NM_000297.4(PKD2):c.844-22G>A
|
rs2725221
|
0.66782
|
NM_000297.4(PKD2):c.1094+92A>G
|
rs17013735
|
0.10175
|
NM_000297.4(PKD2):c.596-16C>T
|
rs62310565
|
0.01932
|
NM_000297.4(PKD2):c.1359A>G (p.Pro453=)
|
rs17013754
|
0.00985
|
NM_000297.4(PKD2):c.2134T>C (p.Leu712=)
|
rs73841280
|
0.00563
|
NM_000297.4(PKD2):c.2398A>C (p.Met800Leu)
|
rs2234917
|
0.00481
|
NM_000297.4(PKD2):c.2420G>A (p.Arg807Gln)
|
rs147654263
|
0.00312
|
NM_000297.4(PKD2):c.2411G>A (p.Ser804Asn)
|
rs145343957
|
0.00280
|
NM_000297.4(PKD2):c.1445T>G (p.Phe482Cys)
|
rs75762896
|
0.00176
|
NM_000297.4(PKD2):c.1830G>A (p.Ala610=)
|
rs144968710
|
0.00091
|
NM_000297.4(PKD2):c.2720G>A (p.Arg907Gln)
|
rs150947109
|
0.00086
|
NM_000297.4(PKD2):c.784G>A (p.Val262Met)
|
rs138132026
|
0.00078
|
NM_000297.4(PKD2):c.1354A>G (p.Ile452Val)
|
rs1801612
|
0.00065
|
NM_000297.4(PKD2):c.1836T>C (p.Ala612=)
|
rs145952917
|
0.00048
|
NM_000297.4(PKD2):c.1617G>C (p.Leu539=)
|
rs145297759
|
0.00044
|
NM_000297.4(PKD2):c.1082G>A (p.Arg361Gln)
|
rs753359659
|
0.00036
|
NM_000297.4(PKD2):c.2829C>T (p.Ser943=)
|
rs138495345
|
0.00036
|
NM_000297.4(PKD2):c.1546G>T (p.Val516Leu)
|
rs143581690
|
0.00028
|
NM_000297.4(PKD2):c.595+15C>T
|
rs559555727
|
0.00026
|
NM_000297.4(PKD2):c.2866G>A (p.Glu956Lys)
|
rs142701912
|
0.00023
|
NM_000297.4(PKD2):c.2286C>T (p.Tyr762=)
|
rs555242193
|
0.00017
|
NM_000297.4(PKD2):c.1223G>T (p.Ser408Ile)
|
rs148386297
|
0.00014
|
NM_000297.4(PKD2):c.1459T>C (p.Tyr487His)
|
rs201328200
|
0.00014
|
NM_000297.4(PKD2):c.2583C>T (p.Asp861=)
|
rs369520452
|
0.00014
|
NM_000297.4(PKD2):c.752G>A (p.Arg251Gln)
|
rs147000344
|
0.00014
|
NM_000297.4(PKD2):c.994T>G (p.Ser332Ala)
|
rs200314088
|
0.00013
|
NM_000297.4(PKD2):c.1092C>T (p.Thr364=)
|
rs149257723
|
0.00011
|
NM_000297.4(PKD2):c.2399T>C (p.Met800Thr)
|
rs376271163
|
0.00011
|
NM_000297.4(PKD2):c.2523-7C>T
|
rs199528409
|
0.00011
|
NM_000297.4(PKD2):c.2392C>T (p.Arg798Cys)
|
rs150838063
|
0.00010
|
NM_000297.4(PKD2):c.733A>C (p.Asn245His)
|
rs200543024
|
0.00010
|
NM_000297.4(PKD2):c.1959T>C (p.Asn653=)
|
rs371979633
|
0.00009
|
NM_000297.4(PKD2):c.2391A>C (p.Pro797=)
|
rs556777891
|
0.00009
|
NM_000297.4(PKD2):c.2725G>A (p.Val909Ile)
|
rs140848008
|
0.00009
|
NM_000297.4(PKD2):c.709+17C>T
|
rs757367196
|
0.00009
|
NM_000297.4(PKD2):c.1035T>C (p.Tyr345=)
|
rs113818977
|
0.00008
|
NM_000297.4(PKD2):c.1717-7C>T
|
rs201267638
|
0.00008
|
NM_000297.4(PKD2):c.2814A>G (p.Gln938=)
|
rs573469832
|
0.00008
|
NM_000297.4(PKD2):c.1549-4T>C
|
rs374450718
|
0.00007
|
NM_000297.4(PKD2):c.2283G>A (p.Lys761=)
|
rs753806545
|
0.00007
|
NM_000297.4(PKD2):c.2499C>T (p.Gly833=)
|
rs180709531
|
0.00007
|
NM_000297.4(PKD2):c.1654G>C (p.Ala552Pro)
|
rs369908107
|
0.00006
|
NM_000297.4(PKD2):c.2240+10A>G
|
rs201679112
|
0.00006
|
NM_000297.4(PKD2):c.1873G>A (p.Asp625Asn)
|
rs757573744
|
0.00005
|
NM_000297.4(PKD2):c.1927G>A (p.Asp643Asn)
|
rs748354306
|
0.00005
|
NM_000297.4(PKD2):c.2388A>G (p.Leu796=)
|
rs535577967
|
0.00005
|
NM_000297.4(PKD2):c.2491T>C (p.Ser831Pro)
|
rs149728995
|
0.00005
|
NM_000297.4(PKD2):c.1050C>T (p.Val350=)
|
rs767319449
|
0.00004
|
NM_000297.4(PKD2):c.1444T>G (p.Phe482Val)
|
rs201504575
|
0.00004
|
NM_000297.4(PKD2):c.1542C>T (p.Ile514=)
|
rs145716012
|
0.00004
|
NM_000297.4(PKD2):c.1555G>A (p.Val519Met)
|
