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.4962+232C>T
|
rs149670973
|
0.03618
|
NM_006031.6(PCNT):c.6918T>C (p.Ala2306=)
|
rs61738290
|
0.03522
|
NM_006031.6(PCNT):c.720+32C>T
|
rs114224027
|
0.03510
|
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.3312+235T>C
|
rs555084386
|
0.03290
|
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.267+163G>A
|
rs78438362
|
0.01940
|
NM_006031.6(PCNT):c.4585-240A>G
|
rs113209749
|
0.01693
|
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.6150+154G>C
|
rs61501620
|
0.01252
|
NM_006031.6(PCNT):c.4962+10G>A
|
rs114474454
|
0.01225
|
NM_006031.6(PCNT):c.4791+60A>G
|
rs114466809
|
0.01183
|
NM_006031.6(PCNT):c.3841-83G>A
|
rs117669919
|
0.01176
|
NM_006031.6(PCNT):c.1937-66C>T
|
rs79886941
|
0.01101
|
NM_006031.6(PCNT):c.9839+137G>A
|
rs80055066
|
0.01087
|
NM_006031.6(PCNT):c.268-330T>C
|
rs140463648
|
0.01038
|
NM_006031.6(PCNT):c.9015G>A (p.Thr3005=)
|
rs79359463
|
0.00973
|
NM_006031.6(PCNT):c.268-323G>A
|
rs150396918
|
0.00897
|
NM_006031.6(PCNT):c.1680-236T>A
|
rs74436888
|
0.00882
|
NM_006031.6(PCNT):c.3165+81G>C
|
rs114378780
|
0.00873
|
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.7179+145C>T
|
rs28392898
|
0.00764
|
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.8997-213G>A
|
rs116074272
|
0.00754
|
NM_006031.6(PCNT):c.8065-19G>A
|
rs78561636
|
0.00750
|
NM_006031.6(PCNT):c.3464+307C>A
|
rs369695941
|
0.00736
|
NM_006031.6(PCNT):c.8671G>A (p.Ala2891Thr)
|
rs33956783
|
0.00733
|
NM_006031.6(PCNT):c.5994+280C>A
|
rs116679786
|
0.00729
|
NM_006031.6(PCNT):c.2575G>A (p.Asp859Asn)
|
rs115369710
|
0.00703
|
NM_006031.6(PCNT):c.9624-255C>T
|
rs140925430
|
0.00694
|
NM_006031.6(PCNT):c.1033-160C>G
|
rs111638784
|
0.00692
|
NM_006031.6(PCNT):c.6150+27T>C
|
rs112314119
|
0.00687
|
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.3608-31C>T
|
rs7279863
|
0.00676
|
NM_006031.6(PCNT):c.5995-170G>A
|
rs116982903
|
0.00672
|
NM_006031.6(PCNT):c.8924T>C (p.Leu2975Pro)
|
rs35881595
|
0.00647
|
NM_006031.6(PCNT):c.7321-66G>A
|
rs146272442
|
0.00645
|
NM_006031.6(PCNT):c.7656C>T (p.Arg2552=)
|
rs61735819
|
0.00644
|
NM_006031.6(PCNT):c.54+161C>T
|
rs564785017
|
0.00640
|
NM_006031.6(PCNT):c.6986C>G (p.Pro2329Arg)
|
rs35848602
|
0.00640
|
NM_006031.6(PCNT):c.9100-286C>T
|
rs149599958
|
0.00626
|
NM_006031.6(PCNT):c.4217-326T>C
|
rs141725675
|
0.00623
|
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.2610-268C>T
|
rs181545598
|
0.00580
|
NM_006031.6(PCNT):c.8752-5A>C
|
rs149444205
|
0.00573
|
NM_006031.6(PCNT):c.6922-84G>A
|
rs144548645
|
0.00570
|
NM_006031.6(PCNT):c.6634C>T (p.Arg2212Trp)
|
rs144471022
|
0.00516
|
NM_006031.6(PCNT):c.9624-207C>T
|
rs150228456
|
0.00514
|
NM_006031.6(PCNT):c.6150+21G>A
|
rs13052786
|
0.00468
|
NM_006031.6(PCNT):c.8752-301C>T
|
rs150669896
|
0.00461
|
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.9967+104T>G
|
rs140502945
|
0.00413
|
NM_006031.6(PCNT):c.977-218C>T
|
rs112527886
|
0.00401
|
NM_006031.6(PCNT):c.1680-147C>T
|
rs73907209
|
0.00398
|
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.2609+86G>A
|
rs114314706
|
0.00375
|
NM_006031.6(PCNT):c.9394-160T>A
|
rs577486720
|
0.00344
|
NM_006031.6(PCNT):c.7040T>C (p.Phe2347Ser)
|
rs150704986
|
0.00341
|
NM_006031.6(PCNT):c.3607+148C>T
|
rs115675095
|
0.00338
|
NM_006031.6(PCNT):c.3608-46G>A
|
rs181343887
|
0.00336
|
NM_006031.6(PCNT):c.1936+214G>A
|
rs377682309
|
0.00333
|
NM_006031.6(PCNT):c.5994+46C>G
|
rs189197561
|
0.00332
|
NM_006031.6(PCNT):c.9720G>A (p.Pro3240=)
|
rs141991283
|
0.00331
|
NM_006031.6(PCNT):c.3840+129T>C
|
rs76268945
|
0.00308
|
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.3748C>T (p.Arg1250Trp)
|
rs117987006
|
0.00257
|
NM_006031.6(PCNT):c.9707G>A (p.Arg3236Gln)
|
rs113591604
|
0.00249
|
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.9273+214C>T
|
rs117494675
|
0.00194
|
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.9273+152A>C
|
rs117919923
|
0.00185
|
NM_006031.6(PCNT):c.5614G>A (p.Glu1872Lys)
|
rs112853262
|
0.00182
|
NM_006031.6(PCNT):c.9247C>T (p.His3083Tyr)
|
rs143289533
|
0.00179
|
NM_006031.6(PCNT):c.1519C>G (p.Arg507Gly)
|
rs138036524
|
0.00165
|
NM_006031.6(PCNT):c.5872C>G (p.His1958Asp)
|
rs189308172
|
0.00163
|
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.724G>A (p.Val242Met)
|
rs147931950
|
0.00115
|
NM_006031.6(PCNT):c.7180-8C>T
|
rs143511166
|
0.00108
|
NM_006031.6(PCNT):c.7833C>T (p.Ser2611=)
|
rs139227909
|
0.00096
|
NM_006031.6(PCNT):c.3457A>G (p.Ser1153Gly)
|
rs140424584
|
0.00093
|
NM_006031.6(PCNT):c.2033A>G (p.Lys678Arg)
|
rs149623054
|
0.00088
|
NM_006031.6(PCNT):c.7803G>A (p.Ala2601=)
|
rs144869229
|
0.00086
|
NM_006031.6(PCNT):c.4139C>T (p.Ala1380Val)
|
rs201139850
|
0.00085
|
NM_006031.6(PCNT):c.3165+41T>A
|
rs137873393
|
0.00078
|
NM_006031.6(PCNT):c.5707C>T (p.Arg1903Cys)
|
rs548190846
|
0.00077
|
NM_006031.6(PCNT):c.1107T>C (p.His369=)
|
rs113731555
|
0.00076
|
NM_006031.6(PCNT):c.4844C>T (p.Thr1615Met)
|
rs139581644
|
0.00076
|
NM_006031.6(PCNT):c.4675A>T (p.Met1559Leu)
|
rs180775012
|
0.00074
|
NM_006031.6(PCNT):c.5708G>T (p.Arg1903Leu)
|
rs776232288
|
0.00074
|
NM_006031.6(PCNT):c.1761+14C>T
|
rs368329088
|
0.00073
|
NM_006031.6(PCNT):c.7309G>C (p.Gly2437Arg)
|
rs148384323
|
0.00073
|
NM_006031.6(PCNT):c.4140G>A (p.Ala1380=)
|
rs372175239
|
0.00068
|
NM_006031.6(PCNT):c.7332C>T (p.Thr2444=)
|
rs150882711
|
0.00066
|
NM_006031.6(PCNT):c.623G>A (p.Arg208His)
|
rs142318247
|
0.00065
|
NM_006031.6(PCNT):c.7655G>A (p.Arg2552His)
|
rs199589423
|
0.00063
|
NM_006031.6(PCNT):c.5815C>T (p.Arg1939Trp)
|
rs575313866
|
0.00060
|
NM_006031.6(PCNT):c.6151-9C>T
|
rs200571944
|
0.00059
|
NM_006031.6(PCNT):c.3549C>T (p.Ile1183=)
|
rs139383288
|
0.00058
|
NM_006031.6(PCNT):c.2866G>A (p.Asp956Asn)
|
rs146728385
|
0.00056
|
NM_006031.6(PCNT):c.8431G>T (p.Val2811Leu)
|
rs144757781
|
0.00055
|
NM_006031.6(PCNT):c.8702C>T (p.Pro2901Leu)
|
rs150615481
|
0.00054
|
NM_006031.6(PCNT):c.5855C>T (p.Ala1952Val)
|
rs370664761
|
0.00052
|
NM_006031.6(PCNT):c.6579G>A (p.Pro2193=)
|
rs150756913
|
0.00051
|
NM_006031.6(PCNT):c.2610-8T>C
|
rs377164652
|
0.00047
|
NM_006031.6(PCNT):c.904G>A (p.Glu302Lys)
|
rs186701249
|
0.00047
|
NM_006031.6(PCNT):c.9594G>A (p.Thr3198=)
|
rs143776463
|
0.00046
|
NM_006031.6(PCNT):c.979G>C (p.Glu327Gln)
|
rs575720246
|
0.00045
|
NM_006031.6(PCNT):c.9800G>A (p.Arg3267His)
|
rs200268000
|
0.00045
|
NM_006031.6(PCNT):c.2833C>T (p.Arg945Cys)
|
rs147358856
|
0.00043
|
NM_006031.6(PCNT):c.4563+11G>A
|
rs370423096
|
0.00043
|
NM_006031.6(PCNT):c.6072C>T (p.Thr2024=)
|
rs143671774
|
0.00043
|
NM_006031.6(PCNT):c.9968-3C>T
|
rs182378192
|
0.00043
|
NM_006031.6(PCNT):c.644G>A (p.Cys215Tyr)
|
rs138962786
|
0.00041
|
NM_006031.6(PCNT):c.6761G>A (p.Cys2254Tyr)
|
rs141635334
|
0.00041
|
NM_006031.6(PCNT):c.6093G>A (p.Gln2031=)
|
rs138543824
|
0.00040
|
NM_006031.6(PCNT):c.6792G>A (p.Ala2264=)
|
rs145376230
|
0.00040
|
NM_006031.6(PCNT):c.2264T>G (p.Met755Arg)
|
rs201827977
|
0.00039
|
NM_006031.6(PCNT):c.7335G>A (p.Ala2445=)
|
rs140044774
|
0.00039
|
NM_006031.6(PCNT):c.1761+13G>A
|
rs368579694
|
0.00038
|
NM_006031.6(PCNT):c.3581C>T (p.Ala1194Val)
|
rs138254119
|
0.00038
|
NM_006031.6(PCNT):c.7259C>T (p.Pro2420Leu)
|
rs144633170
|
0.00038
|
NM_006031.6(PCNT):c.8538G>A (p.Thr2846=)
|
rs146053975
|
0.00038
|
NM_006031.6(PCNT):c.8399G>A (p.Arg2800Gln)
|
rs146792192
|
0.00036
|
NM_006031.6(PCNT):c.3840+19G>C
|
rs377597505
|
0.00035
|
NM_006031.6(PCNT):c.9099+13C>T
|
rs376185703
|
0.00035
|
NM_006031.6(PCNT):c.5736C>T (p.Ala1912=)
|
rs766460016
|
0.00034
|
NM_006031.6(PCNT):c.5997T>C (p.Gly1999=)
|
rs146997824
|
0.00034
|
NM_006031.6(PCNT):c.4109G>A (p.Arg1370Gln)
|
rs145055342
|
0.00032
|
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.8672C>T (p.Ala2891Val)
|
rs144963695
|
0.00032
|
NM_006031.6(PCNT):c.2247A>C (p.Glu749Asp)
|
rs202246527
|
0.00031
|
NM_006031.6(PCNT):c.8835C>T (p.Asp2945=)
|
rs146875945
|
0.00031
|
NM_006031.6(PCNT):c.3647C>T (p.Pro1216Leu)
|
rs200670500
|
0.00030
|
NM_006031.6(PCNT):c.4222C>T (p.Arg1408Trp)
|
rs202161810
|
0.00029
|
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.4962+7G>A
|
rs369388260
|
0.00029
|
NM_006031.6(PCNT):c.6195T>G (p.Asp2065Glu)
|
rs148389745
|
0.00029
|
NM_006031.6(PCNT):c.9967+18C>T
|
rs369414311
|
0.00029
|
NM_006031.6(PCNT):c.2154G>A (p.Lys718=)
|
rs147878958
|
0.00028
|
NM_006031.6(PCNT):c.688C>T (p.Arg230Cys)
|
rs143560718
|
0.00028
|
NM_006031.6(PCNT):c.7224G>A (p.Ala2408=)
|
rs140912550
|
0.00028
|
NM_006031.6(PCNT):c.6645G>A (p.Pro2215=)
|
rs144342729
|
0.00027
|
NM_006031.6(PCNT):c.9099+14G>A
|
rs370266308
|
0.00027
|
NM_006031.6(PCNT):c.3853C>T (p.Arg1285Cys)
|
rs150564059
|
0.00026
|
NM_006031.6(PCNT):c.4564-15A>G
|
rs201627129
|
0.00026
|
NM_006031.6(PCNT):c.6150+30C>A
|
rs13046462
|
0.00026
|
NM_006031.6(PCNT):c.7993C>T (p.Leu2665=)
|
rs370099497
|
0.00026
|
NM_006031.6(PCNT):c.2439C>T (p.Ser813=)
|
rs144810300
|
0.00024
|
NM_006031.6(PCNT):c.5115+11A>G
|
rs371474470
|
0.00024
|
NM_006031.6(PCNT):c.7541G>A (p.Arg2514Gln)
|
rs370021414
|
0.00024
|
NM_006031.6(PCNT):c.9661C>T (p.Arg3221Trp)
|
rs141304187
|
0.00024
|
NM_006031.6(PCNT):c.5554A>G (p.Met1852Val)
|
rs142080697
|
0.00023
|
NM_006031.6(PCNT):c.8996+12C>T
|
rs369265202
|
0.00023
|
NM_006031.6(PCNT):c.5726C>T (p.Pro1909Leu)
|
rs781468861
|
0.00022
|
NM_006031.6(PCNT):c.7345T>A (p.Trp2449Arg)
|
rs199778396
|
0.00022
|
NM_006031.6(PCNT):c.8172C>T (p.Ile2724=)
|
rs146717642
|
0.00022
|
NM_006031.6(PCNT):c.2358A>G (p.Ile786Met)
|
rs777841149
|
0.00021
|
NM_006031.6(PCNT):c.5940C>T (p.Gly1980=)
|
rs150436577
|
0.00021
|
NM_006031.6(PCNT):c.2566G>A (p.Val856Met)
|
rs143023746
|
0.00020
|
NM_006031.6(PCNT):c.5370C>T (p.Gly1790=)
|
rs192388432
|
0.00020
|
NM_006031.6(PCNT):c.5680G>A (p.Val1894Ile)
|
rs113208348
|
0.00020
|
NM_006031.6(PCNT):c.6277G>A (p.Asp2093Asn)
|
rs200303861
|
0.00020
|
NM_006031.6(PCNT):c.2178C>T (p.Asp726=)
|
rs148495760
|
0.00019
|
NM_006031.6(PCNT):c.4395G>A (p.Gln1465=)
|
rs112911892
|
0.00019
|
NM_006031.6(PCNT):c.4946T>C (p.Leu1649Pro)
|
rs149214680
|
0.00019
|
NM_006031.6(PCNT):c.7297T>C (p.Ser2433Pro)
|
rs113536916
|
0.00019
|
NM_006031.6(PCNT):c.8951C>G (p.Ser2984Cys)
|
rs376696104
|
0.00019
|
NM_006031.6(PCNT):c.9138C>T (p.Asp3046=)
|
rs141856476
|
0.00019
|
NM_006031.6(PCNT):c.9363C>A (p.Ala3121=)
|
rs144262961
|
0.00019
|
NM_006031.6(PCNT):c.2714A>G (p.Gln905Arg)
|
rs112231246
|
0.00018
|
NM_006031.6(PCNT):c.6819G>A (p.Gly2273=)
|
rs200610141
|
0.00018
|
NM_006031.6(PCNT):c.1040A>G (p.Lys347Arg)
|
rs80166001
|
0.00017
|
NM_006031.6(PCNT):c.2260G>T (p.Val754Phe)
|
rs375312732
|
0.00017
|
NM_006031.6(PCNT):c.5994+14G>C
|
rs749371662
|
0.00017
|
NM_006031.6(PCNT):c.8064+6_8064+7del
|
rs768943958
|
0.00017
|
NM_006031.6(PCNT):c.9684C>T (p.Gly3228=)
|
rs1128166
|
0.00017
|
NM_006031.6(PCNT):c.*179G>A
|
rs1043813292
|
0.00016
|
NM_006031.6(PCNT):c.427C>T (p.Arg143Cys)
|
rs201176638
|
0.00016
|
NM_006031.6(PCNT):c.6150+3G>A
|
rs760779996
|
0.00016
|
NM_006031.6(PCNT):c.6722G>A (p.Ser2241Asn)
|
rs142402562
|
0.00016
|
NM_006031.6(PCNT):c.6800C>T (p.Ser2267Leu)
|
rs548287016
|
0.00016
|
NM_006031.6(PCNT):c.7011T>C (p.Asp2337=)
|
rs138506849
|
0.00016
|
NM_006031.6(PCNT):c.7058C>G (p.Pro2353Arg)
|
rs139978398
|
0.00016
|
NM_006031.6(PCNT):c.7179+18G>A
|
rs370492724
|
0.00016
|
NM_006031.6(PCNT):c.8130C>T (p.His2710=)
|
rs373738288
|
0.00016
|
NM_006031.6(PCNT):c.8401G>C (p.Val2801Leu)
|
rs138868039
|
0.00016
|
NM_006031.6(PCNT):c.8528T>G (p.Leu2843Arg)
|
rs569737144
|
0.00016
|
NM_006031.6(PCNT):c.9128A>G (p.Gln3043Arg)
|
rs747647379
|
0.00016
|
NM_006031.6(PCNT):c.9840-4G>A
|
rs199857861
|
0.00016
|
NM_006031.6(PCNT):c.1370A>G (p.Glu457Gly)
|
rs147868583
|
0.00015
|
NM_006031.6(PCNT):c.2559G>A (p.Ala853=)
|
rs757405970
|
0.00015
|
NM_006031.6(PCNT):c.934C>T (p.Arg312Trp)
|
rs572076735
|
0.00015
|
NM_006031.6(PCNT):c.9584G>A (p.Arg3195Lys)
|
rs78524660
|
0.00015
|
NM_006031.6(PCNT):c.2458C>T (p.Arg820Cys)
|
rs369586175
|
0.00014
|
NM_006031.6(PCNT):c.4216+9C>T
|
rs369876466
|
0.00014
|
NM_006031.6(PCNT):c.5603C>T (p.Ala1868Val)
|
rs369038814
|
0.00014
|
NM_006031.6(PCNT):c.5661C>T (p.His1887=)
|
rs145784615
|
0.00014
|
NM_006031.6(PCNT):c.5705G>A (p.Arg1902His)
|
rs201536644
|
0.00014
|
NM_006031.6(PCNT):c.6096G>A (p.Ser2032=)
|
rs370040791
|
0.00014
|
NM_006031.6(PCNT):c.6895G>A (p.Asp2299Asn)
|
rs150156962
|
0.00014
|
NM_006031.6(PCNT):c.7459C>G (p.Leu2487Val)
|
rs201185279
|
0.00014
|
NM_006031.6(PCNT):c.776C>T (p.Thr259Met)
|
rs141575204
|
0.00014
|
NM_006031.6(PCNT):c.8947C>T (p.Leu2983Phe)
|
rs372356069
|
0.00014
|
NM_006031.6(PCNT):c.9217G>A (p.Val3073Met)
|
rs371058544
|
0.00014
|
NM_006031.6(PCNT):c.959G>A (p.Arg320Lys)
|
rs149844283
|
0.00014
|
NM_006031.6(PCNT):c.9852C>T (p.Ser3284=)
|
rs142800774
|
0.00014
|
NM_006031.6(PCNT):c.9871A>G (p.Arg3291Gly)
|
rs147637351
|
0.00014
|
NM_006031.6(PCNT):c.3220C>T (p.Arg1074Trp)
|
rs200174202
|
0.00013
|
NM_006031.6(PCNT):c.4554C>T (p.Arg1518=)
|
rs751932532
|
0.00013
|
NM_006031.6(PCNT):c.5027T>C (p.Ile1676Thr)
|
rs140290722
|
0.00013
|
NM_006031.6(PCNT):c.6977G>A (p.Ser2326Asn)
|
rs201728927
|
0.00013
|
NM_006031.6(PCNT):c.3363C>T (p.Ser1121=)
|
rs141878320
|
0.00012
|
NM_006031.6(PCNT):c.4056C>T (p.Ala1352=)
|
rs141211481
|
0.00012
|
NM_006031.6(PCNT):c.4791+14A>G
|
rs201124068
|
0.00012
|
NM_006031.6(PCNT):c.5741C>T (p.Ala1914Val)
|
rs748285536
|
0.00012
|
NM_006031.6(PCNT):c.5826G>A (p.Arg1942=)
|
rs536281306
|
0.00012
|
NM_006031.6(PCNT):c.6885G>A (p.Pro2295=)
|
rs752200836
|
0.00012
|
NM_006031.6(PCNT):c.7413G>A (p.Glu2471=)
|
rs191561981
|
0.00012
|
NM_006031.6(PCNT):c.9030A>G (p.Lys3010=)
|
rs138791485
|
0.00012
|
NM_006031.6(PCNT):c.9866T>C (p.Leu3289Ser)
|
rs199737174
|
0.00012
|
NM_006031.6(PCNT):c.*234C>T
|
rs868047279
|
0.00011
|
NM_006031.6(PCNT):c.1185T>C (p.Phe395=)
|
rs764314231
|
0.00011
|
NM_006031.6(PCNT):c.1936+8C>T
|
rs200759036
|
0.00011
|
NM_006031.6(PCNT):c.2609+16C>T
|
rs762049505
|
0.00011
|
NM_006031.6(PCNT):c.3423C>T (p.Leu1141=)
|
rs113763153
|
0.00011
|
NM_006031.6(PCNT):c.4078C>T (p.Arg1360Cys)
|
rs202221024
|
0.00011
|
NM_006031.6(PCNT):c.4223G>A (p.Arg1408Gln)
|
rs199661615
|
0.00011
|
NM_006031.6(PCNT):c.4378G>A (p.Val1460Ile)
|
rs766688176
|
0.00011
|
NM_006031.6(PCNT):c.4775T>G (p.Val1592Gly)
|
rs141276542
|
0.00011
|
NM_006031.6(PCNT):c.5493G>A (p.Ala1831=)
|
rs142278771
|
0.00011
|
NM_006031.6(PCNT):c.5582C>T (p.Ala1861Val)
|
rs373238616
|
0.00011
|
NM_006031.6(PCNT):c.5704C>T (p.Arg1902Cys)
|
rs752178247
|
0.00011
|
NM_006031.6(PCNT):c.7755G>A (p.Leu2585=)
|
rs144026961
|
0.00011
|
NM_006031.6(PCNT):c.8930C>T (p.Ala2977Val)
|
rs146657011
|
0.00011
|
NM_006031.6(PCNT):c.9332G>A (p.Arg3111His)
|
rs140416280
|
0.00011
|
NM_006031.6(PCNT):c.*307A>G
|
rs879391669
|
0.00010
|
NM_006031.6(PCNT):c.2784C>T (p.Gly928=)
|
rs201809134
|
0.00010
|
NM_006031.6(PCNT):c.3730A>G (p.Met1244Val)
|
rs372323744
|
0.00010
|
NM_006031.6(PCNT):c.3749G>A (p.Arg1250Gln)
|
rs202005598
|
0.00010
|
NM_006031.6(PCNT):c.4447-2A>G
|
rs760664460
|
0.00010
|
NM_006031.6(PCNT):c.6395A>G (p.Asn2132Ser)
|
rs886057187
|
0.00010
|
NM_006031.6(PCNT):c.6635G>A (p.Arg2212Gln)
|
rs201503338
|
0.00010
|
NM_006031.6(PCNT):c.9123G>A (p.Gln3041=)
|
rs753027643
|
0.00010
|
NM_006031.6(PCNT):c.947A>T (p.Glu316Val)
|
rs201194745
|
0.00010
|
NM_006031.6(PCNT):c.977C>T (p.Ala326Val)
|
rs181165794
|
0.00010
|
NM_006031.6(PCNT):c.1155A>G (p.Ala385=)
|
rs201944549
|
0.00009
|
NM_006031.6(PCNT):c.1490G>A (p.Arg497His)
|
rs150365416
|
0.00009
|
NM_006031.6(PCNT):c.1590T>C (p.Ala530=)
|
rs200294006
|
0.00009
|
NM_006031.6(PCNT):c.1828T>C (p.Ser610Pro)
|
rs141582787
|
0.00009
|
NM_006031.6(PCNT):c.236C>T (p.Pro79Leu)
|
rs745598788
|
0.00009
|
NM_006031.6(PCNT):c.244G>A (p.Ala82Thr)
|
rs143870030
|
0.00009
|
NM_006031.6(PCNT):c.3403C>A (p.Arg1135=)
|
rs143490174
|
0.00009
|
NM_006031.6(PCNT):c.4201G>A (p.Glu1401Lys)
|
rs776308749
|
0.00009
|
NM_006031.6(PCNT):c.4442T>C (p.Met1481Thr)
|
rs376604964
|
0.00009
|
NM_006031.6(PCNT):c.4519C>T (p.Arg1507Cys)
|
rs138898378
|
0.00009
|
NM_006031.6(PCNT):c.4527G>A (p.Ala1509=)
|
rs142020803
|
0.00009
|
NM_006031.6(PCNT):c.4568C>T (p.Ala1523Val)
|
rs138175397
|
0.00009
|
NM_006031.6(PCNT):c.4838C>T (p.Ala1613Val)
|
rs546562229
|
0.00009
|
NM_006031.6(PCNT):c.5079C>T (p.Ser1693=)
|
rs377039885
|
0.00009
|
NM_006031.6(PCNT):c.5115G>A (p.Lys1705=)
|
rs141860893
|
0.00009
|
NM_006031.6(PCNT):c.5477G>C (p.Gly1826Ala)
|
rs199847432
|
0.00009
|
NM_006031.6(PCNT):c.6822G>A (p.Pro2274=)
|
rs375741970
|
0.00009
|
NM_006031.6(PCNT):c.7300C>A (p.Leu2434Ile)
|
rs112633352
|
0.00009
|
NM_006031.6(PCNT):c.7689G>T (p.Gln2563His)
|
rs199936673
|
0.00009
|
NM_006031.6(PCNT):c.8537C>T (p.Thr2846Met)
|
rs142800204
|
0.00009
|
NM_006031.6(PCNT):c.9099+8G>T
|
rs369178196
|
0.00009
|
NM_006031.6(PCNT):c.9155A>G (p.Asn3052Ser)
|
rs779546932
|
0.00009
|
NM_006031.6(PCNT):c.9235T>C (p.Leu3079=)
|
rs144651746
|
0.00009
|
NM_006031.6(PCNT):c.9334C>T (p.Pro3112Ser)
|
rs534490490
|
0.00009
|
NM_006031.6(PCNT):c.*421A>G
|
rs886057198
|
0.00008
|
NM_006031.6(PCNT):c.3144C>T (p.His1048=)
|
rs139345424
|
0.00008
|
NM_006031.6(PCNT):c.406G>A (p.Gly136Ser)
|
rs59183158
|
0.00008
|
NM_006031.6(PCNT):c.5994+4G>A
|
rs781737632
|
0.00008
|
NM_006031.6(PCNT):c.6276C>T (p.Ala2092=)
|
rs755726044
|
0.00008
|
NM_006031.6(PCNT):c.6348C>T (p.Asp2116=)
|
rs144430478
|
0.00008
|
NM_006031.6(PCNT):c.6625G>A (p.Ala2209Thr)
|
rs769183047
|
0.00008
|
NM_006031.6(PCNT):c.6876C>T (p.Ala2292=)
|
rs761995771
|
0.00008
|
NM_006031.6(PCNT):c.6887C>T (p.Pro2296Leu)
|
rs199844366
|
0.00008
|
NM_006031.6(PCNT):c.6904G>A (p.Val2302Met)
|
rs374601017
|
0.00008
|
NM_006031.6(PCNT):c.7179+17C>T
|
rs774896211
|
0.00008
|
NM_006031.6(PCNT):c.721-5C>T
|
rs144683591
|
0.00008
|
NM_006031.6(PCNT):c.8751+9C>T
|
rs778311816
|
0.00008
|
NM_006031.6(PCNT):c.8895G>A (p.Ala2965=)
|
rs572222540
|
0.00008
|
NM_006031.6(PCNT):c.909G>A (p.Leu303=)
|
rs759236031
|
0.00008
|
NM_006031.6(PCNT):c.1236T>C (p.His412=)
|
rs769637090
|
0.00007
|
NM_006031.6(PCNT):c.1463A>G (p.His488Arg)
|
rs201966670
|
0.00007
|
NM_006031.6(PCNT):c.1491T>G (p.Arg497=)
|
rs750149641
|
0.00007
|
NM_006031.6(PCNT):c.1876G>A (p.Val626Ile)
|
rs201507947
|
0.00007
|
NM_006031.6(PCNT):c.3221G>A (p.Arg1074Gln)
|
rs756810982
|
0.00007
|
NM_006031.6(PCNT):c.3389G>A (p.Arg1130Gln)
|
rs140003788
|
0.00007
|
NM_006031.6(PCNT):c.3885T>C (p.Phe1295=)
|
rs755298136
|
0.00007
|
NM_006031.6(PCNT):c.418C>T (p.Pro140Ser)
|
rs774241611
|
0.00007
|
NM_006031.6(PCNT):c.4193C>T (p.Thr1398Met)
|
rs369257031
|
0.00007
|
NM_006031.6(PCNT):c.505C>T (p.Arg169Cys)
|
rs748260212
|
0.00007
|
NM_006031.6(PCNT):c.6425T>C (p.Ile2142Thr)
|
rs373849607
|
0.00007
|
NM_006031.6(PCNT):c.8115C>T (p.Cys2705=)
|
rs756904669
|
0.00007
|
NM_006031.6(PCNT):c.8955C>T (p.Ala2985=)
|
rs368445228
|
0.00007
|
NM_006031.6(PCNT):c.8959C>T (p.Arg2987Trp)
|
rs587784322
|
0.00007
|
NM_006031.6(PCNT):c.9163C>A (p.Leu3055Ile)
|
rs754586558
|
0.00007
|
NM_006031.6(PCNT):c.9618A>G (p.Ile3206Met)
|
rs372895276
|
0.00007
|
NM_006031.6(PCNT):c.16G>C (p.Glu6Gln)
|
rs761540486
|
0.00006
|
NM_006031.6(PCNT):c.1943C>G (p.Pro648Arg)
|
rs752992538
|
0.00006
|
NM_006031.6(PCNT):c.2444C>T (p.Thr815Met)
|
rs201895762
|
0.00006
|
NM_006031.6(PCNT):c.2545G>A (p.Gly849Arg)
|
rs776223654
|
0.00006
|
NM_006031.6(PCNT):c.267+3A>G
|
rs771971500
|
0.00006
|
NM_006031.6(PCNT):c.2710C>T (p.Leu904Phe)
|
rs61735804
|
0.00006
|
NM_006031.6(PCNT):c.405C>T (p.Val135=)
|
rs371917839
|
0.00006
|
NM_006031.6(PCNT):c.4163G>A (p.Arg1388His)
|
rs775895650
|
0.00006
|
NM_006031.6(PCNT):c.4387C>A (p.Leu1463Met)
|
rs193261408
|
0.00006
|
NM_006031.6(PCNT):c.4605G>T (p.Lys1535Asn)
|
rs775413533
|
0.00006
|
NM_006031.6(PCNT):c.4785G>A (p.Leu1595=)
|
rs528306548
|
0.00006
|
NM_006031.6(PCNT):c.5341G>A (p.Gly1781Arg)
|
rs200137805
|
0.00006
|
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.5960A>T (p.Asp1987Val)
|
rs374300652
|
0.00006
|
NM_006031.6(PCNT):c.6150+8G>A
|
rs894234623
|
0.00006
|
NM_006031.6(PCNT):c.6295C>T (p.Pro2099Ser)
|
rs371054707
|
0.00006
|
NM_006031.6(PCNT):c.6651G>T (p.Gly2217=)
|
rs755119869
|
0.00006
|
NM_006031.6(PCNT):c.7302C>A (p.Leu2434=)
|
rs369252735
|
0.00006
|
NM_006031.6(PCNT):c.7558G>A (p.Glu2520Lys)
|
rs375572719
|
0.00006
|
NM_006031.6(PCNT):c.7634C>T (p.Ala2545Val)
|
rs150303409
|
0.00006
|
NM_006031.6(PCNT):c.8116G>A (p.Val2706Met)
|
rs780988556
|
0.00006
|
NM_006031.6(PCNT):c.8188G>A (p.Glu2730Lys)
|
rs201840054
|
0.00006
|
NM_006031.6(PCNT):c.8244G>A (p.Ala2748=)
|
rs748701723
|
0.00006
|
NM_006031.6(PCNT):c.8564G>A (p.Arg2855Gln)
|
rs568559091
|
0.00006
|
NM_006031.6(PCNT):c.8569C>T (p.Leu2857=)
|
rs375869631
|
0.00006
|
NM_006031.6(PCNT):c.8883C>T (p.Ala2961=)
|
rs371900466
|
0.00006
|
NM_006031.6(PCNT):c.8997-18G>T
|
rs549927628
|
0.00006
|
NM_006031.6(PCNT):c.9279G>A (p.Ser3093=)
|
rs199596313
|
0.00006
|
NM_006031.6(PCNT):c.930C>T (p.His310=)
|
rs778056605
|
0.00006
|
NM_006031.6(PCNT):c.9698C>G (p.Pro3233Arg)
|
rs373681566
|
0.00006
|
NM_006031.6(PCNT):c.9826C>T (p.His3276Tyr)
|
rs202170105
|
0.00006
|
NM_006031.6(PCNT):c.1181T>C (p.Ile394Thr)
|
rs200545088
|
0.00005
|
NM_006031.6(PCNT):c.2040A>G (p.Gln680=)
|
rs541212970
|
