NM_001386393.1(PANK2):c.1265G>A (p.Arg422Gln)
|
rs371369186
|
0.00032
|
NM_000146.4(FTL):c.-177C>T
|
rs988614907
|
0.00012
|
NM_001386393.1(PANK2):c.701A>C (p.Lys234Thr)
|
rs774676518
|
0.00011
|
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_000146.4(FTL):c.155T>G (p.Phe52Cys)
|
rs543242420
|
0.00006
|
NM_001386393.1(PANK2):c.815C>T (p.Pro272Leu)
|
rs368002284
|
0.00006
|
NM_001386393.1(PANK2):c.434A>G (p.Asn145Ser)
|
rs143474105
|
0.00005
|
NM_001386393.1(PANK2):c.-21G>A
|
rs780551883
|
0.00004
|
NM_001386393.1(PANK2):c.182C>T (p.Ser61Leu)
|
rs1375502090
|
0.00004
|
NC_000019.10:g.48965277C>T
|
rs960442161
|
0.00003
|
NM_000146.4(FTL):c.375+4C>T
|
rs369864128
|
0.00003
|
NM_001386393.1(PANK2):c.115G>A (p.Glu39Lys)
|
rs528889529
|
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_000146.4(FTL):c.-46C>A
|
rs768457741
|
0.00002
|
NM_000146.4(FTL):c.466G>A (p.Gly156Ser)
|
rs151265703
|
0.00002
|
NM_001386393.1(PANK2):c.203C>T (p.Ser68Leu)
|
rs137852969
|
0.00002
|
NM_001386393.1(PANK2):c.466G>A (p.Val156Met)
|
rs753145257
|
0.00002
|
NM_153638.4(PANK2):c.187C>T (p.Pro63Ser)
|
rs1452787032
|
0.00002
|
NM_000146.4(FTL):c.-134A>T
|
rs1463766648
|
0.00001
|
NM_000146.4(FTL):c.-190C>T
|
rs1379884083
|
0.00001
|
NM_000146.4(FTL):c.-92T>C
|
rs886054563
|
0.00001
|
NM_000146.4(FTL):c.17G>A (p.Arg6His)
|
rs1012743580
|
0.00001
|
NM_000146.4(FTL):c.1A>G (p.Met1Val)
|
rs139732572
|
0.00001
|
NM_000146.4(FTL):c.207G>A (p.Met69Ile)
|
rs1131691701
|
0.00001
|
NM_000146.4(FTL):c.302T>C (p.Met101Thr)
|
rs750964137
|
0.00001
|
NM_000146.4(FTL):c.362G>A (p.Arg121His)
|
rs769449169
|
0.00001
|
NM_000146.4(FTL):c.375+5G>A
|
rs768867643
|
0.00001
|
NM_000146.4(FTL):c.473C>T (p.Pro158Leu)
|
rs374486686
|
0.00001
|
NM_000146.4(FTL):c.492G>T (p.Glu164Asp)
|
rs770946603
|
0.00001
|
NM_001386393.1(PANK2):c.-20A>C
|
rs748780222
|
0.00001
|
NM_001386393.1(PANK2):c.-32C>T
|
rs1441505244
|
0.00001
|
NM_001386393.1(PANK2):c.1068G>T (p.Trp356Cys)
|
rs767222898
|
0.00001
|
NM_001386393.1(PANK2):c.118C>A (p.Gln40Lys)
|
rs1421161193
|
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.133C>T (p.Pro45Ser)
|
rs745590703
|
0.00001
|
NM_001386393.1(PANK2):c.20G>A (p.Arg7Gln)
|
rs911560228
|
0.00001
|
NM_001386393.1(PANK2):c.25C>T (p.Arg9Ter)
|
rs944348405
|
0.00001
|
NM_001386393.1(PANK2):c.275A>G (p.Glu92Gly)
|
rs775816922
|
0.00001
|
NM_001386393.1(PANK2):c.298+2dup
|
rs1309365137
|
0.00001
|
NM_001386393.1(PANK2):c.37C>T (p.Arg13Trp)
|
rs752138761
|
0.00001
|
NM_001386393.1(PANK2):c.49G>A (p.Gly17Ser)
|
rs1214737069
|
0.00001
|
NM_001386393.1(PANK2):c.506A>G (p.Lys169Arg)
