NM_007214.5(SEC63):c.*1705G>A
|
rs672444
|
0.97811
|
NM_007214.5(SEC63):c.*3580G>A
|
rs847120
|
0.96448
|
NM_007214.5(SEC63):c.*3431A>C
|
rs592989
|
0.95947
|
NM_007214.5(SEC63):c.*3393C>T
|
rs592939
|
0.95867
|
NM_007214.5(SEC63):c.-77C>T
|
rs2272884
|
0.94610
|
NM_007214.5(SEC63):c.*2662G>A
|
rs513325
|
0.88235
|
NM_007214.5(SEC63):c.*123T>A
|
rs503068
|
0.88225
|
NM_007214.5(SEC63):c.*1526T>C
|
rs557911
|
0.88213
|
NM_007214.5(SEC63):c.*1398A>C
|
rs556907
|
0.88211
|
NM_007214.5(SEC63):c.564C>T (p.Asn188=)
|
rs675117
|
0.87051
|
NM_007214.5(SEC63):c.*1901A>G
|
rs10872020
|
0.77629
|
NM_007214.5(SEC63):c.1936-7_1936-5dup
|
rs766716921
|
0.15112
|
NM_007214.5(SEC63):c.*3497A>G
|
rs6933329
|
0.12986
|
NM_007214.5(SEC63):c.*2811C>T
|
rs74799313
|
0.04057
|
NM_007214.5(SEC63):c.*3334C>T
|
rs112894937
|
0.03601
|
NM_007214.5(SEC63):c.1666G>A (p.Val556Ile)
|
rs17854547
|
0.03299
|
NM_007214.5(SEC63):c.*3170C>T
|
rs12529777
|
0.01848
|
NM_007214.5(SEC63):c.2027C>T (p.Thr676Ile)
|
rs61733388
|
0.01749
|
NM_007214.5(SEC63):c.340-12del
|
rs58827902
|
0.01010
|
NM_007214.5(SEC63):c.1936-4C>T
|
rs1456647065
|
0.00789
|
NM_007214.5(SEC63):c.*3895T>C
|
rs12661966
|
0.00781
|
NM_007214.5(SEC63):c.*3128G>A
|
rs114322175
|
0.00730
|
NM_007214.5(SEC63):c.*2376A>T
|
rs78776458
|
0.00729
|
NM_007214.5(SEC63):c.*256T>C
|
rs111637159
|
0.00617
|
NM_007214.5(SEC63):c.*861A>G
|
rs9480810
|
0.00459
|
NM_007214.5(SEC63):c.*411C>T
|
rs140498555
|
0.00417
|
NM_007214.5(SEC63):c.*3390G>A
|
rs142738269
|
0.00408
|
NM_007214.5(SEC63):c.*1839C>G
|
rs150031834
|
0.00334
|
NM_007214.5(SEC63):c.*2456G>A
|
rs151325651
|
0.00328
|
NM_007214.5(SEC63):c.*3948A>T
|
rs374547546
|
0.00283
|
NM_007214.5(SEC63):c.2134T>C (p.Leu712=)
|
rs61733387
|
0.00201
|
NM_007214.5(SEC63):c.*1113_*1115del
|
rs541858963
|
0.00198
|
NM_007214.5(SEC63):c.*3127C>T
|
rs541730962
|
0.00166
|
NM_007214.5(SEC63):c.*3501A>G
|
rs377612532
|
0.00149
|
NM_007214.5(SEC63):c.*3498C>T
|
rs577860076
|
0.00148
|
NM_007214.5(SEC63):c.*3502C>T
|
rs181941841
|
0.00138
|
NM_007214.5(SEC63):c.*3510T>A
|
rs555871275
|
0.00097
|
NM_007214.5(SEC63):c.*3489A>G
|
rs1027018659
|
0.00096
|
NM_007214.5(SEC63):c.1278C>T (p.Phe426=)
|
rs146559698
|
0.00093
|
NM_007214.5(SEC63):c.340-7T>C
|
rs1569557
|
0.00081
|
NM_007214.5(SEC63):c.*1071G>C
|
rs538845937
|
0.00077
|
NM_007214.5(SEC63):c.1441-4C>G
|
rs200112157
|
0.00071
|
NM_007214.5(SEC63):c.*2886A>C
|
rs182441835
|
0.00063
|
NM_007214.5(SEC63):c.1674T>C (p.Asn558=)
|
rs143570743
|
0.00060
|
NM_007214.5(SEC63):c.*2046C>G
|
rs139373195
|
0.00059
|
NM_007214.5(SEC63):c.*1037A>G
|
rs536922747
|
0.00058
|
