3169G>A (p.Glu1057Lys)
|
rs782180684
|
0.00001
|
NM_001278116.2(L1CAM):c.3181G>T (p.Ala1061Ser)
|
rs1232974377
|
0.00001
|
NM_001278116.2(L1CAM):c.3322+12G>A
|
rs202237037
|
0.00001
|
NM_001278116.2(L1CAM):c.3323-8A>C
|
rs1557089873
|
0.00001
|
NM_001278116.2(L1CAM):c.3375C>T (p.Gly1125=)
|
rs1248790030
|
0.00001
|
NM_001278116.2(L1CAM):c.33C>T (p.Leu11=)
|
rs199910719
|
0.00001
|
NM_001278116.2(L1CAM):c.3412C>G (p.Leu1138Val)
|
rs781860875
|
0.00001
|
NM_001278116.2(L1CAM):c.3457+15C>T
|
rs1557089768
|
0.00001
|
NM_001278116.2(L1CAM):c.3489T>C (p.Ser1163=)
|
rs782791362
|
0.00001
|
NM_001278116.2(L1CAM):c.3496C>T (p.Arg1166Ter)
|
rs1418885000
|
0.00001
|
NM_001278116.2(L1CAM):c.3531-12G>C
|
rs111247323
|
0.00001
|
NM_001278116.2(L1CAM):c.3543-11T>C
|
rs782225211
|
0.00001
|
NM_001278116.2(L1CAM):c.3690T>C (p.Ser1230=)
|
rs200610909
|
0.00001
|
NM_001278116.2(L1CAM):c.3711G>A (p.Ala1237=)
|
rs782576787
|
0.00001
|
NM_001278116.2(L1CAM):c.3770A>G (p.Glu1257Gly)
|
rs1557089225
|
0.00001
|
NM_001278116.2(L1CAM):c.3774G>A (p.Ter1258=)
|
rs782235888
|
0.00001
|
NM_001278116.2(L1CAM):c.524-7C>T
|
rs1557092918
|
0.00001
|
NM_001278116.2(L1CAM):c.570C>T (p.Asn190=)
|
rs202098484
|
0.00001
|
NM_001278116.2(L1CAM):c.591T>C (p.Asn197=)
|
rs375862497
|
0.00001
|
NM_001278116.2(L1CAM):c.651G>A (p.Arg217=)
|
rs781814457
|
0.00001
|
NM_001278116.2(L1CAM):c.666G>A (p.Lys222=)
|
rs782615469
|
0.00001
|
NM_001278116.2(L1CAM):c.695-10C>T
|
rs782231167
|
0.00001
|
NM_001278116.2(L1CAM):c.721C>T (p.Arg241Cys)
|
rs201642622
|
0.00001
|
NM_001278116.2(L1CAM):c.726G>T (p.Leu242=)
|
rs200813995
|
0.00001
|
NM_001278116.2(L1CAM):c.774G>C (p.Gln258His)
|
rs930427854
|
0.00001
|
NM_001278116.2(L1CAM):c.860G>A (p.Arg287His)
|
rs200402620
|
0.00001
|
NM_001278116.2(L1CAM):c.925G>A (p.Glu309Lys)
|
rs367665974
|
0.00001
|
NM_001278116.2(L1CAM):c.950C>T (p.Ser317Leu)
|
rs781935859
|
0.00001
|
NC_000023.10:g.(?_153128098)_(153141311_?)del
|
|
|
NC_000023.10:g.(?_153129318)_(153131294_?)del
|
|
|
NC_000023.10:g.(?_153129338)_(153131274_?)del
|
|
|
NC_000023.10:g.(?_153132791)_(153141311_?)del
|
|
|
NC_000023.10:g.(?_153135069)_(153135421_?)del
|
|
|
NC_000023.10:g.(?_153136492)_(153138172_?)del
|
|
|
NM_001278116.2(L1CAM):c.1014G>A (p.Lys338=)
|
|
|
NM_001278116.2(L1CAM):c.1020G>A (p.Gln340=)
|
|
|
NM_001278116.2(L1CAM):c.102A>G (p.Pro34=)
|
|
|
NM_001278116.2(L1CAM):c.1040G>A (p.Gly347Glu)
|
rs2064751491
|
|
NM_001278116.2(L1CAM):c.1052G>A (p.Arg351His)
|
|
|
NM_001278116.2(L1CAM):c.1057G>A (p.Asp353Asn)
|
|
|
NM_001278116.2(L1CAM):c.1064A>G (p.Gln355Arg)
|
|
|
NM_001278116.2(L1CAM):c.1074C>A (p.Gly358=)
|
|
|
NM_001278116.2(L1CAM):c.1083A>T (p.Gln361His)
|
|
|
NM_001278116.2(L1CAM):c.108C>T (p.Val36=)
|
|
|
NM_001278116.2(L1CAM):c.1092C>T (p.Val364=)
|
|
|
NM_001278116.2(L1CAM):c.1100G>A (p.Arg367Lys)
|
rs2064751060
|
|
NM_001278116.2(L1CAM):c.1101A>G (p.Arg367=)
|
|
|
NM_001278116.2(L1CAM):c.1108G>A (p.Gly370Arg)
|
rs137852524
|
|
NM_001278116.2(L1CAM):c.1117G>A (p.Val373Met)
|
|
|
NM_001278116.2(L1CAM):c.1123+12C>T
|
|
|
NM_001278116.2(L1CAM):c.1123+20G>A
|
|
|
NM_001278116.2(L1CAM):c.1123+3G>A
|
|
|
NM_001278116.2(L1CAM):c.1124-10G>C
|
rs2148497514
|
|
NM_001278116.2(L1CAM):c.1124-6G>T
|
|
|
NM_001278116.2(L1CAM):c.1124-9C>T
|
|
|
NM_001278116.2(L1CAM):c.1128G>A (p.Leu376=)
|
|
|
NM_001278116.2(L1CAM):c.1140G>C (p.Gln380His)
|
|
|
NM_001278116.2(L1CAM):c.1143G>C (p.Lys381Asn)
|
rs1185735801
|
|
NM_001278116.2(L1CAM):c.1144T>G (p.Tyr382Asp)
|
|
|
NM_001278116.2(L1CAM):c.1153C>G (p.Gln385Glu)
|
|
|
NM_001278116.2(L1CAM):c.1157G>A (p.Arg386His)
|
|
|
NM_001278116.2(L1CAM):c.1158T>C (p.Arg386=)
|
rs1603275708
|
|
NM_001278116.2(L1CAM):c.1165C>T (p.Leu389=)
|
|
|
NM_001278116.2(L1CAM):c.1167G>A (p.Leu389=)
|
|
|
NM_001278116.2(L1CAM):c.1170C>T (p.Ile390=)
|
|
|
NM_001278116.2(L1CAM):c.1210del (p.Cys404fs)
|
|
|
NM_001278116.2(L1CAM):c.1224C>G (p.Asn408Lys)
|
rs994675918
|
|
NM_001278116.2(L1CAM):c.1226G>A (p.Arg409Gln)
|
|
|
NM_001278116.2(L1CAM):c.1230C>T (p.His410=)
|
|
|
NM_001278116.2(L1CAM):c.1234C>G (p.Leu412Val)
|
|
|
NM_001278116.2(L1CAM):c.1248T>C (p.Asn416=)
|
|
|
NM_001278116.2(L1CAM):c.1260C>T (p.Tyr420=)
|
|
|
NM_001278116.2(L1CAM):c.1267+13C>T
|
|
|
NM_001278116.2(L1CAM):c.1267+17C>T
|
|
|
NM_001278116.2(L1CAM):c.1267+1G>A
|
rs1557092247
|
|
NM_001278116.2(L1CAM):c.1267C>T (p.Gln423Ter)
|
rs1557092248
|
|
NM_001278116.2(L1CAM):c.1268-10C>G
|
|
|
NM_001278116.2(L1CAM):c.1268-11T>C
|
|
|
NM_001278116.2(L1CAM):c.1268-15C>T
|
|
|
NM_001278116.2(L1CAM):c.1268-16G>A
|
|
|
NM_001278116.2(L1CAM):c.1268-5C>T
|
|
|
NM_001278116.2(L1CAM):c.1268A>G (p.Gln423Arg)
|
|
|
NM_001278116.2(L1CAM):c.1292C>T (p.Ala431Val)
|
|
|
NM_001278116.2(L1CAM):c.1294G>A (p.Asp432Asn)
|
|
|
NM_001278116.2(L1CAM):c.1297A>C (p.Asn433His)
|
|
|
NM_001278116.2(L1CAM):c.12G>A (p.Ala4=)
|
|
|
NM_001278116.2(L1CAM):c.1305G>A (p.Thr435=)
|
|
|
NM_001278116.2(L1CAM):c.130C>T (p.Arg44Cys)
|
rs370782270
|
|
NM_001278116.2(L1CAM):c.131G>A (p.Arg44His)
|
|
|
NM_001278116.2(L1CAM):c.1323C>A (p.Gly441=)
|
|
|
NM_001278116.2(L1CAM):c.1325G>A (p.Ser442Asn)
|
|
|
NM_001278116.2(L1CAM):c.132_133delinsAA (p.Leu45Met)
|
|
|
NM_001278116.2(L1CAM):c.1335C>T (p.Tyr445=)
|
rs1603275513
|
|
NM_001278116.2(L1CAM):c.1341G>A (p.Leu447=)
|
|
|
NM_001278116.2(L1CAM):c.1345A>G (p.Lys449Glu)
|
|
|
NM_001278116.2(L1CAM):c.1354G>A (p.Gly452Arg)
|
rs137852520
|
|
NM_001278116.2(L1CAM):c.1359G>C (p.Ala453=)
|
|
|
NM_001278116.2(L1CAM):c.1359G>T (p.Ala453=)
|
|
|
NM_001278116.2(L1CAM):c.1362T>A (p.Pro454=)
|
|
|
NM_001278116.2(L1CAM):c.1379+10_1379+32del
|
|
|
NM_001278116.2(L1CAM):c.1379+11C>G
|
|
|
NM_001278116.2(L1CAM):c.1379+11C>T
|
|
|
NM_001278116.2(L1CAM):c.1379+16T>A
|
|
|
