Variants with conflicting interpretations studied for Polycystic kidney disease, adult type

Minimum review status of the submission for Polycystic kidney disease, adult type:		Collection method of the submission for Polycystic kidney disease, adult type:
Minimum review status of the other submission:		Collection method of the other submission:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition	Variants with at least 2 submissions on the same condition and no conflicts	Variants with a synonymous conflict (e.g. benign vs non-pathogenic)	Variants with a confidence conflict (e.g. benign vs likely benign)	Variants with a benign or likely benign vs uncertain conflict	Variants with a category conflict (e.g. benign vs affects)	Variants with a clinically significant conflict (e.g. benign vs pathogenic)	Variants with any conflict
3504	527	0	152	38	2	93	261

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

	All conditions
Polycystic kidney disease, adult type		pathogenic	likely pathogenic	uncertain significance	likely benign	benign	other
	pathogenic	0	108	34	0	1	0
	likely pathogenic	108	0	80	1	1	0
	uncertain significance	34	80	0	33	6	2
	likely benign	0	1	33	0	44	0
	benign	1	1	6	44	0	0
	other	0	0	2	0	0	0

Condition to condition summary #

Total conditions: 1

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Condition	Variants with only 1 submission per condition	Variants with at least 2 submissions on the same condition and no conflicts	Variants with a synonymous conflict (e.g. benign vs non-pathogenic)	Variants with a confidence conflict (e.g. benign vs likely benign)	Variants with a benign or likely benign vs uncertain conflict	Variants with a category conflict (e.g. benign vs affects)	Variants with a clinically significant conflict (e.g. benign vs pathogenic)	Variants with any conflict
Polycystic kidney disease, adult type	3504	527	0	152	38	2	93	261

All variants with conflicting interpretations #

Total variants: 261

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HGVS	dbSNP	gnomAD frequency
NM_001009944.3(PKD1):c.9669G>A (p.Thr3223=)	rs144817614	0.01582
NM_001009944.3(PKD1):c.3424C>T (p.Arg1142Trp)	rs142202785	0.01272
NM_001009944.3(PKD1):c.8679C>G (p.Ser2893=)	rs114143642	0.01226
NM_001009944.3(PKD1):c.8123C>T (p.Thr2708Met)	rs147350387	0.01193
NM_001009944.3(PKD1):c.8020C>T (p.Pro2674Ser)	rs144557371	0.01150
NM_001009944.3(PKD1):c.1323G>A (p.Gly441=)	rs145776888	0.00910
NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr)	rs9209	0.00888
