NM_198859.4(PRICKLE2):c.816T>C (p.Asp272=)
|
rs27673
|
0.98545
|
NM_004287.5(GOSR2):c.*301T>C
|
rs8078556
|
0.93627
|
NM_198859.4(PRICKLE2):c.*1605T>G
|
rs26938
|
0.93091
|
NM_198859.4(PRICKLE2):c.*2772A>G
|
rs27383
|
0.92477
|
NM_198859.4(PRICKLE2):c.*4733G>A
|
rs153732
|
0.90732
|
NM_198859.4(PRICKLE2):c.*4797G>A
|
rs153733
|
0.90729
|
NM_198859.4(PRICKLE2):c.*695A>C
|
rs26937
|
0.54681
|
NM_004287.5(GOSR2):c.*2337T>C
|
rs1052586
|
0.48306
|
NM_004287.5(GOSR2):c.*1519T>C
|
rs4968286
|
0.44908
|
NM_004287.5(GOSR2):c.*1733A>G
|
rs758392
|
0.41414
|
NM_004287.5(GOSR2):c.*1115G>A
|
rs758391
|
0.38725
|
NM_198859.4(PRICKLE2):c.*3491A>G
|
rs153730
|
0.35921
|
NM_198859.4(PRICKLE2):c.259-6A>G
|
rs2306380
|
0.35289
|
NM_198859.4(PRICKLE2):c.*1763G>A
|
rs26939
|
0.33203
|
NM_004287.5(GOSR2):c.200G>A (p.Arg67Lys)
|
rs197922
|
0.32616
|
NM_198859.4(PRICKLE2):c.579G>A (p.Pro193=)
|
rs17720698
|
0.24032
|
NM_198859.4(PRICKLE2):c.*2797A>T
|
rs35969433
|
0.18557
|
NM_198859.4(PRICKLE2):c.-557C>T
|
rs697287
|
0.17712
|
NM_198859.4(PRICKLE2):c.*1310C>T
|
rs17069879
|
0.16935
|
NM_198859.4(PRICKLE2):c.*2891C>T
|
rs34723451
|
0.15467
|
NM_198859.4(PRICKLE2):c.*2724C>A
|
rs12494731
|
0.14074
|
NM_004287.5(GOSR2):c.*2292C>T
|
rs79673308
|
0.10999
|
NM_004287.5(GOSR2):c.*1067G>A
|
rs11874
|
0.08663
|
NM_198859.4(PRICKLE2):c.*2447G>A
|
rs56262708
|
0.07615
|
NM_198859.4(PRICKLE2):c.984C>T (p.Asn328=)
|
rs34460293
|
0.06381
|
NM_198859.4(PRICKLE2):c.*1589G>A
|
rs62249882
|
0.04161
|
NM_004287.5(GOSR2):c.*1062A>T
|
rs16941324
|
0.03601
|
NM_000100.3(CSTB):c.-54C>T
|
rs59649299
|
0.03508
|
NM_004287.5(GOSR2):c.*1655A>G
|
rs116123534
|
0.03006
|
NM_198859.4(PRICKLE2):c.*2567A>T
|
rs62249881
|
0.02734
|
NM_198859.4(PRICKLE2):c.*3333T>C
|
rs72874609
|
0.02403
|
NM_004287.5(GOSR2):c.*2342A>G
|
rs61745471
|
0.01873
|
NM_000100.4(CSTB):c.15G>T (p.Ala5=)
|
rs4533
|
0.01826
|
NM_198859.4(PRICKLE2):c.1551G>A (p.Gln517=)
|
rs116353694
|
0.01695
|
NM_000100.4(CSTB):c.*74T>C
|
rs6385
|
0.01682
|
NM_000100.4(CSTB):c.*93A>G
|
rs9446
|
0.01254
|
NM_198859.4(PRICKLE2):c.-252G>C
|
rs142388795
|
0.01230
|
NM_198859.4(PRICKLE2):c.-68G>A
|
rs150393747
|
0.01201
|
NM_004287.5(GOSR2):c.*2293G>A
|
rs77706742
|
0.01200
|
NM_198859.4(PRICKLE2):c.*1277C>G
|
rs17069880
|
0.00857
|
NM_198859.4(PRICKLE2):c.*3489G>A
