NM_000144.5(FXN):c.54A>G (p.Pro18=)
|
rs2481598
|
0.98511
|
NM_004715.5(CTDP1):c.2817T>C (p.Asp939=)
|
rs626169
|
0.90284
|
NM_004715.5(CTDP1):c.181T>G (p.Ser61Ala)
|
rs17855830
|
0.63679
|
NM_014053.4(FLVCR1):c.*1151A>G
|
rs6682947
|
0.60512
|
NM_014053.4(FLVCR1):c.*339T>G
|
rs12074192
|
0.60505
|
NM_014053.4(FLVCR1):c.*1609A>G
|
rs12405742
|
0.59824
|
NM_022464.5(SIL1):c.153A>G (p.Thr51=)
|
rs3088052
|
0.50252
|
NM_014053.4(FLVCR1):c.154G>C (p.Ala52Pro)
|
rs11120047
|
0.45814
|
NM_014053.4(FLVCR1):c.-86C>T
|
rs2201603
|
0.45780
|
NM_014053.4(FLVCR1):c.*2813G>A
|
rs1284854
|
0.45117
|
NM_014053.4(FLVCR1):c.*2578G>A
|
rs1284856
|
0.42748
|
NM_014053.4(FLVCR1):c.*2709T>C
|
rs1284855
|
0.42731
|
NM_014053.4(FLVCR1):c.*2419G>A
|
rs10864027
|
0.41090
|
NM_014053.4(FLVCR1):c.1631C>T (p.Thr544Met)
|
rs3207090
|
0.38895
|
NM_014053.4(FLVCR1):c.*1826C>T
|
rs12567976
|
0.38865
|
NM_014053.4(FLVCR1):c.*1793C>T
|
rs12567975
|
0.38742
|
NM_017791.3(FLVCR2):c.648C>G (p.Ser216=)
|
rs2287017
|
0.37676
|
NM_017791.3(FLVCR2):c.47T>C (p.Val16Ala)
|
rs2287015
|
0.37653
|
NM_014053.4(FLVCR1):c.*788C>T
|
rs6670064
|
0.36556
|
NM_014053.4(FLVCR1):c.*626T>A
|
rs11582817
|
0.36511
|
NM_017791.3(FLVCR2):c.-96T>C
|
rs11845734
|
0.36446
|
NM_021830.5(TWNK):c.-605G>T
|
rs3740484
|
0.35155
|
NM_021830.5(TWNK):c.*766A>T
|
rs3740488
|
0.28823
|
NM_021830.5(TWNK):c.1593-5C>T
|
rs3740485
|
0.28642
|
NM_021830.5(TWNK):c.1593-3T>C
|
rs3740486
|
0.28631
|
NM_014053.4(FLVCR1):c.*844T>C
|
rs12565125
|
0.22460
|
NM_014053.4(FLVCR1):c.*931C>T
|
rs12567713
|
0.21766
|
NM_014053.4(FLVCR1):c.1307+19T>A
|
rs2291772
|
0.21660
|
NM_014053.4(FLVCR1):c.*1106C>T
|
rs12567728
|
0.21651
|
NM_014053.4(FLVCR1):c.*673G>A
|
rs41301027
|
0.21642
|
NM_014053.4(FLVCR1):c.1593+9T>C
|
rs17019870
|
0.21623
|
NM_014053.4(FLVCR1):c.*2968G>A
|
rs10902
|
0.21622
|
NM_014053.4(FLVCR1):c.*2908G>A
|
rs1284853
|
0.21097
|
NM_014053.4(FLVCR1):c.*3313G>T
|
rs15903
|
0.21069
|
NM_004715.5(CTDP1):c.978G>A (p.Thr326=)
|
rs599554
|
0.20817
|
NM_004715.5(CTDP1):c.1461G>A (p.Pro487=)
|
rs2126082
|
0.18278
|
NM_017791.3(FLVCR2):c.376C>T (p.Leu126=)
|
rs8011292
|
0.17455
|
NM_014053.4(FLVCR1):c.*1600G>A
|
rs55793082
|
0.16870
|
NM_014053.4(FLVCR1):c.*1940G>A
|
rs6697126
|
0.08778
|
NM_017791.3(FLVCR2):c.-71C>T
|
rs11849590
|
0.08526
|
NM_014053.4(FLVCR1):c.*353A>G
|
rs6679775
|
0.08452
|
NM_021830.5(TWNK):c.*521C>G
|
rs11542131
|
0.08029
|
NM_022464.5(SIL1):c.-6C>G
|
rs11555154
|
0.06144
|
NM_014053.4(FLVCR1):c.*1566A>T
|
rs113327053
|
0.05268
|
NM_021830.5(TWNK):c.1102G>A (p.Val368Ile)
|
rs17113613
|
0.04615
|
NM_014053.4(FLVCR1):c.*1751C>T
|
rs187971996
|
0.02794
|
NM_014053.4(FLVCR1):c.1272T>C (p.Tyr424=)
|
rs17677416
|
0.02755
|
NM_014053.4(FLVCR1):c.*377T>C
|
rs41258034
|
0.02608
|
NM_022464.5(SIL1):c.1029+6T>C
|
rs57028146
|
0.02536
|
NM_022464.5(SIL1):c.394A>C (p.Lys132Gln)
|
rs61745568
|
0.02524
|
NM_014053.4(FLVCR1):c.*891A>G
|
rs41301029
|
0.02342
|
NM_014053.4(FLVCR1):c.*855T>C
|
rs564661630
|
0.01999
|
NM_017791.3(FLVCR2):c.*991T>C
|
rs117346030
|
0.01931
|
NM_017791.3(FLVCR2):c.*1040C>T
|
rs8017131
|
0.01752
|
NM_017791.3(FLVCR2):c.1441G>A (p.Ala481Thr)
|
rs35126362
|
0.01730
|
NM_014053.4(FLVCR1):c.-156del
|
rs373452417
|
0.01681
|
NM_004715.5(CTDP1):c.492+7C>T
|
rs115851227
|
0.01593
|
NM_017791.3(FLVCR2):c.*1098C>A
|
rs8017287
|
0.01484
|
NM_021830.5(TWNK):c.*204G>A
|
rs61871507
|
0.01328
|
NM_014053.4(FLVCR1):c.*2059T>C
|
rs6688825
|
0.01209
|
NM_017791.3(FLVCR2):c.*187T>C
|
rs75002047
|
0.01000
|
NM_017791.3(FLVCR2):c.-111T>C
|
rs80001297
|
0.00973
|
NM_014053.4(FLVCR1):c.*1544A>G
|
rs6685793
|
0.00936
|
NM_017791.3(FLVCR2):c.835C>T (p.Pro279Ser)
|
rs45479302
|
0.00830
|
NM_021830.5(TWNK):c.-241C>T
|
rs113159821
|
0.00734
|
NM_022464.5(SIL1):c.239A>G (p.Gln80Arg)
|
rs35581768
|
0.00706
|
NM_014053.4(FLVCR1):c.*2860C>A
|
rs138737189
|
0.00702
|
NM_022464.5(SIL1):c.454-6C>T
|
rs58624842
|
0.00601
|
NM_014053.4(FLVCR1):c.*500G>A
|
rs41301023
|
0.00597
|
NM_017791.3(FLVCR2):c.*573C>T
|
rs116699854
|
0.00556
|
NM_017791.3(FLVCR2):c.953-14G>A
|
rs115200097
|
0.00554
|
NM_014053.4(FLVCR1):c.*3241C>T
|
rs113198161
|
0.00493
|
NM_022464.5(SIL1):c.368C>T (p.Thr123Ile)
|
rs115800498
|
0.00470
|
NM_017791.3(FLVCR2):c.*254T>C
|
rs115212564
|
0.00463
|
NM_021830.5(TWNK):c.*455C>T
|
rs148810959
|
0.00460
|
NM_021830.5(TWNK):c.-650A>G
|
rs187213541
|
