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.649A>C (p.Arg217=)
|
rs201204893
|
0.00014
|
NM_001278116.2(L1CAM):c.2254G>A (p.Val752Met)
|
rs137852525
|
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.1108G>A (p.Gly370Arg)
|
rs137852524
|
|
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.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.1703+5G>A
|
|
|
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.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.2440dup (p.Ala814fs)
|
rs1603274424
|
|
NM_001278116.2(L1CAM):c.2555del (p.Tyr852fs)
|
|
|
NM_001278116.2(L1CAM):c.3046+1G>A
|
rs1557090220
|
|
NM_001278116.2(L1CAM):c.3458-1G>C
|
rs879253724
|
|
NM_001278116.2(L1CAM):c.3581C>T (p.Ser1194Leu)
|
rs137852522
|
|
NM_001278116.2(L1CAM):c.3G>A (p.Met1Ile)
|
rs1603277433
|
|
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.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.791G>A (p.Cys264Tyr)
|
rs137852518
|
|
NM_001278116.2(L1CAM):c.924C>T (p.Gly308=)
|
rs797044787
|
|