NM_007214.5(SEC63):c.*129G>A
|
rs552904217
|
0.00058
|
NM_007214.5(SEC63):c.*936C>T
|
rs141309531
|
0.00049
|
NM_007214.5(SEC63):c.*1108A>G
|
rs560882192
|
0.00048
|
NM_007214.5(SEC63):c.230T>C (p.Ile77Thr)
|
rs140251976
|
0.00036
|
NM_007214.5(SEC63):c.*2086G>C
|
rs550478845
|
0.00034
|
NM_007214.4(SEC63):c.-237C>T
|
rs563388363
|
0.00030
|
NM_007214.5(SEC63):c.*2465C>T
|
rs558416401
|
0.00030
|
NM_007214.5(SEC63):c.*1230T>C
|
rs188437808
|
0.00024
|
NM_007214.5(SEC63):c.*358T>C
|
rs529945456
|
0.00024
|
NM_007214.5(SEC63):c.574-20C>G
|
rs369895256
|
0.00024
|
NM_007214.5(SEC63):c.*3133C>A
|
rs890357088
|
0.00023
|
NM_007214.5(SEC63):c.1210-7T>A
|
rs201986291
|
0.00019
|
NM_007214.5(SEC63):c.2034+10A>G
|
rs200406751
|
0.00019
|
NM_007214.5(SEC63):c.*1612T>C
|
rs76842245
|
0.00018
|
NM_007214.5(SEC63):c.*1941C>T
|
rs886060944
|
0.00018
|
NM_007214.5(SEC63):c.*2624T>C
|
rs368337970
|
0.00016
|
NM_007214.5(SEC63):c.*514T>C
|
rs557190642
|
0.00016
|
NM_007214.5(SEC63):c.340-8T>C
|
rs1569556
|
0.00016
|
NM_007214.5(SEC63):c.*3469T>G
|
rs540628373
|
0.00015
|
NM_007214.5(SEC63):c.1984A>G (p.Thr662Ala)
|
rs201416954
|
0.00014
|
NM_007214.5(SEC63):c.*1920_*1921insC
|
rs886060948
|
0.00013
|
NM_007214.5(SEC63):c.*1685A>C
|
rs558069212
|
0.00012
|
NM_007214.5(SEC63):c.2025T>A (p.Asp675Glu)
|
rs141211769
|
0.00012
|
NM_007214.5(SEC63):c.*874A>G
|
rs756408316
|
0.00010
|
NM_007214.5(SEC63):c.807G>A (p.Thr269=)
|
rs182467867
|
0.00009
|
NM_007214.5(SEC63):c.*3819A>G
|
rs1030448903
|
0.00008
|
NM_007214.5(SEC63):c.*2131C>T
|
rs935591622
|
0.00007
|
NM_007214.5(SEC63):c.*257A>G
|
rs148053936
|
0.00006
|
NM_007214.5(SEC63):c.*3032A>G
|
rs923296669
|
0.00006
|
NM_007214.5(SEC63):c.*3704C>G
|
rs554141897
|
0.00006
|
NM_007214.5(SEC63):c.*3772G>A
|
rs886060935
|
0.00006
|
NM_007214.5(SEC63):c.237G>A (p.Leu79=)
|
rs146134069
|
0.00006
|
NM_007214.4(SEC63):c.-268C>A
|
rs565916525
|
0.00005
|
NM_007214.5(SEC63):c.*3210C>T
|
rs570848637
|
0.00004
|
NM_007214.5(SEC63):c.*907C>T
|
rs571893658
|
0.00004
|
NM_007214.5(SEC63):c.1176G>A (p.Glu392=)
|
rs61754483
|
0.00004
|
NM_007214.5(SEC63):c.453-11T>C
|
rs374073392
|
0.00004
|
NM_007214.5(SEC63):c.*2876T>C
|
rs375514344
|
0.00003
|
NM_007214.5(SEC63):c.*3107T>C
|
rs778940501
|
0.00003
|
NM_007214.5(SEC63):c.*3116T>C
|
rs994941537
|
0.00003
|
NM_007214.5(SEC63):c.1441-5C>T
|
rs370312823
|
0.00003
|
NM_007214.5(SEC63):c.2205G>C (p.Gly735=)
|
rs761321161
|
0.00003
|
NM_007214.5(SEC63):c.*1113T>C
|
rs886060953
|
0.00002
|
NM_007214.5(SEC63):c.*2522G>C
|
rs886060943
|
0.00002
|
NM_007214.5(SEC63):c.*549C>T
|
rs1251167096
|
0.00002
|