0.00005
|
NM_006031.6(PCNT):c.3395G>A (p.Arg1132Gln)
|
rs200148867
|
0.00005
|
NM_006031.6(PCNT):c.3648G>A (p.Pro1216=)
|
rs756724097
|
0.00005
|
NM_006031.6(PCNT):c.3716G>A (p.Arg1239His)
|
rs201315836
|
0.00005
|
NM_006031.6(PCNT):c.389A>G (p.His130Arg)
|
rs57046460
|
0.00005
|
NM_006031.6(PCNT):c.4216+11C>T
|
rs776009557
|
0.00005
|
NM_006031.6(PCNT):c.4447-18C>T
|
rs772962754
|
0.00005
|
NM_006031.6(PCNT):c.4962+3G>A
|
rs376215188
|
0.00005
|
NM_006031.6(PCNT):c.5323C>G (p.Leu1775Val)
|
rs147409139
|
0.00005
|
NM_006031.6(PCNT):c.6141C>T (p.Asp2047=)
|
rs144445891
|
0.00005
|
NM_006031.6(PCNT):c.6922-4A>G
|
rs587784317
|
0.00005
|
NM_006031.6(PCNT):c.7006G>A (p.Ala2336Thr)
|
rs144612972
|
0.00005
|
NM_006031.6(PCNT):c.7029C>T (p.Asp2343=)
|
rs143064269
|
0.00005
|
NM_006031.6(PCNT):c.7180-7G>A
|
rs201549624
|
0.00005
|
NM_006031.6(PCNT):c.7298C>T (p.Ser2433Leu)
|
rs769852846
|
0.00005
|
NM_006031.6(PCNT):c.7573C>T (p.Arg2525Cys)
|
rs143367154
|
0.00005
|
NM_006031.6(PCNT):c.7577C>G (p.Ala2526Gly)
|
rs746987536
|
0.00005
|
NM_006031.6(PCNT):c.7913+4C>T
|
rs376736200
|
0.00005
|
NM_006031.6(PCNT):c.7951G>A (p.Ala2651Thr)
|
rs760162051
|
0.00005
|
NM_006031.6(PCNT):c.8209C>T (p.Arg2737Trp)
|
rs369377623
|
0.00005
|
NM_006031.6(PCNT):c.8977A>G (p.Thr2993Ala)
|
rs375035745
|
0.00005
|
NM_006031.6(PCNT):c.*110G>A
|
rs773970145
|
0.00004
|
NM_006031.6(PCNT):c.1246A>G (p.Ile416Val)
|
rs368199588
|
0.00004
|
NM_006031.6(PCNT):c.1281C>T (p.His427=)
|
rs142413458
|
0.00004
|
NM_006031.6(PCNT):c.1457-5T>A
|
rs769237607
|
0.00004
|
NM_006031.6(PCNT):c.1820C>T (p.Ala607Val)
|
rs146189038
|
0.00004
|
NM_006031.6(PCNT):c.1995G>T (p.Glu665Asp)
|
rs768518510
|
0.00004
|
NM_006031.6(PCNT):c.2282G>A (p.Arg761Gln)
|
rs538499651
|
0.00004
|
NM_006031.6(PCNT):c.2376A>C (p.Arg792=)
|
rs759858754
|
0.00004
|
NM_006031.6(PCNT):c.2724C>G (p.His908Gln)
|
rs746750267
|
0.00004
|
NM_006031.6(PCNT):c.2872G>A (p.Gly958Ser)
|
rs541135644
|
0.00004
|
NM_006031.6(PCNT):c.3108C>T (p.Thr1036=)
|
rs182694054
|
0.00004
|
NM_006031.6(PCNT):c.3313C>T (p.Leu1105=)
|
rs1029955995
|
0.00004
|
NM_006031.6(PCNT):c.3464+14C>T
|
rs187366347
|
0.00004
|
NM_006031.6(PCNT):c.3528C>T (p.Ala1176=)
|
rs146928526
|
0.00004
|
NM_006031.6(PCNT):c.3607+12G>A
|
rs750787900
|
0.00004
|
NM_006031.6(PCNT):c.3611C>T (p.Pro1204Leu)
|
rs749542536
|
0.00004
|
NM_006031.6(PCNT):c.4371G>A (p.Ala1457=)
|
rs761736816
|
0.00004
|
NM_006031.6(PCNT):c.4423C>T (p.Arg1475Cys)
|
rs778468425
|
0.00004
|
NM_006031.6(PCNT):c.4424G>A (p.Arg1475His)
|
rs751714492
|
0.00004
|
NM_006031.6(PCNT):c.4791+8G>A
|
rs769352853
|
0.00004
|
NM_006031.6(PCNT):c.484A>G (p.Ser162Gly)
|
rs755909353
|
0.00004
|
NM_006031.6(PCNT):c.48G>A (p.Arg16=)
|
rs778757744
|
0.00004
|
NM_006031.6(PCNT):c.5647C>T (p.Arg1883Trp)
|
rs746468689
|
0.00004
|
NM_006031.6(PCNT):c.5698C>T (p.Arg1900Cys)
|
rs529740865
|
0.00004
|
NM_006031.6(PCNT):c.5791C>T (p.Arg1931Cys)
|
rs771047395
|
0.00004
|
NM_006031.6(PCNT):c.5803G>C (p.Val1935Leu)
|
rs774248299
|
0.00004
|
NM_006031.6(PCNT):c.5849G>A (p.Arg1950Gln)
|
rs753398573
|
0.00004
|
NM_006031.6(PCNT):c.591C>G (p.Ile197Met)
|
rs559031201
|
0.00004
|
NM_006031.6(PCNT):c.5937C>T (p.Thr1979=)
|
rs181294356
|
0.00004
|
NM_006031.6(PCNT):c.6032C>T (p.Ala2011Val)
|
rs145119952
|
0.00004
|
NM_006031.6(PCNT):c.6144C>T (p.Gly2048=)
|
rs777489939
|
0.00004
|
NM_006031.6(PCNT):c.6145G>A (p.Gly2049Ser)
|
rs10222114
|
0.00004
|
NM_006031.6(PCNT):c.622C>T (p.Arg208Cys)
|
rs147670433
|
0.00004
|
NM_006031.6(PCNT):c.6261G>A (p.Gln2087=)
|
rs181127717
|
0.00004
|
NM_006031.6(PCNT):c.6404C>T (p.Thr2135Met)
|
rs145710874
|
0.00004
|
NM_006031.6(PCNT):c.6408G>C (p.Gly2136=)
|
rs141594796
|
0.00004
|
NM_006031.6(PCNT):c.6631C>T (p.Pro2211Ser)
|
rs775124083
|
0.00004
|
NM_006031.6(PCNT):c.6644C>T (p.Pro2215Leu)
|
rs750958898
|
0.00004
|
NM_006031.6(PCNT):c.6768C>T (p.Ala2256=)
|
rs755956494
|
0.00004
|
NM_006031.6(PCNT):c.685G>A (p.Gly229Ser)
|
rs750556592
|
0.00004
|
NM_006031.6(PCNT):c.7180-16C>T
|
rs972844919
|
0.00004
|
NM_006031.6(PCNT):c.7271G>A (p.Arg2424Gln)
|
rs371893416
|
0.00004
|
NM_006031.6(PCNT):c.7568C>T (p.Ala2523Val)
|
rs368569999
|
0.00004
|
NM_006031.6(PCNT):c.7690+3G>C
|
rs955395192
|
0.00004
|
NM_006031.6(PCNT):c.7848C>T (p.Ser2616=)
|
rs759569235
|
0.00004
|
NM_006031.6(PCNT):c.7871C>T (p.Ser2624Phe)
|
rs199981467
|
0.00004
|
NM_006031.6(PCNT):c.7939G>A (p.Glu2647Lys)
|
rs886267351
|
0.00004
|
NM_006031.6(PCNT):c.8243C>T (p.Ala2748Val)
|
rs569798532
|
0.00004
|
NM_006031.6(PCNT):c.8268G>T (p.Glu2756Asp)
|
rs764010211
|
0.00004
|
NM_006031.6(PCNT):c.8349C>T (p.Asp2783=)
|
rs145748861
|
0.00004
|
NM_006031.6(PCNT):c.8873G>A (p.Arg2958His)
|
rs574728262
|
0.00004
|
NM_006031.6(PCNT):c.8888C>T (p.Ser2963Leu)
|
rs374903045
|
0.00004
|
NM_006031.6(PCNT):c.9173C>T (p.Ala3058Val)
|
rs778401682
|
0.00004
|
NM_006031.6(PCNT):c.9331C>T (p.Arg3111Cys)
|
rs1007600831
|
0.00004
|
NM_006031.6(PCNT):c.9393+17G>A
|
rs769089391
|
0.00004
|
NM_006031.6(PCNT):c.9532G>C (p.Gly3178Arg)
|
rs372024492
|
0.00004
|
NM_006031.6(PCNT):c.9649C>G (p.Gln3217Glu)
|
rs200431921
|
0.00004
|
NM_006031.6(PCNT):c.9706C>T (p.Arg3236Ter)
|
rs757793925
|
0.00004
|
NM_006031.6(PCNT):c.1032+6C>T
|
rs367920438
|
0.00003
|
NM_006031.6(PCNT):c.1207+9T>C
|
rs372223976
|
0.00003
|
NM_006031.6(PCNT):c.1224G>A (p.Leu408=)
|
rs797045874
|
0.00003
|
NM_006031.6(PCNT):c.1743C>T (p.Leu581=)
|
rs375581809
|
0.00003
|
NM_006031.6(PCNT):c.1754G>A (p.Arg585Gln)
|
rs769615384
|
0.00003
|
NM_006031.6(PCNT):c.1762-16C>T
|
rs756780396
|
0.00003
|
NM_006031.6(PCNT):c.1790T>C (p.Leu597Ser)
|
rs371296160
|
0.00003
|
NM_006031.6(PCNT):c.1963G>T (p.Val655Leu)
|
rs756261885
|
0.00003
|
NM_006031.6(PCNT):c.2154+8G>A
|
rs778407564
|
0.00003
|
NM_006031.6(PCNT):c.2179C>G (p.His727Asp)
|
rs767864228
|
0.00003
|
NM_006031.6(PCNT):c.2454G>A (p.Gln818=)
|
rs375305165
|
0.00003
|
NM_006031.6(PCNT):c.2647A>G (p.Ser883Gly)
|
rs771897801
|
0.00003
|
NM_006031.6(PCNT):c.2779T>C (p.Leu927=)
|
rs752161383
|
0.00003
|
NM_006031.6(PCNT):c.3061C>T (p.Arg1021Trp)
|
rs138361417
|
0.00003
|
NM_006031.6(PCNT):c.336T>C (p.His112=)
|
rs59157477
|
0.00003
|
NM_006031.6(PCNT):c.339T>A (p.Pro113=)
|
rs59662841
|
0.00003
|
NM_006031.6(PCNT):c.3411C>T (p.Gly1137=)
|
rs375993930
|
0.00003
|
NM_006031.6(PCNT):c.3464G>A (p.Arg1155Lys)
|
rs886057181
|
0.00003
|
NM_006031.6(PCNT):c.3469G>C (p.Ala1157Pro)
|
rs778900170
|
0.00003
|
NM_006031.6(PCNT):c.3571C>T (p.Leu1191=)
|
rs370240856
|
0.00003
|
NM_006031.6(PCNT):c.363A>C (p.Thr121=)
|
rs150766997
|
0.00003
|
NM_006031.6(PCNT):c.3714G>C (p.Met1238Ile)
|
rs886057183
|
0.00003
|
NM_006031.6(PCNT):c.4555G>A (p.Asp1519Asn)
|
rs762126145
|
0.00003
|
NM_006031.6(PCNT):c.4614A>G (p.Glu1538=)
|
rs551574709
|
0.00003
|
NM_006031.6(PCNT):c.481G>A (p.Val161Ile)
|
rs555841008
|
0.00003
|
NM_006031.6(PCNT):c.54+9T>A
|
rs771000653
|
0.00003
|
NM_006031.6(PCNT):c.5425C>G (p.Gln1809Glu)
|
rs1225828617
|
0.00003
|
NM_006031.6(PCNT):c.5431C>T (p.Arg1811Cys)
|
rs587784309
|
0.00003
|
NM_006031.6(PCNT):c.5492C>T (p.Ala1831Val)
|
rs761263896
|
0.00003
|
NM_006031.6(PCNT):c.5648G>A (p.Arg1883Gln)
|
rs770575971
|
0.00003
|
NM_006031.6(PCNT):c.5679C>T (p.Ala1893=)
|
rs761816773
|
0.00003
|
NM_006031.6(PCNT):c.6208G>A (p.Val2070Met)
|
rs774856071
|
0.00003
|
NM_006031.6(PCNT):c.6298A>G (p.Met2100Val)
|
rs777875886
|
0.00003
|
NM_006031.6(PCNT):c.6458A>G (p.Asn2153Ser)
|
rs758705082
|
0.00003
|
NM_006031.6(PCNT):c.6572C>A (p.Ser2191Tyr)
|
rs587784315
|
0.00003
|
NM_006031.6(PCNT):c.6648C>T (p.Val2216=)
|
rs527590016
|
0.00003
|
NM_006031.6(PCNT):c.6844G>A (p.Val2282Met)
|
rs747273657
|
0.00003
|
NM_006031.6(PCNT):c.6884C>T (p.Pro2295Leu)
|
rs572123043
|
0.00003
|
NM_006031.6(PCNT):c.6888G>A (p.Pro2296=)
|
rs532762118
|
0.00003
|
NM_006031.6(PCNT):c.7061G>T (p.Gly2354Val)
|
rs144775948
|
0.00003
|
NM_006031.6(PCNT):c.7136C>T (p.Pro2379Leu)
|
rs151230453
|
0.00003
|
NM_006031.6(PCNT):c.7198C>T (p.Arg2400Cys)
|
rs751297741
|
0.00003
|
NM_006031.6(PCNT):c.7236C>T (p.Gly2412=)
|
rs773500833
|
0.00003
|
NM_006031.6(PCNT):c.7252G>A (p.Gly2418Ser)
|
rs201389292
|
0.00003
|
NM_006031.6(PCNT):c.7282G>A (p.Glu2428Lys)
|
rs778163048
|
0.00003
|
NM_006031.6(PCNT):c.7304A>G (p.His2435Arg)
|
rs373432697
|
0.00003
|
NM_006031.6(PCNT):c.7424G>A (p.Arg2475Gln)
|
rs149779006
|
0.00003
|
NM_006031.6(PCNT):c.788A>G (p.Glu263Gly)
|
rs886057178
|
0.00003
|
NM_006031.6(PCNT):c.8284C>T (p.Arg2762Trp)
|
rs761885630
|
0.00003
|
NM_006031.6(PCNT):c.8290G>C (p.Glu2764Gln)
|
rs372871511
|
0.00003
|
NM_006031.6(PCNT):c.863G>A (p.Arg288His)
|
rs542099749
|
0.00003
|
NM_006031.6(PCNT):c.8884G>A (p.Gly2962Ser)
|
rs542238990
|
0.00003
|
NM_006031.6(PCNT):c.9035T>C (p.Val3012Ala)
|
rs557745291
|
0.00003
|
NM_006031.6(PCNT):c.9304G>A (p.Glu3102Lys)
|
rs775636867
|
0.00003
|
NM_006031.6(PCNT):c.9597C>T (p.Ala3199=)
|
rs780802031
|
0.00003
|
NM_006031.6(PCNT):c.9719C>T (p.Pro3240Leu)
|
rs138860570
|
0.00003
|
NM_006031.6(PCNT):c.1018G>A (p.Ala340Thr)
|
rs775338231
|
0.00002
|
NM_006031.6(PCNT):c.1456+16G>A
|
rs765900162
|
0.00002
|
NM_006031.6(PCNT):c.1468C>T (p.Gln490Ter)
|
rs181690344
|
0.00002
|
NM_006031.6(PCNT):c.1606G>A (p.Glu536Lys)
|
rs750239503
|
0.00002
|
NM_006031.6(PCNT):c.1775G>A (p.Arg592His)
|
rs754798472
|
0.00002
|
NM_006031.6(PCNT):c.1849G>C (p.Glu617Gln)
|
rs747165033
|
0.00002
|
NM_006031.6(PCNT):c.2347dup (p.Gln783fs)
|
rs766116729
|
0.00002
|
NM_006031.6(PCNT):c.2522G>A (p.Arg841Gln)
|
rs545597119
|
0.00002
|
NM_006031.6(PCNT):c.2567T>G (p.Val856Gly)
|
rs755388467
|
0.00002
|
NM_006031.6(PCNT):c.2602C>T (p.Arg868Trp)
|
rs775482294
|
0.00002
|
NM_006031.6(PCNT):c.2681A>G (p.Gln894Arg)
|
rs763483779
|
0.00002
|
NM_006031.6(PCNT):c.2865C>T (p.Ala955=)
|
rs540548340
|
0.00002
|
NM_006031.6(PCNT):c.2899A>G (p.Ser967Gly)
|
rs145451194
|
0.00002
|
NM_006031.6(PCNT):c.3263A>G (p.Lys1088Arg)
|
rs536739614
|
0.00002
|
NM_006031.6(PCNT):c.3312+14G>A
|
rs371666981
|
0.00002
|
NM_006031.6(PCNT):c.3465-1G>A
|
rs755084205
|
0.00002
|
NM_006031.6(PCNT):c.3557G>A (p.Arg1186His)
|
rs751935483
|
0.00002
|
NM_006031.6(PCNT):c.3710A>G (p.His1237Arg)
|
rs761299168
|
0.00002
|
NM_006031.6(PCNT):c.3880G>T (p.Glu1294Ter)
|
rs1359618876
|
0.00002
|
NM_006031.6(PCNT):c.4004-15G>A
|
rs370163972
|
0.00002
|
NM_006031.6(PCNT):c.4093C>T (p.Leu1365=)
|
rs765239781
|
0.00002
|
NM_006031.6(PCNT):c.4108C>T (p.Arg1370Trp)
|
rs751846963
|
0.00002
|
NM_006031.6(PCNT):c.4172G>A (p.Ser1391Asn)
|
rs764095531
|
0.00002
|
NM_006031.6(PCNT):c.4230A>G (p.Glu1410=)
|
rs774962506
|
0.00002
|
NM_006031.6(PCNT):c.4351C>T (p.Arg1451Cys)
|
rs200606073
|
0.00002
|
NM_006031.6(PCNT):c.4356G>T (p.Gly1452=)
|
rs776946965
|
0.00002
|
NM_006031.6(PCNT):c.4431G>A (p.Gln1477=)
|
rs61735807
|
0.00002
|
NM_006031.6(PCNT):c.4474C>T (p.Arg1492Cys)
|
rs764560918
|
0.00002
|
NM_006031.6(PCNT):c.4727A>G (p.Lys1576Arg)
|
rs768872502
|
0.00002
|
NM_006031.6(PCNT):c.4929G>C (p.Val1643=)
|
rs569351854
|
0.00002
|
NM_006031.6(PCNT):c.545G>A (p.Arg182His)
|
rs193268784
|
0.00002
|
NM_006031.6(PCNT):c.571A>C (p.Thr191Pro)
|
rs150001244
|
0.00002
|
NM_006031.6(PCNT):c.5992C>T (p.Gln1998Ter)
|
rs757577162
|
0.00002
|
NM_006031.6(PCNT):c.5994+17G>A
|
rs570628453
|
0.00002
|
NM_006031.6(PCNT):c.5995-2A>C
|
rs1174601545
|
0.00002
|
NM_006031.6(PCNT):c.6150+10G>C
|
rs886057186
|
0.00002
|
NM_006031.6(PCNT):c.6416C>T (p.Thr2139Ile)
|
rs886057188
|
0.00002
|
NM_006031.6(PCNT):c.6593G>A (p.Gly2198Asp)
|
rs137977081
|
0.00002
|
NM_006031.6(PCNT):c.6991G>A (p.Gly2331Arg)
|
rs775387368
|
0.00002
|
NM_006031.6(PCNT):c.7045G>C (p.Ala2349Pro)
|
rs772025323
|
0.00002
|
NM_006031.6(PCNT):c.7137G>T (p.Pro2379=)
|
rs367977723
|
0.00002
|
NM_006031.6(PCNT):c.7167G>A (p.Pro2389=)
|
rs745406750
|
0.00002
|
NM_006031.6(PCNT):c.7316C>T (p.Thr2439Met)
|
rs141561546
|
0.00002
|
NM_006031.6(PCNT):c.7465G>A (p.Glu2489Lys)
|
rs148485670
|
0.00002
|
NM_006031.6(PCNT):c.7632G>A (p.Thr2544=)
|
rs541260181
|
0.00002
|
NM_006031.6(PCNT):c.7653G>A (p.Ala2551=)
|
rs749003465
|
0.00002
|
NM_006031.6(PCNT):c.7988G>A (p.Arg2663His)
|
rs778334017
|
0.00002
|
NM_006031.6(PCNT):c.8257C>T (p.Arg2753Cys)
|
rs772107252
|
0.00002
|
NM_006031.6(PCNT):c.8365G>A (p.Ala2789Thr)
|
rs753073203
|
0.00002
|
NM_006031.6(PCNT):c.8412G>A (p.Leu2804=)
|
rs529137460
|
0.00002
|
NM_006031.6(PCNT):c.8659G>A (p.Gly2887Arg)
|
rs797045881
|
0.00002
|
NM_006031.6(PCNT):c.8718G>A (p.Gln2906=)
|
rs755984222
|
0.00002
|
NM_006031.6(PCNT):c.8810C>T (p.Thr2937Ile)
|
rs372282731
|
0.00002
|
NM_006031.6(PCNT):c.8894C>T (p.Ala2965Val)
|
rs200044004
|
0.00002
|
NM_006031.6(PCNT):c.8942G>A (p.Arg2981Gln)
|
rs747159043
|
0.00002
|
NM_006031.6(PCNT):c.8953G>C (p.Ala2985Pro)
|
rs188889473
|
0.00002
|
NM_006031.6(PCNT):c.903C>T (p.His301=)
|
rs1020485115
|
0.00002
|
NM_006031.6(PCNT):c.9174G>A (p.Ala3058=)
|
rs554275370
|
0.00002
|
NM_006031.6(PCNT):c.9307A>T (p.Thr3103Ser)
|
rs762519501
|
0.00002
|
NM_006031.6(PCNT):c.9393+9G>A
|
rs562812369
|
0.00002
|
NM_006031.6(PCNT):c.9553G>A (p.Glu3185Lys)
|
rs375163327
|
0.00002
|
NM_006031.6(PCNT):c.*126A>G
|
rs2053728715
|
0.00001
|
NM_006031.6(PCNT):c.10007A>G (p.Gln3336Arg)
|
rs794727685
|
0.00001
|
NM_006031.6(PCNT):c.1064A>G (p.Asp355Gly)
|
rs753659648
|
0.00001
|
NM_006031.6(PCNT):c.1069T>C (p.Cys357Arg)
|
rs549300488
|
0.00001
|
NM_006031.6(PCNT):c.1084C>T (p.Arg362Cys)
|
rs777707751
|
0.00001
|
NM_006031.6(PCNT):c.1220A>T (p.Asn407Ile)
|
rs745322520
|
0.00001
|
NM_006031.6(PCNT):c.1335A>G (p.Lys445=)
|
rs771882821
|
0.00001
|
NM_006031.6(PCNT):c.1457-9dup
|
rs1486232846
|
0.00001
|
NM_006031.6(PCNT):c.1474C>T (p.Leu492=)
|
rs772312106
|
0.00001
|
NM_006031.6(PCNT):c.1479G>A (p.Ala493=)
|
rs199864153
|
0.00001
|
NM_006031.6(PCNT):c.1593G>A (p.Glu531=)
|
rs767430243
|
0.00001
|
NM_006031.6(PCNT):c.1737T>C (p.Asp579=)
|
rs1170990391
|
0.00001
|
NM_006031.6(PCNT):c.1899C>T (p.His633=)
|
rs759570685
|
0.00001
|
NM_006031.6(PCNT):c.1918T>G (p.Ser640Ala)
|
rs560044100
|
0.00001
|
NM_006031.6(PCNT):c.2272G>A (p.Glu758Lys)
|
rs772683917
|
0.00001
|
NM_006031.6(PCNT):c.2610-20T>C
|
rs772330014
|
0.00001
|
NM_006031.6(PCNT):c.2610-7G>A
|
rs753811883
|
0.00001
|
NM_006031.6(PCNT):c.2645T>G (p.Phe882Cys)
|
rs778799946
|
0.00001
|
NM_006031.6(PCNT):c.2677G>A (p.Ala893Thr)
|
rs776133593
|
0.00001
|
NM_006031.6(PCNT):c.2728C>T (p.Gln910Ter)
|
rs869312917
|
0.00001
|
NM_006031.6(PCNT):c.2809A>C (p.Lys937Gln)
|
rs577883327
|
0.00001
|
NM_006031.6(PCNT):c.2842G>A (p.Glu948Lys)
|
rs752300035
|
0.00001
|
NM_006031.6(PCNT):c.2947C>T (p.Arg983Cys)
|
rs776993806
|
0.00001
|
NM_006031.6(PCNT):c.2980C>T (p.Arg994Ter)
|
rs768317443
|
0.00001
|
NM_006031.6(PCNT):c.2991T>C (p.Phe997=)
|
rs767625587
|
0.00001
|
NM_006031.6(PCNT):c.3030G>A (p.Thr1010=)
|
rs752831769
|
0.00001
|
NM_006031.6(PCNT):c.307C>T (p.Gln103Ter)
|
rs1290073918
|
0.00001
|
NM_006031.6(PCNT):c.3092G>A (p.Arg1031Gln)
|
rs544000220
|
0.00001
|
NM_006031.6(PCNT):c.3130G>A (p.Gly1044Arg)
|
rs771804321
|
0.00001
|
NM_006031.6(PCNT):c.3179_3199dup (p.Leu1066_His1067insArgGluLysLysThrAlaLeu)
|
rs1363262432
|
0.00001
|
NM_006031.6(PCNT):c.3202G>T (p.Glu1068Ter)
|
rs1215854055
|
0.00001
|
NM_006031.6(PCNT):c.3390G>A (p.Arg1130=)
|
rs775858868
|
0.00001
|
NM_006031.6(PCNT):c.3443T>C (p.Val1148Ala)
|
rs762148129
|
0.00001
|
NM_006031.6(PCNT):c.3465-10C>T
|
rs375839439
|
0.00001
|
NM_006031.6(PCNT):c.3532A>G (p.Thr1178Ala)
|
rs1389951479
|
0.00001
|
NM_006031.6(PCNT):c.3594_3598dup (p.Leu1200fs)
|
rs869312929
|
0.00001
|
NM_006031.6(PCNT):c.3626C>T (p.Thr1209Ile)
|
rs772421309
|
0.00001
|
NM_006031.6(PCNT):c.3698A>C (p.Glu1233Ala)
|
rs199787861
|
0.00001
|
NM_006031.6(PCNT):c.3715C>T (p.Arg1239Cys)
|
rs777189669
|
0.00001
|
NM_006031.6(PCNT):c.3795G>A (p.Leu1265=)
|
rs761411121
|
0.00001
|
NM_006031.6(PCNT):c.3798C>T (p.Ala1266=)
|
rs769080650
|
0.00001
|
NM_006031.6(PCNT):c.3840G>C (p.Gln1280His)
|
rs1569239749
|
0.00001
|
NM_006031.6(PCNT):c.3854G>A (p.Arg1285His)
|
rs749730475
|
0.00001
|
NM_006031.6(PCNT):c.3924G>A (p.Lys1308=)
|
rs139543323
|
0.00001
|
NM_006031.6(PCNT):c.393G>A (p.Gly131=)
|
rs752365337
|
0.00001
|
NM_006031.6(PCNT):c.3963A>C (p.Ala1321=)
|
rs1269271029
|
0.00001
|
NM_006031.6(PCNT):c.3992A>G (p.His1331Arg)
|
rs34012939
|
0.00001
|
NM_006031.6(PCNT):c.4104G>C (p.Leu1368=)
|
rs372049859
|
0.00001
|
NM_006031.6(PCNT):c.4143G>A (p.Ala1381=)
|
rs111697920
|
0.00001
|
NM_006031.6(PCNT):c.4175G>A (p.Arg1392Gln)
|
rs587784304
|
0.00001
|
NM_006031.6(PCNT):c.4176G>C (p.Arg1392=)
|
rs767908478
|
0.00001
|
NM_006031.6(PCNT):c.4264A>G (p.Arg1422Gly)
|
rs752416084
|
0.00001
|
NM_006031.6(PCNT):c.4311G>T (p.Lys1437Asn)
|
rs765190339
|
0.00001
|
NM_006031.6(PCNT):c.4386C>T (p.Ala1462=)
|
rs765908073
|
0.00001
|
NM_006031.6(PCNT):c.4459G>A (p.Glu1487Lys)
|
rs368525476
|
0.00001
|
NM_006031.6(PCNT):c.4462C>T (p.Arg1488Trp)
|
rs371945746
|
0.00001
|
NM_006031.6(PCNT):c.4535C>T (p.Pro1512Leu)
|
rs916821322
|
0.00001
|
NM_006031.6(PCNT):c.4552C>T (p.Arg1518Cys)
|
rs763712724
|
0.00001
|
NM_006031.6(PCNT):c.4563+15C>T
|
rs1234384421
|
0.00001
|
NM_006031.6(PCNT):c.4564-20C>T
|
rs745809500
|
0.00001
|
NM_006031.6(PCNT):c.4576G>A (p.Asp1526Asn)
|
rs886042852
|
0.00001
|
NM_006031.6(PCNT):c.4585-10G>C
|
rs530752009
|
0.00001
|
NM_006031.6(PCNT):c.4585-3T>C
|
rs777059690
|
0.00001
|
NM_006031.6(PCNT):c.459A>G (p.Pro153=)
|
rs570419067
|
0.00001
|
NM_006031.6(PCNT):c.4642A>G (p.Ile1548Val)
|
rs766280665
|
0.00001
|
NM_006031.6(PCNT):c.4681G>A (p.Glu1561Lys)
|
rs781526777
|
0.00001
|
NM_006031.6(PCNT):c.4684G>C (p.Glu1562Gln)
|
rs981076771
|
0.00001
|
NM_006031.6(PCNT):c.4697G>A (p.Arg1566His)
|
rs776095839
|
0.00001
|
NM_006031.6(PCNT):c.4699C>T (p.Leu1567=)
|
rs770168931
|
0.00001
|
NM_006031.6(PCNT):c.4821G>T (p.Met1607Ile)
|
rs147398973
|
0.00001
|
NM_006031.6(PCNT):c.4835T>C (p.Leu1612Pro)
|
rs1296500904
|
0.00001
|
NM_006031.6(PCNT):c.4863T>G (p.Asp1621Glu)
|
rs775246257
|
0.00001
|
NM_006031.6(PCNT):c.4949G>A (p.Arg1650Gln)
|
rs982539653
|
0.00001
|
NM_006031.6(PCNT):c.4953C>T (p.Arg1651=)
|
rs760142269
|
0.00001
|
NM_006031.6(PCNT):c.49A>G (p.Thr17Ala)
|
rs1055522433
|
0.00001
|
NM_006031.6(PCNT):c.5105C>T (p.Thr1702Met)
|
rs768063203
|
0.00001
|
NM_006031.6(PCNT):c.517A>G (p.Thr173Ala)
|
rs535358423
|
0.00001
|
NM_006031.6(PCNT):c.5283C>T (p.His1761=)
|
rs763259541
|
0.00001
|
NM_006031.6(PCNT):c.5350C>T (p.Arg1784Cys)
|
rs776352984
|
0.00001
|
NM_006031.6(PCNT):c.5385G>A (p.Ala1795=)
|
rs371295884
|
0.00001
|
NM_006031.6(PCNT):c.5395A>T (p.Lys1799Ter)
|
rs199566483
|
0.00001
|
NM_006031.6(PCNT):c.54+14G>A
|
rs368614001
|
0.00001
|
NM_006031.6(PCNT):c.5402C>A (p.Ala1801Asp)
|
rs759289691
|
0.00001
|
NM_006031.6(PCNT):c.5411G>A (p.Arg1804Gln)
|
rs762385391
|
0.00001
|
NM_006031.6(PCNT):c.5432G>A (p.Arg1811His)
|
rs769452431
|
0.00001
|
NM_006031.6(PCNT):c.5449C>T (p.Leu1817=)
|
rs571289721
|
0.00001
|
NM_006031.6(PCNT):c.5543A>G (p.Glu1848Gly)
|
rs201943167
|
0.00001
|
NM_006031.6(PCNT):c.5583G>A (p.Ala1861=)
|
rs770667557
|
0.00001
|
NM_006031.6(PCNT):c.5606C>T (p.Thr1869Met)
|
rs775982969
|
0.00001
|
NM_006031.6(PCNT):c.5613C>T (p.Ala1871=)
|
rs764625701
|
0.00001
|
NM_006031.6(PCNT):c.5636C>G (p.Ala1879Gly)
|
rs1352792544
|
0.00001
|
NM_006031.6(PCNT):c.5709C>T (p.Arg1903=)
|
rs774766182
|
0.00001
|
NM_006031.6(PCNT):c.5737G>A (p.Gly1913Arg)
|
rs776924524
|
0.00001
|
NM_006031.6(PCNT):c.5756T>C (p.Leu1919Pro)
|
rs755667206
|
0.00001
|
NM_006031.6(PCNT):c.5767C>T (p.Arg1923Ter)
|
rs119479062
|
0.00001
|
NM_006031.6(PCNT):c.5919C>T (p.Gly1973=)
|
rs752349556
|
0.00001
|
NM_006031.6(PCNT):c.5975C>T (p.Pro1992Leu)
|
rs758977418
|
0.00001
|
NM_006031.6(PCNT):c.5976G>A (p.Pro1992=)
|
rs1017180528
|
0.00001
|
NM_006031.6(PCNT):c.6044A>G (p.Lys2015Arg)
|
rs1297236046
|
0.00001
|
NM_006031.6(PCNT):c.6088C>T (p.Leu2030=)
|
rs1446531561
|
0.00001
|
NM_006031.6(PCNT):c.6100C>T (p.Leu2034=)
|
rs1346863140
|
0.00001
|
NM_006031.6(PCNT):c.6124C>T (p.Arg2042Cys)
|
rs751776662
|
0.00001
|
NM_006031.6(PCNT):c.6150+6G>A
|
rs369584693
|
0.00001
|
NM_006031.6(PCNT):c.6162_6163del (p.Lys2054fs)
|
rs778391726
|
0.00001
|
NM_006031.6(PCNT):c.6185C>T (p.Pro2062Leu)
|
rs376147151
|
0.00001
|
NM_006031.6(PCNT):c.6192C>T (p.Val2064=)
|
rs1229663143
|
0.00001
|
NM_006031.6(PCNT):c.6281C>G (p.Thr2094Ser)
|
rs1426784720
|
0.00001
|
NM_006031.6(PCNT):c.6349G>A (p.Gly2117Arg)
|
rs749897159
|
0.00001
|
NM_006031.6(PCNT):c.6390T>C (p.Asp2130=)
|
rs1179241242
|
0.00001
|
NM_006031.6(PCNT):c.6412dup (p.Val2138fs)
|
rs746584417
|
0.00001
|
NM_006031.6(PCNT):c.6447G>A (p.Ala2149=)
|
rs763122571
|
0.00001
|
NM_006031.6(PCNT):c.6586G>A (p.Val2196Ile)
|
rs375143479
|
0.00001
|
NM_006031.6(PCNT):c.6590T>C (p.Leu2197Pro)
|
rs369420036
|
0.00001
|
NM_006031.6(PCNT):c.6754A>G (p.Ser2252Gly)
|
rs886057190
|
0.00001
|
NM_006031.6(PCNT):c.6894C>T (p.Asp2298=)
|
rs746661597
|
0.00001
|
NM_006031.6(PCNT):c.6921+11G>C
|
rs772210169
|
0.00001
|
NM_006031.6(PCNT):c.6966A>G (p.Gln2322=)
|
rs755460323
|
0.00001
|
NM_006031.6(PCNT):c.6983C>T (p.Pro2328Leu)
|
rs747212974
|
0.00001
|
NM_006031.6(PCNT):c.7104T>C (p.Pro2368=)
|
rs576187743
|
0.00001
|
NM_006031.6(PCNT):c.7111A>G (p.Ile2371Val)
|
rs770416863
|
0.00001
|
NM_006031.6(PCNT):c.7230A>G (p.Ser2410=)
|
rs1292668105
|
0.00001
|
NM_006031.6(PCNT):c.7255G>A (p.Glu2419Lys)
