ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy, 12 by Labcorp Genetics (formerly Invitae), Labcorp

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ClinVar version:
Total variants: 1696
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HGVS dbSNP gnomAD frequency
NM_015192.4(PLCB1):c.3188+8C>T rs2327089 0.89617
NM_015192.4(PLCB1):c.2988T>C (p.Ala996=) rs2235613 0.62539
NM_015192.4(PLCB1):c.1167+16G>A rs2295179 0.57134
NM_015192.4(PLCB1):c.3337C>T (p.Leu1113=) rs2294597 0.24864
NM_015192.4(PLCB1):c.2565G>A (p.Ala855=) rs2076413 0.24634
NM_015192.4(PLCB1):c.102C>T (p.Asp34=) rs16994453 0.18027
NM_015192.4(PLCB1):c.1251-4T>G rs2076689 0.09450
NM_015192.4(PLCB1):c.2082G>A (p.Gly694=) rs3761170 0.05661
NM_015192.4(PLCB1):c.99+8T>C rs6086350 0.04369
NM_015192.4(PLCB1):c.3202T>C (p.Leu1068=) rs41275588 0.03299
NM_007254.4(PNKP):c.1189-10del rs3739205 0.02593
NM_015192.4(PLCB1):c.1581+15C>T rs79284104 0.02283
NM_015192.4(PLCB1):c.924A>G (p.Ser308=) rs6056003 0.01487
NM_015192.4(PLCB1):c.2199G>A (p.Val733=) rs8118206 0.01438
NM_015192.4(PLCB1):c.178-15G>A rs6055775 0.01196
NM_007254.4(PNKP):c.586T>A (p.Tyr196Asn) rs3739186 0.01081
NM_015192.4(PLCB1):c.2191C>G (p.Pro731Ala) rs61755434 0.00997
NM_007254.4(PNKP):c.58C>T (p.Pro20Ser) rs3739168 0.00946
NM_015192.4(PLCB1):c.2413+9C>T rs138442805 0.00934
NM_007254.4(PNKP):c.1127-8C>T rs3739203 0.00901
NM_015192.4(PLCB1):c.2967G>A (p.Thr989=) rs45464693 0.00730
NM_015192.4(PLCB1):c.458A>T (p.Glu153Val) rs45496299 0.00721
NM_015192.4(PLCB1):c.2309-15A>C rs117816042 0.00563
NM_015192.4(PLCB1):c.1167+7T>C rs45466294 0.00492
NM_007254.4(PNKP):c.1032G>A (p.Arg344=) rs185452809 0.00406
NM_015192.4(PLCB1):c.1469A>G (p.Tyr490Cys) rs45608240 0.00391
NM_015192.4(PLCB1):c.1679-17G>A rs139542242 0.00372
NM_015192.4(PLCB1):c.582T>C (p.Leu194=) rs150770296 0.00354
NM_007254.4(PNKP):c.783G>A (p.Pro261=) rs145307985 0.00353
NM_007254.4(PNKP):c.939T>C (p.Phe313=) rs149731642 0.00290
NM_007254.4(PNKP):c.1522G>A (p.Glu508Lys) rs146478958 0.00280
NM_015192.4(PLCB1):c.1336-18G>A rs140846963 0.00274
NM_015192.4(PLCB1):c.3550C>T (p.Leu1184Phe) rs28390202 0.00270
NM_015192.4(PLCB1):c.2673T>G (p.Pro891=) rs142813933 0.00260
NM_015192.4(PLCB1):c.3116T>C (p.Ile1039Thr) rs75820839 0.00251
NM_007254.4(PNKP):c.1497G>A (p.Leu499=) rs142199280 0.00232
NM_015192.4(PLCB1):c.2930+20T>G rs45533233 0.00214
NM_015192.4(PLCB1):c.3120A>G (p.Gln1040=) rs61755436 0.00213
NM_007254.4(PNKP):c.579G>A (p.Arg193=) rs145904995 0.00205
NM_007254.4(PNKP):c.416G>A (p.Arg139His) rs34472250 0.00185
NM_007254.4(PNKP):c.1433T>G (p.Val478Gly) rs3739206 0.00181
NM_015192.4(PLCB1):c.2711-18C>T rs186797959 0.00181
NM_007254.4(PNKP):c.636+7G>A rs3739187 0.00154
NM_015192.4(PLCB1):c.2550G>T (p.Glu850Asp) rs141433824 0.00137
NM_007254.4(PNKP):c.1491C>T (p.Ala497=) rs116192442 0.00133
NM_015192.4(PLCB1):c.1678+10C>T rs369652433 0.00131
NM_007254.4(PNKP):c.831G>A (p.Thr277=) rs148491228 0.00128
NM_015192.4(PLCB1):c.1336-13T>C rs185405599 0.00126
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00115
NM_007254.4(PNKP):c.650C>G (p.Thr217Ser) rs115259839 0.00112
NM_015192.4(PLCB1):c.1491C>T (p.Phe497=) rs145869401 0.00110
NM_015192.4(PLCB1):c.1230G>A (p.Ser410=) rs148848282 0.00103
NM_015192.4(PLCB1):c.1888+11G>A rs150219357 0.00100
NM_015192.4(PLCB1):c.246+12A>G rs200984500 0.00073
NM_007254.4(PNKP):c.501G>A (p.Val167=) rs142143566 0.00071
NM_007254.4(PNKP):c.1299-6C>T rs112635688 0.00067
NM_015192.4(PLCB1):c.2841A>G (p.Glu947=) rs35245209 0.00067
NM_015192.4(PLCB1):c.1881G>A (p.Gln627=) rs45492700 0.00065
NM_007254.4(PNKP):c.901C>T (p.Arg301Trp) rs201503405 0.00061
NM_007254.4(PNKP):c.816+20C>T rs372038893 0.00059
NM_007254.4(PNKP):c.1557C>T (p.Ser519=) rs142180374 0.00051
NM_015192.4(PLCB1):c.3039G>A (p.Gln1013=) rs139859188 0.00049
NM_007254.4(PNKP):c.188C>T (p.Ala63Val) rs3739173 0.00047
NM_007254.4(PNKP):c.519C>T (p.Asp173=) rs144284975 0.00047
NM_007254.4(PNKP):c.672C>T (p.Arg224=) rs151180981 0.00046
NM_015192.4(PLCB1):c.627A>G (p.Pro209=) rs151006778 0.00046
NM_007254.4(PNKP):c.627G>A (p.Glu209=) rs532550120 0.00040
NM_007254.4(PNKP):c.893C>T (p.Ala298Val) rs145615734 0.00037
NM_015192.4(PLCB1):c.1526C>T (p.Thr509Met) rs150686631 0.00034
NM_007254.4(PNKP):c.308C>T (p.Thr103Ile) rs115419706 0.00033
NM_007254.4(PNKP):c.587A>G (p.Tyr196Cys) rs138931842 0.00033
NM_007254.4(PNKP):c.876A>G (p.Gly292=) rs3739199 0.00033
NM_015192.4(PLCB1):c.3643C>T (p.Pro1215Ser) rs138077430 0.00032
NM_007254.4(PNKP):c.1386+41_1386+42del rs765720389 0.00030
NM_015192.4(PLCB1):c.2570C>T (p.Thr857Met) rs184436336 0.00030
NM_007254.4(PNKP):c.498+11C>T rs371375970 0.00027
NM_015192.4(PLCB1):c.3607C>T (p.Leu1203=) rs150804955 0.00026
NM_007254.4(PNKP):c.671G>A (p.Arg224His) rs199705876 0.00025
NM_015192.4(PLCB1):c.2907C>T (p.Ser969=) rs368328261 0.00025
NM_015192.4(PLCB1):c.2474A>G (p.Lys825Arg) rs146646749 0.00023
NM_015192.4(PLCB1):c.696-18G>T rs371748595 0.00023
NM_015192.4(PLCB1):c.714A>C (p.Pro238=) rs147567110 0.00023
NM_007254.4(PNKP):c.678G>A (p.Lys226=) rs141969535 0.00021
NM_007254.4(PNKP):c.1387-37A>T rs530790386 0.00020
NM_007254.4(PNKP):c.1281C>T (p.Asp427=) rs770775129 0.00019
NM_007254.4(PNKP):c.1549C>T (p.Gln517Ter) rs774995635 0.00019
NM_007254.4(PNKP):c.198+9G>A rs370222304 0.00019
NM_007254.4(PNKP):c.290A>G (p.Asn97Ser) rs140290151 0.00019
NM_007254.4(PNKP):c.1298+14G>A rs559532107 0.00018
NM_015192.4(PLCB1):c.1433G>T (p.Gly478Val) rs146833633 0.00017
NM_015192.4(PLCB1):c.3347C>T (p.Ala1116Val) rs148936543 0.00017
NM_007254.4(PNKP):c.1413T>C (p.His471=) rs370017666 0.00016
NM_015192.4(PLCB1):c.1250+17T>A rs776777689 0.00016
NM_015192.4(PLCB1):c.1489T>G (p.Phe497Val) rs752634021 0.00016
NM_015192.4(PLCB1):c.3584A>G (p.His1195Arg) rs186429469 0.00016
NM_007254.4(PNKP):c.1412A>T (p.His471Leu) rs142032281 0.00015
NM_007254.4(PNKP):c.179G>A (p.Arg60Gln) rs374743798 0.00015
NM_015192.4(PLCB1):c.3569C>G (p.Pro1190Arg) rs200781362 0.00015
NM_007254.4(PNKP):c.106G>A (p.Gly36Arg) rs949517384 0.00014
NM_007254.4(PNKP):c.1448+13A>G rs748882543 0.00014
NM_015192.4(PLCB1):c.116C>T (p.Thr39Ile) rs751520312 0.00014
NM_015192.4(PLCB1):c.639A>C (p.Arg213Ser) rs140899287 0.00014
NM_007254.4(PNKP):c.1257C>T (p.Val419=) rs369003964 0.00013
NM_007254.4(PNKP):c.1298+2_1298+5dup rs776617733 0.00013
NM_007254.4(PNKP):c.19C>T (p.Pro7Ser) rs201221600 0.00013
NM_007254.4(PNKP):c.730G>C (p.Gly244Arg) rs562480894 0.00013
NM_015192.4(PLCB1):c.2088C>T (p.Tyr696=) rs189186909 0.00013
NM_015192.4(PLCB1):c.2308+11dup rs753502275 0.00013
NM_015192.4(PLCB1):c.724G>A (p.Val242Ile) rs200567140 0.00013
NM_007254.4(PNKP):c.1211G>A (p.Arg404His) rs549069697 0.00012
NM_015192.4(PLCB1):c.1761A>G (p.Val587=) rs143755415 0.00012
NM_015192.4(PLCB1):c.2354C>T (p.Thr785Met) rs202199288 0.00012
NM_015192.4(PLCB1):c.28G>T (p.Ala10Ser) rs150241349 0.00012
NM_007254.4(PNKP):c.579-4G>A rs371834726 0.00011
NM_007254.4(PNKP):c.816+14C>T rs376371644 0.00011
NM_015192.4(PLCB1):c.1539C>T (p.Asp513=) rs199565459 0.00011
NM_015192.4(PLCB1):c.2868G>A (p.Gln956=) rs149312175 0.00011
NM_007254.4(PNKP):c.1298+6G>A rs578207030 0.00010
NM_007254.4(PNKP):c.885C>T (p.Ala295=) rs763725051 0.00010
NM_007254.4(PNKP):c.936+16C>G rs369723968 0.00010
NM_007254.4(PNKP):c.994C>T (p.Pro332Ser) rs373922574 0.00010
NM_015192.4(PLCB1):c.2588G>C (p.Gly863Ala) rs148288081 0.00010
NM_015192.4(PLCB1):c.3129G>T (p.Thr1043=) rs141102170 0.00010
NM_007254.4(PNKP):c.109C>T (p.Pro37Ser) rs536541839 0.00009
NM_007254.4(PNKP):c.151+11C>T rs587781113 0.00009
NM_007254.4(PNKP):c.151+18T>G rs55756709 0.00009
NM_007254.4(PNKP):c.579-18G>A rs199541652 0.00009
NM_007254.4(PNKP):c.822C>T (p.Asn274=) rs780677866 0.00009
NM_007254.4(PNKP):c.883G>A (p.Ala295Thr) rs368887106 0.00008
NM_015192.4(PLCB1):c.100-17T>C rs370810694 0.00008
NM_015192.4(PLCB1):c.2127G>A (p.Arg709=) rs3761169 0.00008
NM_015192.4(PLCB1):c.3590C>T (p.Thr1197Ile) rs190019296 0.00008
NM_015192.4(PLCB1):c.3606G>C (p.Glu1202Asp) rs200558916 0.00008
NM_007254.4(PNKP):c.1008C>T (p.Phe336=) rs1474446608 0.00007
NM_007254.4(PNKP):c.1298+19C>T rs541129252 0.00007
NM_007254.4(PNKP):c.1441G>A (p.Gly481Ser) rs146941866 0.00007
NM_007254.4(PNKP):c.1515A>G (p.Leu505=) rs369748873 0.00007
NM_007254.4(PNKP):c.670C>T (p.Arg224Cys) rs761117623 0.00007
NM_015192.4(PLCB1):c.1275G>A (p.Ala425=) rs143366963 0.00007
NM_015192.4(PLCB1):c.178-16C>T rs758638401 0.00007
NM_015192.4(PLCB1):c.2209-19T>C rs765382131 0.00007
NM_015192.4(PLCB1):c.232G>A (p.Ala78Thr) rs761393253 0.00007
NM_015192.4(PLCB1):c.3189-14C>T rs777913912 0.00007
NM_015192.4(PLCB1):c.738G>A (p.Met246Ile) rs375123870 0.00007
NM_007254.4(PNKP):c.1003G>A (p.Gly335Ser) rs768567927 0.00006
NM_007254.4(PNKP):c.1009G>C (p.Glu337Gln) rs780121125 0.00006
NM_007254.4(PNKP):c.1062C>T (p.Leu354=) rs142830558 0.00006
NM_007254.4(PNKP):c.1098G>A (p.Glu366=) rs755340060 0.00006
NM_007254.4(PNKP):c.1186A>G (p.Arg396Gly) rs563918674 0.00006
NM_007254.4(PNKP):c.1387-11G>A rs200785744 0.00006
NM_007254.4(PNKP):c.1397T>C (p.Met466Thr) rs145886749 0.00006
NM_007254.4(PNKP):c.1443C>G (p.Gly481=) rs376213146 0.00006
NM_007254.4(PNKP):c.1492A>C (p.Ile498Leu) rs753116883 0.00006
NM_007254.4(PNKP):c.335C>G (p.Pro112Arg) rs567905136 0.00006
NM_007254.4(PNKP):c.407C>T (p.Pro136Leu) rs11555414 0.00006
NM_007254.4(PNKP):c.456G>A (p.Lys152=) rs752339576 0.00006
NM_007254.4(PNKP):c.817-20C>G rs201778535 0.00006
NM_015192.4(PLCB1):c.1167+14A>G rs563791103 0.00006
NM_015192.4(PLCB1):c.1188G>A (p.Ala396=) rs202109404 0.00006
NM_015192.4(PLCB1):c.1888+9A>C rs371050904 0.00006
NM_015192.4(PLCB1):c.2028C>T (p.Asn676=) rs142083540 0.00006
NM_015192.4(PLCB1):c.2112G>A (p.Leu704=) rs139095432 0.00006
NM_015192.4(PLCB1):c.2171A>G (p.Asn724Ser) rs762968564 0.00006
NM_015192.4(PLCB1):c.2982C>T (p.Leu994=) rs770134240 0.00006
NM_015192.4(PLCB1):c.3423+6C>T rs779690813 0.00006
NM_015192.4(PLCB1):c.3533A>G (p.Asn1178Ser) rs200309017 0.00006
NM_015192.4(PLCB1):c.695+10C>G rs763454386 0.00006
NM_015192.4(PLCB1):c.912C>T (p.Asn304=) rs374061975 0.00006
NM_015192.4(PLCB1):c.975T>C (p.Tyr325=) rs372723242 0.00006
NM_007254.4(PNKP):c.1126+7G>A rs368201882 0.00005
NM_007254.4(PNKP):c.1163C>T (p.Ser388Leu) rs146311500 0.00005
NM_007254.4(PNKP):c.1387-48_1387-32del rs537912514 0.00005
NM_007254.4(PNKP):c.1448+12G>A rs770634541 0.00005
NM_007254.4(PNKP):c.351T>C (p.Asp117=) rs545664057 0.00005
NM_007254.4(PNKP):c.355C>A (p.Pro119Thr) rs376650849 0.00005
NM_007254.4(PNKP):c.782C>T (p.Pro261Leu) rs755468325 0.00005
NM_007254.4(PNKP):c.861G>C (p.Val287=) rs75203375 0.00005
NM_007254.4(PNKP):c.968C>T (p.Thr323Met) rs372148913 0.00005
NM_015192.4(PLCB1):c.114T>C (p.Val38=) rs146304198 0.00005
NM_015192.4(PLCB1):c.1470C>T (p.Tyr490=) rs13042803 0.00005
