ClinVar Miner

List of variants in gene PCNT reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 468
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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.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.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.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.4142C>T (p.Ala1381Val) rs114383833 0.00221
NM_006031.6(PCNT):c.9291T>C (p.Ala3097=) rs150554265 0.00209
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.9247C>T (p.His3083Tyr) rs143289533 0.00179
NM_006031.6(PCNT):c.1519C>G (p.Arg507Gly) rs138036524 0.00165
NM_006031.6(PCNT):c.6080A>G (p.Gln2027Arg) rs147189224 0.00157
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.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.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.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.1761+14C>T rs368329088 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.5815C>T (p.Arg1939Trp) rs575313866 0.00060
NM_006031.6(PCNT):c.6579G>A (p.Pro2193=) rs150756913 0.00051
NM_006031.6(PCNT):c.2833C>T (p.Arg945Cys) rs147358856 0.00043
NM_006031.6(PCNT):c.6072C>T (p.Thr2024=) rs143671774 0.00043
NM_006031.6(PCNT):c.644G>A (p.Cys215Tyr) rs138962786 0.00041
NM_006031.6(PCNT):c.6093G>A (p.Gln2031=) rs138543824 0.00040
NM_006031.6(PCNT):c.5736C>T (p.Ala1912=) rs766460016 0.00034
NM_006031.6(PCNT):c.506G>A (p.Arg169His) rs61735823 0.00032
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.9967+18C>T rs369414311 0.00029
NM_006031.6(PCNT):c.688C>T (p.Arg230Cys) rs143560718 0.00028
NM_006031.6(PCNT):c.6645G>A (p.Pro2215=) rs144342729 0.00027
NM_006031.6(PCNT):c.3853C>T (p.Arg1285Cys) rs150564059 0.00026
NM_006031.6(PCNT):c.5115+11A>G rs371474470 0.00024
NM_006031.6(PCNT):c.8172C>T (p.Ile2724=) rs146717642 0.00022
NM_006031.6(PCNT):c.5940C>T (p.Gly1980=) rs150436577 0.00021
NM_006031.6(PCNT):c.2714A>G (p.Gln905Arg) rs112231246 0.00018
NM_006031.6(PCNT):c.2260G>T (p.Val754Phe) rs375312732 0.00017
NM_006031.6(PCNT):c.6800C>T (p.Ser2267Leu) rs548287016 0.00016
NM_006031.6(PCNT):c.7179+18G>A rs370492724 0.00016
NM_006031.6(PCNT):c.8528T>G (p.Leu2843Arg) rs569737144 0.00016
NM_006031.6(PCNT):c.934C>T (p.Arg312Trp) rs572076735 0.00015
NM_006031.6(PCNT):c.2458C>T (p.Arg820Cys) rs369586175 0.00014
NM_006031.6(PCNT):c.5603C>T (p.Ala1868Val) rs369038814 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.5826G>A (p.Arg1942=) rs536281306 0.00012
NM_006031.6(PCNT):c.7413G>A (p.Glu2471=) rs191561981 0.00012
NM_006031.6(PCNT):c.3423C>T (p.Leu1141=) rs113763153 0.00011
NM_006031.6(PCNT):c.4223G>A (p.Arg1408Gln) rs199661615 0.00011
NM_006031.6(PCNT):c.5582C>T (p.Ala1861Val) rs373238616 0.00011
