NM_006031.6(PCNT):c.8751+23dup
|
rs5844270
|
1.00000
|
NM_006031.6(PCNT):c.2609+211T>C
|
rs4819243
|
0.99288
|
NM_006031.6(PCNT):c.2154+116A>G
|
rs2839224
|
0.89893
|
NM_006031.6(PCNT):c.2111G>A (p.Gly704Glu)
|
rs2839223
|
0.88373
|
NM_006031.6(PCNT):c.2556T>C (p.Ala852=)
|
rs8131546
|
0.88316
|
NM_006031.6(PCNT):c.3113T>C (p.Val1038Ala)
|
rs6518289
|
0.87478
|
NM_006031.6(PCNT):c.2928C>G (p.Leu976=)
|
rs2839228
|
0.87375
|
NM_006031.6(PCNT):c.9700+138A>G
|
rs2839262
|
0.82849
|
NM_006031.6(PCNT):c.9624-222T>C
|
rs10854482
|
0.82001
|
NM_006031.6(PCNT):c.1937-183G>A
|
rs2839222
|
0.74041
|
NM_006031.6(PCNT):c.7494+143T>C
|
rs2073374
|
0.68934
|
NM_006031.6(PCNT):c.2610-5C>T
|
rs2839226
|
0.68609
|
NM_006031.6(PCNT):c.8375A>G (p.Gln2792Arg)
|
rs2073376
|
0.67500
|
NM_006031.6(PCNT):c.7914-16C>T
|
rs2839257
|
0.67468
|
NM_006031.6(PCNT):c.5116-260T>C
|
rs2839243
|
0.67362
|
NM_006031.6(PCNT):c.4217-226G>A
|
rs2186350
|
0.67325
|
NM_006031.6(PCNT):c.720+17T>C
|
rs9982233
|
0.67221
|
NM_006031.6(PCNT):c.720+110A>C
|
rs9979907
|
0.67075
|
NM_006031.6(PCNT):c.8996+322G>C
|
rs10600726
|
0.66171
|
NM_006031.6(PCNT):c.7977G>C (p.Gln2659His)
|
rs2070426
|
0.48521
|
NM_006031.6(PCNT):c.4962+91G>A
|
rs2839241
|
0.35834
|
NM_006031.6(PCNT):c.1345-287C>T
|
rs2839218
|
0.33572
|
NM_006031.6(PCNT):c.8996+45C>A
|
rs2236616
|
0.33111
|
NM_006031.6(PCNT):c.4584+129T>C
|
rs2073382
|
0.32646
|
NM_006031.6(PCNT):c.721-7G>A
|
rs2839217
|
0.32249
|
NM_006031.6(PCNT):c.4197C>T (p.Asp1399=)
|
rs3737438
|
0.32038
|
NM_006031.6(PCNT):c.1033-254T>G
|
rs1974172
|
0.31518
|
NM_006031.6(PCNT):c.3313-84C>G
|
rs2073378
|
0.31184
|
NM_006031.6(PCNT):c.4915A>G (p.Ile1639Val)
|
rs6518291
|
0.31129
|
NM_006031.6(PCNT):c.9273+22T>C
|
rs2051190
|
0.26843
|
NM_006031.6(PCNT):c.9393+102C>T
|
rs2073377
|
0.26811
|
NM_006031.6(PCNT):c.9967+89G>C
|
rs2073381
|
0.26796
|
NM_006031.6(PCNT):c.9967+79C>T
|
rs2249970
|
0.26789
|
NM_006031.6(PCNT):c.9624-190C>T
|
rs2839261
|
0.26786
|
NM_006031.6(PCNT):c.2635A>G (p.Thr879Ala)
|
rs2839227
|
0.26258
|
NM_006031.6(PCNT):c.1207+34A>T
|
rs35210219
|
0.25479
|
NM_006031.6(PCNT):c.6821C>T (p.Pro2274Leu)
|
rs2070425
|
0.24579
|
NM_006031.6(PCNT):c.5522A>G (p.Asn1841Ser)
|
rs35940413
|
0.22440
|
NM_006031.6(PCNT):c.6150+150A>C
|
rs4577375
|
0.21155
|
NM_006031.6(PCNT):c.6715T>C (p.Trp2239Arg)
|
rs35346764
|
0.18919
|
NM_006031.6(PCNT):c.7913+9G>C
|
rs1023160
|
0.18804
|
NM_006031.6(PCNT):c.5322G>A (p.Glu1774=)
|
rs58559714
|
0.18798
|
NM_006031.6(PCNT):c.5995-157C>T
|
