ClinVar Miner

List of variants in gene L1CAM reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 944
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HGVS dbSNP gnomAD frequency
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
NM_001278116.2(L1CAM):c.524-6C>T
NM_001278116.2(L1CAM):c.524-8C>T
NM_001278116.2(L1CAM):c.524-9C>A
NM_001278116.2(L1CAM):c.546C>T (p.Asp182=)
NM_001278116.2(L1CAM):c.547G>A (p.Glu183Lys)
NM_001278116.2(L1CAM):c.550C>A (p.Arg184=)
NM_001278116.2(L1CAM):c.550C>T (p.Arg184Trp)
NM_001278116.2(L1CAM):c.551G>A (p.Arg184Gln) rs137852521
NM_001278116.2(L1CAM):c.557C>T (p.Thr186Met)
NM_001278116.2(L1CAM):c.558G>A (p.Thr186=)
NM_001278116.2(L1CAM):c.558G>C (p.Thr186=) rs782773215
NM_001278116.2(L1CAM):c.565C>T (p.Gln189Ter)
NM_001278116.2(L1CAM):c.585T>C (p.Phe195=)
NM_001278116.2(L1CAM):c.603C>G (p.Ser201=) rs782223025
NM_001278116.2(L1CAM):c.60C>A (p.Ile20=)
NM_001278116.2(L1CAM):c.616del (p.Asp206fs) rs2148498736
NM_001278116.2(L1CAM):c.633C>T (p.Ala211=)
NM_001278116.2(L1CAM):c.644_648dup (p.Arg217fs) rs2148498706
NM_001278116.2(L1CAM):c.64A>G (p.Ile22Val)
NM_001278116.2(L1CAM):c.669A>G (p.Glu223=)
NM_001278116.2(L1CAM):c.66C>G (p.Ile22Met) rs1557094388
NM_001278116.2(L1CAM):c.694+10A>T
NM_001278116.2(L1CAM):c.694+11G>C
NM_001278116.2(L1CAM):c.694+20_694+32del rs781871285
NM_001278116.2(L1CAM):c.695-14C>A
NM_001278116.2(L1CAM):c.695-19A>C
NM_001278116.2(L1CAM):c.695-19_695-17dup
NM_001278116.2(L1CAM):c.695-8C>T rs782636050
NM_001278116.2(L1CAM):c.696C>G (p.Thr232=)
NM_001278116.2(L1CAM):c.703A>G (p.Met235Val)
NM_001278116.2(L1CAM):c.719C>T (p.Pro240Leu) rs137852526
NM_001278116.2(L1CAM):c.722G>A (p.Arg241His)
NM_001278116.2(L1CAM):c.726G>A (p.Leu242=) rs200813995
NM_001278116.2(L1CAM):c.729C>T (p.Leu243=)
NM_001278116.2(L1CAM):c.735C>T (p.Pro245=)
NM_001278116.2(L1CAM):c.736A>G (p.Thr246Ala)
NM_001278116.2(L1CAM):c.743C>A (p.Ser248Tyr) rs782163019
NM_001278116.2(L1CAM):c.747C>T (p.Ser249=)
NM_001278116.2(L1CAM):c.751C>G (p.His251Asp)
NM_001278116.2(L1CAM):c.756G>C (p.Leu252=)
NM_001278116.2(L1CAM):c.76+15G>A
NM_001278116.2(L1CAM):c.76+9C>A
NM_001278116.2(L1CAM):c.77-5C>T
NM_001278116.2(L1CAM):c.771G>T (p.Gly257=)
NM_001278116.2(L1CAM):c.774G>A (p.Gln258=)
NM_001278116.2(L1CAM):c.777A>G (p.Pro259=)
NM_001278116.2(L1CAM):c.78T>A (p.Tyr26Ter)
NM_001278116.2(L1CAM):c.791G>T (p.Cys264Phe) rs137852518
NM_001278116.2(L1CAM):c.795C>T (p.Ile265=)
NM_001278116.2(L1CAM):c.798C>G (p.Ala266=)
NM_001278116.2(L1CAM):c.799G>A (p.Glu267Lys)
NM_001278116.2(L1CAM):c.804C>A (p.Gly268=)
NM_001278116.2(L1CAM):c.806+10G>C
NM_001278116.2(L1CAM):c.806+14C>A rs782485382
NM_001278116.2(L1CAM):c.806+14C>T
NM_001278116.2(L1CAM):c.806+15C>T
