NM_138694.4(PKHD1):c.652G>A (p.Glu218Lys)
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rs149522482
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0.00198
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NM_138694.4(PKHD1):c.10926G>A (p.Met3642Ile)
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rs78518523
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0.00076
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NM_138694.4(PKHD1):c.1486C>T (p.Arg496Ter)
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rs137852949
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0.00066
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NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)
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rs137852944
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0.00048
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NM_138694.4(PKHD1):c.5895dup (p.Leu1966fs)
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rs746838237
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0.00010
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NM_138694.4(PKHD1):c.664A>G (p.Ile222Val)
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rs369925690
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0.00008
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NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp)
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rs200391019
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0.00006
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NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu)
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rs367707903
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0.00004
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NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala)
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rs199568593
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0.00002
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NM_138694.4(PKHD1):c.390+1G>T
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rs752327566
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0.00002
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NM_138694.4(PKHD1):c.9107T>G (p.Val3036Gly)
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rs893497345
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0.00002
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NM_138694.4(PKHD1):c.2702A>C (p.Asn901Thr)
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rs764696718
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0.00001
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NM_138694.4(PKHD1):c.2725C>T (p.Arg909Ter)
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rs727504089
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0.00001
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NM_138694.4(PKHD1):c.707+1G>A
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rs748365248
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0.00001
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NM_138694.4(PKHD1):c.7717C>T (p.Arg2573Cys)
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rs752994816
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0.00001
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NM_138694.4(PKHD1):c.10168G>T (p.Glu3390Ter)
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NM_138694.4(PKHD1):c.10688T>A (p.Leu3563Ter)
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NM_138694.4(PKHD1):c.10978A>T (p.Lys3660Ter)
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NM_138694.4(PKHD1):c.11059C>T (p.Gln3687Ter)
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NM_138694.4(PKHD1):c.11092C>T (p.Gln3698Ter)
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NM_138694.4(PKHD1):c.11395A>T (p.Lys3799Ter)
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NM_138694.4(PKHD1):c.1216del (p.Glu406fs)
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NM_138694.4(PKHD1):c.1272G>A (p.Trp424Ter)
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NM_138694.4(PKHD1):c.1597_1598insG (p.His533fs)
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NM_138694.4(PKHD1):c.1625T>A (p.Leu542Ter)
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NM_138694.4(PKHD1):c.1660_1661insA (p.Ser554fs)
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NM_138694.4(PKHD1):c.1728del (p.Ser577fs)
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NM_138694.4(PKHD1):c.179_182delinsGACGT (p.Ile60fs)
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NM_138694.4(PKHD1):c.1846_1848delinsT (p.Ala616fs)
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NM_138694.4(PKHD1):c.1867A>T (p.Lys623Ter)
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NM_138694.4(PKHD1):c.1910del (p.Asn637fs)
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NM_138694.4(PKHD1):c.2172del (p.Gly726fs)
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rs1806601043
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NM_138694.4(PKHD1):c.2474_2475insTGGC (p.Ser826fs)
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NM_138694.4(PKHD1):c.2503_2504del (p.Thr835fs)
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NM_138694.4(PKHD1):c.2850del (p.Thr951fs)
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NM_138694.4(PKHD1):c.2887C>T (p.Gln963Ter)
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NM_138694.4(PKHD1):c.2916_2917insTGCCGTCTTCTGC (p.Val973fs)
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NM_138694.4(PKHD1):c.2941_2943delinsCT (p.Val981fs)
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NM_138694.4(PKHD1):c.2998A>T (p.Arg1000Ter)
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NM_138694.4(PKHD1):c.304G>T (p.Glu102Ter)
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NM_138694.4(PKHD1):c.3079del (p.Ser1027fs)
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NM_138694.4(PKHD1):c.3082A>T (p.Arg1028Ter)
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NM_138694.4(PKHD1):c.3140_3141del (p.Val1047fs)
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NM_138694.4(PKHD1):c.3165C>G (p.Tyr1055Ter)
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NM_138694.4(PKHD1):c.3369_3370del (p.Glu1124fs)
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NM_138694.4(PKHD1):c.3404_3413del (p.Asn1135fs)
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NM_138694.4(PKHD1):c.3497del (p.Pro1166fs)
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NM_138694.4(PKHD1):c.349del (p.Ser117fs)
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NM_138694.4(PKHD1):c.3582C>A (p.Tyr1194Ter)
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NM_138694.4(PKHD1):c.3726_3727del (p.Leu1242fs)
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NM_138694.4(PKHD1):c.3743G>A (p.Trp1248Ter)
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NM_138694.4(PKHD1):c.3752_3753insTT (p.Leu1252fs)
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NM_138694.4(PKHD1):c.3761_3762delinsG (p.Ala1254fs)
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rs398124484
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NM_138694.4(PKHD1):c.3886_3887del (p.Glu1296fs)
