NM_001034850.3(RETREG1):c.671-124T>C
|
rs33692
|
0.71524
|
NM_001034850.3(RETREG1):c.816C>T (p.Asp272=)
|
rs162848
|
0.71313
|
NM_001034850.3(RETREG1):c.1000+20G>T
|
rs162850
|
0.71290
|
NM_001034850.3(RETREG1):c.459-25317A>G
|
rs33684
|
0.61806
|
NM_001034850.3(RETREG1):c.459-25602T>C
|
rs41117
|
0.58536
|
NM_001034850.3(RETREG1):c.459-25093T>C
|
rs332811
|
0.57203
|
NM_001034850.3(RETREG1):c.459-25755C>T
|
rs33685
|
0.43998
|
NM_001034850.3(RETREG1):c.873+23T>C
|
rs162849
|
0.42260
|
NM_001034850.3(RETREG1):c.428-310G>A
|
rs2560828
|
0.37178
|
NM_001034850.3(RETREG1):c.*1012G>A
|
rs26016
|
0.37107
|
NM_001034850.3(RETREG1):c.*206A>C
|
rs32147
|
0.29733
|
NM_001034850.3(RETREG1):c.671-55T>C
|
rs6883888
|
0.26680
|
NM_001034850.3(RETREG1):c.670+56G>A
|
rs2305279
|
0.18805
|
NM_001034850.3(RETREG1):c.603T>C (p.Cys201=)
|
rs16868675
|
0.08069
|
NM_001034850.3(RETREG1):c.321-220G>A
|
rs150073644
|
0.04505
|
NM_001034850.3(RETREG1):c.428-82C>T
|
rs75566471
|
0.03380
|
NM_001034850.3(RETREG1):c.428-29G>C
|
rs80062811
|
0.03378
|
NM_001034850.3(RETREG1):c.1145G>C (p.Ser382Thr)
|
rs61733811
|
0.03341
|
NM_001034850.3(RETREG1):c.*592G>A
|
rs2401881
|
0.03326
|
NM_001034850.3(RETREG1):c.1000+198A>G
|
rs77537077
|
0.03320
|
NM_001034850.3(RETREG1):c.873+60C>T
|
rs80022438
|
0.03319
|
NM_001034850.3(RETREG1):c.1000+248G>A
|
rs79827316
|
0.03311
|
NM_001034850.3(RETREG1):c.1001-210T>C
|
rs16868659
|
0.02688
|
NM_001034850.3(RETREG1):c.1001-17T>C
|
rs16868657
|
0.02685
|
NC_000005.10:g.16617377A>G
|
rs78152664
|
0.02086
|
NC_000005.10:g.16617337A>C
|
rs6873675
|
0.01733
|
NM_001034850.3(RETREG1):c.321-234C>T
|
rs145339287
|
0.01702
|
NM_001034850.3(RETREG1):c.1000+210T>A
|
rs162851
|
0.01408
|
NM_001034850.3(RETREG1):c.1000+264A>G
|
rs140883487
|
0.01228
|
NM_001034850.3(RETREG1):c.1135C>G (p.Gln379Glu)
|
rs34432513
|
0.01144
|
NM_001034850.3(RETREG1):c.428-271C>T
|
rs74367201
|
0.01077
|
NM_001034850.3(RETREG1):c.459-24839T>G
|
rs72744178
|
0.01012
|
NM_001034850.3(RETREG1):c.438G>A (p.Leu146=)
|
rs61741225
|
0.00939
|
NM_001034850.3(RETREG1):c.808+158T>C
|
rs73753059
|
0.00914
|
NM_001034850.3(RETREG1):c.1000+100A>G
|
rs115487310
|
0.00750
|
NM_001034850.3(RETREG1):c.671-16C>G
|
rs141215735
|
0.00736
|
NM_001034850.3(RETREG1):c.459-25005G>C
|
rs140488868
|
0.00702
|
NM_001034850.3(RETREG1):c.458+158G>A
|
rs116382119
|
0.00659
|
NM_001034850.3(RETREG1):c.586-195T>A
|
rs181915494
|
0.00654
|
NM_001034850.3(RETREG1):c.809-236C>G
|
rs187694702
|
0.00649
|
NM_001034850.3(RETREG1):c.586-150T>G
|
rs148364715
|
0.00646
|
NM_001034850.3(RETREG1):c.379C>T (p.Arg127Cys)
