NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys)
|
rs41273726
|
0.00885
|
NM_138694.4(PKHD1):c.8521A>G (p.Met2841Val)
|
rs113562492
|
0.00702
|
NM_138694.4(PKHD1):c.6245C>T (p.Thr2082Ile)
|
rs147487242
|
0.00646
|
NM_138694.4(PKHD1):c.4343A>G (p.Glu1448Gly)
|
rs116809571
|
0.00632
|
NM_138694.4(PKHD1):c.*2967T>A
|
rs41273714
|
0.00582
|
NM_138694.4(PKHD1):c.2279+13T>G
|
rs188914598
|
0.00572
|
NM_138694.4(PKHD1):c.6777C>T (p.Phe2259=)
|
rs140065359
|
0.00482
|
NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr)
|
rs45503297
|
0.00407
|
NM_138694.4(PKHD1):c.8581A>G (p.Ser2861Gly)
|
rs150925674
|
0.00340
|
NM_138694.4(PKHD1):c.2715+7del
|
rs551015414
|
0.00313
|
NM_138694.4(PKHD1):c.*232T>G
|
rs147372425
|
0.00294
|
NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile)
|
rs148932323
|
0.00287
|
NM_138694.4(PKHD1):c.9788T>C (p.Val3263Ala)
|
rs146519878
|
0.00261
|
NM_138694.4(PKHD1):c.*1005C>T
|
rs41273716
|
0.00230
|
NM_138694.4(PKHD1):c.2853C>T (p.Thr951=)
|
rs139815340
|
0.00230
|
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala)
|
rs147222255
|
0.00223
|
NM_138694.4(PKHD1):c.652G>A (p.Glu218Lys)
|
rs149522482
|
0.00198
|
NM_138694.4(PKHD1):c.8951-13C>T
|
rs112249812
|
0.00163
|
NM_138694.4(PKHD1):c.*1083G>T
|
rs376414551
|
0.00146
|
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.7307C>T (p.Thr2436Ile)
|
rs147851214
|
0.00145
|
NM_138694.4(PKHD1):c.11338C>T (p.Pro3780Ser)
|
rs41273722
|
0.00140
|
NM_138694.4(PKHD1):c.*1597G>A
|
rs116233809
|
0.00137
|
NM_138694.4(PKHD1):c.3537T>C (p.Asn1179=)
|
rs141574387
|
0.00135
|
NM_138694.4(PKHD1):c.281+3A>G
|
rs79803080
|
0.00113
|
NM_138694.4(PKHD1):c.*308C>T
|
rs570760306
|
0.00112
|
NM_138694.4(PKHD1):c.3783C>T (p.Gly1261=)
|
rs138388301
|
0.00105
|
NM_138694.4(PKHD1):c.5478G>A (p.Ala1826=)
|
rs137925439
|
0.00102
|
NM_138694.4(PKHD1):c.275G>A (p.Arg92Gln)
|
rs145886657
|
0.00101
|
NM_138694.4(PKHD1):c.12027C>G (p.Tyr4009Ter)
|
rs143616240
|
0.00100
|
NM_138694.4(PKHD1):c.1307C>G (p.Thr436Ser)
|
rs146789444
|
0.00093
|
NM_138694.4(PKHD1):c.2255C>T (p.Thr752Met)
|
rs200654041
|
0.00087
|
NM_138694.4(PKHD1):c.10926G>A (p.Met3642Ile)
|
rs78518523
|
0.00076
|
NM_138694.4(PKHD1):c.7912-5T>G
|
rs371510537
|
0.00075
|
NM_138694.4(PKHD1):c.5752-9G>A
|
rs184441390
|
0.00074
|
NM_138694.4(PKHD1):c.9215C>T (p.Ala3072Val)
|
rs139306706
|
0.00073
|
NM_138694.4(PKHD1):c.1925C>T (p.Thr642Ile)
|
rs138968608
|
0.00070
|
NM_138694.4(PKHD1):c.7675G>C (p.Val2559Leu)
|
rs150046042
|
0.00070
|
NM_138694.4(PKHD1):c.9553G>A (p.Val3185Ile)
|
rs145651593
|
0.00066
|
NM_138694.4(PKHD1):c.1676G>A (p.Arg559Gln)
|
rs142896856
|
0.00061
|
NM_138694.4(PKHD1):c.2243C>T (p.Ala748Val)
|
rs141622697
|
0.00061
|
NM_138694.4(PKHD1):c.7744C>T (p.Pro2582Ser)
|
rs200204857
|
0.00061
|
NM_138694.4(PKHD1):c.3627G>A (p.Leu1209=)
|
rs182216709
|
0.00060
|
NM_138694.4(PKHD1):c.2194G>T (p.Val732Phe)
|
rs201432731
|
0.00058
|
NM_138694.4(PKHD1):c.11800G>A (p.Val3934Ile)
|
rs149111536
|
0.00057
|
NM_138694.4(PKHD1):c.5768A>T (p.Gln1923Leu)
|
rs150838488
|
0.00057
|
NM_138694.4(PKHD1):c.10210A>G (p.Ile3404Val)
|
rs147612089
|
0.00056
|
NM_138694.4(PKHD1):c.10859G>A (p.Arg3620His)
|
rs149163661
|
0.00054
|
NM_138694.4(PKHD1):c.3303A>G (p.Thr1101=)
|
rs148335285
|
0.00052
|
NM_138694.4(PKHD1):c.11507-11C>T
|
rs201478327
|
0.00050
|
NM_138694.4(PKHD1):c.10531G>A (p.Gly3511Arg)
|
rs112030234
|
0.00049
|
NM_138694.4(PKHD1):c.7067C>T (p.Pro2356Leu)
|
rs141360909
|
0.00044
|
NM_138694.4(PKHD1):c.6774A>C (p.Val2258=)
|
rs34796823
|
0.00041
|
NM_138694.4(PKHD1):c.*1450T>A
|
rs755494395
|
0.00040
|
NM_138694.4(PKHD1):c.129T>C (p.Asp43=)
|
rs201195801
|
0.00040
|
NM_138694.4(PKHD1):c.7911+19T>C
|
rs201017366
|
0.00040
|
NM_138694.4(PKHD1):c.12198C>T (p.His4066=)
|
rs147051900
|
0.00039
|
NM_138694.4(PKHD1):c.334G>A (p.Gly112Arg)
|
rs149841071
|
0.00039
|
NM_138694.4(PKHD1):c.7215+13G>T
|
rs562612275
|
0.00039
|
NM_138694.4(PKHD1):c.1234-9T>C
|
rs200707468
|
0.00038
|
NM_138694.4(PKHD1):c.9402G>A (p.Lys3134=)
|
rs143737660
|
0.00038
|
NM_138694.4(PKHD1):c.5381-12T>C
|
rs143682303
|
0.00037
|
NM_138694.4(PKHD1):c.9925A>G (p.Ile3309Val)
|
rs45627337
|
0.00036
|
NM_138694.4(PKHD1):c.325G>A (p.Ala109Thr)
|
rs143979330
|
0.00035
|
NM_138694.4(PKHD1):c.3838C>T (p.Arg1280Cys)
|
rs144042993
|
0.00035
|
NM_138694.4(PKHD1):c.5731C>T (p.Arg1911Cys)
|
rs149553146
|
0.00033
|
NM_138694.4(PKHD1):c.2825G>C (p.Gly942Ala)
|
rs142205860
|
0.00032
|
NM_138694.4(PKHD1):c.*1217G>A
|
rs886061605
|
0.00029
|
NM_138694.4(PKHD1):c.2168G>T (p.Arg723Leu)
|
rs150597050
|
0.00029
|
NM_138694.4(PKHD1):c.10909C>T (p.Arg3637Cys)
|
rs141349745
|
0.00025
|
NM_138694.4(PKHD1):c.130+9G>A
|
rs367608402
|
0.00025
|
NM_138694.4(PKHD1):c.9493G>A (p.Val3165Met)
|
rs199621305
|
0.00025
|
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg)
|
rs149798764
|
0.00024
|
NM_138694.4(PKHD1):c.1257C>T (p.Val419=)
|
rs374650666
|
0.00024
|
NM_138694.4(PKHD1):c.6216T>G (p.Pro2072=)
|
rs148817026
|
0.00024
|
NM_138694.4(PKHD1):c.3761C>G (p.Ala1254Gly)
|
rs148901752
|
0.00023
|
NM_138694.4(PKHD1):c.935G>A (p.Arg312Gln)
|
rs140781915
|
0.00023
|
NM_138694.4(PKHD1):c.12142C>T (p.Gln4048Ter)
|
rs201812542
|
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.9478C>T (p.His3160Tyr)
|
rs147351244
|
0.00022
|
NM_138694.4(PKHD1):c.8141G>A (p.Arg2714Gln)
|
rs371665285
|
0.00021
|
NM_138694.4(PKHD1):c.8554+3A>G
|
rs370312392
|
0.00021
|
NM_138694.4(PKHD1):c.3851C>T (p.Pro1284Leu)
|
rs139838478
|
0.00020
|
NM_138694.4(PKHD1):c.6121G>A (p.Gly2041Ser)
|
rs199589074
|
0.00020
|
NM_138694.4(PKHD1):c.*2922T>C
|
rs146856769
|
0.00019
|
NM_138694.4(PKHD1):c.1717G>T (p.Gly573Trp)
|
rs143867809
|
0.00019
|
NM_138694.4(PKHD1):c.7736C>T (p.Ala2579Val)
|
rs78361537
|
0.00019
|
NM_138694.4(PKHD1):c.3241C>T (p.Arg1081Cys)
|
rs200986136
|
0.00018
|
NM_138694.4(PKHD1):c.1765C>T (p.Arg589Cys)
|
rs137972270
|
0.00017
|
NM_138694.4(PKHD1):c.4169G>A (p.Arg1390Gln)
|
rs139063552
|
0.00017
|
NM_138694.4(PKHD1):c.7533A>G (p.Ser2511=)
|
rs200679577
|
0.00017
|
NM_138694.4(PKHD1):c.*1381G>C
|
rs573219087
|
0.00016
|
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.2006G>A (p.Arg669His)
|
rs200497761
|
0.00016
|
NM_138694.4(PKHD1):c.2781A>G (p.Gln927=)
|
rs200511208
|
0.00016
|
NM_138694.4(PKHD1):c.3048T>C (p.Asn1016=)
|
rs138989655
|
0.00016
|
NM_138694.4(PKHD1):c.4447G>A (p.Glu1483Lys)
|
rs146745096
|
0.00016
|
NM_138694.4(PKHD1):c.633G>A (p.Gly211=)
|
rs144025892
|
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.12110T>C (p.Leu4037Pro)
|
rs199900211
|
0.00015
|
NM_138694.4(PKHD1):c.658G>A (p.Asp220Asn)
|
rs199897497
|
0.00015
|
NM_138694.4(PKHD1):c.9262G>A (p.Asp3088Asn)
|
rs201066635
|
0.00015
|
NM_138694.4(PKHD1):c.*2976C>T
|
rs145040289
|
0.00014
|
NM_138694.4(PKHD1):c.1848A>T (p.Ala616=)
|
rs776570716
|
0.00014
|
NM_138694.4(PKHD1):c.5692A>G (p.Asn1898Asp)
|
rs756825030
|
0.00014
|
NM_138694.4(PKHD1):c.977-7C>G
|
rs1054774956
|
0.00014
|
NM_138694.4(PKHD1):c.9913A>G (p.Ile3305Val)
|
rs145745489
|
0.00014
|
NM_138694.4(PKHD1):c.*934G>T
|
rs558281379
|
0.00013
|
NM_138694.4(PKHD1):c.10619A>G (p.Asp3540Gly)
|
rs539832575
|
0.00013
|
NM_138694.4(PKHD1):c.10744G>A (p.Glu3582Lys)
|
rs148300854
|
0.00013
|
NM_138694.4(PKHD1):c.1201C>A (p.His401Asn)
|
rs192769565
|
0.00013
|
NM_138694.4(PKHD1):c.9241A>G (p.Ile3081Val)
|
rs142146981
|
0.00013
|
NM_138694.4(PKHD1):c.3804C>T (p.Ala1268=)
|
rs201769990
|
0.00012
|
NM_138694.4(PKHD1):c.3904G>A (p.Val1302Ile)
|
rs141972092
|
0.00012
|
NM_138694.4(PKHD1):c.5829C>T (p.Gly1943=)
|
rs376709130
|
0.00012
|
NM_138694.4(PKHD1):c.5910G>A (p.Gly1970=)
|
rs200730851
|
0.00012
|
NM_138694.4(PKHD1):c.7911+5C>A
|
rs199953233
|
0.00012
|
NM_138694.4(PKHD1):c.*3171A>G
|
rs149167096
|
0.00011
|
NM_138694.4(PKHD1):c.-214G>A
|
rs886061625
|
0.00011
|
NM_138694.4(PKHD1):c.10910G>A (p.Arg3637His)
|
rs371329493
|
0.00011
|
