NM_015488.5(PNKD):c.*155C>T
|
rs753020574
|
0.00054
|
NM_015488.5(PNKD):c.*1490G>A
|
rs971155594
|
0.00041
|
NM_015488.5(PNKD):c.281G>A (p.Arg94Gln)
|
rs140941237
|
0.00016
|
NM_015488.5(PNKD):c.1102C>G (p.Arg368Gly)
|
rs185906233
|
0.00014
|
NM_015488.5(PNKD):c.964C>T (p.Arg322Trp)
|
rs751050132
|
0.00013
|
NM_015488.5(PNKD):c.*1118T>A
|
rs762512024
|
0.00012
|
NM_015488.5(PNKD):c.*868T>C
|
rs998136972
|
0.00011
|
NM_015488.5(PNKD):c.*826G>T
|
rs772338538
|
0.00010
|
NM_015488.5(PNKD):c.839G>T (p.Gly280Val)
|
rs766132328
|
0.00009
|
NM_015488.5(PNKD):c.665G>A (p.Arg222Gln)
|
rs777574834
|
0.00008
|
NM_015488.5(PNKD):c.1120G>A (p.Glu374Lys)
|
rs936912635
|
0.00007
|
NM_015488.5(PNKD):c.664C>T (p.Arg222Trp)
|
rs758297049
|
0.00007
|
NM_015488.5(PNKD):c.984+1G>A
|
rs577027430
|
0.00007
|
NM_015488.5(PNKD):c.331A>G (p.Thr111Ala)
|
rs202190131
|
0.00006
|
NM_015488.5(PNKD):c.384G>A (p.Ser128=)
|
rs544137720
|
0.00006
|
NM_015488.5(PNKD):c.785G>A (p.Arg262Gln)
|
rs759669801
|
0.00006
|
NM_015488.5(PNKD):c.833T>G (p.Val278Gly)
|
rs1220987446
|
0.00006
|
NM_015488.5(PNKD):c.973C>T (p.Arg325Cys)
|
rs149750691
|
0.00006
|
NM_015488.5(PNKD):c.984G>A (p.Thr328=)
|
rs371356115
|
0.00006
|
NM_015488.5(PNKD):c.559C>T (p.Arg187Trp)
|
rs375550686
|
0.00005
|
NM_015488.5(PNKD):c.983C>T (p.Thr328Met)
|
rs780464180
|
0.00005
|
NM_015488.5(PNKD):c.1010G>A (p.Arg337His)
|
rs374137801
|
0.00004
|
NM_015488.5(PNKD):c.1094A>T (p.Asp365Val)
|
rs754318977
|
0.00004
|
NM_015488.5(PNKD):c.1103G>A (p.Arg368Gln)
|
rs372191275
|
0.00004
|
NM_015488.5(PNKD):c.301C>T (p.Arg101Trp)
|
rs533033409
|
0.00004
|
NM_015488.5(PNKD):c.869-5G>A
|
rs375416202
|
0.00004
|
NM_015488.5(PNKD):c.*206C>T
|
rs886055622
|
0.00003
|
NM_015488.5(PNKD):c.1090G>A (p.Asp364Asn)
|
rs766821861
|
0.00003
|
NM_015488.5(PNKD):c.1126C>T (p.Arg376Cys)
|
rs200042352
|
0.00003
|
NM_015488.5(PNKD):c.299C>T (p.Ala100Val)
|
rs374645683
|
0.00003
|
NM_015488.5(PNKD):c.302G>A (p.Arg101Gln)
|
rs368934552
|
0.00003
|
NM_015488.5(PNKD):c.877T>C (p.Tyr293His)
|
rs368638126
|
0.00003
|
NM_015488.5(PNKD):c.932G>A (p.Arg311Gln)
|
rs61745358
|
0.00003
|
NM_015488.5(PNKD):c.*1216G>A
|
rs999439159
|
0.00002
|
NM_015488.5(PNKD):c.*253C>T
|
rs1456301565
|
0.00002
|
NM_015488.5(PNKD):c.1129C>T (p.Arg377Trp)
|
rs377569724
|
0.00002
|
NM_015488.5(PNKD):c.1130G>A (p.Arg377Gln)
|
rs148141539
|
0.00002
|
NM_015488.5(PNKD):c.341G>A (p.Arg114His)
|
rs781140528
|
0.00002
|
NM_015488.5(PNKD):c.409G>A (p.Asp137Asn)
|
rs139792709
|
0.00002
|
NM_015488.5(PNKD):c.454C>T (p.Arg152Trp)
|
rs756863425
|
0.00002
|
NM_015488.5(PNKD):c.557G>A (p.Arg186Gln)
|
rs143162613
|
0.00002
|
NM_015488.5(PNKD):c.597C>T (p.Asp199=)
|
rs139122042
|
0.00002
|
NM_015488.5(PNKD):c.673G>A (p.Ala225Thr)
|
rs1459728761
|
0.00002
|
