ClinVar Miner

List of variants in gene PKHD1 reported as uncertain significance by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
ClinVar version:
Total variants: 439
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HGVS dbSNP
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg) rs149798764
NM_138694.4(PKHD1):c.10150A>C (p.Asn3384His) rs752841263
NM_138694.4(PKHD1):c.1018G>A (p.Gly340Arg) rs368351830
NM_138694.4(PKHD1):c.10210A>G (p.Ile3404Val)
NM_138694.4(PKHD1):c.10251C>T (p.Ser3417=)
NM_138694.4(PKHD1):c.10252G>A (p.Ala3418Thr)
NM_138694.4(PKHD1):c.10354A>G (p.Thr3452Ala) rs562503637
NM_138694.4(PKHD1):c.10411G>A (p.Val3471Ile)
NM_138694.4(PKHD1):c.10452T>G (p.Phe3484Leu)
NM_138694.4(PKHD1):c.10492G>A (p.Val3498Ile)
NM_138694.4(PKHD1):c.10514G>A (p.Ser3505Asn)
NM_138694.4(PKHD1):c.10524C>A (p.Val3508=) rs1562042503
NM_138694.4(PKHD1):c.10531G>A (p.Gly3511Arg)
NM_138694.4(PKHD1):c.10591A>G (p.Ile3531Val)
NM_138694.4(PKHD1):c.1059G>T (p.Gln353His) rs1317226081
NM_138694.4(PKHD1):c.10619A>G (p.Asp3540Gly) rs539832575
NM_138694.4(PKHD1):c.10651G>A (p.Glu3551Lys) rs751593192
NM_138694.4(PKHD1):c.10666C>T (p.Arg3556Cys) rs201534300
NM_138694.4(PKHD1):c.10684C>A (p.His3562Asn) rs140419956
NM_138694.4(PKHD1):c.10744G>A (p.Glu3582Lys) rs148300854
NM_138694.4(PKHD1):c.10780C>A (p.Gln3594Lys) rs1562041176
NM_138694.4(PKHD1):c.10836T>C (p.Ala3612=) rs886042607
NM_138694.4(PKHD1):c.10859G>A (p.Arg3620His) rs149163661
NM_138694.4(PKHD1):c.10893T>C (p.Tyr3631=) rs1290859259
NM_138694.4(PKHD1):c.10909C>T (p.Arg3637Cys) rs141349745
NM_138694.4(PKHD1):c.10910G>A (p.Arg3637His) rs371329493
NM_138694.4(PKHD1):c.10926G>A (p.Met3642Ile) rs78518523
NM_138694.4(PKHD1):c.10940A>C (p.His3647Pro) rs139442289
NM_138694.4(PKHD1):c.10951C>A (p.Pro3651Thr) rs1220149658
NM_138694.4(PKHD1):c.10968A>G (p.Glu3656=) rs1303599332
NM_138694.4(PKHD1):c.10973T>C (p.Ile3658Thr) rs142536551
NM_138694.4(PKHD1):c.11002G>T (p.Asp3668Tyr) rs114237522
NM_138694.4(PKHD1):c.11007G>A (p.Ser3669=) rs142855690
NM_138694.4(PKHD1):c.11101G>A (p.Val3701Ile) rs979287276
NM_138694.4(PKHD1):c.11123T>C (p.Met3708Thr) rs373896034
NM_138694.4(PKHD1):c.11130C>T (p.Ile3710=) rs146224907
NM_138694.4(PKHD1):c.11161G>A (p.Val3721Ile) rs1305304437
NM_138694.4(PKHD1):c.11210A>G (p.Tyr3737Cys) rs1206336265
NM_138694.4(PKHD1):c.11245C>T (p.Pro3749Ser) rs1562020310
NM_138694.4(PKHD1):c.11322A>C (p.Val3774=) rs1388812392
NM_138694.4(PKHD1):c.11378C>T (p.Ala3793Val) rs1299129734
NM_138694.4(PKHD1):c.11400G>A (p.Gly3800=) rs149427926
NM_138694.4(PKHD1):c.1148C>A (p.Pro383Gln) rs1417895348
NM_138694.4(PKHD1):c.11539G>T (p.Ala3847Ser) rs769135174
NM_138694.4(PKHD1):c.11607C>T (p.Ala3869=) rs752509045
NM_138694.4(PKHD1):c.11785+1_11785+35del
NM_138694.4(PKHD1):c.11786-3C>A
NM_138694.4(PKHD1):c.11789T>A (p.Met3930Lys) rs148691090
