ClinVar Miner

List of variants in gene PCNT studied for Microcephalic osteodysplastic primordial dwarfism type II

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 575
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HGVS dbSNP gnomAD frequency
NM_006031.6(PCNT):c.8751+23dup rs5844270 1.00000
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.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.720+17T>C rs9982233 0.67221
NM_006031.6(PCNT):c.7977G>C (p.Gln2659His) rs2070426 0.48521
NM_006031.6(PCNT):c.8996+45C>A rs2236616 0.33111
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.4915A>G (p.Ile1639Val) rs6518291 0.31129
NM_006031.6(PCNT):c.2635A>G (p.Thr879Ala) rs2839227 0.26258
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.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.6563T>G (p.Met2188Arg) rs1044998 0.18680
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.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.5631C>T (p.Ile1877=) rs16979162 0.18249
NM_006031.6(PCNT):c.9735A>C (p.Arg3245Ser) rs2073380 0.17969
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.2415C>G (p.Ala805=) rs61407822 0.13635
NM_006031.6(PCNT):c.1616C>T (p.Thr539Ile) rs2249060 0.12572
NM_006031.6(PCNT):c.3487C>T (p.Arg1163Cys) rs7279204 0.11770
NM_006031.6(PCNT):c.8811A>G (p.Thr2937=) rs17371795 0.11349
NM_006031.6(PCNT):c.8418G>A (p.Ala2806=) rs9983522 0.11315
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.5634C>T (p.Asp1878=) rs61735811 0.05866
NM_006031.6(PCNT):c.8707G>A (p.Ala2903Thr) rs35147998 0.05666
NM_006031.6(PCNT):c.711T>G (p.His237Gln) rs34500739 0.05250
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.7536G>A (p.Pro2512=) rs61735818 0.04944
NM_006031.6(PCNT):c.7074T>C (p.Pro2358=) rs61735815 0.04931
NM_006031.6(PCNT):c.54+6C>T rs80017051 0.04471
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.520A>G (p.Ile174Val) rs61735822 0.03881
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.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.6739C>T (p.His2247Tyr) rs61735812 0.01575
NM_006031.6(PCNT):c.7652C>T (p.Ala2551Val) rs12481791 0.01548
NM_006031.6(PCNT):c.5742G>A (p.Ala1914=) rs61735810 0.01545
NM_006031.6(PCNT):c.7800G>A (p.Ala2600=) rs61735820 0.01494
NM_006031.6(PCNT):c.4962+10G>A rs114474454 0.01225
NM_006031.6(PCNT):c.9015G>A (p.Thr3005=) rs79359463 0.00973
NM_006031.6(PCNT):c.6616A>G (p.Thr2206Ala) rs9981448 0.00833
NM_006031.6(PCNT):c.3615G>A (p.Ala1205=) rs61735806 0.00816
NM_006031.6(PCNT):c.4572G>A (p.Pro1524=) rs116431741 0.00812
NM_006031.6(PCNT):c.4910C>T (p.Pro1637Leu) rs34849154 0.00771
NM_006031.6(PCNT):c.7159G>A (p.Val2387Met) rs75024419 0.00771
NM_006031.6(PCNT):c.7353G>A (p.Gly2451=) rs61735816 0.00767
NM_006031.6(PCNT):c.7914-4G>A rs76287849 0.00764
NM_006031.6(PCNT):c.7404G>C (p.Gln2468His) rs77075366 0.00759
NM_006031.6(PCNT):c.8065-19G>A rs78561636 0.00750
NM_006031.6(PCNT):c.8671G>A (p.Ala2891Thr) rs33956783 0.00733
NM_006031.6(PCNT):c.2575G>A (p.Asp859Asn) rs115369710 0.00703