NM_138694.4(PKHD1):c.1974C>T (p.Phe658=)
|
rs199635188
|
0.00011
|
NM_138694.4(PKHD1):c.3839G>A (p.Arg1280His)
|
rs374233100
|
0.00011
|
NM_138694.4(PKHD1):c.4304G>C (p.Ser1435Thr)
|
rs138242579
|
0.00011
|
NM_138694.4(PKHD1):c.5266T>C (p.Phe1756Leu)
|
rs368467585
|
0.00011
|
NM_138694.4(PKHD1):c.7091T>A (p.Ile2364Asn)
|
rs76260483
|
0.00011
|
NM_138694.4(PKHD1):c.7221T>C (p.Phe2407=)
|
rs199559837
|
0.00011
|
NM_138694.4(PKHD1):c.8407T>C (p.Cys2803Arg)
|
rs398124495
|
0.00011
|
NM_138694.4(PKHD1):c.*3345T>A
|
rs530251992
|
0.00010
|
NM_138694.4(PKHD1):c.1018G>A (p.Gly340Arg)
|
rs368351830
|
0.00010
|
NM_138694.4(PKHD1):c.1694-10C>G
|
rs745911880
|
0.00010
|
NM_138694.4(PKHD1):c.1849T>C (p.Tyr617His)
|
rs141177165
|
0.00010
|
NM_138694.4(PKHD1):c.6001G>A (p.Glu2001Lys)
|
rs200599637
|
0.00010
|
NM_138694.4(PKHD1):c.6687T>C (p.Ser2229=)
|
rs148497044
|
0.00010
|
NM_138694.4(PKHD1):c.934C>T (p.Arg312Trp)
|
rs372340268
|
0.00010
|
NM_138694.4(PKHD1):c.*1244G>A
|
rs917933676
|
0.00009
|
NM_138694.4(PKHD1):c.10354A>G (p.Thr3452Ala)
|
rs562503637
|
0.00009
|
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.1565C>T (p.Ser522Phe)
|
rs746561147
|
0.00009
|
NM_138694.4(PKHD1):c.1835A>G (p.His612Arg)
|
rs369932370
|
0.00009
|
NM_138694.4(PKHD1):c.2162C>T (p.Thr721Met)
|
rs140608845
|
0.00009
|
NM_138694.4(PKHD1):c.2444A>G (p.Gln815Arg)
|
rs145789167
|
0.00009
|
NM_138694.4(PKHD1):c.282-3C>T
|
rs535210707
|
0.00009
|
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu)
|
rs201105958
|
0.00009
|
NM_138694.4(PKHD1):c.6924C>T (p.Ala2308=)
|
rs373795139
|
0.00009
|
NM_138694.4(PKHD1):c.7238G>A (p.Arg2413His)
|
rs772219802
|
0.00009
|
NM_138694.4(PKHD1):c.9345A>G (p.Glu3115=)
|
rs760710708
|
0.00009
|
NM_138694.4(PKHD1):c.9663G>A (p.Pro3221=)
|
rs371508721
|
0.00009
|
NM_138694.4(PKHD1):c.9714A>G (p.Gly3238=)
|
rs754654892
|
0.00009
|
NM_138694.4(PKHD1):c.1487G>A (p.Arg496Gln)
|
rs181391485
|
0.00008
|
NM_138694.4(PKHD1):c.4009G>A (p.Asp1337Asn)
|
rs373255125
|
0.00008
|
NM_138694.4(PKHD1):c.8519G>A (p.Arg2840His)
|
rs373643848
|
0.00008
|
NM_138694.4(PKHD1):c.*822G>A
|
rs974589280
|
0.00007
|
NM_138694.4(PKHD1):c.11007G>A (p.Ser3669=)
|
rs142855690
|
0.00007
|
NM_138694.4(PKHD1):c.11869C>T (p.Arg3957Cys)
|
rs146680689
|
0.00007
|
NM_138694.4(PKHD1):c.1576A>G (p.Ile526Val)
|
rs142608481
|
0.00007
|
NM_138694.4(PKHD1):c.3526G>A (p.Val1176Ile)
|
rs565045703
|
0.00007
|
NM_138694.4(PKHD1):c.3629-15G>A
|
rs375870003
|
0.00007
|
NM_138694.4(PKHD1):c.711A>T (p.Ser237=)
|
rs138184195
|
0.00007
|
NM_138694.4(PKHD1):c.8440+10G>C
|
rs376658460
|
0.00007
|
NM_138694.4(PKHD1):c.*1154A>G
|
rs548889112
|
0.00006
|
NM_138694.4(PKHD1):c.*220A>G
|
rs751649423
|
0.00006
|
NM_138694.4(PKHD1):c.*2443A>G
|
rs145917681
|
0.00006
|
NM_138694.4(PKHD1):c.*2716C>G
|
rs1311498221
|
0.00006
|
NM_138694.4(PKHD1):c.*3138G>A
|
rs894857837
|
0.00006
|
NM_138694.4(PKHD1):c.*918T>A
|
rs544051183
|
0.00006
|
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.12106C>T (p.Arg4036Trp)
|
rs201210830
|
0.00006
|
NM_138694.4(PKHD1):c.171A>G (p.Gln57=)
|
rs543640706
|
0.00006
|
NM_138694.4(PKHD1):c.1816C>T (p.Arg606Trp)
|
rs560133266
|
0.00006
|
NM_138694.4(PKHD1):c.1960G>A (p.Glu654Lys)
|
rs200918134
|
0.00006
|
NM_138694.4(PKHD1):c.2703C>T (p.Asn901=)
|
rs199768081
|
0.00006
|
NM_138694.4(PKHD1):c.3628+9C>A
|
rs552339299
|
0.00006
|
NM_138694.4(PKHD1):c.3891G>A (p.Ala1297=)
|
rs775529923
|
0.00006
|
NM_138694.4(PKHD1):c.4547C>T (p.Pro1516Leu)
|
rs200278368
|
0.00006
|
NM_138694.4(PKHD1):c.5772C>T (p.Phe1924=)
|
rs141473212
|
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.7163G>A (p.Gly2388Asp)
|
rs371830478
|
0.00006
|
NM_138694.4(PKHD1):c.7567A>G (p.Ile2523Val)
|
rs146962673
|
0.00006
|
NM_138694.4(PKHD1):c.7810C>T (p.Arg2604Cys)
|
rs201091083
|
0.00006
|
NM_138694.4(PKHD1):c.8319G>A (p.Val2773=)
|
rs374869252
|
0.00006
|
NM_138694.4(PKHD1):c.8335T>G (p.Phe2779Val)
|
rs144106341
|
0.00006
|
NM_138694.4(PKHD1):c.9270C>A (p.Asn3090Lys)
|
rs769571577
|
0.00006
|
NM_138694.4(PKHD1):c.9629C>G (p.Ser3210Cys)
|
rs141081295
|
0.00006
|
NM_138694.4(PKHD1):c.9665A>G (p.His3222Arg)
|
rs777989032
|
0.00006
|
NM_138694.4(PKHD1):c.11224G>A (p.Ala3742Thr)
|
rs557211301
|
0.00005
|
NM_138694.4(PKHD1):c.161A>G (p.Asn54Ser)
|
rs374566843
|
0.00005
|
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.3368G>A (p.Gly1123Asp)
|
rs148356158
|
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.5963T>C (p.Ile1988Thr)
|
rs770492164
|
0.00005
|
NM_138694.4(PKHD1):c.607C>T (p.Pro203Ser)
|
rs777994980
|
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.*1027G>A
|
rs960304347
|
0.00004
|
NM_138694.4(PKHD1):c.*2031A>G
|
rs886061597
|
0.00004
|
NM_138694.4(PKHD1):c.*780A>G
|
rs886061606
|
0.00004
|
NM_138694.4(PKHD1):c.10402A>G (p.Ile3468Val)
|
rs748863662
|
0.00004
|
NM_138694.4(PKHD1):c.10445G>A (p.Arg3482His)
|
rs143915416
|
0.00004
|
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.1249A>G (p.Ile417Val)
|
rs781286941
|
0.00004
|
NM_138694.4(PKHD1):c.143G>A (p.Gly48Asp)
|
rs557361225
|
0.00004
|
NM_138694.4(PKHD1):c.150T>G (p.Leu50=)
|
rs529214120
|
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.1893C>G (p.Phe631Leu)
|
rs886061620
|
0.00004
|
NM_138694.4(PKHD1):c.2079G>T (p.Leu693=)
|
rs746441159
|
0.00004
|
NM_138694.4(PKHD1):c.218G>A (p.Arg73Gln)
|
rs577541526
|
0.00004
|
NM_138694.4(PKHD1):c.2216C>T (p.Pro739Leu)
|
rs758352210
|
0.00004
|
NM_138694.4(PKHD1):c.2280-10C>T
|
rs749295454
|
0.00004
|
NM_138694.4(PKHD1):c.2330C>T (p.Thr777Met)
|
rs564240823
|
0.00004
|
NM_138694.4(PKHD1):c.2414C>T (p.Pro805Leu)
|
rs199531851
|
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.2981G>A (p.Arg994Gln)
|
rs753169961
|
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.3806T>C (p.Val1269Ala)
|
rs1398646157
|
0.00004
|
NM_138694.4(PKHD1):c.400G>A (p.Ala134Thr)
|
rs536456650
|
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.4363G>A (p.Ala1455Thr)
|
rs760665951
|
0.00004
|
NM_138694.4(PKHD1):c.4364C>A (p.Ala1455Asp)
|
rs775246362
|
0.00004
|
NM_138694.4(PKHD1):c.6557G>C (p.Arg2186Thr)
|
rs375436864
|
0.00004
|
NM_138694.4(PKHD1):c.6626T>C (p.Leu2209Ser)
|
rs757627773
|
0.00004
|
NM_138694.4(PKHD1):c.6900C>T (p.Asn2300=)
|
rs776060304
|
0.00004
|
NM_138694.4(PKHD1):c.7469A>G (p.Asp2490Gly)
|
rs746000400
|
0.00004
|
NM_138694.4(PKHD1):c.8173+12C>T
|
rs368093611
|
0.00004
|
NM_138694.4(PKHD1):c.8494G>T (p.Ala2832Ser)
|
rs779751632
|
0.00004
|
NM_138694.4(PKHD1):c.9076G>A (p.Gly3026Arg)
|
rs146550270
|
0.00004
|
NM_138694.4(PKHD1):c.*1257G>A
|
rs886061604
|
0.00003
|
NM_138694.4(PKHD1):c.*3444G>A
|
rs772732172
|
0.00003
|
NM_138694.4(PKHD1):c.10250G>A (p.Ser3417Asn)
|
rs778583323
|
0.00003
|
NM_138694.4(PKHD1):c.10583A>G (p.Asn3528Ser)
|
rs886061612
|
0.00003
|
NM_138694.4(PKHD1):c.10658T>C (p.Ile3553Thr)
|
rs137852948
|
0.00003
|
NM_138694.4(PKHD1):c.10924A>G (p.Met3642Val)
|
rs747283913
|
0.00003
|
NM_138694.4(PKHD1):c.11131G>A (p.Gly3711Arg)
|
rs767963628
|
0.00003
|
NM_138694.4(PKHD1):c.11507-8C>T
|
rs755710579
|
0.00003
|
NM_138694.4(PKHD1):c.11756C>T (p.Pro3919Leu)
|
rs775014599
|
0.00003
|
NM_138694.4(PKHD1):c.12038G>A (p.Gly4013Asp)
|
rs375680275
|
0.00003
|
NM_138694.4(PKHD1):c.12188A>G (p.His4063Arg)
|
rs755769277
|
0.00003
|
NM_138694.4(PKHD1):c.12200C>T (p.Pro4067Leu)
|
rs758871283
|
0.00003
|
NM_138694.4(PKHD1):c.1256T>C (p.Val419Ala)
|
rs144526315
|
0.00003
|
NM_138694.4(PKHD1):c.1288C>A (p.Gln430Lys)
|
rs727504094
|
0.00003
|
NM_138694.4(PKHD1):c.1462C>T (p.Arg488Trp)
|
rs139770251
|
0.00003
|
NM_138694.4(PKHD1):c.1847C>G (p.Ala616Gly)
|
rs145855006
|
0.00003
|
NM_138694.4(PKHD1):c.1913T>C (p.Met638Thr)
|
rs181546197
|
0.00003
|
NM_138694.4(PKHD1):c.2347C>T (p.Arg783Trp)
|
rs749170990
|
0.00003
|
NM_138694.4(PKHD1):c.2407+5A>G
|
rs767994974
|
0.00003
|
NM_138694.4(PKHD1):c.2539G>A (p.Val847Met)
|
rs778864835
|
0.00003
|
NM_138694.4(PKHD1):c.262G>C (p.Val88Leu)
