NM_138694.4(PKHD1):c.12143A>G (p.Gln4048Arg)
|
rs9381994
|
0.52715
|
NM_138694.4(PKHD1):c.1234-5C>T
|
rs116124750
|
0.01262
|
NM_138694.4(PKHD1):c.8174-18T>A
|
rs111383080
|
0.01154
|
NM_138694.4(PKHD1):c.4035C>A (p.Gly1345=)
|
rs140791735
|
0.00769
|
NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg)
|
rs115045643
|
0.00681
|
NM_138694.4(PKHD1):c.5725C>T (p.Arg1909Trp)
|
rs115338476
|
0.00551
|
NM_138694.4(PKHD1):c.7942G>A (p.Gly2648Ser)
|
rs139555370
|
0.00158
|
NM_138694.4(PKHD1):c.1342G>C (p.Gly448Arg)
|
rs149781976
|
0.00146
|
NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu)
|
rs142526715
|
0.00145
|
NM_138694.4(PKHD1):c.1307C>G (p.Thr436Ser)
|
rs146789444
|
0.00093
|
NM_138694.4(PKHD1):c.3097+15G>T
|
rs376878007
|
0.00093
|
NM_138694.4(PKHD1):c.1486C>T (p.Arg496Ter)
|
rs137852949
|
0.00066
|
NM_138694.4(PKHD1):c.5768A>T (p.Gln1923Leu)
|
rs150838488
|
0.00057
|
NM_138694.4(PKHD1):c.11311-19C>G
|
rs181140024
|
0.00052
|
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)
|
rs137852944
|
0.00048
|
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys)
|
rs200179145
|
0.00044
|
NM_138694.4(PKHD1):c.7067C>T (p.Pro2356Leu)
|
rs141360909
|
0.00044
|
NM_138694.4(PKHD1):c.11310+13A>G
|
rs191991777
|
0.00043
|
NM_138694.4(PKHD1):c.334G>A (p.Gly112Arg)
|
rs149841071
|
0.00039
|
NM_138694.4(PKHD1):c.2825G>C (p.Gly942Ala)
|
rs142205860
|
0.00032
|
NM_138694.4(PKHD1):c.8174-19A>T
|
rs758233215
|
0.00028
|
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg)
|
rs149798764
|
0.00024
|
NM_138694.4(PKHD1):c.3098-13G>A
|
rs371242359
|
0.00022
|
NM_138694.4(PKHD1):c.5324G>A (p.Arg1775Gln)
|
rs370557603
|
0.00022
|
NM_138694.4(PKHD1):c.5585C>T (p.Ser1862Leu)
|
rs147933501
|
0.00022
|
NM_138694.4(PKHD1):c.2821+10G>A
|
rs367619854
|
0.00020
|
NM_138694.4(PKHD1):c.3851C>T (p.Pro1284Leu)
|
rs139838478
|
0.00020
|
NM_138694.4(PKHD1):c.1603-19T>A
|
rs201996881
|
0.00019
|
NM_138694.4(PKHD1):c.6490+8A>G
|
rs201984652
|
0.00018
|
NM_138694.4(PKHD1):c.2532C>T (p.Tyr844=)
|
rs150202544
|
0.00017
|
NM_138694.4(PKHD1):c.4169G>A (p.Arg1390Gln)
|
rs139063552
|
0.00017
|
NM_138694.4(PKHD1):c.10684C>A (p.His3562Asn)
|
rs140419956
|
0.00016
|
NM_138694.4(PKHD1):c.10973T>C (p.Ile3658Thr)
|
rs142536551
|
0.00016
|
NM_138694.4(PKHD1):c.11476C>A (p.His3826Asn)
|
rs760056303
|
0.00016
|
NM_138694.4(PKHD1):c.4447G>A (p.Glu1483Lys)
|
rs146745096
|
0.00016
|
NM_138694.4(PKHD1):c.8951-19G>A
|
rs200025399
|
0.00016
|
NM_138694.4(PKHD1):c.9662C>T (p.Pro3221Leu)
|
rs145141656
|
0.00016
|
NM_138694.4(PKHD1):c.10888C>T (p.His3630Tyr)
|
rs145219220
|
0.00015
|
NM_138694.4(PKHD1):c.588G>A (p.Arg196=)
|
rs201773743
|
0.00015
|
NM_138694.4(PKHD1):c.5692A>G (p.Asn1898Asp)
|
rs756825030
|
0.00014
|
NM_138694.4(PKHD1):c.9241A>G (p.Ile3081Val)
|
rs142146981
|
0.00013
|