NM_001278116.2(L1CAM):c.1379+20A>G
|
|
|
NM_001278116.2(L1CAM):c.1379+8T>A
|
|
|
NM_001278116.2(L1CAM):c.1380-12T>C
|
|
|
NM_001278116.2(L1CAM):c.1380-16G>A
|
|
|
NM_001278116.2(L1CAM):c.1380-17C>T
|
|
|
NM_001278116.2(L1CAM):c.1380-2A>T
|
|
|
NM_001278116.2(L1CAM):c.1380-5T>C
|
|
|
NM_001278116.2(L1CAM):c.1380-6C>G
|
|
|
NM_001278116.2(L1CAM):c.1380-8C>T
|
|
|
NM_001278116.2(L1CAM):c.1386C>A (p.Asp462Glu)
|
|
|
NM_001278116.2(L1CAM):c.1387G>C (p.Glu463Gln)
|
|
|
NM_001278116.2(L1CAM):c.1395G>A (p.Gly465=)
|
|
|
NM_001278116.2(L1CAM):c.1396A>G (p.Thr466Ala)
|
|
|
NM_001278116.2(L1CAM):c.1399A>G (p.Thr467Ala)
|
|
|
NM_001278116.2(L1CAM):c.139G>T (p.Val47Phe)
|
|
|
NM_001278116.2(L1CAM):c.1417C>T (p.Arg473Cys)
|
rs886039408
|
|
NM_001278116.2(L1CAM):c.1422C>T (p.Phe474=)
|
|
|
NM_001278116.2(L1CAM):c.1434C>A (p.Ala478=)
|
|
|
NM_001278116.2(L1CAM):c.1434C>T (p.Ala478=)
|
|
|
NM_001278116.2(L1CAM):c.1449C>T (p.Gly483=)
|
|
|
NM_001278116.2(L1CAM):c.1453C>T (p.Arg485Ter)
|
rs886039407
|
|
NM_001278116.2(L1CAM):c.1454G>A (p.Arg485Gln)
|
|
|
NM_001278116.2(L1CAM):c.1461C>T (p.Leu487=)
|
|
|
NM_001278116.2(L1CAM):c.1464G>A (p.Gln488=)
|
|
|
NM_001278116.2(L1CAM):c.1465G>A (p.Ala489Thr)
|
|
|
NM_001278116.2(L1CAM):c.1467C>A (p.Ala489=)
|
|
|
NM_001278116.2(L1CAM):c.1473C>T (p.Asp491=)
|
|
|
NM_001278116.2(L1CAM):c.1476C>A (p.Thr492=)
|
|
|
NM_001278116.2(L1CAM):c.1479A>T (p.Gly493=)
|
|
|
NM_001278116.2(L1CAM):c.147C>A (p.Pro49=)
|
|
|
NM_001278116.2(L1CAM):c.147C>T (p.Pro49=)
|
|
|
NM_001278116.2(L1CAM):c.1480C>T (p.Arg494Cys)
|
|
|
NM_001278116.2(L1CAM):c.1491C>T (p.Cys497=)
|
|
|
NM_001278116.2(L1CAM):c.1506C>T (p.Asp502=)
|
|
|
NM_001278116.2(L1CAM):c.1528del (p.Ala510fs)
|
|
|
NM_001278116.2(L1CAM):c.1546+10C>A
|
|
|
NM_001278116.2(L1CAM):c.1546+11C>T
|
|
|
NM_001278116.2(L1CAM):c.1546+15G>A
|
|
|
NM_001278116.2(L1CAM):c.1546+15G>T
|
|
|
NM_001278116.2(L1CAM):c.1546+9_1546+20del
|
|
|
NM_001278116.2(L1CAM):c.1546G>A (p.Asp516Asn)
|
rs782367931
|
|
NM_001278116.2(L1CAM):c.1547-11A>G
|
|
|
NM_001278116.2(L1CAM):c.1547-13G>A
|
|
|
NM_001278116.2(L1CAM):c.1547-17G>A
|
|
|
NM_001278116.2(L1CAM):c.1547-5C>T
|
|
|
NM_001278116.2(L1CAM):c.1552A>G (p.Thr518Ala)
|
|
|
NM_001278116.2(L1CAM):c.1567G>A (p.Gly523Arg)
|
|
|
NM_001278116.2(L1CAM):c.1574G>A (p.Arg525His)
|
|
|
NM_001278116.2(L1CAM):c.1581A>C (p.Thr527=)
|
rs201131192
|
|
NM_001278116.2(L1CAM):c.1595G>A (p.Gly532Asp)
|
|
|
NM_001278116.2(L1CAM):c.1596T>C (p.Gly532=)
|
|
|
NM_001278116.2(L1CAM):c.1603G>A (p.Val535Met)
|
|
|
NM_001278116.2(L1CAM):c.1603del (p.Arg534_Val535insTer)
|
|
|
NM_001278116.2(L1CAM):c.1613C>T (p.Thr538Met)
|
|
|
NM_001278116.2(L1CAM):c.1614G>A (p.Thr538=)
|
|
|
NM_001278116.2(L1CAM):c.1628T>C (p.Phe543Ser)
|
|
|
NM_001278116.2(L1CAM):c.1638C>A (p.Ser546=)
|
|
|
NM_001278116.2(L1CAM):c.1641G>A (p.Leu547=)
|
|
|
NM_001278116.2(L1CAM):c.1641G>C (p.Leu547Phe)
|
|
|
NM_001278116.2(L1CAM):c.1661G>A (p.Arg554His)
|
|
|
NM_001278116.2(L1CAM):c.1668C>T (p.Asp556=)
|
|
|
NM_001278116.2(L1CAM):c.1669G>A (p.Gly557Ser)
|
|
|
NM_001278116.2(L1CAM):c.1672C>T (p.Arg558Ter)
|
rs1557091773
|
|
NM_001278116.2(L1CAM):c.1677C>A (p.Asp559Glu)
|
|
|
NM_001278116.2(L1CAM):c.1677C>T (p.Asp559=)
|
|
|
NM_001278116.2(L1CAM):c.1678C>A (p.Leu560Ile)
|
|
|
NM_001278116.2(L1CAM):c.1678C>T (p.Leu560Phe)
|
rs1414810082
|
|
NM_001278116.2(L1CAM):c.1680C>G (p.Leu560=)
|
|
|
NM_001278116.2(L1CAM):c.1691_1703+3dup
|
|
|
NM_001278116.2(L1CAM):c.1692G>A (p.Gly564=)
|
|
|
NM_001278116.2(L1CAM):c.16C>T (p.Arg6Trp)
|
|
|
NM_001278116.2(L1CAM):c.1702_1703+14del
|
rs1603275315
|
|
NM_001278116.2(L1CAM):c.1703+13A>T
|
|
|
NM_001278116.2(L1CAM):c.1703+1G>A
|
rs2148496455
|
|
NM_001278116.2(L1CAM):c.1703+8C>T
|
|
|
NM_001278116.2(L1CAM):c.1704-13G>A
|
|
|
NM_001278116.2(L1CAM):c.1704-13G>C
|
|
|
NM_001278116.2(L1CAM):c.1704-18_1704-15del
|
rs782806330
|
|
NM_001278116.2(L1CAM):c.1704-20C>T
|
|
|
NM_001278116.2(L1CAM):c.1707C>T (p.Tyr569=)
|
|
|
NM_001278116.2(L1CAM):c.1719T>C (p.Asp573=)
|
|
|
NM_001278116.2(L1CAM):c.1721G>A (p.Gly574Glu)
|
|
|
NM_001278116.2(L1CAM):c.1724G>A (p.Arg575His)
|
|
|
NM_001278116.2(L1CAM):c.1731C>T (p.Val577=)
|
|
|
NM_001278116.2(L1CAM):c.1751G>A (p.Ser584Asn)
|
|
|
NM_001278116.2(L1CAM):c.1752C>T (p.Ser584=)
|
|
|
NM_001278116.2(L1CAM):c.1767C>T (p.Tyr589=)
|
|
|
NM_001278116.2(L1CAM):c.176C>T (p.Ala59Val)
|
rs2148500384
|
|
NM_001278116.2(L1CAM):c.1773C>T (p.Cys591=)
|
|
|
NM_001278116.2(L1CAM):c.1774G>A (p.Val592Met)
|
|
|
NM_001278116.2(L1CAM):c.1779C>T (p.Ala593=)
|
|
|
NM_001278116.2(L1CAM):c.1785C>T (p.Thr595=)
|
|
|
NM_001278116.2(L1CAM):c.1786G>C (p.Glu596Gln)
|
rs137940405
|
|
NM_001278116.2(L1CAM):c.1796T>C (p.Val599Ala)
|
|
|
NM_001278116.2(L1CAM):c.179G>T (p.Ser60Ile)
|
|
|
NM_001278116.2(L1CAM):c.1809G>A (p.Arg603=)
|
|
|
NM_001278116.2(L1CAM):c.1823del (p.Val608fs)
|
rs1603275195
|
|
NM_001278116.2(L1CAM):c.1829-11C>T
|
|
|
NM_001278116.2(L1CAM):c.1829-12C>T
|
|
|
NM_001278116.2(L1CAM):c.1829-15C>A
|
|
|
NM_001278116.2(L1CAM):c.1829-18G>A
|
|
|
NM_001278116.2(L1CAM):c.1829-18G>C
|
|
|
NM_001278116.2(L1CAM):c.1829-19C>T
|
|
|
NM_001278116.2(L1CAM):c.1829-20C>T
|
|
|
NM_001278116.2(L1CAM):c.1829-6C>T
|
|
|
NM_001278116.2(L1CAM):c.1830G>A (p.Gly610=)
|
|
|
NM_001278116.2(L1CAM):c.1833C>T (p.Ser611=)
|
|
|
NM_001278116.2(L1CAM):c.1842G>A (p.Pro614=)
|
rs2064729357
|
|
NM_001278116.2(L1CAM):c.1849C>T (p.Arg617Trp)
|
|
|
NM_001278116.2(L1CAM):c.1850G>A (p.Arg617Gln)
|
|
|
NM_001278116.2(L1CAM):c.1855G>T (p.Val619Leu)
|
|
|
NM_001278116.2(L1CAM):c.1857G>A (p.Val619=)
|
|
|
NM_001278116.2(L1CAM):c.1864G>A (p.Asp622Asn)
|
|
|
NM_001278116.2(L1CAM):c.1869G>C (p.Leu623=)
|
|
|
NM_001278116.2(L1CAM):c.1872C>T (p.His624=)
|
|
|
NM_001278116.2(L1CAM):c.1893G>T (p.Val631=)
