|
NM_001080414.4(CCDC88C):c.2204G>A (p.Arg735His)
|
rs114142372
|
0.00949
|
|
NM_001080414.4(CCDC88C):c.4433T>C (p.Val1478Ala)
|
rs201222692
|
0.00627
|
|
NM_001080414.4(CCDC88C):c.5183T>C (p.Phe1728Ser)
|
rs7145583
|
0.00602
|
|
NM_001080414.4(CCDC88C):c.906G>A (p.Ala302=)
|
rs11851173
|
0.00565
|
|
NM_001378778.1(MPDZ):c.6176G>A (p.Arg2059Gln)
|
rs193280665
|
0.00527
|
|
NM_001080414.4(CCDC88C):c.4668G>A (p.Leu1556=)
|
rs139544500
|
0.00494
|
|
NM_005027.4(PIK3R2):c.1560-17C>T
|
rs183117011
|
0.00461
|
|
NM_001080414.4(CCDC88C):c.5951G>A (p.Arg1984Gln)
|
rs61745465
|
0.00451
|
|
NM_001080414.4(CCDC88C):c.4287C>T (p.Thr1429=)
|
rs146028766
|
0.00326
|
|
NM_001080414.4(CCDC88C):c.969C>T (p.Asn323=)
|
rs61737660
|
0.00287
|
|
NM_001080414.4(CCDC88C):c.6027G>A (p.Pro2009=)
|
rs200979954
|
0.00175
|
|
NM_001163809.2(WDR81):c.3532G>A (p.Ala1178Thr)
|
rs151330612
|
0.00121
|
|
NM_001080414.4(CCDC88C):c.2393C>T (p.Ala798Val)
|
rs200650758
|
0.00081
|
|
NM_001080414.4(CCDC88C):c.6026C>T (p.Pro2009Leu)
|
rs201940261
|
0.00078
|
|
NM_001759.4(CCND2):c.756G>A (p.Ala252=)
|
rs145050894
|
0.00074
|
|
NM_001080414.4(CCDC88C):c.4579A>G (p.Thr1527Ala)
|
rs201414940
|
0.00057
|
|
NM_001080414.4(CCDC88C):c.590G>A (p.Arg197Gln)
|
rs200769097
|
0.00053
|
|
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_001163809.2(WDR81):c.2304C>T (p.His768=)
|
rs994508298
|
0.00016
|
|
NM_001080414.4(CCDC88C):c.1391G>A (p.Arg464His)
|
rs587782989
|
0.00011
|
|
NM_001163809.2(WDR81):c.2567C>T (p.Pro856Leu)
|
rs587776906
|
0.00007
|
|
NM_001378778.1(MPDZ):c.367G>A (p.Asp123Asn)
|
rs367848962
|
0.00007
|
|
NM_001278116.2(L1CAM):c.385C>T (p.Arg129Trp)
|
rs201978087
|
0.00003
|
|
NM_001163809.2(WDR81):c.5607C>T (p.Ser1869=)
|
rs760895795
|
0.00002
|
|
NM_001080414.4(CCDC88C):c.755dup (p.Ala253fs)
|
rs1555422946
|
0.00001
|
|
NM_001163809.2(WDR81):c.1604G>A (p.Arg535His)
|
rs563732828
|
0.00001
|
|
NM_001278116.2(L1CAM):c.3118G>A (p.Glu1040Lys)
|
rs1557090130
|
0.00001
|
|
NM_005027.4(PIK3R2):c.2120C>T (p.Ala707Val)
|
rs772782368
|
0.00001
|
|
NM_001080414.4(CCDC88C):c.105_108del (p.Thr36fs)
|
|
|
|
NM_001080414.4(CCDC88C):c.1259T>C (p.Ile420Thr)
|
|
|
|
NM_001080414.4(CCDC88C):c.1420_1421del (p.Ser474fs)
|
|
|
|
NM_001080414.4(CCDC88C):c.1637del (p.Glu546fs)
|
|
|
|
NM_001080414.4(CCDC88C):c.1748C>T (p.Ala583Val)
|
|
|
|
NM_001080414.4(CCDC88C):c.2206dup (p.Glu736fs)