|
rs374447352
|
0.00003
|
NM_138694.4(PKHD1):c.3137G>C (p.Gly1046Ala)
|
rs374106769
|
0.00003
|
NM_138694.4(PKHD1):c.3704G>A (p.Arg1235Gln)
|
rs567239866
|
0.00003
|
NM_138694.4(PKHD1):c.377G>A (p.Ser126Asn)
|
rs779094064
|
0.00003
|
NM_138694.4(PKHD1):c.3835G>A (p.Ala1279Thr)
|
rs201611688
|
0.00003
|
NM_138694.4(PKHD1):c.4418A>G (p.Gln1473Arg)
|
rs780740862
|
0.00003
|
NM_138694.4(PKHD1):c.5414A>G (p.Glu1805Gly)
|
rs377674026
|
0.00003
|
NM_138694.4(PKHD1):c.544G>A (p.Ala182Thr)
|
rs142346881
|
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.708-4G>A
|
rs748018742
|
0.00003
|
NM_138694.4(PKHD1):c.7192T>G (p.Trp2398Gly)
|
rs762553057
|
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.7575A>C (p.Glu2525Asp)
|
rs756456332
|
0.00003
|
NM_138694.4(PKHD1):c.7582G>A (p.Asp2528Asn)
|
rs142487082
|
0.00003
|
NM_138694.4(PKHD1):c.7726A>G (p.Ile2576Val)
|
rs565528098
|
0.00003
|
NM_138694.4(PKHD1):c.8410A>G (p.Met2804Val)
|
rs137909186
|
0.00003
|
NM_138694.4(PKHD1):c.874A>G (p.Ile292Val)
|
rs367590965
|
0.00003
|
NM_138694.4(PKHD1):c.9524A>G (p.Asn3175Ser)
|
rs1343246818
|
0.00003
|
NM_138694.4(PKHD1):c.*1001A>G
|
rs926038607
|
0.00002
|
NM_138694.4(PKHD1):c.*2580C>A
|
rs886061595
|
0.00002
|
NM_138694.4(PKHD1):c.*3323T>C
|
rs886061592
|
0.00002
|
NM_138694.4(PKHD1):c.-30A>G
|
rs767584874
|
0.00002
|
NM_138694.4(PKHD1):c.10155A>G (p.Ala3385=)
|
rs773270584
|
0.00002
|
NM_138694.4(PKHD1):c.10743C>T (p.Leu3581=)
|
rs770308751
|
0.00002
|
NM_138694.4(PKHD1):c.11237T>G (p.Leu3746Arg)
|
rs1320401077
|
0.00002
|
NM_138694.4(PKHD1):c.11539G>T (p.Ala3847Ser)
|
rs769135174
|
0.00002
|
NM_138694.4(PKHD1):c.11918C>T (p.Thr3973Ile)
|
rs773044015
|
0.00002
|
NM_138694.4(PKHD1):c.12155C>T (p.Ala4052Val)
|
rs528907395
|
0.00002
|
NM_138694.4(PKHD1):c.1218G>T (p.Glu406Asp)
|
rs748017071
|
0.00002
|
NM_138694.4(PKHD1):c.1240G>A (p.Val414Met)
|
rs1458077668
|
0.00002
|
NM_138694.4(PKHD1):c.2244G>A (p.Ala748=)
|
rs886043022
|
0.00002
|
NM_138694.4(PKHD1):c.2265G>A (p.Pro755=)
|
rs375603741
|
0.00002
|
NM_138694.4(PKHD1):c.2291C>T (p.Thr764Ile)
|
rs190315828
|
0.00002
|
NM_138694.4(PKHD1):c.2576T>G (p.Leu859Trp)
|
rs769143280
|
0.00002
|
NM_138694.4(PKHD1):c.2726G>A (p.Arg909Gln)
|
rs201753421
|
0.00002
|
NM_138694.4(PKHD1):c.2989A>G (p.Met997Val)
|
rs979700489
|
0.00002
|
NM_138694.4(PKHD1):c.3005C>T (p.Ser1002Phe)
|
rs760793047
|
0.00002
|
NM_138694.4(PKHD1):c.3419A>T (p.Asp1140Val)
|
rs774570785
|
0.00002
|
NM_138694.4(PKHD1):c.3643A>T (p.Ser1215Cys)
|
rs752105357
|
0.00002
|
NM_138694.4(PKHD1):c.3775G>A (p.Asp1259Asn)
|
rs894304918
|
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.4199C>T (p.Ser1400Leu)
|
rs191201723
|
0.00002
|
NM_138694.4(PKHD1):c.5301T>C (p.Ala1767=)
|
rs886061618
|
0.00002
|
NM_138694.4(PKHD1):c.5360G>T (p.Cys1787Phe)
|
rs367970695
|
0.00002
|
NM_138694.4(PKHD1):c.5830G>A (p.Asp1944Asn)
|
rs774290802
|
0.00002
|
NM_138694.4(PKHD1):c.6097A>G (p.Arg2033Gly)
|
rs369626030
|
0.00002
|
NM_138694.4(PKHD1):c.6380T>G (p.Ile2127Ser)
|
rs372932771
|
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.8036T>C (p.Leu2679Pro)
|
rs200129776
|
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.8425G>A (p.Gly2809Arg)
|
rs398124497
|
0.00002
|
NM_138694.4(PKHD1):c.8503G>A (p.Gly2835Arg)
|
rs771108371
|
0.00002
|
NM_138694.4(PKHD1):c.8554+5G>C
|
rs1402749750
|
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.9059T>C (p.Leu3020Pro)
|
rs757148837
|
0.00002
|
NM_138694.4(PKHD1):c.9107T>G (p.Val3036Gly)
|
rs893497345
|
0.00002
|
NM_138694.4(PKHD1):c.931A>G (p.Thr311Ala)
|
rs890884615
|
0.00002
|
NM_138694.4(PKHD1):c.*1376A>G
|
rs886061602
|
0.00001
|
NM_138694.4(PKHD1):c.*1789G>A
|
rs763964515
|
0.00001
|
NM_138694.4(PKHD1):c.*1933G>A
|
rs886061598
|
0.00001
|
NM_138694.4(PKHD1):c.*2304_*2305insA
|
rs886061596
|
0.00001
|
NM_138694.4(PKHD1):c.*27G>A
|
rs764352165
|
0.00001
|
NM_138694.4(PKHD1):c.*3030A>G
|
rs1277165962
|
0.00001
|
NM_138694.4(PKHD1):c.*3269C>A
|
rs886061593
|
0.00001
|
NM_138694.4(PKHD1):c.-223G>A
|
rs886061626
|
0.00001
|
NM_138694.4(PKHD1):c.10058T>G (p.Leu3353Arg)
|
rs777377414
|
0.00001
|
NM_138694.4(PKHD1):c.10129G>A (p.Glu3377Lys)
|
rs754382673
|
0.00001
|
NM_138694.4(PKHD1):c.10556T>C (p.Leu3519Pro)
|
rs769773637
|
0.00001
|
NM_138694.4(PKHD1):c.10655C>T (p.Pro3552Leu)
|
rs1002017976
|
0.00001
|
NM_138694.4(PKHD1):c.10858C>T (p.Arg3620Cys)
|
rs557405366
|
0.00001
|
NM_138694.4(PKHD1):c.11000G>C (p.Gly3667Ala)
|
rs201692162
|
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.11284C>A (p.Pro3762Thr)
|
rs1229349983
|
0.00001
|
NM_138694.4(PKHD1):c.11465G>A (p.Gly3822Glu)
|
rs906560282
|
0.00001
|
NM_138694.4(PKHD1):c.11478C>G (p.His3826Gln)
|
rs775097870
|
0.00001
|
NM_138694.4(PKHD1):c.11507-5C>T
|
rs886061609
|
0.00001
|
NM_138694.4(PKHD1):c.11572A>C (p.Thr3858Pro)
|
rs1180404523
|
0.00001
|
NM_138694.4(PKHD1):c.11630del (p.Leu3877fs)
|
rs747170980
|
0.00001
|
NM_138694.4(PKHD1):c.11716C>T (p.His3906Tyr)
|
rs371652243
|
0.00001
|
NM_138694.4(PKHD1):c.11740C>T (p.Arg3914Ter)
|
rs761704401
|
0.00001
|
NM_138694.4(PKHD1):c.11786-3C>A
|
rs746467881
|
0.00001
|
NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter)
|
rs144193508
|
0.00001
|
NM_138694.4(PKHD1):c.12076C>T (p.Gln4026Ter)
|
rs780097121
|
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.12225A>T (p.Ter4075Cys)
|
rs1347911533
|
0.00001
|
NM_138694.4(PKHD1):c.1403G>T (p.Arg468Met)
|
rs765645325
|
0.00001
|
NM_138694.4(PKHD1):c.1409G>T (p.Gly470Val)
|
rs776845008
|
0.00001
|
NM_138694.4(PKHD1):c.1594G>A (p.Ala532Thr)
|
rs367837640
|
0.00001
|
NM_138694.4(PKHD1):c.1693+10G>A
|
rs886061621
|
0.00001
|
NM_138694.4(PKHD1):c.1721A>T (p.Asp574Val)
|
rs767122237
|
0.00001
|
NM_138694.4(PKHD1):c.1748G>A (p.Cys583Tyr)
|
rs369292828
|
0.00001
|
NM_138694.4(PKHD1):c.1760G>T (p.Ser587Ile)
|
rs769095204
|
0.00001
|
NM_138694.4(PKHD1):c.192C>T (p.Asn64=)
|
rs148089143
|
0.00001
|
NM_138694.4(PKHD1):c.193G>A (p.Val65Met)
|
rs749853418
|
0.00001
|
NM_138694.4(PKHD1):c.2080G>T (p.Ala694Ser)
|
rs1161554442
|
0.00001
|
NM_138694.4(PKHD1):c.2090C>T (p.Thr697Met)
|
rs377415956
|
0.00001
|
NM_138694.4(PKHD1):c.2141-4C>G
|
rs1042054004
|
0.00001
|
NM_138694.4(PKHD1):c.2167C>T (p.Arg723Cys)
|
rs794727366
|
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.2377C>T (p.Arg793Cys)
|
rs779653146
|
0.00001
|
NM_138694.4(PKHD1):c.23T>C (p.Leu8Pro)
|
rs750588859
|
0.00001
|
NM_138694.4(PKHD1):c.2518C>G (p.Leu840Val)
|
rs546401927
|
0.00001
|
NM_138694.4(PKHD1):c.2592+6T>C
|
rs746058715
|
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.2695A>G (p.Thr899Ala)
|
rs922828020
|
0.00001
|
NM_138694.4(PKHD1):c.2697T>A (p.Thr899=)
|
rs1562217633
|
0.00001
|
NM_138694.4(PKHD1):c.2788A>G (p.Thr930Ala)
|
rs144387673
|
0.00001
|
NM_138694.4(PKHD1):c.2864T>G (p.Phe955Cys)
|
rs777158800
|
0.00001
|
NM_138694.4(PKHD1):c.2906C>T (p.Thr969Met)
|
rs530600526
|
0.00001
|
NM_138694.4(PKHD1):c.2936C>T (p.Thr979Ile)
|
rs747895516
|
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.31A>G (p.Ile11Val)
|
rs765389565
|
0.00001
|
NM_138694.4(PKHD1):c.3329T>C (p.Ile1110Thr)
|
rs772369540
|
0.00001
|
NM_138694.4(PKHD1):c.3338T>G (p.Leu1113Arg)
|
rs746070060
|
0.00001
|
NM_138694.4(PKHD1):c.3462A>G (p.Thr1154=)
|
rs758231968
|
0.00001
|
NM_138694.4(PKHD1):c.3536A>G (p.Asn1179Ser)
|
rs747233443
|
0.00001
|
NM_138694.4(PKHD1):c.3547A>G (p.Ile1183Val)
|
rs746874144
|
0.00001
|
NM_138694.4(PKHD1):c.3561-11A>G
|
rs774114631
|
0.00001
|
NM_138694.4(PKHD1):c.371G>A (p.Arg124Gln)
|
rs764940559
|
0.00001
|
NM_138694.4(PKHD1):c.3728C>A (p.Thr1243Lys)
|
rs774865280
|
0.00001
|
NM_138694.4(PKHD1):c.3747T>G (p.Cys1249Trp)
|
rs748540413
|
0.00001
|
NM_138694.4(PKHD1):c.3779C>T (p.Ala1260Val)
|
rs112182862
|
0.00001
|
NM_138694.4(PKHD1):c.3983T>C (p.Val1328Ala)
|
rs767017869
|
0.00001
|
NM_138694.4(PKHD1):c.4130A>C (p.Asn1377Thr)
|
rs773345692
|
0.00001
|
