ClinVar Miner

List of variants in gene L1CAM reported as likely benign for Spastic paraplegia

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 504
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HGVS dbSNP gnomAD frequency
NM_001278116.2(L1CAM):c.964C>T (p.Arg322Trp) rs144692079 0.00048
NM_001278116.2(L1CAM):c.256G>A (p.Val86Met) rs149309725 0.00017
NM_001278116.2(L1CAM):c.1722G>A (p.Gly574=) rs2857756 0.00014
NM_001278116.2(L1CAM):c.649A>C (p.Arg217=) rs201204893 0.00014
NM_001278116.2(L1CAM):c.999G>T (p.Pro333=) rs200201490 0.00013
NM_001278116.2(L1CAM):c.1863C>T (p.Ser621=) rs782026679 0.00008
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.1107C>T (p.Asn369=) rs200768501 0.00006
NM_001278116.2(L1CAM):c.1851G>A (p.Arg617=) rs149252900 0.00005
NM_001278116.2(L1CAM):c.2872+9G>A rs398123363 0.00005
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.3531-13C>T rs372190403 0.00004
NM_001278116.2(L1CAM):c.367G>A (p.Ala123Thr) rs782752037 0.00004
NM_001278116.2(L1CAM):c.992-20G>A rs782085756 0.00004
NM_001278116.2(L1CAM):c.1670G>C (p.Gly557Ala) rs781845582 0.00003
NM_001278116.2(L1CAM):c.1781G>A (p.Ser594Asn) rs202107752 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.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.2057C>A (p.Thr686Asn) rs201371159 0.00002
NM_001278116.2(L1CAM):c.2565G>T (p.Glu855Asp) rs1486944844 0.00002
NM_001278116.2(L1CAM):c.3290G>A (p.Arg1097Gln) rs374569140 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.870C>T (p.Tyr290=) rs782720258 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.1304C>T (p.Thr435Met) rs371999853 0.00001
NM_001278116.2(L1CAM):c.1353C>T (p.Phe451=) rs1266106551 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.1899G>C (p.Val633=) rs781794652 0.00001
NM_001278116.2(L1CAM):c.2243T>C (p.Val748Ala) rs782331627 0.00001
NM_001278116.2(L1CAM):c.255C>T (p.Thr85=) rs201886318 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.3047-20G>A rs367891075 0.00001
NM_001278116.2(L1CAM):c.3118G>A (p.Glu1040Lys) rs1557090130 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.3457+15C>T rs1557089768 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.3711G>A (p.Ala1237=) rs782576787 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.651G>A (p.Arg217=) rs781814457 0.00001
NM_001278116.2(L1CAM):c.666G>A (p.Lys222=) rs782615469 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.1014G>A (p.Lys338=)
NM_001278116.2(L1CAM):c.102A>G (p.Pro34=)
NM_001278116.2(L1CAM):c.1074C>A (p.Gly358=)
NM_001278116.2(L1CAM):c.1101A>G (p.Arg367=)
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.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.1144T>G (p.Tyr382Asp)
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.1226G>A (p.Arg409Gln)
NM_001278116.2(L1CAM):c.1234C>G (p.Leu412Val)
NM_001278116.2(L1CAM):c.1267+13C>T
NM_001278116.2(L1CAM):c.1267+17C>T
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.1292C>T (p.Ala431Val)
NM_001278116.2(L1CAM):c.12G>A (p.Ala4=)
NM_001278116.2(L1CAM):c.1325G>A (p.Ser442Asn)
NM_001278116.2(L1CAM):c.1335C>T (p.Tyr445=) rs1603275513
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.1380-16G>A
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.1395G>A (p.Gly465=)
NM_001278116.2(L1CAM):c.1396A>G (p.Thr466Ala)
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.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.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.1491C>T (p.Cys497=)
NM_001278116.2(L1CAM):c.1506C>T (p.Asp502=)
NM_001278116.2(L1CAM):c.1546+10C>A
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.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.1567G>A (p.Gly523Arg)
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.1614G>A (p.Thr538=)
NM_001278116.2(L1CAM):c.1638C>A (p.Ser546=)
NM_001278116.2(L1CAM):c.1641G>A (p.Leu547=)
NM_001278116.2(L1CAM):c.1661G>A (p.Arg554His)
NM_001278116.2(L1CAM):c.1668C>T (p.Asp556=)
NM_001278116.2(L1CAM):c.1677C>A (p.Asp559Glu)
