NM_000098.3(CPT2):c.338C>T (p.Ser113Leu)
|
rs74315294
|
0.00134
|
NM_000098.3(CPT2):c.680C>T (p.Pro227Leu)
|
rs74315298
|
0.00039
|
NM_000098.3(CPT2):c.149C>A (p.Pro50His)
|
rs28936375
|
0.00022
|
NM_000098.3(CPT2):c.359A>G (p.Tyr120Cys)
|
rs121918528
|
0.00006
|
NM_000098.3(CPT2):c.98del (p.Gln33fs)
|
rs917744011
|
0.00005
|
NM_000098.3(CPT2):c.1511C>T (p.Pro504Leu)
|
rs368311455
|
0.00003
|
NM_000098.3(CPT2):c.886C>T (p.Arg296Ter)
|
rs727503887
|
0.00003
|
NM_000098.3(CPT2):c.887G>A (p.Arg296Gln)
|
rs764849762
|
0.00003
|
NM_000098.3(CPT2):c.1414C>T (p.Gln472Ter)
|
rs754386565
|
0.00002
|
NM_000098.3(CPT2):c.1460A>C (p.Glu487Ala)
|
rs368132822
|
0.00002
|
NM_000098.3(CPT2):c.1660C>T (p.Arg554Ter)
|
rs539239516
|
0.00002
|
NM_000098.3(CPT2):c.1148T>A (p.Phe383Tyr)
|
rs74315295
|
0.00001
|
NM_000098.3(CPT2):c.1348A>T (p.Arg450Ter)
|
rs755395180
|
0.00001
|
NM_000098.3(CPT2):c.1369A>T (p.Lys457Ter)
|
rs756931329
|
0.00001
|
NM_000098.3(CPT2):c.1459G>A (p.Glu487Lys)
|
rs778743524
|
0.00001
|
NM_000098.3(CPT2):c.1507C>T (p.Arg503Cys)
|
rs74315296
|
0.00001
|
NM_000098.3(CPT2):c.152+5G>A
|
rs1397098803
|
0.00001
|
NM_000098.3(CPT2):c.1665C>G (p.His555Gln)
|
rs1557719450
|
0.00001
|
NM_000098.3(CPT2):c.1666_1667del (p.Leu556fs)
|
rs1557719455
|
0.00001
|
NM_000098.3(CPT2):c.1774_1775del (p.Leu592fs)
|
rs767004984
|
0.00001
|
NM_000098.3(CPT2):c.1891C>T (p.Arg631Cys)
|
rs74315293
|
0.00001
|
NM_000098.3(CPT2):c.28_29insAGCAAG (p.Trp10Ter)
|
rs1374482155
|
0.00001
|
NM_000098.3(CPT2):c.370C>T (p.Arg124Ter)
|
rs201065226
|
0.00001
|
NM_000098.3(CPT2):c.452G>A (p.Arg151Gln)
|
rs515726177
|
0.00001
|
NM_000098.3(CPT2):c.520G>A (p.Glu174Lys)
|
rs28936674
|
0.00001
|
NM_000098.3(CPT2):c.603G>A (p.Trp201Ter)
|
rs745547578
|
0.00001
|
NM_000098.3(CPT2):c.75del (p.Ser26fs)
|
rs1057517493
|
0.00001
|
NM_000098.3(CPT2):c.896_906dup (p.Arg303fs)
|
rs766004699
|
0.00001
|
NC_000001.10:g.(?_53662606)_(53668111_?)del
|
|
|
NC_000001.10:g.(?_53662616)_(53668121_?)del
|
|
|
NC_000001.11:g.(?_53196934)_(53197105_?)del
|
|
|
NC_000001.11:g.(?_53200709)_(53202439_?)del
|
|
|
NM_000098.2(CPT2):c.[1238_1239delAG;1342T>C]
|
|
|
NM_000098.3(CPT2):c.1052G>A (p.Trp351Ter)
|
rs1645419457
|
|
NM_000098.3(CPT2):c.1087dup (p.Asp363fs)
|
rs2100273480
|
|
NM_000098.3(CPT2):c.110_111dup (p.Ser38fs)
|
rs754363068
|
|
NM_000098.3(CPT2):c.1121G>A (p.Trp374Ter)
|
|
|
NM_000098.3(CPT2):c.1143_1144del (p.Arg382fs)
|
|
|
NM_000098.3(CPT2):c.1152_1153insSVAelement
|
|
|
NM_000098.3(CPT2):c.1152del (p.Phe384fs)