rs148920907
|
0.00004
|
NM_000297.4(PKD2):c.2186T>A (p.Leu729Gln)
|
rs569788968
|
0.00004
|
NM_000297.4(PKD2):c.2241-9T>C
|
rs886059702
|
0.00004
|
NM_000297.4(PKD2):c.2338G>A (p.Asp780Asn)
|
rs773557612
|
0.00004
|
NM_000297.4(PKD2):c.2508C>T (p.Tyr836=)
|
rs757682666
|
0.00004
|
NM_000297.4(PKD2):c.2522+16T>C
|
rs202206741
|
0.00004
|
NM_000297.4(PKD2):c.2754C>T (p.Ser918=)
|
rs748855749
|
0.00004
|
NM_000297.4(PKD2):c.2792C>T (p.Thr931Met)
|
rs368926162
|
0.00004
|
NM_000297.4(PKD2):c.2901C>T (p.His967=)
|
rs757154198
|
0.00004
|
NM_000297.4(PKD2):c.794C>T (p.Thr265Met)
|
rs569250922
|
0.00004
|
NM_000297.4(PKD2):c.1869C>G (p.Val623=)
|
rs148228357
|
0.00003
|
NM_000297.4(PKD2):c.2118+19C>T
|
rs777790980
|
0.00003
|
NM_000297.4(PKD2):c.2313C>T (p.Thr771=)
|
rs544014723
|
0.00003
|
NM_000297.4(PKD2):c.2408G>A (p.Arg803Gln)
|
rs771211716
|
0.00003
|
NM_000297.4(PKD2):c.2543G>A (p.Arg848Gln)
|
rs201598917
|
0.00003
|
NM_000297.4(PKD2):c.1394A>G (p.Tyr465Cys)
|
rs773998492
|
0.00002
|
NM_000297.4(PKD2):c.1781C>T (p.Ala594Val)
|
rs769963846
|
0.00002
|
NM_000297.4(PKD2):c.2188C>T (p.Arg730Trp)
|
rs749112798
|
0.00002
|
NM_000297.4(PKD2):c.2314G>A (p.Glu772Lys)
|
rs774525905
|
0.00002
|
NM_000297.4(PKD2):c.2448C>T (p.Asp816=)
|
rs371289455
|
0.00002
|
NM_000297.4(PKD2):c.2555C>G (p.Ser852Cys)
|
rs773003992
|
0.00002
|
NM_000297.4(PKD2):c.2586C>T (p.Ala862=)
|
rs373043298
|
0.00002
|
NM_000297.4(PKD2):c.2755G>A (p.Asp919Asn)
|
rs370489860
|
0.00002
|
NM_000297.4(PKD2):c.2780A>C (p.His927Pro)
|
rs374072424
|
0.00002
|
NM_000297.4(PKD2):c.2816C>T (p.Pro939Leu)
|
rs750360835
|
0.00002
|
NM_000297.4(PKD2):c.961A>G (p.Ile321Val)
|
rs778569884
|
0.00002
|
NM_000297.4(PKD2):c.*1941del
|
rs886059710
|
0.00001
|
NM_000297.4(PKD2):c.1081C>T (p.Arg361Ter)
|
rs1578130676
|
0.00001
|
NM_000297.4(PKD2):c.1151C>A (p.Ala384Glu)
|
rs1408612463
|
0.00001
|
NM_000297.4(PKD2):c.1153A>G (p.Thr385Ala)
|
rs1331921848
|
0.00001
|
NM_000297.4(PKD2):c.1249C>T (p.Arg417Ter)
|
rs1324209174
|
0.00001
|
NM_000297.4(PKD2):c.1281A>T (p.Ser427=)
|
rs367859449
|
0.00001
|
NM_000297.4(PKD2):c.1319+1G>A
|
rs1131692280
|
0.00001
|
NM_000297.4(PKD2):c.1320G>A (p.Arg440=)
|
rs886041114
|
0.00001
|
NM_000297.4(PKD2):c.1395T>C (p.Tyr465=)
|
rs1199709583
|
0.00001
|
NM_000297.4(PKD2):c.1548+13A>G
|
rs1213173514
|
0.00001
|
NM_000297.4(PKD2):c.1548+9G>C
|
rs376901684
|
0.00001
|
NM_000297.4(PKD2):c.1658A>G (p.Tyr553Cys)
|
rs752554282
|
0.00001
|
NM_000297.4(PKD2):c.1731C>G (p.Ile577Met)
|
rs985821858
|
0.00001
|
NM_000297.4(PKD2):c.1829C>T (p.Ala610Val)
|
rs1339345208
|
0.00001
|
NM_000297.4(PKD2):c.1898+5G>A
|
rs1553926929
|
0.00001
|
NM_000297.4(PKD2):c.1902C>T (p.Phe634=)
|
rs368390451
|
0.00001
|
NM_000297.4(PKD2):c.1931T>C (p.Ile644Thr)
|
rs137929700
|
0.00001
|
NM_000297.4(PKD2):c.1938T>C (p.Phe646=)
|
rs772994340
|
0.00001
|
NM_000297.4(PKD2):c.1985C>T (p.Thr662Ile)
|
rs142983796
|
0.00001
|
NM_000297.4(PKD2):c.2119-13C>T
|
rs755404719
|
0.00001
|
NM_000297.4(PKD2):c.2124C>T (p.Tyr708=)
|
rs772904125
|
0.00001
|
NM_000297.4(PKD2):c.2139C>T (p.Val713=)
|
rs200707583
|
0.00001
|
NM_000297.4(PKD2):c.2162C>G (p.Thr721Ser)
|
rs751589219
|
0.00001
|
NM_000297.4(PKD2):c.2200G>A (p.Gly734Ser)
|
rs747895445
|
0.00001
|
NM_000297.4(PKD2):c.2205G>A (p.Lys735=)
|
rs368245083
|
