NM_018699.4(PRDM5):c.1538-287T>G
|
rs843559
|
0.99155
|
NM_018699.4(PRDM5):c.1188+309G>A
|
rs1567552
|
0.86927
|
NM_018699.4(PRDM5):c.177+110G>A
|
rs1901135
|
0.61482
|
NM_018699.4(PRDM5):c.1031-180A>G
|
rs3789140
|
0.39138
|
NM_018699.4(PRDM5):c.865+320C>T
|
rs2292395
|
0.38192
|
NM_018699.4(PRDM5):c.744-38C>T
|
rs2136998
|
0.38181
|
NM_018699.4(PRDM5):c.681A>G (p.Leu227=)
|
rs343192
|
0.28756
|
NM_018699.4(PRDM5):c.651-103G>A
|
rs237212
|
0.28749
|
NM_018699.4(PRDM5):c.300+58A>G
|
rs3115310
|
0.27262
|
NM_018699.4(PRDM5):c.945+274G>C
|
rs3789142
|
0.25262
|
NM_018699.4(PRDM5):c.946-60G>C
|
rs4833677
|
0.25248
|
NM_018699.4(PRDM5):c.476-150A>C
|
rs343190
|
0.25243
|
NM_018699.4(PRDM5):c.946-41G>C
|
rs4833676
|
0.25240
|
NM_018699.4(PRDM5):c.1537+144C>T
|
rs3804163
|
0.21083
|
NM_018699.4(PRDM5):c.1443+287C>G
|
rs4833674
|
0.20953
|
NM_018699.4(PRDM5):c.1283-239A>G
|
rs55901892
|
0.20950
|
NM_018699.4(PRDM5):c.1283-176A>G
|
rs56402218
|
0.20944
|
NM_018699.4(PRDM5):c.1188+115T>A
|
rs12507359
|
0.20003
|
NM_018699.4(PRDM5):c.1030+232A>G
|
rs2203060
|
0.19998
|
NM_018699.4(PRDM5):c.1234T>C (p.Leu412=)
|
rs12499000
|
0.19996
|
NM_018699.4(PRDM5):c.1443+28A>G
|
rs3761721
|
0.19943
|
NM_018699.4(PRDM5):c.1031-202A>C
|
rs17415097
|
0.09329
|
NM_018699.4(PRDM5):c.1624-339T>C
|
rs114750513
|
0.06807
|
NM_018699.4(PRDM5):c.1624-330C>T
|
rs114245360
|
0.06668
|
NM_018699.4(PRDM5):c.651-225T>C
|
rs17051265
|
0.05715
|
NM_018699.4(PRDM5):c.301-270C>T
|
rs168226
|
0.05230
|
NM_018699.4(PRDM5):c.93+60A>G
|
rs113037077
|
0.04980
|
NM_018699.4(PRDM5):c.1444-186T>C
|
rs1511302
|
0.04976
|
NM_018699.4(PRDM5):c.475+179T>C
|
rs343185
|
0.04971
|
NM_018699.4(PRDM5):c.1030+35C>A
|
rs1511310
|
0.04584
|
NM_018699.4(PRDM5):c.849G>A (p.Gln283=)
|
rs17051264
|
0.03566
|
NM_018699.4(PRDM5):c.660G>A (p.Gln220=)
|
rs74320998
|
0.02419
|
NM_018699.4(PRDM5):c.1066T>A (p.Ser356Thr)
|
rs140634372
|
0.01952
|
NM_018699.4(PRDM5):c.1728+286G>A
|
rs79397936
|
0.01791
|
NM_018699.4(PRDM5):c.945+260T>A
|
rs139976957
|
0.01788
|
NM_018699.4(PRDM5):c.177+208C>T
|
rs138020106
|
0.01669
|
NM_018699.4(PRDM5):c.1283-123A>G
|
rs114852145
|
0.01663
|
NM_018699.4(PRDM5):c.177+185C>T
|
rs142701541
|
0.01362
|
NM_018699.4(PRDM5):c.*120T>C
|
rs77157999
|
0.01181
|
NM_018699.4(PRDM5):c.1282+135C>T
|
rs114415063
|
0.01143
|
NM_018699.4(PRDM5):c.491A>T (p.Lys164Ile)
|
rs146268537
|
0.01143
|
NM_018699.4(PRDM5):c.1624-200C>T
|
rs138821238
|
0.01018
|
NM_018699.4(PRDM5):c.1383T>C (p.Tyr461=)
|
rs55774575
|
0.00946
|
NM_018699.4(PRDM5):c.744-110A>G
|
rs73843619
|
0.00939
|
NM_018699.4(PRDM5):c.946-157G>A
|
rs55847539
|
0.00939
|
NM_018699.4(PRDM5):c.963T>C (p.Asp321=)
|
rs34666716
|
0.00939
|
NM_018699.4(PRDM5):c.1273A>G (p.Ile425Val)
|
rs75893420
|
0.00830
|
NM_018699.4(PRDM5):c.866-181A>G
|
rs188427518
|
0.00830
|
NM_018699.4(PRDM5):c.945+218G>A
|
rs72921565
|
0.00478
|
NM_018699.4(PRDM5):c.946-101A>G
|
rs72921557
|
0.00476
|
NM_018699.4(PRDM5):c.476-162T>C
|
rs149691499
|
0.00397
|
NM_018699.4(PRDM5):c.1443+234A>C
|
rs143076911
|
0.00364
|
NM_018699.4(PRDM5):c.1444-292A>G
|
rs76835364
|
0.00342
|
NM_018699.4(PRDM5):c.1283-294G>A
|
rs150447566
|
0.00335
|
NC_000004.12:g.120923147A>G
|
rs189084602
|
0.00315
|
NM_018699.4(PRDM5):c.1632G>A (p.Pro544=)
|
rs116026637
|
0.00299
|
NM_018699.4(PRDM5):c.476-175_476-172del
|
rs572645905
|
0.00259
|
NM_018699.4(PRDM5):c.651-97C>T
|
rs143516568
|
0.00240
|
NM_018699.4(PRDM5):c.1283-5C>T
|
rs185134294
|
0.00213
|
NM_018699.4(PRDM5):c.342A>C (p.Glu114Asp)
|
rs146228268
|
0.00070
|
NM_018699.4(PRDM5):c.924A>G (p.Ser308=)
|
rs146673397
|
0.00049
|
NM_018699.4(PRDM5):c.743+14G>A
|
rs185567213
|
0.00038
|
NM_018699.4(PRDM5):c.1189-14T>C
|
rs375296023
|
0.00036
|
NM_018699.4(PRDM5):c.1633T>C (p.Tyr545His)
|
rs142515463
|
0.00030
|
NM_018699.4(PRDM5):c.1031-15T>C
|
rs201474353
|
0.00028
|
NM_018699.4(PRDM5):c.236C>G (p.Ser79Cys)
|
rs201325904
|
0.00022
|
NM_018699.4(PRDM5):c.1113C>A (p.Ser371Arg)
|
rs148079992
|
0.00016
|
NM_018699.4(PRDM5):c.1339T>A (p.Leu447Ile)
|
rs193201534
|
0.00016
|
NM_018699.4(PRDM5):c.1114G>A (p.Glu372Lys)