|
rs143062140
|
0.00811
|
NM_000100.3(CSTB):c.*355C>G
|
rs143062585
|
0.00808
|
NM_000100.4(CSTB):c.*69A>G
|
rs142767585
|
0.00798
|
NM_198859.4(PRICKLE2):c.*3852C>A
|
rs153731
|
0.00717
|
NM_004287.5(GOSR2):c.*1377G>A
|
rs180777362
|
0.00573
|
NM_198859.4(PRICKLE2):c.*3864T>C
|
rs544825776
|
0.00560
|
NM_000100.4(CSTB):c.67-3T>C
|
rs6383
|
0.00473
|
NM_198859.4(PRICKLE2):c.*1044C>T
|
rs111362297
|
0.00452
|
NM_198859.4(PRICKLE2):c.-370G>A
|
rs139238137
|
0.00356
|
NM_004287.5(GOSR2):c.*1679A>G
|
rs149765350
|
0.00273
|
NM_198859.4(PRICKLE2):c.-562G>A
|
rs113321925
|
0.00266
|
NM_198859.4(PRICKLE2):c.*560T>A
|
rs528463950
|
0.00238
|
NM_004287.5(GOSR2):c.40G>A (p.Glu14Lys)
|
rs113817924
|
0.00232
|
NM_198859.4(PRICKLE2):c.1527G>A (p.Glu509=)
|
rs144455095
|
0.00228
|
NM_198859.4(PRICKLE2):c.-482A>G
|
rs143342419
|
0.00219
|
NM_198859.4(PRICKLE2):c.*4057G>A
|
rs140931283
|
0.00204
|
NM_198859.4(PRICKLE2):c.444C>T (p.Arg148=)
|
rs146538069
|
0.00190
|
NM_004287.5(GOSR2):c.*2057C>T
|
rs368549324
|
0.00180
|
NM_198859.4(PRICKLE2):c.788-6T>C
|
rs180903875
|
0.00143
|
NM_198859.4(PRICKLE2):c.457G>A (p.Val153Ile)
|
rs139747674
|
0.00120
|
NM_000100.4(CSTB):c.121G>A (p.Val41Met)
|
rs143153487
|
0.00101
|
NM_198859.4(PRICKLE2):c.*4994C>T
|
rs190966782
|
0.00089
|
NM_198859.4(PRICKLE2):c.1314G>C (p.Gln438His)
|
rs202170644
|
0.00064
|
NM_198859.4(PRICKLE2):c.*3632T>C
|
rs140681630
|
0.00063
|
NM_000100.3(CSTB):c.*435G>A
|
rs149039598
|
0.00061
|
NM_198859.4(PRICKLE2):c.*4472G>T
|
rs575410668
|
0.00059
|
NM_004287.5(GOSR2):c.*2336A>T
|
rs569751775
|
0.00055
|
NM_004287.5(GOSR2):c.*1703A>G
|
rs144662292
|
0.00053
|
NM_004287.5(GOSR2):c.148C>T (p.Arg50Cys)
|
rs143754727
|
0.00052
|
NM_000100.3(CSTB):c.*319G>A
|
rs536069557
|
0.00050
|
NM_198859.4(PRICKLE2):c.*2290T>C
|
rs192971326
|
0.00048
|
NM_198859.4(PRICKLE2):c.-258C>T
|
rs1044268884
|
0.00048
|
NM_198859.4(PRICKLE2):c.*1868G>C
|
rs886058791
|
0.00036
|
NM_004287.5(GOSR2):c.*2192T>G
|
rs545130658
|
0.00034
|
NM_198859.4(PRICKLE2):c.*3830T>C
|
rs574878914
|
0.00032
|
NM_198859.4(PRICKLE2):c.*3755A>G
|
rs756531877
|
0.00029
|
NM_000100.4(CSTB):c.67-1G>C
|
rs147484110
|
0.00027
|
NM_198859.4(PRICKLE2):c.*3116C>T
|
rs1045343958
|
0.00026
|
NM_198859.4(PRICKLE2):c.690C>T (p.Gly230=)
|
rs144338942
|
0.00023
|