NM_138694.4(PKHD1):c.414C>T (p.Ile138=)
|
rs368595925
|
0.00001
|
NM_138694.4(PKHD1):c.4190C>T (p.Ser1397Leu)
|
rs778541098
|
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.4403T>C (p.Leu1468Pro)
|
rs140331370
|
0.00001
|
NM_138694.4(PKHD1):c.4513A>G (p.Arg1505Gly)
|
rs1271610315
|
0.00001
|
NM_138694.4(PKHD1):c.4529C>A (p.Ala1510Asp)
|
rs758834151
|
0.00001
|
NM_138694.4(PKHD1):c.470G>A (p.Gly157Asp)
|
rs1278235097
|
0.00001
|
NM_138694.4(PKHD1):c.494A>C (p.Glu165Ala)
|
rs1302500833
|
0.00001
|
NM_138694.4(PKHD1):c.5364G>C (p.Leu1788Phe)
|
rs780332791
|
0.00001
|
NM_138694.4(PKHD1):c.5556T>C (p.His1852=)
|
rs549418638
|
0.00001
|
NM_138694.4(PKHD1):c.5601-8C>T
|
rs578030952
|
0.00001
|
NM_138694.4(PKHD1):c.56G>A (p.Arg19His)
|
rs1375765328
|
0.00001
|
NM_138694.4(PKHD1):c.6054C>T (p.Tyr2018=)
|
rs774944622
|
0.00001
|
NM_138694.4(PKHD1):c.6142G>T (p.Val2048Phe)
|
rs767464186
|
0.00001
|
NM_138694.4(PKHD1):c.6143T>C (p.Val2048Ala)
|
rs1283289447
|
0.00001
|
NM_138694.4(PKHD1):c.6187G>A (p.Ala2063Thr)
|
rs772835579
|
0.00001
|
NM_138694.4(PKHD1):c.6280G>A (p.Val2094Ile)
|
rs1314635548
|
0.00001
|
NM_138694.4(PKHD1):c.6475G>A (p.Ala2159Thr)
|
rs750822014
|
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.6646C>T (p.His2216Tyr)
|
rs1459248210
|
0.00001
|
NM_138694.4(PKHD1):c.7024G>A (p.Gly2342Ser)
|
rs1554290169
|
0.00001
|
NM_138694.4(PKHD1):c.7090A>G (p.Ile2364Val)
|
rs748865599
|
0.00001
|
NM_138694.4(PKHD1):c.722A>G (p.Lys241Arg)
|
rs763591478
|
0.00001
|
NM_138694.4(PKHD1):c.7284C>T (p.Asp2428=)
|
rs200807210
|
0.00001
|
NM_138694.4(PKHD1):c.7292A>T (p.Glu2431Val)
|
rs1280884139
|
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.7414A>G (p.Thr2472Ala)
|
rs137972951
|
0.00001
|
NM_138694.4(PKHD1):c.7438A>T (p.Ile2480Phe)
|
rs202008567
|
0.00001
|
NM_138694.4(PKHD1):c.7600A>G (p.Lys2534Glu)
|
rs1392464284
|
0.00001
|
NM_138694.4(PKHD1):c.7619T>C (p.Leu2540Pro)
|
rs761681284
|
0.00001
|
NM_138694.4(PKHD1):c.7641A>G (p.Ser2547=)
|
rs771563591
|
0.00001
|
NM_138694.4(PKHD1):c.7715A>T (p.His2572Leu)
|
rs765237487
|
0.00001
|
NM_138694.4(PKHD1):c.7717C>T (p.Arg2573Cys)
|
rs752994816
|
0.00001
|
NM_138694.4(PKHD1):c.7733+15C>A
|
rs771759749
|
0.00001
|
NM_138694.4(PKHD1):c.7742C>T (p.Thr2581Ile)
|
rs1447744840
|
0.00001
|
NM_138694.4(PKHD1):c.7766C>A (p.Thr2589Asn)
|
rs1375719978
|
0.00001
|
NM_138694.4(PKHD1):c.7847T>C (p.Leu2616Pro)
|
rs772556933
|
0.00001
|
NM_138694.4(PKHD1):c.7940C>T (p.Pro2647Leu)
|
rs1448998543
|
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.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.8181C>G (p.Thr2727=)
|
rs759658629
|
0.00001
|
NM_138694.4(PKHD1):c.8206T>G (p.Trp2736Gly)
|
rs764880309
|
0.00001
|
NM_138694.4(PKHD1):c.8212C>G (p.Leu2738Val)
|
rs761723122
|
0.00001
|
NM_138694.4(PKHD1):c.8283T>A (p.Asp2761Glu)
|
rs1381302226
|
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.8390A>G (p.Asn2797Ser)
|
rs369941024
|
0.00001
|
NM_138694.4(PKHD1):c.8411T>A (p.Met2804Lys)
|
rs794727759
|
0.00001
|
NM_138694.4(PKHD1):c.8671C>T (p.Arg2891Cys)
|
rs148990124
|
0.00001
|
NM_138694.4(PKHD1):c.875T>C (p.Ile292Thr)
|
rs193185189
|
0.00001
|
NM_138694.4(PKHD1):c.8788C>T (p.Arg2930Trp)
|
rs752776137
|
0.00001
|
NM_138694.4(PKHD1):c.8825G>A (p.Arg2942Gln)
|
rs772538453
|
0.00001
|
NM_138694.4(PKHD1):c.8830A>G (p.Ile2944Val)
|
rs773010322
|
0.00001
|
NM_138694.4(PKHD1):c.8848G>A (p.Val2950Ile)
|
rs768138709
|
0.00001
|
NM_138694.4(PKHD1):c.8860A>G (p.Thr2954Ala)
|
rs1292890415
|
0.00001
|
NM_138694.4(PKHD1):c.8948C>T (p.Ser2983Leu)
|
rs141169758
|
0.00001
|
NM_138694.4(PKHD1):c.9106G>T (p.Val3036Leu)
|
rs141912421
|
0.00001
|
NM_138694.4(PKHD1):c.9152T>C (p.Ile3051Thr)
|
rs1374086784
|
0.00001
|
NM_138694.4(PKHD1):c.9283G>A (p.Val3095Ile)
|
rs768508521
|
0.00001
|
NM_138694.4(PKHD1):c.9619G>A (p.Ala3207Thr)
|
rs1242089464
|
0.00001
|
NM_138694.4(PKHD1):c.977G>T (p.Gly326Val)
|
rs778329699
|
0.00001
|
NC_000006.11:g.(?_51483879)_(51491934_?)dup
|
|
|
NC_000006.11:g.(?_51609163)_(51640739_?)dup
|
|
|
NM_138694.3(PKHD1):c.-276A>C
|
rs773740905
|
|
NM_138694.4(PKHD1):c.*1023G>A
|
rs185962129
|
|
NM_138694.4(PKHD1):c.*1130C>T
|
rs181120541
|
|
NM_138694.4(PKHD1):c.*1335T>C
|
rs886061603
|
|
NM_138694.4(PKHD1):c.*1492_*1497del
|
rs886061601
|
|
NM_138694.4(PKHD1):c.*1589T>G
|
rs886061600
|
|
NM_138694.4(PKHD1):c.*1592T>C
|
rs1288662627
|
|
NM_138694.4(PKHD1):c.*1596C>T
|
rs555042069
|
|
NM_138694.4(PKHD1):c.*1749C>T
|
rs886061599
|
|
NM_138694.4(PKHD1):c.*1T>C
|
rs369623770
|
|
NM_138694.4(PKHD1):c.*2463C>T
|
rs1766092325
|
|
NM_138694.4(PKHD1):c.*2552_*2553dup
|
rs113144792
|
|
NM_138694.4(PKHD1):c.*2553dup
|
rs113144792
|
|
NM_138694.4(PKHD1):c.*2665C>A
|
rs189302289
|
|
NM_138694.4(PKHD1):c.*2857A>C
|
rs886061594
|
|
NM_138694.4(PKHD1):c.*3379A>G
|
rs544667112
|
|
NM_138694.4(PKHD1):c.*3505AATT[1]
|
rs552076092
|
|
NM_138694.4(PKHD1):c.*3520T>C
|
rs886061591
|
|
NM_138694.4(PKHD1):c.*604C>A
|
rs41273720
|
|
NM_138694.4(PKHD1):c.*760T>G
|
rs886061607
|
|
NM_138694.4(PKHD1):c.-185A>G
|
rs1812958193
|
|
NM_138694.4(PKHD1):c.10002A>G (p.Lys3334=)
|
rs886061613
|
|
NM_138694.4(PKHD1):c.10073A>G (p.Asp3358Gly)
|
|
|
NM_138694.4(PKHD1):c.10075G>C (p.Gly3359Arg)
|
|
|
NM_138694.4(PKHD1):c.10091T>C (p.Leu3364Pro)
|
|
|
NM_138694.4(PKHD1):c.1009G>A (p.Ala337Thr)
|
|
|
NM_138694.4(PKHD1):c.100G>A (p.Gly34Arg)
|
rs2128244638
|
|
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.10151A>G (p.Asn3384Ser)
|
|
|
NM_138694.4(PKHD1):c.10160C>T (p.Thr3387Ile)
|
rs2150418782
|
|
NM_138694.4(PKHD1):c.10180T>G (p.Cys3394Gly)
|
|
|
NM_138694.4(PKHD1):c.10207T>C (p.Phe3403Leu)
|
|
|
NM_138694.4(PKHD1):c.10219C>G (p.Gln3407Glu)
|
rs781368899
|
|
NM_138694.4(PKHD1):c.10226A>G (p.Asp3409Gly)
|
|
|
NM_138694.4(PKHD1):c.10251C>A (p.Ser3417Arg)
|
|
|
NM_138694.4(PKHD1):c.10251C>T (p.Ser3417=)
|
rs372394177
|
|
NM_138694.4(PKHD1):c.10252G>C (p.Ala3418Pro)
|
rs776589273
|
|
NM_138694.4(PKHD1):c.10319T>A (p.Val3440Asp)
|
rs756792624
|
|
NM_138694.4(PKHD1):c.10326C>A (p.Ser3442Arg)
|
rs1581895338
|
|
NM_138694.4(PKHD1):c.10388T>C (p.Leu3463Ser)
|
rs1772516071
|
|
NM_138694.4(PKHD1):c.10414T>G (p.Cys3472Gly)
|
rs1772510920
|
|
NM_138694.4(PKHD1):c.10436A>G (p.Gln3479Arg)
|
|
|
NM_138694.4(PKHD1):c.10463A>G (p.Asn3488Ser)
|
rs1581894231
|
|
NM_138694.4(PKHD1):c.10469G>C (p.Ser3490Thr)
|
rs149486694
|
|
NM_138694.4(PKHD1):c.10471A>C (p.Thr3491Pro)
|
rs533977466
|
|
NM_138694.4(PKHD1):c.10475C>T (p.Ser3492Phe)
|
rs1772497198
|
|
NM_138694.4(PKHD1):c.10481T>C (p.Leu3494Pro)
|
rs1554183514
|
|
NM_138694.4(PKHD1):c.10505A>T (p.Glu3502Val)
|
rs1554183496
|
|
NM_138694.4(PKHD1):c.10522G>A (p.Val3508Ile)
|
|
|
NM_138694.4(PKHD1):c.10524CTT[1] (p.Phe3509del)
|
rs1345766794
|
|
NM_138694.4(PKHD1):c.10536A>G (p.Glu3512=)
|
rs1581893486
|
|
NM_138694.4(PKHD1):c.10571C>T (p.Ser3524Phe)
|
rs1554183437
|
|
NM_138694.4(PKHD1):c.10613T>A (p.Ile3538Asn)
|
rs2150414899
|
|
NM_138694.4(PKHD1):c.1063G>T (p.Val355Phe)
|
rs864622679
|
|
NM_138694.4(PKHD1):c.10640T>C (p.Leu3547Pro)
|
rs2150414704
|
|
NM_138694.4(PKHD1):c.10657A>G (p.Ile3553Val)
|
|
|
NM_138694.4(PKHD1):c.10688T>G (p.Leu3563Trp)
|
|
|
NM_138694.4(PKHD1):c.10717G>C (p.Glu3573Gln)
|
rs1772450315
|
|
NM_138694.4(PKHD1):c.10724G>T (p.Gly3575Val)
|
rs886061611
|
|
NM_138694.4(PKHD1):c.10798G>A (p.Glu3600Lys)
|
|
|
NM_138694.4(PKHD1):c.10831A>C (p.Ile3611Leu)
|
rs1298906012
|
|
NM_138694.4(PKHD1):c.10837G>A (p.Asp3613Asn)
|
|
|
NM_138694.4(PKHD1):c.10844G>A (p.Arg3615Lys)
|
|
|
NM_138694.4(PKHD1):c.1085T>G (p.Phe362Cys)
|
rs752514286
|
|
NM_138694.4(PKHD1):c.10870A>G (p.Thr3624Ala)
|
|
|
NM_138694.4(PKHD1):c.10883C>T (p.Thr3628Ile)
|
rs147700643
|
|
NM_138694.4(PKHD1):c.1088G>A (p.Gly363Glu)
|
rs573293029
|
|
NM_138694.4(PKHD1):c.10925T>C (p.Met3642Thr)
|
rs1554183164
|
|
NM_138694.4(PKHD1):c.10932G>T (p.Met3644Ile)
|
|
|
NM_138694.4(PKHD1):c.10957A>G (p.Met3653Val)
|
|
|
