NM_000297.4(PKD2):c.595+207T>C
|
rs2725235
|
0.78129
|
NM_000297.4(PKD2):c.844-22G>A
|
rs2725221
|
0.66782
|
NM_000297.4(PKD2):c.1716+117A>G
|
rs2725210
|
0.33871
|
NM_000297.4(PKD2):c.1716+310T>C
|
rs2728103
|
0.32205
|
NM_000297.4(PKD2):c.2523-169T>C
|
rs2725203
|
0.31587
|
NM_000297.4(PKD2):c.2019+274C>A
|
rs2725207
|
0.30999
|
NM_000297.4(PKD2):c.2358+245A>T
|
rs11938025
|
0.25379
|
NM_000297.4(PKD2):c.1548+321A>G
|
rs10031265
|
0.21880
|
NM_000297.4(PKD2):c.*256C>T
|
rs2728121
|
0.13098
|
NM_000297.4(PKD2):c.1094+92A>G
|
rs17013735
|
0.10175
|
NM_000297.4(PKD2):c.1094+308T>C
|
rs2725219
|
0.08801
|
NM_000297.4(PKD2):c.1549-137T>C
|
rs2728104
|
0.08736
|
NM_000297.4(PKD2):c.843+218C>A
|
rs2728109
|
0.07940
|
NM_000297.4(PKD2):c.1094+324T>A
|
rs7674673
|
0.05311
|
NM_000297.4(PKD2):c.709+300G>T
|
rs76951105
|
0.03913
|
NM_000297.4(PKD2):c.596-87T>A
|
rs72873461
|
0.03287
|
NM_000297.4(PKD2):c.1549-47C>T
|
rs75331451
|
0.01955
|
NM_000297.4(PKD2):c.596-281C>T
|
rs858
|
0.01827
|
NM_000297.4(PKD2):c.1320-196A>T
|
rs77991231
|
0.01516
|
NM_000297.4(PKD2):c.1548+242T>C
|
rs76491349
|
0.01513
|
NM_000297.4(PKD2):c.2358+288T>A
|
rs188453003
|
0.01148
|
NM_000297.4(PKD2):c.2358+290A>G
|
rs192262797
|
0.01147
|
NM_000297.4(PKD2):c.710-29G>A
|
rs72873478
|
0.01046
|
NM_000297.4(PKD2):c.2358+23G>A
|
rs10516804
|
0.01042
|
NM_000297.4(PKD2):c.1359A>G (p.Pro453=)
|
rs17013754
|
0.00985
|
NM_000297.4(PKD2):c.1549-117G>C
|
rs79352425
|
0.00965
|
NM_000297.4(PKD2):c.*1120C>T
|
rs116540621
|
0.00805
|
NM_000297.4(PKD2):c.2134T>C (p.Leu712=)
|
rs73841280
|
0.00563
|
NM_000297.4(PKD2):c.2119-35T>C
|
rs78885971
|
0.00524
|
NM_000297.4(PKD2):c.843+116A>G
|
rs114532947
|
0.00499
|
NM_000297.4(PKD2):c.2398A>C (p.Met800Leu)
|
rs2234917
|
0.00481
|
NM_000297.4(PKD2):c.2240+114C>T
|
rs1282890679
|
0.00381
|
NM_000297.4(PKD2):c.1319+158G>A
|
rs192899890
|
0.00332
|
NM_000297.4(PKD2):c.2420G>A (p.Arg807Gln)
|
rs147654263
|
0.00312
|
NM_000297.4(PKD2):c.2359-196A>C
|
rs144707808
|
0.00289
|
NM_000297.4(PKD2):c.2411G>A (p.Ser804Asn)
|
rs145343957
|
0.00280
|
NM_000297.4(PKD2):c.*1113G>A
|
rs541524392
|
0.00232
|
NM_000297.4(PKD2):c.1445T>G (p.Phe482Cys)
|
rs75762896
|
0.00176
|
NM_000297.4(PKD2):c.*552G>A
|
rs139787413
|
0.00123
|
NM_000297.4(PKD2):c.1830G>A (p.Ala610=)
|
rs144968710
|
0.00091
|
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.1546G>T (p.Val516Leu)
|
rs143581690
|
0.00028
|
NM_000297.4(PKD2):c.595+15C>T
|
rs559555727
|
0.00026
|
NM_000297.4(PKD2):c.1459T>C (p.Tyr487His)
|
rs201328200
|
0.00014
|
NM_000297.4(PKD2):c.994T>G (p.Ser332Ala)
|
rs200314088
|
0.00013
|
NM_000297.4(PKD2):c.2523-7C>T
|
rs199528409
|
0.00011
|
NM_000297.4(PKD2):c.1433T>G (p.Ile478Ser)
|
rs765496869
|
0.00010
|