NM_015488.5(PNKD):c.698A>G (p.His233Arg)
|
rs994484237
|
0.00002
|
NM_015488.5(PNKD):c.970G>T (p.Glu324Ter)
|
rs781505065
|
0.00002
|
NM_015488.5(PNKD):c.*1476A>G
|
rs886055623
|
0.00001
|
NM_015488.5(PNKD):c.*1569C>T
|
rs1694830978
|
0.00001
|
NM_015488.5(PNKD):c.*838C>T
|
rs560187472
|
0.00001
|
NM_015488.5(PNKD):c.1006G>T (p.Glu336Ter)
|
rs754136722
|
0.00001
|
NM_015488.5(PNKD):c.1067C>T (p.Pro356Leu)
|
rs1553516179
|
0.00001
|
NM_015488.5(PNKD):c.1073C>T (p.Pro358Leu)
|
rs1161443837
|
0.00001
|
NM_015488.5(PNKD):c.1105G>T (p.Ala369Ser)
|
rs1233192096
|
0.00001
|
NM_015488.5(PNKD):c.1112T>C (p.Leu371Pro)
|
rs777859269
|
0.00001
|
NM_015488.5(PNKD):c.1127G>A (p.Arg376His)
|
rs781473009
|
0.00001
|
NM_015488.5(PNKD):c.1146C>G (p.His382Gln)
|
rs1157053840
|
0.00001
|
NM_015488.5(PNKD):c.1153A>G (p.Lys385Glu)
|
rs1299480252
|
0.00001
|
NM_015488.5(PNKD):c.253C>T (p.Arg85Cys)
|
rs769375770
|
0.00001
|
NM_015488.5(PNKD):c.280C>T (p.Arg94Ter)
|
rs754138242
|
0.00001
|
NM_015488.5(PNKD):c.307C>T (p.Arg103Cys)
|
rs1157911601
|
0.00001
|
NM_015488.5(PNKD):c.308G>A (p.Arg103His)
|
rs768336954
|
0.00001
|
NM_015488.5(PNKD):c.326C>T (p.Ser109Leu)
|
rs985467569
|
0.00001
|
NM_015488.5(PNKD):c.370A>G (p.Ile124Val)
|
rs909331529
|
0.00001
|
NM_015488.5(PNKD):c.383C>T (p.Ser128Leu)
|
rs200782799
|
0.00001
|
NM_015488.5(PNKD):c.391T>C (p.Tyr131His)
|
rs1353463061
|
0.00001
|
NM_015488.5(PNKD):c.404T>C (p.Ile135Thr)
|
rs1292612483
|
0.00001
|
NM_015488.5(PNKD):c.419C>T (p.Ala140Val)
|
rs766237012
|
0.00001
|
NM_015488.5(PNKD):c.431T>G (p.Val144Gly)
|
rs533028105
|
0.00001
|
NM_015488.5(PNKD):c.476A>T (p.Glu159Val)
|
rs758928375
|
0.00001
|
NM_015488.5(PNKD):c.499G>A (p.Ala167Thr)
|
rs1219443955
|
0.00001
|
NM_015488.5(PNKD):c.533G>A (p.Ser178Asn)
|
rs147885219
|
0.00001
|
NM_015488.5(PNKD):c.544C>T (p.Arg182Cys)
|
rs1401462536
|
0.00001
|
NM_015488.5(PNKD):c.551T>C (p.Leu184Pro)
|
rs1243303171
|
0.00001
|
NM_015488.5(PNKD):c.574C>T (p.Arg192Trp)
|
rs758791360
|
0.00001
|
NM_015488.5(PNKD):c.583G>A (p.Gly195Arg)
|
rs554148467
|
0.00001
|
NM_015488.5(PNKD):c.618T>A (p.His206Gln)
|
rs776176020
|
0.00001
|
NM_015488.5(PNKD):c.646G>A (p.Val216Met)
|
rs771841680
|
0.00001
|
NM_015488.5(PNKD):c.679C>G (p.Pro227Ala)
|
rs1360064508
|
0.00001
|
NM_015488.5(PNKD):c.691C>A (p.Gln231Lys)
|
rs781010423
|
0.00001
|
NM_015488.5(PNKD):c.708C>A (p.Tyr236Ter)
|
rs1025922436
|
0.00001
|
NM_015488.5(PNKD):c.754G>T (p.Gly252Trp)
|
rs1166017790
|
0.00001
|
NM_015488.5(PNKD):c.781+5G>C
|
rs757255934
|
0.00001
|
NM_015488.5(PNKD):c.782-7C>G
|
rs773884627
|
0.00001
|
NM_015488.5(PNKD):c.784C>T (p.Arg262Trp)
|
rs777091882
|
0.00001
|
NM_015488.5(PNKD):c.854C>A (p.Thr285Asn)
|
rs754573542
|
0.00001
|
NM_015488.5(PNKD):c.915G>C (p.Glu305Asp)
|
rs201068431
|
0.00001
|
