ClinVar Miner

List of variants in gene PKHD1 reported as uncertain significance for Polycystic kidney disease 4

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ClinVar version:
Total variants: 677
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HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile) rs148932323 0.00287
NM_138694.4(PKHD1):c.652G>A (p.Glu218Lys) rs149522482 0.00198
NM_138694.4(PKHD1):c.12027C>G (p.Tyr4009Ter) rs143616240 0.00100
NM_138694.4(PKHD1):c.10926G>A (p.Met3642Ile) rs78518523 0.00076
NM_138694.4(PKHD1):c.7912-5T>G rs371510537 0.00075
NM_138694.4(PKHD1):c.1676G>A (p.Arg559Gln) rs142896856 0.00061
NM_138694.4(PKHD1):c.5768A>T (p.Gln1923Leu) rs150838488 0.00057
NM_138694.4(PKHD1):c.334G>A (p.Gly112Arg) rs149841071 0.00039
NM_138694.4(PKHD1):c.9925A>G (p.Ile3309Val) rs45627337 0.00036
NM_138694.4(PKHD1):c.3373A>C (p.Thr1125Pro) rs144365187 0.00033
NM_138694.4(PKHD1):c.1643A>G (p.Lys548Arg) rs145163993 0.00030
NM_138694.4(PKHD1):c.10909C>T (p.Arg3637Cys) rs141349745 0.00025
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg) rs149798764 0.00024
NM_138694.4(PKHD1):c.12142C>T (p.Gln4048Ter) rs201812542 0.00022
NM_138694.4(PKHD1):c.5585C>T (p.Ser1862Leu) rs147933501 0.00022
NM_138694.4(PKHD1):c.8141G>A (p.Arg2714Gln) rs371665285 0.00021
NM_138694.4(PKHD1):c.3851C>T (p.Pro1284Leu) rs139838478 0.00020
NM_138694.4(PKHD1):c.4540G>C (p.Asp1514His) rs147098776 0.00020
NM_138694.4(PKHD1):c.6121G>A (p.Gly2041Ser) rs199589074 0.00020
NM_138694.4(PKHD1):c.1717G>T (p.Gly573Trp) rs143867809 0.00019
NM_138694.4(PKHD1):c.3241C>T (p.Arg1081Cys) rs200986136 0.00018
NM_138694.4(PKHD1):c.1765C>T (p.Arg589Cys) rs137972270 0.00017
NM_138694.4(PKHD1):c.4169G>A (p.Arg1390Gln) rs139063552 0.00017
NM_138694.4(PKHD1):c.10684C>A (p.His3562Asn) rs140419956 0.00016
NM_138694.4(PKHD1):c.10973T>C (p.Ile3658Thr) rs142536551 0.00016
NM_138694.4(PKHD1):c.2006G>A (p.Arg669His) rs200497761 0.00016
NM_138694.4(PKHD1):c.4447G>A (p.Glu1483Lys) rs146745096 0.00016
NM_138694.4(PKHD1):c.9662C>T (p.Pro3221Leu) rs145141656 0.00016
NM_138694.4(PKHD1):c.10888C>T (p.His3630Tyr) rs145219220 0.00015
NM_138694.4(PKHD1):c.12110T>C (p.Leu4037Pro) rs199900211 0.00015
NM_138694.4(PKHD1):c.658G>A (p.Asp220Asn) rs199897497 0.00015
NM_138694.4(PKHD1):c.5692A>G (p.Asn1898Asp) rs756825030 0.00014
NM_138694.4(PKHD1):c.10744G>A (p.Glu3582Lys) rs148300854 0.00013
NM_138694.4(PKHD1):c.1201C>A (p.His401Asn) rs192769565 0.00013
NM_138694.4(PKHD1):c.9241A>G (p.Ile3081Val) rs142146981 0.00013
NM_138694.4(PKHD1):c.3904G>A (p.Val1302Ile) rs141972092 0.00012
NM_138694.4(PKHD1):c.11175-10T>G rs373424543 0.00011
NM_138694.4(PKHD1):c.11870G>A (p.Arg3957His) rs372357820 0.00011
NM_138694.4(PKHD1):c.2093G>A (p.Gly698Asp) rs199858063 0.00011
NM_138694.4(PKHD1):c.3839G>A (p.Arg1280His) rs374233100 0.00011
NM_138694.4(PKHD1):c.4304G>C (p.Ser1435Thr) rs138242579 0.00011
NM_138694.4(PKHD1):c.5266T>C (p.Phe1756Leu) rs368467585 0.00011
NM_138694.4(PKHD1):c.7091T>A (p.Ile2364Asn) rs76260483 0.00011
NM_138694.4(PKHD1):c.8120G>A (p.Gly2707Asp) rs201254195 0.00011
NM_138694.4(PKHD1):c.1018G>A (p.Gly340Arg) rs368351830 0.00010
NM_138694.4(PKHD1):c.6001G>A (p.Glu2001Lys) rs200599637 0.00010
NM_138694.4(PKHD1):c.934C>T (p.Arg312Trp) rs372340268 0.00010
NM_138694.4(PKHD1):c.10354A>G (p.Thr3452Ala) rs562503637 0.00009
NM_138694.4(PKHD1):c.10384A>G (p.Ile3462Val) rs139742511 0.00009
NM_138694.4(PKHD1):c.11342C>T (p.Ser3781Leu) rs780849635 0.00009
NM_138694.4(PKHD1):c.1565C>T (p.Ser522Phe) rs746561147 0.00009
NM_138694.4(PKHD1):c.1835A>G (p.His612Arg) rs369932370 0.00009
NM_138694.4(PKHD1):c.5324G>A (p.Arg1775Gln) rs370557603 0.00009
NM_138694.4(PKHD1):c.7238G>A (p.Arg2413His) rs772219802 0.00009
NM_138694.4(PKHD1):c.7285G>A (p.Val2429Ile) rs148284341 0.00009
NM_138694.4(PKHD1):c.11476C>A (p.His3826Asn) rs760056303 0.00008
NM_138694.4(PKHD1):c.1487G>A (p.Arg496Gln) rs181391485 0.00008
NM_138694.4(PKHD1):c.4009G>A (p.Asp1337Asn) rs373255125 0.00008
NM_138694.4(PKHD1):c.708-5C>T rs371844893 0.00008
NM_138694.4(PKHD1):c.8519G>A (p.Arg2840His) rs373643848 0.00008
NM_138694.4(PKHD1):c.1576A>G (p.Ile526Val) rs142608481 0.00007
NM_138694.4(PKHD1):c.3526G>A (p.Val1176Ile) rs565045703 0.00007
NM_138694.4(PKHD1):c.10252G>A (p.Ala3418Thr) rs776589273 0.00006
NM_138694.4(PKHD1):c.10775A>G (p.Gln3592Arg) rs761871204 0.00006
NM_138694.4(PKHD1):c.10940A>C (p.His3647Pro) rs139442289 0.00006