NM_138694.4(PKHD1):c.11006C>T (p.Ser3669Leu)
|
|
|
NM_138694.4(PKHD1):c.1102G>A (p.Glu368Lys)
|
|
|
NM_138694.4(PKHD1):c.11037A>T (p.Ser3679=)
|
rs1204544455
|
|
NM_138694.4(PKHD1):c.11044T>C (p.Ser3682Pro)
|
|
|
NM_138694.4(PKHD1):c.11075G>A (p.Arg3692Gln)
|
|
|
NM_138694.4(PKHD1):c.11078T>G (p.Val3693Gly)
|
|
|
NM_138694.4(PKHD1):c.11113G>A (p.Val3705Ile)
|
rs113697159
|
|
NM_138694.4(PKHD1):c.1116C>G (p.Phe372Leu)
|
rs1582038191
|
|
NM_138694.4(PKHD1):c.11178T>A (p.Asn3726Lys)
|
|
|
NM_138694.4(PKHD1):c.11218C>T (p.Pro3740Ser)
|
rs1554176504
|
|
NM_138694.4(PKHD1):c.11219C>T (p.Pro3740Leu)
|
rs2150367118
|
|
NM_138694.4(PKHD1):c.11237T>C (p.Leu3746Pro)
|
rs1320401077
|
|
NM_138694.4(PKHD1):c.11252A>T (p.Asp3751Val)
|
|
|
NM_138694.4(PKHD1):c.11255G>C (p.Gly3752Ala)
|
|
|
NM_138694.4(PKHD1):c.11307G>T (p.Glu3769Asp)
|
rs1489049173
|
|
NM_138694.4(PKHD1):c.11309A>G (p.Gln3770Arg)
|
rs1770520773
|
|
NM_138694.4(PKHD1):c.11310+3A>G
|
rs1271798139
|
|
NM_138694.4(PKHD1):c.11310G>C (p.Gln3770His)
|
|
|
NM_138694.4(PKHD1):c.11319A>T (p.Arg3773Ser)
|
|
|
NM_138694.4(PKHD1):c.1131T>G (p.Ser377Arg)
|
|
|
NM_138694.4(PKHD1):c.11347C>G (p.Pro3783Ala)
|
|
|
NM_138694.4(PKHD1):c.11378C>T (p.Ala3793Val)
|
rs1299129734
|
|
NM_138694.4(PKHD1):c.11383G>A (p.Asp3795Asn)
|
|
|
NM_138694.4(PKHD1):c.11387C>T (p.Ser3796Leu)
|
|
|
NM_138694.4(PKHD1):c.11399G>A (p.Gly3800Glu)
|
rs1554169587
|
|
NM_138694.4(PKHD1):c.11452G>T (p.Val3818Phe)
|
rs1385935333
|
|
NM_138694.4(PKHD1):c.1145C>T (p.Ala382Val)
|
|
|
NM_138694.4(PKHD1):c.11477A>G (p.His3826Arg)
|
rs1012338385
|
|
NM_138694.4(PKHD1):c.11483T>C (p.Ile3828Thr)
|
|
|
NM_138694.4(PKHD1):c.11507-10C>G
|
rs1768075438
|
|
NM_138694.4(PKHD1):c.11507-12del
|
rs771337119
|
|
NM_138694.4(PKHD1):c.11507-7G>A
|
rs373438297
|
|
NM_138694.4(PKHD1):c.11533C>A (p.Pro3845Thr)
|
|
|
NM_138694.4(PKHD1):c.11533C>T (p.Pro3845Ser)
|
rs548244367
|
|
NM_138694.4(PKHD1):c.11563_11565del (p.Glu3855del)
|
|
|
NM_138694.4(PKHD1):c.11668A>G (p.Thr3890Ala)
|
rs2150278411
|
|
NM_138694.4(PKHD1):c.1166C>T (p.Thr389Ile)
|
|
|
NM_138694.4(PKHD1):c.11768A>G (p.Asp3923Gly)
|
rs1561981487
|
|
NM_138694.4(PKHD1):c.11774_11775del (p.Val3925fs)
|
rs1554165849
|
|
NM_138694.4(PKHD1):c.11786-2del
|
rs1554163591
|
|
NM_138694.4(PKHD1):c.11828C>G (p.Pro3943Arg)
|
rs2150241950
|
|
NM_138694.4(PKHD1):c.11840T>C (p.Met3947Thr)
|
|
|
NM_138694.4(PKHD1):c.11863G>T (p.Val3955Phe)
|
rs769223833
|
|
NM_138694.4(PKHD1):c.11885A>G (p.Glu3962Gly)
|
rs886061608
|
|
NM_138694.4(PKHD1):c.11888A>T (p.Glu3963Val)
|
|
|
NM_138694.4(PKHD1):c.11896G>A (p.Ala3966Thr)
|
|
|
NM_138694.4(PKHD1):c.11899_11907del (p.Val3967_Ala3969del)
|
rs1457757188
|
|
NM_138694.4(PKHD1):c.11901G>A (p.Val3967=)
|
rs751385266
|
|
NM_138694.4(PKHD1):c.11920G>A (p.Gly3974Ser)
|
rs2150241066
|
|
NM_138694.4(PKHD1):c.11935G>A (p.Gly3979Arg)
|
rs2150240920
|
|
NM_138694.4(PKHD1):c.11937G>C (p.Gly3979=)
|
rs1766326928
|
|
NM_138694.4(PKHD1):c.11946T>A (p.Cys3982Ter)
|
|
|
NM_138694.4(PKHD1):c.11952_11954del (p.Gly3985del)
|
rs1329790948
|
|
NM_138694.4(PKHD1):c.11986_12003del (p.Thr3996_Glu4001del)
|
rs1554163379
|
|
NM_138694.4(PKHD1):c.12014A>C (p.Gln4005Pro)
|
|
|
NM_138694.4(PKHD1):c.12099del (p.Gln4034fs)
|
rs1554163298
|
|
NM_138694.4(PKHD1):c.12118C>T (p.Gln4040Ter)
|
rs1554163280
|
|
NM_138694.4(PKHD1):c.12120A>C (p.Gln4040His)
|
|
|
NM_138694.4(PKHD1):c.12142_12143inv (p.Gln4048Ter)
|
|
|
NM_138694.4(PKHD1):c.12162C>A (p.Cys4054Ter)
|
rs745888824
|
|
NM_138694.4(PKHD1):c.12166del (p.Ala4056fs)
|
rs1554163223
|
|
NM_138694.4(PKHD1):c.1231A>G (p.Lys411Glu)
|
|
|
NM_138694.4(PKHD1):c.1233+1G>A
|
rs886061623
|
|
NM_138694.4(PKHD1):c.1234-10T>C
|
rs4715272
|
|
NM_138694.4(PKHD1):c.1242_1250del (p.Ala415_Ile417del)
|
rs1554217913
|
|
NM_138694.4(PKHD1):c.1255G>A (p.Val419Ile)
|
rs138672830
|
|
NM_138694.4(PKHD1):c.1258G>A (p.Gly420Ser)
|
|
|
NM_138694.4(PKHD1):c.1258G>C (p.Gly420Arg)
|
rs140458350
|
|
NM_138694.4(PKHD1):c.1303G>C (p.Gly435Arg)
|
rs763244593
|
|
NM_138694.4(PKHD1):c.1353G>A (p.Met451Ile)
|
rs886061622
|
|
NM_138694.4(PKHD1):c.1397G>C (p.Gly466Ala)
|
rs750730042
|
|
NM_138694.4(PKHD1):c.1403G>A (p.Arg468Lys)
|
rs765645325
|
|
NM_138694.4(PKHD1):c.1463G>C (p.Arg488Pro)
|
rs186202437
|
|
NM_138694.4(PKHD1):c.1478TCCGAG[3] (p.Val495_Arg496dup)
|
rs1554217514
|
|
NM_138694.4(PKHD1):c.1555G>A (p.Asp519Asn)
|
|
|
NM_138694.4(PKHD1):c.158A>G (p.Asn53Ser)
|
rs141790557
|
|
NM_138694.4(PKHD1):c.1600C>A (p.Leu534Met)
|
|
|
NM_138694.4(PKHD1):c.1628T>C (p.Leu543Pro)
|
|
|
NM_138694.4(PKHD1):c.166T>C (p.Ser56Pro)
|
|
|
NM_138694.4(PKHD1):c.1714G>A (p.Asp572Asn)
|
|
|
NM_138694.4(PKHD1):c.1747T>A (p.Cys583Ser)
|
|
|
NM_138694.4(PKHD1):c.1817G>A (p.Arg606Gln)
|
|
|
NM_138694.4(PKHD1):c.187_189del (p.Val63del)
|
rs1554228222
|
|
NM_138694.4(PKHD1):c.1900G>A (p.Gly634Ser)
|
|
|
NM_138694.4(PKHD1):c.1940G>A (p.Ser647Asn)
|
rs1554214687
|
|
NM_138694.4(PKHD1):c.1946C>T (p.Thr649Met)
|
|
|
NM_138694.4(PKHD1):c.1947_1952del (p.Arg650_Thr651del)
|
rs1554214650
|
|
NM_138694.4(PKHD1):c.1953_1964delCAGCCCCGAGAG (p.Ser652_Ser655del)
|
|
|
NM_138694.4(PKHD1):c.1975G>A (p.Asp659Asn)
|
|
|
NM_138694.4(PKHD1):c.1980C>G (p.Cys660Trp)
|
rs1554214097
|
|
NM_138694.4(PKHD1):c.1982C>T (p.Thr661Ile)
|
rs1012552954
|
|
NM_138694.4(PKHD1):c.2005C>G (p.Arg669Gly)
|
rs375547868
|
|
NM_138694.4(PKHD1):c.2005C>T (p.Arg669Cys)
|
|
|
NM_138694.4(PKHD1):c.206T>C (p.Val69Ala)
|
|
|
NM_138694.4(PKHD1):c.208C>A (p.Pro70Thr)
|
rs781485593
|
|
NM_138694.4(PKHD1):c.208C>T (p.Pro70Ser)
|
rs781485593
|
|
NM_138694.4(PKHD1):c.2120T>G (p.Ile707Ser)
|
rs2128203303
|
|
NM_138694.4(PKHD1):c.2134G>C (p.Val712Leu)
|
rs144455663
|
|
NM_138694.4(PKHD1):c.2165C>T (p.Ala722Val)
|
|
|
NM_138694.4(PKHD1):c.2168G>A (p.Arg723His)
|
rs150597050
|
|
NM_138694.4(PKHD1):c.2172_2174del (p.Gly726del)
|
rs763682158
|
|
NM_138694.4(PKHD1):c.2179A>G (p.Asn727Asp)
|
|
|
NM_138694.4(PKHD1):c.2200G>T (p.Val734Leu)
|
rs1806591259
|
|
NM_138694.4(PKHD1):c.2217G>A (p.Pro739=)
|
rs373367366
|
|
NM_138694.4(PKHD1):c.2269A>C (p.Ile757Leu)
|
rs777183511
|
|
NM_138694.4(PKHD1):c.2269A>G (p.Ile757Val)
|
rs777183511
|
|
NM_138694.4(PKHD1):c.2280-3C>T
|
|
|
NM_138694.4(PKHD1):c.2306A>G (p.Glu769Gly)
|
|
|
NM_138694.4(PKHD1):c.2341C>G (p.Arg781Gly)
|
|
|
NM_138694.4(PKHD1):c.2357C>T (p.Pro786Leu)
|
rs1806234590
|
|
NM_138694.4(PKHD1):c.2371C>G (p.His791Asp)
|
rs781097626
|
|
NM_138694.4(PKHD1):c.2396C>G (p.Thr799Arg)
|
rs1465053705
|
|
NM_138694.4(PKHD1):c.2445G>T (p.Gln815His)
|
rs775446499
|
|
NM_138694.4(PKHD1):c.2463C>G (p.Ala821=)
|
rs9474136
|
|
NM_138694.4(PKHD1):c.2463C>T (p.Ala821=)
|
rs9474136
|
|
NM_138694.4(PKHD1):c.2483A>G (p.Tyr828Cys)
|
rs781698219
|
|
NM_138694.4(PKHD1):c.2507_2515del (p.Val836_Glu838del)
|
rs1554209944
|
|
NM_138694.4(PKHD1):c.2516A>G (p.Asp839Gly)
|
|
|
NM_138694.4(PKHD1):c.2569G>A (p.Gly857Arg)
|
rs1562220663
|
|
NM_138694.4(PKHD1):c.2593-3C>T
|
rs1290670072
|
|
NM_138694.4(PKHD1):c.2597C>G (p.Ser866Cys)
|
rs776017473
|
|
NM_138694.4(PKHD1):c.2612C>G (p.Thr871Ser)
|
|
|
NM_138694.4(PKHD1):c.2626G>C (p.Ala876Pro)
|
rs1581922432
|
|
NM_138694.4(PKHD1):c.2627C>T (p.Ala876Val)
|
|
|
NM_138694.4(PKHD1):c.2636C>T (p.Thr879Met)
|
|
|
NM_138694.4(PKHD1):c.2642T>C (p.Val881Ala)
|
rs373974753
|
|
NM_138694.4(PKHD1):c.2654G>A (p.Gly885Asp)
|
rs1307445542
|
|
NM_138694.4(PKHD1):c.2716-3C>G
|
rs1057518964
|
|
NM_138694.4(PKHD1):c.2722G>T (p.Val908Leu)
|
rs2128184282
|
|
NM_138694.4(PKHD1):c.2729_2731delinsCTC (p.Val910_Asn911delinsAlaHis)
|
rs2128184229
|
|
NM_138694.4(PKHD1):c.2733_2734insTGCCCAGGTTCAGGT (p.Asn911_Asp912insCysProGlySerGly)
|
rs2128184195
|
|
NM_138694.4(PKHD1):c.2740C>T (p.Pro914Ser)
|
|
|
NM_138694.4(PKHD1):c.281+13G>A
|
rs1812167147
|
|
NM_138694.4(PKHD1):c.281+2dup
|
rs1554228127
|
|
NM_138694.4(PKHD1):c.2834A>T (p.Asn945Ile)
|
|
|
NM_138694.4(PKHD1):c.2853C>A (p.Thr951=)
|
rs139815340
|
|
