ClinVar Miner

List of variants in gene PNKP reported as likely benign for infancy electroclinical syndrome

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 410
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HGVS dbSNP gnomAD frequency
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.1299-6C>T rs112635688 0.00067
NM_007254.4(PNKP):c.901C>T (p.Arg301Trp) rs201503405 0.00061
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.1386+41_1386+42del rs765720389 0.00030
NM_007254.4(PNKP):c.498+11C>T rs371375970 0.00027
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.198+9G>A rs370222304 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.1448+13A>G rs748882543 0.00014
NM_007254.4(PNKP):c.1257C>T (p.Val419=) rs369003964 0.00013
NM_007254.4(PNKP):c.730G>C (p.Gly244Arg) rs562480894 0.00013
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.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.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.1515A>G (p.Leu505=) rs369748873 0.00007
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.456G>A (p.Lys152=) rs752339576 0.00006
NM_007254.4(PNKP):c.817-20C>G rs201778535 0.00006
NM_007254.4(PNKP):c.1126+7G>A rs368201882 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.1126+14T>G rs971508207 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.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.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.636+13G>A rs745577158 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.1191C>T (p.Asp397=) rs376011384 0.00003
NM_007254.4(PNKP):c.1302C>T (p.Tyr434=) rs747244348 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.1513C>T (p.Leu505=) rs201661864 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.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.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.1127-7C>T rs772557014 0.00002
NM_007254.4(PNKP):c.1158C>G (p.Leu386=) rs373766090 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.1386+43G>A rs775229994 0.00002
NM_007254.4(PNKP):c.1471C>T (p.Leu491=) rs779306097 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.267G>A (p.Val89=) rs531640505 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.937-10C>T rs376801468 0.00002
NM_007254.4(PNKP):c.948C>T (p.Asn316=) rs1173052486 0.00002
NM_007254.4(PNKP):c.1029+16G>A rs982882766 0.00001
NM_007254.4(PNKP):c.1050G>A (p.Gly350=) rs1194208521 0.00001
NM_007254.4(PNKP):c.1056C>G (p.Leu352=) rs767011520 0.00001
NM_007254.4(PNKP):c.1074G>A (p.Arg358=) rs771883677 0.00001
NM_007254.4(PNKP):c.1107C>T (p.Val369=) rs1233198739 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.1140C>T (p.Thr380=) rs780500233 0.00001
NM_007254.4(PNKP):c.1188+19C>T rs1484018266 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.1200C>T (p.Gly400=) rs1188834887 0.00001
NM_007254.4(PNKP):c.1212C>T (p.Arg404=) rs775042023 0.00001
NM_007254.4(PNKP):c.1233A>G (p.Thr411=) rs1057522305 0.00001
NM_007254.4(PNKP):c.1239G>A (p.Leu413=) rs1488660891 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.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.1323G>A (p.Ala441=) rs778138676 0.00001
NM_007254.4(PNKP):c.1383C>T (p.Asn461=) rs745974624 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.1387-47dup 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.1448+16G>A rs1468792596 0.00001
NM_007254.4(PNKP):c.1448+7T>C rs775646444 0.00001
NM_007254.4(PNKP):c.152-18C>G rs779728115 0.00001