NM_138694.4(PKHD1):c.11800G>A (p.Val3934Ile) rs149111536
NM_138694.4(PKHD1):c.11818A>T (p.Asn3940Tyr) rs757479262
NM_138694.4(PKHD1):c.11836T>C (p.Leu3946=) rs35403035
NM_138694.4(PKHD1):c.11844T>C (p.Asn3948=) rs199564783
NM_138694.4(PKHD1):c.11912G>A (p.Gly3971Asp)
NM_138694.4(PKHD1):c.1201C>A (p.His401Asn)
NM_138694.4(PKHD1):c.12027C>G (p.Tyr4009Ter) rs143616240
NM_138694.4(PKHD1):c.12094C>T (p.Pro4032Ser)
NM_138694.4(PKHD1):c.12106C>T (p.Arg4036Trp) rs201210830
NM_138694.4(PKHD1):c.12107G>A (p.Arg4036Gln)
NM_138694.4(PKHD1):c.12110T>C (p.Leu4037Pro) rs199900211
NM_138694.4(PKHD1):c.12147G>A (p.Glu4049=) rs1561967407
NM_138694.4(PKHD1):c.12163G>A (p.Gly4055Arg)
NM_138694.4(PKHD1):c.12198C>T (p.His4066=) rs147051900
NM_138694.4(PKHD1):c.12201G>A (p.Pro4067=) rs750988521
NM_138694.4(PKHD1):c.12213G>A (p.Gln4071=) rs1406924877
NM_138694.4(PKHD1):c.12225A>T (p.Ter4075Cys) rs1347911533
NM_138694.4(PKHD1):c.1225A>G (p.Arg409Gly)
NM_138694.4(PKHD1):c.122T>G (p.Ile41Ser) rs886043527
NM_138694.4(PKHD1):c.1234-9T>C rs200707468
NM_138694.4(PKHD1):c.1255G>A (p.Val419Ile)
NM_138694.4(PKHD1):c.1257C>T (p.Val419=)
NM_138694.4(PKHD1):c.1285G>C (p.Glu429Gln) rs372376237
NM_138694.4(PKHD1):c.1288C>A (p.Gln430Lys) rs727504094
NM_138694.4(PKHD1):c.128A>G (p.Asp43Gly)
NM_138694.4(PKHD1):c.129T>C (p.Asp43=) rs201195801
NM_138694.4(PKHD1):c.130+9G>A rs367608402
NM_138694.4(PKHD1):c.1307C>G (p.Thr436Ser) rs146789444
NM_138694.4(PKHD1):c.131G>T (p.Gly44Val) rs727504097
NM_138694.4(PKHD1):c.1342G>C (p.Gly448Arg) rs149781976
NM_138694.4(PKHD1):c.143G>A (p.Gly48Asp)
NM_138694.4(PKHD1):c.143G>T (p.Gly48Val)
NM_138694.4(PKHD1):c.1512+9C>G
NM_138694.4(PKHD1):c.1565C>T (p.Ser522Phe)
NM_138694.4(PKHD1):c.1576A>G (p.Ile526Val) rs142608481
NM_138694.4(PKHD1):c.1602+4G>A rs374817290
NM_138694.4(PKHD1):c.1639T>C (p.Cys547Arg) rs1562248576
NM_138694.4(PKHD1):c.164G>A (p.Gly55Asp)
NM_138694.4(PKHD1):c.1652C>T (p.Pro551Leu) rs727504093
NM_138694.4(PKHD1):c.1674C>T (p.Leu558=) rs1562248370
NM_138694.4(PKHD1):c.1676G>A (p.Arg559Gln) rs142896856
NM_138694.4(PKHD1):c.1691G>A (p.Arg564Gln)
NM_138694.4(PKHD1):c.1693+9C>T
NM_138694.4(PKHD1):c.1737G>A (p.Thr579=) rs765871629
NM_138694.4(PKHD1):c.1765C>T (p.Arg589Cys)
NM_138694.4(PKHD1):c.1796C>T (p.Pro599Leu) rs199941159
NM_138694.4(PKHD1):c.1829A>G (p.Tyr610Cys) rs199846197
NM_138694.4(PKHD1):c.1833A>C (p.Thr611=)
NM_138694.4(PKHD1):c.1849T>C (p.Tyr617His) rs141177165
NM_138694.4(PKHD1):c.1913T>C (p.Met638Thr) rs181546197
NM_138694.4(PKHD1):c.1925C>T (p.Thr642Ile) rs138968608
NM_138694.4(PKHD1):c.193G>A (p.Val65Met) rs749853418
NM_138694.4(PKHD1):c.1974C>T (p.Phe658=) rs199635188
NM_138694.4(PKHD1):c.1978T>C (p.Cys660Arg) rs727504092
NM_138694.4(PKHD1):c.2005C>G (p.Arg669Gly)
NM_138694.4(PKHD1):c.2006G>A (p.Arg669His) rs200497761
NM_138694.4(PKHD1):c.2050C>A (p.Leu684Met) rs727504091