NM_138694.4(PKHD1):c.2926T>C (p.Ser976Pro)
|
rs770882723
|
|
NM_138694.4(PKHD1):c.2948G>A (p.Cys983Tyr)
|
rs1554208064
|
|
NM_138694.4(PKHD1):c.2957A>T (p.Asp986Val)
|
rs957113162
|
|
NM_138694.4(PKHD1):c.2971G>A (p.Gly991Arg)
|
rs794727447
|
|
NM_138694.4(PKHD1):c.2990T>A (p.Met997Lys)
|
rs2128182593
|
|
NM_138694.4(PKHD1):c.3016A>G (p.Ile1006Val)
|
|
|
NM_138694.4(PKHD1):c.3060A>G (p.Arg1020=)
|
|
|
NM_138694.4(PKHD1):c.3072G>A (p.Val1024=)
|
rs1581909859
|
|
NM_138694.4(PKHD1):c.3110CCA[1] (p.Thr1038del)
|
rs1554204118
|
|
NM_138694.4(PKHD1):c.3118C>G (p.Arg1040Gly)
|
rs755183117
|
|
NM_138694.4(PKHD1):c.3122G>A (p.Gly1041Asp)
|
rs794727466
|
|
NM_138694.4(PKHD1):c.3167C>T (p.Ser1056Leu)
|
|
|
NM_138694.4(PKHD1):c.3170G>A (p.Cys1057Tyr)
|
|
|
NM_138694.4(PKHD1):c.3178A>T (p.Asn1060Tyr)
|
|
|
NM_138694.4(PKHD1):c.3192C>A (p.Ser1064Arg)
|
|
|
NM_138694.4(PKHD1):c.3223C>G (p.Pro1075Ala)
|
rs1229292183
|
|
NM_138694.4(PKHD1):c.3259G>A (p.Val1087Met)
|
rs372422063
|
|
NM_138694.4(PKHD1):c.3269_3280del (p.Gly1090_Ser1093del)
|
rs1554202991
|
|
NM_138694.4(PKHD1):c.3289C>T (p.Pro1097Ser)
|
|
|
NM_138694.4(PKHD1):c.3311C>T (p.Ser1104Phe)
|
rs769085607
|
|
NM_138694.4(PKHD1):c.3373A>G (p.Thr1125Ala)
|
rs144365187
|
|
NM_138694.4(PKHD1):c.3406T>A (p.Tyr1136Asn)
|
|
|
NM_138694.4(PKHD1):c.3410C>T (p.Thr1137Met)
|
|
|
NM_138694.4(PKHD1):c.3412G>A (p.Asp1138Asn)
|
rs1192156901
|
|
NM_138694.4(PKHD1):c.3474G>A (p.Trp1158Ter)
|
rs886061619
|
|
NM_138694.4(PKHD1):c.3481G>C (p.Glu1161Gln)
|
rs878855202
|
|
NM_138694.4(PKHD1):c.3545G>C (p.Ser1182Thr)
|
|
|
NM_138694.4(PKHD1):c.3631G>A (p.Gly1211Arg)
|
|
|
NM_138694.4(PKHD1):c.3637A>T (p.Ile1213Phe)
|
|
|
NM_138694.4(PKHD1):c.3643A>G (p.Ser1215Gly)
|
rs752105357
|
|
NM_138694.4(PKHD1):c.3645C>T (p.Ser1215=)
|
rs1581815094
|
|
NM_138694.4(PKHD1):c.3695T>G (p.Val1232Gly)
|
|
|
NM_138694.4(PKHD1):c.3701A>G (p.Asn1234Ser)
|
rs1802145665
|
|
NM_138694.4(PKHD1):c.3707C>T (p.Ser1236Phe)
|
rs542983527
|
|
NM_138694.4(PKHD1):c.3734C>A (p.Ala1245Glu)
|
rs140815495
|
|
NM_138694.4(PKHD1):c.3734C>T (p.Ala1245Val)
|
rs140815495
|
|
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs)
|
rs746972457
|
|
NM_138694.4(PKHD1):c.3828G>A (p.Arg1276=)
|
rs1373102999
|
|
NM_138694.4(PKHD1):c.3920A>T (p.Gln1307Leu)
|
|
|
NM_138694.4(PKHD1):c.402G>A (p.Ala134=)
|
rs200992930
|
|
NM_138694.4(PKHD1):c.4091A>G (p.Tyr1364Cys)
|
|
|
NM_138694.4(PKHD1):c.40C>G (p.Leu14Val)
|
|
|
NM_138694.4(PKHD1):c.4133T>C (p.Met1378Thr)
|
rs1178166648
|
|
NM_138694.4(PKHD1):c.4142T>G (p.Val1381Gly)
|
|
|
NM_138694.4(PKHD1):c.415G>A (p.Val139Ile)
|
|
|
NM_138694.4(PKHD1):c.4161G>C (p.Val1387=)
|
rs1802043497
|
|
NM_138694.4(PKHD1):c.4168C>G (p.Arg1390Gly)
|
|
|
NM_138694.4(PKHD1):c.4187C>T (p.Pro1396Leu)
|
rs1581809655
|
|
NM_138694.4(PKHD1):c.4212G>C (p.Gly1404=)
|
rs751984319
|
|
NM_138694.4(PKHD1):c.4217T>C (p.Ile1406Thr)
|
rs1562166222
|
|
NM_138694.4(PKHD1):c.4244A>T (p.Asn1415Ile)
|
|
|
NM_138694.4(PKHD1):c.4273C>T (p.Leu1425Phe)
|
rs565836750
|
|
NM_138694.4(PKHD1):c.4304G>A (p.Ser1435Asn)
|
rs138242579
|
|
NM_138694.4(PKHD1):c.4314C>A (p.Asp1438Glu)
|
|
|
NM_138694.4(PKHD1):c.4363_4364delinsAA (p.Ala1455Asn)
|
rs2128144041
|
|
NM_138694.4(PKHD1):c.4454G>A (p.Ser1485Asn)
|
rs370608473
|
|
NM_138694.4(PKHD1):c.4459G>C (p.Val1487Leu)
|
|
|
NM_138694.4(PKHD1):c.4463T>C (p.Met1488Thr)
|
rs1801992008
|
|
NM_138694.4(PKHD1):c.4465G>C (p.Asp1489His)
|
|
|
NM_138694.4(PKHD1):c.4477A>C (p.Thr1493Pro)
|
rs745429712
|
|
NM_138694.4(PKHD1):c.4489G>A (p.Gly1497Arg)
|
|
|
NM_138694.4(PKHD1):c.449-6A>T
|
rs200204976
|
|
NM_138694.4(PKHD1):c.4505T>A (p.Val1502Glu)
|
rs1581806804
|
|
NM_138694.4(PKHD1):c.454C>G (p.Leu152Val)
|
rs2128234015
|
|
NM_138694.4(PKHD1):c.488G>T (p.Arg163Ile)
|
rs932913425
|
|
NM_138694.4(PKHD1):c.50C>T (p.Ala17Val)
|
|
|
NM_138694.4(PKHD1):c.5263G>A (p.Val1755Met)
|
rs1201402132
|
|
NM_138694.4(PKHD1):c.5273C>T (p.Ala1758Val)
|
|
|
NM_138694.4(PKHD1):c.528-17dup
|
rs753686281
|
|
NM_138694.4(PKHD1):c.5342C>T (p.Thr1781Ile)
|
rs1554197025
|
|
NM_138694.4(PKHD1):c.534G>A (p.Val178=)
|
rs1226545035
|
|
NM_138694.4(PKHD1):c.5356A>G (p.Ser1786Gly)
|
|
|
NM_138694.4(PKHD1):c.5358C>G (p.Ser1786Arg)
|
|
|
NM_138694.4(PKHD1):c.5365G>C (p.Val1789Leu)
|
rs1288521396
|
|
NM_138694.4(PKHD1):c.5372C>A (p.Pro1791His)
|
rs886042677
|
|
NM_138694.4(PKHD1):c.5372C>T (p.Pro1791Leu)
|
rs886042677
|
|
NM_138694.4(PKHD1):c.5381-9T>G
|
rs1332944383
|
|
NM_138694.4(PKHD1):c.5381T>C (p.Val1794Ala)
|
rs780643984
|
|
NM_138694.4(PKHD1):c.5410C>T (p.Arg1804Cys)
|
rs201906247
|
|
NM_138694.4(PKHD1):c.5411G>T (p.Arg1804Leu)
|
|
|
NM_138694.4(PKHD1):c.5415GGA[1] (p.Glu1806del)
|
rs1554194551
|
|
NM_138694.4(PKHD1):c.5425T>G (p.Cys1809Gly)
|
rs1800745753
|
|
NM_138694.4(PKHD1):c.5426G>A (p.Cys1809Tyr)
|
rs1800745257
|
|
NM_138694.4(PKHD1):c.5440C>T (p.His1814Tyr)
|
rs1800742665
|
|
NM_138694.4(PKHD1):c.5473A>G (p.Met1825Val)
|
|
|
NM_138694.4(PKHD1):c.5478G>C (p.Ala1826=)
|
rs137925439
|
|
NM_138694.4(PKHD1):c.5480C>T (p.Thr1827Ile)
|
|
|
NM_138694.4(PKHD1):c.5503C>T (p.Pro1835Ser)
|
rs1562140504
|
|
NM_138694.4(PKHD1):c.5521G>A (p.Glu1841Lys)
|
rs913487671
|
|
NM_138694.4(PKHD1):c.5574T>G (p.Phe1858Leu)
|
rs1562140096
|
|
NM_138694.4(PKHD1):c.5587G>T (p.Gly1863Cys)
|
rs776275341
|
|
NM_138694.4(PKHD1):c.5599A>G (p.Ser1867Gly)
|
|
|
NM_138694.4(PKHD1):c.5600+6T>C
|
rs1800710573
|
|
NM_138694.4(PKHD1):c.5641_5649del (p.Ser1881_Asn1883del)
|
rs1554191359
|
|
NM_138694.4(PKHD1):c.5642C>A (p.Ser1881Tyr)
|
rs864622533
|
|
NM_138694.4(PKHD1):c.5660A>C (p.Glu1887Ala)
|
|
|
NM_138694.4(PKHD1):c.5680T>A (p.Cys1894Ser)
|
rs2128117206
|
|
NM_138694.4(PKHD1):c.5687C>G (p.Thr1896Arg)
|
|
|
NM_138694.4(PKHD1):c.5693A>G (p.Asn1898Ser)
|
|
|
NM_138694.4(PKHD1):c.5708T>C (p.Val1903Ala)
|
|
|
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>G (p.Ser1929Cys)
|
rs1791759592
|
|
NM_138694.4(PKHD1):c.5786C>T (p.Ser1929Phe)
|
rs1791759592
|
|
NM_138694.4(PKHD1):c.5801G>T (p.Trp1934Leu)
|
|
|
NM_138694.4(PKHD1):c.5825A>G (p.Asp1942Gly)
|
rs1210846081
|
|
NM_138694.4(PKHD1):c.5831A>G (p.Asp1944Gly)
|
rs2127946960
|
|
NM_138694.4(PKHD1):c.5862_5864del (p.Leu1956del)
|
rs1554162788
|
|
NM_138694.4(PKHD1):c.5885T>G (p.Ile1962Ser)
|
rs756573585
|
|
NM_138694.4(PKHD1):c.5903T>G (p.Ile1968Ser)
|
rs1791737049
|
|
NM_138694.4(PKHD1):c.5959G>T (p.Ala1987Ser)
|
rs375949362
|
|
NM_138694.4(PKHD1):c.5977G>T (p.Gly1993Cys)
|
|
|
NM_138694.4(PKHD1):c.5989C>T (p.Arg1997Trp)
|
|
|
NM_138694.4(PKHD1):c.5993T>C (p.Ile1998Thr)
|
rs1210348558
|
|
NM_138694.4(PKHD1):c.5996G>C (p.Gly1999Ala)
|
rs2127768810
|
|
NM_138694.4(PKHD1):c.601T>G (p.Cys201Gly)
|
rs1810703881
|
|
NM_138694.4(PKHD1):c.6038T>C (p.Leu2013Pro)
|
rs1554144276
|
|
NM_138694.4(PKHD1):c.6050C>G (p.Ser2017Cys)
|
rs1787094080
|
|
NM_138694.4(PKHD1):c.6074A>G (p.Tyr2025Cys)
|
rs1554144226
|
|
NM_138694.4(PKHD1):c.6101A>T (p.Asn2034Ile)
|
|
|
NM_138694.4(PKHD1):c.6122G>T (p.Gly2041Val)
|
rs2127668227
|
|
NM_138694.4(PKHD1):c.6149G>C (p.Cys2050Ser)
|
rs551783157
|
|
NM_138694.4(PKHD1):c.6170C>A (p.Ala2057Asp)
|
|
|
NM_138694.4(PKHD1):c.619G>T (p.Asp207Tyr)
|
|
|
NM_138694.4(PKHD1):c.6226G>A (p.Val2076Ile)
|
|
|
NM_138694.4(PKHD1):c.6311T>G (p.Leu2104Arg)
|
|
|
NM_138694.4(PKHD1):c.6332+2T>A
|
rs1783090781
|
|
NM_138694.4(PKHD1):c.6332+3A>C
|
|
|
NM_138694.4(PKHD1):c.6360G>C (p.Trp2120Cys)
|
rs1440253606
|
|
NM_138694.4(PKHD1):c.6427G>A (p.Gly2143Arg)
|
|
|
NM_138694.4(PKHD1):c.6439_6441del (p.Asn2147del)
|
rs1554133798
|
|
NM_138694.4(PKHD1):c.6490G>A (p.Gly2164Ser)
|
rs147595459
|
|
NM_138694.4(PKHD1):c.6506G>A (p.Cys2169Tyr)
|
|
|
NM_138694.4(PKHD1):c.6580G>C (p.Glu2194Gln)
|
|
|
NM_138694.4(PKHD1):c.6623T>G (p.Val2208Gly)
|
|
|
NM_138694.4(PKHD1):c.662A>G (p.Tyr221Cys)
|
rs1554223332
|
|
NM_138694.4(PKHD1):c.6635C>G (p.Ala2212Gly)
|
|
|
NM_138694.4(PKHD1):c.6641A>G (p.His2214Arg)
|
rs778124617
|
|