NM_138694.4(PKHD1):c.3904G>A (p.Val1302Ile)
|
rs141972092
|
0.00012
|
NM_138694.4(PKHD1):c.3839G>A (p.Arg1280His)
|
rs374233100
|
0.00011
|
NM_138694.4(PKHD1):c.6907A>T (p.Ile2303Phe)
|
rs751084512
|
0.00011
|
NM_138694.4(PKHD1):c.1018G>A (p.Gly340Arg)
|
rs368351830
|
0.00010
|
NM_138694.4(PKHD1):c.5895dup (p.Leu1966fs)
|
rs746838237
|
0.00010
|
NM_138694.4(PKHD1):c.6001G>A (p.Glu2001Lys)
|
rs200599637
|
0.00010
|
NM_138694.4(PKHD1):c.934C>T (p.Arg312Trp)
|
rs372340268
|
0.00010
|
NM_138694.4(PKHD1):c.10384A>G (p.Ile3462Val)
|
rs139742511
|
0.00009
|
NM_138694.4(PKHD1):c.11342C>T (p.Ser3781Leu)
|
rs780849635
|
0.00009
|
NM_138694.4(PKHD1):c.12087G>A (p.Gln4029=)
|
rs750130747
|
0.00009
|
NM_138694.4(PKHD1):c.1565C>T (p.Ser522Phe)
|
rs746561147
|
0.00009
|
NM_138694.4(PKHD1):c.1835A>G (p.His612Arg)
|
rs369932370
|
0.00009
|
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu)
|
rs201105958
|
0.00009
|
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val)
|
rs369925690
|
0.00008
|
NM_138694.4(PKHD1):c.3525C>T (p.Ser1175=)
|
rs751244001
|
0.00007
|
NM_138694.4(PKHD1):c.3526G>A (p.Val1176Ile)
|
rs565045703
|
0.00007
|
NM_138694.4(PKHD1):c.5989C>A (p.Arg1997=)
|
rs369801937
|
0.00007
|
NM_138694.4(PKHD1):c.8870T>C (p.Ile2957Thr)
|
rs760222236
|
0.00007
|
NM_138694.4(PKHD1):c.10252G>A (p.Ala3418Thr)
|
rs776589273
|
0.00006
|
NM_138694.4(PKHD1):c.10775A>G (p.Gln3592Arg)
|
rs761871204
|
0.00006
|
NM_138694.4(PKHD1):c.10940A>C (p.His3647Pro)
|
rs139442289
|
0.00006
|
NM_138694.4(PKHD1):c.11123T>C (p.Met3708Thr)
|
rs373896034
|
0.00006
|
NM_138694.4(PKHD1):c.11506+14G>C
|
rs371687822
|
0.00006
|
NM_138694.4(PKHD1):c.2232C>T (p.Thr744=)
|
rs1443176251
|
0.00006
|
NM_138694.4(PKHD1):c.6238A>G (p.Ser2080Gly)
|
rs528966196
|
0.00006
|
NM_138694.4(PKHD1):c.6779A>G (p.Tyr2260Cys)
|
rs374132086
|
0.00006
|
NM_138694.4(PKHD1):c.7567A>G (p.Ile2523Val)
|
rs146962673
|
0.00006
|
NM_138694.4(PKHD1):c.8319G>A (p.Val2773=)
|
rs374869252
|
0.00006
|
NM_138694.4(PKHD1):c.9270C>A (p.Asn3090Lys)
|
rs769571577
|
0.00006
|
NM_138694.4(PKHD1):c.1772C>G (p.Pro591Arg)
|
rs201824369
|
0.00005
|
NM_138694.4(PKHD1):c.217C>T (p.Arg73Trp)
|
rs567357782
|
0.00005
|
NM_138694.4(PKHD1):c.3183C>T (p.Val1061=)
|
rs759939735
|
0.00005
|
NM_138694.4(PKHD1):c.4265G>A (p.Arg1422Gln)
|
rs557773345
|
0.00005
|
NM_138694.4(PKHD1):c.49G>T (p.Ala17Ser)
|
rs149293970
|
0.00005
|
NM_138694.4(PKHD1):c.5687C>T (p.Thr1896Met)
|
rs140996978
|
0.00005
|
NM_138694.4(PKHD1):c.6565G>A (p.Val2189Ile)
|
rs142552070
|
0.00005
|
NM_138694.4(PKHD1):c.8813C>T (p.Thr2938Met)
|
rs776068047
|
0.00005
|
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr)
|
rs200511261
|
0.00005
|
NM_138694.4(PKHD1):c.9689del (p.Asp3230fs)
|
rs398124502
|
0.00005
|
NM_138694.4(PKHD1):c.977-20G>A
|
rs753880972
|
