ClinVar Miner

List of variants in gene PCNT

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Gene type:
ClinVar version:
Total variants: 3230
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HGVS dbSNP gnomAD frequency
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
NM_006031.6(PCNT):c.1762-15G>C
NM_006031.6(PCNT):c.1762-20C>T
NM_006031.6(PCNT):c.1762-6C>G
NM_006031.6(PCNT):c.1762-6C>T
NM_006031.6(PCNT):c.1779C>T (p.Phe593=)
NM_006031.6(PCNT):c.177G>A (p.Glu59=)
NM_006031.6(PCNT):c.1782G>T (p.Gln594His)
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=)
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=)
NM_006031.6(PCNT):c.1851G>A (p.Glu617=)
NM_006031.6(PCNT):c.1854G>A (p.Gly618=)
NM_006031.6(PCNT):c.1875C>T (p.Cys625=)
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=)
NM_006031.6(PCNT):c.189C>G (p.Leu63=)
NM_006031.6(PCNT):c.189C>T (p.Leu63=)
NM_006031.6(PCNT):c.1900G>A (p.Glu634Lys)
NM_006031.6(PCNT):c.1907G>A (p.Arg636His)
NM_006031.6(PCNT):c.1907G>T (p.Arg636Leu)
NM_006031.6(PCNT):c.1920T>C (p.Ser640=)
NM_006031.6(PCNT):c.1936+13C>G
NM_006031.6(PCNT):c.1936+13C>T
NM_006031.6(PCNT):c.1936+14G>A
NM_006031.6(PCNT):c.1936+14G>C
NM_006031.6(PCNT):c.1936+18C>T
NM_006031.6(PCNT):c.1936+19G>A
NM_006031.6(PCNT):c.1937-14C>T
NM_006031.6(PCNT):c.1937-16C>A
NM_006031.6(PCNT):c.1937-17G>C
NM_006031.6(PCNT):c.1937-1G>C
NM_006031.6(PCNT):c.1937-7C>G
NM_006031.6(PCNT):c.1937-7C>T
NM_006031.6(PCNT):c.1938G>C (p.Glu646Asp)
NM_006031.6(PCNT):c.1942C>T (p.Pro648Ser)
NM_006031.6(PCNT):c.1948G>A (p.Val650Met)
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=)
NM_006031.6(PCNT):c.2005A>C (p.Arg669=)
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=)
NM_006031.6(PCNT):c.2056A>G (p.Thr686Ala)
NM_006031.6(PCNT):c.2058T>G (p.Thr686=)
NM_006031.6(PCNT):c.2062C>T (p.Leu688Phe)
NM_006031.6(PCNT):c.2064C>A (p.Leu688=)
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)
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=)
NM_006031.6(PCNT):c.6087G>A (p.Gln2029=)
NM_006031.6(PCNT):c.6095C>T (p.Ser2032Leu)
NM_006031.6(PCNT):c.6103C>T (p.Leu2035Phe)
NM_006031.6(PCNT):c.6111G>A (p.Val2037=) rs1010254011
NM_006031.6(PCNT):c.6125G>T (p.Arg2042Leu)
NM_006031.6(PCNT):c.6126C>T (p.Arg2042=)
NM_006031.6(PCNT):c.6135G>A (p.Leu2045=)
NM_006031.6(PCNT):c.6142G>A (p.Gly2048Ser)
NM_006031.6(PCNT):c.6145_6150+54del
NM_006031.6(PCNT):c.6147C>T (p.Gly2049=) rs2086841170
NM_006031.6(PCNT):c.6150+109C>T rs61544820
NM_006031.6(PCNT):c.6150+10_6150+11insCGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAG
NM_006031.6(PCNT):c.6150+112G>A rs10222118
NM_006031.6(PCNT):c.6150+11G>A
NM_006031.6(PCNT):c.6150+11G>C rs10222116
NM_006031.6(PCNT):c.6150+11G>T
NM_006031.6(PCNT):c.6150+11_6150+130del
NM_006031.6(PCNT):c.6150+11_6150+190del
NM_006031.6(PCNT):c.6150+11_6150+70del rs1569271924
NM_006031.6(PCNT):c.6150+15_6150+135del
NM_006031.6(PCNT):c.6150+15del rs149690097
NM_006031.6(PCNT):c.6150+16A>G rs1351773151
NM_006031.6(PCNT):c.6150+17A>G
NM_006031.6(PCNT):c.6150+20C>T
NM_006031.6(PCNT):c.6150+21_6150+140del
NM_006031.6(PCNT):c.6150+21_6150+80del
NM_006031.6(PCNT):c.6150+309A>G rs4577376
NM_006031.6(PCNT):c.6150+32_6150+33insTGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACAAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCGCGAGGTCCCCC
NM_006031.6(PCNT):c.6150+34G>C rs547655993
NM_006031.6(PCNT):c.6150+44_6150+45insCACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACAAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCGCGAGGTCCCCCCGGGAGAGGCTG
NM_006031.6(PCNT):c.6150+48_6150+49insTGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACAAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACAAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCGCGAGGTCCCCCCGGGAGAGGCTGGACA
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
NM_006031.6(PCNT):c.6150+82_6150+83insAAGGCCCACCCGGGAGAGGCTGGACACGTGGCAGCAAGGTGTGGGGAGCGGGGAAGGCGCGAGGTCCCCCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCAC
NM_006031.6(PCNT):c.6150+94G>C rs113205962
NM_006031.6(PCNT):c.6150+9A>C
NM_006031.6(PCNT):c.6150+9A>T
NM_006031.6(PCNT):c.6150+9del
NM_006031.6(PCNT):c.6151-10T>C
NM_006031.6(PCNT):c.6151-14T>C
NM_006031.6(PCNT):c.6151-15C>G
NM_006031.6(PCNT):c.6151-15C>T
NM_006031.6(PCNT):c.6151-18G>A
NM_006031.6(PCNT):c.6151-4G>A
NM_006031.6(PCNT):c.6151-4G>T
NM_006031.6(PCNT):c.6151-6C>G
NM_006031.6(PCNT):c.6151-7C>T
NM_006031.6(PCNT):c.615A>G (p.Ala205=)
NM_006031.6(PCNT):c.6162A>G (p.Lys2054=)
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=)
NM_006031.6(PCNT):c.6186G>C (p.Pro2062=)
NM_006031.6(PCNT):c.6193G>A (p.Asp2065Asn)
NM_006031.6(PCNT):c.6198C>T (p.Leu2066=)
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=)
NM_006031.6(PCNT):c.6235C>T (p.Arg2079Cys)
NM_006031.6(PCNT):c.6240G>A (p.Leu2080=)
NM_006031.6(PCNT):c.6243G>C (p.Leu2081=)
NM_006031.6(PCNT):c.6250A>G (p.Met2084Val)
NM_006031.6(PCNT):c.6258C>G (p.Phe2086Leu)
NM_006031.6(PCNT):c.6258C>T (p.Phe2086=)
NM_006031.6(PCNT):c.6262A>C (p.Asn2088His)
NM_006031.6(PCNT):c.6267G>A (p.Val2089=)
