NM_001278116.2(L1CAM):c.2254G>A (p.Val752Met)
|
rs137852525
|
0.00001
|
NM_001278116.2(L1CAM):c.3496C>T (p.Arg1166Ter)
|
rs1418885000
|
0.00001
|
NM_001278116.2(L1CAM):c.925G>A (p.Glu309Lys)
|
rs367665974
|
0.00001
|
GRCh37/hg19 Xq28(chrX:153126942-153141190)x0
|
|
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GRCh37/hg19 Xq28(chrX:153126942-153141972)x0
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|
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GRCh37/hg19 Xq28(chrX:153126942-153143271)x1
|
|
|
L1CAM, 1.3-KB DUP
|
|
|
NC_000023.10:g.(?_153128098)_(153141311_?)del
|
|
|
NC_000023.10:g.(?_153129318)_(153131294_?)del
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|
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NC_000023.10:g.(?_153129338)_(153131274_?)del
|
|
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NC_000023.10:g.(?_153132791)_(153141311_?)del
|
|
|
NC_000023.10:g.(?_153135069)_(153135421_?)del
|
|
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NC_000023.10:g.(?_153136492)_(153138172_?)del
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|
|
NM_001278116.2(L1CAM):c.1028_1032dup (p.Gly345fs)
|
rs1557092418
|
|
NM_001278116.2(L1CAM):c.1108G>A (p.Gly370Arg)
|
rs137852524
|
|
NM_001278116.2(L1CAM):c.1146C>G (p.Tyr382Ter)
|
rs886041704
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|
NM_001278116.2(L1CAM):c.1210del (p.Cys404fs)
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|
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NM_001278116.2(L1CAM):c.1267+1G>A
|
rs1557092247
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NM_001278116.2(L1CAM):c.1267C>T (p.Gln423Ter)
|
rs1557092248
|
|
NM_001278116.2(L1CAM):c.1268-1G>A
|
rs1603275538
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|
NM_001278116.2(L1CAM):c.1354G>A (p.Gly452Arg)
|
rs137852520
|
|
NM_001278116.2(L1CAM):c.1365del (p.Ser457fs)
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|
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NM_001278116.2(L1CAM):c.1379G>A (p.Trp460Ter)
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rs1557092042
|
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NM_001278116.2(L1CAM):c.1408C>T (p.Gln470Ter)
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rs1064793163
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NM_001278116.2(L1CAM):c.1417C>T (p.Arg473Cys)
|
rs886039408
|
|
NM_001278116.2(L1CAM):c.1453C>T (p.Arg485Ter)
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rs886039407
|
|
NM_001278116.2(L1CAM):c.1485C>G (p.Tyr495Ter)
|
rs1131691964
|
|
NM_001278116.2(L1CAM):c.1528del (p.Ala510fs)
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|
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NM_001278116.2(L1CAM):c.1603del (p.Arg534_Val535insTer)
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NM_001278116.2(L1CAM):c.1672C>T (p.Arg558Ter)
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rs1557091773
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NM_001278116.2(L1CAM):c.1703+5G>A
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|
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NM_001278116.2(L1CAM):c.1704-1G>A
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rs1557091678
|
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NM_001278116.2(L1CAM):c.1767C>A (p.Tyr589Ter)
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rs377470679
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NM_001278116.2(L1CAM):c.177del (p.Ser60fs)
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rs886039404
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NM_001278116.2(L1CAM):c.1780del (p.Ser594fs)
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rs1557091629
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NM_001278116.2(L1CAM):c.1792G>A (p.Asp598Asn)
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rs137852519
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NM_001278116.2(L1CAM):c.1823del (p.Val608fs)
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rs1603275195
|
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NM_001278116.2(L1CAM):c.1828+1G>A
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rs2148496168
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NM_001278116.2(L1CAM):c.1939+1G>A
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rs1064793801
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NM_001278116.2(L1CAM):c.1939+5G>A
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rs879253716
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NM_001278116.2(L1CAM):c.1939A>T (p.Lys647Ter)
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rs863224494
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NM_001278116.2(L1CAM):c.1983del (p.Lys661fs)
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rs1557091377
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NM_001278116.2(L1CAM):c.2014C>T (p.Gln672Ter)
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rs1569544723
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NM_001278116.2(L1CAM):c.2092G>A (p.Gly698Arg)