0.00001
|
NM_000297.4(PKD2):c.2224C>T (p.Arg742Ter)
|
rs121918040
|
0.00001
|
NM_000297.4(PKD2):c.2241-14C>T
|
rs763507546
|
0.00001
|
NM_000297.4(PKD2):c.2265T>C (p.Ile755=)
|
rs750408408
|
0.00001
|
NM_000297.4(PKD2):c.2428G>A (p.Asp810Asn)
|
rs775470869
|
0.00001
|
NM_000297.4(PKD2):c.2449G>A (p.Asp817Asn)
|
rs761597786
|
0.00001
|
NM_000297.4(PKD2):c.2460C>T (p.Ser820=)
|
rs572822238
|
0.00001
|
NM_000297.4(PKD2):c.2486G>A (p.Ser829Asn)
|
rs140589899
|
0.00001
|
NM_000297.4(PKD2):c.2533C>T (p.Arg845Ter)
|
rs369678636
|
0.00001
|
NM_000297.4(PKD2):c.2560G>A (p.Gly854Ser)
|
rs1334898127
|
0.00001
|
NM_000297.4(PKD2):c.2585C>T (p.Ala862Val)
|
rs767919784
|
0.00001
|
NM_000297.4(PKD2):c.2592C>T (p.Ile864=)
|
rs1224247739
|
0.00001
|
NM_000297.4(PKD2):c.2613G>A (p.Glu871=)
|
rs1458107200
|
0.00001
|
NM_000297.4(PKD2):c.2668G>A (p.Glu890Lys)
|
rs770609334
|
0.00001
|
NM_000297.4(PKD2):c.2762C>T (p.Ala921Val)
|
rs545898956
|
0.00001
|
NM_000297.4(PKD2):c.2837C>T (p.Pro946Leu)
|
rs370039125
|
0.00001
|
NM_000297.4(PKD2):c.2838A>G (p.Pro946=)
|
rs373794310
|
0.00001
|
NM_000297.4(PKD2):c.2904A>C (p.Val968=)
|
rs777215141
|
0.00001
|
NM_000297.4(PKD2):c.614T>A (p.Leu205His)
|
rs1064796616
|
0.00001
|
NM_000297.4(PKD2):c.637C>T (p.Arg213Ter)
|
rs1302726543
|
0.00001
|
NM_000297.4(PKD2):c.710-10T>G
|
rs1727324181
|
0.00001
|
NM_000297.4(PKD2):c.710-11C>A
|
rs764334983
|
0.00001
|
NM_000297.4(PKD2):c.717C>T (p.Tyr239=)
|
rs780351760
|
0.00001
|
NM_000297.4(PKD2):c.724A>G (p.Met242Val)
|
rs748163182
|
0.00001
|
NM_000297.4(PKD2):c.783C>T (p.Pro261=)
|
rs766343471
|
0.00001
|
NM_000297.4(PKD2):c.795G>A (p.Thr265=)
|
rs758220304
|
0.00001
|
NM_000297.4(PKD2):c.843+6T>C
|
rs753371816
|
0.00001
|
NM_000297.4(PKD2):c.858C>A (p.Ser286=)
|
rs1181336830
|
0.00001
|
NM_000297.4(PKD2):c.901A>G (p.Thr301Ala)
|
rs759567768
|
0.00001
|
NM_000297.4(PKD2):c.914A>G (p.Asn305Ser)
|
rs1727416682
|
0.00001
|
NM_000297.4(PKD2):c.964C>T (p.Arg322Trp)
|
rs1553925453
|
0.00001
|
NM_000297.4(PKD2):c.973C>T (p.Arg325Ter)
|
rs1060503526
|
0.00001
|
NC_000004.12:g.(?_88038231)_(88075714_?)del
|
|
|
NM_000297.4(PKD2):c.*1357CTT[1]
|
rs886059708
|
|
NM_000297.4(PKD2):c.*184dup
|
rs533244915
|
|
NM_000297.4(PKD2):c.*235dup
|
rs200938134
|
|
NM_000297.4(PKD2):c.*512_*513del
|
rs570887943
|
|
NM_000297.4(PKD2):c.1018G>T (p.Glu340Ter)
|
rs2110107236
|
|
NM_000297.4(PKD2):c.1027G>C (p.Glu343Gln)
|
rs2110107239
|
|
NM_000297.4(PKD2):c.1033T>A (p.Tyr345Asn)
|
rs1485588385
|
|
NM_000297.4(PKD2):c.1043_1047del (p.Tyr348fs)
|
|
|
NM_000297.4(PKD2):c.1048G>T (p.Val350Phe)
|
|
|
NM_000297.4(PKD2):c.1057G>A (p.Glu353Lys)
|
rs375164861
|
|
NM_000297.4(PKD2):c.1071C>A (p.Pro357=)
|
|
|
NM_000297.4(PKD2):c.1092C>G (p.Thr364=)
|
|
|
NM_000297.4(PKD2):c.1094+3_1094+6del
|
rs1553925470
|
|
NM_000297.4(PKD2):c.1095-2A>T
|
|
|
NM_000297.4(PKD2):c.1103A>G (p.Tyr368Cys)
|
rs2110112018
|
|
NM_000297.4(PKD2):c.1104C>T (p.Tyr368=)
|
|
|
NM_000297.4(PKD2):c.1106C>G (p.Thr369Arg)
|
rs2110112025
|
|
NM_000297.4(PKD2):c.1126G>A (p.Gly376Ser)
|
|
|
NM_000297.4(PKD2):c.1130G>A (p.Ser377Asn)
|
|
|
NM_000297.4(PKD2):c.1133G>A (p.Ser378Asn)
|
|
|
NM_000297.4(PKD2):c.1136A>G (p.His379Arg)
|
|
|
NM_000297.4(PKD2):c.1137C>G (p.His379Gln)
|
|
|
NM_000297.4(PKD2):c.1144A>C (p.Ile382Leu)
|
|
|
