NM_001378778.1(MPDZ):c.4469del (p.Gln1490fs)
|
rs781251438
|
0.00016
|
NM_001378778.1(MPDZ):c.3211C>T (p.Arg1071Ter)
|
rs376078512
|
0.00011
|
NM_001378778.1(MPDZ):c.4003+1G>A
|
rs767038098
|
0.00002
|
NM_001080414.4(CCDC88C):c.5841_5842del (p.Glu1949fs)
|
rs387907321
|
0.00001
|
NM_001278116.2(L1CAM):c.2254G>A (p.Val752Met)
|
rs137852525
|
0.00001
|
NM_001378778.1(MPDZ):c.1735C>T (p.Arg579Ter)
|
rs571799365
|
0.00001
|
NM_001378778.1(MPDZ):c.2882_2885dup (p.Ser963fs)
|
rs747068627
|
0.00001
|
L1CAM, 1.3-KB DUP
|
|
|
NC_000009.11:g.(13133904_13136090)_(13136182_13136710)del
|
|
|
NM_001080414.4(CCDC88C):c.255dup (p.Lys86Ter)
|
rs1886637325
|
|
NM_001080414.4(CCDC88C):c.5058+1G>A
|
rs387907320
|
|
NM_001080414.4(CCDC88C):c.5265_5266del (p.Phe1755fs)
|
rs1567043467
|
|
NM_001080414.4(CCDC88C):c.934C>T (p.Arg312Ter)
|
rs369384363
|
|
NM_001145313.3(FSD1L):c.1411C>T (p.Gln471Ter)
|
|
|
NM_001163809.2(WDR81):c.3286C>T (p.Gln1096Ter)
|
rs770279237
|
|
NM_001163809.2(WDR81):c.3771T>G (p.Tyr1257Ter)
|
rs1484029774
|
|
NM_001163809.2(WDR81):c.845G>A (p.Gly282Glu)
|
rs730882206
|
|
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.1408C>T (p.Gln470Ter)
|
rs1064793163
|
|
NM_001278116.2(L1CAM):c.1453C>T (p.Arg485Ter)
|
rs886039407
|
|
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.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.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.551G>A (p.Arg184Gln)
|
rs137852521
|
|
NM_001278116.2(L1CAM):c.719C>T (p.Pro240Leu)
|
rs137852526
|
|
NM_001278116.2(L1CAM):c.791G>A (p.Cys264Tyr)
|
rs137852518
|
|
NM_001278116.2(L1CAM):c.924C>T (p.Gly308=)
|
rs797044787
|
|
NM_001378778.1(MPDZ):c.2230C>T (p.Arg744Ter)
|
rs922703465
|
|
NM_001378778.1(MPDZ):c.3360-2A>G
|
rs1950043713
|
|
NM_001378778.1(MPDZ):c.414del (p.Phe138fs)
|
rs1267168609
|
|
NM_001378778.1(MPDZ):c.5125_5126insGTAT (p.Tyr1709fs)
|
rs2131610068
|
|
NM_001378778.1(MPDZ):c.5278G>A (p.Ala1760Thr)
|
rs1554644827
|
|
NM_001378778.1(MPDZ):c.5305G>T (p.Gly1769Ter)
|
rs772351764
|
|
NM_001378778.1(MPDZ):c.628C>T (p.Gln210Ter)
|
rs372127610
|
|
NM_001378778.1(MPDZ):c.755G>A (p.Trp252Ter)
|
rs797045707
|
|