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.1549-4T>C
|
rs374450718
|
0.00007
|
NM_000297.4(PKD2):c.1873G>A (p.Asp625Asn)
|
rs757573744
|
0.00005
|
NM_000297.4(PKD2):c.1444T>G (p.Phe482Val)
|
rs201504575
|
0.00004
|
NM_000297.4(PKD2):c.2792C>T (p.Thr931Met)
|
rs368926162
|
0.00004
|
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.2188C>T (p.Arg730Trp)
|
rs749112798
|
0.00002
|
NM_000297.4(PKD2):c.2214T>C (p.Phe738=)
|
rs772819278
|
0.00002
|
NM_000297.4(PKD2):c.1081C>T (p.Arg361Ter)
|
rs1578130676
|
0.00001
|
NM_000297.4(PKD2):c.1093G>A (p.Ala365Thr)
|
rs926203174
|
0.00001
|
NM_000297.4(PKD2):c.1094+1G>A
|
rs58606740
|
0.00001
|
NM_000297.4(PKD2):c.1249C>T (p.Arg417Ter)
|
rs1324209174
|
0.00001
|
NM_000297.4(PKD2):c.1319+1G>A
|
rs1131692280
|
0.00001
|
NM_000297.4(PKD2):c.1724A>G (p.Lys575Arg)
|
rs181037821
|
0.00001
|
NM_000297.4(PKD2):c.1898+5G>A
|
rs1553926929
|
0.00001
|
NM_000297.4(PKD2):c.2139C>T (p.Val713=)
|
rs200707583
|
0.00001
|
NM_000297.4(PKD2):c.2224C>T (p.Arg742Ter)
|
rs121918040
|
0.00001
|
NM_000297.4(PKD2):c.2295T>C (p.Asp765=)
|
rs138982773
|
0.00001
|
NM_000297.4(PKD2):c.2419C>T (p.Arg807Ter)
|
rs1276594505
|
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.2668G>A (p.Glu890Lys)
|
rs770609334
|
0.00001
|
NM_000297.4(PKD2):c.2714T>C (p.Met905Thr)
|
rs373039260
|
0.00001
|
NM_000297.4(PKD2):c.614T>A (p.Leu205His)
|
rs1064796616
|
0.00001
|
NM_000297.4(PKD2):c.621G>A (p.Glu207=)
|
rs769630264
|
0.00001
|
NM_000297.4(PKD2):c.637C>T (p.Arg213Ter)
|
rs1302726543
|
0.00001
|
NM_000297.4(PKD2):c.964C>T (p.Arg322Trp)
|
rs1553925453
|
0.00001
|
NM_000297.4(PKD2):c.965G>A (p.Arg322Gln)
|
rs145877597
|
0.00001
|
NM_000297.4(PKD2):c.973C>T (p.Arg325Ter)
|
rs1060503526
|
0.00001
|
GRCh37/hg19 4q22.1(chr4:88927707-88929365)x1
|
|
|
GRCh37/hg19 4q22.1(chr4:88927707-88929365)x3
|
|
|
GRCh37/hg19 4q22.1(chr4:88928399-88929179)x1
|
|
|
GRCh37/hg19 4q22.1(chr4:88928399-88929365)x1
|
|
|
GRCh37/hg19 4q22.1(chr4:88928399-88930841)x3
|
|
|
GRCh37/hg19 4q22.1(chr4:88928738-88930841)x4
|
|
|
GRCh37/hg19 4q22.1(chr4:88928738-88932272)x0
|
|
|
GRCh37/hg19 4q22.1(chr4:88928738-88932272)x3
|
|
|
GRCh37/hg19 4q22.1(chr4:88928738-88933584)x1
|
|
|
GRCh37/hg19 4q22.1(chr4:88928777-88929230)x3
|
|
|
GRCh37/hg19 4q22.1(chr4:88928816-88929179)x1
|
|
|
GRCh37/hg19 4q22.1(chr4:88928816-88929365)x1
|
|
|
GRCh37/hg19 4q22.1(chr4:88928816-88930841)x1
|
|
|
GRCh37/hg19 4q22.1(chr4:88928877-88929179)x1
|
|
|
GRCh37/hg19 4q22.1(chr4:88928877-88929365)x1
|
|
|
NC_000004.12:g.88007383G>C
|
rs9994525
|
|
NM_000297.4(PKD2):c.*235dup
|
rs200938134
|
|
NM_000297.4(PKD2):c.1039del (p.Val347fs)
|
rs1727423812
|
|
NM_000297.4(PKD2):c.1043A>G (p.Tyr348Cys)
|
|
|
NM_000297.4(PKD2):c.1057G>A (p.Glu353Lys)
