NM_015488.5(PNKD):c.237-8707G>A
|
rs10932775
|
0.45181
|
NM_015488.5(PNKD):c.486G>A (p.Gly162=)
|
rs34014804
|
0.06442
|
NM_015488.5(PNKD):c.652C>A (p.Arg218=)
|
rs34745867
|
0.02221
|
NM_015488.5(PNKD):c.455G>A (p.Arg152Gln)
|
rs73990423
|
0.01825
|
NM_015488.5(PNKD):c.939G>A (p.Arg313=)
|
rs116144189
|
0.01354
|
NM_015488.5(PNKD):c.254G>A (p.Arg85His)
|
rs150402000
|
0.00140
|
NM_015488.5(PNKD):c.265G>A (p.Gly89Arg)
|
rs147259983
|
0.00139
|
NM_015488.5(PNKD):c.835C>T (p.Leu279=)
|
rs149643391
|
0.00082
|
NM_015488.5(PNKD):c.524+13C>T
|
rs150529046
|
0.00078
|
NM_015488.5(PNKD):c.466-11C>T
|
rs142473649
|
0.00070
|
NM_015488.5(PNKD):c.352+12C>T
|
rs201092853
|
0.00064
|
NM_015488.5(PNKD):c.321C>T (p.Gly107=)
|
rs144856848
|
0.00053
|
NM_015488.5(PNKD):c.919G>A (p.Glu307Lys)
|
rs139825405
|
0.00053
|
NM_015488.5(PNKD):c.237-9G>A
|
rs371173395
|
0.00044
|
NM_015488.5(PNKD):c.781+12C>T
|
rs370963150
|
0.00035
|
NM_015488.5(PNKD):c.323A>G (p.His108Arg)
|
rs142536637
|
0.00017
|
NM_015488.5(PNKD):c.281G>A (p.Arg94Gln)
|
rs140941237
|
0.00016
|
NM_015488.5(PNKD):c.352+19G>A
|
rs768284028
|
0.00015
|
NM_015488.5(PNKD):c.1102C>G (p.Arg368Gly)
|
rs185906233
|
0.00014
|
NM_015488.5(PNKD):c.350A>G (p.Asn117Ser)
|
rs199572198
|
0.00014
|
NM_015488.5(PNKD):c.781+13G>A
|
rs201802667
|
0.00014
|
NM_015488.5(PNKD):c.964C>T (p.Arg322Trp)
|
rs751050132
|
0.00013
|
NM_015488.5(PNKD):c.959G>A (p.Arg320Gln)
|
rs200815994
|
0.00012
|
NM_015488.5(PNKD):c.1068G>A (p.Pro356=)
|
rs139193832
|
0.00011
|
NM_015488.5(PNKD):c.466-3C>A
|
rs370929830
|
0.00011
|
NM_015488.5(PNKD):c.524+14G>A
|
rs373580030
|
0.00011
|
NM_015488.5(PNKD):c.839G>T (p.Gly280Val)
|
rs766132328
|
0.00009
|
NM_015488.5(PNKD):c.498C>T (p.Val166=)
|
rs376951824
|
0.00008
|
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.340C>T (p.Arg114Cys)
|
rs374529489
|
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.430G>T (p.Val144Leu)
|
rs764910957
|
0.00006
|
NM_015488.5(PNKD):c.645C>T (p.Ser215=)
|
rs373992679
|
0.00006
|
NM_015488.5(PNKD):c.653G>A (p.Arg218Gln)
|
rs746884706
|
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.264C>T (p.Leu88=)
|
rs138241166
|
0.00004
|
NM_015488.5(PNKD):c.301C>T (p.Arg101Trp)
|
rs533033409
|
0.00004
|
NM_015488.5(PNKD):c.492C>T (p.Thr164=)
|
rs775533328
|
0.00004
|
NM_015488.5(PNKD):c.869-5G>A
|
rs375416202
|
0.00004
|
NM_015488.5(PNKD):c.984+11C>T
|
rs779135692
|
0.00004
|
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.540G>A (p.Gly180=)