0.00005
|
NM_138694.4(PKHD1):c.10452T>G (p.Phe3484Leu)
|
rs545701882
|
0.00004
|
NM_138694.4(PKHD1):c.10666C>T (p.Arg3556Cys)
|
rs201534300
|
0.00004
|
NM_138694.4(PKHD1):c.10983G>A (p.Val3661=)
|
rs754613918
|
0.00004
|
NM_138694.4(PKHD1):c.1249A>G (p.Ile417Val)
|
rs781286941
|
0.00004
|
NM_138694.4(PKHD1):c.143G>A (p.Gly48Asp)
|
rs557361225
|
0.00004
|
NM_138694.4(PKHD1):c.1691G>A (p.Arg564Gln)
|
rs757182803
|
0.00004
|
NM_138694.4(PKHD1):c.1829A>G (p.Tyr610Cys)
|
rs199846197
|
0.00004
|
NM_138694.4(PKHD1):c.2330C>T (p.Thr777Met)
|
rs564240823
|
0.00004
|
NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter)
|
rs398124478
|
0.00004
|
NM_138694.4(PKHD1):c.2538C>T (p.His846=)
|
rs775356491
|
0.00004
|
NM_138694.4(PKHD1):c.2639G>A (p.Arg880His)
|
rs886042298
|
0.00004
|
NM_138694.4(PKHD1):c.2961G>T (p.Leu987Phe)
|
rs398124482
|
0.00004
|
NM_138694.4(PKHD1):c.3242G>A (p.Arg1081His)
|
rs201123815
|
0.00004
|
NM_138694.4(PKHD1):c.3433G>A (p.Val1145Ile)
|
rs147035447
|
0.00004
|
NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu)
|
rs367707903
|
0.00004
|
NM_138694.4(PKHD1):c.4105C>T (p.Arg1369Cys)
|
rs368974211
|
0.00004
|
NM_138694.4(PKHD1):c.434C>G (p.Pro145Arg)
|
rs146649894
|
0.00004
|
NM_138694.4(PKHD1):c.5958C>T (p.His1986=)
|
rs745388926
|
0.00004
|
NM_138694.4(PKHD1):c.630T>G (p.Leu210=)
|
rs950789431
|
0.00004
|
NM_138694.4(PKHD1):c.6557G>C (p.Arg2186Thr)
|
rs375436864
|
0.00004
|
NM_138694.4(PKHD1):c.6798G>A (p.Ala2266=)
|
rs747038764
|
0.00004
|
NM_138694.4(PKHD1):c.7469A>G (p.Asp2490Gly)
|
rs746000400
|
0.00004
|
NM_138694.4(PKHD1):c.8286C>T (p.Asp2762=)
|
rs749740610
|
0.00004
|
NM_138694.4(PKHD1):c.10136del (p.Thr3379fs)
|
rs765209037
|
0.00003
|
NM_138694.4(PKHD1):c.10583A>G (p.Asn3528Ser)
|
rs886061612
|
0.00003
|
NM_138694.4(PKHD1):c.10637del (p.Val3546fs)
|
rs770461067
|
0.00003
|
NM_138694.4(PKHD1):c.11611T>C (p.Trp3871Arg)
|
rs754626014
|
0.00003
|
NM_138694.4(PKHD1):c.11756C>T (p.Pro3919Leu)
|
rs775014599
|
0.00003
|
NM_138694.4(PKHD1):c.11883A>G (p.Arg3961=)
|
rs1165946143
|
0.00003
|
NM_138694.4(PKHD1):c.12188A>G (p.His4063Arg)
|
rs755769277
|
0.00003
|
NM_138694.4(PKHD1):c.1254C>T (p.Ser418=)
|
rs1252381398
|
0.00003
|
NM_138694.4(PKHD1):c.1288C>A (p.Gln430Lys)
|
rs727504094
|
0.00003
|
NM_138694.4(PKHD1):c.131-16C>T
|
rs1174461021
|
0.00003
|
NM_138694.4(PKHD1):c.1462C>T (p.Arg488Trp)
|
rs139770251
|
0.00003
|
NM_138694.4(PKHD1):c.1774C>T (p.Arg592Ter)
|
rs779050294
|
0.00003
|
NM_138694.4(PKHD1):c.1847C>G (p.Ala616Gly)
|
rs145855006
|
0.00003
|
NM_138694.4(PKHD1):c.2347C>T (p.Arg783Trp)
|
rs749170990
|
0.00003
|
NM_138694.4(PKHD1):c.2539G>A (p.Val847Met)
|
rs778864835
|
0.00003
|
NM_138694.4(PKHD1):c.3367G>A (p.Gly1123Ser)
|
rs142107837
|
0.00003
|
NM_138694.4(PKHD1):c.3468G>A (p.Ser1156=)
|
rs778487042
|