NM_007214.5(SEC63):c.910C>A (p.Leu304Ile)
|
rs745328381
|
0.00002
|
NM_007214.4(SEC63):c.-215G>A
|
rs532894703
|
0.00001
|
NM_007214.4(SEC63):c.-264T>C
|
rs565275212
|
0.00001
|
NM_007214.5(SEC63):c.*1655G>A
|
rs1261761696
|
0.00001
|
NM_007214.5(SEC63):c.*2301A>G
|
rs1288272637
|
0.00001
|
NM_007214.5(SEC63):c.*24T>C
|
rs1262061519
|
0.00001
|
NM_007214.5(SEC63):c.*2607G>C
|
rs549810875
|
0.00001
|
NM_007214.5(SEC63):c.*2783G>A
|
rs1390017904
|
0.00001
|
NM_007214.5(SEC63):c.*2833A>C
|
rs886060942
|
0.00001
|
NM_007214.5(SEC63):c.*3432dup
|
rs886060939
|
0.00001
|
NM_007214.5(SEC63):c.*437A>G
|
rs1786126405
|
0.00001
|
NM_007214.5(SEC63):c.1441-9G>T
|
rs767036637
|
0.00001
|
NM_007214.5(SEC63):c.173G>A (p.Trp58Ter)
|
rs119103233
|
0.00001
|
NM_007214.5(SEC63):c.2006_2007del (p.His669fs)
|
rs1403483213
|
0.00001
|
NM_007214.5(SEC63):c.2028A>G (p.Thr676=)
|
rs781747090
|
0.00001
|
NM_007214.5(SEC63):c.292C>T (p.Arg98Ter)
|
rs768568123
|
0.00001
|
NM_007214.5(SEC63):c.374G>A (p.Arg125His)
|
rs765447143
|
0.00001
|
NM_007214.5(SEC63):c.452+1G>A
|
rs869312977
|
0.00001
|
NM_007214.5(SEC63):c.452+3A>G
|
rs767207844
|
0.00001
|
NM_007214.5(SEC63):c.452C>T (p.Ala151Val)
|
rs1360860173
|
0.00001
|
NM_007214.5(SEC63):c.828+13T>C
|
rs886060955
|
0.00001
|
NM_007214.4(SEC63):c.*3959dupT
|
rs112734053
|
|
NM_007214.5(SEC63):c.*1061G>A
|
rs1786109364
|
|
NM_007214.5(SEC63):c.*1178T>G
|
rs114792201
|
|
NM_007214.5(SEC63):c.*1343G>A
|
rs886060952
|
|
NM_007214.5(SEC63):c.*1420T>G
|
rs1786099842
|
|
NM_007214.5(SEC63):c.*1433T>C
|
rs886060951
|
|
NM_007214.5(SEC63):c.*1471A>G
|
rs886060950
|
|
NM_007214.5(SEC63):c.*1475C>T
|
rs1786097916
|
|
NM_007214.5(SEC63):c.*1568G>A
|
rs1386667349
|
|
NM_007214.5(SEC63):c.*1650G>A
|
rs1048774131
|
|
NM_007214.5(SEC63):c.*1696G>A
|
rs1040060632
|
|
NM_007214.5(SEC63):c.*1725G>C
|
rs1786092371
|
|
NM_007214.5(SEC63):c.*1760T>C
|
rs1786091763
|
|
NM_007214.5(SEC63):c.*1787GTT[1]
|
rs886060949
|
|
NM_007214.5(SEC63):c.*1790_*1793del
|
rs150602806
|
|
NM_007214.5(SEC63):c.*1832A>G
|
rs1583715416
|
|
NM_007214.5(SEC63):c.*1926_*1931del
|
rs55885857
|
|
NM_007214.5(SEC63):c.*1927_*1932del
|
rs772400721
|
|
NM_007214.5(SEC63):c.*1931A>C
|
rs1162139145
|
|
NM_007214.5(SEC63):c.*1931dup
|
rs55885857
|
|
NM_007214.5(SEC63):c.*1932_*1933insA
|
rs886060946
|
|
NM_007214.5(SEC63):c.*1932_*1937del
|
rs886060945
|
|
NM_007214.5(SEC63):c.*1936del
|
rs535127807
|
|
NM_007214.5(SEC63):c.*2041A>G
|
rs1027905260
|
|
NM_007214.5(SEC63):c.*2223G>A
|
rs9986549
|
|
NM_007214.5(SEC63):c.*2287G>T
|
rs1040000139
|
|
NM_007214.5(SEC63):c.*2379G>C
|
rs997269603
|
|
NM_007214.5(SEC63):c.*2479dup
