NM_138694.4(PKHD1):c.3627G>A (p.Leu1209=)
|
rs182216709
|
0.00060
|
NM_138694.4(PKHD1):c.129T>C (p.Asp43=)
|
rs201195801
|
0.00040
|
NM_138694.4(PKHD1):c.10909C>T (p.Arg3637Cys)
|
rs141349745
|
0.00025
|
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg)
|
rs149798764
|
0.00024
|
NM_138694.4(PKHD1):c.5585C>T (p.Ser1862Leu)
|
rs147933501
|
0.00022
|
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.1717G>T (p.Gly573Trp)
|
rs143867809
|
0.00019
|
NM_138694.4(PKHD1):c.7736C>T (p.Ala2579Val)
|
rs78361537
|
0.00019
|
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.5692A>G (p.Asn1898Asp)
|
rs756825030
|
0.00014
|
NM_138694.4(PKHD1):c.10619A>G (p.Asp3540Gly)
|
rs539832575
|
0.00013
|
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.7911+5C>A
|
rs199953233
|
0.00012
|
NM_138694.4(PKHD1):c.5266T>C (p.Phe1756Leu)
|
rs368467585
|
0.00011
|
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.1835A>G (p.His612Arg)
|
rs369932370
|
0.00009
|
NM_138694.4(PKHD1):c.282-3C>T
|
rs535210707
|
0.00009
|
NM_138694.4(PKHD1):c.8519G>A (p.Arg2840His)
|
rs373643848
|
0.00008
|
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.10775A>G (p.Gln3592Arg)
|
rs761871204
|
0.00006
|
NM_138694.4(PKHD1):c.6238A>G (p.Ser2080Gly)
|
rs528966196
|
0.00006
|
NM_138694.4(PKHD1):c.6352G>A (p.Glu2118Lys)
|
rs751529187
|
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.9665A>G (p.His3222Arg)
|
rs777989032
|
0.00006
|
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.4265G>A (p.Arg1422Gln)
|
rs557773345
|
0.00005
|
NM_138694.4(PKHD1):c.49G>T (p.Ala17Ser)
|
rs149293970
|
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.9530T>C (p.Ile3177Thr)
|
rs200511261
|
0.00005
|
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.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.218G>A (p.Arg73Gln)
|
rs577541526
|
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.3806T>C (p.Val1269Ala)
|
rs1398646157
|
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.4835C>A (p.Thr1612Asn)
|
rs754964877
|
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.7469A>G (p.Asp2490Gly)
|
rs746000400
|
0.00004
|
NM_138694.4(PKHD1):c.10250G>A (p.Ser3417Asn)
|
rs778583323
|
0.00003
|
NM_138694.4(PKHD1):c.11756C>T (p.Pro3919Leu)
|
rs775014599
|
0.00003
|
NM_138694.4(PKHD1):c.12200C>T (p.Pro4067Leu)
|
rs758871283
|
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.2407+5A>G
|
rs767994974
|
0.00003
|
NM_138694.4(PKHD1):c.2539G>A (p.Val847Met)
|
rs778864835
|
0.00003
|
NM_138694.4(PKHD1):c.377G>A (p.Ser126Asn)
|
rs779094064
|
0.00003
|
NM_138694.4(PKHD1):c.4418A>G (p.Gln1473Arg)
|
rs780740862
|
0.00003
|
NM_138694.4(PKHD1):c.544G>A (p.Ala182Thr)
|
rs142346881
|
0.00003
|
NM_138694.4(PKHD1):c.6583G>A (p.Glu2195Lys)
|
rs151108325
|
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.7575A>C (p.Glu2525Asp)
|
rs756456332
|
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.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.1240G>A (p.Val414Met)
|
rs1458077668
|
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.55C>T (p.Arg19Cys)
|
rs767379405
|
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.7912T>A (p.Tyr2638Asn)
|
rs749431123
|
0.00002
|
NM_138694.4(PKHD1):c.8356A>G (p.Met2786Val)
|
rs762313489
|
0.00002
|
NM_138694.4(PKHD1):c.8554+5G>C
|
rs1402749750
|
0.00002
|
NM_138694.4(PKHD1):c.10556T>C (p.Leu3519Pro)
|
rs769773637
|
0.00001
|
NM_138694.4(PKHD1):c.10583A>G (p.Asn3528Ser)
|
rs886061612
|
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.11465G>A (p.Gly3822Glu)
