ClinVar Miner

List of variants in gene PCNT reported as uncertain significance for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 569
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HGVS dbSNP gnomAD frequency
NM_006031.6(PCNT):c.9707G>A (p.Arg3236Gln) rs113591604 0.00249
NM_006031.6(PCNT):c.2033A>G (p.Lys678Arg) rs149623054 0.00088
NM_006031.6(PCNT):c.4675A>T (p.Met1559Leu) rs180775012 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.623G>A (p.Arg208His) rs142318247 0.00065
NM_006031.6(PCNT):c.7655G>A (p.Arg2552His) rs199589423 0.00063
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.2610-8T>C rs377164652 0.00047
NM_006031.6(PCNT):c.9594G>A (p.Thr3198=) rs143776463 0.00046
NM_006031.6(PCNT):c.2833C>T (p.Arg945Cys) rs147358856 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.3581C>T (p.Ala1194Val) rs138254119 0.00038
NM_006031.6(PCNT):c.7259C>T (p.Pro2420Leu) rs144633170 0.00038
NM_006031.6(PCNT):c.4109G>A (p.Arg1370Gln) rs145055342 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.4222C>T (p.Arg1408Trp) rs202161810 0.00029
NM_006031.6(PCNT):c.6195T>G (p.Asp2065Glu) rs148389745 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.3853C>T (p.Arg1285Cys) rs150564059 0.00026
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.5726C>T (p.Pro1909Leu) rs781468861 0.00022
NM_006031.6(PCNT):c.7345T>A (p.Trp2449Arg) rs199778396 0.00022
NM_006031.6(PCNT):c.2358A>G (p.Ile786Met) rs777841149 0.00021
NM_006031.6(PCNT):c.5680G>A (p.Val1894Ile) rs113208348 0.00020
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.2714A>G (p.Gln905Arg) rs112231246 0.00018
NM_006031.6(PCNT):c.2260G>T (p.Val754Phe) rs375312732 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.427C>T (p.Arg143Cys) rs201176638 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.7058C>G (p.Pro2353Arg) rs139978398 0.00016
NM_006031.6(PCNT):c.8401G>C (p.Val2801Leu) rs138868039 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.2458C>T (p.Arg820Cys) rs369586175 0.00014
NM_006031.6(PCNT):c.5603C>T (p.Ala1868Val) rs369038814 0.00014
NM_006031.6(PCNT):c.5705G>A (p.Arg1902His) rs201536644 0.00014
NM_006031.6(PCNT):c.6895G>A (p.Asp2299Asn) rs150156962 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.6977G>A (p.Ser2326Asn) rs201728927 0.00013
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.5704C>T (p.Arg1902Cys) rs752178247 0.00011
NM_006031.6(PCNT):c.9332G>A (p.Arg3111His) rs140416280 0.00011
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.6635G>A (p.Arg2212Gln) rs201503338 0.00010
NM_006031.6(PCNT):c.947A>T (p.Glu316Val) rs201194745 0.00010
NM_006031.6(PCNT):c.1490G>A (p.Arg497His) rs150365416 0.00009
NM_006031.6(PCNT):c.1828T>C (p.Ser610Pro) rs141582787 0.00009
NM_006031.6(PCNT):c.244G>A (p.Ala82Thr) rs143870030 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.4568C>T (p.Ala1523Val) rs138175397 0.00009
NM_006031.6(PCNT):c.5115G>A (p.Lys1705=) rs141860893 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.9099+8G>T rs369178196 0.00009