0.00454
|
NM_014053.4(FLVCR1):c.*1739C>T
|
rs191112278
|
0.00444
|
NM_022464.5(SIL1):c.189T>G (p.Asp63Glu)
|
rs115591710
|
0.00413
|
NM_014053.4(FLVCR1):c.-87G>A
|
rs41296692
|
0.00410
|
NM_022464.5(SIL1):c.900C>T (p.Phe300=)
|
rs35080367
|
0.00410
|
NM_014053.4(FLVCR1):c.*1317A>G
|
rs145011972
|
0.00394
|
NM_014053.4(FLVCR1):c.*166G>A
|
rs41301017
|
0.00347
|
NM_014053.4(FLVCR1):c.*3032G>T
|
rs76321605
|
0.00330
|
NM_014053.4(FLVCR1):c.*2540T>C
|
rs79275553
|
0.00322
|
NM_022464.5(SIL1):c.152C>T (p.Thr51Ile)
|
rs144192049
|
0.00310
|
NM_017791.3(FLVCR2):c.*756A>G
|
rs78654241
|
0.00279
|
NM_014053.4(FLVCR1):c.*2164G>A
|
rs143656000
|
0.00270
|
NM_021830.5(TWNK):c.*301C>T
|
rs41291468
|
0.00264
|
NM_004715.5(CTDP1):c.2070C>T (p.Gly690=)
|
rs145726709
|
0.00262
|
NM_014053.4(FLVCR1):c.937G>A (p.Asp313Asn)
|
rs139175550
|
0.00251
|
NM_021830.5(TWNK):c.*419A>T
|
rs187553791
|
0.00223
|
NM_022464.5(SIL1):c.1351G>A (p.Gly451Ser)
|
rs34214251
|
0.00222
|
NM_014053.4(FLVCR1):c.*3226T>C
|
rs114795134
|
0.00221
|
NM_014053.4(FLVCR1):c.952G>A (p.Glu318Lys)
|
rs41297444
|
0.00210
|
NM_022464.5(SIL1):c.1030-14G>A
|
rs184154914
|
0.00148
|
NM_021830.5(TWNK):c.639C>T (p.Gly213=)
|
rs11542130
|
0.00135
|
NM_014053.4(FLVCR1):c.738+9T>C
|
rs41296696
|
0.00133
|
NM_014053.4(FLVCR1):c.*1627T>G
|
rs529311781
|
0.00130
|
NM_021830.5(TWNK):c.1697A>G (p.Lys566Arg)
|
rs116046810
|
0.00126
|
NM_021830.5(TWNK):c.1735-14C>A
|
rs201795189
|
0.00121
|
NM_022464.5(SIL1):c.865-7C>T
|
rs141796576
|
0.00121
|
NM_017791.3(FLVCR2):c.*1517T>C
|
rs114442666
|
0.00113
|
NM_004715.5(CTDP1):c.1219T>C (p.Trp407Arg)
|
rs149090172
|
0.00103
|
NM_014053.4(FLVCR1):c.*1300A>G
|
rs186133334
|
0.00096
|
NM_014053.4(FLVCR1):c.*279T>C
|
rs17019875
|
0.00084
|
NM_014053.4(FLVCR1):c.*284G>A
|
rs41301021
|
0.00080
|
NM_022464.5(SIL1):c.1039G>A (p.Glu347Lys)
|
rs73265454
|
0.00073
|
NM_014053.4(FLVCR1):c.*1454G>A
|
rs565177366
|
0.00070
|
NM_014053.4(FLVCR1):c.*32T>C
|
rs374779364
|
0.00068
|
NM_014053.4(FLVCR1):c.1657T>G (p.Ser553Ala)
|
rs149887215
|
0.00064
|
NM_017791.3(FLVCR2):c.*18C>T
|
rs369026585
|
0.00059
|
NM_014053.4(FLVCR1):c.*2443C>T
|
rs117380165
|
0.00056
|
NM_014053.4(FLVCR1):c.*1920T>A
|
rs115914498
|
0.00052
|
NM_022464.5(SIL1):c.573G>A (p.Lys191=)
|
rs148927511
|
0.00052
|
NM_021830.5(TWNK):c.*709C>G
|
rs41291470
|
0.00046
|
NM_021830.5(TWNK):c.384C>T (p.Ser128=)
|
rs148234280
|
0.00045
|
NM_021830.5(TWNK):c.76G>A (p.Gly26Ser)
|
rs577209883
|
0.00041
|
NM_014053.4(FLVCR1):c.*1954A>G
|
rs567288372
|
0.00040
|
NM_021830.5(TWNK):c.*453G>A
|
rs769950933
|
0.00040
|
NM_022464.5(SIL1):c.933G>A (p.Gly311=)
|
rs61744666
|
0.00040
|
NM_017791.3(FLVCR2):c.*1070T>C
|
rs533763314
|
0.00039
|
NM_017791.3(FLVCR2):c.*1071G>T
|
rs553617789
|
0.00039
|
NM_021830.5(TWNK):c.241C>G (p.Leu81Val)
|
rs145068570
|
0.00033
|
NM_022464.5(SIL1):c.1161G>A (p.Ala387=)
|
rs140171020
|
0.00033
|
NM_014053.4(FLVCR1):c.1092+5G>A
|
rs556788423
|
0.00032
|
NM_014053.4(FLVCR1):c.1158T>G (p.Ile386Met)
|
rs149834738
|
0.00032
|
NM_022464.5(SIL1):c.984C>T (p.Leu328=)
|
rs368666457
|
0.00029
|
NM_017791.3(FLVCR2):c.421G>A (p.Val141Met)
|
rs193042691
|
0.00028
|
NM_021830.5(TWNK):c.1523A>G (p.Tyr508Cys)
|
rs80356540
|
0.00028
|
NM_021830.5(TWNK):c.1527C>T (p.Asp509=)
|
rs62626272
|
0.00028
|
NM_022464.5(SIL1):c.1167C>T (p.Pro389=)
|
rs199890503
|
0.00028
|
NM_022464.5(SIL1):c.1206C>T (p.Gly402=)
|
rs146164392
|
0.00028
|
NM_014053.4(FLVCR1):c.595C>T (p.Leu199Phe)
|
rs41296694
|
0.00026
|
NM_021830.5(TWNK):c.-592C>T
|
rs774214514
|
0.00026
|
NM_017791.3(FLVCR2):c.*910C>A
|
rs549933844
|
0.00021
|
NM_021830.5(TWNK):c.1042G>A (p.Gly348Arg)
|
rs62626271
|
0.00021
|
NM_021830.5(TWNK):c.1609T>C (p.Tyr537His)
|
rs144001072
|
0.00021
|
NM_014053.4(FLVCR1):c.*2189G>A
|
rs183774878
|
0.00020
|
NM_022464.5(SIL1):c.1232G>A (p.Arg411His)
|
rs192255604
|
0.00020
|
NM_017791.3(FLVCR2):c.*155C>T
|
rs562468033
|
0.00019
|
NM_017791.3(FLVCR2):c.905C>A (p.Ala302Asp)
|
rs183200579
|
0.00019
|
NM_022464.5(SIL1):c.192C>T (p.Ala64=)
|
rs148651377
|
0.00019
|
NM_017791.3(FLVCR2):c.286A>G (p.Met96Val)
|
rs199805789
|
0.00018
|
NM_022464.5(SIL1):c.310C>G (p.Leu104Val)
|
rs150892227
|
0.00018
|
NM_022464.5(SIL1):c.699T>C (p.Asn233=)
|
rs140891877
|
0.00017
|
NM_017791.3(FLVCR2):c.*1633A>C
|
rs552943781
|
0.00016
|
NM_017791.3(FLVCR2):c.953-15C>T
|
rs188707531
|
0.00016
|