|
rs906560282
|
0.00001
|
NM_138694.4(PKHD1):c.11478C>G (p.His3826Gln)
|
rs775097870
|
0.00001
|
NM_138694.4(PKHD1):c.11572A>C (p.Thr3858Pro)
|
rs1180404523
|
0.00001
|
NM_138694.4(PKHD1):c.11786-3C>A
|
rs746467881
|
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.1403G>T (p.Arg468Met)
|
rs765645325
|
0.00001
|
NM_138694.4(PKHD1):c.1594G>A (p.Ala532Thr)
|
rs367837640
|
0.00001
|
NM_138694.4(PKHD1):c.1760G>T (p.Ser587Ile)
|
rs769095204
|
0.00001
|
NM_138694.4(PKHD1):c.2080G>T (p.Ala694Ser)
|
rs1161554442
|
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.2592+6T>C
|
rs746058715
|
0.00001
|
NM_138694.4(PKHD1):c.2593-10A>G
|
rs1050450962
|
0.00001
|
NM_138694.4(PKHD1):c.2695A>G (p.Thr899Ala)
|
rs922828020
|
0.00001
|
NM_138694.4(PKHD1):c.2788A>G (p.Thr930Ala)
|
rs144387673
|
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.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.3536A>G (p.Asn1179Ser)
|
rs747233443
|
0.00001
|
NM_138694.4(PKHD1):c.3547A>G (p.Ile1183Val)
|
rs746874144
|
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.3983T>C (p.Val1328Ala)
|
rs767017869
|
0.00001
|
NM_138694.4(PKHD1):c.4130A>C (p.Asn1377Thr)
|
rs773345692
|
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.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.4918G>A (p.Val1640Ile)
|
rs1396314967
|
0.00001
|
NM_138694.4(PKHD1):c.494A>C (p.Glu165Ala)
|
rs1302500833
|
0.00001
|
NM_138694.4(PKHD1):c.5069C>T (p.Ser1690Leu)
|
rs1801882752
|
0.00001
|
NM_138694.4(PKHD1):c.5123C>A (p.Ser1708Tyr)
|
rs759619749
|
0.00001
|
NM_138694.4(PKHD1):c.56G>A (p.Arg19His)
|
rs1375765328
|
0.00001
|
NM_138694.4(PKHD1):c.6187G>A (p.Ala2063Thr)
|
rs772835579
|
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.722A>G (p.Lys241Arg)
|
rs763591478
|
0.00001
|
NM_138694.4(PKHD1):c.7292A>T (p.Glu2431Val)
|
rs1280884139
|
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.7715A>T (p.His2572Leu)
|
rs765237487
|
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.8012G>A (p.Arg2671Gln)
|
rs778592523
|
0.00001
|
NM_138694.4(PKHD1):c.8080A>G (p.Ser2694Gly)
|
rs775472136
|
0.00001
|
NM_138694.4(PKHD1):c.8140C>T (p.Arg2714Trp)
|
rs754533251
|
0.00001
|
NM_138694.4(PKHD1):c.8212C>G (p.Leu2738Val)
|
rs761723122
|
0.00001
|
NM_138694.4(PKHD1):c.8390A>G (p.Asn2797Ser)
|
rs369941024
|
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.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.9283G>A (p.Val3095Ile)
|
rs768508521
|
0.00001
|
NC_000006.11:g.(?_51483879)_(51491934_?)dup
|
|
|
NC_000006.11:g.(?_51609163)_(51640739_?)dup
|
|
|
NM_138694.4(PKHD1):c.10091T>C (p.Leu3364Pro)
|
|
|
NM_138694.4(PKHD1):c.1009G>A (p.Ala337Thr)
|
|
|
NM_138694.4(PKHD1):c.10105T>C (p.Ser3369Pro)
|
rs2150962340
|
|
NM_138694.4(PKHD1):c.10151A>G (p.Asn3384Ser)
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|
|
NM_138694.4(PKHD1):c.10207T>C (p.Phe3403Leu)
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|
|
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.10252G>C (p.Ala3418Pro)
|
rs776589273
|
|
NM_138694.4(PKHD1):c.10388T>C (p.Leu3463Ser)
|
rs1772516071
|
|
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.10481T>C (p.Leu3494Pro)
|
rs1554183514
|
|
NM_138694.4(PKHD1):c.10522G>A (p.Val3508Ile)
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|
|
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.10657A>G (p.Ile3553Val)
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|
|
NM_138694.4(PKHD1):c.10688T>G (p.Leu3563Trp)