|
|
|
NM_001278116.2(L1CAM):c.1895G>A (p.Arg632His)
|
|
|
NM_001278116.2(L1CAM):c.1896C>T (p.Arg632=)
|
|
|
NM_001278116.2(L1CAM):c.1897G>A (p.Val633Met)
|
|
|
NM_001278116.2(L1CAM):c.1899G>T (p.Val633=)
|
|
|
NM_001278116.2(L1CAM):c.189C>T (p.Pro63=)
|
|
|
NM_001278116.2(L1CAM):c.1901C>T (p.Ser634Phe)
|
|
|
NM_001278116.2(L1CAM):c.190G>A (p.Glu64Lys)
|
|
|
NM_001278116.2(L1CAM):c.1913C>A (p.Ala638Glu)
|
rs2148495969
|
|
NM_001278116.2(L1CAM):c.1925A>G (p.Asn642Ser)
|
|
|
NM_001278116.2(L1CAM):c.1927G>A (p.Ala643Thr)
|
|
|
NM_001278116.2(L1CAM):c.1929C>A (p.Ala643=)
|
|
|
NM_001278116.2(L1CAM):c.1929C>T (p.Ala643=)
|
|
|
NM_001278116.2(L1CAM):c.1939+20T>C
|
|
|
NM_001278116.2(L1CAM):c.1939+5G>A
|
rs879253716
|
|
NM_001278116.2(L1CAM):c.1939+7G>A
|
|
|
NM_001278116.2(L1CAM):c.1939A>T (p.Lys647Ter)
|
rs863224494
|
|
NM_001278116.2(L1CAM):c.1940-13C>A
|
|
|
NM_001278116.2(L1CAM):c.1940-14T>C
|
|
|
NM_001278116.2(L1CAM):c.1940-16G>T
|
|
|
NM_001278116.2(L1CAM):c.1940-17G>A
|
|
|
NM_001278116.2(L1CAM):c.1940-17G>T
|
|
|
NM_001278116.2(L1CAM):c.1940-1G>A
|
rs2148495739
|
|
NM_001278116.2(L1CAM):c.1940-8C>A
|
|
|
NM_001278116.2(L1CAM):c.1944T>C (p.Tyr648=)
|
|
|
NM_001278116.2(L1CAM):c.197+14G>A
|
|
|
NM_001278116.2(L1CAM):c.197+16C>T
|
|
|
NM_001278116.2(L1CAM):c.197+18T>C
|
|
|
NM_001278116.2(L1CAM):c.1974G>A (p.Ala658=)
|
|
|
NM_001278116.2(L1CAM):c.1974G>T (p.Ala658=)
|
|
|
NM_001278116.2(L1CAM):c.1979A>C (p.Glu660Ala)
|
|
|
NM_001278116.2(L1CAM):c.198-10C>T
|
|
|
NM_001278116.2(L1CAM):c.198-17C>A
|
|
|
NM_001278116.2(L1CAM):c.198-17C>G
|
|
|
NM_001278116.2(L1CAM):c.198-18G>T
|
|
|
NM_001278116.2(L1CAM):c.198-5C>T
|
|
|
NM_001278116.2(L1CAM):c.198-7C>G
|
|
|
NM_001278116.2(L1CAM):c.198-8G>A
|
rs201664558
|
|
NM_001278116.2(L1CAM):c.198-8G>T
|
|
|
NM_001278116.2(L1CAM):c.2012A>G (p.Asn671Ser)
|
|
|
NM_001278116.2(L1CAM):c.2014C>T (p.Gln672Ter)
|
rs1569544723
|
|
NM_001278116.2(L1CAM):c.2016G>A (p.Gln672=)
|
|
|
NM_001278116.2(L1CAM):c.2018C>T (p.Thr673Ile)
|
|
|
NM_001278116.2(L1CAM):c.2022T>C (p.Ser674=)
|
|
|
NM_001278116.2(L1CAM):c.2025C>T (p.Thr675=)
|
|
|
NM_001278116.2(L1CAM):c.2037G>C (p.Leu679=)
|
|
|
NM_001278116.2(L1CAM):c.203G>T (p.Arg68Leu)
|
rs2064778846
|
|
NM_001278116.2(L1CAM):c.2040G>A (p.Ser680=)
|
|
|
NM_001278116.2(L1CAM):c.2042C>T (p.Pro681Leu)
|
rs1557091354
|
|
NM_001278116.2(L1CAM):c.2049C>T (p.Val683=)
|
|
|
NM_001278116.2(L1CAM):c.2058C>T (p.Thr686=)
|
rs1603274965
|
|
NM_001278116.2(L1CAM):c.2070T>C (p.Thr690=)
|
|
|
NM_001278116.2(L1CAM):c.2078A>T (p.Asn693Ile)
|
|
|
NM_001278116.2(L1CAM):c.2092G>A (p.Gly698Arg)
|
rs886039409
|
|
NM_001278116.2(L1CAM):c.2094G>A (p.Gly698=)
|
|
|
NM_001278116.2(L1CAM):c.2095G>A (p.Glu699Lys)
|
|
|
NM_001278116.2(L1CAM):c.2099C>A (p.Pro700His)
|
|
|
NM_001278116.2(L1CAM):c.2107G>T (p.Val703Phe)
|
|
|
NM_001278116.2(L1CAM):c.2109C>T (p.Val703=)
|
|
|
NM_001278116.2(L1CAM):c.210G>A (p.Thr70=)
|
|
|
NM_001278116.2(L1CAM):c.2117C>T (p.Thr706Ile)
|
|
|
NM_001278116.2(L1CAM):c.2121G>A (p.Val707=)
|
|
|
NM_001278116.2(L1CAM):c.2123T>A (p.Val708Asp)
|
|
|
NM_001278116.2(L1CAM):c.2130T>C (p.Pro710=)
|
|
|
NM_001278116.2(L1CAM):c.2137+11G>A
|
|
|
NM_001278116.2(L1CAM):c.2137+15C>T
|
|
|
NM_001278116.2(L1CAM):c.2137+18C>A
|
|
|
NM_001278116.2(L1CAM):c.2137+19C>T
|
|
|
NM_001278116.2(L1CAM):c.2137+1G>A
|
rs1557091278
|
|
NM_001278116.2(L1CAM):c.2137+5_2137+6insGGCAGGTGT
|
rs398123361
|
|
NM_001278116.2(L1CAM):c.2138-14A>G
|
|
|
NM_001278116.2(L1CAM):c.2138-18T>C
|
|
|
NM_001278116.2(L1CAM):c.2138-20G>A
|
|
|
NM_001278116.2(L1CAM):c.2138-21_2138-18dup
|
|
|
NM_001278116.2(L1CAM):c.2138-4C>G
|
|
|
NM_001278116.2(L1CAM):c.2166G>A (p.Lys722=)
|
|
|
NM_001278116.2(L1CAM):c.2184C>T (p.Thr728=)
|
|
|
NM_001278116.2(L1CAM):c.2195T>A (p.Val732Asp)
|
rs1569544718
|
|
NM_001278116.2(L1CAM):c.2201C>T (p.Thr734Met)
|
|
|
NM_001278116.2(L1CAM):c.2202G>A (p.Thr734=)
|
|
|
NM_001278116.2(L1CAM):c.2208+12T>C
|
|
|
NM_001278116.2(L1CAM):c.2209-10C>T
|
|
|
NM_001278116.2(L1CAM):c.2209-13T>C
|
|
|
NM_001278116.2(L1CAM):c.2209-9C>T
|
rs201704250
|
|
NM_001278116.2(L1CAM):c.2211G>T (p.Pro737=)
|
|
|
NM_001278116.2(L1CAM):c.2214C>T (p.Leu738=)
|
|
|
NM_001278116.2(L1CAM):c.2215C>T (p.Arg739Trp)
|
|
|
NM_001278116.2(L1CAM):c.2216G>A (p.Arg739Gln)
|
|
|
NM_001278116.2(L1CAM):c.2217G>A (p.Arg739=)
|
|
|
NM_001278116.2(L1CAM):c.2222T>C (p.Met741Thr)
|
|
|
NM_001278116.2(L1CAM):c.2236C>T (p.Pro746Ser)
|
|
|
NM_001278116.2(L1CAM):c.2250C>T (p.Tyr750=)
|
|
|
NM_001278116.2(L1CAM):c.2252G>A (p.Arg751His)
|
|
|
NM_001278116.2(L1CAM):c.2253C>T (p.Arg751=)
|
|
|
NM_001278116.2(L1CAM):c.2258_2263dup (p.Gln753_Trp754dup)
|
rs2064718045
|
|
NM_001278116.2(L1CAM):c.225C>T (p.His75=)
|
|
|
NM_001278116.2(L1CAM):c.2260T>C (p.Trp754Arg)
|
|
|
NM_001278116.2(L1CAM):c.2274G>C (p.Gly758=)
|
rs2071643
|
|
NM_001278116.2(L1CAM):c.2280A>G (p.Arg760=)
|
|
|
NM_001278116.2(L1CAM):c.2291A>G (p.Gln764Arg)
|
|
|
NM_001278116.2(L1CAM):c.2295G>A (p.Glu765=)
|
|
|
NM_001278116.2(L1CAM):c.22G>C (p.Val8Leu)
|
|
|
NM_001278116.2(L1CAM):c.2300T>C (p.Ile767Thr)
|
rs1569544704
|
|
NM_001278116.2(L1CAM):c.2317C>T (p.Leu773=)
|
|
|
NM_001278116.2(L1CAM):c.2325G>A (p.Val775=)
|
|
|
NM_001278116.2(L1CAM):c.2329A>C (p.Asn777His)
|
|
|
NM_001278116.2(L1CAM):c.2334G>A (p.Thr778=)
|
|
|
NM_001278116.2(L1CAM):c.2340C>T (p.Thr780=)
|
rs2064716807
|
|
NM_001278116.2(L1CAM):c.2343C>T (p.Phe781=)
|
|
|
NM_001278116.2(L1CAM):c.2344G>A (p.Val782Met)
|
|
|
NM_001278116.2(L1CAM):c.2344G>C (p.Val782Leu)
|
|
|
NM_001278116.2(L1CAM):c.2349C>T (p.Pro783=)
|
|
|
NM_001278116.2(L1CAM):c.2371G>A (p.Val791Ile)
|
|
|
NM_001278116.2(L1CAM):c.2381A>G (p.Gln794Arg)
|
|
|
NM_001278116.2(L1CAM):c.2382G>C (p.Gln794His)
|
|
|
