NM_000435.3(NOTCH3):c.4044C>T (p.Gly1348=)
|
rs78926093
|
0.00784
|
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys)
|
rs201680145
|
0.00089
|
NM_000435.3(NOTCH3):c.1931T>A (p.Val644Asp)
|
rs148046938
|
0.00063
|
NM_000435.3(NOTCH3):c.3658C>T (p.Arg1220Trp)
|
rs115872852
|
0.00036
|
NM_000435.3(NOTCH3):c.3170C>T (p.Ala1057Val)
|
rs368146879
|
0.00026
|
NM_000435.3(NOTCH3):c.2183G>A (p.Arg728His)
|
rs144935367
|
0.00024
|
NM_000435.3(NOTCH3):c.2437G>A (p.Glu813Lys)
|
rs375873637
|
0.00020
|
NM_000435.3(NOTCH3):c.2738C>T (p.Pro913Leu)
|
rs370422650
|
0.00019
|
NM_000435.3(NOTCH3):c.6611C>T (p.Pro2204Leu)
|
rs371738874
|
0.00014
|
NM_000435.3(NOTCH3):c.3569G>A (p.Arg1190His)
|
rs372241697
|
0.00013
|
NM_000435.3(NOTCH3):c.6061G>A (p.Val2021Met)
|
rs199620476
|
0.00013
|
NM_000435.3(NOTCH3):c.1774C>A (p.Arg592Ser)
|
rs764148985
|
0.00011
|
NM_000435.3(NOTCH3):c.3664T>G (p.Cys1222Gly)
|
rs199638166
|
0.00011
|
NM_000435.3(NOTCH3):c.6809C>T (p.Thr2270Met)
|
rs148716935
|
0.00011
|
NM_000435.3(NOTCH3):c.3758A>C (p.Gln1253Pro)
|
rs749611934
|
0.00010
|
NM_000435.3(NOTCH3):c.3421G>A (p.Val1141Met)
|
rs373181668
|
0.00009
|
NM_000435.3(NOTCH3):c.5900T>C (p.Met1967Thr)
|
rs377589088
|
0.00009
|
NM_000435.3(NOTCH3):c.6239G>A (p.Arg2080Gln)
|
rs759896413
|
0.00009
|
NM_000435.3(NOTCH3):c.1500C>T (p.Ser500=)
|
rs146055867
|
0.00008
|
NM_000435.3(NOTCH3):c.3227G>A (p.Arg1076His)
|
rs771803651
|
0.00008
|
NM_000435.3(NOTCH3):c.3785G>T (p.Arg1262Leu)
|
rs143684274
|
0.00008
|
NM_000435.3(NOTCH3):c.1469G>C (p.Gly490Ala)
|
rs374248747
|
0.00007
|
NM_000435.3(NOTCH3):c.1505C>T (p.Ser502Phe)
|
rs778571943
|
0.00007
|
NM_000435.3(NOTCH3):c.269G>A (p.Arg90His)
|
rs754726425
|
0.00007
|
NM_000435.3(NOTCH3):c.4404C>T (p.Asn1468=)
|
rs145425679
|
0.00007
|
NM_000435.3(NOTCH3):c.4728G>C (p.Glu1576Asp)
|
rs557113034
|
0.00007
|
NM_000435.3(NOTCH3):c.1416G>T (p.Glu472Asp)
|
rs1416152273
|
0.00006
|
NM_000435.3(NOTCH3):c.2000G>A (p.Gly667Asp)
|
rs370386680
|
0.00006
|
NM_000435.3(NOTCH3):c.2358C>T (p.Cys786=)
|
rs754220821
|
0.00006
|
NM_000435.3(NOTCH3):c.359C>T (p.Pro120Leu)
|
rs778715118
|
0.00006
|
NM_000435.3(NOTCH3):c.472G>A (p.Asp158Asn)
|
rs544773641
|
0.00006
|
NM_000435.3(NOTCH3):c.487C>T (p.Arg163Trp)
|
rs367707092
|
0.00006
|
NM_000435.3(NOTCH3):c.5010G>A (p.Glu1670=)
|
rs937296497
|
0.00006
|
NM_000435.3(NOTCH3):c.5467G>A (p.Asp1823Asn)
|
rs763602970
|
0.00006
|
NM_000435.3(NOTCH3):c.6164C>T (p.Ala2055Val)
|
rs769066713
|
0.00006
|
NM_000435.3(NOTCH3):c.6619C>T (p.Arg2207Trp)
|
rs753170185
|
0.00006
|
NM_000435.3(NOTCH3):c.754G>A (p.Val252Met)
|
rs115836330
|
0.00006
|
NM_000435.3(NOTCH3):c.1631G>A (p.Arg544His)
|
rs751284168
|
0.00005
|
NM_000435.3(NOTCH3):c.351C>T (p.Cys117=)
|
rs200881673
|
0.00005
|
NM_000435.3(NOTCH3):c.451C>G (p.Gln151Glu)
|
rs371491165
|
0.00005
|
NM_000435.3(NOTCH3):c.5739G>A (p.Ala1913=)
|
rs776548752
|
0.00005
|
NM_000435.3(NOTCH3):c.6521G>A (p.Arg2174Gln)
|
rs1337328035
|
0.00005
|
NM_000435.3(NOTCH3):c.743G>C (p.Gly248Ala)
|
rs141402160
|
0.00005
|
NM_000435.3(NOTCH3):c.1277C>T (p.Pro426Leu)
|
rs756516988
|
0.00004
|
NM_000435.3(NOTCH3):c.1678G>A (p.Val560Met)
|
rs200160665
|
0.00004
|
NM_000435.3(NOTCH3):c.1724C>T (p.Thr575Met)
|
rs371176740
|
0.00004
|
NM_000435.3(NOTCH3):c.1873G>A (p.Ala625Thr)
|
rs747633377
|
0.00004
|
NM_000435.3(NOTCH3):c.2149C>T (p.Arg717Cys)
|
rs144163298
|
0.00004
|
NM_000435.3(NOTCH3):c.3210C>T (p.Cys1070=)
|
rs202041210
|
0.00004
|
NM_000435.3(NOTCH3):c.3475A>G (p.Ile1159Val)
|
rs1044143019
|
0.00004
|
NM_000435.3(NOTCH3):c.3566T>C (p.Phe1189Ser)
|
rs764617561
|
0.00004