NM_006031.6(PCNT):c.7398G>A (p.Glu2466=) rs114739559 0.00679
NM_006031.6(PCNT):c.7914-5C>T rs114120845 0.00679
NM_006031.6(PCNT):c.8924T>C (p.Leu2975Pro) rs35881595 0.00647
NM_006031.6(PCNT):c.7656C>T (p.Arg2552=) rs61735819 0.00644
NM_006031.6(PCNT):c.6986C>G (p.Pro2329Arg) rs35848602 0.00640
NM_006031.6(PCNT):c.5771C>T (p.Ala1924Val) rs184420466 0.00604
NM_006031.6(PCNT):c.8646G>C (p.Leu2882Phe) rs141771795 0.00596
NM_006031.6(PCNT):c.5954C>T (p.Ser1985Phe) rs140398533 0.00585
NM_006031.6(PCNT):c.8752-5A>C rs149444205 0.00573
NM_006031.6(PCNT):c.6634C>T (p.Arg2212Trp) rs144471022 0.00516
NM_006031.6(PCNT):c.9099+12G>A rs140828051 0.00457
NM_006031.6(PCNT):c.4285C>T (p.Arg1429Cys) rs62224222 0.00437
NM_006031.6(PCNT):c.9623+8C>T rs75758339 0.00388
NM_006031.6(PCNT):c.4345C>G (p.Gln1449Glu) rs139432601 0.00379
NM_006031.6(PCNT):c.9720G>A (p.Pro3240=) rs141991283 0.00331
NM_006031.6(PCNT):c.6933C>T (p.Val2311=) rs148444313 0.00289
NM_006031.6(PCNT):c.1784C>T (p.Ala595Val) rs143028464 0.00265
NM_006031.6(PCNT):c.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.4142C>T (p.Ala1381Val) rs114383833 0.00221
NM_006031.6(PCNT):c.9291T>C (p.Ala3097=) rs150554265 0.00209
NM_006031.6(PCNT):c.9700+10C>T rs199917135 0.00195
NM_006031.6(PCNT):c.5710G>A (p.Ala1904Thr) rs200426591 0.00188
NM_006031.6(PCNT):c.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.7180-8C>T rs143511166 0.00108
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.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.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.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.979G>C (p.Glu327Gln) rs575720246 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.2264T>G (p.Met755Arg) rs201827977 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.8399G>A (p.Arg2800Gln) rs146792192 0.00036
NM_006031.6(PCNT):c.9099+13C>T rs376185703 0.00035
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.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.6195T>G (p.Asp2065Glu) rs148389745 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.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.7993C>T (p.Leu2665=) rs370099497 0.00026
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.5726C>T (p.Pro1909Leu) rs781468861 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.6277G>A (p.Asp2093Asn) rs200303861 0.00020
NM_006031.6(PCNT):c.7297T>C (p.Ser2433Pro) rs113536916 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.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.8401G>C (p.Val2801Leu) rs138868039 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.934C>T (p.Arg312Trp) rs572076735 0.00015
NM_006031.6(PCNT):c.9584G>A (p.Arg3195Lys) rs78524660 0.00015
NM_006031.6(PCNT):c.7459C>G (p.Leu2487Val) rs201185279 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.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.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.7413G>A (p.Glu2471=) rs191561981 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.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.5582C>T (p.Ala1861Val) rs373238616 0.00011