NM_001278116.2(L1CAM):c.2389G>A (p.Gly797Arg)
|
|
|
NM_001278116.2(L1CAM):c.2401C>G (p.Gln801Glu)
|
|
|
NM_001278116.2(L1CAM):c.2402A>G (p.Gln801Arg)
|
|
|
NM_001278116.2(L1CAM):c.2419T>C (p.Ser807Pro)
|
|
|
NM_001278116.2(L1CAM):c.2427G>A (p.Glu809=)
|
|
|
NM_001278116.2(L1CAM):c.2431+10C>T
|
|
|
NM_001278116.2(L1CAM):c.2431+11G>A
|
|
|
NM_001278116.2(L1CAM):c.2431+11G>C
|
|
|
NM_001278116.2(L1CAM):c.2431+16G>C
|
|
|
NM_001278116.2(L1CAM):c.2431+20C>T
|
|
|
NM_001278116.2(L1CAM):c.2431+5G>A
|
rs1557090943
|
|
NM_001278116.2(L1CAM):c.2452C>T (p.Leu818=)
|
rs1603274419
|
|
NM_001278116.2(L1CAM):c.2459G>A (p.Gly820Asp)
|
rs2148494420
|
|
NM_001278116.2(L1CAM):c.2475C>A (p.Asn825Lys)
|
|
|
NM_001278116.2(L1CAM):c.247G>A (p.Gly83Ser)
|
|
|
NM_001278116.2(L1CAM):c.2485G>A (p.Val829Met)
|
|
|
NM_001278116.2(L1CAM):c.2501G>A (p.Arg834Gln)
|
|
|
NM_001278116.2(L1CAM):c.2504C>T (p.Pro835Leu)
|
|
|
NM_001278116.2(L1CAM):c.2505G>A (p.Pro835=)
|
|
|
NM_001278116.2(L1CAM):c.250G>T (p.Val84Leu)
|
|
|
NM_001278116.2(L1CAM):c.2515G>C (p.Ala839Pro)
|
|
|
NM_001278116.2(L1CAM):c.2537G>A (p.Arg846His)
|
rs149737236
|
|
NM_001278116.2(L1CAM):c.2538C>T (p.Arg846=)
|
|
|
NM_001278116.2(L1CAM):c.2539G>T (p.Gly847Ter)
|
|
|
NM_001278116.2(L1CAM):c.2541A>G (p.Gly847=)
|
rs2148494333
|
|
NM_001278116.2(L1CAM):c.2544C>A (p.Tyr848Ter)
|
rs886039410
|
|
NM_001278116.2(L1CAM):c.2547+12A>C
|
|
|
NM_001278116.2(L1CAM):c.2547+14G>C
|
|
|
NM_001278116.2(L1CAM):c.2547+14G>T
|
|
|
NM_001278116.2(L1CAM):c.2547+2T>G
|
|
|
NM_001278116.2(L1CAM):c.2548-10G>A
|
|
|
NM_001278116.2(L1CAM):c.2548-11C>T
|
|
|
NM_001278116.2(L1CAM):c.2548-14G>A
|
|
|
NM_001278116.2(L1CAM):c.2548-4G>C
|
|
|
NM_001278116.2(L1CAM):c.2553G>A (p.Thr851=)
|
rs373921972
|
|
NM_001278116.2(L1CAM):c.2553G>C (p.Thr851=)
|
|
|
NM_001278116.2(L1CAM):c.2559G>A (p.Trp853Ter)
|
rs2064704974
|
|
NM_001278116.2(L1CAM):c.2562G>A (p.Arg854=)
|
|
|
NM_001278116.2(L1CAM):c.2562G>T (p.Arg854Ser)
|
rs1032992615
|
|
NM_001278116.2(L1CAM):c.2572C>A (p.Gln858Lys)
|
|
|
NM_001278116.2(L1CAM):c.2574G>A (p.Gln858=)
|
|
|
NM_001278116.2(L1CAM):c.2581_2589del (p.His861_Lys863del)
|
|
|
NM_001278116.2(L1CAM):c.2584A>G (p.Ser862Gly)
|
rs2148494141
|
|
NM_001278116.2(L1CAM):c.2593C>G (p.His865Asp)
|
|
|
NM_001278116.2(L1CAM):c.2593C>T (p.His865Tyr)
|
|
|
NM_001278116.2(L1CAM):c.2597T>A (p.Ile866Asn)
|
|
|
NM_001278116.2(L1CAM):c.2607C>A (p.Asp869Glu)
|
|
|
NM_001278116.2(L1CAM):c.2616G>A (p.Val872=)
|
|
|
NM_001278116.2(L1CAM):c.2622C>T (p.Pro874=)
|
|
|
NM_001278116.2(L1CAM):c.2623G>A (p.Ala875Thr)
|
|
|
NM_001278116.2(L1CAM):c.2627A>G (p.Asn876Ser)
|
|
|
NM_001278116.2(L1CAM):c.2643C>T (p.Ile881=)
|
|
|
NM_001278116.2(L1CAM):c.2654T>A (p.Leu885Ter)
|
rs2148494096
|
|
NM_001278116.2(L1CAM):c.2656C>T (p.Arg886Trp)
|
|
|
NM_001278116.2(L1CAM):c.2674C>G (p.His892Asp)
|
rs2148494073
|
|
NM_001278116.2(L1CAM):c.2676C>T (p.His892=)
|
|
|
NM_001278116.2(L1CAM):c.267G>C (p.Ser89=)
|
|
|
NM_001278116.2(L1CAM):c.267G>T (p.Ser89=)
|
rs782641422
|
|
NM_001278116.2(L1CAM):c.2691C>T (p.Ala897=)
|
|
|
NM_001278116.2(L1CAM):c.269C>T (p.Pro90Leu)
|
|
|
NM_001278116.2(L1CAM):c.2701C>T (p.Arg901Ter)
|
rs2148494055
|
|
NM_001278116.2(L1CAM):c.2702G>A (p.Arg901Gln)
|
|
|
NM_001278116.2(L1CAM):c.2709G>A (p.Ser903=)
|
|
|
NM_001278116.2(L1CAM):c.2709G>C (p.Ser903=)
|
rs146224667
|
|
NM_001278116.2(L1CAM):c.270C>G (p.Pro90=)
|
|
|
NM_001278116.2(L1CAM):c.2716G>A (p.Ala906Thr)
|
|
|
NM_001278116.2(L1CAM):c.2720G>A (p.Ser907Asn)
|
|
|
NM_001278116.2(L1CAM):c.273C>T (p.His91=)
|
|
|
NM_001278116.2(L1CAM):c.2742A>T (p.Pro914=)
|
|
|
NM_001278116.2(L1CAM):c.2745G>A (p.Glu915=)
|
|
|
NM_001278116.2(L1CAM):c.2747G>A (p.Gly916Glu)
|
|
|
NM_001278116.2(L1CAM):c.2749+14C>T
|
|
|
NM_001278116.2(L1CAM):c.2749+16C>T
|
|
|
NM_001278116.2(L1CAM):c.2749+19G>A
|
|
|
NM_001278116.2(L1CAM):c.2749+19G>T
|
|
|
NM_001278116.2(L1CAM):c.2750-20C>T
|
|
|
NM_001278116.2(L1CAM):c.2750-6C>T
|
|
|
NM_001278116.2(L1CAM):c.2750-7C>T
|
|
|
NM_001278116.2(L1CAM):c.2756G>A (p.Gly919Asp)
|
|
|
NM_001278116.2(L1CAM):c.2769G>A (p.Ala923=)
|
|
|
NM_001278116.2(L1CAM):c.2775C>T (p.His925=)
|
|
|
NM_001278116.2(L1CAM):c.2781G>A (p.Glu927=)
|
|
|
NM_001278116.2(L1CAM):c.2802G>A (p.Leu934=)
|
|
|
NM_001278116.2(L1CAM):c.2809C>T (p.Arg937Cys)
|
|
|
NM_001278116.2(L1CAM):c.2810G>A (p.Arg937His)
|
|
|
NM_001278116.2(L1CAM):c.2813G>A (p.Trp938Ter)
|
rs2148493891
|
|
NM_001278116.2(L1CAM):c.2822C>T (p.Pro941Leu)
|
rs2148493879
|
|
NM_001278116.2(L1CAM):c.2829C>T (p.Ser943=)
|
|
|
NM_001278116.2(L1CAM):c.2835C>T (p.Asn945=)
|
|
|
NM_001278116.2(L1CAM):c.2837G>A (p.Gly946Asp)
|
|
|
NM_001278116.2(L1CAM):c.2838C>T (p.Gly946=)
|
|
|
NM_001278116.2(L1CAM):c.2839G>A (p.Val947Met)
|
|
|
NM_001278116.2(L1CAM):c.2847C>T (p.Thr949=)
|
|
|
NM_001278116.2(L1CAM):c.2848G>A (p.Gly950Ser)
|
rs1569544662
|
|
NM_001278116.2(L1CAM):c.2852A>G (p.Tyr951Cys)
|
|
|
NM_001278116.2(L1CAM):c.2872+11C>T
|
|
|
NM_001278116.2(L1CAM):c.2872+12G>A
|
|
|
NM_001278116.2(L1CAM):c.2872+14C>T
|
|
|
NM_001278116.2(L1CAM):c.2872+1G>A
|
|
|
NM_001278116.2(L1CAM):c.2872+3G>A
|
|
|
NM_001278116.2(L1CAM):c.2872+8C>T
|
|
|
NM_001278116.2(L1CAM):c.2873-13T>C
|
|
|
NM_001278116.2(L1CAM):c.2873-16_2873-15del
|
|
|
NM_001278116.2(L1CAM):c.2873-17C>T
|
|
|
NM_001278116.2(L1CAM):c.2873-19C>T
|
|
|
NM_001278116.2(L1CAM):c.2873-4A>G
|
|
|
NM_001278116.2(L1CAM):c.2873-7C>A
|
|
|
NM_001278116.2(L1CAM):c.2876A>G (p.Asp959Gly)
|
|
|
NM_001278116.2(L1CAM):c.2877T>G (p.Asp959Glu)
|
|
|
NM_001278116.2(L1CAM):c.2880G>A (p.Glu960=)
|
|
|
NM_001278116.2(L1CAM):c.2892G>A (p.Gly964=)
|
|
|
NM_001278116.2(L1CAM):c.2892G>T (p.Gly964=)
|
|
|
NM_001278116.2(L1CAM):c.2893C>T (p.Gln965Ter)
|
|
|
NM_001278116.2(L1CAM):c.289A>G (p.Ile97Val)
|
|
|