|
NM_000435.3(NOTCH3):c.3806G>T (p.Gly1269Val)
|
rs781401262
|
0.00004
|
NM_000435.3(NOTCH3):c.488G>A (p.Arg163Gln)
|
rs761209241
|
0.00004
|
NM_000435.3(NOTCH3):c.5551C>T (p.Arg1851Cys)
|
rs376590511
|
0.00004
|
NM_000435.3(NOTCH3):c.6092G>A (p.Arg2031His)
|
rs779314594
|
0.00004
|
NM_000435.3(NOTCH3):c.6267G>A (p.Pro2089=)
|
rs577303432
|
0.00004
|
NM_000435.3(NOTCH3):c.6437C>T (p.Ala2146Val)
|
rs770739669
|
0.00004
|
NM_000435.3(NOTCH3):c.715G>A (p.Asp239Asn)
|
rs761407832
|
0.00004
|
NM_000435.3(NOTCH3):c.983C>T (p.Thr328Ile)
|
rs769567750
|
0.00004
|
NM_000435.3(NOTCH3):c.143C>T (p.Pro48Leu)
|
rs1362111590
|
0.00003
|
NM_000435.3(NOTCH3):c.2455C>G (p.Pro819Ala)
|
rs1301248585
|
0.00003
|
NM_000435.3(NOTCH3):c.2588C>T (p.Ser863Leu)
|
rs758913191
|
0.00003
|
NM_000435.3(NOTCH3):c.3311G>A (p.Gly1104Glu)
|
rs145524535
|
0.00003
|
NM_000435.3(NOTCH3):c.3352A>T (p.Asn1118Tyr)
|
rs376950447
|
0.00003
|
NM_000435.3(NOTCH3):c.3427C>T (p.Arg1143Cys)
|
rs60373464
|
0.00003
|
NM_000435.3(NOTCH3):c.4914A>G (p.Glu1638=)
|
rs149222385
|
0.00003
|
NM_000435.3(NOTCH3):c.5554G>A (p.Ala1852Thr)
|
rs971318341
|
0.00003
|
NM_000435.3(NOTCH3):c.6136C>T (p.Pro2046Ser)
|
rs1354320725
|
0.00003
|
NM_000435.3(NOTCH3):c.1247T>A (p.Leu416Gln)
|
rs749874158
|
0.00002
|
NM_000435.3(NOTCH3):c.1375G>A (p.Ala459Thr)
|
rs370186772
|
0.00002
|
NM_000435.3(NOTCH3):c.157G>A (p.Gly53Ser)
|
rs778989879
|
0.00002
|
NM_000435.3(NOTCH3):c.1895G>A (p.Gly632Glu)
|
rs1287498840
|
0.00002
|
NM_000435.3(NOTCH3):c.2118C>T (p.His706=)
|
rs760444055
|
0.00002
|
NM_000435.3(NOTCH3):c.2299C>T (p.Arg767Cys)
|
rs532100840
|
0.00002
|
NM_000435.3(NOTCH3):c.2359G>A (p.Glu787Lys)
|
rs1064797234
|
0.00002
|
NM_000435.3(NOTCH3):c.2450C>T (p.Pro817Leu)
|
rs142405648
|
0.00002
|
NM_000435.3(NOTCH3):c.3173G>T (p.Gly1058Val)
|
rs763038502
|
0.00002
|
NM_000435.3(NOTCH3):c.319C>T (p.Arg107Trp)
|
rs768965053
|
0.00002
|
NM_000435.3(NOTCH3):c.3305A>T (p.Tyr1102Phe)
|
rs148838056
|
0.00002
|
NM_000435.3(NOTCH3):c.3401G>A (p.Gly1134Glu)
|
rs1257366364
|
0.00002
|
NM_000435.3(NOTCH3):c.5180C>T (p.Pro1727Leu)
|
rs989373826
|
0.00002
|
NM_000435.3(NOTCH3):c.6266C>T (p.Pro2089Leu)
|
rs749288986
|
0.00002
|
NM_000435.3(NOTCH3):c.925G>A (p.Glu309Lys)
|
rs1386908989
|
0.00002
|
NM_000435.3(NOTCH3):c.1076C>G (p.Pro359Arg)
|
rs1487017745
|
0.00001
|
NM_000435.3(NOTCH3):c.107C>T (p.Pro36Leu)
|
rs1311684711
|
0.00001
|
NM_000435.3(NOTCH3):c.119C>T (p.Ala40Val)
|
rs766139231
|
0.00001
|
NM_000435.3(NOTCH3):c.133G>C (p.Asp45His)
|
rs142031490
|
0.00001
|
NM_000435.3(NOTCH3):c.1463T>G (p.Val488Gly)
|
rs760245739
|
0.00001
|
NM_000435.3(NOTCH3):c.1522G>A (p.Val508Met)
|
rs755398328
|
0.00001
|
NM_000435.3(NOTCH3):c.154G>A (p.Gly52Arg)
|
rs148166997
|
0.00001
|
NM_000435.3(NOTCH3):c.1747G>A (p.Val583Met)
|
rs886044601
|
0.00001
|
NM_000435.3(NOTCH3):c.1780G>A (p.Gly594Ser)
|
rs955926125
|
0.00001
|
NM_000435.3(NOTCH3):c.1783G>A (p.Gly595Ser)
|
rs770146452
|
0.00001
|
NM_000435.3(NOTCH3):c.2038C>T (p.Arg680Cys)
|
rs1250956327
|
0.00001
|
NM_000435.3(NOTCH3):c.2054C>T (p.Pro685Leu)
|
rs768867865
|
0.00001
|
NM_000435.3(NOTCH3):c.2119G>A (p.Gly707Ser)
|
rs1378515982
|
0.00001
|
NM_000435.3(NOTCH3):c.2137C>T (p.Pro713Ser)
|
rs147855256
|
0.00001
|
NM_000435.3(NOTCH3):c.2182C>T (p.Arg728Cys)
|
rs1057519101
|
0.00001
|
NM_000435.3(NOTCH3):c.2209G>A (p.Ala737Thr)
|
rs754815179
|
0.00001
|
NM_000435.3(NOTCH3):c.2225C>T (p.Pro742Leu)
|
rs780152379
|
0.00001
|
NM_000435.3(NOTCH3):c.2253C>T (p.Ser751=)
|
rs1039939758
|
0.00001
|
NM_000435.3(NOTCH3):c.2822A>T (p.Asp941Val)
|
rs369213416
|
0.00001
|