NM_007254.4(PNKP):c.1551G>A (p.Gln517=) rs771913446 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.24C>T (p.Gly8=) rs1057522863 0.00001
NM_007254.4(PNKP):c.267G>T (p.Val89=) rs531640505 0.00001
NM_007254.4(PNKP):c.422G>A (p.Arg141Gln) rs570013652 0.00001
NM_007254.4(PNKP):c.499-7A>C rs909512959 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.60C>T (p.Pro20=) rs1037495706 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.657G>A (p.Gln219=) rs1332607261 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.759G>A (p.Thr253=) rs1057522106 0.00001
NM_007254.4(PNKP):c.762C>T (p.His254=) rs794727920 0.00001
NM_007254.4(PNKP):c.780G>A (p.Lys260=) rs1019739332 0.00001
NM_007254.4(PNKP):c.792C>T (p.Gly264=) rs1188638021 0.00001
NM_007254.4(PNKP):c.817-5C>T rs398124250 0.00001
NM_007254.4(PNKP):c.865+20T>C rs921950177 0.00001
NM_007254.4(PNKP):c.873C>T (p.Ala291=) rs749641401 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.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+19G>A
NM_007254.4(PNKP):c.1029+20G>C rs1239545577
NM_007254.4(PNKP):c.1030-12C>G
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.1030-8C>G
NM_007254.4(PNKP):c.103A>C (p.Arg35=)
NM_007254.4(PNKP):c.1041C>T (p.Ser347=)
NM_007254.4(PNKP):c.1044C>G (p.Arg348=) rs932293072
NM_007254.4(PNKP):c.1050G>T (p.Gly350=) rs1194208521
NM_007254.4(PNKP):c.1065C>G (p.Pro355=)
NM_007254.4(PNKP):c.1065C>T (p.Pro355=) rs569834947
NM_007254.4(PNKP):c.1110A>G (p.Ala370=) rs753408018
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+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.1127-7C>A
NM_007254.4(PNKP):c.1128C>T (p.Ala376=)
NM_007254.4(PNKP):c.1134G>A (p.Lys378=)
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.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+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.1189-46_1189-10del
NM_007254.4(PNKP):c.1215T>C (p.Cys405=) rs2122321900
NM_007254.4(PNKP):c.1218G>C (p.Val406=)
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.1263C>A (p.Ile421=) rs758836805
NM_007254.4(PNKP):c.1263C>T (p.Ile421=) rs758836805
NM_007254.4(PNKP):c.126G>A (p.Thr42=)
NM_007254.4(PNKP):c.126G>C (p.Thr42=)
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.1286_1298+6dup rs760249644
NM_007254.4(PNKP):c.1293C>A (p.Arg431=) rs143390809
NM_007254.4(PNKP):c.1296C>G (p.Ala432=)
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+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.1299-9C>A rs1055654261
NM_007254.4(PNKP):c.1299-9_1299-8delinsTT rs1064794370
NM_007254.4(PNKP):c.1305C>G (p.Val435=)
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.1323G>T (p.Ala441=)
NM_007254.4(PNKP):c.1326C>T (p.Gly442=) rs1159488769
NM_007254.4(PNKP):c.1332C>G (p.Pro444=)
NM_007254.4(PNKP):c.1332C>T (p.Pro444=) rs1354256517
NM_007254.4(PNKP):c.1338C>G (p.Arg446=) rs1487681927
NM_007254.4(PNKP):c.135G>A (p.Lys45=)
NM_007254.4(PNKP):c.1360C>T (p.Leu454=)
NM_007254.4(PNKP):c.1371G>A (p.Ala457=) rs1477817574
NM_007254.4(PNKP):c.1386+15C>T
NM_007254.4(PNKP):c.1386+19G>A
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+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.1387-43C>T
NM_007254.4(PNKP):c.1387-47del
NM_007254.4(PNKP):c.1387-7C>T rs1060504642
NM_007254.4(PNKP):c.1395G>A (p.Glu465=)
NM_007254.4(PNKP):c.1422G>A (p.Val474=) rs1017330396
NM_007254.4(PNKP):c.1422G>C (p.Val474=)
NM_007254.4(PNKP):c.1428C>T (p.Asp476=)
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+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.1464C>T (p.Ala488=)
