NM_138694.4(PKHD1):c.9662C>T (p.Pro3221Leu)
|
rs145141656
|
0.00016
|
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu)
|
rs201105958
|
0.00009
|
NM_138694.4(PKHD1):c.5129C>T (p.Pro1710Leu)
|
rs749294509
|
0.00006
|
NM_138694.4(PKHD1):c.11665+1G>A
|
rs759851475
|
0.00004
|
NM_138694.4(PKHD1):c.7430T>G (p.Phe2477Cys)
|
rs1366295189
|
0.00003
|
NM_138694.4(PKHD1):c.390+1G>T
|
rs752327566
|
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.931A>G (p.Thr311Ala)
|
rs890884615
|
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.1409G>T (p.Gly470Val)
|
rs776845008
|
0.00001
|
NM_138694.4(PKHD1):c.1694-2A>G
|
rs1807619777
|
0.00001
|
NM_138694.4(PKHD1):c.2167C>T (p.Arg723Cys)
|
rs794727366
|
0.00001
|
NM_138694.4(PKHD1):c.2638C>T (p.Arg880Cys)
|
rs752646435
|
0.00001
|
NM_138694.4(PKHD1):c.2821+2T>C
|
rs1394431107
|
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.428A>G (p.Tyr143Cys)
|
rs141093030
|
0.00001
|
NM_138694.4(PKHD1):c.53-1G>A
|
rs775511838
|
0.00001
|
NM_138694.4(PKHD1):c.603-2A>G
|
rs757521428
|
0.00001
|
NM_138694.4(PKHD1):c.667G>A (p.Gly223Ser)
|
rs749454235
|
0.00001
|
NM_138694.4(PKHD1):c.707+1G>A
|
rs748365248
|
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.9146A>G (p.His3049Arg)
|
rs367678592
|
0.00001
|
NM_138694.4(PKHD1):c.9152T>C (p.Ile3051Thr)
|
rs1374086784
|
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.977-1G>A
|
rs1808864196
|
0.00001
|
NM_138694.4(PKHD1):c.977G>T (p.Gly326Val)
|
rs778329699
|
0.00001
|
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.(?_51609173)_(51611697_?)del
|
|
|
NC_000006.11:g.(?_51747238)_(51777384_?)dup
|
|
|
NC_000006.11:g.(?_51750655)_(51768850_?)dup
|
|
|
NC_000006.11:g.(?_51768385)_(51799130_?)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.(?_51619071)_(51791383_?)del
|
|
|
NC_000006.12:g.(?_51855873)_(51912596_?)dup
|
|
|
NM_000297.4(PKD2):c.1033T>A (p.Tyr345Asn)
|
rs1485588385
|
|
NM_000297.4(PKD2):c.1094+3_1094+6del
|
rs1553925470
|
|
NM_000297.4(PKD2):c.1548+1G>A
|
rs752024467
|
|
NM_000297.4(PKD2):c.1775G>C (p.Arg592Pro)
|
|
|
NM_000297.4(PKD2):c.1843G>A (p.Ala615Thr)
|
|
|
NM_000297.4(PKD2):c.2019+1G>A
|
rs1553927080
|
|
NM_000297.4(PKD2):c.2020-2A>G
|
|
|
NM_000297.4(PKD2):c.2118+2T>C
|
|
|
NM_000297.4(PKD2):c.2649del (p.Arg883fs)
|
|
|
NM_000297.4(PKD2):c.709+1G>A
|
rs398123308
|
|
NM_138694.4(PKHD1):c.10058T>A (p.Leu3353His)
|
|
|
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)
|
|
|
NM_138694.4(PKHD1):c.10181G>A (p.Cys3394Tyr)
|
rs1772559884
|
|
NM_138694.4(PKHD1):c.10414T>G (p.Cys3472Gly)
|
rs1772510920
|
|
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
|
|
|