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|
|
NM_138694.4(PKHD1):c.10717G>C (p.Glu3573Gln)
|
rs1772450315
|
|
NM_138694.4(PKHD1):c.10798G>A (p.Glu3600Lys)
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|
|
NM_138694.4(PKHD1):c.10831A>C (p.Ile3611Leu)
|
rs1298906012
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NM_138694.4(PKHD1):c.10837G>A (p.Asp3613Asn)
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|
NM_138694.4(PKHD1):c.10844G>A (p.Arg3615Lys)
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|
NM_138694.4(PKHD1):c.1085T>G (p.Phe362Cys)
|
rs752514286
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NM_138694.4(PKHD1):c.10870A>G (p.Thr3624Ala)
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|
|
NM_138694.4(PKHD1):c.10957A>G (p.Met3653Val)
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|
|
NM_138694.4(PKHD1):c.11006C>T (p.Ser3669Leu)
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|
|
NM_138694.4(PKHD1):c.1102G>A (p.Glu368Lys)
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NM_138694.4(PKHD1):c.11044T>C (p.Ser3682Pro)
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NM_138694.4(PKHD1):c.11078T>G (p.Val3693Gly)
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|
|
NM_138694.4(PKHD1):c.11113G>A (p.Val3705Ile)
|
rs113697159
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NM_138694.4(PKHD1):c.1116C>G (p.Phe372Leu)
|
rs1582038191
|
|
NM_138694.4(PKHD1):c.11178T>A (p.Asn3726Lys)
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|
|
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)
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|
|
NM_138694.4(PKHD1):c.11255G>C (p.Gly3752Ala)
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NM_138694.4(PKHD1):c.11307G>T (p.Glu3769Asp)
|
rs1489049173
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NM_138694.4(PKHD1):c.11310G>C (p.Gln3770His)
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|
|
NM_138694.4(PKHD1):c.11319A>T (p.Arg3773Ser)
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|
NM_138694.4(PKHD1):c.1131T>G (p.Ser377Arg)
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|
NM_138694.4(PKHD1):c.11383G>A (p.Asp3795Asn)
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|
NM_138694.4(PKHD1):c.11387C>T (p.Ser3796Leu)
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|
NM_138694.4(PKHD1):c.11399G>A (p.Gly3800Glu)
|
rs1554169587
|
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NM_138694.4(PKHD1):c.11483T>C (p.Ile3828Thr)
|
|
|
NM_138694.4(PKHD1):c.11533C>T (p.Pro3845Ser)
|
rs548244367
|
|
NM_138694.4(PKHD1):c.11563_11565del (p.Glu3855del)
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|
|
NM_138694.4(PKHD1):c.11668A>G (p.Thr3890Ala)
|
rs2150278411
|
|
NM_138694.4(PKHD1):c.11768A>G (p.Asp3923Gly)
|
rs1561981487
|
|
NM_138694.4(PKHD1):c.11828C>G (p.Pro3943Arg)
|
rs2150241950
|
|
NM_138694.4(PKHD1):c.11863G>T (p.Val3955Phe)
|
rs769223833
|
|
NM_138694.4(PKHD1):c.11888A>T (p.Glu3963Val)
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|
NM_138694.4(PKHD1):c.11896G>A (p.Ala3966Thr)
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|
NM_138694.4(PKHD1):c.11935G>A (p.Gly3979Arg)
|
rs2150240920
|
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NM_138694.4(PKHD1):c.12014A>C (p.Gln4005Pro)
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|
NM_138694.4(PKHD1):c.12120A>C (p.Gln4040His)
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|
NM_138694.4(PKHD1):c.12142_12143inv (p.Gln4048Ter)