NM_000297.4(PKD2):c.1144A>G (p.Ile382Val)
|
|
|
NM_000297.4(PKD2):c.1146C>A (p.Ile382=)
|
rs1351905972
|
|
NM_000297.4(PKD2):c.1146_1149dup (p.Ala384fs)
|
rs2110112083
|
|
NM_000297.4(PKD2):c.1152A>T (p.Ala384=)
|
|
|
NM_000297.4(PKD2):c.1161T>C (p.Ser387=)
|
|
|
NM_000297.4(PKD2):c.1172A>G (p.Tyr391Cys)
|
|
|
NM_000297.4(PKD2):c.1176T>C (p.Tyr392=)
|
|
|
NM_000297.4(PKD2):c.1178_1227dup (p.Lys410fs)
|
rs1727648258
|
|
NM_000297.4(PKD2):c.1205del (p.Thr402fs)
|
rs2110112194
|
|
NM_000297.4(PKD2):c.1219G>A (p.Ala407Thr)
|
|
|
NM_000297.4(PKD2):c.1246G>C (p.Asp416His)
|
|
|
NM_000297.4(PKD2):c.1257C>T (p.Thr419=)
|
|
|
NM_000297.4(PKD2):c.1259G>A (p.Arg420Lys)
|
|
|
NM_000297.4(PKD2):c.1261G>A (p.Ala421Thr)
|
rs748280556
|
|
NM_000297.4(PKD2):c.1261G>T (p.Ala421Ser)
|
rs748280556
|
|
NM_000297.4(PKD2):c.1273G>C (p.Asp425His)
|
rs1727652728
|
|
NM_000297.4(PKD2):c.1276T>C (p.Phe426Leu)
|
|
|
NM_000297.4(PKD2):c.1278C>T (p.Phe426=)
|
|
|
NM_000297.4(PKD2):c.1283T>C (p.Val428Ala)
|
|
|
NM_000297.4(PKD2):c.1283T>G (p.Val428Gly)
|
|
|
NM_000297.4(PKD2):c.1284G>A (p.Val428=)
|
|
|
NM_000297.4(PKD2):c.1290C>A (p.Asn430Lys)
|
rs554608570
|
|
NM_000297.4(PKD2):c.1290C>T (p.Asn430=)
|
|
|
NM_000297.4(PKD2):c.1291G>A (p.Ala431Thr)
|
|
|
NM_000297.4(PKD2):c.1319+13G>A
|
|
|
NM_000297.4(PKD2):c.1320-15C>G
|
|
|
NM_000297.4(PKD2):c.1320-18G>A
|
|
|
NM_000297.4(PKD2):c.1320-6A>G
|
|
|
NM_000297.4(PKD2):c.1320G>T (p.Arg440Ser)
|
rs886041114
|
|
NM_000297.4(PKD2):c.1325T>A (p.Leu442Ter)
|
rs1391596181
|
|
NM_000297.4(PKD2):c.1326G>T (p.Leu442Phe)
|
|
|
NM_000297.4(PKD2):c.1342A>G (p.Thr448Ala)
|
rs745700907
|
|
NM_000297.4(PKD2):c.1346G>A (p.Gly449Asp)
|
rs1131408
|
|
NM_000297.4(PKD2):c.1346G>C (p.Gly449Ala)
|
|
|
NM_000297.4(PKD2):c.1365G>A (p.Trp455Ter)
|
rs1578135870
|
|
NM_000297.4(PKD2):c.1366C>T (p.Gln456Ter)
|
rs2110115819
|
|
NM_000297.4(PKD2):c.1368A>G (p.Gln456=)
|
|
|
NM_000297.4(PKD2):c.1373A>C (p.Gln458Pro)
|
|
|
NM_000297.4(PKD2):c.1390C>T (p.Arg464Ter)
|
rs121918042
|
|
NM_000297.4(PKD2):c.1396G>T (p.Val466Phe)
|
|
|
NM_000297.4(PKD2):c.1423G>T (p.Ala475Ser)
|
|
|
NM_000297.4(PKD2):c.1437C>T (p.Ile479=)
|
|
|
NM_000297.4(PKD2):c.1460A>G (p.Tyr487Cys)
|
|
|
NM_000297.4(PKD2):c.1477T>C (p.Leu493=)
|
|
|
NM_000297.4(PKD2):c.1486C>T (p.Arg496Cys)
|
rs977431912
|
|
NM_000297.4(PKD2):c.1489A>G (p.Ile497Val)
|
|
|
NM_000297.4(PKD2):c.1492C>G (p.His498Asp)
|
rs1553926080
|
|
NM_000297.4(PKD2):c.1492C>T (p.His498Tyr)
|
rs1553926080
|
|
NM_000297.4(PKD2):c.1500A>G (p.Leu500=)
|
|
|
NM_000297.4(PKD2):c.1502A>G (p.His501Arg)
|
|
|
NM_000297.4(PKD2):c.1521G>A (p.Trp507Ter)
|
|
|
NM_000297.4(PKD2):c.1523A>G (p.Asn508Ser)
|
|
|
NM_000297.4(PKD2):c.1542C>G (p.Ile514Met)
|
|
|
NM_000297.4(PKD2):c.1548+10A>G
|
|
|
NM_000297.4(PKD2):c.1548+1G>A
|
rs752024467
|
|
NM_000297.4(PKD2):c.1549-20A>G
|
|
|
NM_000297.4(PKD2):c.1557G>A (p.Val519=)
|
|
|
NM_000297.4(PKD2):c.1564A>C (p.Ile522Leu)
|
|
|
NM_000297.4(PKD2):c.1564A>G (p.Ile522Val)
|
|
|
NM_000297.4(PKD2):c.1565T>C (p.Ile522Thr)
|
|
|
NM_000297.4(PKD2):c.1577T>A (p.Ile526Lys)
|
rs1578139175
|
|
NM_000297.4(PKD2):c.1579_1580del (p.Tyr527fs)
|
rs1553926509
|
|
NM_000297.4(PKD2):c.1580A>G (p.Tyr527Cys)
|
|
|
NM_000297.4(PKD2):c.1587A>T (p.Thr529=)
|
rs375543446
|
|
NM_000297.4(PKD2):c.1591A>G (p.Asn531Asp)
|
|
|