NM_015488.5(PNKD):c.931C>T (p.Arg311Trp)
|
rs761896240
|
0.00001
|
NM_015488.5(PNKD):c.955C>T (p.Gln319Ter)
|
rs765048900
|
0.00001
|
NM_015488.5(PNKD):c.958C>T (p.Arg320Trp)
|
rs1009710207
|
0.00001
|
NM_015488.5(PNKD):c.965G>A (p.Arg322Gln)
|
rs756826546
|
0.00001
|
NM_015488.5(PNKD):c.974G>A (p.Arg325His)
|
rs756621298
|
0.00001
|
NM_015488.5(PNKD):c.998T>G (p.Leu333Arg)
|
rs1005386085
|
0.00001
|
NM_015488.5(PNKD):c.*1305A>G
|
rs1694825559
|
|
NM_015488.5(PNKD):c.*212G>A
|
rs989494170
|
|
NM_015488.5(PNKD):c.*679C>T
|
rs1694809581
|
|
NM_015488.5(PNKD):c.1006G>A (p.Glu336Lys)
|
|
|
NM_015488.5(PNKD):c.1009C>T (p.Arg337Cys)
|
rs1694784083
|
|
NM_015488.5(PNKD):c.1012T>C (p.Ser338Pro)
|
|
|
NM_015488.5(PNKD):c.1013_1015del (p.Ser338del)
|
|
|
NM_015488.5(PNKD):c.1022dup (p.Phe342fs)
|
|
|
NM_015488.5(PNKD):c.1036C>T (p.His346Tyr)
|
|
|
NM_015488.5(PNKD):c.1040G>A (p.Cys347Tyr)
|
|
|
NM_015488.5(PNKD):c.1046C>T (p.Ala349Val)
|
|
|
NM_015488.5(PNKD):c.1052A>G (p.Gln351Arg)
|
|
|
NM_015488.5(PNKD):c.1057G>T (p.Ala353Ser)
|
|
|
NM_015488.5(PNKD):c.1072C>T (p.Pro358Ser)
|
|
|
NM_015488.5(PNKD):c.1073del (p.Pro358fs)
|
|
|
NM_015488.5(PNKD):c.1078C>T (p.Pro360Ser)
|
|
|
NM_015488.5(PNKD):c.1079C>T (p.Pro360Leu)
|
|
|
NM_015488.5(PNKD):c.1081A>G (p.Thr361Ala)
|
|
|
NM_015488.5(PNKD):c.1091A>G (p.Asp364Gly)
|
|
|
NM_015488.5(PNKD):c.1102C>T (p.Arg368Trp)
|
rs185906233
|
|
NM_015488.5(PNKD):c.1108C>T (p.Gln370Ter)
|
|
|
NM_015488.5(PNKD):c.1115T>C (p.Leu372Pro)
|
rs1694789383
|
|
NM_015488.5(PNKD):c.1115T>G (p.Leu372Arg)
|
|
|
NM_015488.5(PNKD):c.1117G>A (p.Glu373Lys)
|
|
|
NM_015488.5(PNKD):c.1135A>T (p.Lys379Ter)
|
rs1694790443
|
|
NM_015488.5(PNKD):c.1148del (p.Lys383fs)
|
rs1574724140
|
|
NM_015488.5(PNKD):c.1150A>T (p.Ser384Cys)
|
rs765841531
|
|
NM_015488.5(PNKD):c.1152C>T (p.Ser384=)
|
|
|
NM_015488.5(PNKD):c.237-10C>A
|
|
|
NM_015488.5(PNKD):c.243C>G (p.Ser81Arg)
|
rs540125259
|
|
NM_015488.5(PNKD):c.251C>T (p.Thr84Ile)
|
|
|
NM_015488.5(PNKD):c.257C>T (p.Thr86Ile)
|
|
|
NM_015488.5(PNKD):c.266G>C (p.Gly89Ala)
|
|
|
NM_015488.5(PNKD):c.268dup (p.Tyr90fs)
|
rs2106292758
|
|
NM_015488.5(PNKD):c.292C>A (p.Arg98Ser)
|
|
|
NM_015488.5(PNKD):c.293G>A (p.Arg98His)
|
rs201495280
|
|
NM_015488.5(PNKD):c.293G>T (p.Arg98Leu)
|
rs201495280
|
|
NM_015488.5(PNKD):c.302G>C (p.Arg101Pro)
|
rs368934552
|
|
NM_015488.5(PNKD):c.311A>T (p.Tyr104Phe)
|
|
|
NM_015488.5(PNKD):c.312C>A (p.Tyr104Ter)
|
|
|
NM_015488.5(PNKD):c.312_316del (p.Tyr104_Lys106delinsTer)
|
|
|
NM_015488.5(PNKD):c.314C>T (p.Pro105Leu)
|
|
|
NM_015488.5(PNKD):c.318A>T (p.Lys106Asn)
|
rs1421249273
|
|
NM_015488.5(PNKD):c.320G>C (p.Gly107Ala)
|
rs2106292830
|
|
NM_015488.5(PNKD):c.320G>T (p.Gly107Val)
|
rs2106292830
|
|
NM_015488.5(PNKD):c.322C>A (p.His108Asn)
|
rs1694617621
|
|