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|
|
NM_138694.4(PKHD1):c.1242_1250del (p.Ala415_Ile417del)
|
rs1554217913
|
|
NM_138694.4(PKHD1):c.1258G>A (p.Gly420Ser)
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|
|
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.1555G>A (p.Asp519Asn)
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|
|
NM_138694.4(PKHD1):c.1600C>A (p.Leu534Met)
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|
NM_138694.4(PKHD1):c.1714G>A (p.Asp572Asn)
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|
NM_138694.4(PKHD1):c.1817G>A (p.Arg606Gln)
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|
|
NM_138694.4(PKHD1):c.1940G>A (p.Ser647Asn)
|
rs1554214687
|
|
NM_138694.4(PKHD1):c.1946C>T (p.Thr649Met)
|
|
|
NM_138694.4(PKHD1):c.1953_1964delCAGCCCCGAGAG (p.Ser652_Ser655del)
|
|
|
NM_138694.4(PKHD1):c.1975G>A (p.Asp659Asn)
|
|
|
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>T (p.Pro70Ser)
|
rs781485593
|
|
NM_138694.4(PKHD1):c.2120T>G (p.Ile707Ser)
|
rs2128203303
|
|
NM_138694.4(PKHD1):c.2165C>T (p.Ala722Val)
|
|
|
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.2483A>G (p.Tyr828Cys)
|
rs781698219
|
|
NM_138694.4(PKHD1):c.2516A>G (p.Asp839Gly)
|
|
|
NM_138694.4(PKHD1):c.2593-3C>T
|
rs1290670072
|
|
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.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.2834A>T (p.Asn945Ile)
|
|
|
NM_138694.4(PKHD1):c.2957A>T (p.Asp986Val)
|
rs957113162
|
|
NM_138694.4(PKHD1):c.3016A>G (p.Ile1006Val)
|
|
|
NM_138694.4(PKHD1):c.3167C>T (p.Ser1056Leu)
|
|
|
NM_138694.4(PKHD1):c.3178A>T (p.Asn1060Tyr)
|
|
|
NM_138694.4(PKHD1):c.3289C>T (p.Pro1097Ser)
|
|
|
NM_138694.4(PKHD1):c.3311C>T (p.Ser1104Phe)
|
rs769085607
|
|
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.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.3695T>G (p.Val1232Gly)
|
|
|
NM_138694.4(PKHD1):c.3701A>G (p.Asn1234Ser)
|
rs1802145665
|
|
NM_138694.4(PKHD1):c.3920A>T (p.Gln1307Leu)
|
|
|
NM_138694.4(PKHD1):c.4091A>G (p.Tyr1364Cys)
|
|
|
NM_138694.4(PKHD1):c.40C>G (p.Leu14Val)
|
|
|
NM_138694.4(PKHD1):c.4142T>G (p.Val1381Gly)
|
|
|
NM_138694.4(PKHD1):c.415G>A (p.Val139Ile)
|
|
|
NM_138694.4(PKHD1):c.4168C>G (p.Arg1390Gly)
|
|
|
NM_138694.4(PKHD1):c.4217T>C (p.Ile1406Thr)
|
rs1562166222
|
|
NM_138694.4(PKHD1):c.4244A>T (p.Asn1415Ile)
|
|
|
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.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.4505T>A (p.Val1502Glu)
|
rs1581806804
|
|
NM_138694.4(PKHD1):c.454C>G (p.Leu152Val)
|
rs2128234015
|
|
NM_138694.4(PKHD1):c.4639C>T (p.Pro1547Ser)
|
|
|
NM_138694.4(PKHD1):c.4792C>G (p.Leu1598Val)
|
rs1562162277
|
|
NM_138694.4(PKHD1):c.4880T>C (p.Val1627Ala)
|
|
|
NM_138694.4(PKHD1):c.4885A>G (p.Thr1629Ala)
|
|
|
NM_138694.4(PKHD1):c.4888G>A (p.Gly1630Arg)
|
|
|
NM_138694.4(PKHD1):c.4973C>T (p.Pro1658Leu)
|
rs1554198203
|
|
NM_138694.4(PKHD1):c.4990T>C (p.Ser1664Pro)
|
|
|
NM_138694.4(PKHD1):c.4999G>A (p.Asp1667Asn)
|
|
|
NM_138694.4(PKHD1):c.5012C>G (p.Thr1671Ser)
|
rs1313759171
|
|
NM_138694.4(PKHD1):c.5023G>A (p.Ala1675Thr)
|
rs1801889887
|
|
NM_138694.4(PKHD1):c.5090G>A (p.Gly1697Asp)
|
rs752432638
|
|
NM_138694.4(PKHD1):c.5094C>A (p.Asn1698Lys)
|
|
|
NM_138694.4(PKHD1):c.50C>T (p.Ala17Val)
|
|
|
NM_138694.4(PKHD1):c.5146G>T (p.Val1716Phe)
|
rs751058491
|
|
NM_138694.4(PKHD1):c.5156A>G (p.Tyr1719Cys)
|
|
|
NM_138694.4(PKHD1):c.5171G>T (p.Gly1724Val)
|
|
|
NM_138694.4(PKHD1):c.5236G>A (p.Gly1746Ser)
|
|
|
NM_138694.4(PKHD1):c.5236G>C (p.Gly1746Arg)
|