NM_006031.6(PCNT):c.9155A>G (p.Asn3052Ser) rs779546932 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.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.1876G>A (p.Val626Ile) rs201507947 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.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.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.405C>T (p.Val135=) rs371917839 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.6295C>T (p.Pro2099Ser) rs371054707 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.8564G>A (p.Arg2855Gln) rs568559091 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.3395G>A (p.Arg1132Gln) rs200148867 0.00005
NM_006031.6(PCNT):c.389A>G (p.His130Arg) rs57046460 0.00005
NM_006031.6(PCNT):c.4962+3G>A rs376215188 0.00005
NM_006031.6(PCNT):c.6922-4A>G rs587784317 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.1246A>G (p.Ile416Val) rs368199588 0.00004
NM_006031.6(PCNT):c.1281C>T (p.His427=) rs142413458 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.2872G>A (p.Gly958Ser) rs541135644 0.00004
NM_006031.6(PCNT):c.3313C>T (p.Leu1105=) rs1029955995 0.00004
NM_006031.6(PCNT):c.3611C>T (p.Pro1204Leu) rs749542536 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.484A>G (p.Ser162Gly) rs755909353 0.00004
NM_006031.6(PCNT):c.5647C>T (p.Arg1883Trp) rs746468689 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.6145G>A (p.Gly2049Ser) rs10222114 0.00004
NM_006031.6(PCNT):c.622C>T (p.Arg208Cys) rs147670433 0.00004
NM_006031.6(PCNT):c.6404C>T (p.Thr2135Met) rs145710874 0.00004
NM_006031.6(PCNT):c.685G>A (p.Gly229Ser) rs750556592 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.7871C>T (p.Ser2624Phe) rs199981467 0.00004
NM_006031.6(PCNT):c.8243C>T (p.Ala2748Val) rs569798532 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.9649C>G (p.Gln3217Glu) rs200431921 0.00004
NM_006031.6(PCNT):c.1032+6C>T rs367920438 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.2647A>G (p.Ser883Gly) rs771897801 0.00003
NM_006031.6(PCNT):c.3061C>T (p.Arg1021Trp) rs138361417 0.00003
NM_006031.6(PCNT):c.3469G>C (p.Ala1157Pro) rs778900170 0.00003
NM_006031.6(PCNT):c.5425C>G (p.Gln1809Glu) rs1225828617 0.00003
NM_006031.6(PCNT):c.5492C>T (p.Ala1831Val) rs761263896 0.00003
NM_006031.6(PCNT):c.6458A>G (p.Asn2153Ser) rs758705082 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.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.7424G>A (p.Arg2475Gln) rs149779006 0.00003
NM_006031.6(PCNT):c.8284C>T (p.Arg2762Trp) rs761885630 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.9304G>A (p.Glu3102Lys) rs775636867 0.00003
NM_006031.6(PCNT):c.1018G>A (p.Ala340Thr) rs775338231 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.2522G>A (p.Arg841Gln) rs545597119 0.00002
NM_006031.6(PCNT):c.2567T>G (p.Val856Gly) rs755388467 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.3557G>A (p.Arg1186His) rs751935483 0.00002
