ClinVar Miner

List of variants in gene PANK2 studied for Huntington disease-like syndrome

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 405
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HGVS dbSNP gnomAD frequency
NM_001386393.1(PANK2):c.1083-14_1083-9dup rs10679953 0.15963
NM_001386393.1(PANK2):c.*218A>G rs71647860 0.00876
NM_153638.4(PANK2):c.137A>T (p.Asp46Val) rs148036492 0.00346
NM_001386393.1(PANK2):c.960T>C (p.Thr320=) rs149583615 0.00180
NM_153638.4(PANK2):c.-11G>A rs71647826 0.00179
NM_001386393.1(PANK2):c.489G>A (p.Leu163=) rs71647837 0.00164
NM_001386393.1(PANK2):c.*382C>T rs71647861 0.00144
NM_001386393.1(PANK2):c.*541C>T rs886056655 0.00055
NM_153638.4(PANK2):c.34C>T (p.His12Tyr) rs374286033 0.00041
NM_001386393.1(PANK2):c.1265G>A (p.Arg422Gln) rs371369186 0.00032
NM_001386393.1(PANK2):c.780A>G (p.Glu260=) rs375501114 0.00026
NM_001386393.1(PANK2):c.1231G>A (p.Gly411Arg) rs137852959 0.00024
NM_153638.4(PANK2):c.12C>T (p.Leu4=) rs774784800 0.00014
NM_001386393.1(PANK2):c.701A>C (p.Lys234Thr) rs774676518 0.00011
NM_001386393.1(PANK2):c.1065C>G (p.Gly355=) rs564606657 0.00010
NM_001386393.1(PANK2):c.1379C>T (p.Pro460Leu) rs41279408 0.00010
NM_001386393.1(PANK2):c.887A>G (p.Lys296Arg) rs763608502 0.00010
NM_001386393.1(PANK2):c.1189A>C (p.Met397Leu) rs146902739 0.00009
NM_153638.4(PANK2):c.131G>T (p.Arg44Leu) rs200253730 0.00009
NM_001386393.1(PANK2):c.369C>A (p.Ile123=) rs150594400 0.00008
NM_001386393.1(PANK2):c.1332+20G>A rs762399308 0.00007
NM_001386393.1(PANK2):c.624G>A (p.Ala208=) rs78631398 0.00006
NM_001386393.1(PANK2):c.726C>T (p.Val242=) rs375227097 0.00006
NM_001386393.1(PANK2):c.815C>T (p.Pro272Leu) rs368002284 0.00006
NM_001386393.1(PANK2):c.*376A>G rs746515620 0.00005
NM_001386393.1(PANK2):c.434A>G (p.Asn145Ser) rs143474105 0.00005
NM_001386393.1(PANK2):c.803A>G (p.Asp268Gly) rs562740927 0.00005
NM_001386393.1(PANK2):c.*534A>G rs780398812 0.00004
NM_001386393.1(PANK2):c.1255A>G (p.Ile419Val) rs761156912 0.00004
NM_001386393.1(PANK2):c.585G>A (p.Ser195=) rs751910368 0.00004
NM_001386393.1(PANK2):c.816G>A (p.Pro272=) rs772119893 0.00004
NM_001386393.1(PANK2):c.881A>T (p.Asn294Ile) rs752078407 0.00004
NM_001386393.1(PANK2):c.988C>T (p.Arg330Cys) rs201329683 0.00004
NM_153638.4(PANK2):c.66G>T (p.Gly22=) rs144707315 0.00004
NM_001386393.1(PANK2):c.1021C>T (p.Arg341Ter) rs1250997630 0.00003
NM_001386393.1(PANK2):c.1112_1114del (p.Arg371_Glu372delinsGln) rs766251466 0.00003
NM_001386393.1(PANK2):c.905+14A>T rs745860566 0.00003
