NM_007254.4(PNKP):c.*15C>T
|
rs1050332
|
0.00609
|
NM_007254.4(PNKP):c.1522G>A (p.Glu508Lys)
|
rs146478958
|
0.00280
|
NM_007254.4(PNKP):c.416G>A (p.Arg139His)
|
rs34472250
|
0.00185
|
NM_007254.4(PNKP):c.831G>A (p.Thr277=)
|
rs148491228
|
0.00128
|
NM_007254.4(PNKP):c.1029+2T>C
|
rs199919568
|
0.00115
|
NM_007254.4(PNKP):c.-90G>A
|
rs142120097
|
0.00105
|
NM_007254.4(PNKP):c.901C>T (p.Arg301Trp)
|
rs201503405
|
0.00061
|
NM_007254.4(PNKP):c.188C>T (p.Ala63Val)
|
rs3739173
|
0.00047
|
NM_007254.4(PNKP):c.519C>T (p.Asp173=)
|
rs144284975
|
0.00047
|
NM_007254.4(PNKP):c.627G>A (p.Glu209=)
|
rs532550120
|
0.00040
|
NM_007254.4(PNKP):c.893C>T (p.Ala298Val)
|
rs145615734
|
0.00037
|
NM_007254.4(PNKP):c.308C>T (p.Thr103Ile)
|
rs115419706
|
0.00033
|
NM_007254.4(PNKP):c.587A>G (p.Tyr196Cys)
|
rs138931842
|
0.00033
|
NM_007254.4(PNKP):c.876A>G (p.Gly292=)
|
rs3739199
|
0.00033
|
NM_007254.4(PNKP):c.671G>A (p.Arg224His)
|
rs199705876
|
0.00025
|
NM_007254.4(PNKP):c.*43G>A
|
rs202061196
|
0.00021
|
NM_007254.4(PNKP):c.-35T>C
|
rs550311179
|
0.00021
|
NM_007254.4(PNKP):c.678G>A (p.Lys226=)
|
rs141969535
|
0.00021
|
NM_007254.4(PNKP):c.290A>G (p.Asn97Ser)
|
rs140290151
|
0.00019
|
NM_007254.4(PNKP):c.-74G>A
|
rs886054584
|
0.00017
|
NM_007254.4(PNKP):c.1413T>C (p.His471=)
|
rs370017666
|
0.00016
|
NM_007254.4(PNKP):c.1412A>T (p.His471Leu)
|
rs142032281
|
0.00015
|
NM_007254.4(PNKP):c.179G>A (p.Arg60Gln)
|
rs374743798
|
0.00015
|
NM_007254.4(PNKP):c.106G>A (p.Gly36Arg)
|
rs949517384
|
0.00014
|
NM_007254.4(PNKP):c.1298+2_1298+5dup
|
rs776617733
|
0.00013
|
NM_007254.4(PNKP):c.19C>T (p.Pro7Ser)
|
rs201221600
|
0.00013
|
NM_007254.4(PNKP):c.1211G>A (p.Arg404His)
|
rs549069697
|
0.00012
|
NM_007254.4(PNKP):c.579-4G>A
|
rs371834726
|
0.00011
|
NM_007254.4(PNKP):c.1298+6G>A
|
rs578207030
|
0.00010
|
NM_007254.4(PNKP):c.275C>T (p.Thr92Ile)
|
rs780440711
|
0.00010
|
NM_007254.4(PNKP):c.670C>T (p.Arg224Cys)
|
rs761117623
|
0.00010
|
NM_007254.4(PNKP):c.994C>T (p.Pro332Ser)
|
rs373922574
|
0.00010
|
NM_007254.4(PNKP):c.109C>T (p.Pro37Ser)
|
rs536541839
|
0.00009
|
NM_007254.4(PNKP):c.151+18T>G
|
rs55756709
|
0.00009
|
NM_007254.4(PNKP):c.822C>T (p.Asn274=)
|
rs780677866
|
0.00009
|
NM_007254.4(PNKP):c.1441G>A (p.Gly481Ser)
|
rs146941866
|
0.00007
|
NM_007254.4(PNKP):c.1003G>A (p.Gly335Ser)
|
rs768567927
|
0.00006
|
NM_007254.4(PNKP):c.1009G>C (p.Glu337Gln)
|
rs780121125
|
0.00006
|
NM_007254.4(PNKP):c.1186A>G (p.Arg396Gly)
|
rs563918674
|
0.00006
|
NM_007254.4(PNKP):c.1387-11G>A
|
rs200785744
|
0.00006
|
NM_007254.4(PNKP):c.1397T>C (p.Met466Thr)
|
rs145886749
|
0.00006
|
NM_007254.4(PNKP):c.1443C>G (p.Gly481=)
|
rs376213146
|
0.00006
|
NM_007254.4(PNKP):c.1492A>C (p.Ile498Leu)
|
rs753116883
|
0.00006
|
NM_007254.4(PNKP):c.335C>G (p.Pro112Arg)
|
rs567905136
|
0.00006
|
NM_007254.4(PNKP):c.883G>A (p.Ala295Thr)
|
rs368887106
|
0.00006
|
NM_007254.4(PNKP):c.1163C>T (p.Ser388Leu)
|
rs146311500
|
0.00005
|
NM_007254.4(PNKP):c.355C>A (p.Pro119Thr)
|
rs376650849
|
0.00005
|