NM_022464.5(SIL1):c.424G>C (p.Ala142Pro)
|
rs142987777
|
0.00016
|
NM_021830.5(TWNK):c.-418C>T
|
rs750659283
|
0.00015
|
NM_021830.5(TWNK):c.1101C>T (p.Ile367=)
|
rs200798080
|
0.00015
|
NM_014053.4(FLVCR1):c.*2409C>T
|
rs1015419064
|
0.00014
|
NM_014053.4(FLVCR1):c.*3260T>C
|
rs183392554
|
0.00014
|
NM_021830.5(TWNK):c.*341G>A
|
rs1007423847
|
0.00014
|
NM_014053.4(FLVCR1):c.*569C>G
|
rs185115842
|
0.00013
|
NM_014053.4(FLVCR1):c.*657A>G
|
rs758210046
|
0.00013
|
NM_021830.5(TWNK):c.-290G>C
|
rs62626270
|
0.00013
|
NM_014053.4(FLVCR1):c.*2887C>T
|
rs186854246
|
0.00011
|
NM_014053.4(FLVCR1):c.1525+12C>T
|
rs372644357
|
0.00011
|
NM_017791.3(FLVCR2):c.727C>T (p.Arg243Trp)
|
rs146668840
|
0.00011
|
NM_022464.5(SIL1):c.103C>G (p.Leu35Val)
|
rs759591537
|
0.00011
|
NM_014053.4(FLVCR1):c.*2218C>T
|
rs886045939
|
0.00010
|
NM_017791.3(FLVCR2):c.*675A>G
|
rs1025714059
|
0.00010
|
NM_022464.5(SIL1):c.1326C>T (p.Asp442=)
|
rs375567857
|
0.00010
|
NM_022464.5(SIL1):c.724G>A (p.Val242Met)
|
rs545999438
|
0.00010
|
NM_022464.5(SIL1):c.849C>T (p.Leu283=)
|
rs372816951
|
0.00010
|
NM_014053.4(FLVCR1):c.*2480T>G
|
rs886045941
|
0.00009
|
NM_017791.3(FLVCR2):c.*510A>G
|
rs182904017
|
0.00009
|
NM_021830.5(TWNK):c.-470G>A
|
rs886046626
|
0.00009
|
NM_021830.5(TWNK):c.2050A>C (p.Lys684Gln)
|
rs369223258
|
0.00009
|
NM_022464.5(SIL1):c.142A>C (p.Thr48Pro)
|
rs185697854
|
0.00009
|
NM_022464.5(SIL1):c.274C>T (p.Arg92Trp)
|
rs149242794
|
0.00009
|
NM_022464.5(SIL1):c.993C>T (p.Arg331=)
|
rs201009798
|
0.00009
|
NM_021830.5(TWNK):c.1190A>G (p.Asp397Gly)
|
rs751144474
|
0.00008
|
NM_022464.5(SIL1):c.1022C>T (p.Thr341Met)
|
rs372399027
|
0.00008
|
NM_022464.5(SIL1):c.1029+7G>A
|
rs371041584
|
0.00008
|
NM_004715.5(CTDP1):c.431C>T (p.Pro144Leu)
|
rs758618193
|
0.00006
|
NM_014053.4(FLVCR1):c.*114C>T
|
rs184177347
|
0.00006
|
NM_021830.5(TWNK):c.-644A>T
|
rs886046623
|
0.00006
|
NM_021830.5(TWNK):c.1975G>A (p.Ala659Thr)
|
rs370814108
|
0.00006
|
NM_022464.5(SIL1):c.1030-9G>A
|
rs370290043
|
0.00006
|
NM_014053.4(FLVCR1):c.*1422T>A
|
rs138620842
|
0.00005
|
NM_014053.4(FLVCR1):c.*1549A>G
|
rs1332609883
|
0.00005
|
NM_014053.4(FLVCR1):c.*3264T>C
|
rs374214375
|
0.00005
|
NM_014053.4(FLVCR1):c.1525+13G>A
|
rs377087497
|
0.00005
|
NM_017791.3(FLVCR2):c.766A>G (p.Ile256Val)
|
rs559975316
|
0.00005
|
NM_022464.5(SIL1):c.1125A>G (p.Glu375=)
|
rs149424114
|
0.00005
|
NM_000144.5(FXN):c.146C>A (p.Thr49Asn)
|
rs995690945
|
0.00004
|
NM_000144.5(FXN):c.389G>T (p.Gly130Val)
|
rs104894107
|
0.00004
|
NM_014053.4(FLVCR1):c.*8G>A
|
rs886045929
|
0.00004
|
NM_014053.4(FLVCR1):c.-104G>A
|
rs1195891357
|
0.00004
|
NM_014053.4(FLVCR1):c.-36G>A
|
rs886045922
|
0.00004
|
NM_014053.4(FLVCR1):c.2T>C (p.Met1Thr)
|
rs1468358104
|
0.00004
|
NM_017791.3(FLVCR2):c.*1588A>C
|
rs764448107
|
0.00004
|
NM_017791.3(FLVCR2):c.*1672G>A
|
rs569521792
|
0.00004
|
NM_017791.3(FLVCR2):c.164C>T (p.Pro55Leu)
|
rs372243784
|
0.00004
|
NM_021830.5(TWNK):c.*234T>G
|
rs886046633
|
0.00004
|
NM_021830.5(TWNK):c.*438G>C
|
rs886046634
|
0.00004
|
NM_021830.5(TWNK):c.*561C>T
|
rs901722933
|
0.00004
|
NM_021830.5(TWNK):c.*574C>T
|
rs886046636
|
0.00004
|
NM_021830.5(TWNK):c.-549G>A
|
rs886046625
|
0.00004
|
NM_021830.5(TWNK):c.1572C>T (p.His524=)
|
rs774091248
|
0.00004
|
NM_021830.5(TWNK):c.1597G>A (p.Ala533Thr)
|
rs139124415
|
0.00004
|
NM_021830.5(TWNK):c.1953G>A (p.Lys651=)
|
rs771310512
|
0.00004
|
NM_021830.5(TWNK):c.1958C>T (p.Ser653Phe)
|
rs775046032
|
0.00004
|
NM_021830.5(TWNK):c.56G>A (p.Gly19Glu)
|
rs767175342
|
0.00004
|
NM_021830.5(TWNK):c.672T>C (p.Ala224=)
|
rs368863664
|
0.00004
|
NM_022464.5(SIL1):c.1088A>C (p.Gln363Pro)
|
rs563414935
|
0.00004
|
NM_022464.5(SIL1):c.623A>C (p.Asp208Ala)
|
rs145709743
|
0.00004
|
NM_022464.5(SIL1):c.902C>T (p.Pro301Leu)
|
rs1478296366
|
0.00004
|
NM_014053.4(FLVCR1):c.*1174C>T
|
rs886045936
|
0.00003
|
NM_014053.4(FLVCR1):c.*1543C>G
|
rs1665346561
|
0.00003
|
NM_014053.4(FLVCR1):c.*1548T>C
|
rs1572032740
|
0.00003
|
NM_014053.4(FLVCR1):c.*2371A>G
|
rs886045940
|
0.00003
|
NM_014053.4(FLVCR1):c.*3739G>A
|
rs865806240
|
0.00003
|
NM_014053.4(FLVCR1):c.*839T>G
|
rs886045932
|
0.00003
|
NM_014053.4(FLVCR1):c.*923T>C
|
rs886045935
|
0.00003
|
NM_014053.4(FLVCR1):c.1546C>T (p.Arg516Ter)
|
rs538343832
|
0.00003
|
NM_014053.4(FLVCR1):c.361A>G (p.Asn121Asp)
|
rs267606820
|
0.00003
|
NM_014053.4(FLVCR1):c.42C>T (p.Pro14=)
|