NM_001278116.2(L1CAM):c.806+16C>G
NM_001278116.2(L1CAM):c.806+1G>C rs1064793920
NM_001278116.2(L1CAM):c.806+20G>A
NM_001278116.2(L1CAM):c.806+20G>T
NM_001278116.2(L1CAM):c.806+5G>A rs878853979
NM_001278116.2(L1CAM):c.806+6_806+54delinsAGGAGAGCGCTCAGGAAGCAGAAAGCTCAGGGAGGATGGAATGCGAAGGGAAAACCCCAGGGAAAAGGCGACACAGATCAAGA
NM_001278116.2(L1CAM):c.806+8T>A
NM_001278116.2(L1CAM):c.806T>C (p.Phe269Ser)
NM_001278116.2(L1CAM):c.807-16T>G rs2148498075
NM_001278116.2(L1CAM):c.807-17C>T
NM_001278116.2(L1CAM):c.807-4G>T
NM_001278116.2(L1CAM):c.807-6G>A rs886039405
NM_001278116.2(L1CAM):c.807-7C>G
NM_001278116.2(L1CAM):c.807-7C>T rs782340959
NM_001278116.2(L1CAM):c.809C>T (p.Pro270Leu) rs2148498057
NM_001278116.2(L1CAM):c.813G>A (p.Thr271=)
NM_001278116.2(L1CAM):c.813G>C (p.Thr271=)
NM_001278116.2(L1CAM):c.816C>T (p.Pro272=)
NM_001278116.2(L1CAM):c.833G>A (p.Arg278His)
NM_001278116.2(L1CAM):c.835C>G (p.Pro279Ala)
NM_001278116.2(L1CAM):c.839G>C (p.Ser280Thr)
NM_001278116.2(L1CAM):c.844C>T (p.Pro282Ser)
NM_001278116.2(L1CAM):c.845C>A (p.Pro282His)
NM_001278116.2(L1CAM):c.84A>G (p.Gly28=)
NM_001278116.2(L1CAM):c.856G>A (p.Asp286Asn)
NM_001278116.2(L1CAM):c.858C>T (p.Asp286=)
NM_001278116.2(L1CAM):c.861T>C (p.Arg287=)
NM_001278116.2(L1CAM):c.863T>C (p.Val288Ala)
NM_001278116.2(L1CAM):c.876C>T (p.Asn292=)
NM_001278116.2(L1CAM):c.882C>T (p.Asn294=) rs2148497959
NM_001278116.2(L1CAM):c.886A>G (p.Thr296Ala)
NM_001278116.2(L1CAM):c.888C>T (p.Thr296=)
NM_001278116.2(L1CAM):c.892C>G (p.Gln298Glu)
NM_001278116.2(L1CAM):c.900G>A (p.Leu300=)
NM_001278116.2(L1CAM):c.909C>A (p.Gly303=)
NM_001278116.2(L1CAM):c.91+13G>A
NM_001278116.2(L1CAM):c.91+16G>T
NM_001278116.2(L1CAM):c.91+19A>G
NM_001278116.2(L1CAM):c.91+7del
NM_001278116.2(L1CAM):c.910G>T (p.Glu304Ter) rs201311640
NM_001278116.2(L1CAM):c.919_920delinsTT (p.Asp307Phe)
NM_001278116.2(L1CAM):c.92-17C>G
NM_001278116.2(L1CAM):c.92-19C>G
NM_001278116.2(L1CAM):c.92-1G>A
NM_001278116.2(L1CAM):c.92-9T>C
NM_001278116.2(L1CAM):c.931C>T (p.Arg311Cys)
NM_001278116.2(L1CAM):c.942C>T (p.Ala314=) rs1569544829
NM_001278116.2(L1CAM):c.958A>G (p.Ser320Gly)
NM_001278116.2(L1CAM):c.962C>T (p.Ala321Val)
NM_001278116.2(L1CAM):c.969T>C (p.His323=)
NM_001278116.2(L1CAM):c.971C>T (p.Ala324Val)
NM_001278116.2(L1CAM):c.972G>A (p.Ala324=)
NM_001278116.2(L1CAM):c.981C>T (p.Val327=)
NM_001278116.2(L1CAM):c.991+8C>A
NM_001278116.2(L1CAM):c.992-10T>C
NM_001278116.2(L1CAM):c.992-14C>T
NM_001278116.2(L1CAM):c.992-5C>G
NM_001278116.2(L1CAM):c.992-5C>T
NM_001278116.2(L1CAM):c.992-9T>C
NM_001278116.2(L1CAM):c.996C>T (p.Ala332=)
NM_001278116.2(L1CAM):c.998C>G (p.Pro333Arg) rs1064793162
NM_001278116.2(L1CAM):c.999G>A (p.Pro333=)

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