NM_138694.4(PKHD1):c.11123T>C (p.Met3708Thr) rs373896034 0.00006
NM_138694.4(PKHD1):c.12106C>T (p.Arg4036Trp) rs201210830 0.00006
NM_138694.4(PKHD1):c.4547C>T (p.Pro1516Leu) rs200278368 0.00006
NM_138694.4(PKHD1):c.5411G>A (p.Arg1804His) rs151160618 0.00006
NM_138694.4(PKHD1):c.6238A>G (p.Ser2080Gly) rs528966196 0.00006
NM_138694.4(PKHD1):c.6352G>A (p.Glu2118Lys) rs751529187 0.00006
NM_138694.4(PKHD1):c.6779A>G (p.Tyr2260Cys) rs374132086 0.00006
NM_138694.4(PKHD1):c.7163G>A (p.Gly2388Asp) rs371830478 0.00006
NM_138694.4(PKHD1):c.7567A>G (p.Ile2523Val) rs146962673 0.00006
NM_138694.4(PKHD1):c.8319G>A (p.Val2773=) rs374869252 0.00006
NM_138694.4(PKHD1):c.9629C>G (p.Ser3210Cys) rs141081295 0.00006
NM_138694.4(PKHD1):c.9665A>G (p.His3222Arg) rs777989032 0.00006
NM_138694.4(PKHD1):c.1772C>G (p.Pro591Arg) rs201824369 0.00005
NM_138694.4(PKHD1):c.217C>T (p.Arg73Trp) rs567357782 0.00005
NM_138694.4(PKHD1):c.3368G>A (p.Gly1123Asp) rs148356158 0.00005
NM_138694.4(PKHD1):c.4265G>A (p.Arg1422Gln) rs557773345 0.00005
NM_138694.4(PKHD1):c.49G>T (p.Ala17Ser) rs149293970 0.00005
NM_138694.4(PKHD1):c.5687C>T (p.Thr1896Met) rs140996978 0.00005
NM_138694.4(PKHD1):c.6565G>A (p.Val2189Ile) rs142552070 0.00005
NM_138694.4(PKHD1):c.8813C>T (p.Thr2938Met) rs776068047 0.00005
NM_138694.4(PKHD1):c.9571A>C (p.Asn3191His) rs372102850 0.00005
NM_138694.4(PKHD1):c.10445G>A (p.Arg3482His) rs143915416 0.00004
NM_138694.4(PKHD1):c.10452T>G (p.Phe3484Leu) rs545701882 0.00004
NM_138694.4(PKHD1):c.10666C>T (p.Arg3556Cys) rs201534300 0.00004
NM_138694.4(PKHD1):c.12107G>A (p.Arg4036Gln) rs201242338 0.00004
NM_138694.4(PKHD1):c.1249A>G (p.Ile417Val) rs781286941 0.00004
NM_138694.4(PKHD1):c.1420C>A (p.His474Asn) rs760766190 0.00004
NM_138694.4(PKHD1):c.143G>A (p.Gly48Asp) rs557361225 0.00004
NM_138694.4(PKHD1):c.1691G>A (p.Arg564Gln) rs757182803 0.00004
NM_138694.4(PKHD1):c.1829A>G (p.Tyr610Cys) rs199846197 0.00004
NM_138694.4(PKHD1):c.218G>A (p.Arg73Gln) rs577541526 0.00004
NM_138694.4(PKHD1):c.2330C>T (p.Thr777Met) rs564240823 0.00004
NM_138694.4(PKHD1):c.2414C>T (p.Pro805Leu) rs199531851 0.00004
NM_138694.4(PKHD1):c.2639G>A (p.Arg880His) rs886042298 0.00004
NM_138694.4(PKHD1):c.2961G>T (p.Leu987Phe) rs398124482 0.00004
NM_138694.4(PKHD1):c.3242G>A (p.Arg1081His) rs201123815 0.00004
NM_138694.4(PKHD1):c.3433G>A (p.Val1145Ile) rs147035447 0.00004
NM_138694.4(PKHD1):c.400G>A (p.Ala134Thr) rs536456650 0.00004
NM_138694.4(PKHD1):c.4105C>T (p.Arg1369Cys) rs368974211 0.00004
NM_138694.4(PKHD1):c.434C>G (p.Pro145Arg) rs146649894 0.00004
NM_138694.4(PKHD1):c.4558G>A (p.Val1520Met) rs201858937 0.00004
NM_138694.4(PKHD1):c.5750A>G (p.Gln1917Arg) rs1412045164 0.00004
NM_138694.4(PKHD1):c.6557G>C (p.Arg2186Thr) rs375436864 0.00004
NM_138694.4(PKHD1):c.7469A>G (p.Asp2490Gly) rs746000400 0.00004
NM_138694.4(PKHD1):c.9076G>A (p.Gly3026Arg) rs146550270 0.00004
NM_138694.4(PKHD1):c.10250G>A (p.Ser3417Asn) rs778583323 0.00003
NM_138694.4(PKHD1):c.11756C>T (p.Pro3919Leu) rs775014599 0.00003
NM_138694.4(PKHD1):c.12188A>G (p.His4063Arg) rs755769277 0.00003
NM_138694.4(PKHD1):c.12200C>T (p.Pro4067Leu) rs758871283 0.00003
NM_138694.4(PKHD1):c.122T>G (p.Ile41Ser) rs886043527 0.00003
NM_138694.4(PKHD1):c.1256T>C (p.Val419Ala) rs144526315 0.00003
NM_138694.4(PKHD1):c.1288C>A (p.Gln430Lys) rs727504094 0.00003
NM_138694.4(PKHD1):c.1462C>T (p.Arg488Trp) rs139770251 0.00003
NM_138694.4(PKHD1):c.1847C>G (p.Ala616Gly) rs145855006 0.00003
NM_138694.4(PKHD1):c.1913T>C (p.Met638Thr) rs181546197 0.00003
NM_138694.4(PKHD1):c.2347C>T (p.Arg783Trp) rs749170990 0.00003
NM_138694.4(PKHD1):c.2539G>A (p.Val847Met) rs778864835 0.00003
NM_138694.4(PKHD1):c.4418A>G (p.Gln1473Arg) rs780740862 0.00003
NM_138694.4(PKHD1):c.5414A>G (p.Glu1805Gly) rs377674026 0.00003
NM_138694.4(PKHD1):c.6583G>A (p.Glu2195Lys) rs151108325 0.00003
NM_138694.4(PKHD1):c.7361G>A (p.Cys2454Tyr) rs747072396 0.00003
NM_138694.4(PKHD1):c.7582G>A (p.Asp2528Asn) rs142487082 0.00003
NM_138694.4(PKHD1):c.7726A>G (p.Ile2576Val) rs565528098 0.00003
NM_138694.4(PKHD1):c.874A>G (p.Ile292Val) rs367590965 0.00003
NM_138694.4(PKHD1):c.9524A>G (p.Asn3175Ser) rs1343246818 0.00003
NM_138694.4(PKHD1):c.10514G>A (p.Ser3505Asn) rs200244173 0.00002
NM_138694.4(PKHD1):c.11539G>T (p.Ala3847Ser) rs769135174 0.00002
NM_138694.4(PKHD1):c.11918C>T (p.Thr3973Ile) rs773044015 0.00002
NM_138694.4(PKHD1):c.1218G>T (p.Glu406Asp) rs748017071 0.00002
NM_138694.4(PKHD1):c.2244G>A (p.Ala748=) rs886043022 0.00002