|
|
|
NM_000098.3(CPT2):c.1196del (p.Pro399fs)
|
|
|
NM_000098.3(CPT2):c.1239_1240del (p.Lys414fs)
|
rs397509431
|
|
NM_000098.3(CPT2):c.1244_1245del (p.Leu415fs)
|
rs1645421667
|
|
NM_000098.3(CPT2):c.1273_1274del (p.Thr425fs)
|
|
|
NM_000098.3(CPT2):c.1293_1296del (p.Glu432fs)
|
rs2100274025
|
|
NM_000098.3(CPT2):c.1302dup (p.Asp435Ter)
|
|
|
NM_000098.3(CPT2):c.1324dup (p.Thr442fs)
|
rs1131691330
|
|
NM_000098.3(CPT2):c.1339C>T (p.Gln447Ter)
|
rs1446745791
|
|
NM_000098.3(CPT2):c.1345delinsTA (p.Gln449Ter)
|
rs1057517525
|
|
NM_000098.3(CPT2):c.135C>G (p.Tyr45Ter)
|
rs1645327989
|
|
NM_000098.3(CPT2):c.1360G>T (p.Glu454Ter)
|
rs74315299
|
|
NM_000098.3(CPT2):c.1394_1403del (p.Ala465fs)
|
rs2100274299
|
|
NM_000098.3(CPT2):c.1402C>T (p.Gln468Ter)
|
rs964928101
|
|
NM_000098.3(CPT2):c.1437C>G (p.Tyr479Ter)
|
|
|
NM_000098.3(CPT2):c.1441C>T (p.Gln481Ter)
|
|
|
NM_000098.3(CPT2):c.1444_1447del (p.Thr482fs)
|
|
|
NM_000098.3(CPT2):c.1444_1645+364del
|
rs1645424505
|
|
NM_000098.3(CPT2):c.1459G>T (p.Glu487Ter)
|
rs778743524
|
|
NM_000098.3(CPT2):c.1505T>C (p.Ile502Thr)
|
rs1553169799
|
|
NM_000098.3(CPT2):c.1528_1529del (p.Lys510fs)
|
|
|
NM_000098.3(CPT2):c.1552_1553del (p.Arg518fs)
|
rs2100274755
|
|
NM_000098.3(CPT2):c.1569_1570del (p.His523fs)
|
rs1572385947
|
|
NM_000098.3(CPT2):c.1608dup (p.Lys537fs)
|
rs1553169813
|
|
NM_000098.3(CPT2):c.1613del (p.Tyr538fs)
|
|
|
NM_000098.3(CPT2):c.164_165del (p.Pro55fs)
|
rs2100259785
|
|
NM_000098.3(CPT2):c.1725_1726del (p.Asp576fs)
|
rs1645442171
|
|
NM_000098.3(CPT2):c.1737C>A (p.Tyr579Ter)
|
|
|
NM_000098.3(CPT2):c.1767_1777delinsT (p.Ser590fs)
|
rs1553169975
|
|
NM_000098.3(CPT2):c.1767del (p.Ser590fs)
|
rs1553169973
|
|
NM_000098.3(CPT2):c.1784del (p.Pro595fs)
|
rs760255368
|
|
NM_000098.3(CPT2):c.1798G>A (p.Gly600Arg)
|
rs1645443101
|
|
NM_000098.3(CPT2):c.1802dup (p.Phe602fs)
|
|
|
NM_000098.3(CPT2):c.1806del (p.Phe602fs)
|
|
|
NM_000098.3(CPT2):c.1816_1817del (p.Val606fs)
|
rs908749525
|
|
NM_000098.3(CPT2):c.1867_1890del (p.Cys623_Gly630del)
|
rs1553170006
|
|
NM_000098.3(CPT2):c.1886del (p.Pro629fs)
|
rs763889116
|
|
NM_000098.3(CPT2):c.188G>T (p.Arg63Ile)
|
rs748182542
|
|
NM_000098.3(CPT2):c.1927del (p.Ala643fs)
|
rs2100279176
|
|
NM_000098.3(CPT2):c.1929del (p.Ala643_Leu644insTer)
|
rs1553170029
|
|
NM_000098.3(CPT2):c.1932dup (p.Glu645fs)
|
rs1645445189
|
|
NM_000098.3(CPT2):c.202C>T (p.Gln68Ter)
|
rs771406546
|
|
NM_000098.3(CPT2):c.204del (p.Lys69fs)
|
rs1645350030
|
|
NM_000098.3(CPT2):c.20dup (p.Arg8fs)
