ClinVar Miner

List of variants in gene PCNT reported by Genetic Services Laboratory, University of Chicago

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 409
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HGVS dbSNP gnomAD frequency
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.9273+22T>C rs2051190 0.26843
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.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.5994+38T>C rs73907502 0.18733
NM_006031.6(PCNT):c.5994+48T>G rs73379348 0.18721
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.7913+40C>T rs1023161 0.18569
NM_006031.6(PCNT):c.7494+48G>A rs55937012 0.18558
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.640-38T>G rs2839216 0.12924
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.3465-40C>T rs7279052 0.11767
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.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.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.1937-44G>A rs17297961 0.04884
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.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.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.8671G>A (p.Ala2891Thr) rs33956783 0.00733
NM_006031.6(PCNT):c.2575G>A (p.Asp859Asn) rs115369710 0.00703
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.4285C>T (p.Arg1429Cys) rs62224222 0.00437
NM_006031.6(PCNT):c.9623+8C>T rs75758339 0.00388
NM_006031.6(PCNT):c.4345C>G (p.Gln1449Glu) rs139432601 0.00379
NM_006031.6(PCNT):c.7040T>C (p.Phe2347Ser) rs150704986 0.00341
NM_006031.6(PCNT):c.9720G>A (p.Pro3240=) rs141991283 0.00331
NM_006031.6(PCNT):c.6933C>T (p.Val2311=) rs148444313 0.00289
NM_006031.6(PCNT):c.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.8224G>C (p.Glu2742Gln) rs35557109 0.00238
NM_006031.6(PCNT):c.9700+10C>T rs199917135 0.00195
NM_006031.6(PCNT):c.7281C>T (p.Asp2427=) rs138588682 0.00186
NM_006031.6(PCNT):c.5614G>A (p.Glu1872Lys) rs112853262 0.00182
NM_006031.6(PCNT):c.5872C>G (p.His1958Asp) rs189308172 0.00163
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.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.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.4844C>T (p.Thr1615Met) rs139581644 0.00076
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.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.2866G>A (p.Asp956Asn) rs146728385 0.00056
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.979G>C (p.Glu327Gln) rs575720246 0.00045
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.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.3581C>T (p.Ala1194Val) rs138254119 0.00038
NM_006031.6(PCNT):c.7259C>T (p.Pro2420Leu) rs144633170 0.00038
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.6195T>G (p.Asp2065Glu) rs148389745 0.00029
NM_006031.6(PCNT):c.688C>T (p.Arg230Cys) rs143560718 0.00028
NM_006031.6(PCNT):c.6150+30C>A rs13046462 0.00026
NM_006031.6(PCNT):c.7541G>A (p.Arg2514Gln) rs370021414 0.00024
NM_006031.6(PCNT):c.5940C>T (p.Gly1980=) rs150436577 0.00021
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.7297T>C (p.Ser2433Pro) rs113536916 0.00019
NM_006031.6(PCNT):c.8951C>G (p.Ser2984Cys) rs376696104 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.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.7011T>C (p.Asp2337=) rs138506849 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.1370A>G (p.Glu457Gly) rs147868583 0.00015
