NM_080911.3(UNG):c.759C>G (p.Leu253=)
|
rs76391872
|
0.02053
|
NM_080911.3(UNG):c.*1013T>A
|
rs3219275
|
0.01781
|
NM_080911.3(UNG):c.291C>T (p.Ser97=)
|
rs3219210
|
0.00624
|
NM_080911.3(UNG):c.*708T>C
|
rs150677845
|
0.00374
|
NM_080911.3(UNG):c.*463C>T
|
rs55947010
|
0.00178
|
NM_080911.3(UNG):c.533+6G>A
|
rs55812333
|
0.00163
|
NM_080911.3(UNG):c.246G>C (p.Leu82=)
|
rs144083363
|
0.00140
|
NM_080911.3(UNG):c.*699T>C
|
rs762462658
|
0.00119
|
NM_080911.3(UNG):c.*109A>G
|
rs533948770
|
0.00098
|
NM_080911.3(UNG):c.262C>T (p.Arg88Cys)
|
rs151095402
|
0.00090
|
NM_080911.3(UNG):c.392C>T (p.Pro131Leu)
|
rs140829672
|
0.00072
|
NM_080911.3(UNG):c.*880A>T
|
rs567806750
|
0.00052
|
NM_080911.3(UNG):c.194C>T (p.Pro65Leu)
|
rs199956941
|
0.00051
|
NM_080911.3(UNG):c.146A>G (p.Lys49Arg)
|
rs143103316
|
0.00046
|
NM_080911.3(UNG):c.183G>A (p.Pro61=)
|
rs147490205
|
0.00038
|
NM_080911.3(UNG):c.622+10C>T
|
rs201555956
|
0.00026
|
NM_080911.3(UNG):c.514C>G (p.Pro172Ala)
|
rs143527092
|
0.00018
|
NM_080911.3(UNG):c.805C>T (p.Arg269Trp)
|
rs143034537
|
0.00018
|
NM_080911.3(UNG):c.522G>A (p.Pro174=)
|
rs148037258
|
0.00017
|
NM_080911.3(UNG):c.528G>A (p.Pro176=)
|
rs373915335
|
0.00014
|
NM_080911.3(UNG):c.593A>G (p.His198Arg)
|
rs201388456
|
0.00013
|
NM_080911.3(UNG):c.32T>C (p.Phe11Ser)
|
rs747684225
|
0.00011
|
NM_080911.3(UNG):c.*313C>G
|
rs886048909
|
0.00010
|
NM_080911.3(UNG):c.906G>A (p.Lys302=)
|
rs561414480
|
0.00010
|
NM_080911.3(UNG):c.265A>G (p.Asn89Asp)
|
rs201031933
|
0.00009
|
NM_080911.3(UNG):c.*522A>G
|
rs189054927
|
0.00008
|
NM_080911.3(UNG):c.339+15G>A
|
rs368013839
|
0.00008
|
NM_080911.3(UNG):c.*445C>T
|
rs769388131
|
0.00007
|
NM_080911.3(UNG):c.340-20C>T
|
rs202212890
|
0.00007
|
NM_080911.3(UNG):c.622+9G>T
|
rs774306202
|
0.00007
|
NM_080911.3(UNG):c.*573G>C
|
rs1028482157
|
0.00006
|
NM_080911.3(UNG):c.*611C>T
|
rs886048911
|
0.00006
|
NM_080911.3(UNG):c.173C>T (p.Pro58Leu)
|
rs371482568
|
0.00006
|
NM_080911.3(UNG):c.721T>C (p.Trp241Arg)
|
rs150180082
|
0.00006
|
NM_080911.3(UNG):c.399A>C (p.Gln133His)
|
rs576044400
|
0.00005
|
NM_080911.3(UNG):c.651G>A (p.Thr217=)
|
rs141783420
|
0.00005
|
NM_080911.3(UNG):c.260C>T (p.Ala87Val)
|
rs767034552
|
0.00004
|
NM_080911.3(UNG):c.339+11A>C
|
rs373929934
|
0.00004
|
NM_080911.3(UNG):c.415C>A (p.Gln139Lys)
|
rs766218046
|
0.00004
|
NM_080911.3(UNG):c.452T>C (p.Leu151Pro)
|
rs746462706
|
0.00004
|
NM_080911.3(UNG):c.548A>G (p.Tyr183Cys)
|
rs745764048
|
0.00004
|
NM_080911.3(UNG):c.738G>A (p.Ser246=)
|
rs187858476
|
0.00004
|