NM_015192.4(PLCB1):c.1536C>T (p.Asp512=) rs544749418 0.00005
NM_015192.4(PLCB1):c.1763+17G>A rs377762613 0.00005
NM_015192.4(PLCB1):c.1767T>C (p.Tyr589=) rs554169035 0.00005
NM_015192.4(PLCB1):c.2091G>A (p.Val697=) rs556016271 0.00005
NM_015192.4(PLCB1):c.3111+6C>T rs971351506 0.00005
NM_007254.4(PNKP):c.1123G>T (p.Gly375Trp) rs786203983 0.00004
NM_007254.4(PNKP):c.1126+14T>G rs971508207 0.00004
NM_007254.4(PNKP):c.1126+9C>T rs3739202 0.00004
NM_007254.4(PNKP):c.1177C>T (p.His393Tyr) rs772610025 0.00004
NM_007254.4(PNKP):c.1188+17G>A rs545237601 0.00004
NM_007254.4(PNKP):c.1189-11C>T rs756362768 0.00004
NM_007254.4(PNKP):c.1202C>G (p.Ser401Cys) rs899556646 0.00004
NM_007254.4(PNKP):c.1324G>A (p.Gly442Ser) rs372459137 0.00004
NM_007254.4(PNKP):c.1329C>T (p.Val443=) rs796052846 0.00004
NM_007254.4(PNKP):c.1387-40_1387-39del rs758626895 0.00004
NM_007254.4(PNKP):c.1401G>A (p.Thr467=) rs374547164 0.00004
NM_007254.4(PNKP):c.1449-19C>A rs772322533 0.00004
NM_007254.4(PNKP):c.199-15C>T rs201254691 0.00004
NM_007254.4(PNKP):c.212C>T (p.Pro71Leu) rs772033320 0.00004
NM_007254.4(PNKP):c.264G>T (p.Gly88=) rs766589333 0.00004
NM_007254.4(PNKP):c.275C>T (p.Thr92Ile) rs780440711 0.00004
NM_007254.4(PNKP):c.312G>A (p.Leu104=) rs375257269 0.00004
NM_007254.4(PNKP):c.39G>A (p.Glu13=) rs565350498 0.00004
NM_007254.4(PNKP):c.579-19C>T rs368764301 0.00004
NM_007254.4(PNKP):c.603dup (p.Lys202Ter) rs796052859 0.00004
NM_007254.4(PNKP):c.61C>G (p.Pro21Ala) rs201748578 0.00004
NM_007254.4(PNKP):c.636+13G>A rs745577158 0.00004
NM_007254.4(PNKP):c.636+1G>T rs1247055716 0.00004
NM_007254.4(PNKP):c.937-16C>T rs755267515 0.00004
NM_015192.4(PLCB1):c.1168-16G>A rs369578844 0.00004
NM_015192.4(PLCB1):c.1242T>C (p.His414=) rs747192374 0.00004
NM_015192.4(PLCB1):c.138C>T (p.Asp46=) rs368510730 0.00004
NM_015192.4(PLCB1):c.1432G>A (p.Gly478Ser) rs749354249 0.00004
NM_015192.4(PLCB1):c.1545T>C (p.Asp515=) rs201832361 0.00004
NM_015192.4(PLCB1):c.1764-6G>C rs753832760 0.00004
NM_015192.4(PLCB1):c.2279G>A (p.Arg760His) rs377440334 0.00004
NM_015192.4(PLCB1):c.2318A>G (p.Tyr773Cys) rs948237591 0.00004
NM_015192.4(PLCB1):c.2564C>T (p.Ala855Val) rs201764744 0.00004
NM_015192.4(PLCB1):c.2656+7C>T rs370608944 0.00004
NM_015192.4(PLCB1):c.2853G>C (p.Lys951Asn) rs202226833 0.00004
NM_015192.4(PLCB1):c.2930+8C>T rs767172522 0.00004
NM_015192.4(PLCB1):c.2930A>G (p.Lys977Arg) rs757601519 0.00004
NM_015192.4(PLCB1):c.2947C>T (p.Pro983Ser) rs371547145 0.00004
NM_015192.4(PLCB1):c.2979C>T (p.Asp993=) rs148394888 0.00004
NM_015192.4(PLCB1):c.3009A>G (p.Gln1003=) rs761097244 0.00004
NM_015192.4(PLCB1):c.3112C>T (p.Leu1038Phe) rs762562905 0.00004
NM_015192.4(PLCB1):c.346C>T (p.His116Tyr) rs1018596939 0.00004
NM_015192.4(PLCB1):c.369A>G (p.Gln123=) rs755560918 0.00004
NM_015192.4(PLCB1):c.735G>A (p.Met245Ile) rs780585750 0.00004
NM_015192.4(PLCB1):c.852C>T (p.Leu284=) rs147648227 0.00004
NM_015192.4(PLCB1):c.905A>G (p.Glu302Gly) rs774418267 0.00004
NM_015192.4(PLCB1):c.919G>A (p.Val307Ile) rs373633394 0.00004
NM_007254.4(PNKP):c.1020C>T (p.Ala340=) rs745968911 0.00003
NM_007254.4(PNKP):c.1029+20G>T rs1239545577 0.00003
NM_007254.4(PNKP):c.1030-9C>T rs368699840 0.00003
NM_007254.4(PNKP):c.1042C>T (p.Arg348Cys) rs530663093 0.00003
NM_007254.4(PNKP):c.1191C>T (p.Asp397=) rs376011384 0.00003
NM_007254.4(PNKP):c.1285G>A (p.Ala429Thr) rs148386689 0.00003
NM_007254.4(PNKP):c.1302C>T (p.Tyr434=) rs747244348 0.00003
NM_007254.4(PNKP):c.1308G>C (p.Gln436His) rs780067167 0.00003
NM_007254.4(PNKP):c.1322C>G (p.Ala441Gly) rs549000007 0.00003
NM_007254.4(PNKP):c.1386+19G>T rs1057523595 0.00003
NM_007254.4(PNKP):c.1482C>T (p.Gly494=) rs60279874 0.00003
NM_007254.4(PNKP):c.1483T>C (p.Phe495Leu) rs1165689250 0.00003
NM_007254.4(PNKP):c.1513C>T (p.Leu505=) rs201661864 0.00003
NM_007254.4(PNKP):c.1517G>A (p.Trp506Ter) rs778043139 0.00003
NM_007254.4(PNKP):c.1559A>G (p.Glu520Gly) rs886043128 0.00003
NM_007254.4(PNKP):c.20C>T (p.Pro7Leu) rs776442624 0.00003
NM_007254.4(PNKP):c.327C>G (p.Thr109=) rs749579842 0.00003
NM_007254.4(PNKP):c.366C>T (p.Thr122=) rs145274731 0.00003
NM_007254.4(PNKP):c.403C>T (p.Leu135=) rs766739774 0.00003
NM_007254.4(PNKP):c.611G>A (p.Arg204Gln) rs751820948 0.00003
NM_007254.4(PNKP):c.736C>T (p.Pro246Ser) rs147553148 0.00003
NM_007254.4(PNKP):c.789G>A (p.Thr263=) rs768661843 0.00003
NM_007254.4(PNKP):c.817-12C>T rs369567366 0.00003
NM_007254.4(PNKP):c.834C>T (p.Pro278=) rs372595462 0.00003
NM_007254.4(PNKP):c.961T>C (p.Phe321Leu) rs1210892846 0.00003
NM_007254.4(PNKP):c.979T>C (p.Phe327Leu) rs912223009 0.00003
NM_015192.4(PLCB1):c.1167+10A>G rs745755417 0.00003
NM_015192.4(PLCB1):c.1296T>C (p.Phe432=) rs781444977 0.00003
NM_015192.4(PLCB1):c.1317G>C (p.Glu439Asp) rs746127346 0.00003
NM_015192.4(PLCB1):c.1336-5A>G rs752723995 0.00003
NM_015192.4(PLCB1):c.1581+4G>A rs761829659 0.00003
NM_015192.4(PLCB1):c.1763+9G>T rs765638834 0.00003
NM_015192.4(PLCB1):c.2328A>G (p.Leu776=) rs145778961 0.00003
NM_015192.4(PLCB1):c.2559T>G (p.Ser853Arg) rs753642857 0.00003
NM_015192.4(PLCB1):c.2742G>A (p.Lys914=) rs776762609 0.00003
NM_015192.4(PLCB1):c.2908G>A (p.Ala970Thr) rs763567304 0.00003
NM_015192.4(PLCB1):c.301C>T (p.Arg101Cys) rs868772684 0.00003
NM_015192.4(PLCB1):c.3373G>A (p.Val1125Ile) rs773333771 0.00003
NM_015192.4(PLCB1):c.345C>T (p.Ser115=) rs756143193 0.00003
NM_015192.4(PLCB1):c.499G>A (p.Gly167Arg) rs749130736 0.00003
NM_015192.4(PLCB1):c.54G>A (p.Val18=) rs762431785 0.00003
NM_015192.4(PLCB1):c.660C>T (p.Cys220=) rs184317533 0.00003
NM_015192.4(PLCB1):c.78C>A (p.Thr26=) rs553711213 0.00003
NM_015192.4(PLCB1):c.890G>A (p.Arg297His) rs775904184 0.00003
NM_015192.4(PLCB1):c.913G>A (p.Gly305Arg) rs370525961 0.00003
NM_015192.4(PLCB1):c.99+14C>T rs370355249 0.00003
NM_015192.4(PLCB1):c.99+15G>A rs372562880 0.00003
NM_007254.4(PNKP):c.1002C>T (p.Ala334=) rs748042567 0.00002
NM_007254.4(PNKP):c.1030-5C>T rs374745816 0.00002
NM_007254.4(PNKP):c.1095G>A (p.Pro365=) rs139540159 0.00002
NM_007254.4(PNKP):c.1120C>T (p.Pro374Ser) rs760583725 0.00002
NM_007254.4(PNKP):c.1121C>T (p.Pro374Leu) rs1391995905 0.00002
NM_007254.4(PNKP):c.1127-7C>T rs772557014 0.00002
NM_007254.4(PNKP):c.1158C>G (p.Leu386=) rs373766090 0.00002
NM_007254.4(PNKP):c.1188+12C>T rs780736753 0.00002
NM_007254.4(PNKP):c.1274A>G (p.Asn425Ser) rs541840060 0.00002
NM_007254.4(PNKP):c.1286C>T (p.Ala429Val) rs769707108 0.00002
NM_007254.4(PNKP):c.130C>A (p.Arg44=) rs374921362 0.00002
NM_007254.4(PNKP):c.1344C>T (p.Phe448=) rs762529581 0.00002
NM_007254.4(PNKP):c.1370C>T (p.Ala457Val) rs776349198 0.00002
NM_007254.4(PNKP):c.1386+43G>A rs775229994 0.00002
NM_007254.4(PNKP):c.1387-2A>G rs766419491 0.00002
NM_007254.4(PNKP):c.1471C>T (p.Leu491=) rs779306097 0.00002
NM_007254.4(PNKP):c.1511G>A (p.Arg504Gln) rs745651405 0.00002
NM_007254.4(PNKP):c.1554C>T (p.Phe518=) rs541143958 0.00002
NM_007254.4(PNKP):c.1565G>A (p.Ter522=) rs778165913 0.00002
NM_007254.4(PNKP):c.248T>C (p.Leu83Ser) rs756169949 0.00002
NM_007254.4(PNKP):c.267G>A (p.Val89=) rs531640505 0.00002
NM_007254.4(PNKP):c.314G>A (p.Arg105His) rs535302504 0.00002
NM_007254.4(PNKP):c.318G>A (p.Trp106Ter) rs2074810148 0.00002
NM_007254.4(PNKP):c.344A>G (p.Gln115Arg) rs200055661 0.00002
NM_007254.4(PNKP):c.357G>A (p.Pro119=) rs766826936 0.00002
NM_007254.4(PNKP):c.498+15G>A rs765136807 0.00002
NM_007254.4(PNKP):c.588C>T (p.Tyr196=) rs745459391 0.00002
NM_007254.4(PNKP):c.673G>A (p.Gly225Arg) rs144257114 0.00002
NM_007254.4(PNKP):c.687C>T (p.Ala229=) rs776236270 0.00002
NM_007254.4(PNKP):c.811G>A (p.Glu271Lys) rs1028247558 0.00002
NM_007254.4(PNKP):c.816G>A (p.Gln272=) rs534099292 0.00002
NM_007254.4(PNKP):c.865+1G>A rs762003634 0.00002
NM_007254.4(PNKP):c.936+6G>A rs751664776 0.00002
NM_007254.4(PNKP):c.937-10C>T rs376801468 0.00002
NM_007254.4(PNKP):c.948C>T (p.Asn316=) rs1173052486 0.00002
NM_015192.4(PLCB1):c.1009+7A>T rs777208922 0.00002
NM_015192.4(PLCB1):c.1168-17T>A rs756936385 0.00002
NM_015192.4(PLCB1):c.1336-19T>A rs765872972 0.00002
NM_015192.4(PLCB1):c.1415A>C (p.Lys472Thr) rs368448785 0.00002
NM_015192.4(PLCB1):c.1431C>T (p.Ser477=) rs758504402 0.00002
NM_015192.4(PLCB1):c.1542C>T (p.Asp514=) rs781714752 0.00002
NM_015192.4(PLCB1):c.1551T>G (p.Asp517Glu) rs150189968 0.00002
NM_015192.4(PLCB1):c.1582-8A>G rs775526031 0.00002
NM_015192.4(PLCB1):c.2308+14G>C rs768572485 0.00002
NM_015192.4(PLCB1):c.231C>T (p.His77=) rs773937907 0.00002
NM_015192.4(PLCB1):c.2355G>A (p.Thr785=) rs763065886 0.00002
NM_015192.4(PLCB1):c.2382A>G (p.Glu794=) rs762411079 0.00002
NM_015192.4(PLCB1):c.2413+7A>G rs369440734 0.00002
NM_015192.4(PLCB1):c.2829C>A (p.Asp943Glu) rs745349550 0.00002
NM_015192.4(PLCB1):c.2916G>A (p.Lys972=) rs751967802 0.00002
NM_015192.4(PLCB1):c.2934G>A (p.Ser978=) rs748740359 0.00002
NM_015192.4(PLCB1):c.2946C>T (p.Ser982=) rs369387650 0.00002
NM_015192.4(PLCB1):c.3059G>A (p.Arg1020Gln) rs758283980 0.00002
NM_015192.4(PLCB1):c.309C>A (p.Ile103=) rs770498816 0.00002
NM_015192.4(PLCB1):c.3136G>A (p.Ala1046Thr) rs778097231 0.00002
NM_015192.4(PLCB1):c.3326A>G (p.Tyr1109Cys) rs747642151 0.00002
NM_015192.4(PLCB1):c.3475C>G (p.Leu1159Val) rs1987996323 0.00002
NM_015192.4(PLCB1):c.3477C>T (p.Leu1159=) rs774970817 0.00002
NM_015192.4(PLCB1):c.3493G>A (p.Val1165Met) rs772786871 0.00002
NM_015192.4(PLCB1):c.3572G>C (p.Gly1191Ala) rs772366922 0.00002
NM_015192.4(PLCB1):c.464C>T (p.Ala155Val) rs148738915 0.00002
NM_015192.4(PLCB1):c.518+16A>G rs373931059 0.00002
NM_015192.4(PLCB1):c.816A>G (p.Gln272=) rs773100834 0.00002
NM_015192.4(PLCB1):c.889C>T (p.Arg297Cys) rs149661663 0.00002
NM_015192.4(PLCB1):c.99+20G>A rs540693889 0.00002
NM_015192.4(PLCB1):c.990G>A (p.Ser330=) rs375950955 0.00002
NM_007254.4(PNKP):c.1016C>T (p.Pro339Leu) rs1025604697 0.00001
NM_007254.4(PNKP):c.1018G>C (p.Ala340Pro) rs1194802183 0.00001
NM_007254.4(PNKP):c.1029+16G>A rs982882766 0.00001
NM_007254.4(PNKP):c.1046C>T (p.Ser349Leu) rs758045226 0.00001
NM_007254.4(PNKP):c.1048G>C (p.Gly350Arg) rs750098786 0.00001
NM_007254.4(PNKP):c.1050G>A (p.Gly350=) rs1194208521 0.00001
NM_007254.4(PNKP):c.1051C>T (p.Pro351Ser) rs764879888 0.00001
NM_007254.4(PNKP):c.1052C>T (p.Pro351Leu) rs797045891 0.00001
NM_007254.4(PNKP):c.1056C>G (p.Leu352=) rs767011520 0.00001
NM_007254.4(PNKP):c.1066G>T (p.Glu356Ter) rs1170743406 0.00001
NM_007254.4(PNKP):c.1074G>A (p.Arg358=) rs771883677 0.00001
NM_007254.4(PNKP):c.1087G>A (p.Ala363Thr) rs1187151464 0.00001
NM_007254.4(PNKP):c.10G>T (p.Val4Leu) rs530767303 0.00001
NM_007254.4(PNKP):c.1107C>T (p.Val369=) rs1233198739 0.00001
NM_007254.4(PNKP):c.1108G>A (p.Ala370Thr) rs945654606 0.00001
NM_007254.4(PNKP):c.1125G>A (p.Gly375=) rs727504101 0.00001
NM_007254.4(PNKP):c.1126+10C>T rs1459307960 0.00001
NM_007254.4(PNKP):c.1127-6A>C rs936791908 0.00001