NM_015488.5(PNKD):c.348C>G (p.Phe116Leu)
|
rs1437287362
|
|
NM_015488.5(PNKD):c.353-2A>G
|
|
|
NM_015488.5(PNKD):c.353-9T>G
|
rs2106293111
|
|
NM_015488.5(PNKD):c.356T>C (p.Val119Ala)
|
|
|
NM_015488.5(PNKD):c.359A>G (p.Lys120Arg)
|
|
|
NM_015488.5(PNKD):c.368C>T (p.Pro123Leu)
|
rs1694626257
|
|
NM_015488.5(PNKD):c.369del (p.Ile124fs)
|
|
|
NM_015488.5(PNKD):c.369dup (p.Ile124fs)
|
|
|
NM_015488.5(PNKD):c.371T>A (p.Ile124Asn)
|
rs762861678
|
|
NM_015488.5(PNKD):c.371T>C (p.Ile124Thr)
|
rs762861678
|
|
NM_015488.5(PNKD):c.382T>C (p.Ser128Pro)
|
|
|
NM_015488.5(PNKD):c.392A>G (p.Tyr131Cys)
|
|
|
NM_015488.5(PNKD):c.408C>G (p.Ile136Met)
|
rs763052723
|
|
NM_015488.5(PNKD):c.415C>G (p.Gln139Glu)
|
|
|
NM_015488.5(PNKD):c.415C>T (p.Gln139Ter)
|
rs372675235
|
|
NM_015488.5(PNKD):c.427G>A (p.Ala143Thr)
|
rs754958157
|
|
NM_015488.5(PNKD):c.427G>C (p.Ala143Pro)
|
|
|
NM_015488.5(PNKD):c.427G>T (p.Ala143Ser)
|
|
|
NM_015488.5(PNKD):c.428C>G (p.Ala143Gly)
|
|
|
NM_015488.5(PNKD):c.436G>A (p.Val146Met)
|
|
|
NM_015488.5(PNKD):c.441C>G (p.Asp147Glu)
|
|
|
NM_015488.5(PNKD):c.442C>G (p.Pro148Ala)
|
rs545078283
|
|
NM_015488.5(PNKD):c.448G>T (p.Asp150Tyr)
|
|
|
NM_015488.5(PNKD):c.465+2T>G
|
rs1230004320
|
|
NM_015488.5(PNKD):c.465+3G>A
|
rs1313298373
|
|
NM_015488.5(PNKD):c.465G>C (p.Gln155His)
|
|
|
NM_015488.5(PNKD):c.466-5C>G
|
rs745435962
|
|
NM_015488.5(PNKD):c.466-9C>G
|
|
|
NM_015488.5(PNKD):c.479A>G (p.Lys160Arg)
|
rs1694648277
|
|
NM_015488.5(PNKD):c.481G>A (p.Glu161Lys)
|
|
|
NM_015488.5(PNKD):c.490A>G (p.Thr164Ala)
|
rs2106294008
|
|
NM_015488.5(PNKD):c.500C>T (p.Ala167Val)
|
rs2106294018
|
|
NM_015488.5(PNKD):c.505C>A (p.Leu169Met)
|
rs2106294020
|
|
NM_015488.5(PNKD):c.526G>A (p.Asp176Asn)
|
rs1553674143
|
|
NM_015488.5(PNKD):c.528C>A (p.Asp176Glu)
|
|
|
NM_015488.5(PNKD):c.532A>C (p.Ser178Arg)
|
|
|
NM_015488.5(PNKD):c.533G>C (p.Ser178Thr)
|
|
|
NM_015488.5(PNKD):c.536G>T (p.Gly179Val)
|
rs1694676356
|
|
NM_015488.5(PNKD):c.538G>A (p.Gly180Arg)
|
rs1694676419
|
|
NM_015488.5(PNKD):c.545G>A (p.Arg182His)
|
|
|
NM_015488.5(PNKD):c.554G>C (p.Ser185Thr)
|
|
|
NM_015488.5(PNKD):c.556C>T (p.Arg186Trp)
|
|
|
NM_015488.5(PNKD):c.566G>T (p.Arg189Leu)
|
rs199987826
|
|
NM_015488.5(PNKD):c.568G>A (p.Asp190Asn)
|
rs1256960832
|
|
NM_015488.5(PNKD):c.568G>T (p.Asp190Tyr)
|
|
|
NM_015488.5(PNKD):c.575G>A (p.Arg192Gln)
|
|
|
NM_015488.5(PNKD):c.585del (p.Ser196fs)
|
rs761519363
|
|
NM_015488.5(PNKD):c.587G>C (p.Ser196Thr)
|
rs1341663022
|
|
NM_015488.5(PNKD):c.595G>A (p.Asp199Asn)
|
rs1694679310
|
|
NM_015488.5(PNKD):c.599G>C (p.Gly200Ala)
|
|
|
NM_015488.5(PNKD):c.610C>G (p.Leu204Val)
|
|
|
NM_015488.5(PNKD):c.614C>A (p.Thr205Asn)
|
|
|
NM_015488.5(PNKD):c.617+5G>C
|
rs1553674205
|
|
NM_015488.5(PNKD):c.628C>A (p.His210Asn)
|
rs886055620
|
|
