NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala)
|
rs147222255
|
0.00223
|
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)
|
rs137852944
|
0.00048
|
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys)
|
rs200179145
|
0.00041
|
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg)
|
rs149798764
|
0.00026
|
NM_138694.4(PKHD1):c.9662C>T (p.Pro3221Leu)
|
rs145141656
|
0.00018
|
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu)
|
rs201105958
|
0.00009
|
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val)
|
rs369925690
|
0.00008
|
NM_138694.4(PKHD1):c.5912G>A (p.Gly1971Asp)
|
rs180675584
|
0.00006
|
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr)
|
rs200511261
|
0.00005
|
NM_138694.4(PKHD1):c.11665+1G>A
|
rs759851475
|
0.00004
|
NM_138694.4(PKHD1):c.5750A>G (p.Gln1917Arg)
|
rs1412045164
|
0.00004
|
NM_138694.4(PKHD1):c.6900C>T (p.Asn2300=)
|
rs776060304
|
0.00004
|
NM_138694.4(PKHD1):c.10136del (p.Thr3379fs)
|
rs765209037
|
0.00003
|
NM_138694.4(PKHD1):c.1123C>T (p.Arg375Trp)
|
rs376040501
|
0.00003
|
NM_138694.4(PKHD1):c.11611T>C (p.Trp3871Arg)
|
rs754626014
|
0.00003
|
NM_138694.4(PKHD1):c.1774C>T (p.Arg592Ter)
|
rs779050294
|
0.00003
|
NM_138694.4(PKHD1):c.2216C>T (p.Pro739Leu)
|
rs758352210
|
0.00003
|
NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala)
|
rs199568593
|
0.00003
|
NM_138694.4(PKHD1):c.3367G>A (p.Gly1123Ser)
|
rs142107837
|
0.00003
|
NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu)
|
rs367707903
|
0.00003
|
NM_138694.4(PKHD1):c.353del (p.Ser118fs)
|
rs398124483
|
0.00003
|
NM_138694.4(PKHD1):c.6793C>T (p.His2265Tyr)
|
rs773880430
|
0.00003
|
NM_138694.4(PKHD1):c.7430T>G (p.Phe2477Cys)
|
rs1366295189
|
0.00003
|
NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter)
|
rs181208607
|
0.00003
|
NM_138694.4(PKHD1):c.9107T>G (p.Val3036Gly)
|
rs893497345
|
0.00003
|
NM_138694.4(PKHD1):c.983G>A (p.Arg328Gln)
|
rs770494581
|
0.00003
|
NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys)
|
rs148617572
|
0.00002
|
NM_138694.4(PKHD1):c.11747C>G (p.Ser3916Ter)
|
rs760426769
|
0.00002
|
NM_138694.4(PKHD1):c.2854G>A (p.Gly952Arg)
|
rs773136605
|
0.00002
|
NM_138694.4(PKHD1):c.390+1G>T
|
rs752327566
|
0.00002
|
NM_138694.4(PKHD1):c.4199C>T (p.Ser1400Leu)
|
rs191201723
|
0.00002
|
NM_138694.4(PKHD1):c.5360G>T (p.Cys1787Phe)
|
rs367970695
|
0.00002
|
NM_138694.4(PKHD1):c.9059T>C (p.Leu3020Pro)
|
rs757148837
|
0.00002
|
NM_138694.4(PKHD1):c.106A>G (p.Thr36Ala)