|
rs748991526
|
0.00003
|
NM_015488.5(PNKD):c.648G>A (p.Val216=)
|
rs767740808
|
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.1047G>A (p.Ala349=)
|
rs575546377
|
0.00002
|
NM_015488.5(PNKD):c.1116G>A (p.Leu372=)
|
rs1237935847
|
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.237-10C>T
|
rs201618527
|
0.00002
|
NM_015488.5(PNKD):c.246G>A (p.Leu82=)
|
rs145583175
|
0.00002
|
NM_015488.5(PNKD):c.341G>A (p.Arg114His)
|
rs781140528
|
0.00002
|
NM_015488.5(PNKD):c.357G>A (p.Val119=)
|
rs1303377436
|
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.566G>A (p.Arg189Gln)
|
rs199987826
|
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.868+17C>A
|
rs373858533
|
0.00002
|
NM_015488.5(PNKD):c.887A>G (p.Glu296Gly)
|
rs202211738
|
0.00002
|
NM_015488.5(PNKD):c.970G>T (p.Glu324Ter)
|
rs781505065
|
0.00002
|
NM_015488.5(PNKD):c.984+12G>A
|
rs546037398
|
0.00002
|
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.1074G>A (p.Pro358=)
|
rs148953301
|
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.1149G>T (p.Lys383Asn)
|
rs760423147
|
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.466-4G>A
|
rs1383461623
|
0.00001
|
NM_015488.5(PNKD):c.466-9C>T
|
rs765454285
|
0.00001
|
NM_015488.5(PNKD):c.499G>A (p.Ala167Thr)
|
rs1219443955
|
0.00001
|
NM_015488.5(PNKD):c.524+18T>C
|
rs747704832
|
0.00001
|
NM_015488.5(PNKD):c.525-10T>C
|
rs1339930032
|
0.00001
|
NM_015488.5(PNKD):c.533G>A (p.Ser178Asn)
|
rs147885219
|
0.00001
|
NM_015488.5(PNKD):c.543C>T (p.Asn181=)
|
rs761712009
|
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.579G>T (p.Val193=)
|
rs1378240041
|
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.639G>T (p.Val213=)
|
rs764570137
|
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.782-19C>T
|
rs779635681
|
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.873T>C (p.His291=)
|
rs1383953923
|
0.00001
|
NM_015488.5(PNKD):c.915G>C (p.Glu305Asp)
|
rs201068431
|
0.00001
|
NM_015488.5(PNKD):c.918C>T (p.Pro306=)
|
rs780334841
|
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.985-9C>T
|
rs568589204
|
0.00001
|
NM_015488.5(PNKD):c.998T>G (p.Leu333Arg)
|
rs1005386085
|
0.00001
|
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.1023G>A (p.Pro341=)
|
rs368559097
|
|
NM_015488.5(PNKD):c.1023G>T (p.Pro341=)
|
|
|
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.1068G>C (p.Pro356=)
|
rs139193832
|
|