|
rs78314670
|
0.00642
|
NM_001034850.3(RETREG1):c.428-166A>C
|
rs112322160
|
0.00537
|
NM_001034850.3(RETREG1):c.459-25563G>A
|
rs541463075
|
0.00501
|
NM_001034850.3(RETREG1):c.459-24825G>A
|
rs375436273
|
0.00427
|
NM_001034850.3(RETREG1):c.427+230T>G
|
rs57769014
|
0.00347
|
NM_001034850.3(RETREG1):c.607G>A (p.Val203Met)
|
rs143878016
|
0.00296
|
NM_001034850.3(RETREG1):c.380G>A (p.Arg127His)
|
rs200871433
|
0.00036
|
NM_001034850.3(RETREG1):c.1236G>C (p.Leu412=)
|
rs150705378
|
0.00034
|
NM_001034850.3(RETREG1):c.458+19G>A
|
rs200033691
|
0.00029
|
NM_001034850.3(RETREG1):c.852C>T (p.Asp284=)
|
rs547400718
|
0.00025
|
NM_001034850.3(RETREG1):c.808+11T>G
|
rs184749223
|
0.00021
|
NM_001034850.3(RETREG1):c.1477C>T (p.Leu493=)
|
rs759739482
|
0.00014
|
NM_001034850.3(RETREG1):c.1169C>T (p.Thr390Met)
|
rs374082497
|
0.00011
|
NM_001034850.3(RETREG1):c.1408T>C (p.Leu470=)
|
rs762560875
|
0.00011
|
NM_001034850.3(RETREG1):c.1228A>T (p.Ser410Cys)
|
rs368977135
|
0.00010
|
NM_001034850.3(RETREG1):c.339A>G (p.Pro113=)
|
rs372182225
|
0.00006
|
NM_001034850.3(RETREG1):c.466G>T (p.Val156Phe)
|
rs758377163
|
0.00006
|
NM_001034850.3(RETREG1):c.687G>T (p.Leu229Phe)
|
rs748217475
|
0.00006
|
NM_001034850.3(RETREG1):c.796C>T (p.Arg266Cys)
|
rs368759467
|
0.00006
|
NM_001034850.3(RETREG1):c.1073G>T (p.Gly358Val)
|
rs772681100
|
0.00004
|
NM_001034850.3(RETREG1):c.1154G>C (p.Arg385Thr)
|
rs750674196
|
0.00004
|
NM_001034850.3(RETREG1):c.1490A>G (p.His497Arg)
|
rs746011053
|
0.00004
|
NM_001034850.3(RETREG1):c.264C>T (p.Ser88=)
|
rs750040156
|
0.00004
|
NM_001034850.3(RETREG1):c.459-6C>G
|
rs746783651
|
0.00004
|
NM_001034850.3(RETREG1):c.808+6T>C
|
rs368052487
|
0.00004
|
NM_001034850.3(RETREG1):c.885G>A (p.Thr295=)
|
rs563370925
|
0.00004
|
NM_001034850.3(RETREG1):c.1030T>C (p.Ser344Pro)
|
rs762028359
|
0.00003
|
NM_001034850.3(RETREG1):c.1068C>T (p.Gly356=)
|
rs190084506
|
0.00003
|
NM_001034850.3(RETREG1):c.1443G>C (p.Gln481His)
|
rs768588742
|
0.00003
|
NM_001034850.3(RETREG1):c.291C>T (p.Leu97=)
|
rs764004004
|
0.00003
|
NM_001034850.3(RETREG1):c.428-6T>C
|
rs921794120
|
0.00003
|
NM_001034850.3(RETREG1):c.670+12A>G
|
rs1447745891
|
0.00003
|
NM_001034850.3(RETREG1):c.750G>T (p.Leu250=)
|
rs767329180
|
0.00003
|
NM_001034850.3(RETREG1):c.841A>G (p.Ser281Gly)
|
rs1430719865
|
0.00003
|
NM_001034850.3(RETREG1):c.915C>T (p.Asp305=)
|
rs1296185207
|
0.00003
|
NM_001034850.3(RETREG1):c.1182T>C (p.Ala394=)
|
rs886043753
|
0.00002
|
NM_001034850.3(RETREG1):c.1249A>T (p.Ile417Phe)
|
rs780084870
|
0.00002
|
NM_001034850.3(RETREG1):c.1418C>G (p.Thr473Arg)