NM_138694.4(PKHD1):c.2576T>G (p.Leu859Trp) rs769143280 0.00002
NM_138694.4(PKHD1):c.2726G>A (p.Arg909Gln) rs201753421 0.00002
NM_138694.4(PKHD1):c.2989A>G (p.Met997Val) rs979700489 0.00002
NM_138694.4(PKHD1):c.3419A>T (p.Asp1140Val) rs774570785 0.00002
NM_138694.4(PKHD1):c.3604G>A (p.Glu1202Lys) rs554956088 0.00002
NM_138694.4(PKHD1):c.3817G>C (p.Ala1273Pro) rs199643308 0.00002
NM_138694.4(PKHD1):c.3890C>T (p.Ala1297Val) rs747436583 0.00002
NM_138694.4(PKHD1):c.5360G>T (p.Cys1787Phe) rs367970695 0.00002
NM_138694.4(PKHD1):c.55C>T (p.Arg19Cys) rs767379405 0.00002
NM_138694.4(PKHD1):c.6266C>T (p.Pro2089Leu) rs376477480 0.00002
NM_138694.4(PKHD1):c.668-3C>T rs775002568 0.00002
NM_138694.4(PKHD1):c.6797C>T (p.Ala2266Val) rs755286726 0.00002
NM_138694.4(PKHD1):c.6996+5G>A rs1232218253 0.00002
NM_138694.4(PKHD1):c.7912T>A (p.Tyr2638Asn) rs749431123 0.00002
NM_138694.4(PKHD1):c.8156T>C (p.Met2719Thr) rs368696503 0.00002
NM_138694.4(PKHD1):c.8356A>G (p.Met2786Val) rs762313489 0.00002
NM_138694.4(PKHD1):c.8776C>T (p.Arg2926Trp) rs757650951 0.00002
NM_138694.4(PKHD1):c.8887G>A (p.Val2963Ile) rs749794881 0.00002
NM_138694.4(PKHD1):c.9107T>G (p.Val3036Gly) rs893497345 0.00002
NM_138694.4(PKHD1):c.9282C>T (p.Asn3094=) rs113402912 0.00002
NM_138694.4(PKHD1):c.9938G>A (p.Arg3313Lys) rs763499782 0.00002
NM_138694.4(PKHD1):c.10129G>A (p.Glu3377Lys) rs754382673 0.00001
NM_138694.4(PKHD1):c.10556T>C (p.Leu3519Pro) rs769773637 0.00001
NM_138694.4(PKHD1):c.10583A>G (p.Asn3528Ser) rs886061612 0.00001
NM_138694.4(PKHD1):c.11000G>C (p.Gly3667Ala) rs201692162 0.00001
NM_138694.4(PKHD1):c.11101G>A (p.Val3701Ile) rs979287276 0.00001
NM_138694.4(PKHD1):c.11210A>G (p.Tyr3737Cys) rs1206336265 0.00001
NM_138694.4(PKHD1):c.11279T>G (p.Val3760Gly) rs886061610 0.00001
NM_138694.4(PKHD1):c.11478C>G (p.His3826Gln) rs775097870 0.00001
NM_138694.4(PKHD1):c.11786-3C>A rs746467881 0.00001
NM_138694.4(PKHD1):c.1187G>A (p.Ser396Asn) rs772507975 0.00001
NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter) rs144193508 0.00001
NM_138694.4(PKHD1):c.12076C>T (p.Gln4026Ter) rs780097121 0.00001
NM_138694.4(PKHD1):c.12088C>A (p.Gln4030Lys) rs531466080 0.00001
NM_138694.4(PKHD1):c.12163G>A (p.Gly4055Arg) rs778545068 0.00001
NM_138694.4(PKHD1):c.12225A>T (p.Ter4075Cys) rs1347911533 0.00001
NM_138694.4(PKHD1):c.1425C>T (p.Asn475=) rs200745148 0.00001
NM_138694.4(PKHD1):c.193G>A (p.Val65Met) rs749853418 0.00001
NM_138694.4(PKHD1):c.2090C>T (p.Thr697Met) rs377415956 0.00001
NM_138694.4(PKHD1):c.2167C>T (p.Arg723Cys) rs794727366 0.00001
NM_138694.4(PKHD1):c.2180A>G (p.Asn727Ser) rs727504090 0.00001
NM_138694.4(PKHD1):c.2275G>A (p.Ala759Thr) rs550730673 0.00001
NM_138694.4(PKHD1):c.2280-4A>T rs549804372 0.00001
NM_138694.4(PKHD1):c.2377C>T (p.Arg793Cys) rs779653146 0.00001
NM_138694.4(PKHD1):c.2518C>G (p.Leu840Val) rs546401927 0.00001
NM_138694.4(PKHD1):c.2593-10A>G rs1050450962 0.00001
NM_138694.4(PKHD1):c.2638C>T (p.Arg880Cys) rs752646435 0.00001
NM_138694.4(PKHD1):c.2906C>T (p.Thr969Met) rs530600526 0.00001
NM_138694.4(PKHD1):c.2980C>T (p.Arg994Trp) rs757854282 0.00001
NM_138694.4(PKHD1):c.3073G>C (p.Glu1025Gln) rs899785229 0.00001
NM_138694.4(PKHD1):c.3119G>A (p.Arg1040Gln) rs751832041 0.00001
NM_138694.4(PKHD1):c.3148A>G (p.Ile1050Val) rs727504088 0.00001
NM_138694.4(PKHD1):c.3259G>C (p.Val1087Leu) rs372422063 0.00001
NM_138694.4(PKHD1):c.3329T>C (p.Ile1110Thr) rs772369540 0.00001
NM_138694.4(PKHD1):c.3383T>C (p.Ile1128Thr) rs78624439 0.00001
NM_138694.4(PKHD1):c.3536A>G (p.Asn1179Ser) rs747233443 0.00001
NM_138694.4(PKHD1):c.3547A>G (p.Ile1183Val) rs746874144 0.00001
NM_138694.4(PKHD1):c.371G>A (p.Arg124Gln) rs764940559 0.00001
NM_138694.4(PKHD1):c.3779C>T (p.Ala1260Val) rs112182862 0.00001
NM_138694.4(PKHD1):c.4204T>C (p.Cys1402Arg) rs759930967 0.00001
NM_138694.4(PKHD1):c.4277C>T (p.Ser1426Leu) rs771702541 0.00001
NM_138694.4(PKHD1):c.428A>G (p.Tyr143Cys) rs141093030 0.00001
NM_138694.4(PKHD1):c.4403T>C (p.Leu1468Pro) rs140331370 0.00001
NM_138694.4(PKHD1):c.56G>A (p.Arg19His) rs1375765328 0.00001
NM_138694.4(PKHD1):c.6130C>T (p.Pro2044Ser) rs777570978 0.00001
NM_138694.4(PKHD1):c.6143T>C (p.Val2048Ala) rs1283289447 0.00001
NM_138694.4(PKHD1):c.6187G>A (p.Ala2063Thr) rs772835579 0.00001
NM_138694.4(PKHD1):c.6475G>A (p.Ala2159Thr) rs750822014 0.00001
NM_138694.4(PKHD1):c.6499C>A (p.Gln2167Lys) rs368263958 0.00001
NM_138694.4(PKHD1):c.657C>T (p.Gly219=) rs189345248 0.00001