|
rs758858303
|
0.00001
|
NM_138694.4(PKHD1):c.11284C>A (p.Pro3762Thr)
|
rs1229349983
|
0.00001
|
NM_138694.4(PKHD1):c.11398+2T>C
|
rs754038777
|
0.00001
|
NM_138694.4(PKHD1):c.11524C>T (p.Arg3842Ter)
|
rs746471701
|
0.00001
|
NM_138694.4(PKHD1):c.11695C>T (p.Gln3899Ter)
|
rs1295732689
|
0.00001
|
NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter)
|
rs144193508
|
0.00001
|
NM_138694.4(PKHD1):c.1409G>T (p.Gly470Val)
|
rs776845008
|
0.00001
|
NM_138694.4(PKHD1):c.1458C>A (p.Tyr486Ter)
|
rs786204749
|
0.00001
|
NM_138694.4(PKHD1):c.1480C>T (p.Arg494Ter)
|
rs754392766
|
0.00001
|
NM_138694.4(PKHD1):c.1602+2T>C
|
rs1479728870
|
0.00001
|
NM_138694.4(PKHD1):c.1694-2A>G
|
rs1807619777
|
0.00001
|
NM_138694.4(PKHD1):c.1748G>A (p.Cys583Tyr)
|
rs369292828
|
0.00001
|
NM_138694.4(PKHD1):c.1964+1G>T
|
rs1385712943
|
0.00001
|
NM_138694.4(PKHD1):c.2167C>T (p.Arg723Cys)
|
rs794727366
|
0.00001
|
NM_138694.4(PKHD1):c.2279G>A (p.Arg760His)
|
rs745770404
|
0.00001
|
NM_138694.4(PKHD1):c.2638C>T (p.Arg880Cys)
|
rs752646435
|
0.00001
|
NM_138694.4(PKHD1):c.2813del (p.Tyr938fs)
|
rs1057517394
|
0.00001
|
NM_138694.4(PKHD1):c.2821+2T>C
|
rs1394431107
|
0.00001
|
NM_138694.4(PKHD1):c.2936C>T (p.Thr979Ile)
|
rs747895516
|
0.00001
|
NM_138694.4(PKHD1):c.2980C>T (p.Arg994Trp)
|
rs757854282
|
0.00001
|
NM_138694.4(PKHD1):c.3229-2del
|
rs1057516283
|
0.00001
|
NM_138694.4(PKHD1):c.3383T>C (p.Ile1128Thr)
|
rs78624439
|
0.00001
|
NM_138694.4(PKHD1):c.3747T>G (p.Cys1249Trp)
|
rs748540413
|
0.00001
|
NM_138694.4(PKHD1):c.428A>G (p.Tyr143Cys)
|
rs141093030
|
0.00001
|
NM_138694.4(PKHD1):c.4292G>A (p.Cys1431Tyr)
|
rs753307105
|
0.00001
|
NM_138694.4(PKHD1):c.5513A>G (p.Tyr1838Cys)
|
rs777999875
|
0.00001
|
NM_138694.4(PKHD1):c.5624T>G (p.Val1875Gly)
|
rs202016058
|
0.00001
|
NM_138694.4(PKHD1):c.5869G>A (p.Asp1957Asn)
|
rs200929620
|
0.00001
|
NM_138694.4(PKHD1):c.603-2A>G
|
rs757521428
|
0.00001
|
NM_138694.4(PKHD1):c.6074A>G (p.Tyr2025Cys)
|
rs1554144226
|
0.00001
|
NM_138694.4(PKHD1):c.667G>A (p.Gly223Ser)
|
rs749454235
|
0.00001
|
NM_138694.4(PKHD1):c.6808+1G>T
|
rs1217968843
|
0.00001
|
NM_138694.4(PKHD1):c.6865+1G>A
|
rs372573190
|
0.00001
|
NM_138694.4(PKHD1):c.707+1G>A
|
rs748365248
|
0.00001
|
NM_138694.4(PKHD1):c.7280T>C (p.Ile2427Thr)
|
rs398124492
|
0.00001
|
NM_138694.4(PKHD1):c.8068T>C (p.Trp2690Arg)
|
rs886061616
|
0.00001
|
NM_138694.4(PKHD1):c.8318T>G (p.Val2773Gly)
|
rs1471306684
|
0.00001
|