NM_138694.4(PKHD1):c.664A>C (p.Ile222Leu)
|
rs369925690
|
|
NM_138694.4(PKHD1):c.6652A>T (p.Ser2218Cys)
|
rs756450923
|
|
NM_138694.4(PKHD1):c.6683-3C>T
|
rs1554300531
|
|
NM_138694.4(PKHD1):c.6691A>G (p.Ile2231Val)
|
rs2127637295
|
|
NM_138694.4(PKHD1):c.6730C>G (p.Leu2244Val)
|
|
|
NM_138694.4(PKHD1):c.674A>G (p.Gln225Arg)
|
rs749690371
|
|
NM_138694.4(PKHD1):c.6756G>A (p.Leu2252=)
|
rs368194577
|
|
NM_138694.4(PKHD1):c.6771T>G (p.Asn2257Lys)
|
rs1315333212
|
|
NM_138694.4(PKHD1):c.6777C>G (p.Phe2259Leu)
|
|
|
NM_138694.4(PKHD1):c.6818C>T (p.Thr2273Met)
|
|
|
NM_138694.4(PKHD1):c.6866-4_6866-2del
|
rs748114217
|
|
NM_138694.4(PKHD1):c.6866-5A>G
|
rs886061617
|
|
NM_138694.4(PKHD1):c.6869G>T (p.Trp2290Leu)
|
|
|
NM_138694.4(PKHD1):c.6887TAA[1] (p.Ile2297del)
|
rs1554299250
|
|
NM_138694.4(PKHD1):c.6898A>G (p.Asn2300Asp)
|
rs2127622765
|
|
NM_138694.4(PKHD1):c.6900C>G (p.Asn2300Lys)
|
rs776060304
|
|
NM_138694.4(PKHD1):c.6919G>C (p.Gly2307Arg)
|
rs765874902
|
|
NM_138694.4(PKHD1):c.6924C>G (p.Ala2308=)
|
rs373795139
|
|
NM_138694.4(PKHD1):c.6938A>G (p.Asn2313Ser)
|
rs1334374415
|
|
NM_138694.4(PKHD1):c.6996G>A (p.Glu2332=)
|
rs775831255
|
|
NM_138694.4(PKHD1):c.6997-5T>C
|
rs1422813423
|
|
NM_138694.4(PKHD1):c.700A>G (p.Lys234Glu)
|
rs2128229167
|
|
NM_138694.4(PKHD1):c.7012G>C (p.Gly2338Arg)
|
rs2127557145
|
|
NM_138694.4(PKHD1):c.7029C>A (p.Tyr2343Ter)
|
rs202223718
|
|
NM_138694.4(PKHD1):c.7103G>T (p.Cys2368Phe)
|
|
|
NM_138694.4(PKHD1):c.7106_7108del (p.Thr2369del)
|
rs1554290053
|
|
NM_138694.4(PKHD1):c.712A>G (p.Met238Val)
|
|
|
NM_138694.4(PKHD1):c.7171C>G (p.Leu2391Val)
|
|
|
NM_138694.4(PKHD1):c.7172T>C (p.Leu2391Pro)
|
rs759314898
|
|
NM_138694.4(PKHD1):c.7173G>C (p.Leu2391=)
|
rs765985090
|
|
NM_138694.4(PKHD1):c.7180A>G (p.Ser2394Gly)
|
|
|
NM_138694.4(PKHD1):c.7210G>A (p.Ala2404Thr)
|
|
|
NM_138694.4(PKHD1):c.7264T>G (p.Cys2422Gly)
|
rs201881567
|
|
NM_138694.4(PKHD1):c.727G>T (p.Ala243Ser)
|
rs773601448
|
|
NM_138694.4(PKHD1):c.7286T>C (p.Val2429Ala)
|
|
|
NM_138694.4(PKHD1):c.7301C>T (p.Ala2434Val)
|
rs753450358
|
|
NM_138694.4(PKHD1):c.7305T>G (p.Asn2435Lys)
|
|
|
NM_138694.4(PKHD1):c.7350+5G>A
|
rs1554287798
|
|
NM_138694.4(PKHD1):c.737T>C (p.Ile246Thr)
|
rs1037991711
|
|
NM_138694.4(PKHD1):c.7392A>G (p.Arg2464=)
|
rs1775822734
|
|
NM_138694.4(PKHD1):c.7400T>C (p.Leu2467Pro)
|
|
|
NM_138694.4(PKHD1):c.7429T>A (p.Phe2477Ile)
|
rs2151777825
|
|
NM_138694.4(PKHD1):c.7450G>T (p.Ala2484Ser)
|
|
|
NM_138694.4(PKHD1):c.7472G>A (p.Cys2491Tyr)
|
rs774331743
|
|
NM_138694.4(PKHD1):c.7487-5TA[3]
|
rs1554281310
|
|
NM_138694.4(PKHD1):c.7514T>G (p.Leu2505Trp)
|
rs769645972
|
|
NM_138694.4(PKHD1):c.7597G>C (p.Gly2533Arg)
|
rs1246936197
|
|
NM_138694.4(PKHD1):c.7601A>G (p.Lys2534Arg)
|
rs1775357730
|
|
NM_138694.4(PKHD1):c.7635C>G (p.Thr2545=)
|
rs779757789
|
|
NM_138694.4(PKHD1):c.7673G>A (p.Arg2558Gln)
|
rs369677008
|
|
NM_138694.4(PKHD1):c.7673G>C (p.Arg2558Pro)
|
|
|
NM_138694.4(PKHD1):c.7684G>A (p.Gly2562Ser)
|
rs1358906875
|
|
NM_138694.4(PKHD1):c.769A>C (p.Thr257Pro)
|
rs778755997
|
|
NM_138694.4(PKHD1):c.7714C>G (p.His2572Asp)
|
|
|
NM_138694.4(PKHD1):c.7750G>A (p.Val2584Ile)
|
rs748895723
|
|
NM_138694.4(PKHD1):c.776C>T (p.Ser259Leu)
|
rs1160054242
|
|
NM_138694.4(PKHD1):c.778+3A>G
|
|
|
NM_138694.4(PKHD1):c.779-12del
|
rs5876252
|
|
NM_138694.4(PKHD1):c.779-9dup
|
rs886061624
|
|
NM_138694.4(PKHD1):c.7811G>A (p.Arg2604His)
|
|
|
NM_138694.4(PKHD1):c.7814A>C (p.Asp2605Ala)
|
rs1773239517
|
|
NM_138694.4(PKHD1):c.782T>C (p.Ile261Thr)
|
rs398124493
|
|
NM_138694.4(PKHD1):c.7849C>T (p.Leu2617Phe)
|
rs746288867
|
|
NM_138694.4(PKHD1):c.7866C>T (p.Thr2622=)
|
rs752563887
|
|
NM_138694.4(PKHD1):c.7867T>C (p.Tyr2623His)
|
|
|
NM_138694.4(PKHD1):c.787T>C (p.Ser263Pro)
|
|
|
NM_138694.4(PKHD1):c.788C>T (p.Ser263Phe)
|
|
|
NM_138694.4(PKHD1):c.7946A>T (p.Asn2649Ile)
|
rs2151628916
|
|
NM_138694.4(PKHD1):c.8012G>T (p.Arg2671Leu)
|
rs778592523
|
|
NM_138694.4(PKHD1):c.8023T>A (p.Ser2675Thr)
|
|
|
NM_138694.4(PKHD1):c.8090G>C (p.Arg2697Thr)
|
|
|
NM_138694.4(PKHD1):c.810C>A (p.Ser270Arg)
|
rs754448530
|
|
NM_138694.4(PKHD1):c.8110T>A (p.Ser2704Thr)
|
|
|
NM_138694.4(PKHD1):c.8145G>T (p.Val2715=)
|
rs1431478120
|
|
NM_138694.4(PKHD1):c.8174-18dup
|
rs566540835
|
|
NM_138694.4(PKHD1):c.8207G>C (p.Trp2736Ser)
|
rs1562410452
|
|
NM_138694.4(PKHD1):c.8243_8244delinsCT (p.Gly2748Ala)
|
rs1562410143
|
|
NM_138694.4(PKHD1):c.8258A>G (p.Asn2753Ser)
|
rs749313015
|
|
NM_138694.4(PKHD1):c.8270C>G (p.Pro2757Arg)
|
rs1554263087
|
|
NM_138694.4(PKHD1):c.8274C>T (p.Gly2758=)
|
rs368178645
|
|
NM_138694.4(PKHD1):c.8281G>T (p.Asp2761Tyr)
|
rs1554263080
|
|
NM_138694.4(PKHD1):c.8282A>T (p.Asp2761Val)
|
rs2151511198
|
|
NM_138694.4(PKHD1):c.8299C>T (p.Pro2767Ser)
|
rs764600547
|
|
NM_138694.4(PKHD1):c.8332C>T (p.Pro2778Ser)
|
|
|
NM_138694.4(PKHD1):c.8345G>A (p.Gly2782Glu)
|
|
|
NM_138694.4(PKHD1):c.8351A>G (p.Tyr2784Cys)
|
rs1793710520
|
|
NM_138694.4(PKHD1):c.8363C>G (p.Thr2788Ser)
|
rs2151262384
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NM_138694.4(PKHD1):c.8378T>C (p.Val2793Ala)
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rs2151262174
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NM_138694.4(PKHD1):c.8393T>G (p.Val2798Gly)
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rs1554243589
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NM_138694.4(PKHD1):c.8412G>A (p.Met2804Ile)
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rs1363630467
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NM_138694.4(PKHD1):c.8441-5A>G
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rs922193595
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NM_138694.4(PKHD1):c.8470C>G (p.Gln2824Glu)
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NM_138694.4(PKHD1):c.847T>C (p.Phe283Leu)
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rs375145340
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NM_138694.4(PKHD1):c.8552T>C (p.Ile2851Thr)
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rs1554232224
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NM_138694.4(PKHD1):c.8570T>C (p.Val2857Ala)
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rs1790366459
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NM_138694.4(PKHD1):c.8590C>G (p.Pro2864Ala)
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NM_138694.4(PKHD1):c.8635A>T (p.Asn2879Tyr)
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rs2151137736
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NM_138694.4(PKHD1):c.8648TAG[1] (p.Val2884del)
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rs1554221478
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NM_138694.4(PKHD1):c.8677C>G (p.His2893Asp)
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rs886061615
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NM_138694.4(PKHD1):c.8683A>G (p.Lys2895Glu)
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rs1786704837
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NM_138694.4(PKHD1):c.8741AAG[3] (p.Glu2915dup)
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rs1554221417
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NM_138694.4(PKHD1):c.8776C>G (p.Arg2926Gly)
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rs757650951
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NM_138694.4(PKHD1):c.8789G>A (p.Arg2930Gln)
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NM_138694.4(PKHD1):c.8799_8801dup (p.Gly2933_Ser2934insArg)
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rs781387046
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NM_138694.4(PKHD1):c.8807A>G (p.His2936Arg)
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NM_138694.4(PKHD1):c.8837T>C (p.Leu2946Ser)
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rs1582469785
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NM_138694.4(PKHD1):c.8861C>T (p.Thr2954Ile)