NM_138694.4(PKHD1):c.1118+1G>T
|
rs1808826795
|
|
NM_138694.4(PKHD1):c.11285C>T (p.Pro3762Leu)
|
|
|
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
|
|
|
NM_138694.4(PKHD1):c.1160A>T (p.Asn387Ile)
|
|
|
NM_138694.4(PKHD1):c.11666-593_11752del
|
rs2150277532
|
|
NM_138694.4(PKHD1):c.1199T>C (p.Leu400Ser)
|
|
|
NM_138694.4(PKHD1):c.1233+1G>A
|
rs886061623
|
|
NM_138694.4(PKHD1):c.1397G>C (p.Gly466Ala)
|
rs750730042
|
|
NM_138694.4(PKHD1):c.1418T>G (p.Ile473Ser)
|
|
|
NM_138694.4(PKHD1):c.1513-1G>A
|
|
|
NM_138694.4(PKHD1):c.1602+2T>C
|
|
|
NM_138694.4(PKHD1):c.1693+1G>T
|
rs2128209217
|
|
NM_138694.4(PKHD1):c.1693+2T>C
|
|
|
NM_138694.4(PKHD1):c.1694-1G>C
|
rs398124477
|
|
NM_138694.4(PKHD1):c.1836+1G>A
|
rs780898021
|
|
NM_138694.4(PKHD1):c.1846G>A (p.Ala616Thr)
|
|
|
NM_138694.4(PKHD1):c.1964+2T>C
|
|
|
NM_138694.4(PKHD1):c.1965-2A>T
|
rs2128203974
|
|
NM_138694.4(PKHD1):c.1980C>G (p.Cys660Trp)
|
rs1554214097
|
|
NM_138694.4(PKHD1):c.2141-1G>A
|
rs2128197058
|
|
NM_138694.4(PKHD1):c.2280-2A>G
|
rs780675990
|
|
NM_138694.4(PKHD1):c.2542T>A (p.Trp848Arg)
|
|
|
NM_138694.4(PKHD1):c.2592+1G>C
|
rs758812102
|
|
NM_138694.4(PKHD1):c.2592+1G>T
|
|
|
NM_138694.4(PKHD1):c.2639G>C (p.Arg880Pro)
|
|
|
NM_138694.4(PKHD1):c.2715+1G>T
|
|
|
NM_138694.4(PKHD1):c.281+1G>T
|
|
|
NM_138694.4(PKHD1):c.282-2A>T
|
rs1554227278
|
|
NM_138694.4(PKHD1):c.2822-1G>C
|
rs1554208257
|
|
NM_138694.4(PKHD1):c.2855G>A (p.Gly952Glu)
|
|
|
NM_138694.4(PKHD1):c.3098-1G>A
|
rs2128169165
|
|
NM_138694.4(PKHD1):c.3098-2A>T
|
|
|
NM_138694.4(PKHD1):c.3157G>C (p.Gly1053Arg)
|
|
|
NM_138694.4(PKHD1):c.3229-1G>A
|
|
|
NM_138694.4(PKHD1):c.3229-2A>C
|
rs1057516872
|
|
NM_138694.4(PKHD1):c.3365-3C>T
|
rs2128153381
|
|
NM_138694.4(PKHD1):c.3561-1G>A
|
rs1802457333
|
|
NM_138694.4(PKHD1):c.390+1G>A
|
rs752327566
|
|
NM_138694.4(PKHD1):c.4165C>A (p.Pro1389Thr)
|
rs2128144732
|
|
NM_138694.4(PKHD1):c.4220T>C (p.Leu1407Pro)
|
|
|
NM_138694.4(PKHD1):c.4292G>T (p.Cys1431Phe)
|
rs753307105
|
|
NM_138694.4(PKHD1):c.4293T>G (p.Cys1431Trp)
|
|
|
NM_138694.4(PKHD1):c.449-1G>A
|
|
|
NM_138694.4(PKHD1):c.4682G>A (p.Cys1561Tyr)
|
|
|
NM_138694.4(PKHD1):c.4838G>T (p.Cys1613Phe)
|
|
|
NM_138694.4(PKHD1):c.5060T>G (p.Ile1687Arg)
|
|
|
NM_138694.4(PKHD1):c.5174G>C (p.Trp1725Ser)
|
|
|
NM_138694.4(PKHD1):c.5236+2T>C
|
|
|
NM_138694.4(PKHD1):c.53-3C>A
|
|
|
NM_138694.4(PKHD1):c.5380+2T>G
|
rs1801591463
|
|
NM_138694.4(PKHD1):c.5381-7_5385del
|
rs2128130561
|
|
NM_138694.4(PKHD1):c.5624T>G (p.Val1875Gly)
|
|
|
NM_138694.4(PKHD1):c.5751+1G>A
|
rs775638588
|
|
NM_138694.4(PKHD1):c.5752-1G>C
|
|
|
NM_138694.4(PKHD1):c.5752-2A>G
|
rs1057516407
|
|