|
rs375164861
|
|
NM_000297.4(PKD2):c.1061A>G (p.Asp354Gly)
|
rs1560608801
|
|
NM_000297.4(PKD2):c.1087G>T (p.Gly363Ter)
|
|
|
NM_000297.4(PKD2):c.1094+269G>C
|
rs2725220
|
|
NM_000297.4(PKD2):c.1094+315G>C
|
rs2725218
|
|
NM_000297.4(PKD2):c.1094+3_1094+6del
|
rs1553925470
|
|
NM_000297.4(PKD2):c.1140G>A (p.Trp380Ter)
|
|
|
NM_000297.4(PKD2):c.1158T>G (p.Tyr386Ter)
|
rs571950456
|
|
NM_000297.4(PKD2):c.1193delinsAA (p.Thr398fs)
|
rs1578133684
|
|
NM_000297.4(PKD2):c.1194_1195del (p.Glu400fs)
|
rs1727649413
|
|
NM_000297.4(PKD2):c.1235dup (p.Asn412fs)
|
rs1727650877
|
|
NM_000297.4(PKD2):c.1258A>G (p.Arg420Gly)
|
rs1727651995
|
|
NM_000297.4(PKD2):c.1298T>C (p.Ile433Thr)
|
rs1192846098
|
|
NM_000297.4(PKD2):c.1319+5G>A
|
rs2110112343
|
|
NM_000297.4(PKD2):c.1320G>T (p.Arg440Ser)
|
rs886041114
|
|
NM_000297.4(PKD2):c.1326G>T (p.Leu442Phe)
|
|
|
NM_000297.4(PKD2):c.1345G>C (p.Gly449Arg)
|
rs1727783547
|
|
NM_000297.4(PKD2):c.1346G>T (p.Gly449Val)
|
rs1131408
|
|
NM_000297.4(PKD2):c.1349G>A (p.Gly450Asp)
|
rs1578135842
|
|
NM_000297.4(PKD2):c.1365G>A (p.Trp455Ter)
|
rs1578135870
|
|
NM_000297.4(PKD2):c.1390C>T (p.Arg464Ter)
|
rs121918042
|
|
NM_000297.4(PKD2):c.1548+1G>A
|
rs752024467
|
|
NM_000297.4(PKD2):c.1548+314dup
|
rs35144940
|
|
NM_000297.4(PKD2):c.1548G>A (p.Val516=)
|
|
|
NM_000297.4(PKD2):c.1549-1G>A
|
rs1720121027
|
|
NM_000297.4(PKD2):c.1556T>A (p.Val519Glu)
|
|
|
NM_000297.4(PKD2):c.1587A>T (p.Thr529=)
|
rs375543446
|
|
NM_000297.4(PKD2):c.1641C>A (p.Asn547Lys)
|
|
|
NM_000297.4(PKD2):c.1668dup (p.Gln557fs)
|
rs1578139269
|
|
NM_000297.4(PKD2):c.1671_1678del (p.Phe558fs)
|
rs1553926529
|
|
NM_000297.4(PKD2):c.1716+137del
|
rs70957296
|
|
NM_000297.4(PKD2):c.1717-33C>T
|
|
|
NM_000297.4(PKD2):c.1760C>T (p.Ser587Leu)
|
|
|
NM_000297.4(PKD2):c.1765A>G (p.Thr589Ala)
|
rs777230304
|
|
NM_000297.4(PKD2):c.1796G>A (p.Gly599Asp)
|
rs1560620374
|
|
NM_000297.4(PKD2):c.1837C>T (p.Gln613Ter)
|
rs2110127334
|
|
NM_000297.4(PKD2):c.1899-2A>T
|
|
|
NM_000297.4(PKD2):c.1899-6T>G
|
rs398123306
|
|
NM_000297.4(PKD2):c.1906C>A (p.Gln636Lys)
|
rs398123307
|
|
NM_000297.4(PKD2):c.1912C>T (p.Arg638Cys)
|
|
|
NM_000297.4(PKD2):c.1929dup (p.Ile644fs)
|
rs1720428157
|
|
NM_000297.4(PKD2):c.1960C>T (p.Arg654Ter)
|
rs146396414
|
|
NM_000297.4(PKD2):c.1973del (p.Pro658fs)
|
rs1720429890
|
|
NM_000297.4(PKD2):c.2019+1G>A
|
rs1553927080
|
|
NM_000297.4(PKD2):c.2019+5G>A
|
rs1578142944
|
|
NM_000297.4(PKD2):c.2019G>T (p.Leu673Phe)
|
|
|
NM_000297.4(PKD2):c.2020-158del
|
rs60055635
|
|
NM_000297.4(PKD2):c.2020-158dup
|
rs60055635
|
|
NM_000297.4(PKD2):c.2020-1_2020del
|
rs1553927436
|
|
NM_000297.4(PKD2):c.2050_2053del (p.Tyr684fs)
|
|
|
NM_000297.4(PKD2):c.2051_2053del (p.Tyr684del)
|
rs1578144872
|
|