NM_007254.4(PNKP):c.782C>T (p.Pro261Leu)
|
rs755468325
|
0.00005
|
NM_007254.4(PNKP):c.861G>C (p.Val287=)
|
rs75203375
|
0.00005
|
NM_007254.4(PNKP):c.1126+9C>T
|
rs3739202
|
0.00004
|
NM_007254.4(PNKP):c.1177C>T (p.His393Tyr)
|
rs772610025
|
0.00004
|
NM_007254.4(PNKP):c.1202C>G (p.Ser401Cys)
|
rs899556646
|
0.00004
|
NM_007254.4(PNKP):c.1324G>A (p.Gly442Ser)
|
rs372459137
|
0.00004
|
NM_007254.4(PNKP):c.199-15C>T
|
rs201254691
|
0.00004
|
NM_007254.4(PNKP):c.212C>T (p.Pro71Leu)
|
rs772033320
|
0.00004
|
NM_007254.4(PNKP):c.264G>T (p.Gly88=)
|
rs766589333
|
0.00004
|
NM_007254.4(PNKP):c.61C>G (p.Pro21Ala)
|
rs201748578
|
0.00004
|
NM_007254.4(PNKP):c.1042C>T (p.Arg348Cys)
|
rs530663093
|
0.00003
|
NM_007254.4(PNKP):c.1285G>A (p.Ala429Thr)
|
rs148386689
|
0.00003
|
NM_007254.4(PNKP):c.1292G>A (p.Arg431His)
|
rs950502049
|
0.00003
|
NM_007254.4(PNKP):c.1308G>C (p.Gln436His)
|
rs780067167
|
0.00003
|
NM_007254.4(PNKP):c.1483T>C (p.Phe495Leu)
|
rs1165689250
|
0.00003
|
NM_007254.4(PNKP):c.1559A>G (p.Glu520Gly)
|
rs886043128
|
0.00003
|
NM_007254.4(PNKP):c.20C>T (p.Pro7Leu)
|
rs776442624
|
0.00003
|
NM_007254.4(PNKP):c.407C>T (p.Pro136Leu)
|
rs11555414
|
0.00003
|
NM_007254.4(PNKP):c.611G>A (p.Arg204Gln)
|
rs751820948
|
0.00003
|
NM_007254.4(PNKP):c.736C>T (p.Pro246Ser)
|
rs147553148
|
0.00003
|
NM_007254.4(PNKP):c.961T>C (p.Phe321Leu)
|
rs1210892846
|
0.00003
|
NM_007254.4(PNKP):c.979T>C (p.Phe327Leu)
|
rs912223009
|
0.00003
|
NM_007254.4(PNKP):c.1120C>T (p.Pro374Ser)
|
rs760583725
|
0.00002
|
NM_007254.4(PNKP):c.1121C>T (p.Pro374Leu)
|
rs1391995905
|
0.00002
|
NM_007254.4(PNKP):c.1158C>G (p.Leu386=)
|
rs373766090
|
0.00002
|
NM_007254.4(PNKP):c.1188+12C>T
|
rs780736753
|
0.00002
|
NM_007254.4(PNKP):c.1274A>G (p.Asn425Ser)
|
rs541840060
|
0.00002
|
NM_007254.4(PNKP):c.1286C>T (p.Ala429Val)
|
rs769707108
|
0.00002
|
NM_007254.4(PNKP):c.1370C>T (p.Ala457Val)
|
rs776349198
|
0.00002
|
NM_007254.4(PNKP):c.1511G>A (p.Arg504Gln)
|
rs745651405
|
0.00002
|
NM_007254.4(PNKP):c.248T>C (p.Leu83Ser)
|
rs756169949
|
0.00002
|
NM_007254.4(PNKP):c.314G>A (p.Arg105His)
|
rs535302504
|
0.00002
|
NM_007254.4(PNKP):c.344A>G (p.Gln115Arg)
|
rs200055661
|
0.00002
|
NM_007254.4(PNKP):c.673G>A (p.Gly225Arg)
|
rs144257114
|
0.00002
|
NM_007254.4(PNKP):c.811G>A (p.Glu271Lys)
|
rs1028247558
|
0.00002
|
NM_007254.4(PNKP):c.816G>A (p.Gln272=)
|
rs534099292
|
0.00002
|
NM_007254.4(PNKP):c.936+6G>A
|
rs751664776
|
0.00002
|
NM_007254.4(PNKP):c.1016C>T (p.Pro339Leu)
|
rs1025604697
|
0.00001
|
NM_007254.4(PNKP):c.1018G>C (p.Ala340Pro)
|
rs1194802183
|
0.00001
|
NM_007254.4(PNKP):c.1046C>T (p.Ser349Leu)
|
rs758045226
|
0.00001
|
NM_007254.4(PNKP):c.1048G>C (p.Gly350Arg)
|
rs750098786
|
0.00001
|
NM_007254.4(PNKP):c.1051C>T (p.Pro351Ser)
|
rs764879888
|
0.00001
|
NM_007254.4(PNKP):c.1052C>T (p.Pro351Leu)
|
rs797045891
|
0.00001
|
NM_007254.4(PNKP):c.1087G>A (p.Ala363Thr)
|
rs1187151464
|
0.00001
|
NM_007254.4(PNKP):c.10G>T (p.Val4Leu)
|
rs530767303
|
0.00001
|
NM_007254.4(PNKP):c.1108G>A (p.Ala370Thr)
|
rs945654606
|