NM_001386393.1(PANK2):c.906-4A>C rs761546373 0.00003
NM_153638.4(PANK2):c.37T>C (p.Trp13Arg) rs971003044 0.00003
NM_153638.4(PANK2):c.95C>T (p.Thr32Ile) rs530609127 0.00003
NM_001386393.1(PANK2):c.1207-11G>C rs753139032 0.00002
NM_001386393.1(PANK2):c.1323G>A (p.Ser441=) rs776868989 0.00002
NM_001386393.1(PANK2):c.466G>A (p.Val156Met) rs753145257 0.00002
NM_001386393.1(PANK2):c.694T>C (p.Leu232=) rs143090515 0.00002
NM_001386393.1(PANK2):c.739C>T (p.Arg247Trp) rs753376100 0.00002
NM_001386393.1(PANK2):c.744A>C (p.Ser248=) rs778370524 0.00002
NM_001386393.1(PANK2):c.846_847del (p.Gly283_Val284insTer) rs778550409 0.00002
NM_153638.4(PANK2):c.114C>T (p.Thr38=) rs200506776 0.00002
NM_001386393.1(PANK2):c.*391C>G rs1273989006 0.00001
NM_001386393.1(PANK2):c.*407A>G rs886056654 0.00001
NM_001386393.1(PANK2):c.1025A>G (p.Asp342Gly) rs763496520 0.00001
NM_001386393.1(PANK2):c.1038G>A (p.Gly346=) rs768111750 0.00001
NM_001386393.1(PANK2):c.1068G>T (p.Trp356Cys) rs767222898 0.00001
NM_001386393.1(PANK2):c.1083-1G>T rs148987163 0.00001
NM_001386393.1(PANK2):c.1083-20T>C rs767566162 0.00001
NM_001386393.1(PANK2):c.1083-4A>C rs562997544 0.00001
NM_001386393.1(PANK2):c.1111C>T (p.Arg371Ter) rs137852968 0.00001
NM_001386393.1(PANK2):c.1167C>T (p.Asn389=) rs776309099 0.00001
NM_001386393.1(PANK2):c.1263G>A (p.Met421Ile) rs1600571977 0.00001
NM_001386393.1(PANK2):c.1322C>T (p.Ser441Leu) rs967346135 0.00001
NM_001386393.1(PANK2):c.1332+10C>T rs775900554 0.00001
NM_001386393.1(PANK2):c.324C>T (p.Ile108=) rs756145631 0.00001
NM_001386393.1(PANK2):c.350A>G (p.Tyr117Cys) rs1555787646 0.00001
NM_001386393.1(PANK2):c.353T>C (p.Phe118Ser) rs1360807330 0.00001
NM_001386393.1(PANK2):c.370A>G (p.Thr124Ala) rs137852965 0.00001
NM_001386393.1(PANK2):c.384A>G (p.Glu128=) rs1168477276 0.00001
NM_001386393.1(PANK2):c.440_441insCT (p.Tyr148fs) rs1375490128 0.00001
NM_001386393.1(PANK2):c.460C>T (p.Arg154Trp) rs137852961 0.00001
NM_001386393.1(PANK2):c.461G>A (p.Arg154Gln) rs368682034 0.00001
NM_001386393.1(PANK2):c.474C>T (p.Leu158=) rs572915908 0.00001
NM_001386393.1(PANK2):c.502C>T (p.Arg168Cys) rs137852966 0.00001
NM_001386393.1(PANK2):c.506A>G (p.Lys169Arg) rs975735144 0.00001
NM_001386393.1(PANK2):c.526C>T (p.Arg176Cys) rs137852962 0.00001
NM_001386393.1(PANK2):c.600C>G (p.Val200=) rs778032232 0.00001
NM_001386393.1(PANK2):c.618T>G (p.Gly206=) rs755691919 0.00001
NM_001386393.1(PANK2):c.629A>G (p.Lys210Arg) rs1159023197 0.00001
NM_001386393.1(PANK2):c.651+9T>C rs1194885027 0.00001
NM_001386393.1(PANK2):c.734A>G (p.Asn245Ser) rs746484727 0.00001