NM_138694.4(PKHD1):c.2079G>T (p.Leu693=) rs746441159
NM_138694.4(PKHD1):c.2090C>T (p.Thr697Met) rs377415956
NM_138694.4(PKHD1):c.2091G>A (p.Thr697=) rs147826962
NM_138694.4(PKHD1):c.2093G>A (p.Gly698Asp) rs199858063
NM_138694.4(PKHD1):c.2134G>C (p.Val712Leu) rs144455663
NM_138694.4(PKHD1):c.2141-3T>C
NM_138694.4(PKHD1):c.2167C>T (p.Arg723Cys) rs794727366
NM_138694.4(PKHD1):c.2172_2174del (p.Gly726del) rs763682158
NM_138694.4(PKHD1):c.217C>T (p.Arg73Trp) rs567357782
NM_138694.4(PKHD1):c.2180A>G (p.Asn727Ser) rs727504090
NM_138694.4(PKHD1):c.2194G>T (p.Val732Phe) rs201432731
NM_138694.4(PKHD1):c.2217G>A (p.Pro739=) rs373367366
NM_138694.4(PKHD1):c.2217G>T (p.Pro739=) rs373367366
NM_138694.4(PKHD1):c.2243C>T (p.Ala748Val) rs141622697
NM_138694.4(PKHD1):c.2244G>A (p.Ala748=) rs886043022
NM_138694.4(PKHD1):c.2255C>T (p.Thr752Met) rs200654041
NM_138694.4(PKHD1):c.2265G>A (p.Pro755=) rs375603741
NM_138694.4(PKHD1):c.2269A>C (p.Ile757Leu) rs777183511
NM_138694.4(PKHD1):c.2279+13T>G rs188914598
NM_138694.4(PKHD1):c.2280-10C>T rs749295454
NM_138694.4(PKHD1):c.2280-4A>T
NM_138694.4(PKHD1):c.2280-9G>A rs376576760
NM_138694.4(PKHD1):c.2293G>A (p.Glu765Lys) rs1554211410
NM_138694.4(PKHD1):c.2330C>T (p.Thr777Met)
NM_138694.4(PKHD1):c.2347C>T (p.Arg783Trp)
NM_138694.4(PKHD1):c.2372A>G (p.His791Arg) rs754581415
NM_138694.4(PKHD1):c.2378G>A (p.Arg793His) rs138620202
NM_138694.4(PKHD1):c.2407+5A>G
NM_138694.4(PKHD1):c.2444A>G (p.Gln815Arg)
NM_138694.4(PKHD1):c.2448C>T (p.Leu816=) rs771790015
NM_138694.4(PKHD1):c.2463C>T (p.Ala821=)
NM_138694.4(PKHD1):c.2495G>A (p.Ser832Asn) rs1562221186
NM_138694.4(PKHD1):c.2576T>G (p.Leu859Trp)
NM_138694.4(PKHD1):c.2577G>A (p.Leu859=) rs747583853
NM_138694.4(PKHD1):c.258G>A (p.Leu86=) rs1562305126
NM_138694.4(PKHD1):c.2593-10A>G
NM_138694.4(PKHD1):c.2607C>T (p.Asn869=) rs147051973
NM_138694.4(PKHD1):c.2610T>C (p.Leu870=)
NM_138694.4(PKHD1):c.2637G>A (p.Thr879=) rs147915980
NM_138694.4(PKHD1):c.2639G>A (p.Arg880His) rs886042298
NM_138694.4(PKHD1):c.2697T>A (p.Thr899=) rs1562217633
NM_138694.4(PKHD1):c.270A>G (p.Thr90=) rs886044598
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp) rs370277502
NM_138694.4(PKHD1):c.275G>A (p.Arg92Gln) rs145886657
NM_138694.4(PKHD1):c.2781A>G (p.Gln927=) rs200511208
NM_138694.4(PKHD1):c.2788A>G (p.Thr930Ala) rs144387673
NM_138694.4(PKHD1):c.2795G>A (p.Cys932Tyr) rs1329209110
NM_138694.4(PKHD1):c.282-3C>T
NM_138694.4(PKHD1):c.2822-10C>A
NM_138694.4(PKHD1):c.2825G>C (p.Gly942Ala) rs142205860
NM_138694.4(PKHD1):c.2876C>T (p.Ser959Phe)
NM_138694.4(PKHD1):c.2894C>T (p.Thr965Ile) rs1554208153
NM_138694.4(PKHD1):c.2929A>G (p.Asn977Asp) rs749030797
NM_138694.4(PKHD1):c.2961G>T (p.Leu987Phe) rs398124482
NM_138694.4(PKHD1):c.2971G>A (p.Gly991Arg) rs794727447
NM_138694.4(PKHD1):c.2981G>A (p.Arg994Gln) rs753169961
NM_138694.4(PKHD1):c.2989A>G (p.Met997Val) rs979700489
