ClinVar Miner

List of variants in gene PKHD1 studied for PKHD1-related condition

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Gene type:
ClinVar version:
Total variants: 315
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HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.1964+17G>T rs201349527 0.00517
NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile) rs148932323 0.00287
NM_138694.4(PKHD1):c.9788T>C (p.Val3263Ala) rs146519878 0.00261
NM_138694.4(PKHD1):c.1950G>A (p.Arg650=) rs143226202 0.00257
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala) rs147222255 0.00223
NM_138694.4(PKHD1):c.652G>A (p.Glu218Lys) rs149522482 0.00198
NM_138694.4(PKHD1):c.1342G>C (p.Gly448Arg) rs149781976 0.00146
NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu) rs142526715 0.00145
NM_138694.4(PKHD1):c.7307C>T (p.Thr2436Ile) rs147851214 0.00145
NM_138694.4(PKHD1):c.11338C>T (p.Pro3780Ser) rs41273722 0.00140
NM_138694.4(PKHD1):c.281+3A>G rs79803080 0.00113
NM_138694.4(PKHD1):c.275G>A (p.Arg92Gln) rs145886657 0.00101
NM_138694.4(PKHD1):c.12027C>G (p.Tyr4009Ter) rs143616240 0.00100
NM_138694.4(PKHD1):c.11002G>T (p.Asp3668Tyr) rs114237522 0.00099
NM_138694.4(PKHD1):c.1307C>G (p.Thr436Ser) rs146789444 0.00093
NM_138694.4(PKHD1):c.3834C>T (p.Phe1278=) rs145960781 0.00088
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.9215C>T (p.Ala3072Val) rs139306706 0.00073
NM_138694.4(PKHD1):c.1925C>T (p.Thr642Ile) rs138968608 0.00070
NM_138694.4(PKHD1):c.7675G>C (p.Val2559Leu) rs150046042 0.00070
NM_138694.4(PKHD1):c.9553G>A (p.Val3185Ile) rs145651593 0.00066
NM_138694.4(PKHD1):c.2243C>T (p.Ala748Val) rs141622697 0.00061
NM_138694.4(PKHD1):c.7744C>T (p.Pro2582Ser) rs200204857 0.00061
NM_138694.4(PKHD1):c.2194G>T (p.Val732Phe) rs201432731 0.00058
NM_138694.4(PKHD1):c.11800G>A (p.Val3934Ile) rs149111536 0.00057
NM_138694.4(PKHD1):c.5768A>T (p.Gln1923Leu) rs150838488 0.00057
NM_138694.4(PKHD1):c.10210A>G (p.Ile3404Val) rs147612089 0.00056
NM_138694.4(PKHD1):c.10859G>A (p.Arg3620His) rs149163661 0.00054
NM_138694.4(PKHD1):c.1119-18C>G rs367960459 0.00053
NM_138694.4(PKHD1):c.3303A>G (p.Thr1101=) rs148335285 0.00052
NM_138694.4(PKHD1):c.10531G>A (p.Gly3511Arg) rs112030234 0.00049
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_138694.4(PKHD1):c.6782A>G (p.Asn2261Ser) rs146102132 0.00048
NM_138694.4(PKHD1):c.12198C>T (p.His4066=) rs147051900 0.00039
NM_138694.4(PKHD1):c.325G>A (p.Ala109Thr) rs143979330 0.00035