NM_004287.5(GOSR2):c.*2291C>G
|
rs186093347
|
0.00021
|
NM_198859.4(PRICKLE2):c.*133G>A
|
rs370569305
|
0.00021
|
NM_198859.4(PRICKLE2):c.-146G>A
|
rs539401922
|
0.00021
|
NM_198859.4(PRICKLE2):c.*3325G>A
|
rs531639386
|
0.00018
|
NM_198859.4(PRICKLE2):c.*1991C>T
|
rs570616523
|
0.00017
|
NM_198859.4(PRICKLE2):c.*4354C>G
|
rs186186236
|
0.00017
|
NM_000100.3(CSTB):c.-42C>T
|
rs776181852
|
0.00016
|
NM_004287.5(GOSR2):c.*1446A>T
|
rs572361575
|
0.00016
|
NM_000100.3(CSTB):c.*334G>A
|
rs533969154
|
0.00015
|
NM_198859.4(PRICKLE2):c.*2475G>A
|
rs905971725
|
0.00014
|
NM_198859.4(PRICKLE2):c.2103G>T (p.Leu701=)
|
rs200220646
|
0.00014
|
NM_000100.4(CSTB):c.-12G>A
|
rs779920568
|
0.00013
|
NM_198859.4(PRICKLE2):c.*690G>A
|
rs779719872
|
0.00013
|
NM_198859.4(PRICKLE2):c.-447C>T
|
rs886058806
|
0.00013
|
NM_198859.4(PRICKLE2):c.445G>T (p.Ala149Ser)
|
rs202025796
|
0.00013
|
NM_198859.4(PRICKLE2):c.*3504C>T
|
rs538054092
|
0.00012
|
NM_198859.4(PRICKLE2):c.*469G>T
|
rs148724634
|
0.00012
|
NM_198859.4(PRICKLE2):c.594C>T (p.Cys198=)
|
rs367680077
|
0.00012
|
NM_198859.4(PRICKLE2):c.*1982A>G
|
rs377752523
|
0.00011
|
NM_004287.5(GOSR2):c.246T>C (p.Thr82=)
|
rs141380070
|
0.00010
|
NM_198859.4(PRICKLE2):c.*1568C>T
|
rs558482444
|
0.00010
|
NM_198859.4(PRICKLE2):c.*4769A>G
|
rs981163962
|
0.00010
|
NM_198859.4(PRICKLE2):c.*5092T>C
|
rs1056419773
|
0.00009
|
NM_198859.4(PRICKLE2):c.1602G>A (p.Thr534=)
|
rs144757200
|
0.00009
|
NM_000100.4(CSTB):c.45G>A (p.Glu15=)
|
rs1057521317
|
0.00007
|
NM_198859.4(PRICKLE2):c.*146C>T
|
rs142263776
|
0.00007
|
NM_198859.4(PRICKLE2):c.*65G>A
|
rs575414554
|
0.00007
|
NM_000100.3(CSTB):c.*301G>A
|
rs886057111
|
0.00006
|
NM_153026.3(PRICKLE1):c.*594_*595del
|
rs769616581
|
0.00006
|
NM_153026.3(PRICKLE1):c.-279_-277dup
|
rs886049380
|
0.00006
|
NM_198859.4(PRICKLE2):c.-122G>T
|
rs536662179
|
0.00006
|
NM_198859.4(PRICKLE2):c.1639C>A (p.Leu547Met)
|
rs368904012
|
0.00006
|
NM_004287.5(GOSR2):c.404A>G (p.Asn135Ser)
|
rs765513191
|
0.00004
|
NM_198859.4(PRICKLE2):c.*3672C>G
|
rs904907709
|
0.00004
|
NM_198859.4(PRICKLE2):c.-285A>T
|
rs886058803
|
0.00004
|
NM_198859.4(PRICKLE2):c.345C>T (p.Arg115=)
|
rs148888682
|
0.00004
|
NM_000100.4(CSTB):c.*209A>T
|
rs1466237377
|
0.00003
|
NM_000100.4(CSTB):c.9C>T (p.Cys3=)
|
rs555930471
|
0.00003
|