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>T (p.Ile498=) rs368390840
NM_007254.4(PNKP):c.1497G>T (p.Leu499=)
NM_007254.4(PNKP):c.1500G>A (p.Glu500=) rs1381051164
NM_007254.4(PNKP):c.151+10G>T rs752454809
NM_007254.4(PNKP):c.151+9G>A rs1334243225
NM_007254.4(PNKP):c.1510C>A (p.Arg504=) rs148669160
NM_007254.4(PNKP):c.1512G>C (p.Arg504=) rs2074753438
NM_007254.4(PNKP):c.1512G>T (p.Arg504=)
NM_007254.4(PNKP):c.152-13C>T
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.1536G>A (p.Gly512=) rs766717633
NM_007254.4(PNKP):c.1539G>A (p.Arg513=) rs776243333
NM_007254.4(PNKP):c.1545C>T (p.Tyr515=) rs760131892
NM_007254.4(PNKP):c.1557C>G (p.Ser519=) rs142180374
NM_007254.4(PNKP):c.1560G>A (p.Glu520=)
NM_007254.4(PNKP):c.15G>A (p.Glu5=)
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.222C>T (p.Thr74=)
NM_007254.4(PNKP):c.234G>A (p.Glu78=) rs2122339283
NM_007254.4(PNKP):c.258T>C (p.Ser86=) rs375826483
NM_007254.4(PNKP):c.270G>A (p.Gly90=)
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.300C>T (p.His100=)
NM_007254.4(PNKP):c.321A>G (p.Glu107=) rs2122338975
NM_007254.4(PNKP):c.336A>G (p.Pro112=) rs2122338877
NM_007254.4(PNKP):c.357G>C (p.Pro119=) rs766826936
NM_007254.4(PNKP):c.357G>T (p.Pro119=)
NM_007254.4(PNKP):c.36C>G (p.Leu12=) rs1197600061
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.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.429A>C (p.Ser143=)
NM_007254.4(PNKP):c.42C>T (p.Ser14=) rs751327913
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.460C>T (p.Leu154=) rs933383603
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.498+14C>T
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.51G>A (p.Gly17=)
NM_007254.4(PNKP):c.528C>T (p.Leu176=)
NM_007254.4(PNKP):c.54A>G (p.Gly18=)
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.582C>T (p.Ile194=)
NM_007254.4(PNKP):c.591A>G (p.Pro197=)
NM_007254.4(PNKP):c.606G>A (p.Lys202=) rs767378244
NM_007254.4(PNKP):c.609C>G (p.Leu203=)
NM_007254.4(PNKP):c.612A>G (p.Arg204=) rs1207529903
NM_007254.4(PNKP):c.636+14C>G rs2122335161
NM_007254.4(PNKP):c.636+15C>G rs773988123
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.645C>A (p.Ile215=)
NM_007254.4(PNKP):c.663C>T (p.Ser221=) rs1376565938
NM_007254.4(PNKP):c.666C>T (p.Ile222=) rs587784369
NM_007254.4(PNKP):c.681G>C (p.Leu227=)
NM_007254.4(PNKP):c.69C>T (p.Phe23=) rs2122345008
NM_007254.4(PNKP):c.6C>T (p.Gly2=)
NM_007254.4(PNKP):c.705G>A (p.Lys235=)
NM_007254.4(PNKP):c.744+13G>A
NM_007254.4(PNKP):c.744+18G>A
NM_007254.4(PNKP):c.745-17C>G
NM_007254.4(PNKP):c.745-9C>T rs1555811381
NM_007254.4(PNKP):c.765A>C (p.Ala255=)
NM_007254.4(PNKP):c.801C>T (p.Asp267=)
NM_007254.4(PNKP):c.807G>A (p.Leu269=)
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.817-4G>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.828C>T (p.Gly276=)
NM_007254.4(PNKP):c.840C>T (p.Ser280=) rs754505243
NM_007254.4(PNKP):c.843C>T (p.Ile281=)
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+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.906G>A (p.Lys302=) rs1555811171
NM_007254.4(PNKP):c.927C>T (p.Ala309=)
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+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.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.957G>A (p.Leu319=) rs1600417997
NM_007254.4(PNKP):c.963C>T (p.Phe321=) rs1042120334
NM_007254.4(PNKP):c.999A>T (p.Ala333=) rs1568660146

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