NM_001386393.1(PANK2):c.765C>G (p.Asn255Lys) rs1427550015 0.00001
NM_001386393.1(PANK2):c.905+1G>C rs1135401789 0.00001
NM_001386393.1(PANK2):c.953G>A (p.Cys318Tyr) rs1012947103 0.00001
NM_001386393.1(PANK2):c.958A>G (p.Thr320Ala) rs748901841 0.00001
NM_001386393.1(PANK2):c.987del (p.Arg330fs) rs544616523 0.00001
NM_153638.4(PANK2):c.104C>T (p.Pro35Leu) rs769505139 0.00001
NM_153638.4(PANK2):c.48G>A (p.Pro16=) rs982359150 0.00001
NM_153638.4(PANK2):c.79C>A (p.Leu27Ile) rs1427393180 0.00001
NM_153638.4(PANK2):c.96C>T (p.Thr32=) rs398124549 0.00001
GRCh37/hg19 20p13(chr20:3888573-3888925)
NC_000020.10:g.(?_3869748)_(3891497_?)del
NC_000020.10:g.(?_3869748)_(3893301_?)dup
NC_000020.10:g.(?_3888553)_(3888945_?)del
NC_000020.10:g.(?_3891204)_(3893301_?)del
NM_001386393.1(PANK2):c.*40G>C rs1131692166
NM_001386393.1(PANK2):c.*468T>C rs541731517
NM_001386393.1(PANK2):c.*63dup rs143725982
NM_001386393.1(PANK2):c.1002C>G (p.Thr334=) rs2146872723
NM_001386393.1(PANK2):c.1008G>A (p.Val336=)
NM_001386393.1(PANK2):c.1009G>T (p.Asp337Tyr)
NM_001386393.1(PANK2):c.1010A>G (p.Asp337Gly) rs1568575238
NM_001386393.1(PANK2):c.1024G>T (p.Asp342Tyr) rs1568575271
NM_001386393.1(PANK2):c.1025A>C (p.Asp342Ala)
NM_001386393.1(PANK2):c.1025A>T (p.Asp342Val)
NM_001386393.1(PANK2):c.1026T>C (p.Asp342=)
NM_001386393.1(PANK2):c.1035A>T (p.Gly345=)
NM_001386393.1(PANK2):c.1041C>T (p.Asp347=)
NM_001386393.1(PANK2):c.1057C>T (p.Leu353=)
NM_001386393.1(PANK2):c.1061C>G (p.Pro354Arg)
NM_001386393.1(PANK2):c.1071T>C (p.Ala357=)
NM_001386393.1(PANK2):c.1080A>C (p.Ser360=)
NM_001386393.1(PANK2):c.1082+11A>G
NM_001386393.1(PANK2):c.1082+12TG[4]
NM_001386393.1(PANK2):c.1082+19del
NM_001386393.1(PANK2):c.1082+1G>C rs1600548506
NM_001386393.1(PANK2):c.1082+20C>T
NM_001386393.1(PANK2):c.1082+9_1082+10dup
NM_001386393.1(PANK2):c.1082G>A (p.Ser361Asn) rs137852963
NM_001386393.1(PANK2):c.1083-10C>T rs1442070301
NM_001386393.1(PANK2):c.1083-12C>T
NM_001386393.1(PANK2):c.1083-13T>C
NM_001386393.1(PANK2):c.1083-13del
NM_001386393.1(PANK2):c.1083-14_1083-13insCCCCCT rs1555789541
NM_001386393.1(PANK2):c.1083-14_1083-13insCCCCT
NM_001386393.1(PANK2):c.1083-16T>G
NM_001386393.1(PANK2):c.1083-18T>C
NM_001386393.1(PANK2):c.1083-1G>A
NM_001386393.1(PANK2):c.1083-3_1083-2del rs760705943
NM_001386393.1(PANK2):c.1083-5C>T
NM_001386393.1(PANK2):c.1083-9_1083-8insTTCCCT
NM_001386393.1(PANK2):c.1086del (p.Phe362fs) rs2146887806
NM_001386393.1(PANK2):c.1090_1096del (p.Gly363_Asn364insTer)
NM_001386393.1(PANK2):c.1094T>C (p.Met365Thr)