NM_001278116.2(L1CAM):c.1677C>T (p.Asp559=)
NM_001278116.2(L1CAM):c.1680C>G (p.Leu560=)
NM_001278116.2(L1CAM):c.1703+13A>T
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.1719T>C (p.Asp573=)
NM_001278116.2(L1CAM):c.1731C>T (p.Val577=)
NM_001278116.2(L1CAM):c.1751G>A (p.Ser584Asn)
NM_001278116.2(L1CAM):c.1767C>T (p.Tyr589=)
NM_001278116.2(L1CAM):c.1774G>A (p.Val592Met)
NM_001278116.2(L1CAM):c.1779C>T (p.Ala593=)
NM_001278116.2(L1CAM):c.1809G>A (p.Arg603=)
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.1829-6C>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.1850G>A (p.Arg617Gln)
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.1895G>A (p.Arg632His)
NM_001278116.2(L1CAM):c.1899G>T (p.Val633=)
NM_001278116.2(L1CAM):c.189C>T (p.Pro63=)
NM_001278116.2(L1CAM):c.190G>A (p.Glu64Lys)
NM_001278116.2(L1CAM):c.1927G>A (p.Ala643Thr)
NM_001278116.2(L1CAM):c.1929C>T (p.Ala643=)
NM_001278116.2(L1CAM):c.1939+20T>C
NM_001278116.2(L1CAM):c.1939+7G>A
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>T
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.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.2016G>A (p.Gln672=)
NM_001278116.2(L1CAM):c.2022T>C (p.Ser674=)
NM_001278116.2(L1CAM):c.2025C>T (p.Thr675=)
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.2094G>A (p.Gly698=)
NM_001278116.2(L1CAM):c.2095G>A (p.Glu699Lys)
NM_001278116.2(L1CAM):c.210G>A (p.Thr70=)
NM_001278116.2(L1CAM):c.2121G>A (p.Val707=)
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+5_2137+6insGGCAGGTGT rs398123361
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.2201C>T (p.Thr734Met)
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.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.2252G>A (p.Arg751His)
NM_001278116.2(L1CAM):c.2253C>T (p.Arg751=)
NM_001278116.2(L1CAM):c.225C>T (p.His75=)
NM_001278116.2(L1CAM):c.2274G>C (p.Gly758=) rs2071643
NM_001278116.2(L1CAM):c.2280A>G (p.Arg760=)
NM_001278116.2(L1CAM):c.2295G>A (p.Glu765=)
NM_001278116.2(L1CAM):c.2325G>A (p.Val775=)
NM_001278116.2(L1CAM):c.2340C>T (p.Thr780=) rs2064716807
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.2382G>C (p.Gln794His)
NM_001278116.2(L1CAM):c.2401C>G (p.Gln801Glu)
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.2475C>A (p.Asn825Lys)
NM_001278116.2(L1CAM):c.2485G>A (p.Val829Met)
NM_001278116.2(L1CAM):c.2501G>A (p.Arg834Gln)
NM_001278116.2(L1CAM):c.2515G>C (p.Ala839Pro)
NM_001278116.2(L1CAM):c.2537G>A (p.Arg846His) rs149737236
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.2548-10G>A
NM_001278116.2(L1CAM):c.2548-14G>A
NM_001278116.2(L1CAM):c.2548-4G>C
NM_001278116.2(L1CAM):c.2553G>C (p.Thr851=)
NM_001278116.2(L1CAM):c.2562G>A (p.Arg854=)
NM_001278116.2(L1CAM):c.2574G>A (p.Gln858=)
NM_001278116.2(L1CAM):c.2616G>A (p.Val872=)
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.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.2702G>A (p.Arg901Gln)
NM_001278116.2(L1CAM):c.2709G>C (p.Ser903=) rs146224667
NM_001278116.2(L1CAM):c.270C>G (p.Pro90=)
NM_001278116.2(L1CAM):c.273C>T (p.His91=)
NM_001278116.2(L1CAM):c.2742A>T (p.Pro914=)
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.2802G>A (p.Leu934=)
NM_001278116.2(L1CAM):c.2809C>T (p.Arg937Cys)
NM_001278116.2(L1CAM):c.2829C>T (p.Ser943=)
NM_001278116.2(L1CAM):c.2835C>T (p.Asn945=)
NM_001278116.2(L1CAM):c.2839G>A (p.Val947Met)
NM_001278116.2(L1CAM):c.2847C>T (p.Thr949=)
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+8C>T
NM_001278116.2(L1CAM):c.2873-13T>C
NM_001278116.2(L1CAM):c.2873-16_2873-15del
NM_001278116.2(L1CAM):c.2873-19C>T
NM_001278116.2(L1CAM):c.2873-4A>G
NM_001278116.2(L1CAM):c.2873-7C>A
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.2912G>A (p.Arg971Gln)
NM_001278116.2(L1CAM):c.2920G>A (p.Glu974Lys)
NM_001278116.2(L1CAM):c.2927G>A (p.Arg976Gln)
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.2985C>T (p.Ala995=)
NM_001278116.2(L1CAM):c.2988C>T (p.Thr996=) rs200863731