NM_006031.6(PCNT):c.3710A>G (p.His1237Arg) rs761299168 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.4351C>T (p.Arg1451Cys) rs200606073 0.00002
NM_006031.6(PCNT):c.545G>A (p.Arg182His) rs193268784 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.7316C>T (p.Thr2439Met) rs141561546 0.00002
NM_006031.6(PCNT):c.7465G>A (p.Glu2489Lys) rs148485670 0.00002
NM_006031.6(PCNT):c.7988G>A (p.Arg2663His) rs778334017 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.9307A>T (p.Thr3103Ser) rs762519501 0.00002
NM_006031.6(PCNT):c.9553G>A (p.Glu3185Lys) rs375163327 0.00002
NM_006031.6(PCNT):c.10007A>G (p.Gln3336Arg) rs794727685 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.1593G>A (p.Glu531=) rs767430243 0.00001
NM_006031.6(PCNT):c.1918T>G (p.Ser640Ala) rs560044100 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.2809A>C (p.Lys937Gln) rs577883327 0.00001
NM_006031.6(PCNT):c.2947C>T (p.Arg983Cys) rs776993806 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.3443T>C (p.Val1148Ala) rs762148129 0.00001
NM_006031.6(PCNT):c.3532A>G (p.Thr1178Ala) rs1389951479 0.00001
NM_006031.6(PCNT):c.3854G>A (p.Arg1285His) rs749730475 0.00001
NM_006031.6(PCNT):c.4264A>G (p.Arg1422Gly) rs752416084 0.00001
NM_006031.6(PCNT):c.4459G>A (p.Glu1487Lys) rs368525476 0.00001
NM_006031.6(PCNT):c.4535C>T (p.Pro1512Leu) rs916821322 0.00001
NM_006031.6(PCNT):c.4576G>A (p.Asp1526Asn) rs886042852 0.00001
NM_006031.6(PCNT):c.4642A>G (p.Ile1548Val) rs766280665 0.00001
NM_006031.6(PCNT):c.4684G>C (p.Glu1562Gln) rs981076771 0.00001
NM_006031.6(PCNT):c.4821G>T (p.Met1607Ile) rs147398973 0.00001
NM_006031.6(PCNT):c.4863T>G (p.Asp1621Glu) rs775246257 0.00001
NM_006031.6(PCNT):c.517A>G (p.Thr173Ala) rs535358423 0.00001
NM_006031.6(PCNT):c.5350C>T (p.Arg1784Cys) rs776352984 0.00001
NM_006031.6(PCNT):c.5432G>A (p.Arg1811His) rs769452431 0.00001
NM_006031.6(PCNT):c.5543A>G (p.Glu1848Gly) rs201943167 0.00001
NM_006031.6(PCNT):c.5606C>T (p.Thr1869Met) rs775982969 0.00001
NM_006031.6(PCNT):c.5636C>G (p.Ala1879Gly) rs1352792544 0.00001
NM_006031.6(PCNT):c.5737G>A (p.Gly1913Arg) rs776924524 0.00001
NM_006031.6(PCNT):c.5975C>T (p.Pro1992Leu) rs758977418 0.00001
NM_006031.6(PCNT):c.6044A>G (p.Lys2015Arg) rs1297236046 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.6983C>T (p.Pro2328Leu) rs747212974 0.00001
NM_006031.6(PCNT):c.7111A>G (p.Ile2371Val) rs770416863 0.00001
NM_006031.6(PCNT):c.7255G>A (p.Glu2419Lys) rs750214590 0.00001
NM_006031.6(PCNT):c.7528C>T (p.Arg2510Cys) rs146486696 0.00001
NM_006031.6(PCNT):c.7574G>A (p.Arg2525His) rs940897400 0.00001
NM_006031.6(PCNT):c.7966G>C (p.Glu2656Gln) rs981766239 0.00001
NM_006031.6(PCNT):c.8106T>A (p.Ser2702Arg) rs752649239 0.00001
NM_006031.6(PCNT):c.8679G>C (p.Arg2893Ser) rs748806254 0.00001
NM_006031.6(PCNT):c.874C>G (p.Leu292Val) rs762961416 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.8957C>T (p.Ala2986Val) rs201069257 0.00001
NM_006031.6(PCNT):c.8989G>A (p.Val2997Met) rs781469305 0.00001
NM_006031.6(PCNT):c.9212G>A (p.Arg3071Lys) rs1455899311 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