NM_001386393.1(PANK2):c.1096_1099del (p.Met366fs) rs1555789557
NM_001386393.1(PANK2):c.1097T>A (p.Met366Lys)
NM_001386393.1(PANK2):c.1100G>A (p.Ser367Asn)
NM_001386393.1(PANK2):c.1102A>G (p.Lys368Glu) rs559623184
NM_001386393.1(PANK2):c.1111C>G (p.Arg371Gly)
NM_001386393.1(PANK2):c.1112G>A (p.Arg371Gln) rs1241995212
NM_001386393.1(PANK2):c.1112G>C (p.Arg371Pro) rs1241995212
NM_001386393.1(PANK2):c.1119T>C (p.Ala373=)
NM_001386393.1(PANK2):c.1122C>G (p.Val374=)
NM_001386393.1(PANK2):c.1129G>A (p.Glu377Lys)
NM_001386393.1(PANK2):c.1139C>T (p.Ala380Val)
NM_001386393.1(PANK2):c.1140C>G (p.Ala380=)
NM_001386393.1(PANK2):c.1143A>C (p.Arg381Ser)
NM_001386393.1(PANK2):c.1145C>T (p.Ala382Val)
NM_001386393.1(PANK2):c.1151T>C (p.Leu384Ser) rs111863748
NM_001386393.1(PANK2):c.1152G>C (p.Leu384Phe)
NM_001386393.1(PANK2):c.1160T>C (p.Ile387Thr) rs2090571848
NM_001386393.1(PANK2):c.1170C>T (p.Asn390=)
NM_001386393.1(PANK2):c.1171_1174dup (p.Gly392fs)
NM_001386393.1(PANK2):c.1172T>A (p.Ile391Asn)
NM_001386393.1(PANK2):c.1172T>C (p.Ile391Thr)
NM_001386393.1(PANK2):c.1184C>A (p.Ala395Glu)
NM_001386393.1(PANK2):c.1188A>T (p.Arg396Ser)
NM_001386393.1(PANK2):c.1189del (p.Met397fs)
NM_001386393.1(PANK2):c.1195G>A (p.Ala399Thr)
NM_001386393.1(PANK2):c.1196C>T (p.Ala399Val)
NM_001386393.1(PANK2):c.1201A>G (p.Asn401Asp)
NM_001386393.1(PANK2):c.1206+11A>C
NM_001386393.1(PANK2):c.1206+11A>G
NM_001386393.1(PANK2):c.1206+19_1206+22del
NM_001386393.1(PANK2):c.1206+9A>G
NM_001386393.1(PANK2):c.1207-11G>A
NM_001386393.1(PANK2):c.1207-12dup rs1252234662
NM_001386393.1(PANK2):c.1207-16T>C
NM_001386393.1(PANK2):c.1207-17T>C rs1483932495
NM_001386393.1(PANK2):c.1207-20C>A
NM_001386393.1(PANK2):c.1207-3C>G rs370766524
NM_001386393.1(PANK2):c.1207-5C>T
NM_001386393.1(PANK2):c.1207-6G>A
NM_001386393.1(PANK2):c.1216C>G (p.Gln406Glu) rs1183095944
NM_001386393.1(PANK2):c.1248_1256del (p.Asn417_Ile419del)
NM_001386393.1(PANK2):c.1254G>A (p.Thr418=)
NM_001386393.1(PANK2):c.1257C>T (p.Ile419=)
NM_001386393.1(PANK2):c.1261_1262del (p.Met421fs)
NM_001386393.1(PANK2):c.1264C>T (p.Arg422Trp)
NM_001386393.1(PANK2):c.1275A>G (p.Ala425=)
NM_001386393.1(PANK2):c.1277A>G (p.Tyr426Cys) rs1193865095
NM_001386393.1(PANK2):c.1278T>C (p.Tyr426=)
NM_001386393.1(PANK2):c.1285G>T (p.Asp429Tyr)
NM_001386393.1(PANK2):c.1309A>G (p.Lys437Glu) rs2146893030
NM_001386393.1(PANK2):c.1314A>G (p.Ala438=)
NM_001386393.1(PANK2):c.1318T>C (p.Phe440Leu) rs138402319
NM_001386393.1(PANK2):c.1329C>T (p.His443=)
NM_001386393.1(PANK2):c.1330G>A (p.Glu444Lys)