rs745387993
|
|
NM_138694.4(PKHD1):c.5263G>A (p.Val1755Met)
|
rs1201402132
|
|
NM_138694.4(PKHD1):c.5273C>T (p.Ala1758Val)
|
|
|
NM_138694.4(PKHD1):c.5356A>G (p.Ser1786Gly)
|
|
|
NM_138694.4(PKHD1):c.5372C>A (p.Pro1791His)
|
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.5473A>G (p.Met1825Val)
|
|
|
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.5642C>A (p.Ser1881Tyr)
|
rs864622533
|
|
NM_138694.4(PKHD1):c.5660A>C (p.Glu1887Ala)
|
|
|
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>T (p.Ser1929Phe)
|
rs1791759592
|
|
NM_138694.4(PKHD1):c.5885T>G (p.Ile1962Ser)
|
rs756573585
|
|
NM_138694.4(PKHD1):c.5959G>T (p.Ala1987Ser)
|
rs375949362
|
|
NM_138694.4(PKHD1):c.5989C>T (p.Arg1997Trp)
|
|
|
NM_138694.4(PKHD1):c.5996G>C (p.Gly1999Ala)
|
rs2127768810
|
|
NM_138694.4(PKHD1):c.6038T>C (p.Leu2013Pro)
|
rs1554144276
|
|
NM_138694.4(PKHD1):c.6122G>T (p.Gly2041Val)
|
rs2127668227
|
|
NM_138694.4(PKHD1):c.6170C>A (p.Ala2057Asp)
|
|
|
NM_138694.4(PKHD1):c.6226G>A (p.Val2076Ile)
|
|
|
NM_138694.4(PKHD1):c.6360G>C (p.Trp2120Cys)
|
rs1440253606
|
|
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.6635C>G (p.Ala2212Gly)
|
|
|
NM_138694.4(PKHD1):c.664A>C (p.Ile222Leu)
|
rs369925690
|
|
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.6771T>G (p.Asn2257Lys)
|
rs1315333212
|
|
NM_138694.4(PKHD1):c.6777C>G (p.Phe2259Leu)
|
|
|
NM_138694.4(PKHD1):c.6869G>T (p.Trp2290Leu)
|
|
|
NM_138694.4(PKHD1):c.6919G>C (p.Gly2307Arg)
|
rs765874902
|
|
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.700A>G (p.Lys234Glu)
|
rs2128229167
|
|
NM_138694.4(PKHD1):c.712A>G (p.Met238Val)
|
|
|
NM_138694.4(PKHD1):c.7171C>G (p.Leu2391Val)
|
|
|
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)
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NM_138694.4(PKHD1):c.7305T>G (p.Asn2435Lys)
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NM_138694.4(PKHD1):c.7350+5G>A
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rs1554287798
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NM_138694.4(PKHD1):c.7392A>G (p.Arg2464=)
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rs1775822734
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NM_138694.4(PKHD1):c.7429T>A (p.Phe2477Ile)
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rs2151777825
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NM_138694.4(PKHD1):c.7597G>C (p.Gly2533Arg)
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rs1246936197
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NM_138694.4(PKHD1):c.7673G>A (p.Arg2558Gln)
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rs369677008
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NM_138694.4(PKHD1):c.7673G>C (p.Arg2558Pro)
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NM_138694.4(PKHD1):c.7684G>A (p.Gly2562Ser)
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rs1358906875
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NM_138694.4(PKHD1):c.7714C>G (p.His2572Asp)
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NM_138694.4(PKHD1):c.7750G>A (p.Val2584Ile)
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rs748895723
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NM_138694.4(PKHD1):c.776C>T (p.Ser259Leu)
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rs1160054242
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NM_138694.4(PKHD1):c.778+3A>G
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NM_138694.4(PKHD1):c.7811G>A (p.Arg2604His)