NM_006031.6(PCNT):c.9584G>A (p.Arg3195Lys) rs78524660 0.00015
NM_006031.6(PCNT):c.4216+9C>T rs369876466 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.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.5826G>A (p.Arg1942=) rs536281306 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.1185T>C (p.Phe395=) rs764314231 0.00011
NM_006031.6(PCNT):c.4078C>T (p.Arg1360Cys) rs202221024 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.9123G>A (p.Gln3041=) rs753027643 0.00010
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.4527G>A (p.Ala1509=) rs142020803 0.00009
NM_006031.6(PCNT):c.4838C>T (p.Ala1613Val) rs546562229 0.00009
NM_006031.6(PCNT):c.5115G>A (p.Lys1705=) rs141860893 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.8537C>T (p.Thr2846Met) rs142800204 0.00009
NM_006031.6(PCNT):c.9155A>G (p.Asn3052Ser) rs779546932 0.00009
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.6876C>T (p.Ala2292=) rs761995771 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.1463A>G (p.His488Arg) rs201966670 0.00007
NM_006031.6(PCNT):c.3389G>A (p.Arg1130Gln) rs140003788 0.00007
NM_006031.6(PCNT):c.8115C>T (p.Cys2705=) rs756904669 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.2545G>A (p.Gly849Arg) rs776223654 0.00006
NM_006031.6(PCNT):c.2710C>T (p.Leu904Phe) rs61735804 0.00006
NM_006031.6(PCNT):c.4163G>A (p.Arg1388His) rs775895650 0.00006
NM_006031.6(PCNT):c.5743G>A (p.Ala1915Thr) rs550245456 0.00006
NM_006031.6(PCNT):c.6651G>T (p.Gly2217=) rs755119869 0.00006
NM_006031.6(PCNT):c.7634C>T (p.Ala2545Val) rs150303409 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.9698C>G (p.Pro3233Arg) rs373681566 0.00006
NM_006031.6(PCNT):c.9826C>T (p.His3276Tyr) rs202170105 0.00006
NM_006031.6(PCNT):c.6141C>T (p.Asp2047=) rs144445891 0.00005
NM_006031.6(PCNT):c.8977A>G (p.Thr2993Ala) rs375035745 0.00005
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.4371G>A (p.Ala1457=) rs761736816 0.00004
NM_006031.6(PCNT):c.4423C>T (p.Arg1475Cys) rs778468425 0.00004
NM_006031.6(PCNT):c.484A>G (p.Ser162Gly) rs755909353 0.00004
NM_006031.6(PCNT):c.591C>G (p.Ile197Met) rs559031201 0.00004
NM_006031.6(PCNT):c.6631C>T (p.Pro2211Ser) rs775124083 0.00004
NM_006031.6(PCNT):c.7568C>T (p.Ala2523Val) rs368569999 0.00004
NM_006031.6(PCNT):c.8873G>A (p.Arg2958His) rs574728262 0.00004
NM_006031.6(PCNT):c.9331C>T (p.Arg3111Cys) rs1007600831 0.00004
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.2154+8G>A rs778407564 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.3469G>C (p.Ala1157Pro) rs778900170 0.00003
NM_006031.6(PCNT):c.3571C>T (p.Leu1191=) rs370240856 0.00003
NM_006031.6(PCNT):c.5431C>T (p.Arg1811Cys) rs587784309 0.00003
NM_006031.6(PCNT):c.5679C>T (p.Ala1893=) rs761816773 0.00003
NM_006031.6(PCNT):c.6572C>A (p.Ser2191Tyr) rs587784315 0.00003
NM_006031.6(PCNT):c.6888G>A (p.Pro2296=) rs532762118 0.00003
NM_006031.6(PCNT):c.7198C>T (p.Arg2400Cys) rs751297741 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.8284C>T (p.Arg2762Trp) rs761885630 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.1468C>T (p.Gln490Ter) rs181690344 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.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.3710A>G (p.His1237Arg) rs761299168 0.00002