NM_138694.4(PKHD1):c.3009T>C (p.Gly1003=) rs886042383
NM_138694.4(PKHD1):c.3043C>G (p.Leu1015Val) rs1272367929
NM_138694.4(PKHD1):c.3048T>C (p.Asn1016=) rs138989655
NM_138694.4(PKHD1):c.3073G>C (p.Glu1025Gln)
NM_138694.4(PKHD1):c.3075G>T (p.Glu1025Asp) rs746461184
NM_138694.4(PKHD1):c.3084A>G (p.Arg1028=) rs754425809
NM_138694.4(PKHD1):c.3089C>T (p.Ala1030Val)
NM_138694.4(PKHD1):c.3098-3C>T rs368231573
NM_138694.4(PKHD1):c.3119G>A (p.Arg1040Gln) rs751832041
NM_138694.4(PKHD1):c.3122G>A (p.Gly1041Asp) rs794727466
NM_138694.4(PKHD1):c.3148A>G (p.Ile1050Val) rs727504088
NM_138694.4(PKHD1):c.3241C>T (p.Arg1081Cys) rs200986136
NM_138694.4(PKHD1):c.3242G>A (p.Arg1081His) rs201123815
NM_138694.4(PKHD1):c.3259G>C (p.Val1087Leu)
NM_138694.4(PKHD1):c.3275A>G (p.Tyr1092Cys) rs1249309896
NM_138694.4(PKHD1):c.3320A>G (p.Asn1107Ser) rs1162008544
NM_138694.4(PKHD1):c.3329T>C (p.Ile1110Thr)
NM_138694.4(PKHD1):c.333C>T (p.Phe111=) rs145815264
NM_138694.4(PKHD1):c.334G>A (p.Gly112Arg) rs149841071
NM_138694.4(PKHD1):c.3373A>C (p.Thr1125Pro) rs144365187
NM_138694.4(PKHD1):c.3393G>A (p.Ala1131=) rs1562177292
NM_138694.4(PKHD1):c.3411G>A (p.Thr1137=)
NM_138694.4(PKHD1):c.3432C>T (p.His1144=)
NM_138694.4(PKHD1):c.3452C>T (p.Pro1151Leu)
NM_138694.4(PKHD1):c.3526G>A (p.Val1176Ile) rs565045703
NM_138694.4(PKHD1):c.3604G>A (p.Glu1202Lys) rs554956088
NM_138694.4(PKHD1):c.3620C>G (p.Ser1207Cys) rs1562174999
NM_138694.4(PKHD1):c.3627G>A (p.Leu1209=) rs182216709
NM_138694.4(PKHD1):c.3628+9C>A
NM_138694.4(PKHD1):c.3643A>T (p.Ser1215Cys)
NM_138694.4(PKHD1):c.3703C>T (p.Arg1235Trp) rs376121326
NM_138694.4(PKHD1):c.371G>A (p.Arg124Gln)
NM_138694.4(PKHD1):c.3729G>A (p.Thr1243=) rs759084914
NM_138694.4(PKHD1):c.3731A>C (p.Glu1244Ala) rs886043209
NM_138694.4(PKHD1):c.3779C>T (p.Ala1260Val)
NM_138694.4(PKHD1):c.3783C>T (p.Gly1261=) rs138388301
NM_138694.4(PKHD1):c.3817G>C (p.Ala1273Pro)
NM_138694.4(PKHD1):c.3828G>A (p.Arg1276=) rs1373102999
NM_138694.4(PKHD1):c.3834C>T (p.Phe1278=) rs145960781
NM_138694.4(PKHD1):c.3838C>T (p.Arg1280Cys) rs144042993
NM_138694.4(PKHD1):c.3851C>T (p.Pro1284Leu) rs139838478
NM_138694.4(PKHD1):c.3904G>A (p.Val1302Ile) rs141972092
NM_138694.4(PKHD1):c.3953A>T (p.His1318Leu)
NM_138694.4(PKHD1):c.4009G>A (p.Asp1337Asn) rs373255125
NM_138694.4(PKHD1):c.400G>A (p.Ala134Thr) rs536456650
NM_138694.4(PKHD1):c.4017G>C (p.Glu1339Asp) rs886043210
NM_138694.4(PKHD1):c.4019C>G (p.Thr1340Arg)
NM_138694.4(PKHD1):c.401C>T (p.Ala134Val)
NM_138694.4(PKHD1):c.4038C>T (p.Asn1346=) rs147584295
NM_138694.4(PKHD1):c.4105C>A (p.Arg1369Ser)
NM_138694.4(PKHD1):c.4105C>T (p.Arg1369Cys) rs368974211
NM_138694.4(PKHD1):c.4112A>C (p.Lys1371Thr) rs1554199021
NM_138694.4(PKHD1):c.4130A>C (p.Asn1377Thr) rs773345692
NM_138694.4(PKHD1):c.4169G>A (p.Arg1390Gln) rs139063552
NM_138694.4(PKHD1):c.4199C>T (p.Ser1400Leu) rs191201723