NM_000297.4(PKD2):c.2101_2102del (p.Ser701fs)
|
rs1578144898
|
|
NM_000297.4(PKD2):c.2118+10dup
|
rs756472871
|
|
NM_000297.4(PKD2):c.2119-1603_2522+740del
|
|
|
NM_000297.4(PKD2):c.2159del (p.Asn720fs)
|
rs757757289
|
|
NM_000297.4(PKD2):c.2159dup (p.Asn720fs)
|
rs757757289
|
|
NM_000297.4(PKD2):c.2164G>T (p.Val722Leu)
|
rs529945469
|
|
NM_000297.4(PKD2):c.2197G>T (p.Gly733Ter)
|
rs778707203
|
|
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.2240+113del
|
rs111465406
|
|
NM_000297.4(PKD2):c.2240+113dup
|
rs111465406
|
|
NM_000297.4(PKD2):c.2240+1G>A
|
rs1553927783
|
|
NM_000297.4(PKD2):c.2240+1G>C
|
rs1553927783
|
|
NM_000297.4(PKD2):c.2241-2A>G
|
rs1560626499
|
|
NM_000297.4(PKD2):c.2274_2275dup (p.Phe759fs)
|
rs1560626561
|
|
NM_000297.4(PKD2):c.2286C>A (p.Tyr762Ter)
|
rs555242193
|
|
NM_000297.4(PKD2):c.2291A>T (p.Gln764Leu)
|
rs1553927827
|
|
NM_000297.4(PKD2):c.2302C>G (p.Gln768Glu)
|
|
|
NM_000297.4(PKD2):c.2305G>T (p.Glu769Ter)
|
rs1255557802
|
|
NM_000297.4(PKD2):c.2318A>G (p.His773Arg)
|
rs748554287
|
|
NM_000297.4(PKD2):c.2358+1G>C
|
rs2110138755
|
|
NM_000297.4(PKD2):c.2358+1G>T
|
|
|
NM_000297.4(PKD2):c.2407C>T (p.Arg803Ter)
|
rs778235410
|
|
NM_000297.4(PKD2):c.2440G>T (p.Glu814Ter)
|
rs1578148821
|
|
NM_000297.4(PKD2):c.2461G>A (p.Gly821Arg)
|
|
|
NM_000297.4(PKD2):c.2498del (p.Gly833fs)
|
|
|
NM_000297.4(PKD2):c.2500G>A (p.Val834Ile)
|
|
|
NM_000297.4(PKD2):c.2527del (p.Leu842_Val843insTer)
|
rs1560632930
|
|
NM_000297.4(PKD2):c.2568dup (p.Val857fs)
|
rs1578153553
|
|
NM_000297.4(PKD2):c.2584del (p.Ala862fs)
|
rs2110150747
|
|
NM_000297.4(PKD2):c.2600T>C (p.Leu867Pro)
|
rs1578153598
|
|
NM_000297.4(PKD2):c.2614C>T (p.Arg872Ter)
|
rs755226061
|
|
NM_000297.4(PKD2):c.2627A>G (p.Lys876Arg)
|
rs2110150855
|
|
NM_000297.4(PKD2):c.2651T>C (p.Leu884Pro)
|
|
|
NM_000297.4(PKD2):c.2670+27G>A
|
|
|
NM_000297.4(PKD2):c.2670G>A (p.Glu890=)
|
rs2110150904
|
|
NM_000297.4(PKD2):c.2719C>T (p.Arg907Trp)
|
|
|
NM_000297.4(PKD2):c.2729G>C (p.Arg910Pro)
|
rs144590958
|
|
NM_000297.4(PKD2):c.2807del (p.Asn936fs)
|
rs1721203306
|
|
NM_000297.4(PKD2):c.2819G>A (p.Arg940His)
|
rs756158263
|
|
NM_000297.4(PKD2):c.2846C>G (p.Ser949Cys)
|
rs749666891
|
|
NM_000297.4(PKD2):c.596-116del
|
rs200521275
|
|
NM_000297.4(PKD2):c.596-116dup
|
rs200521275
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NM_000297.4(PKD2):c.596-1G>T
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rs1560597874
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NM_000297.4(PKD2):c.596-59A>G
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NM_000297.4(PKD2):c.602G>A (p.Trp201Ter)
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rs1726673986
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NM_000297.4(PKD2):c.603G>A (p.Trp201Ter)