|
rs369580755
|
0.00014
|
NM_018699.4(PRDM5):c.726C>T (p.Ser242=)
|
rs372141288
|
0.00013
|
NM_018699.4(PRDM5):c.1605C>T (p.His535=)
|
rs150476884
|
0.00012
|
NM_018699.4(PRDM5):c.248G>A (p.Arg83His)
|
rs201945549
|
0.00012
|
NM_018699.4(PRDM5):c.508C>T (p.Pro170Ser)
|
rs746068577
|
0.00012
|
NM_018699.4(PRDM5):c.1282+9C>T
|
rs79915407
|
0.00011
|
NM_018699.4(PRDM5):c.544C>T (p.Leu182Phe)
|
rs199602365
|
0.00011
|
NM_018699.4(PRDM5):c.1031-6T>A
|
rs753768741
|
0.00010
|
NM_018699.4(PRDM5):c.1722G>A (p.Gln574=)
|
rs147796327
|
0.00009
|
NM_018699.4(PRDM5):c.252C>T (p.Phe84=)
|
rs576918913
|
0.00009
|
NM_018699.4(PRDM5):c.1282+20G>T
|
rs746914932
|
0.00008
|
NM_018699.4(PRDM5):c.300+17C>T
|
rs376707809
|
0.00008
|
NM_018699.4(PRDM5):c.6G>T (p.Leu2=)
|
rs745891819
|
0.00008
|
NM_018699.4(PRDM5):c.*4G>A
|
rs746723307
|
0.00007
|
NM_018699.4(PRDM5):c.740C>T (p.Ser247Leu)
|
rs187637689
|
0.00006
|
NM_018699.4(PRDM5):c.743+18T>G
|
rs779673963
|
0.00006
|
NM_018699.4(PRDM5):c.106G>A (p.Gly36Arg)
|
rs374583073
|
0.00005
|
NM_018699.4(PRDM5):c.1623+8T>C
|
rs201965676
|
0.00005
|
NM_018699.4(PRDM5):c.154A>G (p.Met52Val)
|
rs766857802
|
0.00004
|
NM_018699.4(PRDM5):c.839A>G (p.Lys280Arg)
|
rs183142477
|
0.00004
|
NM_018699.4(PRDM5):c.865+10C>T
|
rs773648126
|
0.00004
|
NM_018699.4(PRDM5):c.1741G>A (p.Ala581Thr)
|
rs759782529
|
0.00003
|
NM_018699.4(PRDM5):c.182G>A (p.Arg61His)
|
rs777432357
|
0.00003
|
NM_018699.4(PRDM5):c.464C>T (p.Ala155Val)
|
rs755078221
|
0.00003
|
NM_018699.4(PRDM5):c.650+5G>A
|
rs754469516
|
0.00003
|
NM_018699.4(PRDM5):c.1282+17G>C
|
rs199821555
|
0.00002
|
NM_018699.4(PRDM5):c.1296C>G (p.Phe432Leu)
|
rs1266761912
|
0.00002
|
NM_018699.4(PRDM5):c.1613C>T (p.Thr538Ile)
|
rs140622920
|
0.00002
|
NM_018699.4(PRDM5):c.1652G>A (p.Ser551Asn)
|
rs752221668
|
0.00002
|
NM_018699.4(PRDM5):c.247C>T (p.Arg83Cys)
|
rs761027478
|
0.00002
|
NM_018699.4(PRDM5):c.360G>T (p.Leu120=)
|
rs751789550
|
0.00002
|
NM_018699.4(PRDM5):c.666A>G (p.Thr222=)
|
rs748098382
|
0.00002
|
NM_018699.4(PRDM5):c.842G>T (p.Arg281Ile)
|
rs373835306
|
0.00002
|
NM_018699.4(PRDM5):c.921A>G (p.Ala307=)
|
rs190061397
|
0.00002
|
NM_018699.4(PRDM5):c.1188+13A>C
|
rs748042897
|
0.00001
|
NM_018699.4(PRDM5):c.1190C>G (p.Thr397Ser)
|
rs763221182
|
0.00001
|
NM_018699.4(PRDM5):c.125A>C (p.Lys42Thr)
|
rs1269597260
|
0.00001
|
NM_018699.4(PRDM5):c.1272A>G (p.Leu424=)
|
rs1049246932
|
0.00001
|
NM_018699.4(PRDM5):c.1282+10G>A
|
rs201758833
|
0.00001
|
NM_018699.4(PRDM5):c.1379A>G (p.Lys460Arg)
|
rs371617787
|
0.00001
|
NM_018699.4(PRDM5):c.1406C>T (p.Ala469Val)
|
rs757433292
|
0.00001
|
NM_018699.4(PRDM5):c.1548C>T (p.Pro516=)
|
rs573435327
|
0.00001
|
NM_018699.4(PRDM5):c.1550A>G (p.Tyr517Cys)
|
rs763317084
|
0.00001
|
NM_018699.4(PRDM5):c.1644A>T (p.Ser548=)
|
rs374866663
|
0.00001
|
NM_018699.4(PRDM5):c.1768C>T (p.Arg590Ter)
|
rs387907110
|
0.00001
|
NM_018699.4(PRDM5):c.1847A>G (p.Tyr616Cys)
|
rs928901991
|
0.00001
|
NM_018699.4(PRDM5):c.230G>A (p.Arg77Gln)
|
rs750942328
|
0.00001
|
NM_018699.4(PRDM5):c.406C>G (p.Gln136Glu)
|
rs1755222096
|
0.00001
|
NM_018699.4(PRDM5):c.465G>A (p.Ala155=)
|
rs1405110509
|
0.00001
|
NM_018699.4(PRDM5):c.478C>T (p.Arg160Cys)
|
rs748667559
|
0.00001
|
NM_018699.4(PRDM5):c.557T>A (p.Leu186His)
|
rs1251163677
|
0.00001
|
NM_018699.4(PRDM5):c.650+7A>G
|
rs751182540
|
0.00001
|
NM_018699.4(PRDM5):c.669G>A (p.Ala223=)
|
rs754555498
|
0.00001
|
NM_018699.4(PRDM5):c.670A>T (p.Lys224Ter)
|
rs1064794819
|
0.00001
|
NM_018699.4(PRDM5):c.692C>T (p.Ser231Leu)
|
rs750031024
|
0.00001
|
NM_018699.4(PRDM5):c.705G>C (p.Gln235His)
|
rs145114094
|
0.00001
|
NM_018699.4(PRDM5):c.768C>T (p.Cys256=)
|
rs745314631
|
0.00001
|
NM_018699.4(PRDM5):c.86T>A (p.Val29Glu)
|
rs1281285547
|
0.00001
|
NM_018699.4(PRDM5):c.93+10_93+12del
|
rs773523380
|
0.00001
|
NM_018699.4(PRDM5):c.945+17T>A
|
rs761373449
|
0.00001
|
NM_018699.4(PRDM5):c.974del (p.Cys325fs)
|
rs766853150
|
0.00001
|
GRCh37/hg19 4q27(chr4:121564290-121803254)x3
|
|
|
NC_000004.11:g.(?_121616266)_(121616450_?)del
|
|
|