|
|
|
|
NM_001080414.4(CCDC88C):c.2903dup (p.Leu968fs)
|
|
|
|
NM_001080414.4(CCDC88C):c.3013A>T (p.Lys1005Ter)
|
|
|
|
NM_001080414.4(CCDC88C):c.3074A>G (p.Lys1025Arg)
|
|
|
|
NM_001080414.4(CCDC88C):c.3166_3167insT (p.Lys1056fs)
|
|
|
|
NM_001080414.4(CCDC88C):c.3195+1G>T
|
|
|
|
NM_001080414.4(CCDC88C):c.3310del (p.Leu1104fs)
|
|
|
|
NM_001080414.4(CCDC88C):c.3358-2A>C
|
|
|
|
NM_001080414.4(CCDC88C):c.340+1G>T
|
|
|
|
NM_001080414.4(CCDC88C):c.3550G>T (p.Glu1184Ter)
|
|
|
|
NM_001080414.4(CCDC88C):c.3733G>A (p.Ala1245Thr)
|
|
|
|
NM_001080414.4(CCDC88C):c.3796del (p.His1266fs)
|
|
|
|
NM_001080414.4(CCDC88C):c.4090_4093delinsATT (p.His1364fs)
|
|
|
|
NM_001080414.4(CCDC88C):c.4096G>T (p.Glu1366Ter)
|
|
|
|
NM_001080414.4(CCDC88C):c.4113-1_4117del
|
|
|
|
NM_001080414.4(CCDC88C):c.4442-2A>G
|
|
|
|
NM_001080414.4(CCDC88C):c.4651C>G (p.Leu1551Val)
|
|
|
|
NM_001080414.4(CCDC88C):c.4768+1G>T
|
|
|
|
NM_001080414.4(CCDC88C):c.4793G>A (p.Arg1598Gln)
|
|
|
|
NM_001080414.4(CCDC88C):c.483+1G>T
|
|
|
|
NM_001080414.4(CCDC88C):c.5101C>T (p.Arg1701Ter)
|
|
|
|
NM_001080414.4(CCDC88C):c.5132dup (p.Gln1712fs)
|
|
|
|
NM_001080414.4(CCDC88C):c.5209G>A (p.Ala1737Thr)
|
|
|
|
NM_001080414.4(CCDC88C):c.5250C>G (p.Tyr1750Ter)
|
|
|
|
NM_001080414.4(CCDC88C):c.5273_5276del (p.Thr1758fs)
|
|
|
|
NM_001080414.4(CCDC88C):c.5449G>A (p.Gly1817Arg)
|
|
|
|
NM_001080414.4(CCDC88C):c.5522_5525del (p.Gly1841fs)
|
|
|
|
NM_001080414.4(CCDC88C):c.5695del (p.Leu1899fs)
|
rs1396400378
|
|
|
NM_001080414.4(CCDC88C):c.613G>T (p.Glu205Ter)
|
|
|
|
NM_001080414.4(CCDC88C):c.739G>A (p.Glu247Lys)
|
|
|
|
NM_001080414.4(CCDC88C):c.77C>T (p.Pro26Leu)
|
|
|
|
NM_001080414.4(CCDC88C):c.934C>T (p.Arg312Ter)
|
rs369384363
|
|
|
NM_001080414.4(CCDC88C):c.99_100insGGTT (p.Asn34delinsGlyTer)
|
|
|
|
NM_001163809.2(WDR81):c.2095C>T (p.Arg699Cys)
|
|
|
|
NM_001163809.2(WDR81):c.2179C>T (p.Pro727Ser)
|
|
|
|
NM_001163809.2(WDR81):c.4300C>G (p.Gln1434Glu)
|
|
|
|
NM_001278116.2(L1CAM):c.2516_2517delinsAT (p.Ala839Asp)
|
rs2148494375
|
|
|
NM_001278116.2(L1CAM):c.3047-2A>T
|
|
|
|
NM_001278116.2(L1CAM):c.719C>T (p.Pro240Leu)
|
rs137852526
|
|
|
NM_001759.4(CCND2):c.829C>T (p.Gln277Ter)
|
rs1864225645
|
|
|
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg)
|
rs587776934
|
|
|
NM_005027.4(PIK3R2):c.1523G>A (p.Arg508His)
|
|
|
|
NM_005027.4(PIK3R2):c.158G>C (p.Ser53Thr)
|
|
|