NC_000021.8:g.(?_47831083)_(47842058_?)dup
NC_000021.8:g.(?_47848289)_(47865240_?)dup
NM_006031.6(PCNT):c.1000T>A (p.Ser334Thr) rs772659788
NM_006031.6(PCNT):c.1169A>G (p.Glu390Gly)
NM_006031.6(PCNT):c.1180A>G (p.Ile394Val) rs2146590047
NM_006031.6(PCNT):c.1229G>A (p.Ser410Asn)
NM_006031.6(PCNT):c.1241C>T (p.Ala414Val) rs2084199246
NM_006031.6(PCNT):c.1259G>A (p.Arg420His)
NM_006031.6(PCNT):c.1393G>A (p.Glu465Lys) rs1555953206
NM_006031.6(PCNT):c.1447G>A (p.Glu483Lys)
NM_006031.6(PCNT):c.1480C>T (p.Arg494Cys)
NM_006031.6(PCNT):c.1481G>C (p.Arg494Pro)
NM_006031.6(PCNT):c.1538A>T (p.Glu513Val) rs2146654182
NM_006031.6(PCNT):c.1552C>A (p.Gln518Lys)
NM_006031.6(PCNT):c.1584G>C (p.Arg528Ser)
NM_006031.6(PCNT):c.1585G>C (p.Asp529His)
NM_006031.6(PCNT):c.1680G>A (p.Gly560=)
NM_006031.6(PCNT):c.1716A>T (p.Lys572Asn) rs138617654
NM_006031.6(PCNT):c.1727A>T (p.Asp576Val)
NM_006031.6(PCNT):c.1729C>T (p.His577Tyr)
NM_006031.6(PCNT):c.1762-14_1762-13insTAGT rs771981795
NM_006031.6(PCNT):c.1813C>G (p.Leu605Val) rs2084439675
NM_006031.6(PCNT):c.1900G>A (p.Glu634Lys)
NM_006031.6(PCNT):c.1971C>G (p.Asp657Glu) rs150892737
NM_006031.6(PCNT):c.1996C>T (p.Arg666Trp) rs774325418
NM_006031.6(PCNT):c.2056A>G (p.Thr686Ala)
NM_006031.6(PCNT):c.207T>G (p.Ile69Met)
NM_006031.6(PCNT):c.2108A>T (p.Tyr703Phe) rs572444748
NM_006031.6(PCNT):c.2119C>G (p.Gln707Glu) rs2084508666
NM_006031.6(PCNT):c.2132G>A (p.Arg711His)
NM_006031.6(PCNT):c.2167C>G (p.Leu723Val) rs483352730
NM_006031.6(PCNT):c.2207A>G (p.Gln736Arg)
NM_006031.6(PCNT):c.2273A>G (p.Glu758Gly)
NM_006031.6(PCNT):c.2451G>T (p.Gln817His) rs771463564
NM_006031.6(PCNT):c.247G>C (p.Gly83Arg) rs886042361
NM_006031.6(PCNT):c.2488T>A (p.Ser830Thr) rs1268691558
NM_006031.6(PCNT):c.24G>C (p.Arg8=) rs375279759
NM_006031.6(PCNT):c.2516G>T (p.Cys839Phe) rs1189857776
NM_006031.6(PCNT):c.2521C>T (p.Arg841Trp)
NM_006031.6(PCNT):c.2556_2559delinsCTTT (p.Ala853Phe) rs2146858439
NM_006031.6(PCNT):c.2597T>A (p.Leu866Gln)
NM_006031.6(PCNT):c.2603G>A (p.Arg868Gln)
NM_006031.6(PCNT):c.2609+4G>A
NM_006031.6(PCNT):c.2615T>C (p.Leu872Ser) rs2084937959
NM_006031.6(PCNT):c.262G>A (p.Ala88Thr) rs768342760
NM_006031.6(PCNT):c.2638G>A (p.Glu880Lys)
NM_006031.6(PCNT):c.2661T>A (p.Asp887Glu)
NM_006031.6(PCNT):c.2663C>T (p.Ala888Val)
NM_006031.6(PCNT):c.2695C>T (p.Arg899Cys)
NM_006031.6(PCNT):c.2716G>A (p.Glu906Lys) rs2146921088
NM_006031.6(PCNT):c.2750C>T (p.Ala917Val) rs763541418
NM_006031.6(PCNT):c.2782G>C (p.Gly928Arg)
NM_006031.6(PCNT):c.2785G>A (p.Glu929Lys)
NM_006031.6(PCNT):c.2834G>A (p.Arg945His) rs183691508
NM_006031.6(PCNT):c.2852C>A (p.Thr951Lys)
NM_006031.6(PCNT):c.2881G>C (p.Glu961Gln)
NM_006031.6(PCNT):c.2945T>C (p.Ile982Thr)
NM_006031.6(PCNT):c.2964G>T (p.Gln988His)
NM_006031.6(PCNT):c.298G>A (p.Asp100Asn)
NM_006031.6(PCNT):c.3064A>G (p.Lys1022Glu)
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.3091C>G (p.Arg1031Gly) rs766301934
NM_006031.6(PCNT):c.3104G>A (p.Arg1035Gln)