NM_138694.4(PKHD1):c.8408G>A (p.Cys2803Tyr)
|
rs398124496
|
0.00001
|
NM_138694.4(PKHD1):c.8411T>A (p.Met2804Lys)
|
rs794727759
|
0.00001
|
NM_138694.4(PKHD1):c.8554+1G>A
|
rs1790925351
|
0.00001
|
NM_138694.4(PKHD1):c.8555-2A>C
|
rs1020621286
|
0.00001
|
NM_138694.4(PKHD1):c.881-1G>A
|
rs1554220431
|
0.00001
|
NM_138694.4(PKHD1):c.8824C>T (p.Arg2942Ter)
|
rs398124500
|
0.00001
|
NM_138694.4(PKHD1):c.8935C>T (p.Arg2979Ter)
|
rs765020336
|
0.00001
|
NM_138694.4(PKHD1):c.9146A>G (p.His3049Arg)
|
rs367678592
|
0.00001
|
NM_138694.4(PKHD1):c.9152T>C (p.Ile3051Thr)
|
rs1374086784
|
0.00001
|
NM_138694.4(PKHD1):c.9296C>A (p.Ser3099Ter)
|
rs757946548
|
0.00001
|
NM_138694.4(PKHD1):c.9319C>T (p.Arg3107Ter)
|
rs786204688
|
0.00001
|
NM_138694.4(PKHD1):c.931A>G (p.Thr311Ala)
|
rs890884615
|
0.00001
|
NM_138694.4(PKHD1):c.9371A>G (p.His3124Arg)
|
rs373241537
|
0.00001
|
NM_138694.4(PKHD1):c.9464A>G (p.Tyr3155Cys)
|
rs957419550
|
0.00001
|
NM_138694.4(PKHD1):c.9623C>T (p.Thr3208Ile)
|
rs1263208576
|
0.00001
|
NM_138694.4(PKHD1):c.977-1G>A
|
rs1808864196
|
0.00001
|
NM_138694.4(PKHD1):c.977G>T (p.Gly326Val)
|
rs778329699
|
0.00001
|
NM_138694.4(PKHD1):c.9998G>C (p.Arg3333Thr)
|
rs1057524563
|
0.00001
|
NC_000006.11:g.(51514019_51523749)_(51524768_51609182)del
|
|
|
NC_000006.11:g.(51712769_51720690)_(51777375_51798907)dup
|
|
|
NC_000006.11:g.(51752044_51768394)_(51774273_51776596)del
|
|
|
NC_000006.11:g.(51924841_51927316)_(51927459_51929752)del
|
|
|
NC_000006.11:g.(?_51483869)_(51524777_?)del
|
|
|
NC_000006.11:g.(?_51491785)_(51609350_?)del
|
|
|
NC_000006.11:g.(?_51491828)_(51492507_?)del
|
|
|
NC_000006.11:g.(?_51497353)_(51524777_?)del
|
|
|
NC_000006.11:g.(?_51518816)_(51523750_?)del
|
|
|
NC_000006.11:g.(?_51609173)_(51611697_?)del
|
|
|
NC_000006.11:g.(?_51747238)_(51777384_?)dup
|
|
|
NC_000006.11:g.(?_51750655)_(51768850_?)dup
|
|
|
NC_000006.11:g.(?_51751911)_(51799166_?)dup
|
|
|
NC_000006.11:g.(?_51768385)_(51799130_?)dup
|
|
|
NC_000006.11:g.(?_51777144)_(51777394_?)dup
|
|
|
NC_000006.11:g.(?_51798898)_(51824834_?)dup
|
|
|
NC_000006.11:g.(?_51875087)_(51882447_?)dup
|
|
|
NC_000006.11:g.(?_51917864)_(51924850_?)dup
|
|
|
NC_000006.12:g.(?_51855873)_(51912596_?)dup
|
|
|
NM_138694.4(PKHD1):c.1001T>A (p.Val334Asp)
|
rs1384539153
|
|
NM_138694.4(PKHD1):c.10031T>G (p.Leu3344Ter)
|
rs398124475
|
|
NM_138694.4(PKHD1):c.10058T>A (p.Leu3353His)
|
rs777377414
|
|
NM_138694.4(PKHD1):c.10157-1G>T
|
rs2150418842