NM_138694.4(PKHD1):c.4257G>A (p.Arg1419=) rs577832997
NM_138694.4(PKHD1):c.4264C>T (p.Arg1422Trp)
NM_138694.4(PKHD1):c.4265G>C (p.Arg1422Pro) rs557773345
NM_138694.4(PKHD1):c.4266G>A (p.Arg1422=)
NM_138694.4(PKHD1):c.4277C>T (p.Ser1426Leu) rs771702541
NM_138694.4(PKHD1):c.4292G>A (p.Cys1431Tyr) rs753307105
NM_138694.4(PKHD1):c.4304G>C (p.Ser1435Thr) rs138242579
NM_138694.4(PKHD1):c.4341G>A (p.Leu1447=) rs1562165566
NM_138694.4(PKHD1):c.434C>G (p.Pro145Arg) rs146649894
NM_138694.4(PKHD1):c.4380C>T (p.Asn1460=) rs371934160
NM_138694.4(PKHD1):c.4447G>A (p.Glu1483Lys) rs146745096
NM_138694.4(PKHD1):c.4450G>A (p.Ala1484Thr) rs144905283
NM_138694.4(PKHD1):c.445C>T (p.Pro149Ser) rs886042420
NM_138694.4(PKHD1):c.449-6A>T rs200204976
NM_138694.4(PKHD1):c.4513A>G (p.Arg1505Gly) rs1271610315
NM_138694.4(PKHD1):c.4514G>A (p.Arg1505Lys)
NM_138694.4(PKHD1):c.4540G>C (p.Asp1514His) rs147098776
NM_138694.4(PKHD1):c.4547C>T (p.Pro1516Leu)
NM_138694.4(PKHD1):c.4549A>G (p.Met1517Val) rs1562163930
NM_138694.4(PKHD1):c.4554A>G (p.Val1518=) rs1562163878
NM_138694.4(PKHD1):c.4581T>G (p.Asn1527Lys) rs1554198527
NM_138694.4(PKHD1):c.4606G>A (p.Val1536Ile) rs371846890
NM_138694.4(PKHD1):c.4613G>A (p.Cys1538Tyr) rs794727565
NM_138694.4(PKHD1):c.4792C>G (p.Leu1598Val) rs1562162277
NM_138694.4(PKHD1):c.4812G>A (p.Thr1604=) rs780533224
NM_138694.4(PKHD1):c.4852A>G (p.Ile1618Val)
NM_138694.4(PKHD1):c.4854C>T (p.Ile1618=)
NM_138694.4(PKHD1):c.4866C>A (p.Leu1622=)
NM_138694.4(PKHD1):c.4871G>A (p.Arg1624Gln) rs190396031
NM_138694.4(PKHD1):c.4876A>G (p.Ile1626Val) rs770183868
NM_138694.4(PKHD1):c.488G>T (p.Arg163Ile)
NM_138694.4(PKHD1):c.5086T>G (p.Ser1696Ala) rs1562160374
NM_138694.4(PKHD1):c.5123C>A (p.Ser1708Tyr)
NM_138694.4(PKHD1):c.5130G>T (p.Pro1710=)
NM_138694.4(PKHD1):c.5133C>T (p.Ala1711=)
NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg) rs141103838
NM_138694.4(PKHD1):c.5153G>T (p.Gly1718Val) rs1562159899
NM_138694.4(PKHD1):c.5193G>A (p.Val1731=) rs146531432
NM_138694.4(PKHD1):c.5199C>T (p.Thr1733=) rs148790132
NM_138694.4(PKHD1):c.5221G>A (p.Val1741Met) rs137852946
NM_138694.4(PKHD1):c.5235C>T (p.Phe1745=) rs187667255
NM_138694.4(PKHD1):c.5236+4A>G rs1264894779
NM_138694.4(PKHD1):c.5259G>T (p.Val1753=)
NM_138694.4(PKHD1):c.5266T>C (p.Phe1756Leu)
NM_138694.4(PKHD1):c.5275G>C (p.Gly1759Arg) rs398124488
NM_138694.4(PKHD1):c.528-17dup rs753686281
NM_138694.4(PKHD1):c.528-18A>T rs200804428
NM_138694.4(PKHD1):c.5283T>G (p.Ser1761=)
NM_138694.4(PKHD1):c.5324G>A (p.Arg1775Gln) rs370557603
NM_138694.4(PKHD1):c.5342C>T (p.Thr1781Ile) rs1554197025
NM_138694.4(PKHD1):c.5381T>C (p.Val1794Ala)
NM_138694.4(PKHD1):c.5397G>A (p.Leu1799=) rs1458152386
NM_138694.4(PKHD1):c.5410C>T (p.Arg1804Cys) rs201906247
NM_138694.4(PKHD1):c.5411G>A (p.Arg1804His)
NM_138694.4(PKHD1):c.5478G>A (p.Ala1826=) rs137925439