NM_138694.4(PKHD1):c.6634G>A (p.Ala2212Thr) rs1376315113 0.00001
NM_138694.4(PKHD1):c.6646C>T (p.His2216Tyr) rs1459248210 0.00001
NM_138694.4(PKHD1):c.7090A>G (p.Ile2364Val) rs748865599 0.00001
NM_138694.4(PKHD1):c.7308T>G (p.Thr2436=) rs771622189 0.00001
NM_138694.4(PKHD1):c.7377T>G (p.Ile2459Met) rs201173272 0.00001
NM_138694.4(PKHD1):c.739A>G (p.Ser247Gly) rs747117144 0.00001
NM_138694.4(PKHD1):c.7414A>G (p.Thr2472Ala) rs137972951 0.00001
NM_138694.4(PKHD1):c.7438A>T (p.Ile2480Phe) rs202008567 0.00001
NM_138694.4(PKHD1):c.7619T>C (p.Leu2540Pro) rs761681284 0.00001
NM_138694.4(PKHD1):c.7658A>G (p.Asn2553Ser) rs576001667 0.00001
NM_138694.4(PKHD1):c.7940C>T (p.Pro2647Leu) rs1448998543 0.00001
NM_138694.4(PKHD1):c.7976C>T (p.Pro2659Leu) rs776654447 0.00001
NM_138694.4(PKHD1):c.8012G>A (p.Arg2671Gln) rs778592523 0.00001
NM_138694.4(PKHD1):c.8080A>G (p.Ser2694Gly) rs775472136 0.00001
NM_138694.4(PKHD1):c.8084A>G (p.Gln2695Arg) rs1185197350 0.00001
NM_138694.4(PKHD1):c.8140C>T (p.Arg2714Trp) rs754533251 0.00001
NM_138694.4(PKHD1):c.8382C>G (p.Asp2794Glu) rs746096431 0.00001
NM_138694.4(PKHD1):c.8480T>C (p.Leu2827Pro) rs776157924 0.00001
NM_138694.4(PKHD1):c.8491A>G (p.Arg2831Gly) rs767914998 0.00001
NM_138694.4(PKHD1):c.868G>A (p.Val290Ile) rs773123823 0.00001
NM_138694.4(PKHD1):c.875T>C (p.Ile292Thr) rs193185189 0.00001
NM_138694.4(PKHD1):c.8830A>G (p.Ile2944Val) rs773010322 0.00001
NM_138694.4(PKHD1):c.8848G>A (p.Val2950Ile) rs768138709 0.00001
NM_138694.4(PKHD1):c.9106G>T (p.Val3036Leu) rs141912421 0.00001
NM_138694.4(PKHD1):c.9270C>A (p.Asn3090Lys) rs769571577 0.00001
NM_138694.4(PKHD1):c.977G>T (p.Gly326Val) rs778329699 0.00001
NM_138694.4(PKHD1):c.10067A>T (p.Asp3356Val)
NM_138694.4(PKHD1):c.10073A>G (p.Asp3358Gly)
NM_138694.4(PKHD1):c.10075G>C (p.Gly3359Arg)
NM_138694.4(PKHD1):c.10099C>T (p.Pro3367Ser)
NM_138694.4(PKHD1):c.100G>A (p.Gly34Arg) rs2128244638
NM_138694.4(PKHD1):c.10105T>C (p.Ser3369Pro) rs2150962340
NM_138694.4(PKHD1):c.10127C>T (p.Ala3376Val)
NM_138694.4(PKHD1):c.1013T>C (p.Val338Ala)
NM_138694.4(PKHD1):c.10150A>C (p.Asn3384His) rs752841263
NM_138694.4(PKHD1):c.10153G>A (p.Ala3385Thr) rs200762675
NM_138694.4(PKHD1):c.10157-3T>C
NM_138694.4(PKHD1):c.10160C>T (p.Thr3387Ile) rs2150418782
NM_138694.4(PKHD1):c.10180T>G (p.Cys3394Gly)
NM_138694.4(PKHD1):c.10207T>C (p.Phe3403Leu)
NM_138694.4(PKHD1):c.10291G>T (p.Val3431Leu)
NM_138694.4(PKHD1):c.10319T>A (p.Val3440Asp) rs756792624
NM_138694.4(PKHD1):c.10357T>G (p.Ser3453Ala)
NM_138694.4(PKHD1):c.10360G>A (p.Gly3454Arg)
NM_138694.4(PKHD1):c.10376T>C (p.Phe3459Ser)
NM_138694.4(PKHD1):c.10408A>G (p.Lys3470Glu)
NM_138694.4(PKHD1):c.10436A>G (p.Gln3479Arg)
NM_138694.4(PKHD1):c.10462A>T (p.Asn3488Tyr)
NM_138694.4(PKHD1):c.10463A>G (p.Asn3488Ser) rs1581894231
NM_138694.4(PKHD1):c.10481T>C (p.Leu3494Pro) rs1554183514
NM_138694.4(PKHD1):c.10492G>C (p.Val3498Leu)
NM_138694.4(PKHD1):c.1056G>C (p.Trp352Cys)
NM_138694.4(PKHD1):c.10640T>C (p.Leu3547Pro) rs2150414704
NM_138694.4(PKHD1):c.10724G>A (p.Gly3575Asp)
NM_138694.4(PKHD1):c.10724G>C (p.Gly3575Ala)
NM_138694.4(PKHD1):c.10787G>A (p.Arg3596Lys)
NM_138694.4(PKHD1):c.10788G>T (p.Arg3596Ser)
NM_138694.4(PKHD1):c.10817A>T (p.Glu3606Val)
NM_138694.4(PKHD1):c.1081C>T (p.Pro361Ser)
NM_138694.4(PKHD1):c.10820C>A (p.Thr3607Asn)
NM_138694.4(PKHD1):c.10844G>A (p.Arg3615Lys)
NM_138694.4(PKHD1):c.10861A>C (p.Asn3621His)
NM_138694.4(PKHD1):c.10883C>G (p.Thr3628Ser)
NM_138694.4(PKHD1):c.10932G>T (p.Met3644Ile)
NM_138694.4(PKHD1):c.10940A>G (p.His3647Arg)
NM_138694.4(PKHD1):c.10957A>G (p.Met3653Val)
NM_138694.4(PKHD1):c.10997T>C (p.Ile3666Thr)
NM_138694.4(PKHD1):c.109T>C (p.Trp37Arg)
NM_138694.4(PKHD1):c.11006C>T (p.Ser3669Leu)
NM_138694.4(PKHD1):c.1100A>G (p.Gln367Arg)
NM_138694.4(PKHD1):c.11037A>T (p.Ser3679=) rs1204544455
NM_138694.4(PKHD1):c.11074C>G (p.Arg3692Gly)
NM_138694.4(PKHD1):c.11075G>A (p.Arg3692Gln)
NM_138694.4(PKHD1):c.11165T>C (p.Ile3722Thr)
NM_138694.4(PKHD1):c.11168G>A (p.Gly3723Asp)
NM_138694.4(PKHD1):c.11261T>C (p.Val3754Ala)
NM_138694.4(PKHD1):c.11264G>A (p.Gly3755Glu)
NM_138694.4(PKHD1):c.11272C>T (p.Leu3758Phe)
NM_138694.4(PKHD1):c.11308C>A (p.Gln3770Lys)
NM_138694.4(PKHD1):c.11310+3A>G rs1271798139
NM_138694.4(PKHD1):c.11310G>C (p.Gln3770His)
NM_138694.4(PKHD1):c.11335C>G (p.Pro3779Ala)
NM_138694.4(PKHD1):c.11347C>G (p.Pro3783Ala)
NM_138694.4(PKHD1):c.11371G>A (p.Glu3791Lys)
NM_138694.4(PKHD1):c.11377G>A (p.Ala3793Thr)
NM_138694.4(PKHD1):c.11378C>T (p.Ala3793Val) rs1299129734