NM_000297.4(PKD2):c.1594G>T (p.Val532Leu)
|
|
|
NM_000297.4(PKD2):c.1604T>C (p.Leu535Pro)
|
|
|
NM_000297.4(PKD2):c.1606C>T (p.Leu536=)
|
rs983462333
|
|
NM_000297.4(PKD2):c.1617G>A (p.Leu539=)
|
rs145297759
|
|
NM_000297.4(PKD2):c.1646A>G (p.Glu549Gly)
|
|
|
NM_000297.4(PKD2):c.1654G>A (p.Ala552Thr)
|
|
|
NM_000297.4(PKD2):c.1671G>A (p.Gln557=)
|
|
|
NM_000297.4(PKD2):c.1678_1679del (p.Asn560fs)
|
|
|
NM_000297.4(PKD2):c.1705G>T (p.Val569Phe)
|
|
|
NM_000297.4(PKD2):c.1716+14T>G
|
|
|
NM_000297.4(PKD2):c.1716+17A>G
|
rs142580445
|
|
NM_000297.4(PKD2):c.1716+18T>C
|
|
|
NM_000297.4(PKD2):c.1717-20A>G
|
|
|
NM_000297.4(PKD2):c.1717-6T>A
|
|
|
NM_000297.4(PKD2):c.1725A>G (p.Lys575=)
|
|
|
NM_000297.4(PKD2):c.1733A>G (p.Asn578Ser)
|
|
|
NM_000297.4(PKD2):c.1743G>A (p.Arg581=)
|
|
|
NM_000297.4(PKD2):c.1755G>C (p.Gln585His)
|
|
|
NM_000297.4(PKD2):c.1760C>T (p.Ser587Leu)
|
|
|
NM_000297.4(PKD2):c.1762A>G (p.Thr588Ala)
|
|
|
NM_000297.4(PKD2):c.1774C>T (p.Arg592Ter)
|
rs1553926905
|
|
NM_000297.4(PKD2):c.1775G>C (p.Arg592Pro)
|
|
|
NM_000297.4(PKD2):c.1808T>C (p.Met603Thr)
|
|
|
NM_000297.4(PKD2):c.1816A>T (p.Ile606Phe)
|
rs755666887
|
|
NM_000297.4(PKD2):c.1827A>G (p.Leu609=)
|
|
|
NM_000297.4(PKD2):c.1843G>A (p.Ala615Thr)
|
|
|
NM_000297.4(PKD2):c.1864C>T (p.Gln622Ter)
|
|
|
NM_000297.4(PKD2):c.1893G>A (p.Glu631=)
|
|
|
NM_000297.4(PKD2):c.1896T>C (p.Cys632=)
|
|
|
NM_000297.4(PKD2):c.1898+11A>G
|
rs768940917
|
|
NM_000297.4(PKD2):c.1899-17T>C
|
|
|
NM_000297.4(PKD2):c.1899-6T>G
|
rs398123306
|
|
NM_000297.4(PKD2):c.1912C>T (p.Arg638Cys)
|
|
|
NM_000297.4(PKD2):c.1913G>A (p.Arg638His)
|
|
|
NM_000297.4(PKD2):c.1918A>G (p.Ile640Val)
|
|
|
NM_000297.4(PKD2):c.1925del (p.Gly642fs)
|
|
|
NM_000297.4(PKD2):c.1929T>C (p.Asp643=)
|
|
|
NM_000297.4(PKD2):c.1945A>G (p.Ile649Val)
|
|
|
NM_000297.4(PKD2):c.1948G>A (p.Glu650Lys)
|
|
|
NM_000297.4(PKD2):c.1967T>G (p.Leu656Trp)
|
rs138476749
|
|
NM_000297.4(PKD2):c.1969G>A (p.Gly657Arg)
|
|
|
NM_000297.4(PKD2):c.1985del (p.Thr662fs)
|
rs2110129653
|
|
NM_000297.4(PKD2):c.1986T>C (p.Thr662=)
|
|
|
NM_000297.4(PKD2):c.1988C>T (p.Thr663Ile)
|
rs1720430638
|
|
NM_000297.4(PKD2):c.2019+1G>A
|
rs1553927080
|
|
NM_000297.4(PKD2):c.2020-19T>C
|
rs776437852
|
|
NM_000297.4(PKD2):c.2020-1_2020del
|
rs1553927436
|
|
NM_000297.4(PKD2):c.2020-2A>G
|
|
|
NM_000297.4(PKD2):c.2035A>G (p.Ile679Val)
|
|
|
NM_000297.4(PKD2):c.2040C>T (p.Ile680=)
|
|
|
NM_000297.4(PKD2):c.2042A>G (p.Asn681Ser)
|
|
|
NM_000297.4(PKD2):c.2062A>G (p.Lys688Glu)
|
rs2110134005
|
|
NM_000297.4(PKD2):c.2089G>C (p.Glu697Gln)
|
|
|
NM_000297.4(PKD2):c.2093T>C (p.Met698Thr)
|
|
|
NM_000297.4(PKD2):c.2101_2102del (p.Ser701fs)
|
rs1578144898
|
|
NM_000297.4(PKD2):c.2106T>A (p.Asp702Glu)
|
rs1409281141
|
|
NM_000297.4(PKD2):c.2118+10del
|
|
|
NM_000297.4(PKD2):c.2118+1G>C
|
rs1720594399
|
|
NM_000297.4(PKD2):c.2118+2T>C
|
|
|
NM_000297.4(PKD2):c.2125del (p.His709fs)
|
rs2110137964
|
|
NM_000297.4(PKD2):c.2139C>G (p.Val713=)
|
|
|
NM_000297.4(PKD2):c.2140A>G (p.Lys714Glu)
|
|
|
NM_000297.4(PKD2):c.2154A>C (p.Lys718Asn)
|
|
|
NM_000297.4(PKD2):c.2159dup (p.Asn720fs)
|
rs757757289
|
|
NM_000297.4(PKD2):c.2164G>A (p.Val722Met)
|
|
|
NM_000297.4(PKD2):c.2164G>T (p.Val722Leu)
|
rs529945469
|
|
NM_000297.4(PKD2):c.2178A>T (p.Ser726=)
|
|
|