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu) rs201105958
NM_138694.4(PKHD1):c.5503C>T (p.Pro1835Ser) rs1562140504
NM_138694.4(PKHD1):c.5520C>T (p.Cys1840=)
NM_138694.4(PKHD1):c.5527A>G (p.Ser1843Gly) rs1159626384
NM_138694.4(PKHD1):c.5574T>G (p.Phe1858Leu) rs1562140096
NM_138694.4(PKHD1):c.5585C>T (p.Ser1862Leu) rs147933501
NM_138694.4(PKHD1):c.5586G>A (p.Ser1862=) rs1372900985
NM_138694.4(PKHD1):c.5587G>T (p.Gly1863Cys) rs776275341
NM_138694.4(PKHD1):c.5588G>A (p.Gly1863Asp) rs794727578
NM_138694.4(PKHD1):c.55C>T (p.Arg19Cys) rs767379405
NM_138694.4(PKHD1):c.5706C>T (p.Thr1902=)
NM_138694.4(PKHD1):c.5726G>A (p.Arg1909Gln)
NM_138694.4(PKHD1):c.5731C>T (p.Arg1911Cys) rs149553146
NM_138694.4(PKHD1):c.5751G>A (p.Gln1917=) rs398124489
NM_138694.4(PKHD1):c.5752-9G>A rs184441390
NM_138694.4(PKHD1):c.5768A>T (p.Gln1923Leu) rs150838488
NM_138694.4(PKHD1):c.5787C>T (p.Ser1929=) rs1561990875
NM_138694.4(PKHD1):c.5829C>T (p.Gly1943=) rs376709130
NM_138694.4(PKHD1):c.5908G>C (p.Gly1970Arg) rs794727592
NM_138694.4(PKHD1):c.5909G>A (p.Gly1970Glu) rs750312874
NM_138694.4(PKHD1):c.6001G>A (p.Glu2001Lys) rs200599637
NM_138694.4(PKHD1):c.6042C>T (p.Tyr2014=) rs373208457
NM_138694.4(PKHD1):c.607C>T (p.Pro203Ser)
NM_138694.4(PKHD1):c.6121G>A (p.Gly2041Ser) rs199589074
NM_138694.4(PKHD1):c.6130C>T (p.Pro2044Ser) rs777570978
NM_138694.4(PKHD1):c.6143T>C (p.Val2048Ala) rs1283289447
NM_138694.4(PKHD1):c.6216T>G (p.Pro2072=) rs148817026
NM_138694.4(PKHD1):c.624T>C (p.His208=) rs767511678
NM_138694.4(PKHD1):c.633G>A (p.Gly211=) rs144025892
NM_138694.4(PKHD1):c.6352G>A (p.Glu2118Lys)
NM_138694.4(PKHD1):c.642G>A (p.Gln214=) rs762584715
NM_138694.4(PKHD1):c.6479A>G (p.Asn2160Ser)
NM_138694.4(PKHD1):c.6499C>A (p.Gln2167Lys) rs368263958
NM_138694.4(PKHD1):c.652G>A (p.Glu218Lys) rs149522482
NM_138694.4(PKHD1):c.6557G>C (p.Arg2186Thr) rs375436864
NM_138694.4(PKHD1):c.6564C>T (p.Ile2188=)
NM_138694.4(PKHD1):c.6565G>A (p.Val2189Ile) rs142552070
NM_138694.4(PKHD1):c.658G>A (p.Asp220Asn) rs199897497
NM_138694.4(PKHD1):c.668-3C>T
NM_138694.4(PKHD1):c.6687T>C (p.Ser2229=) rs148497044
NM_138694.4(PKHD1):c.6713A>G (p.Asn2238Ser) rs1562588214
NM_138694.4(PKHD1):c.6741C>G (p.Cys2247Trp)
NM_138694.4(PKHD1):c.6774A>C (p.Val2258=) rs34796823
NM_138694.4(PKHD1):c.6779A>G (p.Tyr2260Cys)
NM_138694.4(PKHD1):c.6782A>G (p.Asn2261Ser) rs146102132
NM_138694.4(PKHD1):c.6795T>C (p.His2265=) rs186227053
NM_138694.4(PKHD1):c.6797C>T (p.Ala2266Val)
NM_138694.4(PKHD1):c.6808+5G>C rs398124490
NM_138694.4(PKHD1):c.6847A>G (p.Ile2283Val) rs1554299441
NM_138694.4(PKHD1):c.6850C>A (p.His2284Asn) rs1554299439
NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu) rs142526715
NM_138694.4(PKHD1):c.6992T>C (p.Ile2331Thr)
NM_138694.4(PKHD1):c.6996+5G>A rs1232218253
NM_138694.4(PKHD1):c.7067C>T (p.Pro2356Leu) rs141360909