0.00001
|
NM_007254.4(PNKP):c.1126+5G>A
|
rs1385764453
|
0.00001
|
NM_007254.4(PNKP):c.1129G>A (p.Gly377Arg)
|
rs777457079
|
0.00001
|
NM_007254.4(PNKP):c.1145T>C (p.Leu382Pro)
|
rs796052855
|
0.00001
|
NM_007254.4(PNKP):c.1193C>T (p.Thr398Met)
|
rs1010036717
|
0.00001
|
NM_007254.4(PNKP):c.1210C>T (p.Arg404Cys)
|
rs768304312
|
0.00001
|
NM_007254.4(PNKP):c.1217T>G (p.Val406Gly)
|
rs141938129
|
0.00001
|
NM_007254.4(PNKP):c.1219A>C (p.Thr407Pro)
|
rs199652836
|
0.00001
|
NM_007254.4(PNKP):c.1232C>T (p.Thr411Ile)
|
rs868384150
|
0.00001
|
NM_007254.4(PNKP):c.1235C>T (p.Ala412Val)
|
rs1060502500
|
0.00001
|
NM_007254.4(PNKP):c.1247G>A (p.Gly416Glu)
|
rs1198936842
|
0.00001
|
NM_007254.4(PNKP):c.1255G>A (p.Val419Ile)
|
rs756416098
|
0.00001
|
NM_007254.4(PNKP):c.1258G>T (p.Ala420Ser)
|
rs754981151
|
0.00001
|
NM_007254.4(PNKP):c.1282G>A (p.Ala428Thr)
|
rs1568659088
|
0.00001
|
NM_007254.4(PNKP):c.1295C>T (p.Ala432Val)
|
rs1568658987
|
0.00001
|
NM_007254.4(PNKP):c.1303G>A (p.Val435Ile)
|
rs1568658756
|
0.00001
|
NM_007254.4(PNKP):c.1309T>C (p.Cys437Arg)
|
rs772111430
|
0.00001
|
NM_007254.4(PNKP):c.1330C>T (p.Pro444Ser)
|
rs1191025361
|
0.00001
|
NM_007254.4(PNKP):c.1331C>T (p.Pro444Leu)
|
rs908736344
|
0.00001
|
NM_007254.4(PNKP):c.1373G>A (p.Arg458His)
|
rs1187812495
|
0.00001
|
NM_007254.4(PNKP):c.1384C>T (p.Arg462Trp)
|
rs778893834
|
0.00001
|
NM_007254.4(PNKP):c.1387-3C>G
|
rs1470343514
|
0.00001
|
NM_007254.4(PNKP):c.1389T>G (p.Phe463Leu)
|
rs763116781
|
0.00001
|
NM_007254.4(PNKP):c.1429A>G (p.Met477Val)
|
rs796052856
|
0.00001
|
NM_007254.4(PNKP):c.1430T>C (p.Met477Thr)
|
rs766655539
|
0.00001
|
NM_007254.4(PNKP):c.1432G>A (p.Val478Ile)
|
rs796052857
|
0.00001
|
NM_007254.4(PNKP):c.1465C>T (p.Pro489Ser)
|
rs746916070
|
0.00001
|
NM_007254.4(PNKP):c.1477G>A (p.Glu493Lys)
|
rs1488577824
|
0.00001
|
NM_007254.4(PNKP):c.1496T>A (p.Leu499Gln)
|
rs774739756
|
0.00001
|
NM_007254.4(PNKP):c.14A>G (p.Glu5Gly)
|
rs1278449939
|
0.00001
|
NM_007254.4(PNKP):c.151G>C (p.Val51Leu)
|
rs753839317
|
0.00001
|
NM_007254.4(PNKP):c.152-8A>G
|
rs751424212
|
0.00001
|
NM_007254.4(PNKP):c.152T>G (p.Val51Gly)
|
rs758700077
|
0.00001
|
NM_007254.4(PNKP):c.1537C>T (p.Arg513Trp)
|
rs112217838
|
0.00001
|
NM_007254.4(PNKP):c.1538G>A (p.Arg513Gln)
|
rs761491872
|
0.00001
|
NM_007254.4(PNKP):c.1558G>C (p.Glu520Gln)
|
rs770823063
|
0.00001
|
NM_007254.4(PNKP):c.1561G>A (p.Gly521Ser)
|
rs1289682803
|
0.00001
|
NM_007254.4(PNKP):c.184G>A (p.Val62Met)
|
rs1467903741
|
0.00001
|
NM_007254.4(PNKP):c.199-7T>A
|
rs904994238
|
0.00001
|
NM_007254.4(PNKP):c.313C>T (p.Arg105Cys)
|
rs1016887861
|
0.00001
|
NM_007254.4(PNKP):c.329G>A (p.Arg110His)
|
rs867937617
|
0.00001
|
NM_007254.4(PNKP):c.473C>T (p.Ala158Val)
|
rs372615308
|
0.00001
|
NM_007254.4(PNKP):c.482T>C (p.Val161Ala)
|
rs368921337
|
0.00001
|
NM_007254.4(PNKP):c.498G>A (p.Lys166=)
|
rs141251138
|
0.00001
|
NM_007254.4(PNKP):c.499-4C>G
|
rs545573584
|
0.00001
|
NM_007254.4(PNKP):c.520G>A (p.Gly174Arg)
|
rs142770020
|
0.00001
|
