ClinVar Miner

List of variants in gene PNKP reported as uncertain significance for complex neurodevelopmental disorder

Included ClinVar conditions (295):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 406
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HGVS dbSNP gnomAD frequency
NM_007254.4(PNKP):c.*15C>T rs1050332 0.00609
NM_007254.4(PNKP):c.1522G>A (p.Glu508Lys) rs146478958 0.00280
NM_007254.4(PNKP):c.416G>A (p.Arg139His) rs34472250 0.00185
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.-90G>A rs142120097 0.00105
NM_007254.4(PNKP):c.901C>T (p.Arg301Trp) rs201503405 0.00061
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.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.671G>A (p.Arg224His) rs199705876 0.00025
NM_007254.4(PNKP):c.*43G>A rs202061196 0.00021
NM_007254.4(PNKP):c.-35T>C rs550311179 0.00021
NM_007254.4(PNKP):c.678G>A (p.Lys226=) rs141969535 0.00021
NM_007254.4(PNKP):c.290A>G (p.Asn97Ser) rs140290151 0.00019
NM_007254.4(PNKP):c.-74G>A rs886054584 0.00017
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.1298+2_1298+5dup rs776617733 0.00013
NM_007254.4(PNKP):c.19C>T (p.Pro7Ser) rs201221600 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.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.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+18T>G rs55756709 0.00009
NM_007254.4(PNKP):c.822C>T (p.Asn274=) rs780677866 0.00009
NM_007254.4(PNKP):c.1441G>A (p.Gly481Ser) rs146941866 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.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.883G>A (p.Ala295Thr) rs368887106 0.00006
NM_007254.4(PNKP):c.1163C>T (p.Ser388Leu) rs146311500 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.1126+9C>T rs3739202 0.00004
NM_007254.4(PNKP):c.1177C>T (p.His393Tyr) rs772610025 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.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.61C>G (p.Pro21Ala) rs201748578 0.00004
NM_007254.4(PNKP):c.1042C>T (p.Arg348Cys) rs530663093 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.1308G>C (p.Gln436His) rs780067167 0.00003
NM_007254.4(PNKP):c.1483T>C (p.Phe495Leu) rs1165689250 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.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.961T>C (p.Phe321Leu) rs1210892846 0.00003
NM_007254.4(PNKP):c.979T>C (p.Phe327Leu) rs912223009 0.00003
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.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.1370C>T (p.Ala457Val) rs776349198 0.00002
NM_007254.4(PNKP):c.1511G>A (p.Arg504Gln) rs745651405 0.00002
NM_007254.4(PNKP):c.248T>C (p.Leu83Ser) rs756169949 0.00002
NM_007254.4(PNKP):c.314G>A (p.Arg105His) rs535302504 0.00002
NM_007254.4(PNKP):c.344A>G (p.Gln115Arg) rs200055661 0.00002
NM_007254.4(PNKP):c.673G>A (p.Gly225Arg) rs144257114 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.936+6G>A rs751664776 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.1046C>T (p.Ser349Leu) rs758045226 0.00001
NM_007254.4(PNKP):c.1048G>C (p.Gly350Arg) rs750098786 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.1087G>A (p.Ala363Thr) rs1187151464 0.00001
NM_007254.4(PNKP):c.10G>T (p.Val4Leu) rs530767303 0.00001
NM_007254.4(PNKP):c.1108G>A (p.Ala370Thr) rs945654606 0.00001
NM_007254.4(PNKP):c.1126+5G>A rs1385764453 0.00001
NM_007254.4(PNKP):c.1129G>A (p.Gly377Arg) rs777457079 0.00001
NM_007254.4(PNKP):c.1145T>C (p.Leu382Pro) rs796052855 0.00001
NM_007254.4(PNKP):c.1193C>T (p.Thr398Met) rs1010036717 0.00001
NM_007254.4(PNKP):c.1210C>T (p.Arg404Cys) rs768304312 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.1235C>T (p.Ala412Val) rs1060502500 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.1282G>A (p.Ala428Thr) rs1568659088 0.00001
NM_007254.4(PNKP):c.1295C>T (p.Ala432Val) rs1568658987 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.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.1384C>T (p.Arg462Trp) rs778893834 0.00001
NM_007254.4(PNKP):c.1387-3C>G rs1470343514 0.00001