NM_138694.4(PKHD1):c.5731C>T (p.Arg1911Cys) rs149553146 0.00033
NM_138694.4(PKHD1):c.2825G>C (p.Gly942Ala) rs142205860 0.00032
NM_138694.4(PKHD1):c.4266G>A (p.Arg1422=) rs146468152 0.00029
NM_138694.4(PKHD1):c.8174-19A>T rs758233215 0.00028
NM_138694.4(PKHD1):c.10909C>T (p.Arg3637Cys) rs141349745 0.00025
NM_138694.4(PKHD1):c.9493G>A (p.Val3165Met) rs199621305 0.00025
NM_138694.4(PKHD1):c.3761C>G (p.Ala1254Gly) rs148901752 0.00023
NM_138694.4(PKHD1):c.9478C>T (p.His3160Tyr) rs147351244 0.00022
NM_138694.4(PKHD1):c.8554+3A>G rs370312392 0.00021
NM_138694.4(PKHD1):c.7170T>C (p.Thr2390=) rs368101035 0.00020
NM_138694.4(PKHD1):c.11737C>T (p.Arg3913Cys) rs151198392 0.00019
NM_138694.4(PKHD1):c.8187C>A (p.Ala2729=) rs149310653 0.00019
NM_138694.4(PKHD1):c.6490+8A>G rs201984652 0.00018
NM_138694.4(PKHD1):c.2532C>T (p.Tyr844=) rs150202544 0.00017
NM_138694.4(PKHD1):c.7533A>G (p.Ser2511=) rs200679577 0.00017
NM_138694.4(PKHD1):c.831C>T (p.Ile277=) rs142678486 0.00017
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.2781A>G (p.Gln927=) rs200511208 0.00016
NM_138694.4(PKHD1):c.4447G>A (p.Glu1483Lys) rs146745096 0.00016
NM_138694.4(PKHD1):c.12110T>C (p.Leu4037Pro) rs199900211 0.00015
NM_138694.4(PKHD1):c.588G>A (p.Arg196=) rs201773743 0.00015
NM_138694.4(PKHD1):c.658G>A (p.Asp220Asn) rs199897497 0.00015
NM_138694.4(PKHD1):c.2637G>A (p.Thr879=) rs147915980 0.00014
NM_138694.4(PKHD1):c.812T>A (p.Leu271His) rs750887164 0.00014
NM_138694.4(PKHD1):c.977-7C>G rs1054774956 0.00014
NM_138694.4(PKHD1):c.3804C>T (p.Ala1268=) rs201769990 0.00012
NM_138694.4(PKHD1):c.5829C>T (p.Gly1943=) rs376709130 0.00012
NM_138694.4(PKHD1):c.7911+5C>A rs199953233 0.00012
NM_138694.4(PKHD1):c.4304G>C (p.Ser1435Thr) rs138242579 0.00011
NM_138694.4(PKHD1):c.7091T>A (p.Ile2364Asn) rs76260483 0.00011
NM_138694.4(PKHD1):c.8407T>C (p.Cys2803Arg) rs398124495 0.00011
NM_138694.4(PKHD1):c.1018G>A (p.Gly340Arg) rs368351830 0.00010
NM_138694.4(PKHD1):c.6687T>C (p.Ser2229=) rs148497044 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.12087G>A (p.Gln4029=) rs750130747 0.00009
NM_138694.4(PKHD1):c.1835A>G (p.His612Arg) rs369932370 0.00009
NM_138694.4(PKHD1):c.2162C>T (p.Thr721Met) rs140608845 0.00009
NM_138694.4(PKHD1):c.282-3C>T rs535210707 0.00009
NM_138694.4(PKHD1):c.8364C>T (p.Thr2788=) rs777017196 0.00009
NM_138694.4(PKHD1):c.9345A>G (p.Glu3115=) rs760710708 0.00009
NM_138694.4(PKHD1):c.9663G>A (p.Pro3221=) rs371508721 0.00009
NM_138694.4(PKHD1):c.11836T>C (p.Leu3946=) rs35403035 0.00008