|
|
NM_138694.4(PKHD1):c.10157-2A>G
|
rs2150418852
|
|
NM_138694.4(PKHD1):c.10180T>C (p.Cys3394Arg)
|
rs2533458266
|
|
NM_138694.4(PKHD1):c.10181G>A (p.Cys3394Tyr)
|
rs1772559884
|
|
NM_138694.4(PKHD1):c.10226A>T (p.Asp3409Val)
|
rs754808508
|
|
NM_138694.4(PKHD1):c.1032_1033del (p.Glu345fs)
|
rs1446729264
|
|
NM_138694.4(PKHD1):c.10350C>A (p.Cys3450Ter)
|
rs765652131
|
|
NM_138694.4(PKHD1):c.10388T>A (p.Leu3463Ter)
|
rs1772516071
|
|
NM_138694.4(PKHD1):c.10414T>G (p.Cys3472Gly)
|
rs1772510920
|
|
NM_138694.4(PKHD1):c.10452dup (p.Leu3485fs)
|
rs771623148
|
|
NM_138694.4(PKHD1):c.10628_10635del (p.Leu3543fs)
|
rs752889346
|
|
NM_138694.4(PKHD1):c.10744G>T (p.Glu3582Ter)
|
rs148300854
|
|
NM_138694.4(PKHD1):c.10859_10860del (p.Arg3620fs)
|
rs1562040783
|
|
NM_138694.4(PKHD1):c.1095G>A (p.Trp365Ter)
|
rs1554219429
|
|
NM_138694.4(PKHD1):c.11074C>T (p.Arg3692Ter)
|
rs769559267
|
|
NM_138694.4(PKHD1):c.11174+2T>C
|
rs2150410774
|
|
NM_138694.4(PKHD1):c.11174_11175-4798del
|
|
|
NM_138694.4(PKHD1):c.11175-2A>G
|
rs2533306617
|
|
NM_138694.4(PKHD1):c.1118+1G>T
|
rs1808826795
|
|
NM_138694.4(PKHD1):c.11237T>C (p.Leu3746Pro)
|
rs1320401077
|
|
NM_138694.4(PKHD1):c.11285C>T (p.Pro3762Leu)
|
rs2533303930
|
|
NM_138694.4(PKHD1):c.11310+1G>C
|
rs1365407882
|
|
NM_138694.4(PKHD1):c.11452G>T (p.Val3818Phe)
|
rs1385935333
|
|
NM_138694.4(PKHD1):c.11507-1G>A
|
rs2150304734
|
|
NM_138694.4(PKHD1):c.11507-2A>T
|
rs2533096592
|
|
NM_138694.4(PKHD1):c.1160A>T (p.Asn387Ile)
|
rs2533402360
|
|
NM_138694.4(PKHD1):c.11666-593_11752del
|
rs2150277532
|
|
NM_138694.4(PKHD1):c.1199T>C (p.Leu400Ser)
|
rs1808425655
|
|
NM_138694.4(PKHD1):c.1233+1G>A
|
rs886061623
|
|
NM_138694.4(PKHD1):c.1242_1250del (p.Ala415_Ile417del)
|
rs1554217913
|
|
NM_138694.4(PKHD1):c.126del (p.Phe42fs)
|
rs760586271
|
|
NM_138694.4(PKHD1):c.1338del (p.Leu447fs)
|
rs1582013246
|
|
NM_138694.4(PKHD1):c.1397G>C (p.Gly466Ala)
|
rs750730042
|
|
NM_138694.4(PKHD1):c.1418T>G (p.Ile473Ser)
|
rs2533368902
|
|
NM_138694.4(PKHD1):c.1472A>C (p.His491Pro)
|
rs886039888
|
|
NM_138694.4(PKHD1):c.1513-1G>A
|
rs2533343847
|
|
NM_138694.4(PKHD1):c.1554G>A (p.Trp518Ter)
|
rs1582002018
|
|
NM_138694.4(PKHD1):c.1693+1G>T
|
rs2128209217
|
|
NM_138694.4(PKHD1):c.1693+2T>C
|
rs1581999471
|
|
NM_138694.4(PKHD1):c.1694-1G>C
|
rs398124477
|
|
NM_138694.4(PKHD1):c.1699G>T (p.Glu567Ter)
|
rs1581992845
|
|
NM_138694.4(PKHD1):c.1830T>A (p.Tyr610Ter)
|
rs749293235
|
|