NM_006031.6(PCNT):c.3749G>A (p.Arg1250Gln) rs202005598 0.00010
NM_006031.6(PCNT):c.6635G>A (p.Arg2212Gln) rs201503338 0.00010
NM_006031.6(PCNT):c.4442T>C (p.Met1481Thr) rs376604964 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.9155A>G (p.Asn3052Ser) rs779546932 0.00009
NM_006031.6(PCNT):c.9334C>T (p.Pro3112Ser) rs534490490 0.00009
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.6348C>T (p.Asp2116=) rs144430478 0.00008
NM_006031.6(PCNT):c.6625G>A (p.Ala2209Thr) rs769183047 0.00008
NM_006031.6(PCNT):c.6887C>T (p.Pro2296Leu) rs199844366 0.00008
NM_006031.6(PCNT):c.8895G>A (p.Ala2965=) rs572222540 0.00008
NM_006031.6(PCNT):c.1876G>A (p.Val626Ile) rs201507947 0.00007
NM_006031.6(PCNT):c.418C>T (p.Pro140Ser) rs774241611 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.1943C>G (p.Pro648Arg) rs752992538 0.00006
NM_006031.6(PCNT):c.3648G>A (p.Pro1216=) rs756724097 0.00005
NM_006031.6(PCNT):c.5323C>G (p.Leu1775Val) rs147409139 0.00005
NM_006031.6(PCNT):c.6922-4A>G rs587784317 0.00005
NM_006031.6(PCNT):c.7577C>G (p.Ala2526Gly) rs746987536 0.00005
NM_006031.6(PCNT):c.8209C>T (p.Arg2737Trp) rs369377623 0.00005
NM_006031.6(PCNT):c.1246A>G (p.Ile416Val) rs368199588 0.00004
NM_006031.6(PCNT):c.1995G>T (p.Glu665Asp) rs768518510 0.00004
NM_006031.6(PCNT):c.3108C>T (p.Thr1036=) rs182694054 0.00004
NM_006031.6(PCNT):c.5803G>C (p.Val1935Leu) rs774248299 0.00004
NM_006031.6(PCNT):c.6032C>T (p.Ala2011Val) rs145119952 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.1790T>C (p.Leu597Ser) rs371296160 0.00003
NM_006031.6(PCNT):c.1963G>T (p.Val655Leu) rs756261885 0.00003
NM_006031.6(PCNT):c.363A>C (p.Thr121=) rs150766997 0.00003
NM_006031.6(PCNT):c.6298A>G (p.Met2100Val) rs777875886 0.00003
NM_006031.6(PCNT):c.6884C>T (p.Pro2295Leu) rs572123043 0.00003
NM_006031.6(PCNT):c.1606G>A (p.Glu536Lys) rs750239503 0.00002
NM_006031.6(PCNT):c.3710A>G (p.His1237Arg) rs761299168 0.00002
NM_006031.6(PCNT):c.6991G>A (p.Gly2331Arg) rs775387368 0.00002
NM_006031.6(PCNT):c.8365G>A (p.Ala2789Thr) rs753073203 0.00002
NM_006031.6(PCNT):c.2991T>C (p.Phe997=) rs767625587 0.00001
NM_006031.6(PCNT):c.3443T>C (p.Val1148Ala) rs762148129 0.00001
NM_006031.6(PCNT):c.3798C>T (p.Ala1266=) rs769080650 0.00001
NM_006031.6(PCNT):c.3924G>A (p.Lys1308=) rs139543323 0.00001
NM_006031.6(PCNT):c.4143G>A (p.Ala1381=) rs111697920 0.00001
NM_006031.6(PCNT):c.49A>G (p.Thr17Ala) rs1055522433 0.00001
NM_006031.6(PCNT):c.5395A>T (p.Lys1799Ter) rs199566483 0.00001
NM_006031.6(PCNT):c.5411G>A (p.Arg1804Gln) rs762385391 0.00001
NM_006031.6(PCNT):c.5636C>G (p.Ala1879Gly) rs1352792544 0.00001
NM_006031.6(PCNT):c.6390T>C (p.Asp2130=) rs1179241242 0.00001
NM_006031.6(PCNT):c.9842C>T (p.Ala3281Val) rs988693930 0.00001