NM_007254.4(PNKP):c.566C>G (p.Pro189Arg)
|
rs570975244
|
0.00001
|
NM_007254.4(PNKP):c.56C>T (p.Ala19Val)
|
rs201258910
|
0.00001
|
NM_007254.4(PNKP):c.579-5C>T
|
rs767753048
|
0.00001
|
NM_007254.4(PNKP):c.602G>A (p.Arg201His)
|
rs150253619
|
0.00001
|
NM_007254.4(PNKP):c.625G>A (p.Glu209Lys)
|
rs773641701
|
0.00001
|
NM_007254.4(PNKP):c.634A>G (p.Lys212Glu)
|
rs762187891
|
0.00001
|
NM_007254.4(PNKP):c.637C>T (p.Leu213=)
|
rs770006231
|
0.00001
|
NM_007254.4(PNKP):c.667G>A (p.Gly223Arg)
|
rs764562312
|
0.00001
|
NM_007254.4(PNKP):c.688G>A (p.Glu230Lys)
|
rs768745851
|
0.00001
|
NM_007254.4(PNKP):c.713C>T (p.Ala238Val)
|
rs746166841
|
0.00001
|
NM_007254.4(PNKP):c.718G>A (p.Val240Met)
|
rs1315272571
|
0.00001
|
NM_007254.4(PNKP):c.744+8T>C
|
rs587784370
|
0.00001
|
NM_007254.4(PNKP):c.758C>T (p.Thr253Met)
|
rs538161505
|
0.00001
|
NM_007254.4(PNKP):c.763G>A (p.Ala255Thr)
|
rs398124249
|
0.00001
|
NM_007254.4(PNKP):c.776G>A (p.Arg259Gln)
|
rs1358481768
|
0.00001
|
NM_007254.4(PNKP):c.788C>T (p.Thr263Met)
|
rs766704284
|
0.00001
|
NM_007254.4(PNKP):c.794T>C (p.Met265Thr)
|
rs756988038
|
0.00001
|
NM_007254.4(PNKP):c.816+6T>A
|
rs1313353571
|
0.00001
|
NM_007254.4(PNKP):c.830C>T (p.Thr277Met)
|
rs1453288814
|
0.00001
|
NM_007254.4(PNKP):c.853A>G (p.Ile285Val)
|
rs750224965
|
0.00001
|
NM_007254.4(PNKP):c.863G>A (p.Gly288Glu)
|
rs1215859117
|
0.00001
|
NM_007254.4(PNKP):c.865+6G>A
|
rs776910301
|
0.00001
|
NM_007254.4(PNKP):c.868G>A (p.Ala290Thr)
|
rs1485940017
|
0.00001
|
NM_007254.4(PNKP):c.872C>G (p.Ala291Gly)
|
rs1259588757
|
0.00001
|
NM_007254.4(PNKP):c.925G>A (p.Ala309Thr)
|
rs202022265
|
0.00001
|
NM_007254.4(PNKP):c.927C>A (p.Ala309=)
|
rs375879639
|
0.00001
|
NM_007254.4(PNKP):c.932G>A (p.Arg311His)
|
rs372435922
|
0.00001
|
NC_000019.10:g.(?_49861228)_(49861901_?)del
|
|
|
NC_000019.10:g.(?_49861228)_(49867224_?)dup
|
|
|
NM_007254.4(PNKP):c.*23A>C
|
rs886054582
|
|
NM_007254.4(PNKP):c.-105G>A
|
rs886054585
|
|
NM_007254.4(PNKP):c.-21G>C
|
rs893501652
|
|
NM_007254.4(PNKP):c.1001C>T (p.Ala334Val)
|
rs571217111
|
|
NM_007254.4(PNKP):c.1003G>T (p.Gly335Cys)
|
rs768567927
|
|
NM_007254.4(PNKP):c.1006T>G (p.Phe336Val)
|
rs747297456
|
|
NM_007254.4(PNKP):c.1029+3G>A
|
rs1304920403
|
|
NM_007254.4(PNKP):c.1029G>A (p.Pro343=)
|
rs796052853
|
|
NM_007254.4(PNKP):c.1030-12C>A
|
|
|
NM_007254.4(PNKP):c.1030-22_1041dup
|
rs2122325507
|
|
NM_007254.4(PNKP):c.1043G>A (p.Arg348His)
|
rs781551273
|
|
NM_007254.4(PNKP):c.1047A>T (p.Ser349=)
|
|
|
NM_007254.4(PNKP):c.1049G>A (p.Gly350Glu)
|
rs2122325421
|
|
NM_007254.4(PNKP):c.1066G>A (p.Glu356Lys)
|
rs1170743406
|
|
NM_007254.4(PNKP):c.1069T>C (p.Ser357Pro)
|
|
|
NM_007254.4(PNKP):c.1070C>T (p.Ser357Phe)
|
rs1359253510
|
|
NM_007254.4(PNKP):c.1073G>A (p.Arg358Lys)
|
rs1600417301
|
|
NM_007254.4(PNKP):c.1074_1085del (p.Arg358_Leu361del)
|
rs796052865
|
|
NM_007254.4(PNKP):c.107G>A (p.Gly36Glu)
|
rs756589726
|
|
NM_007254.4(PNKP):c.107G>C (p.Gly36Ala)
|
rs756589726
|
|
NM_007254.4(PNKP):c.107G>T (p.Gly36Val)
|
rs756589726
|
|