NM_001278116.2(L1CAM):c.2912G>A (p.Arg971Gln)
|
|
|
NM_001278116.2(L1CAM):c.2919C>T (p.Pro973=)
|
|
|
NM_001278116.2(L1CAM):c.2920G>A (p.Glu974Lys)
|
|
|
NM_001278116.2(L1CAM):c.2927G>A (p.Arg976Gln)
|
|
|
NM_001278116.2(L1CAM):c.2929A>G (p.Thr977Ala)
|
|
|
NM_001278116.2(L1CAM):c.293C>T (p.Thr98Met)
|
|
|
NM_001278116.2(L1CAM):c.2940G>A (p.Leu980=)
|
|
|
NM_001278116.2(L1CAM):c.2942C>T (p.Thr981Ile)
|
|
|
NM_001278116.2(L1CAM):c.2943C>A (p.Thr981=)
|
|
|
NM_001278116.2(L1CAM):c.2943C>T (p.Thr981=)
|
|
|
NM_001278116.2(L1CAM):c.2944G>A (p.Asp982Asn)
|
|
|
NM_001278116.2(L1CAM):c.2968C>T (p.Arg990Cys)
|
|
|
NM_001278116.2(L1CAM):c.2985C>T (p.Ala995=)
|
|
|
NM_001278116.2(L1CAM):c.2988C>T (p.Thr996=)
|
rs200863731
|
|
NM_001278116.2(L1CAM):c.2996A>C (p.Glu999Ala)
|
|
|
NM_001278116.2(L1CAM):c.2997G>A (p.Glu999=)
|
|
|
NM_001278116.2(L1CAM):c.2999G>A (p.Gly1000Asp)
|
rs2148493606
|
|
NM_001278116.2(L1CAM):c.3012C>T (p.Ala1004=)
|
|
|
NM_001278116.2(L1CAM):c.3014T>C (p.Ile1005Thr)
|
rs398123365
|
|
NM_001278116.2(L1CAM):c.3020G>A (p.Arg1007Gln)
|
|
|
NM_001278116.2(L1CAM):c.3039C>T (p.Ala1013=)
|
|
|
NM_001278116.2(L1CAM):c.3046+12G>A
|
|
|
NM_001278116.2(L1CAM):c.3046+1G>C
|
rs1557090220
|
|
NM_001278116.2(L1CAM):c.3046+1G>T
|
|
|
NM_001278116.2(L1CAM):c.3046+20T>A
|
rs2148493535
|
|
NM_001278116.2(L1CAM):c.3046+5G>C
|
|
|
NM_001278116.2(L1CAM):c.3046+9G>A
|
|
|
NM_001278116.2(L1CAM):c.3047-7C>A
|
|
|
NM_001278116.2(L1CAM):c.3048G>A (p.Gly1016=)
|
|
|
NM_001278116.2(L1CAM):c.3048G>C (p.Gly1016=)
|
|
|
NM_001278116.2(L1CAM):c.3053C>G (p.Ser1018Ter)
|
rs1557090161
|
|
NM_001278116.2(L1CAM):c.3056A>G (p.Asp1019Gly)
|
|
|
NM_001278116.2(L1CAM):c.3069C>T (p.Ile1023=)
|
|
|
NM_001278116.2(L1CAM):c.3078A>G (p.Thr1026=)
|
|
|
NM_001278116.2(L1CAM):c.3081G>T (p.Ala1027=)
|
rs139393266
|
|
NM_001278116.2(L1CAM):c.3095G>A (p.Ser1032Asn)
|
rs2148493445
|
|
NM_001278116.2(L1CAM):c.3100G>A (p.Val1034Ile)
|
|
|
NM_001278116.2(L1CAM):c.3159C>T (p.Ala1053=)
|
|
|
NM_001278116.2(L1CAM):c.3166+13G>A
|
|
|
NM_001278116.2(L1CAM):c.3166+15G>C
|
|
|
NM_001278116.2(L1CAM):c.3166+16G>A
|
|
|
NM_001278116.2(L1CAM):c.3166+18C>A
|
|
|
NM_001278116.2(L1CAM):c.3166+1G>T
|
rs1603273984
|
|
NM_001278116.2(L1CAM):c.3166+7G>A
|
|
|
NM_001278116.2(L1CAM):c.3167-13C>T
|
|
|
NM_001278116.2(L1CAM):c.3167-2A>G
|
|
|
NM_001278116.2(L1CAM):c.3174G>A (p.Lys1058=)
|
|
|
NM_001278116.2(L1CAM):c.317A>G (p.Gln106Arg)
|
|
|
NM_001278116.2(L1CAM):c.3192G>A (p.Ser1064=)
|
|
|
NM_001278116.2(L1CAM):c.31CTC[2] (p.Leu13del)
|
rs2064809071
|
|
NM_001278116.2(L1CAM):c.3227C>T (p.Thr1076Met)
|
|
|
NM_001278116.2(L1CAM):c.3235G>A (p.Asp1079Asn)
|
|
|
NM_001278116.2(L1CAM):c.3238C>T (p.Leu1080=)
|
rs1184309171
|
|
NM_001278116.2(L1CAM):c.3254A>G (p.Asp1085Gly)
|
|
|
NM_001278116.2(L1CAM):c.3257A>C (p.Tyr1086Ser)
|
rs2148493224
|
|
NM_001278116.2(L1CAM):c.3258C>T (p.Tyr1086=)
|
|
|
NM_001278116.2(L1CAM):c.3264C>A (p.Ile1088=)
|
|
|
NM_001278116.2(L1CAM):c.3267C>T (p.His1089=)
|
rs2148493212
|
|
NM_001278116.2(L1CAM):c.3268T>C (p.Leu1090=)
|
|
|
NM_001278116.2(L1CAM):c.3281G>C (p.Arg1094Thr)
|
|
|
NM_001278116.2(L1CAM):c.3289C>T (p.Arg1097Trp)
|
|
|
NM_001278116.2(L1CAM):c.3296A>G (p.Gln1099Arg)
|
|
|
NM_001278116.2(L1CAM):c.3300G>A (p.Met1100Ile)
|
|
|
NM_001278116.2(L1CAM):c.3302C>T (p.Ala1101Val)
|
|
|
NM_001278116.2(L1CAM):c.3316G>A (p.Gly1106Ser)
|
|
|
NM_001278116.2(L1CAM):c.3322+10C>T
|
|
|
NM_001278116.2(L1CAM):c.3322+14G>A
|
|
|
NM_001278116.2(L1CAM):c.3322+18C>T
|
|
|
NM_001278116.2(L1CAM):c.3322+7C>T
|
|
|
NM_001278116.2(L1CAM):c.3322+8G>A
|
|
|
NM_001278116.2(L1CAM):c.3323-11C>T
|
|
|
NM_001278116.2(L1CAM):c.3323-13G>A
|
|
|
NM_001278116.2(L1CAM):c.3323-14T>C
|
|
|
NM_001278116.2(L1CAM):c.3323-15G>A
|
|
|
NM_001278116.2(L1CAM):c.3323-18C>A
|
|
|
NM_001278116.2(L1CAM):c.3323-19G>A
|
|
|
NM_001278116.2(L1CAM):c.3323-24dup
|
rs782818719
|
|
NM_001278116.2(L1CAM):c.3334C>T (p.Leu1112Phe)
|
|
|
NM_001278116.2(L1CAM):c.3348C>T (p.Gly1116=)
|
|
|
NM_001278116.2(L1CAM):c.3351C>T (p.Phe1117=)
|
|
|
NM_001278116.2(L1CAM):c.3352G>A (p.Ala1118Thr)
|
|
|
NM_001278116.2(L1CAM):c.3368del (p.Phe1123fs)
|
|
|
NM_001278116.2(L1CAM):c.3370A>T (p.Ile1124Phe)
|
|
|
NM_001278116.2(L1CAM):c.3372C>T (p.Ile1124=)
|
|
|
NM_001278116.2(L1CAM):c.3373G>A (p.Gly1125Ser)
|
|
|
NM_001278116.2(L1CAM):c.337C>T (p.Arg113Cys)
|
|
|
NM_001278116.2(L1CAM):c.3388A>G (p.Ile1130Val)
|
|
|
NM_001278116.2(L1CAM):c.3396C>T (p.Leu1132=)
|
|
|
NM_001278116.2(L1CAM):c.33C>G (p.Leu11=)
|
rs199910719
|
|
NM_001278116.2(L1CAM):c.3405C>T (p.Leu1135=)
|
|
|
NM_001278116.2(L1CAM):c.3406G>A (p.Val1136Ile)
|
|
|
NM_001278116.2(L1CAM):c.3408C>T (p.Val1136=)
|
|
|
NM_001278116.2(L1CAM):c.3414C>T (p.Leu1138=)
|
|
|
NM_001278116.2(L1CAM):c.3429C>A (p.Ile1143=)
|
|
|
NM_001278116.2(L1CAM):c.3432G>A (p.Lys1144=)
|
|
|
NM_001278116.2(L1CAM):c.3433C>T (p.Arg1145Cys)
|
|
|
NM_001278116.2(L1CAM):c.3435C>A (p.Arg1145=)
|
|
|
NM_001278116.2(L1CAM):c.3444C>T (p.Gly1148=)
|
|
|
NM_001278116.2(L1CAM):c.3448_3452delinsGGG (p.Lys1150fs)
|
rs2064686873
|
|
NM_001278116.2(L1CAM):c.3453_3456del (p.Lys1150_Tyr1151insTer)
|
|
|
NM_001278116.2(L1CAM):c.3457+12G>A
|
|
|
NM_001278116.2(L1CAM):c.3457+13C>T
|
|
|
NM_001278116.2(L1CAM):c.3457+18C>G
|
|
|
NM_001278116.2(L1CAM):c.3457+18C>T
|
rs76726076
|
|
NM_001278116.2(L1CAM):c.3457+19G>A
|
|
|
NM_001278116.2(L1CAM):c.3457+5C>T
|
|
|
NM_001278116.2(L1CAM):c.3458-18C>G
|
|
|
NM_001278116.2(L1CAM):c.3458-8G>A
|
|
|
NM_001278116.2(L1CAM):c.3458-9T>C
|
|
|
NM_001278116.2(L1CAM):c.3474C>T (p.Asp1158=)
|
|
|
NM_001278116.2(L1CAM):c.3477C>A (p.Thr1159=)
|
|
|
NM_001278116.2(L1CAM):c.3477C>G (p.Thr1159=)
|
|
|
NM_001278116.2(L1CAM):c.348C>T (p.Ala116=)
|
|
|
NM_001278116.2(L1CAM):c.3501G>A (p.Pro1167=)