rs886045923
|
0.00003
|
NM_014053.4(FLVCR1):c.574T>C (p.Cys192Arg)
|
rs267606821
|
0.00003
|
NM_014053.4(FLVCR1):c.962A>G (p.Tyr321Cys)
|
rs142749772
|
0.00003
|
NM_017791.3(FLVCR2):c.*1319C>T
|
rs541678412
|
0.00003
|
NM_021830.5(TWNK):c.492C>T (p.Leu164=)
|
rs775463083
|
0.00003
|
NM_022464.5(SIL1):c.1282G>C (p.Glu428Gln)
|
rs761095369
|
0.00003
|
NM_022464.5(SIL1):c.1321G>A (p.Glu441Lys)
|
rs779649580
|
0.00003
|
NM_022464.5(SIL1):c.355C>G (p.Leu119Val)
|
rs758512287
|
0.00003
|
NM_022464.5(SIL1):c.930C>T (p.Leu310=)
|
rs147797471
|
0.00003
|
NM_022464.5(SIL1):c.987C>T (p.Ala329=)
|
rs758596676
|
0.00003
|
NM_004715.5(CTDP1):c.440C>T (p.Thr147Met)
|
rs143464787
|
0.00002
|
NM_014053.3(FLVCR1):c.-181A>G
|
rs886045921
|
0.00002
|
NM_014053.4(FLVCR1):c.1059G>A (p.Thr353=)
|
rs550517136
|
0.00002
|
NM_014053.4(FLVCR1):c.832T>C (p.Phe278Leu)
|
rs766483912
|
0.00002
|
NM_014053.4(FLVCR1):c.835T>A (p.Tyr279Asn)
|
rs755239032
|
0.00002
|
NM_017791.3(FLVCR2):c.1278T>C (p.Ala426=)
|
rs762529599
|
0.00002
|
NM_021830.5(TWNK):c.*552G>C
|
rs111434414
|
0.00002
|
NM_021830.5(TWNK):c.*769G>A
|
rs919556945
|
0.00002
|
NM_021830.5(TWNK):c.922T>C (p.Leu308=)
|
rs754389465
|
0.00002
|
NM_000144.5(FXN):c.3G>T (p.Met1Ile)
|
rs104894108
|
0.00001
|
NM_014053.4(FLVCR1):c.*123T>C
|
rs1355815695
|
0.00001
|
NM_014053.4(FLVCR1):c.*1738G>A
|
rs541110364
|
0.00001
|
NM_014053.4(FLVCR1):c.*2188C>T
|
rs552491316
|
0.00001
|
NM_014053.4(FLVCR1):c.*2954T>C
|
rs930665650
|
0.00001
|
NM_014053.4(FLVCR1):c.*3228T>C
|
rs886045943
|
0.00001
|
NM_014053.4(FLVCR1):c.*344T>C
|
rs886045930
|
0.00001
|
NM_014053.4(FLVCR1):c.*665C>T
|
rs1226910181
|
0.00001
|
NM_014053.4(FLVCR1):c.1019C>T (p.Thr340Ile)
|
rs754655924
|
0.00001
|
NM_014053.4(FLVCR1):c.1413G>A (p.Gln471=)
|
rs1391075754
|
0.00001
|
NM_014053.4(FLVCR1):c.1521A>G (p.Leu507=)
|
rs74607124
|
0.00001
|
NM_014053.4(FLVCR1):c.241C>T (p.Leu81=)
|
rs1251133617
|
0.00001
|
NM_014053.4(FLVCR1):c.385A>G (p.Ser129Gly)
|
rs781057835
|
0.00001
|
NM_014053.4(FLVCR1):c.82G>A (p.Gly28Ser)
|
rs746296931
|
0.00001
|
NM_014053.4(FLVCR1):c.981C>T (p.Asn327=)
|
rs886045928
|
0.00001
|
NM_017791.3(FLVCR2):c.*893T>C
|
rs1890444124
|
0.00001
|
NM_017791.3(FLVCR2):c.*952T>G
|
rs747845375
|
0.00001
|
NM_017791.3(FLVCR2):c.1157_1158del (p.Leu386fs)
|
rs779784201
|
0.00001
|
NM_017791.3(FLVCR2):c.1474C>T (p.Arg492Trp)
|
rs139495418
|
0.00001
|
NM_017791.3(FLVCR2):c.277T>C (p.Cys93Arg)
|
rs767398242
|
0.00001
|
NM_017791.3(FLVCR2):c.329_334del (p.Asn110_Phe112delinsIle)
|
rs746459536
|
0.00001
|
NM_017791.3(FLVCR2):c.604G>A (p.Ala202Thr)
|
rs886050786
|
0.00001
|
NM_017791.3(FLVCR2):c.69G>A (p.Ala23=)
|
rs1888525051
|
0.00001
|
NM_017791.3(FLVCR2):c.78C>A (p.Ser26Arg)
|
rs768707435
|
0.00001
|
NM_017791.3(FLVCR2):c.839C>G (p.Pro280Arg)
|
rs267606823
|
0.00001
|
NM_017791.3(FLVCR2):c.947C>G (p.Thr316Ser)
|
rs779117746
|
0.00001
|
NM_021830.5(TWNK):c.*367A>G
|
rs62626296
|
0.00001
|
NM_021830.5(TWNK):c.*619G>A
|
rs886046637
|
0.00001
|
NM_021830.5(TWNK):c.*763T>C
|
rs886046639
|
0.00001
|
NM_021830.5(TWNK):c.1172G>A (p.Arg391His)
|
rs556445621
|
0.00001
|
NM_021830.5(TWNK):c.1196A>G (p.Asn399Ser)
|
rs863223921
|
0.00001
|
NM_021830.5(TWNK):c.1244-14C>T
|
rs758757135
|
0.00001
|
NM_021830.5(TWNK):c.1296G>T (p.Leu432Phe)
|
rs1382315425
|
0.00001
|
NM_021830.5(TWNK):c.1370C>T (p.Thr457Ile)
|
rs80356544
|
0.00001
|
NM_021830.5(TWNK):c.1387C>T (p.Arg463Trp)
|
rs386834146
|
0.00001
|
NM_021830.5(TWNK):c.1488T>C (p.Thr496=)
|
rs549767223
|
0.00001
|
NM_021830.5(TWNK):c.1853C>T (p.Pro618Leu)
|
rs886046632
|
0.00001
|
NM_021830.5(TWNK):c.904C>T (p.Arg302Trp)
|
rs374997012
|
0.00001
|
NM_021830.5(TWNK):c.913G>A (p.Val305Ile)
|
rs753457416
|
0.00001
|
NM_021830.5(TWNK):c.952G>A (p.Ala318Thr)
|
rs80356542
|
0.00001
|
NM_022464.5(SIL1):c.1005G>A (p.Leu335=)
|
rs751082361
|
0.00001
|
NM_022464.5(SIL1):c.1115G>A (p.Gly372Asp)
|
rs727504153
|
0.00001
|
NM_022464.5(SIL1):c.1347G>A (p.Leu449=)
|
rs1458642130
|
0.00001
|
NM_022464.5(SIL1):c.599A>G (p.Glu200Gly)
|
rs879437180
|
0.00001
|
NM_022464.5(SIL1):c.648G>C (p.Met216Ile)
|
rs538181924
|
0.00001
|
NM_022464.5(SIL1):c.69C>T (p.Ala23=)
|
rs756893810
|
0.00001
|
NM_022464.5(SIL1):c.741G>A (p.Ala247=)
|
rs773520401
|
0.00001
|
NM_022464.5(SIL1):c.795C>T (p.Ile265=)
|
rs746589509
|
0.00001
|
NM_022464.5(SIL1):c.807C>T (p.Ala269=)
|
rs200359743
|
0.00001
|