NM_006031.6(PCNT):c.6269A>G (p.Asp2090Gly)
NM_006031.6(PCNT):c.6270T>C (p.Asp2090=) rs749943104
NM_006031.6(PCNT):c.6273T>C (p.Ala2091=)
NM_006031.6(PCNT):c.6278A>G (p.Asp2093Gly)
NM_006031.6(PCNT):c.6279C>T (p.Asp2093=)
NM_006031.6(PCNT):c.6291G>A (p.Leu2097=)
NM_006031.6(PCNT):c.6306A>G (p.Ser2102=)
NM_006031.6(PCNT):c.6309A>G (p.Ala2103=)
NM_006031.6(PCNT):c.6315G>C (p.Leu2105=)
NM_006031.6(PCNT):c.6316_6325del (p.Leu2106fs)
NM_006031.6(PCNT):c.6324C>T (p.Ser2108=)
NM_006031.6(PCNT):c.6341C>G (p.Ser2114Cys)
NM_006031.6(PCNT):c.6342C>A (p.Ser2114=)
NM_006031.6(PCNT):c.6344G>C (p.Cys2115Ser)
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
NM_006031.6(PCNT):c.6369A>G (p.Ser2123=)
NM_006031.6(PCNT):c.636A>G (p.Thr212=)
NM_006031.6(PCNT):c.6372C>T (p.Pro2124=)
NM_006031.6(PCNT):c.6379G>A (p.Asp2127Asn)
NM_006031.6(PCNT):c.6381C>T (p.Asp2127=)
NM_006031.6(PCNT):c.6383_6384insGTGTGATGCCAATACAGCCACGGGGGGTGTAACTGATGTTATCAAAAATCAGGCCATAGACGC (p.Thr2154_Thr2155insAlaThrGlyGlyValThrAspValIleLysAsnGlnAlaIleAspAlaCysAspAlaAsnThr)
NM_006031.6(PCNT):c.639+16T>C
NM_006031.6(PCNT):c.639+20T>A
NM_006031.6(PCNT):c.639+8T>C
NM_006031.6(PCNT):c.639+9T>C
NM_006031.6(PCNT):c.640-12T>A
NM_006031.6(PCNT):c.640-1G>A
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=)
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=)
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=)
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)
NM_006031.6(PCNT):c.7821A>T (p.Arg2607=)
NM_006031.6(PCNT):c.783G>A (p.Gln261=)
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=)
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
NM_006031.6(PCNT):c.7913+7C>T
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
NM_006031.6(PCNT):c.7914-18T>G
NM_006031.6(PCNT):c.7914-4G>C
NM_006031.6(PCNT):c.7914-8C>T
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=)
NM_006031.6(PCNT):c.9700+11A>T
NM_006031.6(PCNT):c.9700+12G>A
NM_006031.6(PCNT):c.9700+13C>T
NM_006031.6(PCNT):c.9700+14T>A
NM_006031.6(PCNT):c.9700+15G>A
NM_006031.6(PCNT):c.9700+18G>C
NM_006031.6(PCNT):c.9700+1G>A rs2148115298
NM_006031.6(PCNT):c.9700+2T>C
NM_006031.6(PCNT):c.9700+8T>A
NM_006031.6(PCNT):c.9701-10T>C
NM_006031.6(PCNT):c.9701-10T>G
NM_006031.6(PCNT):c.9701-19T>G
NM_006031.6(PCNT):c.9701-1G>A
NM_006031.6(PCNT):c.9701-201C>G rs2839263
NM_006031.6(PCNT):c.9701-2A>G
NM_006031.6(PCNT):c.9701-2A>T
NM_006031.6(PCNT):c.9701-9C>T
NM_006031.6(PCNT):c.9710C>A (p.Ala3237Glu)
NM_006031.6(PCNT):c.9710C>T (p.Ala3237Val)
NM_006031.6(PCNT):c.9712C>T (p.Arg3238Ter)