|
rs750214590
|
0.00001
|
NM_006031.6(PCNT):c.7321-10C>T
|
rs587784318
|
0.00001
|
NM_006031.6(PCNT):c.7342G>A (p.Asp2448Asn)
|
rs748347210
|
0.00001
|
NM_006031.6(PCNT):c.7528C>T (p.Arg2510Cys)
|
rs146486696
|
0.00001
|
NM_006031.6(PCNT):c.7557C>T (p.Ser2519=)
|
rs1296234306
|
0.00001
|
NM_006031.6(PCNT):c.7574G>A (p.Arg2525His)
|
rs940897400
|
0.00001
|
NM_006031.6(PCNT):c.7588A>G (p.Met2530Val)
|
rs749686283
|
0.00001
|
NM_006031.6(PCNT):c.7593G>A (p.Thr2531=)
|
rs372531708
|
0.00001
|
NM_006031.6(PCNT):c.7644C>T (p.Ser2548=)
|
rs369949793
|
0.00001
|
NM_006031.6(PCNT):c.7699C>T (p.Leu2567=)
|
rs766025734
|
0.00001
|
NM_006031.6(PCNT):c.7836C>T (p.Asp2612=)
|
rs757858684
|
0.00001
|
NM_006031.6(PCNT):c.7950C>T (p.Ala2650=)
|
rs777255057
|
0.00001
|
NM_006031.6(PCNT):c.7966G>C (p.Glu2656Gln)
|
rs981766239
|
0.00001
|
NM_006031.6(PCNT):c.8065-1G>C
|
rs1450352574
|
0.00001
|
NM_006031.6(PCNT):c.8106T>A (p.Ser2702Arg)
|
rs752649239
|
0.00001
|
NM_006031.6(PCNT):c.8289C>T (p.His2763=)
|
rs767100231
|
0.00001
|
NM_006031.6(PCNT):c.8325A>G (p.Thr2775=)
|
rs776706307
|
0.00001
|
NM_006031.6(PCNT):c.8352A>G (p.Thr2784=)
|
rs753399184
|
0.00001
|
NM_006031.6(PCNT):c.8496G>A (p.Ala2832=)
|
rs749568356
|
0.00001
|
NM_006031.6(PCNT):c.862C>T (p.Arg288Cys)
|
rs781317079
|
0.00001
|
NM_006031.6(PCNT):c.8641C>T (p.Arg2881Trp)
|
rs766529116
|
0.00001
|
NM_006031.6(PCNT):c.8679G>C (p.Arg2893Ser)
|
rs748806254
|
0.00001
|
NM_006031.6(PCNT):c.8712G>A (p.Ala2904=)
|
rs767301271
|
0.00001
|
NM_006031.6(PCNT):c.874C>G (p.Leu292Val)
|
rs762961416
|
0.00001
|
NM_006031.6(PCNT):c.8751+12C>A
|
rs1405538473
|
0.00001
|
NM_006031.6(PCNT):c.8751+16C>T
|
rs747366106
|
0.00001
|
NM_006031.6(PCNT):c.8752C>T (p.Arg2918Ter)
|
rs119479064
|
0.00001
|
NM_006031.6(PCNT):c.8770C>T (p.Arg2924Cys)
|
rs559208618
|
0.00001
|
NM_006031.6(PCNT):c.8771G>A (p.Arg2924His)
|
rs139830890
|
0.00001
|
NM_006031.6(PCNT):c.885A>G (p.Leu295=)
|
rs769171675
|
0.00001
|
NM_006031.6(PCNT):c.8868dup (p.Ala2957fs)
|
rs587784320
|
0.00001
|
NM_006031.6(PCNT):c.8917C>T (p.Arg2973Ter)
|
rs587784321
|
0.00001
|
NM_006031.6(PCNT):c.8957C>T (p.Ala2986Val)
|
rs201069257
|
0.00001
|
NM_006031.6(PCNT):c.8989G>A (p.Val2997Met)
|
rs781469305
|
0.00001
|
NM_006031.6(PCNT):c.8997-9T>C
|
rs529504851
|
0.00001
|
NM_006031.6(PCNT):c.9090C>T (p.Thr3030=)
|
rs942925965
|
0.00001
|
NM_006031.6(PCNT):c.9100-18T>C
|
rs772609834
|
0.00001
|
NM_006031.6(PCNT):c.9183G>A (p.Thr3061=)
|
rs747455040
|
0.00001
|
NM_006031.6(PCNT):c.9212G>A (p.Arg3071Lys)
|
rs1455899311
|
0.00001
|
NM_006031.6(PCNT):c.9250C>G (p.Leu3084Val)
|
rs760545245
|
0.00001
|
NM_006031.6(PCNT):c.9539T>G (p.Phe3180Cys)
|
rs1343505317
|
0.00001
|
NM_006031.6(PCNT):c.9593C>T (p.Thr3198Met)
|
rs543002268
|
0.00001
|
NM_006031.6(PCNT):c.9628C>T (p.Arg3210Cys)
|
rs374027088
|
0.00001
|
NM_006031.6(PCNT):c.9694C>T (p.Arg3232Cys)
|
rs537151957
|
0.00001
|
NM_006031.6(PCNT):c.976+4C>G
|
rs1380660060
|
0.00001
|
NM_006031.6(PCNT):c.9842C>T (p.Ala3281Val)
|
rs988693930
|
0.00001
|
GRCh37/hg19 21q22.3(chr21:47801930-47810736)x0
|
|
|
GRCh37/hg19 21q22.3(chr21:47801930-47811272)x0
|
|
|
GRCh37/hg19 21q22.3(chr21:47809383-47854022)x3
|
|
|
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
|
|
|
NC_000021.8:g.(?_47831083)_(47842058_?)dup
|
|
|
NC_000021.8:g.(?_47848289)_(47865240_?)dup
|
|
|
NC_000021.8:g.(?_47850401)_(47865240_?)del
|
|
|
NC_000021.8:g.(?_47859976)_(47862506_?)del
|
|
|
NC_000021.9:g.46363480del
|
|
|
NM_006031.5(PCNT):c.*451G>A
|
rs897212255
|
|
NM_006031.6(PCNT):c.*101T>G
|
rs138450666
|
|
NM_006031.6(PCNT):c.*221C>G
|
rs1013799749
|
|
NM_006031.6(PCNT):c.*225G>A
|
rs528999705
|
|
NM_006031.6(PCNT):c.*22del
|
rs777390900
|
|
NM_006031.6(PCNT):c.*318A>G
|
rs1242193691
|
|
NM_006031.6(PCNT):c.*343_*346del
|
rs145379994
|
|
NM_006031.6(PCNT):c.*391_*396del
|
rs377311069
|
|
NM_006031.6(PCNT):c.*8G>A
|
|
|
NM_006031.6(PCNT):c.-6A>T
|
|
|
NM_006031.6(PCNT):c.10000dup (p.Ile3334fs)
|
|
|
NM_006031.6(PCNT):c.10008G>A (p.Gln3336=)
|
|
|
NM_006031.6(PCNT):c.1000T>A (p.Ser334Thr)
|
rs772659788
|
|
NM_006031.6(PCNT):c.1002A>G (p.Ser334=)
|
|
|
NM_006031.6(PCNT):c.1017C>T (p.Asn339=)
|
|
|
NM_006031.6(PCNT):c.1032+11T>A
|
|
|
NM_006031.6(PCNT):c.1032+13G>A
|
|
|
NM_006031.6(PCNT):c.1032+141T>C
|
rs117843059
|
|
NM_006031.6(PCNT):c.1032+17C>G
|
|
|
NM_006031.6(PCNT):c.1032+1G>A
|
rs1569178877
|
|
NM_006031.6(PCNT):c.1032+7G>A
|
rs774010817
|
|
NM_006031.6(PCNT):c.1032+9G>C
|
|
|
NM_006031.6(PCNT):c.1032+9del
|
|
|
NM_006031.6(PCNT):c.1033-12_1033-9del
|
|
|
NM_006031.6(PCNT):c.1033-15_1033-13del
|
|
|
NM_006031.6(PCNT):c.1033-19T>A
|
|
|
NM_006031.6(PCNT):c.1033-20T>G
|
|
|
NM_006031.6(PCNT):c.1033-7A>C
|
|
|
NM_006031.6(PCNT):c.1033-7A>T
|
rs1214767120
|
|
NM_006031.6(PCNT):c.1034C>T (p.Thr345Ile)
|
|
|
NM_006031.6(PCNT):c.1059A>G (p.Glu353=)
|
|
|
NM_006031.6(PCNT):c.1066T>C (p.Leu356=)
|
|
|
NM_006031.6(PCNT):c.1081C>T (p.Leu361=)
|
|
|
NM_006031.6(PCNT):c.1083A>G (p.Leu361=)
|
rs758561093
|
|
NM_006031.6(PCNT):c.1095G>A (p.Leu365=)
|
|
|
NM_006031.6(PCNT):c.1104G>A (p.Lys368=)
|
|
|
NM_006031.6(PCNT):c.1113A>G (p.Ser371=)
|
|
|
NM_006031.6(PCNT):c.1114G>T (p.Glu372Ter)
|
|
|
NM_006031.6(PCNT):c.1118T>C (p.Met373Thr)
|
|
|
NM_006031.6(PCNT):c.1122G>A (p.Glu374=)
|
|
|
NM_006031.6(PCNT):c.1147G>T (p.Glu383Ter)
|
|
|
NM_006031.6(PCNT):c.1167T>A (p.Ala389=)
|
|
|
NM_006031.6(PCNT):c.1168G>T (p.Glu390Ter)
|
|
|
NM_006031.6(PCNT):c.1169A>G (p.Glu390Gly)
|
|
|
NM_006031.6(PCNT):c.1171T>C (p.Leu391=)
|
|
|
NM_006031.6(PCNT):c.1171T>G (p.Leu391Val)
|
|
|
NM_006031.6(PCNT):c.1173G>A (p.Leu391=)
|
|
|
NM_006031.6(PCNT):c.1179G>A (p.Lys393=)
|
|
|
NM_006031.6(PCNT):c.1180A>G (p.Ile394Val)
|
rs2146590047
|
|
NM_006031.6(PCNT):c.1201G>T (p.Ala401Ser)
|
|
|
NM_006031.6(PCNT):c.1203T>C (p.Ala401=)
|
|
|
NM_006031.6(PCNT):c.1207+18G>A
|
|
|
NM_006031.6(PCNT):c.1207C>T (p.Arg403Trp)
|
|
|
NM_006031.6(PCNT):c.1208-16T>C
|
|
|
NM_006031.6(PCNT):c.1208-18A>T
|
|
|
NM_006031.6(PCNT):c.1208-20C>T
|
|
|
NM_006031.6(PCNT):c.1208-4C>G
|
|
|
NM_006031.6(PCNT):c.1208-8C>G
|
rs2146597883
|
|
NM_006031.6(PCNT):c.1208-9C>T
|
|
|
NM_006031.6(PCNT):c.1209G>A (p.Arg403=)
|
|
|
NM_006031.6(PCNT):c.1229G>A (p.Ser410Asn)
|
|
|
NM_006031.6(PCNT):c.1239A>G (p.Gln413=)
|
|
|
NM_006031.6(PCNT):c.1241C>T (p.Ala414Val)
|
rs2084199246
|
|
NM_006031.6(PCNT):c.1248T>C (p.Ile416=)
|
|
|
NM_006031.6(PCNT):c.1259G>A (p.Arg420His)
|
|
|
NM_006031.6(PCNT):c.1266C>T (p.Asp422=)
|
|
|
NM_006031.6(PCNT):c.1275C>T (p.Ser425=)
|
|
|
NM_006031.6(PCNT):c.1278G>A (p.Glu426=)
|
rs773448951
|
|
NM_006031.6(PCNT):c.1278G>T (p.Glu426Asp)
|
|
|
NM_006031.6(PCNT):c.1284C>A (p.Gly428=)
|
|
|
NM_006031.6(PCNT):c.1287G>A (p.Arg429=)
|
|
|
NM_006031.6(PCNT):c.1300T>C (p.Leu434=)
|
rs1384003964
|
|
NM_006031.6(PCNT):c.1320G>A (p.Glu440=)
|
|
|
NM_006031.6(PCNT):c.1321_1322del (p.Ser441fs)
|
|
|
NM_006031.6(PCNT):c.1323C>T (p.Ser441=)
|
|
|
NM_006031.6(PCNT):c.1329A>G (p.Lys443=)
|
|
|
NM_006031.6(PCNT):c.1330G>C (p.Glu444Gln)
|
|
|
NM_006031.6(PCNT):c.1334_1335del (p.Lys445fs)
|
|
|
NM_006031.6(PCNT):c.1344+15C>T
|
|
|
NM_006031.6(PCNT):c.1344+16G>C
|
|
|
NM_006031.6(PCNT):c.1344+17T>A
|
|
|
NM_006031.6(PCNT):c.1344+18T>G
|
|
|
NM_006031.6(PCNT):c.1344+2T>C
|
|
|
NM_006031.6(PCNT):c.1345-12T>C
|
|
|
NM_006031.6(PCNT):c.1345-14T>C
|
|
|
NM_006031.6(PCNT):c.1345-16A>G
|
|
|
NM_006031.6(PCNT):c.1345-1G>T
|
|
|
NM_006031.6(PCNT):c.1345-20G>A
|
|
|
NM_006031.6(PCNT):c.1345-20G>C
|
|
|
NM_006031.6(PCNT):c.1345-5del
|
|
|
NM_006031.6(PCNT):c.1359A>G (p.Gln453=)
|
|
|
NM_006031.6(PCNT):c.1364C>T (p.Ser455Leu)
|
|
|
NM_006031.6(PCNT):c.1367A>G (p.Tyr456Cys)
|
|
|
NM_006031.6(PCNT):c.1368T>C (p.Tyr456=)
|
|
|
NM_006031.6(PCNT):c.1374C>T (p.Asp458=)
|
|
|
NM_006031.6(PCNT):c.1375C>T (p.Leu459=)
|
|
|
NM_006031.6(PCNT):c.1380G>A (p.Lys460=)
|
rs1555953192
|
|
NM_006031.6(PCNT):c.1386A>G (p.Gln462=)
|
|
|
NM_006031.6(PCNT):c.1388C>G (p.Ser463Ter)
|
|
|
NM_006031.6(PCNT):c.1390C>T (p.Gln464Ter)
|
|
|
NM_006031.6(PCNT):c.1393G>A (p.Glu465Lys)
|
rs1555953206
|
|
NM_006031.6(PCNT):c.1396G>A (p.Glu466Lys)
|
rs2084269624
|
|
NM_006031.6(PCNT):c.1407C>G (p.Arg469=)
|
|
|
NM_006031.6(PCNT):c.1407C>T (p.Arg469=)
|
|
|
NM_006031.6(PCNT):c.1417C>T (p.Gln473Ter)
|
|
|
NM_006031.6(PCNT):c.1419G>A (p.Gln473=)
|
|
|
NM_006031.6(PCNT):c.1430C>T (p.Ala477Val)
|
|
|
NM_006031.6(PCNT):c.1435del (p.Thr479fs)
|
rs2084270803
|
|
NM_006031.6(PCNT):c.1438A>G (p.Ser480Gly)
|
|
|
NM_006031.6(PCNT):c.1444C>T (p.Gln482Ter)
|
rs2146626308
|
|
NM_006031.6(PCNT):c.1447G>A (p.Glu483Lys)
|
|
|
NM_006031.6(PCNT):c.1449A>G (p.Glu483=)
|
|
|
NM_006031.6(PCNT):c.1454del (p.Ser485fs)
|
|
|
NM_006031.6(PCNT):c.1456+11G>A
|
|
|
NM_006031.6(PCNT):c.1456+11G>T
|
|
|
NM_006031.6(PCNT):c.1456+18A>G
|
|
|
NM_006031.6(PCNT):c.1457-10T>C
|
|
|
NM_006031.6(PCNT):c.1457-12G>A
|
rs756968448
|
|
NM_006031.6(PCNT):c.1457-12G>C
|
|
|
NM_006031.6(PCNT):c.1457-13C>G
|
|
|
NM_006031.6(PCNT):c.1457-13C>T
|
|
|
NM_006031.6(PCNT):c.1457-20C>G
|
|
|
NM_006031.6(PCNT):c.1457-20C>T
|
|
|
NM_006031.6(PCNT):c.1457-250C>A
|
rs58936150
|
|
NM_006031.6(PCNT):c.1457-7G>A
|
|
|
NM_006031.6(PCNT):c.1457-7G>T
|
|
|
NM_006031.6(PCNT):c.1457-8T>C
|
|
|
NM_006031.6(PCNT):c.1458G>A (p.Glu486=)
|
|
|
NM_006031.6(PCNT):c.1467G>A (p.Glu489=)
|
|
|
NM_006031.6(PCNT):c.1467del (p.Glu489fs)
|
|
|
NM_006031.6(PCNT):c.1480C>T (p.Arg494Cys)
|
|
|
NM_006031.6(PCNT):c.1481G>C (p.Arg494Pro)
|
|
|
NM_006031.6(PCNT):c.1483A>G (p.Thr495Ala)
|
rs2084338403
|
|
NM_006031.6(PCNT):c.1489C>A (p.Arg497Ser)
|
rs371251124
|
|
NM_006031.6(PCNT):c.1491T>C (p.Arg497=)
|
|
|
NM_006031.6(PCNT):c.1504G>A (p.Glu502Lys)
|
|
|
NM_006031.6(PCNT):c.1507C>T (p.Gln503Ter)
|
rs1555954069
|
|
NM_006031.6(PCNT):c.1519C>T (p.Arg507Ter)
|
rs138036524
|
|
NM_006031.6(PCNT):c.1528dup (p.Thr510fs)
|
rs1369869782
|
|
NM_006031.6(PCNT):c.1538A>T (p.Glu513Val)
|
rs2146654182
|
|
NM_006031.6(PCNT):c.1542C>A (p.Ser514=)
|
rs2249057
|
|
NM_006031.6(PCNT):c.1542C>G (p.Ser514=)
|
|
|
NM_006031.6(PCNT):c.1542C>T (p.Ser514=)
|
rs2249057
|
|
NM_006031.6(PCNT):c.1550dup (p.Gln518fs)
|
rs2146654353
|
|
NM_006031.6(PCNT):c.1552C>A (p.Gln518Lys)
|
|
|
NM_006031.6(PCNT):c.1560G>A (p.Arg520=)
|
|
|
NM_006031.6(PCNT):c.1584G>C (p.Arg528Ser)
|
|
|
NM_006031.6(PCNT):c.1585G>C (p.Asp529His)
|
|
|
NM_006031.6(PCNT):c.1586A>G (p.Asp529Gly)
|
rs2084341884
|
|
NM_006031.6(PCNT):c.1614A>T (p.Leu538=)
|
|
|
NM_006031.6(PCNT):c.1618C>T (p.Leu540=)
|
|
|
NM_006031.6(PCNT):c.1621T>C (p.Leu541=)
|
|
|
NM_006031.6(PCNT):c.1629G>A (p.Gln543=)
|
|
|
NM_006031.6(PCNT):c.1637del (p.Gln546fs)
|
rs2146655550
|
|
NM_006031.6(PCNT):c.1640G>A (p.Gly547Glu)
|
rs1057522262
|
|
NM_006031.6(PCNT):c.1644G>A (p.Ala548=)
|
|
|
NM_006031.6(PCNT):c.1656T>A (p.Ala552=)
|
|
|
NM_006031.6(PCNT):c.1665C>T (p.Asp555=)
|
|
|
NM_006031.6(PCNT):c.1670_1671del (p.Val557fs)
|
|
|
NM_006031.6(PCNT):c.1679+14T>C
|
|
|
NM_006031.6(PCNT):c.1679+16C>T
|
|
|
NM_006031.6(PCNT):c.1679+17C>T
|
|
|
NM_006031.6(PCNT):c.1679+17del
|
|
|
NM_006031.6(PCNT):c.1679+1G>A
|
|
|
NM_006031.6(PCNT):c.1679+224C>G
|
rs115924763
|
|
NM_006031.6(PCNT):c.1679+314GT[3]
|
rs147389000
|
|
NM_006031.6(PCNT):c.1679+4A>G
|
|
|
NM_006031.6(PCNT):c.1680-1G>C
|
|
|
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_1680-234insTGAG
|
rs59894003
|
|
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[20]
|
rs72175446
|
|
NM_006031.6(PCNT):c.1680-271GT[22]
|
rs72175446
|
|
NM_006031.6(PCNT):c.1680-2A>G
|
rs1555954786
|
|
NM_006031.6(PCNT):c.1680-6C>T
|
|
|
NM_006031.6(PCNT):c.1680-7C>T
|
|
|
NM_006031.6(PCNT):c.1680G>A (p.Gly560=)
|
|
|
NM_006031.6(PCNT):c.1686C>T (p.Ser562=)
|
|
|
NM_006031.6(PCNT):c.1698A>G (p.Leu566=)
|
|
|
NM_006031.6(PCNT):c.1704G>A (p.Glu568=)
|
|
|
NM_006031.6(PCNT):c.1714_1717del (p.Lys572fs)
|
rs797045875
|
|
NM_006031.6(PCNT):c.1716A>G (p.Lys572=)
|
rs138617654
|
|
NM_006031.6(PCNT):c.1716A>T (p.Lys572Asn)
|
rs138617654
|
|
NM_006031.6(PCNT):c.1719A>G (p.Gly573=)
|
|
|
NM_006031.6(PCNT):c.1727A>T (p.Asp576Val)
|
|
|
NM_006031.6(PCNT):c.1729C>A (p.His577Asn)
|
|
|
NM_006031.6(PCNT):c.1729C>T (p.His577Tyr)
|
|
|
NM_006031.6(PCNT):c.1731C>T (p.His577=)
|
|
|
NM_006031.6(PCNT):c.1732G>A (p.Val578Ile)
|
rs370083877
|
|
NM_006031.6(PCNT):c.1732G>T (p.Val578Phe)
|
rs370083877
|
|
NM_006031.6(PCNT):c.174_180dup (p.Ser61fs)
|
|
|
NM_006031.6(PCNT):c.1753C>T (p.Arg585Ter)
|
|
|
NM_006031.6(PCNT):c.175G>A (p.Glu59Lys)
|
rs797045876
|
|
NM_006031.6(PCNT):c.1761+10C>T
|
|
|
NM_006031.6(PCNT):c.1761+11G>A
|
|
|
NM_006031.6(PCNT):c.1761+12C>T
|
|
|
NM_006031.6(PCNT):c.1761+14C>G
|
|
|
NM_006031.6(PCNT):c.1761+15G>A
|
|
|
NM_006031.6(PCNT):c.1761+19A>G
|
|
|
NM_006031.6(PCNT):c.1761+20G>T
|
|
|
NM_006031.6(PCNT):c.1761+270=
|
rs35539251
|
|
NM_006031.6(PCNT):c.1762-14_1762-13insTAGT
|
rs771981795
|
|
NM_006031.6(PCNT):c.1762-15G>A
|
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|
NM_006031.6(PCNT):c.1762-15G>C
|
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|
NM_006031.6(PCNT):c.1762-20C>T
|
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|
NM_006031.6(PCNT):c.1762-6C>G
|
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|
NM_006031.6(PCNT):c.1762-6C>T
|
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|
NM_006031.6(PCNT):c.1779C>T (p.Phe593=)
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|
|
NM_006031.6(PCNT):c.177G>A (p.Glu59=)
|
|
|
NM_006031.6(PCNT):c.1782G>T (p.Gln594His)
|
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|
NM_006031.6(PCNT):c.1785G>A (p.Ala595=)
|
|
|
NM_006031.6(PCNT):c.1786G>A (p.Glu596Lys)
|
rs2084438681
|
|
NM_006031.6(PCNT):c.1803C>T (p.His601=)
|
|
|
NM_006031.6(PCNT):c.1813C>G (p.Leu605Val)
|
rs2084439675
|
|
NM_006031.6(PCNT):c.1813C>T (p.Leu605=)
|
|
|
NM_006031.6(PCNT):c.1821G>C (p.Ala607=)
|
|
|
NM_006031.6(PCNT):c.1821G>T (p.Ala607=)
|
|
|
NM_006031.6(PCNT):c.1822C>T (p.Leu608=)
|
|
|
NM_006031.6(PCNT):c.1825G>C (p.Glu609Gln)
|
rs529457692
|
|
NM_006031.6(PCNT):c.1833C>T (p.Pro611=)
|
|
|
NM_006031.6(PCNT):c.1837dup (p.Cys613fs)
|
|
|
NM_006031.6(PCNT):c.183C>T (p.Ser61=)
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|
NM_006031.6(PCNT):c.1842C>T (p.Ile614=)
|
|
|
NM_006031.6(PCNT):c.1843C>T (p.Gln615Ter)
|
rs777830265
|
|
NM_006031.6(PCNT):c.1848C>T (p.His616=)
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|
|
NM_006031.6(PCNT):c.1851G>A (p.Glu617=)
|
|
|
NM_006031.6(PCNT):c.1854G>A (p.Gly618=)
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|
NM_006031.6(PCNT):c.1875C>T (p.Cys625=)
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|
|
NM_006031.6(PCNT):c.1885_1886delinsAA (p.Ser629Lys)
|
rs1555955867
|
|
NM_006031.6(PCNT):c.1887del (p.Ala630fs)
|
rs397509366
|
|
NM_006031.6(PCNT):c.1891T>C (p.Leu631=)
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|
|
NM_006031.6(PCNT):c.189C>G (p.Leu63=)
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|
NM_006031.6(PCNT):c.189C>T (p.Leu63=)
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|
NM_006031.6(PCNT):c.1900G>A (p.Glu634Lys)
|
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|
NM_006031.6(PCNT):c.1907G>A (p.Arg636His)
|
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|
NM_006031.6(PCNT):c.1907G>T (p.Arg636Leu)
|
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|
NM_006031.6(PCNT):c.1920T>C (p.Ser640=)
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|
NM_006031.6(PCNT):c.1936+13C>G
|
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|
NM_006031.6(PCNT):c.1936+13C>T
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|
NM_006031.6(PCNT):c.1936+14G>A
|
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|
NM_006031.6(PCNT):c.1936+14G>C
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|
NM_006031.6(PCNT):c.1936+18C>T
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|
NM_006031.6(PCNT):c.1936+19G>A
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|
NM_006031.6(PCNT):c.1937-14C>T
|
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|
NM_006031.6(PCNT):c.1937-16C>A
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|
NM_006031.6(PCNT):c.1937-17G>C
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|
NM_006031.6(PCNT):c.1937-1G>C
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|
NM_006031.6(PCNT):c.1937-7C>G
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|
NM_006031.6(PCNT):c.1937-7C>T
|
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|
NM_006031.6(PCNT):c.1938G>C (p.Glu646Asp)
|
|
|
NM_006031.6(PCNT):c.1942C>T (p.Pro648Ser)
|
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|
NM_006031.6(PCNT):c.1948G>A (p.Val650Met)
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|
|
NM_006031.6(PCNT):c.1958_2154+31del
|
|
|
NM_006031.6(PCNT):c.1965G>A (p.Val655=)
|
rs1601825062
|
|
NM_006031.6(PCNT):c.196G>T (p.Gly66Ter)
|
rs587779355
|
|
NM_006031.6(PCNT):c.1971C>G (p.Asp657Glu)
|
rs150892737
|
|
NM_006031.6(PCNT):c.1971C>T (p.Asp657=)
|
|
|
NM_006031.6(PCNT):c.1975dup (p.Asp659fs)
|
rs1555956600
|
|
NM_006031.6(PCNT):c.1980G>A (p.Leu660=)
|
|
|
NM_006031.6(PCNT):c.1986C>T (p.Ala662=)
|
|
|
NM_006031.6(PCNT):c.1989C>T (p.Asp663=)
|
|
|
NM_006031.6(PCNT):c.1995G>A (p.Glu665=)
|
|
|
NM_006031.6(PCNT):c.1996C>T (p.Arg666Trp)
|
rs774325418
|
|
NM_006031.6(PCNT):c.1997G>C (p.Arg666Pro)
|
|
|
NM_006031.6(PCNT):c.1998G>A (p.Arg666=)
|
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|
NM_006031.6(PCNT):c.2005A>C (p.Arg669=)
|
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|
NM_006031.6(PCNT):c.2010C>G (p.Val670=)
|
|
|
NM_006031.6(PCNT):c.2019G>A (p.Leu673=)
|
rs868039816
|
|
NM_006031.6(PCNT):c.2022A>G (p.Glu674=)
|
rs2146725506
|
|
NM_006031.6(PCNT):c.202G>C (p.Asp68His)
|
rs1216804302
|
|
NM_006031.6(PCNT):c.2036_2037dup (p.Gln680fs)
|
|
|
NM_006031.6(PCNT):c.2046G>A (p.Ser682=)
|
|
|
NM_006031.6(PCNT):c.204C>T (p.Asp68=)
|
|
|
NM_006031.6(PCNT):c.2055G>A (p.Gln685=)
|
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|
NM_006031.6(PCNT):c.2056A>G (p.Thr686Ala)
|
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|
NM_006031.6(PCNT):c.2058T>G (p.Thr686=)
|
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|
NM_006031.6(PCNT):c.2062C>T (p.Leu688Phe)
|
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|
NM_006031.6(PCNT):c.2064C>A (p.Leu688=)
|
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|
NM_006031.6(PCNT):c.2064C>G (p.Leu688=)
|
|
|
NM_006031.6(PCNT):c.2064C>T (p.Leu688=)
|
|
|
NM_006031.6(PCNT):c.2075T>C (p.Ile692Thr)
|
rs886057179
|
|
NM_006031.6(PCNT):c.2076T>C (p.Ile692=)
|
|
|
NM_006031.6(PCNT):c.207T>G (p.Ile69Met)
|
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|
NM_006031.6(PCNT):c.2085A>C (p.Leu695=)
|
|
|
NM_006031.6(PCNT):c.2096_2102del (p.Asn699fs)
|
|
|
NM_006031.6(PCNT):c.2104T>C (p.Leu702=)
|
|
|
NM_006031.6(PCNT):c.2108A>T (p.Tyr703Phe)
|
rs572444748
|
|
NM_006031.6(PCNT):c.2118G>A (p.Leu706=)
|
|
|
NM_006031.6(PCNT):c.2119C>G (p.Gln707Glu)
|
rs2084508666
|
|
NM_006031.6(PCNT):c.2132G>A (p.Arg711His)
|
|
|
NM_006031.6(PCNT):c.2133_2140dup (p.Asp714delinsValTer)
|
|
|
NM_006031.6(PCNT):c.2142C>T (p.Asp714=)
|
|
|
NM_006031.6(PCNT):c.2154+10G>A
|
|
|
NM_006031.6(PCNT):c.2154+15C>T
|
|
|
NM_006031.6(PCNT):c.2154+19G>T
|
|
|
NM_006031.6(PCNT):c.2154+20C>G
|
|
|
NM_006031.6(PCNT):c.2154+20C>T
|
|
|
NM_006031.6(PCNT):c.2154+7C>A
|
rs376236418
|
|
NM_006031.6(PCNT):c.2154+7C>T
|
rs376236418
|
|
NM_006031.6(PCNT):c.2154+8G>C
|
|
|
NM_006031.6(PCNT):c.2155-13_2155-12del
|
|
|
NM_006031.6(PCNT):c.2155-20T>G
|
|
|
NM_006031.6(PCNT):c.2155-21_2186del
|
rs1555959737
|
|
NM_006031.6(PCNT):c.2155-6C>G
|
|
|
NM_006031.6(PCNT):c.2155-7T>C
|
|
|
NM_006031.6(PCNT):c.2155-7T>G
|
|
|
NM_006031.6(PCNT):c.2167C>G (p.Leu723Val)
|
rs483352730
|
|
NM_006031.6(PCNT):c.2169A>C (p.Leu723=)
|
|
|
NM_006031.6(PCNT):c.2171T>C (p.Ile724Thr)
|
|
|
NM_006031.6(PCNT):c.2188G>T (p.Glu730Ter)
|
|
|
NM_006031.6(PCNT):c.2193A>G (p.Leu731=)
|
|
|
NM_006031.6(PCNT):c.219A>G (p.Thr73=)
|
|
|
NM_006031.6(PCNT):c.219A>T (p.Thr73=)
|
|
|
NM_006031.6(PCNT):c.21G>A (p.Gln7=)
|
|
|
NM_006031.6(PCNT):c.2207A>G (p.Gln736Arg)
|
|
|
NM_006031.6(PCNT):c.2208A>G (p.Gln736=)
|
|
|
NM_006031.6(PCNT):c.2214T>C (p.Thr738=)
|
|
|
NM_006031.6(PCNT):c.222A>G (p.Ser74=)
|
|
|
NM_006031.6(PCNT):c.2250G>A (p.Thr750=)
|
rs749527537
|
|
NM_006031.6(PCNT):c.2250G>T (p.Thr750=)
|
|
|
NM_006031.6(PCNT):c.2253C>T (p.Asp751=)
|
|
|
NM_006031.6(PCNT):c.2266A>G (p.Lys756Glu)
|
|
|
NM_006031.6(PCNT):c.2273A>G (p.Glu758Gly)
|
|
|
NM_006031.6(PCNT):c.2274G>A (p.Glu758=)
|
|
|
NM_006031.6(PCNT):c.2281C>T (p.Arg761Trp)
|
|
|
NM_006031.6(PCNT):c.228C>T (p.Asp76=)
|
|
|
NM_006031.6(PCNT):c.2298G>A (p.Lys766=)
|
|
|
NM_006031.6(PCNT):c.2304A>G (p.Thr768=)
|
|
|
NM_006031.6(PCNT):c.2308A>G (p.Met770Val)
|
rs763610190
|
|
NM_006031.6(PCNT):c.2313A>C (p.Leu771=)
|
|
|
NM_006031.6(PCNT):c.2317G>T (p.Glu773Ter)
|
|
|
NM_006031.6(PCNT):c.231C>T (p.Asp77=)
|
|
|
NM_006031.6(PCNT):c.2331G>A (p.Lys777=)
|
|
|
NM_006031.6(PCNT):c.2340C>G (p.Ser780=)
|
|
|
NM_006031.6(PCNT):c.2340C>T (p.Ser780=)
|
|
|
NM_006031.6(PCNT):c.234C>A (p.Thr78=)
|
|
|
NM_006031.6(PCNT):c.234C>T (p.Thr78=)
|
|
|
NM_006031.6(PCNT):c.2352C>T (p.Thr784=)
|
|
|