NM_007254.4(PNKP):c.1091G>A (p.Ser364Asn)
|
rs1473117442
|
|
NM_007254.4(PNKP):c.1098G>C (p.Glu366Asp)
|
rs755340060
|
|
NM_007254.4(PNKP):c.109C>G (p.Pro37Ala)
|
rs536541839
|
|
NM_007254.4(PNKP):c.1113G>A (p.Val371=)
|
rs1409679685
|
|
NM_007254.4(PNKP):c.1126+15C>T
|
rs748643212
|
|
NM_007254.4(PNKP):c.1126+4A>G
|
rs2122324733
|
|
NM_007254.4(PNKP):c.1126+5G>C
|
rs1385764453
|
|
NM_007254.4(PNKP):c.1127-20C>T
|
|
|
NM_007254.4(PNKP):c.1127-3C>T
|
|
|
NM_007254.4(PNKP):c.1127-9C>A
|
|
|
NM_007254.4(PNKP):c.1133A>C (p.Lys378Thr)
|
rs1600416892
|
|
NM_007254.4(PNKP):c.1144C>G (p.Leu382Val)
|
rs754921430
|
|
NM_007254.4(PNKP):c.1165G>A (p.Ala389Thr)
|
rs575803996
|
|
NM_007254.4(PNKP):c.1165G>T (p.Ala389Ser)
|
rs575803996
|
|
NM_007254.4(PNKP):c.1188+5G>A
|
|
|
NM_007254.4(PNKP):c.1189-5C>A
|
rs752826211
|
|
NM_007254.4(PNKP):c.1198G>C (p.Gly400Arg)
|
rs1568659304
|
|
NM_007254.4(PNKP):c.121G>C (p.Val41Leu)
|
rs2074826079
|
|
NM_007254.4(PNKP):c.1223C>A (p.Thr408Lys)
|
rs774130130
|
|
NM_007254.4(PNKP):c.1226G>T (p.Cys409Phe)
|
rs2074769803
|
|
NM_007254.4(PNKP):c.1231_1234del (p.Thr411fs)
|
rs886054583
|
|
NM_007254.4(PNKP):c.124A>G (p.Thr42Ala)
|
rs2074826042
|
|
NM_007254.4(PNKP):c.1258G>A (p.Ala420Thr)
|
rs754981151
|
|
NM_007254.4(PNKP):c.1263C>G (p.Ile421Met)
|
|
|
NM_007254.4(PNKP):c.1264G>C (p.Asp422His)
|
|
|
NM_007254.4(PNKP):c.1270_1281dup (p.Thr424_Asp427dup)
|
rs1258095629
|
|
NM_007254.4(PNKP):c.1276C>G (p.Pro426Ala)
|
|
|
NM_007254.4(PNKP):c.1282G>T (p.Ala428Ser)
|
rs1568659088
|
|
NM_007254.4(PNKP):c.1285G>T (p.Ala429Ser)
|
rs148386689
|
|
NM_007254.4(PNKP):c.1285_1286delinsCT (p.Ala429Leu)
|
rs1568659063
|
|
NM_007254.4(PNKP):c.1286C>A (p.Ala429Glu)
|
rs769707108
|
|
NM_007254.4(PNKP):c.1286C>G (p.Ala429Gly)
|
rs769707108
|
|
NM_007254.4(PNKP):c.1288_1298+1del
|
rs1555810849
|
|
NM_007254.4(PNKP):c.1288_1298+6dup
|
rs1555810844
|
|
NM_007254.4(PNKP):c.1289G>A (p.Ser430Asn)
|
|
|
NM_007254.4(PNKP):c.1290_1298+6dup
|
|
|
NM_007254.4(PNKP):c.1291_1298+5dup
|
rs1568658937
|
|
NM_007254.4(PNKP):c.1295_1298+6dup
|
|
|
NM_007254.4(PNKP):c.1296_1297insCCC (p.Ala432_Arg433insPro)
|
|
|
NM_007254.4(PNKP):c.1298+19dup
|
rs1298736755
|
|
NM_007254.4(PNKP):c.1303_1305del (p.Val435del)
|
rs2074764505
|
|
NM_007254.4(PNKP):c.1304T>C (p.Val435Ala)
|
|
|
NM_007254.4(PNKP):c.1314_1322dup (p.Arg439_Ala441dup)
|
rs2122319196
|
|
NM_007254.4(PNKP):c.1315C>G (p.Arg439Gly)
|
rs539286945
|
|
NM_007254.4(PNKP):c.1316_1317delinsTT (p.Arg439Leu)
|
rs2074764098
|
|
NM_007254.4(PNKP):c.1319C>G (p.Ala440Gly)
|
rs377688490
|
|
NM_007254.4(PNKP):c.131G>A (p.Arg44Gln)
|
rs1568663138
|
|
NM_007254.4(PNKP):c.1320C>T (p.Ala440=)
|
rs565533397
|
|
NM_007254.4(PNKP):c.1321G>A (p.Ala441Thr)
|
rs1351594110
|
|
NM_007254.4(PNKP):c.1322C>T (p.Ala441Val)
|
rs549000007
|
|
NM_007254.4(PNKP):c.1325G>A (p.Gly442Asp)
|
rs1360064159
|
|
NM_007254.4(PNKP):c.1327G>T (p.Val443Phe)
|
rs1421167718
|
|
NM_007254.4(PNKP):c.1336C>T (p.Arg446Cys)
|
rs1271713057
|
|
NM_007254.4(PNKP):c.1337_1342del (p.Arg446_Phe448delinsLeu)