|
|
|
NM_001278116.2(L1CAM):c.351C>T (p.Ser117=)
|
|
|
NM_001278116.2(L1CAM):c.3520G>A (p.Gly1174Ser)
|
|
|
NM_001278116.2(L1CAM):c.3522C>G (p.Gly1174=)
|
|
|
NM_001278116.2(L1CAM):c.3530+11G>A
|
|
|
NM_001278116.2(L1CAM):c.3530+15G>A
|
|
|
NM_001278116.2(L1CAM):c.3530+15G>C
|
|
|
NM_001278116.2(L1CAM):c.3530+17G>A
|
|
|
NM_001278116.2(L1CAM):c.3530+18T>C
|
|
|
NM_001278116.2(L1CAM):c.3530+5G>A
|
|
|
NM_001278116.2(L1CAM):c.3530+7C>T
|
|
|
NM_001278116.2(L1CAM):c.3531-12G>A
|
rs111247323
|
|
NM_001278116.2(L1CAM):c.3531-14C>T
|
|
|
NM_001278116.2(L1CAM):c.3531-20G>C
|
|
|
NM_001278116.2(L1CAM):c.3542+11G>A
|
|
|
NM_001278116.2(L1CAM):c.3542+11G>T
|
|
|
NM_001278116.2(L1CAM):c.3542+15G>A
|
|
|
NM_001278116.2(L1CAM):c.3543-13T>C
|
|
|
NM_001278116.2(L1CAM):c.3543-14C>G
|
|
|
NM_001278116.2(L1CAM):c.3543-15C>T
|
|
|
NM_001278116.2(L1CAM):c.3543-16C>T
|
|
|
NM_001278116.2(L1CAM):c.3543-9C>T
|
|
|
NM_001278116.2(L1CAM):c.3572G>C (p.Ser1191Thr)
|
|
|
NM_001278116.2(L1CAM):c.3582G>A (p.Ser1194=)
|
|
|
NM_001278116.2(L1CAM):c.3588C>A (p.Asn1196Lys)
|
rs782086274
|
|
NM_001278116.2(L1CAM):c.3588C>T (p.Asn1196=)
|
|
|
NM_001278116.2(L1CAM):c.3589G>A (p.Gly1197Arg)
|
|
|
NM_001278116.2(L1CAM):c.3591G>A (p.Gly1197=)
|
rs2064675485
|
|
NM_001278116.2(L1CAM):c.3606G>A (p.Leu1202=)
|
|
|
NM_001278116.2(L1CAM):c.3609C>T (p.Gly1203=)
|
|
|
NM_001278116.2(L1CAM):c.3615C>T (p.Asp1205=)
|
|
|
NM_001278116.2(L1CAM):c.3618C>T (p.Asp1206=)
|
|
|
NM_001278116.2(L1CAM):c.3626C>A (p.Ala1209Asp)
|
|
|
NM_001278116.2(L1CAM):c.3627C>T (p.Ala1209=)
|
|
|
NM_001278116.2(L1CAM):c.3628G>A (p.Asp1210Asn)
|
rs781964622
|
|
NM_001278116.2(L1CAM):c.3639C>T (p.Gly1213=)
|
|
|
NM_001278116.2(L1CAM):c.3648T>C (p.Asp1216=)
|
|
|
NM_001278116.2(L1CAM):c.3657C>T (p.Phe1219=)
|
|
|
NM_001278116.2(L1CAM):c.3660C>T (p.Asn1220=)
|
|
|
NM_001278116.2(L1CAM):c.3663G>A (p.Glu1221=)
|
|
|
NM_001278116.2(L1CAM):c.366C>T (p.Thr122=)
|
|
|
NM_001278116.2(L1CAM):c.3675C>T (p.Phe1225=)
|
|
|
NM_001278116.2(L1CAM):c.3681C>A (p.Gly1227=)
|
|
|
NM_001278116.2(L1CAM):c.3693C>A (p.Gly1231=)
|
|
|
NM_001278116.2(L1CAM):c.3698A>G (p.Lys1233Arg)
|
|
|
NM_001278116.2(L1CAM):c.369C>T (p.Ala123=)
|
|
|
NM_001278116.2(L1CAM):c.3702G>A (p.Glu1234=)
|
rs1315137274
|
|
NM_001278116.2(L1CAM):c.3705G>A (p.Lys1235=)
|
|
|
NM_001278116.2(L1CAM):c.3708G>A (p.Glu1236=)
|
|
|
NM_001278116.2(L1CAM):c.370A>G (p.Met124Val)
|
|
|
NM_001278116.2(L1CAM):c.3721A>G (p.Asn1241Asp)
|
|
|
NM_001278116.2(L1CAM):c.3734G>A (p.Gly1245Glu)
|
rs2148491886
|
|
NM_001278116.2(L1CAM):c.3739A>G (p.Thr1247Ala)
|
|
|
NM_001278116.2(L1CAM):c.3744C>T (p.Ser1248=)
|
|
|
NM_001278116.2(L1CAM):c.3747C>A (p.Pro1249=)
|
|
|
NM_001278116.2(L1CAM):c.3752A>C (p.Asn1251Thr)
|
|
|
NM_001278116.2(L1CAM):c.3759C>T (p.Ala1253=)
|
|
|
NM_001278116.2(L1CAM):c.3760G>A (p.Val1254Met)
|
|
|
NM_001278116.2(L1CAM):c.3763G>A (p.Ala1255Thr)
|
|
|
NM_001278116.2(L1CAM):c.3764C>T (p.Ala1255Val)
|
|
|
NM_001278116.2(L1CAM):c.3766C>T (p.Leu1256=)
|
|
|
NM_001278116.2(L1CAM):c.3768A>G (p.Leu1256=)
|
|
|
NM_001278116.2(L1CAM):c.3773A>T (p.Ter1258Leu)
|
|
|
NM_001278116.2(L1CAM):c.391A>G (p.Met131Val)
|
|
|
NM_001278116.2(L1CAM):c.393G>A (p.Met131Ile)
|
|
|
NM_001278116.2(L1CAM):c.396C>G (p.Ala132=)
|
|
|
NM_001278116.2(L1CAM):c.400+10G>C
|
|
|
NM_001278116.2(L1CAM):c.400+11C>T
|
|
|
NM_001278116.2(L1CAM):c.400+12T>C
|
|
|
NM_001278116.2(L1CAM):c.400+14C>T
|
|
|
NM_001278116.2(L1CAM):c.400+19A>G
|
|
|
NM_001278116.2(L1CAM):c.400+4C>T
|
|
|
NM_001278116.2(L1CAM):c.400+5G>A
|
rs1569544908
|
|
NM_001278116.2(L1CAM):c.401-15G>A
|
|
|
NM_001278116.2(L1CAM):c.401-17C>T
|
|
|
NM_001278116.2(L1CAM):c.401-1G>A
|
rs2064766332
|
|
NM_001278116.2(L1CAM):c.405C>A (p.Ala135=)
|
|
|
NM_001278116.2(L1CAM):c.405C>T (p.Ala135=)
|
|
|
NM_001278116.2(L1CAM):c.409A>C (p.Lys137Gln)
|
|
|
NM_001278116.2(L1CAM):c.433C>T (p.Pro145Ser)
|
|
|
NM_001278116.2(L1CAM):c.435C>A (p.Pro145=)
|
|
|
NM_001278116.2(L1CAM):c.435C>G (p.Pro145=)
|
|
|
NM_001278116.2(L1CAM):c.444G>T (p.Val148=)
|
|
|
NM_001278116.2(L1CAM):c.447G>A (p.Glu149=)
|
|
|
NM_001278116.2(L1CAM):c.450A>G (p.Glu150=)
|
|
|
NM_001278116.2(L1CAM):c.452G>C (p.Gly151Ala)
|
rs1064796291
|
|
NM_001278116.2(L1CAM):c.454G>A (p.Glu152Lys)
|
|
|
NM_001278116.2(L1CAM):c.473G>A (p.Cys158Tyr)
|
rs1603276234
|
|
NM_001278116.2(L1CAM):c.476_524-42delinsGAA
|
|
|
NM_001278116.2(L1CAM):c.484C>G (p.Pro162Ala)
|
|
|
NM_001278116.2(L1CAM):c.487A>G (p.Ser163Gly)
|
rs1603276226
|
|
NM_001278116.2(L1CAM):c.496C>G (p.Pro166Ala)
|
|
|
NM_001278116.2(L1CAM):c.510C>T (p.Tyr170=)
|
rs2148498993
|
|
NM_001278116.2(L1CAM):c.523+10G>A
|
|
|
NM_001278116.2(L1CAM):c.523+10G>T
|
rs199936251
|
|
NM_001278116.2(L1CAM):c.523+11G>A
|
|
|
NM_001278116.2(L1CAM):c.523+12C>T
|
rs886039406
|
|
NM_001278116.2(L1CAM):c.523+16C>A
|
|
|
NM_001278116.2(L1CAM):c.523+16C>T
|
rs1057523154
|
|
NM_001278116.2(L1CAM):c.523+17G>A
|
|
|
NM_001278116.2(L1CAM):c.523+7G>T
|
|
|
NM_001278116.2(L1CAM):c.523+9C>T
|
|
|
NM_001278116.2(L1CAM):c.524-14C>T
|
|
|
NM_001278116.2(L1CAM):c.524-15C>G
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NM_001278116.2(L1CAM):c.524-6C>T
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NM_001278116.2(L1CAM):c.524-8C>T
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NM_001278116.2(L1CAM):c.524-9C>A
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NM_001278116.2(L1CAM):c.546C>T (p.Asp182=)
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NM_001278116.2(L1CAM):c.547G>A (p.Glu183Lys)
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NM_001278116.2(L1CAM):c.550C>A (p.Arg184=)
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NM_001278116.2(L1CAM):c.550C>T (p.Arg184Trp)