NC_000004.11:g.(?_121616266)_(121675813_?)del
|
|
|
NC_000004.11:g.(?_121616266)_(121720900_?)del
|
|
|
NC_000004.11:g.(?_121616266)_(121720920_?)del
|
|
|
NC_000004.11:g.(?_121616266)_(121742520_?)del
|
|
|
NC_000004.11:g.(?_121616266)_(121843763_?)del
|
|
|
NC_000004.11:g.(?_121675688)_(121675813_?)del
|
|
|
NC_000004.11:g.(?_121720796)_(121720920_?)del
|
|
|
NM_018699.4(PRDM5):c.1010G>A (p.Arg337His)
|
|
|
NM_018699.4(PRDM5):c.102G>A (p.Lys34=)
|
|
|
NM_018699.4(PRDM5):c.1030+10A>G
|
|
|
NM_018699.4(PRDM5):c.1030+13_1030+15del
|
|
|
NM_018699.4(PRDM5):c.1030+14T>G
|
|
|
NM_018699.4(PRDM5):c.1030+20T>G
|
|
|
NM_018699.4(PRDM5):c.1030+20del
|
|
|
NM_018699.4(PRDM5):c.1030+2T>C
|
|
|
NM_018699.4(PRDM5):c.1030+45A>G
|
rs1511309
|
|
NM_018699.4(PRDM5):c.1030+7T>C
|
|
|
NM_018699.4(PRDM5):c.1030+7T>G
|
|
|
NM_018699.4(PRDM5):c.1030G>T (p.Glu344Ter)
|
|
|
NM_018699.4(PRDM5):c.1031-121del
|
rs144058009
|
|
NM_018699.4(PRDM5):c.1031-13A>G
|
|
|
NM_018699.4(PRDM5):c.1031-14C>T
|
|
|
NM_018699.4(PRDM5):c.1031-16C>A
|
|
|
NM_018699.4(PRDM5):c.1031-19C>G
|
|
|
NM_018699.4(PRDM5):c.1031-4dup
|
|
|
NM_018699.4(PRDM5):c.1031-5A>T
|
|
|
NM_018699.4(PRDM5):c.1031-6del
|
|
|
NM_018699.4(PRDM5):c.1031-6dup
|
rs35363618
|
|
NM_018699.4(PRDM5):c.1031-7_1031-6dup
|
|
|
NM_018699.4(PRDM5):c.1031-9T>G
|
|
|
NM_018699.4(PRDM5):c.1032A>G (p.Glu344=)
|
|
|
NM_018699.4(PRDM5):c.1035A>G (p.Lys345=)
|
|
|
NM_018699.4(PRDM5):c.1036C>T (p.Arg346Ter)
|
|
|
NM_018699.4(PRDM5):c.1041C>A (p.Pro347=)
|
|
|
NM_018699.4(PRDM5):c.1050C>T (p.Cys350=)
|
|
|
NM_018699.4(PRDM5):c.1059T>C (p.Cys353=)
|
|
|
NM_018699.4(PRDM5):c.105C>T (p.Phe35=)
|
|
|
NM_018699.4(PRDM5):c.1066T>C (p.Ser356Pro)
|
|
|
NM_018699.4(PRDM5):c.1074G>A (p.Lys358=)
|
|
|
NM_018699.4(PRDM5):c.1075A>C (p.Arg359=)
|
|
|
NM_018699.4(PRDM5):c.1077G>A (p.Arg359=)
|
|
|
NM_018699.4(PRDM5):c.1080T>C (p.Leu360=)
|
|
|
NM_018699.4(PRDM5):c.1111A>G (p.Ser371Gly)
|
|
|
NM_018699.4(PRDM5):c.1113C>T (p.Ser371=)
|
rs148079992
|
|
NM_018699.4(PRDM5):c.1114G>T (p.Glu372Ter)
|
|
|
NM_018699.4(PRDM5):c.111C>G (p.Pro37=)
|
|
|
NM_018699.4(PRDM5):c.111C>T (p.Pro37=)
|
|
|
NM_018699.4(PRDM5):c.1132del (p.Cys378fs)
|
|
|
NM_018699.4(PRDM5):c.1152A>G (p.Gly384=)
|
|
|
NM_018699.4(PRDM5):c.1156G>T (p.Ala386Ser)
|
|
|
NM_018699.4(PRDM5):c.1158C>T (p.Ala386=)
|
|
|
NM_018699.4(PRDM5):c.1167T>C (p.Asn389=)
|
|
|
NM_018699.4(PRDM5):c.1170T>C (p.Val390=)
|
|
|
NM_018699.4(PRDM5):c.1171T>C (p.Tyr391His)
|
|
|
NM_018699.4(PRDM5):c.1188+11T>C
|
|
|
NM_018699.4(PRDM5):c.1188+12T>C
|
|
|
NM_018699.4(PRDM5):c.1188+14_1188+19del
|
|
|
NM_018699.4(PRDM5):c.1188+14_1188+22del
|
|
|
NM_018699.4(PRDM5):c.1188+16A>G
|
|
|
NM_018699.4(PRDM5):c.1188+19A>G
|
|
|
NM_018699.4(PRDM5):c.1188+20T>C
|
|
|
NM_018699.4(PRDM5):c.1189-10T>C
|
|
|
NM_018699.4(PRDM5):c.1189-151C>A
|
rs75436862
|
|
NM_018699.4(PRDM5):c.1189-1G>C
|
|
|
NM_018699.4(PRDM5):c.1189-4G>T
|
|
|
NM_018699.4(PRDM5):c.1189-6C>T
|
|
|
NM_018699.4(PRDM5):c.1189-8C>T
|
|
|
NM_018699.4(PRDM5):c.1191C>G (p.Thr397=)
|
|
|
NM_018699.4(PRDM5):c.1197T>G (p.Ser399=)
|
|
|
NM_018699.4(PRDM5):c.11T>G (p.Met4Arg)
|
|
|
NM_018699.4(PRDM5):c.1208C>T (p.Pro403Leu)
|
|
|
NM_018699.4(PRDM5):c.1209G>A (p.Pro403=)
|
|
|
NM_018699.4(PRDM5):c.120A>G (p.Gly40=)
|
|
|
NM_018699.4(PRDM5):c.1212C>T (p.Phe404=)
|
|
|
NM_018699.4(PRDM5):c.1216T>C (p.Cys406Arg)
|
|
|
NM_018699.4(PRDM5):c.123G>T (p.Glu41Asp)
|
|
|
NM_018699.4(PRDM5):c.1241G>T (p.Arg414Leu)
|
rs753113187
|
|
NM_018699.4(PRDM5):c.1242G>C (p.Arg414=)
|
|
|
NM_018699.4(PRDM5):c.1245C>G (p.Thr415=)
|
|
|
NM_018699.4(PRDM5):c.1248A>G (p.Pro416=)
|
|
|
NM_018699.4(PRDM5):c.1258_1259del (p.Gln420fs)
|
|
|
NM_018699.4(PRDM5):c.1260G>A (p.Gln420=)
|
|
|
NM_018699.4(PRDM5):c.1263A>G (p.Arg421=)
|
|
|
NM_018699.4(PRDM5):c.1266C>T (p.His422=)
|
|
|
NM_018699.4(PRDM5):c.1270C>T (p.Leu424=)
|
|
|
NM_018699.4(PRDM5):c.1282+16G>A
|
rs776670103
|
|
NM_018699.4(PRDM5):c.1282+17G>A
|
|
|
NM_018699.4(PRDM5):c.1282+1G>C
|
|
|
NM_018699.4(PRDM5):c.1283-13C>G
|
|
|
NM_018699.4(PRDM5):c.1283-15C>T
|
|
|
NM_018699.4(PRDM5):c.128G>C (p.Arg43Thr)
|