0.00003
|
NM_138694.4(PKHD1):c.353del (p.Ser118fs)
|
rs398124483
|
0.00003
|
NM_138694.4(PKHD1):c.3609T>C (p.Pro1203=)
|
rs758960742
|
0.00003
|
NM_138694.4(PKHD1):c.5414A>G (p.Glu1805Gly)
|
rs377674026
|
0.00003
|
NM_138694.4(PKHD1):c.55C>T (p.Arg19Cys)
|
rs767379405
|
0.00003
|
NM_138694.4(PKHD1):c.6352G>A (p.Glu2118Lys)
|
rs751529187
|
0.00003
|
NM_138694.4(PKHD1):c.6583G>A (p.Glu2195Lys)
|
rs151108325
|
0.00003
|
NM_138694.4(PKHD1):c.7361G>A (p.Cys2454Tyr)
|
rs747072396
|
0.00003
|
NM_138694.4(PKHD1):c.7430T>G (p.Phe2477Cys)
|
rs1366295189
|
0.00003
|
NM_138694.4(PKHD1):c.7726A>G (p.Ile2576Val)
|
rs565528098
|
0.00003
|
NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter)
|
rs181208607
|
0.00003
|
NM_138694.4(PKHD1):c.8898G>A (p.Arg2966=)
|
rs781630151
|
0.00003
|
NM_138694.4(PKHD1):c.10152C>T (p.Asn3384=)
|
rs774349380
|
0.00002
|
NM_138694.4(PKHD1):c.10174C>T (p.Gln3392Ter)
|
rs201082169
|
0.00002
|
NM_138694.4(PKHD1):c.10233G>C (p.Val3411=)
|
rs1162292670
|
0.00002
|
NM_138694.4(PKHD1):c.108G>A (p.Thr36=)
|
rs779123303
|
0.00002
|
NM_138694.4(PKHD1):c.12117G>A (p.Lys4039=)
|
rs1268794606
|
0.00002
|
NM_138694.4(PKHD1):c.2244G>A (p.Ala748=)
|
rs886043022
|
0.00002
|
NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala)
|
rs199568593
|
0.00002
|
NM_138694.4(PKHD1):c.2550G>A (p.Leu850=)
|
rs140920157
|
0.00002
|
NM_138694.4(PKHD1):c.2576T>G (p.Leu859Trp)
|
rs769143280
|
0.00002
|
NM_138694.4(PKHD1):c.2989A>G (p.Met997Val)
|
rs979700489
|
0.00002
|
NM_138694.4(PKHD1):c.3419A>T (p.Asp1140Val)
|
rs774570785
|
0.00002
|
NM_138694.4(PKHD1):c.3629-16C>T
|
rs776260404
|
0.00002
|
NM_138694.4(PKHD1):c.3817G>C (p.Ala1273Pro)
|
rs199643308
|
0.00002
|
NM_138694.4(PKHD1):c.3890C>T (p.Ala1297Val)
|
rs747436583
|
0.00002
|
NM_138694.4(PKHD1):c.390+1G>T
|
rs752327566
|
0.00002
|
NM_138694.4(PKHD1):c.5513A>G (p.Tyr1838Cys)
|
rs777999875
|
0.00002
|
NM_138694.4(PKHD1):c.5830G>A (p.Asp1944Asn)
|
rs774290802
|
0.00002
|
NM_138694.4(PKHD1):c.6797C>T (p.Ala2266Val)
|
rs755286726
|
0.00002
|
NM_138694.4(PKHD1):c.6996+5G>A
|
rs1232218253
|
0.00002
|
NM_138694.4(PKHD1):c.7912T>A (p.Tyr2638Asn)
|
rs749431123
|
0.00002
|
NM_138694.4(PKHD1):c.7914C>T (p.Tyr2638=)
|
rs753436694
|
0.00002
|
NM_138694.4(PKHD1):c.8156T>C (p.Met2719Thr)
|
rs368696503
|
0.00002
|
NM_138694.4(PKHD1):c.8356A>G (p.Met2786Val)
|
rs762313489
|
0.00002
|
NM_138694.4(PKHD1):c.8776C>T (p.Arg2926Trp)
|
rs757650951
|
0.00002
|
NM_138694.4(PKHD1):c.8887G>A (p.Val2963Ile)
|
rs749794881
|
0.00002
|
NM_138694.4(PKHD1):c.9075C>T (p.Gly3025=)
|
rs200466480
|
0.00002
|
NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter)
|
rs781368899
|
0.00001
|
NM_138694.4(PKHD1):c.10311T>C (p.Phe3437=)
|
rs375770253
|
0.00001
|
NM_138694.4(PKHD1):c.10545T>C (p.Ile3515=)
|
rs562160590
|
0.00001
|
