ClinVar Miner

List of variants in gene PNKP reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 883
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_007254.4(PNKP):c.1189-10del rs3739205 0.02593
NM_007254.4(PNKP):c.586T>A (p.Tyr196Asn) rs3739186 0.01081
NM_007254.4(PNKP):c.58C>T (p.Pro20Ser) rs3739168 0.00946
NM_007254.4(PNKP):c.1127-8C>T rs3739203 0.00901
NM_007254.4(PNKP):c.1032G>A (p.Arg344=) rs185452809 0.00406
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_007254.4(PNKP):c.1497G>A (p.Leu499=) rs142199280 0.00232
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_007254.4(PNKP):c.636+7G>A rs3739187 0.00154
NM_007254.4(PNKP):c.1491C>T (p.Ala497=) rs116192442 0.00133
NM_007254.4(PNKP):c.831G>A (p.Thr277=) rs148491228 0.00128
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00115
NM_007254.4(PNKP):c.650C>G (p.Thr217Ser) rs115259839 0.00112
NM_007254.4(PNKP):c.501G>A (p.Val167=) rs142143566 0.00071
NM_007254.4(PNKP):c.1299-6C>T rs112635688 0.00067
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_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_007254.4(PNKP):c.627G>A (p.Glu209=) rs532550120 0.00040
NM_007254.4(PNKP):c.893C>T (p.Ala298Val) rs145615734 0.00037
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_007254.4(PNKP):c.1386+41_1386+42del rs765720389 0.00030
NM_007254.4(PNKP):c.498+11C>T rs371375970 0.00027
NM_007254.4(PNKP):c.671G>A (p.Arg224His) rs199705876 0.00025
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_007254.4(PNKP):c.1413T>C (p.His471=) rs370017666 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_007254.4(PNKP):c.106G>A (p.Gly36Arg) rs949517384 0.00014
NM_007254.4(PNKP):c.1448+13A>G rs748882543 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_007254.4(PNKP):c.1211G>A (p.Arg404His) rs549069697 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_007254.4(PNKP):c.1298+6G>A rs578207030 0.00010
NM_007254.4(PNKP):c.275C>T (p.Thr92Ile) rs780440711 0.00010
NM_007254.4(PNKP):c.670C>T (p.Arg224Cys) rs761117623 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_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.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.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.456G>A (p.Lys152=) rs752339576 0.00006
NM_007254.4(PNKP):c.817-20C>G rs201778535 0.00006
NM_007254.4(PNKP):c.883G>A (p.Ala295Thr) rs368887106 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_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.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_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.1292G>A (p.Arg431His) rs950502049 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.407C>T (p.Pro136Leu) rs11555414 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_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_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.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.525G>T (p.Thr175=) rs1431267725 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
NC_000019.10:g.(?_49861228)_(49861901_?)del
NC_000019.10:g.(?_49861228)_(49867224_?)dup
NC_000019.9:g.(?_50364485)_(50370481_?)del
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.1182G>C (p.Val394=) rs1416491595
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>A (p.Arg60=) rs761948305
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.937-10C>G rs376801468
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)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.