rs563401372
|
|
NM_018699.4(PRDM5):c.1295del (p.Phe432fs)
|
|
|
NM_018699.4(PRDM5):c.1299G>A (p.Lys433=)
|
|
|
NM_018699.4(PRDM5):c.12G>C (p.Met4Ile)
|
|
|
NM_018699.4(PRDM5):c.1311C>T (p.Cys437=)
|
|
|
NM_018699.4(PRDM5):c.1316C>T (p.Ala439Val)
|
|
|
NM_018699.4(PRDM5):c.1317T>C (p.Ala439=)
|
|
|
NM_018699.4(PRDM5):c.1320C>G (p.Thr440=)
|
|
|
NM_018699.4(PRDM5):c.1326G>A (p.Lys442=)
|
|
|
NM_018699.4(PRDM5):c.1338A>G (p.Thr446=)
|
|
|
NM_018699.4(PRDM5):c.1353C>T (p.Val451=)
|
|
|
NM_018699.4(PRDM5):c.1356G>A (p.Gln452=)
|
|
|
NM_018699.4(PRDM5):c.1359G>C (p.Val453=)
|
|
|
NM_018699.4(PRDM5):c.1395A>C (p.Leu465=)
|
|
|
NM_018699.4(PRDM5):c.1413T>A (p.Val471=)
|
|
|
NM_018699.4(PRDM5):c.1419T>G (p.Pro473=)
|
|
|
NM_018699.4(PRDM5):c.1422A>G (p.Ser474=)
|
|
|
NM_018699.4(PRDM5):c.1425G>C (p.Val475=)
|
|
|
NM_018699.4(PRDM5):c.1437T>C (p.His479=)
|
|
|
NM_018699.4(PRDM5):c.143del (p.Leu48fs)
|
|
|
NM_018699.4(PRDM5):c.1443+11G>A
|
|
|
NM_018699.4(PRDM5):c.1443+15T>C
|
|
|
NM_018699.4(PRDM5):c.1443+15_1443+17del
|
|
|
NM_018699.4(PRDM5):c.1443+16C>G
|
|
|
NM_018699.4(PRDM5):c.1443+18G>C
|
|
|
NM_018699.4(PRDM5):c.1443+2T>G
|
|
|
NM_018699.4(PRDM5):c.1444-14C>T
|
|
|
NM_018699.4(PRDM5):c.1444-16A>G
|
|
|
NM_018699.4(PRDM5):c.1444-18T>C
|
|
|
NM_018699.4(PRDM5):c.1444-58A>C
|
rs72921539
|
|
NM_018699.4(PRDM5):c.1452A>C (p.Thr484=)
|
|
|
NM_018699.4(PRDM5):c.1473T>C (p.Cys491=)
|
|
|
NM_018699.4(PRDM5):c.1476A>G (p.Pro492=)
|
|
|
NM_018699.4(PRDM5):c.1482T>C (p.Cys494=)
|
|
|
NM_018699.4(PRDM5):c.1491A>G (p.Lys497=)
|
|
|
NM_018699.4(PRDM5):c.1500C>A (p.Ser500Arg)
|
rs2149226872
|
|
NM_018699.4(PRDM5):c.1507A>T (p.Thr503Ser)
|
rs373140800
|
|
NM_018699.4(PRDM5):c.1509A>G (p.Thr503=)
|
|
|
NM_018699.4(PRDM5):c.1513dup (p.Arg505fs)
|
|
|
NM_018699.4(PRDM5):c.1526G>A (p.Arg509Gln)
|
|
|
NM_018699.4(PRDM5):c.1527G>C (p.Arg509=)
|
|
|
NM_018699.4(PRDM5):c.1527G>T (p.Arg509=)
|
|
|
NM_018699.4(PRDM5):c.1532del (p.His511fs)
|
|
|
NM_018699.4(PRDM5):c.1537+10T>C
|
|
|
NM_018699.4(PRDM5):c.1537+12G>A
|
|
|
NM_018699.4(PRDM5):c.1537+13T>C
|
|
|
NM_018699.4(PRDM5):c.1537+14A>G
|
|
|
NM_018699.4(PRDM5):c.1537+19G>A
|
|
|
NM_018699.4(PRDM5):c.1538-14T>C
|
|
|
NM_018699.4(PRDM5):c.1538-19A>C
|
|
|
NM_018699.4(PRDM5):c.1538-20G>A
|
|
|
NM_018699.4(PRDM5):c.1538-5T>G
|
rs1744464153
|
|
NM_018699.4(PRDM5):c.153T>C (p.Asn51=)
|
|
|
NM_018699.4(PRDM5):c.1542G>A (p.Glu514=)
|
|
|
NM_018699.4(PRDM5):c.1554A>G (p.Gln518=)
|
|
|
NM_018699.4(PRDM5):c.155T>C (p.Met52Thr)
|
rs948965979
|
|
NM_018699.4(PRDM5):c.1569A>G (p.Glu523=)
|
|
|
NM_018699.4(PRDM5):c.1575A>G (p.Gly525=)
|
|
|
NM_018699.4(PRDM5):c.15C>T (p.Tyr5=)
|
|
|
NM_018699.4(PRDM5):c.1623+10T>A
|
|
|
NM_018699.4(PRDM5):c.1623+11A>T
|
|
|
NM_018699.4(PRDM5):c.1623+12T>C
|
|
|
NM_018699.4(PRDM5):c.1623+14_1623+15del
|
|
|
NM_018699.4(PRDM5):c.1623+16G>C
|
|
|
NM_018699.4(PRDM5):c.1624-10T>C
|
|
|
NM_018699.4(PRDM5):c.1624-11G>T
|
|
|
NM_018699.4(PRDM5):c.1624-12T>C
|
|
|
NM_018699.4(PRDM5):c.1624-13_1624-12del
|
|
|
NM_018699.4(PRDM5):c.1629G>A (p.Lys543=)
|
|
|
NM_018699.4(PRDM5):c.1632G>T (p.Pro544=)
|
|
|
NM_018699.4(PRDM5):c.1641C>T (p.Cys547=)
|
|
|
NM_018699.4(PRDM5):c.164G>C (p.Arg55Thr)
|
|
|
NM_018699.4(PRDM5):c.1666C>T (p.Gln556Ter)
|
|
|
NM_018699.4(PRDM5):c.166T>A (p.Leu56Met)
|
|
|
NM_018699.4(PRDM5):c.1672C>T (p.Arg558Ter)
|
|
|
NM_018699.4(PRDM5):c.1682A>G (p.Asp561Gly)
|
|
|
NM_018699.4(PRDM5):c.1697C>T (p.Thr566Met)
|
|
|
NM_018699.4(PRDM5):c.1698G>A (p.Thr566=)
|
rs764095834
|
|
NM_018699.4(PRDM5):c.1698G>T (p.Thr566=)
|
|
|
NM_018699.4(PRDM5):c.1713G>A (p.Lys571=)
|
|
|
NM_018699.4(PRDM5):c.1728+10G>A
|
|
|
NM_018699.4(PRDM5):c.1728+12T>C
|
|
|
NM_018699.4(PRDM5):c.1728+13T>G
|
|
|
NM_018699.4(PRDM5):c.1728+18T>C
|
|
|
NM_018699.4(PRDM5):c.1728+18del
|
|
|
NM_018699.4(PRDM5):c.1728+7T>G
|
|
|
NM_018699.4(PRDM5):c.1728+88_1728+89insTA
|
rs71597093
|
|
NM_018699.4(PRDM5):c.1728+8T>C
|
|
|
NM_018699.4(PRDM5):c.1729-17C>A
|
|
|
NM_018699.4(PRDM5):c.1729-19G>A
|
|
|
NM_018699.4(PRDM5):c.1729-20G>A
|
|
|
NM_018699.4(PRDM5):c.1734T>C (p.Cys578=)
|
|
|