NM_006031.6(PCNT):c.3118A>G (p.Thr1040Ala)
NM_006031.6(PCNT):c.3133A>G (p.Thr1045Ala) rs1251042241
NM_006031.6(PCNT):c.3157G>A (p.Val1053Met) rs2146927861
NM_006031.6(PCNT):c.3175G>A (p.Gly1059Arg)
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.3336A>C (p.Leu1112Phe)
NM_006031.6(PCNT):c.3339T>G (p.Ser1113Arg) rs61735805
NM_006031.6(PCNT):c.3340C>T (p.His1114Tyr)
NM_006031.6(PCNT):c.3358C>T (p.Arg1120Cys) rs375135272
NM_006031.6(PCNT):c.335A>G (p.His112Arg)
NM_006031.6(PCNT):c.3367_3372del (p.Leu1123_Glu1124del)
NM_006031.6(PCNT):c.3428T>C (p.Met1143Thr) rs746010044
NM_006031.6(PCNT):c.3441C>T (p.Asp1147=) rs201652457
NM_006031.6(PCNT):c.3442G>A (p.Val1148Ile)
NM_006031.6(PCNT):c.3463A>C (p.Arg1155=) rs775021770
NM_006031.6(PCNT):c.3464+4A>T rs1555971930
NM_006031.6(PCNT):c.3478G>C (p.Asp1160His)
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.3544C>T (p.Arg1182Trp)
NM_006031.6(PCNT):c.3550G>A (p.Gly1184Arg) rs752738005
NM_006031.6(PCNT):c.3586G>A (p.Ala1196Thr)
NM_006031.6(PCNT):c.3608-20G>A
NM_006031.6(PCNT):c.3617T>G (p.Leu1206Arg) rs1430261995
NM_006031.6(PCNT):c.362C>T (p.Thr121Ile)
NM_006031.6(PCNT):c.3740A>G (p.Glu1247Gly) rs779953366
NM_006031.6(PCNT):c.3813G>A (p.Met1271Ile)
NM_006031.6(PCNT):c.3851C>T (p.Ala1284Val)
NM_006031.6(PCNT):c.3857A>G (p.Gln1286Arg) rs2086002722
NM_006031.6(PCNT):c.3897T>A (p.Asn1299Lys) rs1601936257
NM_006031.6(PCNT):c.3971C>T (p.Ala1324Val) rs2147300447
NM_006031.6(PCNT):c.397T>A (p.Phe133Ile)
NM_006031.6(PCNT):c.4004-14T>G
NM_006031.6(PCNT):c.403G>A (p.Val135Ile)
NM_006031.6(PCNT):c.4045G>A (p.Glu1349Lys) rs2147306221
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.4132G>A (p.Glu1378Lys)
NM_006031.6(PCNT):c.4177G>A (p.Gly1393Arg) rs753662756
NM_006031.6(PCNT):c.419C>T (p.Pro140Leu)
NM_006031.6(PCNT):c.4250A>G (p.Glu1417Gly)
NM_006031.6(PCNT):c.4276G>A (p.Glu1426Lys)
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.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.4352G>A (p.Arg1451His)
NM_006031.6(PCNT):c.4436A>C (p.Gln1479Pro)
NM_006031.6(PCNT):c.4441A>G (p.Met1481Val)
NM_006031.6(PCNT):c.444_445insTGTGACCACCCACCAGAACAGCATGGGATGTTCACAGTCAGTGACCACCCACCGGAACAGCGTGGGATGTTCACAGTCGGTGACCACCCACCAGAACAGCGTGGGATGTTCACAGTC (p.Val148_Ser149insCysAspHisProProGluGlnHisGlyMetPheThrValSerAspHisProProGluGlnArgGlyMetPheThrValGlyAspHisProProGluGlnArgGlyMetPheThrVal)
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.4484T>C (p.Phe1495Ser)
NM_006031.6(PCNT):c.4498C>A (p.Gln1500Lys)
NM_006031.6(PCNT):c.451_452insTGGGATGTTCACAGTCAGTGACCACCCACCAGAACAGCA (p.His151delinsLeuGlyCysSerGlnSerValThrThrHisGlnAsnSerAsn) rs2146360015
NM_006031.6(PCNT):c.4571C>T (p.Pro1524Leu) rs35513449
NM_006031.6(PCNT):c.4597C>A (p.Gln1533Lys)
NM_006031.6(PCNT):c.459_536del (p.His156_Gln181del)
NM_006031.6(PCNT):c.466_467insTGGGATGTTCACAGTCAGTGACCACCCACCAGAACAGCGTGGGATGTTCACAATCAGTGACCACCAACCGGAACAGCG (p.His156delinsLeuGlyCysSerGlnSerValThrThrHisGlnAsnSerValGlyCysSerGlnSerValThrThrAsnArgAsnSerAsp)