NG_008845.2:g.6725GAA[(200_900)]
|
|
|
NG_008845.2:g.6743_6746delinsGAAGGA[66]GAAG
|
|
|
NM_000144.5(FXN):c.157del (p.Arg53fs)
|
rs141935559
|
|
NM_000144.5(FXN):c.165+1338AAG[180]
|
rs193922938
|
|
NM_000144.5(FXN):c.166-5T>G
|
rs2133102338
|
|
NM_000144.5(FXN):c.317T>G (p.Leu106Ter)
|
rs104894105
|
|
NM_000144.5(FXN):c.371_376delinsTACACCTTGAGGACA (p.Asp124_Ser126delinsValHisLeuGluAspThr)
|
rs886037630
|
|
NM_000144.5(FXN):c.385-2A>G
|
rs140987490
|
|
NM_000144.5(FXN):c.438C>G (p.Asn146Lys)
|
rs146818694
|
|
NM_000144.5(FXN):c.460A>T (p.Ile154Phe)
|
rs104894106
|
|
NM_000144.5(FXN):c.517T>G (p.Trp173Gly)
|
rs56214919
|
|
NM_004715.5(CTDP1):c.1023A>G (p.Arg341=)
|
|
|
NM_004715.5(CTDP1):c.1915A>G (p.Ile639Val)
|
|
|
NM_004715.5(CTDP1):c.2418-207_2418-165dup
|
rs147933855
|
|
NM_004715.5(CTDP1):c.2649G>A (p.Glu883=)
|
rs2086667654
|
|
NM_004715.5(CTDP1):c.398A>G (p.Gln133Arg)
|
|
|
NM_004715.5(CTDP1):c.863+389C>T
|
rs113994102
|
|
NM_014053.3(FLVCR1):c.*4085_*4086delTT
|
rs148146820
|
|
NM_014053.4(FLVCR1):c.*1021A>G
|
rs551356467
|
|
NM_014053.4(FLVCR1):c.*1246T>C
|
rs1665339009
|
|
NM_014053.4(FLVCR1):c.*1880TAAA[10]
|
rs141272551
|
|
NM_014053.4(FLVCR1):c.*1880TAAA[7]
|
rs141272551
|
|
NM_014053.4(FLVCR1):c.*1880TAAA[9]
|
rs141272551
|
|
NM_014053.4(FLVCR1):c.*1952C>A
|
rs886045938
|
|
NM_014053.4(FLVCR1):c.*2061CA[11]
|
rs139242973
|
|
NM_014053.4(FLVCR1):c.*2061CA[12]
|
rs139242973
|
|
NM_014053.4(FLVCR1):c.*2061CA[13]
|
rs139242973
|
|
NM_014053.4(FLVCR1):c.*2061CA[20]
|
rs139242973
|
|
NM_014053.4(FLVCR1):c.*2495C>T
|
rs1665380437
|
|
NM_014053.4(FLVCR1):c.*2591G>C
|
rs904043805
|
|
NM_014053.4(FLVCR1):c.*2672_*2673del
|
rs557446640
|
|
NM_014053.4(FLVCR1):c.*2704T>G
|
rs1665384723
|
|
NM_014053.4(FLVCR1):c.*2949G>A
|
rs756936130
|
|
NM_014053.4(FLVCR1):c.*3127_*3128insGATA
|
rs1553266731
|
|
NM_014053.4(FLVCR1):c.*3129A>T
|
rs202125545
|
|
NM_014053.4(FLVCR1):c.*3130_*3131insAATT
|
rs10655434
|
|
NM_014053.4(FLVCR1):c.*326T>C
|
rs1665314385
|
|
NM_014053.4(FLVCR1):c.*3337G>C
|
rs1665402320
|
|
NM_014053.4(FLVCR1):c.*3482C>G
|
rs12142813
|
|
NM_014053.4(FLVCR1):c.*3598G>C
|
rs886045944
|
|
NM_014053.4(FLVCR1):c.*3756C>T
|
rs1175866801
|
|
NM_014053.4(FLVCR1):c.*384T>C
|
rs886045931
|
|
NM_014053.4(FLVCR1):c.*422G>A
|
rs1665316878
|
|
NM_014053.4(FLVCR1):c.*740T>G
|
rs1665325309
|
|
NM_014053.4(FLVCR1):c.*785C>T
|
rs1665326608
|
|
NM_014053.4(FLVCR1):c.*838CT[2]
|
rs549002753
|
|
NM_014053.4(FLVCR1):c.*847T>C
|
rs1665329642
|
|
NM_014053.4(FLVCR1):c.*855del
|
rs752835859
|
|
NM_014053.4(FLVCR1):c.*855dup
|
rs752835859
|
|
NM_014053.4(FLVCR1):c.-154G>T
|
rs554048351
|
|
NM_014053.4(FLVCR1):c.-166G>C
|
rs1664078764
|
|
NM_014053.4(FLVCR1):c.-168C>G
|
rs1572000804
|
|
NM_014053.4(FLVCR1):c.1235G>C (p.Gly412Ala)
|
rs775587493
|
|
NM_014053.4(FLVCR1):c.1394T>G (p.Leu465Arg)
|
rs1665115556
|
|
NM_014053.4(FLVCR1):c.1413+82TTG[6]
|
rs41300975
|
|
NM_014053.4(FLVCR1):c.1477G>C (p.Gly493Arg)
|
rs1558121050
|
|
NM_014053.4(FLVCR1):c.1516A>T (p.Ile506Leu)
|
rs1665131014
|
|
NM_014053.4(FLVCR1):c.1594-13_1594-10dup
|
rs41301015
|
|
NM_014053.4(FLVCR1):c.236C>T (p.Ala79Val)
|
rs767746826
|
|
NM_014053.4(FLVCR1):c.270C>A (p.Thr90=)
|
rs534403116
|
|
NM_014053.4(FLVCR1):c.375G>A (p.Trp125Ter)
|
|
|
NM_014053.4(FLVCR1):c.51G>C (p.Pro17=)
|
rs886045924
|
|
NM_014053.4(FLVCR1):c.534G>C (p.Leu178=)
|
rs886045925
|
|
NM_014053.4(FLVCR1):c.611T>G (p.Met204Arg)
|
rs886045926
|
|
NM_014053.4(FLVCR1):c.641A>G (p.Gln214Arg)
|
|
|
NM_014053.4(FLVCR1):c.673G>A (p.Ala225Thr)
|
|
|
NM_014053.4(FLVCR1):c.721G>A (p.Ala241Thr)
|
rs267606819
|
|
NM_014053.4(FLVCR1):c.755del (p.Gly252fs)
|
rs773064101
|
|
NM_014053.4(FLVCR1):c.779T>C (p.Val260Ala)
|
rs1664320715
|
|
NM_014053.4(FLVCR1):c.782C>T (p.Pro261Leu)
|
rs886045927
|
|
NM_014053.4(FLVCR1):c.886T>G (p.Phe296Val)
|
rs1294845921
|
|
NM_014889.4(PITRM1):c.2236-1dup
|
rs2132393459
|
|
NM_017791.3(FLVCR2):c.*1003G>A
|
rs549464206
|
|
NM_017791.3(FLVCR2):c.*1322G>A
|
rs1566800405
|
|
NM_017791.3(FLVCR2):c.*1613C>T
|
rs1890460668
|
|
NM_017791.3(FLVCR2):c.*379T>C
|
rs886050789
|
|
NM_017791.3(FLVCR2):c.*513A>G
|
rs1890435742
|
|
NM_017791.3(FLVCR2):c.*517C>T
|
rs188459017
|
|
NM_017791.3(FLVCR2):c.*644G>A
|
rs1890438951
|
|
NM_017791.3(FLVCR2):c.*856T>C
|
rs1890443552
|
|
NM_017791.3(FLVCR2):c.*98T>C
|
rs886050788
|
|
NM_017791.3(FLVCR2):c.1326C>T (p.Leu442=)