NM_001009944.3(PKD1):c.3935G>A (p.Arg1312Gln)	rs142129358	0.00865
NM_001009944.3(PKD1):c.6598C>T (p.Arg2200Cys)	rs140869992	0.00811
NM_001009944.3(PKD1):c.1710C>T (p.His570=)	rs367983387	0.00775
NM_001009944.3(PKD1):c.11523C>T (p.Asn3841=)	rs113369380	0.00705
NM_001009944.3(PKD1):c.8440G>A (p.Gly2814Arg)	rs149151043	0.00622
NM_001009944.3(PKD1):c.4051C>T (p.Arg1351Trp)	rs55840049	0.00551
NM_001009944.3(PKD1):c.8161+8G>A	rs199569003	0.00547
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys)	rs144979397	0.00495
NM_001009944.3(PKD1):c.11411+18C>T	rs183078730	0.00483
NM_001009944.3(PKD1):c.11934C>T (p.Asp3978=)	rs202207855	0.00479
NM_001009944.3(PKD1):c.12198C>T (p.Cys4066=)	rs116216040	0.00469
NM_001009944.3(PKD1):c.12765C>T (p.Pro4255=)	rs62038811	0.00429
NM_001009944.3(PKD1):c.5611G>A (p.Ala1871Thr)	rs144137200	0.00389
NM_001009944.3(PKD1):c.11346C>T (p.Asp3782=)	rs145955373	0.00360
NM_001009944.3(PKD1):c.971G>T (p.Arg324Leu)	rs199476099	0.00351
NM_001009944.3(PKD1):c.4845C>T (p.Asn1615=)	rs141557400	0.00346
NM_001009944.3(PKD1):c.12826C>T (p.Arg4276Trp)	rs114251396	0.00335
NM_001009944.3(PKD1):c.3296-15G>A	rs201704201	0.00306
NM_001009944.3(PKD1):c.3930C>T (p.Asp1310=)	rs147850232	0.00226
NM_001009944.3(PKD1):c.6749C>T (p.Thr2250Met)	rs139971481	0.00222
NM_001009944.3(PKD1):c.7863+11C>T	rs368629973	0.00214
NM_001009944.3(PKD1):c.10406-4C>T	rs151095649	0.00198
NM_001009944.3(PKD1):c.3183G>A (p.Glu1061=)	rs148727945	0.00165
NM_001009944.3(PKD1):c.7636C>T (p.His2546Tyr)	rs200037070	0.00145
NM_001009944.3(PKD1):c.11538-11C>T	rs377692278	0.00137
NM_001009944.3(PKD1):c.9499A>T (p.Ile3167Phe)	rs139945204	0.00125
NM_001009944.3(PKD1):c.12816C>T (p.Ser4272=)	rs199569478	0.00115
NM_001009944.3(PKD1):c.2109C>T (p.His703=)	rs527655141	0.00097
NM_001009944.3(PKD1):c.3380C>T (p.Pro1127Leu)	rs145922241	0.00077
NM_001009944.3(PKD1):c.4055G>A (p.Ser1352Asn)	rs141274774	0.00067
NM_001009944.3(PKD1):c.3444G>A (p.Pro1148=)	rs117955701	0.00061
NM_001009944.3(PKD1):c.5318C>T (p.Thr1773Ile)	rs140162759	0.00058
NM_001009944.3(PKD1):c.9713-4C>T	rs200434097	0.00058
NM_001009944.3(PKD1):c.11356G>C (p.Glu3786Gln)	rs147992238	0.00053
NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys)	rs148812376	0.00032
NM_001009944.3(PKD1):c.7937T>C (p.Ile2646Thr)	rs374500158	0.00029
NM_001009944.3(PKD1):c.8162-12G>A	rs375993328	0.00022
NM_001009944.3(PKD1):c.288-20G>A	rs572319823	0.00021
NM_001009944.3(PKD1):c.7430G>A (p.Arg2477His)	rs556618384	0.00020