NM_000297.4(PKD2):c.2184_2185delinsAG (p.Ser728_Leu729delinsArgVal)
|
|
|
NM_000297.4(PKD2):c.2186T>C (p.Leu729Pro)
|
|
|
NM_000297.4(PKD2):c.2189G>A (p.Arg730Gln)
|
|
|
NM_000297.4(PKD2):c.2196A>C (p.Gly732=)
|
rs2110138104
|
|
NM_000297.4(PKD2):c.2207T>C (p.Leu736Ser)
|
rs868519938
|
|
NM_000297.4(PKD2):c.2208_2213del (p.Leu736_Asn737del)
|
rs778896252
|
|
NM_000297.4(PKD2):c.2231A>G (p.Asp744Gly)
|
rs763311767
|
|
NM_000297.4(PKD2):c.2241-12C>T
|
|
|
NM_000297.4(PKD2):c.2241-8A>G
|
|
|
NM_000297.4(PKD2):c.2246G>A (p.Gly749Asp)
|
|
|
NM_000297.4(PKD2):c.2262G>A (p.Glu754=)
|
|
|
NM_000297.4(PKD2):c.2272A>G (p.Ile758Val)
|
|
|
NM_000297.4(PKD2):c.2313C>A (p.Thr771=)
|
rs544014723
|
|
NM_000297.4(PKD2):c.2313C>G (p.Thr771=)
|
|
|
NM_000297.4(PKD2):c.2317C>T (p.His773Tyr)
|
|
|
NM_000297.4(PKD2):c.2318A>G (p.His773Arg)
|
rs748554287
|
|
NM_000297.4(PKD2):c.2333T>C (p.Met778Thr)
|
rs2110138695
|
|
NM_000297.4(PKD2):c.2336G>A (p.Arg779Lys)
|
|
|
NM_000297.4(PKD2):c.2338G>C (p.Asp780His)
|
rs773557612
|
|
NM_000297.4(PKD2):c.2340C>A (p.Asp780Glu)
|
|
|
NM_000297.4(PKD2):c.2340C>T (p.Asp780=)
|
|
|
NM_000297.4(PKD2):c.2343C>A (p.Asp781Glu)
|
|
|
NM_000297.4(PKD2):c.2352A>G (p.Lys784=)
|
|
|
NM_000297.4(PKD2):c.2353G>A (p.Glu785Lys)
|
|
|
NM_000297.4(PKD2):c.2358+5G>A
|
rs1720774022
|
|
NM_000297.4(PKD2):c.2358+6T>C
|
|
|
NM_000297.4(PKD2):c.2358+8_2358+21del
|
rs747163995
|
|
NM_000297.4(PKD2):c.2359-12C>G
|
|
|
NM_000297.4(PKD2):c.2359-20A>G
|
|
|
NM_000297.4(PKD2):c.2359-7del
|
rs1034495207
|
|
NM_000297.4(PKD2):c.2359-7dup
|
|
|
NM_000297.4(PKD2):c.2377C>T (p.His793Tyr)
|
rs1720855480
|
|
NM_000297.4(PKD2):c.2383T>C (p.Ser795Pro)
|
|
|
NM_000297.4(PKD2):c.2388A>T (p.Leu796Phe)
|
|
|
NM_000297.4(PKD2):c.2393G>A (p.Arg798His)
|
|
|
NM_000297.4(PKD2):c.2400G>A (p.Met800Ile)
|
|
|
NM_000297.4(PKD2):c.2407C>G (p.Arg803Gly)
|
|
|
NM_000297.4(PKD2):c.2407C>T (p.Arg803Ter)
|
rs778235410
|
|
NM_000297.4(PKD2):c.2416C>T (p.Pro806Ser)
|
|
|
NM_000297.4(PKD2):c.2484A>G (p.Gly828=)
|
rs889600957
|
|
NM_000297.4(PKD2):c.2500G>A (p.Val834Ile)
|
|
|
NM_000297.4(PKD2):c.2508C>G (p.Tyr836Ter)
|
rs757682666
|
|
NM_000297.4(PKD2):c.2509G>A (p.Glu837Lys)
|
|
|
NM_000297.4(PKD2):c.2522+12G>A
|
|
|
NM_000297.4(PKD2):c.2522+2dup
|
|
|
NM_000297.4(PKD2):c.2523-3C>A
|
|
|
NM_000297.4(PKD2):c.2524del (p.Leu842fs)
|
rs1553928730
|
|
NM_000297.4(PKD2):c.2559C>T (p.Ile853=)
|
|
|
NM_000297.4(PKD2):c.2563A>G (p.Ser855Gly)
|
|
|
NM_000297.4(PKD2):c.2571G>A (p.Val857=)
|
|
|
NM_000297.4(PKD2):c.2572T>A (p.Ser858Thr)
|
|
|
NM_000297.4(PKD2):c.2584del (p.Ala862fs)
|
rs2110150747
|
|
NM_000297.4(PKD2):c.2602G>A (p.Glu868Lys)
|
rs754032659
|
|
NM_000297.4(PKD2):c.2614C>A (p.Arg872=)
|
|
|
NM_000297.4(PKD2):c.2614C>G (p.Arg872Gly)
|
rs755226061
|
|
NM_000297.4(PKD2):c.2614C>T (p.Arg872Ter)
|
rs755226061
|
|
NM_000297.4(PKD2):c.2615G>A (p.Arg872Gln)
|
|
|
NM_000297.4(PKD2):c.2627A>G (p.Lys876Arg)
|
rs2110150855
|
|
NM_000297.4(PKD2):c.2629AGG[1] (p.Arg878del)
|
|
|
NM_000297.4(PKD2):c.2637G>A (p.Glu879=)
|
|
|
NM_000297.4(PKD2):c.2649del (p.Arg883fs)
|
|
|
NM_000297.4(PKD2):c.2652G>A (p.Leu884=)
|
|
|
NM_000297.4(PKD2):c.2667C>T (p.Ala889=)
|
|
|
NM_000297.4(PKD2):c.2670+12T>C
|
|
|
NM_000297.4(PKD2):c.2671-14T>A
|
|
|
NM_000297.4(PKD2):c.2671-3dup
|
|
|
NM_000297.4(PKD2):c.2671G>T (p.Asp891Tyr)