NM_138694.4(PKHD1):c.1836+1G>A
|
rs780898021
|
|
NM_138694.4(PKHD1):c.1836+1G>C
|
|
|
NM_138694.4(PKHD1):c.1846G>A (p.Ala616Thr)
|
rs769867380
|
|
NM_138694.4(PKHD1):c.1964+2T>C
|
rs1453646167
|
|
NM_138694.4(PKHD1):c.1965-2A>T
|
rs2128203974
|
|
NM_138694.4(PKHD1):c.1980C>G (p.Cys660Trp)
|
rs1554214097
|
|
NM_138694.4(PKHD1):c.2017del (p.Asp673fs)
|
rs1581974348
|
|
NM_138694.4(PKHD1):c.2141-1G>A
|
rs2128197058
|
|
NM_138694.4(PKHD1):c.2170C>T (p.Pro724Ser)
|
rs1806602099
|
|
NM_138694.4(PKHD1):c.2172del (p.Gly726fs)
|
rs1806601043
|
|
NM_138694.4(PKHD1):c.2180dup (p.Asn727fs)
|
rs1554212326
|
|
NM_138694.4(PKHD1):c.2264C>T (p.Pro755Leu)
|
rs1057517158
|
|
NM_138694.4(PKHD1):c.2269A>C (p.Ile757Leu)
|
rs777183511
|
|
NM_138694.4(PKHD1):c.2280-2A>G
|
rs780675990
|
|
NM_138694.4(PKHD1):c.2383C>T (p.Gln795Ter)
|
|
|
NM_138694.4(PKHD1):c.2524A>C (p.Thr842Pro)
|
rs1203260419
|
|
NM_138694.4(PKHD1):c.2542T>A (p.Trp848Arg)
|
rs1466595320
|
|
NM_138694.4(PKHD1):c.2592+1G>C
|
rs758812102
|
|
NM_138694.4(PKHD1):c.2592+1G>T
|
rs758812102
|
|
NM_138694.4(PKHD1):c.2593-1G>A
|
|
|
NM_138694.4(PKHD1):c.2639G>C (p.Arg880Pro)
|
rs886042298
|
|
NM_138694.4(PKHD1):c.2715+1G>T
|
rs1554209188
|
|
NM_138694.4(PKHD1):c.2747A>C (p.His916Pro)
|
rs1805300035
|
|
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp)
|
rs370277502
|
|
NM_138694.4(PKHD1):c.281+1G>T
|
rs1582154630
|
|
NM_138694.4(PKHD1):c.2810G>A (p.Trp937Ter)
|
rs786204707
|
|
NM_138694.4(PKHD1):c.282-2A>T
|
rs1554227278
|
|
NM_138694.4(PKHD1):c.2821+1G>A
|
|
|
NM_138694.4(PKHD1):c.2822-1G>C
|
rs1554208257
|
|
NM_138694.4(PKHD1):c.2855G>A (p.Gly952Glu)
|
rs2533050685
|
|
NM_138694.4(PKHD1):c.2946del (p.Cys983fs)
|
rs1581910835
|
|
NM_138694.4(PKHD1):c.3098-1G>A
|
rs2128169165
|
|
NM_138694.4(PKHD1):c.3098-2A>T
|
rs1013567047
|
|
NM_138694.4(PKHD1):c.3118del (p.Arg1040fs)
|
rs1803834984
|
|
NM_138694.4(PKHD1):c.3157G>C (p.Gly1053Arg)
|
rs1322231013
|
|
NM_138694.4(PKHD1):c.3158_3159del (p.Gly1053fs)
|
rs1554204054
|
|
NM_138694.4(PKHD1):c.3229-1G>A
|
rs2532875684
|
|
NM_138694.4(PKHD1):c.3229-2A>C
|
rs1057516872
|
|
NM_138694.4(PKHD1):c.3287T>C (p.Leu1096Pro)
|
rs1803322601
|
|
NM_138694.4(PKHD1):c.3365-3C>T
|
rs2128153381
|
|
NM_138694.4(PKHD1):c.340C>T (p.Gln114Ter)
|
rs1554227215
|
|
NM_138694.4(PKHD1):c.3561-1G>A
|
rs1802457333
|
|
NM_138694.4(PKHD1):c.3762_3763insG (p.Pro1255fs)
|
rs1802132538
|
|
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs)
|
rs746972457
|
|