rs8126647
|
0.18753
|
NM_006031.6(PCNT):c.5994+38T>C
|
rs73907502
|
0.18733
|
NM_006031.6(PCNT):c.5994+48T>G
|
rs73379348
|
0.18721
|
NM_006031.6(PCNT):c.5994+231C>T
|
rs73909505
|
0.18704
|
NM_006031.6(PCNT):c.6921+98A>G
|
rs13340001
|
0.18699
|
NM_006031.6(PCNT):c.6563T>G (p.Met2188Arg)
|
rs1044998
|
0.18680
|
NM_006031.6(PCNT):c.6921+218A>G
|
rs13340002
|
0.18663
|
NM_006031.6(PCNT):c.7024+201T>C
|
rs60124276
|
0.18658
|
NM_006031.6(PCNT):c.7082A>G (p.Gln2361Arg)
|
rs7277175
|
0.18653
|
NM_006031.6(PCNT):c.6927A>G (p.Lys2309=)
|
rs2839246
|
0.18636
|
NM_006031.6(PCNT):c.6290T>C (p.Leu2097Pro)
|
rs2839245
|
0.18635
|
NM_006031.6(PCNT):c.6151-103_6151-102insCT
|
rs3058055
|
0.18626
|
NM_006031.6(PCNT):c.6384A>G (p.Thr2128=)
|
rs60444527
|
0.18604
|
NM_006031.6(PCNT):c.7645G>A (p.Ala2549Thr)
|
rs2839256
|
0.18603
|
NM_006031.6(PCNT):c.6374A>C (p.His2125Pro)
|
rs35978208
|
0.18595
|
NM_006031.6(PCNT):c.7913+40C>T
|
rs1023161
|
0.18569
|
NM_006031.6(PCNT):c.7690+50G>A
|
rs60356719
|
0.18563
|
NM_006031.6(PCNT):c.7494+48G>A
|
rs55937012
|
0.18558
|
NM_006031.6(PCNT):c.9840-151G>A
|
rs743347
|
0.18415
|
NM_006031.6(PCNT):c.7179+298C>T
|
rs60495355
|
0.18407
|
NM_006031.6(PCNT):c.7320+51T>C
|
rs2330435
|
0.18290
|
NM_006031.6(PCNT):c.5631C>T (p.Ile1877=)
|
rs16979162
|
0.18249
|
NM_006031.6(PCNT):c.7320+57T>C
|
rs2330436
|
0.18215
|
NM_006031.6(PCNT):c.9735A>C (p.Arg3245Ser)
|
rs2073380
|
0.17969
|
NM_006031.6(PCNT):c.4963-212G>T
|
rs56077060
|
0.17947
|
NM_006031.6(PCNT):c.9274-58dup
|
rs78656506
|
0.17799
|
NM_006031.6(PCNT):c.5115+147C>T
|
rs8129460
|
0.17730
|
NM_006031.6(PCNT):c.9394-4T>C
|
rs2839260
|
0.14350
|
NM_006031.6(PCNT):c.6594T>C (p.Gly2198=)
|
rs57108405
|
0.13713
|
NM_006031.6(PCNT):c.7024+223C>T
|
rs58572600
|
0.13685
|
NM_006031.6(PCNT):c.1762-243C>T
|
rs2839221
|
0.13639
|
NM_006031.6(PCNT):c.2415C>G (p.Ala805=)
|
rs61407822
|
0.13635
|
NM_006031.6(PCNT):c.639+181C>A
|
rs2839214
|
0.13010
|
NM_006031.6(PCNT):c.640-38T>G
|
rs2839216
|
0.12924
|
NM_006031.6(PCNT):c.7180-306C>T
|
rs8129476
|
0.12905
|
NM_006031.6(PCNT):c.7494+137C>A
|
rs60091558
|
0.12886
|
NM_006031.6(PCNT):c.1616C>T (p.Thr539Ile)
|
rs2249060
|
0.12572
|
NM_006031.6(PCNT):c.976+96G>A
|
rs9981892
|
0.12563
|
NM_006031.6(PCNT):c.3166-105G>A
|
rs34950974
|
0.12346
|
NM_006031.6(PCNT):c.3487C>T (p.Arg1163Cys)
|
rs7279204
|
0.11770
|
NM_006031.6(PCNT):c.3465-40C>T
|
rs7279052
|
0.11767
|
NM_006031.6(PCNT):c.4962+269A>G
|
rs4818840
|
0.11589
|
NM_006031.6(PCNT):c.6150+141A>G
|
rs4577374
|