NM_138694.4(PKHD1):c.1833A>C (p.Thr611=) rs142922408 0.00008
NM_138694.4(PKHD1):c.4009G>A (p.Asp1337Asn) rs373255125 0.00008
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val) rs369925690 0.00008
NM_138694.4(PKHD1):c.708-5C>T rs371844893 0.00008
NM_138694.4(PKHD1):c.10413C>G (p.Val3471=) rs147440122 0.00007
NM_138694.4(PKHD1):c.8870T>C (p.Ile2957Thr) rs760222236 0.00007
NM_138694.4(PKHD1):c.11318G>T (p.Arg3773Ile) rs200114268 0.00006
NM_138694.4(PKHD1):c.171A>G (p.Gln57=) rs543640706 0.00006
NM_138694.4(PKHD1):c.1816C>T (p.Arg606Trp) rs560133266 0.00006
NM_138694.4(PKHD1):c.2091G>A (p.Thr697=) rs147826962 0.00006
NM_138694.4(PKHD1):c.3628+9C>A rs552339299 0.00006
NM_138694.4(PKHD1):c.5538C>T (p.Cys1846=) rs373244595 0.00006
NM_138694.4(PKHD1):c.5772C>T (p.Phe1924=) rs141473212 0.00006
NM_138694.4(PKHD1):c.7163G>A (p.Gly2388Asp) rs371830478 0.00006
NM_138694.4(PKHD1):c.7810C>T (p.Arg2604Cys) rs201091083 0.00006
NM_138694.4(PKHD1):c.7977G>A (p.Pro2659=) rs748084543 0.00006
NM_138694.4(PKHD1):c.8335T>G (p.Phe2779Val) rs144106341 0.00006
NM_138694.4(PKHD1):c.9576C>T (p.Ser3192=) rs201670044 0.00006
NM_138694.4(PKHD1):c.11224G>A (p.Ala3742Thr) rs557211301 0.00005
NM_138694.4(PKHD1):c.11607C>T (p.Ala3869=) rs752509045 0.00005
NM_138694.4(PKHD1):c.161A>G (p.Asn54Ser) rs374566843 0.00005
NM_138694.4(PKHD1):c.1772C>G (p.Pro591Arg) rs201824369 0.00005
NM_138694.4(PKHD1):c.2184G>A (p.Leu728=) rs926797825 0.00005
NM_138694.4(PKHD1):c.49G>T (p.Ala17Ser) rs149293970 0.00005
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr) rs200511261 0.00005
NM_138694.4(PKHD1):c.9689del (p.Asp3230fs) rs398124502 0.00005
NM_138694.4(PKHD1):c.977-9G>A rs372205619 0.00005
NM_138694.4(PKHD1):c.10983G>A (p.Val3661=) rs754613918 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.150T>G (p.Leu50=) rs529214120 0.00004
NM_138694.4(PKHD1):c.2330C>T (p.Thr777Met) rs564240823 0.00004
NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu) rs367707903 0.00004
NM_138694.4(PKHD1):c.4105C>T (p.Arg1369Cys) rs368974211 0.00004
NM_138694.4(PKHD1):c.4292G>A (p.Cys1431Tyr) rs753307105 0.00004
NM_138694.4(PKHD1):c.4558G>A (p.Val1520Met) rs201858937 0.00004
NM_138694.4(PKHD1):c.5958C>T (p.His1986=) rs745388926 0.00004
NM_138694.4(PKHD1):c.6626T>C (p.Leu2209Ser) rs757627773 0.00004
NM_138694.4(PKHD1):c.6900C>T (p.Asn2300=) rs776060304 0.00004
NM_138694.4(PKHD1):c.8286C>T (p.Asp2762=) rs749740610 0.00004
NM_138694.4(PKHD1):c.10350C>T (p.Cys3450=) rs765652131 0.00003