|
rs2122318958
|
|
NM_007254.4(PNKP):c.1358C>A (p.Thr453Asn)
|
rs1455514180
|
|
NM_007254.4(PNKP):c.1360C>A (p.Leu454Met)
|
rs200611702
|
|
NM_007254.4(PNKP):c.1360C>G (p.Leu454Val)
|
rs200611702
|
|
NM_007254.4(PNKP):c.1363G>A (p.Glu455Lys)
|
rs2122318761
|
|
NM_007254.4(PNKP):c.1367A>G (p.Gln456Arg)
|
|
|
NM_007254.4(PNKP):c.1378AAC[1] (p.Asn461del)
|
rs796052863
|
|
NM_007254.4(PNKP):c.1381A>C (p.Asn461His)
|
rs775762473
|
|
NM_007254.4(PNKP):c.1381A>G (p.Asn461Asp)
|
rs775762473
|
|
NM_007254.4(PNKP):c.1385G>A (p.Arg462Gln)
|
rs376854895
|
|
NM_007254.4(PNKP):c.1385G>C (p.Arg462Pro)
|
rs376854895
|
|
NM_007254.4(PNKP):c.1387-3C>A
|
rs1470343514
|
|
NM_007254.4(PNKP):c.1387-3C>T
|
|
|
NM_007254.4(PNKP):c.1387-3_1387-2del
|
rs760066611
|
|
NM_007254.4(PNKP):c.1390C>A (p.Arg464=)
|
rs138249970
|
|
NM_007254.4(PNKP):c.1391G>C (p.Arg464Pro)
|
rs377619541
|
|
NM_007254.4(PNKP):c.1391G>T (p.Arg464Leu)
|
|
|
NM_007254.4(PNKP):c.1400C>A (p.Thr467Lys)
|
rs769109631
|
|
NM_007254.4(PNKP):c.1402G>A (p.Asp468Asn)
|
rs778647353
|
|
NM_007254.4(PNKP):c.1409C>G (p.Ser470Cys)
|
|
|
NM_007254.4(PNKP):c.1409C>T (p.Ser470Phe)
|
rs1231560062
|
|
NM_007254.4(PNKP):c.1412A>C (p.His471Pro)
|
rs142032281
|
|
NM_007254.4(PNKP):c.1422G>A (p.Val474=)
|
rs1017330396
|
|
NM_007254.4(PNKP):c.1424C>T (p.Ser475Leu)
|
rs1600414629
|
|
NM_007254.4(PNKP):c.1435A>G (p.Met479Val)
|
rs1264163330
|
|
NM_007254.4(PNKP):c.1436T>C (p.Met479Thr)
|
|
|
NM_007254.4(PNKP):c.1459G>A (p.Glu487Lys)
|
|
|
NM_007254.4(PNKP):c.1469C>T (p.Thr490Met)
|
rs2122316177
|
|
NM_007254.4(PNKP):c.1480G>A (p.Gly494Ser)
|
|
|
NM_007254.4(PNKP):c.1480G>T (p.Gly494Cys)
|
rs753976364
|
|
NM_007254.4(PNKP):c.1482C>A (p.Gly494=)
|
rs60279874
|
|
NM_007254.4(PNKP):c.1494C>G (p.Ile498Met)
|
rs368390840
|
|
NM_007254.4(PNKP):c.1499A>G (p.Glu500Gly)
|
rs2074753789
|
|
NM_007254.4(PNKP):c.1503C>G (p.Ile501Met)
|
rs1293393287
|
|
NM_007254.4(PNKP):c.1505C>T (p.Pro502Leu)
|
rs776190168
|
|
NM_007254.4(PNKP):c.151+6C>A
|
|
|
NM_007254.4(PNKP):c.1510C>G (p.Arg504Gly)
|
rs148669160
|
|
NM_007254.4(PNKP):c.1510C>T (p.Arg504Trp)
|
rs148669160
|
|
NM_007254.4(PNKP):c.1516T>C (p.Trp506Arg)
|
rs2074753341
|
|
NM_007254.4(PNKP):c.1518G>C (p.Trp506Cys)
|
rs2122315682
|
|
NM_007254.4(PNKP):c.152-17A>C
|
|
|
NM_007254.4(PNKP):c.1531C>T (p.Leu511=)
|
rs1423615371
|
|
NM_007254.4(PNKP):c.1534G>A (p.Gly512Arg)
|
|
|
NM_007254.4(PNKP):c.1534G>C (p.Gly512Arg)
|
rs2074752931
|
|
NM_007254.4(PNKP):c.1535G>C (p.Gly512Ala)
|
|
|
NM_007254.4(PNKP):c.153G>A (p.Val51=)
|
rs2074821167
|
|
NM_007254.4(PNKP):c.1548C>G (p.Cys516Trp)
|
rs745579629
|
|
NM_007254.4(PNKP):c.1550A>T (p.Gln517Leu)
|
|
|
NM_007254.4(PNKP):c.1552T>C (p.Phe518Leu)
|
rs979727253
|
|
NM_007254.4(PNKP):c.1553T>A (p.Phe518Tyr)
|
|
|
NM_007254.4(PNKP):c.1558G>A (p.Glu520Lys)
|
rs770823063
|
|
NM_007254.4(PNKP):c.1566A>G (p.Ter522Trp)
|
rs2122315087
|
|
NM_007254.4(PNKP):c.161T>A (p.Val54Asp)
|
rs2074821139
|
|
NM_007254.4(PNKP):c.176C>T (p.Thr59Ile)
|
|
|
NM_007254.4(PNKP):c.178C>T (p.Arg60Trp)