NM_138694.4(PKHD1):c.10556T>C (p.Leu3519Pro)
|
rs769773637
|
0.00001
|
NM_138694.4(PKHD1):c.11000G>C (p.Gly3667Ala)
|
rs201692162
|
0.00001
|
NM_138694.4(PKHD1):c.11104C>T (p.Leu3702=)
|
rs758082610
|
0.00001
|
NM_138694.4(PKHD1):c.11210A>G (p.Tyr3737Cys)
|
rs1206336265
|
0.00001
|
NM_138694.4(PKHD1):c.11279T>G (p.Val3760Gly)
|
rs886061610
|
0.00001
|
NM_138694.4(PKHD1):c.11314C>T (p.Arg3772Ter)
|
rs199839578
|
0.00001
|
NM_138694.4(PKHD1):c.12088C>A (p.Gln4030Lys)
|
rs531466080
|
0.00001
|
NM_138694.4(PKHD1):c.12163G>A (p.Gly4055Arg)
|
rs778545068
|
0.00001
|
NM_138694.4(PKHD1):c.12165G>A (p.Gly4055=)
|
rs757125119
|
0.00001
|
NM_138694.4(PKHD1):c.1480C>T (p.Arg494Ter)
|
rs754392766
|
0.00001
|
NM_138694.4(PKHD1):c.1690C>T (p.Arg564Ter)
|
rs765251347
|
0.00001
|
NM_138694.4(PKHD1):c.1917A>T (p.Val639=)
|
rs1192699542
|
0.00001
|
NM_138694.4(PKHD1):c.193G>A (p.Val65Met)
|
rs749853418
|
0.00001
|
NM_138694.4(PKHD1):c.1A>G (p.Met1Val)
|
rs376987651
|
0.00001
|
NM_138694.4(PKHD1):c.2034G>A (p.Pro678=)
|
rs769144028
|
0.00001
|
NM_138694.4(PKHD1):c.2090C>T (p.Thr697Met)
|
rs377415956
|
0.00001
|
NM_138694.4(PKHD1):c.210C>T (p.Pro70=)
|
rs372103359
|
0.00001
|
NM_138694.4(PKHD1):c.2180A>G (p.Asn727Ser)
|
rs727504090
|
0.00001
|
NM_138694.4(PKHD1):c.2280-4A>T
|
rs549804372
|
0.00001
|
NM_138694.4(PKHD1):c.2344C>T (p.Gln782Ter)
|
rs371928571
|
0.00001
|
NM_138694.4(PKHD1):c.2518C>G (p.Leu840Val)
|
rs546401927
|
0.00001
|
NM_138694.4(PKHD1):c.2593-10A>G
|
rs1050450962
|
0.00001
|
NM_138694.4(PKHD1):c.2638C>T (p.Arg880Cys)
|
rs752646435
|
0.00001
|
NM_138694.4(PKHD1):c.2725C>T (p.Arg909Ter)
|
rs727504089
|
0.00001
|
NM_138694.4(PKHD1):c.2811G>A (p.Trp937Ter)
|
rs1344820986
|
0.00001
|
NM_138694.4(PKHD1):c.2906C>T (p.Thr969Met)
|
rs530600526
|
0.00001
|
NM_138694.4(PKHD1):c.3073G>C (p.Glu1025Gln)
|
rs899785229
|
0.00001
|
NM_138694.4(PKHD1):c.3148A>G (p.Ile1050Val)
|
rs727504088
|
0.00001
|
NM_138694.4(PKHD1):c.3229-7T>G
|
rs780401384
|
0.00001
|
NM_138694.4(PKHD1):c.3463C>T (p.Gln1155Ter)
|
rs1554200780
|
0.00001
|
NM_138694.4(PKHD1):c.3536A>G (p.Asn1179Ser)
|
rs747233443
|
0.00001
|
NM_138694.4(PKHD1):c.371G>A (p.Arg124Gln)
|
rs764940559
|
0.00001
|
NM_138694.4(PKHD1):c.3735G>A (p.Ala1245=)
|
rs150985194
|
0.00001
|
NM_138694.4(PKHD1):c.3779C>T (p.Ala1260Val)
|
rs112182862
|
0.00001
|
NM_138694.4(PKHD1):c.383del (p.Thr128fs)
|
rs868562051
|
0.00001
|
NM_138694.4(PKHD1):c.4204T>C (p.Cys1402Arg)
|
rs759930967
|
0.00001
|
NM_138694.4(PKHD1):c.4277C>T (p.Ser1426Leu)
|
rs771702541
|
0.00001
|
NM_138694.4(PKHD1):c.428A>G (p.Tyr143Cys)
|
rs141093030
|
0.00001
|
NM_138694.4(PKHD1):c.5271A>G (p.Gly1757=)
|
rs556583531
|
0.00001
|
NM_138694.4(PKHD1):c.53-1G>A
|
rs775511838
|
0.00001
|
NM_138694.4(PKHD1):c.5323C>T (p.Arg1775Ter)
|
rs770522674
|
0.00001
|