NM_007254.4(PNKP):c.1389T>G (p.Phe463Leu) rs763116781 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.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.151G>C (p.Val51Leu) rs753839317 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.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.199-7T>A rs904994238 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.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.520G>A (p.Gly174Arg) rs142770020 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.602G>A (p.Arg201His) rs150253619 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.637C>T (p.Leu213=) rs770006231 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.744+8T>C rs587784370 0.00001
NM_007254.4(PNKP):c.758C>T (p.Thr253Met) rs538161505 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.788C>T (p.Thr263Met) rs766704284 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.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+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.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
NC_000019.10:g.(?_49861228)_(49861901_?)del
NC_000019.10:g.(?_49861228)_(49867224_?)dup
NM_007254.4(PNKP):c.*23A>C rs886054582
NM_007254.4(PNKP):c.-105G>A rs886054585
NM_007254.4(PNKP):c.-21G>C rs893501652
NM_007254.4(PNKP):c.1001C>T (p.Ala334Val) rs571217111
NM_007254.4(PNKP):c.1003G>T (p.Gly335Cys) rs768567927
NM_007254.4(PNKP):c.1006T>G (p.Phe336Val) rs747297456
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.1030-22_1041dup rs2122325507
NM_007254.4(PNKP):c.1043G>A (p.Arg348His) rs781551273
NM_007254.4(PNKP):c.1047A>T (p.Ser349=)
NM_007254.4(PNKP):c.1049G>A (p.Gly350Glu) rs2122325421
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.109C>G (p.Pro37Ala) rs536541839
NM_007254.4(PNKP):c.1113G>A (p.Val371=) rs1409679685
NM_007254.4(PNKP):c.1126+15C>T rs748643212
NM_007254.4(PNKP):c.1126+4A>G rs2122324733
NM_007254.4(PNKP):c.1126+5G>C rs1385764453
NM_007254.4(PNKP):c.1127-20C>T
NM_007254.4(PNKP):c.1127-3C>T
NM_007254.4(PNKP):c.1127-9C>A
NM_007254.4(PNKP):c.1133A>C (p.Lys378Thr) rs1600416892
NM_007254.4(PNKP):c.1144C>G (p.Leu382Val) rs754921430
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.1188+5G>A
NM_007254.4(PNKP):c.1189-5C>A rs752826211
NM_007254.4(PNKP):c.1198G>C (p.Gly400Arg) rs1568659304
NM_007254.4(PNKP):c.121G>C (p.Val41Leu) rs2074826079
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.1231_1234del (p.Thr411fs) rs886054583
NM_007254.4(PNKP):c.124A>G (p.Thr42Ala) rs2074826042
NM_007254.4(PNKP):c.1258G>A (p.Ala420Thr) rs754981151
NM_007254.4(PNKP):c.1263C>G (p.Ile421Met)
NM_007254.4(PNKP):c.1264G>C (p.Asp422His)
NM_007254.4(PNKP):c.1270_1281dup (p.Thr424_Asp427dup) rs1258095629
NM_007254.4(PNKP):c.1276C>G (p.Pro426Ala)
NM_007254.4(PNKP):c.1282G>T (p.Ala428Ser) rs1568659088
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.1286C>G (p.Ala429Gly) rs769707108
NM_007254.4(PNKP):c.1288_1298+1del rs1555810849
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.1295_1298+6dup
NM_007254.4(PNKP):c.1296_1297insCCC (p.Ala432_Arg433insPro)
NM_007254.4(PNKP):c.1298+19dup rs1298736755
NM_007254.4(PNKP):c.1303_1305del (p.Val435del) rs2074764505
NM_007254.4(PNKP):c.1304T>C (p.Val435Ala)
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.1319C>G (p.Ala440Gly) rs377688490
NM_007254.4(PNKP):c.131G>A (p.Arg44Gln) rs1568663138
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.1325G>A (p.Gly442Asp) rs1360064159
NM_007254.4(PNKP):c.1327G>T (p.Val443Phe) rs1421167718
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.1358C>A (p.Thr453Asn) rs1455514180
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.1363G>A (p.Glu455Lys) rs2122318761
NM_007254.4(PNKP):c.1367A>G (p.Gln456Arg)
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.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.1390C>A (p.Arg464=) 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.1400C>A (p.Thr467Lys) rs769109631
NM_007254.4(PNKP):c.1402G>A (p.Asp468Asn) rs778647353
