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.919G>A (p.Glu307Lys)
|
rs139825405
|
0.00053
|
NM_015488.5(PNKD):c.237-9G>A
|
rs371173395
|
0.00044
|
NM_015488.5(PNKD):c.323A>G (p.His108Arg)
|
rs142536637
|
0.00017
|
NM_015488.5(PNKD):c.781+13G>A
|
rs201802667
|
0.00014
|
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.498C>T (p.Val166=)
|
rs376951824
|
0.00008
|
NM_015488.5(PNKD):c.340C>T (p.Arg114Cys)
|
rs374529489
|
0.00007
|
NM_015488.5(PNKD):c.331A>G (p.Thr111Ala)
|
rs202190131
|
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.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.984+11C>T
|
rs779135692
|
0.00004
|
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.1047G>A (p.Ala349=)
|
rs575546377
|
0.00002
|
NM_015488.5(PNKD):c.1116G>A (p.Leu372=)
|
rs1237935847
|
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.357G>A (p.Val119=)
|
rs1303377436
|
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.868+17C>A
|
rs373858533
|
0.00002
|
NM_015488.5(PNKD):c.984+12G>A
|
rs546037398
|
0.00002
|
NM_015488.5(PNKD):c.1074G>A (p.Pro358=)
|
rs148953301
|
0.00001
|
NM_015488.5(PNKD):c.1149G>T (p.Lys383Asn)
|
rs760423147
|
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.524+18T>C
|
rs747704832
|
0.00001
|
NM_015488.5(PNKD):c.525-10T>C
|
rs1339930032
|
0.00001
|
NM_015488.5(PNKD):c.543C>T (p.Asn181=)
|
rs761712009
|
0.00001
|
NM_015488.5(PNKD):c.579G>T (p.Val193=)
|
rs1378240041
|
0.00001
|
NM_015488.5(PNKD):c.639G>T (p.Val213=)
|
rs764570137
|
0.00001
|
NM_015488.5(PNKD):c.782-19C>T
|
rs779635681
|
0.00001
|
NM_015488.5(PNKD):c.873T>C (p.His291=)
|
rs1383953923
|
0.00001
|
NM_015488.5(PNKD):c.918C>T (p.Pro306=)
|
rs780334841
|
0.00001
|
NM_015488.5(PNKD):c.985-9C>T
|
rs568589204
|
0.00001
|
NM_015488.5(PNKD):c.1023G>T (p.Pro341=)
|
|
|
NM_015488.5(PNKD):c.1068G>C (p.Pro356=)
|
rs139193832
|
|
NM_015488.5(PNKD):c.1095C>T (p.Asp365=)
|
|
|
NM_015488.5(PNKD):c.1102C>T (p.Arg368Trp)
|
rs185906233
|
|
NM_015488.5(PNKD):c.1140_1145del (p.Met381_His382del)
|
rs576363906
|
|
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.273C>T (p.Leu91=)
|
rs550380646
|
|
NM_015488.5(PNKD):c.280C>A (p.Arg94=)
|
rs754138242
|
|
NM_015488.5(PNKD):c.293G>T (p.Arg98Leu)
|
rs201495280
|
|
NM_015488.5(PNKD):c.309C>A (p.Arg103=)
|
rs2106292815
|
|
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.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.353-6C>T
|
rs1694625432
|
|
NM_015488.5(PNKD):c.375T>C (p.Pro125=)
|
rs940846331
|
|
NM_015488.5(PNKD):c.384G>C (p.Ser128=)
|
|
|
NM_015488.5(PNKD):c.408C>T (p.Ile136=)
|
|
|
NM_015488.5(PNKD):c.414C>G (p.Thr138=)
|
rs2106293207
|
|
NM_015488.5(PNKD):c.435T>C (p.Ala145=)
|
|
|
NM_015488.5(PNKD):c.442C>A (p.Pro148Thr)
|
rs545078283
|
|
NM_015488.5(PNKD):c.453T>G (p.Pro151=)
|
|
|
NM_015488.5(PNKD):c.462G>A (p.Val154=)
|
rs2106293300
|
|
NM_015488.5(PNKD):c.466-10T>C
|
rs1694647158
|
|
NM_015488.5(PNKD):c.466-15T>A
|
|
|
NM_015488.5(PNKD):c.466-7C>T
|
rs780814768
|
|
NM_015488.5(PNKD):c.471C>T (p.Ser157=)
|
|
|
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.531C>T (p.His177=)
|
rs2106294834
|
|
NM_015488.5(PNKD):c.550C>T (p.Leu184Phe)
|
|
|
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.609C>T (p.Tyr203=)
|
|
|
NM_015488.5(PNKD):c.612C>T (p.Leu204=)
|
rs1574720024
|
|
NM_015488.5(PNKD):c.617+17G>A
|
|
|
NM_015488.5(PNKD):c.663C>G (p.Ile221Met)
|
rs749437540
|
|
NM_015488.5(PNKD):c.696C>A (p.Gly232=)
|
|
|
NM_015488.5(PNKD):c.699T>C (p.His233=)
|
|
|
NM_015488.5(PNKD):c.738C>T (p.Pro246=)
|
|
|
NM_015488.5(PNKD):c.781+13G>C
|
rs201802667
|
|
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.822A>G (p.Ser274=)
|
rs2106297256
|
|
NM_015488.5(PNKD):c.855C>A (p.Thr285=)
|
|
|
NM_015488.5(PNKD):c.855C>T (p.Thr285=)
|
rs778631207
|
|
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.894G>A (p.Leu298=)
|
|
|
NM_015488.5(PNKD):c.906T>G (p.Gly302=)
|
|
|
NM_015488.5(PNKD):c.930C>A (p.Ala310=)
|
rs146224183
|
|
NM_015488.5(PNKD):c.936G>A (p.Glu312=)
|
|
|
NM_015488.5(PNKD):c.948G>A (p.Gln316=)
|
|
|
NM_015488.5(PNKD):c.972G>A (p.Glu324=)
|
|
|
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
|
|
|