NM_006031.6(PCNT):c.8930C>T (p.Ala2977Val) rs146657011 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.6395A>G (p.Asn2132Ser) rs886057187 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.1590T>C (p.Ala530=) rs200294006 0.00009
NM_006031.6(PCNT):c.244G>A (p.Ala82Thr) rs143870030 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.5477G>C (p.Gly1826Ala) rs199847432 0.00009
NM_006031.6(PCNT):c.6822G>A (p.Pro2274=) rs375741970 0.00009
NM_006031.6(PCNT):c.7689G>T (p.Gln2563His) rs199936673 0.00009
NM_006031.6(PCNT):c.9099+8G>T rs369178196 0.00009
NM_006031.6(PCNT):c.9235T>C (p.Leu3079=) rs144651746 0.00009
NM_006031.6(PCNT):c.*421A>G rs886057198 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.721-5C>T rs144683591 0.00008
NM_006031.6(PCNT):c.8895G>A (p.Ala2965=) rs572222540 0.00008
NM_006031.6(PCNT):c.1236T>C (p.His412=) rs769637090 0.00007
NM_006031.6(PCNT):c.3221G>A (p.Arg1074Gln) rs756810982 0.00007
NM_006031.6(PCNT):c.3885T>C (p.Phe1295=) rs755298136 0.00007
NM_006031.6(PCNT):c.505C>T (p.Arg169Cys) rs748260212 0.00007
NM_006031.6(PCNT):c.8959C>T (p.Arg2987Trp) rs587784322 0.00007
NM_006031.6(PCNT):c.16G>C (p.Glu6Gln) rs761540486 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.4387C>A (p.Leu1463Met) rs193261408 0.00006
NM_006031.6(PCNT):c.4605G>T (p.Lys1535Asn) rs775413533 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.5960A>T (p.Asp1987Val) rs374300652 0.00006
NM_006031.6(PCNT):c.6295C>T (p.Pro2099Ser) rs371054707 0.00006
NM_006031.6(PCNT):c.8116G>A (p.Val2706Met) rs780988556 0.00006
NM_006031.6(PCNT):c.8564G>A (p.Arg2855Gln) rs568559091 0.00006
NM_006031.6(PCNT):c.9279G>A (p.Ser3093=) rs199596313 0.00006
NM_006031.6(PCNT):c.9698C>G (p.Pro3233Arg) rs373681566 0.00006
NM_006031.6(PCNT):c.1181T>C (p.Ile394Thr) rs200545088 0.00005
NM_006031.6(PCNT):c.3395G>A (p.Arg1132Gln) rs200148867 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.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.7913+4C>T rs376736200 0.00005
NM_006031.6(PCNT):c.*110G>A rs773970145 0.00004
NM_006031.6(PCNT):c.1457-5T>A rs769237607 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.3108C>T (p.Thr1036=) rs182694054 0.00004
NM_006031.6(PCNT):c.4791+8G>A rs769352853 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.5849G>A (p.Arg1950Gln) rs753398573 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.6644C>T (p.Pro2215Leu) rs750958898 0.00004
NM_006031.6(PCNT):c.6768C>T (p.Ala2256=) rs755956494 0.00004
NM_006031.6(PCNT):c.7568C>T (p.Ala2523Val) rs368569999 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.8268G>T (p.Glu2756Asp) rs764010211 0.00004
NM_006031.6(PCNT):c.8873G>A (p.Arg2958His) rs574728262 0.00004
NM_006031.6(PCNT):c.9532G>C (p.Gly3178Arg) rs372024492 0.00004
NM_006031.6(PCNT):c.9706C>T (p.Arg3236Ter) rs757793925 0.00004