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NM_138694.4(PKHD1):c.7867T>C (p.Tyr2623His)
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NM_138694.4(PKHD1):c.787T>C (p.Ser263Pro)
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NM_138694.4(PKHD1):c.788C>T (p.Ser263Phe)
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NM_138694.4(PKHD1):c.8023T>A (p.Ser2675Thr)
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NM_138694.4(PKHD1):c.8090G>C (p.Arg2697Thr)
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NM_138694.4(PKHD1):c.8110T>A (p.Ser2704Thr)
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NM_138694.4(PKHD1):c.8207G>C (p.Trp2736Ser)
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rs1562410452
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NM_138694.4(PKHD1):c.8258A>G (p.Asn2753Ser)
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rs749313015
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NM_138694.4(PKHD1):c.8270C>G (p.Pro2757Arg)
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rs1554263087
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NM_138694.4(PKHD1):c.8282A>T (p.Asp2761Val)
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rs2151511198
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NM_138694.4(PKHD1):c.8299C>T (p.Pro2767Ser)
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rs764600547
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NM_138694.4(PKHD1):c.8332C>T (p.Pro2778Ser)
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NM_138694.4(PKHD1):c.8345G>A (p.Gly2782Glu)
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NM_138694.4(PKHD1):c.8351A>G (p.Tyr2784Cys)
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rs1793710520
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NM_138694.4(PKHD1):c.8363C>G (p.Thr2788Ser)
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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.8470C>G (p.Gln2824Glu)
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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.8683A>G (p.Lys2895Glu)
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rs1786704837
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NM_138694.4(PKHD1):c.8789G>A (p.Arg2930Gln)
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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.8894G>A (p.Cys2965Tyr)
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rs1786406368
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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.9044T>G (p.Ile3015Ser)
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rs2150987139
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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.9269A>G (p.Asn3090Ser)
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rs1785518946
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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.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.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.961A>G (p.Thr321Ala)
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rs2128221798
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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.9820A>G (p.Lys3274Glu)
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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.9973T>C (p.Phe3325Leu)
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rs199924729
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