|
rs200116970
|
|
NM_007214.5(SEC63):c.*2504dup
|
rs113337131
|
|
NM_007214.5(SEC63):c.*2618C>A
|
rs1409152408
|
|
NM_007214.5(SEC63):c.*2704A>G
|
rs1786062150
|
|
NM_007214.5(SEC63):c.*2705T>C
|
rs687374
|
|
NM_007214.5(SEC63):c.*273A>C
|
rs1786130714
|
|
NM_007214.5(SEC63):c.*2791T>C
|
rs1786060526
|
|
NM_007214.5(SEC63):c.*2862A>G
|
rs886060941
|
|
NM_007214.5(SEC63):c.*2946C>T
|
rs748298477
|
|
NM_007214.5(SEC63):c.*3031del
|
rs34250899
|
|
NM_007214.5(SEC63):c.*3031dup
|
rs34250899
|
|
NM_007214.5(SEC63):c.*3171G>C
|
rs542434422
|
|
NM_007214.5(SEC63):c.*3430A>G
|
rs1040445530
|
|
NM_007214.5(SEC63):c.*3434A>G
|
rs886060938
|
|
NM_007214.5(SEC63):c.*3456T>C
|
rs1786043838
|
|
NM_007214.5(SEC63):c.*3480del
|
rs56104837
|
|
NM_007214.5(SEC63):c.*3480dup
|
rs56104837
|
|
NM_007214.5(SEC63):c.*3499A>C
|
rs143966094
|
|
NM_007214.5(SEC63):c.*3574_*3575insGAC
|
rs10685655
|
|
NM_007214.5(SEC63):c.*3705T>G
|
rs886060936
|
|
NM_007214.5(SEC63):c.*3800A>G
|
rs886060934
|
|
NM_007214.5(SEC63):c.*396T>A
|
rs368205255
|
|
NM_007214.5(SEC63):c.*396T>C
|
rs368205255
|
|
NM_007214.5(SEC63):c.*432G>A
|
rs970506593
|
|
NM_007214.5(SEC63):c.*432G>T
|
rs970506593
|
|
NM_007214.5(SEC63):c.*577C>T
|
rs761474758
|
|
NM_007214.5(SEC63):c.-148T>G
|
rs1770753156
|
|
NM_007214.5(SEC63):c.1023C>A (p.Cys341Ter)
|
rs2114446923
|
|
NM_007214.5(SEC63):c.105G>A (p.Trp35Ter)
|
rs1011931149
|
|
NM_007214.5(SEC63):c.1094dup (p.Asn365fs)
|
|
|
NM_007214.5(SEC63):c.1118_1126del (p.Ala373_Gln375del)
|
rs2114443516
|
|
NM_007214.5(SEC63):c.1124A>C (p.Gln375Pro)
|
rs1787041288
|
|
NM_007214.5(SEC63):c.1124A>G (p.Gln375Arg)
|
rs1787041288
|
|
NM_007214.5(SEC63):c.1188_1191dup (p.Val398fs)
|
rs1787039042
|
|
NM_007214.5(SEC63):c.1210-18dup
|
rs370485907
|
|
NM_007214.5(SEC63):c.1210-7del
|
rs370485907
|
|
NM_007214.5(SEC63):c.1249G>T (p.Glu417Ter)
|
rs1787002281
|
|
NM_007214.5(SEC63):c.125-13del
|
rs565329945
|
|
NM_007214.5(SEC63):c.133C>T (p.Arg45Ter)
|
rs2114487759
|
|
NM_007214.5(SEC63):c.1434_1435del (p.Met479fs)
|
rs2114434218
|
|
NM_007214.5(SEC63):c.1440+1G>A
|
|
|
NM_007214.5(SEC63):c.1441-10C>T
|
rs780555443
|
|
NM_007214.5(SEC63):c.1577C>A (p.Ser526Ter)
|
rs779331877
|
|
NM_007214.5(SEC63):c.1605dup (p.Pro536fs)
|
rs752868449
|
|
NM_007214.5(SEC63):c.1625_1626insTAC (p.Pro542_Gln543insThr)
|
rs779139584
|
|
NM_007214.5(SEC63):c.1629G>C (p.Gln543His)
|
rs2114426916
|
|
NM_007214.5(SEC63):c.1675-15G>C
|
rs886060954
|
|
NM_007214.5(SEC63):c.1697AAG[2] (p.Glu568del)
|
rs752018806
|
|
NM_007214.5(SEC63):c.1810A>T (p.Lys604Ter)
|
rs2114406531
|
|
NM_007214.5(SEC63):c.1817_1821del (p.Asn606fs)
|