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NM_138694.4(PKHD1):c.3932_3933del (p.Thr1311fs)
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NM_138694.4(PKHD1):c.3946_3947del (p.Ser1316fs)
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NM_138694.4(PKHD1):c.4002_4003del (p.Asn1335fs)
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NM_138694.4(PKHD1):c.4017_4018del (p.Glu1339fs)
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NM_138694.4(PKHD1):c.4155del (p.Phe1385fs)
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NM_138694.4(PKHD1):c.4293T>A (p.Cys1431Ter)
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NM_138694.4(PKHD1):c.4347_4348del (p.Asp1450fs)
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NM_138694.4(PKHD1):c.4361del (p.Gly1454fs)
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NM_138694.4(PKHD1):c.4414_4418del (p.Cys1472fs)
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NM_138694.4(PKHD1):c.4428C>A (p.Cys1476Ter)
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NM_138694.4(PKHD1):c.453del (p.Lys151fs)
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NM_138694.4(PKHD1):c.4643_4644del (p.His1548fs)
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NM_138694.4(PKHD1):c.4677T>A (p.Tyr1559Ter)
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NM_138694.4(PKHD1):c.4698del (p.Arg1567fs)
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NM_138694.4(PKHD1):c.5081_5094del (p.Gly1694fs)
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NM_138694.4(PKHD1):c.5115_5116insTATAAGAGACA (p.Val1706fs)
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NM_138694.4(PKHD1):c.5116_5117insCATTTCTTATT (p.Val1706fs)
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NM_138694.4(PKHD1):c.514_515delinsT (p.Glu172fs)
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NM_138694.4(PKHD1):c.519C>A (p.Tyr173Ter)
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NM_138694.4(PKHD1):c.5204delinsTGTCTT (p.Arg1735fs)
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NM_138694.4(PKHD1):c.5249del (p.Gly1750fs)
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NM_138694.4(PKHD1):c.5355_5356del (p.Phe1785fs)
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NM_138694.4(PKHD1):c.5663_5666del (p.Thr1888fs)
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NM_138694.4(PKHD1):c.5738del (p.Gly1913fs)
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NM_138694.4(PKHD1):c.5792del (p.Thr1931fs)
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NM_138694.4(PKHD1):c.5808_5809del (p.Glu1937fs)
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NM_138694.4(PKHD1):c.5965dup (p.Leu1989fs)
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NM_138694.4(PKHD1):c.6007_6008insGTGTGATCTG (p.Lys2003delinsSerValIleTer)
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NM_138694.4(PKHD1):c.6104del (p.Gly2035fs)
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rs2127768101
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NM_138694.4(PKHD1):c.6125del (p.Ser2042fs)
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NM_138694.4(PKHD1):c.6147delinsAGATGTGTATAAGAGCAG (p.Cys2050fs)
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NM_138694.4(PKHD1):c.6187del (p.Ala2063fs)
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NM_138694.4(PKHD1):c.6284_6285insAGATG (p.Val2096fs)
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NM_138694.4(PKHD1):c.6319_6321delinsT (p.Lys2107fs)
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NM_138694.4(PKHD1):c.6395_6396del (p.Val2132fs)
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NM_138694.4(PKHD1):c.6603del (p.Lys2202fs)
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NM_138694.4(PKHD1):c.6617_6620delinsATAAAGACAGT (p.Phe2206fs)
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NM_138694.4(PKHD1):c.6619_6620del (p.Gln2207fs)
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NM_138694.4(PKHD1):c.661del (p.Tyr221fs)
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NM_138694.4(PKHD1):c.6776del (p.Phe2259fs)
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NM_138694.4(PKHD1):c.703_704insATAAA (p.Gly235fs)
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NM_138694.4(PKHD1):c.7060_7061del (p.Gln2354fs)
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NM_138694.4(PKHD1):c.7081_7082del (p.Thr2361fs)
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NM_138694.4(PKHD1):c.7159_7160del (p.Thr2387fs)
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NM_138694.4(PKHD1):c.7218delinsGTGTATAAGAGACAG (p.Ile2406fs)
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NM_138694.4(PKHD1):c.7251_7252delinsT (p.Val2419fs)
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NM_138694.4(PKHD1):c.7311delinsTT (p.Val2438fs)
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NM_138694.4(PKHD1):c.7325T>A (p.Leu2442Ter)
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NM_138694.4(PKHD1):c.7328T>A (p.Leu2443Ter)
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NM_138694.4(PKHD1):c.7348A>T (p.Lys2450Ter)
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NM_138694.4(PKHD1):c.7378A>T (p.Lys2460Ter)
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NM_138694.4(PKHD1):c.7393_7404delinsGACA (p.Trp2465fs)
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NM_138694.4(PKHD1):c.7512_7522del (p.Gln2504fs)
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NM_138694.4(PKHD1):c.7531_7532del (p.Ser2511fs)
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NM_138694.4(PKHD1):c.7591_7592del (p.Leu2531fs)
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NM_138694.4(PKHD1):c.7608_7609insGACCCATCCA (p.Ser2537fs)
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NM_138694.4(PKHD1):c.7680_7681del (p.His2561fs)
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NM_138694.4(PKHD1):c.776C>G (p.Ser259Ter)
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NM_138694.4(PKHD1):c.8028del (p.Pro2677fs)
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NM_138694.4(PKHD1):c.8089_8090del (p.Arg2697fs)
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NM_138694.4(PKHD1):c.8241del (p.Gly2748fs)
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NM_138694.4(PKHD1):c.8641A>T (p.Arg2881Ter)
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NM_138694.4(PKHD1):c.8846_8847del (p.Glu2949fs)
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NM_138694.4(PKHD1):c.8926A>T (p.Lys2976Ter)
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NM_138694.4(PKHD1):c.8948C>A (p.Ser2983Ter)
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NM_138694.4(PKHD1):c.8987dup (p.Gly2997fs)
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NM_138694.4(PKHD1):c.9171del (p.Tyr3058fs)
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NM_138694.4(PKHD1):c.9540_9543delinsTTT (p.Leu3180fs)
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NM_138694.4(PKHD1):c.9600del (p.Arg3201fs)
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NM_138694.4(PKHD1):c.9656_9657del (p.Val3219fs)
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NM_138694.4(PKHD1):c.9834del (p.Thr3279fs)
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