NM_000435.3(NOTCH3):c.2833T>A (p.Ser945Thr)
|
rs753330352
|
0.00001
|
NM_000435.3(NOTCH3):c.2887G>A (p.Ala963Thr)
|
rs199978689
|
0.00001
|
NM_000435.3(NOTCH3):c.2890G>C (p.Asp964His)
|
rs201336164
|
0.00001
|
NM_000435.3(NOTCH3):c.305C>T (p.Ala102Val)
|
rs1487780762
|
0.00001
|
NM_000435.3(NOTCH3):c.3083G>C (p.Trp1028Ser)
|
rs146829488
|
0.00001
|
NM_000435.3(NOTCH3):c.3110G>A (p.Ser1037Asn)
|
rs982964988
|
0.00001
|
NM_000435.3(NOTCH3):c.3293C>A (p.Thr1098Asn)
|
rs182238142
|
0.00001
|
NM_000435.3(NOTCH3):c.3344A>G (p.Asn1115Ser)
|
rs1399228829
|
0.00001
|
NM_000435.3(NOTCH3):c.3356G>A (p.Cys1119Tyr)
|
rs1266914122
|
0.00001
|
NM_000435.3(NOTCH3):c.3364G>A (p.Asp1122Asn)
|
rs140147764
|
0.00001
|
NM_000435.3(NOTCH3):c.3463G>T (p.Val1155Leu)
|
rs762281787
|
0.00001
|
NM_000435.3(NOTCH3):c.3552C>G (p.Asp1184Glu)
|
rs763112778
|
0.00001
|
NM_000435.3(NOTCH3):c.3718+6C>T
|
rs545768883
|
0.00001
|
NM_000435.3(NOTCH3):c.3919A>G (p.Thr1307Ala)
|
rs1331244525
|
0.00001
|
NM_000435.3(NOTCH3):c.3946C>T (p.Pro1316Ser)
|
rs1173886086
|
0.00001
|
NM_000435.3(NOTCH3):c.4112G>T (p.Arg1371Leu)
|
rs1177188516
|
0.00001
|
NM_000435.3(NOTCH3):c.4381G>A (p.Gly1461Ser)
|
rs1309726793
|
0.00001
|
NM_000435.3(NOTCH3):c.4406C>G (p.Pro1469Arg)
|
rs779132149
|
0.00001
|
NM_000435.3(NOTCH3):c.467G>A (p.Arg156Gln)
|
rs142492710
|
0.00001
|
NM_000435.3(NOTCH3):c.5006G>A (p.Arg1669His)
|
rs1184522923
|
0.00001
|
NM_000435.3(NOTCH3):c.5164A>G (p.Met1722Val)
|
rs1307548749
|
0.00001
|
NM_000435.3(NOTCH3):c.5203G>A (p.Glu1735Lys)
|
rs959827952
|
0.00001
|
NM_000435.3(NOTCH3):c.5281C>T (p.Arg1761Cys)
|
rs771814027
|
0.00001
|
NM_000435.3(NOTCH3):c.5398G>T (p.Gly1800Trp)
|
rs1012192046
|
0.00001
|
NM_000435.3(NOTCH3):c.5617C>T (p.Arg1873Cys)
|
rs749429793
|
0.00001
|
NM_000435.3(NOTCH3):c.5864C>T (p.Thr1955Ile)
|
rs574900839
|
0.00001
|
NM_000435.3(NOTCH3):c.6101C>G (p.Pro2034Arg)
|
rs751050359
|
0.00001
|
NM_000435.3(NOTCH3):c.6130T>C (p.Cys2044Arg)
|
rs2046642679
|
0.00001
|
NM_000435.3(NOTCH3):c.6242G>T (p.Gly2081Val)
|
rs141231747
|
0.00001
|
NM_000435.3(NOTCH3):c.6254C>T (p.Thr2085Met)
|
rs1199803741
|
0.00001
|
NM_000435.3(NOTCH3):c.6255G>A (p.Thr2085=)
|
rs967649457
|
0.00001
|
NM_000435.3(NOTCH3):c.625G>A (p.Gly209Arg)
|
rs776600631
|
0.00001
|
NM_000435.3(NOTCH3):c.6395C>T (p.Ala2132Val)
|
rs1300230282
|
0.00001
|
NM_000435.3(NOTCH3):c.6440G>A (p.Gly2147Asp)
|
rs897705605
|
0.00001
|
NM_000435.3(NOTCH3):c.6665C>T (p.Pro2222Leu)
|
rs1489373939
|
0.00001
|
NM_000435.3(NOTCH3):c.6701G>A (p.Arg2234His)
|
rs750631177
|
0.00001
|
NM_000435.3(NOTCH3):c.6924G>A (p.Gly2308=)
|
rs753654158
|
0.00001
|
NM_000435.3(NOTCH3):c.730C>T (p.Arg244Ter)
|
rs2046929318
|
0.00001
|
NM_000435.3(NOTCH3):c.772T>C (p.Tyr258His)
|
rs887378958
|
0.00001
|
NC_000019.9:g.(?_15284859)_(15311716_?)dup
|
|
|
NM_000435.3(NOTCH3):c.1000G>C (p.Ala334Pro)
|
|
|
NM_000435.3(NOTCH3):c.1003T>G (p.Ser335Ala)
|
rs2145439645
|
|
NM_000435.3(NOTCH3):c.1024A>G (p.Met342Val)
|
|
|
NM_000435.3(NOTCH3):c.1026G>A (p.Met342Ile)
|
|
|
NM_000435.3(NOTCH3):c.1027G>C (p.Gly343Arg)
|
rs1599393810
|
|
NM_000435.3(NOTCH3):c.1044G>A (p.Leu348=)
|
|
|
NM_000435.3(NOTCH3):c.1051C>A (p.Leu351Met)
|
rs1599392148
|
|
NM_000435.3(NOTCH3):c.1053G>A (p.Leu351=)
|
|
|
NM_000435.3(NOTCH3):c.1066G>A (p.Val356Ile)
|
rs1599392135
|
|
NM_000435.3(NOTCH3):c.1075C>G (p.Pro359Ala)
|
rs2046910565
|
|
NM_000435.3(NOTCH3):c.1109C>T (p.Pro370Leu)
|
|
|
NM_000435.3(NOTCH3):c.1120C>T (p.Arg374Trp)
|
rs867723391
|
|
NM_000435.3(NOTCH3):c.1121G>A (p.Arg374Gln)
|
|
|
NM_000435.3(NOTCH3):c.112G>T (p.Ala38Ser)
|
|
|