NM_138694.4(PKHD1):c.390+1G>A
|
rs752327566
|
|
NM_138694.4(PKHD1):c.3940del (p.Ser1314fs)
|
rs1057517273
|
|
NM_138694.4(PKHD1):c.4147C>T (p.Gln1383Ter)
|
rs1226122841
|
|
NM_138694.4(PKHD1):c.4165C>A (p.Pro1389Thr)
|
rs2128144732
|
|
NM_138694.4(PKHD1):c.4187C>T (p.Pro1396Leu)
|
rs1581809655
|
|
NM_138694.4(PKHD1):c.4209_4232del (p.Gly1404_Gly1411del)
|
rs1802029655
|
|
NM_138694.4(PKHD1):c.4220T>C (p.Leu1407Pro)
|
rs1464962854
|
|
NM_138694.4(PKHD1):c.4220T>G (p.Leu1407Arg)
|
rs1464962854
|
|
NM_138694.4(PKHD1):c.4292G>T (p.Cys1431Phe)
|
rs753307105
|
|
NM_138694.4(PKHD1):c.4293T>G (p.Cys1431Trp)
|
rs2532717700
|
|
NM_138694.4(PKHD1):c.4322_4323dup (p.Leu1442fs)
|
rs1802018167
|
|
NM_138694.4(PKHD1):c.449-1G>A
|
rs2533630386
|
|
NM_138694.4(PKHD1):c.458T>C (p.Ile153Thr)
|
rs1810936262
|
|
NM_138694.4(PKHD1):c.51A>G (p.Ala17=)
|
rs2533801001
|
|
NM_138694.4(PKHD1):c.53-1G>A
|
rs775511838
|
|
NM_138694.4(PKHD1):c.53-3C>A
|
rs1021843705
|
|
NM_138694.4(PKHD1):c.5336A>G (p.Asn1779Ser)
|
rs1801599945
|
|
NM_138694.4(PKHD1):c.5380+1G>C
|
rs1354626305
|
|
NM_138694.4(PKHD1):c.5380+2T>G
|
rs1801591463
|
|
NM_138694.4(PKHD1):c.5381-7_5385del
|
rs2128130561
|
|
NM_138694.4(PKHD1):c.5381-9T>G
|
rs1332944383
|
|
NM_138694.4(PKHD1):c.5441dup (p.His1814fs)
|
rs908880474
|
|
NM_138694.4(PKHD1):c.5464del (p.Thr1822fs)
|
rs1562140771
|
|
NM_138694.4(PKHD1):c.5521G>A (p.Glu1841Lys)
|
rs913487671
|
|
NM_138694.4(PKHD1):c.560G>A (p.Trp187Ter)
|
rs1810710453
|
|
NM_138694.4(PKHD1):c.561G>A (p.Trp187Ter)
|
rs2128231878
|
|
NM_138694.4(PKHD1):c.573C>A (p.Cys191Ter)
|
rs1397593913
|
|
NM_138694.4(PKHD1):c.5751+1G>A
|
rs775638588
|
|
NM_138694.4(PKHD1):c.5752-1G>C
|
rs2537382687
|
|
NM_138694.4(PKHD1):c.5752-2A>G
|
rs1057516407
|
|
NM_138694.4(PKHD1):c.5761_5765del (p.Ser1921fs)
|
rs1791765505
|
|
NM_138694.4(PKHD1):c.5776del (p.Arg1926fs)
|
rs1791763088
|
|
NM_138694.4(PKHD1):c.5879_5880del (p.Thr1960fs)
|
rs771180444
|
|
NM_138694.4(PKHD1):c.5895_5896insAC (p.Leu1966fs)
|
rs1554162725
|
|
NM_138694.4(PKHD1):c.5903T>G (p.Ile1968Ser)
|
rs1791737049
|
|
NM_138694.4(PKHD1):c.5909-2del
|
rs1334913120
|
|
NM_138694.4(PKHD1):c.5984A>G (p.Glu1995Gly)
|
rs1554144359
|
|
NM_138694.4(PKHD1):c.602+1G>A
|
rs1554223950
|
|
NM_138694.4(PKHD1):c.602+2T>A
|
rs2128231798
|
|
NM_138694.4(PKHD1):c.6091del (p.Ala2031fs)
|
rs1057516804
|
|
NM_138694.4(PKHD1):c.6121+1G>T
|
rs2127767937
|
|
NM_138694.4(PKHD1):c.6296_6297del (p.Val2099fs)
|
rs910497248