NM_004287.5(GOSR2):c.*18G>T
|
rs778066395
|
0.00003
|
NM_004287.5(GOSR2):c.*2253C>T
|
rs886053085
|
0.00003
|
NM_153026.3(PRICKLE1):c.*614G>A
|
rs886049372
|
0.00003
|
NM_198859.4(PRICKLE2):c.*2633G>A
|
rs140420417
|
0.00003
|
NM_198859.4(PRICKLE2):c.*2909T>A
|
rs545276442
|
0.00003
|
NM_198859.4(PRICKLE2):c.*4109C>G
|
rs886058784
|
0.00003
|
NM_198859.4(PRICKLE2):c.*4455A>G
|
rs746249344
|
0.00003
|
NM_198859.4(PRICKLE2):c.-271A>G
|
rs886058802
|
0.00003
|
NM_198859.4(PRICKLE2):c.-363G>A
|
rs569115082
|
0.00003
|
NM_198859.4(PRICKLE2):c.1048C>T (p.Pro350Ser)
|
rs771168722
|
0.00003
|
NM_198859.4(PRICKLE2):c.1535G>A (p.Gly512Asp)
|
rs772691573
|
0.00003
|
NM_000100.3(CSTB):c.-43C>G
|
rs886057113
|
0.00002
|
NM_000100.4(CSTB):c.202C>T (p.Arg68Ter)
|
rs74315442
|
0.00002
|
NM_004287.5(GOSR2):c.*1277C>G
|
rs577505377
|
0.00002
|
NM_004287.5(GOSR2):c.*2195C>A
|
rs565638240
|
0.00002
|
NM_198859.4(PRICKLE2):c.*1114C>T
|
rs752334583
|
0.00002
|
NM_198859.4(PRICKLE2):c.*1633G>A
|
rs1405669224
|
0.00002
|
NM_198859.4(PRICKLE2):c.*2269T>C
|
rs550841859
|
0.00002
|
NM_198859.4(PRICKLE2):c.*3178G>C
|
rs528929996
|
0.00002
|
NM_198859.4(PRICKLE2):c.*3540C>T
|
rs977486642
|
0.00002
|
NM_198859.4(PRICKLE2):c.*4531T>C
|
rs1404217716
|
0.00002
|
NM_198859.4(PRICKLE2):c.-371C>T
|
rs886058805
|
0.00002
|
NM_198859.4(PRICKLE2):c.-559A>G
|
rs550234814
|
0.00002
|
NM_198859.4(PRICKLE2):c.123G>A (p.Pro41=)
|
rs727504106
|
0.00002
|
NM_198859.4(PRICKLE2):c.1561C>T (p.Arg521Cys)
|
rs749232741
|
0.00002
|
NM_198859.4(PRICKLE2):c.1590A>G (p.Thr530=)
|
rs886058800
|
0.00002
|
NM_000100.3(CSTB):c.-55G>A
|
rs533879406
|
0.00001
|
NM_000100.4(CSTB):c.169-14C>T
|
rs757593576
|
0.00001
|
NM_000100.4(CSTB):c.169G>T (p.Val57Leu)
|
rs796052394
|
0.00001
|
NM_004287.5(GOSR2):c.*2213G>T
|
rs886053084
|
0.00001
|
NM_004287.5(GOSR2):c.*2589T>C
|
rs886053087
|
0.00001
|
NM_004287.5(GOSR2):c.541C>G (p.Leu181Val)
|
rs772342696
|
0.00001
|
NM_198859.4(PRICKLE2):c.*1292A>G
|
rs934193331
|
0.00001
|
NM_198859.4(PRICKLE2):c.*1495T>C
|
rs879297640
|
0.00001
|
NM_198859.4(PRICKLE2):c.*2089C>T
|
rs577636282
|
0.00001
|
NM_198859.4(PRICKLE2):c.*4071A>G
|
rs886058785
|
0.00001
|
NM_198859.4(PRICKLE2):c.*4196T>G
|
rs1389084658
|
0.00001
|
NM_198859.4(PRICKLE2):c.*4330A>T
|
rs538069337
|
0.00001
|