NM_000435.3(NOTCH3):c.1144G>T (p.Gly382Cys)
|
rs2145437046
|
|
NM_000435.3(NOTCH3):c.1151C>T (p.Thr384Met)
|
|
|
NM_000435.3(NOTCH3):c.1153G>A (p.Gly385Ser)
|
rs1568360640
|
|
NM_000435.3(NOTCH3):c.1179C>A (p.Asp393Glu)
|
|
|
NM_000435.3(NOTCH3):c.1182G>T (p.Glu394Asp)
|
|
|
NM_000435.3(NOTCH3):c.1191C>T (p.Ile397=)
|
|
|
NM_000435.3(NOTCH3):c.1193-10C>T
|
|
|
NM_000435.3(NOTCH3):c.1195G>A (p.Ala399Thr)
|
rs1390414547
|
|
NM_000435.3(NOTCH3):c.1223G>T (p.Cys408Phe)
|
|
|
NM_000435.3(NOTCH3):c.1262G>A (p.Arg421His)
|
rs2145436323
|
|
NM_000435.3(NOTCH3):c.1268A>G (p.Tyr423Cys)
|
rs1555729064
|
|
NM_000435.3(NOTCH3):c.1303T>C (p.Cys435Arg)
|
|
|
NM_000435.3(NOTCH3):c.1304G>A (p.Cys435Tyr)
|
|
|
NM_000435.3(NOTCH3):c.1305T>G (p.Cys435Trp)
|
rs2046907170
|
|
NM_000435.3(NOTCH3):c.1313G>T (p.Gly438Val)
|
|
|
NM_000435.3(NOTCH3):c.1321C>G (p.Arg441Gly)
|
|
|
NM_000435.3(NOTCH3):c.1322G>A (p.Arg441Gln)
|
|
|
NM_000435.3(NOTCH3):c.1327C>T (p.Gln443Ter)
|
|
|
NM_000435.3(NOTCH3):c.1364G>A (p.Cys455Tyr)
|
rs886041513
|
|
NM_000435.3(NOTCH3):c.1368_1369del (p.Ile456fs)
|
rs2145435979
|
|
NM_000435.3(NOTCH3):c.1369T>C (p.Cys457Arg)
|
|
|
NM_000435.3(NOTCH3):c.1375G>C (p.Ala459Pro)
|
rs370186772
|
|
NM_000435.3(NOTCH3):c.1377A>T (p.Ala459=)
|
|
|
NM_000435.3(NOTCH3):c.1385C>T (p.Thr462Ile)
|
|
|
NM_000435.3(NOTCH3):c.139A>G (p.Ser47Gly)
|
rs775259883
|
|
NM_000435.3(NOTCH3):c.1414G>A (p.Glu472Lys)
|
|
|
NM_000435.3(NOTCH3):c.1449C>T (p.Val483=)
|
|
|
NM_000435.3(NOTCH3):c.1474A>T (p.Ser492Cys)
|
rs2046899820
|
|
NM_000435.3(NOTCH3):c.1490C>G (p.Ser497Trp)
|
|
|
NM_000435.3(NOTCH3):c.1492+1G>A
|
|
|
NM_000435.3(NOTCH3):c.1492+2T>C
|
|
|
NM_000435.3(NOTCH3):c.1508C>T (p.Thr503Met)
|
|
|
NM_000435.3(NOTCH3):c.1510T>A (p.Cys504Ser)
|
rs2145434432
|
|
NM_000435.3(NOTCH3):c.1511G>A (p.Cys504Tyr)
|
|
|
NM_000435.3(NOTCH3):c.1512T>G (p.Cys504Trp)
|
|
|
NM_000435.3(NOTCH3):c.1534G>A (p.Ala512Thr)
|
|
|
NM_000435.3(NOTCH3):c.1561_1569dup (p.Val523_Asp524insLysCysVal)
|
|
|
NM_000435.3(NOTCH3):c.1566C>G (p.Cys522Trp)
|
|
|
NM_000435.3(NOTCH3):c.1572C>G (p.Asp524Glu)
|
|
|
NM_000435.3(NOTCH3):c.1576C>T (p.Pro526Ser)
|
|
|
NM_000435.3(NOTCH3):c.1606+6G>T
|
|
|
NM_000435.3(NOTCH3):c.1619C>G (p.Thr540Arg)
|
|
|
NM_000435.3(NOTCH3):c.161G>A (p.Arg54His)
|
rs754104109
|
|
NM_000435.3(NOTCH3):c.1621C>A (p.Leu541Met)
|
rs1410670785
|
|
NM_000435.3(NOTCH3):c.1635C>G (p.Asn545Lys)
|
|
|
NM_000435.3(NOTCH3):c.1698C>G (p.Phe566Leu)
|
|
|
NM_000435.3(NOTCH3):c.1709G>T (p.Cys570Phe)
|
rs2145433085
|
|
NM_000435.3(NOTCH3):c.1715C>T (p.Pro572Leu)
|
|
|
NM_000435.3(NOTCH3):c.1720T>C (p.Tyr574His)
|
rs1358697792
|
|
NM_000435.3(NOTCH3):c.1732C>A (p.Arg578Ser)
|
|
|
NM_000435.3(NOTCH3):c.1749G>A (p.Val583=)
|
|
|
NM_000435.3(NOTCH3):c.1756T>C (p.Cys586Arg)
|
|
|
NM_000435.3(NOTCH3):c.1775G>T (p.Arg592Leu)
|
rs763115768
|
|
NM_000435.3(NOTCH3):c.1797C>G (p.Asp599Glu)
|
|
|
NM_000435.3(NOTCH3):c.1808A>G (p.Lys603Arg)
|
rs1057519102
|
|
NM_000435.3(NOTCH3):c.1820G>A (p.Arg607His)
|
|
|
NM_000435.3(NOTCH3):c.1822T>C (p.Cys608Arg)
|
|
|
NM_000435.3(NOTCH3):c.182G>A (p.Arg61Gln)
|
|
|
NM_000435.3(NOTCH3):c.1840+3G>A
|
rs2046888185
|
|
NM_000435.3(NOTCH3):c.1867G>A (p.Asp623Asn)
|
|
|
NM_000435.3(NOTCH3):c.1871G>A (p.Cys624Tyr)
|
rs758997426
|
|
NM_000435.3(NOTCH3):c.1883C>A (p.Pro628His)
|
|
|
NM_000435.3(NOTCH3):c.1903C>T (p.Arg635Cys)
|
rs753801611
|
|
NM_000435.3(NOTCH3):c.1913T>C (p.Ile638Thr)
|
rs2145432343
|
|
NM_000435.3(NOTCH3):c.1930G>A (p.Val644Ile)
|
|
|
NM_000435.3(NOTCH3):c.1957C>A (p.Leu653Ile)
|
rs1336688514
|
|
NM_000435.3(NOTCH3):c.1957C>T (p.Leu653Phe)
|
|
|