|
rs886050787
|
|
NM_017791.3(FLVCR2):c.1580G>T (p.Ter527Leu)
|
rs1566799791
|
|
NM_017791.3(FLVCR2):c.1581A>C (p.Ter527Cys)
|
rs1566799795
|
|
NM_017791.3(FLVCR2):c.360C>G (p.Ala120=)
|
rs906645811
|
|
NM_017791.3(FLVCR2):c.543G>A (p.Val181=)
|
rs2287016
|
|
NM_017791.3(FLVCR2):c.669+8G>C
|
rs769337002
|
|
NM_017791.3(FLVCR2):c.998G>A (p.Arg333His)
|
rs757778790
|
|
NM_021830.5(TWNK):c.*248G>A
|
rs1851850715
|
|
NM_021830.5(TWNK):c.*346A>C
|
rs1851852761
|
|
NM_021830.5(TWNK):c.*555G>A
|
rs886046635
|
|
NM_021830.5(TWNK):c.*747C>G
|
rs886046638
|
|
NM_021830.5(TWNK):c.-304G>A
|
rs200599543
|
|
NM_021830.5(TWNK):c.-423C>T
|
rs886046627
|
|
NM_021830.5(TWNK):c.-584G>C
|
rs1564806518
|
|
NM_021830.5(TWNK):c.-585T>G
|
rs886046624
|
|
NM_021830.5(TWNK):c.-622C>T
|
rs993449080
|
|
NM_021830.5(TWNK):c.1001G>A (p.Arg334Gln)
|
rs28937887
|
|
NM_021830.5(TWNK):c.1070G>C (p.Arg357Pro)
|
rs758026634
|
|
NM_021830.5(TWNK):c.1199G>T (p.Arg400Leu)
|
rs781016340
|
|
NM_021830.5(TWNK):c.1287C>T (p.Ala429=)
|
rs80356541
|
|
NM_021830.5(TWNK):c.1314C>G (p.Asn438Lys)
|
rs1366090807
|
|
NM_021830.5(TWNK):c.1366C>G (p.Leu456Val)
|
rs386834145
|
|
NM_021830.5(TWNK):c.1422G>A (p.Trp474Ter)
|
rs111033574
|
|
NM_021830.5(TWNK):c.1441C>G (p.Leu481Val)
|
rs1590020571
|
|
NM_021830.5(TWNK):c.1628G>A (p.Arg543Gln)
|
rs753386843
|
|
NM_021830.5(TWNK):c.1729_1732del (p.Ala577fs)
|
|
|
NM_021830.5(TWNK):c.1826G>T (p.Arg609Leu)
|
rs1274226715
|
|
NM_021830.5(TWNK):c.1906G>A (p.Ala636Thr)
|
rs1426435572
|
|
NM_021830.5(TWNK):c.2005G>A (p.Gly669Ser)
|
rs1851842282
|
|
NM_021830.5(TWNK):c.2045G>A (p.Arg682His)
|
rs182559752
|
|
NM_021830.5(TWNK):c.247C>T (p.Pro83Ser)
|
rs386834147
|
|
NM_021830.5(TWNK):c.276C>T (p.Gly92=)
|
rs886046631
|
|
NM_021830.5(TWNK):c.333del (p.Leu112fs)
|
rs886037832
|
|
NM_021830.5(TWNK):c.49del (p.Leu17fs)
|
rs779142717
|
|
NM_021830.5(TWNK):c.596G>A (p.Arg199Gln)
|
rs1564807938
|
|
NM_021830.5(TWNK):c.77G>T (p.Gly26Val)
|
rs772221026
|
|
NM_021830.5(TWNK):c.793C>T (p.Arg265Cys)
|
rs764669712
|
|
NM_021954.4(GJA3):c.56C>T (p.Thr19Met)
|
rs1114167307
|
|
NM_022464.5(SIL1):c.*105C>T
|
|
|
NM_022464.5(SIL1):c.*265C>G
|
|
|
NM_022464.5(SIL1):c.*30C>T
|
|
|
NM_022464.5(SIL1):c.*349T>C
|
|
|
NM_022464.5(SIL1):c.*68del
|
|
|
NM_022464.5(SIL1):c.*80G>C
|
|
|
NM_022464.5(SIL1):c.-10-18951A>G
|
|
|
NM_022464.5(SIL1):c.-106G>C
|
|
|
NM_022464.5(SIL1):c.-11+21922C>T
|
|
|
NM_022464.5(SIL1):c.-1T>C
|
|
|
NM_022464.5(SIL1):c.-29C>G
|
|
|
NM_022464.5(SIL1):c.-92T>A
|
|
|
NM_022464.5(SIL1):c.-94G>C
|
|
|
NM_022464.5(SIL1):c.-98C>T
|
|
|
NM_022464.5(SIL1):c.1007T>C (p.Leu336Pro)
|
|
|
NM_022464.5(SIL1):c.1008C>G (p.Leu336=)
|
|
|
NM_022464.5(SIL1):c.1010A>G (p.Tyr337Cys)
|
|
|
NM_022464.5(SIL1):c.1011C>T (p.Tyr337=)
|
|
|
NM_022464.5(SIL1):c.1012G>A (p.Asp338Asn)
|
|
|
NM_022464.5(SIL1):c.1017G>C (p.Leu339=)
|
rs769587333
|
|
NM_022464.5(SIL1):c.1023G>A (p.Thr341=)
|
|
|
NM_022464.5(SIL1):c.1025_1027delAGA (p.Lys343del)
|
|
|
NM_022464.5(SIL1):c.1029+12_1029+17del
|
|
|
NM_022464.5(SIL1):c.1029+14C>T
|
|
|
NM_022464.5(SIL1):c.1029+15C>T
|
|
|
NM_022464.5(SIL1):c.1029+1G>A
|
|
|
NM_022464.5(SIL1):c.1029G>A (p.Lys343=)
|
|
|
NM_022464.5(SIL1):c.1030-10C>T
|
|
|
NM_022464.5(SIL1):c.1030-18G>A
|
|
|
NM_022464.5(SIL1):c.1030-6T>G
|
|
|
NM_022464.5(SIL1):c.1030-9G>T
|
|
|
NM_022464.5(SIL1):c.1031T>C (p.Met344Thr)
|
|
|
NM_022464.5(SIL1):c.1035del (p.Phe345fs)
|
|
|
NM_022464.5(SIL1):c.1036G>A (p.Ala346Thr)
|
rs377150029
|
|
NM_022464.5(SIL1):c.1036G>C (p.Ala346Pro)
|
|
|
NM_022464.5(SIL1):c.1038C>T (p.Ala346=)
|
|
|
NM_022464.5(SIL1):c.1038del (p.Glu347fs)
|
|
|
NM_022464.5(SIL1):c.105+20A>G
|
|
|
NM_022464.5(SIL1):c.1060C>T (p.Gln354Ter)
|
|
|
NM_022464.5(SIL1):c.1066A>G (p.Met356Val)
|
|
|
NM_022464.5(SIL1):c.1071C>T (p.Ser357=)
|
|
|
NM_022464.5(SIL1):c.1085A>T (p.Gln362Leu)
|
|
|
NM_022464.5(SIL1):c.1093C>T (p.Arg365Cys)
|
|
|
NM_022464.5(SIL1):c.1094G>A (p.Arg365His)
|
|
|
NM_022464.5(SIL1):c.1095C>T (p.Arg365=)
|
|
|
NM_022464.5(SIL1):c.1099G>A (p.Val367Ile)
|
|
|
NM_022464.5(SIL1):c.1117del (p.Leu373fs)
|
|
|
NM_022464.5(SIL1):c.1120T>C (p.Trp374Arg)
|
rs1021273983
|
|
NM_022464.5(SIL1):c.1122G>C (p.Trp374Cys)
|
|
|
NM_022464.5(SIL1):c.1138G>A (p.Glu380Lys)
|
|
|
NM_022464.5(SIL1):c.1145C>T (p.Thr382Met)
|
|
|
NM_022464.5(SIL1):c.1146G>A (p.Thr382=)
|
|
|
NM_022464.5(SIL1):c.1156C>T (p.Leu386=)
|
|
|