NM_006031.6(PCNT):c.3880G>T (p.Glu1294Ter) rs1359618876 0.00002
NM_006031.6(PCNT):c.4093C>T (p.Leu1365=) rs765239781 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.4929G>C (p.Val1643=) rs569351854 0.00002
NM_006031.6(PCNT):c.5992C>T (p.Gln1998Ter) rs757577162 0.00002
NM_006031.6(PCNT):c.7045G>C (p.Ala2349Pro) rs772025323 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.7988G>A (p.Arg2663His) rs778334017 0.00002
NM_006031.6(PCNT):c.8659G>A (p.Gly2887Arg) rs797045881 0.00002
NM_006031.6(PCNT):c.9174G>A (p.Ala3058=) rs554275370 0.00002
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.2272G>A (p.Glu758Lys) rs772683917 0.00001
NM_006031.6(PCNT):c.2809A>C (p.Lys937Gln) rs577883327 0.00001
NM_006031.6(PCNT):c.3443T>C (p.Val1148Ala) rs762148129 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.3992A>G (p.His1331Arg) rs34012939 0.00001
NM_006031.6(PCNT):c.4175G>A (p.Arg1392Gln) rs587784304 0.00001
NM_006031.6(PCNT):c.4311G>T (p.Lys1437Asn) rs765190339 0.00001
NM_006031.6(PCNT):c.4552C>T (p.Arg1518Cys) rs763712724 0.00001
NM_006031.6(PCNT):c.4585-3T>C rs777059690 0.00001
NM_006031.6(PCNT):c.4835T>C (p.Leu1612Pro) rs1296500904 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.5756T>C (p.Leu1919Pro) rs755667206 0.00001
NM_006031.6(PCNT):c.5767C>T (p.Arg1923Ter) rs119479062 0.00001
NM_006031.6(PCNT):c.6100C>T (p.Leu2034=) rs1346863140 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.6447G>A (p.Ala2149=) rs763122571 0.00001
NM_006031.6(PCNT):c.7104T>C (p.Pro2368=) rs576187743 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.7593G>A (p.Thr2531=) rs372531708 0.00001
NM_006031.6(PCNT):c.7644C>T (p.Ser2548=) rs369949793 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.8868dup (p.Ala2957fs) rs587784320 0.00001
NM_006031.6(PCNT):c.8917C>T (p.Arg2973Ter) rs587784321 0.00001
NM_006031.6(PCNT):c.9090C>T (p.Thr3030=) rs942925965 0.00001
NM_006031.6(PCNT):c.1208-8C>G rs2146597883
NM_006031.6(PCNT):c.1278G>A (p.Glu426=) rs773448951
NM_006031.6(PCNT):c.1300T>C (p.Leu434=) rs1384003964
NM_006031.6(PCNT):c.1380G>A (p.Lys460=) rs1555953192
NM_006031.6(PCNT):c.1489C>A (p.Arg497Ser) rs371251124
NM_006031.6(PCNT):c.1542C>A (p.Ser514=) rs2249057
NM_006031.6(PCNT):c.1680-2A>G rs1555954786
NM_006031.6(PCNT):c.1714_1717del (p.Lys572fs) rs797045875
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.175G>A (p.Glu59Lys) rs797045876
NM_006031.6(PCNT):c.1786G>A (p.Glu596Lys) rs2084438681
NM_006031.6(PCNT):c.1825G>C (p.Glu609Gln) rs529457692
NM_006031.6(PCNT):c.1975dup (p.Asp659fs) rs1555956600
NM_006031.6(PCNT):c.2019G>A (p.Leu673=) rs868039816
NM_006031.6(PCNT):c.2154+7C>T rs376236418
NM_006031.6(PCNT):c.2155-21_2186del rs1555959737
NM_006031.6(PCNT):c.2470C>T (p.Leu824=) rs61735803
NM_006031.6(PCNT):c.2610-50T>A rs9637173
NM_006031.6(PCNT):c.2628A>G (p.Lys876=) rs758820636
NM_006031.6(PCNT):c.268-5_268-3del rs751683541
NM_006031.6(PCNT):c.2742A>G (p.Ser914=) rs587784301
NM_006031.6(PCNT):c.2834G>A (p.Arg945His) rs183691508
NM_006031.6(PCNT):c.2984_2994del (p.Ala995fs) rs587784302
NM_006031.6(PCNT):c.3038C>T (p.Thr1013Ile) rs777758638
NM_006031.6(PCNT):c.3058A>T (p.Lys1020Ter) rs1555962301
NM_006031.6(PCNT):c.321G>T (p.Lys107Asn) rs138834119
NM_006031.6(PCNT):c.3223C>T (p.Leu1075Phe) rs2085550399
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.3411C>G (p.Gly1137=) rs375993930