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.1095C>T (p.Asp365=)
|
|
|
NM_015488.5(PNKD):c.1102C>T (p.Arg368Trp)
|
rs185906233
|
|
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.1140_1145del (p.Met381_His382del)
|
rs576363906
|
|
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.237-11T>C
|
|
|
NM_015488.5(PNKD):c.237-14C>T
|
|
|
NM_015488.5(PNKD):c.237-4C>T
|
|
|
NM_015488.5(PNKD):c.237-8707G>T
|
|
|
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.273C>T (p.Leu91=)
|
rs550380646
|
|
NM_015488.5(PNKD):c.280C>A (p.Arg94=)
|
rs754138242
|
|
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.309C>A (p.Arg103=)
|
rs2106292815
|
|
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.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.327G>A (p.Ser109=)
|
rs766828848
|
|
NM_015488.5(PNKD):c.333C>G (p.Thr111=)
|
rs1239020217
|
|
NM_015488.5(PNKD):c.348C>G (p.Phe116Leu)
|
rs1437287362
|
|
NM_015488.5(PNKD):c.352+13_352+15del
|
|
|
NM_015488.5(PNKD):c.352+18C>T
|
|
|
NM_015488.5(PNKD):c.353-16C>A
|
rs2106293104
|
|
NM_015488.5(PNKD):c.353-2A>G
|
|
|
NM_015488.5(PNKD):c.353-6C>T
|
rs1694625432
|
|
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.375T>C (p.Pro125=)
|
rs940846331
|
|
NM_015488.5(PNKD):c.382T>C (p.Ser128Pro)
|
|
|
NM_015488.5(PNKD):c.384G>C (p.Ser128=)
|
|
|
NM_015488.5(PNKD):c.392A>G (p.Tyr131Cys)
|
|
|
NM_015488.5(PNKD):c.408C>G (p.Ile136Met)
|
rs763052723
|
|
NM_015488.5(PNKD):c.408C>T (p.Ile136=)
|
|
|
NM_015488.5(PNKD):c.414C>G (p.Thr138=)
|
rs2106293207
|
|
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.435T>C (p.Ala145=)
|
|
|
NM_015488.5(PNKD):c.436G>A (p.Val146Met)
|
|
|
NM_015488.5(PNKD):c.441C>G (p.Asp147Glu)
|
|
|
NM_015488.5(PNKD):c.442C>A (p.Pro148Thr)
|
rs545078283
|
|
NM_015488.5(PNKD):c.442C>G (p.Pro148Ala)
|
rs545078283
|
|
NM_015488.5(PNKD):c.448G>T (p.Asp150Tyr)
|
|
|
NM_015488.5(PNKD):c.453T>G (p.Pro151=)
|
|
|
NM_015488.5(PNKD):c.462G>A (p.Val154=)
|
rs2106293300
|
|
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.466-10T>C
|
rs1694647158
|
|
NM_015488.5(PNKD):c.466-15T>A
|
|
|
NM_015488.5(PNKD):c.466-5C>G
|
rs745435962
|
|
NM_015488.5(PNKD):c.466-7C>T
|
rs780814768
|
|
NM_015488.5(PNKD):c.466-9C>G
|
|
|
NM_015488.5(PNKD):c.471C>T (p.Ser157=)
|
|
|
NM_015488.5(PNKD):c.479A>G (p.Lys160Arg)
|
rs1694648277
|
|
NM_015488.5(PNKD):c.481G>A (p.Glu161Lys)
|
|
|
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.524+11C>T
|
|
|
NM_015488.5(PNKD):c.524+17T>C