NM_006031.6(PCNT):c.1032+141T>C rs117843059
NM_006031.6(PCNT):c.1393G>A (p.Glu465Lys) rs1555953206
NM_006031.6(PCNT):c.1457-250C>A rs58936150
NM_006031.6(PCNT):c.1542C>A (p.Ser514=) rs2249057
NM_006031.6(PCNT):c.1640G>A (p.Gly547Glu) rs1057522262
NM_006031.6(PCNT):c.1679+224C>G rs115924763
NM_006031.6(PCNT):c.1679+314GT[3] rs147389000
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.1761+270= rs35539251
NM_006031.6(PCNT):c.1843C>T (p.Gln615Ter) rs777830265
NM_006031.6(PCNT):c.1885_1886delinsAA (p.Ser629Lys) rs1555955867
NM_006031.6(PCNT):c.1971C>G (p.Asp657Glu) rs150892737
NM_006031.6(PCNT):c.202G>C (p.Asp68His) rs1216804302
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.268-193C>A rs1021389888
NM_006031.6(PCNT):c.2984_2994del (p.Ala995fs) rs587784302
NM_006031.6(PCNT):c.3086C>G (p.Ser1029Cys)
NM_006031.6(PCNT):c.3109G>T (p.Glu1037Ter) rs119479063
NM_006031.6(PCNT):c.3165+135G>T rs114734904
NM_006031.6(PCNT):c.3165+187del rs35676009
NM_006031.6(PCNT):c.3165+187dup rs35676009
NM_006031.6(PCNT):c.3264del (p.Glu1089fs)
NM_006031.6(PCNT):c.3312+151A>G rs78213973
NM_006031.6(PCNT):c.3312+160G>C rs75351856
NM_006031.6(PCNT):c.3312+171G>A rs79769247
NM_006031.6(PCNT):c.3312+226_3312+232del rs1342651494
NM_006031.6(PCNT):c.3481G>A (p.Ala1161Thr) rs150279909
NM_006031.6(PCNT):c.3553G>A (p.Glu1185Lys) rs920374957
NM_006031.6(PCNT):c.3841-103_3841-101dup rs3831446
NM_006031.6(PCNT):c.398del (p.Phe133fs) rs1131691484
NM_006031.6(PCNT):c.4217-341G>T rs118147673
NM_006031.6(PCNT):c.428G>A (p.Arg143His) rs58106867
NM_006031.6(PCNT):c.4447-254_4447-244dup rs57503743
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.4477G>A (p.Glu1493Lys)
NM_006031.6(PCNT):c.4571C>G (p.Pro1524Arg) rs35513449
NM_006031.6(PCNT):c.4585-230T>C rs74788394
NM_006031.6(PCNT):c.4585-230T>G rs74788394
NM_006031.6(PCNT):c.4585-284T>G rs73907495
NM_006031.6(PCNT):c.467_505del (p.His156_Gln168del) rs587784306
NM_006031.6(PCNT):c.467_505dup (p.His156_Gln168dup) rs587784306
NM_006031.6(PCNT):c.467_583dup (p.His156_Gln194dup) rs1555945598
NM_006031.6(PCNT):c.4792-215C>T rs11701999
NM_006031.6(PCNT):c.4792-318A>G rs116328527
NM_006031.6(PCNT):c.4963-180dup rs11417856
NM_006031.6(PCNT):c.4963-190dup rs11391105
NM_006031.6(PCNT):c.5047T>C (p.Leu1683=) rs145305649
NM_006031.6(PCNT):c.5155G>A (p.Ala1719Thr) rs1290537073
NM_006031.6(PCNT):c.5177A>G (p.Glu1726Gly) rs1555984919
NM_006031.6(PCNT):c.5253C>G (p.His1751Gln) rs114799541
NM_006031.6(PCNT):c.54+141C>T rs552938132
NM_006031.6(PCNT):c.5563C>T (p.Arg1855Trp) rs151138182
NM_006031.6(PCNT):c.5607G>A (p.Thr1869=) rs763347923
NM_006031.6(PCNT):c.5979_5981dup (p.Val1994dup) rs2147680118
NM_006031.6(PCNT):c.5982C>G (p.Val1994=) rs552463011