NM_138694.4(PKHD1):c.10658T>C (p.Ile3553Thr) rs137852948 0.00003
NM_138694.4(PKHD1):c.11506+7T>G rs1204730138 0.00003
NM_138694.4(PKHD1):c.11507-8C>T rs755710579 0.00003
NM_138694.4(PKHD1):c.12021C>G (p.Leu4007=) rs761543328 0.00003
NM_138694.4(PKHD1):c.1913T>C (p.Met638Thr) rs181546197 0.00003
NM_138694.4(PKHD1):c.3366C>T (p.Gly1122=) rs145979687 0.00003
NM_138694.4(PKHD1):c.3835G>A (p.Ala1279Thr) rs201611688 0.00003
NM_138694.4(PKHD1):c.3846T>G (p.Pro1282=) rs760349514 0.00003
NM_138694.4(PKHD1):c.5385C>T (p.Ser1795=) rs772277538 0.00003
NM_138694.4(PKHD1):c.7361G>A (p.Cys2454Tyr) rs747072396 0.00003
NM_138694.4(PKHD1):c.10174C>T (p.Gln3392Ter) rs201082169 0.00002
NM_138694.4(PKHD1):c.10233G>C (p.Val3411=) rs1162292670 0.00002
NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys) rs148617572 0.00002
NM_138694.4(PKHD1):c.1218G>T (p.Glu406Asp) rs748017071 0.00002
NM_138694.4(PKHD1):c.1803C>T (p.Ala601=) rs150333445 0.00002
NM_138694.4(PKHD1):c.2265G>A (p.Pro755=) rs375603741 0.00002
NM_138694.4(PKHD1):c.2291C>T (p.Thr764Ile) rs190315828 0.00002
NM_138694.4(PKHD1):c.3953A>T (p.His1318Leu) rs200733734 0.00002
NM_138694.4(PKHD1):c.5499G>A (p.Ser1833=) rs557919334 0.00002
NM_138694.4(PKHD1):c.6122-13C>T rs757378511 0.00002
NM_138694.4(PKHD1):c.624T>C (p.His208=) rs767511678 0.00002
NM_138694.4(PKHD1):c.7737G>A (p.Ala2579=) rs759139294 0.00002
NM_138694.4(PKHD1):c.8313C>T (p.Val2771=) rs368995583 0.00002
NM_138694.4(PKHD1):c.8425G>A (p.Gly2809Arg) rs398124497 0.00002
NM_138694.4(PKHD1):c.873C>T (p.Thr291=) rs769773725 0.00002
NM_138694.4(PKHD1):c.9075C>T (p.Gly3025=) rs200466480 0.00002
NM_138694.4(PKHD1):c.978C>G (p.Gly326=) rs759233307 0.00002
NM_138694.4(PKHD1):c.10302T>G (p.Thr3434=) rs776512983 0.00001
NM_138694.4(PKHD1):c.10893T>C (p.Tyr3631=) rs1290859259 0.00001
NM_138694.4(PKHD1):c.11311-8A>G rs201733977 0.00001
NM_138694.4(PKHD1):c.11740C>T (p.Arg3914Ter) rs761704401 0.00001
NM_138694.4(PKHD1):c.1187G>A (p.Ser396Asn) rs772507975 0.00001
NM_138694.4(PKHD1):c.1198T>C (p.Leu400=) rs1582024099 0.00001
NM_138694.4(PKHD1):c.12159C>T (p.Ser4053=) rs1186724457 0.00001
NM_138694.4(PKHD1):c.12201G>T (p.Pro4067=) rs750988521 0.00001
NM_138694.4(PKHD1):c.192C>T (p.Asn64=) rs148089143 0.00001
NM_138694.4(PKHD1):c.210C>T (p.Pro70=) rs372103359 0.00001
NM_138694.4(PKHD1):c.2275G>A (p.Ala759Thr) rs550730673 0.00001
NM_138694.4(PKHD1):c.2279G>A (p.Arg760His) rs745770404 0.00001
NM_138694.4(PKHD1):c.23T>C (p.Leu8Pro) rs750588859 0.00001