NM_080911.3(UNG):c.81C>A (p.Ala27=)
|
rs761928219
|
0.00004
|
NM_080911.3(UNG):c.*111A>T
|
rs770692724
|
0.00003
|
NM_080911.3(UNG):c.188C>T (p.Ser63Phe)
|
rs140065688
|
0.00003
|
NM_080911.3(UNG):c.36C>A (p.Ser12=)
|
rs772832695
|
0.00003
|
NM_080911.3(UNG):c.771T>C (p.Tyr257=)
|
rs1054086515
|
0.00003
|
NM_080911.3(UNG):c.802-20T>G
|
rs1055056117
|
0.00003
|
NM_080911.3(UNG):c.851A>G (p.Tyr284Cys)
|
rs149153434
|
0.00003
|
NM_080911.3(UNG):c.186C>T (p.Pro62=)
|
rs765545880
|
0.00002
|
NM_080911.3(UNG):c.191C>G (p.Ser64Trp)
|
rs757987852
|
0.00002
|
NM_080911.3(UNG):c.285A>G (p.Gly95=)
|
rs776852485
|
0.00002
|
NM_080911.3(UNG):c.366A>C (p.Arg122Ser)
|
rs200273184
|
0.00002
|
NM_080911.3(UNG):c.486T>C (p.Ala162=)
|
rs146685524
|
0.00002
|
NM_080911.3(UNG):c.533+15C>G
|
rs752331296
|
0.00002
|
NM_080911.3(UNG):c.685C>T (p.Arg229Ter)
|
rs772214871
|
0.00002
|
NM_080911.3(UNG):c.769T>C (p.Tyr257His)
|
rs769188214
|
0.00002
|
NM_080911.3(UNG):c.801+14T>C
|
rs770635458
|
0.00002
|
NM_080911.3(UNG):c.802-8T>A
|
rs771426933
|
0.00002
|
NM_080911.3(UNG):c.*2C>A
|
rs767818599
|
0.00001
|
NM_080911.3(UNG):c.*655A>C
|
rs775022596
|
0.00001
|
NM_080911.3(UNG):c.-73C>T
|
rs886048904
|
0.00001
|
NM_080911.3(UNG):c.133-7C>T
|
rs373087239
|
0.00001
|
NM_080911.3(UNG):c.153C>G (p.Ala51=)
|
rs1382771989
|
0.00001
|
NM_080911.3(UNG):c.231C>G (p.Asn77Lys)
|
rs762261195
|
0.00001
|
NM_080911.3(UNG):c.267C>T (p.Asn89=)
|
rs757301291
|
0.00001
|
NM_080911.3(UNG):c.268G>C (p.Val90Leu)
|
rs749104168
|
0.00001
|
NM_080911.3(UNG):c.339+17A>C
|
rs778193117
|
0.00001
|
NM_080911.3(UNG):c.34T>A (p.Ser12Thr)
|
rs769496984
|
0.00001
|
NM_080911.3(UNG):c.371A>G (p.His124Arg)
|
rs1035623046
|
0.00001
|
NM_080911.3(UNG):c.487C>G (p.His163Asp)
|
rs1188727621
|
0.00001
|
NM_080911.3(UNG):c.513G>A (p.Arg171=)
|
rs140301639
|
0.00001
|
NM_080911.3(UNG):c.523C>G (p.Pro175Ala)
|
rs1201337667
|
0.00001
|
NM_080911.3(UNG):c.533+18G>A
|
rs748871049
|
0.00001
|
NM_080911.3(UNG):c.534-14T>C
|
rs1010413399
|
0.00001
|
NM_080911.3(UNG):c.583C>A (p.His195Asn)
|
rs1441489549
|
0.00001
|
NM_080911.3(UNG):c.61G>A (p.Ala21Thr)
|
rs1435043915
|
0.00001
|
NM_080911.3(UNG):c.620A>G (p.Gln207Arg)
|
rs1196324378
|
0.00001
|
NM_080911.3(UNG):c.623-13C>G
|
rs771114424
|
0.00001
|
NM_080911.3(UNG):c.623-9T>A
|
rs745983593
|
0.00001
|
NM_080911.3(UNG):c.633T>C (p.Leu211=)
|
rs200572869
|
0.00001
|
NM_080911.3(UNG):c.638A>G (p.Asn213Ser)
|
rs776921243
|
0.00001
|
NM_080911.3(UNG):c.639C>T (p.Asn213=)
|
rs761526932
|
0.00001
|