|
|
|
NM_000098.3(CPT2):c.213_214del (p.Leu72fs)
|
rs751253358
|
|
NM_000098.3(CPT2):c.215T>A (p.Leu72Ter)
|
|
|
NM_000098.3(CPT2):c.238del (p.Thr80fs)
|
rs2100261764
|
|
NM_000098.3(CPT2):c.256_257del (p.Ser86fs)
|
rs1645359135
|
|
NM_000098.3(CPT2):c.257del (p.Ser86fs)
|
|
|
NM_000098.3(CPT2):c.298del (p.Val100fs)
|
|
|
NM_000098.3(CPT2):c.320_321del (p.Lys107fs)
|
rs2100261898
|
|
NM_000098.3(CPT2):c.347G>A (p.Trp116Ter)
|
rs1645411052
|
|
NM_000098.3(CPT2):c.350_354del (p.Phe117fs)
|
rs778895906
|
|
NM_000098.3(CPT2):c.38del (p.Gly13fs)
|
rs786204647
|
|
NM_000098.3(CPT2):c.39_46dup (p.Val16fs)
|
rs2100254713
|
|
NM_000098.3(CPT2):c.43_62dup (p.Ser22fs)
|
|
|
NM_000098.3(CPT2):c.451C>T (p.Arg151Trp)
|
rs200080591
|
|
NM_000098.3(CPT2):c.520G>T (p.Glu174Ter)
|
rs28936674
|
|
NM_000098.3(CPT2):c.522del (p.Val175fs)
|
rs2100271968
|
|
NM_000098.3(CPT2):c.534_558delinsT (p.Leu178_Ile186delinsPhe)
|
rs515726173
|
|
NM_000098.3(CPT2):c.556_557del (p.Ile186fs)
|
|
|
NM_000098.3(CPT2):c.585del (p.Pro196fs)
|
rs1645413342
|
|
NM_000098.3(CPT2):c.602G>A (p.Trp201Ter)
|
|
|
NM_000098.3(CPT2):c.612del (p.Tyr205fs)
|
|
|
NM_000098.3(CPT2):c.627_630dup (p.Pro211fs)
|
rs1553169629
|
|
NM_000098.3(CPT2):c.638A>G (p.Asp213Gly)
|
rs74315300
|
|
NM_000098.3(CPT2):c.646C>T (p.Gln216Ter)
|
|
|
NM_000098.3(CPT2):c.669_673del (p.Thr224fs)
|
rs1645414208
|
|
NM_000098.3(CPT2):c.670del (p.Thr224fs)
|
rs762366252
|
|
NM_000098.3(CPT2):c.674_677dup (p.Pro227fs)
|
|
|
NM_000098.3(CPT2):c.721A>T (p.Arg241Ter)
|
rs200252755
|
|
NM_000098.3(CPT2):c.725_726del (p.His242fs)
|
rs1238901632
|
|
NM_000098.3(CPT2):c.745G>T (p.Gly249Ter)
|
rs2100272595
|
|
NM_000098.3(CPT2):c.747_748insTT (p.Asn250fs)
|
rs2100272626
|
|
NM_000098.3(CPT2):c.748_749del (p.Asn250fs)
|
rs1187631754
|
|
NM_000098.3(CPT2):c.754del (p.Tyr252fs)
|
|
|
NM_000098.3(CPT2):c.790del (p.Ile263_Val264insTer)
|
|
|
NM_000098.3(CPT2):c.798dup (p.Ser267fs)
|
rs2100272735
|
|
NM_000098.3(CPT2):c.808C>T (p.Gln270Ter)
|
rs1645416037
|
|
NM_000098.3(CPT2):c.834dup (p.Asp279fs)
|
rs2100272823
|
|
NM_000098.3(CPT2):c.836_839del (p.Asp279fs)
|
rs1645416288
|
|
NM_000098.3(CPT2):c.852del (p.Glu285fs)
|
rs1057517729
|
|
NM_000098.3(CPT2):c.896G>A (p.Trp299Ter)
|
rs757881397
|
|
NM_000098.3(CPT2):c.913_1172del (p.Lys305fs)
|
|
|
NM_000098.3(CPT2):c.963del (p.Val322fs)
|
|
|
NM_000098.3(CPT2):c.975_976del (p.Cys326fs)
|
|
|
NM_000098.3(CPT2):c.989del (p.Phe330fs)
|
rs1553169716
|
|
NM_000098.3(CPT2):c.989dup (p.Ile332fs)
|
rs1553169716
|
|