rs2114406508
|
|
NM_007214.5(SEC63):c.1864C>T (p.Arg622Ter)
|
rs2114403750
|
|
NM_007214.5(SEC63):c.1895C>A (p.Ser632Ter)
|
rs768615942
|
|
NM_007214.5(SEC63):c.1936-11_1936-9del
|
rs749125299
|
|
NM_007214.5(SEC63):c.1936-27_1936-25dup
|
rs749125299
|
|
NM_007214.5(SEC63):c.1936-27_1936-26dup
|
rs749125299
|
|
NM_007214.5(SEC63):c.1936-2A>T
|
|
|
NM_007214.5(SEC63):c.1936-4_1936-3insT
|
rs773608064
|
|
NM_007214.5(SEC63):c.1936-4_1936-3insTT
|
rs773608064
|
|
NM_007214.5(SEC63):c.1936-4_1936-3insTTT
|
rs773608064
|
|
NM_007214.5(SEC63):c.1936-7_1936-6dup
|
rs766716921
|
|
NM_007214.5(SEC63):c.1936-7dup
|
rs766716921
|
|
NM_007214.5(SEC63):c.1942C>T (p.Gln648Ter)
|
rs773300876
|
|
NM_007214.5(SEC63):c.2026A>G (p.Thr676Ala)
|
rs755716600
|
|
NM_007214.5(SEC63):c.220del (p.Thr73_Val74insTer)
|
rs869312978
|
|
NM_007214.5(SEC63):c.225-10T>A
|
rs886060958
|
|
NM_007214.5(SEC63):c.286dup (p.Thr96fs)
|
rs1787640678
|
|
NM_007214.5(SEC63):c.340-10T>C
|
rs532887617
|
|
NM_007214.5(SEC63):c.340-11T>C
|
rs77730234
|
|
NM_007214.5(SEC63):c.340-12G>C
|
rs2064201
|
|
NM_007214.5(SEC63):c.340-12_340-10del
|
rs200904488
|
|
NM_007214.5(SEC63):c.340-12_340-11del
|
rs139413431
|
|
NM_007214.5(SEC63):c.340-12_340-7delinsCCCC
|
rs1554237221
|
|
NM_007214.5(SEC63):c.340-12_340-8del
|
rs747514864
|
|
NM_007214.5(SEC63):c.340-12dup
|
rs886060957
|
|
NM_007214.5(SEC63):c.340-15_340-13del
|
rs150022935
|
|
NM_007214.5(SEC63):c.340-6_340-4dup
|
rs142388422
|
|
NM_007214.5(SEC63):c.340-6_340-5dup
|
rs142388422
|
|
NM_007214.5(SEC63):c.340-8_340-7del
|
rs66526324
|
|
NM_007214.5(SEC63):c.340-9_340-7del
|
rs66526324
|
|
NM_007214.5(SEC63):c.359T>C (p.Ile120Thr)
|
rs2114476499
|
|
NM_007214.5(SEC63):c.359_366del (p.Ile120fs)
|
rs2114476485
|
|
NM_007214.5(SEC63):c.422del (p.Met141fs)
|
rs2114476431
|
|
NM_007214.5(SEC63):c.442_443insA (p.Ala148fs)
|
rs886041027
|
|
NM_007214.5(SEC63):c.502G>C (p.Asp168His)
|
rs2114461992
|
|
NM_007214.5(SEC63):c.514+1G>A
|
rs1554236269
|
|
NM_007214.5(SEC63):c.622G>C (p.Val208Leu)
|
rs2114458613
|
|
NM_007214.5(SEC63):c.636G>A (p.Trp212Ter)
|
rs2114454119
|
|
NM_007214.5(SEC63):c.646A>G (p.Ile216Val)
|
rs2114454091
|
|
NM_007214.5(SEC63):c.693_694dup (p.Thr232fs)
|
rs2114453997
|
|
NM_007214.5(SEC63):c.715C>T (p.Arg239Ter)
|
rs755795110
|
|
NM_007214.5(SEC63):c.733+1G>A
|
rs886041028
|
|
NM_007214.5(SEC63):c.882C>T (p.Thr294=)
|
rs746631731
|
|
NM_007214.5(SEC63):c.958G>T (p.Glu320Ter)
|
rs749842172
|
|
NM_007214.5(SEC63):c.961+14C>T
|
rs143606782
|
|
NM_007214.5(SEC63):c.964del (p.Gln322fs)
|
rs2114447040
|
|
NM_007214.5(SEC63):c.979A>G (p.Lys327Glu)
|
rs559390998
|
|