NM_138694.4(PKHD1):c.2697T>A (p.Thr899=) rs1562217633 0.00001
NM_138694.4(PKHD1):c.2725C>T (p.Arg909Ter) rs727504089 0.00001
NM_138694.4(PKHD1):c.2811G>A (p.Trp937Ter) rs1344820986 0.00001
NM_138694.4(PKHD1):c.2864T>G (p.Phe955Cys) rs777158800 0.00001
NM_138694.4(PKHD1):c.2979T>C (p.His993=) rs528105052 0.00001
NM_138694.4(PKHD1):c.3462A>G (p.Thr1154=) rs758231968 0.00001
NM_138694.4(PKHD1):c.3747T>G (p.Cys1249Trp) rs748540413 0.00001
NM_138694.4(PKHD1):c.4212G>A (p.Gly1404=) rs751984319 0.00001
NM_138694.4(PKHD1):c.528-9T>A rs765406968 0.00001
NM_138694.4(PKHD1):c.5534A>G (p.Gln1845Arg) rs566044331 0.00001
NM_138694.4(PKHD1):c.5541C>G (p.Leu1847=) rs1355951747 0.00001
NM_138694.4(PKHD1):c.5601-8C>T rs578030952 0.00001
NM_138694.4(PKHD1):c.6042C>T (p.Tyr2014=) rs373208457 0.00001
NM_138694.4(PKHD1):c.6046A>T (p.Ser2016Cys) rs1413693039 0.00001
NM_138694.4(PKHD1):c.6351A>G (p.Thr2117=) rs766729223 0.00001
NM_138694.4(PKHD1):c.642G>A (p.Gln214=) rs762584715 0.00001
NM_138694.4(PKHD1):c.6630G>A (p.Gly2210=) rs1199629361 0.00001
NM_138694.4(PKHD1):c.6802C>T (p.Leu2268=) rs758494106 0.00001
NM_138694.4(PKHD1):c.6996+9T>A rs878855203 0.00001
NM_138694.4(PKHD1):c.7308T>G (p.Thr2436=) rs771622189 0.00001
NM_138694.4(PKHD1):c.7482A>T (p.Gly2494=) rs199996156 0.00001
NM_138694.4(PKHD1):c.7641A>G (p.Ser2547=) rs771563591 0.00001
NM_138694.4(PKHD1):c.779-7C>G rs749068364 0.00001
NM_138694.4(PKHD1):c.8068T>C (p.Trp2690Arg) rs886061616 0.00001
NM_138694.4(PKHD1):c.8317G>T (p.Val2773Leu) rs747322128 0.00001
NM_138694.4(PKHD1):c.8430G>A (p.Glu2810=) rs1188949424 0.00001
NM_138694.4(PKHD1):c.8532T>A (p.Ile2844=) rs941290574 0.00001
NM_138694.4(PKHD1):c.8555-2A>C rs1020621286 0.00001
NM_138694.4(PKHD1):c.881-7G>A rs776386120 0.00001
NM_138694.4(PKHD1):c.9461A>G (p.Asp3154Gly) rs1477456222 0.00001
NM_138694.4(PKHD1):c.9837C>T (p.Thr3279=) rs763551387 0.00001
NM_138694.4(PKHD1):c.-17T>C
NM_138694.4(PKHD1):c.10109dup (p.Phe3371fs) rs1057517071
NM_138694.4(PKHD1):c.10156+22359C>T
NM_138694.4(PKHD1):c.10157-9_10157-5del rs1374480151
NM_138694.4(PKHD1):c.10316_10318del (p.Asp3439del)
NM_138694.4(PKHD1):c.10324A>G (p.Ser3442Gly)
NM_138694.4(PKHD1):c.10499A>G (p.Tyr3500Cys)
NM_138694.4(PKHD1):c.10528T>C (p.Leu3510=)
NM_138694.4(PKHD1):c.10681A>G (p.Ile3561Val)
NM_138694.4(PKHD1):c.10789T>C (p.Phe3597Leu)
NM_138694.4(PKHD1):c.1081C>T (p.Pro361Ser)
NM_138694.4(PKHD1):c.10869T>A (p.Pro3623=)
NM_138694.4(PKHD1):c.10883C>T (p.Thr3628Ile) rs147700643