NM_007254.4(PNKP):c.1129G>A (p.Gly377Arg) rs777457079 0.00001
NM_007254.4(PNKP):c.1140C>T (p.Thr380=) rs780500233 0.00001
NM_007254.4(PNKP):c.1145T>C (p.Leu382Pro) rs796052855 0.00001
NM_007254.4(PNKP):c.1188+19C>T rs1484018266 0.00001
NM_007254.4(PNKP):c.1188+1G>A rs1057518102 0.00001
NM_007254.4(PNKP):c.1188+20G>A rs779991747 0.00001
NM_007254.4(PNKP):c.1189-10G>C rs1458942967 0.00001
NM_007254.4(PNKP):c.1189-15C>G rs1385478589 0.00001
NM_007254.4(PNKP):c.1193C>T (p.Thr398Met) rs1010036717 0.00001
NM_007254.4(PNKP):c.1200C>T (p.Gly400=) rs1188834887 0.00001
NM_007254.4(PNKP):c.1207C>T (p.Gln403Ter) rs372404688 0.00001
NM_007254.4(PNKP):c.1210C>T (p.Arg404Cys) rs768304312 0.00001
NM_007254.4(PNKP):c.1212C>T (p.Arg404=) rs775042023 0.00001
NM_007254.4(PNKP):c.1217T>G (p.Val406Gly) rs141938129 0.00001
NM_007254.4(PNKP):c.1219A>C (p.Thr407Pro) rs199652836 0.00001
NM_007254.4(PNKP):c.1232C>T (p.Thr411Ile) rs868384150 0.00001
NM_007254.4(PNKP):c.1233A>G (p.Thr411=) rs1057522305 0.00001
NM_007254.4(PNKP):c.1235C>T (p.Ala412Val) rs1060502500 0.00001
NM_007254.4(PNKP):c.1239G>A (p.Leu413=) rs1488660891 0.00001
NM_007254.4(PNKP):c.1247G>A (p.Gly416Glu) rs1198936842 0.00001
NM_007254.4(PNKP):c.1255G>A (p.Val419Ile) rs756416098 0.00001
NM_007254.4(PNKP):c.1258G>T (p.Ala420Ser) rs754981151 0.00001
NM_007254.4(PNKP):c.1287G>A (p.Ala429=) rs1281900821 0.00001
NM_007254.4(PNKP):c.1287G>C (p.Ala429=) rs1281900821 0.00001
NM_007254.4(PNKP):c.1292G>A (p.Arg431His) rs950502049 0.00001
NM_007254.4(PNKP):c.1293C>T (p.Arg431=) rs143390809 0.00001
NM_007254.4(PNKP):c.1295C>T (p.Ala432Val) rs1568658987 0.00001
NM_007254.4(PNKP):c.1298+1_1298+10del rs1568658916 0.00001
NM_007254.4(PNKP):c.1299-11T>C rs776421692 0.00001
NM_007254.4(PNKP):c.1299-5C>T rs1057522419 0.00001
NM_007254.4(PNKP):c.1299-9C>T rs1055654261 0.00001
NM_007254.4(PNKP):c.1303G>A (p.Val435Ile) rs1568658756 0.00001
NM_007254.4(PNKP):c.1309T>C (p.Cys437Arg) rs772111430 0.00001
NM_007254.4(PNKP):c.1315C>T (p.Arg439Ter) rs539286945 0.00001
NM_007254.4(PNKP):c.1323G>A (p.Ala441=) rs778138676 0.00001
NM_007254.4(PNKP):c.1330C>T (p.Pro444Ser) rs1191025361 0.00001
NM_007254.4(PNKP):c.1331C>T (p.Pro444Leu) rs908736344 0.00001
NM_007254.4(PNKP):c.1373G>A (p.Arg458His) rs1187812495 0.00001
NM_007254.4(PNKP):c.1383C>T (p.Asn461=) rs745974624 0.00001
NM_007254.4(PNKP):c.1384C>T (p.Arg462Trp) rs778893834 0.00001
NM_007254.4(PNKP):c.1386+46C>T rs767727372 0.00001
NM_007254.4(PNKP):c.1387-12T>C rs1446884587 0.00001
NM_007254.4(PNKP):c.1387-38G>A rs1568658400 0.00001
NM_007254.4(PNKP):c.1387-3C>G rs1470343514 0.00001
NM_007254.4(PNKP):c.1387-47dup rs747142211 0.00001
NM_007254.4(PNKP):c.1387-4A>C rs774527024 0.00001
NM_007254.4(PNKP):c.1387-8C>T rs541604147 0.00001
NM_007254.4(PNKP):c.1416C>T (p.Ile472=) rs1406190021 0.00001
NM_007254.4(PNKP):c.1429A>G (p.Met477Val) rs796052856 0.00001
NM_007254.4(PNKP):c.1430T>C (p.Met477Thr) rs766655539 0.00001
NM_007254.4(PNKP):c.1432G>A (p.Val478Ile) rs796052857 0.00001
NM_007254.4(PNKP):c.143del (p.Arg48fs) rs766530579 0.00001
NM_007254.4(PNKP):c.1448+16G>A rs1468792596 0.00001
NM_007254.4(PNKP):c.1448+7T>C rs775646444 0.00001
NM_007254.4(PNKP):c.1465C>T (p.Pro489Ser) rs746916070 0.00001
NM_007254.4(PNKP):c.1477G>A (p.Glu493Lys) rs1488577824 0.00001
NM_007254.4(PNKP):c.1496T>A (p.Leu499Gln) rs774739756 0.00001
NM_007254.4(PNKP):c.14A>G (p.Glu5Gly) rs1278449939 0.00001
NM_007254.4(PNKP):c.152-18C>G rs779728115 0.00001
NM_007254.4(PNKP):c.152-8A>G rs751424212 0.00001
NM_007254.4(PNKP):c.152T>G (p.Val51Gly) rs758700077 0.00001
NM_007254.4(PNKP):c.1537C>T (p.Arg513Trp) rs112217838 0.00001
NM_007254.4(PNKP):c.1538G>A (p.Arg513Gln) rs761491872 0.00001
NM_007254.4(PNKP):c.1551G>A (p.Gln517=) rs771913446 0.00001
NM_007254.4(PNKP):c.1558G>C (p.Glu520Gln) rs770823063 0.00001
NM_007254.4(PNKP):c.1561G>A (p.Gly521Ser) rs1289682803 0.00001
NM_007254.4(PNKP):c.184G>A (p.Val62Met) rs1467903741 0.00001
NM_007254.4(PNKP):c.199-13T>C rs557741670 0.00001
NM_007254.4(PNKP):c.199-18C>G rs769513325 0.00001
NM_007254.4(PNKP):c.199-7T>A rs904994238 0.00001
NM_007254.4(PNKP):c.24C>T (p.Gly8=) rs1057522863 0.00001
NM_007254.4(PNKP):c.267G>T (p.Val89=) rs531640505 0.00001
NM_007254.4(PNKP):c.313C>T (p.Arg105Cys) rs1016887861 0.00001
NM_007254.4(PNKP):c.329G>A (p.Arg110His) rs867937617 0.00001
NM_007254.4(PNKP):c.363dup (p.Thr122fs) rs745505490 0.00001
NM_007254.4(PNKP):c.422G>A (p.Arg141Gln) rs570013652 0.00001
NM_007254.4(PNKP):c.473C>T (p.Ala158Val) rs372615308 0.00001
NM_007254.4(PNKP):c.482T>C (p.Val161Ala) rs368921337 0.00001
NM_007254.4(PNKP):c.498G>A (p.Lys166=) rs141251138 0.00001
NM_007254.4(PNKP):c.499-4C>G rs545573584 0.00001
NM_007254.4(PNKP):c.499-7A>C rs909512959 0.00001
NM_007254.4(PNKP):c.520G>A (p.Gly174Arg) rs142770020 0.00001
NM_007254.4(PNKP):c.564C>T (p.Gly188=) rs574408360 0.00001
NM_007254.4(PNKP):c.566C>G (p.Pro189Arg) rs570975244 0.00001
NM_007254.4(PNKP):c.56C>T (p.Ala19Val) rs201258910 0.00001
NM_007254.4(PNKP):c.579-5C>T rs767753048 0.00001
NM_007254.4(PNKP):c.585G>A (p.Leu195=) rs770100322 0.00001
NM_007254.4(PNKP):c.602G>A (p.Arg201His) rs150253619 0.00001
NM_007254.4(PNKP):c.60C>T (p.Pro20=) rs1037495706 0.00001
NM_007254.4(PNKP):c.624C>T (p.Ala208=) rs571119317 0.00001
NM_007254.4(PNKP):c.625G>A (p.Glu209Lys) rs773641701 0.00001
NM_007254.4(PNKP):c.634A>G (p.Lys212Glu) rs762187891 0.00001
NM_007254.4(PNKP):c.636+12C>T rs768950578 0.00001
NM_007254.4(PNKP):c.636+19C>G rs777095183 0.00001
NM_007254.4(PNKP):c.637-6C>T rs1421820816 0.00001
NM_007254.4(PNKP):c.637C>T (p.Leu213=) rs770006231 0.00001
NM_007254.4(PNKP):c.657G>A (p.Gln219=) rs1332607261 0.00001
NM_007254.4(PNKP):c.667G>A (p.Gly223Arg) rs764562312 0.00001
NM_007254.4(PNKP):c.688G>A (p.Glu230Lys) rs768745851 0.00001
NM_007254.4(PNKP):c.713C>T (p.Ala238Val) rs746166841 0.00001
NM_007254.4(PNKP):c.718G>A (p.Val240Met) rs1315272571 0.00001
NM_007254.4(PNKP):c.723G>A (p.Glu241=) rs778970176 0.00001
NM_007254.4(PNKP):c.741C>T (p.Phe247=) rs767980504 0.00001
NM_007254.4(PNKP):c.744+8T>C rs587784370 0.00001
NM_007254.4(PNKP):c.758C>T (p.Thr253Met) rs538161505 0.00001
NM_007254.4(PNKP):c.759G>A (p.Thr253=) rs1057522106 0.00001
NM_007254.4(PNKP):c.762C>T (p.His254=) rs794727920 0.00001
NM_007254.4(PNKP):c.763G>A (p.Ala255Thr) rs398124249 0.00001
NM_007254.4(PNKP):c.776G>A (p.Arg259Gln) rs1358481768 0.00001
NM_007254.4(PNKP):c.780G>A (p.Lys260=) rs1019739332 0.00001
NM_007254.4(PNKP):c.788C>T (p.Thr263Met) rs766704284 0.00001
NM_007254.4(PNKP):c.792C>T (p.Gly264=) rs1188638021 0.00001
NM_007254.4(PNKP):c.794T>C (p.Met265Thr) rs756988038 0.00001
NM_007254.4(PNKP):c.816+6T>A rs1313353571 0.00001
NM_007254.4(PNKP):c.817-5C>T rs398124250 0.00001
NM_007254.4(PNKP):c.830C>T (p.Thr277Met) rs1453288814 0.00001
NM_007254.4(PNKP):c.853A>G (p.Ile285Val) rs750224965 0.00001
NM_007254.4(PNKP):c.863G>A (p.Gly288Glu) rs1215859117 0.00001
NM_007254.4(PNKP):c.865+20T>C rs921950177 0.00001
NM_007254.4(PNKP):c.865+6G>A rs776910301 0.00001
NM_007254.4(PNKP):c.868G>A (p.Ala290Thr) rs1485940017 0.00001
NM_007254.4(PNKP):c.872C>G (p.Ala291Gly) rs1259588757 0.00001
NM_007254.4(PNKP):c.873C>T (p.Ala291=) rs749641401 0.00001
NM_007254.4(PNKP):c.925G>A (p.Ala309Thr) rs202022265 0.00001
NM_007254.4(PNKP):c.927C>A (p.Ala309=) rs375879639 0.00001
NM_007254.4(PNKP):c.932G>A (p.Arg311His) rs372435922 0.00001
NM_007254.4(PNKP):c.936+10C>T rs750891370 0.00001
NM_007254.4(PNKP):c.936+8C>T rs763573850 0.00001
NM_007254.4(PNKP):c.942C>T (p.Ala314=) rs1268054245 0.00001
NM_007254.4(PNKP):c.960C>T (p.Pro320=) rs2074781901 0.00001
NM_007254.4(PNKP):c.969G>A (p.Thr323=) rs1257495491 0.00001
NM_007254.4(PNKP):c.987C>T (p.Leu329=) rs150644303 0.00001
NM_007254.4(PNKP):c.992G>A (p.Trp331Ter) rs772727116 0.00001
NM_015192.4(PLCB1):c.1010-4A>G rs1208664909 0.00001
NM_015192.4(PLCB1):c.1014C>A (p.Gly338=) rs760110304 0.00001
NM_015192.4(PLCB1):c.1059C>T (p.Leu353=) rs765550076 0.00001
NM_015192.4(PLCB1):c.1128C>T (p.Ile376=) rs1450261335 0.00001
NM_015192.4(PLCB1):c.1167+11T>C rs756079683 0.00001
NM_015192.4(PLCB1):c.1168-16G>T rs369578844 0.00001
NM_015192.4(PLCB1):c.117T>C (p.Thr39=) rs371499786 0.00001
NM_015192.4(PLCB1):c.1183A>G (p.Ile395Val) rs564559831 0.00001
NM_015192.4(PLCB1):c.1219A>G (p.Ile407Val) rs546265226 0.00001
NM_015192.4(PLCB1):c.121A>G (p.Ile41Val) rs191106606 0.00001
NM_015192.4(PLCB1):c.1250C>T (p.Ser417Phe) rs559611655 0.00001
NM_015192.4(PLCB1):c.129G>A (p.Leu43=) rs374402412 0.00001
NM_015192.4(PLCB1):c.12T>C (p.Ala4=) rs757558506 0.00001
NM_015192.4(PLCB1):c.1321C>T (p.Leu441=) rs1332948192 0.00001
NM_015192.4(PLCB1):c.1366A>G (p.Met456Val) rs777452326 0.00001
NM_015192.4(PLCB1):c.1446C>T (p.Leu482=) rs372481162 0.00001
NM_015192.4(PLCB1):c.1460C>T (p.Ser487Phe) rs1376374003 0.00001
NM_015192.4(PLCB1):c.1474G>A (p.Asp492Asn) rs1319451536 0.00001
NM_015192.4(PLCB1):c.1513+12G>T rs1466798040 0.00001
NM_015192.4(PLCB1):c.1513+7G>A rs748079484 0.00001
NM_015192.4(PLCB1):c.1537G>A (p.Asp513Asn) rs764250569 0.00001
NM_015192.4(PLCB1):c.1582-10C>T rs770810162 0.00001
NM_015192.4(PLCB1):c.1582-3C>A rs1055626063 0.00001
NM_015192.4(PLCB1):c.1584G>A (p.Gly528=) rs957436764 0.00001
NM_015192.4(PLCB1):c.1590T>C (p.Ala530=) rs751676929 0.00001
NM_015192.4(PLCB1):c.1643A>T (p.Gln548Leu) rs1158119382 0.00001
NM_015192.4(PLCB1):c.1657G>C (p.Glu553Gln) rs1555786069 0.00001
NM_015192.4(PLCB1):c.1668A>G (p.Glu556=) rs886056963 0.00001
NM_015192.4(PLCB1):c.1686T>G (p.Asn562Lys) rs745674166 0.00001
NM_015192.4(PLCB1):c.1698A>G (p.Glu566=) rs774696079 0.00001
NM_015192.4(PLCB1):c.1710C>T (p.Phe570=) rs772233698 0.00001
NM_015192.4(PLCB1):c.1711G>A (p.Val571Met) rs1394924865 0.00001
NM_015192.4(PLCB1):c.1742A>G (p.Lys581Arg) rs1568574949 0.00001
NM_015192.4(PLCB1):c.1752G>C (p.Val584=) rs370361540 0.00001
NM_015192.4(PLCB1):c.1782T>C (p.Leu594=) rs878855005 0.00001
NM_015192.4(PLCB1):c.1839C>T (p.Leu613=) rs756005851 0.00001
NM_015192.4(PLCB1):c.186G>A (p.Glu62=) rs770172716 0.00001
NM_015192.4(PLCB1):c.1888+10T>C rs1429911952 0.00001
NM_015192.4(PLCB1):c.1889-4T>G rs1474211054 0.00001
NM_015192.4(PLCB1):c.1929C>T (p.Asn643=) rs757435266 0.00001
NM_015192.4(PLCB1):c.1930G>A (p.Gly644Arg) rs781536705 0.00001
NM_015192.4(PLCB1):c.1961T>C (p.Phe654Ser) rs369668806 0.00001
NM_015192.4(PLCB1):c.2007C>T (p.Ile669=) rs373550621 0.00001
NM_015192.4(PLCB1):c.2008G>A (p.Val670Ile) rs772981786 0.00001
NM_015192.4(PLCB1):c.200G>A (p.Ser67Asn) rs775742325 0.00001
NM_015192.4(PLCB1):c.2042A>G (p.Lys681Arg) rs776660417 0.00001
NM_015192.4(PLCB1):c.2067T>C (p.Ser689=) rs1016422043 0.00001
NM_015192.4(PLCB1):c.2134G>T (p.Ala712Ser) rs978185234 0.00001
NM_015192.4(PLCB1):c.2176G>A (p.Val726Ile) rs756337847 0.00001
NM_015192.4(PLCB1):c.2235G>A (p.Leu745=) rs587780416 0.00001
