NM_020812.4(DOCK6):c.5939+2T>C
|
rs201387914
|
0.00019
|
NM_001278689.2(EOGT):c.311+1G>T
|
rs369583084
|
0.00005
|
NM_001278689.2(EOGT):c.1130G>A (p.Arg377Gln)
|
rs587776995
|
0.00002
|
NM_020812.4(DOCK6):c.1245dup (p.Asp416Ter)
|
rs1226716539
|
0.00001
|
NC_000009.12:g.136545168_136630028del
|
|
|
NM_001278689.2(EOGT):c.1074del (p.Gly359fs)
|
rs587776994
|
|
NM_001278689.2(EOGT):c.404G>A (p.Cys135Tyr)
|
rs1247059195
|
|
NM_001278689.2(EOGT):c.620G>C (p.Trp207Ser)
|
rs587776993
|
|
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.1285T>C (p.Cys429Arg)
|
rs587777736
|
|
NM_017617.5(NOTCH1):c.1649dup (p.Tyr550Ter)
|
rs864622059
|
|
NM_017617.5(NOTCH1):c.4120T>C (p.Cys1374Arg)
|
rs864622060
|
|
NM_017617.5(NOTCH1):c.4487G>A (p.Cys1496Tyr)
|
rs587781259
|
|
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_019074.4(DLL4):c.1168T>C (p.Cys390Arg)
|
rs796065347
|
|
NM_019074.4(DLL4):c.1169G>A (p.Cys390Tyr)
|
rs796065346
|
|
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.361G>C (p.Ala121Pro)
|
rs796065350
|
|
NM_019074.4(DLL4):c.556C>T (p.Arg186Cys)
|
rs796065348
|
|
NM_020754.4(ARHGAP31):c.2047C>T (p.Gln683Ter)
|
rs387907031
|
|
NM_020754.4(ARHGAP31):c.3260del (p.Lys1087fs)
|
rs1559999373
|
|
NM_020812.4(DOCK6):c.1362_1365del (p.Thr455fs)
|
rs730882238
|
|
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.788T>A (p.Val263Asp)
|
rs879255610
|
|