|
rs1186811814
|
0.00002
|
NM_001034850.3(RETREG1):c.232T>C (p.Trp78Arg)
|
rs746283428
|
0.00002
|
NM_001034850.3(RETREG1):c.321G>T (p.Trp107Cys)
|
rs200065908
|
0.00002
|
NM_001034850.3(RETREG1):c.364G>A (p.Val122Ile)
|
rs749712805
|
0.00002
|
NM_001034850.3(RETREG1):c.443G>C (p.Arg148Thr)
|
rs752534676
|
0.00002
|
NM_001034850.3(RETREG1):c.458+18C>T
|
rs766600823
|
0.00002
|
NM_001034850.3(RETREG1):c.623C>T (p.Thr208Met)
|
rs369276135
|
0.00002
|
NM_001034850.3(RETREG1):c.797G>A (p.Arg266His)
|
rs374340868
|
0.00002
|
NM_001034850.3(RETREG1):c.874-4A>G
|
rs375031588
|
0.00002
|
NM_001034850.3(RETREG1):c.947A>G (p.Asn316Ser)
|
rs371924017
|
0.00002
|
NM_001034850.3(RETREG1):c.1001-5C>A
|
rs1359952267
|
0.00001
|
NM_001034850.3(RETREG1):c.1001-5C>T
|
rs1359952267
|
0.00001
|
NM_001034850.3(RETREG1):c.1009C>T (p.Arg337Ter)
|
rs750575538
|
0.00001
|
NM_001034850.3(RETREG1):c.1010G>A (p.Arg337Gln)
|
rs1738485048
|
0.00001
|
NM_001034850.3(RETREG1):c.1013C>T (p.Pro338Leu)
|
rs886060395
|
0.00001
|
NM_001034850.3(RETREG1):c.1026T>C (p.Val342=)
|
rs765642043
|
0.00001
|
NM_001034850.3(RETREG1):c.1046A>G (p.Asp349Gly)
|
rs1468614294
|
0.00001
|
NM_001034850.3(RETREG1):c.1051C>T (p.Pro351Ser)
|
rs77967042
|
0.00001
|
NM_001034850.3(RETREG1):c.1077A>G (p.Thr359=)
|
rs1281713280
|
0.00001
|
NM_001034850.3(RETREG1):c.1137G>C (p.Gln379His)
|
rs1282248296
|
0.00001
|
NM_001034850.3(RETREG1):c.1153A>C (p.Arg385=)
|
rs139874020
|
0.00001
|
NM_001034850.3(RETREG1):c.1207G>A (p.Asp403Asn)
|
rs753136289
|
0.00001
|
NM_001034850.3(RETREG1):c.1218T>C (p.Phe406=)
|
rs372629414
|
0.00001
|
NM_001034850.3(RETREG1):c.1255G>C (p.Ala419Pro)
|
rs1738461818
|
0.00001
|
NM_001034850.3(RETREG1):c.1321C>T (p.Pro441Ser)
|
rs909827415
|
0.00001
|
NM_001034850.3(RETREG1):c.1400A>G (p.Glu467Gly)
|
rs1738455329
|
0.00001
|
NM_001034850.3(RETREG1):c.1434A>G (p.Ala478=)
|
rs1474211875
|
0.00001
|
NM_001034850.3(RETREG1):c.230T>C (p.Leu77Pro)
|
rs1042864064
|
0.00001
|
NM_001034850.3(RETREG1):c.249C>T (p.Ala83=)
|
rs778368106
|
0.00001
|
NM_001034850.3(RETREG1):c.263G>A (p.Ser88Asn)
|
rs766100737
|
0.00001
|
NM_001034850.3(RETREG1):c.280C>G (p.Arg94Gly)
|
rs761526666
|
0.00001
|
NM_001034850.3(RETREG1):c.285C>G (p.Ser95Arg)
|
rs1554026716
|
0.00001
|
NM_001034850.3(RETREG1):c.308A>G (p.Asn103Ser)
|
rs760809113
|
0.00001
|
NM_001034850.3(RETREG1):c.340T>A (p.Trp114Arg)
|
rs367935796
|
0.00001
|
NM_001034850.3(RETREG1):c.346G>A (p.Val116Ile)
|
rs1430621502
|
0.00001
|
NM_001034850.3(RETREG1):c.394A>G (p.Ile132Val)
|
rs200174704
|
0.00001
|
NM_001034850.3(RETREG1):c.428-7G>A