NM_006031.6(PCNT):c.2647A>G (p.Ser883Gly) rs771897801 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.3464G>A (p.Arg1155Lys) rs886057181 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.481G>A (p.Val161Ile) rs555841008 0.00003
NM_006031.6(PCNT):c.5431C>T (p.Arg1811Cys) rs587784309 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.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.6884C>T (p.Pro2295Leu) rs572123043 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.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.9304G>A (p.Glu3102Lys) rs775636867 0.00003
NM_006031.6(PCNT):c.9719C>T (p.Pro3240Leu) rs138860570 0.00003
NM_006031.6(PCNT):c.1468C>T (p.Gln490Ter) rs181690344 0.00002
NM_006031.6(PCNT):c.2865C>T (p.Ala955=) rs540548340 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.3710A>G (p.His1237Arg) rs761299168 0.00002
NM_006031.6(PCNT):c.3880G>T (p.Glu1294Ter) rs1359618876 0.00002
NM_006031.6(PCNT):c.4351C>T (p.Arg1451Cys) rs200606073 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.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.7045G>C (p.Ala2349Pro) rs772025323 0.00002
NM_006031.6(PCNT):c.7167G>A (p.Pro2389=) rs745406750 0.00002
NM_006031.6(PCNT):c.7465G>A (p.Glu2489Lys) rs148485670 0.00002
NM_006031.6(PCNT):c.8257C>T (p.Arg2753Cys) rs772107252 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.9174G>A (p.Ala3058=) rs554275370 0.00002
NM_006031.6(PCNT):c.*126A>G rs2053728715 0.00001
NM_006031.6(PCNT):c.1064A>G (p.Asp355Gly) rs753659648 0.00001
NM_006031.6(PCNT):c.1335A>G (p.Lys445=) rs771882821 0.00001
NM_006031.6(PCNT):c.1479G>A (p.Ala493=) rs199864153 0.00001
NM_006031.6(PCNT):c.1737T>C (p.Asp579=) rs1170990391 0.00001
NM_006031.6(PCNT):c.2610-7G>A rs753811883 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.2842G>A (p.Glu948Lys) rs752300035 0.00001
NM_006031.6(PCNT):c.3030G>A (p.Thr1010=) rs752831769 0.00001
NM_006031.6(PCNT):c.3092G>A (p.Arg1031Gln) rs544000220 0.00001
NM_006031.6(PCNT):c.3443T>C (p.Val1148Ala) rs762148129 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.3840G>C (p.Gln1280His) rs1569239749 0.00001
NM_006031.6(PCNT):c.3992A>G (p.His1331Arg) rs34012939 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.4462C>T (p.Arg1488Trp) rs371945746 0.00001
NM_006031.6(PCNT):c.4563+15C>T rs1234384421 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.4697G>A (p.Arg1566His) rs776095839 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.5105C>T (p.Thr1702Met) rs768063203 0.00001
NM_006031.6(PCNT):c.5402C>A (p.Ala1801Asp) rs759289691 0.00001
NM_006031.6(PCNT):c.5543A>G (p.Glu1848Gly) rs201943167 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.6185C>T (p.Pro2062Leu) rs376147151 0.00001
NM_006031.6(PCNT):c.6192C>T (p.Val2064=) rs1229663143 0.00001
NM_006031.6(PCNT):c.6412dup (p.Val2138fs) rs746584417 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.6983C>T (p.Pro2328Leu) rs747212974 0.00001
NM_006031.6(PCNT):c.7104T>C (p.Pro2368=) rs576187743 0.00001
NM_006031.6(PCNT):c.7230A>G (p.Ser2410=) rs1292668105 0.00001
