NM_001278116.2(L1CAM):c.-109+1811dup
|
rs77883713
|
0.99995
|
NM_001278116.2(L1CAM):c.-109+95_-109+96insGCCG
|
rs58566947
|
0.99995
|
NM_001278116.2(L1CAM):c.2657G>A (p.Arg886Gln)
|
rs142603269
|
0.00032
|
NM_001278116.2(L1CAM):c.113C>T (p.Thr38Met)
|
rs201151358
|
0.00027
|
NM_001278116.2(L1CAM):c.649A>C (p.Arg217=)
|
rs201204893
|
0.00014
|
NM_001278116.2(L1CAM):c.385C>T (p.Arg129Trp)
|
rs201978087
|
0.00003
|
NM_001278116.2(L1CAM):c.2254G>A (p.Val752Met)
|
rs137852525
|
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.3654G>C (p.Gln1218His)
|
rs1369743518
|
0.00001
|
NM_001278116.2(L1CAM):c.925G>A (p.Glu309Lys)
|
rs367665974
|
0.00001
|
L1CAM, 1.3-KB DUP
|
|
|
NM_001278116.2(L1CAM):c.-109+234del
|
rs199975679
|
|
NM_001278116.2(L1CAM):c.-109+238_-109+239insGG
|
rs143464562
|
|
NM_001278116.2(L1CAM):c.1100G>A (p.Arg367Lys)
|
rs2064751060
|
|
NM_001278116.2(L1CAM):c.1108G>A (p.Gly370Arg)
|
rs137852524
|
|
NM_001278116.2(L1CAM):c.1222A>G (p.Asn408Asp)
|
rs2064747653
|
|
NM_001278116.2(L1CAM):c.1231G>T (p.Gly411Trp)
|
|
|
NM_001278116.2(L1CAM):c.1267+1G>A
|
rs1557092247
|
|
NM_001278116.2(L1CAM):c.1268-1G>A
|
rs1603275538
|
|
NM_001278116.2(L1CAM):c.1354G>A (p.Gly452Arg)
|
rs137852520
|
|
NM_001278116.2(L1CAM):c.139_140del (p.Val47fs)
|
rs2064782292
|
|
NM_001278116.2(L1CAM):c.1408C>T (p.Gln470Ter)
|
rs1064793163
|
|
NM_001278116.2(L1CAM):c.1417C>T (p.Arg473Cys)
|
rs886039408
|
|
NM_001278116.2(L1CAM):c.1430A>C (p.Tyr477Ser)
|
|
|
NM_001278116.2(L1CAM):c.1453C>T (p.Arg485Ter)
|
rs886039407
|
|
NM_001278116.2(L1CAM):c.1565_1566del (p.Gln522fs)
|
|
|
NM_001278116.2(L1CAM):c.1570C>T (p.Pro524Ser)
|
rs1569544754
|
|
NM_001278116.2(L1CAM):c.1615T>G (p.Cys539Gly)
|
rs886041102
|
|
NM_001278116.2(L1CAM):c.1672C>T (p.Arg558Ter)
|
rs1557091773
|
|
NM_001278116.2(L1CAM):c.1703+5G>A
|
|
|
NM_001278116.2(L1CAM):c.1792G>A (p.Asp598Asn)
|
rs137852519
|
|
NM_001278116.2(L1CAM):c.1829-2A>G
|
|
|
NM_001278116.2(L1CAM):c.1939+5G>A
|
rs879253716
|
|
NM_001278116.2(L1CAM):c.2269C>T (p.Gln757Ter)
|
|
|
NM_001278116.2(L1CAM):c.2278C>T (p.Arg760Ter)
|
rs797045673
|
|
NM_001278116.2(L1CAM):c.2296C>T (p.Gln766Ter)
|
|
|
NM_001278116.2(L1CAM):c.2376C>G (p.Asn792Lys)
|
|
|
NM_001278116.2(L1CAM):c.2380C>T (p.Gln794Ter)
|
rs875989884
|
|
NM_001278116.2(L1CAM):c.2399C>A (p.Pro800His)
|
rs2148495027
|
|
NM_001278116.2(L1CAM):c.2421_2422del (p.Gly808fs)
|
rs879253715
|
|
NM_001278116.2(L1CAM):c.2432-19A>C
|
rs879253713
|
|