NM_000435.3(NOTCH3):c.1966G>C (p.Val656Leu)
|
rs560752299
|
|
NM_000435.3(NOTCH3):c.197+8C>T
|
|
|
NM_000435.3(NOTCH3):c.1972A>T (p.Ile658Phe)
|
|
|
NM_000435.3(NOTCH3):c.1999G>T (p.Gly667Cys)
|
rs376046941
|
|
NM_000435.3(NOTCH3):c.2011T>A (p.Ser671Thr)
|
|
|
NM_000435.3(NOTCH3):c.2033G>A (p.Gly678Asp)
|
rs1599387375
|
|
NM_000435.3(NOTCH3):c.2071C>A (p.Leu691Ile)
|
|
|
NM_000435.3(NOTCH3):c.208G>T (p.Gly70Cys)
|
|
|
NM_000435.3(NOTCH3):c.2180C>T (p.Pro727Leu)
|
rs2046872807
|
|
NM_000435.3(NOTCH3):c.218G>T (p.Gly73Val)
|
|
|
NM_000435.3(NOTCH3):c.21CCG[4] (p.Arg13del)
|
rs894374843
|
|
NM_000435.3(NOTCH3):c.21CCG[6] (p.Arg13dup)
|
rs894374843
|
|
NM_000435.3(NOTCH3):c.2217G>T (p.Glu739Asp)
|
|
|
NM_000435.3(NOTCH3):c.2236G>T (p.Gly746Cys)
|
|
|
NM_000435.3(NOTCH3):c.227_228dup (p.Gln77fs)
|
rs2145443760
|
|
NM_000435.3(NOTCH3):c.2296+3G>T
|
rs2145429314
|
|
NM_000435.3(NOTCH3):c.2318C>A (p.Ser773Tyr)
|
rs2145428834
|
|
NM_000435.3(NOTCH3):c.231G>C (p.Gln77His)
|
rs1438944422
|
|
NM_000435.3(NOTCH3):c.2330C>T (p.Pro777Leu)
|
|
|
NM_000435.3(NOTCH3):c.2335C>G (p.Pro779Ala)
|
|
|
NM_000435.3(NOTCH3):c.2341G>A (p.Glu781Lys)
|
rs2145428734
|
|
NM_000435.3(NOTCH3):c.2369C>T (p.Pro790Leu)
|
rs2145428626
|
|
NM_000435.3(NOTCH3):c.2394C>A (p.Cys798Ter)
|
|
|
NM_000435.3(NOTCH3):c.239A>G (p.Asp80Gly)
|
rs1599395616
|
|
NM_000435.3(NOTCH3):c.2456C>A (p.Pro819His)
|
rs2145427778
|
|
NM_000435.3(NOTCH3):c.2460T>G (p.Cys820Trp)
|
|
|
NM_000435.3(NOTCH3):c.2464C>T (p.Pro822Ser)
|
rs1469970917
|
|
NM_000435.3(NOTCH3):c.2467C>A (p.His823Asn)
|
|
|
NM_000435.3(NOTCH3):c.2507C>A (p.Thr836Asn)
|
rs34338511
|
|
NM_000435.3(NOTCH3):c.2525C>G (p.Thr842Ser)
|
rs1215184250
|
|
NM_000435.3(NOTCH3):c.2539G>A (p.Asp847Asn)
|
|
|
NM_000435.3(NOTCH3):c.2542C>G (p.Gln848Glu)
|
|
|
NM_000435.3(NOTCH3):c.2557T>C (p.Cys853Arg)
|
rs1568357588
|
|
NM_000435.3(NOTCH3):c.2632G>C (p.Gly878Arg)
|
|
|
NM_000435.3(NOTCH3):c.2641G>A (p.Gly881Ser)
|
rs1436528088
|
|
NM_000435.3(NOTCH3):c.2645C>T (p.Pro882Leu)
|
rs760472019
|
|
NM_000435.3(NOTCH3):c.2660A>C (p.Asp887Ala)
|
|
|
NM_000435.3(NOTCH3):c.2699C>T (p.Thr900Ile)
|
|
|
NM_000435.3(NOTCH3):c.2713G>A (p.Val905Met)
|
|
|
NM_000435.3(NOTCH3):c.2716G>A (p.Ala906Thr)
|
|
|
NM_000435.3(NOTCH3):c.2717C>T (p.Ala906Val)
|
rs754997329
|
|
NM_000435.3(NOTCH3):c.2741_2742delinsAG (p.Pro914Gln)
|
rs2145423971
|
|
NM_000435.3(NOTCH3):c.2741_2742inv (p.Pro914Leu)
|
|
|
NM_000435.3(NOTCH3):c.2747A>G (p.Tyr916Cys)
|
|
|
NM_000435.3(NOTCH3):c.2749G>A (p.Gly917Arg)
|
rs150338460
|
|
NM_000435.3(NOTCH3):c.2753G>A (p.Gly918Asp)
|
rs2145423909
|
|
NM_000435.3(NOTCH3):c.2762G>A (p.Cys921Tyr)
|
|
|
NM_000435.3(NOTCH3):c.2793-2A>G
|
|
|
NM_000435.3(NOTCH3):c.2793-8C>A
|
rs960266832
|
|
NM_000435.3(NOTCH3):c.2827G>T (p.Val943Leu)
|
rs764894150
|
|
NM_000435.3(NOTCH3):c.2840G>C (p.Ser947Thr)
|
rs1555728008
|
|
NM_000435.3(NOTCH3):c.2857G>T (p.Gly953Cys)
|
|
|
NM_000435.3(NOTCH3):c.2879A>T (p.Gln960Leu)
|
|
|
NM_000435.3(NOTCH3):c.289G>A (p.Val97Met)
|
|
|
NM_000435.3(NOTCH3):c.2905C>T (p.Arg969Trp)
|
|
|
NM_000435.3(NOTCH3):c.2918A>C (p.His973Pro)
|
|
|
NM_000435.3(NOTCH3):c.2920G>T (p.Gly974Trp)
|
rs747234439
|
|
NM_000435.3(NOTCH3):c.2938G>T (p.Ala980Ser)
|
|
|
NM_000435.3(NOTCH3):c.2956T>C (p.Cys986Arg)
|
|
|
NM_000435.3(NOTCH3):c.2962T>C (p.Cys988Arg)
|
rs2145422681
|
|
NM_000435.3(NOTCH3):c.2981del (p.Gly994fs)
|
|
|
NM_000435.3(NOTCH3):c.2996C>T (p.Thr999Met)
|
|
|
NM_000435.3(NOTCH3):c.29G>A (p.Arg10His)
|
|
|
NM_000435.3(NOTCH3):c.3044G>A (p.Cys1015Tyr)
|
rs1555727938
|
|
NM_000435.3(NOTCH3):c.304G>T (p.Ala102Ser)
|
|
|