NM_006031.6(PCNT):c.7321-10C>T rs587784318 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.7699C>T (p.Leu2567=) rs766025734 0.00001
NM_006031.6(PCNT):c.7836C>T (p.Asp2612=) rs757858684 0.00001
NM_006031.6(PCNT):c.8325A>G (p.Thr2775=) rs776706307 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.8752C>T (p.Arg2918Ter) rs119479064 0.00001
NM_006031.6(PCNT):c.8771G>A (p.Arg2924His) rs139830890 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.9250C>G (p.Leu3084Val) rs760545245 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_006031.5(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.*318A>G rs1242193691
NM_006031.6(PCNT):c.10000dup (p.Ile3334fs)
NM_006031.6(PCNT):c.1032+1G>A rs1569178877
NM_006031.6(PCNT):c.1083A>G (p.Leu361=) rs758561093
NM_006031.6(PCNT):c.1147G>T (p.Glu383Ter)
NM_006031.6(PCNT):c.1334_1335del (p.Lys445fs)
NM_006031.6(PCNT):c.1344+2T>C
NM_006031.6(PCNT):c.1345-1G>T
NM_006031.6(PCNT):c.1396G>A (p.Glu466Lys) rs2084269624
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.1457-12G>A rs756968448
NM_006031.6(PCNT):c.1483A>G (p.Thr495Ala) rs2084338403
NM_006031.6(PCNT):c.1528dup (p.Thr510fs) rs1369869782
NM_006031.6(PCNT):c.1542C>A (p.Ser514=) rs2249057
NM_006031.6(PCNT):c.1542C>T (p.Ser514=) rs2249057
NM_006031.6(PCNT):c.1586A>G (p.Asp529Gly) rs2084341884
NM_006031.6(PCNT):c.1680-2A>G rs1555954786
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.1813C>G (p.Leu605Val) rs2084439675
NM_006031.6(PCNT):c.1887del (p.Ala630fs) rs397509366
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.2062C>T (p.Leu688Phe)
NM_006031.6(PCNT):c.2075T>C (p.Ile692Thr) rs886057179
NM_006031.6(PCNT):c.2154+7C>A rs376236418
NM_006031.6(PCNT):c.2155-21_2186del rs1555959737
NM_006031.6(PCNT):c.2317G>T (p.Glu773Ter)
NM_006031.6(PCNT):c.2374C>T (p.Arg792Ter) rs151020551
NM_006031.6(PCNT):c.2407C>T (p.Gln803Ter) rs1569201595
NM_006031.6(PCNT):c.2470C>T (p.Leu824=) rs61735803
NM_006031.6(PCNT):c.2545G>T (p.Gly849Trp) rs776223654
NM_006031.6(PCNT):c.262G>A (p.Ala88Thr) rs768342760
NM_006031.6(PCNT):c.2742A>G (p.Ser914=) rs587784301
NM_006031.6(PCNT):c.2750C>T (p.Ala917Val) rs763541418
NM_006031.6(PCNT):c.2812C>T (p.Gln938Ter)
NM_006031.6(PCNT):c.2984_2994del (p.Ala995fs) rs587784302
NM_006031.6(PCNT):c.3058A>T (p.Lys1020Ter) rs1555962301
NM_006031.6(PCNT):c.3109G>T (p.Glu1037Ter) rs119479063
NM_006031.6(PCNT):c.3206A>G (p.Lys1069Arg) rs886057180
NM_006031.6(PCNT):c.321G>T (p.Lys107Asn) rs138834119
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.3282G>T (p.Gln1094His) rs78484478
NM_006031.6(PCNT):c.3333C>T (p.Ser1111=) rs2085811037
NM_006031.6(PCNT):c.3418CTC[1] (p.Leu1141del) rs759470656
NM_006031.6(PCNT):c.3423del (p.Ser1142fs) rs2085816295
NM_006031.6(PCNT):c.3460G>T (p.Glu1154Ter) rs387906928
NM_006031.6(PCNT):c.3465-1G>C rs755084205
NM_006031.6(PCNT):c.3568dup (p.Cys1190fs) rs397514033
NM_006031.6(PCNT):c.3669dup (p.Glu1224Ter)
NM_006031.6(PCNT):c.366_369del (p.Ser123fs) rs1569162602
NM_006031.6(PCNT):c.3682A>G (p.Met1228Val) rs886057182
NM_006031.6(PCNT):c.3762G>A (p.Gln1254=) rs886057184