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NM_001278116.2(L1CAM):c.551G>A (p.Arg184Gln)
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rs137852521
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NM_001278116.2(L1CAM):c.557C>T (p.Thr186Met)
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NM_001278116.2(L1CAM):c.558G>A (p.Thr186=)
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NM_001278116.2(L1CAM):c.558G>C (p.Thr186=)
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rs782773215
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NM_001278116.2(L1CAM):c.565C>T (p.Gln189Ter)
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NM_001278116.2(L1CAM):c.585T>C (p.Phe195=)
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NM_001278116.2(L1CAM):c.603C>G (p.Ser201=)
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rs782223025
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NM_001278116.2(L1CAM):c.60C>A (p.Ile20=)
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NM_001278116.2(L1CAM):c.616del (p.Asp206fs)
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rs2148498736
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NM_001278116.2(L1CAM):c.633C>T (p.Ala211=)
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NM_001278116.2(L1CAM):c.644_648dup (p.Arg217fs)
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rs2148498706
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NM_001278116.2(L1CAM):c.64A>G (p.Ile22Val)
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NM_001278116.2(L1CAM):c.669A>G (p.Glu223=)
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NM_001278116.2(L1CAM):c.66C>G (p.Ile22Met)
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rs1557094388
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NM_001278116.2(L1CAM):c.694+10A>T
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NM_001278116.2(L1CAM):c.694+11G>C
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NM_001278116.2(L1CAM):c.694+20_694+32del
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rs781871285
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NM_001278116.2(L1CAM):c.695-14C>A
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NM_001278116.2(L1CAM):c.695-19A>C
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NM_001278116.2(L1CAM):c.695-19_695-17dup
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NM_001278116.2(L1CAM):c.695-8C>T
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rs782636050
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NM_001278116.2(L1CAM):c.696C>G (p.Thr232=)
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NM_001278116.2(L1CAM):c.703A>G (p.Met235Val)
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NM_001278116.2(L1CAM):c.719C>T (p.Pro240Leu)
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rs137852526
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NM_001278116.2(L1CAM):c.722G>A (p.Arg241His)
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NM_001278116.2(L1CAM):c.726G>A (p.Leu242=)
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rs200813995
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NM_001278116.2(L1CAM):c.729C>T (p.Leu243=)
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NM_001278116.2(L1CAM):c.735C>T (p.Pro245=)
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NM_001278116.2(L1CAM):c.736A>G (p.Thr246Ala)
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NM_001278116.2(L1CAM):c.743C>A (p.Ser248Tyr)
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rs782163019
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NM_001278116.2(L1CAM):c.747C>T (p.Ser249=)
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NM_001278116.2(L1CAM):c.751C>G (p.His251Asp)
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NM_001278116.2(L1CAM):c.756G>C (p.Leu252=)
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NM_001278116.2(L1CAM):c.76+15G>A
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NM_001278116.2(L1CAM):c.76+9C>A
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NM_001278116.2(L1CAM):c.77-5C>T
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NM_001278116.2(L1CAM):c.771G>T (p.Gly257=)
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NM_001278116.2(L1CAM):c.774G>A (p.Gln258=)
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NM_001278116.2(L1CAM):c.777A>G (p.Pro259=)
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NM_001278116.2(L1CAM):c.78T>A (p.Tyr26Ter)
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NM_001278116.2(L1CAM):c.791G>T (p.Cys264Phe)
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rs137852518
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NM_001278116.2(L1CAM):c.795C>T (p.Ile265=)
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NM_001278116.2(L1CAM):c.798C>G (p.Ala266=)
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NM_001278116.2(L1CAM):c.799G>A (p.Glu267Lys)
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NM_001278116.2(L1CAM):c.804C>A (p.Gly268=)
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NM_001278116.2(L1CAM):c.806+10G>C
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NM_001278116.2(L1CAM):c.806+14C>A
|
rs782485382
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NM_001278116.2(L1CAM):c.806+14C>T
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NM_001278116.2(L1CAM):c.806+15C>T
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NM_001278116.2(L1CAM):c.806+16C>G
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NM_001278116.2(L1CAM):c.806+1G>C
|
rs1064793920
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NM_001278116.2(L1CAM):c.806+20G>A
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NM_001278116.2(L1CAM):c.806+20G>T