0.11562
|
NM_006031.6(PCNT):c.4791+276A>G
|
rs2839240
|
0.11519
|
NM_006031.6(PCNT):c.977-76G>C
|
rs75756987
|
0.11439
|
NM_006031.6(PCNT):c.8811A>G (p.Thr2937=)
|
rs17371795
|
0.11349
|
NM_006031.6(PCNT):c.7025-192C>T
|
rs2839251
|
0.11334
|
NM_006031.6(PCNT):c.8418G>A (p.Ala2806=)
|
rs9983522
|
0.11315
|
NM_006031.6(PCNT):c.7025-287G>A
|
rs13053115
|
0.11286
|
NM_006031.6(PCNT):c.1680-234A>T
|
rs6518288
|
0.10264
|
NM_006031.6(PCNT):c.1937-161G>A
|
rs11700399
|
0.08703
|
NM_006031.6(PCNT):c.3312+159A>G
|
rs76874771
|
0.08182
|
NM_006031.6(PCNT):c.3312+166G>A
|
rs77643189
|
0.08108
|
NM_006031.6(PCNT):c.6150+147C>T
|
rs4516528
|
0.07964
|
NM_006031.6(PCNT):c.7913+32C>T
|
rs57385578
|
0.06573
|
NM_006031.6(PCNT):c.5535G>A (p.Arg1845=)
|
rs61735543
|
0.06211
|
NM_006031.6(PCNT):c.7874G>A (p.Arg2625Gln)
|
rs8131693
|
0.05976
|
NM_006031.6(PCNT):c.6150+49C>T
|
rs112334245
|
0.05936
|
NM_006031.6(PCNT):c.5634C>T (p.Asp1878=)
|
rs61735811
|
0.05866
|
NM_006031.6(PCNT):c.8707G>A (p.Ala2903Thr)
|
rs35147998
|
0.05666
|
NM_006031.6(PCNT):c.3312+307G>A
|
rs143111553
|
0.05384
|
NM_006031.6(PCNT):c.5115+223A>C
|
rs11909415
|
0.05353
|
NM_006031.6(PCNT):c.6922-310C>A
|
rs57819744
|
0.05347
|
NM_006031.6(PCNT):c.711T>G (p.His237Gln)
|
rs34500739
|
0.05250
|
NM_006031.6(PCNT):c.1032+274C>A
|
rs11910459
|
0.05215
|
NM_006031.6(PCNT):c.4584+220C>T
|
rs7275694
|
0.05095
|
NM_006031.6(PCNT):c.4446+185G>A
|
rs73907494
|
0.05076
|
NM_006031.6(PCNT):c.1936+59G>A
|
rs73907210
|
0.05070
|
NM_006031.6(PCNT):c.5858G>A (p.Arg1953His)
|
rs34268261
|
0.05068
|
NM_006031.6(PCNT):c.8258G>A (p.Arg2753His)
|
rs743346
|
0.04982
|
NM_006031.6(PCNT):c.7025-93G>A
|
rs111962882
|
0.04952
|
NM_006031.6(PCNT):c.7536G>A (p.Pro2512=)
|
rs61735818
|
0.04944
|
NM_006031.6(PCNT):c.7074T>C (p.Pro2358=)
|
rs61735815
|
0.04931
|
NM_006031.6(PCNT):c.8065-268A>G
|
rs79203677
|
0.04928
|
NM_006031.6(PCNT):c.9700+168C>T
|
rs17372047
|
0.04914
|
NM_006031.6(PCNT):c.5116-219C>T
|
rs78740931
|
0.04888
|
NM_006031.6(PCNT):c.1937-44G>A
|
rs17297961
|
0.04884
|
NM_006031.6(PCNT):c.1207+196C>G
|
rs17369792
|
0.04881
|
NM_006031.6(PCNT):c.1761+57T>C
|
rs117007201
|
0.04867
|
NM_006031.6(PCNT):c.1032+56C>T
|
rs79850630
|
0.04860
|
NM_006031.6(PCNT):c.4447-125G>A
|
rs111512103
|
0.04857
|
NM_006031.6(PCNT):c.977-192G>A
|
rs76934171
|
0.04851
|
NM_006031.6(PCNT):c.1679+220C>G
|
rs17297798
|
0.04849
|
NM_006031.6(PCNT):c.4217-152A>G
|
rs17298556
|
0.04849
|
NM_006031.6(PCNT):c.4446+155G>T
|
rs79407815
|
0.04848
|