|
rs777349476
|
0.00001
|
NM_001034850.3(RETREG1):c.501C>T (p.Leu167=)
|
rs1738892805
|
0.00001
|
NM_001034850.3(RETREG1):c.509G>C (p.Cys170Ser)
|
rs779070741
|
0.00001
|
NM_001034850.3(RETREG1):c.555G>A (p.Met185Ile)
|
rs780286920
|
0.00001
|
NM_001034850.3(RETREG1):c.559C>G (p.Leu187Val)
|
rs774683360
|
0.00001
|
NM_001034850.3(RETREG1):c.595C>G (p.Leu199Val)
|
rs1041379300
|
0.00001
|
NM_001034850.3(RETREG1):c.606T>C (p.Ser202=)
|
rs763886231
|
0.00001
|
NM_001034850.3(RETREG1):c.624G>A (p.Thr208=)
|
rs759194355
|
0.00001
|
NM_001034850.3(RETREG1):c.668T>C (p.Leu223Pro)
|
rs1379332584
|
0.00001
|
NM_001034850.3(RETREG1):c.691C>G (p.Pro231Ala)
|
rs1389950630
|
0.00001
|
NM_001034850.3(RETREG1):c.711T>C (p.Asp237=)
|
rs200070690
|
0.00001
|
NM_001034850.3(RETREG1):c.728del (p.Tyr243fs)
|
rs1435783250
|
0.00001
|
NM_001034850.3(RETREG1):c.743C>T (p.Ser248Leu)
|
rs1172646761
|
0.00001
|
NM_001034850.3(RETREG1):c.745G>A (p.Val249Ile)
|
rs372401503
|
0.00001
|
NM_001034850.3(RETREG1):c.747T>G (p.Val249=)
|
rs752223454
|
0.00001
|
NM_001034850.3(RETREG1):c.775G>C (p.Glu259Gln)
|
rs751185980
|
0.00001
|
NM_001034850.3(RETREG1):c.809-8C>T
|
rs953507650
|
0.00001
|
NM_001034850.3(RETREG1):c.809A>C (p.Glu270Ala)
|
rs1064796582
|
0.00001
|
NM_001034850.3(RETREG1):c.821A>G (p.Glu274Gly)
|
rs1190939710
|
0.00001
|
NM_001034850.3(RETREG1):c.873+11T>C
|
rs182364763
|
0.00001
|
NM_001034850.3(RETREG1):c.881T>C (p.Leu294Pro)
|
rs1231481315
|
0.00001
|
NM_001034850.3(RETREG1):c.900G>A (p.Glu300=)
|
rs368710242
|
0.00001
|
NM_001034850.3(RETREG1):c.921C>T (p.Asp307=)
|
rs375292522
|
0.00001
|
NM_001034850.3(RETREG1):c.923T>A (p.Val308Asp)
|
rs745526194
|
0.00001
|
NM_001034850.3(RETREG1):c.977C>G (p.Thr326Ser)
|
rs1209980699
|
0.00001
|
NM_001034850.3(RETREG1):c.991A>C (p.Thr331Pro)
|
rs1330411518
|
0.00001
|
GRCh37/hg19 5p15.1(chr5:16546131-16625287)x1
|
|
|
NC_000005.9:g.(?_16474830)_(16481222_?)dup
|
|
|
NC_000005.9:g.(?_16474840)_(16475353_?)del
|
|
|
NC_000005.9:g.(?_16474840)_(16483591_?)del
|
|
|
NC_000005.9:g.(?_16483445)_(16483591_?)del
|
|
|
NM_001034850.3(RETREG1):c.*1035T>C
|
rs527314474
|
|
NM_001034850.3(RETREG1):c.*70_*71dup
|
rs200951949
|
|
NM_001034850.3(RETREG1):c.*71del
|
rs200951949
|
|
NM_001034850.3(RETREG1):c.*71dup
|
rs200951949
|
|
NM_001034850.3(RETREG1):c.1000+15C>T
|
|
|
NM_001034850.3(RETREG1):c.1000+16T>G
|
rs1435084555
|
|
NM_001034850.3(RETREG1):c.1000+20G>C
|
|
|
NM_001034850.3(RETREG1):c.1000+4T>C
|
rs2126510443
|
|
NM_001034850.3(RETREG1):c.1000+5G>C
|
rs2126510439
|
|
NM_001034850.3(RETREG1):c.1008C>T (p.Asp336=)
|