NM_000435.3(NOTCH3):c.3061dup (p.Tyr1021fs)
|
rs2145421802
|
|
NM_000435.3(NOTCH3):c.3064T>A (p.Cys1022Ser)
|
rs2046833026
|
|
NM_000435.3(NOTCH3):c.3084G>C (p.Trp1028Cys)
|
rs2046832726
|
|
NM_000435.3(NOTCH3):c.3088G>A (p.Gly1030Arg)
|
|
|
NM_000435.3(NOTCH3):c.308G>A (p.Arg103Gln)
|
|
|
NM_000435.3(NOTCH3):c.3107G>A (p.Arg1036Gln)
|
|
|
NM_000435.3(NOTCH3):c.3130G>T (p.Ala1044Ser)
|
rs767672719
|
|
NM_000435.3(NOTCH3):c.313T>C (p.Ser105Pro)
|
|
|
NM_000435.3(NOTCH3):c.3148C>T (p.Arg1050Trp)
|
|
|
NM_000435.3(NOTCH3):c.3193G>A (p.Asp1065Asn)
|
rs920169956
|
|
NM_000435.3(NOTCH3):c.3206A>G (p.Tyr1069Cys)
|
rs1438064001
|
|
NM_000435.3(NOTCH3):c.320G>A (p.Arg107Gln)
|
|
|
NM_000435.3(NOTCH3):c.3298C>T (p.Arg1100Cys)
|
|
|
NM_000435.3(NOTCH3):c.3328-1G>A
|
rs886044600
|
|
NM_000435.3(NOTCH3):c.3353A>T (p.Asn1118Ile)
|
|
|
NM_000435.3(NOTCH3):c.341-32_341-21del
|
|
|
NM_000435.3(NOTCH3):c.3425C>T (p.Ala1142Val)
|
|
|
NM_000435.3(NOTCH3):c.3472G>A (p.Glu1158Lys)
|
|
|
NM_000435.3(NOTCH3):c.3488A>T (p.Asp1163Val)
|
rs1568354937
|
|
NM_000435.3(NOTCH3):c.3542C>T (p.Thr1181Ile)
|
rs1216306549
|
|
NM_000435.3(NOTCH3):c.3548T>C (p.Val1183Ala)
|
|
|
NM_000435.3(NOTCH3):c.3568C>T (p.Arg1190Cys)
|
|
|
NM_000435.3(NOTCH3):c.3589T>C (p.Tyr1197His)
|
|
|
NM_000435.3(NOTCH3):c.3628C>G (p.Arg1210Gly)
|
|
|
NM_000435.3(NOTCH3):c.363T>A (p.Asp121Glu)
|
rs2046935214
|
|
NM_000435.3(NOTCH3):c.370C>G (p.Leu124Val)
|
rs2145442481
|
|
NM_000435.3(NOTCH3):c.3718+5G>A
|
|
|
NM_000435.3(NOTCH3):c.3727T>C (p.Cys1243Arg)
|
|
|
NM_000435.3(NOTCH3):c.3757_3758delinsAG (p.Gln1253Arg)
|
rs2046814637
|
|
NM_000435.3(NOTCH3):c.37C>T (p.Arg13Cys)
|
|
|
NM_000435.3(NOTCH3):c.3829_3835del (p.Cys1277fs)
|
|
|
NM_000435.3(NOTCH3):c.3837+10G>T
|
rs1555727565
|
|
NM_000435.3(NOTCH3):c.3837+3A>G
|
|
|
NM_000435.3(NOTCH3):c.3838C>A (p.Pro1280Thr)
|
rs958354298
|
|
NM_000435.3(NOTCH3):c.3838C>T (p.Pro1280Ser)
|
|
|
NM_000435.3(NOTCH3):c.3863G>C (p.Arg1288Pro)
|
|
|
NM_000435.3(NOTCH3):c.3865G>A (p.Val1289Met)
|
|
|
NM_000435.3(NOTCH3):c.3865del (p.Val1289fs)
|
rs2046807565
|
|
NM_000435.3(NOTCH3):c.3871C>G (p.Arg1291Gly)
|
rs2046807463
|
|
NM_000435.3(NOTCH3):c.3893G>T (p.Cys1298Phe)
|
rs2046807248
|
|
NM_000435.3(NOTCH3):c.391G>A (p.Gly131Ser)
|
rs767150916
|
|
NM_000435.3(NOTCH3):c.3926G>C (p.Arg1309Pro)
|
|
|
NM_000435.3(NOTCH3):c.3932C>T (p.Pro1311Leu)
|
|
|
NM_000435.3(NOTCH3):c.3944G>A (p.Cys1315Tyr)
|
rs1432396805
|
|
NM_000435.3(NOTCH3):c.3949C>T (p.Pro1317Ser)
|
rs1481252730
|
|
NM_000435.3(NOTCH3):c.3982C>A (p.Pro1328Thr)
|
rs2145415421
|
|
NM_000435.3(NOTCH3):c.3989C>T (p.Ser1330Leu)
|
|
|
NM_000435.3(NOTCH3):c.4000G>T (p.Ala1334Ser)
|
|
|
NM_000435.3(NOTCH3):c.4004_4006dup (p.Ser1335dup)
|
rs1555727412
|
|
NM_000435.3(NOTCH3):c.4018G>A (p.Ala1340Thr)
|
|
|
NM_000435.3(NOTCH3):c.4025C>T (p.Ala1342Val)
|
|
|
NM_000435.3(NOTCH3):c.4029_4030del (p.Cys1344fs)
|
|
|
NM_000435.3(NOTCH3):c.4029del (p.Cys1344fs)
|
|
|
NM_000435.3(NOTCH3):c.4038C>T (p.His1346=)
|
rs1555727404
|
|
NM_000435.3(NOTCH3):c.4111C>G (p.Arg1371Gly)
|
rs2145415056
|
|
NM_000435.3(NOTCH3):c.427C>T (p.Leu143Phe)
|
rs772201554
|
|
NM_000435.3(NOTCH3):c.4347_4350dup (p.Cys1451fs)
|
rs2145414374
|
|
NM_000435.3(NOTCH3):c.4404-6C>G
|
rs1157189739
|
|
NM_000435.3(NOTCH3):c.4417_4428dup (p.Lys1473_Ala1476dup)
|
rs1599374922
|
|
NM_000435.3(NOTCH3):c.4418_4422del (p.Lys1473fs)
|
rs2046769538
|
|
NM_000435.3(NOTCH3):c.4431C>A (p.Asp1477Glu)
|
|
|
NM_000435.3(NOTCH3):c.4475A>C (p.Glu1492Ala)
|
rs2046768843
|
|
NM_000435.3(NOTCH3):c.4521G>A (p.Leu1507=)
|
|
|
NM_000435.3(NOTCH3):c.4528C>T (p.Arg1510Cys)