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rs886039409
|
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NM_001278116.2(L1CAM):c.2209-42_2229del
|
rs1557091079
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NM_001278116.2(L1CAM):c.2219G>A (p.Trp740Ter)
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|
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NM_001278116.2(L1CAM):c.2278C>T (p.Arg760Ter)
|
rs797045673
|
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NM_001278116.2(L1CAM):c.2296C>T (p.Gln766Ter)
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|
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NM_001278116.2(L1CAM):c.2351A>G (p.Tyr784Cys)
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rs797045674
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NM_001278116.2(L1CAM):c.2380C>T (p.Gln794Ter)
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rs875989884
|
|
NM_001278116.2(L1CAM):c.23del (p.Val8fs)
|
rs398123362
|
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NM_001278116.2(L1CAM):c.2421_2422del (p.Gly808fs)
|
rs879253715
|
|
NM_001278116.2(L1CAM):c.2431+5G>A
|
rs1557090943
|
|
NM_001278116.2(L1CAM):c.2432-19A>C
|
rs879253713
|
|
NM_001278116.2(L1CAM):c.2433C>A (p.Tyr811Ter)
|
rs782553641
|
|
NM_001278116.2(L1CAM):c.2438dup (p.Ala814fs)
|
rs1131691666
|
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NM_001278116.2(L1CAM):c.2440dup (p.Ala814fs)
|
rs1603274424
|
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NM_001278116.2(L1CAM):c.2539G>T (p.Gly847Ter)
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|
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NM_001278116.2(L1CAM):c.2544C>A (p.Tyr848Ter)
|
rs886039410
|
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NM_001278116.2(L1CAM):c.2547+1G>A
|
rs886039411
|
|
NM_001278116.2(L1CAM):c.2559G>A (p.Trp853Ter)
|
rs2064704974
|
|
NM_001278116.2(L1CAM):c.2593_2594del (p.His865fs)
|
rs1603274308
|
|
NM_001278116.2(L1CAM):c.2654T>A (p.Leu885Ter)
|
rs2148494096
|
|
NM_001278116.2(L1CAM):c.266C>A (p.Ser89Ter)
|
rs782178366
|
|
NM_001278116.2(L1CAM):c.26G>A (p.Trp9Ter)
|
rs1557094409
|
|
NM_001278116.2(L1CAM):c.2701C>T (p.Arg901Ter)
|
rs2148494055
|
|
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.2872+1G>A
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|
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NM_001278116.2(L1CAM):c.2872+1G>C
|
rs2148493825
|
|
NM_001278116.2(L1CAM):c.2879del (p.Glu960fs)
|
rs398123364
|
|
NM_001278116.2(L1CAM):c.2893C>T (p.Gln965Ter)
|
|
|
NM_001278116.2(L1CAM):c.2918_2919del (p.Pro973fs)
|
rs1557090314
|
|
NM_001278116.2(L1CAM):c.2920G>T (p.Glu974Ter)
|
rs782712766
|
|
NM_001278116.2(L1CAM):c.2974C>T (p.Gln992Ter)
|
rs879253717
|
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NM_001278116.2(L1CAM):c.3046+1G>A
|
rs1557090220
|
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NM_001278116.2(L1CAM):c.3053C>G (p.Ser1018Ter)
|
rs1557090161
|
|
NM_001278116.2(L1CAM):c.3071C>G (p.Ser1024Ter)
|
rs1557090143
|
|
NM_001278116.2(L1CAM):c.3166+1G>A
|
rs1603273984
|
|
NM_001278116.2(L1CAM):c.3166+1G>T
|
rs1603273984
|
|
NM_001278116.2(L1CAM):c.3201T>G (p.Tyr1067Ter)
|
rs1569544629
|
|
NM_001278116.2(L1CAM):c.3214C>T (p.Gln1072Ter)
|
|
|
NM_001278116.2(L1CAM):c.3234G>A (p.Trp1078Ter)
|
rs2148493243
|
|
NM_001278116.2(L1CAM):c.3368del (p.Phe1123fs)
|
|
|
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.3458-1G>C
|
rs879253724
|
|
NM_001278116.2(L1CAM):c.3489_3490del (p.Glu1164fs)
|
rs879253714
|
|
NM_001278116.2(L1CAM):c.3531-12G>A
|
rs111247323
|
|
NM_001278116.2(L1CAM):c.3581C>T (p.Ser1194Leu)
|
rs137852522
|
|
NM_001278116.2(L1CAM):c.3638del (p.Gly1213fs)
|
|
|
NM_001278116.2(L1CAM):c.3671C>T (p.Ser1224Leu)
|
rs2148491960
|
|
NM_001278116.2(L1CAM):c.400+5G>A
|
rs1569544908
|
|
NM_001278116.2(L1CAM):c.48del (p.Cys17fs)
|
rs1603277417
|
|
NM_001278116.2(L1CAM):c.502del (p.Arg168fs)
|
rs1557092994
|
|
NM_001278116.2(L1CAM):c.523+12C>T
|
rs886039406
|
|
NM_001278116.2(L1CAM):c.536T>G (p.Ile179Ser)
|
rs137852523
|
|
NM_001278116.2(L1CAM):c.550C>T (p.Arg184Trp)
|
|
|
NM_001278116.2(L1CAM):c.551G>A (p.Arg184Gln)
|
rs137852521
|
|
NM_001278116.2(L1CAM):c.565C>T (p.Gln189Ter)
|
|
|
NM_001278116.2(L1CAM):c.604G>A (p.Asp202Asn)
|
rs1603276146
|
|
NM_001278116.2(L1CAM):c.616del (p.Asp206fs)
|
rs2148498736
|
|
NM_001278116.2(L1CAM):c.630C>A (p.His210Gln)
|
rs28933683
|
|
NM_001278116.2(L1CAM):c.644_648dup (p.Arg217fs)
|
rs2148498706
|
|
NM_001278116.2(L1CAM):c.719C>T (p.Pro240Leu)
|
rs137852526
|
|
NM_001278116.2(L1CAM):c.749del (p.Ser250fs)
|
rs1603276024
|
|
NM_001278116.2(L1CAM):c.78T>A (p.Tyr26Ter)
|
|
|
NM_001278116.2(L1CAM):c.791G>A (p.Cys264Tyr)
|
rs137852518
|
|
NM_001278116.2(L1CAM):c.791G>T (p.Cys264Phe)
|
rs137852518
|
|
NM_001278116.2(L1CAM):c.806+1G>C
|
rs1064793920
|
|
NM_001278116.2(L1CAM):c.807-6G>A
|
rs886039405
|
|
NM_001278116.2(L1CAM):c.910G>T (p.Glu304Ter)
|
rs201311640
|
|
NM_001278116.2(L1CAM):c.924C>T (p.Gly308=)
|
rs797044787
|
|
NM_001278116.2(L1CAM):c.991+1G>A
|
|
|
NM_001278116.2(L1CAM):c.992-2A>G
|
rs878853099
|
|
NM_001278116.2(L1CAM):c.998C>G (p.Pro333Arg)
|
rs1064793162
|
|