rs751914179
|
|
NM_001034850.3(RETREG1):c.1072G>A (p.Gly358Arg)
|
rs2126506040
|
|
NM_001034850.3(RETREG1):c.1089T>C (p.Asp363=)
|
rs200156015
|
|
NM_001034850.3(RETREG1):c.1089T>G (p.Asp363Glu)
|
rs200156015
|
|
NM_001034850.3(RETREG1):c.1091A>T (p.Glu364Val)
|
rs2126505973
|
|
NM_001034850.3(RETREG1):c.1110C>T (p.Pro370=)
|
rs373322680
|
|
NM_001034850.3(RETREG1):c.1138T>C (p.Leu380=)
|
|
|
NM_001034850.3(RETREG1):c.1143C>T (p.Asp381=)
|
rs1738478450
|
|
NM_001034850.3(RETREG1):c.1156C>A (p.Pro386Thr)
|
|
|
NM_001034850.3(RETREG1):c.1156C>T (p.Pro386Ser)
|
rs1427260133
|
|
NM_001034850.3(RETREG1):c.1166A>G (p.Glu389Gly)
|
rs757708271
|
|
NM_001034850.3(RETREG1):c.1170G>A (p.Thr390=)
|
|
|
NM_001034850.3(RETREG1):c.1170G>T (p.Thr390=)
|
rs369353830
|
|
NM_001034850.3(RETREG1):c.1171C>T (p.Gln391Ter)
|
rs1738475876
|
|
NM_001034850.3(RETREG1):c.1173A>G (p.Gln391=)
|
rs2126505679
|
|
NM_001034850.3(RETREG1):c.1187T>C (p.Leu396Pro)
|
rs1738470249
|
|
NM_001034850.3(RETREG1):c.1211A>C (p.Gln404Pro)
|
rs2126505577
|
|
NM_001034850.3(RETREG1):c.1214C>A (p.Thr405Asn)
|
|
|
NM_001034850.3(RETREG1):c.1215C>T (p.Thr405=)
|
|
|
NM_001034850.3(RETREG1):c.1219C>T (p.His407Tyr)
|
rs1554014624
|
|
NM_001034850.3(RETREG1):c.1226T>G (p.Met409Arg)
|
rs1057518317
|
|
NM_001034850.3(RETREG1):c.1229G>A (p.Ser410Asn)
|
|
|
NM_001034850.3(RETREG1):c.1262T>C (p.Val421Ala)
|
rs1579575180
|
|
NM_001034850.3(RETREG1):c.1290G>T (p.Glu430Asp)
|
rs1486612761
|
|
NM_001034850.3(RETREG1):c.1303G>A (p.Ala435Thr)
|
rs2126505295
|
|
NM_001034850.3(RETREG1):c.1311_1312dup (p.Gln438fs)
|
rs2126505273
|
|
NM_001034850.3(RETREG1):c.1320C>T (p.Ala440=)
|
|
|
NM_001034850.3(RETREG1):c.1340C>T (p.Thr447Ile)
|
rs2126505193
|
|
NM_001034850.3(RETREG1):c.1346C>G (p.Thr449Ser)
|
rs1339247126
|
|
NM_001034850.3(RETREG1):c.1351G>A (p.Glu451Lys)
|
rs1738457802
|
|
NM_001034850.3(RETREG1):c.1359T>C (p.Asp453=)
|
rs1413373830
|
|
NM_001034850.3(RETREG1):c.1368_1373delinsCC (p.Glu456fs)
|
rs1738456492
|
|
NM_001034850.3(RETREG1):c.1371A>G (p.Leu457=)
|
|
|
NM_001034850.3(RETREG1):c.1378C>G (p.Gln460Glu)
|
rs1554014585
|
|
NM_001034850.3(RETREG1):c.1392T>C (p.Asp464=)
|
|
|
NM_001034850.3(RETREG1):c.1404T>C (p.Ser468=)
|
rs1188421518
|
|
NM_001034850.3(RETREG1):c.1415T>C (p.Leu472Pro)
|
rs1554014580
|
|
NM_001034850.3(RETREG1):c.1418C>T (p.Thr473Ile)
|
rs1186811814
|
|
NM_001034850.3(RETREG1):c.1426C>G (p.Gln476Glu)
|
rs761585250
|
|
NM_001034850.3(RETREG1):c.1433C>T (p.Ala478Val)
|
rs1738452474
|
|
NM_001034850.3(RETREG1):c.1448A>G (p.Asn483Ser)
|
rs1738452001
|
|
NM_001034850.3(RETREG1):c.1450AAG[1] (p.Lys485del)