NM_022464.5(SIL1):c.115G>T (p.Ala39Ser)
|
|
|
NM_022464.5(SIL1):c.1160C>T (p.Ala387Val)
|
|
|
NM_022464.5(SIL1):c.1168G>A (p.Glu390Lys)
|
|
|
NM_022464.5(SIL1):c.1168G>C (p.Glu390Gln)
|
|
|
NM_022464.5(SIL1):c.1180C>T (p.Arg394Cys)
|
|
|
NM_022464.5(SIL1):c.1218C>A (p.Thr406=)
|
|
|
NM_022464.5(SIL1):c.1218C>T (p.Thr406=)
|
|
|
NM_022464.5(SIL1):c.1231C>G (p.Arg411Gly)
|
|
|
NM_022464.5(SIL1):c.1231C>T (p.Arg411Cys)
|
|
|
NM_022464.5(SIL1):c.1237C>T (p.Arg413Cys)
|
|
|
NM_022464.5(SIL1):c.1238G>A (p.Arg413His)
|
|
|
NM_022464.5(SIL1):c.1238G>T (p.Arg413Leu)
|
|
|
NM_022464.5(SIL1):c.1247C>A (p.Pro416His)
|
|
|
NM_022464.5(SIL1):c.1249C>T (p.Gln417Ter)
|
|
|
NM_022464.5(SIL1):c.1255G>A (p.Gly419Ser)
|
rs398124389
|
|
NM_022464.5(SIL1):c.125A>C (p.Asn42Thr)
|
|
|
NM_022464.5(SIL1):c.1261A>G (p.Thr421Ala)
|
|
|
NM_022464.5(SIL1):c.1263A>G (p.Thr421=)
|
rs1157233880
|
|
NM_022464.5(SIL1):c.1279G>T (p.Ala427Ser)
|
|
|
NM_022464.5(SIL1):c.1286A>T (p.Tyr429Phe)
|
|
|
NM_022464.5(SIL1):c.1312C>T (p.Gln438Ter)
|
rs119456966
|
|
NM_022464.5(SIL1):c.1316A>G (p.Asp439Gly)
|
|
|
NM_022464.5(SIL1):c.1317T>C (p.Asp439=)
|
|
|
NM_022464.5(SIL1):c.1321G>T (p.Glu441Ter)
|
|
|
NM_022464.5(SIL1):c.132G>A (p.Glu44=)
|
|
|
NM_022464.5(SIL1):c.1330G>T (p.Gly444Cys)
|
|
|
NM_022464.5(SIL1):c.1331G>T (p.Gly444Val)
|
|
|
NM_022464.5(SIL1):c.1342G>A (p.Glu448Lys)
|
|
|
NM_022464.5(SIL1):c.135G>A (p.Lys45=)
|
|
|
NM_022464.5(SIL1):c.1364G>A (p.Ser455Asn)
|
|
|
NM_022464.5(SIL1):c.1368G>A (p.Leu456=)
|
|
|
NM_022464.5(SIL1):c.1370T>C (p.Leu457Pro)
|
|
|
NM_022464.5(SIL1):c.1380G>C (p.Leu460=)
|
|
|
NM_022464.5(SIL1):c.152_153inv (p.Thr51Met)
|
|
|
NM_022464.5(SIL1):c.158_159del (p.Arg53fs)
|
|
|
NM_022464.5(SIL1):c.164A>G (p.Glu55Gly)
|
|
|
NM_022464.5(SIL1):c.166A>G (p.Thr56Ala)
|
|
|
NM_022464.5(SIL1):c.175G>A (p.Glu59Lys)
|
|
|
NM_022464.5(SIL1):c.181G>A (p.Glu61Lys)
|
|
|
NM_022464.5(SIL1):c.185T>A (p.Leu62Gln)
|
|
|
NM_022464.5(SIL1):c.191C>T (p.Ala64Val)
|
|
|
NM_022464.5(SIL1):c.193G>A (p.Glu65Lys)
|
|
|
NM_022464.5(SIL1):c.195_217del (p.Glu65fs)
|
|
|
NM_022464.5(SIL1):c.196G>A (p.Val66Ile)
|
|
|
NM_022464.5(SIL1):c.199C>T (p.Leu67=)
|
|
|
NM_022464.5(SIL1):c.1A>G (p.Met1Val)
|
rs573588795
|
|
NM_022464.5(SIL1):c.205G>A (p.Val69Met)
|
|
|
NM_022464.5(SIL1):c.211C>T (p.His71Tyr)
|
|
|
NM_022464.5(SIL1):c.212dup (p.His71fs)
|
|
|
NM_022464.5(SIL1):c.215C>T (p.Pro72Leu)
|
|
|
NM_022464.5(SIL1):c.216G>A (p.Pro72=)
|
|
|
NM_022464.5(SIL1):c.218C>T (p.Thr73Met)
|
|
|
NM_022464.5(SIL1):c.219G>A (p.Thr73=)
|
|
|
NM_022464.5(SIL1):c.232G>T (p.Ala78Ser)
|
|
|
NM_022464.5(SIL1):c.238C>A (p.Gln80Lys)
|
|
|
NM_022464.5(SIL1):c.244+11del
|
|
|
NM_022464.5(SIL1):c.244+17T>C
|
|
|
NM_022464.5(SIL1):c.244+8G>A
|
|
|
NM_022464.5(SIL1):c.245-15C>A
|
|
|
NM_022464.5(SIL1):c.255C>T (p.Val85=)
|
|
|
NM_022464.5(SIL1):c.261A>G (p.Ala87=)
|
|
|
NM_022464.5(SIL1):c.267C>A (p.Ser89=)
|
|
|
NM_022464.5(SIL1):c.271G>A (p.Val91Ile)
|
|
|
NM_022464.5(SIL1):c.275G>A (p.Arg92Gln)
|
|
|
NM_022464.5(SIL1):c.276G>A (p.Arg92=)
|
|
|
NM_022464.5(SIL1):c.31A>G (p.Met11Val)
|
|
|
NM_022464.5(SIL1):c.331C>T (p.Arg111Ter)
|
|
|
NM_022464.5(SIL1):c.348C>G (p.Gly116=)
|
|
|
NM_022464.5(SIL1):c.353+12A>G
|
|
|
NM_022464.5(SIL1):c.353+19G>A
|
|
|
NM_022464.5(SIL1):c.353+1G>T
|
|
|
NM_022464.5(SIL1):c.354-3C>A
|
|
|
NM_022464.5(SIL1):c.355C>T (p.Leu119=)
|
|
|
NM_022464.5(SIL1):c.388G>A (p.Asp130Asn)
|
|
|
NM_022464.5(SIL1):c.430A>G (p.Met144Val)
|
|
|
NM_022464.5(SIL1):c.432G>T (p.Met144Ile)
|
|
|
NM_022464.5(SIL1):c.435G>C (p.Glu145Asp)
|
|
|
NM_022464.5(SIL1):c.453+14T>C
|
|
|
NM_022464.5(SIL1):c.454-10C>G
|
|
|
NM_022464.5(SIL1):c.454-8C>T
|
|
|
NM_022464.5(SIL1):c.458G>C (p.Arg153Thr)
|
|
|
NM_022464.5(SIL1):c.46A>C (p.Met16Leu)
|
|
|
NM_022464.5(SIL1):c.471A>T (p.Val157=)
|
|
|
NM_022464.5(SIL1):c.475C>T (p.Arg159Trp)
|
|
|
NM_022464.5(SIL1):c.476G>A (p.Arg159Gln)
|
|
|
NM_022464.5(SIL1):c.477G>C (p.Arg159=)
|
|
|
NM_022464.5(SIL1):c.484C>T (p.Arg162Cys)
|
|
|
NM_022464.5(SIL1):c.487C>A (p.Pro163Thr)
|
|
|
NM_022464.5(SIL1):c.487C>T (p.Pro163Ser)
|
|
|
NM_022464.5(SIL1):c.506_509dup (p.Asp170fs)
|
|
|
NM_022464.5(SIL1):c.516T>C (p.Asp172=)
|
|
|
NM_022464.5(SIL1):c.526G>T (p.Val176Phe)
|
|
|
NM_022464.5(SIL1):c.550A>G (p.Ile184Val)
|
|
|
NM_022464.5(SIL1):c.554T>C (p.Met185Thr)
|
|
|
NM_022464.5(SIL1):c.559C>T (p.Arg187Trp)
|
|
|