NM_001009944.3(PKD1):c.3600G>A (p.Ala1200=)	rs372882189	0.00019
NM_001009944.3(PKD1):c.12818G>A (p.Arg4273His)	rs200446880	0.00018
NM_001009944.3(PKD1):c.4759C>T (p.Arg1587Cys)	rs773407492	0.00016
NM_001009944.3(PKD1):c.5032G>A (p.Gly1678Ser)	rs146527465	0.00014
NM_001009944.3(PKD1):c.5770G>A (p.Gly1924Ser)	rs199947459	0.00013
NM_001009944.3(PKD1):c.9067A>G (p.Met3023Val)	rs17135779	0.00013
NM_001009944.3(PKD1):c.9898G>A (p.Gly3300Arg)	rs777024498	0.00011
NM_001009944.3(PKD1):c.9022G>A (p.Val3008Met)	rs117896488	0.00010
NM_001009944.3(PKD1):c.6878C>T (p.Pro2293Leu)	rs530832015	0.00008
NM_001009944.3(PKD1):c.11577G>T (p.Pro3859=)	rs374609310	0.00007
NM_001009944.3(PKD1):c.5453C>T (p.Ala1818Val)	rs746910149	0.00007
NM_001009944.3(PKD1):c.1603G>A (p.Gly535Arg)	rs776110243	0.00004
NM_001009944.3(PKD1):c.12864C>G (p.Ser4288Arg)	rs536050342	0.00003
NM_001009944.3(PKD1):c.4709C>T (p.Thr1570Met)	rs368161263	0.00003
NM_001009944.3(PKD1):c.5132C>T (p.Thr1711Ile)	rs750076336	0.00003
NM_001009944.3(PKD1):c.9970G>A (p.Ala3324Thr)	rs1422578175	0.00003
NM_001009944.3(PKD1):c.127C>G (p.Pro43Ala)	rs1114167365	0.00002
NM_001009944.3(PKD1):c.191G>C (p.Arg64Pro)	rs1300272809	0.00002
NM_001009944.3(PKD1):c.6571C>T (p.Arg2191Cys)	rs375006983	0.00002
NM_001009944.3(PKD1):c.788C>A (p.Thr263Asn)	rs900664088	0.00002
NM_001009944.3(PKD1):c.10481C>T (p.Thr3494Met)	rs752503970	0.00001
NM_001009944.3(PKD1):c.12013C>T (p.Gln4005Ter)	rs1567148587	0.00001
NM_001009944.3(PKD1):c.12250C>T (p.Pro4084Ser)	rs1363663761	0.00001
NM_001009944.3(PKD1):c.2279G>T (p.Gly760Val)	rs759750588	0.00001
NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser)	rs199476100	0.00001
NM_001009944.3(PKD1):c.3884A>C (p.Glu1295Ala)	rs746215131	0.00001
NM_001009944.3(PKD1):c.6643C>T (p.Arg2215Trp)	rs752793757	0.00001
NM_001009944.3(PKD1):c.6771G>A (p.Val2257=)	rs770172913	0.00001
NM_001009944.3(PKD1):c.7064C>T (p.Thr2355Met)	rs758620810	0.00001
NM_001009944.3(PKD1):c.7271C>T (p.Thr2424Met)	rs1367567191	0.00001
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys)	rs1057518897	0.00001
NM_001009944.3(PKD1):c.9202-16G>A	rs1389523126	0.00001
NM_001009944.3(PKD1):c.9412G>A (p.Val3138Met)	rs1358566538	0.00001
NM_001009944.3(PKD1):c.10118C>A (p.Ser3373Ter)	rs373222937
NM_001009944.3(PKD1):c.10167+25_10167+43del	rs1197421698
NM_001009944.3(PKD1):c.10348G>T (p.Glu3450Ter)	rs780009030
NM_001009944.3(PKD1):c.10373C>T (p.Pro3458Leu)
NM_001009944.3(PKD1):c.10698GGCTGT[2] (p.3567AV[2])	rs777460677