NM_006031.6(PCNT):c.3464+188G>A
|
rs76321292
|
0.04847
|
NM_006031.6(PCNT):c.3312+311G>A
|
rs150850349
|
0.04687
|
NM_006031.6(PCNT):c.54+6C>T
|
rs80017051
|
0.04471
|
NM_006031.6(PCNT):c.1456+111A>G
|
rs2839219
|
0.04315
|
NM_006031.6(PCNT):c.7485C>T (p.Ile2495=)
|
rs61735817
|
0.04297
|
NM_006031.6(PCNT):c.7130C>T (p.Pro2377Leu)
|
rs61735814
|
0.04295
|
NM_006031.6(PCNT):c.9624-237G>C
|
rs75434240
|
0.04279
|
NM_006031.6(PCNT):c.1457-163G>A
|
rs74776962
|
0.04221
|
NM_006031.6(PCNT):c.6150+90A>C
|
rs111931506
|
0.04079
|
NM_006031.6(PCNT):c.7180-83G>A
|
rs78995522
|
0.03982
|
NM_006031.6(PCNT):c.520A>G (p.Ile174Val)
|
rs61735822
|
0.03881
|
NM_006031.6(PCNT):c.1680-232A>T
|
rs112283432
|
0.03674
|
NM_006031.6(PCNT):c.6918T>C (p.Ala2306=)
|
rs61738290
|
0.03522
|
NM_006031.6(PCNT):c.498A>G (p.Pro166=)
|
rs61735824
|
0.03505
|
NM_006031.6(PCNT):c.3580G>A (p.Ala1194Thr)
|
rs35044802
|
0.03488
|
NM_006031.6(PCNT):c.6571T>C (p.Ser2191Pro)
|
rs34151633
|
0.03401
|
NM_006031.6(PCNT):c.640-3110G>A
|
rs4818836
|
0.03242
|
NM_006031.6(PCNT):c.3339T>C (p.Ser1113=)
|
rs61735805
|
0.03082
|
NM_006031.6(PCNT):c.8988C>T (p.Ala2996=)
|
rs61735826
|
0.02642
|
NM_006031.6(PCNT):c.9271A>G (p.Ser3091Gly)
|
rs4818842
|
0.02525
|
NM_006031.6(PCNT):c.5879G>A (p.Arg1960Gln)
|
rs34813667
|
0.02167
|
NM_006031.6(PCNT):c.7867C>T (p.Leu2623=)
|
rs61735821
|
0.02105
|
NM_006031.6(PCNT):c.9014C>T (p.Thr3005Met)
|
rs60078675
|
0.02025
|
NM_006031.6(PCNT):c.721-200C>T
|
rs11911089
|
0.01576
|
NM_006031.6(PCNT):c.6739C>T (p.His2247Tyr)
|
rs61735812
|
0.01575
|
NM_006031.6(PCNT):c.1345-172C>T
|
rs58154505
|
0.01571
|
NM_006031.6(PCNT):c.7652C>T (p.Ala2551Val)
|
rs12481791
|
0.01548
|
NM_006031.6(PCNT):c.5742G>A (p.Ala1914=)
|
rs61735810
|
0.01545
|
NM_006031.6(PCNT):c.7800G>A (p.Ala2600=)
|
rs61735820
|
0.01494
|
NM_006031.6(PCNT):c.4962+10G>A
|
rs114474454
|
0.01225
|
NM_006031.6(PCNT):c.9015G>A (p.Thr3005=)
|
rs79359463
|
0.00973
|
NM_006031.6(PCNT):c.6616A>G (p.Thr2206Ala)
|
rs9981448
|
0.00833
|
NM_006031.6(PCNT):c.3615G>A (p.Ala1205=)
|
rs61735806
|
0.00816
|
NM_006031.6(PCNT):c.4572G>A (p.Pro1524=)
|
rs116431741
|
0.00812
|
NM_006031.6(PCNT):c.4910C>T (p.Pro1637Leu)
|
rs34849154
|
0.00771
|
NM_006031.6(PCNT):c.7159G>A (p.Val2387Met)
|
rs75024419
|
0.00771
|
NM_006031.6(PCNT):c.7353G>A (p.Gly2451=)
|
rs61735816
|
0.00767
|
NM_006031.6(PCNT):c.7914-4G>A
|
rs76287849
|
0.00764
|
NM_006031.6(PCNT):c.7404G>C (p.Gln2468His)
|
rs77075366
|
0.00759
|
NM_006031.6(PCNT):c.8065-19G>A
|
rs78561636
|
0.00750
|