NM_006031.6(PCNT):c.379C>G (p.Pro127Ala) rs139106698
NM_006031.6(PCNT):c.3812T>G (p.Met1271Arg) rs1484681697
NM_006031.6(PCNT):c.3928C>T (p.Gln1310Ter)
NM_006031.6(PCNT):c.398del (p.Phe133fs) rs1131691484
NM_006031.6(PCNT):c.4177G>T (p.Gly1393Trp) rs753662756
NM_006031.6(PCNT):c.428G>A (p.Arg143His) rs58106867
NM_006031.6(PCNT):c.428_466dup (p.Arg143_Gln155dup) rs759009997
NM_006031.6(PCNT):c.4366C>T (p.Gln1456Ter) rs1569249386
NM_006031.6(PCNT):c.4432C>T (p.Arg1478Trp) rs549834885
NM_006031.6(PCNT):c.4448_4791+1del
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.4551T>C (p.Pro1517=) rs762692764
NM_006031.6(PCNT):c.4571C>G (p.Pro1524Arg) rs35513449
NM_006031.6(PCNT):c.4584+11G>A rs752879780
NM_006031.6(PCNT):c.4584+11G>C rs752879780
NM_006031.6(PCNT):c.4655C>A (p.Ser1552Ter) rs915028258
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.4769A>G (p.Asn1590Ser) rs587784307
NM_006031.6(PCNT):c.4938_4939del (p.Arg1646fs) rs797045879
NM_006031.6(PCNT):c.4974_4977del (p.Lys1659fs) rs2147503631
NM_006031.6(PCNT):c.5020G>T (p.Glu1674Ter) rs587784308
NM_006031.6(PCNT):c.5039A>C (p.Asn1680Thr) rs1296247151
NM_006031.6(PCNT):c.5055dup (p.Gln1686fs)
NM_006031.6(PCNT):c.5059_5060del (p.Asn1687fs) rs2147504920
NM_006031.6(PCNT):c.509G>C (p.Gly170Ala) rs761232554
NM_006031.6(PCNT):c.513G>C (p.Met171Ile) rs142422937
NM_006031.6(PCNT):c.5257C>T (p.Leu1753=) rs886057185
NM_006031.6(PCNT):c.5320G>C (p.Glu1774Gln) rs201709021
NM_006031.6(PCNT):c.533A>C (p.Gln178Pro) rs200285580
NM_006031.6(PCNT):c.5347C>T (p.Pro1783Ser) rs61735809
NM_006031.6(PCNT):c.537G>A (p.Pro179=) rs754732068
NM_006031.6(PCNT):c.5443C>T (p.Gln1815Ter) rs750764149
NM_006031.6(PCNT):c.546_547del (p.Gly183fs)
NM_006031.6(PCNT):c.5470C>T (p.Leu1824Phe) rs1602005527
NM_006031.6(PCNT):c.5482G>T (p.Glu1828Ter) rs1315359733
NM_006031.6(PCNT):c.5505G>A (p.Leu1835=)
NM_006031.6(PCNT):c.5563C>A (p.Arg1855=) rs151138182
NM_006031.6(PCNT):c.5578G>T (p.Glu1860Ter) rs369195346
NM_006031.6(PCNT):c.5632G>C (p.Asp1878His)
NM_006031.6(PCNT):c.5677G>T (p.Ala1893Ser) rs587784311
NM_006031.6(PCNT):c.5719C>T (p.Gln1907Ter) rs2086794191
NM_006031.6(PCNT):c.5727_5736del (p.Leu1910fs) rs587784312
NM_006031.6(PCNT):c.5774A>C (p.Gln1925Pro) rs587784313
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.5813A>C (p.Gln1938Pro) rs2086799208
NM_006031.6(PCNT):c.583C>T (p.Arg195Cys) rs199564971
NM_006031.6(PCNT):c.5874C>T (p.His1958=) rs2086801367
NM_006031.6(PCNT):c.5905C>T (p.Arg1969Cys)
NM_006031.6(PCNT):c.597A>T (p.Thr199=)
NM_006031.6(PCNT):c.5982C>G (p.Val1994=) rs552463011
NM_006031.6(PCNT):c.6024G>C (p.Leu2008Phe)
NM_006031.6(PCNT):c.607del (p.His203fs) rs767416279
NM_006031.6(PCNT):c.6147C>T (p.Gly2049=) rs2086841170
NM_006031.6(PCNT):c.6150+11G>C rs10222116
NM_006031.6(PCNT):c.6316_6325del (p.Leu2106fs)
NM_006031.6(PCNT):c.6366_6367del (p.Ser2123fs) rs1064793985
NM_006031.6(PCNT):c.6410dup (p.Val2138fs) rs1173590566
NM_006031.6(PCNT):c.6468A>G (p.Pro2156=) rs886057189
NM_006031.6(PCNT):c.6564_6565del (p.Met2188fs)