NM_138694.4(PKHD1):c.5511C>T (p.Leu1837=)
|
rs1241103975
|
0.00001
|
NM_138694.4(PKHD1):c.5541C>G (p.Leu1847=)
|
rs1355951747
|
0.00001
|
NM_138694.4(PKHD1):c.56G>A (p.Arg19His)
|
rs1375765328
|
0.00001
|
NM_138694.4(PKHD1):c.5767C>T (p.Gln1923Ter)
|
rs1313206550
|
0.00001
|
NM_138694.4(PKHD1):c.5835C>T (p.Asn1945=)
|
rs1167596697
|
0.00001
|
NM_138694.4(PKHD1):c.603-2A>G
|
rs757521428
|
0.00001
|
NM_138694.4(PKHD1):c.6143T>C (p.Val2048Ala)
|
rs1283289447
|
0.00001
|
NM_138694.4(PKHD1):c.6499C>A (p.Gln2167Lys)
|
rs368263958
|
0.00001
|
NM_138694.4(PKHD1):c.657C>T (p.Gly219=)
|
rs189345248
|
0.00001
|
NM_138694.4(PKHD1):c.6634G>A (p.Ala2212Thr)
|
rs1376315113
|
0.00001
|
NM_138694.4(PKHD1):c.6771T>C (p.Asn2257=)
|
rs1315333212
|
0.00001
|
NM_138694.4(PKHD1):c.707+1G>A
|
rs748365248
|
0.00001
|
NM_138694.4(PKHD1):c.7090A>G (p.Ile2364Val)
|
rs748865599
|
0.00001
|
NM_138694.4(PKHD1):c.7350+653A>G
|
rs1240212722
|
0.00001
|
NM_138694.4(PKHD1):c.7377T>G (p.Ile2459Met)
|
rs201173272
|
0.00001
|
NM_138694.4(PKHD1):c.739A>G (p.Ser247Gly)
|
rs747117144
|
0.00001
|
NM_138694.4(PKHD1):c.7438A>T (p.Ile2480Phe)
|
rs202008567
|
0.00001
|
NM_138694.4(PKHD1):c.7539A>G (p.Leu2513=)
|
rs746499996
|
0.00001
|
NM_138694.4(PKHD1):c.7976C>T (p.Pro2659Leu)
|
rs776654447
|
0.00001
|
NM_138694.4(PKHD1):c.8012G>A (p.Arg2671Gln)
|
rs778592523
|
0.00001
|
NM_138694.4(PKHD1):c.8068T>C (p.Trp2690Arg)
|
rs886061616
|
0.00001
|
NM_138694.4(PKHD1):c.8080A>G (p.Ser2694Gly)
|
rs775472136
|
0.00001
|
NM_138694.4(PKHD1):c.8084A>G (p.Gln2695Arg)
|
rs1185197350
|
0.00001
|
NM_138694.4(PKHD1):c.8140C>T (p.Arg2714Trp)
|
rs754533251
|
0.00001
|
NM_138694.4(PKHD1):c.8206T>G (p.Trp2736Gly)
|
rs764880309
|
0.00001
|
NM_138694.4(PKHD1):c.8292C>T (p.Leu2764=)
|
rs756431455
|
0.00001
|
NM_138694.4(PKHD1):c.8317G>T (p.Val2773Leu)
|
rs747322128
|
0.00001
|
NM_138694.4(PKHD1):c.8382C>G (p.Asp2794Glu)
|
rs746096431
|
0.00001
|
NM_138694.4(PKHD1):c.8555-2A>C
|
rs1020621286
|
0.00001
|
NM_138694.4(PKHD1):c.8629del (p.Ser2877fs)
|
rs779168950
|
0.00001
|
NM_138694.4(PKHD1):c.875T>C (p.Ile292Thr)
|
rs193185189
|
0.00001
|
NM_138694.4(PKHD1):c.8802T>C (p.Ser2934=)
|
rs1418482955
|
0.00001
|
NM_138694.4(PKHD1):c.8830A>G (p.Ile2944Val)
|
rs773010322
|
0.00001
|
NM_138694.4(PKHD1):c.9106G>T (p.Val3036Leu)
|
rs141912421
|
0.00001
|
NM_138694.4(PKHD1):c.9216G>A (p.Ala3072=)
|
rs764734730
|
0.00001
|
NM_138694.4(PKHD1):c.977G>T (p.Gly326Val)
|
rs778329699
|
0.00001
|
NM_138694.4(PKHD1):c.10031T>G (p.Leu3344Ter)
|
rs398124475
|
|
NM_138694.4(PKHD1):c.10086_10087delinsC (p.Gly3363fs)
|
rs1554216538
|
|
NM_138694.4(PKHD1):c.10105T>C (p.Ser3369Pro)
|
rs2150962340
|
|
NM_138694.4(PKHD1):c.10150A>C (p.Asn3384His)
|
rs752841263
|
|
NM_138694.4(PKHD1):c.10452dup (p.Leu3485fs)
|
rs771623148
|
|