NM_080911.3(UNG):c.65C>T (p.Pro22Leu)
|
rs373668102
|
0.00001
|
NM_080911.3(UNG):c.681G>A (p.Lys227=)
|
rs746124875
|
0.00001
|
NM_080911.3(UNG):c.6C>A (p.Ile2=)
|
rs886048905
|
0.00001
|
NM_080911.3(UNG):c.801+5G>A
|
rs762578814
|
0.00001
|
NM_080911.3(UNG):c.812A>G (p.His271Arg)
|
rs147460908
|
0.00001
|
NM_080911.3(UNG):c.824C>T (p.Thr275Met)
|
rs761656626
|
0.00001
|
NM_080911.3(UNG):c.839C>T (p.Pro280Leu)
|
rs202127223
|
0.00001
|
NM_080911.3(UNG):c.843G>T (p.Leu281Phe)
|
rs576935575
|
0.00001
|
NM_080911.3(UNG):c.86A>C (p.Gln29Pro)
|
rs765512122
|
0.00001
|
NC_000012.11:g.(?_109547614)_(109547774_?)del
|
|
|
NC_000012.11:g.(?_109547614)_(109547794_?)dup
|
|
|
NC_000012.12:g.(?_109109809)_(109109989_?)del
|
|
|
NM_080911.3(UNG):c.*1018A>G
|
rs538993598
|
|
NM_080911.3(UNG):c.*129C>T
|
rs2042250000
|
|
NM_080911.3(UNG):c.*159G>A
|
rs886048907
|
|
NM_080911.3(UNG):c.*281C>T
|
rs886048908
|
|
NM_080911.3(UNG):c.*376C>G
|
rs2042251751
|
|
NM_080911.3(UNG):c.*500C>G
|
rs780337127
|
|
NM_080911.3(UNG):c.*537G>A
|
rs886048910
|
|
NM_080911.3(UNG):c.*545A>G
|
rs562354759
|
|
NM_080911.3(UNG):c.*705T>C
|
rs990568930
|
|
NM_080911.3(UNG):c.*719G>A
|
rs886048912
|
|
NM_080911.3(UNG):c.*788dup
|
rs200602841
|
|
NM_080911.3(UNG):c.*858T>G
|
rs914567653
|
|
NM_080911.3(UNG):c.*866AT[5]
|
rs56185014
|
|
NM_080911.3(UNG):c.*866AT[9]
|
rs56185014
|
|
NM_080911.3(UNG):c.-50G>A
|
rs370117219
|
|
NM_080911.3(UNG):c.-51A>G
|
rs375712849
|
|
NM_080911.3(UNG):c.-51A>T
|
rs375712849
|
|
NM_080911.3(UNG):c.133-13_133-10dup
|
|
|
NM_080911.3(UNG):c.133-19C>T
|
|
|
NM_080911.3(UNG):c.133-2A>G
|
|
|
NM_080911.3(UNG):c.133-8A>C
|
|
|
NM_080911.3(UNG):c.134C>T (p.Ala45Val)
|
|
|
NM_080911.3(UNG):c.135C>T (p.Ala45=)
|
|
|
NM_080911.3(UNG):c.138C>A (p.Ile46=)
|
|
|
NM_080911.3(UNG):c.141A>G (p.Pro47=)
|
|
|
NM_080911.3(UNG):c.14A>G (p.Lys5Arg)
|
rs2135880926
|
|
NM_080911.3(UNG):c.155C>G (p.Pro52Arg)
|
rs771026474
|
|
NM_080911.3(UNG):c.162del (p.Gln55fs)
|
|
|
NM_080911.3(UNG):c.168G>A (p.Glu56=)
|
|
|
NM_080911.3(UNG):c.178_182delinsCAGGAGGA (p.Thr60_Pro61delinsGlnGluGlu)
|
rs2042150747
|
|
NM_080911.3(UNG):c.189C>G (p.Ser63=)
|
|
|
NM_080911.3(UNG):c.200G>A (p.Ser67Asn)
|
rs755887246
|
|
NM_080911.3(UNG):c.204C>G (p.Ala68=)
|
rs777436497
|
|
NM_080911.3(UNG):c.204C>T (p.Ala68=)
|
rs777436497
|
|
NM_080911.3(UNG):c.232A>G (p.Lys78Glu)
|
rs1158616684
|
|
NM_080911.3(UNG):c.237C>T (p.Ala79=)
|
|
|
NM_080911.3(UNG):c.250dup (p.Arg84fs)
|
|
|
NM_080911.3(UNG):c.263G>C (p.Arg88Pro)
|
|
|
NM_080911.3(UNG):c.271C>G (p.Pro91Ala)