NM_015192.4(PLCB1):c.2244A>C (p.Ala748=) rs1208701865 0.00001
NM_015192.4(PLCB1):c.2267T>G (p.Phe756Cys) rs1350964561 0.00001
NM_015192.4(PLCB1):c.2286G>T (p.Leu762Phe) rs202079822 0.00001
NM_015192.4(PLCB1):c.2300T>C (p.Ile767Thr) rs745553901 0.00001
NM_015192.4(PLCB1):c.2309-10C>T rs1336127825 0.00001
NM_015192.4(PLCB1):c.2329A>C (p.Arg777=) rs1467021390 0.00001
NM_015192.4(PLCB1):c.2405C>T (p.Thr802Ile) rs377053037 0.00001
NM_015192.4(PLCB1):c.2414-14T>G rs755970261 0.00001
NM_015192.4(PLCB1):c.2421C>T (p.Ile807=) rs768060162 0.00001
NM_015192.4(PLCB1):c.2534G>A (p.Gly845Glu) rs749715935 0.00001
NM_015192.4(PLCB1):c.2552C>T (p.Ala851Val) rs1326445069 0.00001
NM_015192.4(PLCB1):c.2600C>T (p.Thr867Ile) rs746314670 0.00001
NM_015192.4(PLCB1):c.260G>A (p.Arg87His) rs750475493 0.00001
NM_015192.4(PLCB1):c.2657-15T>C rs779343687 0.00001
NM_015192.4(PLCB1):c.2691T>C (p.Leu897=) rs1360354865 0.00001
NM_015192.4(PLCB1):c.2711-17A>C rs769765757 0.00001
NM_015192.4(PLCB1):c.2736A>G (p.Glu912=) rs760894841 0.00001
NM_015192.4(PLCB1):c.2753C>T (p.Ser918Leu) rs759604666 0.00001
NM_015192.4(PLCB1):c.2769A>G (p.Gln923=) rs1207055034 0.00001
NM_015192.4(PLCB1):c.2784A>G (p.Lys928=) rs1185092500 0.00001
NM_015192.4(PLCB1):c.2785G>C (p.Glu929Gln) rs758788229 0.00001
NM_015192.4(PLCB1):c.2886G>A (p.Arg962=) rs1488153462 0.00001
NM_015192.4(PLCB1):c.288G>T (p.Gly96=) rs200521017 0.00001
NM_015192.4(PLCB1):c.2892C>T (p.Ala964=) rs546783466 0.00001
NM_015192.4(PLCB1):c.2893G>A (p.Ala965Thr) rs1253411202 0.00001
NM_015192.4(PLCB1):c.289C>T (p.Arg97Cys) rs778824465 0.00001
NM_015192.4(PLCB1):c.2930+17T>G rs754899592 0.00001
NM_015192.4(PLCB1):c.2930+4A>G rs1467441458 0.00001
NM_015192.4(PLCB1):c.2969T>C (p.Ile990Thr) rs758174226 0.00001
NM_015192.4(PLCB1):c.3074A>G (p.Tyr1025Cys) rs1250342429 0.00001
NM_015192.4(PLCB1):c.3095G>A (p.Arg1032Gln) rs780373377 0.00001
NM_015192.4(PLCB1):c.3105T>G (p.Ile1035Met) rs1458003629 0.00001
NM_015192.4(PLCB1):c.3111+7C>T rs749548164 0.00001
NM_015192.4(PLCB1):c.3128C>T (p.Thr1043Met) rs754052641 0.00001
NM_015192.4(PLCB1):c.3172A>G (p.Lys1058Glu) rs771219955 0.00001
NM_015192.4(PLCB1):c.319T>C (p.Tyr107His) rs759519379 0.00001
NM_015192.4(PLCB1):c.31T>G (p.Leu11Val) rs759794686 0.00001
NM_015192.4(PLCB1):c.3292A>G (p.Met1098Val) rs1325949995 0.00001
NM_015192.4(PLCB1):c.3294G>T (p.Met1098Ile) rs1983651282 0.00001
NM_015192.4(PLCB1):c.3300G>T (p.Arg1100=) rs370182417 0.00001
NM_015192.4(PLCB1):c.3336G>A (p.Arg1112=) rs771734537 0.00001
NM_015192.4(PLCB1):c.3339A>G (p.Leu1113=) rs757919673 0.00001
NM_015192.4(PLCB1):c.3348G>A (p.Ala1116=) rs587780417 0.00001
NM_015192.4(PLCB1):c.3366A>G (p.Glu1122=) rs762035591 0.00001
NM_015192.4(PLCB1):c.3372C>T (p.Leu1124=) rs530567846 0.00001
NM_015192.4(PLCB1):c.340A>G (p.Ile114Val) rs561450964 0.00001
NM_015192.4(PLCB1):c.3422A>C (p.Lys1141Thr) rs758111758 0.00001
NM_015192.4(PLCB1):c.3423+7G>A rs371050518 0.00001
NM_015192.4(PLCB1):c.3424-20C>T rs1167790783 0.00001
NM_015192.4(PLCB1):c.3424-9G>A rs1045955231 0.00001
NM_015192.4(PLCB1):c.3432G>T (p.Val1144=) rs756201478 0.00001
NM_015192.4(PLCB1):c.3447A>G (p.Glu1149=) rs142432676 0.00001
NM_015192.4(PLCB1):c.3492C>T (p.Phe1164=) rs1184688670 0.00001
NM_015192.4(PLCB1):c.3505A>G (p.Met1169Val) rs766079031 0.00001
NM_015192.4(PLCB1):c.3522T>G (p.Ser1174Arg) rs765066861 0.00001
NM_015192.4(PLCB1):c.3549T>C (p.Pro1183=) rs780459225 0.00001
NM_015192.4(PLCB1):c.354T>C (p.Asn118=) rs766604971 0.00001
NM_015192.4(PLCB1):c.357C>T (p.Leu119=) rs754371354 0.00001
NM_015192.4(PLCB1):c.3616G>A (p.Asp1206Asn) rs761748712 0.00001
NM_015192.4(PLCB1):c.3626G>A (p.Gly1209Glu) rs779064619 0.00001
NM_015192.4(PLCB1):c.379G>A (p.Ala127Thr) rs779377929 0.00001
NM_015192.4(PLCB1):c.385-9A>G rs762641125 0.00001
NM_015192.4(PLCB1):c.387A>G (p.Glu129=) rs764014646 0.00001
NM_015192.4(PLCB1):c.405C>T (p.Phe135=) rs1170601854 0.00001
NM_015192.4(PLCB1):c.42G>A (p.Lys14=) rs775655063 0.00001
NM_015192.4(PLCB1):c.432A>G (p.Gln144=) rs142874818 0.00001
NM_015192.4(PLCB1):c.456G>A (p.Leu152=) rs200598979 0.00001
NM_015192.4(PLCB1):c.519-14T>C rs896154135 0.00001
NM_015192.4(PLCB1):c.528C>G (p.Arg176=) rs1989250535 0.00001
NM_015192.4(PLCB1):c.564T>A (p.Ala188=) rs775374724 0.00001
NM_015192.4(PLCB1):c.570G>A (p.Glu190=) rs966250838 0.00001
NM_015192.4(PLCB1):c.595-17G>A rs776894788 0.00001
NM_015192.4(PLCB1):c.696-3T>C rs1439321294 0.00001
NM_015192.4(PLCB1):c.723C>T (p.Thr241=) rs781550034 0.00001
NM_015192.4(PLCB1):c.807G>C (p.Glu269Asp) rs1222914240 0.00001
NM_015192.4(PLCB1):c.853G>A (p.Ala285Thr) rs776416226 0.00001
NM_015192.4(PLCB1):c.862+16C>T rs751879371 0.00001
NM_015192.4(PLCB1):c.862+7dup rs1374117351 0.00001
NM_015192.4(PLCB1):c.867A>G (p.Gln289=) rs746884664 0.00001
NM_015192.4(PLCB1):c.942G>A (p.Leu314=) rs182563538 0.00001
NM_015192.4(PLCB1):c.963C>A (p.Pro321=) rs779382331 0.00001
NM_015192.4(PLCB1):c.99+12G>C rs763276609 0.00001
NC_000019.10:g.(?_49861228)_(49861901_?)del
NC_000019.10:g.(?_49861228)_(49867224_?)dup
NC_000019.9:g.(?_49519325)_(50366015_?)dup
NC_000019.9:g.(?_49713446)_(50413064_?)dup
NC_000019.9:g.(?_50331686)_(50367680_?)del
NC_000019.9:g.(?_50364485)_(50370481_?)del
NC_000019.9:g.(?_50366993)_(50370363_?)del
NC_000020.10:g.(?_7812350)_(10654278_?)del
NC_000020.10:g.(?_8113279)_(8352117_?)del
NC_000020.10:g.(?_8113279)_(8352117_?)dup
NC_000020.10:g.(?_8113279)_(8862516_?)dup
NC_000020.10:g.(?_8113299)_(8352107_?)dup
NC_000020.10:g.(?_8113299)_(8352117_?)del
NC_000020.10:g.(?_8113299)_(8352117_?)dup
NC_000020.10:g.(?_8608921)_(8609098_?)del
NC_000020.10:g.(?_8608921)_(8862496_?)dup
NC_000020.10:g.(?_8608931)_(8639361_?)del
NC_000020.10:g.(?_8630001)_(8637951_?)del
NC_000020.10:g.(?_8639165)_(8698515_?)del
NC_000020.10:g.(?_8661338)_(8678351_?)del
NC_000020.10:g.(?_8665559)_(8770928_?)dup
NC_000020.10:g.(?_8696891)_(8698515_?)del
NC_000020.10:g.(?_8696891)_(8862496_?)dup
NC_000020.10:g.(?_8782683)_(8862516_?)dup
NC_000020.10:g.(?_8862249)_(8862516_?)dup
NC_000020.11:g.(?_8371362)_(8371470_?)del
NC_000020.11:g.(?_8646082)_(8881869_?)dup
NC_000020.11:g.(?_8684912)_(8685098_?)del
NC_000020.11:g.(?_8684912)_(8881869_?)dup
NC_000020.11:g.(?_8757026)_(8881869_?)dup
NC_000020.11:g.8722354_8722356del rs1979690177
NM_007254.4(PNKP):c.1001C>T (p.Ala334Val) rs571217111
NM_007254.4(PNKP):c.1003_1016del (p.Gly335fs) rs1131691883
NM_007254.4(PNKP):c.1006T>G (p.Phe336Val) rs747297456
NM_007254.4(PNKP):c.1011G>A (p.Glu337=)
NM_007254.4(PNKP):c.1014C>T (p.Leu338=)
NM_007254.4(PNKP):c.1017A>T (p.Pro339=)
NM_007254.4(PNKP):c.1029+15C>G
NM_007254.4(PNKP):c.1029+19G>A
NM_007254.4(PNKP):c.1029+20G>C rs1239545577
NM_007254.4(PNKP):c.1029+3G>A rs1304920403
NM_007254.4(PNKP):c.1029G>A (p.Pro343=) rs796052853
NM_007254.4(PNKP):c.1030-12C>A
NM_007254.4(PNKP):c.1030-12C>G
NM_007254.4(PNKP):c.1030-12del rs1398388252
NM_007254.4(PNKP):c.1030-15C>T rs2122325717
NM_007254.4(PNKP):c.1030-16C>A
NM_007254.4(PNKP):c.1030-16C>G
NM_007254.4(PNKP):c.1030-16C>T rs772191471
NM_007254.4(PNKP):c.1030-22_1041dup rs2122325507
NM_007254.4(PNKP):c.1030-8C>G
NM_007254.4(PNKP):c.103A>C (p.Arg35=)
NM_007254.4(PNKP):c.1041C>T (p.Ser347=)
NM_007254.4(PNKP):c.1043G>A (p.Arg348His) rs781551273
NM_007254.4(PNKP):c.1044C>G (p.Arg348=) rs932293072
NM_007254.4(PNKP):c.1044_1065dup (p.Glu356fs) rs2074777487
NM_007254.4(PNKP):c.1047A>T (p.Ser349=)
NM_007254.4(PNKP):c.1049G>A (p.Gly350Glu) rs2122325421
NM_007254.4(PNKP):c.1050G>T (p.Gly350=) rs1194208521
NM_007254.4(PNKP):c.1059C>A (p.Cys353Ter) rs1337771339
NM_007254.4(PNKP):c.1065C>G (p.Pro355=)
NM_007254.4(PNKP):c.1065C>T (p.Pro355=) rs569834947
NM_007254.4(PNKP):c.1065_1081del (p.Ser357fs) rs1366190965
NM_007254.4(PNKP):c.1065del (p.Glu356fs)
NM_007254.4(PNKP):c.1066G>A (p.Glu356Lys) rs1170743406
NM_007254.4(PNKP):c.1069T>C (p.Ser357Pro)
NM_007254.4(PNKP):c.1070C>T (p.Ser357Phe) rs1359253510
NM_007254.4(PNKP):c.1073G>A (p.Arg358Lys) rs1600417301
NM_007254.4(PNKP):c.1074_1085del (p.Arg358_Leu361del) rs796052865
NM_007254.4(PNKP):c.107G>A (p.Gly36Glu) rs756589726
NM_007254.4(PNKP):c.107G>C (p.Gly36Ala) rs756589726
NM_007254.4(PNKP):c.107G>T (p.Gly36Val) rs756589726
NM_007254.4(PNKP):c.1091G>A (p.Ser364Asn) rs1473117442
NM_007254.4(PNKP):c.1098G>C (p.Glu366Asp) rs755340060
NM_007254.4(PNKP):c.1110A>G (p.Ala370=) rs753408018
NM_007254.4(PNKP):c.1113G>A (p.Val371=) rs1409679685
NM_007254.4(PNKP):c.111C>A (p.Pro37=) rs781573473
NM_007254.4(PNKP):c.1125G>T (p.Gly375=) rs727504101
NM_007254.4(PNKP):c.1126+15C>T rs748643212
NM_007254.4(PNKP):c.1126+16C>T
NM_007254.4(PNKP):c.1126+1G>C
NM_007254.4(PNKP):c.1126+1del
NM_007254.4(PNKP):c.1126+4A>G rs2122324733
NM_007254.4(PNKP):c.1126+5G>C rs1385764453
NM_007254.4(PNKP):c.1126+9C>G rs3739202
NM_007254.4(PNKP):c.1127-10C>A rs747464508
NM_007254.4(PNKP):c.1127-19G>A
NM_007254.4(PNKP):c.1127-19G>C
NM_007254.4(PNKP):c.1127-19G>T rs776536622
NM_007254.4(PNKP):c.1127-20C>T
NM_007254.4(PNKP):c.1127-3C>T
NM_007254.4(PNKP):c.1127-7C>A
NM_007254.4(PNKP):c.1127-7dup rs757518270
NM_007254.4(PNKP):c.1127-9C>A
NM_007254.4(PNKP):c.1128C>T (p.Ala376=)
NM_007254.4(PNKP):c.112del (p.Pro37_Leu38insTer)
NM_007254.4(PNKP):c.1134G>A (p.Lys378=)
NM_007254.4(PNKP):c.113del (p.Leu38fs)
NM_007254.4(PNKP):c.1144C>G (p.Leu382Val) rs754921430
NM_007254.4(PNKP):c.1146C>G (p.Leu382=) rs751483948
NM_007254.4(PNKP):c.1155C>T (p.His385=) rs758168476
NM_007254.4(PNKP):c.1161G>A (p.Val387=)
NM_007254.4(PNKP):c.1164G>T (p.Ser388=) rs776788871
NM_007254.4(PNKP):c.1165G>A (p.Ala389Thr) rs575803996
NM_007254.4(PNKP):c.1165G>T (p.Ala389Ser) rs575803996
NM_007254.4(PNKP):c.1179C>T (p.His393=)
NM_007254.4(PNKP):c.1188+11_1188+13del
NM_007254.4(PNKP):c.1188+12C>G
NM_007254.4(PNKP):c.1188+16T>A rs1254862884
NM_007254.4(PNKP):c.1188+5G>A
NM_007254.4(PNKP):c.1188+7C>T rs2122323745
NM_007254.4(PNKP):c.1188+8del rs763782151
NM_007254.4(PNKP):c.1189-13C>G
NM_007254.4(PNKP):c.1189-13C>T
NM_007254.4(PNKP):c.1189-16C>T
NM_007254.4(PNKP):c.1189-22_1189-19del rs368832563
NM_007254.4(PNKP):c.1189-46_1189-10del
NM_007254.4(PNKP):c.1189-5C>A rs752826211
NM_007254.4(PNKP):c.1203_1291del (p.Trp402fs) rs1568659036
NM_007254.4(PNKP):c.1206G>A (p.Trp402Ter)
NM_007254.4(PNKP):c.1215T>C (p.Cys405=) rs2122321900
NM_007254.4(PNKP):c.1218G>C (p.Val406=)
NM_007254.4(PNKP):c.121G>C (p.Val41Leu) rs2074826079
NM_007254.4(PNKP):c.1221_1223del (p.Thr408del) rs786205207
NM_007254.4(PNKP):c.1223C>A (p.Thr408Lys) rs774130130
NM_007254.4(PNKP):c.1226G>T (p.Cys409Phe) rs2074769803
NM_007254.4(PNKP):c.1236C>T (p.Ala412=) rs1060504641
NM_007254.4(PNKP):c.1237C>T (p.Leu413=) rs2074769563
NM_007254.4(PNKP):c.124A>G (p.Thr42Ala) rs2074826042
NM_007254.4(PNKP):c.1253_1269dup (p.Thr424fs) rs587784365
NM_007254.4(PNKP):c.1258G>A (p.Ala420Thr) rs754981151