NM_018699.4(PRDM5):c.1743T>C (p.Ala581=)
|
|
|
NM_018699.4(PRDM5):c.1758A>G (p.Lys586=)
|
|
|
NM_018699.4(PRDM5):c.177+123dup
|
rs61156380
|
|
NM_018699.4(PRDM5):c.177+139del
|
rs61156380
|
|
NM_018699.4(PRDM5):c.177+15T>G
|
|
|
NM_018699.4(PRDM5):c.177+16A>G
|
|
|
NM_018699.4(PRDM5):c.177+17T>G
|
|
|
NM_018699.4(PRDM5):c.177+2T>G
|
|
|
NM_018699.4(PRDM5):c.177+9A>G
|
|
|
NM_018699.4(PRDM5):c.178-15C>G
|
|
|
NM_018699.4(PRDM5):c.178-18G>A
|
|
|
NM_018699.4(PRDM5):c.178-18G>T
|
|
|
NM_018699.4(PRDM5):c.178-20A>G
|
|
|
NM_018699.4(PRDM5):c.178-239G>A
|
rs2597546
|
|
NM_018699.4(PRDM5):c.178-8T>C
|
|
|
NM_018699.4(PRDM5):c.1788T>C (p.Asn596=)
|
|
|
NM_018699.4(PRDM5):c.178G>T (p.Val60Phe)
|
|
|
NM_018699.4(PRDM5):c.1791C>T (p.Pro597=)
|
|
|
NM_018699.4(PRDM5):c.1793A>G (p.Asn598Ser)
|
rs1306216582
|
|
NM_018699.4(PRDM5):c.1805C>G (p.Ala602Gly)
|
|
|
NM_018699.4(PRDM5):c.1809A>G (p.Glu603=)
|
|
|
NM_018699.4(PRDM5):c.180T>C (p.Val60=)
|
|
|
NM_018699.4(PRDM5):c.183T>G (p.Arg61=)
|
|
|
NM_018699.4(PRDM5):c.1848C>T (p.Tyr616=)
|
|
|
NM_018699.4(PRDM5):c.1851C>T (p.Leu617=)
|
rs767571327
|
|
NM_018699.4(PRDM5):c.1855G>A (p.Val619Met)
|
|
|
NM_018699.4(PRDM5):c.1862T>C (p.Met621Thr)
|
|
|
NM_018699.4(PRDM5):c.1890C>T (p.Ser630=)
|
|
|
NM_018699.4(PRDM5):c.1893A>G (p.Ter631=)
|
|
|
NM_018699.4(PRDM5):c.18G>A (p.Val6=)
|
|
|
NM_018699.4(PRDM5):c.207C>T (p.Tyr69=)
|
|
|
NM_018699.4(PRDM5):c.21G>A (p.Pro7=)
|
|
|
NM_018699.4(PRDM5):c.21G>T (p.Pro7=)
|
|
|
NM_018699.4(PRDM5):c.222C>T (p.Thr74=)
|
|
|
NM_018699.4(PRDM5):c.231G>A (p.Arg77=)
|
|
|
NM_018699.4(PRDM5):c.234_300+335delinsA
|
|
|
NM_018699.4(PRDM5):c.235_300+335delinsA
|
|
|
NM_018699.4(PRDM5):c.237C>G (p.Ser79=)
|
|
|
NM_018699.4(PRDM5):c.237C>T (p.Ser79=)
|
rs374500219
|
|
NM_018699.4(PRDM5):c.246del (p.Arg83fs)
|
|
|
NM_018699.4(PRDM5):c.24C>T (p.Asp8=)
|
|
|
NM_018699.4(PRDM5):c.253G>A (p.Val85Ile)
|
|
|
NM_018699.4(PRDM5):c.268T>A (p.Ser90Thr)
|
|
|
NM_018699.4(PRDM5):c.294C>A (p.Ala98=)
|
rs1578994254
|
|
NM_018699.4(PRDM5):c.300+13G>A
|
|
|
NM_018699.4(PRDM5):c.300+17C>G
|
|
|
NM_018699.4(PRDM5):c.300+19C>T
|
|
|
NM_018699.4(PRDM5):c.300+19del
|
|
|
NM_018699.4(PRDM5):c.300+7T>G
|
|
|
NM_018699.4(PRDM5):c.300+8T>C
|
|
|
NM_018699.4(PRDM5):c.300A>G (p.Gln100=)
|
|
|
NM_018699.4(PRDM5):c.301-10T>A
|
|
|
NM_018699.4(PRDM5):c.301-10T>C
|
|
|
NM_018699.4(PRDM5):c.301-11A>C
|
|
|
NM_018699.4(PRDM5):c.301-11dup
|
|
|
NM_018699.4(PRDM5):c.301-13A>C
|
|
|
NM_018699.4(PRDM5):c.301-14A>C
|
|
|
NM_018699.4(PRDM5):c.307G>T (p.Glu103Ter)
|
|
|
NM_018699.4(PRDM5):c.309A>G (p.Glu103=)
|
|
|
NM_018699.4(PRDM5):c.310A>G (p.Asn104Asp)
|
rs887320638
|
|
NM_018699.4(PRDM5):c.321T>C (p.Tyr107=)
|
|
|
NM_018699.4(PRDM5):c.337A>G (p.Ile113Val)
|
|
|
NM_018699.4(PRDM5):c.338_341del (p.Ile113fs)
|
|
|
NM_018699.4(PRDM5):c.351G>A (p.Thr117=)
|
|
|
NM_018699.4(PRDM5):c.358C>T (p.Leu120=)
|
|
|
NM_018699.4(PRDM5):c.36G>T (p.Leu12=)
|
rs755929725
|
|
NM_018699.4(PRDM5):c.402A>C (p.Glu134Asp)
|
|
|
NM_018699.4(PRDM5):c.423C>T (p.Ile141=)
|
|
|
NM_018699.4(PRDM5):c.42C>G (p.Ser14=)
|
|
|
NM_018699.4(PRDM5):c.448A>G (p.Arg150Gly)
|
|
|
NM_018699.4(PRDM5):c.450A>G (p.Arg150=)
|
|
|
NM_018699.4(PRDM5):c.453A>G (p.Arg151=)
|
|
|
NM_018699.4(PRDM5):c.456A>G (p.Gln152=)
|
|
|
NM_018699.4(PRDM5):c.472A>T (p.Lys158Ter)
|
rs2149347262
|
|
NM_018699.4(PRDM5):c.475+16T>C
|
|
|
NM_018699.4(PRDM5):c.475+19G>C
|
|
|
NM_018699.4(PRDM5):c.475+6G>C
|
rs1367821206
|
|
NM_018699.4(PRDM5):c.475+7C>T
|
|
|
NM_018699.4(PRDM5):c.476-10G>A
|
|
|
NM_018699.4(PRDM5):c.476-13T>G
|
|
|
NM_018699.4(PRDM5):c.476-16C>T
|
|
|
NM_018699.4(PRDM5):c.476-17T>G
|
|
|
NM_018699.4(PRDM5):c.476-18T>C
|
|
|
NM_018699.4(PRDM5):c.476-6G>A
|
|
|
NM_018699.4(PRDM5):c.480C>T (p.Arg160=)
|
|
|
NM_018699.4(PRDM5):c.495G>A (p.Glu165=)
|
|
|
NM_018699.4(PRDM5):c.4C>T (p.Leu2=)
|
|
|
NM_018699.4(PRDM5):c.503_506del (p.Ala168fs)
|
|
|
NM_018699.4(PRDM5):c.507T>C (p.Cys169=)
|
|
|
NM_018699.4(PRDM5):c.513A>G (p.Gln171=)
|
|
|
NM_018699.4(PRDM5):c.522G>A (p.Ser174=)
|
|
|
NM_018699.4(PRDM5):c.530C>G (p.Thr177Ser)
|
|
|