NM_001386393.1(PANK2):c.1332+14T>G
NM_001386393.1(PANK2):c.1332+16C>A rs142997448
NM_001386393.1(PANK2):c.1332+16C>T
NM_001386393.1(PANK2):c.1332+17G>A
NM_001386393.1(PANK2):c.1332+8G>C
NM_001386393.1(PANK2):c.1333-12A>G rs749532706
NM_001386393.1(PANK2):c.1333-16G>T
NM_001386393.1(PANK2):c.1333-29_1333-8del
NM_001386393.1(PANK2):c.1333-4T>A
NM_001386393.1(PANK2):c.1333-8T>C
NM_001386393.1(PANK2):c.1336T>C (p.Tyr446His) rs2090674561
NM_001386393.1(PANK2):c.1352_1371del (p.Gly451fs) rs2090674600
NM_001386393.1(PANK2):c.1354G>A (p.Ala452Thr) rs886056652
NM_001386393.1(PANK2):c.1357C>T (p.Leu453Phe)
NM_001386393.1(PANK2):c.1358T>A (p.Leu453His)
NM_001386393.1(PANK2):c.1368G>A (p.Leu456=)
NM_001386393.1(PANK2):c.1370T>A (p.Leu457Ter)
NM_001386393.1(PANK2):c.1380G>A (p.Pro460=)
NM_001386393.1(PANK2):c.1380G>T (p.Pro460=)
NM_001386393.1(PANK2):c.1383A>G (p.Ter461Trp)
NM_001386393.1(PANK2):c.299-12T>C
NM_001386393.1(PANK2):c.299-12T>G
NM_001386393.1(PANK2):c.299-14del
NM_001386393.1(PANK2):c.299-1G>A
NM_001386393.1(PANK2):c.299-6A>G
NM_001386393.1(PANK2):c.299-9C>G rs2090412291
NM_001386393.1(PANK2):c.308G>A (p.Trp103Ter)
NM_001386393.1(PANK2):c.314G>A (p.Gly105Glu) rs762879569
NM_001386393.1(PANK2):c.317T>A (p.Leu106Gln)
NM_001386393.1(PANK2):c.317dup (p.Asp107fs) rs2146859220
NM_001386393.1(PANK2):c.322A>C (p.Ile108Leu) rs188211202
NM_001386393.1(PANK2):c.325G>A (p.Gly109Ser)
NM_001386393.1(PANK2):c.327T>G (p.Gly109=)
NM_001386393.1(PANK2):c.336G>A (p.Leu112=)
NM_001386393.1(PANK2):c.336G>T (p.Leu112=)
NM_001386393.1(PANK2):c.339C>T (p.Val113=)
NM_001386393.1(PANK2):c.345G>A (p.Leu115=)
NM_001386393.1(PANK2):c.348A>G (p.Val116=)
NM_001386393.1(PANK2):c.348A>T (p.Val116=)
NM_001386393.1(PANK2):c.358C>T (p.Pro120Ser) rs2146859332
NM_001386393.1(PANK2):c.367A>G (p.Ile123Val) rs2146859343
NM_001386393.1(PANK2):c.369C>T (p.Ile123=)
NM_001386393.1(PANK2):c.371_380del (p.Thr124fs)
NM_001386393.1(PANK2):c.381A>G (p.Glu127=)
NM_001386393.1(PANK2):c.383A>G (p.Glu128Gly) rs2090413830
NM_001386393.1(PANK2):c.387G>A (p.Glu129=)
NM_001386393.1(PANK2):c.393A>C (p.Glu131Asp)
NM_001386393.1(PANK2):c.394G>C (p.Val132Leu)
NM_001386393.1(PANK2):c.415_495dup (p.Arg139_Leu165dup) rs1568569482
NM_001386393.1(PANK2):c.422A>G (p.Tyr141Cys)
NM_001386393.1(PANK2):c.425T>A (p.Leu142Gln)
NM_001386393.1(PANK2):c.425T>G (p.Leu142Arg) rs2146859529
NM_001386393.1(PANK2):c.431C>T (p.Ser144Phe)
NM_001386393.1(PANK2):c.441T>G (p.Ala147=)
NM_001386393.1(PANK2):c.444T>C (p.Tyr148=)
NM_001386393.1(PANK2):c.445G>A (p.Gly149Arg)