|
rs975735144
|
0.00001
|
NM_001386393.1(PANK2):c.5G>A (p.Gly2Glu)
|
rs774558831
|
0.00001
|
NM_001386393.1(PANK2):c.629A>G (p.Lys210Arg)
|
rs1159023197
|
0.00001
|
NM_001386393.1(PANK2):c.765C>G (p.Asn255Lys)
|
rs1427550015
|
0.00001
|
NM_001386393.1(PANK2):c.7G>A (p.Gly3Ser)
|
rs1432572102
|
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_153638.4(PANK2):c.239C>T (p.Pro80Leu)
|
rs752820848
|
0.00001
|
NM_153638.4(PANK2):c.245G>A (p.Arg82His)
|
rs995058151
|
0.00001
|
NM_153638.4(PANK2):c.272C>G (p.Pro91Arg)
|
rs757651957
|
0.00001
|
NM_153638.4(PANK2):c.79C>A (p.Leu27Ile)
|
rs1427393180
|
0.00001
|
NC_000019.10:g.(?_48966261)_(48966755_?)del
|
|
|
NC_000019.10:g.48965263G>A
|
rs1034875270
|
|
NC_000019.10:g.48965263G>C
|
|
|
NC_000019.10:g.48965270G>C
|
|
|
NC_000019.10:g.48965301dup
|
|
|
NC_000019.10:g.48965303C>T
|
|
|
NC_000019.10:g.48965305C>T
|
|
|
NC_000019.9:g.(?_49468350)_(49481434_?)del
|
|
|
NC_000020.10:g.(?_1959939)_(6760201_?)dup
|
|
|
NC_000020.10:g.(?_3869748)_(3893301_?)dup
|
|
|
NM_000146.4(FTL):c.-10C>T
|
|
|
NM_000146.4(FTL):c.-111C>T
|
|
|
NM_000146.4(FTL):c.-126C>A
|
|
|
NM_000146.4(FTL):c.-139C>T
|
rs2122429898
|
|
NM_000146.4(FTL):c.-143G>A
|
|
|
NM_000146.4(FTL):c.-144A>T
|
|
|
NM_000146.4(FTL):c.-148G>C
|
rs2038438657
|
|
NM_000146.4(FTL):c.-153G>A
|
|
|
NM_000146.4(FTL):c.-153G>T
|
rs2122429855
|
|
NM_000146.4(FTL):c.-170T>C
|
rs2122429714
|
|
NM_000146.4(FTL):c.-173C>G
|
rs1053572388
|
|
NM_000146.4(FTL):c.-179G>A
|
|
|
NM_000146.4(FTL):c.-181G>A
|
|
|
NM_000146.4(FTL):c.-184C>G
|
rs955876864
|
|
NM_000146.4(FTL):c.-186C>T
|
|
|
NM_000146.4(FTL):c.-189G>T
|
rs970038885
|
|
NM_000146.4(FTL):c.-193C>G
|
rs2038437773
|
|
NM_000146.4(FTL):c.-196G>C
|
rs2038437702
|
|
NM_000146.4(FTL):c.-24T>C
|
|
|
NM_000146.4(FTL):c.-51dup
|
rs2122430255
|
|
NM_000146.4(FTL):c.-56G>T
|
|
|
NM_000146.4(FTL):c.-95C>A
|
|
|
NM_000146.4(FTL):c.102G>A (p.Leu34=)
|
|
|
NM_000146.4(FTL):c.113T>C (p.Phe38Ser)
|
rs2038445005
|
|
NM_000146.4(FTL):c.124G>A (p.Asp42Asn)
|
rs11553257
|
|
NM_000146.4(FTL):c.12G>C (p.Gln4His)
|
rs753168179
|
|
NM_000146.4(FTL):c.139G>C (p.Gly47Arg)
|
rs930186818
|
|
NM_000146.4(FTL):c.139G>T (p.Gly47Cys)
|
rs930186818
|
|
NM_000146.4(FTL):c.178C>T (p.Arg60Cys)
|
rs2038446533
|
|
NM_000146.4(FTL):c.189C>A (p.Tyr63Ter)
|
|
|
NM_000146.4(FTL):c.190G>A (p.Glu64Lys)
|
rs11553225
|
|
NM_000146.4(FTL):c.194G>A (p.Arg65His)
|
rs1555797038
|
|
NM_000146.4(FTL):c.218G>T (p.Arg73Leu)
|
rs2122432219
|
|
NM_000146.4(FTL):c.229G>A (p.Ala77Thr)
|
|
|
NM_000146.4(FTL):c.247A>G (p.Lys83Glu)
|
rs770196454
|
|