|
|
NM_138694.4(PKHD1):c.6332+1G>A
|
rs1042247087
|
|
NM_138694.4(PKHD1):c.6333-1G>C
|
|
|
NM_138694.4(PKHD1):c.645C>A (p.Cys215Ter)
|
rs557437764
|
|
NM_138694.4(PKHD1):c.6491-2A>G
|
rs2127653183
|
|
NM_138694.4(PKHD1):c.662A>G (p.Tyr221Cys)
|
rs1554223332
|
|
NM_138694.4(PKHD1):c.664A>C (p.Ile222Leu)
|
rs369925690
|
|
NM_138694.4(PKHD1):c.6683-2A>C
|
rs2127637373
|
|
NM_138694.4(PKHD1):c.6761T>G (p.Val2254Gly)
|
rs2536571512
|
|
NM_138694.4(PKHD1):c.6809-2A>G
|
rs1340926191
|
|
NM_138694.4(PKHD1):c.6809-2A>T
|
rs1340926191
|
|
NM_138694.4(PKHD1):c.6866-16_6866del
|
rs1554299291
|
|
NM_138694.4(PKHD1):c.6866-1G>C
|
rs1781631365
|
|
NM_138694.4(PKHD1):c.6866-1G>T
|
rs1781631365
|
|
NM_138694.4(PKHD1):c.6866-2A>T
|
rs775684274
|
|
NM_138694.4(PKHD1):c.6866-2_6866-1delinsGA
|
rs1562581286
|
|
NM_138694.4(PKHD1):c.6893G>T (p.Arg2298Ile)
|
rs1781623229
|
|
NM_138694.4(PKHD1):c.6996+2del
|
rs2127621751
|
|
NM_138694.4(PKHD1):c.6996+4A>T
|
rs781173081
|
|
NM_138694.4(PKHD1):c.707+2T>C
|
rs1554222939
|
|
NM_138694.4(PKHD1):c.7215+1G>T
|
rs866054011
|
|
NM_138694.4(PKHD1):c.7264T>G (p.Cys2422Gly)
|
rs201881567
|
|
NM_138694.4(PKHD1):c.7350+1G>T
|
rs1057516588
|
|
NM_138694.4(PKHD1):c.7350+2T>A
|
rs2536177478
|
|
NM_138694.4(PKHD1):c.7486+1G>T
|
rs1554282419
|
|
NM_138694.4(PKHD1):c.7592T>C (p.Leu2531Pro)
|
rs1775360219
|
|
NM_138694.4(PKHD1):c.764A>G (p.Tyr255Cys)
|
rs886042259
|
|
NM_138694.4(PKHD1):c.7721T>G (p.Met2574Arg)
|
rs768265052
|
|
NM_138694.4(PKHD1):c.778+1G>C
|
rs753471298
|
|
NM_138694.4(PKHD1):c.779-1G>A
|
rs2533509237
|
|
NM_138694.4(PKHD1):c.779-2A>G
|
rs2128224166
|
|
NM_138694.4(PKHD1):c.790G>A (p.Val264Met)
|
rs1809647915
|
|
NM_138694.4(PKHD1):c.7963C>A (p.His2655Asn)
|
rs2535688296
|
|
NM_138694.4(PKHD1):c.8012G>C (p.Arg2671Pro)
|
rs778592523
|
|
NM_138694.4(PKHD1):c.8068T>G (p.Trp2690Gly)
|
rs886061616
|
|
NM_138694.4(PKHD1):c.8069G>C (p.Trp2690Ser)
|
rs768660365
|
|
NM_138694.4(PKHD1):c.8069G>T (p.Trp2690Leu)
|
rs768660365
|
|
NM_138694.4(PKHD1):c.8093A>C (p.Gln2698Pro)
|
rs1771471295
|
|
NM_138694.4(PKHD1):c.8102_8107+8del
|
rs2151627285
|
|
NM_138694.4(PKHD1):c.8173+2T>G
|
rs2151549200
|
|
NM_138694.4(PKHD1):c.8174-2A>G
|
rs1582925274
|
|
NM_138694.4(PKHD1):c.8174-2A>T
|
rs1582925274
|
|
NM_138694.4(PKHD1):c.8206T>A (p.Trp2736Arg)
|
rs764880309
|
|
NM_138694.4(PKHD1):c.8239G>T (p.Glu2747Ter)
|
rs794727756
|
|
NM_138694.4(PKHD1):c.8285A>T (p.Asp2762Val)
|
rs1554263076
|
|