|
rs2135882421
|
|
NM_080911.3(UNG):c.273C>G (p.Pro91=)
|
rs758619136
|
|
NM_080911.3(UNG):c.273C>T (p.Pro91=)
|
|
|
NM_080911.3(UNG):c.288G>C (p.Glu96Asp)
|
|
|
NM_080911.3(UNG):c.294del (p.Ser97_Trp98insTer)
|
rs2135882474
|
|
NM_080911.3(UNG):c.303C>T (p.His101=)
|
|
|
NM_080911.3(UNG):c.312G>C (p.Gly104=)
|
|
|
NM_080911.3(UNG):c.318C>A (p.Phe106Leu)
|
rs2042152878
|
|
NM_080911.3(UNG):c.324A>G (p.Lys108=)
|
|
|
NM_080911.3(UNG):c.339+13A>G
|
|
|
NM_080911.3(UNG):c.339+18C>T
|
|
|
NM_080911.3(UNG):c.340-3C>T
|
rs2042158091
|
|
NM_080911.3(UNG):c.366_369del (p.Arg122fs)
|
rs757311287
|
|
NM_080911.3(UNG):c.36C>T (p.Ser12=)
|
rs772832695
|
|
NM_080911.3(UNG):c.388C>A (p.Pro130Thr)
|
|
|
NM_080911.3(UNG):c.392del (p.Pro131fs)
|
|
|
NM_080911.3(UNG):c.399A>G (p.Gln133=)
|
rs576044400
|
|
NM_080911.3(UNG):c.39del (p.Ser14fs)
|
|
|
NM_080911.3(UNG):c.408C>T (p.Thr136=)
|
rs762887143
|
|
NM_080911.3(UNG):c.428_429del (p.Ile143fs)
|
|
|
NM_080911.3(UNG):c.435+11C>T
|
|
|
NM_080911.3(UNG):c.435+15T>A
|
rs765672149
|
|
NM_080911.3(UNG):c.435+15T>C
|
rs765672149
|
|
NM_080911.3(UNG):c.435+9A>G
|
|
|
NM_080911.3(UNG):c.436-19G>A
|
rs1395385244
|
|
NM_080911.3(UNG):c.437T>G (p.Val146Gly)
|
|
|
NM_080911.3(UNG):c.471T>C (p.His157=)
|
rs780271583
|
|
NM_080911.3(UNG):c.47_73del (p.Ala16_Pro24del)
|
rs1426059529
|
|
NM_080911.3(UNG):c.487C>T (p.His163Tyr)
|
|
|
NM_080911.3(UNG):c.489C>A (p.His163Gln)
|
|
|
NM_080911.3(UNG):c.489C>G (p.His163Gln)
|
rs376918741
|
|
NM_080911.3(UNG):c.489C>T (p.His163=)
|
|
|
NM_080911.3(UNG):c.490G>A (p.Gly164Arg)
|
rs745760429
|
|
NM_080911.3(UNG):c.495C>T (p.Leu165=)
|
|
|
NM_080911.3(UNG):c.508C>G (p.Gln170Glu)
|
rs2042181539
|
|
NM_080911.3(UNG):c.519T>C (p.Val173=)
|
|
|
NM_080911.3(UNG):c.521C>T (p.Pro174Leu)
|
|
|
NM_080911.3(UNG):c.524C>T (p.Pro175Leu)
|
rs2135885863
|
|
NM_080911.3(UNG):c.527C>T (p.Pro176Leu)
|
|
|
NM_080911.3(UNG):c.533+17G>T
|
rs755840023
|
|
NM_080911.3(UNG):c.541A>G (p.Asn181Asp)
|
rs2135886688
|
|
NM_080911.3(UNG):c.544A>G (p.Ile182Val)
|
rs545691651
|
|
NM_080911.3(UNG):c.569_570del (p.Ile190fs)
|
rs772764942
|
|
NM_080911.3(UNG):c.572_573del (p.Glu191fs)
|
|
|
NM_080911.3(UNG):c.579T>G (p.Phe193Leu)
|
|
|
NM_080911.3(UNG):c.580G>A (p.Val194Ile)
|
|
|
NM_080911.3(UNG):c.586C>T (p.Pro196Ser)
|
rs2135886797
|
|
NM_080911.3(UNG):c.60C>T (p.His20=)
|
|
|
NM_080911.3(UNG):c.622+11G>A
|
|
|
NM_080911.3(UNG):c.622+16C>T
|
rs2042189211
|
|
NM_080911.3(UNG):c.622+19G>C
|
|
|
NM_080911.3(UNG):c.622+20A>T
|
|
|
NM_080911.3(UNG):c.622+6C>G
|
|