NM_006031.6(PCNT):c.2374C>T (p.Arg792Ter)
|
rs151020551
|
|
NM_006031.6(PCNT):c.237del (p.Asp80fs)
|
|
|
NM_006031.6(PCNT):c.2382T>C (p.Ala794=)
|
|
|
NM_006031.6(PCNT):c.2385A>G (p.Glu795=)
|
|
|
NM_006031.6(PCNT):c.2407C>T (p.Gln803Ter)
|
rs1569201595
|
|
NM_006031.6(PCNT):c.2410dup (p.Ala804fs)
|
|
|
NM_006031.6(PCNT):c.2421C>T (p.Ile807=)
|
|
|
NM_006031.6(PCNT):c.2424G>C (p.Leu808=)
|
|
|
NM_006031.6(PCNT):c.2445G>A (p.Thr815=)
|
|
|
NM_006031.6(PCNT):c.2445G>T (p.Thr815=)
|
|
|
NM_006031.6(PCNT):c.2451G>A (p.Gln817=)
|
|
|
NM_006031.6(PCNT):c.2451G>T (p.Gln817His)
|
rs771463564
|
|
NM_006031.6(PCNT):c.2456dup (p.Arg820fs)
|
|
|
NM_006031.6(PCNT):c.2460C>A (p.Arg820=)
|
|
|
NM_006031.6(PCNT):c.2461C>T (p.Leu821=)
|
|
|
NM_006031.6(PCNT):c.246A>G (p.Ala82=)
|
|
|
NM_006031.6(PCNT):c.2470C>T (p.Leu824=)
|
rs61735803
|
|
NM_006031.6(PCNT):c.2473G>T (p.Glu825Ter)
|
|
|
NM_006031.6(PCNT):c.2475A>G (p.Glu825=)
|
|
|
NM_006031.6(PCNT):c.247G>C (p.Gly83Arg)
|
rs886042361
|
|
NM_006031.6(PCNT):c.2481C>T (p.Asp827=)
|
|
|
NM_006031.6(PCNT):c.2484C>T (p.Leu828=)
|
|
|
NM_006031.6(PCNT):c.2488T>A (p.Ser830Thr)
|
rs1268691558
|
|
NM_006031.6(PCNT):c.2494G>A (p.Asp832Asn)
|
|
|
NM_006031.6(PCNT):c.2496C>T (p.Asp832=)
|
|
|
NM_006031.6(PCNT):c.2499C>A (p.Ala833=)
|
|
|
NM_006031.6(PCNT):c.24G>A (p.Arg8=)
|
|
|
NM_006031.6(PCNT):c.24G>C (p.Arg8=)
|
rs375279759
|
|
NM_006031.6(PCNT):c.2502G>A (p.Leu834=)
|
|
|
NM_006031.6(PCNT):c.2508C>T (p.Cys836=)
|
|
|
NM_006031.6(PCNT):c.2510G>A (p.Ser837Asn)
|
|
|
NM_006031.6(PCNT):c.2516G>T (p.Cys839Phe)
|
rs1189857776
|
|
NM_006031.6(PCNT):c.2521C>T (p.Arg841Trp)
|
|
|
NM_006031.6(PCNT):c.2527C>T (p.Pro843Ser)
|
|
|
NM_006031.6(PCNT):c.2528C>T (p.Pro843Leu)
|
|
|
NM_006031.6(PCNT):c.2529G>A (p.Pro843=)
|
|
|
NM_006031.6(PCNT):c.2529G>T (p.Pro843=)
|
|
|
NM_006031.6(PCNT):c.252G>A (p.Gly84=)
|
|
|
NM_006031.6(PCNT):c.252G>C (p.Gly84=)
|
|
|
NM_006031.6(PCNT):c.2544C>T (p.Asp848=)
|
|
|
NM_006031.6(PCNT):c.2545G>T (p.Gly849Trp)
|
rs776223654
|
|
NM_006031.6(PCNT):c.2556_2559delinsCTTT (p.Ala853Phe)
|
rs2146858439
|
|
NM_006031.6(PCNT):c.2558C>T (p.Ala853Val)
|
|
|
NM_006031.6(PCNT):c.2559G>C (p.Ala853=)
|
|
|
NM_006031.6(PCNT):c.2559G>T (p.Ala853=)
|
|
|
NM_006031.6(PCNT):c.255C>A (p.Ala85=)
|
|
|
NM_006031.6(PCNT):c.2562C>G (p.Leu854=)
|
|
|
NM_006031.6(PCNT):c.2565C>T (p.His855=)
|
|
|
NM_006031.6(PCNT):c.2580C>T (p.Cys860=)
|
|
|
NM_006031.6(PCNT):c.2581G>A (p.Ala861Thr)
|
|
|
NM_006031.6(PCNT):c.2597T>A (p.Leu866Gln)
|
|
|
NM_006031.6(PCNT):c.25_34del (p.Arg9fs)
|
|
|
NM_006031.6(PCNT):c.2603G>A (p.Arg868Gln)
|
|
|
NM_006031.6(PCNT):c.2606G>A (p.Ser869Asn)
|
|
|
NM_006031.6(PCNT):c.2609+13T>A
|
|
|
NM_006031.6(PCNT):c.2609+17G>A
|
|
|
NM_006031.6(PCNT):c.2609+2T>G
|
|
|
NM_006031.6(PCNT):c.2609+4G>A
|
|
|
NM_006031.6(PCNT):c.2610-11T>G
|
|
|
NM_006031.6(PCNT):c.2610-15A>G
|
|
|
NM_006031.6(PCNT):c.2610-18T>C
|
|
|
NM_006031.6(PCNT):c.2610-297G>T
|
rs115674777
|
|
NM_006031.6(PCNT):c.2610-50T>A
|
rs9637173
|
|
NM_006031.6(PCNT):c.2610-50T>G
|
rs9637173
|
|
NM_006031.6(PCNT):c.2615T>C (p.Leu872Ser)
|
rs2084937959
|
|
NM_006031.6(PCNT):c.2619G>A (p.Glu873=)
|
|
|
NM_006031.6(PCNT):c.2625T>C (p.Arg875=)
|
|
|
NM_006031.6(PCNT):c.2627_2628del (p.Lys876fs)
|
|
|
NM_006031.6(PCNT):c.2628A>G (p.Lys876=)
|
rs758820636
|
|
NM_006031.6(PCNT):c.262G>A (p.Ala88Thr)
|
rs768342760
|
|
NM_006031.6(PCNT):c.2637C>T (p.Thr879=)
|
rs369248579
|
|
NM_006031.6(PCNT):c.2638G>A (p.Glu880Lys)
|
|
|
NM_006031.6(PCNT):c.2640G>A (p.Glu880=)
|
|
|
NM_006031.6(PCNT):c.2652G>A (p.Ala884=)
|
|
|
NM_006031.6(PCNT):c.2653G>T (p.Glu885Ter)
|
|
|
NM_006031.6(PCNT):c.2661T>A (p.Asp887Glu)
|
|
|
NM_006031.6(PCNT):c.2663C>T (p.Ala888Val)
|
|
|
NM_006031.6(PCNT):c.266A>G (p.Gln89Arg)
|
|
|
NM_006031.6(PCNT):c.267+13A>G
|
|
|
NM_006031.6(PCNT):c.267+14A>G
|
|
|
NM_006031.6(PCNT):c.267+17T>G
|
|
|
NM_006031.6(PCNT):c.267+18T>C
|
|
|
NM_006031.6(PCNT):c.267+8dup
|
|
|
NM_006031.6(PCNT):c.2670G>T (p.Leu890=)
|
|
|
NM_006031.6(PCNT):c.268-13C>T
|
|
|
NM_006031.6(PCNT):c.268-13del
|
|
|
NM_006031.6(PCNT):c.268-14C>T
|
|
|
NM_006031.6(PCNT):c.268-17G>T
|
|
|
NM_006031.6(PCNT):c.268-193C>A
|
rs1021389888
|
|
NM_006031.6(PCNT):c.268-19C>T
|
|
|
NM_006031.6(PCNT):c.268-4T>C
|
rs1569162349
|
|
NM_006031.6(PCNT):c.268-5C>T
|
|
|
NM_006031.6(PCNT):c.268-5_268-3del
|
rs751683541
|
|
NM_006031.6(PCNT):c.268-8C>G
|
|
|
NM_006031.6(PCNT):c.268-9C>G
|
|
|
NM_006031.6(PCNT):c.2692G>A (p.Ala898Thr)
|
|
|
NM_006031.6(PCNT):c.2695C>T (p.Arg899Cys)
|
|
|
NM_006031.6(PCNT):c.2696G>A (p.Arg899His)
|
|
|
NM_006031.6(PCNT):c.2697T>G (p.Arg899=)
|
|
|
NM_006031.6(PCNT):c.2708T>C (p.Leu903Pro)
|
|
|
NM_006031.6(PCNT):c.2716G>A (p.Glu906Lys)
|
rs2146921088
|
|
NM_006031.6(PCNT):c.2736C>A (p.Leu912=)
|
|
|
NM_006031.6(PCNT):c.2737C>T (p.Leu913=)
|
|
|
NM_006031.6(PCNT):c.2742A>G (p.Ser914=)
|
rs587784301
|
|
NM_006031.6(PCNT):c.2747C>T (p.Thr916Met)
|
|
|
NM_006031.6(PCNT):c.2748G>A (p.Thr916=)
|
|
|
NM_006031.6(PCNT):c.2748G>T (p.Thr916=)
|
|
|
NM_006031.6(PCNT):c.2750C>T (p.Ala917Val)
|
rs763541418
|
|
NM_006031.6(PCNT):c.2751G>A (p.Ala917=)
|
|
|
NM_006031.6(PCNT):c.2757C>T (p.Leu919=)
|
|
|
NM_006031.6(PCNT):c.2775C>T (p.Ala925=)
|
|
|
NM_006031.6(PCNT):c.2776G>A (p.Ala926Thr)
|
|
|
NM_006031.6(PCNT):c.2779T>A (p.Leu927Met)
|
|
|
NM_006031.6(PCNT):c.2782G>C (p.Gly928Arg)
|
|
|
NM_006031.6(PCNT):c.2785G>A (p.Glu929Lys)
|
|
|
NM_006031.6(PCNT):c.2790G>A (p.Leu930=)
|
|
|
NM_006031.6(PCNT):c.27C>T (p.Arg9=)
|
|
|
NM_006031.6(PCNT):c.2812C>T (p.Gln938Ter)
|
|
|
NM_006031.6(PCNT):c.2813_2814del (p.Gln938fs)
|
rs2146922620
|
|
NM_006031.6(PCNT):c.2818dup (p.Ala940fs)
|
rs2146922648
|
|
NM_006031.6(PCNT):c.2821C>T (p.Leu941=)
|
|
|
NM_006031.6(PCNT):c.2834G>A (p.Arg945His)
|
rs183691508
|
|
NM_006031.6(PCNT):c.2834G>T (p.Arg945Leu)
|
|
|
NM_006031.6(PCNT):c.2835T>C (p.Arg945=)
|
|
|
NM_006031.6(PCNT):c.2841C>T (p.Ala947=)
|
|
|
NM_006031.6(PCNT):c.2842G>T (p.Glu948Ter)
|
|
|
NM_006031.6(PCNT):c.2852C>A (p.Thr951Lys)
|
|
|
NM_006031.6(PCNT):c.2856A>G (p.Lys952=)
|
|
|
NM_006031.6(PCNT):c.2859C>T (p.His953=)
|
|
|
NM_006031.6(PCNT):c.2871C>T (p.Leu957=)
|
|
|
NM_006031.6(PCNT):c.2874C>T (p.Gly958=)
|
|
|
NM_006031.6(PCNT):c.2881G>C (p.Glu961Gln)
|
|
|
NM_006031.6(PCNT):c.2883G>A (p.Glu961=)
|
|
|
NM_006031.6(PCNT):c.2885C>T (p.Thr962Ile)
|
|
|
NM_006031.6(PCNT):c.288G>A (p.Glu96=)
|
|
|
NM_006031.6(PCNT):c.2893C>T (p.Leu965=)
|
|
|
NM_006031.6(PCNT):c.2895G>A (p.Leu965=)
|
|
|
NM_006031.6(PCNT):c.2895G>T (p.Leu965=)
|
|
|
NM_006031.6(PCNT):c.2900G>A (p.Ser967Asn)
|
|
|
NM_006031.6(PCNT):c.2906_2913del (p.Asp969fs)
|
|
|
NM_006031.6(PCNT):c.2925C>T (p.Tyr975=)
|
|
|
NM_006031.6(PCNT):c.2929T>G (p.Ser977Ala)
|
|
|
NM_006031.6(PCNT):c.2945T>C (p.Ile982Thr)
|
|
|
NM_006031.6(PCNT):c.2950G>T (p.Glu984Ter)
|
|
|
NM_006031.6(PCNT):c.2964G>T (p.Gln988His)
|
|
|
NM_006031.6(PCNT):c.2967C>G (p.Ala989=)
|
|
|
NM_006031.6(PCNT):c.2968C>T (p.Leu990=)
|
|
|
NM_006031.6(PCNT):c.2976C>G (p.Leu992=)
|
|
|
NM_006031.6(PCNT):c.2984_2994del (p.Ala995fs)
|
rs587784302
|
|
NM_006031.6(PCNT):c.298G>A (p.Asp100Asn)
|
|
|
NM_006031.6(PCNT):c.2990_2991dup (p.Glu998fs)
|
|
|
NM_006031.6(PCNT):c.2994G>A (p.Glu998=)
|
|
|
NM_006031.6(PCNT):c.29G>C (p.Arg10Thr)
|
|
|
NM_006031.6(PCNT):c.3000A>G (p.Gln1000=)
|
|
|
NM_006031.6(PCNT):c.3003G>A (p.Leu1001=)
|
|
|
NM_006031.6(PCNT):c.3007A>G (p.Lys1003Glu)
|
|
|
NM_006031.6(PCNT):c.3008A>C (p.Lys1003Thr)
|
|
|
NM_006031.6(PCNT):c.3009A>G (p.Lys1003=)
|
|
|
NM_006031.6(PCNT):c.3010A>T (p.Lys1004Ter)
|
|
|
NM_006031.6(PCNT):c.3018T>C (p.Ser1006=)
|
|
|
NM_006031.6(PCNT):c.3019_3020del (p.Leu1007fs)
|
rs764602074
|
|
NM_006031.6(PCNT):c.3021T>C (p.Leu1007=)
|
|
|
NM_006031.6(PCNT):c.3028del (p.Thr1010fs)
|
|
|
NM_006031.6(PCNT):c.3036G>A (p.Leu1012=)
|
|
|
NM_006031.6(PCNT):c.3038C>T (p.Thr1013Ile)
|
rs777758638
|
|
NM_006031.6(PCNT):c.3054A>G (p.Lys1018=)
|
|
|
NM_006031.6(PCNT):c.3058A>T (p.Lys1020Ter)
|
rs1555962301
|
|
NM_006031.6(PCNT):c.3064A>G (p.Lys1022Glu)
|
|
|
NM_006031.6(PCNT):c.3066A>G (p.Lys1022=)
|
|
|
NM_006031.6(PCNT):c.3069C>T (p.His1023=)
|
|
|
NM_006031.6(PCNT):c.3081A>G (p.Leu1027=)
|
|
|
NM_006031.6(PCNT):c.3083A>G (p.Gln1028Arg)
|
|
|
NM_006031.6(PCNT):c.3085T>C (p.Ser1029Pro)
|
rs1054600402
|
|
NM_006031.6(PCNT):c.3086C>G (p.Ser1029Cys)
|
|
|
NM_006031.6(PCNT):c.3087T>C (p.Ser1029=)
|
|
|
NM_006031.6(PCNT):c.3091C>G (p.Arg1031Gly)
|
rs766301934
|
|
NM_006031.6(PCNT):c.3100C>T (p.Leu1034=)
|
|
|
NM_006031.6(PCNT):c.3104G>A (p.Arg1035Gln)
|
|
|
NM_006031.6(PCNT):c.3109G>A (p.Glu1037Lys)
|
|
|
NM_006031.6(PCNT):c.3109G>T (p.Glu1037Ter)
|
rs119479063
|
|
NM_006031.6(PCNT):c.3113_3143del (p.Val1038fs)
|
|
|
NM_006031.6(PCNT):c.3118A>G (p.Thr1040Ala)
|
|
|
NM_006031.6(PCNT):c.3126C>T (p.Leu1042=)
|
|
|
NM_006031.6(PCNT):c.3129C>T (p.Ala1043=)
|
|
|
NM_006031.6(PCNT):c.3133A>G (p.Thr1045Ala)
|
rs1251042241
|
|
NM_006031.6(PCNT):c.3135C>G (p.Thr1045=)
|
|
|
NM_006031.6(PCNT):c.3135C>T (p.Thr1045=)
|
|
|
NM_006031.6(PCNT):c.3148C>T (p.Leu1050=)
|
|
|
NM_006031.6(PCNT):c.3157G>A (p.Val1053Met)
|
rs2146927861
|
|
NM_006031.6(PCNT):c.3159G>A (p.Val1053=)
|
|
|
NM_006031.6(PCNT):c.315G>A (p.Gln105=)
|
|
|
NM_006031.6(PCNT):c.3162C>T (p.His1054=)
|
|
|
NM_006031.6(PCNT):c.3165+135G>T
|
rs114734904
|
|
NM_006031.6(PCNT):c.3165+13G>A
|
|
|
NM_006031.6(PCNT):c.3165+15C>A
|
|
|
NM_006031.6(PCNT):c.3165+15C>T
|
|
|
NM_006031.6(PCNT):c.3165+187del
|
rs35676009
|
|
NM_006031.6(PCNT):c.3165+187dup
|
rs35676009
|
|
NM_006031.6(PCNT):c.3165+19G>A
|
|
|
NM_006031.6(PCNT):c.3165+1G>A
|
|
|
NM_006031.6(PCNT):c.3165+7C>T
|
|
|
NM_006031.6(PCNT):c.3165+8G>A
|
|
|
NM_006031.6(PCNT):c.3165+8G>T
|
|
|
NM_006031.6(PCNT):c.3166-13T>C
|
|
|
NM_006031.6(PCNT):c.3166-14A>G
|
|
|
NM_006031.6(PCNT):c.3166-20A>G
|
|
|
NM_006031.6(PCNT):c.3166-20_3166-18del
|
|
|
NM_006031.6(PCNT):c.3166-2A>C
|
rs774553297
|
|
NM_006031.6(PCNT):c.3166-6G>A
|
|
|
NM_006031.6(PCNT):c.3166-8G>A
|
|
|
NM_006031.6(PCNT):c.3167G>A (p.Gly1056Asp)
|
|
|
NM_006031.6(PCNT):c.3168T>G (p.Gly1056=)
|
rs2147145493
|
|
NM_006031.6(PCNT):c.3175G>A (p.Gly1059Arg)
|
|
|
NM_006031.6(PCNT):c.3186G>A (p.Lys1062=)
|
|
|
NM_006031.6(PCNT):c.3204A>G (p.Glu1068=)
|
|
|
NM_006031.6(PCNT):c.3206A>G (p.Lys1069Arg)
|
rs886057180
|
|
NM_006031.6(PCNT):c.3216A>G (p.Thr1072=)
|
|
|
NM_006031.6(PCNT):c.321G>T (p.Lys107Asn)
|
rs138834119
|
|
NM_006031.6(PCNT):c.3222G>A (p.Arg1074=)
|
|
|
NM_006031.6(PCNT):c.3223C>T (p.Leu1075Phe)
|
rs2085550399
|
|
NM_006031.6(PCNT):c.3225dup (p.Gln1076fs)
|
|
|
NM_006031.6(PCNT):c.3228G>T (p.Gln1076His)
|
rs986050062
|
|
NM_006031.6(PCNT):c.3233C>A (p.Ala1078Glu)
|
rs587784303
|
|
NM_006031.6(PCNT):c.3239C>T (p.Ala1080Val)
|
|
|
NM_006031.6(PCNT):c.3246T>A (p.Pro1082=)
|
|
|
NM_006031.6(PCNT):c.3264del (p.Glu1089fs)
|
|
|
NM_006031.6(PCNT):c.3271T>C (p.Leu1091=)
|
|
|
NM_006031.6(PCNT):c.3271_3272del (p.Leu1091fs)
|
|
|
NM_006031.6(PCNT):c.3282G>T (p.Gln1094His)
|
rs78484478
|
|
NM_006031.6(PCNT):c.3295_3312+14del
|
|
|
NM_006031.6(PCNT):c.3312+11T>A
|
|
|
NM_006031.6(PCNT):c.3312+13C>G
|
|
|
NM_006031.6(PCNT):c.3312+13C>T
|
|
|
NM_006031.6(PCNT):c.3312+151A>G
|
rs78213973
|
|
NM_006031.6(PCNT):c.3312+160G>C
|
rs75351856
|
|
NM_006031.6(PCNT):c.3312+16T>C
|
|
|
NM_006031.6(PCNT):c.3312+16T>G
|
|
|
NM_006031.6(PCNT):c.3312+16_3312+19dup
|
|
|
NM_006031.6(PCNT):c.3312+171G>A
|
rs79769247
|
|
NM_006031.6(PCNT):c.3312+19T>C
|
|
|
NM_006031.6(PCNT):c.3312+20C>T
|
|
|
NM_006031.6(PCNT):c.3312+226_3312+232del
|
rs1342651494
|
|
NM_006031.6(PCNT):c.3312+7_3312+10dup
|
|
|
NM_006031.6(PCNT):c.3313-14A>G
|
|
|
NM_006031.6(PCNT):c.3313-15C>G
|
|
|
NM_006031.6(PCNT):c.3313-5G>A
|
|
|
NM_006031.6(PCNT):c.3313-5G>C
|
|
|
NM_006031.6(PCNT):c.3313-6C>T
|
|
|
NM_006031.6(PCNT):c.3313-8C>T
|
|
|
NM_006031.6(PCNT):c.3328T>C (p.Leu1110=)
|
|
|
NM_006031.6(PCNT):c.3330A>G (p.Leu1110=)
|
|
|
NM_006031.6(PCNT):c.3333C>T (p.Ser1111=)
|
rs2085811037
|
|
NM_006031.6(PCNT):c.3336A>C (p.Leu1112Phe)
|
|
|
NM_006031.6(PCNT):c.3336A>G (p.Leu1112=)
|
|
|
NM_006031.6(PCNT):c.3339T>G (p.Ser1113Arg)
|
rs61735805
|
|
NM_006031.6(PCNT):c.3340C>T (p.His1114Tyr)
|
|
|
NM_006031.6(PCNT):c.3342C>T (p.His1114=)
|
|
|
NM_006031.6(PCNT):c.3345G>A (p.Glu1115=)
|
|
|
NM_006031.6(PCNT):c.3354G>A (p.Glu1118=)
|
|
|
NM_006031.6(PCNT):c.3358C>T (p.Arg1120Cys)
|
rs375135272
|
|
NM_006031.6(PCNT):c.3359G>A (p.Arg1120His)
|
|
|
NM_006031.6(PCNT):c.335A>G (p.His112Arg)
|
|
|
NM_006031.6(PCNT):c.3360C>T (p.Arg1120=)
|
|
|
NM_006031.6(PCNT):c.3367T>C (p.Leu1123=)
|
|
|
NM_006031.6(PCNT):c.3367_3372del (p.Leu1123_Glu1124del)
|
|
|
NM_006031.6(PCNT):c.3369G>A (p.Leu1123=)
|
|
|
NM_006031.6(PCNT):c.3372G>A (p.Glu1124=)
|
|
|
NM_006031.6(PCNT):c.3373G>A (p.Val1125Met)
|
|
|
NM_006031.6(PCNT):c.3375G>A (p.Val1125=)
|
|
|
NM_006031.6(PCNT):c.3376C>T (p.Leu1126=)
|
|
|
NM_006031.6(PCNT):c.3378G>A (p.Leu1126=)
|
|
|
NM_006031.6(PCNT):c.33G>A (p.Lys11=)
|
|
|
NM_006031.6(PCNT):c.3402C>T (p.Asn1134=)
|
|
|
NM_006031.6(PCNT):c.3404G>A (p.Arg1135Gln)
|
|
|
NM_006031.6(PCNT):c.3411C>G (p.Gly1137=)
|
rs375993930
|
|
NM_006031.6(PCNT):c.3418CTC[1] (p.Leu1141del)
|
rs759470656
|
|
NM_006031.6(PCNT):c.3420C>G (p.Leu1140=)
|
|
|
NM_006031.6(PCNT):c.3423del (p.Ser1142fs)
|
rs2085816295
|
|
NM_006031.6(PCNT):c.3424_3425del (p.Ser1142fs)
|
|
|
NM_006031.6(PCNT):c.3427A>G (p.Met1143Val)
|
|
|
NM_006031.6(PCNT):c.3428T>C (p.Met1143Thr)
|
rs746010044
|
|
NM_006031.6(PCNT):c.3438C>T (p.Ala1146=)
|
|
|
NM_006031.6(PCNT):c.3441C>T (p.Asp1147=)
|
rs201652457
|
|
NM_006031.6(PCNT):c.3442G>A (p.Val1148Ile)
|
|
|
NM_006031.6(PCNT):c.3453C>A (p.Ser1151=)
|
|
|
NM_006031.6(PCNT):c.3459C>T (p.Ser1153=)
|
|
|
NM_006031.6(PCNT):c.345G>A (p.Glu115=)
|
|
|
NM_006031.6(PCNT):c.3460G>A (p.Glu1154Lys)
|
|
|
NM_006031.6(PCNT):c.3460G>T (p.Glu1154Ter)
|
rs387906928
|
|
NM_006031.6(PCNT):c.3463A>C (p.Arg1155=)
|
rs775021770
|
|
NM_006031.6(PCNT):c.3464+12C>T
|
|
|
NM_006031.6(PCNT):c.3464+14C>A
|
|
|
NM_006031.6(PCNT):c.3464+15G>A
|
|
|
NM_006031.6(PCNT):c.3464+17C>T
|
|
|
NM_006031.6(PCNT):c.3464+19C>G
|
|
|
NM_006031.6(PCNT):c.3464+19C>T
|
|
|
NM_006031.6(PCNT):c.3464+20C>G
|
|
|
NM_006031.6(PCNT):c.3464+20C>T
|
|
|
NM_006031.6(PCNT):c.3464+4A>T
|
rs1555971930
|
|
NM_006031.6(PCNT):c.3465-12C>G
|
|
|
NM_006031.6(PCNT):c.3465-14G>A
|
|
|
NM_006031.6(PCNT):c.3465-16G>T
|
|
|
NM_006031.6(PCNT):c.3465-1G>C
|
rs755084205
|
|
NM_006031.6(PCNT):c.3465-20A>G
|
|
|
NM_006031.6(PCNT):c.3465-8T>C
|
rs997591754
|
|
NM_006031.6(PCNT):c.3471C>T (p.Ala1157=)
|
|
|
NM_006031.6(PCNT):c.3478G>C (p.Asp1160His)
|
|
|
NM_006031.6(PCNT):c.3480C>T (p.Asp1160=)
|
|
|
NM_006031.6(PCNT):c.3481G>A (p.Ala1161Thr)
|
rs150279909
|
|
NM_006031.6(PCNT):c.3481G>T (p.Ala1161Ser)
|
rs150279909
|
|
NM_006031.6(PCNT):c.3483C>T (p.Ala1161=)
|
|
|
NM_006031.6(PCNT):c.349T>C (p.Cys117Arg)
|
|
|
NM_006031.6(PCNT):c.3500del (p.Gly1167fs)
|
|
|
NM_006031.6(PCNT):c.3507del (p.Phe1169fs)
|
|
|
NM_006031.6(PCNT):c.350G>C (p.Cys117Ser)
|
|
|
NM_006031.6(PCNT):c.3510A>G (p.Gly1170=)
|
|
|
NM_006031.6(PCNT):c.3516G>A (p.Thr1172=)
|
|
|
NM_006031.6(PCNT):c.3531C>G (p.Val1177=)
|
|
|
NM_006031.6(PCNT):c.3535C>T (p.Leu1179=)
|
|
|
NM_006031.6(PCNT):c.353G>A (p.Gly118Glu)
|
|
|
NM_006031.6(PCNT):c.3544C>T (p.Arg1182Trp)
|
|
|
NM_006031.6(PCNT):c.3545G>A (p.Arg1182Gln)
|
|
|
NM_006031.6(PCNT):c.354G>C (p.Gly118=)
|
|
|
NM_006031.6(PCNT):c.3550G>A (p.Gly1184Arg)
|
rs752738005
|
|
NM_006031.6(PCNT):c.3553G>A (p.Glu1185Lys)
|
rs920374957
|
|
NM_006031.6(PCNT):c.3558C>G (p.Arg1186=)
|
|
|
NM_006031.6(PCNT):c.3558C>T (p.Arg1186=)
|
|
|
NM_006031.6(PCNT):c.3559G>A (p.Val1187Met)
|
|
|
NM_006031.6(PCNT):c.3564G>T (p.Gly1188=)
|
rs1555973364
|
|
NM_006031.6(PCNT):c.3567C>T (p.Leu1189=)
|
|
|
NM_006031.6(PCNT):c.3568dup (p.Cys1190fs)
|
rs397514033
|
|
NM_006031.6(PCNT):c.3579C>T (p.Asp1193=)
|
|
|
NM_006031.6(PCNT):c.3582G>A (p.Ala1194=)
|
|
|
NM_006031.6(PCNT):c.3582G>T (p.Ala1194=)
|
|
|
NM_006031.6(PCNT):c.3585C>T (p.Gly1195=)
|
|
|
NM_006031.6(PCNT):c.3586G>A (p.Ala1196Thr)
|
|
|
NM_006031.6(PCNT):c.3588A>T (p.Ala1196=)
|
|
|
NM_006031.6(PCNT):c.3597C>G (p.Ala1199=)
|
|
|
NM_006031.6(PCNT):c.3597C>T (p.Ala1199=)
|
|
|
NM_006031.6(PCNT):c.3600G>A (p.Leu1200=)
|
|
|
NM_006031.6(PCNT):c.3603G>A (p.Ser1201=)
|
|
|
NM_006031.6(PCNT):c.3603G>T (p.Ser1201=)
|
|
|
NM_006031.6(PCNT):c.3607+11C>T
|
|
|
NM_006031.6(PCNT):c.3607+14G>A
|
|
|
NM_006031.6(PCNT):c.3607+15A>T
|
|
|
NM_006031.6(PCNT):c.3607+19G>C
|
|
|
NM_006031.6(PCNT):c.3608-10C>T
|
|
|
NM_006031.6(PCNT):c.3608-18C>T
|
|
|
NM_006031.6(PCNT):c.3608-20G>A
|
|
|
NM_006031.6(PCNT):c.3608-2A>G
|
|
|
NM_006031.6(PCNT):c.3608-9A>G
|
|
|
NM_006031.6(PCNT):c.3608C>T (p.Ala1203Val)
|
|
|
NM_006031.6(PCNT):c.3612G>A (p.Pro1204=)
|
|
|
NM_006031.6(PCNT):c.3612G>T (p.Pro1204=)
|
|
|
NM_006031.6(PCNT):c.3615G>T (p.Ala1205=)
|
|
|
NM_006031.6(PCNT):c.3617T>G (p.Leu1206Arg)
|
rs1430261995
|
|
NM_006031.6(PCNT):c.3621G>A (p.Glu1207=)
|
|
|
NM_006031.6(PCNT):c.3624G>A (p.Glu1208=)
|
|
|
NM_006031.6(PCNT):c.3627A>G (p.Thr1209=)
|
|
|
NM_006031.6(PCNT):c.362C>T (p.Thr121Ile)
|
|
|
NM_006031.6(PCNT):c.362_363del (p.Thr121fs)
|
|
|
NM_006031.6(PCNT):c.3636T>C (p.Asp1212=)
|
|
|
NM_006031.6(PCNT):c.3651G>A (p.Glu1217=)
|
|
|
NM_006031.6(PCNT):c.3652T>C (p.Leu1218=)
|
|
|
NM_006031.6(PCNT):c.3654G>A (p.Leu1218=)
|
|
|
NM_006031.6(PCNT):c.3667T>A (p.Ser1223Thr)
|
|
|
NM_006031.6(PCNT):c.3669T>G (p.Ser1223=)
|
|
|
NM_006031.6(PCNT):c.3669dup (p.Glu1224Ter)
|
|
|
NM_006031.6(PCNT):c.366C>G (p.Val122=)
|
|
|
NM_006031.6(PCNT):c.366_369del (p.Ser123fs)
|
rs1569162602
|
|
NM_006031.6(PCNT):c.3678A>G (p.Ala1226=)
|
|
|
NM_006031.6(PCNT):c.3682A>G (p.Met1228Val)
|
rs886057182
|
|
NM_006031.6(PCNT):c.3682A>T (p.Met1228Leu)
|
rs886057182
|
|
NM_006031.6(PCNT):c.3699A>G (p.Glu1233=)
|
|
|
NM_006031.6(PCNT):c.36G>A (p.Val12=)
|
|
|
NM_006031.6(PCNT):c.3735C>A (p.Ser1245Arg)
|
|
|
NM_006031.6(PCNT):c.3740A>G (p.Glu1247Gly)
|
rs779953366
|
|
NM_006031.6(PCNT):c.3744T>C (p.Ser1248=)
|
|
|
NM_006031.6(PCNT):c.3747G>A (p.Val1249=)
|
|
|
NM_006031.6(PCNT):c.3747G>T (p.Val1249=)
|
|
|
NM_006031.6(PCNT):c.3755G>T (p.Cys1252Phe)
|
|
|
NM_006031.6(PCNT):c.3757G>T (p.Glu1253Ter)
|
rs1555973872
|
|
NM_006031.6(PCNT):c.3762G>A (p.Gln1254=)
|
rs886057184
|
|
NM_006031.6(PCNT):c.3765C>T (p.Pro1255=)
|
|
|
NM_006031.6(PCNT):c.3768C>T (p.Ile1256=)
|
|
|
NM_006031.6(PCNT):c.3771G>T (p.Arg1257=)
|
|
|
NM_006031.6(PCNT):c.3780C>T (p.Phe1260=)
|
|
|
NM_006031.6(PCNT):c.3785G>A (p.Ser1262Asn)
|
|
|
NM_006031.6(PCNT):c.3789C>T (p.Leu1263=)
|
|
|
NM_006031.6(PCNT):c.3799G>T (p.Val1267Leu)
|
|
|
NM_006031.6(PCNT):c.379C>G (p.Pro127Ala)
|
rs139106698
|
|
NM_006031.6(PCNT):c.3801G>C (p.Val1267=)
|
|
|
NM_006031.6(PCNT):c.3804C>T (p.Asp1268=)
|
|
|
NM_006031.6(PCNT):c.3810C>T (p.Leu1270=)
|
rs1189912868
|
|
NM_006031.6(PCNT):c.3812T>G (p.Met1271Arg)
|
rs1484681697
|
|
NM_006031.6(PCNT):c.3813G>A (p.Met1271Ile)
|
|
|
NM_006031.6(PCNT):c.3822C>T (p.Ala1274=)
|
|
|
NM_006031.6(PCNT):c.3830_3831dup (p.Ser1278fs)
|
|
|
NM_006031.6(PCNT):c.3831C>T (p.Ser1277=)
|
rs1156521433
|
|
NM_006031.6(PCNT):c.3834C>T (p.Ser1278=)
|
|
|
NM_006031.6(PCNT):c.3837_3841-542del
|
|
|
NM_006031.6(PCNT):c.3840+14T>G
|
|
|
NM_006031.6(PCNT):c.3840+17C>T
|
|
|
NM_006031.6(PCNT):c.3840+18G>A
|
|
|
NM_006031.6(PCNT):c.3840+20G>C
|
|
|
NM_006031.6(PCNT):c.3840+9C>T
|
|
|
NM_006031.6(PCNT):c.3841-103_3841-101dup
|
rs3831446
|
|
NM_006031.6(PCNT):c.3841-10G>A
|
|
|
NM_006031.6(PCNT):c.3841-12G>A
|
|
|
NM_006031.6(PCNT):c.3841-16A>G
|
|
|
NM_006031.6(PCNT):c.3841-19T>G
|
|
|
NM_006031.6(PCNT):c.3841-9T>A
|
|
|
NM_006031.6(PCNT):c.3843G>A (p.Leu1281=)
|
|
|
NM_006031.6(PCNT):c.3849A>G (p.Glu1283=)
|
|
|
NM_006031.6(PCNT):c.3851C>T (p.Ala1284Val)
|
|
|
NM_006031.6(PCNT):c.3857A>G (p.Gln1286Arg)
|
rs2086002722
|
|
NM_006031.6(PCNT):c.3867T>C (p.Ser1289=)
|
|
|
NM_006031.6(PCNT):c.3870T>A (p.Arg1290=)
|
|
|
NM_006031.6(PCNT):c.3882A>G (p.Glu1294=)
|
|
|
NM_006031.6(PCNT):c.3897T>A (p.Asn1299Lys)
|
rs1601936257
|
|
NM_006031.6(PCNT):c.3902A>G (p.Glu1301Gly)
|
|
|
NM_006031.6(PCNT):c.3919del (p.Arg1307fs)
|
|
|
NM_006031.6(PCNT):c.391G>C (p.Gly131Arg)
|
|
|
NM_006031.6(PCNT):c.3927C>T (p.His1309=)
|
|
|
NM_006031.6(PCNT):c.3928C>T (p.Gln1310Ter)
|
|
|
NM_006031.6(PCNT):c.3936G>T (p.Leu1312=)
|
|
|
NM_006031.6(PCNT):c.3939G>A (p.Leu1313=)
|
|
|
NM_006031.6(PCNT):c.3951G>A (p.Lys1317=)
|
|
|
NM_006031.6(PCNT):c.3957G>A (p.Glu1319=)
|
|
|
NM_006031.6(PCNT):c.395_402del (p.Met132fs)
|
|
|
NM_006031.6(PCNT):c.3960C>T (p.Ser1320=)
|
|
|
NM_006031.6(PCNT):c.3961G>A (p.Ala1321Thr)
|
|
|
NM_006031.6(PCNT):c.3971C>T (p.Ala1324Val)
|
rs2147300447
|
|
NM_006031.6(PCNT):c.3978G>A (p.Leu1326=)
|
|
|
NM_006031.6(PCNT):c.397T>A (p.Phe133Ile)
|
|
|
NM_006031.6(PCNT):c.3981G>A (p.Ala1327=)
|
|
|
NM_006031.6(PCNT):c.3988C>T (p.Leu1330=)
|
|
|
NM_006031.6(PCNT):c.398del (p.Phe133fs)
|
rs1131691484
|
|
NM_006031.6(PCNT):c.3990G>A (p.Leu1330=)
|
|
|
NM_006031.6(PCNT):c.4001A>C (p.Gln1334Pro)
|
rs1318648644
|
|
NM_006031.6(PCNT):c.4003+10A>G
|
|
|
NM_006031.6(PCNT):c.4003+16C>A
|
|
|
NM_006031.6(PCNT):c.4003+17C>G
|
|
|
NM_006031.6(PCNT):c.4003+19C>T
|
|
|
NM_006031.6(PCNT):c.4003+20G>A
|
|
|
NM_006031.6(PCNT):c.4003+7A>G
|
|
|