NM_018699.4(PRDM5):c.543T>A (p.Ile181=)
|
|
|
NM_018699.4(PRDM5):c.546T>G (p.Leu182=)
|
|
|
NM_018699.4(PRDM5):c.548C>T (p.Ala183Val)
|
rs2149341852
|
|
NM_018699.4(PRDM5):c.552G>A (p.Glu184=)
|
|
|
NM_018699.4(PRDM5):c.555T>C (p.His185=)
|
|
|
NM_018699.4(PRDM5):c.558C>G (p.Leu186=)
|
|
|
NM_018699.4(PRDM5):c.558C>T (p.Leu186=)
|
|
|
NM_018699.4(PRDM5):c.564A>G (p.Thr188=)
|
|
|
NM_018699.4(PRDM5):c.564A>T (p.Thr188=)
|
|
|
NM_018699.4(PRDM5):c.571C>T (p.Gln191Ter)
|
|
|
NM_018699.4(PRDM5):c.585G>A (p.Glu195=)
|
|
|
NM_018699.4(PRDM5):c.603C>G (p.Cys201Trp)
|
|
|
NM_018699.4(PRDM5):c.642G>A (p.Leu214=)
|
|
|
NM_018699.4(PRDM5):c.644A>G (p.Gln215Arg)
|
|
|
NM_018699.4(PRDM5):c.650+118del
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rs3840104
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NM_018699.4(PRDM5):c.650+11T>A
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NM_018699.4(PRDM5):c.650+12A>G
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NM_018699.4(PRDM5):c.650+13A>G
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NM_018699.4(PRDM5):c.650+15G>T
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NM_018699.4(PRDM5):c.650+17A>C
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NM_018699.4(PRDM5):c.650+17A>G
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NM_018699.4(PRDM5):c.650+20A>G
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NM_018699.4(PRDM5):c.650+4C>A
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NM_018699.4(PRDM5):c.650+81TG[9]
|
rs36062004
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NM_018699.4(PRDM5):c.651-12A>G
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NM_018699.4(PRDM5):c.651-13T>C
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NM_018699.4(PRDM5):c.651-15C>T
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NM_018699.4(PRDM5):c.651-18T>C
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NM_018699.4(PRDM5):c.651-21_651-20del
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rs756265026
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NM_018699.4(PRDM5):c.651-8C>G
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NM_018699.4(PRDM5):c.653T>C (p.Val218Ala)
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NM_018699.4(PRDM5):c.663C>T (p.Cys221=)
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NM_018699.4(PRDM5):c.66G>A (p.Gly22=)
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NM_018699.4(PRDM5):c.676A>T (p.Ser226Cys)
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rs1754592780
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NM_018699.4(PRDM5):c.687G>A (p.Glu229=)
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NM_018699.4(PRDM5):c.693G>A (p.Ser231=)
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NM_018699.4(PRDM5):c.694C>T (p.Arg232Ter)
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NM_018699.4(PRDM5):c.69C>G (p.Leu23=)
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NM_018699.4(PRDM5):c.69C>T (p.Leu23=)
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NM_018699.4(PRDM5):c.710C>T (p.Ser237Phe)
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NM_018699.4(PRDM5):c.711T>C (p.Ser237=)
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NM_018699.4(PRDM5):c.72C>T (p.Tyr24=)
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NM_018699.4(PRDM5):c.741G>A (p.Ser247=)
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NM_018699.4(PRDM5):c.743+12G>C
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NM_018699.4(PRDM5):c.743+14G>C
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NM_018699.4(PRDM5):c.743+18T>C
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NM_018699.4(PRDM5):c.743+20A>C
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NM_018699.4(PRDM5):c.743G>A (p.Ser248Asn)
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NM_018699.4(PRDM5):c.744-15C>A
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NM_018699.4(PRDM5):c.744-17T>C
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rs2149337025