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.6633C>T (p.Pro2211=) rs587784316
NM_006031.6(PCNT):c.6790G>A (p.Ala2264Thr) rs771286324
NM_006031.6(PCNT):c.6914C>T (p.Thr2305Met) rs770226991
NM_006031.6(PCNT):c.6922-4A>T rs587784317
NM_006031.6(PCNT):c.6922-5_6922-4insTCTGA rs59957960
NM_006031.6(PCNT):c.7126C>T (p.Gln2376Ter) rs1555993038
NM_006031.6(PCNT):c.7199G>A (p.Arg2400His)
NM_006031.6(PCNT):c.721-7G>T rs2839217
NM_006031.6(PCNT):c.7246C>T (p.Pro2416Ser) rs576796827
NM_006031.6(PCNT):c.7511del (p.Lys2504fs) rs2147940284
NM_006031.6(PCNT):c.7601A>G (p.Gln2534Arg)
NM_006031.6(PCNT):c.7648G>A (p.Glu2550Lys) rs71326327
NM_006031.6(PCNT):c.7681C>G (p.Arg2561Gly) rs751345838
NM_006031.6(PCNT):c.7690+5G>A rs754618153
NM_006031.6(PCNT):c.7796del (p.Leu2599fs) rs587784319
NM_006031.6(PCNT):c.7804G>T (p.Glu2602Ter) rs1555999948
NM_006031.6(PCNT):c.7903C>T (p.Leu2635Phe) rs372068143
NM_006031.6(PCNT):c.7G>C (p.Val3Leu) rs1175937762
NM_006031.6(PCNT):c.8018dup (p.Leu2674fs)
NM_006031.6(PCNT):c.8028C>T (p.His2676=) rs886057191
NM_006031.6(PCNT):c.8089C>A (p.Gln2697Lys) rs1211566024
NM_006031.6(PCNT):c.8107C>T (p.Arg2703Ter) rs758298374
NM_006031.6(PCNT):c.8114G>T (p.Cys2705Phe)
NM_006031.6(PCNT):c.8182C>T (p.Arg2728Cys)
NM_006031.6(PCNT):c.8223_8224del (p.Glu2742fs) rs2087769756
NM_006031.6(PCNT):c.8398C>T (p.Arg2800Trp) rs142608069
NM_006031.6(PCNT):c.844dup (p.Glu282fs) rs1601795448
NM_006031.6(PCNT):c.8591A>G (p.Glu2864Gly)
NM_006031.6(PCNT):c.8695C>T (p.Gln2899Ter)
NM_006031.6(PCNT):c.8752-2A>C rs1394951912
NM_006031.6(PCNT):c.8812G>A (p.Val2938Met)
NM_006031.6(PCNT):c.8818_8819del (p.Asp2940fs) rs1214290914
NM_006031.6(PCNT):c.8829G>A (p.Ser2943=) rs773483379
NM_006031.6(PCNT):c.8906G>A (p.Arg2969Gln)
NM_006031.6(PCNT):c.8947C>G (p.Leu2983Val) rs372356069
NM_006031.6(PCNT):c.8956G>A (p.Ala2986Thr) rs201877661
NM_006031.6(PCNT):c.8996+10C>G rs748036380
NM_006031.6(PCNT):c.8996+5G>A rs886057193
NM_006031.6(PCNT):c.9195_9196insGA (p.Lys3066fs) rs1569308924
NM_006031.6(PCNT):c.9211A>G (p.Arg3071Gly) rs886057194
NM_006031.6(PCNT):c.924G>A (p.Glu308=) rs146178359
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.931G>A (p.Ala311Thr) rs140196457
NM_006031.6(PCNT):c.9393+1G>A
NM_006031.6(PCNT):c.9394-3T>C rs545618955
NM_006031.6(PCNT):c.9417C>G (p.Tyr3139Ter) rs2148093265
NM_006031.6(PCNT):c.9457AAG[1] (p.Lys3154del) rs2148093442
NM_006031.6(PCNT):c.9535dup (p.Val3179fs) rs747058622
NM_006031.6(PCNT):c.9564C>T (p.Ile3188=) rs201798996
NM_006031.6(PCNT):c.9611T>C (p.Ile3204Thr)
NM_006031.6(PCNT):c.9632T>G (p.Phe3211Cys) rs559822257
NM_006031.6(PCNT):c.9673C>G (p.Leu3225Val)
NM_006031.6(PCNT):c.9700+1G>A rs2148115298
NM_006031.6(PCNT):c.9715C>T (p.Gln3239Ter) rs1474939581
NM_006031.6(PCNT):c.9740G>A (p.Arg3247Lys) rs587784323
NM_006031.6(PCNT):c.9752C>T (p.Pro3251Leu)
NM_006031.6(PCNT):c.9820T>G (p.Ser3274Ala) rs144044246
NM_006031.6:c.(6921+1_6922-1)_(7024+1_7025-1)del
PCNT, 486-BP DEL, NT84

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