NM_006031.6(PCNT):c.3550G>A (p.Gly1184Arg) rs752738005
NM_006031.6(PCNT):c.3564G>T (p.Gly1188=) rs1555973364
NM_006031.6(PCNT):c.3682A>T (p.Met1228Leu) rs886057182
NM_006031.6(PCNT):c.4001A>C (p.Gln1334Pro) rs1318648644
NM_006031.6(PCNT):c.4004-2A>G rs2147305680
NM_006031.6(PCNT):c.428G>A (p.Arg143His) rs58106867
NM_006031.6(PCNT):c.4411G>C (p.Asp1471His) rs2147403017
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.445A>T (p.Ser149Cys) rs111737555
NM_006031.6(PCNT):c.4518C>G (p.Leu1506=) rs954455553
NM_006031.6(PCNT):c.4563+9G>A rs750949882
NM_006031.6(PCNT):c.4571C>G (p.Pro1524Arg) rs35513449
NM_006031.6(PCNT):c.4611A>G (p.Arg1537=) rs587784305
NM_006031.6(PCNT):c.4625A>C (p.Glu1542Ala) rs797045877
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.4687G>C (p.Glu1563Gln) rs746297554
NM_006031.6(PCNT):c.469G>A (p.Gly157Arg) rs1555945637
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.5020G>T (p.Glu1674Ter) rs587784308
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.5253C>G (p.His1751Gln) rs114799541
NM_006031.6(PCNT):c.5347C>T (p.Pro1783Ser) rs61735809
NM_006031.6(PCNT):c.5482G>T (p.Glu1828Ter) rs1315359733
NM_006031.6(PCNT):c.5578G>T (p.Glu1860Ter) rs369195346
NM_006031.6(PCNT):c.5677G>T (p.Ala1893Ser) rs587784311
NM_006031.6(PCNT):c.5707_5708delinsTT (p.Arg1903Phe) rs2147674617
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>T (p.Arg1931Leu) rs776640595
NM_006031.6(PCNT):c.5982C>G (p.Val1994=) rs552463011
NM_006031.6(PCNT):c.5994+13dup rs772752236
NM_006031.6(PCNT):c.6150+11G>C rs10222116
NM_006031.6(PCNT):c.640-8T>G rs587784314
NM_006031.6(PCNT):c.6578C>T (p.Pro2193Leu) rs368565898
NM_006031.6(PCNT):c.6633C>T (p.Pro2211=) rs587784316
NM_006031.6(PCNT):c.6922-4A>T rs587784317
NM_006031.6(PCNT):c.6922-5_6922-4insTCTGA rs59957960
NM_006031.6(PCNT):c.7128G>T (p.Gln2376His) rs2147851397
NM_006031.6(PCNT):c.7180-41G>T rs8128866
NM_006031.6(PCNT):c.7354G>T (p.Asp2452Tyr) rs1006896204
NM_006031.6(PCNT):c.7454G>T (p.Ser2485Ile) rs797045880
NM_006031.6(PCNT):c.7648G>A (p.Glu2550Lys) rs71326327
NM_006031.6(PCNT):c.7796del (p.Leu2599fs) rs587784319
NM_006031.6(PCNT):c.7842_7843del (p.Cys2614_Glu2615delinsTer) rs2147963975
NM_006031.6(PCNT):c.8128C>T (p.His2710Tyr) rs987345147
NM_006031.6(PCNT):c.8398C>T (p.Arg2800Trp) rs142608069
NM_006031.6(PCNT):c.8622A>G (p.Glu2874=) rs774517427
NM_006031.6(PCNT):c.8707G>C (p.Ala2903Pro) rs35147998
NM_006031.6(PCNT):c.8731C>T (p.Gln2911Ter) rs898659540
NM_006031.6(PCNT):c.8786A>C (p.His2929Pro) rs1556003819
NM_006031.6(PCNT):c.8812G>A (p.Val2938Met)
NM_006031.6(PCNT):c.8820C>A (p.Asp2940Glu) rs797045882
NM_006031.6(PCNT):c.8889G>A (p.Ser2963=) rs151325202
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.8997G>A (p.Arg2999=) rs1288558445
NM_006031.6(PCNT):c.9028A>G (p.Lys3010Glu) rs797045883
NM_006031.6(PCNT):c.9051C>G (p.His3017Gln) rs1556004960
NM_006031.6(PCNT):c.9293G>T (p.Trp3098Leu) rs797045884
NM_006031.6(PCNT):c.931G>A (p.Ala311Thr) rs140196457
NM_006031.6(PCNT):c.9393+8C>T rs750108017
NM_006031.6(PCNT):c.9409C>G (p.Leu3137Val) rs1556007750
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.9820T>G (p.Ser3274Ala) rs144044246
NM_006031.6(PCNT):c.9886T>C (p.Ser3296Pro) rs752708321
NM_006031.6(PCNT):c.9959TAC[1] (p.Leu3321del) rs2148141560

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