NM_006031.6(PCNT):c.4003+9C>G
|
|
|
NM_006031.6(PCNT):c.4004-14T>G
|
|
|
NM_006031.6(PCNT):c.4004-15G>C
|
|
|
NM_006031.6(PCNT):c.4004-18T>C
|
|
|
NM_006031.6(PCNT):c.4004-2A>G
|
rs2147305680
|
|
NM_006031.6(PCNT):c.4004-8C>G
|
|
|
NM_006031.6(PCNT):c.4008C>G (p.Thr1336=)
|
|
|
NM_006031.6(PCNT):c.4016del (p.Gly1339fs)
|
|
|
NM_006031.6(PCNT):c.4020C>T (p.Phe1340=)
|
|
|
NM_006031.6(PCNT):c.4029G>A (p.Glu1343=)
|
|
|
NM_006031.6(PCNT):c.4032A>G (p.Thr1344=)
|
|
|
NM_006031.6(PCNT):c.4032A>T (p.Thr1344=)
|
|
|
NM_006031.6(PCNT):c.4039C>T (p.Leu1347=)
|
|
|
NM_006031.6(PCNT):c.403G>A (p.Val135Ile)
|
|
|
NM_006031.6(PCNT):c.4041G>C (p.Leu1347=)
|
|
|
NM_006031.6(PCNT):c.4044G>A (p.Lys1348=)
|
|
|
NM_006031.6(PCNT):c.4045G>A (p.Glu1349Lys)
|
rs2147306221
|
|
NM_006031.6(PCNT):c.4057G>A (p.Gly1353Arg)
|
|
|
NM_006031.6(PCNT):c.406_444del (p.Gly136_Val148del)
|
rs748692891
|
|
NM_006031.6(PCNT):c.406_444dup (p.Val148_Ser149insGlyAspHisProProGluGlnArgGlyMetPheThrVal)
|
|
|
NM_006031.6(PCNT):c.406_483del (p.Gly136_Val161del)
|
rs2146357648
|
|
NM_006031.6(PCNT):c.4071C>T (p.Ser1357=)
|
|
|
NM_006031.6(PCNT):c.4072G>A (p.Glu1358Lys)
|
|
|
NM_006031.6(PCNT):c.4072G>C (p.Glu1358Gln)
|
|
|
NM_006031.6(PCNT):c.4077C>T (p.His1359=)
|
|
|
NM_006031.6(PCNT):c.4079G>A (p.Arg1360His)
|
|
|
NM_006031.6(PCNT):c.4083G>C (p.Leu1361=)
|
rs368626471
|
|
NM_006031.6(PCNT):c.4098G>A (p.Glu1366=)
|
|
|
NM_006031.6(PCNT):c.4117C>T (p.Gln1373Ter)
|
rs1555974965
|
|
NM_006031.6(PCNT):c.4119G>A (p.Gln1373=)
|
|
|
NM_006031.6(PCNT):c.4125G>A (p.Ala1375=)
|
|
|
NM_006031.6(PCNT):c.4128C>G (p.Ala1376=)
|
|
|
NM_006031.6(PCNT):c.4132G>A (p.Glu1378Lys)
|
|
|
NM_006031.6(PCNT):c.4134G>A (p.Glu1378=)
|
|
|
NM_006031.6(PCNT):c.4138G>A (p.Ala1380Thr)
|
|
|
NM_006031.6(PCNT):c.4140G>T (p.Ala1380=)
|
|
|
NM_006031.6(PCNT):c.4142C>A (p.Ala1381Glu)
|
|
|
NM_006031.6(PCNT):c.4155G>T (p.Glu1385Asp)
|
|
|
NM_006031.6(PCNT):c.4167G>C (p.Leu1389=)
|
|
|
NM_006031.6(PCNT):c.4174C>T (p.Arg1392Trp)
|
|
|
NM_006031.6(PCNT):c.4176G>T (p.Arg1392=)
|
|
|
NM_006031.6(PCNT):c.4177G>A (p.Gly1393Arg)
|
rs753662756
|
|
NM_006031.6(PCNT):c.4177G>T (p.Gly1393Trp)
|
rs753662756
|
|
NM_006031.6(PCNT):c.4185C>G (p.Ala1395=)
|
|
|
NM_006031.6(PCNT):c.4194G>A (p.Thr1398=)
|
|
|
NM_006031.6(PCNT):c.419C>T (p.Pro140Leu)
|
|
|
NM_006031.6(PCNT):c.4200C>T (p.Ala1400=)
|
|
|
NM_006031.6(PCNT):c.4209A>G (p.Arg1403=)
|
|
|
NM_006031.6(PCNT):c.420A>G (p.Pro140=)
|
rs527413251
|
|
NM_006031.6(PCNT):c.4216+10G>A
|
|
|
NM_006031.6(PCNT):c.4216+12G>A
|
|
|
NM_006031.6(PCNT):c.4216+17G>C
|
|
|
NM_006031.6(PCNT):c.4216+21_4216+39dup
|
|
|
NM_006031.6(PCNT):c.4216+8G>T
|
|
|
NM_006031.6(PCNT):c.4217-19G>A
|
|
|
NM_006031.6(PCNT):c.4217-341G>T
|
rs118147673
|
|
NM_006031.6(PCNT):c.4217-6C>T
|
|
|
NM_006031.6(PCNT):c.4217-7T>C
|
|
|
NM_006031.6(PCNT):c.4221C>T (p.Leu1407=)
|
|
|
NM_006031.6(PCNT):c.423A>G (p.Glu141=)
|
|
|
NM_006031.6(PCNT):c.4245C>G (p.Thr1415=)
|
|
|
NM_006031.6(PCNT):c.4248A>G (p.Lys1416=)
|
|
|
NM_006031.6(PCNT):c.4250A>G (p.Glu1417Gly)
|
|
|
NM_006031.6(PCNT):c.4257G>A (p.Ser1419=)
|
|
|
NM_006031.6(PCNT):c.4263C>T (p.Thr1421=)
|
|
|
NM_006031.6(PCNT):c.4276G>A (p.Glu1426Lys)
|
|
|
NM_006031.6(PCNT):c.4277_4281del (p.Glu1426fs)
|
|
|
NM_006031.6(PCNT):c.4281G>A (p.Lys1427=)
|
|
|
NM_006031.6(PCNT):c.428G>A (p.Arg143His)
|
rs58106867
|
|
NM_006031.6(PCNT):c.428_466del (p.Arg143_Gln155del)
|
|
|
NM_006031.6(PCNT):c.428_466dup (p.Arg143_Gln155dup)
|
rs759009997
|
|
NM_006031.6(PCNT):c.4294C>T (p.Leu1432=)
|
|
|
NM_006031.6(PCNT):c.4299C>T (p.Leu1433=)
|
|
|
NM_006031.6(PCNT):c.4302C>A (p.Ser1434=)
|
|
|
NM_006031.6(PCNT):c.4305G>A (p.Gln1435=)
|
|
|
NM_006031.6(PCNT):c.4305G>C (p.Gln1435His)
|
|
|
NM_006031.6(PCNT):c.4309A>C (p.Lys1437Gln)
|
rs2147401506
|
|
NM_006031.6(PCNT):c.430G>A (p.Gly144Arg)
|
rs761827077
|
|
NM_006031.6(PCNT):c.4336C>G (p.Gln1446Glu)
|
|
|
NM_006031.6(PCNT):c.4336C>T (p.Gln1446Ter)
|
|
|
NM_006031.6(PCNT):c.4339C>T (p.Leu1447=)
|
|
|
NM_006031.6(PCNT):c.4352G>A (p.Arg1451His)
|
|
|
NM_006031.6(PCNT):c.4353C>T (p.Arg1451=)
|
|
|
NM_006031.6(PCNT):c.4356G>A (p.Gly1452=)
|
|
|
NM_006031.6(PCNT):c.4358G>A (p.Cys1453Tyr)
|
|
|
NM_006031.6(PCNT):c.4366C>T (p.Gln1456Ter)
|
rs1569249386
|
|
NM_006031.6(PCNT):c.4370C>T (p.Ala1457Val)
|
|
|
NM_006031.6(PCNT):c.4374G>A (p.Glu1458=)
|
|
|
NM_006031.6(PCNT):c.4377C>G (p.Ala1459=)
|
|
|
NM_006031.6(PCNT):c.4377C>T (p.Ala1459=)
|
rs552768332
|
|
NM_006031.6(PCNT):c.4389G>T (p.Leu1463=)
|
|
|
NM_006031.6(PCNT):c.4408C>T (p.Leu1470=)
|
|
|
NM_006031.6(PCNT):c.4411G>C (p.Asp1471His)
|
rs2147403017
|
|
NM_006031.6(PCNT):c.4425C>T (p.Arg1475=)
|
|
|
NM_006031.6(PCNT):c.4429C>T (p.Gln1477Ter)
|
|
|
NM_006031.6(PCNT):c.442G>T (p.Val148Phe)
|
rs201815546
|
|
NM_006031.6(PCNT):c.442_519del (p.Val148_Thr173del)
|
rs1555945478
|
|
NM_006031.6(PCNT):c.4432C>T (p.Arg1478Trp)
|
rs549834885
|
|
NM_006031.6(PCNT):c.4436A>C (p.Gln1479Pro)
|
|
|
NM_006031.6(PCNT):c.4440C>T (p.Phe1480=)
|
|
|
NM_006031.6(PCNT):c.4441A>G (p.Met1481Val)
|
|
|
NM_006031.6(PCNT):c.4446+14A>G
|
|
|
NM_006031.6(PCNT):c.4446+15T>G
|
|
|
NM_006031.6(PCNT):c.4446+17A>G
|
|
|
NM_006031.6(PCNT):c.4446+17_4446+19del
|
|
|
NM_006031.6(PCNT):c.4446+7A>T
|
|
|
NM_006031.6(PCNT):c.4447-14G>C
|
|
|
NM_006031.6(PCNT):c.4447-15T>C
|
|
|
NM_006031.6(PCNT):c.4447-16C>T
|
|
|
NM_006031.6(PCNT):c.4447-17G>A
|
|
|
NM_006031.6(PCNT):c.4447-17G>T
|
|
|
NM_006031.6(PCNT):c.4447-254_4447-244dup
|
rs57503743
|
|
NM_006031.6(PCNT):c.4447-4C>T
|
|
|
NM_006031.6(PCNT):c.4448A>C (p.Glu1483Ala)
|
|
|
NM_006031.6(PCNT):c.4448_4791+1del
|
|
|
NM_006031.6(PCNT):c.444_445insGGTGACCACCCACCAGAACAGCATGGGATGTTCACAGTC (p.Val148_Ser149insGlyAspHisProProGluGlnHisGlyMetPheThrVal)
|
|
|
NM_006031.6(PCNT):c.444_445insTGTGACCACCCACCAGAACAGCATGGGATGTTCACAGTCAGTGACCACCCACCGGAACAGCGTGGGATGTTCACAGTCGGTGACCACCCACCAGAACAGCGTGGGATGTTCACAGTC (p.Val148_Ser149insCysAspHisProProGluGlnHisGlyMetPheThrValSerAspHisProProGluGlnArgGlyMetPheThrValGlyAspHisProProGluGlnArgGlyMetPheThrVal)
|
|
|
NM_006031.6(PCNT):c.4455A>T (p.Ala1485=)
|
|
|
NM_006031.6(PCNT):c.4458C>T (p.Ala1486=)
|
|
|
NM_006031.6(PCNT):c.445A>G (p.Ser149Gly)
|
rs111737555
|
|
NM_006031.6(PCNT):c.445A>T (p.Ser149Cys)
|
rs111737555
|
|
NM_006031.6(PCNT):c.4463G>A (p.Arg1488Gln)
|
|
|
NM_006031.6(PCNT):c.4469A>T (p.His1490Leu)
|
|
|
NM_006031.6(PCNT):c.4470C>T (p.His1490=)
|
|
|
NM_006031.6(PCNT):c.4471G>T (p.Glu1491Ter)
|
|
|
NM_006031.6(PCNT):c.4476C>T (p.Arg1492=)
|
|
|
NM_006031.6(PCNT):c.4477G>A (p.Glu1493Lys)
|
|
|
NM_006031.6(PCNT):c.4478dup (p.Glu1494fs)
|
|
|
NM_006031.6(PCNT):c.4482G>A (p.Glu1494=)
|
|
|
NM_006031.6(PCNT):c.4484T>C (p.Phe1495Ser)
|
|
|
NM_006031.6(PCNT):c.4486C>T (p.Gln1496Ter)
|
|
|
NM_006031.6(PCNT):c.4498C>A (p.Gln1500Lys)
|
|
|
NM_006031.6(PCNT):c.4506G>A (p.Leu1502=)
|
|
|
NM_006031.6(PCNT):c.4518C>G (p.Leu1506=)
|
rs954455553
|
|
NM_006031.6(PCNT):c.4518C>T (p.Leu1506=)
|
|
|
NM_006031.6(PCNT):c.451_452insTGGGATGTTCACAGTCAGTGACCACCCACCAGAACAGCA (p.His151delinsLeuGlyCysSerGlnSerValThrThrHisGlnAsnSerAsn)
|
rs2146360015
|
|
NM_006031.6(PCNT):c.4521C>A (p.Arg1507=)
|
|
|
NM_006031.6(PCNT):c.4521C>T (p.Arg1507=)
|
|
|
NM_006031.6(PCNT):c.4530C>G (p.Ala1510=)
|
|
|
NM_006031.6(PCNT):c.4536G>A (p.Pro1512=)
|
|
|
NM_006031.6(PCNT):c.4544_4551del (p.Trp1515fs)
|
|
|
NM_006031.6(PCNT):c.4551T>C (p.Pro1517=)
|
rs762692764
|
|
NM_006031.6(PCNT):c.4554C>G (p.Arg1518=)
|
|
|
NM_006031.6(PCNT):c.4557C>T (p.Asp1519=)
|
rs768029500
|
|
NM_006031.6(PCNT):c.4563+13A>G
|
|
|
NM_006031.6(PCNT):c.4563+14G>A
|
|
|
NM_006031.6(PCNT):c.4563+16G>A
|
|
|
NM_006031.6(PCNT):c.4563+16G>T
|
|
|
NM_006031.6(PCNT):c.4563+9G>A
|
rs750949882
|
|
NM_006031.6(PCNT):c.4564-13A>G
|
|
|
NM_006031.6(PCNT):c.4564-14C>T
|
|
|
NM_006031.6(PCNT):c.4564-16T>C
|
|
|
NM_006031.6(PCNT):c.4564-18T>C
|
|
|
NM_006031.6(PCNT):c.4564-19A>G
|
|
|
NM_006031.6(PCNT):c.4564-4G>A
|
|
|
NM_006031.6(PCNT):c.4564-6C>G
|
|
|
NM_006031.6(PCNT):c.4564-6C>T
|
|
|
NM_006031.6(PCNT):c.4569G>A (p.Ala1523=)
|
|
|
NM_006031.6(PCNT):c.4571C>G (p.Pro1524Arg)
|
rs35513449
|
|
NM_006031.6(PCNT):c.4571C>T (p.Pro1524Leu)
|
rs35513449
|
|
NM_006031.6(PCNT):c.4582G>T (p.Glu1528Ter)
|
|
|
NM_006031.6(PCNT):c.4584+10C>T
|
|
|
NM_006031.6(PCNT):c.4584+11G>A
|
rs752879780
|
|
NM_006031.6(PCNT):c.4584+11G>C
|
rs752879780
|
|
NM_006031.6(PCNT):c.4584+14_4584+16del
|
|
|
NM_006031.6(PCNT):c.4584+16C>T
|
|
|
NM_006031.6(PCNT):c.4584+17G>A
|
|
|
NM_006031.6(PCNT):c.4584+7_4584+9del
|
|
|
NM_006031.6(PCNT):c.4584G>A (p.Glu1528=)
|
|
|
NM_006031.6(PCNT):c.4585-10G>A
|
|
|
NM_006031.6(PCNT):c.4585-13T>G
|
|
|
NM_006031.6(PCNT):c.4585-230T>C
|
rs74788394
|
|
NM_006031.6(PCNT):c.4585-230T>G
|
rs74788394
|
|
NM_006031.6(PCNT):c.4585-26_7180-1125del
|
|
|
NM_006031.6(PCNT):c.4585-284T>G
|
rs73907495
|
|
NM_006031.6(PCNT):c.4585-2A>G
|
|
|
NM_006031.6(PCNT):c.4585-2A>T
|
|
|
NM_006031.6(PCNT):c.4585-4T>C
|
|
|
NM_006031.6(PCNT):c.4585G>A (p.Val1529Ile)
|
|
|
NM_006031.6(PCNT):c.458C>A (p.Pro153Gln)
|
|
|
NM_006031.6(PCNT):c.4597C>A (p.Gln1533Lys)
|
|
|
NM_006031.6(PCNT):c.4597C>T (p.Gln1533Ter)
|
|
|
NM_006031.6(PCNT):c.459_536del (p.His156_Gln181del)
|
|
|
NM_006031.6(PCNT):c.45G>A (p.Gly15=)
|
|
|
NM_006031.6(PCNT):c.45G>C (p.Gly15=)
|
|
|
NM_006031.6(PCNT):c.4602A>G (p.Gln1534=)
|
|
|
NM_006031.6(PCNT):c.4605G>A (p.Lys1535=)
|
|
|
NM_006031.6(PCNT):c.4611A>G (p.Arg1537=)
|
rs587784305
|
|
NM_006031.6(PCNT):c.4618T>C (p.Leu1540=)
|
|
|
NM_006031.6(PCNT):c.4620G>A (p.Leu1540=)
|
|
|
NM_006031.6(PCNT):c.4625A>C (p.Glu1542Ala)
|
rs797045877
|
|
NM_006031.6(PCNT):c.4629T>C (p.Phe1543=)
|
|
|
NM_006031.6(PCNT):c.4641T>C (p.Ala1547=)
|
|
|
NM_006031.6(PCNT):c.4650A>G (p.Lys1550=)
|
|
|
NM_006031.6(PCNT):c.4655C>A (p.Ser1552Ter)
|
rs915028258
|
|
NM_006031.6(PCNT):c.4656G>A (p.Ser1552=)
|
|
|
NM_006031.6(PCNT):c.465G>A (p.Gln155=)
|
|
|
NM_006031.6(PCNT):c.4662T>C (p.Asp1554=)
|
|
|
NM_006031.6(PCNT):c.466_467insTGGGATGTTCACAGTCAGTGACCACCCACCAGAACAGCGTGGGATGTTCACAATCAGTGACCACCAACCGGAACAGCG (p.His156delinsLeuGlyCysSerGlnSerValThrThrHisGlnAsnSerValGlyCysSerGlnSerValThrThrAsnArgAsnSerAsp)
|
|
|
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.467_583dup (p.His156_Gln194dup)
|
rs1555945598
|
|
NM_006031.6(PCNT):c.4687G>A (p.Glu1563Lys)
|
|
|
NM_006031.6(PCNT):c.4687G>C (p.Glu1563Gln)
|
rs746297554
|
|
NM_006031.6(PCNT):c.468T>A (p.His156Gln)
|
rs1333048694
|
|
NM_006031.6(PCNT):c.4692T>A (p.Ile1564=)
|
|
|
NM_006031.6(PCNT):c.469G>A (p.Gly157Arg)
|
rs1555945637
|
|
NM_006031.6(PCNT):c.46A>C (p.Arg16=)
|
|
|
NM_006031.6(PCNT):c.4702G>T (p.Glu1568Ter)
|
rs1217566598
|
|
NM_006031.6(PCNT):c.4716C>T (p.Ile1572=)
|
|
|
NM_006031.6(PCNT):c.4719C>T (p.Asn1573=)
|
|
|
NM_006031.6(PCNT):c.471G>C (p.Gly157=)
|
rs1301515712
|
|
NM_006031.6(PCNT):c.4731A>T (p.Lys1577Asn)
|
|
|
NM_006031.6(PCNT):c.4734G>C (p.Val1578=)
|
|
|
NM_006031.6(PCNT):c.4743C>A (p.Leu1581=)
|
|
|
NM_006031.6(PCNT):c.4743C>G (p.Leu1581=)
|
|
|
NM_006031.6(PCNT):c.4749A>G (p.Glu1583=)
|
|
|
NM_006031.6(PCNT):c.4755G>A (p.Val1585=)
|
|
|
NM_006031.6(PCNT):c.4764_4765del (p.Asn1590fs)
|
|
|
NM_006031.6(PCNT):c.4769A>G (p.Asn1590Ser)
|
rs587784307
|
|
NM_006031.6(PCNT):c.4773C>T (p.Ile1591=)
|
|
|
NM_006031.6(PCNT):c.477C>T (p.Phe159=)
|
|
|
NM_006031.6(PCNT):c.4791+1G>A
|
|
|
NM_006031.6(PCNT):c.4791+5A>G
|
|
|
NM_006031.6(PCNT):c.4791+7C>T
|
|
|
NM_006031.6(PCNT):c.4792-13T>C
|
|
|
NM_006031.6(PCNT):c.4792-16C>A
|
|
|
NM_006031.6(PCNT):c.4792-16C>T
|
|
|
NM_006031.6(PCNT):c.4792-215C>T
|
rs11701999
|
|
NM_006031.6(PCNT):c.4792-318A>G
|
rs116328527
|
|
NM_006031.6(PCNT):c.4792-4del
|
|
|
NM_006031.6(PCNT):c.4792-6T>A
|
|
|
NM_006031.6(PCNT):c.4792-6T>C
|
|
|
NM_006031.6(PCNT):c.4792-6del
|
rs575429540
|
|
NM_006031.6(PCNT):c.4792-6dup
|
rs575429540
|
|
NM_006031.6(PCNT):c.4792-8T>C
|
|
|
NM_006031.6(PCNT):c.4803G>A (p.Val1601=)
|
|
|
NM_006031.6(PCNT):c.4809G>A (p.Lys1603=)
|
|
|
NM_006031.6(PCNT):c.4810A>G (p.Lys1604Glu)
|
|
|
NM_006031.6(PCNT):c.4818G>A (p.Gln1606=)
|
|
|
NM_006031.6(PCNT):c.481_519dup (p.Val161_Thr173dup)
|
rs886042352
|
|
NM_006031.6(PCNT):c.4839G>A (p.Ala1613=)
|
|
|
NM_006031.6(PCNT):c.4839G>C (p.Ala1613=)
|
|
|
NM_006031.6(PCNT):c.483C>G (p.Val161=)
|
|
|
NM_006031.6(PCNT):c.483_484insGGTGACCACCCACCAGAACAGCGTGGGATGTTCACAGTC (p.Val161_Ser162insGlyAspHisProProGluGlnArgGlyMetPheThrVal)
|
rs2146360513
|
|
NM_006031.6(PCNT):c.4845G>A (p.Thr1615=)
|
|
|
NM_006031.6(PCNT):c.4857A>G (p.Thr1619=)
|
|
|
NM_006031.6(PCNT):c.4872A>G (p.Arg1624=)
|
|
|
NM_006031.6(PCNT):c.4882C>T (p.Pro1628Ser)
|
|
|
NM_006031.6(PCNT):c.4890G>A (p.Ser1630=)
|
|
|
NM_006031.6(PCNT):c.489C>T (p.Asp163=)
|
|
|
NM_006031.6(PCNT):c.4925A>C (p.Glu1642Ala)
|
|
|
NM_006031.6(PCNT):c.4938A>G (p.Arg1646=)
|
|
|
NM_006031.6(PCNT):c.4938_4939del (p.Arg1646fs)
|
rs797045879
|
|
NM_006031.6(PCNT):c.4941A>G (p.Ala1647=)
|
|
|
NM_006031.6(PCNT):c.4945C>T (p.Leu1649=)
|
|
|
NM_006031.6(PCNT):c.4945dup (p.Leu1649fs)
|
|
|
NM_006031.6(PCNT):c.4948C>T (p.Arg1650Trp)
|
|
|
NM_006031.6(PCNT):c.4954G>A (p.Glu1652Lys)
|
|
|
NM_006031.6(PCNT):c.4959C>T (p.Ser1653=)
|
|
|
NM_006031.6(PCNT):c.4962+11A>C
|
|
|
NM_006031.6(PCNT):c.4962+14G>A
|
|
|
NM_006031.6(PCNT):c.4962+17G>A
|
|
|
NM_006031.6(PCNT):c.4962+1G>C
|
|
|
NM_006031.6(PCNT):c.4962+20A>G
|
|
|
NM_006031.6(PCNT):c.4963-16_4963-14del
|
|
|
NM_006031.6(PCNT):c.4963-180dup
|
rs11417856
|
|
NM_006031.6(PCNT):c.4963-18C>G
|
|
|
NM_006031.6(PCNT):c.4963-190dup
|
rs11391105
|
|
NM_006031.6(PCNT):c.4963-8A>G
|
|
|
NM_006031.6(PCNT):c.4963-9T>G
|
|
|
NM_006031.6(PCNT):c.4974_4977del (p.Lys1659fs)
|
rs2147503631
|
|
NM_006031.6(PCNT):c.4976_4980del (p.Lys1659fs)
|
|
|
NM_006031.6(PCNT):c.4980A>G (p.Glu1660=)
|
|
|
NM_006031.6(PCNT):c.4986A>G (p.Leu1662=)
|
|
|
NM_006031.6(PCNT):c.5004C>T (p.Asp1668=)
|
|
|
NM_006031.6(PCNT):c.501A>G (p.Glu167=)
|
|
|
NM_006031.6(PCNT):c.5020G>T (p.Glu1674Ter)
|
rs587784308
|
|
NM_006031.6(PCNT):c.5023G>T (p.Glu1675Ter)
|
|
|
NM_006031.6(PCNT):c.5029C>T (p.Leu1677=)
|
|
|
NM_006031.6(PCNT):c.5034T>C (p.His1678=)
|
|
|
NM_006031.6(PCNT):c.5038A>T (p.Asn1680Tyr)
|
rs2147504560
|
|
NM_006031.6(PCNT):c.5039A>C (p.Asn1680Thr)
|
rs1296247151
|
|
NM_006031.6(PCNT):c.5047T>C (p.Leu1683=)
|
rs145305649
|
|
NM_006031.6(PCNT):c.5055dup (p.Gln1686fs)
|
|
|
NM_006031.6(PCNT):c.5056C>T (p.Gln1686Ter)
|
|
|
NM_006031.6(PCNT):c.5059_5060del (p.Asn1687fs)
|
rs2147504920
|
|
NM_006031.6(PCNT):c.505_506insATGGGATGTTCACAGTCAGTGACCACCCACCAGAACAGCGTGGGATGTTCACAGTCAGTGACCACCCACCGGAACAGC (p.Gln168_Arg169insHisGlyMetPheThrValSerAspHisProProGluGlnArgGlyMetPheThrValSerAspHisProProGluGln)
|
rs1569163275
|
|
NM_006031.6(PCNT):c.5073T>C (p.Ala1691=)
|
rs570456724
|
|
NM_006031.6(PCNT):c.5074G>A (p.Val1692Ile)
|
rs113342730
|
|
NM_006031.6(PCNT):c.5074G>C (p.Val1692Leu)
|
|
|
NM_006031.6(PCNT):c.5097A>G (p.Glu1699=)
|
|
|
NM_006031.6(PCNT):c.509G>C (p.Gly170Ala)
|
rs761232554
|
|
NM_006031.6(PCNT):c.5103C>T (p.Asn1701=)
|
|
|
NM_006031.6(PCNT):c.5106G>A (p.Thr1702=)
|
|
|
NM_006031.6(PCNT):c.5106G>C (p.Thr1702=)
|
|
|
NM_006031.6(PCNT):c.5110T>C (p.Leu1704=)
|
|
|
NM_006031.6(PCNT):c.5115+20C>T
|
|
|
NM_006031.6(PCNT):c.5115+9C>A
|
|
|
NM_006031.6(PCNT):c.5116-12C>G
|
|
|
NM_006031.6(PCNT):c.5116-17A>G
|
|
|
NM_006031.6(PCNT):c.5116-3C>T
|
|
|
NM_006031.6(PCNT):c.5116-6C>T
|
|
|
NM_006031.6(PCNT):c.5128A>C (p.Arg1710=)
|
|
|
NM_006031.6(PCNT):c.513G>C (p.Met171Ile)
|
rs142422937
|
|
NM_006031.6(PCNT):c.513_590del (p.Met171_Gly196del)
|
rs1569163245
|
|
NM_006031.6(PCNT):c.5142T>C (p.Ile1714=)
|
|
|
NM_006031.6(PCNT):c.5145A>G (p.Glu1715=)
|
|
|
NM_006031.6(PCNT):c.5147A>C (p.Glu1716Ala)
|
|
|
NM_006031.6(PCNT):c.5155G>A (p.Ala1719Thr)
|
rs1290537073
|
|
NM_006031.6(PCNT):c.5158A>G (p.Thr1720Ala)
|
|
|
NM_006031.6(PCNT):c.5167A>G (p.Asn1723Asp)
|
|
|
NM_006031.6(PCNT):c.5172G>T (p.Leu1724=)
|
|
|
NM_006031.6(PCNT):c.5174A>C (p.Gln1725Pro)
|
|
|
NM_006031.6(PCNT):c.5175A>G (p.Gln1725=)
|
rs750305466
|
|
NM_006031.6(PCNT):c.5177A>G (p.Glu1726Gly)
|
rs1555984919
|
|
NM_006031.6(PCNT):c.5188C>T (p.Arg1730Ter)
|
|
|
NM_006031.6(PCNT):c.5189G>A (p.Arg1730Gln)
|
|
|
NM_006031.6(PCNT):c.5192T>C (p.Leu1731Ser)
|
|
|
NM_006031.6(PCNT):c.519_520insGTCAGTGACCACCCACCGGAACAGCGTGGGATGTTCACA (p.Val161_Thr173dup)
|
rs769893798
|
|
NM_006031.6(PCNT):c.51G>C (p.Thr17=)
|
|
|
NM_006031.6(PCNT):c.5208A>C (p.Ala1736=)
|
|
|
NM_006031.6(PCNT):c.520_558del (p.Ile174_Thr186del)
|
rs1569163286
|
|
NM_006031.6(PCNT):c.5223A>G (p.Gln1741=)
|
|
|
NM_006031.6(PCNT):c.5230G>T (p.Glu1744Ter)
|
|
|
NM_006031.6(PCNT):c.5235C>T (p.Val1745=)
|
|
|
NM_006031.6(PCNT):c.5247G>C (p.Leu1749=)
|
|
|
NM_006031.6(PCNT):c.5253C>G (p.His1751Gln)
|
rs114799541
|
|
NM_006031.6(PCNT):c.5253C>T (p.His1751=)
|
rs114799541
|
|
NM_006031.6(PCNT):c.5257C>T (p.Leu1753=)
|
rs886057185
|
|
NM_006031.6(PCNT):c.5280G>A (p.Val1760=)
|
|
|
NM_006031.6(PCNT):c.5292C>T (p.Ser1764=)
|
|
|
NM_006031.6(PCNT):c.5310T>C (p.Ser1770=)
|
|
|
NM_006031.6(PCNT):c.5313G>A (p.Leu1771=)
|
|
|
NM_006031.6(PCNT):c.5319C>T (p.Ser1773=)
|
|
|
NM_006031.6(PCNT):c.5320G>C (p.Glu1774Gln)
|
rs201709021
|
|
NM_006031.6(PCNT):c.5328C>T (p.Leu1776=)
|
|
|
NM_006031.6(PCNT):c.5330G>C (p.Cys1777Ser)
|
|
|
NM_006031.6(PCNT):c.5331C>T (p.Cys1777=)
|
|
|
NM_006031.6(PCNT):c.533A>C (p.Gln178Pro)
|
rs200285580
|
|
NM_006031.6(PCNT):c.5340C>G (p.Ala1780=)
|
|
|
NM_006031.6(PCNT):c.5340C>T (p.Ala1780=)
|
|
|
NM_006031.6(PCNT):c.5343G>A (p.Gly1781=)
|
|
|
NM_006031.6(PCNT):c.5347C>T (p.Pro1783Ser)
|
rs61735809
|
|
NM_006031.6(PCNT):c.534A>G (p.Gln178=)
|
|
|
NM_006031.6(PCNT):c.5355G>T (p.Gly1785=)
|
|
|
NM_006031.6(PCNT):c.5361C>A (p.Ala1787=)
|
|
|
NM_006031.6(PCNT):c.536C>T (p.Pro179Leu)
|
|
|
NM_006031.6(PCNT):c.5370C>A (p.Gly1790=)
|
|
|
NM_006031.6(PCNT):c.5371G>A (p.Glu1791Lys)
|
|
|
NM_006031.6(PCNT):c.5373G>A (p.Glu1791=)
|
|
|
NM_006031.6(PCNT):c.5376C>T (p.Leu1792=)
|
rs892137240
|
|
NM_006031.6(PCNT):c.5377G>A (p.Glu1793Lys)
|
|
|
NM_006031.6(PCNT):c.5377G>C (p.Glu1793Gln)
|
|
|
NM_006031.6(PCNT):c.537G>A (p.Pro179=)
|
rs754732068
|
|
NM_006031.6(PCNT):c.537G>C (p.Pro179=)
|
|
|
NM_006031.6(PCNT):c.5392G>A (p.Ala1798Thr)
|
rs1484070171
|
|
NM_006031.6(PCNT):c.54+12G>C
|
|
|
NM_006031.6(PCNT):c.54+13G>A
|
|
|
NM_006031.6(PCNT):c.54+141C>T
|
rs552938132
|
|
NM_006031.6(PCNT):c.54+20T>A
|
|
|
NM_006031.6(PCNT):c.54+20T>C
|
|
|
NM_006031.6(PCNT):c.54+8_54+10del
|
|
|
NM_006031.6(PCNT):c.5409C>T (p.Ser1803=)
|
rs1386858499
|
|
NM_006031.6(PCNT):c.5410C>T (p.Arg1804Trp)
|
|
|
NM_006031.6(PCNT):c.5424C>T (p.Asp1808=)
|
rs1602005291
|
|
NM_006031.6(PCNT):c.5424_5510del (p.Asp1808_Ala1836del)
|
|
|
NM_006031.6(PCNT):c.5431C>A (p.Arg1811Ser)
|
|
|
NM_006031.6(PCNT):c.5433C>T (p.Arg1811=)
|
|
|
NM_006031.6(PCNT):c.5436G>A (p.Arg1812=)
|
|
|
NM_006031.6(PCNT):c.543G>A (p.Gln181=)
|
|
|
NM_006031.6(PCNT):c.5443C>T (p.Gln1815Ter)
|
rs750764149
|
|
NM_006031.6(PCNT):c.5451G>A (p.Leu1817=)
|
|
|
NM_006031.6(PCNT):c.5457C>G (p.Ala1819=)
|
|
|
NM_006031.6(PCNT):c.5457C>T (p.Ala1819=)
|
|
|
NM_006031.6(PCNT):c.546T>A (p.Arg182=)
|
|
|
NM_006031.6(PCNT):c.546_547del (p.Gly183fs)
|
|
|
NM_006031.6(PCNT):c.5470C>T (p.Leu1824Phe)
|
rs1602005527
|
|
NM_006031.6(PCNT):c.5473C>T (p.Gln1825Ter)
|
|
|
NM_006031.6(PCNT):c.5475G>A (p.Gln1825=)
|
|
|
NM_006031.6(PCNT):c.5478C>T (p.Gly1826=)
|
|
|
NM_006031.6(PCNT):c.5479G>A (p.Ala1827Thr)
|
|
|
NM_006031.6(PCNT):c.5479G>T (p.Ala1827Ser)
|
|
|
NM_006031.6(PCNT):c.5480del (p.Ala1827fs)
|
|
|
NM_006031.6(PCNT):c.5482G>T (p.Glu1828Ter)
|
rs1315359733
|
|
NM_006031.6(PCNT):c.5487G>A (p.Glu1829=)
|
rs1245321190
|
|
NM_006031.6(PCNT):c.5496G>A (p.Glu1832=)
|
|
|
NM_006031.6(PCNT):c.5499A>G (p.Leu1833=)
|
|
|
NM_006031.6(PCNT):c.54G>A (p.Lys18=)
|
|
|
NM_006031.6(PCNT):c.5505G>A (p.Leu1835=)
|
|
|
NM_006031.6(PCNT):c.550A>G (p.Met184Val)
|
|
|
NM_006031.6(PCNT):c.5514G>T (p.Leu1838=)
|
|
|
NM_006031.6(PCNT):c.5518C>T (p.Arg1840Cys)
|
|
|
NM_006031.6(PCNT):c.5519G>A (p.Arg1840His)
|
rs200559632
|
|
NM_006031.6(PCNT):c.5520C>T (p.Arg1840=)
|
|
|
NM_006031.6(PCNT):c.5522_5523delinsGC (p.Asn1841Ser)
|
|
|
NM_006031.6(PCNT):c.5532C>T (p.Leu1844=)
|
|
|
NM_006031.6(PCNT):c.5538G>A (p.Glu1846=)
|
|
|
NM_006031.6(PCNT):c.5544G>A (p.Glu1848=)
|
|
|
NM_006031.6(PCNT):c.5547C>A (p.Val1849=)
|
rs370410169
|
|
NM_006031.6(PCNT):c.5547C>T (p.Val1849=)
|
|
|
NM_006031.6(PCNT):c.5548G>A (p.Glu1850Lys)
|
|
|
NM_006031.6(PCNT):c.5559C>G (p.Ala1853=)
|
|
|
NM_006031.6(PCNT):c.5562C>A (p.Ser1854=)
|
|
|
NM_006031.6(PCNT):c.5562_5563dup (p.Arg1855fs)
|
|
|
NM_006031.6(PCNT):c.5563C>A (p.Arg1855=)
|
rs151138182
|
|
NM_006031.6(PCNT):c.5563C>T (p.Arg1855Trp)
|
rs151138182
|
|
NM_006031.6(PCNT):c.5568C>T (p.Ile1856=)
|
|
|
NM_006031.6(PCNT):c.5577C>T (p.Phe1859=)
|
|
|
NM_006031.6(PCNT):c.5578G>A (p.Glu1860Lys)
|
rs369195346
|
|
NM_006031.6(PCNT):c.5578G>T (p.Glu1860Ter)
|
rs369195346
|
|
NM_006031.6(PCNT):c.5586C>A (p.Ala1862=)
|
|
|
NM_006031.6(PCNT):c.5587C>T (p.Leu1863=)
|
rs1602006314
|
|
NM_006031.6(PCNT):c.5592A>G (p.Lys1864=)
|
|
|
NM_006031.6(PCNT):c.5593G>A (p.Ala1865Thr)
|
|
|
NM_006031.6(PCNT):c.559_636del (p.Val187_Thr212del)
|
|
|
NM_006031.6(PCNT):c.5601A>G (p.Glu1867=)
|
|
|
NM_006031.6(PCNT):c.5607G>A (p.Thr1869=)
|
rs763347923
|
|