NM_138694.4(PKHD1):c.1088G>A (p.Gly363Glu) rs573293029
NM_138694.4(PKHD1):c.10907A>T (p.Gln3636Leu)
NM_138694.4(PKHD1):c.10957A>G (p.Met3653Val)
NM_138694.4(PKHD1):c.1100A>G (p.Gln367Arg)
NM_138694.4(PKHD1):c.11092C>A (p.Gln3698Lys)
NM_138694.4(PKHD1):c.1119-16A>G
NM_138694.4(PKHD1):c.1119-9A>G rs1190120876
NM_138694.4(PKHD1):c.11310+1G>C rs1365407882
NM_138694.4(PKHD1):c.11310+5C>T
NM_138694.4(PKHD1):c.11378C>T (p.Ala3793Val) rs1299129734
NM_138694.4(PKHD1):c.11484T>G (p.Ile3828Met)
NM_138694.4(PKHD1):c.11540C>T (p.Ala3847Val)
NM_138694.4(PKHD1):c.11595G>A (p.Leu3865=)
NM_138694.4(PKHD1):c.11717A>G (p.His3906Arg)
NM_138694.4(PKHD1):c.11747C>G (p.Ser3916Ter) rs760426769
NM_138694.4(PKHD1):c.11789T>A (p.Met3930Lys) rs148691090
NM_138694.4(PKHD1):c.12054G>A (p.Leu4018=)
NM_138694.4(PKHD1):c.12142_12143inv (p.Gln4048Ter)
NM_138694.4(PKHD1):c.12147G>A (p.Glu4049=) rs1561967407
NM_138694.4(PKHD1):c.1492del (p.Gln498fs)
NM_138694.4(PKHD1):c.158A>G (p.Asn53Ser) rs141790557
NM_138694.4(PKHD1):c.1701A>C (p.Glu567Asp)
NM_138694.4(PKHD1):c.1822G>T (p.Asp608Tyr)
NM_138694.4(PKHD1):c.1838T>G (p.Leu613Arg)
NM_138694.4(PKHD1):c.1842T>C (p.Cys614=)
NM_138694.4(PKHD1):c.2005C>T (p.Arg669Cys)
NM_138694.4(PKHD1):c.2035G>A (p.Ala679Thr)
NM_138694.4(PKHD1):c.208C>A (p.Pro70Thr) rs781485593
NM_138694.4(PKHD1):c.2200G>A (p.Val734Met)
NM_138694.4(PKHD1):c.220A>C (p.Ser74Arg)
NM_138694.4(PKHD1):c.2279+6G>A
NM_138694.4(PKHD1):c.2280-2A>G rs780675990
NM_138694.4(PKHD1):c.2280-6C>G
NM_138694.4(PKHD1):c.2284G>A (p.Val762Met)
NM_138694.4(PKHD1):c.2299_2306delinsTCTG (p.Thr767fs) rs1064796287
NM_138694.4(PKHD1):c.2432A>G (p.His811Arg)
NM_138694.4(PKHD1):c.2490T>A (p.Asn830Lys)
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>T (p.Arg92Trp) rs370277502
NM_138694.4(PKHD1):c.2763C>G (p.Cys921Trp)
NM_138694.4(PKHD1):c.2821+9T>C rs1581914451
NM_138694.4(PKHD1):c.284C>T (p.Ser95Phe)
NM_138694.4(PKHD1):c.2927C>T (p.Ser976Leu)
NM_138694.4(PKHD1):c.2934G>A (p.Gln978=) rs536715802
NM_138694.4(PKHD1):c.3184G>A (p.Ala1062Thr)
NM_138694.4(PKHD1):c.3202A>T (p.Arg1068Ter)
NM_138694.4(PKHD1):c.3302C>T (p.Thr1101Ile)
NM_138694.4(PKHD1):c.3334A>G (p.Thr1112Ala)
NM_138694.4(PKHD1):c.3363_3364insATATA (p.Gly1122delinsIleTer)
NM_138694.4(PKHD1):c.3538G>A (p.Gly1180Arg)
NM_138694.4(PKHD1):c.3591A>G (p.Glu1197=) rs1217153511
NM_138694.4(PKHD1):c.3761_3762delinsG (p.Ala1254fs) rs398124484
NM_138694.4(PKHD1):c.3920A>T (p.Gln1307Leu)
NM_138694.4(PKHD1):c.4091A>G (p.Tyr1364Cys)