NM_198859.4(PRICKLE2):c.*943G>T
|
rs953505615
|
0.00001
|
NM_198859.4(PRICKLE2):c.-13C>G
|
rs750990245
|
0.00001
|
NM_198859.4(PRICKLE2):c.1169G>A (p.Arg390Gln)
|
rs773493989
|
0.00001
|
NM_198859.4(PRICKLE2):c.1334A>C (p.His445Pro)
|
rs1162884450
|
0.00001
|
NM_198859.4(PRICKLE2):c.2092G>A (p.Ala698Thr)
|
rs763974341
|
0.00001
|
NM_198859.4(PRICKLE2):c.2213A>G (p.His738Arg)
|
rs766757910
|
0.00001
|
NM_198859.4(PRICKLE2):c.490G>T (p.Val164Phe)
|
rs886058801
|
0.00001
|
NM_198859.4(PRICKLE2):c.636G>A (p.Gly212=)
|
rs567814417
|
0.00001
|
NM_000100.3(CSTB):c.*287G>A
|
rs768173714
|
|
NM_000100.3(CSTB):c.*325A>G
|
rs28691645
|
|
NM_000100.4(CSTB):c.*227A>G
|
rs886057112
|
|
NM_000100.4(CSTB):c.193G>A (p.Val65Ile)
|
rs570768038
|
|
NM_004287.4(GOSR2):c.-64G>T
|
rs886053076
|
|
NM_004287.5(GOSR2):c.*1105A>T
|
rs780111337
|
|
NM_004287.5(GOSR2):c.*1711G>A
|
rs11657819
|
|
NM_004287.5(GOSR2):c.*2068C>G
|
rs886053082
|
|
NM_004287.5(GOSR2):c.*2190TC[2]
|
rs553512648
|
|
NM_004287.5(GOSR2):c.*2573G>A
|
rs886053086
|
|
NM_004287.5(GOSR2):c.*286G>T
|
rs78693564
|
|
NM_004287.5(GOSR2):c.*288_*296dup
|
rs376212419
|
|
NM_004287.5(GOSR2):c.*332A>G
|
rs886053079
|
|
NM_004287.5(GOSR2):c.*412C>A
|
rs886053080
|
|
NM_004287.5(GOSR2):c.*804A>G
|
rs886053081
|
|
NM_004287.5(GOSR2):c.-12G>C
|
rs183199
|
|
NM_004287.5(GOSR2):c.-20T>G
|
rs886053077
|
|
NM_004287.5(GOSR2):c.-30G>C
|
rs189899
|
|
NM_004287.5(GOSR2):c.-7C>G
|
rs760018200
|
|
NM_004287.5(GOSR2):c.363C>T (p.Asp121=)
|
rs886053078
|
|
NM_004287.5(GOSR2):c.7C>A (p.Pro3Thr)
|
rs12944167
|
|
NM_153026.3(PRICKLE1):c.*142G>A
|
rs886049374
|
|
NM_153026.3(PRICKLE1):c.*552del
|
rs68074167
|
|
NM_153026.3(PRICKLE1):c.-122CGCAGCCC[3]
|
rs561368128
|
|
NM_153033.4(KCTD7):c.*3935_*3937CAA[1]
|
rs35961913
|
|
NM_153033.5(KCTD7):c.*2223_*2226dup
|
rs886062422
|
|
NM_153033.5(KCTD7):c.*860CCT[1]
|
rs886062416
|
|
NM_198859.4(PRICKLE2):c.*1157G>C
|
rs764784009
|
|
NM_198859.4(PRICKLE2):c.*1274C>T
|
rs952345194
|
|
NM_198859.4(PRICKLE2):c.*1476A>G
|
rs886058793
|
|
NM_198859.4(PRICKLE2):c.*1508A>G
|
rs2076588182
|
|
NM_198859.4(PRICKLE2):c.*1560C>T
|
rs886058792
|
|
NM_198859.4(PRICKLE2):c.*1621A>G
|
rs2076586727
|
|
NM_198859.4(PRICKLE2):c.*1647T>A
|
rs2076586208
|
|
NM_198859.4(PRICKLE2):c.*1682C>T
|
rs938048041
|
|
NM_198859.4(PRICKLE2):c.*1964C>T