|
|
|
NM_000297.4(PKD2):c.2687G>A (p.Arg896His)
|
|
|
NM_000297.4(PKD2):c.2692A>C (p.Ser898Arg)
|
|
|
NM_000297.4(PKD2):c.2703T>C (p.His901=)
|
|
|
NM_000297.4(PKD2):c.2707G>C (p.Glu903Gln)
|
|
|
NM_000297.4(PKD2):c.2719C>T (p.Arg907Trp)
|
|
|
NM_000297.4(PKD2):c.2728C>T (p.Arg910Cys)
|
rs377398357
|
|
NM_000297.4(PKD2):c.2729G>A (p.Arg910His)
|
|
|
NM_000297.4(PKD2):c.2729G>C (p.Arg910Pro)
|
rs144590958
|
|
NM_000297.4(PKD2):c.2730T>C (p.Arg910=)
|
|
|
NM_000297.4(PKD2):c.2760T>C (p.Asp920=)
|
|
|
NM_000297.4(PKD2):c.2773A>T (p.Ile925Phe)
|
rs888130252
|
|
NM_000297.4(PKD2):c.2793G>A (p.Thr931=)
|
|
|
NM_000297.4(PKD2):c.2819G>A (p.Arg940His)
|
rs756158263
|
|
NM_000297.4(PKD2):c.2828G>C (p.Ser943Thr)
|
rs2110151913
|
|
NM_000297.4(PKD2):c.2834G>A (p.Arg945His)
|
|
|
NM_000297.4(PKD2):c.2834G>T (p.Arg945Leu)
|
|
|
NM_000297.4(PKD2):c.2846C>G (p.Ser949Cys)
|
rs749666891
|
|
NM_000297.4(PKD2):c.2846C>T (p.Ser949Phe)
|
rs749666891
|
|
NM_000297.4(PKD2):c.2850A>G (p.Gln950=)
|
|
|
NM_000297.4(PKD2):c.2855C>T (p.Thr952Ile)
|
|
|
NM_000297.4(PKD2):c.2891C>G (p.Ser964Cys)
|
|
|
NM_000297.4(PKD2):c.2902G>A (p.Val968Ile)
|
|
|
NM_000297.4(PKD2):c.595+11G>T
|
|
|
NM_000297.4(PKD2):c.595+13G>A
|
|
|
NM_000297.4(PKD2):c.595+16C>T
|
|
|
NM_000297.4(PKD2):c.595+1G>A
|
rs1578111778
|
|
NM_000297.4(PKD2):c.595+2T>C
|
rs1018717398
|
|
NM_000297.4(PKD2):c.595+3A>G
|
|
|
NM_000297.4(PKD2):c.595G>A (p.Gly199Ser)
|
rs1726264964
|
|
NM_000297.4(PKD2):c.605del (p.Gly202fs)
|
rs2110089194
|
|
NM_000297.4(PKD2):c.608C>G (p.Thr203Arg)
|
|
|
NM_000297.4(PKD2):c.608C>T (p.Thr203Ile)
|
|
|
NM_000297.4(PKD2):c.617T>C (p.Met206Thr)
|
|
|
NM_000297.4(PKD2):c.638G>A (p.Arg213Gln)
|
|
|
NM_000297.4(PKD2):c.640G>T (p.Glu214Ter)
|
rs2110089248
|
|
NM_000297.4(PKD2):c.646T>A (p.Tyr216Asn)
|
|
|
NM_000297.4(PKD2):c.655A>C (p.Ser219Arg)
|
|
|
NM_000297.4(PKD2):c.655A>G (p.Ser219Gly)
|
|
|
NM_000297.4(PKD2):c.655_661del (p.Ser219fs)
|
|
|
NM_000297.4(PKD2):c.696A>C (p.Ile232=)
|
|
|
NM_000297.4(PKD2):c.699C>T (p.Val233=)
|
|
|
NM_000297.4(PKD2):c.705C>T (p.Cys235=)
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NM_000297.4(PKD2):c.709+1G>A
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rs398123308
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NM_000297.4(PKD2):c.709+9A>C
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NM_000297.4(PKD2):c.710-1G>A
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rs2110104725
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NM_000297.4(PKD2):c.710-7G>A
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NM_000297.4(PKD2):c.713C>T (p.Thr238Ile)
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NM_000297.4(PKD2):c.718G>A (p.Gly240Ser)
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NM_000297.4(PKD2):c.721A>G (p.Met241Val)
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NM_000297.4(PKD2):c.735T>G (p.Asn245Lys)
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NM_000297.4(PKD2):c.743A>G (p.Tyr248Cys)
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NM_000297.4(PKD2):c.750C>T (p.Thr250=)
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NM_000297.4(PKD2):c.751C>T (p.Arg251Trp)
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NM_000297.4(PKD2):c.764A>C (p.Gln255Pro)