NM_138694.4(PKHD1):c.10463A>G (p.Asn3488Ser)
|
rs1581894231
|
|
NM_138694.4(PKHD1):c.10481T>C (p.Leu3494Pro)
|
rs1554183514
|
|
NM_138694.4(PKHD1):c.10620T>C (p.Asp3540=)
|
rs2150414839
|
|
NM_138694.4(PKHD1):c.10744G>T (p.Glu3582Ter)
|
rs148300854
|
|
NM_138694.4(PKHD1):c.10859_10860del (p.Arg3620fs)
|
rs1562040783
|
|
NM_138694.4(PKHD1):c.1088G>A (p.Gly363Glu)
|
rs573293029
|
|
NM_138694.4(PKHD1):c.11378C>T (p.Ala3793Val)
|
rs1299129734
|
|
NM_138694.4(PKHD1):c.11533C>T (p.Pro3845Ser)
|
rs548244367
|
|
NM_138694.4(PKHD1):c.11747C>G (p.Ser3916Ter)
|
rs760426769
|
|
NM_138694.4(PKHD1):c.11811C>G (p.Gly3937=)
|
rs779069598
|
|
NM_138694.4(PKHD1):c.11925C>T (p.Ile3975=)
|
rs2150241037
|
|
NM_138694.4(PKHD1):c.1386C>T (p.Ala462=)
|
rs1393535530
|
|
NM_138694.4(PKHD1):c.1397G>A (p.Gly466Glu)
|
rs750730042
|
|
NM_138694.4(PKHD1):c.1478TCCGAG[3] (p.Val495_Arg496dup)
|
rs1554217514
|
|
NM_138694.4(PKHD1):c.1603-14_1603-13del
|
rs748577508
|
|
NM_138694.4(PKHD1):c.1854del (p.Gly619fs)
|
rs1807328785
|
|
NM_138694.4(PKHD1):c.1992G>A (p.Trp664Ter)
|
rs2128203862
|
|
NM_138694.4(PKHD1):c.2134G>C (p.Val712Leu)
|
rs144455663
|
|
NM_138694.4(PKHD1):c.2217G>A (p.Pro739=)
|
rs373367366
|
|
NM_138694.4(PKHD1):c.2264C>T (p.Pro755Leu)
|
rs1057517158
|
|
NM_138694.4(PKHD1):c.2269A>G (p.Ile757Val)
|
rs777183511
|
|
NM_138694.4(PKHD1):c.2299_2306delinsTCTG (p.Thr767fs)
|
rs1064796287
|
|
NM_138694.4(PKHD1):c.2452C>T (p.Gln818Ter)
|
rs398124480
|
|
NM_138694.4(PKHD1):c.2592+1G>C
|
rs758812102
|
|
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp)
|
rs370277502
|
|
NM_138694.4(PKHD1):c.2934G>A (p.Gln978=)
|
rs536715802
|
|
NM_138694.4(PKHD1):c.2946del (p.Cys983fs)
|
rs1581910835
|
|
NM_138694.4(PKHD1):c.2971G>A (p.Gly991Arg)
|
rs794727447
|
|
NM_138694.4(PKHD1):c.3118C>T (p.Arg1040Ter)
|
rs755183117
|
|
NM_138694.4(PKHD1):c.3229-2A>C
|
rs1057516872
|
|
NM_138694.4(PKHD1):c.3518del (p.Arg1173fs)
|
rs2128152615
|
|
NM_138694.4(PKHD1):c.3694_3725del (p.Val1232fs)
|
rs1057516762
|
|
NM_138694.4(PKHD1):c.3734C>A (p.Ala1245Glu)
|
rs140815495
|
|
NM_138694.4(PKHD1):c.3761_3762delinsG (p.Ala1254fs)
|
rs398124484
|
|
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs)
|
rs746972457
|
|
NM_138694.4(PKHD1):c.3940del (p.Ser1314fs)
|
rs1057517273
|
|
NM_138694.4(PKHD1):c.4005del (p.Cys1336fs)
|
rs1802073525
|
|
NM_138694.4(PKHD1):c.4118dup (p.Met1373fs)
|
rs752305132
|
|
NM_138694.4(PKHD1):c.4191G>A (p.Ser1397=)
|
rs756553815
|
|
NM_138694.4(PKHD1):c.4273C>T (p.Leu1425Phe)
|
rs565836750
|
|
NM_138694.4(PKHD1):c.4415delinsTATTCCCC (p.Cys1472fs)
|
rs398124486
|
|
NM_138694.4(PKHD1):c.4454G>A (p.Ser1485Asn)
|
rs370608473
|
|
NM_138694.4(PKHD1):c.449-15TTC[2]
|
rs545812620
|
|
NM_138694.4(PKHD1):c.4492_4494delinsAG (p.Ser1498_Leu1499insTer)
|
rs1581806935
|
|
NM_138694.4(PKHD1):c.488G>T (p.Arg163Ile)