|
|
|
NM_015488.5(PNKD):c.524+8G>T
|
rs1464064363
|
|
NM_015488.5(PNKD):c.525-11C>A
|
|
|
NM_015488.5(PNKD):c.525-18G>A
|
rs956409257
|
|
NM_015488.5(PNKD):c.526G>A (p.Asp176Asn)
|
rs1553674143
|
|
NM_015488.5(PNKD):c.528C>A (p.Asp176Glu)
|
|
|
NM_015488.5(PNKD):c.531C>T (p.His177=)
|
rs2106294834
|
|
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.550C>T (p.Leu184Phe)
|
|
|
NM_015488.5(PNKD):c.554G>C (p.Ser185Thr)
|
|
|
NM_015488.5(PNKD):c.556C>T (p.Arg186Trp)
|
|
|
NM_015488.5(PNKD):c.560G>A (p.Arg187Gln)
|
rs141506076
|
|
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.576G>A (p.Arg192=)
|
|
|
NM_015488.5(PNKD):c.579G>A (p.Val193=)
|
rs1378240041
|
|
NM_015488.5(PNKD):c.582C>T (p.Tyr194=)
|
|
|
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.609C>T (p.Tyr203=)
|
|
|
NM_015488.5(PNKD):c.610C>G (p.Leu204Val)
|
|
|
NM_015488.5(PNKD):c.612C>T (p.Leu204=)
|
rs1574720024
|
|
NM_015488.5(PNKD):c.614C>A (p.Thr205Asn)
|
|
|
NM_015488.5(PNKD):c.617+17G>A
|
|
|
NM_015488.5(PNKD):c.617+5G>C
|
rs1553674205
|
|
NM_015488.5(PNKD):c.630T>G (p.His210Gln)
|
rs1694691035
|
|
NM_015488.5(PNKD):c.637G>A (p.Val213Met)
|
|
|
NM_015488.5(PNKD):c.641_649del (p.Val214_Val216del)
|
rs1694691273
|
|
NM_015488.5(PNKD):c.652C>T (p.Arg218Trp)
|
rs34745867
|
|
NM_015488.5(PNKD):c.658C>G (p.Gln220Glu)
|
|
|
NM_015488.5(PNKD):c.663C>G (p.Ile221Met)
|
rs749437540
|
|
NM_015488.5(PNKD):c.667G>A (p.Ala223Thr)
|
|
|
NM_015488.5(PNKD):c.692A>C (p.Gln231Pro)
|
rs1694693946
|
|
NM_015488.5(PNKD):c.693del (p.Gly232fs)
|
rs773192502
|
|
NM_015488.5(PNKD):c.696C>A (p.Gly232=)
|
|
|
NM_015488.5(PNKD):c.699T>C (p.His233=)
|
|
|
NM_015488.5(PNKD):c.716A>T (p.Asp239Val)
|
rs1553674341
|
|
NM_015488.5(PNKD):c.718G>A (p.Gly240Arg)
|
|
|
NM_015488.5(PNKD):c.724C>T (p.Pro242Ser)
|
rs1694695921
|
|
NM_015488.5(PNKD):c.738C>T (p.Pro246=)
|
|
|
NM_015488.5(PNKD):c.745C>T (p.Leu249Phe)
|
rs1199556893
|
|
NM_015488.5(PNKD):c.758A>T (p.Asp253Val)
|
|
|
NM_015488.5(PNKD):c.768C>A (p.Phe256Leu)
|
|
|
NM_015488.5(PNKD):c.770T>C (p.Leu257Pro)
|
|
|
NM_015488.5(PNKD):c.773C>T (p.Ser258Phe)
|
rs777714592
|
|
NM_015488.5(PNKD):c.781+13G>C
|
rs201802667
|
|
NM_015488.5(PNKD):c.781+16AG[3]
|
rs373351932
|
|
NM_015488.5(PNKD):c.781+17G>A
|
rs566000311
|
|
NM_015488.5(PNKD):c.781+19G>A
|
rs768075145
|
|
NM_015488.5(PNKD):c.782-15C>G
|
rs1694740535
|
|
NM_015488.5(PNKD):c.782-5C>T
|
rs771442259
|
|
NM_015488.5(PNKD):c.782-7C>T
|
rs773884627