|
rs758081460
|
|
NM_001034850.3(RETREG1):c.1467C>T (p.Phe489=)
|
|
|
NM_001034850.3(RETREG1):c.224C>G (p.Pro75Arg)
|
rs780380167
|
|
NM_001034850.3(RETREG1):c.225G>A (p.Pro75=)
|
|
|
NM_001034850.3(RETREG1):c.228G>A (p.Val76=)
|
|
|
NM_001034850.3(RETREG1):c.234G>A (p.Trp78Ter)
|
rs2126387706
|
|
NM_001034850.3(RETREG1):c.237G>A (p.Leu79=)
|
rs1743523732
|
|
NM_001034850.3(RETREG1):c.246C>A (p.Arg82=)
|
rs1464263119
|
|
NM_001034850.3(RETREG1):c.249C>G (p.Ala83=)
|
rs778368106
|
|
NM_001034850.3(RETREG1):c.250G>A (p.Asp84Asn)
|
|
|
NM_001034850.3(RETREG1):c.262A>C (p.Ser88Arg)
|
rs2126387580
|
|
NM_001034850.3(RETREG1):c.276G>A (p.Pro92=)
|
rs561114434
|
|
NM_001034850.3(RETREG1):c.276G>T (p.Pro92=)
|
rs561114434
|
|
NM_001034850.3(RETREG1):c.279G>A (p.Leu93=)
|
|
|
NM_001034850.3(RETREG1):c.286C>T (p.Leu96=)
|
rs776560421
|
|
NM_001034850.3(RETREG1):c.289C>G (p.Leu97Val)
|
|
|
NM_001034850.3(RETREG1):c.300C>T (p.Val100=)
|
|
|
NM_001034850.3(RETREG1):c.320+13G>T
|
|
|
NM_001034850.3(RETREG1):c.320+16A>T
|
|
|
NM_001034850.3(RETREG1):c.320+18G>T
|
|
|
NM_001034850.3(RETREG1):c.320+2T>G
|
rs2126387372
|
|
NM_001034850.3(RETREG1):c.321-112del
|
rs11338270
|
|
NM_001034850.3(RETREG1):c.321-11C>T
|
|
|
NM_001034850.3(RETREG1):c.321-128dup
|
rs11338270
|
|
NM_001034850.3(RETREG1):c.321-1G>A
|
|
|
NM_001034850.3(RETREG1):c.321G>A (p.Trp107Ter)
|
rs200065908
|
|
NM_001034850.3(RETREG1):c.321G>C (p.Trp107Cys)
|
|
|
NM_001034850.3(RETREG1):c.330A>G (p.Ala110=)
|
|
|
NM_001034850.3(RETREG1):c.338C>A (p.Pro113Gln)
|
rs2126633544
|
|
NM_001034850.3(RETREG1):c.340T>C (p.Trp114Arg)
|
|
|
NM_001034850.3(RETREG1):c.345A>G (p.Arg115=)
|
rs1742187553
|
|
NM_001034850.3(RETREG1):c.348A>G (p.Val116=)
|
|
|
NM_001034850.3(RETREG1):c.355C>G (p.Leu119Val)
|
|
|
NM_001034850.3(RETREG1):c.363C>G (p.Ser121=)
|
|
|
NM_001034850.3(RETREG1):c.363C>T (p.Ser121=)
|
|
|
NM_001034850.3(RETREG1):c.366C>T (p.Val122=)
|
|
|
NM_001034850.3(RETREG1):c.373C>A (p.Leu125Ile)
|
rs547425698
|
|
NM_001034850.3(RETREG1):c.377G>A (p.Gly126Glu)
|
|
|
NM_001034850.3(RETREG1):c.379C>G (p.Arg127Gly)
|
rs78314670
|
|
NM_001034850.3(RETREG1):c.403G>A (p.Asp135Asn)
|
rs1742183967
|
|
NM_001034850.3(RETREG1):c.403G>C (p.Asp135His)
|
|
|
NM_001034850.3(RETREG1):c.413T>A (p.Leu138Ter)
|
rs2126633452
|
|
NM_001034850.3(RETREG1):c.427+10C>T
|
|
|
NM_001034850.3(RETREG1):c.427+17T>G
|
|
|
NM_001034850.3(RETREG1):c.428-177C>T
|
rs75553033
|
|
NM_001034850.3(RETREG1):c.428-19T>C
|
|
|
NM_001034850.3(RETREG1):c.428G>A (p.Gly143Asp)
|
rs1579689193
|
|
NM_001034850.3(RETREG1):c.433C>T (p.Gln145Ter)