|
rs932913425
|
|
NM_138694.4(PKHD1):c.528-9del
|
rs753686281
|
|
NM_138694.4(PKHD1):c.5365G>C (p.Val1789Leu)
|
rs1288521396
|
|
NM_138694.4(PKHD1):c.5370G>T (p.Leu1790=)
|
rs758616921
|
|
NM_138694.4(PKHD1):c.547C>T (p.Gln183Ter)
|
rs2128231908
|
|
NM_138694.4(PKHD1):c.5503C>T (p.Pro1835Ser)
|
rs1562140504
|
|
NM_138694.4(PKHD1):c.5751+1G>A
|
rs775638588
|
|
NM_138694.4(PKHD1):c.5751G>A (p.Gln1917=)
|
rs398124489
|
|
NM_138694.4(PKHD1):c.5776C>T (p.Arg1926Trp)
|
rs543037335
|
|
NM_138694.4(PKHD1):c.5786C>T (p.Ser1929Phe)
|
rs1791759592
|
|
NM_138694.4(PKHD1):c.5825A>G (p.Asp1942Gly)
|
rs1210846081
|
|
NM_138694.4(PKHD1):c.5879_5880del (p.Thr1960fs)
|
rs771180444
|
|
NM_138694.4(PKHD1):c.5935G>A (p.Gly1979Arg)
|
rs1583446897
|
|
NM_138694.4(PKHD1):c.6104del (p.Gly2035fs)
|
rs2127768101
|
|
NM_138694.4(PKHD1):c.6333-13dup
|
rs138161138
|
|
NM_138694.4(PKHD1):c.6333-8_6333-7del
|
rs138161138
|
|
NM_138694.4(PKHD1):c.6383T>G (p.Leu2128Ter)
|
rs1783006864
|
|
NM_138694.4(PKHD1):c.6754C>T (p.Leu2252=)
|
rs900150542
|
|
NM_138694.4(PKHD1):c.6809-2A>G
|
rs1340926191
|
|
NM_138694.4(PKHD1):c.6866-4_6866-2del
|
rs748114217
|
|
NM_138694.4(PKHD1):c.6924C>G (p.Ala2308=)
|
rs373795139
|
|
NM_138694.4(PKHD1):c.7264T>C (p.Cys2422Arg)
|
rs201881567
|
|
NM_138694.4(PKHD1):c.7301C>T (p.Ala2434Val)
|
rs753450358
|
|
NM_138694.4(PKHD1):c.7350+1G>T
|
rs1057516588
|
|
NM_138694.4(PKHD1):c.7514T>A (p.Leu2505Ter)
|
rs769645972
|
|
NM_138694.4(PKHD1):c.7719dup (p.Met2574fs)
|
rs797044745
|
|
NM_138694.4(PKHD1):c.7734-27_7734-26dup
|
rs201176305
|
|
NM_138694.4(PKHD1):c.7750G>A (p.Val2584Ile)
|
rs748895723
|
|
NM_138694.4(PKHD1):c.810C>A (p.Ser270Arg)
|
rs754448530
|
|
NM_138694.4(PKHD1):c.8151del (p.Gly2718fs)
|
rs1769233531
|
|
NM_138694.4(PKHD1):c.8208G>A (p.Trp2736Ter)
|
rs2151512054
|
|
NM_138694.4(PKHD1):c.8239G>T (p.Glu2747Ter)
|
rs794727756
|
|
NM_138694.4(PKHD1):c.8243_8244delinsCT (p.Gly2748Ala)
|
rs1562410143
|
|
NM_138694.4(PKHD1):c.8351A>G (p.Tyr2784Cys)
|
rs1793710520
|
|
NM_138694.4(PKHD1):c.8518C>G (p.Arg2840Gly)
|
rs200432861
|
|
NM_138694.4(PKHD1):c.8673C>T (p.Arg2891=)
|
rs116098879
|
|
NM_138694.4(PKHD1):c.8683A>G (p.Lys2895Glu)
|
rs1786704837
|
|
NM_138694.4(PKHD1):c.8837T>C (p.Leu2946Ser)
|
rs1582469785
|
|
NM_138694.4(PKHD1):c.8950+1G>T
|
rs1351918391
|
|
NM_138694.4(PKHD1):c.9095C>A (p.Ala3032Asp)
|
rs1444969670
|
|
NM_138694.4(PKHD1):c.930del (p.Thr311fs)
|
rs398124501
|
|
NM_138694.4(PKHD1):c.954del (p.Arg319fs)
|
rs1809305398
|
|
NM_138694.4(PKHD1):c.9719G>A (p.Arg3240Gln)
|
rs146649803
|
|
NM_138694.4(PKHD1):c.9830-2A>G
|
rs890681861
|
|
NM_138694.4(PKHD1):c.9868G>A (p.Asp3290Asn)
|
rs370659581
|
|
NM_138694.4(PKHD1):c.9901G>T (p.Glu3301Ter)
|
rs757099749
|
|
NM_138694.4(PKHD1):c.9923C>G (p.Pro3308Arg)
|
rs1307732644
|
|