|
rs761948305
|
|
NM_007254.4(PNKP):c.191T>G (p.Val64Gly)
|
rs1600422789
|
|
NM_007254.4(PNKP):c.199-8_199-5del
|
rs751037387
|
|
NM_007254.4(PNKP):c.200T>G (p.Leu67Arg)
|
rs747002499
|
|
NM_007254.4(PNKP):c.224G>T (p.Gly75Val)
|
rs2074810870
|
|
NM_007254.4(PNKP):c.227C>T (p.Thr76Ile)
|
rs1600421787
|
|
NM_007254.4(PNKP):c.241C>T (p.Pro81Ser)
|
rs1231251848
|
|
NM_007254.4(PNKP):c.251A>C (p.Glu84Ala)
|
rs2074810716
|
|
NM_007254.4(PNKP):c.266T>C (p.Val89Ala)
|
|
|
NM_007254.4(PNKP):c.26_27delinsTT (p.Arg9Leu)
|
rs2074827288
|
|
NM_007254.4(PNKP):c.277C>G (p.Leu93Val)
|
|
|
NM_007254.4(PNKP):c.302C>T (p.Pro101Leu)
|
rs587784367
|
|
NM_007254.4(PNKP):c.30G>T (p.Leu10Phe)
|
rs376146751
|
|
NM_007254.4(PNKP):c.311T>C (p.Leu104Pro)
|
rs1159790949
|
|
NM_007254.4(PNKP):c.314G>T (p.Arg105Leu)
|
|
|
NM_007254.4(PNKP):c.322G>A (p.Glu108Lys)
|
|
|
NM_007254.4(PNKP):c.325A>T (p.Thr109Ser)
|
rs979192418
|
|
NM_007254.4(PNKP):c.331A>G (p.Thr111Ala)
|
rs1239561285
|
|
NM_007254.4(PNKP):c.331A>T (p.Thr111Ser)
|
rs1239561285
|
|
NM_007254.4(PNKP):c.332C>T (p.Thr111Ile)
|
rs756223253
|
|
NM_007254.4(PNKP):c.33G>T (p.Trp11Cys)
|
rs577282123
|
|
NM_007254.4(PNKP):c.349G>C (p.Asp117His)
|
|
|
NM_007254.4(PNKP):c.356C>A (p.Pro119Gln)
|
rs1477930328
|
|
NM_007254.4(PNKP):c.365C>T (p.Thr122Ile)
|
|
|
NM_007254.4(PNKP):c.368C>A (p.Pro123His)
|
|
|
NM_007254.4(PNKP):c.374T>C (p.Val125Ala)
|
|
|
NM_007254.4(PNKP):c.386AGA[1] (p.Lys130del)
|
|
|
NM_007254.4(PNKP):c.394G>C (p.Asp132His)
|
rs1555811583
|
|
NM_007254.4(PNKP):c.406C>G (p.Pro136Ala)
|
rs759530456
|
|
NM_007254.4(PNKP):c.407C>G (p.Pro136Arg)
|
|
|
NM_007254.4(PNKP):c.407_421dup (p.Pro136_Met140dup)
|
rs2074809327
|
|
NM_007254.4(PNKP):c.41G>A (p.Ser14Asn)
|
rs749769775
|
|
NM_007254.4(PNKP):c.421C>T (p.Arg141Trp)
|
rs755037999
|
|
NM_007254.4(PNKP):c.42C>A (p.Ser14Arg)
|
rs751327913
|
|
NM_007254.4(PNKP):c.42C>T (p.Ser14=)
|
rs751327913
|
|
NM_007254.4(PNKP):c.430A>G (p.Asn144Asp)
|
rs551774481
|
|
NM_007254.4(PNKP):c.432C>A (p.Asn144Lys)
|
rs367883177
|
|
NM_007254.4(PNKP):c.446A>G (p.Asn149Ser)
|
|
|
NM_007254.4(PNKP):c.457T>C (p.Leu153=)
|
rs587784368
|
|
NM_007254.4(PNKP):c.469A>G (p.Thr157Ala)
|
rs376383779
|
|
NM_007254.4(PNKP):c.47C>T (p.Pro16Leu)
|
|
|
NM_007254.4(PNKP):c.496A>C (p.Lys166Gln)
|
rs2074808568
|
|
NM_007254.4(PNKP):c.498+3G>T
|
rs2074808518
|
|
NM_007254.4(PNKP):c.498G>T (p.Lys166Asn)
|
rs141251138
|
|
NM_007254.4(PNKP):c.513T>G (p.Asp171Glu)
|
rs929865929
|
|
NM_007254.4(PNKP):c.524C>T (p.Thr175Met)
|
rs2074802994
|
|
NM_007254.4(PNKP):c.527T>C (p.Leu176Pro)
|
|
|
NM_007254.4(PNKP):c.538C>T (p.Arg180Cys)
|
rs3739185
|
|
NM_007254.4(PNKP):c.539G>A (p.Arg180His)
|
rs779492301
|
|
NM_007254.4(PNKP):c.539G>C (p.Arg180Pro)
|
rs779492301
|
|
NM_007254.4(PNKP):c.544G>A (p.Gly182Arg)
|
rs2074802768
|
|
NM_007254.4(PNKP):c.576G>C (p.Trp192Cys)
|
|
|
NM_007254.4(PNKP):c.580A>C (p.Ile194Leu)
|
rs1600420665
|
|
NM_007254.4(PNKP):c.584T>C (p.Leu195Ser)
|
|
|
NM_007254.4(PNKP):c.587A>T (p.Tyr196Phe)
|