|
rs137852737
|
|
NM_001034850.3(RETREG1):c.440G>A (p.Trp147Ter)
|
|
|
NM_001034850.3(RETREG1):c.441G>T (p.Trp147Cys)
|
rs2126628907
|
|
NM_001034850.3(RETREG1):c.457A>G (p.Ser153Gly)
|
rs1554022467
|
|
NM_001034850.3(RETREG1):c.458+9C>T
|
rs2126628875
|
|
NM_001034850.3(RETREG1):c.459-17dup
|
rs754407335
|
|
NM_001034850.3(RETREG1):c.459-25249del
|
rs11358957
|
|
NM_001034850.3(RETREG1):c.459-25582_459-25581dup
|
rs11403979
|
|
NM_001034850.3(RETREG1):c.459-25582dup
|
rs11403979
|
|
NM_001034850.3(RETREG1):c.459-4T>G
|
|
|
NM_001034850.3(RETREG1):c.463G>A (p.Glu155Lys)
|
rs201026378
|
|
NM_001034850.3(RETREG1):c.486T>G (p.Asp162Glu)
|
|
|
NM_001034850.3(RETREG1):c.494C>T (p.Pro165Leu)
|
rs1413492220
|
|
NM_001034850.3(RETREG1):c.502A>G (p.Ser168Gly)
|
rs2126520985
|
|
NM_001034850.3(RETREG1):c.505C>T (p.His169Tyr)
|
|
|
NM_001034850.3(RETREG1):c.538A>G (p.Ile180Val)
|
|
|
NM_001034850.3(RETREG1):c.549del (p.Glu184fs)
|
|
|
NM_001034850.3(RETREG1):c.558T>C (p.Ser186=)
|
|
|
NM_001034850.3(RETREG1):c.570G>A (p.Gln190=)
|
|
|
NM_001034850.3(RETREG1):c.571C>T (p.Gln191Ter)
|
rs941182270
|
|
NM_001034850.3(RETREG1):c.586-4C>A
|
|
|
NM_001034850.3(RETREG1):c.586-8A>C
|
|
|
NM_001034850.3(RETREG1):c.586-8A>G
|
|
|
NM_001034850.3(RETREG1):c.614C>T (p.Thr205Ile)
|
rs1579584383
|
|
NM_001034850.3(RETREG1):c.615A>G (p.Thr205=)
|
rs1579584372
|
|
NM_001034850.3(RETREG1):c.616T>A (p.Phe206Ile)
|
rs2126516891
|
|
NM_001034850.3(RETREG1):c.621_622insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGACCTCATGATCCACCCGCCTCGGCCTCCCTACGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGTGTGTGCACATTTTTT (p.Thr208delinsPhePhePhePhePhePheXaaXaaXaaXaaLeuThrSerTer)
|
|
|
NM_001034850.3(RETREG1):c.631G>A (p.Gly211Arg)
|
|
|
NM_001034850.3(RETREG1):c.638A>G (p.Tyr213Cys)
|
rs2126516838
|
|
NM_001034850.3(RETREG1):c.649G>C (p.Val217Leu)
|
|
|
NM_001034850.3(RETREG1):c.654A>T (p.Ile218=)
|
|
|
NM_001034850.3(RETREG1):c.670+20T>C
|
|
|
NM_001034850.3(RETREG1):c.671-20T>C
|
|
|
NM_001034850.3(RETREG1):c.672A>C (p.Leu224Phe)
|
|
|
NM_001034850.3(RETREG1):c.684_686dup (p.Phe228dup)
|
rs750191157
|
|
NM_001034850.3(RETREG1):c.691C>T (p.Pro231Ser)
|
rs1389950630
|
|
NM_001034850.3(RETREG1):c.703T>A (p.Cys235Ser)
|
rs747446867
|
|
NM_001034850.3(RETREG1):c.709_711del (p.Asp237del)
|
rs765165944
|
|
NM_001034850.3(RETREG1):c.725T>C (p.Ile242Thr)
|
rs1579580998
|
|
NM_001034850.3(RETREG1):c.727T>C (p.Tyr243His)
|
rs1738651185
|
|
NM_001034850.3(RETREG1):c.734A>G (p.Lys245Arg)
|
rs1211346227
|
|
NM_001034850.3(RETREG1):c.738T>G (p.Ile246Met)
|