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NM_000297.4(PKD2):c.776A>C (p.Asp259Ala)
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rs768028361
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NM_000297.4(PKD2):c.780C>T (p.Thr260=)
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NM_000297.4(PKD2):c.783dup (p.Val262fs)
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rs2110104877
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NM_000297.4(PKD2):c.813A>G (p.Lys271=)
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NM_000297.4(PKD2):c.814A>G (p.Thr272Ala)
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NM_000297.4(PKD2):c.816del (p.Leu273fs)
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NM_000297.4(PKD2):c.826A>G (p.Met276Val)
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NM_000297.4(PKD2):c.843+57T>C
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rs17786456
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NM_000297.4(PKD2):c.843G>A (p.Lys281=)
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rs1727333486
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NM_000297.4(PKD2):c.843G>C (p.Lys281Asn)
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rs1727333486
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NM_000297.4(PKD2):c.844-19A>G
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NM_000297.4(PKD2):c.844-20G>T
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NM_000297.4(PKD2):c.844-6T>A
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NM_000297.4(PKD2):c.844-7C>A
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NM_000297.4(PKD2):c.847A>G (p.Thr283Ala)
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NM_000297.4(PKD2):c.856T>A (p.Ser286Thr)
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NM_000297.4(PKD2):c.860T>G (p.Leu287Ter)
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rs1727413505
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NM_000297.4(PKD2):c.892A>G (p.Ser298Gly)
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NM_000297.4(PKD2):c.908C>G (p.Ala303Gly)
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NM_000297.4(PKD2):c.911A>T (p.Asp304Val)
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NM_000297.4(PKD2):c.916C>T (p.Arg306Ter)
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rs200001068
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NM_000297.4(PKD2):c.917G>A (p.Arg306Gln)
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NM_000297.4(PKD2):c.932A>G (p.Tyr311Cys)
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NM_000297.4(PKD2):c.940C>T (p.Leu314=)
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NM_000297.4(PKD2):c.958C>T (p.Arg320Ter)
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rs749004212
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NM_000297.4(PKD2):c.965G>T (p.Arg322Leu)
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rs145877597
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NM_000297.4(PKD2):c.966G>T (p.Arg322=)
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NM_000297.4(PKD2):c.972C>T (p.Leu324=)
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NM_000297.4(PKD2):c.997A>G (p.Ile333Val)
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