NM_001009944.3(PKD1):c.10698GGCTGT[4] (p.3567AV[4])	rs777460677
NM_001009944.3(PKD1):c.10725G>A (p.Trp3575Ter)	rs1177764199
NM_001009944.3(PKD1):c.10821+1G>A	rs1596488823
NM_001009944.3(PKD1):c.10821+2T>G
NM_001009944.3(PKD1):c.10822-2A>G	rs2151707926
NM_001009944.3(PKD1):c.10951G>A (p.Gly3651Ser)	rs2091705970
NM_001009944.3(PKD1):c.11017-10C>A	rs555703777
NM_001009944.3(PKD1):c.11249G>A (p.Arg3750Gln)	rs1327414405
NM_001009944.3(PKD1):c.11249_11263del (p.Arg3750_Leu3754del)	rs1567154953
NM_001009944.3(PKD1):c.11258G>A (p.Arg3753Gln)	rs1555446330
NM_001009944.3(PKD1):c.11316C>G (p.Ala3772=)	rs201085734
NM_001009944.3(PKD1):c.11342ACG[3] (p.Asp3782_Val3783insAsp)	rs2091618553
NM_001009944.3(PKD1):c.11375C>A (p.Ser3792Ter)	rs770667157
NM_001009944.3(PKD1):c.11390A>G (p.Tyr3797Cys)	rs138629093
NM_001009944.3(PKD1):c.11411+1G>C	rs2091612821
NM_001009944.3(PKD1):c.11411+1G>T
NM_001009944.3(PKD1):c.11412-1G>C	rs2544621386
NM_001009944.3(PKD1):c.11412-7_11468del	rs2544620556
NM_001009944.3(PKD1):c.11452G>C (p.Gly3818Arg)
NM_001009944.3(PKD1):c.11453G>A (p.Gly3818Asp)	rs1555445740
NM_001009944.3(PKD1):c.11519A>C (p.His3840Pro)	rs2544619758
NM_001009944.3(PKD1):c.11524T>C (p.Trp3842Arg)	rs1057518959
NM_001009944.3(PKD1):c.11546C>A (p.Ala3849Asp)
NM_001009944.3(PKD1):c.1154T>C (p.Leu385Pro)	rs2092665731
NM_001009944.3(PKD1):c.11563_11564del (p.Thr3855fs)	rs1555445585
NM_001009944.3(PKD1):c.11567_11568del (p.Arg3856fs)	rs2544615278
NM_001009944.3(PKD1):c.11614G>C (p.Glu3872Gln)	rs2091577195
NM_001009944.3(PKD1):c.11654_11683del (p.Val3885_Ser3894del)
NM_001009944.3(PKD1):c.11711C>G (p.Ser3904Trp)	rs2091571469
NM_001009944.3(PKD1):c.11773G>T (p.Glu3925Ter)	rs1425693814
NM_001009944.3(PKD1):c.117C>A (p.Cys39Ter)
NM_001009944.3(PKD1):c.11860G>C (p.Ala3954Pro)	rs1424496188
NM_001009944.3(PKD1):c.11863C>T (p.Gln3955Ter)	rs2091493090
NM_001009944.3(PKD1):c.11888G>A (p.Trp3963Ter)
NM_001009944.3(PKD1):c.1189G>T (p.Glu397Ter)
NM_001009944.3(PKD1):c.11916C>G (p.Arg3972=)	rs77634115
NM_001009944.3(PKD1):c.11927G>T (p.Ser3976Ile)	rs1022699284
NM_001009944.3(PKD1):c.1201+1G>A	rs1596588978
NM_001009944.3(PKD1):c.1202-1G>A	rs2151822688
NM_001009944.3(PKD1):c.12139-1G>A
NM_001009944.3(PKD1):c.12215_12216del (p.Ser4072fs)	rs2544588372
NM_001009944.3(PKD1):c.12267del (p.Leu4090fs)	rs2544587268
NM_001009944.3(PKD1):c.12410T>C (p.Leu4137Pro)
NM_001009944.3(PKD1):c.12448C>T (p.Arg4150Cys)	rs1282668884
NM_001009944.3(PKD1):c.12449G>A (p.Arg4150His)	rs36221080