NM_000146.4(FTL):c.249+3A>G
|
rs2038447850
|
|
NM_000146.4(FTL):c.249+6T>C
|
|
|
NM_000146.4(FTL):c.253C>T (p.Pro85Ser)
|
|
|
NM_000146.4(FTL):c.256G>C (p.Ala86Pro)
|
rs773293832
|
|
NM_000146.4(FTL):c.261A>C (p.Glu87Asp)
|
rs762786833
|
|
NM_000146.4(FTL):c.263A>G (p.Asp88Gly)
|
rs2122433970
|
|
NM_000146.4(FTL):c.271G>T (p.Gly91Cys)
|
|
|
NM_000146.4(FTL):c.311A>G (p.Glu104Gly)
|
rs2038454487
|
|
NM_000146.4(FTL):c.375T>C (p.His125=)
|
|
|
NM_000146.4(FTL):c.376C>G (p.Leu126Val)
|
rs775308103
|
|
NM_000146.4(FTL):c.379T>C (p.Cys127Arg)
|
rs2122435637
|
|
NM_000146.4(FTL):c.391G>A (p.Glu131Lys)
|
|
|
NM_000146.4(FTL):c.488G>A (p.Gly163Asp)
|
|
|
NM_000146.4(FTL):c.502G>T (p.Glu168Ter)
|
rs768204975
|
|
NM_000146.4(FTL):c.515_516del (p.Leu172fs)
|
|
|
NM_000146.4(FTL):c.523G>T (p.Asp175Tyr)
|
rs1422409524
|
|
NM_000146.4(FTL):c.71A>T (p.Tyr24Phe)
|
|
|
NM_001386393.1(PANK2):c.-11G>A
|
|
|
NM_001386393.1(PANK2):c.-22G>C
|
|
|
NM_001386393.1(PANK2):c.-29C>G
|
|
|
NM_001386393.1(PANK2):c.-3A>C
|
|
|
NM_001386393.1(PANK2):c.-5C>T
|
rs746763863
|
|
NM_001386393.1(PANK2):c.100G>T (p.Val34Phe)
|
rs547164263
|
|
NM_001386393.1(PANK2):c.1010A>G (p.Asp337Gly)
|
rs1568575238
|
|
NM_001386393.1(PANK2):c.1097T>A (p.Met366Lys)
|
|
|
NM_001386393.1(PANK2):c.1100G>A (p.Ser367Asn)
|
|
|
NM_001386393.1(PANK2):c.1111C>G (p.Arg371Gly)
|
|
|
NM_001386393.1(PANK2):c.1143A>C (p.Arg381Ser)
|
|
|
NM_001386393.1(PANK2):c.1152G>C (p.Leu384Phe)
|
|
|
NM_001386393.1(PANK2):c.1160T>C (p.Ile387Thr)
|
rs2090571848
|
|
NM_001386393.1(PANK2):c.116A>G (p.Glu39Gly)
|
|
|
NM_001386393.1(PANK2):c.1195G>A (p.Ala399Thr)
|
|
|
NM_001386393.1(PANK2):c.119A>G (p.Gln40Arg)
|
|
|
NM_001386393.1(PANK2):c.1201A>G (p.Asn401Asp)
|
|
|
NM_001386393.1(PANK2):c.1216C>G (p.Gln406Glu)
|
rs1183095944
|
|
NM_001386393.1(PANK2):c.1285G>T (p.Asp429Tyr)
|
|
|
NM_001386393.1(PANK2):c.1318T>C (p.Phe440Leu)
|
rs138402319
|
|
NM_001386393.1(PANK2):c.1333-29_1333-8del
|
|
|
NM_001386393.1(PANK2):c.1354G>A (p.Ala452Thr)
|
rs886056652
|
|
NM_001386393.1(PANK2):c.1370T>A (p.Leu457Ter)
|
|
|
NM_001386393.1(PANK2):c.141_155dup (p.Pro52_Leu53insArgArgGlnGluPro)
|
|
|
NM_001386393.1(PANK2):c.142C>G (p.Arg48Gly)
|
rs1416234460
|
|
NM_001386393.1(PANK2):c.176_177delinsCT (p.Ser59Thr)
|
rs1568550594
|
|
NM_001386393.1(PANK2):c.17G>C (p.Gly6Ala)
|
rs767712182
|
|
NM_001386393.1(PANK2):c.215C>A (p.Thr72Lys)
|
rs755932521
|
|
NM_001386393.1(PANK2):c.21_22delinsTT (p.Gln8Ter)
|
rs2146804492
|
|
NM_001386393.1(PANK2):c.233G>C (p.Gly78Ala)
|
rs1380924374
|
|
NM_001386393.1(PANK2):c.233G>T (p.Gly78Val)
|
rs1380924374
|
|