NM_007254.4(PNKP):c.1263C>A (p.Ile421=) rs758836805
NM_007254.4(PNKP):c.1263C>G (p.Ile421Met)
NM_007254.4(PNKP):c.1263C>T (p.Ile421=) rs758836805
NM_007254.4(PNKP):c.1264G>C (p.Asp422His)
NM_007254.4(PNKP):c.1264_1271del (p.Asp422fs)
NM_007254.4(PNKP):c.1265_1289dup (p.Ser430fs)
NM_007254.4(PNKP):c.126G>A (p.Thr42=)
NM_007254.4(PNKP):c.126G>C (p.Thr42=)
NM_007254.4(PNKP):c.1270_1281dup (p.Thr424_Asp427dup) rs1258095629
NM_007254.4(PNKP):c.1270_1283dup (p.Ala429fs) rs746413622
NM_007254.4(PNKP):c.1276C>G (p.Pro426Ala)
NM_007254.4(PNKP):c.1278_1291del (p.Asp427fs) rs764379536
NM_007254.4(PNKP):c.1282G>T (p.Ala428Ser) rs1568659088
NM_007254.4(PNKP):c.1283_1296del (p.Ala428fs)
NM_007254.4(PNKP):c.1284C>A (p.Ala428=) rs749177501
NM_007254.4(PNKP):c.1284C>G (p.Ala428=) rs749177501
NM_007254.4(PNKP):c.1284C>T (p.Ala428=) rs749177501
NM_007254.4(PNKP):c.1285G>T (p.Ala429Ser) rs148386689
NM_007254.4(PNKP):c.1285_1286delinsCT (p.Ala429Leu) rs1568659063
NM_007254.4(PNKP):c.1286C>A (p.Ala429Glu) rs769707108
NM_007254.4(PNKP):c.1286_1298+6dup rs760249644
NM_007254.4(PNKP):c.1288_1294del (p.Ser430fs) rs796052860
NM_007254.4(PNKP):c.1288_1294dup (p.Ala432fs) rs796052860
NM_007254.4(PNKP):c.1288_1298+6dup rs1555810844
NM_007254.4(PNKP):c.1289G>A (p.Ser430Asn)
NM_007254.4(PNKP):c.1290_1298+6dup
NM_007254.4(PNKP):c.1291_1298+5dup rs1568658937
NM_007254.4(PNKP):c.1293C>A (p.Arg431=) rs143390809
NM_007254.4(PNKP):c.1295_1298+6del rs587784366
NM_007254.4(PNKP):c.1295_1298+6dup
NM_007254.4(PNKP):c.1296C>G (p.Ala432=)
NM_007254.4(PNKP):c.1296_1297insCCC (p.Ala432_Arg433insPro)
NM_007254.4(PNKP):c.1296_1298+13del
NM_007254.4(PNKP):c.1298+12G>A rs747065246
NM_007254.4(PNKP):c.1298+12G>T rs747065246
NM_007254.4(PNKP):c.1298+13C>T
NM_007254.4(PNKP):c.1298+16_1298+17insCGCGGGTCA
NM_007254.4(PNKP):c.1298+18C>T rs964341783
NM_007254.4(PNKP):c.1298+19dup rs1298736755
NM_007254.4(PNKP):c.1298+1G>A rs149614720
NM_007254.4(PNKP):c.1298+20G>A rs765634741
NM_007254.4(PNKP):c.1298+7_1298+12dup
NM_007254.4(PNKP):c.1299-12C>T
NM_007254.4(PNKP):c.1299-13C>G rs761732328
NM_007254.4(PNKP):c.1299-1G>A
NM_007254.4(PNKP):c.1299-2A>G rs2122319491
NM_007254.4(PNKP):c.1299-9C>A rs1055654261
NM_007254.4(PNKP):c.1299-9_1299-8delinsTT rs1064794370
NM_007254.4(PNKP):c.1303_1305del (p.Val435del) rs2074764505
NM_007254.4(PNKP):c.1304T>C (p.Val435Ala)
NM_007254.4(PNKP):c.1305C>G (p.Val435=)
NM_007254.4(PNKP):c.1311T>A (p.Cys437Ter) rs1309576866
NM_007254.4(PNKP):c.1314_1315del (p.Arg439fs)
NM_007254.4(PNKP):c.1314_1322dup (p.Arg439_Ala441dup) rs2122319196
NM_007254.4(PNKP):c.1315C>G (p.Arg439Gly) rs539286945
NM_007254.4(PNKP):c.1316_1317delinsTT (p.Arg439Leu) rs2074764098
NM_007254.4(PNKP):c.1317_1321dup (p.Ala441fs) rs796052862
NM_007254.4(PNKP):c.1319C>G (p.Ala440Gly) rs377688490
NM_007254.4(PNKP):c.131G>A (p.Arg44Gln) rs1568663138
NM_007254.4(PNKP):c.1320C>G (p.Ala440=) rs565533397
NM_007254.4(PNKP):c.1320C>T (p.Ala440=) rs565533397
NM_007254.4(PNKP):c.1321G>A (p.Ala441Thr) rs1351594110
NM_007254.4(PNKP):c.1322C>T (p.Ala441Val) rs549000007
NM_007254.4(PNKP):c.1323G>T (p.Ala441=)
NM_007254.4(PNKP):c.1325G>A (p.Gly442Asp) rs1360064159
NM_007254.4(PNKP):c.1326C>T (p.Gly442=) rs1159488769
NM_007254.4(PNKP):c.1327G>T (p.Val443Phe) rs1421167718
NM_007254.4(PNKP):c.1332C>G (p.Pro444=)
NM_007254.4(PNKP):c.1332C>T (p.Pro444=) rs1354256517
NM_007254.4(PNKP):c.1333del (p.Cys445fs)
NM_007254.4(PNKP):c.1336C>T (p.Arg446Cys) rs1271713057
NM_007254.4(PNKP):c.1337_1342del (p.Arg446_Phe448delinsLeu) rs2122318958
NM_007254.4(PNKP):c.1338C>G (p.Arg446=) rs1487681927
NM_007254.4(PNKP):c.1358C>A (p.Thr453Asn) rs1455514180
NM_007254.4(PNKP):c.135G>A (p.Lys45=)
NM_007254.4(PNKP):c.1360C>A (p.Leu454Met) rs200611702
NM_007254.4(PNKP):c.1360C>G (p.Leu454Val) rs200611702
NM_007254.4(PNKP):c.1360C>T (p.Leu454=)
NM_007254.4(PNKP):c.1363G>A (p.Glu455Lys) rs2122318761
NM_007254.4(PNKP):c.1367A>G (p.Gln456Arg)
NM_007254.4(PNKP):c.1371G>A (p.Ala457=) rs1477817574
NM_007254.4(PNKP):c.1378AAC[1] (p.Asn461del) rs796052863
NM_007254.4(PNKP):c.1381A>C (p.Asn461His) rs775762473
NM_007254.4(PNKP):c.1381A>G (p.Asn461Asp) rs775762473
NM_007254.4(PNKP):c.1385G>A (p.Arg462Gln) rs376854895
NM_007254.4(PNKP):c.1385G>C (p.Arg462Pro) rs376854895
NM_007254.4(PNKP):c.1386+15C>T
NM_007254.4(PNKP):c.1386+19G>A
NM_007254.4(PNKP):c.1386+1G>C rs1057520630
NM_007254.4(PNKP):c.1386+40C>G
NM_007254.4(PNKP):c.1386+41C>G
NM_007254.4(PNKP):c.1386+45C>T
NM_007254.4(PNKP):c.1386+46C>G rs767727372
NM_007254.4(PNKP):c.1386+49_1387-33del rs752902474
NM_007254.4(PNKP):c.1386+8C>T rs2074762037
NM_007254.4(PNKP):c.1386+9G>T
NM_007254.4(PNKP):c.1387-14G>A
NM_007254.4(PNKP):c.1387-35C>T
NM_007254.4(PNKP):c.1387-36C>A
NM_007254.4(PNKP):c.1387-36C>T rs748550221
NM_007254.4(PNKP):c.1387-3C>A rs1470343514
NM_007254.4(PNKP):c.1387-3C>T
NM_007254.4(PNKP):c.1387-3_1387-2del rs760066611
NM_007254.4(PNKP):c.1387-43C>T
NM_007254.4(PNKP):c.1387-47del
NM_007254.4(PNKP):c.1387-48del rs770848795
NM_007254.4(PNKP):c.1387-48dup rs770848795
NM_007254.4(PNKP):c.1387-5del rs1238643725
NM_007254.4(PNKP):c.1387-5dup rs1238643725
NM_007254.4(PNKP):c.1387-7C>T rs1060504642
NM_007254.4(PNKP):c.1390C>T (p.Arg464Ter) rs138249970
NM_007254.4(PNKP):c.1391G>C (p.Arg464Pro) rs377619541
NM_007254.4(PNKP):c.1391G>T (p.Arg464Leu)
NM_007254.4(PNKP):c.1395G>A (p.Glu465=)
NM_007254.4(PNKP):c.1395_1396del (p.Glu465fs) rs1413085852
NM_007254.4(PNKP):c.1395_1399dup (p.Thr467delinsArgTer) rs1443873131
NM_007254.4(PNKP):c.1400C>A (p.Thr467Lys) rs769109631
NM_007254.4(PNKP):c.1402G>A (p.Asp468Asn) rs778647353
NM_007254.4(PNKP):c.1403_1406dup (p.Ser470fs)
NM_007254.4(PNKP):c.1409C>G (p.Ser470Cys)
NM_007254.4(PNKP):c.1409C>T (p.Ser470Phe) rs1231560062
NM_007254.4(PNKP):c.1412A>C (p.His471Pro) rs142032281
NM_007254.4(PNKP):c.1422G>A (p.Val474=) rs1017330396
NM_007254.4(PNKP):c.1422G>C (p.Val474=)
NM_007254.4(PNKP):c.1422_1423del (p.Ser475fs) rs2074757362
NM_007254.4(PNKP):c.1424C>T (p.Ser475Leu) rs1600414629
NM_007254.4(PNKP):c.1428C>T (p.Asp476=)
NM_007254.4(PNKP):c.1435A>G (p.Met479Val) rs1264163330
NM_007254.4(PNKP):c.1436T>C (p.Met479Thr)
NM_007254.4(PNKP):c.1440T>G (p.Tyr480Ter) rs2074756863
NM_007254.4(PNKP):c.1448+10G>A rs2074756487
NM_007254.4(PNKP):c.1448+11G>T
NM_007254.4(PNKP):c.1448+14T>C
NM_007254.4(PNKP):c.1448+2T>A rs1600414549
NM_007254.4(PNKP):c.1448+5_1448+8dup
NM_007254.4(PNKP):c.1449-11_1449-10del rs1568658026
NM_007254.4(PNKP):c.1449-12C>T
NM_007254.4(PNKP):c.1449-13C>T
NM_007254.4(PNKP):c.1449-14_1449-13delinsTT
NM_007254.4(PNKP):c.1449-5G>A
NM_007254.4(PNKP):c.1449-5G>T rs1030404078
NM_007254.4(PNKP):c.1449-8_1449-6del
NM_007254.4(PNKP):c.1449-9C>T
NM_007254.4(PNKP):c.1459G>A (p.Glu487Lys)
NM_007254.4(PNKP):c.1464C>T (p.Ala488=)
NM_007254.4(PNKP):c.1469C>T (p.Thr490Met) rs2122316177
NM_007254.4(PNKP):c.1480G>A (p.Gly494Ser)
NM_007254.4(PNKP):c.1480G>T (p.Gly494Cys) rs753976364
NM_007254.4(PNKP):c.1481_1500dup (p.Ile501fs)
NM_007254.4(PNKP):c.1482C>A (p.Gly494=) rs60279874
NM_007254.4(PNKP):c.1482C>G (p.Gly494=)
NM_007254.4(PNKP):c.1494C>G (p.Ile498Met) rs368390840
NM_007254.4(PNKP):c.1494C>T (p.Ile498=) rs368390840
NM_007254.4(PNKP):c.1497G>T (p.Leu499=)
NM_007254.4(PNKP):c.1499A>G (p.Glu500Gly) rs2074753789
NM_007254.4(PNKP):c.1500G>A (p.Glu500=) rs1381051164
NM_007254.4(PNKP):c.1503C>G (p.Ile501Met) rs1293393287
NM_007254.4(PNKP):c.1505C>T (p.Pro502Leu) rs776190168
NM_007254.4(PNKP):c.151+10G>T rs752454809
NM_007254.4(PNKP):c.151+6C>A
NM_007254.4(PNKP):c.151+9G>A rs1334243225
NM_007254.4(PNKP):c.1510C>A (p.Arg504=) rs148669160
NM_007254.4(PNKP):c.1510C>G (p.Arg504Gly) rs148669160
NM_007254.4(PNKP):c.1510C>T (p.Arg504Trp) rs148669160
NM_007254.4(PNKP):c.1510del (p.Arg504fs) rs771489173
NM_007254.4(PNKP):c.1512G>C (p.Arg504=) rs2074753438
NM_007254.4(PNKP):c.1512G>T (p.Arg504=)
NM_007254.4(PNKP):c.1516T>C (p.Trp506Arg) rs2074753341
NM_007254.4(PNKP):c.1518G>C (p.Trp506Cys) rs2122315682
NM_007254.4(PNKP):c.152-13C>T
NM_007254.4(PNKP):c.152-17A>C
NM_007254.4(PNKP):c.152-2A>C
NM_007254.4(PNKP):c.1521G>A (p.Val507=) rs2122315651
NM_007254.4(PNKP):c.1527G>T (p.Pro509=) rs144086713
NM_007254.4(PNKP):c.1531C>T (p.Leu511=) rs1423615371
NM_007254.4(PNKP):c.1534G>A (p.Gly512Arg)
NM_007254.4(PNKP):c.1534G>C (p.Gly512Arg) rs2074752931
NM_007254.4(PNKP):c.1535G>C (p.Gly512Ala)
NM_007254.4(PNKP):c.1536G>A (p.Gly512=) rs766717633
NM_007254.4(PNKP):c.1539G>A (p.Arg513=) rs776243333
NM_007254.4(PNKP):c.153G>A (p.Val51=) rs2074821167
NM_007254.4(PNKP):c.1541_1548dup (p.Gln517fs) rs1279136929
NM_007254.4(PNKP):c.1543dup (p.Tyr515fs) rs2122315348
NM_007254.4(PNKP):c.1545C>T (p.Tyr515=) rs760131892
NM_007254.4(PNKP):c.1548C>G (p.Cys516Trp) rs745579629
NM_007254.4(PNKP):c.1550A>T (p.Gln517Leu)
NM_007254.4(PNKP):c.1552T>C (p.Phe518Leu) rs979727253
NM_007254.4(PNKP):c.1553T>A (p.Phe518Tyr)
NM_007254.4(PNKP):c.1557C>G (p.Ser519=) rs142180374
NM_007254.4(PNKP):c.1558G>A (p.Glu520Lys) rs770823063
NM_007254.4(PNKP):c.1560G>A (p.Glu520=)
NM_007254.4(PNKP):c.1566A>G (p.Ter522Trp) rs2122315087
NM_007254.4(PNKP):c.15G>A (p.Glu5=)
NM_007254.4(PNKP):c.161T>A (p.Val54Asp) rs2074821139
NM_007254.4(PNKP):c.176C>T (p.Thr59Ile)
NM_007254.4(PNKP):c.178C>T (p.Arg60Trp) rs761948305
NM_007254.4(PNKP):c.191T>G (p.Val64Gly) rs1600422789
NM_007254.4(PNKP):c.198+13C>G
NM_007254.4(PNKP):c.198+13C>T
NM_007254.4(PNKP):c.198+15G>A
NM_007254.4(PNKP):c.198+19G>C rs533017953
NM_007254.4(PNKP):c.198+7G>T rs2122342848
NM_007254.4(PNKP):c.198+9G>T
NM_007254.4(PNKP):c.199-14C>T
NM_007254.4(PNKP):c.199-14CT[2] rs749292876
NM_007254.4(PNKP):c.199-2A>G rs1391913873
NM_007254.4(PNKP):c.199-8_199-5del rs751037387
NM_007254.4(PNKP):c.200T>G (p.Leu67Arg) rs747002499
NM_007254.4(PNKP):c.222C>T (p.Thr74=)
NM_007254.4(PNKP):c.224G>T (p.Gly75Val) rs2074810870
NM_007254.4(PNKP):c.227C>T (p.Thr76Ile) rs1600421787
NM_007254.4(PNKP):c.234G>A (p.Glu78=) rs2122339283
NM_007254.4(PNKP):c.241C>T (p.Pro81Ser) rs1231251848
NM_007254.4(PNKP):c.251A>C (p.Glu84Ala) rs2074810716
NM_007254.4(PNKP):c.258T>C (p.Ser86=) rs375826483
NM_007254.4(PNKP):c.266T>C (p.Val89Ala)
NM_007254.4(PNKP):c.26_27delinsTT (p.Arg9Leu) rs2074827288
NM_007254.4(PNKP):c.270G>A (p.Gly90=)
NM_007254.4(PNKP):c.277C>G (p.Leu93Val)
NM_007254.4(PNKP):c.27C>T (p.Arg9=)
NM_007254.4(PNKP):c.28T>C (p.Leu10=)
NM_007254.4(PNKP):c.291T>C (p.Asn97=) rs1555811608
NM_007254.4(PNKP):c.294C>T (p.Gly98=) rs1197822719
NM_007254.4(PNKP):c.298dup (p.His100fs)
NM_007254.4(PNKP):c.300C>T (p.His100=)
NM_007254.4(PNKP):c.30G>T (p.Leu10Phe) rs376146751
NM_007254.4(PNKP):c.314G>T (p.Arg105Leu)
NM_007254.4(PNKP):c.321A>G (p.Glu107=) rs2122338975
NM_007254.4(PNKP):c.322G>A (p.Glu108Lys)
NM_007254.4(PNKP):c.325A>T (p.Thr109Ser) rs979192418
NM_007254.4(PNKP):c.331A>G (p.Thr111Ala) rs1239561285