NM_001009944.3(PKD1):c.12465T>G (p.Phe4155Leu)	rs2091413514
NM_001009944.3(PKD1):c.12489_12490del (p.Arg4164fs)	rs2091411664
NM_001009944.3(PKD1):c.12514del (p.Ser4172fs)	rs1555444225
NM_001009944.3(PKD1):c.12577C>T (p.Gln4193Ter)	rs2544579185
NM_001009944.3(PKD1):c.1261C>T (p.Arg421Cys)	rs1567216536
NM_001009944.3(PKD1):c.12646C>T (p.Gln4216Ter)
NM_001009944.3(PKD1):c.12682C>T (p.Arg4228Ter)	rs199476095
NM_001009944.3(PKD1):c.12691C>T (p.Gln4231Ter)	rs755496450
NM_001009944.3(PKD1):c.12712C>T (p.Gln4238Ter)	rs1045675831
NM_001009944.3(PKD1):c.12721C>T (p.Gln4241Ter)	rs2091391674
NM_001009944.3(PKD1):c.1295C>T (p.Ala432Val)	rs1060499699
NM_001009944.3(PKD1):c.1391T>C (p.Leu464Pro)
NM_001009944.3(PKD1):c.1396G>A (p.Val466Met)	rs2855341
NM_001009944.3(PKD1):c.1418_1419del (p.Val473fs)	rs2151820943
NM_001009944.3(PKD1):c.1522T>C (p.Cys508Arg)	rs58598099
NM_001009944.3(PKD1):c.1543G>A (p.Gly515Arg)	rs1555458704
NM_001009944.3(PKD1):c.1544G>T (p.Gly515Val)	rs2092647090
NM_001009944.3(PKD1):c.1585G>A (p.Val529Ile)
NM_001009944.3(PKD1):c.1606+5G>A	rs2092646077
NM_001009944.3(PKD1):c.1831C>T (p.Arg611Trp)	rs1555458413
NM_001009944.3(PKD1):c.1910C>T (p.Ala637Val)	rs1324355778
NM_001009944.3(PKD1):c.1991C>T (p.Ala664Val)	rs781018494
NM_001009944.3(PKD1):c.2038del (p.Tyr680fs)	rs1448641464
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro)	rs1616940
NM_001009944.3(PKD1):c.2180T>G (p.Leu727Arg)	rs1616940
NM_001009944.3(PKD1):c.22_25dup (p.Leu9fs)
NM_001009944.3(PKD1):c.230A>G (p.Asn77Ser)	rs2092686792
NM_001009944.3(PKD1):c.2534T>A (p.Leu845Ter)	rs199476100
NM_001009944.3(PKD1):c.297CAA[2] (p.Asn101del)	rs2544885084
NM_001009944.3(PKD1):c.3101A>G (p.Asn1034Ser)	rs28681051
NM_001009944.3(PKD1):c.3162-1G>C	rs2544837759
NM_001009944.3(PKD1):c.3165G>A (p.Trp1055Ter)	rs1596566550
NM_001009944.3(PKD1):c.3170T>C (p.Phe1057Ser)	rs2151804604
NM_001009944.3(PKD1):c.3202C>T (p.Gln1068Ter)	rs2092538738
NM_001009944.3(PKD1):c.3262_3263insT (p.Glu1088fs)	rs1596566156
NM_001009944.3(PKD1):c.3295+1G>A
NM_001009944.3(PKD1):c.3296-1G>A	rs1567204631
NM_001009944.3(PKD1):c.3381_3387dup (p.Ala1130fs)	rs2544831329
NM_001009944.3(PKD1):c.3401_3404del (p.Ser1134fs)	rs1567204146
NM_001009944.3(PKD1):c.341_345del (p.Asn113_Leu114insTer)	rs2544884834
NM_001009944.3(PKD1):c.3490G>A (p.Gly1164Arg)	rs2151801188
NM_001009944.3(PKD1):c.359+5G>A	rs2092683412
NM_001009944.3(PKD1):c.359T>C (p.Ile120Thr)	rs1555459345
NM_001009944.3(PKD1):c.3613G>C (p.Asp1205His)