NM_001386393.1(PANK2):c.236C>T (p.Ser79Phe)
|
|
|
NM_001386393.1(PANK2):c.25C>G (p.Arg9Gly)
|
rs944348405
|
|
NM_001386393.1(PANK2):c.298+3_298+6del
|
|
|
NM_001386393.1(PANK2):c.314G>A (p.Gly105Glu)
|
rs762879569
|
|
NM_001386393.1(PANK2):c.317T>A (p.Leu106Gln)
|
|
|
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.383A>G (p.Glu128Gly)
|
rs2090413830
|
|
NM_001386393.1(PANK2):c.393A>C (p.Glu131Asp)
|
|
|
NM_001386393.1(PANK2):c.394G>C (p.Val132Leu)
|
|
|
NM_001386393.1(PANK2):c.40A>G (p.Met14Val)
|
rs1368727421
|
|
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.451A>G (p.Thr151Ala)
|
|
|
NM_001386393.1(PANK2):c.475G>A (p.Glu159Lys)
|
rs778263915
|
|
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.526C>G (p.Arg176Gly)
|
|
|
NM_001386393.1(PANK2):c.55C>G (p.Leu19Val)
|
rs772205776
|
|
NM_001386393.1(PANK2):c.566G>A (p.Gly189Asp)
|
rs975841680
|
|
NM_001386393.1(PANK2):c.651+3A>C
|
rs1131691472
|
|
NM_001386393.1(PANK2):c.651+3A>G
|
rs1131691472
|
|
NM_001386393.1(PANK2):c.652A>G (p.Ile218Val)
|
|
|
NM_001386393.1(PANK2):c.655G>T (p.Gly219Cys)
|
rs2146866714
|
|
NM_001386393.1(PANK2):c.67A>C (p.Met23Leu)
|
rs2146804825
|
|
NM_001386393.1(PANK2):c.695T>C (p.Leu232Ser)
|
|
|
NM_001386393.1(PANK2):c.706A>G (p.Ile236Val)
|
rs2090454168
|
|
NM_001386393.1(PANK2):c.710T>C (p.Leu237Ser)
|
|
|
NM_001386393.1(PANK2):c.728G>A (p.Gly243Glu)
|
rs2146866985
|
|
NM_001386393.1(PANK2):c.731T>G (p.Phe244Cys)
|
|
|
NM_001386393.1(PANK2):c.73C>T (p.Arg25Cys)
|
|
|
NM_001386393.1(PANK2):c.752A>G (p.Tyr251Cys)
|
rs1568572918
|
|
NM_001386393.1(PANK2):c.766C>G (p.Pro256Ala)
|
rs777624606
|
|
NM_001386393.1(PANK2):c.769G>T (p.Ala257Ser)
|
rs1568572979
|
|
NM_001386393.1(PANK2):c.776C>G (p.Ser259Cys)
|
|
|
NM_001386393.1(PANK2):c.785G>A (p.Cys262Tyr)
|
rs149907912
|
|
NM_001386393.1(PANK2):c.78C>A (p.His26Gln)
|
rs2090076533
|
|
NM_001386393.1(PANK2):c.802G>T (p.Asp268Tyr)
|
|
|
NM_001386393.1(PANK2):c.817T>C (p.Tyr273His)
|
|
|
NM_001386393.1(PANK2):c.838A>G (p.Ile280Val)
|
|
|
NM_001386393.1(PANK2):c.845C>T (p.Ser282Leu)
|
rs2090457090
|
|
NM_001386393.1(PANK2):c.854G>A (p.Ser285Asn)
|
rs2146867465
|
|
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.882T>G (p.Asn294Lys)
|
rs758080048
|
|
NM_001386393.1(PANK2):c.883T>G (p.Tyr295Asp)
|
rs1288629241
|
|
NM_001386393.1(PANK2):c.8G>T (p.Gly3Val)
|
rs1268207892
|
|
NM_001386393.1(PANK2):c.923T>G (p.Phe308Cys)
|
rs2146872412
|
|
NM_001386393.1(PANK2):c.932T>G (p.Leu311Arg)
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rs2146872437
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NM_001386393.1(PANK2):c.946A>G (p.Thr316Ala)