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.468T>A (p.His156Gln) rs1333048694
NM_006031.6(PCNT):c.469G>A (p.Gly157Arg) rs1555945637
NM_006031.6(PCNT):c.4731A>T (p.Lys1577Asn)
NM_006031.6(PCNT):c.4791+5A>G
NM_006031.6(PCNT):c.4810A>G (p.Lys1604Glu)
NM_006031.6(PCNT):c.481_519dup (p.Val161_Thr173dup) rs886042352
NM_006031.6(PCNT):c.483_484insGGTGACCACCCACCAGAACAGCGTGGGATGTTCACAGTC (p.Val161_Ser162insGlyAspHisProProGluGlnArgGlyMetPheThrVal) rs2146360513
NM_006031.6(PCNT):c.4882C>T (p.Pro1628Ser)
NM_006031.6(PCNT):c.5038A>T (p.Asn1680Tyr) rs2147504560
NM_006031.6(PCNT):c.505_506insATGGGATGTTCACAGTCAGTGACCACCCACCAGAACAGCGTGGGATGTTCACAGTCAGTGACCACCCACCGGAACAGC (p.Gln168_Arg169insHisGlyMetPheThrValSerAspHisProProGluGlnArgGlyMetPheThrValSerAspHisProProGluGln) rs1569163275
NM_006031.6(PCNT):c.5074G>A (p.Val1692Ile) rs113342730
NM_006031.6(PCNT):c.509G>C (p.Gly170Ala) rs761232554
NM_006031.6(PCNT):c.5116-3C>T
NM_006031.6(PCNT):c.5147A>C (p.Glu1716Ala)
NM_006031.6(PCNT):c.5167A>G (p.Asn1723Asp)
NM_006031.6(PCNT):c.5177A>G (p.Glu1726Gly) rs1555984919
NM_006031.6(PCNT):c.5189G>A (p.Arg1730Gln)
NM_006031.6(PCNT):c.5192T>C (p.Leu1731Ser)
NM_006031.6(PCNT):c.5330G>C (p.Cys1777Ser)
NM_006031.6(PCNT):c.536C>T (p.Pro179Leu)
NM_006031.6(PCNT):c.5371G>A (p.Glu1791Lys)
NM_006031.6(PCNT):c.5392G>A (p.Ala1798Thr) rs1484070171
NM_006031.6(PCNT):c.5410C>T (p.Arg1804Trp)
NM_006031.6(PCNT):c.5424_5510del (p.Asp1808_Ala1836del)
NM_006031.6(PCNT):c.5431C>A (p.Arg1811Ser)
NM_006031.6(PCNT):c.5479G>A (p.Ala1827Thr)
NM_006031.6(PCNT):c.5479G>T (p.Ala1827Ser)
NM_006031.6(PCNT):c.550A>G (p.Met184Val)
NM_006031.6(PCNT):c.5518C>T (p.Arg1840Cys)
NM_006031.6(PCNT):c.5519G>A (p.Arg1840His) rs200559632
NM_006031.6(PCNT):c.5548G>A (p.Glu1850Lys)
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.5578G>A (p.Glu1860Lys) rs369195346
NM_006031.6(PCNT):c.559_636del (p.Val187_Thr212del)
NM_006031.6(PCNT):c.5612_5629del (p.Ala1871_Ile1877delinsVal)
NM_006031.6(PCNT):c.5627A>T (p.Glu1876Val)
NM_006031.6(PCNT):c.5632G>A (p.Asp1878Asn)
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.5668G>C (p.Glu1890Gln)
NM_006031.6(PCNT):c.5698C>G (p.Arg1900Gly)
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.5720A>G (p.Gln1907Arg)
NM_006031.6(PCNT):c.5768G>A (p.Arg1923Gln)
NM_006031.6(PCNT):c.5810_5811inv (p.His1937Arg)
NM_006031.6(PCNT):c.5819T>C (p.Phe1940Ser) rs1460538855
NM_006031.6(PCNT):c.583C>T (p.Arg195Cys) rs199564971
NM_006031.6(PCNT):c.5879_5902del (p.Arg1960_Gln1967del)
NM_006031.6(PCNT):c.5890G>A (p.Ala1964Thr)
NM_006031.6(PCNT):c.591_629del (p.Ile197_Gly209del) rs761716576
NM_006031.6(PCNT):c.5979_5981dup (p.Val1994dup) rs2147680118
NM_006031.6(PCNT):c.5995-12_5995-4del rs759946797
NM_006031.6(PCNT):c.6055G>A (p.Val2019Met)
NM_006031.6(PCNT):c.6064G>A (p.Val2022Met) rs2147696428
NM_006031.6(PCNT):c.6073G>A (p.Val2025Ile)
NM_006031.6(PCNT):c.6077G>A (p.Cys2026Tyr) rs2147696688
NM_006031.6(PCNT):c.6095C>T (p.Ser2032Leu)
NM_006031.6(PCNT):c.6142G>A (p.Gly2048Ser)