NM_001386393.1(PANK2):c.450T>C (p.Ser150=)
NM_001386393.1(PANK2):c.451A>G (p.Thr151Ala)
NM_001386393.1(PANK2):c.465C>T (p.Asp155=)
NM_001386393.1(PANK2):c.475G>A (p.Glu159Lys) rs778263915
NM_001386393.1(PANK2):c.477G>A (p.Glu159=)
NM_001386393.1(PANK2):c.493C>T (p.Leu165=)
NM_001386393.1(PANK2):c.493_494del (p.Leu165fs) rs750440690
NM_001386393.1(PANK2):c.498_499del (p.Cys166fs)
NM_001386393.1(PANK2):c.502_503delinsAC (p.Arg168Thr)
NM_001386393.1(PANK2):c.503G>A (p.Arg168His)
NM_001386393.1(PANK2):c.519C>A (p.His173Gln) rs2090416889
NM_001386393.1(PANK2):c.521_525dup (p.Arg176fs) rs1600534514
NM_001386393.1(PANK2):c.522T>C (p.Phe174=)
NM_001386393.1(PANK2):c.526C>G (p.Arg176Gly)
NM_001386393.1(PANK2):c.566G>A (p.Gly189Asp) rs975841680
NM_001386393.1(PANK2):c.579del (p.Phe194fs) rs1568569941
NM_001386393.1(PANK2):c.597T>G (p.Thr199=)
NM_001386393.1(PANK2):c.600_606del (p.Phe201fs) rs879253712
NM_001386393.1(PANK2):c.604dup (p.Cys202fs)
NM_001386393.1(PANK2):c.606T>A (p.Cys202Ter) rs1555787799
NM_001386393.1(PANK2):c.609C>A (p.Ala203=)
NM_001386393.1(PANK2):c.624G>T (p.Ala208=) rs78631398
NM_001386393.1(PANK2):c.632T>G (p.Phe211Cys)
NM_001386393.1(PANK2):c.635A>G (p.Glu212Gly)
NM_001386393.1(PANK2):c.636G>A (p.Glu212=)
NM_001386393.1(PANK2):c.636G>T (p.Glu212Asp)
NM_001386393.1(PANK2):c.651+16C>G
NM_001386393.1(PANK2):c.651+19A>G
NM_001386393.1(PANK2):c.651+3A>C rs1131691472
NM_001386393.1(PANK2):c.651+3A>G rs1131691472
NM_001386393.1(PANK2):c.651+7A>G
NM_001386393.1(PANK2):c.652-11T>C
NM_001386393.1(PANK2):c.652-12A>G
NM_001386393.1(PANK2):c.652-14T>C
NM_001386393.1(PANK2):c.652-15C>T
NM_001386393.1(PANK2):c.652-16T>A
NM_001386393.1(PANK2):c.652-18A>C rs200451247
NM_001386393.1(PANK2):c.652-18A>G
NM_001386393.1(PANK2):c.652-19C>T
NM_001386393.1(PANK2):c.652-1G>C rs2146866687
NM_001386393.1(PANK2):c.652-2A>G
NM_001386393.1(PANK2):c.652-7A>G
NM_001386393.1(PANK2):c.652-9_652-5del
NM_001386393.1(PANK2):c.652A>G (p.Ile218Val)
NM_001386393.1(PANK2):c.655G>T (p.Gly219Cys) rs2146866714
NM_001386393.1(PANK2):c.664C>T (p.Gln222Ter) rs777414421
NM_001386393.1(PANK2):c.675A>G (p.Lys225=)
NM_001386393.1(PANK2):c.676C>T (p.Leu226=)
NM_001386393.1(PANK2):c.687A>G (p.Leu229=)
NM_001386393.1(PANK2):c.695T>C (p.Leu232Ser)
NM_001386393.1(PANK2):c.696G>A (p.Leu232=)
NM_001386393.1(PANK2):c.706A>G (p.Ile236Val) rs2090454168
NM_001386393.1(PANK2):c.710T>C (p.Leu237Ser)
NM_001386393.1(PANK2):c.713A>T (p.Tyr238Phe)
NM_001386393.1(PANK2):c.714C>T (p.Tyr238=)
NM_001386393.1(PANK2):c.717T>C (p.Ile239=) rs1742717583