NM_006031.6(PCNT):c.8671G>A (p.Ala2891Thr)
|
rs33956783
|
0.00733
|
NM_006031.6(PCNT):c.2575G>A (p.Asp859Asn)
|
rs115369710
|
0.00703
|
NM_006031.6(PCNT):c.7398G>A (p.Glu2466=)
|
rs114739559
|
0.00679
|
NM_006031.6(PCNT):c.7914-5C>T
|
rs114120845
|
0.00679
|
NM_006031.6(PCNT):c.8924T>C (p.Leu2975Pro)
|
rs35881595
|
0.00647
|
NM_006031.6(PCNT):c.7656C>T (p.Arg2552=)
|
rs61735819
|
0.00644
|
NM_006031.6(PCNT):c.6986C>G (p.Pro2329Arg)
|
rs35848602
|
0.00640
|
NM_006031.6(PCNT):c.5771C>T (p.Ala1924Val)
|
rs184420466
|
0.00604
|
NM_006031.6(PCNT):c.8646G>C (p.Leu2882Phe)
|
rs141771795
|
0.00596
|
NM_006031.6(PCNT):c.5954C>T (p.Ser1985Phe)
|
rs140398533
|
0.00585
|
NM_006031.6(PCNT):c.8752-5A>C
|
rs149444205
|
0.00573
|
NM_006031.6(PCNT):c.6634C>T (p.Arg2212Trp)
|
rs144471022
|
0.00516
|
NM_006031.6(PCNT):c.9099+12G>A
|
rs140828051
|
0.00457
|
NM_006031.6(PCNT):c.4285C>T (p.Arg1429Cys)
|
rs62224222
|
0.00437
|
NM_006031.6(PCNT):c.9623+8C>T
|
rs75758339
|
0.00388
|
NM_006031.6(PCNT):c.4345C>G (p.Gln1449Glu)
|
rs139432601
|
0.00379
|
NM_006031.6(PCNT):c.7040T>C (p.Phe2347Ser)
|
rs150704986
|
0.00341
|
NM_006031.6(PCNT):c.9720G>A (p.Pro3240=)
|
rs141991283
|
0.00331
|
NM_006031.6(PCNT):c.6933C>T (p.Val2311=)
|
rs148444313
|
0.00289
|
NM_006031.6(PCNT):c.1784C>T (p.Ala595Val)
|
rs143028464
|
0.00265
|
NM_006031.6(PCNT):c.9274-3C>T
|
rs200348425
|
0.00242
|
NM_006031.6(PCNT):c.7495-13A>G
|
rs114588443
|
0.00240
|
NM_006031.6(PCNT):c.8224G>C (p.Glu2742Gln)
|
rs35557109
|
0.00238
|
NM_006031.6(PCNT):c.8065-18dup
|
rs557093717
|
0.00227
|
NM_006031.6(PCNT):c.4142C>T (p.Ala1381Val)
|
rs114383833
|
0.00221
|
NM_006031.6(PCNT):c.9291T>C (p.Ala3097=)
|
rs150554265
|
0.00209
|
NM_006031.6(PCNT):c.9700+10C>T
|
rs199917135
|
0.00195
|
NM_006031.6(PCNT):c.5710G>A (p.Ala1904Thr)
|
rs200426591
|
0.00188
|
NM_006031.6(PCNT):c.7281C>T (p.Asp2427=)
|
rs138588682
|
0.00186
|
NM_006031.6(PCNT):c.5614G>A (p.Glu1872Lys)
|
rs112853262
|
0.00182
|
NM_006031.6(PCNT):c.6080A>G (p.Gln2027Arg)
|
rs147189224
|
0.00157
|
NM_006031.6(PCNT):c.6125G>A (p.Arg2042His)
|
rs149264703
|
0.00151
|
NM_006031.6(PCNT):c.4354G>A (p.Gly1452Arg)
|
rs143796569
|
0.00149
|
NM_006031.6(PCNT):c.9949T>C (p.Leu3317=)
|
rs111389121
|
0.00148
|
NM_006031.6(PCNT):c.467A>G (p.His156Arg)
|
rs61735825
|
0.00146
|
NM_006031.6(PCNT):c.5199G>A (p.Lys1733=)
|
rs61735808
|
0.00127
|
NM_006031.6(PCNT):c.6957T>G (p.Phe2319Leu)
|
rs61735813
|
0.00115
|
NM_006031.6(PCNT):c.7180-8C>T
|
rs143511166
|
0.00108
|
NM_006031.6(PCNT):c.4139C>T (p.Ala1380Val)