NM_138694.4(PKHD1):c.8312T>C (p.Val2771Ala)
|
rs1793719203
|
|
NM_138694.4(PKHD1):c.8426G>A (p.Gly2809Glu)
|
rs2151261317
|
|
NM_138694.4(PKHD1):c.842G>A (p.Gly281Glu)
|
rs1809634616
|
|
NM_138694.4(PKHD1):c.8440+1G>A
|
rs1793689014
|
|
NM_138694.4(PKHD1):c.8441-1G>A
|
rs1484189435
|
|
NM_138694.4(PKHD1):c.847T>A (p.Phe283Ile)
|
rs375145340
|
|
NM_138694.4(PKHD1):c.847T>C (p.Phe283Leu)
|
rs375145340
|
|
NM_138694.4(PKHD1):c.8497T>C (p.Ser2833Pro)
|
rs1790936941
|
|
NM_138694.4(PKHD1):c.8518C>G (p.Arg2840Gly)
|
rs200432861
|
|
NM_138694.4(PKHD1):c.8543del (p.Pro2848fs)
|
rs746625317
|
|
NM_138694.4(PKHD1):c.8552T>C (p.Ile2851Thr)
|
rs1554232224
|
|
NM_138694.4(PKHD1):c.8555-1G>A
|
rs1191618494
|
|
NM_138694.4(PKHD1):c.85G>T (p.Glu29Ter)
|
rs398124498
|
|
NM_138694.4(PKHD1):c.8648TAG[1] (p.Val2884del)
|
rs1554221478
|
|
NM_138694.4(PKHD1):c.8734_8752del (p.Thr2912fs)
|
rs1582479341
|
|
NM_138694.4(PKHD1):c.8797+1G>A
|
rs2151020151
|
|
NM_138694.4(PKHD1):c.880+1G>A
|
rs1582064292
|
|
NM_138694.4(PKHD1):c.8864G>T (p.Arg2955Leu)
|
rs1582469538
|
|
NM_138694.4(PKHD1):c.8871A>G (p.Ile2957Met)
|
rs1453006216
|
|
NM_138694.4(PKHD1):c.8893T>C (p.Cys2965Arg)
|
rs770068023
|
|
NM_138694.4(PKHD1):c.8950+1G>A
|
rs1351918391
|
|
NM_138694.4(PKHD1):c.8951G>C (p.Gly2984Ala)
|
rs1057516201
|
|
NM_138694.4(PKHD1):c.8963T>A (p.Leu2988His)
|
rs2533834965
|
|
NM_138694.4(PKHD1):c.898A>T (p.Arg300Ter)
|
rs1582053820
|
|
NM_138694.4(PKHD1):c.9187A>T (p.Asn3063Tyr)
|
rs2533826606
|
|
NM_138694.4(PKHD1):c.920T>C (p.Ile307Thr)
|
rs1288017883
|
|
NM_138694.4(PKHD1):c.932C>T (p.Thr311Ile)
|
rs2533478138
|
|
NM_138694.4(PKHD1):c.9460G>A (p.Asp3154Asn)
|
rs2150983772
|
|
NM_138694.4(PKHD1):c.9473T>C (p.Met3158Thr)
|
rs2533814675
|
|
NM_138694.4(PKHD1):c.9532G>T (p.Gly3178Cys)
|
rs2533812777
|
|
NM_138694.4(PKHD1):c.9559del (p.Ser3187fs)
|
rs797045101
|
|
NM_138694.4(PKHD1):c.9627C>G (p.Ser3209Arg)
|
rs2533808647
|
|
NM_138694.4(PKHD1):c.9683C>A (p.Ser3228Ter)
|
rs1057516445
|
|
NM_138694.4(PKHD1):c.9829+1G>A
|
rs1273202231
|
|
NM_138694.4(PKHD1):c.9829+1dup
|
rs1188399385
|
|
NM_138694.4(PKHD1):c.9830-2A>C
|
rs890681861
|
|
NM_138694.4(PKHD1):c.9830-2A>G
|
rs890681861
|
|
NM_138694.4(PKHD1):c.9877G>A (p.Asp3293Asn)
|
rs1060501356
|
|
NM_138694.4(PKHD1):c.9913dup (p.Ile3305fs)
|
rs1785246943
|
|
NM_138694.4(PKHD1):c.9998+1G>A
|
rs1554217691
|
|
NM_138694.4(PKHD1):c.9998+1G>T
|
rs1554217691
|
|
NM_138694.4(PKHD1):c.9999-1G>A
|
rs2150963039
|
|