NM_001009944.3(PKD1):c.3716ACA[1] (p.Asn1240del)	rs1567202750
NM_001009944.3(PKD1):c.3743G>A (p.Gly1248Glu)
NM_001009944.3(PKD1):c.3860T>C (p.Leu1287Pro)	rs2544827223
NM_001009944.3(PKD1):c.3941C>T (p.Thr1314Met)
NM_001009944.3(PKD1):c.3955G>A (p.Gly1319Arg)	rs747362311
NM_001009944.3(PKD1):c.4136A>G (p.Glu1379Gly)	rs149210297
NM_001009944.3(PKD1):c.4165_4166del (p.Arg1389fs)	rs1555456208
NM_001009944.3(PKD1):c.4346ACA[1] (p.Asn1450del)	rs2092482302
NM_001009944.3(PKD1):c.4394C>T (p.Pro1465Leu)	rs777140825
NM_001009944.3(PKD1):c.4499G>A (p.Trp1500Ter)
NM_001009944.3(PKD1):c.4507G>A (p.Gly1503Arg)	rs2092478372
NM_001009944.3(PKD1):c.4630G>A (p.Val1544Met)	rs2544820023
NM_001009944.3(PKD1):c.464G>A (p.Cys155Tyr)
NM_001009944.3(PKD1):c.4825ATC[1] (p.Ile1610del)	rs1567198691
NM_001009944.3(PKD1):c.4957C>T (p.Gln1653Ter)	rs1596557065
NM_001009944.3(PKD1):c.4988_4990del (p.Ser1663del)	rs1596556896
NM_001009944.3(PKD1):c.5478G>A (p.Trp1826Ter)	rs2544812084
NM_001009944.3(PKD1):c.5494G>A (p.Gly1832Ser)	rs2151792963
NM_001009944.3(PKD1):c.5515T>C (p.Trp1839Arg)
NM_001009944.3(PKD1):c.5609A>G (p.Asn1870Ser)	rs2544811132
NM_001009944.3(PKD1):c.5609A>T (p.Asn1870Ile)
NM_001009944.3(PKD1):c.5882C>T (p.Ala1961Val)	rs375440448
NM_001009944.3(PKD1):c.5995G>A (p.Gly1999Ser)	rs2092437527
NM_001009944.3(PKD1):c.6331G>T (p.Glu2111Ter)
NM_001009944.3(PKD1):c.6382A>G (p.Asn2128Asp)	rs2151788281
NM_001009944.3(PKD1):c.6384C>G (p.Asn2128Lys)	rs1247882278
NM_001009944.3(PKD1):c.6394TTC[1] (p.Phe2133del)	rs1555454460
NM_001009944.3(PKD1):c.6499A>G (p.Asn2167Asp)	rs2151787670
NM_001009944.3(PKD1):c.6535G>A (p.Val2179Ile)
NM_001009944.3(PKD1):c.6576_6582del (p.Cys2195fs)
NM_001009944.3(PKD1):c.6657_6671del (p.Arg2220_Pro2224del)	rs2151786683
NM_001009944.3(PKD1):c.6683A>G (p.Tyr2228Cys)	rs1596550613
NM_001009944.3(PKD1):c.6752_6754del (p.Val2251del)	rs1596550396
NM_001009944.3(PKD1):c.6813_6814del (p.Arg2272fs)	rs1567191145
NM_001009944.3(PKD1):c.6842C>T (p.Ser2281Phe)
NM_001009944.3(PKD1):c.7065+1G>A	rs2151783532
NM_001009944.3(PKD1):c.7108T>A (p.Cys2370Ser)
NM_001009944.3(PKD1):c.7108T>C (p.Cys2370Arg)	rs1567187445
NM_001009944.3(PKD1):c.7109G>A (p.Cys2370Tyr)
NM_001009944.3(PKD1):c.7115C>G (p.Ser2372Cys)	rs2544784984
NM_001009944.3(PKD1):c.7209+1G>A
NM_001009944.3(PKD1):c.7271C>G (p.Thr2424Arg)	rs1367567191
NM_001009944.3(PKD1):c.7300C>T (p.Arg2434Trp)	rs151257298
NM_001009944.3(PKD1):c.7483T>C (p.Cys2495Arg)	rs2092338268
NM_001009944.3(PKD1):c.7484G>A (p.Cys2495Tyr)	rs2544780036
