NM_017617.5(NOTCH1):c.1945C>A (p.Pro649Thr)
|
rs780710009
|
0.00006
|
NM_017617.5(NOTCH1):c.1162G>A (p.Asp388Asn)
|
rs1290954710
|
0.00001
|
NM_017617.5(NOTCH1):c.2047G>A (p.Ala683Thr)
|
rs756434709
|
0.00001
|
NM_017617.5(NOTCH1):c.2806G>A (p.Gly936Ser)
|
rs773847667
|
0.00001
|
NC_000009.12:g.(?_136496071)_(136523980_?)del
|
|
|
NM_017617.5(NOTCH1):c.1077C>A (p.Cys359Ter)
|
rs202235419
|
|
NM_017617.5(NOTCH1):c.1093C>T (p.Arg365Cys)
|
rs1064795070
|
|
NM_017617.5(NOTCH1):c.1099+1G>T
|
|
|
NM_017617.5(NOTCH1):c.1108T>C (p.Cys370Arg)
|
|
|
NM_017617.5(NOTCH1):c.1220C>G (p.Pro407Arg)
|
rs754529382
|
|
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.1345T>C (p.Cys449Arg)
|
rs864622057
|
|
NM_017617.5(NOTCH1):c.1367G>A (p.Cys456Tyr)
|
rs864622058
|
|
NM_017617.5(NOTCH1):c.1393G>A (p.Ala465Thr)
|
rs1057523819
|
|
NM_017617.5(NOTCH1):c.140+2T>A
|
|
|
NM_017617.5(NOTCH1):c.141-2A>T
|
rs1554730758
|
|
NM_017617.5(NOTCH1):c.1627_1669+11del
|
|
|
NM_017617.5(NOTCH1):c.1651dup (p.Thr551fs)
|
rs1843262329
|
|
NM_017617.5(NOTCH1):c.1810del (p.Ile604fs)
|
rs1589066272
|
|
NM_017617.5(NOTCH1):c.2014+1G>A
|
rs515726232
|
|
NM_017617.5(NOTCH1):c.2015-2A>G
|
|
|
NM_017617.5(NOTCH1):c.2015-2del
|
rs2133361331
|
|
NM_017617.5(NOTCH1):c.2112C>A (p.Cys704Ter)
|
|
|
NM_017617.5(NOTCH1):c.2153A>G (p.Asn718Ser)
|
rs1843232044
|
|
NM_017617.5(NOTCH1):c.2266G>T (p.Glu756Ter)
|
|
|
NM_017617.5(NOTCH1):c.2319_2354-74del
|
rs2133358321
|
|
NM_017617.5(NOTCH1):c.2380del (p.Glu794fs)
|
rs863224901
|
|
NM_017617.5(NOTCH1):c.2587+1G>T
|
|
|
NM_017617.5(NOTCH1):c.2588-2A>C
|
rs1057521857
|
|
NM_017617.5(NOTCH1):c.2741-1G>A
|
rs1843152606
|
|
NM_017617.5(NOTCH1):c.2825G>A (p.Cys942Tyr)
|
rs1554728658
|
|
NM_017617.5(NOTCH1):c.2842G>T (p.Glu948Ter)
|
|
|
NM_017617.5(NOTCH1):c.3282C>A (p.Cys1094Ter)
|
|
|
NM_017617.5(NOTCH1):c.3511-1G>A
|
rs2133345379
|
|
NM_017617.5(NOTCH1):c.3856C>T (p.Gln1286Ter)
|
|
|
NM_017617.5(NOTCH1):c.389del (p.Pro130fs)
|
rs1843413593
|
|
NM_017617.5(NOTCH1):c.4045_4052del (p.Ala1349fs)
|
rs1554728034
|
|
NM_017617.5(NOTCH1):c.4120T>C (p.Cys1374Arg)
|
rs864622060
|
|
NM_017617.5(NOTCH1):c.4121G>T (p.Cys1374Phe)
|
rs1064796867
|
|
NM_017617.5(NOTCH1):c.428C>T (p.Pro143Leu)
|
rs1228192276
|
|
NM_017617.5(NOTCH1):c.4549G>A (p.Asp1517Asn)
|
rs1554727954
|
|
NM_017617.5(NOTCH1):c.4549G>C (p.Asp1517His)
|
|
|
NM_017617.5(NOTCH1):c.4552_4560del (p.Gly1518_Asp1520del)
|
rs2133338569
|
|
NM_017617.5(NOTCH1):c.4587-1G>T
|
|
|
NM_017617.5(NOTCH1):c.4758_4759insCA (p.Asn1587fs)
|
rs1843055667
|
|
NM_017617.5(NOTCH1):c.4906G>T (p.Glu1636Ter)
|
|
|
NM_017617.5(NOTCH1):c.5061G>T (p.Gln1687His)
|
rs515726233
|
|
NM_017617.5(NOTCH1):c.5281del (p.Arg1761fs)
|
rs515726231
|
|
NM_017617.5(NOTCH1):c.5385-1G>A
|
rs1843006535
|
|
NM_017617.5(NOTCH1):c.5402C>G (p.Ser1801Ter)
|
|
|
NM_017617.5(NOTCH1):c.5624A>G (p.Asn1875Ser)
|
|
|
NM_017617.5(NOTCH1):c.5927T>A (p.Val1976Asp)
|
|
|
NM_017617.5(NOTCH1):c.6200T>C (p.Leu2067Pro)
|
rs786205600
|
|
NM_017617.5(NOTCH1):c.6253G>C (p.Ala2085Pro)
|
rs786205599
|
|
NM_017617.5(NOTCH1):c.6913_6916del (p.Asn2305fs)
|
|
|
NM_017617.5(NOTCH1):c.7096C>T (p.Gln2366Ter)
|
|
|
NM_017617.5(NOTCH1):c.743-1G>T
|
rs587777735
|
|
NM_017617.5(NOTCH1):c.977dup (p.Trp327fs)
|
|
|
Single allele
|
|
|