NM_001278116.2(L1CAM):c.2254G>A (p.Val752Met)
|
rs137852525
|
0.00001
|
NM_001278116.2(L1CAM):c.925G>A (p.Glu309Lys)
|
rs367665974
|
0.00001
|
L1CAM, 1.3-KB DUP
|
|
|
NM_001278116.2(L1CAM):c.1108G>A (p.Gly370Arg)
|
rs137852524
|
|
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.1408C>T (p.Gln470Ter)
|
rs1064793163
|
|
NM_001278116.2(L1CAM):c.1417C>T (p.Arg473Cys)
|
rs886039408
|
|
NM_001278116.2(L1CAM):c.1453C>T (p.Arg485Ter)
|
rs886039407
|
|
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.1939+5G>A
|
rs879253716
|
|
NM_001278116.2(L1CAM):c.2278C>T (p.Arg760Ter)
|
rs797045673
|
|
NM_001278116.2(L1CAM):c.2296C>T (p.Gln766Ter)
|
|
|
NM_001278116.2(L1CAM):c.2380C>T (p.Gln794Ter)
|
rs875989884
|
|
NM_001278116.2(L1CAM):c.2421_2422del (p.Gly808fs)
|
rs879253715
|
|
NM_001278116.2(L1CAM):c.2432-19A>C
|
rs879253713
|
|
NM_001278116.2(L1CAM):c.2440dup (p.Ala814fs)
|
rs1603274424
|
|
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.3234G>A (p.Trp1078Ter)
|
rs2148493243
|
|
NM_001278116.2(L1CAM):c.3458-1G>C
|
rs879253724
|
|
NM_001278116.2(L1CAM):c.3489_3490del (p.Glu1164fs)
|
rs879253714
|
|
NM_001278116.2(L1CAM):c.3581C>T (p.Ser1194Leu)
|
rs137852522
|
|
NM_001278116.2(L1CAM):c.3638del (p.Gly1213fs)
|
|
|
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.630C>A (p.His210Gln)
|
rs28933683
|
|
NM_001278116.2(L1CAM):c.719C>T (p.Pro240Leu)
|
rs137852526
|
|
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
|
|