NM_138694.4(PKHD1):c.5869G>A (p.Asp1957Asn)
|
|
|
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.6074A>G (p.Tyr2025Cys)
|
rs1554144226
|
|
NM_138694.4(PKHD1):c.6121+1G>T
|
rs2127767937
|
|
NM_138694.4(PKHD1):c.6332+1G>A
|
|
|
NM_138694.4(PKHD1):c.6491-2A>G
|
rs2127653183
|
|
NM_138694.4(PKHD1):c.6683-2A>C
|
rs2127637373
|
|
NM_138694.4(PKHD1):c.6761T>G (p.Val2254Gly)
|
|
|
NM_138694.4(PKHD1):c.6793C>T (p.His2265Tyr)
|
|
|
NM_138694.4(PKHD1):c.6809-2A>G
|
rs1340926191
|
|
NM_138694.4(PKHD1):c.6809-2A>T
|
rs1340926191
|
|
NM_138694.4(PKHD1):c.6865+1G>A
|
|
|
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
|
|
|
NM_138694.4(PKHD1):c.6866-2A>T
|
|
|
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
|
|
|
NM_138694.4(PKHD1):c.707+2T>C
|
rs1554222939
|
|
NM_138694.4(PKHD1):c.7215+1G>T
|
|
|
NM_138694.4(PKHD1):c.7350+1G>T
|
rs1057516588
|
|
NM_138694.4(PKHD1):c.7350+2T>A
|
|
|
NM_138694.4(PKHD1):c.7486+1G>T
|
rs1554282419
|
|
NM_138694.4(PKHD1):c.764A>G (p.Tyr255Cys)
|
rs886042259
|
|
NM_138694.4(PKHD1):c.778+1G>C
|
rs753471298
|
|
NM_138694.4(PKHD1):c.779-1G>A
|
|
|
NM_138694.4(PKHD1):c.779-2A>G
|
rs2128224166
|
|
NM_138694.4(PKHD1):c.7963C>A (p.His2655Asn)
|
|
|
NM_138694.4(PKHD1):c.8068T>G (p.Trp2690Gly)
|
|
|
NM_138694.4(PKHD1):c.8069G>C (p.Trp2690Ser)
|
|
|
NM_138694.4(PKHD1):c.8069G>T (p.Trp2690Leu)
|
rs768660365
|
|
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
|
|
|
NM_138694.4(PKHD1):c.8174-2A>T
|
rs1582925274
|
|
NM_138694.4(PKHD1):c.8206T>A (p.Trp2736Arg)
|
|
|
NM_138694.4(PKHD1):c.8426G>A (p.Gly2809Glu)
|
rs2151261317
|
|
NM_138694.4(PKHD1):c.8440+1G>A
|
rs1793689014
|
|
NM_138694.4(PKHD1):c.8441-1G>A
|
|
|
NM_138694.4(PKHD1):c.847T>A (p.Phe283Ile)
|
|
|
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.8555-1G>A
|
|
|
NM_138694.4(PKHD1):c.8648TAG[1] (p.Val2884del)
|
rs1554221478
|
|
NM_138694.4(PKHD1):c.8797+1G>A
|
rs2151020151
|
|
NM_138694.4(PKHD1):c.880+1G>A
|
rs1582064292
|
|
NM_138694.4(PKHD1):c.881-1G>A
|
rs1554220431
|
|
NM_138694.4(PKHD1):c.8871A>G (p.Ile2957Met)
|
|
|
NM_138694.4(PKHD1):c.8950+1G>A
|
|
|
NM_138694.4(PKHD1):c.8963T>A (p.Leu2988His)
|
|
|
NM_138694.4(PKHD1):c.9187A>T (p.Asn3063Tyr)
|
|
|
NM_138694.4(PKHD1):c.932C>T (p.Thr311Ile)
|
|
|
NM_138694.4(PKHD1):c.9460G>A (p.Asp3154Asn)
|
rs2150983772
|
|
NM_138694.4(PKHD1):c.9473T>C (p.Met3158Thr)
|
|
|
NM_138694.4(PKHD1):c.9532G>T (p.Gly3178Cys)
|
|
|
NM_138694.4(PKHD1):c.9627C>G (p.Ser3209Arg)
|
|
|
NM_138694.4(PKHD1):c.9829+1dup
|
|
|
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.9998+1G>A
|
|
|
NM_138694.4(PKHD1):c.9998+1G>T
|
rs1554217691
|
|
NM_138694.4(PKHD1):c.9999-1G>A
|
rs2150963039
|
|