NM_006031.6(PCNT):c.5612_5629del (p.Ala1871_Ile1877delinsVal)
|
|
|
NM_006031.6(PCNT):c.5619A>G (p.Arg1873=)
|
|
|
NM_006031.6(PCNT):c.5627A>T (p.Glu1876Val)
|
|
|
NM_006031.6(PCNT):c.5632G>A (p.Asp1878Asn)
|
|
|
NM_006031.6(PCNT):c.5632G>C (p.Asp1878His)
|
|
|
NM_006031.6(PCNT):c.5637T>C (p.Ala1879=)
|
|
|
NM_006031.6(PCNT):c.5655G>A (p.Ala1885=)
|
|
|
NM_006031.6(PCNT):c.565G>T (p.Asp189Tyr)
|
rs2146362311
|
|
NM_006031.6(PCNT):c.5666C>G (p.Ala1889Gly)
|
rs2086791746
|
|
NM_006031.6(PCNT):c.5667C>T (p.Ala1889=)
|
|
|
NM_006031.6(PCNT):c.5668G>A (p.Glu1890Lys)
|
|
|
NM_006031.6(PCNT):c.5668G>C (p.Glu1890Gln)
|
|
|
NM_006031.6(PCNT):c.5677G>T (p.Ala1893Ser)
|
rs587784311
|
|
NM_006031.6(PCNT):c.5679C>G (p.Ala1893=)
|
|
|
NM_006031.6(PCNT):c.5682C>T (p.Val1894=)
|
|
|
NM_006031.6(PCNT):c.5698C>G (p.Arg1900Gly)
|
|
|
NM_006031.6(PCNT):c.5699G>A (p.Arg1900His)
|
|
|
NM_006031.6(PCNT):c.5707_5708delinsTT (p.Arg1903Phe)
|
rs2147674617
|
|
NM_006031.6(PCNT):c.5708G>A (p.Arg1903His)
|
rs776232288
|
|
NM_006031.6(PCNT):c.5710G>T (p.Ala1904Ser)
|
rs200426591
|
|
NM_006031.6(PCNT):c.5718G>A (p.Glu1906=)
|
|
|
NM_006031.6(PCNT):c.5719C>T (p.Gln1907Ter)
|
rs2086794191
|
|
NM_006031.6(PCNT):c.5720A>G (p.Gln1907Arg)
|
|
|
NM_006031.6(PCNT):c.5727_5736del (p.Leu1910fs)
|
rs587784312
|
|
NM_006031.6(PCNT):c.573A>C (p.Thr191=)
|
|
|
NM_006031.6(PCNT):c.5745G>A (p.Ala1915=)
|
|
|
NM_006031.6(PCNT):c.5751C>T (p.Pro1917=)
|
|
|
NM_006031.6(PCNT):c.5752G>T (p.Glu1918Ter)
|
|
|
NM_006031.6(PCNT):c.5757G>T (p.Leu1919=)
|
rs2147675654
|
|
NM_006031.6(PCNT):c.5768G>A (p.Arg1923Gln)
|
|
|
NM_006031.6(PCNT):c.576A>G (p.Pro192=)
|
|
|
NM_006031.6(PCNT):c.5772G>A (p.Ala1924=)
|
|
|
NM_006031.6(PCNT):c.5772G>T (p.Ala1924=)
|
|
|
NM_006031.6(PCNT):c.5774A>C (p.Gln1925Pro)
|
rs587784313
|
|
NM_006031.6(PCNT):c.5787C>T (p.Leu1929=)
|
|
|
NM_006031.6(PCNT):c.5791_5797del (p.Arg1931fs)
|
|
|
NM_006031.6(PCNT):c.5792G>A (p.Arg1931His)
|
rs776640595
|
|
NM_006031.6(PCNT):c.5792G>T (p.Arg1931Leu)
|
rs776640595
|
|
NM_006031.6(PCNT):c.5801A>C (p.Gln1934Pro)
|
|
|
NM_006031.6(PCNT):c.5808G>A (p.Leu1936=)
|
|
|
NM_006031.6(PCNT):c.5810_5811inv (p.His1937Arg)
|
|
|
NM_006031.6(PCNT):c.5811C>T (p.His1937=)
|
|
|
NM_006031.6(PCNT):c.5812C>T (p.Gln1938Ter)
|
|
|
NM_006031.6(PCNT):c.5813A>C (p.Gln1938Pro)
|
rs2086799208
|
|
NM_006031.6(PCNT):c.5817del (p.Phe1940fs)
|
|
|
NM_006031.6(PCNT):c.5819T>C (p.Phe1940Ser)
|
rs1460538855
|
|
NM_006031.6(PCNT):c.5820C>T (p.Phe1940=)
|
|
|
NM_006031.6(PCNT):c.5829C>T (p.Cys1943=)
|
|
|
NM_006031.6(PCNT):c.582G>A (p.Gln194=)
|
|
|
NM_006031.6(PCNT):c.5839C>T (p.Leu1947=)
|
|
|
NM_006031.6(PCNT):c.583C>T (p.Arg195Cys)
|
rs199564971
|
|
NM_006031.6(PCNT):c.5848C>T (p.Arg1950Trp)
|
|
|
NM_006031.6(PCNT):c.5871T>G (p.Ala1957=)
|
|
|
NM_006031.6(PCNT):c.5873A>T (p.His1958Leu)
|
|
|
NM_006031.6(PCNT):c.5874C>T (p.His1958=)
|
rs2086801367
|
|
NM_006031.6(PCNT):c.5877A>T (p.Thr1959=)
|
|
|
NM_006031.6(PCNT):c.5878C>T (p.Arg1960Trp)
|
|
|
NM_006031.6(PCNT):c.5879_5902del (p.Arg1960_Gln1967del)
|
|
|
NM_006031.6(PCNT):c.5881del (p.Val1961fs)
|
rs2147678255
|
|
NM_006031.6(PCNT):c.5886C>G (p.Pro1962=)
|
|
|
NM_006031.6(PCNT):c.5886C>T (p.Pro1962=)
|
|
|
NM_006031.6(PCNT):c.5890G>A (p.Ala1964Thr)
|
|
|
NM_006031.6(PCNT):c.5895C>T (p.His1965=)
|
|
|
NM_006031.6(PCNT):c.5901G>A (p.Gln1967=)
|
|
|
NM_006031.6(PCNT):c.5905C>T (p.Arg1969Cys)
|
|
|
NM_006031.6(PCNT):c.591_629del (p.Ile197_Gly209del)
|
rs761716576
|
|
NM_006031.6(PCNT):c.5920G>A (p.Ala1974Thr)
|
|
|
NM_006031.6(PCNT):c.5920G>T (p.Ala1974Ser)
|
|
|
NM_006031.6(PCNT):c.5928C>T (p.Ala1976=)
|
|
|
NM_006031.6(PCNT):c.5943C>T (p.Asp1981=)
|
|
|
NM_006031.6(PCNT):c.5955C>T (p.Ser1985=)
|
rs2147679862
|
|
NM_006031.6(PCNT):c.5967T>C (p.Ala1989=)
|
|
|
NM_006031.6(PCNT):c.5968T>C (p.Leu1990=)
|
|
|
NM_006031.6(PCNT):c.5976G>C (p.Pro1992=)
|
|
|
NM_006031.6(PCNT):c.5979_5981dup (p.Val1994dup)
|
rs2147680118
|
|
NM_006031.6(PCNT):c.597A>T (p.Thr199=)
|
|
|
NM_006031.6(PCNT):c.5982C>G (p.Val1994=)
|
rs552463011
|
|
NM_006031.6(PCNT):c.598A>G (p.Ile200Val)
|
|
|
NM_006031.6(PCNT):c.5994+11C>A
|
|
|
NM_006031.6(PCNT):c.5994+11C>G
|
|
|
NM_006031.6(PCNT):c.5994+11C>T
|
|
|
NM_006031.6(PCNT):c.5994+13C>T
|
|
|
NM_006031.6(PCNT):c.5994+13dup
|
rs772752236
|
|
NM_006031.6(PCNT):c.5994+14G>A
|
|
|
NM_006031.6(PCNT):c.5994+15C>A
|
|
|
NM_006031.6(PCNT):c.5994+15C>T
|
|
|
NM_006031.6(PCNT):c.5994+16G>A
|
|
|
NM_006031.6(PCNT):c.5994+16G>C
|
|
|
NM_006031.6(PCNT):c.5994+20C>A
|
|
|
NM_006031.6(PCNT):c.5994+59G>A
|
rs73909504
|
|
NM_006031.6(PCNT):c.5994+8C>T
|
|
|
NM_006031.6(PCNT):c.5995-12_5995-4del
|
rs759946797
|
|
NM_006031.6(PCNT):c.5995-13C>G
|
|
|
NM_006031.6(PCNT):c.5995-16T>C
|
|
|
NM_006031.6(PCNT):c.5995-17_5995-16del
|
|
|
NM_006031.6(PCNT):c.5995-20C>T
|
|
|
NM_006031.6(PCNT):c.5995-5T>C
|
|
|
NM_006031.6(PCNT):c.5995-6G>T
|
|
|
NM_006031.6(PCNT):c.5995-8C>T
|
|
|
NM_006031.6(PCNT):c.6015G>C (p.Leu2005=)
|
|
|
NM_006031.6(PCNT):c.6020C>T (p.Thr2007Met)
|
|
|
NM_006031.6(PCNT):c.6021G>A (p.Thr2007=)
|
|
|
NM_006031.6(PCNT):c.6024G>C (p.Leu2008Phe)
|
|
|
NM_006031.6(PCNT):c.6034C>G (p.Pro2012Ala)
|
|
|
NM_006031.6(PCNT):c.6036T>C (p.Pro2012=)
|
|
|
NM_006031.6(PCNT):c.6038dup (p.Cys2014fs)
|
|
|
NM_006031.6(PCNT):c.6039C>T (p.Leu2013=)
|
|
|
NM_006031.6(PCNT):c.6039_6040del (p.Cys2014fs)
|
|
|
NM_006031.6(PCNT):c.603T>C (p.Ser201=)
|
|
|
NM_006031.6(PCNT):c.6054C>T (p.Gly2018=)
|
|
|
NM_006031.6(PCNT):c.6055G>A (p.Val2019Met)
|
|
|
NM_006031.6(PCNT):c.6064G>A (p.Val2022Met)
|
rs2147696428
|
|
NM_006031.6(PCNT):c.6069C>G (p.Leu2023=)
|
|
|
NM_006031.6(PCNT):c.6069C>T (p.Leu2023=)
|
|
|
NM_006031.6(PCNT):c.6073G>A (p.Val2025Ile)
|
|
|
NM_006031.6(PCNT):c.6077G>A (p.Cys2026Tyr)
|
rs2147696688
|
|
NM_006031.6(PCNT):c.607del (p.His203fs)
|
rs767416279
|
|
NM_006031.6(PCNT):c.6081G>A (p.Gln2027=)
|
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NM_006031.6(PCNT):c.6087G>A (p.Gln2029=)
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NM_006031.6(PCNT):c.6095C>T (p.Ser2032Leu)
|
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NM_006031.6(PCNT):c.6103C>T (p.Leu2035Phe)
|
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NM_006031.6(PCNT):c.6111G>A (p.Val2037=)
|
rs1010254011
|
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NM_006031.6(PCNT):c.6125G>T (p.Arg2042Leu)
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NM_006031.6(PCNT):c.6126C>T (p.Arg2042=)
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NM_006031.6(PCNT):c.6135G>A (p.Leu2045=)
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NM_006031.6(PCNT):c.6142G>A (p.Gly2048Ser)
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NM_006031.6(PCNT):c.6145_6150+54del
|
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NM_006031.6(PCNT):c.6147C>T (p.Gly2049=)
|
rs2086841170
|
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NM_006031.6(PCNT):c.6150+109C>T
|
rs61544820
|
|
NM_006031.6(PCNT):c.6150+10_6150+11insCGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAG
|
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NM_006031.6(PCNT):c.6150+112G>A
|
rs10222118
|
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NM_006031.6(PCNT):c.6150+11G>A
|
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NM_006031.6(PCNT):c.6150+11G>C
|
rs10222116
|
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NM_006031.6(PCNT):c.6150+11G>T
|
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NM_006031.6(PCNT):c.6150+11_6150+130del
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NM_006031.6(PCNT):c.6150+11_6150+190del
|
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NM_006031.6(PCNT):c.6150+11_6150+70del
|
rs1569271924
|
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NM_006031.6(PCNT):c.6150+15_6150+135del
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NM_006031.6(PCNT):c.6150+15del
|
rs149690097
|
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NM_006031.6(PCNT):c.6150+16A>G
|
rs1351773151
|
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NM_006031.6(PCNT):c.6150+17A>G
|
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NM_006031.6(PCNT):c.6150+20C>T
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NM_006031.6(PCNT):c.6150+21_6150+140del
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NM_006031.6(PCNT):c.6150+21_6150+80del
|
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NM_006031.6(PCNT):c.6150+309A>G
|
rs4577376
|
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NM_006031.6(PCNT):c.6150+32_6150+33insTGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACAAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCGCGAGGTCCCCC
|
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|
NM_006031.6(PCNT):c.6150+34G>C
|
rs547655993
|
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NM_006031.6(PCNT):c.6150+44_6150+45insCACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACAAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCGCGAGGTCCCCCCGGGAGAGGCTG
|
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NM_006031.6(PCNT):c.6150+48_6150+49insTGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACAAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACAAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCGCGAGGTCCCCCCGGGAGAGGCTGGACA
|
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NM_006031.6(PCNT):c.6150+48_6150+49insTGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACAAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCGCGAGGTCCCCCCGGGAGAGGCTGGACA
|
|
|
NM_006031.6(PCNT):c.6150+48_6150+49insTGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACAAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCGCGAGGTCCCCCCGGGAGAGGCTGGACA
|
|
|
NM_006031.6(PCNT):c.6150+82_6150+83insAAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCGCGAGGTCCCCCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCAC
|
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|
NM_006031.6(PCNT):c.6150+82_6150+83insAAGGCCCACCCGGGAGAGGCTGGACACGTGGCAGCAAGGTGTGGGGAGCGGGGAAGGCGCGAGGTCCCCCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCAC
|
|
|
NM_006031.6(PCNT):c.6150+94G>C
|
rs113205962
|
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NM_006031.6(PCNT):c.6150+9A>C
|
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|
NM_006031.6(PCNT):c.6150+9A>T
|
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NM_006031.6(PCNT):c.6150+9del
|
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NM_006031.6(PCNT):c.6151-10T>C
|
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|
NM_006031.6(PCNT):c.6151-14T>C
|
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|
NM_006031.6(PCNT):c.6151-15C>G
|
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|
NM_006031.6(PCNT):c.6151-15C>T
|
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|
NM_006031.6(PCNT):c.6151-18G>A
|
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NM_006031.6(PCNT):c.6151-4G>A
|
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|
NM_006031.6(PCNT):c.6151-4G>T
|
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|
NM_006031.6(PCNT):c.6151-6C>G
|
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NM_006031.6(PCNT):c.6151-7C>T
|
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|
NM_006031.6(PCNT):c.615A>G (p.Ala205=)
|
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|
NM_006031.6(PCNT):c.6162A>G (p.Lys2054=)
|
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|
NM_006031.6(PCNT):c.6165A>G (p.Val2055=)
|
|
|
NM_006031.6(PCNT):c.6166C>T (p.Leu2056=)
|
rs2147768991
|
|
NM_006031.6(PCNT):c.6181C>T (p.Leu2061=)
|
|
|
NM_006031.6(PCNT):c.6186G>A (p.Pro2062=)
|
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NM_006031.6(PCNT):c.6186G>C (p.Pro2062=)
|
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|
NM_006031.6(PCNT):c.6193G>A (p.Asp2065Asn)
|
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|
NM_006031.6(PCNT):c.6198C>T (p.Leu2066=)
|
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NM_006031.6(PCNT):c.619C>T (p.Gln207Ter)
|
|
|
NM_006031.6(PCNT):c.6203C>G (p.Ala2068Gly)
|
rs2147769466
|
|
NM_006031.6(PCNT):c.6205C>G (p.Gln2069Glu)
|
|
|
NM_006031.6(PCNT):c.6225A>G (p.Glu2075=)
|
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|
NM_006031.6(PCNT):c.6235C>T (p.Arg2079Cys)
|
|
|
NM_006031.6(PCNT):c.6240G>A (p.Leu2080=)
|
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|
NM_006031.6(PCNT):c.6243G>C (p.Leu2081=)
|
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|
NM_006031.6(PCNT):c.6250A>G (p.Met2084Val)
|
|
|
NM_006031.6(PCNT):c.6258C>G (p.Phe2086Leu)
|
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|
NM_006031.6(PCNT):c.6258C>T (p.Phe2086=)
|
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|
NM_006031.6(PCNT):c.6262A>C (p.Asn2088His)
|
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|
NM_006031.6(PCNT):c.6267G>A (p.Val2089=)
|
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|
NM_006031.6(PCNT):c.6269A>G (p.Asp2090Gly)
|
|
|
NM_006031.6(PCNT):c.6270T>C (p.Asp2090=)
|
rs749943104
|
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NM_006031.6(PCNT):c.6273T>C (p.Ala2091=)
|
|
|
NM_006031.6(PCNT):c.6278A>G (p.Asp2093Gly)
|
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|
NM_006031.6(PCNT):c.6279C>T (p.Asp2093=)
|
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|
NM_006031.6(PCNT):c.6291G>A (p.Leu2097=)
|
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|
NM_006031.6(PCNT):c.6306A>G (p.Ser2102=)
|
|
|
NM_006031.6(PCNT):c.6309A>G (p.Ala2103=)
|
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|
NM_006031.6(PCNT):c.6315G>C (p.Leu2105=)
|
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|
NM_006031.6(PCNT):c.6316_6325del (p.Leu2106fs)
|
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|
NM_006031.6(PCNT):c.6324C>T (p.Ser2108=)
|
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|
NM_006031.6(PCNT):c.6341C>G (p.Ser2114Cys)
|
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|
NM_006031.6(PCNT):c.6342C>A (p.Ser2114=)
|
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|
NM_006031.6(PCNT):c.6344G>C (p.Cys2115Ser)
|
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|
NM_006031.6(PCNT):c.6345T>C (p.Cys2115=)
|
|
|
NM_006031.6(PCNT):c.6353A>G (p.Glu2118Gly)
|
rs1602028010
|
|
NM_006031.6(PCNT):c.6363C>A (p.Asp2121Glu)
|
|
|
NM_006031.6(PCNT):c.6366_6367del (p.Ser2123fs)
|
rs1064793985
|
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NM_006031.6(PCNT):c.6369A>G (p.Ser2123=)
|
|
|
NM_006031.6(PCNT):c.636A>G (p.Thr212=)
|
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|
NM_006031.6(PCNT):c.6372C>T (p.Pro2124=)
|
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|
NM_006031.6(PCNT):c.6379G>A (p.Asp2127Asn)
|
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|
NM_006031.6(PCNT):c.6381C>T (p.Asp2127=)
|
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|
NM_006031.6(PCNT):c.6383_6384insGTGTGATGCCAATACAGCCACGGGGGGTGTAACTGATGTTATCAAAAATCAGGCCATAGACGC (p.Thr2154_Thr2155insAlaThrGlyGlyValThrAspValIleLysAsnGlnAlaIleAspAlaCysAspAlaAsnThr)
|
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|
NM_006031.6(PCNT):c.639+16T>C
|
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|
NM_006031.6(PCNT):c.639+20T>A
|
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|
NM_006031.6(PCNT):c.639+8T>C
|
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|
NM_006031.6(PCNT):c.639+9T>C
|
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|
NM_006031.6(PCNT):c.640-12T>A
|
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|
NM_006031.6(PCNT):c.640-1G>A
|
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|
NM_006031.6(PCNT):c.640-4C>T
|
|
|
NM_006031.6(PCNT):c.640-8T>G
|
rs587784314
|
|
NM_006031.6(PCNT):c.6405G>A (p.Thr2135=)
|
|
|
NM_006031.6(PCNT):c.6408G>A (p.Gly2136=)
|
|
|
NM_006031.6(PCNT):c.6410dup (p.Val2138fs)
|
rs1173590566
|
|
NM_006031.6(PCNT):c.6412G>A (p.Val2138Ile)
|
rs770179351
|
|
NM_006031.6(PCNT):c.6421G>T (p.Val2141Phe)
|
rs774154341
|
|
NM_006031.6(PCNT):c.642G>A (p.Glu214=)
|
|
|
NM_006031.6(PCNT):c.6433_6495del (p.Gln2145_Asn2165del)
|
|
|
NM_006031.6(PCNT):c.6435G>A (p.Gln2145=)
|
|
|
NM_006031.6(PCNT):c.6438C>T (p.Ala2146=)
|
|
|
NM_006031.6(PCNT):c.6439A>G (p.Ile2147Val)
|
|
|
NM_006031.6(PCNT):c.6444C>T (p.Asp2148=)
|
|
|
NM_006031.6(PCNT):c.6445G>A (p.Ala2149Thr)
|
|
|
NM_006031.6(PCNT):c.6445G>T (p.Ala2149Ser)
|
|
|
NM_006031.6(PCNT):c.6445dup (p.Ala2149fs)
|
|
|
NM_006031.6(PCNT):c.6446C>T (p.Ala2149Val)
|
|
|
NM_006031.6(PCNT):c.6447G>T (p.Ala2149=)
|
|
|
NM_006031.6(PCNT):c.6462A>G (p.Thr2154=)
|
|
|
NM_006031.6(PCNT):c.6468A>G (p.Pro2156=)
|
rs886057189
|
|
NM_006031.6(PCNT):c.6473G>A (p.Gly2158Asp)
|
|
|
NM_006031.6(PCNT):c.6480T>C (p.Thr2160=)
|
|
|
NM_006031.6(PCNT):c.6489C>A (p.Ile2163=)
|
|
|
NM_006031.6(PCNT):c.6494A>G (p.Asn2165Ser)
|
|
|
NM_006031.6(PCNT):c.6496T>G (p.Trp2166Gly)
|
|
|
NM_006031.6(PCNT):c.6512C>T (p.Pro2171Leu)
|
|
|
NM_006031.6(PCNT):c.6515A>G (p.Asp2172Gly)
|
|
|
NM_006031.6(PCNT):c.6519A>G (p.Glu2173=)
|
|
|
NM_006031.6(PCNT):c.651A>G (p.Gln217=)
|
|
|
NM_006031.6(PCNT):c.6534C>G (p.Pro2178=)
|
|
|
NM_006031.6(PCNT):c.6538del (p.Gln2180fs)
|
|
|
NM_006031.6(PCNT):c.6549A>G (p.Ser2183=)
|
|
|
NM_006031.6(PCNT):c.654A>G (p.Glu218=)
|
|
|
NM_006031.6(PCNT):c.6556C>T (p.Gln2186Ter)
|
|
|
NM_006031.6(PCNT):c.6559G>T (p.Asp2187Tyr)
|
|
|
NM_006031.6(PCNT):c.6561C>T (p.Asp2187=)
|
|
|
NM_006031.6(PCNT):c.6564_6565del (p.Met2188fs)
|
|
|
NM_006031.6(PCNT):c.6570T>C (p.Leu2190=)
|
|
|
NM_006031.6(PCNT):c.6578C>G (p.Pro2193Arg)
|
|
|
NM_006031.6(PCNT):c.6578C>T (p.Pro2193Leu)
|
rs368565898
|
|
NM_006031.6(PCNT):c.6578_6579delinsGA (p.Pro2193Arg)
|
|
|
NM_006031.6(PCNT):c.6585C>T (p.Ser2195=)
|
rs372022297
|
|
NM_006031.6(PCNT):c.658G>T (p.Glu220Ter)
|
rs119479061
|
|
NM_006031.6(PCNT):c.6601C>T (p.Arg2201Cys)
|
|
|
NM_006031.6(PCNT):c.6603C>T (p.Arg2201=)
|
|
|
NM_006031.6(PCNT):c.6606C>T (p.His2202=)
|
|
|
NM_006031.6(PCNT):c.6612C>T (p.Ser2204=)
|
|
|
NM_006031.6(PCNT):c.6621A>C (p.Ala2207=)
|
|
|
NM_006031.6(PCNT):c.6630G>A (p.Gly2210=)
|
|
|
NM_006031.6(PCNT):c.6633C>T (p.Pro2211=)
|
rs587784316
|
|
NM_006031.6(PCNT):c.6639G>A (p.Lys2213=)
|
|
|
NM_006031.6(PCNT):c.6642C>T (p.Ser2214=)
|
|
|
NM_006031.6(PCNT):c.6643C>G (p.Pro2215Ala)
|
|
|
NM_006031.6(PCNT):c.6649G>A (p.Gly2217Arg)
|
|
|
NM_006031.6(PCNT):c.6651G>A (p.Gly2217=)
|
rs755119869
|
|
NM_006031.6(PCNT):c.6660C>T (p.Asp2220=)
|
|
|
NM_006031.6(PCNT):c.6675C>T (p.Ser2225=)
|
|
|
NM_006031.6(PCNT):c.6678C>T (p.Ser2226=)
|
|
|
NM_006031.6(PCNT):c.6690C>T (p.Leu2230=)
|
|
|
NM_006031.6(PCNT):c.6707T>C (p.Leu2236Pro)
|
|
|
NM_006031.6(PCNT):c.671C>G (p.Thr224Ser)
|
|
|
NM_006031.6(PCNT):c.6720C>T (p.Pro2240=)
|
|
|
NM_006031.6(PCNT):c.6720del (p.Ser2241fs)
|
|
|
NM_006031.6(PCNT):c.6729C>T (p.Pro2243=)
|
|
|
NM_006031.6(PCNT):c.6730G>A (p.Val2244Met)
|
rs770515274
|
|
NM_006031.6(PCNT):c.6733A>T (p.Thr2245Ser)
|
rs773757779
|
|
NM_006031.6(PCNT):c.6735A>T (p.Thr2245=)
|
|
|
NM_006031.6(PCNT):c.6741C>T (p.His2247=)
|
|
|
NM_006031.6(PCNT):c.6743C>T (p.Ser2248Leu)
|
|
|
NM_006031.6(PCNT):c.6756C>T (p.Ser2252=)
|
|
|
NM_006031.6(PCNT):c.6761G>T (p.Cys2254Phe)
|
|
|
NM_006031.6(PCNT):c.6762C>T (p.Cys2254=)
|
|
|
NM_006031.6(PCNT):c.6769G>A (p.Asp2257Asn)
|
|
|
NM_006031.6(PCNT):c.676C>T (p.Leu226=)
|
|
|
NM_006031.6(PCNT):c.6770A>G (p.Asp2257Gly)
|
|
|
NM_006031.6(PCNT):c.6779T>C (p.Leu2260Pro)
|
|
|
NM_006031.6(PCNT):c.6780G>C (p.Leu2260=)
|
|
|
NM_006031.6(PCNT):c.6781G>A (p.Gly2261Arg)
|
|
|
NM_006031.6(PCNT):c.6782G>A (p.Gly2261Glu)
|
|
|
NM_006031.6(PCNT):c.6783G>A (p.Gly2261=)
|
|
|
NM_006031.6(PCNT):c.6786C>T (p.Asp2262=)
|
|
|
NM_006031.6(PCNT):c.6790G>A (p.Ala2264Thr)
|
rs771286324
|
|
NM_006031.6(PCNT):c.6799T>C (p.Ser2267Pro)
|
|
|
NM_006031.6(PCNT):c.6801G>A (p.Ser2267=)
|
|
|
NM_006031.6(PCNT):c.6810G>C (p.Gln2270His)
|
|
|
NM_006031.6(PCNT):c.6810G>T (p.Gln2270His)
|
|
|
NM_006031.6(PCNT):c.6831T>C (p.Leu2277=)
|
|
|
NM_006031.6(PCNT):c.6840A>G (p.Pro2280=)
|
|
|
NM_006031.6(PCNT):c.684C>T (p.Ser228=)
|
|
|
NM_006031.6(PCNT):c.6852A>G (p.Ala2284=)
|
|
|
NM_006031.6(PCNT):c.6853G>A (p.Ala2285Thr)
|
|
|
NM_006031.6(PCNT):c.6856G>A (p.Ala2286Thr)
|
|
|
NM_006031.6(PCNT):c.6858G>A (p.Ala2286=)
|
|
|
NM_006031.6(PCNT):c.6861G>A (p.Leu2287=)
|
|
|
NM_006031.6(PCNT):c.6864A>C (p.Ala2288=)
|
|
|
NM_006031.6(PCNT):c.6872G>A (p.Trp2291Ter)
|
|
|
NM_006031.6(PCNT):c.687C>T (p.Gly229=)
|
|
|
NM_006031.6(PCNT):c.6882T>C (p.Ser2294=)
|
|
|
NM_006031.6(PCNT):c.6888G>T (p.Pro2296=)
|
|
|
NM_006031.6(PCNT):c.6890C>T (p.Ala2297Val)
|
|
|
NM_006031.6(PCNT):c.6899del (p.His2300fs)
|
|
|
NM_006031.6(PCNT):c.689G>A (p.Arg230His)
|
|
|
NM_006031.6(PCNT):c.6903T>C (p.His2301=)
|
|
|
NM_006031.6(PCNT):c.6914C>A (p.Thr2305Lys)
|
|
|
NM_006031.6(PCNT):c.6914C>T (p.Thr2305Met)
|
rs770226991
|
|
NM_006031.6(PCNT):c.6915G>A (p.Thr2305=)
|
|
|
NM_006031.6(PCNT):c.6921+13T>C
|
|
|
NM_006031.6(PCNT):c.6921+13T>G
|
|
|
NM_006031.6(PCNT):c.6921+14C>G
|
|
|
NM_006031.6(PCNT):c.6921+20C>T
|
|
|
NM_006031.6(PCNT):c.6922-11T>C
|
|
|
NM_006031.6(PCNT):c.6922-17dup
|
|
|
NM_006031.6(PCNT):c.6922-1G>A
|
|
|
NM_006031.6(PCNT):c.6922-20A>G