NM_138694.4(PKHD1):c.4341G>T (p.Leu1447=) rs1562165566
NM_138694.4(PKHD1):c.4465G>C (p.Asp1489His)
NM_138694.4(PKHD1):c.449-15TTC[2] rs545812620
NM_138694.4(PKHD1):c.52+10A>G
NM_138694.4(PKHD1):c.528-17dup rs753686281
NM_138694.4(PKHD1):c.5410C>T (p.Arg1804Cys) rs201906247
NM_138694.4(PKHD1):c.5411del (p.Arg1804fs) rs1554194574
NM_138694.4(PKHD1):c.5751G>A (p.Gln1917=) rs398124489
NM_138694.4(PKHD1):c.5826T>C (p.Asp1942=)
NM_138694.4(PKHD1):c.5841A>C (p.Thr1947=) rs780854942
NM_138694.4(PKHD1):c.5852G>C (p.Gly1951Ala)
NM_138694.4(PKHD1):c.5909-2del rs1334913120
NM_138694.4(PKHD1):c.5917C>T (p.Leu1973=)
NM_138694.4(PKHD1):c.6332+2T>A rs1783090781
NM_138694.4(PKHD1):c.6333-13dup rs138161138
NM_138694.4(PKHD1):c.6333-5T>A
NM_138694.4(PKHD1):c.6375C>T (p.His2125=)
NM_138694.4(PKHD1):c.6490+4G>A
NM_138694.4(PKHD1):c.6628G>C (p.Gly2210Arg)
NM_138694.4(PKHD1):c.6659T>A (p.Leu2220His)
NM_138694.4(PKHD1):c.666C>T (p.Ile222=)
NM_138694.4(PKHD1):c.6683-2A>G
NM_138694.4(PKHD1):c.6704C>A (p.Thr2235Lys)
NM_138694.4(PKHD1):c.6730C>G (p.Leu2244Val)
NM_138694.4(PKHD1):c.6809-9T>G
NM_138694.4(PKHD1):c.6814T>C (p.Cys2272Arg)
NM_138694.4(PKHD1):c.6922_6931delinsTGATCAGGT (p.Ala2308_Leu2311delinsTer)
NM_138694.4(PKHD1):c.7050_7053del (p.Asn2350fs)
NM_138694.4(PKHD1):c.716T>C (p.Val239Ala)
NM_138694.4(PKHD1):c.7264T>G (p.Cys2422Gly) rs201881567
NM_138694.4(PKHD1):c.7275del (p.Phe2425fs)
NM_138694.4(PKHD1):c.7479A>G (p.Gln2493=)
NM_138694.4(PKHD1):c.7737G>T (p.Ala2579=)
NM_138694.4(PKHD1):c.778+10C>G rs1365502451
NM_138694.4(PKHD1):c.813T>C (p.Leu271=)
NM_138694.4(PKHD1):c.8173+16C>T
NM_138694.4(PKHD1):c.8321A>C (p.Asp2774Ala)
NM_138694.4(PKHD1):c.832A>C (p.Thr278Pro)
NM_138694.4(PKHD1):c.8455C>T (p.Pro2819Ser) rs886043763
NM_138694.4(PKHD1):c.8476C>T (p.Leu2826Phe)
NM_138694.4(PKHD1):c.847T>C (p.Phe283Leu) rs375145340
NM_138694.4(PKHD1):c.8492G>A (p.Arg2831Lys)
NM_138694.4(PKHD1):c.8555-9T>C
NM_138694.4(PKHD1):c.85G>T (p.Glu29Ter) rs398124498
NM_138694.4(PKHD1):c.8642G>A (p.Arg2881Lys)
NM_138694.4(PKHD1):c.8798-468C>T
NM_138694.4(PKHD1):c.8807A>G (p.His2936Arg)
NM_138694.4(PKHD1):c.8950+1G>A
NM_138694.4(PKHD1):c.9308G>A (p.Gly3103Asp)
NM_138694.4(PKHD1):c.9369G>T (p.Ala3123=) rs745523374
NM_138694.4(PKHD1):c.9526A>G (p.Thr3176Ala)
NM_138694.4(PKHD1):c.9719G>T (p.Arg3240Leu) rs146649803
NM_138694.4(PKHD1):c.976+8A>G
NM_138694.4(PKHD1):c.9780G>A (p.Trp3260Ter)
NM_138694.4(PKHD1):c.9820A>G (p.Lys3274Glu)

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