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NM_138694.4(PKHD1):c.8885A>G (p.Asp2962Gly)
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rs1554220680
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NM_138694.4(PKHD1):c.888A>G (p.Pro296=)
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rs76012218
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NM_138694.4(PKHD1):c.8893T>C (p.Cys2965Arg)
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rs770068023
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NM_138694.4(PKHD1):c.8894G>A (p.Cys2965Tyr)
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rs1786406368
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NM_138694.4(PKHD1):c.8899G>A (p.Gly2967Arg)
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NM_138694.4(PKHD1):c.889T>C (p.Cys297Arg)
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rs1231976944
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NM_138694.4(PKHD1):c.893A>G (p.Asp298Gly)
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NM_138694.4(PKHD1):c.8989G>A (p.Gly2997Arg)
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rs886061614
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NM_138694.4(PKHD1):c.9027G>T (p.Val3009=)
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rs1785566962
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NM_138694.4(PKHD1):c.9044T>G (p.Ile3015Ser)
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rs2150987139
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NM_138694.4(PKHD1):c.904G>A (p.Val302Met)
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rs779418460
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NM_138694.4(PKHD1):c.9095C>A (p.Ala3032Asp)
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rs1444969670
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NM_138694.4(PKHD1):c.9148G>T (p.Gly3050Cys)
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NM_138694.4(PKHD1):c.9154G>C (p.Asp3052His)
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rs765526
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NM_138694.4(PKHD1):c.9163G>T (p.Gly3055Cys)
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rs1060501355
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NM_138694.4(PKHD1):c.920T>C (p.Ile307Thr)
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rs1288017883
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NM_138694.4(PKHD1):c.9211C>G (p.Pro3071Ala)
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rs1785533041
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NM_138694.4(PKHD1):c.9253C>G (p.Gln3085Glu)
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rs1164973591
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NM_138694.4(PKHD1):c.925T>C (p.Cys309Arg)
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NM_138694.4(PKHD1):c.9268A>G (p.Asn3090Asp)
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rs1785519408
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NM_138694.4(PKHD1):c.9269A>G (p.Asn3090Ser)
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rs1785518946
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NM_138694.4(PKHD1):c.9289G>A (p.Ala3097Thr)
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NM_138694.4(PKHD1):c.9299A>G (p.Glu3100Gly)
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rs749998868
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NM_138694.4(PKHD1):c.9327C>G (p.His3109Gln)
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rs1160858819
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NM_138694.4(PKHD1):c.9368C>T (p.Ala3123Val)
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NM_138694.4(PKHD1):c.9369G>T (p.Ala3123=)
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rs745523374
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NM_138694.4(PKHD1):c.9371A>C (p.His3124Pro)
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rs373241537
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NM_138694.4(PKHD1):c.93C>A (p.Ser31Arg)
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NM_138694.4(PKHD1):c.9400A>G (p.Lys3134Glu)
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rs2150984204
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NM_138694.4(PKHD1):c.9448T>C (p.Phe3150Leu)
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rs2150983802
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NM_138694.4(PKHD1):c.9469_9470delinsAA (p.Ala3157Asn)
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rs878855204
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NM_138694.4(PKHD1):c.9529A>G (p.Ile3177Val)
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NM_138694.4(PKHD1):c.9544G>A (p.Val3182Ile)
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rs575058604
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NM_138694.4(PKHD1):c.9583_9585del (p.Lys3195del)
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rs1554218479
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NM_138694.4(PKHD1):c.9585A>C (p.Lys3195Asn)
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rs1417442108
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NM_138694.4(PKHD1):c.9598C>T (p.Leu3200Phe)
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NM_138694.4(PKHD1):c.9613A>C (p.Ile3205Leu)
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NM_138694.4(PKHD1):c.9614T>C (p.Ile3205Thr)
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NM_138694.4(PKHD1):c.961A>G (p.Thr321Ala)
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rs2128221798
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NM_138694.4(PKHD1):c.9625A>C (p.Ser3209Arg)
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rs1785450007
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NM_138694.4(PKHD1):c.9693A>C (p.Arg3231Ser)
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rs1194740215
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NM_138694.4(PKHD1):c.9705T>A (p.Asn3235Lys)
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rs759568939
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NM_138694.4(PKHD1):c.9725G>C (p.Gly3242Ala)
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rs886044327
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NM_138694.4(PKHD1):c.9739G>C (p.Val3247Leu)
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rs2150981332
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NM_138694.4(PKHD1):c.9817A>C (p.Met3273Leu)
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rs1562221107
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NM_138694.4(PKHD1):c.9820A>G (p.Lys3274Glu)
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NM_138694.4(PKHD1):c.9856A>T (p.Ser3286Cys)
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rs770299635
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NM_138694.4(PKHD1):c.9868G>A (p.Asp3290Asn)
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rs370659581
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NM_138694.4(PKHD1):c.9923C>G (p.Pro3308Arg)
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rs1307732644
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NM_138694.4(PKHD1):c.9970A>G (p.Lys3324Glu)
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rs1785240656
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NM_138694.4(PKHD1):c.9973T>C (p.Phe3325Leu)
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rs199924729
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NM_138694.4(PKHD1):c.9974_9976del (p.Phe3325del)
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NM_138694.4(PKHD1):c.9998G>A (p.Arg3333Lys)
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rs1057524563
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