|
rs201139850
|
0.00085
|
NM_006031.6(PCNT):c.5815C>T (p.Arg1939Trp)
|
rs575313866
|
0.00060
|
NM_006031.6(PCNT):c.6579G>A (p.Pro2193=)
|
rs150756913
|
0.00051
|
NM_006031.6(PCNT):c.904G>A (p.Glu302Lys)
|
rs186701249
|
0.00047
|
NM_006031.6(PCNT):c.979G>C (p.Glu327Gln)
|
rs575720246
|
0.00045
|
NM_006031.6(PCNT):c.4563+11G>A
|
rs370423096
|
0.00043
|
NM_006031.6(PCNT):c.6761G>A (p.Cys2254Tyr)
|
rs141635334
|
0.00041
|
NM_006031.6(PCNT):c.506G>A (p.Arg169His)
|
rs61735823
|
0.00032
|
NM_006031.6(PCNT):c.7118G>A (p.Gly2373Glu)
|
rs147670568
|
0.00032
|
NM_006031.6(PCNT):c.4584+3G>A
|
rs201042435
|
0.00029
|
NM_006031.6(PCNT):c.4584+9G>T
|
rs202096874
|
0.00029
|
NM_006031.6(PCNT):c.9967+18C>T
|
rs369414311
|
0.00029
|
NM_006031.6(PCNT):c.8172C>T (p.Ile2724=)
|
rs146717642
|
0.00022
|
NM_006031.6(PCNT):c.2566G>A (p.Val856Met)
|
rs143023746
|
0.00020
|
NM_006031.6(PCNT):c.6277G>A (p.Asp2093Asn)
|
rs200303861
|
0.00020
|
NM_006031.6(PCNT):c.1040A>G (p.Lys347Arg)
|
rs80166001
|
0.00017
|
NM_006031.6(PCNT):c.7459C>G (p.Leu2487Val)
|
rs201185279
|
0.00014
|
NM_006031.6(PCNT):c.5826G>A (p.Arg1942=)
|
rs536281306
|
0.00012
|
NM_006031.6(PCNT):c.7413G>A (p.Glu2471=)
|
rs191561981
|
0.00012
|
NM_006031.6(PCNT):c.1936+8C>T
|
rs200759036
|
0.00011
|
NM_006031.6(PCNT):c.2784C>T (p.Gly928=)
|
rs201809134
|
0.00010
|
NM_006031.6(PCNT):c.1155A>G (p.Ala385=)
|
rs201944549
|
0.00009
|
NM_006031.6(PCNT):c.3403C>A (p.Arg1135=)
|
rs143490174
|
0.00009
|
NM_006031.6(PCNT):c.6822G>A (p.Pro2274=)
|
rs375741970
|
0.00009
|
NM_006031.6(PCNT):c.8895G>A (p.Ala2965=)
|
rs572222540
|
0.00008
|
NM_006031.6(PCNT):c.1236T>C (p.His412=)
|
rs769637090
|
0.00007
|
NM_006031.6(PCNT):c.5724G>A (p.Gln1908=)
|
rs199519762
|
0.00006
|
NM_006031.6(PCNT):c.5743G>A (p.Ala1915Thr)
|
rs550245456
|
0.00006
|
NM_006031.6(PCNT):c.9279G>A (p.Ser3093=)
|
rs199596313
|
0.00006
|
NM_006031.6(PCNT):c.6141C>T (p.Asp2047=)
|
rs144445891
|
0.00005
|
NM_006031.6(PCNT):c.2376A>C (p.Arg792=)
|
rs759858754
|
0.00004
|
NM_006031.6(PCNT):c.3108C>T (p.Thr1036=)
|
rs182694054
|
0.00004
|
NM_006031.6(PCNT):c.6261G>A (p.Gln2087=)
|
rs181127717
|
0.00004
|
NM_006031.6(PCNT):c.2865C>T (p.Ala955=)
|
rs540548340
|
0.00002
|
NM_006031.6(PCNT):c.9174G>A (p.Ala3058=)
|
rs554275370
|
0.00002
|
NM_006031.6(PCNT):c.3390G>A (p.Arg1130=)
|
rs775858868
|
0.00001
|
NM_006031.6(PCNT):c.4175G>A (p.Arg1392Gln)
|
rs587784304
|
0.00001
|
GRCh37/hg19 21q22.3(chr21:47801930-47810736)x0
|
|
|
GRCh37/hg19 21q22.3(chr21:47801930-47811272)x0