NM_138694.4(PKHD1):c.707A>T (p.Lys236Met)
NM_138694.4(PKHD1):c.708-5C>T rs371844893
NM_138694.4(PKHD1):c.7090A>G (p.Ile2364Val) rs748865599
NM_138694.4(PKHD1):c.7106C>G (p.Thr2369Ser) rs1216619838
NM_138694.4(PKHD1):c.7110G>A (p.Arg2370=) rs1562532532
NM_138694.4(PKHD1):c.7170T>C (p.Thr2390=)
NM_138694.4(PKHD1):c.7221T>C (p.Phe2407=) rs199559837
NM_138694.4(PKHD1):c.723G>A (p.Lys241=) rs886044700
NM_138694.4(PKHD1):c.7264T>G (p.Cys2422Gly) rs201881567
NM_138694.4(PKHD1):c.727G>T (p.Ala243Ser)
NM_138694.4(PKHD1):c.7280T>C (p.Ile2427Thr) rs398124492
NM_138694.4(PKHD1):c.7282G>C (p.Asp2428His) rs766312557
NM_138694.4(PKHD1):c.7284C>T (p.Asp2428=)
NM_138694.4(PKHD1):c.7307C>T (p.Thr2436Ile) rs147851214
NM_138694.4(PKHD1):c.7308T>G (p.Thr2436=)
NM_138694.4(PKHD1):c.7350+5G>A rs1554287798
NM_138694.4(PKHD1):c.7377T>G (p.Ile2459Met) rs201173272
NM_138694.4(PKHD1):c.7430T>G (p.Phe2477Cys) rs1366295189
NM_138694.4(PKHD1):c.7533A>G (p.Ser2511=) rs200679577
NM_138694.4(PKHD1):c.7567A>G (p.Ile2523Val)
NM_138694.4(PKHD1):c.7626T>C (p.Ser2542=)
NM_138694.4(PKHD1):c.7641A>G (p.Ser2547=) rs771563591
NM_138694.4(PKHD1):c.764A>G (p.Tyr255Cys) rs886042259
NM_138694.4(PKHD1):c.7665C>T (p.Ser2555=)
NM_138694.4(PKHD1):c.7675G>C (p.Val2559Leu) rs150046042
NM_138694.4(PKHD1):c.7689T>G (p.Ser2563Arg) rs1490760433
NM_138694.4(PKHD1):c.7694G>C (p.Cys2565Ser) rs1336917781
NM_138694.4(PKHD1):c.7715A>T (p.His2572Leu)
NM_138694.4(PKHD1):c.7717C>T (p.Arg2573Cys) rs752994816
NM_138694.4(PKHD1):c.7734-6C>A rs367564272
NM_138694.4(PKHD1):c.7736C>T (p.Ala2579Val) rs78361537
NM_138694.4(PKHD1):c.7758T>C (p.Tyr2586=)
NM_138694.4(PKHD1):c.776C>T (p.Ser259Leu) rs1160054242
NM_138694.4(PKHD1):c.778+10C>G rs1365502451
NM_138694.4(PKHD1):c.782T>C (p.Ile261Thr) rs398124493
NM_138694.4(PKHD1):c.7864A>G (p.Thr2622Ala)
NM_138694.4(PKHD1):c.7887C>T (p.Asn2629=) rs146083613
NM_138694.4(PKHD1):c.7906C>T (p.Leu2636=)
NM_138694.4(PKHD1):c.7912-5T>G rs371510537
NM_138694.4(PKHD1):c.7956G>T (p.Leu2652=)
NM_138694.4(PKHD1):c.7957C>T (p.Leu2653=) rs556212333
NM_138694.4(PKHD1):c.8022G>T (p.Leu2674=) rs755688912
NM_138694.4(PKHD1):c.802A>G (p.Thr268Ala) rs1338872732
NM_138694.4(PKHD1):c.8084A>G (p.Gln2695Arg) rs1185197350
NM_138694.4(PKHD1):c.8086C>G (p.Leu2696Val) rs1562452827
NM_138694.4(PKHD1):c.8090G>A (p.Arg2697Lys) rs794727747
NM_138694.4(PKHD1):c.8107+8T>G rs368339881
NM_138694.4(PKHD1):c.8120G>A (p.Gly2707Asp) rs201254195
NM_138694.4(PKHD1):c.812T>C (p.Leu271Pro) rs750887164
NM_138694.4(PKHD1):c.8158C>T (p.Pro2720Ser)
NM_138694.4(PKHD1):c.8174-18dup rs566540835
NM_138694.4(PKHD1):c.8181C>G (p.Thr2727=) rs759658629
NM_138694.4(PKHD1):c.8187C>A (p.Ala2729=) rs149310653
NM_138694.4(PKHD1):c.8239G>C (p.Glu2747Gln) rs794727756
NM_138694.4(PKHD1):c.8246_8247inv (p.Trp2749Ser) rs398124494
NM_138694.4(PKHD1):c.8252G>C (p.Gly2751Ala) rs1441352481