NM_138694.4(PKHD1):c.1139T>C (p.Phe380Ser)
NM_138694.4(PKHD1):c.11425G>A (p.Gly3809Ser) rs1363452328
NM_138694.4(PKHD1):c.11452G>A (p.Val3818Ile)
NM_138694.4(PKHD1):c.11452G>T (p.Val3818Phe) rs1385935333
NM_138694.4(PKHD1):c.1145C>T (p.Ala382Val)
NM_138694.4(PKHD1):c.11462C>T (p.Ser3821Phe)
NM_138694.4(PKHD1):c.11495C>A (p.Thr3832Asn)
NM_138694.4(PKHD1):c.11533C>A (p.Pro3845Thr)
NM_138694.4(PKHD1):c.11533C>T (p.Pro3845Ser) rs548244367
NM_138694.4(PKHD1):c.11542G>C (p.Val3848Leu)
NM_138694.4(PKHD1):c.11576T>C (p.Ile3859Thr)
NM_138694.4(PKHD1):c.11608T>C (p.Ser3870Pro)
NM_138694.4(PKHD1):c.1165A>G (p.Thr389Ala)
NM_138694.4(PKHD1):c.1166C>T (p.Thr389Ile)
NM_138694.4(PKHD1):c.11716C>A (p.His3906Asn)
NM_138694.4(PKHD1):c.11717A>G (p.His3906Arg)
NM_138694.4(PKHD1):c.11725A>G (p.Ile3909Val)
NM_138694.4(PKHD1):c.11768A>G (p.Asp3923Gly) rs1561981487
NM_138694.4(PKHD1):c.11785+1_11785+35del rs761547193
NM_138694.4(PKHD1):c.11785G>A (p.Asp3929Asn)
NM_138694.4(PKHD1):c.1180G>A (p.Ala394Thr) rs1582024305
NM_138694.4(PKHD1):c.11840T>C (p.Met3947Thr)
NM_138694.4(PKHD1):c.11849T>C (p.Val3950Ala)
NM_138694.4(PKHD1):c.11860A>G (p.Lys3954Glu)
NM_138694.4(PKHD1):c.11920G>A (p.Gly3974Ser) rs2150241066
NM_138694.4(PKHD1):c.11946T>A (p.Cys3982Ter)
NM_138694.4(PKHD1):c.11980C>T (p.Gln3994Ter)
NM_138694.4(PKHD1):c.12008A>G (p.Gln4003Arg)
NM_138694.4(PKHD1):c.12061_12062delinsAA (p.Cys4021Asn)
NM_138694.4(PKHD1):c.1208G>A (p.Ser403Asn)
NM_138694.4(PKHD1):c.12140C>T (p.Ser4047Phe)
NM_138694.4(PKHD1):c.12162C>A (p.Cys4054Ter) rs745888824
NM_138694.4(PKHD1):c.12187C>T (p.His4063Tyr)
NM_138694.4(PKHD1):c.12225A>G (p.Ter4075Trp)
NM_138694.4(PKHD1):c.1231A>G (p.Lys411Glu)
NM_138694.4(PKHD1):c.1255G>A (p.Val419Ile) rs138672830
NM_138694.4(PKHD1):c.1255_1256delinsTC (p.Val419Ser)
NM_138694.4(PKHD1):c.1258G>A (p.Gly420Ser)
NM_138694.4(PKHD1):c.1259G>A (p.Gly420Asp)
NM_138694.4(PKHD1):c.1262C>G (p.Thr421Ser)
NM_138694.4(PKHD1):c.1285G>A (p.Glu429Lys)
NM_138694.4(PKHD1):c.1303G>C (p.Gly435Arg) rs763244593
NM_138694.4(PKHD1):c.130G>A (p.Gly44Ser)
NM_138694.4(PKHD1):c.131-13del
NM_138694.4(PKHD1):c.1355A>G (p.Tyr452Cys)
NM_138694.4(PKHD1):c.1437T>A (p.Asn479Lys)
NM_138694.4(PKHD1):c.143G>T (p.Gly48Val) rs557361225
NM_138694.4(PKHD1):c.1448T>A (p.Val483Asp)
NM_138694.4(PKHD1):c.1465G>A (p.Glu489Lys)
NM_138694.4(PKHD1):c.1478TCCGAG[3] (p.Val495_Arg496dup) rs1554217514
NM_138694.4(PKHD1):c.1481G>A (p.Arg494Gln)
NM_138694.4(PKHD1):c.1556A>G (p.Asp519Gly)
NM_138694.4(PKHD1):c.1579C>T (p.Pro527Ser)
NM_138694.4(PKHD1):c.1602+6A>G
NM_138694.4(PKHD1):c.1603A>G (p.Ile535Val)
NM_138694.4(PKHD1):c.1609A>G (p.Thr537Ala)
NM_138694.4(PKHD1):c.1623G>C (p.Glu541Asp)
NM_138694.4(PKHD1):c.1628T>C (p.Leu543Pro)
NM_138694.4(PKHD1):c.1639T>C (p.Cys547Arg) rs1562248576
NM_138694.4(PKHD1):c.166T>C (p.Ser56Pro)
NM_138694.4(PKHD1):c.1701A>C (p.Glu567Asp)
NM_138694.4(PKHD1):c.1702G>T (p.Val568Phe)
NM_138694.4(PKHD1):c.1717G>A (p.Gly573Arg)
NM_138694.4(PKHD1):c.1747T>A (p.Cys583Ser)
NM_138694.4(PKHD1):c.1772C>T (p.Pro591Leu)
NM_138694.4(PKHD1):c.1836C>T (p.His612=)
NM_138694.4(PKHD1):c.1862T>A (p.Met621Lys)
NM_138694.4(PKHD1):c.1883T>C (p.Ile628Thr)
NM_138694.4(PKHD1):c.1895C>T (p.Thr632Ile)
NM_138694.4(PKHD1):c.1900G>A (p.Gly634Ser)
NM_138694.4(PKHD1):c.1916T>C (p.Val639Ala)
NM_138694.4(PKHD1):c.1946C>T (p.Thr649Met)
NM_138694.4(PKHD1):c.1952C>A (p.Thr651Asn)
NM_138694.4(PKHD1):c.197A>G (p.Asn66Ser)
NM_138694.4(PKHD1):c.2005C>T (p.Arg669Cys)
NM_138694.4(PKHD1):c.2014G>A (p.Gly672Arg)
NM_138694.4(PKHD1):c.2027C>A (p.Pro676His)
NM_138694.4(PKHD1):c.2035G>A (p.Ala679Thr)
NM_138694.4(PKHD1):c.2134G>C (p.Val712Leu) rs144455663
NM_138694.4(PKHD1):c.2140G>A (p.Val714Ile)
NM_138694.4(PKHD1):c.2179A>G (p.Asn727Asp)
NM_138694.4(PKHD1):c.2212C>G (p.Pro738Ala)
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.2230A>G (p.Thr744Ala)
NM_138694.4(PKHD1):c.2234C>T (p.Ser745Phe)
NM_138694.4(PKHD1):c.2269A>G (p.Ile757Val) rs777183511
NM_138694.4(PKHD1):c.2280-2A>G rs780675990
NM_138694.4(PKHD1):c.2287C>A (p.Pro763Thr)
NM_138694.4(PKHD1):c.2294A>G (p.Glu765Gly)
NM_138694.4(PKHD1):c.2308G>A (p.Gly770Arg)
NM_138694.4(PKHD1):c.2318T>C (p.Leu773Pro)
NM_138694.4(PKHD1):c.2342G>A (p.Arg781Gln)
NM_138694.4(PKHD1):c.2356C>A (p.Pro786Thr)
NM_138694.4(PKHD1):c.2360C>A (p.Pro787His)
NM_138694.4(PKHD1):c.2446C>T (p.Leu816Phe)
NM_138694.4(PKHD1):c.2483A>G (p.Tyr828Cys) rs781698219
NM_138694.4(PKHD1):c.2573A>T (p.Asp858Val)