|
|
|
GRCh37/hg19 21q22.3(chr21:47818298-47851753)x3
|
|
|
GRCh37/hg19 21q22.3(chr21:47821583-47841941)x3
|
|
|
GRCh37/hg19 21q22.3(chr21:47821588-47860054)x3
|
|
|
GRCh37/hg19 21q22.3(chr21:47821619-47848503)x3
|
|
|
GRCh37/hg19 21q22.3(chr21:47822397-47848503)x3
|
|
|
GRCh37/hg19 21q22.3(chr21:47831217-47832881)x3
|
|
|
GRCh37/hg19 21q22.3(chr21:47848445-47856021)x1
|
|
|
GRCh37/hg19 21q22.3(chr21:47848445-47858248)x1
|
|
|
NM_006031.6(PCNT):c.1345-5del
|
|
|
NM_006031.6(PCNT):c.1438A>G (p.Ser480Gly)
|
|
|
NM_006031.6(PCNT):c.1542C>A (p.Ser514=)
|
rs2249057
|
|
NM_006031.6(PCNT):c.1542C>T (p.Ser514=)
|
rs2249057
|
|
NM_006031.6(PCNT):c.1680-226AG[3]
|
rs200721092
|
|
NM_006031.6(PCNT):c.1680-235GA[3]
|
rs1555954604
|
|
NM_006031.6(PCNT):c.1680-235_1680-234insTGTGAG
|
rs59894003
|
|
NM_006031.6(PCNT):c.1680-236_1680-233del
|
rs1324068807
|
|
NM_006031.6(PCNT):c.1680-238_1680-233del
|
rs745640943
|
|
NM_006031.6(PCNT):c.1680-242_1680-233del
|
rs372289946
|
|
NM_006031.6(PCNT):c.1680-271GT[15]
|
rs72175446
|
|
NM_006031.6(PCNT):c.1680-271GT[16]
|
rs72175446
|
|
NM_006031.6(PCNT):c.1680-271GT[17]
|
rs72175446
|
|
NM_006031.6(PCNT):c.1680-271GT[19]
|
rs72175446
|
|
NM_006031.6(PCNT):c.1680-271GT[22]
|
rs72175446
|
|
NM_006031.6(PCNT):c.1761+270=
|
rs35539251
|
|
NM_006031.6(PCNT):c.2108A>T (p.Tyr703Phe)
|
rs572444748
|
|
NM_006031.6(PCNT):c.2610-50T>A
|
rs9637173
|
|
NM_006031.6(PCNT):c.2610-50T>G
|
rs9637173
|
|
NM_006031.6(PCNT):c.3165+15C>A
|
|
|
NM_006031.6(PCNT):c.3165+187del
|
rs35676009
|
|
NM_006031.6(PCNT):c.3165+187dup
|
rs35676009
|
|
NM_006031.6(PCNT):c.3312+151A>G
|
rs78213973
|
|
NM_006031.6(PCNT):c.3312+160G>C
|
rs75351856
|
|
NM_006031.6(PCNT):c.3312+171G>A
|
rs79769247
|
|
NM_006031.6(PCNT):c.3312+226_3312+232del
|
rs1342651494
|
|
NM_006031.6(PCNT):c.350G>C (p.Cys117Ser)
|
|
|
NM_006031.6(PCNT):c.3841-103_3841-101dup
|
rs3831446
|
|
NM_006031.6(PCNT):c.4447-254_4447-244dup
|
rs57503743
|
|
NM_006031.6(PCNT):c.4571C>G (p.Pro1524Arg)
|
rs35513449
|
|
NM_006031.6(PCNT):c.4585-230T>G
|
rs74788394
|
|
NM_006031.6(PCNT):c.4585-284T>G
|
rs73907495
|
|
NM_006031.6(PCNT):c.467_505del (p.His156_Gln168del)
|
rs587784306
|
|
NM_006031.6(PCNT):c.467_505dup (p.His156_Gln168dup)
|
rs587784306
|
|
NM_006031.6(PCNT):c.4792-215C>T
|
rs11701999
|
|
NM_006031.6(PCNT):c.4792-6del
|
rs575429540
|
|
NM_006031.6(PCNT):c.4792-6dup
|
rs575429540
|
|
NM_006031.6(PCNT):c.4963-180dup
|
rs11417856
|
|
NM_006031.6(PCNT):c.4963-190dup
|
rs11391105
|
|