rs1738650337
|
|
NM_001034850.3(RETREG1):c.741G>T (p.Lys247Asn)
|
|
|
NM_001034850.3(RETREG1):c.767G>A (p.Gly256Glu)
|
|
|
NM_001034850.3(RETREG1):c.786T>C (p.Asn262=)
|
rs1579580876
|
|
NM_001034850.3(RETREG1):c.787C>T (p.Gln263Ter)
|
rs1738646700
|
|
NM_001034850.3(RETREG1):c.792G>A (p.Lys264=)
|
|
|
NM_001034850.3(RETREG1):c.797G>C (p.Arg266Pro)
|
rs374340868
|
|
NM_001034850.3(RETREG1):c.803G>C (p.Arg268Thr)
|
rs370636928
|
|
NM_001034850.3(RETREG1):c.804A>T (p.Arg268Ser)
|
rs761925091
|
|
NM_001034850.3(RETREG1):c.805T>A (p.Ser269Thr)
|
|
|
NM_001034850.3(RETREG1):c.806C>G (p.Ser269Cys)
|
|
|
NM_001034850.3(RETREG1):c.808+10G>A
|
|
|
NM_001034850.3(RETREG1):c.808+13T>G
|
|
|
NM_001034850.3(RETREG1):c.808+16A>G
|
|
|
NM_001034850.3(RETREG1):c.808+4G>C
|
|
|
NM_001034850.3(RETREG1):c.809-13T>G
|
|
|
NM_001034850.3(RETREG1):c.820_823del (p.Glu274fs)
|
|
|
NM_001034850.3(RETREG1):c.832A>G (p.Lys278Glu)
|
rs1268915345
|
|
NM_001034850.3(RETREG1):c.840C>T (p.Asp280=)
|
rs2126511607
|
|
NM_001034850.3(RETREG1):c.841_852del (p.Ser281_Asp284del)
|
rs760741213
|
|
NM_001034850.3(RETREG1):c.850G>T (p.Asp284Tyr)
|
rs760751442
|
|
NM_001034850.3(RETREG1):c.859G>A (p.Ala287Thr)
|
rs2126511545
|
|
NM_001034850.3(RETREG1):c.863T>C (p.Leu288Pro)
|
|
|
NM_001034850.3(RETREG1):c.871A>G (p.Lys291Glu)
|
rs1410294018
|
|
NM_001034850.3(RETREG1):c.873+10G>C
|
|
|
NM_001034850.3(RETREG1):c.873+2T>C
|
rs137852738
|
|
NM_001034850.3(RETREG1):c.873+9del
|
|
|
NM_001034850.3(RETREG1):c.874-11T>C
|
|
|
NM_001034850.3(RETREG1):c.874-15T>C
|
|
|
NM_001034850.3(RETREG1):c.874-27C>T
|
rs73042393
|
|
NM_001034850.3(RETREG1):c.874-3C>T
|
|
|
NM_001034850.3(RETREG1):c.879C>G (p.Ser293Arg)
|
rs1738603998
|
|
NM_001034850.3(RETREG1):c.882C>T (p.Leu294=)
|
rs2126510926
|
|
NM_001034850.3(RETREG1):c.905C>T (p.Ser302Phe)
|
|
|
NM_001034850.3(RETREG1):c.907G>A (p.Val303Met)
|
|
|
NM_001034850.3(RETREG1):c.922G>A (p.Val308Ile)
|
|
|
NM_001034850.3(RETREG1):c.924C>G (p.Val308=)
|
|
|
NM_001034850.3(RETREG1):c.926C>G (p.Ser309Ter)
|
rs137852739
|
|
NM_001034850.3(RETREG1):c.945T>C (p.Asp315=)
|
rs1406101820
|
|
NM_001034850.3(RETREG1):c.953C>T (p.Thr318Ile)
|
rs368457852
|
|
NM_001034850.3(RETREG1):c.959A>C (p.Asn320Thr)
|
rs755049105
|
|
NM_001034850.3(RETREG1):c.964T>C (p.Ser322Pro)
|
rs1554014877
|
|
NM_001034850.3(RETREG1):c.968A>T (p.Glu323Val)
|
|
|
NM_001034850.3(RETREG1):c.973T>G (p.Tyr325Asp)
|
rs1738596466
|
|
NM_001034850.3(RETREG1):c.975C>T (p.Tyr325=)
|
|
|
NM_001034850.3(RETREG1):c.983A>T (p.Gln328Leu)
|
|
|
NM_001034850.3(RETREG1):c.992C>T (p.Thr331Ile)
|
rs762417636
|
|