|
|
|
NM_006031.6(PCNT):c.6922-4A>T
|
rs587784317
|
|
NM_006031.6(PCNT):c.6922-4_6922-2del
|
|
|
NM_006031.6(PCNT):c.6922-5A>G
|
|
|
NM_006031.6(PCNT):c.6922-5_6922-4insCCTGA
|
rs59957960
|
|
NM_006031.6(PCNT):c.6922-5_6922-4insTCTGA
|
rs59957960
|
|
NM_006031.6(PCNT):c.6922-6T>C
|
|
|
NM_006031.6(PCNT):c.6922-7_6922-6del
|
|
|
NM_006031.6(PCNT):c.6922-8_6922-7del
|
|
|
NM_006031.6(PCNT):c.6922-9T>A
|
|
|
NM_006031.6(PCNT):c.6928G>A (p.Asp2310Asn)
|
|
|
NM_006031.6(PCNT):c.6935A>C (p.Glu2312Ala)
|
rs2147796645
|
|
NM_006031.6(PCNT):c.6943dup (p.Ile2315fs)
|
|
|
NM_006031.6(PCNT):c.6974T>G (p.Leu2325Ter)
|
|
|
NM_006031.6(PCNT):c.6975A>G (p.Leu2325=)
|
|
|
NM_006031.6(PCNT):c.6981A>G (p.Ser2327=)
|
|
|
NM_006031.6(PCNT):c.6981A>T (p.Ser2327=)
|
|
|
NM_006031.6(PCNT):c.6984T>A (p.Pro2328=)
|
|
|
NM_006031.6(PCNT):c.7016G>A (p.Ser2339Asn)
|
rs1306140699
|
|
NM_006031.6(PCNT):c.7024+12A>G
|
|
|
NM_006031.6(PCNT):c.7024+19A>G
|
|
|
NM_006031.6(PCNT):c.7024+1G>A
|
|
|
NM_006031.6(PCNT):c.7024+1G>C
|
|
|
NM_006031.6(PCNT):c.7024+20T>C
|
|
|
NM_006031.6(PCNT):c.7025-15C>T
|
|
|
NM_006031.6(PCNT):c.7025-16C>T
|
|
|
NM_006031.6(PCNT):c.7025-17C>A
|
|
|
NM_006031.6(PCNT):c.7025-3del
|
|
|
NM_006031.6(PCNT):c.7025-8G>A
|
|
|
NM_006031.6(PCNT):c.7026dup (p.Asp2343Ter)
|
rs2147850264
|
|
NM_006031.6(PCNT):c.7034C>T (p.Ser2345Leu)
|
|
|
NM_006031.6(PCNT):c.7059G>A (p.Pro2353=)
|
rs149413536
|
|
NM_006031.6(PCNT):c.7059G>C (p.Pro2353=)
|
|
|
NM_006031.6(PCNT):c.7062G>A (p.Gly2354=)
|
|
|
NM_006031.6(PCNT):c.7062G>C (p.Gly2354=)
|
|
|
NM_006031.6(PCNT):c.7062G>T (p.Gly2354=)
|
|
|
NM_006031.6(PCNT):c.7064C>T (p.Ser2355Leu)
|
|
|
NM_006031.6(PCNT):c.7066G>C (p.Gly2356Arg)
|
|
|
NM_006031.6(PCNT):c.7071C>G (p.Gly2357=)
|
rs1211115206
|
|
NM_006031.6(PCNT):c.7078G>T (p.Ala2360Ser)
|
|
|
NM_006031.6(PCNT):c.708G>T (p.Leu236=)
|
|
|
NM_006031.6(PCNT):c.7126C>T (p.Gln2376Ter)
|
rs1555993038
|
|
NM_006031.6(PCNT):c.7128G>T (p.Gln2376His)
|
rs2147851397
|
|
NM_006031.6(PCNT):c.7131G>A (p.Pro2377=)
|
|
|
NM_006031.6(PCNT):c.7131G>T (p.Pro2377=)
|
|
|
NM_006031.6(PCNT):c.7134G>C (p.Leu2378=)
|
|
|
NM_006031.6(PCNT):c.7137G>A (p.Pro2379=)
|
|
|
NM_006031.6(PCNT):c.7140A>G (p.Glu2380=)
|
|
|
NM_006031.6(PCNT):c.7145T>C (p.Met2382Thr)
|
|
|
NM_006031.6(PCNT):c.7151A>G (p.Glu2384Gly)
|
rs2147851642
|
|
NM_006031.6(PCNT):c.7162C>T (p.Arg2388Cys)
|
rs201562329
|
|
NM_006031.6(PCNT):c.7163G>A (p.Arg2388His)
|
|
|
NM_006031.6(PCNT):c.7173C>T (p.His2391=)
|
|
|
NM_006031.6(PCNT):c.7174G>A (p.Val2392Met)
|
|
|
NM_006031.6(PCNT):c.7175_7176dup (p.Lys2393Ter)
|
|
|
NM_006031.6(PCNT):c.7179+11C>T
|
|
|
NM_006031.6(PCNT):c.7179+12del
|
|
|
NM_006031.6(PCNT):c.7179+16G>A
|
|
|
NM_006031.6(PCNT):c.7179+16del
|
|
|
NM_006031.6(PCNT):c.7179+308_7179+324dup
|
rs58502414
|
|
NM_006031.6(PCNT):c.7180-10C>G
|
|
|
NM_006031.6(PCNT):c.7180-17G>A
|
|
|
NM_006031.6(PCNT):c.7180-17G>C
|
|
|
NM_006031.6(PCNT):c.7180-17G>T
|
|
|
NM_006031.6(PCNT):c.7180-18C>T
|
|
|
NM_006031.6(PCNT):c.7180-41G>T
|
rs8128866
|
|
NM_006031.6(PCNT):c.7180-5_7180-4insTCCGCC
|
|
|
NM_006031.6(PCNT):c.7180-7G>T
|
|
|
NM_006031.6(PCNT):c.7180-8C>G
|
|
|
NM_006031.6(PCNT):c.7188G>A (p.Leu2396=)
|
|
|
NM_006031.6(PCNT):c.7197G>A (p.Val2399=)
|
|
|
NM_006031.6(PCNT):c.7199G>A (p.Arg2400His)
|
|
|
NM_006031.6(PCNT):c.720+10C>T
|
|
|
NM_006031.6(PCNT):c.720+11G>A
|
|
|
NM_006031.6(PCNT):c.720+13G>A
|
|
|
NM_006031.6(PCNT):c.720+15C>T
|
|
|
NM_006031.6(PCNT):c.720+17_720+18inv
|
|
|
NM_006031.6(PCNT):c.720+7C>T
|
|
|
NM_006031.6(PCNT):c.720+8G>A
|
|
|
NM_006031.6(PCNT):c.7203C>T (p.Asp2401=)
|
|
|
NM_006031.6(PCNT):c.7204G>A (p.Glu2402Lys)
|
|
|
NM_006031.6(PCNT):c.721-11C>T
|
|
|
NM_006031.6(PCNT):c.721-13T>G
|
rs748762743
|
|
NM_006031.6(PCNT):c.721-17C>A
|
|
|
NM_006031.6(PCNT):c.721-17C>T
|
|
|
NM_006031.6(PCNT):c.721-20A>G
|
|
|
NM_006031.6(PCNT):c.721-4G>A
|
|
|
NM_006031.6(PCNT):c.721-7G>C
|
|
|
NM_006031.6(PCNT):c.721-7G>T
|
rs2839217
|
|
NM_006031.6(PCNT):c.721-8C>T
|
|
|
NM_006031.6(PCNT):c.721-9C>T
|
|
|
NM_006031.6(PCNT):c.7221G>A (p.Leu2407=)
|
|
|
NM_006031.6(PCNT):c.7223C>T (p.Ala2408Val)
|
|
|
NM_006031.6(PCNT):c.723C>T (p.Ala241=)
|
|
|
NM_006031.6(PCNT):c.7246C>A (p.Pro2416Thr)
|
|
|
NM_006031.6(PCNT):c.7246C>G (p.Pro2416Ala)
|
|
|
NM_006031.6(PCNT):c.7246C>T (p.Pro2416Ser)
|
rs576796827
|
|
NM_006031.6(PCNT):c.7251C>T (p.Ser2417=)
|
|
|
NM_006031.6(PCNT):c.7268C>G (p.Pro2423Arg)
|
|
|
NM_006031.6(PCNT):c.7270C>T (p.Arg2424Trp)
|
|
|
NM_006031.6(PCNT):c.7272del (p.Lys2425fs)
|
|
|
NM_006031.6(PCNT):c.7284G>A (p.Glu2428=)
|
|
|
NM_006031.6(PCNT):c.7298C>G (p.Ser2433Trp)
|
|
|
NM_006031.6(PCNT):c.7299G>A (p.Ser2433=)
|
|
|
NM_006031.6(PCNT):c.7299_7300del (p.Leu2434fs)
|
|
|
NM_006031.6(PCNT):c.729T>C (p.His243=)
|
|
|
NM_006031.6(PCNT):c.7310del (p.Gly2437fs)
|
|
|
NM_006031.6(PCNT):c.7317G>A (p.Thr2439=)
|
rs759593322
|
|
NM_006031.6(PCNT):c.7317G>T (p.Thr2439=)
|
|
|
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+10G>A
|
|
|
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+12C>T
|
|
|
NM_006031.6(PCNT):c.7320+130_7320+131insAGAGTCTCGCTGTCTCTACCAGGCTGGAGTGCAGTGGCACAATC
|
rs1555996907
|
|
NM_006031.6(PCNT):c.7320+14T>G
|
|
|
NM_006031.6(PCNT):c.7320+16C>T
|
|
|
NM_006031.6(PCNT):c.7320+17A>G
|
|
|
NM_006031.6(PCNT):c.7320+20C>T
|
|
|
NM_006031.6(PCNT):c.7320+9del
|
|
|
NM_006031.6(PCNT):c.7321-10C>G
|
|
|
NM_006031.6(PCNT):c.7321-11T>C
|
|
|
NM_006031.6(PCNT):c.7321-13C>T
|
|
|
NM_006031.6(PCNT):c.7321-13_7321-10del
|
|
|
NM_006031.6(PCNT):c.7321-14C>G
|
|
|
NM_006031.6(PCNT):c.7321-17C>G
|
|
|
NM_006031.6(PCNT):c.7321-1G>A
|
|
|
NM_006031.6(PCNT):c.7321-5T>C
|
|
|
NM_006031.6(PCNT):c.7321-7_7321-4del
|
|
|
NM_006031.6(PCNT):c.7335G>T (p.Ala2445=)
|
|
|
NM_006031.6(PCNT):c.7337G>T (p.Cys2446Phe)
|
|
|
NM_006031.6(PCNT):c.7341C>T (p.Pro2447=)
|
|
|
NM_006031.6(PCNT):c.7344T>C (p.Asp2448=)
|
|
|
NM_006031.6(PCNT):c.7347G>A (p.Trp2449Ter)
|
|
|
NM_006031.6(PCNT):c.7354G>T (p.Asp2452Tyr)
|
rs1006896204
|
|
NM_006031.6(PCNT):c.735T>C (p.Leu245=)
|
|
|
NM_006031.6(PCNT):c.7360C>T (p.Leu2454=)
|
|
|
NM_006031.6(PCNT):c.7362G>A (p.Leu2454=)
|
|
|
NM_006031.6(PCNT):c.7362G>T (p.Leu2454=)
|
|
|
NM_006031.6(PCNT):c.7366_7369dup (p.Val2457fs)
|
|
|
NM_006031.6(PCNT):c.7371G>A (p.Val2457=)
|
|
|
NM_006031.6(PCNT):c.7380C>A (p.Ala2460=)
|
|
|
NM_006031.6(PCNT):c.7380C>T (p.Ala2460=)
|
|
|
NM_006031.6(PCNT):c.7392G>A (p.Glu2464=)
|
|
|
NM_006031.6(PCNT):c.7407_7408insTC (p.Val2470fs)
|
|
|
NM_006031.6(PCNT):c.7429_7430del (p.Ser2477fs)
|
|
|
NM_006031.6(PCNT):c.7432G>C (p.Gly2478Arg)
|
|
|
NM_006031.6(PCNT):c.7434C>T (p.Gly2478=)
|
|
|
NM_006031.6(PCNT):c.7446G>A (p.Gly2482=)
|
|
|
NM_006031.6(PCNT):c.7446G>C (p.Gly2482=)
|
rs1313984367
|
|
NM_006031.6(PCNT):c.7448dup (p.His2484fs)
|
|
|
NM_006031.6(PCNT):c.7454G>T (p.Ser2485Ile)
|
rs797045880
|
|
NM_006031.6(PCNT):c.7460T>G (p.Leu2487Arg)
|
|
|
NM_006031.6(PCNT):c.7461G>T (p.Leu2487=)
|
|
|
NM_006031.6(PCNT):c.7464C>G (p.Leu2488=)
|
rs572321857
|
|
NM_006031.6(PCNT):c.7464C>T (p.Leu2488=)
|
|
|
NM_006031.6(PCNT):c.7477A>G (p.Lys2493Glu)
|
rs2087570845
|
|
NM_006031.6(PCNT):c.747G>A (p.Ala249=)
|
|
|
NM_006031.6(PCNT):c.747G>T (p.Ala249=)
|
|
|
NM_006031.6(PCNT):c.7482C>A (p.Ile2494=)
|
|
|
NM_006031.6(PCNT):c.7482C>G (p.Ile2494Met)
|
|
|
NM_006031.6(PCNT):c.7482C>T (p.Ile2494=)
|
|
|
NM_006031.6(PCNT):c.7488T>G (p.Arg2496=)
|
|
|
NM_006031.6(PCNT):c.7492C>T (p.Gln2498Ter)
|
|
|
NM_006031.6(PCNT):c.7494+11G>C
|
|
|
NM_006031.6(PCNT):c.7494+17C>T
|
|
|
NM_006031.6(PCNT):c.7494+1G>A
|
rs760423461
|
|
NM_006031.6(PCNT):c.7495-14C>T
|
|
|
NM_006031.6(PCNT):c.7495-18G>A
|
|
|
NM_006031.6(PCNT):c.7495-3C>G
|
|
|
NM_006031.6(PCNT):c.7495-5C>G
|
|
|
NM_006031.6(PCNT):c.7495-7C>T
|
|
|
NM_006031.6(PCNT):c.7495-8G>A
|
|
|
NM_006031.6(PCNT):c.7503G>A (p.Leu2501=)
|
|
|
NM_006031.6(PCNT):c.7511del (p.Lys2504fs)
|
rs2147940284
|
|
NM_006031.6(PCNT):c.7516C>T (p.Leu2506=)
|
|
|
NM_006031.6(PCNT):c.7529G>A (p.Arg2510His)
|
|
|
NM_006031.6(PCNT):c.7530C>G (p.Arg2510=)
|
|
|
NM_006031.6(PCNT):c.7540C>T (p.Arg2514Trp)
|
|
|
NM_006031.6(PCNT):c.7548C>T (p.Ser2516=)
|
|
|
NM_006031.6(PCNT):c.7554G>C (p.Leu2518=)
|
|
|
NM_006031.6(PCNT):c.7559_7561delinsGGCC (p.Glu2520fs)
|
rs1601176084
|
|
NM_006031.6(PCNT):c.7562T>C (p.Ile2521Thr)
|
rs1415348820
|
|
NM_006031.6(PCNT):c.7564C>T (p.Gln2522Ter)
|
|
|
NM_006031.6(PCNT):c.7567G>A (p.Ala2523Thr)
|
|
|
NM_006031.6(PCNT):c.7569G>A (p.Ala2523=)
|
|
|
NM_006031.6(PCNT):c.7569G>T (p.Ala2523=)
|
|
|
NM_006031.6(PCNT):c.7578C>G (p.Ala2526=)
|
|
|
NM_006031.6(PCNT):c.7579C>T (p.Gln2527Ter)
|
|
|
NM_006031.6(PCNT):c.7581G>A (p.Gln2527=)
|
|
|
NM_006031.6(PCNT):c.7596C>T (p.His2532=)
|
rs2087604880
|
|
NM_006031.6(PCNT):c.7601A>G (p.Gln2534Arg)
|
|
|
NM_006031.6(PCNT):c.7614G>A (p.Lys2538=)
|
|
|
NM_006031.6(PCNT):c.7615C>T (p.Leu2539=)
|
|
|
NM_006031.6(PCNT):c.7617G>A (p.Leu2539=)
|
|
|
NM_006031.6(PCNT):c.7624_7631del (p.Leu2542fs)
|
|
|
NM_006031.6(PCNT):c.7635G>A (p.Ala2545=)
|
|
|
NM_006031.6(PCNT):c.7635G>T (p.Ala2545=)
|
|
|
NM_006031.6(PCNT):c.7648G>A (p.Glu2550Lys)
|
rs71326327
|
|
NM_006031.6(PCNT):c.764G>A (p.Ser255Asn)
|
|
|
NM_006031.6(PCNT):c.7653G>T (p.Ala2551=)
|
|
|
NM_006031.6(PCNT):c.7657G>C (p.Gly2553Arg)
|
rs772478708
|
|
NM_006031.6(PCNT):c.765C>T (p.Ser255=)
|
|
|
NM_006031.6(PCNT):c.7663C>T (p.Gln2555Ter)
|
|
|
NM_006031.6(PCNT):c.7668G>A (p.Gln2556=)
|
|
|
NM_006031.6(PCNT):c.7674C>T (p.His2558=)
|
|
|
NM_006031.6(PCNT):c.7675C>T (p.Gln2559Ter)
|
|
|
NM_006031.6(PCNT):c.767A>G (p.Asn256Ser)
|
rs559025459
|
|
NM_006031.6(PCNT):c.7681C>G (p.Arg2561Gly)
|
rs751345838
|
|
NM_006031.6(PCNT):c.7682G>A (p.Arg2561His)
|
|
|
NM_006031.6(PCNT):c.7682G>T (p.Arg2561Leu)
|
|
|
NM_006031.6(PCNT):c.7683C>T (p.Arg2561=)
|
|
|
NM_006031.6(PCNT):c.7688del (p.Gln2563fs)
|
|
|
NM_006031.6(PCNT):c.7689G>C (p.Gln2563His)
|
|
|
NM_006031.6(PCNT):c.7690+16T>C
|
|
|
NM_006031.6(PCNT):c.7690+17A>C
|
|
|
NM_006031.6(PCNT):c.7690+17A>G
|
|
|
NM_006031.6(PCNT):c.7690+19A>G
|
|
|
NM_006031.6(PCNT):c.7690+1G>T
|
|
|
NM_006031.6(PCNT):c.7690+20C>G
|
|
|
NM_006031.6(PCNT):c.7690+2_7690+3del
|
|
|
NM_006031.6(PCNT):c.7690+5G>A
|
rs754618153
|
|
NM_006031.6(PCNT):c.7690+8T>C
|
rs2147942558
|
|
NM_006031.6(PCNT):c.7691-10T>G
|
|
|
NM_006031.6(PCNT):c.7691-16C>A
|
|
|
NM_006031.6(PCNT):c.7691-16C>G
|
|
|
NM_006031.6(PCNT):c.7691-18T>C
|
|
|
NM_006031.6(PCNT):c.7691-19G>A
|
|
|
NM_006031.6(PCNT):c.7691-19G>C
|
|
|
NM_006031.6(PCNT):c.7691-1G>A
|
|
|
NM_006031.6(PCNT):c.7691-20T>C
|
|
|
NM_006031.6(PCNT):c.7691-5C>T
|
|
|
NM_006031.6(PCNT):c.7691-95A>G
|
rs149884710
|
|
NM_006031.6(PCNT):c.7696C>T (p.Leu2566=)
|
|
|
NM_006031.6(PCNT):c.7702G>T (p.Ala2568Ser)
|
|
|
NM_006031.6(PCNT):c.7713A>G (p.Val2571=)
|
|
|
NM_006031.6(PCNT):c.7714G>A (p.Glu2572Lys)
|
|
|
NM_006031.6(PCNT):c.7725G>C (p.Lys2575Asn)
|
|
|
NM_006031.6(PCNT):c.7727G>A (p.Cys2576Tyr)
|
rs2147962858
|
|
NM_006031.6(PCNT):c.7736G>A (p.Gly2579Asp)
|
|
|
NM_006031.6(PCNT):c.7740C>T (p.Asp2580=)
|
|
|
NM_006031.6(PCNT):c.7752G>A (p.Thr2584=)
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|
|
NM_006031.6(PCNT):c.7772A>G (p.Lys2591Arg)
|
|
|
NM_006031.6(PCNT):c.7779C>T (p.Asn2593=)
|
|
|
NM_006031.6(PCNT):c.777G>A (p.Thr259=)
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|
|
NM_006031.6(PCNT):c.7782C>T (p.Ser2594=)
|
|
|
NM_006031.6(PCNT):c.7783G>A (p.Val2595Met)
|
|
|
NM_006031.6(PCNT):c.7796del (p.Leu2599fs)
|
rs587784319
|
|
NM_006031.6(PCNT):c.7799C>T (p.Ala2600Val)
|
|
|
NM_006031.6(PCNT):c.7800_7801inv (p.Ala2601Pro)
|
|
|
NM_006031.6(PCNT):c.7802C>T (p.Ala2601Val)
|
|
|
NM_006031.6(PCNT):c.7804G>T (p.Glu2602Ter)
|
rs1555999948
|
|
NM_006031.6(PCNT):c.780G>A (p.Ala260=)
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|
|
NM_006031.6(PCNT):c.780G>T (p.Ala260=)
|
rs759573809
|
|
NM_006031.6(PCNT):c.7819C>T (p.Arg2607Ter)
|
rs749426946
|
|
NM_006031.6(PCNT):c.7820G>A (p.Arg2607Gln)
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|
NM_006031.6(PCNT):c.7821A>T (p.Arg2607=)
|
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|
NM_006031.6(PCNT):c.783G>A (p.Gln261=)
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|
NM_006031.6(PCNT):c.7842_7843del (p.Cys2614_Glu2615delinsTer)
|
rs2147963975
|
|
NM_006031.6(PCNT):c.7850G>A (p.Arg2617Lys)
|
|
|
NM_006031.6(PCNT):c.7860C>T (p.Ser2620=)
|
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|
NM_006031.6(PCNT):c.7866G>A (p.Gln2622=)
|
|
|
NM_006031.6(PCNT):c.7871C>G (p.Ser2624Cys)
|
|
|
NM_006031.6(PCNT):c.7873C>T (p.Arg2625Trp)
|
|
|
NM_006031.6(PCNT):c.7875G>A (p.Arg2625=)
|
|
|
NM_006031.6(PCNT):c.7878C>T (p.Ser2626=)
|
|
|
NM_006031.6(PCNT):c.7883G>T (p.Cys2628Phe)
|
|
|
NM_006031.6(PCNT):c.7884C>T (p.Cys2628=)
|
|
|
NM_006031.6(PCNT):c.7885G>A (p.Glu2629Lys)
|
|
|
NM_006031.6(PCNT):c.7887G>A (p.Glu2629=)
|
|
|
NM_006031.6(PCNT):c.7891C>T (p.Gln2631Ter)
|
|
|
NM_006031.6(PCNT):c.7902C>T (p.Val2634=)
|
|
|
NM_006031.6(PCNT):c.7903C>T (p.Leu2635Phe)
|
rs372068143
|
|
NM_006031.6(PCNT):c.790C>T (p.Leu264=)
|
|
|
NM_006031.6(PCNT):c.7913+14C>G
|
|
|
NM_006031.6(PCNT):c.7913+5G>A
|
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|
NM_006031.6(PCNT):c.7913+7C>T
|
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|
NM_006031.6(PCNT):c.7913+9G>T
|
|
|
NM_006031.6(PCNT):c.7914-10C>T
|
|
|
NM_006031.6(PCNT):c.7914-13T>C
|
|
|
NM_006031.6(PCNT):c.7914-15G>A
|
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|
NM_006031.6(PCNT):c.7914-18T>G
|
|
|
NM_006031.6(PCNT):c.7914-4G>C
|
|
|
NM_006031.6(PCNT):c.7914-8C>T
|
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|
NM_006031.6(PCNT):c.7917C>T (p.Ser2639=)
|
|
|
NM_006031.6(PCNT):c.7921C>T (p.Leu2641=)
|
|
|
NM_006031.6(PCNT):c.7923G>A (p.Leu2641=)
|
|
|
NM_006031.6(PCNT):c.7925G>A (p.Ser2642Asn)
|
|
|
NM_006031.6(PCNT):c.7938C>G (p.Asn2646Lys)
|
|
|
NM_006031.6(PCNT):c.7938C>T (p.Asn2646=)
|
|
|
NM_006031.6(PCNT):c.7949C>T (p.Ala2650Val)
|
|
|
NM_006031.6(PCNT):c.7952C>T (p.Ala2651Val)
|
|
|
NM_006031.6(PCNT):c.7953G>A (p.Ala2651=)
|
|
|
NM_006031.6(PCNT):c.7963C>T (p.Leu2655=)
|
|
|
NM_006031.6(PCNT):c.7965G>A (p.Leu2655=)
|
|
|
NM_006031.6(PCNT):c.7977G>T (p.Gln2659His)
|
rs2070426
|
|
NM_006031.6(PCNT):c.7978G>A (p.Gly2660Arg)
|
|
|
NM_006031.6(PCNT):c.7986G>A (p.Gly2662=)
|
|
|
NM_006031.6(PCNT):c.7992C>G (p.Ala2664=)
|
|
|
NM_006031.6(PCNT):c.7G>C (p.Val3Leu)
|
rs1175937762
|
|
NM_006031.6(PCNT):c.8004G>T (p.Gln2668His)
|
|
|
NM_006031.6(PCNT):c.8018dup (p.Leu2674fs)
|
|
|
NM_006031.6(PCNT):c.8020C>T (p.Leu2674=)
|
|
|
NM_006031.6(PCNT):c.8023C>G (p.Arg2675Gly)
|
|
|
NM_006031.6(PCNT):c.8023C>T (p.Arg2675Trp)
|
|
|
NM_006031.6(PCNT):c.8028C>T (p.His2676=)
|
rs886057191
|
|
NM_006031.6(PCNT):c.8058C>T (p.Ala2686=)
|
|
|
NM_006031.6(PCNT):c.8061G>A (p.Leu2687=)
|
|
|
NM_006031.6(PCNT):c.8064+12T>C
|
|
|
NM_006031.6(PCNT):c.8064+13C>G
|
|
|
NM_006031.6(PCNT):c.8064+14A>G
|
|
|
NM_006031.6(PCNT):c.8064+1G>A
|
|
|
NM_006031.6(PCNT):c.8064+245dup
|
rs560879641
|
|
NM_006031.6(PCNT):c.8064+84del
|
rs11285369
|
|
NM_006031.6(PCNT):c.8064+8G>A
|
|
|
NM_006031.6(PCNT):c.8065-13_8065-12del
|
|
|
NM_006031.6(PCNT):c.8065-15G>T
|
|
|
NM_006031.6(PCNT):c.8065-17A>G
|
|
|
NM_006031.6(PCNT):c.8065-19G>T
|
|
|
NM_006031.6(PCNT):c.8065-9G>C
|
|
|
NM_006031.6(PCNT):c.8071C>T (p.Arg2691Trp)
|
rs112087468
|
|
NM_006031.6(PCNT):c.8075C>T (p.Ala2692Val)
|
|
|
NM_006031.6(PCNT):c.8076G>A (p.Ala2692=)
|
|
|
NM_006031.6(PCNT):c.8082G>A (p.Leu2694=)
|
|
|
NM_006031.6(PCNT):c.8085G>A (p.Glu2695=)
|
|
|
NM_006031.6(PCNT):c.8089C>A (p.Gln2697Lys)
|
rs1211566024
|
|
NM_006031.6(PCNT):c.8090A>T (p.Gln2697Leu)
|
|
|
NM_006031.6(PCNT):c.8093G>A (p.Arg2698His)
|
|
|
NM_006031.6(PCNT):c.8107C>T (p.Arg2703Ter)
|
rs758298374
|
|
NM_006031.6(PCNT):c.8114G>T (p.Cys2705Phe)
|
|
|
NM_006031.6(PCNT):c.8121A>G (p.Ala2707=)
|
|
|
NM_006031.6(PCNT):c.8122C>T (p.Leu2708=)
|
|
|
NM_006031.6(PCNT):c.8128C>T (p.His2710Tyr)
|
rs987345147
|
|
NM_006031.6(PCNT):c.8131G>C (p.Glu2711Gln)
|
|
|
NM_006031.6(PCNT):c.8138C>T (p.Thr2713Met)
|
|
|
NM_006031.6(PCNT):c.8139G>A (p.Thr2713=)
|
|
|
NM_006031.6(PCNT):c.8146_8149dup (p.Asn2717fs)
|
|
|
NM_006031.6(PCNT):c.8160G>A (p.Lys2720=)
|
|
|
NM_006031.6(PCNT):c.8163G>A (p.Glu2721=)
|
|
|
NM_006031.6(PCNT):c.8168G>A (p.Arg2723His)
|
|
|
NM_006031.6(PCNT):c.8178C>T (p.His2726=)
|
|
|
NM_006031.6(PCNT):c.8182C>T (p.Arg2728Cys)
|
|
|
NM_006031.6(PCNT):c.8187C>T (p.Cys2729=)
|
|
|
NM_006031.6(PCNT):c.8193C>T (p.Ala2731=)
|
|
|
NM_006031.6(PCNT):c.8196G>A (p.Leu2732=)
|
|
|
NM_006031.6(PCNT):c.8201C>T (p.Ala2734Val)
|
|
|
NM_006031.6(PCNT):c.8214C>T (p.Ser2738=)
|
rs2147983087
|
|
NM_006031.6(PCNT):c.8223_8224del (p.Glu2742fs)
|
rs2087769756
|
|
NM_006031.6(PCNT):c.8226G>A (p.Glu2742=)
|
|
|
NM_006031.6(PCNT):c.8229C>T (p.Leu2743=)
|
|
|
NM_006031.6(PCNT):c.8231A>T (p.Gln2744Leu)
|
|
|
NM_006031.6(PCNT):c.8247T>G (p.Ala2749=)
|
|
|
NM_006031.6(PCNT):c.825G>A (p.Thr275=)
|
|
|
NM_006031.6(PCNT):c.8260A>G (p.Thr2754Ala)
|
|
|
NM_006031.6(PCNT):c.8262C>T (p.Thr2754=)
|
|
|
NM_006031.6(PCNT):c.8263C>T (p.Leu2755=)
|
|
|
NM_006031.6(PCNT):c.8269C>T (p.Leu2757=)
|
|
|
NM_006031.6(PCNT):c.8271G>C (p.Leu2757=)
|
|
|
NM_006031.6(PCNT):c.8277G>A (p.Glu2759=)
|
|
|
NM_006031.6(PCNT):c.8285G>A (p.Arg2762Gln)
|
|
|
NM_006031.6(PCNT):c.828A>T (p.Ala276=)
|
|
|
NM_006031.6(PCNT):c.8292G>A (p.Glu2764=)
|
|
|
NM_006031.6(PCNT):c.8301G>A (p.Leu2767=)
|
|
|
NM_006031.6(PCNT):c.8304C>G (p.Thr2768=)
|
|
|
NM_006031.6(PCNT):c.8304C>T (p.Thr2768=)
|
|
|
NM_006031.6(PCNT):c.8322G>A (p.Arg2774=)
|
|
|
NM_006031.6(PCNT):c.8328G>A (p.Gln2776=)
|
|
|
NM_006031.6(PCNT):c.8337C>T (p.Cys2779=)
|
|
|
NM_006031.6(PCNT):c.8339T>G (p.Val2780Gly)
|
|
|
NM_006031.6(PCNT):c.8350A>G (p.Thr2784Ala)
|
|
|
NM_006031.6(PCNT):c.8364C>T (p.His2788=)
|
|
|
NM_006031.6(PCNT):c.8368C>T (p.Leu2790=)
|
|
|
NM_006031.6(PCNT):c.8383A>G (p.Lys2795Glu)
|
|
|
NM_006031.6(PCNT):c.8386GAG[1] (p.Glu2797del)
|
rs760927489
|
|
NM_006031.6(PCNT):c.8391G>A (p.Glu2797=)
|
|
|
NM_006031.6(PCNT):c.8394G>A (p.Lys2798=)
|
|
|
NM_006031.6(PCNT):c.8398C>G (p.Arg2800Gly)
|
rs142608069
|
|
NM_006031.6(PCNT):c.8398C>T (p.Arg2800Trp)
|
rs142608069
|
|
NM_006031.6(PCNT):c.8403G>A (p.Val2801=)
|
|
|
NM_006031.6(PCNT):c.8415A>G (p.Gln2805=)
|
|
|
NM_006031.6(PCNT):c.8418G>C (p.Ala2806=)
|
|
|
NM_006031.6(PCNT):c.841C>T (p.Arg281Trp)
|
|
|
NM_006031.6(PCNT):c.8422C>A (p.Leu2808Ile)
|
|
|
NM_006031.6(PCNT):c.8434C>G (p.Gln2812Glu)
|
|
|
NM_006031.6(PCNT):c.8439G>A (p.Gln2813=)
|
|
|
NM_006031.6(PCNT):c.8445C>G (p.Ala2815=)
|
|
|
NM_006031.6(PCNT):c.8445C>T (p.Ala2815=)
|
|
|
NM_006031.6(PCNT):c.844dup (p.Glu282fs)
|
rs1601795448
|
|
NM_006031.6(PCNT):c.8451T>C (p.His2817=)
|
|
|
NM_006031.6(PCNT):c.8453C>A (p.Ser2818Tyr)
|
rs200878443
|
|
NM_006031.6(PCNT):c.8454_8455del (p.Gln2819fs)
|
|
|
NM_006031.6(PCNT):c.8461C>T (p.Gln2821Ter)
|
|
|
NM_006031.6(PCNT):c.8475G>A (p.Glu2825=)
|
|
|
NM_006031.6(PCNT):c.8479C>T (p.Gln2827Ter)
|
|
|
NM_006031.6(PCNT):c.8484dup (p.His2829fs)
|
|
|
NM_006031.6(PCNT):c.8487C>T (p.His2829=)
|
|
|
NM_006031.6(PCNT):c.8508G>A (p.Glu2836=)
|
|
|
NM_006031.6(PCNT):c.852C>T (p.Leu284=)
|
|
|
NM_006031.6(PCNT):c.8535G>A (p.Ser2845=)
|
|
|
NM_006031.6(PCNT):c.8542del (p.Glu2848fs)
|
|
|
NM_006031.6(PCNT):c.8544del (p.Ala2849fs)
|
rs1266152010
|
|
NM_006031.6(PCNT):c.8556C>T (p.Thr2852=)
|
|
|
NM_006031.6(PCNT):c.8563C>T (p.Arg2855Ter)
|
|
|
NM_006031.6(PCNT):c.8577C>T (p.Cys2859=)
|
|
|
NM_006031.6(PCNT):c.8578T>C (p.Ser2860Pro)
|
rs2147987435
|
|
NM_006031.6(PCNT):c.857G>A (p.Ser286Asn)
|
|
|
NM_006031.6(PCNT):c.8591A>G (p.Glu2864Gly)
|
|
|
NM_006031.6(PCNT):c.8591_8594del (p.Glu2864fs)
|
|
|
NM_006031.6(PCNT):c.8593_8594del (p.Arg2865fs)
|
|
|
NM_006031.6(PCNT):c.8598G>A (p.Glu2866=)
|
|
|
NM_006031.6(PCNT):c.859C>T (p.Arg287Trp)
|
|
|
NM_006031.6(PCNT):c.8603C>T (p.Pro2868Leu)
|
|
|
NM_006031.6(PCNT):c.8607G>A (p.Ala2869=)
|
|
|
NM_006031.6(PCNT):c.8616G>A (p.Gln2872=)
|
|
|
NM_006031.6(PCNT):c.861G>T (p.Arg287=)
|
|
|
NM_006031.6(PCNT):c.8622A>C (p.Glu2874Asp)
|
rs774517427
|
|
NM_006031.6(PCNT):c.8622A>G (p.Glu2874=)
|
rs774517427
|
|
NM_006031.6(PCNT):c.8631G>A (p.Gln2877=)
|
|
|
NM_006031.6(PCNT):c.8633C>G (p.Ser2878Ter)
|
|
|
NM_006031.6(PCNT):c.8637C>T (p.His2879=)
|
|
|
NM_006031.6(PCNT):c.8652G>A (p.Glu2884=)
|
|
|
NM_006031.6(PCNT):c.8653C>T (p.Gln2885Ter)
|
|
|
NM_006031.6(PCNT):c.8673G>A (p.Ala2891=)
|
|
|
NM_006031.6(PCNT):c.8676G>A (p.Arg2892=)
|
|
|
NM_006031.6(PCNT):c.8680_8689del (p.Ser2894fs)
|
|
|
NM_006031.6(PCNT):c.8682C>T (p.Ser2894=)
|
|
|
NM_006031.6(PCNT):c.8684C>T (p.Ala2895Val)
|
|
|
NM_006031.6(PCNT):c.8685G>A (p.Ala2895=)
|
|
|
NM_006031.6(PCNT):c.8695C>T (p.Gln2899Ter)
|
|
|
NM_006031.6(PCNT):c.8700C>T (p.Ser2900=)
|
|
|
NM_006031.6(PCNT):c.8706G>A (p.Ala2902=)
|
|
|
NM_006031.6(PCNT):c.8707G>C (p.Ala2903Pro)
|
rs35147998
|
|
NM_006031.6(PCNT):c.8709T>C (p.Ala2903=)
|
|
|
NM_006031.6(PCNT):c.8711C>T (p.Ala2904Val)
|
rs2087795393
|
|
NM_006031.6(PCNT):c.8720G>A (p.Trp2907Ter)
|
|
|
NM_006031.6(PCNT):c.8725A>T (p.Lys2909Ter)
|
|
|
NM_006031.6(PCNT):c.8731C>T (p.Gln2911Ter)
|
rs898659540
|
|
NM_006031.6(PCNT):c.8739C>T (p.Asp2913=)
|
|
|
NM_006031.6(PCNT):c.873G>A (p.Glu291=)
|
|
|