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NM_018699.4(PRDM5):c.744-18T>C
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NM_018699.4(PRDM5):c.744-20C>T
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NM_018699.4(PRDM5):c.744-3_748del
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NM_018699.4(PRDM5):c.750G>A (p.Glu250=)
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NM_018699.4(PRDM5):c.753G>T (p.Gln251His)
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NM_018699.4(PRDM5):c.756C>T (p.His252=)
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NM_018699.4(PRDM5):c.757C>A (p.Gln253Lys)
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NM_018699.4(PRDM5):c.75G>C (p.Thr25=)
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NM_018699.4(PRDM5):c.75G>T (p.Thr25=)
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rs1179995272
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NM_018699.4(PRDM5):c.762G>A (p.Glu254=)
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rs1578855615
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NM_018699.4(PRDM5):c.769C>G (p.Arg257Gly)
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NM_018699.4(PRDM5):c.769C>T (p.Arg257Trp)
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NM_018699.4(PRDM5):c.770G>A (p.Arg257Gln)
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NM_018699.4(PRDM5):c.770G>C (p.Arg257Pro)
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rs756946467
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NM_018699.4(PRDM5):c.771G>T (p.Arg257=)
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NM_018699.4(PRDM5):c.774G>A (p.Gly258=)
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NM_018699.4(PRDM5):c.775dup (p.Asp259fs)
|
rs1057517804
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NM_018699.4(PRDM5):c.783G>T (p.Arg261Ser)
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NM_018699.4(PRDM5):c.789G>C (p.Val263=)
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NM_018699.4(PRDM5):c.78C>T (p.Ala26=)
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NM_018699.4(PRDM5):c.791G>A (p.Cys264Tyr)
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NM_018699.4(PRDM5):c.806_834dup (p.Leu279delinsValGluArgGlyTer)
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NM_018699.4(PRDM5):c.812A>G (p.Lys271Arg)
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NM_018699.4(PRDM5):c.828G>A (p.Lys276=)
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NM_018699.4(PRDM5):c.834C>T (p.Ala278=)
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NM_018699.4(PRDM5):c.836T>C (p.Leu279Pro)
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NM_018699.4(PRDM5):c.83G>A (p.Arg28Lys)
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NM_018699.4(PRDM5):c.840A>G (p.Lys280=)
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NM_018699.4(PRDM5):c.861C>T (p.His287=)
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NM_018699.4(PRDM5):c.865+11G>A
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NM_018699.4(PRDM5):c.865+11G>C
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NM_018699.4(PRDM5):c.865+15G>A
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NM_018699.4(PRDM5):c.865+17G>A
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NM_018699.4(PRDM5):c.865+1G>A
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NM_018699.4(PRDM5):c.866-11T>A
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NM_018699.4(PRDM5):c.866-11_866-10del
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NM_018699.4(PRDM5):c.866-15T>C
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NM_018699.4(PRDM5):c.866-20G>A
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NM_018699.4(PRDM5):c.866-20G>T
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NM_018699.4(PRDM5):c.866-9C>A
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NM_018699.4(PRDM5):c.866G>A (p.Gly289Glu)
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NM_018699.4(PRDM5):c.867A>G (p.Gly289=)