|
rs763870059
|
|
NM_000435.3(NOTCH3):c.4534G>A (p.Val1512Met)
|
|
|
NM_000435.3(NOTCH3):c.4534G>C (p.Val1512Leu)
|
|
|
NM_000435.3(NOTCH3):c.458G>A (p.Arg153His)
|
|
|
NM_000435.3(NOTCH3):c.4627C>A (p.Leu1543Met)
|
rs111838442
|
|
NM_000435.3(NOTCH3):c.4637G>A (p.Arg1546His)
|
|
|
NM_000435.3(NOTCH3):c.4648C>G (p.His1550Asp)
|
|
|
NM_000435.3(NOTCH3):c.4676A>G (p.His1559Arg)
|
rs2145408576
|
|
NM_000435.3(NOTCH3):c.4679G>A (p.Arg1560Gln)
|
|
|
NM_000435.3(NOTCH3):c.4737-7C>G
|
|
|
NM_000435.3(NOTCH3):c.4762A>C (p.Asn1588His)
|
rs2046727426
|
|
NM_000435.3(NOTCH3):c.4798T>A (p.Cys1600Ser)
|
rs2046726978
|
|
NM_000435.3(NOTCH3):c.4798T>C (p.Cys1600Arg)
|
|
|
NM_000435.3(NOTCH3):c.4806C>A (p.Pro1602=)
|
rs578082632
|
|
NM_000435.3(NOTCH3):c.4826A>T (p.Asp1609Val)
|
rs2145401603
|
|
NM_000435.3(NOTCH3):c.4864T>C (p.Phe1622Leu)
|
|
|
NM_000435.3(NOTCH3):c.4868C>G (p.Pro1623Arg)
|
|
|
NM_000435.3(NOTCH3):c.4880G>T (p.Arg1627Leu)
|
rs1407627346
|
|
NM_000435.3(NOTCH3):c.4944_4945dup (p.Ala1649fs)
|
rs2046723155
|
|
NM_000435.3(NOTCH3):c.5000G>A (p.Arg1667His)
|
|
|
NM_000435.3(NOTCH3):c.5005C>G (p.Arg1669Gly)
|
|
|
NM_000435.3(NOTCH3):c.5014A>T (p.Ser1672Cys)
|
|
|
NM_000435.3(NOTCH3):c.5015G>A (p.Ser1672Asn)
|
rs2046722168
|
|
NM_000435.3(NOTCH3):c.5030C>T (p.Pro1677Leu)
|
|
|
NM_000435.3(NOTCH3):c.506G>A (p.Arg169His)
|
|
|
NM_000435.3(NOTCH3):c.5089G>T (p.Val1697Leu)
|
|
|
NM_000435.3(NOTCH3):c.5136C>G (p.Ser1712Arg)
|
rs1360797131
|
|
NM_000435.3(NOTCH3):c.5149G>A (p.Val1717Met)
|
|
|
NM_000435.3(NOTCH3):c.5180C>G (p.Pro1727Arg)
|
rs989373826
|
|
NM_000435.3(NOTCH3):c.5203G>C (p.Glu1735Gln)
|
|
|
NM_000435.3(NOTCH3):c.5258A>G (p.His1753Arg)
|
rs1599366686
|
|
NM_000435.3(NOTCH3):c.5285T>C (p.Val1762Ala)
|
rs750747488
|
|
NM_000435.3(NOTCH3):c.5297T>C (p.Met1766Thr)
|
rs1420105350
|
|
NM_000435.3(NOTCH3):c.530C>T (p.Thr177Ile)
|
rs919800459
|
|
NM_000435.3(NOTCH3):c.531_532delinsTT (p.Pro178Ser)
|
rs2145441756
|
|
NM_000435.3(NOTCH3):c.5354G>C (p.Arg1785Pro)
|
|
|
NM_000435.3(NOTCH3):c.5366G>A (p.Gly1789Asp)
|
rs1085307509
|
|
NM_000435.3(NOTCH3):c.5399G>C (p.Gly1800Ala)
|
|
|
NM_000435.3(NOTCH3):c.550C>T (p.Gln184Ter)
|
|
|
NM_000435.3(NOTCH3):c.5543G>A (p.Arg1848His)
|
|
|
NM_000435.3(NOTCH3):c.5552G>A (p.Arg1851His)
|
|
|
NM_000435.3(NOTCH3):c.557C>T (p.Pro186Leu)
|
|
|
NM_000435.3(NOTCH3):c.5603A>G (p.Gln1868Arg)
|
rs2145391979
|
|
NM_000435.3(NOTCH3):c.5647G>T (p.Asp1883Tyr)
|
rs1568347508
|
|
NM_000435.3(NOTCH3):c.5694C>T (p.Asp1898=)
|
rs753245814
|
|
NM_000435.3(NOTCH3):c.5704C>T (p.Arg1902Cys)
|
|
|
NM_000435.3(NOTCH3):c.5723C>T (p.Thr1908Met)
|
|
|
NM_000435.3(NOTCH3):c.5734C>G (p.Leu1912Val)
|
|
|
NM_000435.3(NOTCH3):c.5738C>T (p.Ala1913Val)
|
|
|
NM_000435.3(NOTCH3):c.5750C>T (p.Ala1917Val)
|
|
|
NM_000435.3(NOTCH3):c.5780C>A (p.Ala1927Asp)
|
|
|
NM_000435.3(NOTCH3):c.5795_5796delinsAT (p.Val1932Asp)
|
|
|
NM_000435.3(NOTCH3):c.5798A>G (p.Asn1933Ser)
|
|
|
NM_000435.3(NOTCH3):c.583G>A (p.Glu195Lys)
|
rs1599394696
|
|
NM_000435.3(NOTCH3):c.589C>T (p.Pro197Ser)
|
|
|
NM_000435.3(NOTCH3):c.5901G>A (p.Met1967Ile)
|
rs373866355
|
|
NM_000435.3(NOTCH3):c.5902C>T (p.Gln1968Ter)
|
|
|
NM_000435.3(NOTCH3):c.5914G>A (p.Glu1972Lys)
|
rs2145384096
|
|
NM_000435.3(NOTCH3):c.5990A>G (p.Asn1997Ser)
|
|
|
NM_000435.3(NOTCH3):c.5993G>A (p.Arg1998His)
|
rs2046644859
|
|
NM_000435.3(NOTCH3):c.6016A>T (p.Arg2006Trp)
|
rs375674115
|
|
NM_000435.3(NOTCH3):c.6035C>G (p.Ala2012Gly)
|
|
|
NM_000435.3(NOTCH3):c.6043A>G (p.Arg2015Gly)
|
rs2046644200
|
|
NM_000435.3(NOTCH3):c.605_606inv (p.Ala202Val)
|
|
|