|
NM_080911.3(UNG):c.623-10_623-9del
|
|
|
NM_080911.3(UNG):c.623-11C>G
|
|
|
NM_080911.3(UNG):c.623-15C>A
|
|
|
NM_080911.3(UNG):c.623-2A>G
|
rs2042193330
|
|
NM_080911.3(UNG):c.623-9T>C
|
|
|
NM_080911.3(UNG):c.62C>T (p.Ala21Val)
|
rs1268732277
|
|
NM_080911.3(UNG):c.631C>A (p.Leu211Ile)
|
rs2042193445
|
|
NM_080911.3(UNG):c.631C>T (p.Leu211Phe)
|
|
|
NM_080911.3(UNG):c.634C>G (p.Leu212Val)
|
|
|
NM_080911.3(UNG):c.640G>A (p.Ala214Thr)
|
|
|
NM_080911.3(UNG):c.649dup (p.Thr217fs)
|
rs1302020618
|
|
NM_080911.3(UNG):c.653T>G (p.Val218Gly)
|
rs1357632504
|
|
NM_080911.3(UNG):c.654T>C (p.Val218=)
|
|
|
NM_080911.3(UNG):c.660C>T (p.Ala220=)
|
rs572632781
|
|
NM_080911.3(UNG):c.664C>G (p.Gln222Glu)
|
rs2042193896
|
|
NM_080911.3(UNG):c.674C>T (p.Ser225Phe)
|
|
|
NM_080911.3(UNG):c.686G>A (p.Arg229Gln)
|
rs146408261
|
|
NM_080911.3(UNG):c.696G>A (p.Glu232=)
|
rs2135887528
|
|
NM_080911.3(UNG):c.710C>G (p.Ala237Gly)
|
rs201146665
|
|
NM_080911.3(UNG):c.730C>T (p.Gln244Ter)
|
rs751126274
|
|
NM_080911.3(UNG):c.732G>A (p.Gln244=)
|
rs193922715
|
|
NM_080911.3(UNG):c.737C>T (p.Ser246Leu)
|
|
|
NM_080911.3(UNG):c.738G>T (p.Ser246=)
|
rs187858476
|
|
NM_080911.3(UNG):c.744C>G (p.Gly248=)
|
rs1593322263
|
|
NM_080911.3(UNG):c.752T>C (p.Phe251Ser)
|
rs104894380
|
|
NM_080911.3(UNG):c.76C>T (p.Pro26Ser)
|
rs1321029062
|
|
NM_080911.3(UNG):c.778AAG[1] (p.Lys261del)
|
rs754010984
|
|
NM_080911.3(UNG):c.77C>A (p.Pro26Gln)
|
|
|
NM_080911.3(UNG):c.783G>A (p.Lys261=)
|
|
|
NM_080911.3(UNG):c.796G>C (p.Asp266His)
|
rs2135887679
|
|
NM_080911.3(UNG):c.801+16T>C
|
|
|
NM_080911.3(UNG):c.801+18T>C
|
|
|
NM_080911.3(UNG):c.801+19_801+22del
|
|
|
NM_080911.3(UNG):c.801+24_801+27del
|
rs144108564
|
|
NM_080911.3(UNG):c.801+27dup
|
rs144108564
|
|
NM_080911.3(UNG):c.802-12G>C
|
|
|
NM_080911.3(UNG):c.802-15C>A
|
|
|
NM_080911.3(UNG):c.802-6T>C
|
rs1593326349
|
|
NM_080911.3(UNG):c.802-9C>T
|
|
|
NM_080911.3(UNG):c.819A>G (p.Leu273=)
|
rs1593326380
|
|
NM_080911.3(UNG):c.824C>G (p.Thr275Arg)
|
|
|
NM_080911.3(UNG):c.825G>A (p.Thr275=)
|
rs765151419
|
|
NM_080911.3(UNG):c.868T>G (p.Cys290Gly)
|
rs749817306
|
|
NM_080911.3(UNG):c.891dup (p.Glu298Ter)
|
rs2042248475
|
|
NM_080911.3(UNG):c.895C>T (p.Leu299=)
|
|
|
NM_080911.3(UNG):c.90G>A (p.Gly30=)
|
|
|
NM_080911.3(UNG):c.90G>T (p.Gly30=)
|
rs766467977
|
|
NM_080911.3(UNG):c.911G>A (p.Gly304Asp)
|
rs1555265484
|
|
NM_080911.3(UNG):c.924T>A (p.Ile308=)
|
|
|
NM_080911.3(UNG):c.925G>A (p.Asp309Asn)
|
|
|
NM_080911.3(UNG):c.934G>A (p.Glu312Lys)
|
rs2135896214
|
|