|
rs886058790
|
|
NM_198859.4(PRICKLE2):c.*1970T>C
|
rs886058789
|
|
NM_198859.4(PRICKLE2):c.*2102G>A
|
rs2076579772
|
|
NM_198859.4(PRICKLE2):c.*2207C>T
|
rs886058788
|
|
NM_198859.4(PRICKLE2):c.*2288C>T
|
rs866060288
|
|
NM_198859.4(PRICKLE2):c.*2288_*2296delinsT
|
rs386661734
|
|
NM_198859.4(PRICKLE2):c.*2391C>T
|
rs184544359
|
|
NM_198859.4(PRICKLE2):c.*2666G>T
|
rs2076573078
|
|
NM_198859.4(PRICKLE2):c.*2782C>G
|
rs530804190
|
|
NM_198859.4(PRICKLE2):c.*2856C>G
|
rs886058787
|
|
NM_198859.4(PRICKLE2):c.*2980_*2981dup
|
rs759645403
|
|
NM_198859.4(PRICKLE2):c.*3065C>A
|
rs1345198796
|
|
NM_198859.4(PRICKLE2):c.*3343G>A
|
rs911667034
|
|
NM_198859.4(PRICKLE2):c.*3358T>A
|
rs2076562693
|
|
NM_198859.4(PRICKLE2):c.*3496G>A
|
rs2076560882
|
|
NM_198859.4(PRICKLE2):c.*3501C>G
|
rs1358772449
|
|
NM_198859.4(PRICKLE2):c.*3755A>T
|
rs756531877
|
|
NM_198859.4(PRICKLE2):c.*3862C>A
|
rs886058786
|
|
NM_198859.4(PRICKLE2):c.*4182T>C
|
rs2076548758
|
|
NM_198859.4(PRICKLE2):c.*4238C>T
|
rs14056
|
|
NM_198859.4(PRICKLE2):c.*4257T>C
|
rs886058783
|
|
NM_198859.4(PRICKLE2):c.*4595T>A
|
rs886058782
|
|
NM_198859.4(PRICKLE2):c.*4787T>C
|
rs886058781
|
|
NM_198859.4(PRICKLE2):c.*4861dup
|
rs571451772
|
|
NM_198859.4(PRICKLE2):c.*4877C>T
|
rs750274826
|
|
NM_198859.4(PRICKLE2):c.*579del
|
rs35195442
|
|
NM_198859.4(PRICKLE2):c.*580del
|
rs370988517
|
|
NM_198859.4(PRICKLE2):c.*581dup
|
rs886058797
|
|
NM_198859.4(PRICKLE2):c.*582A>T
|
rs886058796
|
|
NM_198859.4(PRICKLE2):c.*584del
|
rs886058795
|
|
NM_198859.4(PRICKLE2):c.*792dup
|
rs535354956
|
|
NM_198859.4(PRICKLE2):c.*995C>A
|
rs886058794
|
|
NM_198859.4(PRICKLE2):c.-219A>G
|
rs2079012814
|
|
NM_198859.4(PRICKLE2):c.-287A>G
|
rs867607794
|
|
NM_198859.4(PRICKLE2):c.-320A>C
|
rs886058804
|
|
NM_198859.4(PRICKLE2):c.-552G>C
|
rs2079017666
|
|
NM_198859.4(PRICKLE2):c.-573CCA[1]
|
rs886058807
|
|
NM_198859.4(PRICKLE2):c.-89G>C
|
rs901964486
|
|
NM_198859.4(PRICKLE2):c.1263G>T (p.Gln421His)
|
rs2077471398
|
|
NM_198859.4(PRICKLE2):c.1317C>T (p.Pro439=)
|
rs745530308
|
|
NM_198859.4(PRICKLE2):c.1675G>A (p.Gly559Ser)
|
rs886058799
|
|
NM_198859.4(PRICKLE2):c.1752T>A (p.Ser584=)
|
rs886058798
|
|
NM_198859.4(PRICKLE2):c.2100C>G (p.His700Gln)
|
rs2076619261
|
|
NM_198859.4(PRICKLE2):c.531A>G (p.Gln177=)
|
rs780089157
|
|