NM_000435.3(NOTCH3):c.6065G>A (p.Arg2022His)
|
|
|
NM_000435.3(NOTCH3):c.6097C>A (p.Pro2033Thr)
|
rs375213868
|
|
NM_000435.3(NOTCH3):c.6102dup (p.Gly2035fs)
|
|
|
NM_000435.3(NOTCH3):c.6129C>T (p.Leu2043=)
|
rs943996920
|
|
NM_000435.3(NOTCH3):c.6169C>T (p.Gln2057Ter)
|
rs2145382884
|
|
NM_000435.3(NOTCH3):c.6187A>T (p.Ser2063Cys)
|
|
|
NM_000435.3(NOTCH3):c.6194G>A (p.Arg2065Lys)
|
|
|
NM_000435.3(NOTCH3):c.61C>T (p.Pro21Ser)
|
|
|
NM_000435.3(NOTCH3):c.6201dup (p.Gly2068fs)
|
|
|
NM_000435.3(NOTCH3):c.6227G>T (p.Gly2076Val)
|
|
|
NM_000435.3(NOTCH3):c.6233G>A (p.Arg2078Gln)
|
|
|
NM_000435.3(NOTCH3):c.6241G>A (p.Gly2081Ser)
|
|
|
NM_000435.3(NOTCH3):c.6260C>G (p.Ala2087Gly)
|
rs2145382342
|
|
NM_000435.3(NOTCH3):c.6269del (p.Gly2090fs)
|
rs1011713833
|
|
NM_000435.3(NOTCH3):c.6276G>A (p.Leu2092=)
|
|
|
NM_000435.3(NOTCH3):c.6287C>T (p.Ser2096Leu)
|
|
|
NM_000435.3(NOTCH3):c.6323C>T (p.Pro2108Leu)
|
|
|
NM_000435.3(NOTCH3):c.6378C>T (p.Pro2126=)
|
|
|
NM_000435.3(NOTCH3):c.6379T>A (p.Tyr2127Asn)
|
|
|
NM_000435.3(NOTCH3):c.6409C>G (p.Leu2137Val)
|
rs2046639059
|
|
NM_000435.3(NOTCH3):c.6443T>G (p.Leu2148Arg)
|
rs2145381386
|
|
NM_000435.3(NOTCH3):c.6446G>A (p.Gly2149Glu)
|
|
|
NM_000435.3(NOTCH3):c.6448C>T (p.Arg2150Cys)
|
|
|
NM_000435.3(NOTCH3):c.6454C>G (p.Pro2152Ala)
|
rs2145381350
|
|
NM_000435.3(NOTCH3):c.6463G>C (p.Gly2155Arg)
|
|
|
NM_000435.3(NOTCH3):c.6505C>T (p.Pro2169Ser)
|
|
|
NM_000435.3(NOTCH3):c.6536C>T (p.Ala2179Val)
|
|
|
NM_000435.3(NOTCH3):c.6538C>A (p.Pro2180Thr)
|
|
|
NM_000435.3(NOTCH3):c.6551C>T (p.Ser2184Leu)
|
|
|
NM_000435.3(NOTCH3):c.6559C>G (p.Leu2187Val)
|
rs969052177
|
|
NM_000435.3(NOTCH3):c.6578C>A (p.Pro2193His)
|
|
|
NM_000435.3(NOTCH3):c.6587_6592dup (p.Asn2197_Pro2198insLeuAsn)
|
|
|
NM_000435.3(NOTCH3):c.6643C>A (p.Pro2215Thr)
|
|
|
NM_000435.3(NOTCH3):c.6679C>T (p.His2227Tyr)
|
rs779441679
|
|
NM_000435.3(NOTCH3):c.6681C>G (p.His2227Gln)
|
rs1366113655
|
|
NM_000435.3(NOTCH3):c.6694A>G (p.Lys2232Glu)
|
|
|
NM_000435.3(NOTCH3):c.6705_6730del (p.Phe2235fs)
|
rs2145380263
|
|
NM_000435.3(NOTCH3):c.6709C>G (p.Arg2237Gly)
|
rs749189648
|
|
NM_000435.3(NOTCH3):c.6709C>T (p.Arg2237Trp)
|
|
|
NM_000435.3(NOTCH3):c.6710G>T (p.Arg2237Leu)
|
rs537601286
|
|
NM_000435.3(NOTCH3):c.6726C>T (p.His2242=)
|
|
|
NM_000435.3(NOTCH3):c.6727C>T (p.Pro2243Ser)
|
|
|
NM_000435.3(NOTCH3):c.6755C>T (p.Pro2252Leu)
|
rs201073642
|
|
NM_000435.3(NOTCH3):c.6767C>G (p.Ala2256Gly)
|
|
|
NM_000435.3(NOTCH3):c.6767C>T (p.Ala2256Val)
|
|
|
NM_000435.3(NOTCH3):c.6850A>T (p.Thr2284Ser)
|
rs1177268940
|
|
NM_000435.3(NOTCH3):c.6905A>G (p.Gln2302Arg)
|
|
|
NM_000435.3(NOTCH3):c.6928C>T (p.Gln2310Ter)
|
|
|
NM_000435.3(NOTCH3):c.719G>A (p.Cys240Tyr)
|
rs1599394351
|
|
NM_000435.3(NOTCH3):c.724G>C (p.Gly242Arg)
|
|
|
NM_000435.3(NOTCH3):c.733T>C (p.Cys245Arg)
|
rs2145440767
|
|
NM_000435.3(NOTCH3):c.740A>G (p.Asn247Ser)
|
|
|
NM_000435.3(NOTCH3):c.742_743delinsAT (p.Gly248Met)
|
|
|
NM_000435.3(NOTCH3):c.748dup (p.Thr250fs)
|
|
|
NM_000435.3(NOTCH3):c.763G>A (p.Val255Ile)
|
rs1160655218
|
|
NM_000435.3(NOTCH3):c.770C>T (p.Thr257Ile)
|
|
|
NM_000435.3(NOTCH3):c.77C>T (p.Ala26Val)
|
rs1329279009
|
|
NM_000435.3(NOTCH3):c.790C>T (p.Pro264Ser)
|
|
|
NM_000435.3(NOTCH3):c.802+6C>G
|
|
|
NM_000435.3(NOTCH3):c.827A>T (p.Asp276Val)
|
|
|
NM_000435.3(NOTCH3):c.83C>G (p.Pro28Arg)
|
|
|
NM_000435.3(NOTCH3):c.900C>T (p.Cys300=)
|
|
|
NM_000435.3(NOTCH3):c.911A>G (p.Asn304Ser)
|
|
|
NM_000435.3(NOTCH3):c.924C>T (p.Gly308=)
|
rs1043995
|
|
NM_000435.3(NOTCH3):c.953G>A (p.Cys318Tyr)
|
rs1568361404
|
|
NM_000435.3(NOTCH3):c.976G>A (p.Gly326Arg)
|
|
|