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NM_001278116.2(L1CAM):c.806+5G>A
|
rs878853979
|
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NM_001278116.2(L1CAM):c.806+6_806+54delinsAGGAGAGCGCTCAGGAAGCAGAAAGCTCAGGGAGGATGGAATGCGAAGGGAAAACCCCAGGGAAAAGGCGACACAGATCAAGA
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NM_001278116.2(L1CAM):c.806+8T>A
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NM_001278116.2(L1CAM):c.806T>C (p.Phe269Ser)
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NM_001278116.2(L1CAM):c.807-16T>G
|
rs2148498075
|
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NM_001278116.2(L1CAM):c.807-17C>T
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NM_001278116.2(L1CAM):c.807-4G>T
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NM_001278116.2(L1CAM):c.807-6G>A
|
rs886039405
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NM_001278116.2(L1CAM):c.807-7C>G
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NM_001278116.2(L1CAM):c.807-7C>T
|
rs782340959
|
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NM_001278116.2(L1CAM):c.809C>T (p.Pro270Leu)
|
rs2148498057
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NM_001278116.2(L1CAM):c.813G>A (p.Thr271=)
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NM_001278116.2(L1CAM):c.813G>C (p.Thr271=)
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NM_001278116.2(L1CAM):c.816C>T (p.Pro272=)
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NM_001278116.2(L1CAM):c.833G>A (p.Arg278His)
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NM_001278116.2(L1CAM):c.835C>G (p.Pro279Ala)
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NM_001278116.2(L1CAM):c.839G>C (p.Ser280Thr)
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NM_001278116.2(L1CAM):c.844C>T (p.Pro282Ser)
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NM_001278116.2(L1CAM):c.845C>A (p.Pro282His)
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NM_001278116.2(L1CAM):c.84A>G (p.Gly28=)
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NM_001278116.2(L1CAM):c.856G>A (p.Asp286Asn)
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NM_001278116.2(L1CAM):c.858C>T (p.Asp286=)
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NM_001278116.2(L1CAM):c.861T>C (p.Arg287=)
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NM_001278116.2(L1CAM):c.863T>C (p.Val288Ala)
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NM_001278116.2(L1CAM):c.876C>T (p.Asn292=)
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NM_001278116.2(L1CAM):c.882C>T (p.Asn294=)
|
rs2148497959
|
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NM_001278116.2(L1CAM):c.886A>G (p.Thr296Ala)
|
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NM_001278116.2(L1CAM):c.888C>T (p.Thr296=)
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NM_001278116.2(L1CAM):c.892C>G (p.Gln298Glu)
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NM_001278116.2(L1CAM):c.900G>A (p.Leu300=)
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NM_001278116.2(L1CAM):c.909C>A (p.Gly303=)
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NM_001278116.2(L1CAM):c.91+13G>A
|
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NM_001278116.2(L1CAM):c.91+16G>T
|
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NM_001278116.2(L1CAM):c.91+19A>G
|
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NM_001278116.2(L1CAM):c.91+7del
|
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NM_001278116.2(L1CAM):c.910G>T (p.Glu304Ter)
|
rs201311640
|
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NM_001278116.2(L1CAM):c.919_920delinsTT (p.Asp307Phe)
|
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NM_001278116.2(L1CAM):c.92-17C>G
|
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NM_001278116.2(L1CAM):c.92-19C>G
|
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NM_001278116.2(L1CAM):c.92-1G>A
|
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NM_001278116.2(L1CAM):c.92-9T>C
|
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NM_001278116.2(L1CAM):c.931C>T (p.Arg311Cys)
|
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NM_001278116.2(L1CAM):c.942C>T (p.Ala314=)
|
rs1569544829
|
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NM_001278116.2(L1CAM):c.958A>G (p.Ser320Gly)
|
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NM_001278116.2(L1CAM):c.962C>T (p.Ala321Val)
|
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NM_001278116.2(L1CAM):c.969T>C (p.His323=)
|
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NM_001278116.2(L1CAM):c.971C>T (p.Ala324Val)
|
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NM_001278116.2(L1CAM):c.972G>A (p.Ala324=)
|
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NM_001278116.2(L1CAM):c.981C>T (p.Val327=)
|
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NM_001278116.2(L1CAM):c.991+8C>A
|
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NM_001278116.2(L1CAM):c.992-10T>C
|
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NM_001278116.2(L1CAM):c.992-14C>T
|
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NM_001278116.2(L1CAM):c.992-5C>G
|
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NM_001278116.2(L1CAM):c.992-5C>T
|
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NM_001278116.2(L1CAM):c.992-9T>C
|
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NM_001278116.2(L1CAM):c.996C>T (p.Ala332=)
|
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NM_001278116.2(L1CAM):c.998C>G (p.Pro333Arg)
|
rs1064793162
|
|
NM_001278116.2(L1CAM):c.999G>A (p.Pro333=)
|
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