NM_006031.6(PCNT):c.513_590del (p.Met171_Gly196del)
|
rs1569163245
|
|
NM_006031.6(PCNT):c.5253C>G (p.His1751Gln)
|
rs114799541
|
|
NM_006031.6(PCNT):c.5982C>G (p.Val1994=)
|
rs552463011
|
|
NM_006031.6(PCNT):c.5994+13dup
|
rs772752236
|
|
NM_006031.6(PCNT):c.5994+59G>A
|
rs73909504
|
|
NM_006031.6(PCNT):c.6150+109C>T
|
rs61544820
|
|
NM_006031.6(PCNT):c.6150+11G>C
|
rs10222116
|
|
NM_006031.6(PCNT):c.6150+15del
|
rs149690097
|
|
NM_006031.6(PCNT):c.6150+309A>G
|
rs4577376
|
|
NM_006031.6(PCNT):c.640-8T>G
|
rs587784314
|
|
NM_006031.6(PCNT):c.6729C>T (p.Pro2243=)
|
|
|
NM_006031.6(PCNT):c.6922-5_6922-4insTCTGA
|
rs59957960
|
|
NM_006031.6(PCNT):c.7025-17C>A
|
|
|
NM_006031.6(PCNT):c.7025-3del
|
|
|
NM_006031.6(PCNT):c.7179+16del
|
|
|
NM_006031.6(PCNT):c.7179+308_7179+324dup
|
rs58502414
|
|
NM_006031.6(PCNT):c.7180-17G>T
|
|
|
NM_006031.6(PCNT):c.721-13T>G
|
rs748762743
|
|
NM_006031.6(PCNT):c.7320+106_7320+107insCTT
|
rs199593779
|
|
NM_006031.6(PCNT):c.7320+106_7320+107insCTTT
|
rs1281325072
|
|
NM_006031.6(PCNT):c.7320+116_7320+125del
|
rs760416456
|
|
NM_006031.6(PCNT):c.7320+124_7320+125del
|
rs760416456
|
|
NM_006031.6(PCNT):c.7320+125dup
|
rs760416456
|
|
NM_006031.6(PCNT):c.7320+130_7320+131insAGAGTCTCGCTGTCTCTACCAGGCTGGAGTGCAGTGGCACAATC
|
rs1555996907
|
|
NM_006031.6(PCNT):c.7320+9del
|
|
|
NM_006031.6(PCNT):c.8064+245dup
|
rs560879641
|
|
NM_006031.6(PCNT):c.8064+84del
|
rs11285369
|
|
NM_006031.6(PCNT):c.8707G>C (p.Ala2903Pro)
|
rs35147998
|
|
NM_006031.6(PCNT):c.8751+17G>A
|
|
|
NM_006031.6(PCNT):c.8751+20G>A
|
|
|
NM_006031.6(PCNT):c.8751+98C>T
|
rs7283044
|
|
NM_006031.6(PCNT):c.8752-14del
|
|
|
NM_006031.6(PCNT):c.8752-14dup
|
|
|
NM_006031.6(PCNT):c.8752-308G>A
|
rs60407402
|
|
NM_006031.6(PCNT):c.8753G>A (p.Arg2918Gln)
|
|
|
NM_006031.6(PCNT):c.8830_8832del (p.Lys2944del)
|
rs562568796
|
|
NM_006031.6(PCNT):c.8889G>A (p.Ser2963=)
|
rs151325202
|
|
NM_006031.6(PCNT):c.8997-222G>A
|
rs35418111
|
|
NM_006031.6(PCNT):c.9099+249_9099+297del
|
rs879348635
|
|
NM_006031.6(PCNT):c.9100-13del
|
|
|
NM_006031.6(PCNT):c.9394-3T>C
|
rs545618955
|
|
NM_006031.6(PCNT):c.9564C>T (p.Ile3188=)
|
rs201798996
|
|
NM_006031.6(PCNT):c.9624-5dup
|
|
|
NM_006031.6(PCNT):c.9624-6_9624-5del
|
|
|
NM_006031.6(PCNT):c.9701-201C>G
|
rs2839263
|
|
NM_006031.6(PCNT):c.9840-30del
|
rs3058084
|
|
NM_006031.6(PCNT):c.9840-31_9840-30del
|
rs3058084
|
|
NM_006031.6(PCNT):c.9840-32_9840-30del
|
rs3058084
|
|
NM_006031.6(PCNT):c.9967+198C>A
|
rs77487457
|
|
NM_006031.6(PCNT):c.9968-223dup
|
rs147675714
|
|