NM_020812.4(DOCK6):c.5939+2T>C
|
rs201387914
|
0.00019
|
NM_020812.4(DOCK6):c.3190_3191del (p.Leu1064fs)
|
rs747575528
|
0.00010
|
NM_001278689.2(EOGT):c.1335-1G>A
|
rs185181819
|
0.00006
|
NM_001278689.2(EOGT):c.311+1G>T
|
rs369583084
|
0.00005
|
NM_001278689.2(EOGT):c.1130G>A (p.Arg377Gln)
|
rs587776995
|
0.00002
|
NM_017617.5(NOTCH1):c.1669+5G>A
|
rs771590616
|
0.00001
|
NM_017617.5(NOTCH1):c.2704C>T (p.Arg902Cys)
|
rs1448345366
|
0.00001
|
NM_020812.4(DOCK6):c.1245dup (p.Asp416Ter)
|
rs1226716539
|
0.00001
|
NM_020812.4(DOCK6):c.4106+1G>A
|
rs1192375765
|
0.00001
|
NC_000009.11:g.(?_138392557)_(141016451_?)del
|
|
|
NC_000009.11:g.(?_138683633)_(139440248_?)del
|
|
|
NC_000009.11:g.(?_139404165)_(139405277_?)del
|
|
|
NC_000009.12:g.(?_136496061)_(136523989_?)del
|
|
|
NC_000009.12:g.136545168_136630028del
|
|
|
NM_001278689.2(EOGT):c.1074del (p.Gly359fs)
|
rs587776994
|
|
NM_001278689.2(EOGT):c.1234C>T (p.Gln412Ter)
|
|
|
NM_001278689.2(EOGT):c.404G>A (p.Cys135Tyr)
|
rs1247059195
|
|
NM_001278689.2(EOGT):c.620G>C (p.Trp207Ser)
|
rs587776993
|
|
NM_001278689.2(EOGT):c.78_81del (p.His27fs)
|
rs771160630
|
|
NM_015874.6(RBPJ):c.149A>G (p.Glu50Gly)
|
rs387907270
|
|
NM_015874.6(RBPJ):c.466A>G (p.Lys156Glu)
|
rs387907271
|
|
NM_017617.5(NOTCH1):c.1017_1018del (p.Ala340fs)
|
rs1843317673
|
|
NM_017617.5(NOTCH1):c.1116_1118delinsAC (p.Asn373fs)
|
rs2133369937
|
|
NM_017617.5(NOTCH1):c.1285T>C (p.Cys429Arg)
|
rs587777736
|
|
NM_017617.5(NOTCH1):c.1342C>T (p.Arg448Ter)
|
rs869025494
|
|
NM_017617.5(NOTCH1):c.1343G>A (p.Arg448Gln)
|
rs864622056
|
|
NM_017617.5(NOTCH1):c.1396del (p.Thr466fs)
|
rs1564199476
|
|
NM_017617.5(NOTCH1):c.1537C>T (p.Gln513Ter)
|
|
|
NM_017617.5(NOTCH1):c.1542C>A (p.Cys514Ter)
|
rs779058908
|
|
NM_017617.5(NOTCH1):c.1649dup (p.Tyr550Ter)
|
rs864622059
|
|
NM_017617.5(NOTCH1):c.1784_1787del (p.Tyr595fs)
|
rs2133363840
|
|
NM_017617.5(NOTCH1):c.1800_1801dup (p.Glu601fs)
|
rs1843252720
|
|
NM_017617.5(NOTCH1):c.1935_1936del (p.Ala646fs)
|
rs1554729443
|
|
NM_017617.5(NOTCH1):c.2365C>T (p.Gln789Ter)
|
rs1554729118
|
|
NM_017617.5(NOTCH1):c.2380G>T (p.Glu794Ter)
|
rs1554729113
|
|
NM_017617.5(NOTCH1):c.2448dup (p.Cys817fs)
|
rs1589064285
|
|
NM_017617.5(NOTCH1):c.2759dup (p.Ser921fs)
|
|
|
NM_017617.5(NOTCH1):c.2880C>A (p.Cys960Ter)
|
|
|
NM_017617.5(NOTCH1):c.3266G>A (p.Trp1089Ter)
|
rs1554728428
|
|
NM_017617.5(NOTCH1):c.3281G>A (p.Cys1094Tyr)
|
rs1554728424
|
|
NM_017617.5(NOTCH1):c.3319C>T (p.Arg1107Ter)
|
rs41309764
|
|
NM_017617.5(NOTCH1):c.3684del (p.Val1229fs)
|
|
|
NM_017617.5(NOTCH1):c.3792_3793del (p.Cys1264_Glu1265delinsTer)
|
|
|
NM_017617.5(NOTCH1):c.4021G>T (p.Glu1341Ter)
|
|
|
NM_017617.5(NOTCH1):c.4071C>A (p.Cys1357Ter)
|
rs1564191302
|
|
NM_017617.5(NOTCH1):c.410C>A (p.Ser137Ter)
|
|
|
NM_017617.5(NOTCH1):c.4120T>C (p.Cys1374Arg)
|
rs864622060
|
|
NM_017617.5(NOTCH1):c.4127del (p.Gly1376fs)
|
rs1589058964
|
|