NM_001278116.2(L1CAM):c.2432-1G>A
|
|
|
NM_001278116.2(L1CAM):c.2434C>G (p.Pro812Ala)
|
|
|
NM_001278116.2(L1CAM):c.2440dup (p.Ala814fs)
|
rs1603274424
|
|
NM_001278116.2(L1CAM):c.2516_2517delinsAT (p.Ala839Asp)
|
rs2148494375
|
|
NM_001278116.2(L1CAM):c.2555del (p.Tyr852fs)
|
|
|
NM_001278116.2(L1CAM):c.2596_2597del (p.Ile866fs)
|
rs2148494128
|
|
NM_001278116.2(L1CAM):c.2599C>T (p.His867Tyr)
|
rs2064704352
|
|
NM_001278116.2(L1CAM):c.2712del (p.Ala906fs)
|
rs2064703218
|
|
NM_001278116.2(L1CAM):c.2848_2849del (p.Gly950fs)
|
|
|
NM_001278116.2(L1CAM):c.2920G>T (p.Glu974Ter)
|
rs782712766
|
|
NM_001278116.2(L1CAM):c.3046+1G>A
|
rs1557090220
|
|
NM_001278116.2(L1CAM):c.3166+1G>A
|
rs1603273984
|
|
NM_001278116.2(L1CAM):c.3233G>A (p.Trp1078Ter)
|
|
|
NM_001278116.2(L1CAM):c.3234G>A (p.Trp1078Ter)
|
rs2148493243
|
|
NM_001278116.2(L1CAM):c.3241C>T (p.Gln1081Ter)
|
rs2064692244
|
|
NM_001278116.2(L1CAM):c.32_33del (p.Leu11fs)
|
rs2064809181
|
|
NM_001278116.2(L1CAM):c.3458-1G>C
|
rs879253724
|
|
NM_001278116.2(L1CAM):c.3489_3490del (p.Glu1164fs)
|
rs879253714
|
|
NM_001278116.2(L1CAM):c.3500dup (p.Met1168fs)
|
|
|
NM_001278116.2(L1CAM):c.3530+2T>C
|
|
|
NM_001278116.2(L1CAM):c.3531-1G>A
|
rs2148492410
|
|
NM_001278116.2(L1CAM):c.3581C>T (p.Ser1194Leu)
|
rs137852522
|
|
NM_001278116.2(L1CAM):c.3589G>A (p.Gly1197Arg)
|
|
|
NM_001278116.2(L1CAM):c.3638del (p.Gly1213fs)
|
|
|
NM_001278116.2(L1CAM):c.3754C>T (p.Pro1252Ser)
|
rs2064673421
|
|
NM_001278116.2(L1CAM):c.3755C>A (p.Pro1252His)
|
rs2148491854
|
|
NM_001278116.2(L1CAM):c.3G>A (p.Met1Ile)
|
rs1603277433
|
|
NM_001278116.2(L1CAM):c.523+12C>T
|
rs886039406
|
|
NM_001278116.2(L1CAM):c.536T>G (p.Ile179Ser)
|
rs137852523
|
|
NM_001278116.2(L1CAM):c.551G>A (p.Arg184Gln)
|
rs137852521
|
|
NM_001278116.2(L1CAM):c.574_582dup (p.Tyr194_Phe195insAsnLeuTyr)
|
rs2148498765
|
|
NM_001278116.2(L1CAM):c.604G>A (p.Asp202Asn)
|
rs1603276146
|
|
NM_001278116.2(L1CAM):c.630C>A (p.His210Gln)
|
rs28933683
|
|
NM_001278116.2(L1CAM):c.649A>G (p.Arg217Gly)
|
rs201204893
|
|
NM_001278116.2(L1CAM):c.704T>C (p.Met235Thr)
|
rs1557092782
|
|
NM_001278116.2(L1CAM):c.719C>T (p.Pro240Leu)
|
rs137852526
|
|
NM_001278116.2(L1CAM):c.743C>A (p.Ser248Tyr)
|
rs782163019
|
|
NM_001278116.2(L1CAM):c.749del (p.Ser250fs)
|
rs1603276024
|
|
NM_001278116.2(L1CAM):c.791G>A (p.Cys264Tyr)
|
rs137852518
|
|
NM_001278116.2(L1CAM):c.807-6G>A
|
rs886039405
|
|
NM_001278116.2(L1CAM):c.924C>T (p.Gly308=)
|
rs797044787
|
|