NM_007254.4(PNKP):c.331A>T (p.Thr111Ser) rs1239561285
NM_007254.4(PNKP):c.332C>T (p.Thr111Ile) rs756223253
NM_007254.4(PNKP):c.336A>G (p.Pro112=) rs2122338877
NM_007254.4(PNKP):c.33G>T (p.Trp11Cys) rs577282123
NM_007254.4(PNKP):c.349G>C (p.Asp117His)
NM_007254.4(PNKP):c.357G>C (p.Pro119=) rs766826936
NM_007254.4(PNKP):c.357G>T (p.Pro119=)
NM_007254.4(PNKP):c.365C>T (p.Thr122Ile)
NM_007254.4(PNKP):c.368C>A (p.Pro123His)
NM_007254.4(PNKP):c.36C>G (p.Leu12=) rs1197600061
NM_007254.4(PNKP):c.36del (p.Glu13fs)
NM_007254.4(PNKP):c.374T>C (p.Val125Ala)
NM_007254.4(PNKP):c.378C>T (p.Ser126=) rs2122338751
NM_007254.4(PNKP):c.381A>G (p.Gln127=) rs139679798
NM_007254.4(PNKP):c.386AGA[1] (p.Lys130del)
NM_007254.4(PNKP):c.394G>C (p.Asp132His) rs1555811583
NM_007254.4(PNKP):c.394_395del (p.Asp132fs)
NM_007254.4(PNKP):c.406C>G (p.Pro136Ala) rs759530456
NM_007254.4(PNKP):c.407C>G (p.Pro136Arg)
NM_007254.4(PNKP):c.407_421dup (p.Pro136_Met140dup) rs2074809327
NM_007254.4(PNKP):c.408G>A (p.Pro136=) rs770822417
NM_007254.4(PNKP):c.408G>C (p.Pro136=) rs770822417
NM_007254.4(PNKP):c.417T>A (p.Arg139=) rs1060504643
NM_007254.4(PNKP):c.41G>A (p.Ser14Asn) rs749769775
NM_007254.4(PNKP):c.421C>T (p.Arg141Trp) rs755037999
NM_007254.4(PNKP):c.429A>C (p.Ser143=)
NM_007254.4(PNKP):c.42C>A (p.Ser14Arg) rs751327913
NM_007254.4(PNKP):c.42C>T (p.Ser14=) rs751327913
NM_007254.4(PNKP):c.430A>G (p.Asn144Asp) rs551774481
NM_007254.4(PNKP):c.432C>A (p.Asn144Lys) rs367883177
NM_007254.4(PNKP):c.432C>T (p.Asn144=)
NM_007254.4(PNKP):c.438C>G (p.Gly146=)
NM_007254.4(PNKP):c.444G>A (p.Glu148=) rs2122338483
NM_007254.4(PNKP):c.446A>G (p.Asn149Ser)
NM_007254.4(PNKP):c.460C>T (p.Leu154=) rs933383603
NM_007254.4(PNKP):c.469A>G (p.Thr157Ala) rs376383779
NM_007254.4(PNKP):c.47C>T (p.Pro16Leu)
NM_007254.4(PNKP):c.47del (p.Pro16fs) rs1246416070
NM_007254.4(PNKP):c.480G>C (p.Gly160=) rs1600421459
NM_007254.4(PNKP):c.48T>A (p.Pro16=)
NM_007254.4(PNKP):c.495C>G (p.Gly165=)
NM_007254.4(PNKP):c.496A>C (p.Lys166Gln) rs2074808568
NM_007254.4(PNKP):c.498+14C>T
NM_007254.4(PNKP):c.498+3G>T rs2074808518
NM_007254.4(PNKP):c.498G>T (p.Lys166Asn) rs141251138
NM_007254.4(PNKP):c.499-18_499-17insTCCTTGGTGTCACCTG rs753093330
NM_007254.4(PNKP):c.499-19C>T rs868590428
NM_007254.4(PNKP):c.499-4C>A
NM_007254.4(PNKP):c.499-9T>C
NM_007254.4(PNKP):c.513T>G (p.Asp171Glu) rs929865929
NM_007254.4(PNKP):c.51G>A (p.Gly17=)
NM_007254.4(PNKP):c.524C>T (p.Thr175Met) rs2074802994
NM_007254.4(PNKP):c.527T>C (p.Leu176Pro)
NM_007254.4(PNKP):c.528C>T (p.Leu176=)
NM_007254.4(PNKP):c.538C>A (p.Arg180Ser) rs3739185
NM_007254.4(PNKP):c.538C>T (p.Arg180Cys) rs3739185
NM_007254.4(PNKP):c.539G>A (p.Arg180His) rs779492301
NM_007254.4(PNKP):c.539G>C (p.Arg180Pro) rs779492301
NM_007254.4(PNKP):c.544G>A (p.Gly182Arg) rs2074802768
NM_007254.4(PNKP):c.54A>G (p.Gly18=)
NM_007254.4(PNKP):c.576G>C (p.Trp192Cys)
NM_007254.4(PNKP):c.578+11G>A
NM_007254.4(PNKP):c.578+11G>T
NM_007254.4(PNKP):c.578+18_578+21del
NM_007254.4(PNKP):c.578+8G>A rs1434825029
NM_007254.4(PNKP):c.578+8G>C
NM_007254.4(PNKP):c.579-11del
NM_007254.4(PNKP):c.579-6C>T
NM_007254.4(PNKP):c.579-9C>A rs955732346
NM_007254.4(PNKP):c.579-9C>G rs955732346
NM_007254.4(PNKP):c.579-9C>T
NM_007254.4(PNKP):c.580A>C (p.Ile194Leu) rs1600420665
NM_007254.4(PNKP):c.582C>T (p.Ile194=)
NM_007254.4(PNKP):c.584T>C (p.Leu195Ser)
NM_007254.4(PNKP):c.587A>T (p.Tyr196Phe) rs138931842
NM_007254.4(PNKP):c.589C>A (p.Pro197Thr) rs201968000
NM_007254.4(PNKP):c.58C>A (p.Pro20Thr) rs3739168
NM_007254.4(PNKP):c.591A>G (p.Pro197=)
NM_007254.4(PNKP):c.593A>C (p.Glu198Ala)
NM_007254.4(PNKP):c.598C>A (p.Pro200Thr) rs1555811465
NM_007254.4(PNKP):c.606G>A (p.Lys202=) rs767378244
NM_007254.4(PNKP):c.609C>G (p.Leu203=)
NM_007254.4(PNKP):c.610C>G (p.Arg204Gly)
NM_007254.4(PNKP):c.612A>G (p.Arg204=) rs1207529903
NM_007254.4(PNKP):c.61C>T (p.Pro21Ser)
NM_007254.4(PNKP):c.622G>C (p.Ala208Pro)
NM_007254.4(PNKP):c.632A>G (p.Tyr211Cys) rs1600420551
NM_007254.4(PNKP):c.636+14C>G rs2122335161
NM_007254.4(PNKP):c.636+15C>G rs773988123
NM_007254.4(PNKP):c.636+1G>C rs1247055716
NM_007254.4(PNKP):c.636+6_636+7del
NM_007254.4(PNKP):c.637-13del rs754413273
NM_007254.4(PNKP):c.637-14C>A
NM_007254.4(PNKP):c.637-14C>G
NM_007254.4(PNKP):c.637-14C>T
NM_007254.4(PNKP):c.637-3C>T rs2074800259
NM_007254.4(PNKP):c.639G>T (p.Leu213=)
NM_007254.4(PNKP):c.63del (p.Ile22fs) rs1568663209
NM_007254.4(PNKP):c.63dup (p.Ile22fs) rs1568663209
NM_007254.4(PNKP):c.645C>A (p.Ile215=)
NM_007254.4(PNKP):c.663C>T (p.Ser221=) rs1376565938
NM_007254.4(PNKP):c.666C>G (p.Ile222Met) rs587784369
NM_007254.4(PNKP):c.666C>T (p.Ile222=) rs587784369
NM_007254.4(PNKP):c.673G>C (p.Gly225Arg)
NM_007254.4(PNKP):c.681G>C (p.Leu227=)
NM_007254.4(PNKP):c.683C>T (p.Pro228Leu) rs2122334512
NM_007254.4(PNKP):c.688GAG[1] (p.Glu231del)
NM_007254.4(PNKP):c.69C>T (p.Phe23=) rs2122345008
NM_007254.4(PNKP):c.6C>T (p.Gly2=)
NM_007254.4(PNKP):c.703A>G (p.Lys235Glu) rs2122334434
NM_007254.4(PNKP):c.705G>A (p.Lys235=)
NM_007254.4(PNKP):c.721G>T (p.Glu241Ter) rs982113263
NM_007254.4(PNKP):c.721_723del (p.Glu241del) rs2122334363
NM_007254.4(PNKP):c.731G>A (p.Gly244Glu) rs777786941
NM_007254.4(PNKP):c.731G>T (p.Gly244Val)
NM_007254.4(PNKP):c.737C>A (p.Pro246His)
NM_007254.4(PNKP):c.744+13G>A
NM_007254.4(PNKP):c.744+18G>A
NM_007254.4(PNKP):c.744+1G>C
NM_007254.4(PNKP):c.744+3A>G
NM_007254.4(PNKP):c.745-17C>G
NM_007254.4(PNKP):c.745-7_745-6delinsAA
NM_007254.4(PNKP):c.745-9C>T rs1555811381
NM_007254.4(PNKP):c.755C>T (p.Ala252Val) rs2122333454
NM_007254.4(PNKP):c.756_760del (p.Thr253fs) rs2122333424
NM_007254.4(PNKP):c.762_765del (p.His254fs)
NM_007254.4(PNKP):c.765A>C (p.Ala255=)
NM_007254.4(PNKP):c.775C>T (p.Arg259Trp) rs368301643
NM_007254.4(PNKP):c.793A>G (p.Met265Val)
NM_007254.4(PNKP):c.7G>A (p.Glu3Lys)
NM_007254.4(PNKP):c.801C>T (p.Asp267=)
NM_007254.4(PNKP):c.807G>A (p.Leu269=)
NM_007254.4(PNKP):c.808C>T (p.Gln270Ter) rs965965834
NM_007254.4(PNKP):c.816+3G>A rs763767031
NM_007254.4(PNKP):c.816+4_816+22del rs2122333064
NM_007254.4(PNKP):c.816+8_816+11dup
NM_007254.4(PNKP):c.817-15T>C
NM_007254.4(PNKP):c.817-16C>T rs751500600
NM_007254.4(PNKP):c.817-17A>C
NM_007254.4(PNKP):c.817-17A>G rs759404435
NM_007254.4(PNKP):c.817-20_817-18del
NM_007254.4(PNKP):c.817-3T>C rs2074787691
NM_007254.4(PNKP):c.817-4G>C
NM_007254.4(PNKP):c.817-4G>T rs377241372
NM_007254.4(PNKP):c.817-5del rs767881542
NM_007254.4(PNKP):c.817-6C>T rs1438851811
NM_007254.4(PNKP):c.81C>T (p.Asp27=) rs1226961947
NM_007254.4(PNKP):c.820A>G (p.Asn274Asp) rs1463305699
NM_007254.4(PNKP):c.820_825del (p.Asn274_Asp275del) rs1600418728
NM_007254.4(PNKP):c.821_841del (p.Asn274_Ser280del) rs1555811217
NM_007254.4(PNKP):c.823G>T (p.Asp275Tyr)
NM_007254.4(PNKP):c.825C>G (p.Asp275Glu) rs2074787530
NM_007254.4(PNKP):c.826G>A (p.Gly276Ser) rs746254179
NM_007254.4(PNKP):c.826G>C (p.Gly276Arg) rs746254179
NM_007254.4(PNKP):c.827G>A (p.Gly276Asp)
NM_007254.4(PNKP):c.828C>T (p.Gly276=)
NM_007254.4(PNKP):c.831_832delinsCT (p.Pro278Ser)
NM_007254.4(PNKP):c.840C>T (p.Ser280=) rs754505243
NM_007254.4(PNKP):c.843C>T (p.Ile281=)
NM_007254.4(PNKP):c.847del (p.Asp283fs) rs2122329109
NM_007254.4(PNKP):c.853A>T (p.Ile285Phe) rs750224965
NM_007254.4(PNKP):c.865+10T>C
NM_007254.4(PNKP):c.865+11G>C
NM_007254.4(PNKP):c.865+17T>C
NM_007254.4(PNKP):c.865+1G>T
NM_007254.4(PNKP):c.865+8C>T
NM_007254.4(PNKP):c.865+9C>T rs1555811201
NM_007254.4(PNKP):c.865+9del rs2122329016
NM_007254.4(PNKP):c.866-14C>G
NM_007254.4(PNKP):c.866-18G>A
NM_007254.4(PNKP):c.867C>T (p.Asp289=) rs771239062
NM_007254.4(PNKP):c.873C>A (p.Ala291=) rs749641401
NM_007254.4(PNKP):c.882G>A (p.Pro294=) rs745849196
NM_007254.4(PNKP):c.882G>T (p.Pro294=)
NM_007254.4(PNKP):c.884C>G (p.Ala295Gly)
NM_007254.4(PNKP):c.884C>T (p.Ala295Val) rs753695701
NM_007254.4(PNKP):c.896C>T (p.Pro299Leu) rs2074784919
NM_007254.4(PNKP):c.906G>A (p.Lys302=) rs1555811171
NM_007254.4(PNKP):c.906G>C (p.Lys302Asn) rs1555811171
NM_007254.4(PNKP):c.910_912del (p.Lys304del) rs2122328280
NM_007254.4(PNKP):c.911A>C (p.Lys304Thr)
NM_007254.4(PNKP):c.913G>A (p.Asp305Asn)
NM_007254.4(PNKP):c.916_917del (p.Phe306fs) rs2074784617
NM_007254.4(PNKP):c.920C>T (p.Ser307Phe) rs1555811168
NM_007254.4(PNKP):c.920_922del (p.Ser307del) rs886042225
NM_007254.4(PNKP):c.922T>C (p.Cys308Arg) rs2074784418
NM_007254.4(PNKP):c.924C>G (p.Cys308Trp) rs771622669
NM_007254.4(PNKP):c.927C>T (p.Ala309=)
NM_007254.4(PNKP):c.928G>T (p.Asp310Tyr)
NM_007254.4(PNKP):c.933C>G (p.Arg311=) rs755200425
NM_007254.4(PNKP):c.933C>T (p.Arg311=)
NM_007254.4(PNKP):c.936+10del rs1028122181
NM_007254.4(PNKP):c.936+11T>C
NM_007254.4(PNKP):c.936+13C>A rs962788282
NM_007254.4(PNKP):c.936+13C>G rs962788282
NM_007254.4(PNKP):c.936+13dup rs3739200
NM_007254.4(PNKP):c.936+15C>G rs1408686073
NM_007254.4(PNKP):c.936+16C>T rs369723968
NM_007254.4(PNKP):c.936+17C>G rs771741148
NM_007254.4(PNKP):c.936+4_936+10dup
NM_007254.4(PNKP):c.936+5G>A rs954048668
NM_007254.4(PNKP):c.937-11_937-10del rs769234730
NM_007254.4(PNKP):c.937-13C>T
NM_007254.4(PNKP):c.937-15G>A
NM_007254.4(PNKP):c.937-15G>C rs200183796
NM_007254.4(PNKP):c.937-16C>G rs755267515
NM_007254.4(PNKP):c.937-19G>T
NM_007254.4(PNKP):c.937-6C>T
NM_007254.4(PNKP):c.937-7C>T
NM_007254.4(PNKP):c.93G>C (p.Leu31=)
NM_007254.4(PNKP):c.943C>T (p.Leu315Phe)
NM_007254.4(PNKP):c.957G>A (p.Leu319=) rs1600417997
NM_007254.4(PNKP):c.963C>T (p.Phe321=) rs1042120334
NM_007254.4(PNKP):c.964G>A (p.Ala322Thr)
NM_007254.4(PNKP):c.976G>A (p.Glu326Lys) rs267606956
NM_007254.4(PNKP):c.983_986del (p.Phe328fs)
NM_007254.4(PNKP):c.984del (p.Leu329fs) rs1163218519
NM_007254.4(PNKP):c.986T>C (p.Leu329Pro) rs2074781406
NM_007254.4(PNKP):c.999A>T (p.Ala333=) rs1568660146
NM_007254.4(PNKP):c.999_1005dup (p.Phe336fs)
NM_015192.4(PLCB1):c.100-5del rs2051496558
NM_015192.4(PLCB1):c.1010-12G>C rs2123427869
NM_015192.4(PLCB1):c.1010-16T>C
NM_015192.4(PLCB1):c.1010-3T>A rs2123427893
NM_015192.4(PLCB1):c.1010-5T>G
NM_015192.4(PLCB1):c.1011T>C (p.Ala337=)
NM_015192.4(PLCB1):c.1020G>T (p.Leu340=) rs1026746331
NM_015192.4(PLCB1):c.1023T>A (p.Ala341=) rs2123427957
NM_015192.4(PLCB1):c.1023T>C (p.Ala341=)
NM_015192.4(PLCB1):c.1049G>A (p.Arg350His) rs909616713
NM_015192.4(PLCB1):c.1056G>A (p.Val352=)
NM_015192.4(PLCB1):c.106A>G (p.Thr36Ala) rs377750225
NM_015192.4(PLCB1):c.1073G>A (p.Arg358His)
NM_015192.4(PLCB1):c.1078G>C (p.Val360Leu) rs1224516482
NM_015192.4(PLCB1):c.1087del (p.Asp363fs)
NM_015192.4(PLCB1):c.113T>C (p.Val38Ala)
NM_015192.4(PLCB1):c.1149A>T (p.Thr383=) rs1600258498
NM_015192.4(PLCB1):c.1159T>C (p.Ser387Pro)
NM_015192.4(PLCB1):c.1167+5A>G
NM_015192.4(PLCB1):c.1167+6G>A rs2123428266
NM_015192.4(PLCB1):c.1167+9T>C rs202247297
NM_015192.4(PLCB1):c.1168-17T>C
NM_015192.4(PLCB1):c.1168-19C>T
NM_015192.4(PLCB1):c.1168-1G>A rs2123451785