NM_001009944.3(PKD1):c.7489+5G>A	rs2092337963
NM_001009944.3(PKD1):c.7546C>T (p.Arg2516Cys)	rs797044902
NM_001009944.3(PKD1):c.7567GAG[1] (p.Glu2524del)	rs1555452876
NM_001009944.3(PKD1):c.7703G>A (p.Arg2568Lys)	rs2092327300
NM_001009944.3(PKD1):c.7837_7839del (p.Leu2613del)	rs2544775052
NM_001009944.3(PKD1):c.7903G>T (p.Glu2635Ter)	rs778979740
NM_001009944.3(PKD1):c.7927C>T (p.Arg2643Cys)	rs1452322332
NM_001009944.3(PKD1):c.7987C>T (p.Gln2663Ter)	rs1567182193
NM_001009944.3(PKD1):c.7992C>T (p.Ile2664=)	rs537012440
NM_001009944.3(PKD1):c.8161+1G>T	rs2544757259
NM_001009944.3(PKD1):c.8162-2A>G	rs2092209753
NM_001009944.3(PKD1):c.8203_8204del (p.Gln2735fs)	rs1596527744
NM_001009944.3(PKD1):c.8224G>A (p.Glu2742Lys)	rs202159463
NM_001009944.3(PKD1):c.8284_8295del (p.Ile2762_Arg2765del)	rs1596527370
NM_001009944.3(PKD1):c.8284_8295dup (p.Ile2762_Arg2765dup)	rs1596527370
NM_001009944.3(PKD1):c.8288T>C (p.Leu2763Pro)	rs2092204260
NM_001009944.3(PKD1):c.8299C>G (p.Arg2767Gly)
NM_001009944.3(PKD1):c.8299C>T (p.Arg2767Cys)	rs2092203712
NM_001009944.3(PKD1):c.8302G>T (p.Val2768Leu)	rs1456510041
NM_001009944.3(PKD1):c.8447T>C (p.Leu2816Pro)	rs1567177684
NM_001009944.3(PKD1):c.8672CCAACTCCG[3] (p.2891ANS[3])	rs763199524
NM_001009944.3(PKD1):c.8896G>T (p.Glu2966Ter)	rs773129632
NM_001009944.3(PKD1):c.8932TTC[1] (p.Phe2979del)	rs1358948221
NM_001009944.3(PKD1):c.8948+12G>A	rs369347070
NM_001009944.3(PKD1):c.896_897del (p.Pro299fs)	rs1555459084
NM_001009944.3(PKD1):c.8998C>G (p.Arg3000Gly)
NM_001009944.3(PKD1):c.9100GAG[1] (p.Glu3035del)	rs2544733084
NM_001009944.3(PKD1):c.9154G>C (p.Gly3052Arg)
NM_001009944.3(PKD1):c.9157G>A (p.Ala3053Thr)	rs200360336
NM_001009944.3(PKD1):c.9186C>A (p.Val3062=)
NM_001009944.3(PKD1):c.9201+5G>A	rs1596521826
NM_001009944.3(PKD1):c.9377C>T (p.Thr3126Ile)	rs1567173560
NM_001009944.3(PKD1):c.9395C>T (p.Ser3132Leu)	rs2092119222
NM_001009944.3(PKD1):c.9397+3G>C	rs1555450109
NM_001009944.3(PKD1):c.9398-2A>G	rs2151742515
NM_001009944.3(PKD1):c.9404C>T (p.Thr3135Met)	rs1555449635
NM_001009944.3(PKD1):c.9407C>T (p.Ala3136Val)
NM_001009944.3(PKD1):c.9425T>C (p.Leu3142Pro)	rs2092051851
NM_001009944.3(PKD1):c.9521A>C (p.His3174Pro)	rs769045618
NM_001009944.3(PKD1):c.9611A>T (p.Asp3204Val)	rs1596513913
NM_001009944.3(PKD1):c.974A>G (p.Tyr325Cys)	rs1232180956
NM_001009944.3(PKD1):c.9856CTC[1] (p.Leu3287del)	rs2092020811
NM_001009944.3(PKD1):c.9889G>A (p.Val3297Met)	rs775497330

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