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rs1553924158
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NM_000297.4(PKD2):c.681C>A (p.Tyr227Ter)
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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+1G>T
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rs398123308
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NM_000297.4(PKD2):c.709+6T>G
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rs1726679832
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NM_000297.4(PKD2):c.710-10T>C
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NM_000297.4(PKD2):c.710-2A>G
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rs2110104722
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NM_000297.4(PKD2):c.710-4539T>C
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NM_000297.4(PKD2):c.710-6T>C
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rs1578129010
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NM_000297.4(PKD2):c.717C>A (p.Tyr239Ter)
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rs780351760
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NM_000297.4(PKD2):c.773T>C (p.Leu258Pro)
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rs2110104859
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NM_000297.4(PKD2):c.779C>A (p.Thr260Asn)
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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.832G>T (p.Asp278Tyr)
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NM_000297.4(PKD2):c.838T>C (p.Trp280Arg)
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rs2110104970
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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.875A>G (p.Tyr292Cys)
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rs1560608538
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NM_000297.4(PKD2):c.915C>A (p.Asn305Lys)
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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.952dup (p.Val318fs)
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rs2110107069
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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.974G>A (p.Arg325Gln)
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rs1727420867
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NM_000297.4(PKD2):c.992G>A (p.Cys331Tyr)
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rs1578130536
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NM_000297.4(PKD2):c.992G>C (p.Cys331Ser)
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rs1578130536
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