rs138931842
|
|
NM_007254.4(PNKP):c.589C>A (p.Pro197Thr)
|
rs201968000
|
|
NM_007254.4(PNKP):c.58C>A (p.Pro20Thr)
|
rs3739168
|
|
NM_007254.4(PNKP):c.593A>C (p.Glu198Ala)
|
|
|
NM_007254.4(PNKP):c.598C>A (p.Pro200Thr)
|
rs1555811465
|
|
NM_007254.4(PNKP):c.610C>G (p.Arg204Gly)
|
|
|
NM_007254.4(PNKP):c.61C>T (p.Pro21Ser)
|
|
|
NM_007254.4(PNKP):c.622G>C (p.Ala208Pro)
|
|
|
NM_007254.4(PNKP):c.632A>G (p.Tyr211Cys)
|
rs1600420551
|
|
NM_007254.4(PNKP):c.636+6_636+7del
|
|
|
NM_007254.4(PNKP):c.637-3C>T
|
rs2074800259
|
|
NM_007254.4(PNKP):c.639G>T (p.Leu213=)
|
|
|
NM_007254.4(PNKP):c.666C>G (p.Ile222Met)
|
rs587784369
|
|
NM_007254.4(PNKP):c.666C>T (p.Ile222=)
|
rs587784369
|
|
NM_007254.4(PNKP):c.673G>C (p.Gly225Arg)
|
|
|
NM_007254.4(PNKP):c.683C>T (p.Pro228Leu)
|
rs2122334512
|
|
NM_007254.4(PNKP):c.688GAG[1] (p.Glu231del)
|
|
|
NM_007254.4(PNKP):c.703A>G (p.Lys235Glu)
|
rs2122334434
|
|
NM_007254.4(PNKP):c.721_723del (p.Glu241del)
|
rs2122334363
|
|
NM_007254.4(PNKP):c.731G>A (p.Gly244Glu)
|
rs777786941
|
|
NM_007254.4(PNKP):c.731G>T (p.Gly244Val)
|
|
|
NM_007254.4(PNKP):c.737C>A (p.Pro246His)
|
|
|
NM_007254.4(PNKP):c.744+3A>G
|
|
|
NM_007254.4(PNKP):c.745-7_745-6delinsAA
|
|
|
NM_007254.4(PNKP):c.755C>T (p.Ala252Val)
|
rs2122333454
|
|
NM_007254.4(PNKP):c.775C>T (p.Arg259Trp)
|
rs368301643
|
|
NM_007254.4(PNKP):c.793A>G (p.Met265Val)
|
|
|
NM_007254.4(PNKP):c.7G>A (p.Glu3Lys)
|
|
|
NM_007254.4(PNKP):c.816+3G>A
|
rs763767031
|
|
NM_007254.4(PNKP):c.816+4_816+22del
|
rs2122333064
|
|
NM_007254.4(PNKP):c.817-3T>C
|
rs2074787691
|
|
NM_007254.4(PNKP):c.820A>G (p.Asn274Asp)
|
rs1463305699
|
|
NM_007254.4(PNKP):c.820_825del (p.Asn274_Asp275del)
|
rs1600418728
|
|
NM_007254.4(PNKP):c.821_841del (p.Asn274_Ser280del)
|
rs1555811217
|
|
NM_007254.4(PNKP):c.823G>T (p.Asp275Tyr)
|
|
|
NM_007254.4(PNKP):c.825C>G (p.Asp275Glu)
|
rs2074787530
|
|
NM_007254.4(PNKP):c.826G>A (p.Gly276Ser)
|
rs746254179
|
|
NM_007254.4(PNKP):c.826G>C (p.Gly276Arg)
|
rs746254179
|
|
NM_007254.4(PNKP):c.827G>A (p.Gly276Asp)
|
|
|
NM_007254.4(PNKP):c.831_832delinsCT (p.Pro278Ser)
|
|
|
NM_007254.4(PNKP):c.853A>T (p.Ile285Phe)
|
rs750224965
|
|
NM_007254.4(PNKP):c.884C>G (p.Ala295Gly)
|
|
|
NM_007254.4(PNKP):c.884C>T (p.Ala295Val)
|
rs753695701
|
|
NM_007254.4(PNKP):c.896C>T (p.Pro299Leu)
|
rs2074784919
|
|
NM_007254.4(PNKP):c.906G>C (p.Lys302Asn)
|
rs1555811171
|
|
NM_007254.4(PNKP):c.910_912del (p.Lys304del)
|
rs2122328280
|
|
NM_007254.4(PNKP):c.911A>C (p.Lys304Thr)
|
|
|
NM_007254.4(PNKP):c.913G>A (p.Asp305Asn)
|
|
|
NM_007254.4(PNKP):c.920C>T (p.Ser307Phe)
|
rs1555811168
|
|
NM_007254.4(PNKP):c.920_922del (p.Ser307del)
|
rs886042225
|
|
NM_007254.4(PNKP):c.922T>C (p.Cys308Arg)
|
rs2074784418
|
|
NM_007254.4(PNKP):c.924C>G (p.Cys308Trp)
|
rs771622669
|
|
NM_007254.4(PNKP):c.928G>T (p.Asp310Tyr)
|
|
|
NM_007254.4(PNKP):c.936+5G>A
|
rs954048668
|
|
NM_007254.4(PNKP):c.943C>T (p.Leu315Phe)
|
|
|
NM_007254.4(PNKP):c.964G>A (p.Ala322Thr)
|
|
|
NM_007254.4(PNKP):c.986T>C (p.Leu329Pro)
|
rs2074781406
|
|