NM_015192.4(PLCB1):c.1168-20A>G
NM_015192.4(PLCB1):c.1179A>G (p.Glu393=)
NM_015192.4(PLCB1):c.1187C>T (p.Ala396Val)
NM_015192.4(PLCB1):c.1206T>C (p.Thr402=) rs1244012742
NM_015192.4(PLCB1):c.1218A>G (p.Pro406=)
NM_015192.4(PLCB1):c.1249T>G (p.Ser417Ala)
NM_015192.4(PLCB1):c.1250+10C>T rs2123451946
NM_015192.4(PLCB1):c.1251-12G>A
NM_015192.4(PLCB1):c.1251-12G>T
NM_015192.4(PLCB1):c.1251-20C>T rs2123465564
NM_015192.4(PLCB1):c.1251-5C>T rs1232990898
NM_015192.4(PLCB1):c.1263A>G (p.Gln421=) rs2123465618
NM_015192.4(PLCB1):c.1274C>T (p.Ala425Val) rs1171674168
NM_015192.4(PLCB1):c.1281C>T (p.Tyr427=)
NM_015192.4(PLCB1):c.1286G>A (p.Arg429Gln) rs551873449
NM_015192.4(PLCB1):c.1288C>A (p.Leu430Met) rs1979306410
NM_015192.4(PLCB1):c.1303G>A (p.Ala435Thr)
NM_015192.4(PLCB1):c.1317G>A (p.Glu439=)
NM_015192.4(PLCB1):c.1319C>A (p.Pro440His)
NM_015192.4(PLCB1):c.1320C>A (p.Pro440=) rs2123465748
NM_015192.4(PLCB1):c.1323G>A (p.Leu441=) rs1231131549
NM_015192.4(PLCB1):c.1324G>A (p.Glu442Lys) rs1356153164
NM_015192.4(PLCB1):c.1335+11C>G
NM_015192.4(PLCB1):c.1336-13dup
NM_015192.4(PLCB1):c.1365T>C (p.Pro455=) rs1979399173
NM_015192.4(PLCB1):c.1368G>A (p.Met456Ile) rs1979399616
NM_015192.4(PLCB1):c.1379A>G (p.Tyr460Cys) rs1600272774
NM_015192.4(PLCB1):c.1389G>A (p.Leu463=)
NM_015192.4(PLCB1):c.1401G>A (p.Lys467=)
NM_015192.4(PLCB1):c.1408T>C (p.Ser470Pro) rs1208741312
NM_015192.4(PLCB1):c.1416G>A (p.Lys472=)
NM_015192.4(PLCB1):c.1417T>C (p.Ser473Pro) rs896514396
NM_015192.4(PLCB1):c.1434C>A (p.Gly478=) rs13042785
NM_015192.4(PLCB1):c.1449A>G (p.Ser483=)
NM_015192.4(PLCB1):c.1463A>T (p.Asn488Ile)
NM_015192.4(PLCB1):c.1464C>T (p.Asn488=)
NM_015192.4(PLCB1):c.1467C>G (p.Thr489=) rs1319689571
NM_015192.4(PLCB1):c.1473T>A (p.Ser491Arg) rs2123468950
NM_015192.4(PLCB1):c.1501T>G (p.Ser501Ala) rs763886018
NM_015192.4(PLCB1):c.1508G>A (p.Gly503Glu)
NM_015192.4(PLCB1):c.1514-17T>C
NM_015192.4(PLCB1):c.1514-1G>A
NM_015192.4(PLCB1):c.1527G>A (p.Thr509=) rs141857911
NM_015192.4(PLCB1):c.1527G>C (p.Thr509=) rs141857911
NM_015192.4(PLCB1):c.1538A>G (p.Asp513Gly) rs941680744
NM_015192.4(PLCB1):c.1544A>T (p.Asp515Val) rs1568573426
NM_015192.4(PLCB1):c.1557C>A (p.Asp519Glu) rs1979694638
NM_015192.4(PLCB1):c.1573A>G (p.Met525Val) rs138851178
NM_015192.4(PLCB1):c.1573A>T (p.Met525Leu) rs138851178
NM_015192.4(PLCB1):c.1581+20G>C
NM_015192.4(PLCB1):c.1582-11C>A
NM_015192.4(PLCB1):c.1582-16T>C rs2123482619
NM_015192.4(PLCB1):c.1582-20T>C rs978161914
NM_015192.4(PLCB1):c.1582-20T>G
NM_015192.4(PLCB1):c.1582-6T>G rs763270303
NM_015192.4(PLCB1):c.1584G>C (p.Gly528=) rs957436764
NM_015192.4(PLCB1):c.1587T>C (p.Thr529=)
NM_015192.4(PLCB1):c.1591G>C (p.Gly531Arg) rs1979835329
NM_015192.4(PLCB1):c.159C>T (p.Tyr53=)
NM_015192.4(PLCB1):c.1603A>G (p.Met535Val) rs1979835703
NM_015192.4(PLCB1):c.1612G>T (p.Glu538Ter) rs1600278094
NM_015192.4(PLCB1):c.1623T>C (p.Ser541=)
NM_015192.4(PLCB1):c.1653G>A (p.Lys551=)
NM_015192.4(PLCB1):c.1678+14G>A
NM_015192.4(PLCB1):c.1678dup (p.Arg561fs)
NM_015192.4(PLCB1):c.1679-20T>G
NM_015192.4(PLCB1):c.1685A>G (p.Asn562Ser) rs1319493393
NM_015192.4(PLCB1):c.171A>C (p.Gln57His) rs2123032607
NM_015192.4(PLCB1):c.1722A>G (p.Lys574=)
NM_015192.4(PLCB1):c.1740C>T (p.Thr580=) rs2123487994
NM_015192.4(PLCB1):c.1746T>G (p.Ser582=)
NM_015192.4(PLCB1):c.1754A>G (p.Glu585Gly)
NM_015192.4(PLCB1):c.1763+16C>T
NM_015192.4(PLCB1):c.1763+2T>C
NM_015192.4(PLCB1):c.1764-12A>G rs1377870470
NM_015192.4(PLCB1):c.1764-7G>T
NM_015192.4(PLCB1):c.1764A>T (p.Glu588Asp) rs1334933670
NM_015192.4(PLCB1):c.177+10G>A rs2123032657
NM_015192.4(PLCB1):c.177+13G>A
NM_015192.4(PLCB1):c.177+16T>C
NM_015192.4(PLCB1):c.177+8A>G rs2051497659
NM_015192.4(PLCB1):c.177+8_177+13del
NM_015192.4(PLCB1):c.1773A>T (p.Lys591Asn) rs2123491392
NM_015192.4(PLCB1):c.1774A>T (p.Met592Leu) rs1457373665
NM_015192.4(PLCB1):c.178-2A>G
NM_015192.4(PLCB1):c.178-3C>T rs2122343481
NM_015192.4(PLCB1):c.1785C>T (p.Ser595=)
NM_015192.4(PLCB1):c.1808G>T (p.Arg603Leu)
NM_015192.4(PLCB1):c.1813G>T (p.Asp605Tyr) rs2123491460
NM_015192.4(PLCB1):c.1831C>T (p.Pro611Ser) rs1980094549
NM_015192.4(PLCB1):c.1854T>C (p.Gly618=) rs559952614
NM_015192.4(PLCB1):c.1888+17T>A
NM_015192.4(PLCB1):c.1888+1G>A
NM_015192.4(PLCB1):c.1888+9A>G rs371050904
NM_015192.4(PLCB1):c.1889-17G>T
NM_015192.4(PLCB1):c.1889-6A>G rs754796840
NM_015192.4(PLCB1):c.189A>G (p.Leu63=) rs2122343551
NM_015192.4(PLCB1):c.18C>T (p.Pro6=) rs745497485
NM_015192.4(PLCB1):c.1902A>G (p.Gln634=)
NM_015192.4(PLCB1):c.1908T>C (p.Asn636=) rs778595698
NM_015192.4(PLCB1):c.1938T>C (p.Ser646=)
NM_015192.4(PLCB1):c.1944C>T (p.Tyr648=) rs200073364
NM_015192.4(PLCB1):c.1956A>G (p.Pro652=) rs2123500900
NM_015192.4(PLCB1):c.1957G>C (p.Glu653Gln) rs2123500903
NM_015192.4(PLCB1):c.196C>T (p.Leu66Phe) rs2122343584
NM_015192.4(PLCB1):c.1970G>A (p.Arg657Lys) rs1980372070
NM_015192.4(PLCB1):c.1971G>A (p.Arg657=) rs1184814410
NM_015192.4(PLCB1):c.1992A>G (p.Pro664=)
NM_015192.4(PLCB1):c.199A>C (p.Ser67Arg) rs1986899325
NM_015192.4(PLCB1):c.2008G>T (p.Val670Leu) rs772981786
NM_015192.4(PLCB1):c.200G>C (p.Ser67Thr) rs775742325
NM_015192.4(PLCB1):c.2015G>A (p.Gly672Glu) rs1555786715
NM_015192.4(PLCB1):c.2017A>G (p.Ile673Val)
NM_015192.4(PLCB1):c.2037T>G (p.Ser679=) rs1980374821
NM_015192.4(PLCB1):c.2043+10C>A
NM_015192.4(PLCB1):c.2043+12C>A rs2123501040
NM_015192.4(PLCB1):c.2043+22del rs761743488
NM_015192.4(PLCB1):c.2044-7T>C rs1600286973
NM_015192.4(PLCB1):c.204T>G (p.Leu68=)
NM_015192.4(PLCB1):c.2055T>C (p.Gly685=)
NM_015192.4(PLCB1):c.2076A>G (p.Lys692=)
NM_015192.4(PLCB1):c.2079T>C (p.Val693=)
NM_015192.4(PLCB1):c.2082G>T (p.Gly694=)
NM_015192.4(PLCB1):c.209A>G (p.Lys70Arg)
NM_015192.4(PLCB1):c.2100T>C (p.Asp700=) rs1810685406
NM_015192.4(PLCB1):c.2133G>A (p.Lys711=) rs1980624026
NM_015192.4(PLCB1):c.2138T>G (p.Phe713Cys) rs2123510528
NM_015192.4(PLCB1):c.2141A>G (p.Lys714Arg) rs2123510534
NM_015192.4(PLCB1):c.214G>A (p.Ala72Thr) rs2122343640
NM_015192.4(PLCB1):c.2155del (p.Gln719fs)
NM_015192.4(PLCB1):c.2176G>C (p.Val726Leu)
NM_015192.4(PLCB1):c.2208+1G>A rs1235234848
NM_015192.4(PLCB1):c.2209-8C>G
NM_015192.4(PLCB1):c.2209-9C>A
NM_015192.4(PLCB1):c.2213T>C (p.Val738Ala) rs1980744187
NM_015192.4(PLCB1):c.223G>A (p.Gly75Arg)
NM_015192.4(PLCB1):c.2243C>T (p.Ala748Val) rs1980745626
NM_015192.4(PLCB1):c.2251G>A (p.Glu751Lys)
NM_015192.4(PLCB1):c.2256A>G (p.Glu752=)
NM_015192.4(PLCB1):c.2270T>C (p.Ile757Thr) rs1488351224
NM_015192.4(PLCB1):c.2278C>T (p.Arg760Cys) rs1194618095
NM_015192.4(PLCB1):c.2290G>C (p.Val764Leu)
NM_015192.4(PLCB1):c.2293C>G (p.Gln765Glu) rs1980748318
NM_015192.4(PLCB1):c.2302C>T (p.Arg768Trp)
NM_015192.4(PLCB1):c.2308+10G>C
NM_015192.4(PLCB1):c.2308+11T>C
NM_015192.4(PLCB1):c.2309-5T>C rs2123518557
NM_015192.4(PLCB1):c.2316C>T (p.His772=)
NM_015192.4(PLCB1):c.2318A>T (p.Tyr773Phe) rs948237591
NM_015192.4(PLCB1):c.2320A>T (p.Ile774Phe)
NM_015192.4(PLCB1):c.2324G>A (p.Cys775Tyr) rs1209875193
NM_015192.4(PLCB1):c.2335G>A (p.Glu779Lys)
NM_015192.4(PLCB1):c.2346G>C (p.Gln782His) rs2123518683
NM_015192.4(PLCB1):c.2347C>A (p.Pro783Thr) rs1980812475
NM_015192.4(PLCB1):c.2377A>G (p.Ile793Val) rs1980815338
NM_015192.4(PLCB1):c.2413+20T>C
NM_015192.4(PLCB1):c.2413+3A>C rs2123518817
NM_015192.4(PLCB1):c.2413+6C>A
NM_015192.4(PLCB1):c.2413+8A>G rs1332027028
NM_015192.4(PLCB1):c.2414-17A>C
NM_015192.4(PLCB1):c.2414-6A>G rs1980876450
NM_015192.4(PLCB1):c.2422G>A (p.Glu808Lys)
NM_015192.4(PLCB1):c.242C>T (p.Pro81Leu) rs2122343800
NM_015192.4(PLCB1):c.2442C>A (p.Ile814=)
NM_015192.4(PLCB1):c.2446T>C (p.Tyr816His)
NM_015192.4(PLCB1):c.2448T>C (p.Tyr816=) rs2123521345
NM_015192.4(PLCB1):c.2449G>A (p.Val817Met) rs1568580795
NM_015192.4(PLCB1):c.2457G>A (p.Leu819=)
NM_015192.4(PLCB1):c.2458A>T (p.Met820Leu)
NM_015192.4(PLCB1):c.245A>T (p.Lys82Met) rs1600350860
NM_015192.4(PLCB1):c.246+18del
NM_015192.4(PLCB1):c.246+19T>G
NM_015192.4(PLCB1):c.246+9T>C rs2122343882
NM_015192.4(PLCB1):c.2466G>A (p.Gln822=) rs2123521405
NM_015192.4(PLCB1):c.247-13A>G
NM_015192.4(PLCB1):c.247-3C>A rs1568534926
NM_015192.4(PLCB1):c.247-4C>T rs1183324381
NM_015192.4(PLCB1):c.2478A>G (p.Gln826=)
NM_015192.4(PLCB1):c.2494C>G (p.Leu832Val) rs2123521466
NM_015192.4(PLCB1):c.2504AAG[2] (p.Glu837del) rs1213359058
NM_015192.4(PLCB1):c.2506G>A (p.Glu836Lys) rs1980880915
NM_015192.4(PLCB1):c.2507A>G (p.Glu836Gly)
NM_015192.4(PLCB1):c.250C>A (p.Pro84Thr)
NM_015192.4(PLCB1):c.251C>T (p.Pro84Leu) rs781293608
NM_015192.4(PLCB1):c.2523+11G>A rs2123521619
NM_015192.4(PLCB1):c.2523+17A>G
NM_015192.4(PLCB1):c.2523+3G>A rs2123521598
NM_015192.4(PLCB1):c.2524-17G>C
NM_015192.4(PLCB1):c.252C>A (p.Pro84=)
NM_015192.4(PLCB1):c.2538A>G (p.Glu846=)
NM_015192.4(PLCB1):c.2543C>T (p.Pro848Leu) rs2123562586
NM_015192.4(PLCB1):c.2547A>G (p.Ser849=) rs995924752
NM_015192.4(PLCB1):c.2559T>A (p.Ser853Arg) rs753642857
NM_015192.4(PLCB1):c.2560G>C (p.Glu854Gln) rs1227346164
NM_015192.4(PLCB1):c.2569A>G (p.Thr857Ala)
NM_015192.4(PLCB1):c.2571G>A (p.Thr857=) rs995077080
NM_015192.4(PLCB1):c.2598C>T (p.His866=)
NM_015192.4(PLCB1):c.2607C>T (p.Thr869=)
NM_015192.4(PLCB1):c.2609T>C (p.Leu870Pro) rs1171306759
NM_015192.4(PLCB1):c.2611A>G (p.Thr871Ala) rs1981777815
NM_015192.4(PLCB1):c.2614C>A (p.Pro872Thr) rs769110563
NM_015192.4(PLCB1):c.2619G>T (p.Lys873Asn) rs1981778719
NM_015192.4(PLCB1):c.2623C>T (p.Pro875Ser) rs1568586909
NM_015192.4(PLCB1):c.2624C>A (p.Pro875His) rs1386644525
NM_015192.4(PLCB1):c.2625C>G (p.Pro875=) rs1600302170
NM_015192.4(PLCB1):c.2628C>T (p.Ser876=) rs747869213
NM_015192.4(PLCB1):c.2650G>A (p.Ala884Thr) rs1274123563
NM_015192.4(PLCB1):c.2656+19G>T rs1254067033
NM_015192.4(PLCB1):c.2656+1G>T
NM_015192.4(PLCB1):c.2656+20C>G
NM_015192.4(PLCB1):c.2657-10T>A
NM_015192.4(PLCB1):c.2657-10T>C
NM_015192.4(PLCB1):c.2657-18T>G
NM_015192.4(PLCB1):c.2657-19_2657-15del rs2123571999
NM_015192.4(PLCB1):c.2657-4A>G rs777637262
NM_015192.4(PLCB1):c.2658T>A (p.Gly886=) rs1420202284
NM_015192.4(PLCB1):c.265C>A (p.Leu89Ile) rs1988421541
NM_015192.4(PLCB1):c.2666del (p.Lys889fs) rs1981959745
NM_015192.4(PLCB1):c.2669C>T (p.Ala890Val) rs2123572097
NM_015192.4(PLCB1):c.2680A>G (p.Thr894Ala) rs2123572151
NM_015192.4(PLCB1):c.2708C>A (p.Thr903Lys) rs775341189
NM_015192.4(PLCB1):c.2710+17C>T
NM_015192.4(PLCB1):c.2710+22del rs747461333
NM_015192.4(PLCB1):c.2710+8C>G rs1981963703
NM_015192.4(PLCB1):c.2711-11A>C
NM_015192.4(PLCB1):c.2711-13T>C
NM_015192.4(PLCB1):c.2711-16T>C rs2123585570
NM_015192.4(PLCB1):c.2711-20T>C
NM_015192.4(PLCB1):c.2711-9T>C
NM_015192.4(PLCB1):c.2712A>G (p.Glu904=) rs2123585641
NM_015192.4(PLCB1):c.2754G>T (p.Ser918=)
NM_015192.4(PLCB1):c.2779T>C (p.Tyr927His) rs2123585864
NM_015192.4(PLCB1):c.2788A>G (p.Met930Val)
NM_015192.4(PLCB1):c.2789T>C (p.Met930Thr)
NM_015192.4(PLCB1):c.2796C>T (p.Asp932=)