NM_022464.5(SIL1):c.570C>G (p.Asn190Lys)
|
|
|
NM_022464.5(SIL1):c.585C>T (p.Ser195=)
|
|
|
NM_022464.5(SIL1):c.599A>C (p.Glu200Ala)
|
|
|
NM_022464.5(SIL1):c.59T>C (p.Leu20Pro)
|
|
|
NM_022464.5(SIL1):c.603_607del (p.Glu201fs)
|
|
|
NM_022464.5(SIL1):c.614C>T (p.Ala205Val)
|
|
|
NM_022464.5(SIL1):c.615G>A (p.Ala205=)
|
|
|
NM_022464.5(SIL1):c.618C>T (p.Leu206=)
|
|
|
NM_022464.5(SIL1):c.624T>A (p.Asp208Glu)
|
|
|
NM_022464.5(SIL1):c.635A>G (p.Tyr212Cys)
|
|
|
NM_022464.5(SIL1):c.63G>A (p.Leu21=)
|
|
|
NM_022464.5(SIL1):c.643_645+21del
|
|
|
NM_022464.5(SIL1):c.644A>G (p.Gln215Arg)
|
|
|
NM_022464.5(SIL1):c.645+15C>T
|
|
|
NM_022464.5(SIL1):c.645+16G>A
|
|
|
NM_022464.5(SIL1):c.645+16G>T
|
|
|
NM_022464.5(SIL1):c.645+1G>A
|
|
|
NM_022464.5(SIL1):c.645+2T>C
|
|
|
NM_022464.5(SIL1):c.653A>G (p.Asn218Ser)
|
|
|
NM_022464.5(SIL1):c.666G>T (p.Leu222=)
|
|
|
NM_022464.5(SIL1):c.670T>A (p.Ser224Thr)
|
|
|
NM_022464.5(SIL1):c.674T>C (p.Phe225Ser)
|
|
|
NM_022464.5(SIL1):c.685dup (p.Gln229fs)
|
|
|
NM_022464.5(SIL1):c.694A>G (p.Ile232Val)
|
|
|
NM_022464.5(SIL1):c.697A>G (p.Asn233Asp)
|
|
|
NM_022464.5(SIL1):c.698A>G (p.Asn233Ser)
|
|
|
NM_022464.5(SIL1):c.714A>G (p.Thr238=)
|
rs1581036406
|
|
NM_022464.5(SIL1):c.729G>A (p.Lys243=)
|
|
|
NM_022464.5(SIL1):c.72C>T (p.Ala24=)
|
|
|
NM_022464.5(SIL1):c.753C>T (p.Gly251=)
|
|
|
NM_022464.5(SIL1):c.754G>A (p.Ala252Thr)
|
|
|
NM_022464.5(SIL1):c.766A>G (p.Ser256Gly)
|
|
|
NM_022464.5(SIL1):c.767+18C>T
|
|
|
NM_022464.5(SIL1):c.767+19G>A
|
|
|
NM_022464.5(SIL1):c.767+1G>A
|
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NM_022464.5(SIL1):c.768-15G>T
|
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|
NM_022464.5(SIL1):c.773C>T (p.Pro258Leu)
|
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|
NM_022464.5(SIL1):c.810G>A (p.Leu270=)
|
rs1244661386
|
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NM_022464.5(SIL1):c.815A>G (p.Lys272Arg)
|
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|
NM_022464.5(SIL1):c.819G>A (p.Leu273=)
|
rs778802859
|
|
NM_022464.5(SIL1):c.829C>T (p.Leu277=)
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|
NM_022464.5(SIL1):c.82T>C (p.Phe28Leu)
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|
NM_022464.5(SIL1):c.836C>T (p.Thr279Met)
|
rs535287958
|
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NM_022464.5(SIL1):c.837G>A (p.Thr279=)
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|
NM_022464.5(SIL1):c.845C>T (p.Pro282Leu)
|
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NM_022464.5(SIL1):c.846G>A (p.Pro282=)
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NM_022464.5(SIL1):c.846G>C (p.Pro282=)
|
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NM_022464.5(SIL1):c.864+11A>C
|
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NM_022464.5(SIL1):c.864+14C>A
|
|
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NM_022464.5(SIL1):c.864+20C>G
|
|
|
NM_022464.5(SIL1):c.865-14G>T
|
|
|
NM_022464.5(SIL1):c.88del (p.Leu30fs)
|
|
|
NM_022464.5(SIL1):c.907G>A (p.Ala303Thr)
|
|
|
NM_022464.5(SIL1):c.913C>T (p.Arg305Trp)
|
|
|
NM_022464.5(SIL1):c.914G>A (p.Arg305Gln)
|
|
|
NM_022464.5(SIL1):c.91A>G (p.Ser31Gly)
|
|
|
NM_022464.5(SIL1):c.921C>T (p.Phe307=)
|
|
|
NM_022464.5(SIL1):c.931G>A (p.Gly311Arg)
|
|
|
NM_022464.5(SIL1):c.936del (p.Leu313fs)
|
|
|
NM_022464.5(SIL1):c.936dup (p.Leu313fs)
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NM_022464.5(SIL1):c.938T>C (p.Leu313Pro)
|
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|
NM_022464.5(SIL1):c.945C>A (p.Val315=)
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NM_022464.5(SIL1):c.947dup (p.Arg317fs)
|
|
|
NM_022464.5(SIL1):c.975G>A (p.Thr325=)
|
rs1187845475
|
|
NM_022464.5(SIL1):c.985G>A (p.Ala329Thr)
|
|
|
NM_022464.5(SIL1):c.986C>G (p.Ala329Gly)
|
|
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NM_022464.5(SIL1):c.988G>A (p.Val330Met)
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|
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NM_022464.5(SIL1):c.9C>G (p.Pro3=)
|
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NM_022464.5:c.454-6721_768-23561del
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NR_002717.2(ATXN8OS):n.1103CTG[(107_127)]
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NR_002717.2(ATXN8OS):n.1103CTG[15_40]
|
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