NM_001386393.1(PANK2):c.721T>C (p.Ser241Pro) rs137852964
NM_001386393.1(PANK2):c.723A>G (p.Ser241=)
NM_001386393.1(PANK2):c.728G>A (p.Gly243Glu) rs2146866985
NM_001386393.1(PANK2):c.731T>G (p.Phe244Cys)
NM_001386393.1(PANK2):c.738A>G (p.Gly246=)
NM_001386393.1(PANK2):c.740G>C (p.Arg247Pro) rs754521581
NM_001386393.1(PANK2):c.747G>A (p.Gln249=)
NM_001386393.1(PANK2):c.750C>T (p.Cys250=)
NM_001386393.1(PANK2):c.752A>G (p.Tyr251Cys) rs1568572918
NM_001386393.1(PANK2):c.755_758del (p.Tyr252fs) rs1600542260
NM_001386393.1(PANK2):c.756C>A (p.Tyr252Ter) rs1600542275
NM_001386393.1(PANK2):c.759T>C (p.Phe253=)
NM_001386393.1(PANK2):c.766C>A (p.Pro256Thr) rs777624606
NM_001386393.1(PANK2):c.766C>G (p.Pro256Ala) rs777624606
NM_001386393.1(PANK2):c.767del (p.Pro256fs) rs753400880
NM_001386393.1(PANK2):c.769G>T (p.Ala257Ser) rs1568572979
NM_001386393.1(PANK2):c.774T>C (p.Asp258=)
NM_001386393.1(PANK2):c.776C>G (p.Ser259Cys)
NM_001386393.1(PANK2):c.783G>A (p.Lys261=)
NM_001386393.1(PANK2):c.785G>A (p.Cys262Tyr) rs149907912
NM_001386393.1(PANK2):c.802G>T (p.Asp268Tyr)
NM_001386393.1(PANK2):c.806del (p.Asp268_Leu269insTer)
NM_001386393.1(PANK2):c.813T>C (p.Asn271=)
NM_001386393.1(PANK2):c.817T>C (p.Tyr273His)
NM_001386393.1(PANK2):c.819T>C (p.Tyr273=)
NM_001386393.1(PANK2):c.832dup (p.Val278fs) rs2090456897
NM_001386393.1(PANK2):c.838A>G (p.Ile280Val)
NM_001386393.1(PANK2):c.845C>T (p.Ser282Leu) rs2090457090
NM_001386393.1(PANK2):c.849G>A (p.Gly283=)
NM_001386393.1(PANK2):c.854G>A (p.Ser285Asn) rs2146867465
NM_001386393.1(PANK2):c.858C>T (p.Ile286=)
NM_001386393.1(PANK2):c.865G>C (p.Val289Leu) rs1011938873
NM_001386393.1(PANK2):c.868T>C (p.Tyr290His) rs1183615976
NM_001386393.1(PANK2):c.873C>A (p.Ser291=)
NM_001386393.1(PANK2):c.873C>G (p.Ser291=)
NM_001386393.1(PANK2):c.876A>G (p.Lys292=)
NM_001386393.1(PANK2):c.882T>G (p.Asn294Lys) rs758080048
NM_001386393.1(PANK2):c.883T>G (p.Tyr295Asp) rs1288629241
NM_001386393.1(PANK2):c.885C>G (p.Tyr295Ter)
NM_001386393.1(PANK2):c.887A>T (p.Lys296Ile)
NM_001386393.1(PANK2):c.891G>T (p.Arg297=)
NM_001386393.1(PANK2):c.905+10A>G
NM_001386393.1(PANK2):c.905+10A>T
NM_001386393.1(PANK2):c.905+18C>T rs2146867647
NM_001386393.1(PANK2):c.905+1G>T rs1135401789
NM_001386393.1(PANK2):c.906-12T>A
NM_001386393.1(PANK2):c.906-12T>G
NM_001386393.1(PANK2):c.906-13T>G
NM_001386393.1(PANK2):c.906-18_906-15del
NM_001386393.1(PANK2):c.906-19T>A
NM_001386393.1(PANK2):c.906-21_906-19del
NM_001386393.1(PANK2):c.906-2A>C rs1261714833
NM_001386393.1(PANK2):c.906-8A>C