NM_138694.4(PKHD1):c.260C>T (p.Pro87Leu)
NM_138694.4(PKHD1):c.264G>A (p.Val88=)
NM_138694.4(PKHD1):c.2722G>T (p.Val908Leu) rs2128184282
NM_138694.4(PKHD1):c.274C>A (p.Arg92=)
NM_138694.4(PKHD1):c.2772G>T (p.Gln924His)
NM_138694.4(PKHD1):c.278C>A (p.Thr93Asn)
NM_138694.4(PKHD1):c.2821+14C>G
NM_138694.4(PKHD1):c.2848A>G (p.Ile950Val)
NM_138694.4(PKHD1):c.2893A>G (p.Thr965Ala)
NM_138694.4(PKHD1):c.2948G>A (p.Cys983Tyr) rs1554208064
NM_138694.4(PKHD1):c.2971G>A (p.Gly991Arg) rs794727447
NM_138694.4(PKHD1):c.2990T>A (p.Met997Lys) rs2128182593
NM_138694.4(PKHD1):c.3016A>G (p.Ile1006Val)
NM_138694.4(PKHD1):c.3026C>G (p.Thr1009Ser)
NM_138694.4(PKHD1):c.3043C>G (p.Leu1015Val) rs1272367929
NM_138694.4(PKHD1):c.3060A>G (p.Arg1020=)
NM_138694.4(PKHD1):c.3069G>A (p.Met1023Ile)
NM_138694.4(PKHD1):c.3164A>G (p.Tyr1055Cys)
NM_138694.4(PKHD1):c.3170G>A (p.Cys1057Tyr)
NM_138694.4(PKHD1):c.3184G>A (p.Ala1062Thr)
NM_138694.4(PKHD1):c.3192C>A (p.Ser1064Arg)
NM_138694.4(PKHD1):c.319C>A (p.Leu107Met)
NM_138694.4(PKHD1):c.3217G>A (p.Val1073Ile)
NM_138694.4(PKHD1):c.3218T>C (p.Val1073Ala)
NM_138694.4(PKHD1):c.3236A>G (p.Asp1079Gly)
NM_138694.4(PKHD1):c.3238G>A (p.Gly1080Arg)
NM_138694.4(PKHD1):c.3259G>A (p.Val1087Met) rs372422063
NM_138694.4(PKHD1):c.3313T>C (p.Ser1105Pro)
NM_138694.4(PKHD1):c.3373A>G (p.Thr1125Ala) rs144365187
NM_138694.4(PKHD1):c.3374C>A (p.Thr1125Asn)
NM_138694.4(PKHD1):c.3377T>C (p.Leu1126Pro)
NM_138694.4(PKHD1):c.3443C>G (p.Ala1148Gly)
NM_138694.4(PKHD1):c.3453G>A (p.Pro1151=)
NM_138694.4(PKHD1):c.3508_3510dup (p.Gly1170_Leu1171insGly)
NM_138694.4(PKHD1):c.3614G>A (p.Cys1205Tyr)
NM_138694.4(PKHD1):c.3631G>A (p.Gly1211Arg)
NM_138694.4(PKHD1):c.3643A>G (p.Ser1215Gly) rs752105357
NM_138694.4(PKHD1):c.3644G>A (p.Ser1215Asn)
NM_138694.4(PKHD1):c.3655A>G (p.Ile1219Val)
NM_138694.4(PKHD1):c.3700A>G (p.Asn1234Asp)
NM_138694.4(PKHD1):c.3701A>G (p.Asn1234Ser) rs1802145665
NM_138694.4(PKHD1):c.3707C>T (p.Ser1236Phe) rs542983527
NM_138694.4(PKHD1):c.3734C>A (p.Ala1245Glu) rs140815495
NM_138694.4(PKHD1):c.3734C>T (p.Ala1245Val) rs140815495
NM_138694.4(PKHD1):c.3769A>G (p.Ile1257Val)
NM_138694.4(PKHD1):c.3772C>T (p.Pro1258Ser)
NM_138694.4(PKHD1):c.3784G>C (p.Ala1262Pro)
NM_138694.4(PKHD1):c.3788C>T (p.Pro1263Leu)
NM_138694.4(PKHD1):c.379T>G (p.Cys127Gly)
NM_138694.4(PKHD1):c.3805G>A (p.Val1269Met)
NM_138694.4(PKHD1):c.3817G>A (p.Ala1273Thr)
NM_138694.4(PKHD1):c.3858G>C (p.Leu1286Phe)
NM_138694.4(PKHD1):c.3920A>T (p.Gln1307Leu)
NM_138694.4(PKHD1):c.3952C>A (p.His1318Asn)
NM_138694.4(PKHD1):c.395C>T (p.Ser132Phe)
NM_138694.4(PKHD1):c.3995G>A (p.Gly1332Glu)
NM_138694.4(PKHD1):c.4066C>T (p.Leu1356Phe)
NM_138694.4(PKHD1):c.4091A>G (p.Tyr1364Cys)
NM_138694.4(PKHD1):c.4106G>A (p.Arg1369His)
NM_138694.4(PKHD1):c.412A>G (p.Ile138Val)
NM_138694.4(PKHD1):c.4139T>C (p.Val1380Ala)
NM_138694.4(PKHD1):c.4257G>T (p.Arg1419Ser)
NM_138694.4(PKHD1):c.4273C>T (p.Leu1425Phe) rs565836750
NM_138694.4(PKHD1):c.4277C>G (p.Ser1426Trp)
NM_138694.4(PKHD1):c.4297A>G (p.Ile1433Val)
NM_138694.4(PKHD1):c.4424A>C (p.Asn1475Thr)
NM_138694.4(PKHD1):c.4427G>A (p.Cys1476Tyr)
NM_138694.4(PKHD1):c.4430C>T (p.Thr1477Ile)
NM_138694.4(PKHD1):c.4436T>C (p.Phe1479Ser)
NM_138694.4(PKHD1):c.4454G>A (p.Ser1485Asn) rs370608473
NM_138694.4(PKHD1):c.4459G>A (p.Val1487Ile)
NM_138694.4(PKHD1):c.446C>T (p.Pro149Leu) rs1582123954
NM_138694.4(PKHD1):c.4504G>C (p.Val1502Leu)
NM_138694.4(PKHD1):c.4505T>A (p.Val1502Glu) rs1581806804
NM_138694.4(PKHD1):c.463G>T (p.Val155Leu)
NM_138694.4(PKHD1):c.488G>T (p.Arg163Ile) rs932913425
NM_138694.4(PKHD1):c.491T>G (p.Leu164Trp)
NM_138694.4(PKHD1):c.50C>T (p.Ala17Val)
NM_138694.4(PKHD1):c.512C>A (p.Ala171Asp)
NM_138694.4(PKHD1):c.5239T>C (p.Cys1747Arg)
NM_138694.4(PKHD1):c.5257_5259del (p.Val1753del)
NM_138694.4(PKHD1):c.528-17dup rs753686281
NM_138694.4(PKHD1):c.5299G>A (p.Ala1767Thr)
NM_138694.4(PKHD1):c.5353T>C (p.Phe1785Leu)
NM_138694.4(PKHD1):c.5358C>G (p.Ser1786Arg)
NM_138694.4(PKHD1):c.5365G>C (p.Val1789Leu) rs1288521396
NM_138694.4(PKHD1):c.5402G>T (p.Gly1801Val)
NM_138694.4(PKHD1):c.5410C>T (p.Arg1804Cys) rs201906247
NM_138694.4(PKHD1):c.5414A>T (p.Glu1805Val)
NM_138694.4(PKHD1):c.5425T>G (p.Cys1809Gly) rs1800745753
NM_138694.4(PKHD1):c.5426G>A (p.Cys1809Tyr) rs1800745257
NM_138694.4(PKHD1):c.5450T>G (p.Val1817Gly)
NM_138694.4(PKHD1):c.5456G>A (p.Cys1819Tyr)
NM_138694.4(PKHD1):c.5480C>T (p.Thr1827Ile)
NM_138694.4(PKHD1):c.5503C>T (p.Pro1835Ser) rs1562140504
NM_138694.4(PKHD1):c.5539C>T (p.Leu1847Phe)