NM_006031.6(PCNT):c.9714A>G (p.Arg3238=)
NM_006031.6(PCNT):c.9715C>T (p.Gln3239Ter) rs1474939581
NM_006031.6(PCNT):c.9720G>T (p.Pro3240=)
NM_006031.6(PCNT):c.9726T>C (p.Ser3242=)
NM_006031.6(PCNT):c.972A>G (p.Glu324=)
NM_006031.6(PCNT):c.9738C>G (p.Thr3246=)
NM_006031.6(PCNT):c.9740G>A (p.Arg3247Lys) rs587784323
NM_006031.6(PCNT):c.9747C>T (p.Ser3249=)
NM_006031.6(PCNT):c.9750C>A (p.Pro3250=)
NM_006031.6(PCNT):c.9751C>T (p.Pro3251Ser) rs201526605
NM_006031.6(PCNT):c.9752C>G (p.Pro3251Arg)
NM_006031.6(PCNT):c.9752C>T (p.Pro3251Leu)
NM_006031.6(PCNT):c.9752dup (p.Thr3252fs)
NM_006031.6(PCNT):c.9753A>G (p.Pro3251=)
NM_006031.6(PCNT):c.9756C>G (p.Thr3252=)
NM_006031.6(PCNT):c.9757C>A (p.Arg3253=)
NM_006031.6(PCNT):c.9757C>T (p.Arg3253Trp)
NM_006031.6(PCNT):c.9758G>A (p.Arg3253Gln)
NM_006031.6(PCNT):c.9758G>C (p.Arg3253Pro) rs559836256
NM_006031.6(PCNT):c.9759G>T (p.Arg3253=)
NM_006031.6(PCNT):c.976+12C>T
NM_006031.6(PCNT):c.976+17C>T
NM_006031.6(PCNT):c.976+18G>A
NM_006031.6(PCNT):c.976+19G>A
NM_006031.6(PCNT):c.9768C>T (p.Pro3256=)
NM_006031.6(PCNT):c.977-4G>C
NM_006031.6(PCNT):c.977-4G>T rs2146561875
NM_006031.6(PCNT):c.977-6T>C
NM_006031.6(PCNT):c.9774C>T (p.Gly3258=)
NM_006031.6(PCNT):c.9777C>T (p.His3259=)
NM_006031.6(PCNT):c.9786C>T (p.Asp3262=)
NM_006031.6(PCNT):c.9789T>G (p.Pro3263=)
NM_006031.6(PCNT):c.9799C>T (p.Arg3267Cys)
NM_006031.6(PCNT):c.9801C>T (p.Arg3267=)
NM_006031.6(PCNT):c.9820T>A (p.Ser3274Thr)
NM_006031.6(PCNT):c.9820T>G (p.Ser3274Ala) rs144044246
NM_006031.6(PCNT):c.9820del (p.Ser3274fs)
NM_006031.6(PCNT):c.9823C>T (p.Pro3275Ser)
NM_006031.6(PCNT):c.9838A>G (p.Arg3280Gly) rs2148130857
NM_006031.6(PCNT):c.9839+14C>T
NM_006031.6(PCNT):c.9839+15T>C
NM_006031.6(PCNT):c.9839+17C>T
NM_006031.6(PCNT):c.9839+18A>G
NM_006031.6(PCNT):c.9839+6T>C
NM_006031.6(PCNT):c.9839+6dup
NM_006031.6(PCNT):c.9839+7G>T
NM_006031.6(PCNT):c.9839+8T>C
NM_006031.6(PCNT):c.9840-14_9840-13del
NM_006031.6(PCNT):c.9840-15G>C rs564095021
NM_006031.6(PCNT):c.9840-18G>A
NM_006031.6(PCNT):c.9840-30del rs3058084
NM_006031.6(PCNT):c.9840-31_9840-30del rs3058084
NM_006031.6(PCNT):c.9840-32_9840-30del rs3058084
NM_006031.6(PCNT):c.9840-8G>T
NM_006031.6(PCNT):c.9840-9T>G
NM_006031.6(PCNT):c.9849A>G (p.Pro3283=)
NM_006031.6(PCNT):c.984G>A (p.Leu328=)
NM_006031.6(PCNT):c.9860C>G (p.Ser3287Ter)
NM_006031.6(PCNT):c.9864A>G (p.Arg3288=)
NM_006031.6(PCNT):c.9865T>C (p.Leu3289=)
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

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