|
|
NM_015488.5(PNKD):c.789C>T (p.Thr263=)
|
|
|
NM_015488.5(PNKD):c.793G>A (p.Glu265Lys)
|
|
|
NM_015488.5(PNKD):c.795G>T (p.Glu265Asp)
|
|
|
NM_015488.5(PNKD):c.801T>G (p.Asn267Lys)
|
|
|
NM_015488.5(PNKD):c.822A>G (p.Ser274=)
|
rs2106297256
|
|
NM_015488.5(PNKD):c.827A>C (p.Asp276Ala)
|
|
|
NM_015488.5(PNKD):c.833_834del (p.Val278fs)
|
|
|
NM_015488.5(PNKD):c.839G>A (p.Gly280Glu)
|
rs766132328
|
|
NM_015488.5(PNKD):c.841C>A (p.Leu281Ile)
|
|
|
NM_015488.5(PNKD):c.855C>A (p.Thr285=)
|
|
|
NM_015488.5(PNKD):c.855C>T (p.Thr285=)
|
rs778631207
|
|
NM_015488.5(PNKD):c.857T>C (p.Leu286Pro)
|
|
|
NM_015488.5(PNKD):c.864G>A (p.Trp288Ter)
|
|
|
NM_015488.5(PNKD):c.868+18T>C
|
|
|
NM_015488.5(PNKD):c.868+7C>T
|
rs1574722529
|
|
NM_015488.5(PNKD):c.868+8_868+20del
|
rs2106297333
|
|
NM_015488.5(PNKD):c.869-15C>G
|
|
|
NM_015488.5(PNKD):c.869-17C>G
|
|
|
NM_015488.5(PNKD):c.869-6C>T
|
|
|
NM_015488.5(PNKD):c.872A>C (p.His291Pro)
|
|
|
NM_015488.5(PNKD):c.876G>C (p.Glu292Asp)
|
|
|
NM_015488.5(PNKD):c.876G>T (p.Glu292Asp)
|
|
|
NM_015488.5(PNKD):c.878A>G (p.Tyr293Cys)
|
rs1694770280
|
|
NM_015488.5(PNKD):c.894G>A (p.Leu298=)
|
|
|
NM_015488.5(PNKD):c.902C>T (p.Ala301Val)
|
rs2106298348
|
|
NM_015488.5(PNKD):c.905G>A (p.Gly302Asp)
|
|
|
NM_015488.5(PNKD):c.906T>G (p.Gly302=)
|
|
|
NM_015488.5(PNKD):c.910G>A (p.Val304Met)
|
|
|
NM_015488.5(PNKD):c.916C>T (p.Pro306Ser)
|
rs1247054660
|
|
NM_015488.5(PNKD):c.926T>C (p.Leu309Pro)
|
|
|
NM_015488.5(PNKD):c.930C>A (p.Ala310=)
|
rs146224183
|
|
NM_015488.5(PNKD):c.930C>G (p.Ala310=)
|
rs146224183
|
|
NM_015488.5(PNKD):c.931C>G (p.Arg311Gly)
|
|
|
NM_015488.5(PNKD):c.936G>A (p.Glu312=)
|
|
|
NM_015488.5(PNKD):c.937A>T (p.Arg313Trp)
|
rs2106298400
|
|
NM_015488.5(PNKD):c.948G>A (p.Gln316=)
|
|
|
NM_015488.5(PNKD):c.949T>C (p.Trp317Arg)
|
|
|
NM_015488.5(PNKD):c.953T>G (p.Val318Gly)
|
|
|
NM_015488.5(PNKD):c.958C>G (p.Arg320Gly)
|
|
|
NM_015488.5(PNKD):c.962A>G (p.Gln321Arg)
|
|
|
NM_015488.5(PNKD):c.972G>A (p.Glu324=)
|
|
|
NM_015488.5(PNKD):c.978G>A (p.Lys326=)
|
|
|
NM_015488.5(PNKD):c.982A>T (p.Thr328Ser)
|
rs1225358282
|
|
NM_015488.5(PNKD):c.984+14G>A
|
|
|
NM_015488.5(PNKD):c.984+14_984+15del
|
rs754161794
|
|
NM_015488.5(PNKD):c.984+18C>T
|
|
|
NM_015488.5(PNKD):c.984+2T>G
|
|
|
NM_015488.5(PNKD):c.985-1G>C
|
rs1694783221
|
|
NM_015488.5(PNKD):c.989C>T (p.Pro330Leu)
|
|
|
NM_015488.5(PNKD):c.994A>G (p.Thr332Ala)
|
|
|
NM_015488.5(PNKD):c.999G>A (p.Leu333=)
|
|
|