NM_138694.4(PKHD1):c.5582T>C (p.Phe1861Ser)
NM_138694.4(PKHD1):c.5598C>G (p.Ile1866Met)
NM_138694.4(PKHD1):c.5601-6T>C
NM_138694.4(PKHD1):c.5603C>G (p.Pro1868Arg)
NM_138694.4(PKHD1):c.5665G>A (p.Glu1889Lys)
NM_138694.4(PKHD1):c.5666A>G (p.Glu1889Gly)
NM_138694.4(PKHD1):c.5681G>A (p.Cys1894Tyr)
NM_138694.4(PKHD1):c.5707G>A (p.Val1903Ile)
NM_138694.4(PKHD1):c.5716A>G (p.Thr1906Ala)
NM_138694.4(PKHD1):c.5751G>A (p.Gln1917=) rs398124489
NM_138694.4(PKHD1):c.5776C>T (p.Arg1926Trp) rs543037335
NM_138694.4(PKHD1):c.5786C>G (p.Ser1929Cys) rs1791759592
NM_138694.4(PKHD1):c.5786C>T (p.Ser1929Phe) rs1791759592
NM_138694.4(PKHD1):c.5792C>T (p.Thr1931Ile)
NM_138694.4(PKHD1):c.5801G>T (p.Trp1934Leu)
NM_138694.4(PKHD1):c.581T>C (p.Ile194Thr)
NM_138694.4(PKHD1):c.5825A>G (p.Asp1942Gly) rs1210846081
NM_138694.4(PKHD1):c.5832C>A (p.Asp1944Glu)
NM_138694.4(PKHD1):c.5835C>A (p.Asn1945Lys)
NM_138694.4(PKHD1):c.5839A>G (p.Thr1947Ala)
NM_138694.4(PKHD1):c.5869G>A (p.Asp1957Asn)
NM_138694.4(PKHD1):c.5882G>C (p.Ser1961Thr)
NM_138694.4(PKHD1):c.5902A>G (p.Ile1968Val)
NM_138694.4(PKHD1):c.5903T>G (p.Ile1968Ser) rs1791737049
NM_138694.4(PKHD1):c.5909G>C (p.Gly1970Ala)
NM_138694.4(PKHD1):c.5918T>C (p.Leu1973Pro)
NM_138694.4(PKHD1):c.5927T>C (p.Met1976Thr)
NM_138694.4(PKHD1):c.5941A>G (p.Ile1981Val) rs1233590429
NM_138694.4(PKHD1):c.5966T>C (p.Leu1989Pro)
NM_138694.4(PKHD1):c.5977G>T (p.Gly1993Cys)
NM_138694.4(PKHD1):c.5980G>A (p.Gly1994Arg)
NM_138694.4(PKHD1):c.599G>A (p.Ser200Asn)
NM_138694.4(PKHD1):c.603-16T>A
NM_138694.4(PKHD1):c.6030G>T (p.Gln2010His)
NM_138694.4(PKHD1):c.6074A>G (p.Tyr2025Cys) rs1554144226
NM_138694.4(PKHD1):c.6101A>T (p.Asn2034Ile)
NM_138694.4(PKHD1):c.6122-22A>G
NM_138694.4(PKHD1):c.6131C>T (p.Pro2044Leu)
NM_138694.4(PKHD1):c.6170C>A (p.Ala2057Asp)
NM_138694.4(PKHD1):c.619G>T (p.Asp207Tyr)
NM_138694.4(PKHD1):c.6311T>G (p.Leu2104Arg)
NM_138694.4(PKHD1):c.6317T>G (p.Leu2106Arg)
NM_138694.4(PKHD1):c.6332+3A>C
NM_138694.4(PKHD1):c.6362T>C (p.Val2121Ala)
NM_138694.4(PKHD1):c.6408C>A (p.Ser2136Arg)
NM_138694.4(PKHD1):c.6424C>G (p.Gln2142Glu)
NM_138694.4(PKHD1):c.6427G>A (p.Gly2143Arg)
NM_138694.4(PKHD1):c.6434T>G (p.Leu2145Arg)
NM_138694.4(PKHD1):c.6490+3A>G
NM_138694.4(PKHD1):c.6490G>A (p.Gly2164Ser) rs147595459
NM_138694.4(PKHD1):c.6493A>G (p.Asn2165Asp)
NM_138694.4(PKHD1):c.6501G>C (p.Gln2167His)
NM_138694.4(PKHD1):c.6571T>A (p.Ser2191Thr)
NM_138694.4(PKHD1):c.6577C>T (p.Pro2193Ser)
NM_138694.4(PKHD1):c.6635C>G (p.Ala2212Gly)
NM_138694.4(PKHD1):c.6647A>G (p.His2216Arg)
NM_138694.4(PKHD1):c.6684G>A (p.Glu2228=)
NM_138694.4(PKHD1):c.674A>G (p.Gln225Arg) rs749690371
NM_138694.4(PKHD1):c.6763G>A (p.Asp2255Asn)
NM_138694.4(PKHD1):c.6769A>G (p.Asn2257Asp)
NM_138694.4(PKHD1):c.6808+5G>C rs398124490
NM_138694.4(PKHD1):c.6818C>T (p.Thr2273Met)
NM_138694.4(PKHD1):c.685T>C (p.Phe229Leu)
NM_138694.4(PKHD1):c.6866-4_6866-2del rs748114217
NM_138694.4(PKHD1):c.6898A>G (p.Asn2300Asp) rs2127622765
NM_138694.4(PKHD1):c.689C>T (p.Ser230Leu)
NM_138694.4(PKHD1):c.6903G>T (p.Val2301=)
NM_138694.4(PKHD1):c.6924C>G (p.Ala2308=) rs373795139
NM_138694.4(PKHD1):c.6947T>C (p.Met2316Thr)
NM_138694.4(PKHD1):c.6977G>A (p.Ser2326Asn)
NM_138694.4(PKHD1):c.6986A>G (p.Asn2329Ser)
NM_138694.4(PKHD1):c.6988G>T (p.Val2330Phe)
NM_138694.4(PKHD1):c.7012G>C (p.Gly2338Arg) rs2127557145
NM_138694.4(PKHD1):c.707+5G>A
NM_138694.4(PKHD1):c.7079T>G (p.Phe2360Cys)
NM_138694.4(PKHD1):c.7103G>T (p.Cys2368Phe)
NM_138694.4(PKHD1):c.7123G>C (p.Val2375Leu)
NM_138694.4(PKHD1):c.712A>G (p.Met238Val)
NM_138694.4(PKHD1):c.7149G>T (p.Trp2383Cys)
NM_138694.4(PKHD1):c.7166C>T (p.Thr2389Ile)
NM_138694.4(PKHD1):c.7201G>C (p.Ala2401Pro)
NM_138694.4(PKHD1):c.7243A>C (p.Lys2415Gln)
NM_138694.4(PKHD1):c.7264T>G (p.Cys2422Gly) rs201881567
NM_138694.4(PKHD1):c.7283A>G (p.Asp2428Gly)
NM_138694.4(PKHD1):c.7301C>T (p.Ala2434Val) rs753450358
NM_138694.4(PKHD1):c.7400T>C (p.Leu2467Pro)
NM_138694.4(PKHD1):c.7418C>T (p.Thr2473Ile)
NM_138694.4(PKHD1):c.7450G>T (p.Ala2484Ser)
NM_138694.4(PKHD1):c.7489G>A (p.Gly2497Arg)
NM_138694.4(PKHD1):c.7514T>G (p.Leu2505Trp) rs769645972
NM_138694.4(PKHD1):c.7541T>A (p.Val2514Glu)
NM_138694.4(PKHD1):c.7543G>A (p.Ala2515Thr)
NM_138694.4(PKHD1):c.7565C>T (p.Ala2522Val)
NM_138694.4(PKHD1):c.7602A>G (p.Lys2534=)
NM_138694.4(PKHD1):c.7605C>G (p.Asn2535Lys)
NM_138694.4(PKHD1):c.7672C>T (p.Arg2558Trp)
NM_138694.4(PKHD1):c.7673G>C (p.Arg2558Pro)
NM_138694.4(PKHD1):c.7675G>T (p.Val2559Phe)