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NM_018699.4(PRDM5):c.870T>C (p.Asp290=)
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NM_018699.4(PRDM5):c.870T>G (p.Asp290Glu)
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NM_018699.4(PRDM5):c.879A>G (p.Lys293=)
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NM_018699.4(PRDM5):c.882G>A (p.Lys294=)
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NM_018699.4(PRDM5):c.88C>A (p.Arg30=)
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NM_018699.4(PRDM5):c.893C>A (p.Ser298Ter)
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NM_018699.4(PRDM5):c.895G>T (p.Val299Leu)
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NM_018699.4(PRDM5):c.898T>C (p.Cys300Arg)
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NM_018699.4(PRDM5):c.911G>A (p.Cys304Tyr)
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NM_018699.4(PRDM5):c.93+10C>G
|
rs781305440
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NM_018699.4(PRDM5):c.93+10C>T
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NM_018699.4(PRDM5):c.93+12G>A
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NM_018699.4(PRDM5):c.93+13G>A
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NM_018699.4(PRDM5):c.93+14C>T
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NM_018699.4(PRDM5):c.93+16G>A
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NM_018699.4(PRDM5):c.93+17C>T
|
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NM_018699.4(PRDM5):c.93+202C>T
|
rs3761726
|
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NM_018699.4(PRDM5):c.93+20C>T
|
|
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NM_018699.4(PRDM5):c.93+240C>A
|
rs541636331
|
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NM_018699.4(PRDM5):c.93+7G>A
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NM_018699.4(PRDM5):c.93+9C>G
|
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NM_018699.4(PRDM5):c.93+9C>T
|
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NM_018699.4(PRDM5):c.93G>C (p.Lys31Asn)
|
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NM_018699.4(PRDM5):c.94-13del
|
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NM_018699.4(PRDM5):c.94-16A>G
|
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NM_018699.4(PRDM5):c.94-5C>T
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NM_018699.4(PRDM5):c.94-6A>G
|
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NM_018699.4(PRDM5):c.945+13A>G
|
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NM_018699.4(PRDM5):c.945+16del
|
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NM_018699.4(PRDM5):c.945+184dup
|
rs3838231
|
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NM_018699.4(PRDM5):c.945+1G>T
|
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NM_018699.4(PRDM5):c.945+20A>G
|
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NM_018699.4(PRDM5):c.946-10C>T
|
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NM_018699.4(PRDM5):c.946-11A>T
|
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NM_018699.4(PRDM5):c.946-14T>C
|
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NM_018699.4(PRDM5):c.946-15_946-12del
|
rs751772229
|
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NM_018699.4(PRDM5):c.946-16A>G
|
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NM_018699.4(PRDM5):c.946-17T>G
|
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NM_018699.4(PRDM5):c.946-20_946-17del
|
rs755237174
|
|
NM_018699.4(PRDM5):c.946-5del
|
rs1578781216
|
|
NM_018699.4(PRDM5):c.946-7T>G
|
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NM_018699.4(PRDM5):c.946-9C>T
|
rs886059042
|
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NM_018699.4(PRDM5):c.969A>G (p.Gln323=)
|
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NM_018699.4(PRDM5):c.976A>G (p.Met326Val)
|
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NM_018699.4(PRDM5):c.981G>A (p.Lys327=)
|
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NM_018699.4(PRDM5):c.987T>C (p.Phe329=)
|
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