NM_015488.5(PNKD):c.630T>G (p.His210Gln)
|
rs1694691035
|
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NM_015488.5(PNKD):c.637G>A (p.Val213Met)
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NM_015488.5(PNKD):c.641_649del (p.Val214_Val216del)
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rs1694691273
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NM_015488.5(PNKD):c.652C>T (p.Arg218Trp)
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rs34745867
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NM_015488.5(PNKD):c.658C>G (p.Gln220Glu)
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NM_015488.5(PNKD):c.667G>A (p.Ala223Thr)
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NM_015488.5(PNKD):c.692A>C (p.Gln231Pro)
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rs1694693946
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NM_015488.5(PNKD):c.693del (p.Gly232fs)
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rs773192502
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NM_015488.5(PNKD):c.716A>T (p.Asp239Val)
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rs1553674341
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NM_015488.5(PNKD):c.718G>A (p.Gly240Arg)
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NM_015488.5(PNKD):c.724C>T (p.Pro242Ser)
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rs1694695921
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NM_015488.5(PNKD):c.733G>T (p.Gly245Cys)
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rs769143232
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NM_015488.5(PNKD):c.745C>T (p.Leu249Phe)
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rs1199556893
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NM_015488.5(PNKD):c.758A>T (p.Asp253Val)
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NM_015488.5(PNKD):c.768C>A (p.Phe256Leu)
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NM_015488.5(PNKD):c.770T>C (p.Leu257Pro)
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NM_015488.5(PNKD):c.773C>T (p.Ser258Phe)
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rs777714592
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NM_015488.5(PNKD):c.793G>A (p.Glu265Lys)
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NM_015488.5(PNKD):c.795G>T (p.Glu265Asp)
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NM_015488.5(PNKD):c.801T>G (p.Asn267Lys)
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NM_015488.5(PNKD):c.827A>C (p.Asp276Ala)
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NM_015488.5(PNKD):c.833_834del (p.Val278fs)
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NM_015488.5(PNKD):c.839G>A (p.Gly280Glu)
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rs766132328