NM_006031.6(PCNT):c.6150+10_6150+11insCGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAG
NM_006031.6(PCNT):c.6150+48_6150+49insTGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACAAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACAAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCGCGAGGTCCCCCCGGGAGAGGCTGGACA
NM_006031.6(PCNT):c.6150+48_6150+49insTGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACAAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCGCGAGGTCCCCCCGGGAGAGGCTGGACA
NM_006031.6(PCNT):c.6193G>A (p.Asp2065Asn)
NM_006031.6(PCNT):c.6203C>G (p.Ala2068Gly) rs2147769466
NM_006031.6(PCNT):c.6205C>G (p.Gln2069Glu)
NM_006031.6(PCNT):c.6235C>T (p.Arg2079Cys)
NM_006031.6(PCNT):c.6250A>G (p.Met2084Val)
NM_006031.6(PCNT):c.6258C>G (p.Phe2086Leu)
NM_006031.6(PCNT):c.6262A>C (p.Asn2088His)
NM_006031.6(PCNT):c.6341C>G (p.Ser2114Cys)
NM_006031.6(PCNT):c.6344G>C (p.Cys2115Ser)
NM_006031.6(PCNT):c.6353A>G (p.Glu2118Gly) rs1602028010
NM_006031.6(PCNT):c.6379G>A (p.Asp2127Asn)
NM_006031.6(PCNT):c.6383_6384insGTGTGATGCCAATACAGCCACGGGGGGTGTAACTGATGTTATCAAAAATCAGGCCATAGACGC (p.Thr2154_Thr2155insAlaThrGlyGlyValThrAspValIleLysAsnGlnAlaIleAspAlaCysAspAlaAsnThr)
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.6433_6495del (p.Gln2145_Asn2165del)
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.6559G>T (p.Asp2187Tyr)
NM_006031.6(PCNT):c.6578_6579delinsGA (p.Pro2193Arg)
NM_006031.6(PCNT):c.6601C>T (p.Arg2201Cys)
NM_006031.6(PCNT):c.6643C>G (p.Pro2215Ala)
NM_006031.6(PCNT):c.671C>G (p.Thr224Ser)
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.6769G>A (p.Asp2257Asn)
NM_006031.6(PCNT):c.6770A>G (p.Asp2257Gly)
NM_006031.6(PCNT):c.6782G>A (p.Gly2261Glu)
NM_006031.6(PCNT):c.6799T>C (p.Ser2267Pro)
NM_006031.6(PCNT):c.6810G>C (p.Gln2270His)
NM_006031.6(PCNT):c.6856G>A (p.Ala2286Thr)
NM_006031.6(PCNT):c.6890C>T (p.Ala2297Val)
NM_006031.6(PCNT):c.6914C>A (p.Thr2305Lys)
NM_006031.6(PCNT):c.6914C>T (p.Thr2305Met) rs770226991
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.6935A>C (p.Glu2312Ala) rs2147796645
NM_006031.6(PCNT):c.7016G>A (p.Ser2339Asn) rs1306140699
NM_006031.6(PCNT):c.7034C>T (p.Ser2345Leu)
NM_006031.6(PCNT):c.7066G>C (p.Gly2356Arg)
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.7174G>A (p.Val2392Met)
NM_006031.6(PCNT):c.7204G>A (p.Glu2402Lys)
NM_006031.6(PCNT):c.7246C>A (p.Pro2416Thr)
NM_006031.6(PCNT):c.7460T>G (p.Leu2487Arg)
NM_006031.6(PCNT):c.7464C>G (p.Leu2488=) rs572321857
NM_006031.6(PCNT):c.7477A>G (p.Lys2493Glu) rs2087570845
NM_006031.6(PCNT):c.7482C>G (p.Ile2494Met)
NM_006031.6(PCNT):c.7540C>T (p.Arg2514Trp)
NM_006031.6(PCNT):c.7562T>C (p.Ile2521Thr) rs1415348820
NM_006031.6(PCNT):c.7567G>A (p.Ala2523Thr)
NM_006031.6(PCNT):c.764G>A (p.Ser255Asn)
NM_006031.6(PCNT):c.7657G>C (p.Gly2553Arg) rs772478708
NM_006031.6(PCNT):c.767A>G (p.Asn256Ser) rs559025459
NM_006031.6(PCNT):c.7682G>T (p.Arg2561Leu)
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.7772A>G (p.Lys2591Arg)
NM_006031.6(PCNT):c.7800_7801inv (p.Ala2601Pro)