NM_015192.4(PLCB1):c.2797C>G (p.Leu933Val) rs143664316
NM_015192.4(PLCB1):c.2798T>C (p.Leu933Pro) rs147191017
NM_015192.4(PLCB1):c.2807G>A (p.Arg936Lys) rs1982257294
NM_015192.4(PLCB1):c.2813A>G (p.His938Arg) rs1982257980
NM_015192.4(PLCB1):c.282C>T (p.Asn94=) rs1988422042
NM_015192.4(PLCB1):c.2830C>A (p.Leu944Ile) rs561685256
NM_015192.4(PLCB1):c.2830C>G (p.Leu944Val) rs561685256
NM_015192.4(PLCB1):c.2835C>T (p.Ile945=)
NM_015192.4(PLCB1):c.2836A>G (p.Lys946Glu)
NM_015192.4(PLCB1):c.283A>C (p.Ile95Leu) rs199888561
NM_015192.4(PLCB1):c.2844C>A (p.His948Gln)
NM_015192.4(PLCB1):c.285C>T (p.Ile95=)
NM_015192.4(PLCB1):c.2901A>G (p.Glu967=)
NM_015192.4(PLCB1):c.290G>A (p.Arg97His) rs747785129
NM_015192.4(PLCB1):c.2931-8C>G rs1982848887
NM_015192.4(PLCB1):c.2951A>G (p.Asp984Gly)
NM_015192.4(PLCB1):c.2958T>C (p.Gly986=) rs1273351024
NM_015192.4(PLCB1):c.295G>C (p.Glu99Gln) rs1555777814
NM_015192.4(PLCB1):c.2965A>G (p.Thr989Ala)
NM_015192.4(PLCB1):c.2966C>A (p.Thr989Lys) rs1982851592
NM_015192.4(PLCB1):c.2966C>T (p.Thr989Met)
NM_015192.4(PLCB1):c.2997T>C (p.Ala999=)
NM_015192.4(PLCB1):c.29C>G (p.Ala10Gly) rs1568564198
NM_015192.4(PLCB1):c.29C>T (p.Ala10Val) rs1568564198
NM_015192.4(PLCB1):c.3004A>C (p.Thr1002Pro) rs1358746132
NM_015192.4(PLCB1):c.3015A>C (p.Leu1005Phe) rs765989029
NM_015192.4(PLCB1):c.3016A>G (p.Ile1006Val) rs2146203878
NM_015192.4(PLCB1):c.3048G>A (p.Leu1016=)
NM_015192.4(PLCB1):c.3052A>G (p.Asn1018Asp) rs2146203906
NM_015192.4(PLCB1):c.3058C>T (p.Arg1020Trp) rs1023330264
NM_015192.4(PLCB1):c.3071A>G (p.Tyr1024Cys) rs1982859175
NM_015192.4(PLCB1):c.3072T>C (p.Tyr1024=)
NM_015192.4(PLCB1):c.3093G>A (p.Lys1031=) rs2146203971
NM_015192.4(PLCB1):c.3094C>T (p.Arg1032Ter)
NM_015192.4(PLCB1):c.3111+16A>C
NM_015192.4(PLCB1):c.3112-10_3112-8del rs1163689360
NM_015192.4(PLCB1):c.3112-15A>G
NM_015192.4(PLCB1):c.3112-7T>C rs2146220088
NM_015192.4(PLCB1):c.3114T>C (p.Leu1038=)
NM_015192.4(PLCB1):c.3115A>C (p.Ile1039Leu)
NM_015192.4(PLCB1):c.3127A>G (p.Thr1043Ala) rs1983594595
NM_015192.4(PLCB1):c.3129G>A (p.Thr1043=) rs141102170
NM_015192.4(PLCB1):c.312A>G (p.Thr104=) rs776521907
NM_015192.4(PLCB1):c.3135C>A (p.Val1045=) rs577076166
NM_015192.4(PLCB1):c.3135C>T (p.Val1045=) rs577076166
NM_015192.4(PLCB1):c.3138A>G (p.Ala1046=)
NM_015192.4(PLCB1):c.3141A>G (p.Glu1047=) rs1983595733
NM_015192.4(PLCB1):c.3143A>C (p.Glu1048Ala) rs2146220200
NM_015192.4(PLCB1):c.316G>A (p.Val106Met)
NM_015192.4(PLCB1):c.316G>C (p.Val106Leu) rs1181797347
NM_015192.4(PLCB1):c.3180C>A (p.Ile1060=) rs1043961648
NM_015192.4(PLCB1):c.3180C>T (p.Ile1060=)
NM_015192.4(PLCB1):c.3188+14C>A rs2146220288
NM_015192.4(PLCB1):c.3188+16C>T
NM_015192.4(PLCB1):c.3188+17A>G
NM_015192.4(PLCB1):c.3188+20A>G
NM_015192.4(PLCB1):c.3188+5G>C rs2146220264
NM_015192.4(PLCB1):c.3188A>C (p.Lys1063Thr) rs1371029553
NM_015192.4(PLCB1):c.3189-18C>T rs2146220402
NM_015192.4(PLCB1):c.3189-8G>A rs2146220422
NM_015192.4(PLCB1):c.3215T>C (p.Met1072Thr)
NM_015192.4(PLCB1):c.3237G>A (p.Lys1079=)
NM_015192.4(PLCB1):c.3238A>G (p.Ile1080Val) rs1303531069
NM_015192.4(PLCB1):c.3249T>G (p.Ala1083=)
NM_015192.4(PLCB1):c.325C>T (p.Pro109Ser) rs748150163
NM_015192.4(PLCB1):c.3271A>G (p.Met1091Val)
NM_015192.4(PLCB1):c.3272T>C (p.Met1091Thr)
NM_015192.4(PLCB1):c.3273G>A (p.Met1091Ile) rs1983608682
NM_015192.4(PLCB1):c.3278+16C>A
NM_015192.4(PLCB1):c.3279-9del rs1983650147
NM_015192.4(PLCB1):c.331C>T (p.Leu111Phe) rs373051695
NM_015192.4(PLCB1):c.3321G>A (p.Val1107=) rs1600329135
NM_015192.4(PLCB1):c.3336+18G>A
NM_015192.4(PLCB1):c.3336+18G>T
NM_015192.4(PLCB1):c.3336+3A>G rs773248262
NM_015192.4(PLCB1):c.3337-15G>A
NM_015192.4(PLCB1):c.3337-3T>C rs778662535
NM_015192.4(PLCB1):c.3337-6T>G rs2146222772
NM_015192.4(PLCB1):c.3341A>T (p.Glu1114Val) rs1983683540
NM_015192.4(PLCB1):c.3346G>A (p.Ala1116Thr) rs1983683787
NM_015192.4(PLCB1):c.3348G>C (p.Ala1116=) rs587780417
NM_015192.4(PLCB1):c.3358C>T (p.Arg1120Trp) rs2146222855
NM_015192.4(PLCB1):c.3360G>A (p.Arg1120=) rs2146222865
NM_015192.4(PLCB1):c.3364G>A (p.Glu1122Lys)
NM_015192.4(PLCB1):c.3370C>T (p.Leu1124Phe) rs1983685665
NM_015192.4(PLCB1):c.3373G>T (p.Val1125Leu) rs773333771
NM_015192.4(PLCB1):c.3394C>A (p.Arg1132Ser) rs755357721
NM_015192.4(PLCB1):c.3394C>G (p.Arg1132Gly) rs755357721
NM_015192.4(PLCB1):c.3400C>G (p.Gln1134Glu)
NM_015192.4(PLCB1):c.3411T>C (p.Asp1137=)
NM_015192.4(PLCB1):c.3419C>A (p.Pro1140His) rs2146222951
NM_015192.4(PLCB1):c.3420C>A (p.Pro1140=) rs1213422177
NM_015192.4(PLCB1):c.3423+12T>G rs1041619042
NM_015192.4(PLCB1):c.3423+18A>C
NM_015192.4(PLCB1):c.3423+18A>T rs201519375
NM_015192.4(PLCB1):c.3423G>A (p.Lys1141=) rs2146222958
NM_015192.4(PLCB1):c.3424-11A>G
NM_015192.4(PLCB1):c.3424-17C>T
NM_015192.4(PLCB1):c.3424-18C>T
NM_015192.4(PLCB1):c.3424-19C>T rs2146337482
NM_015192.4(PLCB1):c.3447A>C (p.Glu1149Asp) rs142432676
NM_015192.4(PLCB1):c.3449A>G (p.Tyr1150Cys) rs1265159999
NM_015192.4(PLCB1):c.3477C>A (p.Leu1159=)
NM_015192.4(PLCB1):c.3487G>C (p.Glu1163Gln)
NM_015192.4(PLCB1):c.348T>A (p.His116Gln) rs965963245
NM_015192.4(PLCB1):c.3507G>A (p.Met1169Ile) rs2146337606
NM_015192.4(PLCB1):c.3513A>C (p.Gly1171=)
NM_015192.4(PLCB1):c.3513A>G (p.Gly1171=) rs781577271
NM_015192.4(PLCB1):c.3525A>C (p.Glu1175Asp) rs1455824326
NM_015192.4(PLCB1):c.3532A>T (p.Asn1178Tyr)
NM_015192.4(PLCB1):c.3537C>T (p.His1179=)
NM_015192.4(PLCB1):c.3545C>T (p.Ala1182Val) rs1028186212
NM_015192.4(PLCB1):c.3546C>T (p.Ala1182=) rs148236379
NM_015192.4(PLCB1):c.3549T>A (p.Pro1183=) rs780459225
NM_015192.4(PLCB1):c.3552C>T (p.Leu1184=) rs1008953911
NM_015192.4(PLCB1):c.3553T>C (p.Ser1185Pro) rs1988000094
NM_015192.4(PLCB1):c.3559_3563del (p.Ser1187fs) rs2146337709
NM_015192.4(PLCB1):c.3566A>G (p.Asp1189Gly)
NM_015192.4(PLCB1):c.3589A>G (p.Thr1197Ala) rs199568969
NM_015192.4(PLCB1):c.3603G>A (p.Glu1201=)
NM_015192.4(PLCB1):c.360G>T (p.Val120=)
NM_015192.4(PLCB1):c.3635T>C (p.Phe1212Ser) rs202009902
NM_015192.4(PLCB1):c.3635T>G (p.Phe1212Cys) rs202009902
NM_015192.4(PLCB1):c.3648G>C (p.Leu1216=) rs2146337863
NM_015192.4(PLCB1):c.368AAG[2] (p.Glu125del) rs766595102
NM_015192.4(PLCB1):c.369A>C (p.Gln123His) rs755560918
NM_015192.4(PLCB1):c.378G>T (p.Val126=)
NM_015192.4(PLCB1):c.384+17T>C
NM_015192.4(PLCB1):c.384+3A>G
NM_015192.4(PLCB1):c.385-15A>C
NM_015192.4(PLCB1):c.400G>A (p.Val134Ile) rs1199339071
NM_015192.4(PLCB1):c.406A>T (p.Ser136Cys)
NM_015192.4(PLCB1):c.413C>T (p.Ala138Val) rs2123285821
NM_015192.4(PLCB1):c.420C>T (p.Asn140=)
NM_015192.4(PLCB1):c.423G>A (p.Leu141=)
NM_015192.4(PLCB1):c.425T>C (p.Leu142Pro) rs2123285875
NM_015192.4(PLCB1):c.438G>A (p.Met146Ile) rs1989165148
NM_015192.4(PLCB1):c.441C>G (p.Ser147=) rs1031381948
NM_015192.4(PLCB1):c.446A>T (p.Asp149Val) rs2123285994
NM_015192.4(PLCB1):c.450A>G (p.Ala150=)
NM_015192.4(PLCB1):c.45C>A (p.Pro15=) rs540174506
NM_015192.4(PLCB1):c.45C>G (p.Pro15=) rs540174506
NM_015192.4(PLCB1):c.464+14A>T
NM_015192.4(PLCB1):c.464+16T>C
NM_015192.4(PLCB1):c.464+18T>A
NM_015192.4(PLCB1):c.464+1G>A
NM_015192.4(PLCB1):c.464+20T>C rs2123286146
NM_015192.4(PLCB1):c.464+7C>G rs1193936118
NM_015192.4(PLCB1):c.465-13G>C
NM_015192.4(PLCB1):c.465-14T>C
NM_015192.4(PLCB1):c.465-2A>C rs2123290747
NM_015192.4(PLCB1):c.465C>T (p.Ala155=)
NM_015192.4(PLCB1):c.480G>T (p.Lys160Asn)
NM_015192.4(PLCB1):c.483G>T (p.Leu161=) rs1989210406
NM_015192.4(PLCB1):c.492T>C (p.Thr164=)
NM_015192.4(PLCB1):c.507T>A (p.Ile169=)
NM_015192.4(PLCB1):c.509C>T (p.Pro170Leu) rs1989211414
NM_015192.4(PLCB1):c.518+14G>A
NM_015192.4(PLCB1):c.519-10C>T rs2123294964
NM_015192.4(PLCB1):c.519-13G>A rs2123294946
NM_015192.4(PLCB1):c.519-18G>A
NM_015192.4(PLCB1):c.519-19T>C rs754810660
NM_015192.4(PLCB1):c.519-20T>C rs2123294914
NM_015192.4(PLCB1):c.519-7_519-3del rs2123294953
NM_015192.4(PLCB1):c.520A>G (p.Ile174Val) rs748138827
NM_015192.4(PLCB1):c.550C>A (p.Arg184=) rs770826618
NM_015192.4(PLCB1):c.568G>A (p.Glu190Lys) rs2123295095
NM_015192.4(PLCB1):c.585A>G (p.Pro195=)
NM_015192.4(PLCB1):c.595-14_595-12del
NM_015192.4(PLCB1):c.595-18C>T
NM_015192.4(PLCB1):c.598G>A (p.Asp200Asn) rs2123318774
NM_015192.4(PLCB1):c.611A>T (p.Gln204Leu) rs1989486420
NM_015192.4(PLCB1):c.612A>T (p.Gln204His) rs1989486497
NM_015192.4(PLCB1):c.619T>A (p.Phe207Ile) rs1358940714
NM_015192.4(PLCB1):c.62G>A (p.Ser21Asn) rs2122992000
NM_015192.4(PLCB1):c.630A>G (p.Glu210=)
NM_015192.4(PLCB1):c.633G>T (p.Val211=)
NM_015192.4(PLCB1):c.63C>T (p.Ser21=) rs1256957868
NM_015192.4(PLCB1):c.650A>G (p.Asn217Ser)
NM_015192.4(PLCB1):c.654C>A (p.Asn218Lys)
NM_015192.4(PLCB1):c.664C>G (p.Arg222Gly) rs990536521
NM_015192.4(PLCB1):c.664C>T (p.Arg222Ter) rs990536521
NM_015192.4(PLCB1):c.665G>A (p.Arg222Gln) rs755135706
NM_015192.4(PLCB1):c.672A>G (p.Glu224=) rs1555780720
NM_015192.4(PLCB1):c.673A>C (p.Ile225Leu) rs1989488581
NM_015192.4(PLCB1):c.67A>G (p.Lys23Glu) rs2051304754
NM_015192.4(PLCB1):c.682A>G (p.Ile228Val) rs1600230250
NM_015192.4(PLCB1):c.695+11A>G
NM_015192.4(PLCB1):c.695+20G>A rs752982923
NM_015192.4(PLCB1):c.695+6_695+7del rs749649429
NM_015192.4(PLCB1):c.695+9A>G rs2123319106
NM_015192.4(PLCB1):c.696-8G>C rs1600230967
NM_015192.4(PLCB1):c.696-9del rs769183508
NM_015192.4(PLCB1):c.6C>G (p.Ala2=) rs752168839
NM_015192.4(PLCB1):c.6C>T (p.Ala2=) rs752168839
NM_015192.4(PLCB1):c.737T>C (p.Met246Thr)
NM_015192.4(PLCB1):c.769C>T (p.Arg257Trp) rs1419504867
NM_015192.4(PLCB1):c.777T>C (p.Asn259=)
NM_015192.4(PLCB1):c.778G>C (p.Glu260Gln) rs2123322675
NM_015192.4(PLCB1):c.781A>G (p.Ile261Val) rs1568549591
NM_015192.4(PLCB1):c.801A>G (p.Lys267=) rs1568549600
NM_015192.4(PLCB1):c.803A>G (p.Gln268Arg) rs1989533526
NM_015192.4(PLCB1):c.806A>G (p.Glu269Gly) rs1989533771
NM_015192.4(PLCB1):c.807G>T (p.Glu269Asp) rs1222914240
NM_015192.4(PLCB1):c.855C>T (p.Ala285=) rs1989536075
NM_015192.4(PLCB1):c.857G>A (p.Arg286Lys) rs1420410909
NM_015192.4(PLCB1):c.862+12C>G
NM_015192.4(PLCB1):c.862+13_862+16del
NM_015192.4(PLCB1):c.862+18C>T
NM_015192.4(PLCB1):c.862+19A>G
NM_015192.4(PLCB1):c.862+1G>A
NM_015192.4(PLCB1):c.863-15C>T rs2123399297
NM_015192.4(PLCB1):c.863-7C>G rs1990322418
NM_015192.4(PLCB1):c.875T>C (p.Val292Ala) rs370605921
NM_015192.4(PLCB1):c.882G>A (p.Gly294=)
NM_015192.4(PLCB1):c.885C>T (p.Phe295=)
NM_015192.4(PLCB1):c.890G>T (p.Arg297Leu)
NM_015192.4(PLCB1):c.89A>G (p.Lys30Arg) rs772081862
NM_015192.4(PLCB1):c.900T>G (p.Ser300Arg)
NM_015192.4(PLCB1):c.902G>C (p.Gly301Ala) rs2123399482
NM_015192.4(PLCB1):c.903A>G (p.Gly301=) rs1990323891
NM_015192.4(PLCB1):c.90G>A (p.Lys30=) rs777647424
NM_015192.4(PLCB1):c.918C>T (p.Val306=) rs1600250108
NM_015192.4(PLCB1):c.967del (p.Ser323fs) rs2123399674
NM_015192.4(PLCB1):c.972C>T (p.His324=) rs1289654666
NM_015192.4(PLCB1):c.99+19C>T
NM_015192.4(PLCB1):c.995A>G (p.Asn332Ser)

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