NM_017617.5(NOTCH1):c.415C>T (p.Gln139Ter)
|
rs1554730670
|
|
NM_017617.5(NOTCH1):c.4222G>T (p.Glu1408Ter)
|
rs587778569
|
|
NM_017617.5(NOTCH1):c.428del (p.Pro143fs)
|
rs2133377982
|
|
NM_017617.5(NOTCH1):c.4363C>T (p.Gln1455Ter)
|
rs2133339552
|
|
NM_017617.5(NOTCH1):c.4396C>T (p.Gln1466Ter)
|
rs2133339381
|
|
NM_017617.5(NOTCH1):c.4483C>T (p.Gln1495Ter)
|
rs1036363986
|
|
NM_017617.5(NOTCH1):c.4483_4504del (p.Gln1495fs)
|
|
|
NM_017617.5(NOTCH1):c.4487G>A (p.Cys1496Tyr)
|
rs587781259
|
|
NM_017617.5(NOTCH1):c.4549G>A (p.Asp1517Asn)
|
rs1554727954
|
|
NM_017617.5(NOTCH1):c.4663G>T (p.Glu1555Ter)
|
rs746342893
|
|
NM_017617.5(NOTCH1):c.4668G>A (p.Trp1556Ter)
|
rs2133337500
|
|
NM_017617.5(NOTCH1):c.4739dup (p.Met1580fs)
|
rs864622061
|
|
NM_017617.5(NOTCH1):c.5310_5314dup (p.Gly1772fs)
|
|
|
NM_017617.5(NOTCH1):c.550C>T (p.Gln184Ter)
|
rs1589072024
|
|
NM_017617.5(NOTCH1):c.5906dup (p.Ser1970fs)
|
|
|
NM_017617.5(NOTCH1):c.5965G>A (p.Asp1989Asn)
|
rs587777734
|
|
NM_017617.5(NOTCH1):c.6049_6050del (p.Ser2017fs)
|
rs864622063
|
|
NM_017617.5(NOTCH1):c.743-1G>T
|
rs587777735
|
|
NM_017617.5(NOTCH1):c.763_773del (p.Glu255fs)
|
rs2133372831
|
|
NM_017617.5(NOTCH1):c.794_797delinsCC (p.Asn265fs)
|
rs1554730184
|
|
NM_019074.4(DLL4):c.1168T>C (p.Cys390Arg)
|
rs796065347
|
|
NM_019074.4(DLL4):c.1169G>A (p.Cys390Tyr)
|
rs796065346
|
|
NM_019074.4(DLL4):c.1310G>C (p.Cys437Ser)
|
rs1555393125
|
|
NM_019074.4(DLL4):c.1365C>G (p.Cys455Trp)
|
rs796065345
|
|
NM_019074.4(DLL4):c.1397G>A (p.Cys466Tyr)
|
rs1247027543
|
|
NM_019074.4(DLL4):c.1660C>T (p.Gln554Ter)
|
rs796065344
|
|
NM_019074.4(DLL4):c.1672C>T (p.Arg558Ter)
|
rs61750844
|
|
NM_019074.4(DLL4):c.1825C>T (p.Gln609Ter)
|
rs1555393182
|
|
NM_019074.4(DLL4):c.1857_1864del (p.Pro621fs)
|
rs1892853569
|
|
NM_019074.4(DLL4):c.361G>C (p.Ala121Pro)
|
rs796065350
|
|
NM_019074.4(DLL4):c.556C>T (p.Arg186Cys)
|
rs796065348
|
|
NM_019074.4(DLL4):c.583T>C (p.Phe195Leu)
|
rs796065351
|
|
NM_019074.4(DLL4):c.799C>A (p.Pro267Thr)
|
rs796065349
|
|
NM_020754.4(ARHGAP31):c.2047C>T (p.Gln683Ter)
|
rs387907031
|
|
NM_020754.4(ARHGAP31):c.2182C>T (p.Gln728Ter)
|
rs1553768038
|
|
NM_020754.4(ARHGAP31):c.3260del (p.Lys1087fs)
|
rs1559999373
|
|
NM_020812.4(DOCK6):c.1300del (p.Gln434fs)
|
rs2147852182
|
|
NM_020812.4(DOCK6):c.1362_1365del (p.Thr455fs)
|
rs730882238
|
|
NM_020812.4(DOCK6):c.1396C>T (p.Arg466Ter)
|
rs1198436520
|
|
NM_020812.4(DOCK6):c.2520dup (p.Arg841fs)
|
rs397509398
|
|
NM_020812.4(DOCK6):c.3154G>A (p.Glu1052Lys)
|
rs774877657
|
|
NM_020812.4(DOCK6):c.4107-1G>C
|
rs397509399
|
|
NM_020812.4(DOCK6):c.4824_4828del (p.Glu1609fs)
|
rs1555826472
|
|
NM_020812.4(DOCK6):c.550C>T (p.Arg184Ter)
|
|
|
NM_020812.4(DOCK6):c.5616dup (p.Lys1873Ter)
|
|
|
NM_020812.4(DOCK6):c.5783_5790del (p.Lys1928fs)
|
rs1232184969
|
|
NM_020812.4(DOCK6):c.705C>G (p.Tyr235Ter)
|
rs1555697020
|
|
NM_020812.4(DOCK6):c.788T>A (p.Val263Asp)
|
rs879255610
|
|