NM_006031.6(PCNT):c.7883G>T (p.Cys2628Phe)
NM_006031.6(PCNT):c.7903C>T (p.Leu2635Phe) rs372068143
NM_006031.6(PCNT):c.7925G>A (p.Ser2642Asn)
NM_006031.6(PCNT):c.7977G>T (p.Gln2659His) rs2070426
NM_006031.6(PCNT):c.8023C>G (p.Arg2675Gly)
NM_006031.6(PCNT):c.8023C>T (p.Arg2675Trp)
NM_006031.6(PCNT):c.8071C>T (p.Arg2691Trp) rs112087468
NM_006031.6(PCNT):c.8075C>T (p.Ala2692Val)
NM_006031.6(PCNT):c.8168G>A (p.Arg2723His)
NM_006031.6(PCNT):c.8182C>T (p.Arg2728Cys)
NM_006031.6(PCNT):c.8201C>T (p.Ala2734Val)
NM_006031.6(PCNT):c.8231A>T (p.Gln2744Leu)
NM_006031.6(PCNT):c.8260A>G (p.Thr2754Ala)
NM_006031.6(PCNT):c.8285G>A (p.Arg2762Gln)
NM_006031.6(PCNT):c.8350A>G (p.Thr2784Ala)
NM_006031.6(PCNT):c.8386GAG[1] (p.Glu2797del) rs760927489
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.8422C>A (p.Leu2808Ile)
NM_006031.6(PCNT):c.8434C>G (p.Gln2812Glu)
NM_006031.6(PCNT):c.8453C>A (p.Ser2818Tyr) rs200878443
NM_006031.6(PCNT):c.8578T>C (p.Ser2860Pro) rs2147987435
NM_006031.6(PCNT):c.8591A>G (p.Glu2864Gly)
NM_006031.6(PCNT):c.8622A>C (p.Glu2874Asp) rs774517427
NM_006031.6(PCNT):c.8711C>T (p.Ala2904Val) rs2087795393
NM_006031.6(PCNT):c.8792T>C (p.Ile2931Thr)
NM_006031.6(PCNT):c.8813T>C (p.Val2938Ala)
NM_006031.6(PCNT):c.8830_8832del (p.Lys2944del) rs562568796
NM_006031.6(PCNT):c.8834A>G (p.Asp2945Gly)
NM_006031.6(PCNT):c.8851C>T (p.Arg2951Cys)
NM_006031.6(PCNT):c.8852G>A (p.Arg2951His)
NM_006031.6(PCNT):c.8872C>T (p.Arg2958Cys)
NM_006031.6(PCNT):c.8889G>A (p.Ser2963=) rs151325202
NM_006031.6(PCNT):c.8905C>T (p.Arg2969Trp) rs201154205
NM_006031.6(PCNT):c.8939A>G (p.Gln2980Arg)
NM_006031.6(PCNT):c.8941C>T (p.Arg2981Trp)
NM_006031.6(PCNT):c.8956G>A (p.Ala2986Thr) rs201877661
NM_006031.6(PCNT):c.8960G>A (p.Arg2987Gln)
NM_006031.6(PCNT):c.9041C>G (p.Ser3014Cys)
NM_006031.6(PCNT):c.9041C>T (p.Ser3014Phe)
NM_006031.6(PCNT):c.9133G>T (p.Val3045Leu) rs925637422
NM_006031.6(PCNT):c.9146T>C (p.Leu3049Pro) rs794727667
NM_006031.6(PCNT):c.9179G>A (p.Ser3060Asn)
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.9278C>G (p.Ser3093Trp) rs374857206
NM_006031.6(PCNT):c.9278C>T (p.Ser3093Leu) rs374857206
NM_006031.6(PCNT):c.930C>G (p.His310Gln)
NM_006031.6(PCNT):c.9347G>A (p.Arg3116Gln)
NM_006031.6(PCNT):c.948G>C (p.Glu316Asp) rs369860393
NM_006031.6(PCNT):c.9517A>G (p.Met3173Val)
NM_006031.6(PCNT):c.9554A>G (p.Glu3185Gly)
NM_006031.6(PCNT):c.9556C>T (p.Arg3186Trp)
NM_006031.6(PCNT):c.9569C>A (p.Ser3190Tyr)
NM_006031.6(PCNT):c.9710C>A (p.Ala3237Glu)
NM_006031.6(PCNT):c.9751C>T (p.Pro3251Ser) rs201526605
NM_006031.6(PCNT):c.9752dup (p.Thr3252fs)
NM_006031.6(PCNT):c.9758G>C (p.Arg3253Pro) rs559836256
NM_006031.6(PCNT):c.9799C>T (p.Arg3267Cys)
NM_006031.6(PCNT):c.9820T>A (p.Ser3274Thr)
NM_006031.6(PCNT):c.9838A>G (p.Arg3280Gly) rs2148130857
NM_006031.6(PCNT):c.9839+6T>C
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.9980del (p.Lys3327fs)
NM_006031.6(PCNT):c.9994C>G (p.Pro3332Ala)

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