NM_006031.6(PCNT):c.5994+59G>A rs73909504
NM_006031.6(PCNT):c.6142G>A (p.Gly2048Ser)
NM_006031.6(PCNT):c.6150+109C>T rs61544820
NM_006031.6(PCNT):c.6150+112G>A rs10222118
NM_006031.6(PCNT):c.6150+11G>C rs10222116
NM_006031.6(PCNT):c.6150+309A>G rs4577376
NM_006031.6(PCNT):c.6150+34G>C rs547655993
NM_006031.6(PCNT):c.6150+94G>C rs113205962
NM_006031.6(PCNT):c.6366_6367del (p.Ser2123fs) rs1064793985
NM_006031.6(PCNT):c.6899del (p.His2300fs)
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.7059G>A (p.Pro2353=) rs149413536
NM_006031.6(PCNT):c.7162C>T (p.Arg2388Cys) rs201562329
NM_006031.6(PCNT):c.7179+308_7179+324dup rs58502414
NM_006031.6(PCNT):c.7180-41G>T rs8128866
NM_006031.6(PCNT):c.721-13T>G rs748762743
NM_006031.6(PCNT):c.7320+106_7320+107insCTT rs199593779
NM_006031.6(PCNT):c.7320+106_7320+107insCTTT rs1281325072
NM_006031.6(PCNT):c.7320+116_7320+125del rs760416456
NM_006031.6(PCNT):c.7320+124_7320+125del rs760416456
NM_006031.6(PCNT):c.7320+125dup rs760416456
NM_006031.6(PCNT):c.7320+130_7320+131insAGAGTCTCGCTGTCTCTACCAGGCTGGAGTGCAGTGGCACAATC rs1555996907
NM_006031.6(PCNT):c.7559_7561delinsGGCC (p.Glu2520fs) rs1601176084
NM_006031.6(PCNT):c.7562T>C (p.Ile2521Thr) rs1415348820
NM_006031.6(PCNT):c.764G>A (p.Ser255Asn)
NM_006031.6(PCNT):c.7691-95A>G rs149884710
NM_006031.6(PCNT):c.7727G>A (p.Cys2576Tyr) rs2147962858
NM_006031.6(PCNT):c.7819C>T (p.Arg2607Ter) rs749426946
NM_006031.6(PCNT):c.7977G>T (p.Gln2659His) rs2070426
NM_006031.6(PCNT):c.8064+245dup rs560879641
NM_006031.6(PCNT):c.8064+84del rs11285369
NM_006031.6(PCNT):c.8201C>T (p.Ala2734Val)
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.8751+98C>T rs7283044
NM_006031.6(PCNT):c.8752-308G>A rs60407402
NM_006031.6(PCNT):c.8830_8832del (p.Lys2944del) rs562568796
NM_006031.6(PCNT):c.8889G>A (p.Ser2963=) rs151325202
NM_006031.6(PCNT):c.8996+332_8996+333insGC rs1556004505
NM_006031.6(PCNT):c.8996+96C>G rs375170457
NM_006031.6(PCNT):c.8997-220G>A rs75710283
NM_006031.6(PCNT):c.8997-222G>A rs35418111
NM_006031.6(PCNT):c.9041C>G (p.Ser3014Cys)
NM_006031.6(PCNT):c.9099+249_9099+297del rs879348635
NM_006031.6(PCNT):c.9278C>G (p.Ser3093Trp) rs374857206
NM_006031.6(PCNT):c.9352C>A (p.Pro3118Thr) rs1057520975
NM_006031.6(PCNT):c.9393+1G>A
NM_006031.6(PCNT):c.9535dup (p.Val3179fs) rs747058622
NM_006031.6(PCNT):c.9701-201C>G rs2839263
NM_006031.6(PCNT):c.9752dup (p.Thr3252fs)
NM_006031.6(PCNT):c.9839+6T>C
NM_006031.6(PCNT):c.9840-15G>C rs564095021
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.9886T>C (p.Ser3296Pro) rs752708321
NM_006031.6(PCNT):c.9905C>T (p.Ser3302Phe) rs2148140916
NM_006031.6(PCNT):c.9967+198C>A rs77487457
NM_006031.6(PCNT):c.9968-223dup rs147675714

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