NM_006031.6(PCNT):c.8751+10G>A
|
|
|
NM_006031.6(PCNT):c.8751+10G>T
|
|
|
NM_006031.6(PCNT):c.8751+13T>C
|
|
|
NM_006031.6(PCNT):c.8751+17G>A
|
|
|
NM_006031.6(PCNT):c.8751+19C>T
|
|
|
NM_006031.6(PCNT):c.8751+20G>A
|
|
|
NM_006031.6(PCNT):c.8751+98C>T
|
rs7283044
|
|
NM_006031.6(PCNT):c.8752-12T>G
|
|
|
NM_006031.6(PCNT):c.8752-13C>A
|
|
|
NM_006031.6(PCNT):c.8752-14del
|
|
|
NM_006031.6(PCNT):c.8752-14dup
|
|
|
NM_006031.6(PCNT):c.8752-18T>G
|
|
|
NM_006031.6(PCNT):c.8752-20C>T
|
|
|
NM_006031.6(PCNT):c.8752-24_8752-8del
|
|
|
NM_006031.6(PCNT):c.8752-2A>C
|
rs1394951912
|
|
NM_006031.6(PCNT):c.8752-308G>A
|
rs60407402
|
|
NM_006031.6(PCNT):c.8752-4A>T
|
|
|
NM_006031.6(PCNT):c.8752-5A>T
|
|
|
NM_006031.6(PCNT):c.8752-6C>T
|
|
|
NM_006031.6(PCNT):c.8752-8A>C
|
|
|
NM_006031.6(PCNT):c.8752-8A>G
|
rs765074641
|
|
NM_006031.6(PCNT):c.8752del (p.Arg2918fs)
|
|
|
NM_006031.6(PCNT):c.8753G>A (p.Arg2918Gln)
|
|
|
NM_006031.6(PCNT):c.8757A>G (p.Glu2919=)
|
|
|
NM_006031.6(PCNT):c.8758T>C (p.Leu2920=)
|
|
|
NM_006031.6(PCNT):c.8761G>T (p.Glu2921Ter)
|
|
|
NM_006031.6(PCNT):c.8777G>C (p.Arg2926Pro)
|
|
|
NM_006031.6(PCNT):c.8786A>C (p.His2929Pro)
|
rs1556003819
|
|
NM_006031.6(PCNT):c.8787T>G (p.His2929Gln)
|
|
|
NM_006031.6(PCNT):c.8792T>C (p.Ile2931Thr)
|
|
|
NM_006031.6(PCNT):c.879C>T (p.Ala293=)
|
|
|
NM_006031.6(PCNT):c.8809A>T (p.Thr2937Ser)
|
|
|
NM_006031.6(PCNT):c.8812G>A (p.Val2938Met)
|
|
|
NM_006031.6(PCNT):c.8813T>C (p.Val2938Ala)
|
|
|
NM_006031.6(PCNT):c.8818_8819del (p.Asp2940fs)
|
rs1214290914
|
|
NM_006031.6(PCNT):c.8820C>A (p.Asp2940Glu)
|
rs797045882
|
|
NM_006031.6(PCNT):c.8829G>A (p.Ser2943=)
|
rs773483379
|
|
NM_006031.6(PCNT):c.8830_8832del (p.Lys2944del)
|
rs562568796
|
|
NM_006031.6(PCNT):c.8834A>G (p.Asp2945Gly)
|
|
|
NM_006031.6(PCNT):c.8846del (p.Gly2949fs)
|
|
|
NM_006031.6(PCNT):c.8849G>A (p.Ser2950Asn)
|
|
|
NM_006031.6(PCNT):c.8851C>T (p.Arg2951Cys)
|
|
|
NM_006031.6(PCNT):c.8852G>A (p.Arg2951His)
|
|
|
NM_006031.6(PCNT):c.8856C>T (p.Leu2952=)
|
|
|
NM_006031.6(PCNT):c.8872C>T (p.Arg2958Cys)
|
|
|
NM_006031.6(PCNT):c.8883C>A (p.Ala2961=)
|
|
|
NM_006031.6(PCNT):c.8889G>A (p.Ser2963=)
|
rs151325202
|
|
NM_006031.6(PCNT):c.8895G>C (p.Ala2965=)
|
|
|
NM_006031.6(PCNT):c.8896G>A (p.Asp2966Asn)
|
|
|
NM_006031.6(PCNT):c.8905C>A (p.Arg2969=)
|
|
|
NM_006031.6(PCNT):c.8905C>T (p.Arg2969Trp)
|
rs201154205
|
|
NM_006031.6(PCNT):c.8906G>A (p.Arg2969Gln)
|
|
|
NM_006031.6(PCNT):c.8911C>G (p.Gln2971Glu)
|
|
|
NM_006031.6(PCNT):c.8911C>T (p.Gln2971Ter)
|
|
|
NM_006031.6(PCNT):c.8925G>A (p.Leu2975=)
|
rs2148032783
|
|
NM_006031.6(PCNT):c.8931G>A (p.Ala2977=)
|
|
|
NM_006031.6(PCNT):c.8937G>A (p.Arg2979=)
|
|
|
NM_006031.6(PCNT):c.8939A>G (p.Gln2980Arg)
|
|
|
NM_006031.6(PCNT):c.8941C>T (p.Arg2981Trp)
|
|
|
NM_006031.6(PCNT):c.8943G>T (p.Arg2981=)
|
|
|
NM_006031.6(PCNT):c.8944C>T (p.Leu2982=)
|
|
|
NM_006031.6(PCNT):c.8946G>C (p.Leu2982=)
|
|
|
NM_006031.6(PCNT):c.8947C>G (p.Leu2983Val)
|
rs372356069
|
|
NM_006031.6(PCNT):c.8949C>G (p.Leu2983=)
|
|
|
NM_006031.6(PCNT):c.8949C>T (p.Leu2983=)
|
|
|
NM_006031.6(PCNT):c.8956G>A (p.Ala2986Thr)
|
rs201877661
|
|
NM_006031.6(PCNT):c.8958C>T (p.Ala2986=)
|
|
|
NM_006031.6(PCNT):c.8959del (p.Arg2987fs)
|
|
|
NM_006031.6(PCNT):c.8960G>A (p.Arg2987Gln)
|
|
|
NM_006031.6(PCNT):c.8961G>T (p.Arg2987=)
|
|
|
NM_006031.6(PCNT):c.8967C>T (p.Leu2989=)
|
|
|
NM_006031.6(PCNT):c.8979C>T (p.Thr2993=)
|
|
|
NM_006031.6(PCNT):c.8983C>T (p.Gln2995Ter)
|
|
|
NM_006031.6(PCNT):c.8988C>A (p.Ala2996=)
|
|
|
NM_006031.6(PCNT):c.8996+10C>G
|
rs748036380
|
|
NM_006031.6(PCNT):c.8996+10C>T
|
|
|
NM_006031.6(PCNT):c.8996+15C>T
|
|
|
NM_006031.6(PCNT):c.8996+2T>C
|
|
|
NM_006031.6(PCNT):c.8996+332_8996+333insGC
|
rs1556004505
|
|
NM_006031.6(PCNT):c.8996+5G>A
|
rs886057193
|
|
NM_006031.6(PCNT):c.8996+8C>G
|
|
|
NM_006031.6(PCNT):c.8996+96C>G
|
rs375170457
|
|
NM_006031.6(PCNT):c.8997-12T>C
|
|
|
NM_006031.6(PCNT):c.8997-17C>G
|
|
|
NM_006031.6(PCNT):c.8997-20G>A
|
|
|
NM_006031.6(PCNT):c.8997-220G>A
|
rs75710283
|
|
NM_006031.6(PCNT):c.8997-222G>A
|
rs35418111
|
|
NM_006031.6(PCNT):c.8997-6T>A
|
|
|
NM_006031.6(PCNT):c.8997G>A (p.Arg2999=)
|
rs1288558445
|
|
NM_006031.6(PCNT):c.9023A>G (p.Asn3008Ser)
|
|
|
NM_006031.6(PCNT):c.9024T>C (p.Asn3008=)
|
|
|
NM_006031.6(PCNT):c.9028A>G (p.Lys3010Glu)
|
rs797045883
|
|
NM_006031.6(PCNT):c.9041C>G (p.Ser3014Cys)
|
|
|
NM_006031.6(PCNT):c.9041C>T (p.Ser3014Phe)
|
|
|
NM_006031.6(PCNT):c.9043T>C (p.Leu3015=)
|
|
|
NM_006031.6(PCNT):c.9046C>T (p.Leu3016=)
|
|
|
NM_006031.6(PCNT):c.9051C>G (p.His3017Gln)
|
rs1556004960
|
|
NM_006031.6(PCNT):c.9054G>A (p.Thr3018=)
|
|
|
NM_006031.6(PCNT):c.9060G>A (p.Glu3020=)
|
|
|
NM_006031.6(PCNT):c.9064C>T (p.Leu3022=)
|
|
|
NM_006031.6(PCNT):c.9076T>C (p.Leu3026=)
|
|
|
NM_006031.6(PCNT):c.9078G>A (p.Leu3026=)
|
|
|
NM_006031.6(PCNT):c.9078del (p.Ser3027fs)
|
|
|
NM_006031.6(PCNT):c.9084G>A (p.Arg3028=)
|
rs896784926
|
|
NM_006031.6(PCNT):c.9087C>T (p.Pro3029=)
|
|
|
NM_006031.6(PCNT):c.9099+12G>T
|
|
|
NM_006031.6(PCNT):c.9099+15C>T
|
|
|
NM_006031.6(PCNT):c.9099+17C>T
|
|
|
NM_006031.6(PCNT):c.9099+19C>T
|
|
|
NM_006031.6(PCNT):c.9099+1G>A
|
|
|
NM_006031.6(PCNT):c.9099+249_9099+297del
|
rs879348635
|
|
NM_006031.6(PCNT):c.9099+7G>A
|
|
|
NM_006031.6(PCNT):c.9100-12C>T
|
|
|
NM_006031.6(PCNT):c.9100-13del
|
|
|
NM_006031.6(PCNT):c.9100-14T>G
|
|
|
NM_006031.6(PCNT):c.9100-17A>C
|
|
|
NM_006031.6(PCNT):c.9100-17_9100-14del
|
|
|
NM_006031.6(PCNT):c.9100-20T>C
|
|
|
NM_006031.6(PCNT):c.9100-9T>G
|
|
|
NM_006031.6(PCNT):c.9111A>G (p.Ala3037=)
|
|
|
NM_006031.6(PCNT):c.9121C>T (p.Gln3041Ter)
|
|
|
NM_006031.6(PCNT):c.9126C>T (p.Phe3042=)
|
|
|
NM_006031.6(PCNT):c.9133G>T (p.Val3045Leu)
|
rs925637422
|
|
NM_006031.6(PCNT):c.9135G>A (p.Val3045=)
|
|
|
NM_006031.6(PCNT):c.9145C>T (p.Leu3049=)
|
|
|
NM_006031.6(PCNT):c.9146T>C (p.Leu3049Pro)
|
rs794727667
|
|
NM_006031.6(PCNT):c.9165C>T (p.Leu3055=)
|
|
|
NM_006031.6(PCNT):c.9174G>C (p.Ala3058=)
|
|
|
NM_006031.6(PCNT):c.9179G>A (p.Ser3060Asn)
|
|
|
NM_006031.6(PCNT):c.9189C>T (p.Thr3063=)
|
|
|
NM_006031.6(PCNT):c.9195_9196insGA (p.Lys3066fs)
|
rs1569308924
|
|
NM_006031.6(PCNT):c.9198G>A (p.Lys3066=)
|
|
|
NM_006031.6(PCNT):c.9211A>G (p.Arg3071Gly)
|
rs886057194
|
|
NM_006031.6(PCNT):c.9214G>A (p.Ala3072Thr)
|
|
|
NM_006031.6(PCNT):c.9216C>T (p.Ala3072=)
|
|
|
NM_006031.6(PCNT):c.9237G>A (p.Leu3079=)
|
|
|
NM_006031.6(PCNT):c.924G>A (p.Glu308=)
|
rs146178359
|
|
NM_006031.6(PCNT):c.924G>C (p.Glu308Asp)
|
rs146178359
|
|
NM_006031.6(PCNT):c.9263G>A (p.Cys3088Tyr)
|
rs2148062115
|
|
NM_006031.6(PCNT):c.9264C>T (p.Cys3088=)
|
|
|
NM_006031.6(PCNT):c.9267C>T (p.Ser3089=)
|
|
|
NM_006031.6(PCNT):c.9270A>C (p.Pro3090=)
|
|
|
NM_006031.6(PCNT):c.9273+15T>C
|
|
|
NM_006031.6(PCNT):c.9273+15_9273+16dup
|
|
|
NM_006031.6(PCNT):c.9273+19C>A
|
|
|
NM_006031.6(PCNT):c.9273+19C>T
|
|
|
NM_006031.6(PCNT):c.9273+1G>A
|
|
|
NM_006031.6(PCNT):c.9274-20C>T
|
|
|
NM_006031.6(PCNT):c.9274-2A>G
|
|
|
NM_006031.6(PCNT):c.9274-4A>G
|
|
|
NM_006031.6(PCNT):c.9274-7C>G
|
|
|
NM_006031.6(PCNT):c.9278C>G (p.Ser3093Trp)
|
rs374857206
|
|
NM_006031.6(PCNT):c.9278C>T (p.Ser3093Leu)
|
rs374857206
|
|
NM_006031.6(PCNT):c.9280G>C (p.Glu3094Gln)
|
rs1404639711
|
|
NM_006031.6(PCNT):c.9285G>A (p.Arg3095=)
|
|
|
NM_006031.6(PCNT):c.9293G>T (p.Trp3098Leu)
|
rs797045884
|
|
NM_006031.6(PCNT):c.9303C>T (p.Asp3101=)
|
|
|
NM_006031.6(PCNT):c.9306A>G (p.Glu3102=)
|
|
|
NM_006031.6(PCNT):c.9309G>A (p.Thr3103=)
|
|
|
NM_006031.6(PCNT):c.930C>G (p.His310Gln)
|
|
|
NM_006031.6(PCNT):c.931G>A (p.Ala311Thr)
|
rs140196457
|
|
NM_006031.6(PCNT):c.9326T>G (p.Leu3109Arg)
|
|
|
NM_006031.6(PCNT):c.9330del (p.Arg3110fs)
|
|
|
NM_006031.6(PCNT):c.9336A>G (p.Pro3112=)
|
|
|
NM_006031.6(PCNT):c.9339C>T (p.Asp3113=)
|
|
|
NM_006031.6(PCNT):c.933A>C (p.Ala311=)
|
|
|
NM_006031.6(PCNT):c.9342C>G (p.Pro3114=)
|
|
|
NM_006031.6(PCNT):c.9342C>T (p.Pro3114=)
|
|
|
NM_006031.6(PCNT):c.9346C>T (p.Arg3116Trp)
|
|
|
NM_006031.6(PCNT):c.9347G>A (p.Arg3116Gln)
|
|
|
NM_006031.6(PCNT):c.934del (p.Arg312fs)
|
|
|
NM_006031.6(PCNT):c.9352C>A (p.Pro3118Thr)
|
rs1057520975
|
|
NM_006031.6(PCNT):c.9363C>T (p.Ala3121=)
|
|
|
NM_006031.6(PCNT):c.9366C>T (p.Ser3122=)
|
|
|
NM_006031.6(PCNT):c.9375A>G (p.Ala3125=)
|
|
|
NM_006031.6(PCNT):c.9388G>A (p.Val3130Ile)
|
|
|
NM_006031.6(PCNT):c.9390C>T (p.Val3130=)
|
|
|
NM_006031.6(PCNT):c.9393+16C>G
|
|
|
NM_006031.6(PCNT):c.9393+16C>T
|
|
|
NM_006031.6(PCNT):c.9393+1G>A
|
|
|
NM_006031.6(PCNT):c.9393+8C>G
|
|
|
NM_006031.6(PCNT):c.9393+8C>T
|
rs750108017
|
|
NM_006031.6(PCNT):c.9393+9G>T
|
|
|
NM_006031.6(PCNT):c.9394-10T>C
|
|
|
NM_006031.6(PCNT):c.9394-17T>C
|
|
|
NM_006031.6(PCNT):c.9394-3T>C
|
rs545618955
|
|
NM_006031.6(PCNT):c.9394-8T>C
|
|
|
NM_006031.6(PCNT):c.9399A>G (p.Glu3133=)
|
|
|
NM_006031.6(PCNT):c.939_940del (p.Lys314fs)
|
|
|
NM_006031.6(PCNT):c.9405G>A (p.Leu3135=)
|
|
|
NM_006031.6(PCNT):c.9408C>T (p.Tyr3136=)
|
|
|
NM_006031.6(PCNT):c.9409C>G (p.Leu3137Val)
|
rs1556007750
|
|
NM_006031.6(PCNT):c.9411G>A (p.Leu3137=)
|
|
|
NM_006031.6(PCNT):c.9417C>G (p.Tyr3139Ter)
|
rs2148093265
|
|
NM_006031.6(PCNT):c.942G>A (p.Lys314=)
|
|
|
NM_006031.6(PCNT):c.9447_9451del (p.Ile3150fs)
|
|
|
NM_006031.6(PCNT):c.9450T>A (p.Ile3150=)
|
|
|
NM_006031.6(PCNT):c.9457AAG[1] (p.Lys3154del)
|
rs2148093442
|
|
NM_006031.6(PCNT):c.9469T>C (p.Leu3157=)
|
|
|
NM_006031.6(PCNT):c.9470T>G (p.Leu3157Trp)
|
|
|
NM_006031.6(PCNT):c.9475T>C (p.Leu3159=)
|
|
|
NM_006031.6(PCNT):c.9477G>A (p.Leu3159=)
|
|
|
NM_006031.6(PCNT):c.9489C>T (p.Phe3163=)
|
|
|
NM_006031.6(PCNT):c.948G>A (p.Glu316=)
|
|
|
NM_006031.6(PCNT):c.948G>C (p.Glu316Asp)
|
rs369860393
|
|
NM_006031.6(PCNT):c.9510A>G (p.Thr3170=)
|
|
|
NM_006031.6(PCNT):c.9510_9511del (p.Ser3172fs)
|
|
|
NM_006031.6(PCNT):c.9517A>G (p.Met3173Val)
|
|
|
NM_006031.6(PCNT):c.9535dup (p.Val3179fs)
|
rs747058622
|
|
NM_006031.6(PCNT):c.954G>T (p.Val318=)
|
|
|
NM_006031.6(PCNT):c.9554A>G (p.Glu3185Gly)
|
|
|
NM_006031.6(PCNT):c.9556C>T (p.Arg3186Trp)
|
|
|
NM_006031.6(PCNT):c.9564C>A (p.Ile3188=)
|
|
|
NM_006031.6(PCNT):c.9564C>T (p.Ile3188=)
|
rs201798996
|
|
NM_006031.6(PCNT):c.9569C>A (p.Ser3190Tyr)
|
|
|
NM_006031.6(PCNT):c.9590G>A (p.Arg3197His)
|
|
|
NM_006031.6(PCNT):c.9590G>T (p.Arg3197Leu)
|
|
|
NM_006031.6(PCNT):c.9598G>A (p.Val3200Ile)
|
|
|
NM_006031.6(PCNT):c.9609C>T (p.Val3203=)
|
|
|
NM_006031.6(PCNT):c.9611T>C (p.Ile3204Thr)
|
|
|
NM_006031.6(PCNT):c.9612T>C (p.Ile3204=)
|
|
|
NM_006031.6(PCNT):c.9623+10A>G
|
|
|
NM_006031.6(PCNT):c.9623+14C>T
|
|
|
NM_006031.6(PCNT):c.9623+15G>A
|
|
|
NM_006031.6(PCNT):c.9623+9C>G
|
|
|
NM_006031.6(PCNT):c.9623+9C>T
|
|
|
NM_006031.6(PCNT):c.9624-10T>C
|
|
|
NM_006031.6(PCNT):c.9624-17_9624-13del
|
|
|
NM_006031.6(PCNT):c.9624-2A>G
|
|
|
NM_006031.6(PCNT):c.9624-4G>C
|
|
|
NM_006031.6(PCNT):c.9624-5dup
|
|
|
NM_006031.6(PCNT):c.9624-6_9624-5del
|
|
|
NM_006031.6(PCNT):c.9624A>C (p.Arg3208Ser)
|
|
|
NM_006031.6(PCNT):c.9627A>G (p.Leu3209=)
|
|
|
NM_006031.6(PCNT):c.9632T>G (p.Phe3211Cys)
|
rs559822257
|
|
NM_006031.6(PCNT):c.9654A>G (p.Glu3218=)
|
|
|
NM_006031.6(PCNT):c.9661del (p.Arg3221fs)
|
|
|
NM_006031.6(PCNT):c.9673C>G (p.Leu3225Val)
|
|
|
NM_006031.6(PCNT):c.9693T>C (p.Pro3231=)
|
|
|
NM_006031.6(PCNT):c.969G>A (p.Gln323=)
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NM_006031.6(PCNT):c.9700+11A>T
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NM_006031.6(PCNT):c.9700+12G>A
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NM_006031.6(PCNT):c.9700+13C>T
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NM_006031.6(PCNT):c.9700+14T>A
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NM_006031.6(PCNT):c.9700+15G>A
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NM_006031.6(PCNT):c.9700+18G>C
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NM_006031.6(PCNT):c.9700+1G>A
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rs2148115298
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NM_006031.6(PCNT):c.9700+2T>C
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NM_006031.6(PCNT):c.9700+8T>A
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NM_006031.6(PCNT):c.9701-10T>C
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NM_006031.6(PCNT):c.9701-10T>G
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NM_006031.6(PCNT):c.9701-19T>G
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NM_006031.6(PCNT):c.9701-1G>A
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NM_006031.6(PCNT):c.9701-201C>G
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rs2839263
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NM_006031.6(PCNT):c.9701-2A>G
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NM_006031.6(PCNT):c.9701-2A>T
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NM_006031.6(PCNT):c.9701-9C>T
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NM_006031.6(PCNT):c.9710C>A (p.Ala3237Glu)
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NM_006031.6(PCNT):c.9710C>T (p.Ala3237Val)
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NM_006031.6(PCNT):c.9712C>T (p.Arg3238Ter)
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NM_006031.6(PCNT):c.9714A>G (p.Arg3238=)
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NM_006031.6(PCNT):c.9715C>T (p.Gln3239Ter)
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rs1474939581
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NM_006031.6(PCNT):c.9720G>T (p.Pro3240=)
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NM_006031.6(PCNT):c.9726T>C (p.Ser3242=)
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NM_006031.6(PCNT):c.972A>G (p.Glu324=)
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NM_006031.6(PCNT):c.9738C>G (p.Thr3246=)
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NM_006031.6(PCNT):c.9740G>A (p.Arg3247Lys)
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rs587784323
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NM_006031.6(PCNT):c.9747C>T (p.Ser3249=)
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NM_006031.6(PCNT):c.9750C>A (p.Pro3250=)
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NM_006031.6(PCNT):c.9751C>T (p.Pro3251Ser)
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rs201526605
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NM_006031.6(PCNT):c.9752C>G (p.Pro3251Arg)
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NM_006031.6(PCNT):c.9752C>T (p.Pro3251Leu)
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NM_006031.6(PCNT):c.9752dup (p.Thr3252fs)
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NM_006031.6(PCNT):c.9753A>G (p.Pro3251=)
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NM_006031.6(PCNT):c.9756C>G (p.Thr3252=)
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NM_006031.6(PCNT):c.9757C>A (p.Arg3253=)
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NM_006031.6(PCNT):c.9757C>T (p.Arg3253Trp)
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NM_006031.6(PCNT):c.9758G>A (p.Arg3253Gln)
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NM_006031.6(PCNT):c.9758G>C (p.Arg3253Pro)
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rs559836256
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NM_006031.6(PCNT):c.9759G>T (p.Arg3253=)
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NM_006031.6(PCNT):c.976+12C>T
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NM_006031.6(PCNT):c.976+17C>T
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NM_006031.6(PCNT):c.976+18G>A
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NM_006031.6(PCNT):c.976+19G>A
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NM_006031.6(PCNT):c.9768C>T (p.Pro3256=)
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NM_006031.6(PCNT):c.977-4G>C
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NM_006031.6(PCNT):c.977-4G>T
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rs2146561875
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NM_006031.6(PCNT):c.977-6T>C
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NM_006031.6(PCNT):c.9774C>T (p.Gly3258=)
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NM_006031.6(PCNT):c.9777C>T (p.His3259=)
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NM_006031.6(PCNT):c.9786C>T (p.Asp3262=)
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NM_006031.6(PCNT):c.9789T>G (p.Pro3263=)
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NM_006031.6(PCNT):c.9799C>T (p.Arg3267Cys)
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NM_006031.6(PCNT):c.9801C>T (p.Arg3267=)
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NM_006031.6(PCNT):c.9820T>A (p.Ser3274Thr)
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NM_006031.6(PCNT):c.9820T>G (p.Ser3274Ala)
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rs144044246
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NM_006031.6(PCNT):c.9820del (p.Ser3274fs)
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NM_006031.6(PCNT):c.9823C>T (p.Pro3275Ser)
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NM_006031.6(PCNT):c.9838A>G (p.Arg3280Gly)
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rs2148130857
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NM_006031.6(PCNT):c.9839+14C>T
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NM_006031.6(PCNT):c.9839+15T>C
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NM_006031.6(PCNT):c.9839+17C>T
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NM_006031.6(PCNT):c.9839+18A>G
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NM_006031.6(PCNT):c.9839+6T>C
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NM_006031.6(PCNT):c.9839+6dup
|
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NM_006031.6(PCNT):c.9839+7G>T
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NM_006031.6(PCNT):c.9839+8T>C
|
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NM_006031.6(PCNT):c.9840-14_9840-13del
|
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NM_006031.6(PCNT):c.9840-15G>C
|
rs564095021
|
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NM_006031.6(PCNT):c.9840-18G>A
|
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NM_006031.6(PCNT):c.9840-30del
|
rs3058084
|
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NM_006031.6(PCNT):c.9840-31_9840-30del
|
rs3058084
|
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NM_006031.6(PCNT):c.9840-32_9840-30del
|
rs3058084
|
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NM_006031.6(PCNT):c.9840-8G>T
|
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NM_006031.6(PCNT):c.9840-9T>G
|
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NM_006031.6(PCNT):c.9849A>G (p.Pro3283=)
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NM_006031.6(PCNT):c.984G>A (p.Leu328=)
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NM_006031.6(PCNT):c.9860C>G (p.Ser3287Ter)
|
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NM_006031.6(PCNT):c.9864A>G (p.Arg3288=)
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|
NM_006031.6(PCNT):c.9865T>C (p.Leu3289=)
|
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|
NM_006031.6(PCNT):c.9870_9873del (p.Glu3290fs)
|
|
|
NM_006031.6(PCNT):c.9885_9886insGGCTGCCCAGTCTGGAAAGTGAGGAGCGTCTCCGCCCGGCCGCCATCCCATCTAGGAAGTGAGGAGCGCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGATCCCTGACTGCT (p.Ala3295_Ser3296insGlyCysProValTrpLysValArgSerValSerAlaArgProProSerHisLeuGlySerGluGluArgXaaXaaXaaXaaLysLysLysLysLysLysLysArgSerLeuThrAla)
|
|
|
NM_006031.6(PCNT):c.9886T>C (p.Ser3296Pro)
|
rs752708321
|
|
NM_006031.6(PCNT):c.9888T>C (p.Ser3296=)
|
|
|
NM_006031.6(PCNT):c.9905C>T (p.Ser3302Phe)
|
rs2148140916
|
|
NM_006031.6(PCNT):c.9912A>G (p.Thr3304=)
|
|
|
NM_006031.6(PCNT):c.9922C>T (p.His3308Tyr)
|
|
|
NM_006031.6(PCNT):c.993G>A (p.Lys331=)
|
|
|
NM_006031.6(PCNT):c.9940C>T (p.Gln3314Ter)
|
|
|
NM_006031.6(PCNT):c.9942G>A (p.Gln3314=)
|
|
|
NM_006031.6(PCNT):c.994T>C (p.Leu332=)
|
|
|
NM_006031.6(PCNT):c.9954A>G (p.Gly3318=)
|
|
|
NM_006031.6(PCNT):c.9957G>C (p.Gly3319=)
|
|
|
NM_006031.6(PCNT):c.9959TAC[1] (p.Leu3321del)
|
rs2148141560
|
|
NM_006031.6(PCNT):c.9961C>T (p.Leu3321=)
|
|
|
NM_006031.6(PCNT):c.9963A>G (p.Leu3321=)
|
|
|
NM_006031.6(PCNT):c.9967+13C>G
|
|
|
NM_006031.6(PCNT):c.9967+15C>T
|
|
|
NM_006031.6(PCNT):c.9967+16G>A
|
|
|
NM_006031.6(PCNT):c.9967+18C>A
|
|
|
NM_006031.6(PCNT):c.9967+198C>A
|
rs77487457
|
|
NM_006031.6(PCNT):c.9967+19G>A
|
|
|
NM_006031.6(PCNT):c.9968-18A>C
|
|
|
NM_006031.6(PCNT):c.9968-21_9968-19del
|
|
|
NM_006031.6(PCNT):c.9968-223dup
|
rs147675714
|
|
NM_006031.6(PCNT):c.9968-5T>C
|
|
|
NM_006031.6(PCNT):c.9968-6A>G
|
|
|
NM_006031.6(PCNT):c.9972T>C (p.Ser3324=)
|
|
|
NM_006031.6(PCNT):c.9978A>G (p.Ser3326=)
|
|
|
NM_006031.6(PCNT):c.9978A>T (p.Ser3326=)
|
rs749839605
|
|
NM_006031.6(PCNT):c.9980del (p.Lys3327fs)
|
|
|
NM_006031.6(PCNT):c.9987C>T (p.Ser3329=)
|
|
|
NM_006031.6(PCNT):c.9993C>T (p.His3331=)
|
|
|
NM_006031.6(PCNT):c.9994C>G (p.Pro3332Ala)
|
|
|
NM_006031.6(PCNT):c.9996G>A (p.Pro3332=)
|
|
|
NM_006031.6(PCNT):c.9998T>A (p.Met3333Lys)
|
|
|
NM_006031.6:c.(6921+1_6922-1)_(7024+1_7025-1)del
|
|
|
PCNT, 486-BP DEL, NT84
|
|
|