NM_001278116.2(L1CAM):c.3012C>T (p.Ala1004=)
NM_001278116.2(L1CAM):c.3020G>A (p.Arg1007Gln)
NM_001278116.2(L1CAM):c.3039C>T (p.Ala1013=)
NM_001278116.2(L1CAM):c.3046+20T>A rs2148493535
NM_001278116.2(L1CAM):c.3046+9G>A
NM_001278116.2(L1CAM):c.3048G>A (p.Gly1016=)
NM_001278116.2(L1CAM):c.3048G>C (p.Gly1016=)
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.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+7G>A
NM_001278116.2(L1CAM):c.3167-13C>T
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.3227C>T (p.Thr1076Met)
NM_001278116.2(L1CAM):c.3238C>T (p.Leu1080=) rs1184309171
NM_001278116.2(L1CAM):c.3254A>G (p.Asp1085Gly)
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.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.3322+14G>A
NM_001278116.2(L1CAM):c.3322+7C>T
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.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.3373G>A (p.Gly1125Ser)
NM_001278116.2(L1CAM):c.337C>T (p.Arg113Cys)
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.3408C>T (p.Val1136=)
NM_001278116.2(L1CAM):c.3414C>T (p.Leu1138=)
NM_001278116.2(L1CAM):c.3432G>A (p.Lys1144=)
NM_001278116.2(L1CAM):c.3435C>A (p.Arg1145=)
NM_001278116.2(L1CAM):c.3457+12G>A
NM_001278116.2(L1CAM):c.3457+13C>T
NM_001278116.2(L1CAM):c.3457+19G>A
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.3522C>G (p.Gly1174=)
NM_001278116.2(L1CAM):c.3530+11G>A
NM_001278116.2(L1CAM):c.3530+17G>A
NM_001278116.2(L1CAM):c.3530+18T>C
NM_001278116.2(L1CAM):c.3530+7C>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.3543-16C>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.3591G>A (p.Gly1197=) rs2064675485
NM_001278116.2(L1CAM):c.3606G>A (p.Leu1202=)
NM_001278116.2(L1CAM):c.3618C>T (p.Asp1206=)
NM_001278116.2(L1CAM):c.3627C>T (p.Ala1209=)
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.3663G>A (p.Glu1221=)
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.3708G>A (p.Glu1236=)
NM_001278116.2(L1CAM):c.370A>G (p.Met124Val)
NM_001278116.2(L1CAM):c.3744C>T (p.Ser1248=)
NM_001278116.2(L1CAM):c.3759C>T (p.Ala1253=)
NM_001278116.2(L1CAM):c.3766C>T (p.Leu1256=)
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.401-15G>A
NM_001278116.2(L1CAM):c.401-17C>T
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.510C>T (p.Tyr170=) rs2148498993
NM_001278116.2(L1CAM):c.523+10G>T rs199936251
NM_001278116.2(L1CAM):c.523+16C>A
NM_001278116.2(L1CAM):c.523+16C>T rs1057523154
NM_001278116.2(L1CAM):c.523+7G>T
NM_001278116.2(L1CAM):c.524-14C>T
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.550C>A (p.Arg184=)
NM_001278116.2(L1CAM):c.558G>A (p.Thr186=)
NM_001278116.2(L1CAM):c.558G>C (p.Thr186=) rs782773215
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.633C>T (p.Ala211=)
NM_001278116.2(L1CAM):c.669A>G (p.Glu223=)
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.726G>A (p.Leu242=) rs200813995
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.76+15G>A
NM_001278116.2(L1CAM):c.76+9C>A
NM_001278116.2(L1CAM):c.77-5C>T
NM_001278116.2(L1CAM):c.774G>A (p.Gln258=)
NM_001278116.2(L1CAM):c.777A>G (p.Pro259=)
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+15C>T
NM_001278116.2(L1CAM):c.806+16C>G
NM_001278116.2(L1CAM):c.806+20G>A
NM_001278116.2(L1CAM):c.806+20G>T
NM_001278116.2(L1CAM):c.806+8T>A
NM_001278116.2(L1CAM):c.807-16T>G rs2148498075
NM_001278116.2(L1CAM):c.807-17C>T
NM_001278116.2(L1CAM):c.807-7C>G
NM_001278116.2(L1CAM):c.807-7C>T rs782340959
NM_001278116.2(L1CAM):c.813G>C (p.Thr271=)
NM_001278116.2(L1CAM):c.816C>T (p.Pro272=)
NM_001278116.2(L1CAM):c.844C>T (p.Pro282Ser)
NM_001278116.2(L1CAM):c.84A>G (p.Gly28=)
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.92-17C>G
NM_001278116.2(L1CAM):c.92-19C>G
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.969T>C (p.His323=)
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.992-9T>C
NM_001278116.2(L1CAM):c.996C>T (p.Ala332=)
NM_001278116.2(L1CAM):c.999G>A (p.Pro333=)

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