NM_001386393.1(PANK2):c.906-99_929del rs2146872050
NM_001386393.1(PANK2):c.920_921dup (p.Phe308fs) rs1555788619
NM_001386393.1(PANK2):c.923T>G (p.Phe308Cys) rs2146872412
NM_001386393.1(PANK2):c.927del (p.Phe309fs) rs1568574931
NM_001386393.1(PANK2):c.932T>G (p.Leu311Arg) rs2146872437
NM_001386393.1(PANK2):c.940CTT[1] (p.Leu315del) rs1064794317
NM_001386393.1(PANK2):c.944T>C (p.Leu315Pro) rs2146872522
NM_001386393.1(PANK2):c.946A>G (p.Thr316Ala)
NM_001386393.1(PANK2):c.949_961del (p.Gly317fs)
NM_001386393.1(PANK2):c.951C>G (p.Gly317=)
NM_001386393.1(PANK2):c.951C>T (p.Gly317=)
NM_001386393.1(PANK2):c.971C>A (p.Ala324Asp) rs1031848408
NM_001386393.1(PANK2):c.978A>G (p.Glu326=) rs1427408420
NM_001386393.1(PANK2):c.980T>C (p.Met327Thr) rs28939088
NM_001386393.1(PANK2):c.987T>C (p.Ser329=)
NM_001386393.1(PANK2):c.989G>A (p.Arg330His)
NM_153638.4(PANK2):c.105C>T (p.Pro35=)
NM_153638.4(PANK2):c.108C>T (p.Ser36=)
NM_153638.4(PANK2):c.113C>A (p.Thr38Asn) rs1426406978
NM_153638.4(PANK2):c.114C>A (p.Thr38=)
NM_153638.4(PANK2):c.117C>A (p.Thr39=)
NM_153638.4(PANK2):c.118C>T (p.Leu40Phe)
NM_153638.4(PANK2):c.123C>T (p.Ser41=)
NM_153638.4(PANK2):c.126G>T (p.Pro42=)
NM_153638.4(PANK2):c.126del (p.Arg44fs) rs1600474748
NM_153638.4(PANK2):c.129C>T (p.Pro43=)
NM_153638.4(PANK2):c.12C>G (p.Leu4=)
NM_153638.4(PANK2):c.141C>T (p.Ser47=)
NM_153638.4(PANK2):c.148T>C (p.Leu50=)
NM_153638.4(PANK2):c.14G>A (p.Gly5Glu)
NM_153638.4(PANK2):c.153C>T (p.Asp51=)
NM_153638.4(PANK2):c.159C>T (p.Gly53=) rs1485088384
NM_153638.4(PANK2):c.160A>G (p.Thr54Ala) rs2146803538
NM_153638.4(PANK2):c.18C>T (p.Pro6=)
NM_153638.4(PANK2):c.24C>T (p.His8=)
NM_153638.4(PANK2):c.30C>T (p.Arg10=)
NM_153638.4(PANK2):c.31G>A (p.Val11Ile) rs886044063
NM_153638.4(PANK2):c.38G>A (p.Trp13Ter)
NM_153638.4(PANK2):c.42G>A (p.Ala14=)
NM_153638.4(PANK2):c.42_67del (p.Ala15fs) rs760822872
NM_153638.4(PANK2):c.45G>A (p.Ala15=)
NM_153638.4(PANK2):c.54A>G (p.Ser18=) rs886056650
NM_153638.4(PANK2):c.55C>T (p.Leu19Phe) rs1568549056
NM_153638.4(PANK2):c.58T>C (p.Ser20Pro)
NM_153638.4(PANK2):c.66G>A (p.Gly22=)
NM_153638.4(PANK2):c.66G>C (p.Gly22=)
NM_153638.4(PANK2):c.68_69insTG (p.His24fs)
NM_153638.4(PANK2):c.69A>G (p.Leu23=)
NM_153638.4(PANK2):c.7A>C (p.Arg3=)
NM_153638.4(PANK2):c.81C>G (p.Leu27=)
NM_153638.4(PANK2):c.84C>T (p.Phe28=)
NM_153638.4(PANK2):c.89G>C (p.Arg30Pro)
NM_153638.4(PANK2):c.99G>A (p.Arg33=)
NM_153638.4(PANK2):c.9G>A (p.Arg3=)
NM_153638.4(PANK2):c.9G>T (p.Arg3Ser) rs1211425299

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