NM_138694.4(PKHD1):c.826A>T (p.Asn276Tyr)
NM_138694.4(PKHD1):c.8302+5G>A rs1554263049
NM_138694.4(PKHD1):c.831C>T (p.Ile277=)
NM_138694.4(PKHD1):c.8335T>G (p.Phe2779Val) rs144106341
NM_138694.4(PKHD1):c.8364C>T (p.Thr2788=)
NM_138694.4(PKHD1):c.8410A>G (p.Met2804Val)
NM_138694.4(PKHD1):c.8425G>A (p.Gly2809Arg) rs398124497
NM_138694.4(PKHD1):c.8440+10G>C rs376658460
NM_138694.4(PKHD1):c.8455C>T (p.Pro2819Ser) rs886043763
NM_138694.4(PKHD1):c.8466G>A (p.Lys2822=)
NM_138694.4(PKHD1):c.8471A>G (p.Gln2824Arg) rs1246250277
NM_138694.4(PKHD1):c.847T>C (p.Phe283Leu) rs375145340
NM_138694.4(PKHD1):c.8554+3A>G rs370312392
NM_138694.4(PKHD1):c.8575C>A (p.Leu2859Ile) rs727504086
NM_138694.4(PKHD1):c.8599T>C (p.Ser2867Pro)
NM_138694.4(PKHD1):c.868G>A (p.Val290Ile)
NM_138694.4(PKHD1):c.873C>T (p.Thr291=)
NM_138694.4(PKHD1):c.8755C>T (p.His2919Tyr) rs886042601
NM_138694.4(PKHD1):c.8776C>T (p.Arg2926Trp)
NM_138694.4(PKHD1):c.878C>T (p.Ala293Val) rs398124499
NM_138694.4(PKHD1):c.8798-10A>T rs1562235798
NM_138694.4(PKHD1):c.8798-7G>A rs1554220805
NM_138694.4(PKHD1):c.880+5C>T
NM_138694.4(PKHD1):c.8813C>T (p.Thr2938Met)
NM_138694.4(PKHD1):c.8814G>A (p.Thr2938=) rs755169390
NM_138694.4(PKHD1):c.8886C>T (p.Asp2962=)
NM_138694.4(PKHD1):c.8887G>A (p.Val2963Ile) rs749794881
NM_138694.4(PKHD1):c.8970T>C (p.Asn2990=) rs1293255485
NM_138694.4(PKHD1):c.8997A>G (p.Pro2999=) rs777095602
NM_138694.4(PKHD1):c.9106G>T (p.Val3036Leu) rs141912421
NM_138694.4(PKHD1):c.9107T>G (p.Val3036Gly)
NM_138694.4(PKHD1):c.910C>G (p.Pro304Ala) rs727504095
NM_138694.4(PKHD1):c.9154G>T (p.Asp3052Tyr)
NM_138694.4(PKHD1):c.9186T>C (p.Asn3062=) rs755873874
NM_138694.4(PKHD1):c.9241A>G (p.Ile3081Val) rs142146981
NM_138694.4(PKHD1):c.9282C>T (p.Asn3094=)
NM_138694.4(PKHD1):c.9299A>G (p.Glu3100Gly) rs749998868
NM_138694.4(PKHD1):c.9345A>G (p.Glu3115=)
NM_138694.4(PKHD1):c.934C>T (p.Arg312Trp) rs372340268
NM_138694.4(PKHD1):c.935G>A (p.Arg312Gln) rs140781915
NM_138694.4(PKHD1):c.9363T>C (p.Asn3121=) rs183674012
NM_138694.4(PKHD1):c.9369G>T (p.Ala3123=)
NM_138694.4(PKHD1):c.9391C>T (p.His3131Tyr) rs886043567
NM_138694.4(PKHD1):c.9402G>A (p.Lys3134=) rs143737660
NM_138694.4(PKHD1):c.9493G>A (p.Val3165Met) rs199621305
NM_138694.4(PKHD1):c.9553G>A (p.Val3185Ile) rs145651593
NM_138694.4(PKHD1):c.9571A>C (p.Asn3191His)
NM_138694.4(PKHD1):c.9662C>T (p.Pro3221Leu)
NM_138694.4(PKHD1):c.9663G>A (p.Pro3221=)
NM_138694.4(PKHD1):c.9696T>C (p.Ala3232=) rs368588369
NM_138694.4(PKHD1):c.9719G>T (p.Arg3240Leu) rs146649803
NM_138694.4(PKHD1):c.9725G>A (p.Gly3242Asp) rs886044327
NM_138694.4(PKHD1):c.977-7C>G
NM_138694.4(PKHD1):c.983G>A (p.Arg328Gln)
NM_138694.4(PKHD1):c.9868G>A (p.Asp3290Asn) rs370659581
NM_138694.4(PKHD1):c.9925A>G (p.Ile3309Val) rs45627337
NM_138694.4(PKHD1):c.9938G>A (p.Arg3313Lys)

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