NM_138694.4(PKHD1):c.7691C>T (p.Ala2564Val)
NM_138694.4(PKHD1):c.7694G>C (p.Cys2565Ser) rs1336917781
NM_138694.4(PKHD1):c.7702G>A (p.Gly2568Ser)
NM_138694.4(PKHD1):c.7730G>A (p.Gly2577Asp)
NM_138694.4(PKHD1):c.7750G>A (p.Val2584Ile) rs748895723
NM_138694.4(PKHD1):c.7762T>G (p.Leu2588Val)
NM_138694.4(PKHD1):c.778+3A>G
NM_138694.4(PKHD1):c.7811G>A (p.Arg2604His)
NM_138694.4(PKHD1):c.7823C>A (p.Ser2608Tyr)
NM_138694.4(PKHD1):c.7831C>T (p.Arg2611Cys)
NM_138694.4(PKHD1):c.7909C>G (p.Gln2637Glu)
NM_138694.4(PKHD1):c.7946A>T (p.Asn2649Ile) rs2151628916
NM_138694.4(PKHD1):c.7982A>C (p.Tyr2661Ser)
NM_138694.4(PKHD1):c.7993C>T (p.Leu2665Phe)
NM_138694.4(PKHD1):c.7994T>C (p.Leu2665Pro)
NM_138694.4(PKHD1):c.800_802delinsTAC (p.Glu267_Thr268delinsValPro)
NM_138694.4(PKHD1):c.8071T>G (p.Phe2691Val)
NM_138694.4(PKHD1):c.8093A>C (p.Gln2698Pro) rs1771471295
NM_138694.4(PKHD1):c.810C>A (p.Ser270Arg) rs754448530
NM_138694.4(PKHD1):c.8157G>T (p.Met2719Ile)
NM_138694.4(PKHD1):c.8159C>T (p.Pro2720Leu)
NM_138694.4(PKHD1):c.8188C>G (p.Pro2730Ala)
NM_138694.4(PKHD1):c.8224T>C (p.Trp2742Arg)
NM_138694.4(PKHD1):c.8227C>G (p.Gln2743Glu)
NM_138694.4(PKHD1):c.8243_8244delinsCT (p.Gly2748Ala) rs1562410143
NM_138694.4(PKHD1):c.8248G>A (p.Gly2750Arg)
NM_138694.4(PKHD1):c.8267T>C (p.Ile2756Thr)
NM_138694.4(PKHD1):c.8286C>G (p.Asp2762Glu)
NM_138694.4(PKHD1):c.8287G>A (p.Val2763Ile)
NM_138694.4(PKHD1):c.8299C>T (p.Pro2767Ser) rs764600547
NM_138694.4(PKHD1):c.8348T>C (p.Leu2783Pro)
NM_138694.4(PKHD1):c.8351A>G (p.Tyr2784Cys) rs1793710520
NM_138694.4(PKHD1):c.8396T>A (p.Leu2799Gln)
NM_138694.4(PKHD1):c.8409C>T (p.Cys2803=)
NM_138694.4(PKHD1):c.8420C>T (p.Ala2807Val)
NM_138694.4(PKHD1):c.8455C>T (p.Pro2819Ser) rs886043763
NM_138694.4(PKHD1):c.847T>C (p.Phe283Leu) rs375145340
NM_138694.4(PKHD1):c.8546G>C (p.Gly2849Ala)
NM_138694.4(PKHD1):c.8566A>G (p.Lys2856Glu)
NM_138694.4(PKHD1):c.8621A>T (p.Asp2874Val) rs1582601370
NM_138694.4(PKHD1):c.8624T>C (p.Ile2875Thr)
NM_138694.4(PKHD1):c.8642+19T>G
NM_138694.4(PKHD1):c.8654A>C (p.Glu2885Ala)
NM_138694.4(PKHD1):c.8683A>G (p.Lys2895Glu) rs1786704837
NM_138694.4(PKHD1):c.8695A>C (p.Ser2899Arg)
NM_138694.4(PKHD1):c.8762T>G (p.Val2921Gly)
NM_138694.4(PKHD1):c.8797+20G>T rs766264473
NM_138694.4(PKHD1):c.8798-15C>A
NM_138694.4(PKHD1):c.8798G>A (p.Gly2933Glu)
NM_138694.4(PKHD1):c.8837T>C (p.Leu2946Ser) rs1582469785
NM_138694.4(PKHD1):c.8843C>T (p.Ala2948Val)
NM_138694.4(PKHD1):c.8861C>T (p.Thr2954Ile)
NM_138694.4(PKHD1):c.8871A>G (p.Ile2957Met)
NM_138694.4(PKHD1):c.8882C>T (p.Pro2961Leu)
NM_138694.4(PKHD1):c.8899G>A (p.Gly2967Arg)
NM_138694.4(PKHD1):c.8923A>T (p.Arg2975Trp)
NM_138694.4(PKHD1):c.8951G>A (p.Gly2984Asp)
NM_138694.4(PKHD1):c.8971G>A (p.Val2991Met)
NM_138694.4(PKHD1):c.8998T>G (p.Leu3000Val)
NM_138694.4(PKHD1):c.9079G>A (p.Gly3027Ser)
NM_138694.4(PKHD1):c.907T>C (p.Ser303Pro)
NM_138694.4(PKHD1):c.9095C>A (p.Ala3032Asp) rs1444969670
NM_138694.4(PKHD1):c.9148G>T (p.Gly3050Cys)
NM_138694.4(PKHD1):c.9170C>T (p.Ala3057Val)
NM_138694.4(PKHD1):c.9196G>A (p.Val3066Ile)
NM_138694.4(PKHD1):c.9226A>C (p.Ile3076Leu)
NM_138694.4(PKHD1):c.925T>C (p.Cys309Arg)
NM_138694.4(PKHD1):c.926G>C (p.Cys309Ser)
NM_138694.4(PKHD1):c.9289G>A (p.Ala3097Thr)
NM_138694.4(PKHD1):c.9365T>C (p.Val3122Ala)
NM_138694.4(PKHD1):c.9369G>T (p.Ala3123=) rs745523374
NM_138694.4(PKHD1):c.93C>A (p.Ser31Arg)
NM_138694.4(PKHD1):c.9445G>A (p.Ala3149Thr)
NM_138694.4(PKHD1):c.9479A>T (p.His3160Leu)
NM_138694.4(PKHD1):c.9485A>G (p.Glu3162Gly)
NM_138694.4(PKHD1):c.9533G>A (p.Gly3178Asp)
NM_138694.4(PKHD1):c.9602G>A (p.Arg3201Lys)
NM_138694.4(PKHD1):c.9614T>C (p.Ile3205Thr)
NM_138694.4(PKHD1):c.9625A>C (p.Ser3209Arg) rs1785450007
NM_138694.4(PKHD1):c.9667T>C (p.Ser3223Pro)
NM_138694.4(PKHD1):c.9668C>T (p.Ser3223Leu)
NM_138694.4(PKHD1):c.9693A>C (p.Arg3231Ser) rs1194740215
NM_138694.4(PKHD1):c.9705T>A (p.Asn3235Lys) rs759568939
NM_138694.4(PKHD1):c.9739G>C (p.Val3247Leu) rs2150981332
NM_138694.4(PKHD1):c.9811G>A (p.Gly3271Arg)
NM_138694.4(PKHD1):c.9820A>G (p.Lys3274Glu)
NM_138694.4(PKHD1):c.9830-10A>G
NM_138694.4(PKHD1):c.9830-6T>A
NM_138694.4(PKHD1):c.9856A>G (p.Ser3286Gly)
NM_138694.4(PKHD1):c.9866G>A (p.Ser3289Asn)
NM_138694.4(PKHD1):c.9868G>A (p.Asp3290Asn) rs370659581
NM_138694.4(PKHD1):c.9923C>G (p.Pro3308Arg) rs1307732644
NM_138694.4(PKHD1):c.9970A>G (p.Lys3324Glu) rs1785240656
NM_138694.4(PKHD1):c.9974_9976del (p.Phe3325del)

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