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NM_001386393.1(PANK2):c.971C>A (p.Ala324Asp)
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rs1031848408
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NM_001386393.1(PANK2):c.989G>A (p.Arg330His)
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NM_153638.4(PANK2):c.113C>A (p.Thr38Asn)
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rs1426406978
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NM_153638.4(PANK2):c.118C>T (p.Leu40Phe)
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NM_153638.4(PANK2):c.126del (p.Arg44fs)
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rs1600474748
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NM_153638.4(PANK2):c.14G>A (p.Gly5Glu)
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NM_153638.4(PANK2):c.160A>G (p.Thr54Ala)
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rs2146803538
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NM_153638.4(PANK2):c.172C>T (p.Pro58Ser)
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NM_153638.4(PANK2):c.200A>C (p.Glu67Ala)
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rs2146803693
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NM_153638.4(PANK2):c.209G>C (p.Gly70Ala)
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NM_153638.4(PANK2):c.272C>T (p.Pro91Leu)
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rs757651957
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NM_153638.4(PANK2):c.280C>A (p.Arg94Ser)
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NM_153638.4(PANK2):c.283C>T (p.Leu95Phe)
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rs558404718
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NM_153638.4(PANK2):c.31G>A (p.Val11Ile)
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rs886044063
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NM_153638.4(PANK2):c.38G>A (p.Trp13Ter)
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NM_153638.4(PANK2):c.42_67del (p.Ala15fs)
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rs760822872
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NM_153638.4(PANK2):c.55C>T (p.Leu19Phe)
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rs1568549056
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NM_153638.4(PANK2):c.58T>C (p.Ser20Pro)
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NM_153638.4(PANK2):c.9G>T (p.Arg3Ser)
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rs1211425299
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