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.1424C>T (p.Ser475Leu) rs1600414629
NM_007254.4(PNKP):c.1435A>G (p.Met479Val) rs1264163330
NM_007254.4(PNKP):c.1436T>C (p.Met479Thr)
NM_007254.4(PNKP):c.1459G>A (p.Glu487Lys)
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.1482C>A (p.Gly494=) rs60279874
NM_007254.4(PNKP):c.1494C>G (p.Ile498Met) rs368390840
NM_007254.4(PNKP):c.1499A>G (p.Glu500Gly) rs2074753789
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+6C>A
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.1516T>C (p.Trp506Arg) rs2074753341
NM_007254.4(PNKP):c.1518G>C (p.Trp506Cys) rs2122315682
NM_007254.4(PNKP):c.152-17A>C
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.153G>A (p.Val51=) rs2074821167
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.1558G>A (p.Glu520Lys) rs770823063
NM_007254.4(PNKP):c.1566A>G (p.Ter522Trp) rs2122315087
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.199-8_199-5del rs751037387
NM_007254.4(PNKP):c.200T>G (p.Leu67Arg) rs747002499
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.241C>T (p.Pro81Ser) rs1231251848
NM_007254.4(PNKP):c.251A>C (p.Glu84Ala) rs2074810716
NM_007254.4(PNKP):c.266T>C (p.Val89Ala)
NM_007254.4(PNKP):c.26_27delinsTT (p.Arg9Leu) rs2074827288
NM_007254.4(PNKP):c.277C>G (p.Leu93Val)
NM_007254.4(PNKP):c.302C>T (p.Pro101Leu) rs587784367
NM_007254.4(PNKP):c.30G>T (p.Leu10Phe) rs376146751
NM_007254.4(PNKP):c.311T>C (p.Leu104Pro) rs1159790949
NM_007254.4(PNKP):c.314G>T (p.Arg105Leu)
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.33G>T (p.Trp11Cys) rs577282123
NM_007254.4(PNKP):c.349G>C (p.Asp117His)
NM_007254.4(PNKP):c.356C>A (p.Pro119Gln) rs1477930328
NM_007254.4(PNKP):c.365C>T (p.Thr122Ile)
NM_007254.4(PNKP):c.368C>A (p.Pro123His)
NM_007254.4(PNKP):c.374T>C (p.Val125Ala)
NM_007254.4(PNKP):c.386AGA[1] (p.Lys130del)
NM_007254.4(PNKP):c.394G>C (p.Asp132His) rs1555811583
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.41G>A (p.Ser14Asn) rs749769775
NM_007254.4(PNKP):c.421C>T (p.Arg141Trp) rs755037999
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.446A>G (p.Asn149Ser)
NM_007254.4(PNKP):c.457T>C (p.Leu153=) rs587784368
NM_007254.4(PNKP):c.469A>G (p.Thr157Ala) rs376383779
NM_007254.4(PNKP):c.47C>T (p.Pro16Leu)
NM_007254.4(PNKP):c.496A>C (p.Lys166Gln) rs2074808568
NM_007254.4(PNKP):c.498+3G>T rs2074808518
NM_007254.4(PNKP):c.498G>T (p.Lys166Asn) rs141251138
NM_007254.4(PNKP):c.513T>G (p.Asp171Glu) rs929865929
NM_007254.4(PNKP):c.524C>T (p.Thr175Met) rs2074802994
NM_007254.4(PNKP):c.527T>C (p.Leu176Pro)
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.576G>C (p.Trp192Cys)
NM_007254.4(PNKP):c.580A>C (p.Ile194Leu) rs1600420665
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.593A>C (p.Glu198Ala)
NM_007254.4(PNKP):c.598C>A (p.Pro200Thr) rs1555811465
NM_007254.4(PNKP):c.610C>G (p.Arg204Gly)
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+6_636+7del
NM_007254.4(PNKP):c.637-3C>T rs2074800259
NM_007254.4(PNKP):c.639G>T (p.Leu213=)
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.683C>T (p.Pro228Leu) rs2122334512
NM_007254.4(PNKP):c.688GAG[1] (p.Glu231del)
NM_007254.4(PNKP):c.703A>G (p.Lys235Glu) rs2122334434
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+3A>G
NM_007254.4(PNKP):c.745-7_745-6delinsAA
NM_007254.4(PNKP):c.755C>T (p.Ala252Val) rs2122333454
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.816+3G>A rs763767031
NM_007254.4(PNKP):c.816+4_816+22del rs2122333064
NM_007254.4(PNKP):c.817-3T>C rs2074787691
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.831_832delinsCT (p.Pro278Ser)
NM_007254.4(PNKP):c.853A>T (p.Ile285Phe) rs750224965
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>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.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.928G>T (p.Asp310Tyr)
NM_007254.4(PNKP):c.936+5G>A rs954048668
NM_007254.4(PNKP):c.943C>T (p.Leu315Phe)
NM_007254.4(PNKP):c.964G>A (p.Ala322Thr)
NM_007254.4(PNKP):c.986T>C (p.Leu329Pro) rs2074781406

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