NM_017617.5(NOTCH1):c.4129C>T (p.Pro1377Ser)
|
rs61751542
|
0.01511
|
NM_017617.5(NOTCH1):c.1669+5G>A
|
rs771590616
|
0.00001
|
NM_017617.5(NOTCH1):c.2704C>T (p.Arg902Cys)
|
rs1448345366
|
0.00001
|
NC_000009.11:g.(?_139404165)_(139405277_?)del
|
|
|
NC_000009.12:g.(?_136496061)_(136523989_?)del
|
|
|
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.2296G>A (p.Gly766Ser)
|
|
|
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.743-1G>T
|
rs587777735
|
|
NM_017617.5(NOTCH1):c.763_773del (p.Glu255fs)
|
rs2133372831
|
|
NM_017617.5(NOTCH1):c.794_797delinsCC (p.Asn265fs)
|
rs1554730184
|
|