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NM_015488.5(PNKD):c.841C>A (p.Leu281Ile)
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NM_015488.5(PNKD):c.857T>C (p.Leu286Pro)
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NM_015488.5(PNKD):c.864G>A (p.Trp288Ter)
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NM_015488.5(PNKD):c.872A>C (p.His291Pro)
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NM_015488.5(PNKD):c.876G>C (p.Glu292Asp)
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NM_015488.5(PNKD):c.876G>T (p.Glu292Asp)
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NM_015488.5(PNKD):c.878A>G (p.Tyr293Cys)
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rs1694770280
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NM_015488.5(PNKD):c.902C>T (p.Ala301Val)
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rs2106298348
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NM_015488.5(PNKD):c.905G>A (p.Gly302Asp)
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NM_015488.5(PNKD):c.910G>A (p.Val304Met)
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NM_015488.5(PNKD):c.916C>T (p.Pro306Ser)
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rs1247054660
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NM_015488.5(PNKD):c.926T>C (p.Leu309Pro)
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NM_015488.5(PNKD):c.931C>G (p.Arg311Gly)
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NM_015488.5(PNKD):c.937A>T (p.Arg313Trp)
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rs2106298400
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NM_015488.5(PNKD):c.949T>C (p.Trp317Arg)
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NM_015488.5(PNKD):c.953T>G (p.Val318Gly)
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NM_015488.5(PNKD):c.958C>G (p.Arg320Gly)
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NM_015488.5(PNKD):c.962A>G (p.Gln321Arg)
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NM_015488.5(PNKD):c.978G>A (p.Lys326=)
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NM_015488.5(PNKD):c.982A>T (p.Thr328Ser)
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rs1225358282
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NM_015488.5(PNKD):c.984+2T>G
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NM_015488.5(PNKD):c.985-1G>C
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rs1694783221
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NM_015488.5(PNKD):c.989C>T (p.Pro330Leu)
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NM_015488.5(PNKD):c.994A>G (p.Thr332Ala)
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NM_015488.5(PNKD):c.999G>A (p.Leu333=)
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