Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.52044951_52044964delinsCCCATTCACTCTCACA1628629445PKHD1c.2715+2_2715+15delinsTGAGAGTGAATGGG (n.2715+2_2715+15delinsTGAGAGTGAATGGG)
c.2004+2_2004+15delinsTGAGAGTGAATGGG (n.2004+2_2004+15delinsTGAGAGTGAATGGG)
c.2640+2_2640+15delinsTGAGAGTGAATGGG (n.2640+2_2640+15delinsTGAGAGTGAATGGG)
c.855+2_855+15delinsTGAGAGTGAATGGG (n.855+2_855+15delinsTGAGAGTGAATGGG)
n.2991+2_2991+15delinsTGAGAGTGAATGGG
6g.52044954_52044966delCA16041065PKHD1c.2715+2_2715+14del
c.2004+2_2004+14del
c.2640+2_2640+14del
c.855+2_855+14del
n.2991+2_2991+14del
 ClinVar dbSNP
6g.52044963C=CA1628629485PKHD1c.2715+3G= (n.2715+3G=)
c.2004+3G= (n.2004+3G=)
c.2640+3G= (n.2640+3G=)
c.855+3G= (n.855+3G=)
n.2991+3G=
6g.52044963C>TCA3853143PKHD1c.2715+3G>A (n.2715+3G>A)
c.2004+3G>A (n.2004+3G>A)
c.2640+3G>A (n.2640+3G>A)
c.855+3G>A (n.855+3G>A)
n.2991+3G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.52044964delCA2578645571PKHD1c.2715+2del (n.2715+2del)
c.2004+2del (n.2004+2del)
c.2640+2del (n.2640+2del)
c.855+2del (n.855+2del)
n.2991+2del
6g.52044964A>CCA364442738PKHD1c.2715+2T>G (n.2715+2T>G)
c.2004+2T>G (n.2004+2T>G)
c.2640+2T>G (n.2640+2T>G)
c.855+2T>G (n.855+2T>G)
n.2991+2T>G
6g.52044964A>GCA364442739PKHD1c.2715+2T>C (n.2715+2T>C)
c.2004+2T>C (n.2004+2T>C)
c.2640+2T>C (n.2640+2T>C)
c.855+2T>C (n.855+2T>C)
n.2991+2T>C
6g.52044964A>TCA364442740PKHD1c.2715+2T>A (n.2715+2T>A)
c.2004+2T>A (n.2004+2T>A)
c.2640+2T>A (n.2640+2T>A)
c.855+2T>A (n.855+2T>A)
n.2991+2T>A
6g.52044965C>ACA364442742PKHD1c.2715+1G>T (n.2715+1G>T)
c.2004+1G>T (n.2004+1G>T)
c.2640+1G>T (n.2640+1G>T)
c.855+1G>T (n.855+1G>T)
n.2991+1G>T
 ClinVar
6g.52044965C=CA1628629491PKHD1c.2715+1G= (n.2715+1G=)
c.2004+1G= (n.2004+1G=)
c.2640+1G= (n.2640+1G=)
c.855+1G= (n.855+1G=)
n.2991+1G=
6g.52044965C>GCA364442743PKHD1c.2715+1G>C (n.2715+1G>C)
c.2004+1G>C (n.2004+1G>C)
c.2640+1G>C (n.2640+1G>C)
c.855+1G>C (n.855+1G>C)
n.2991+1G>C
 ClinVar dbSNP
6g.52044965C>TCA364442741PKHD1c.2715+1G>A (n.2715+1G>A)
c.2004+1G>A (n.2004+1G>A)
c.2640+1G>A (n.2640+1G>A)
c.855+1G>A (n.855+1G>A)
n.2991+1G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.52044966C>ACA364442745PKHD1c.2715G>T (p.Gln905His)
c.2004G>T (p.Gln668His)
c.2640G>T (p.Gln880His)
c.855G>T (p.Gln285His)
n.2991G>T
6g.52044966C>GCA364442744PKHD1c.2715G>C (p.Gln905His)
c.2004G>C (p.Gln668His)
c.2640G>C (p.Gln880His)
c.855G>C (p.Gln285His)
n.2991G>C
6g.52044966C>TCA450420380PKHD1c.2715G>A (p.Gln905=)
c.2004G>A (p.Gln668=)
c.2640G>A (p.Gln880=)
c.855G>A (p.Gln285=)
n.2991G>A
 gnomAD v4
6g.52044967T>ACA364442748PKHD1c.2714A>T (p.Gln905Leu)
c.2003A>T (p.Gln668Leu)
c.2639A>T (p.Gln880Leu)
c.854A>T (p.Gln285Leu)
n.2990A>T
6g.52044967T>CCA364442746PKHD1c.2714A>G (p.Gln905Arg)
c.2003A>G (p.Gln668Arg)
c.2639A>G (p.Gln880Arg)
c.854A>G (p.Gln285Arg)
n.2990A>G
 gnomAD v4
6g.52044967T>GCA364442747PKHD1c.2714A>C (p.Gln905Pro)
c.2003A>C (p.Gln668Pro)
c.2639A>C (p.Gln880Pro)
c.854A>C (p.Gln285Pro)
n.2990A>C
6g.52044968G>ACA364442749PKHD1c.2713C>T (p.Gln905Ter)
c.2002C>T (p.Gln668Ter)
c.2638C>T (p.Gln880Ter)
c.853C>T (p.Gln285Ter)
n.2989C>T
 ClinVar dbSNP COSMIC COSMIC
6g.52044968G>CCA364442750PKHD1c.2713C>G (p.Gln905Glu)
c.2002C>G (p.Gln668Glu)
c.2638C>G (p.Gln880Glu)
c.853C>G (p.Gln285Glu)
n.2989C>G
 gnomAD v4
6g.52044968G=CA1628629504PKHD1c.2713C= (p.Gln905=)
c.2002C= (p.Gln668=)
c.2638C= (p.Gln880=)
c.853C= (p.Gln285=)
n.2989C=
6g.52044968G>TCA364442751PKHD1c.2713C>A (p.Gln905Lys)
c.2002C>A (p.Gln668Lys)
c.2638C>A (p.Gln880Lys)
c.853C>A (p.Gln285Lys)
n.2989C>A
6g.52044969A>CCA450420385PKHD1c.2712T>G (p.Thr904=)
c.2001T>G (p.Thr667=)
c.2637T>G (p.Thr879=)
c.852T>G (p.Thr284=)
n.2988T>G
6g.52044969A>GCA450420384PKHD1c.2712T>C (p.Thr904=)
c.2001T>C (p.Thr667=)
c.2637T>C (p.Thr879=)
c.852T>C (p.Thr284=)
n.2988T>C
6g.52044969A>TCA450420383PKHD1c.2712T>A (p.Thr904=)
c.2001T>A (p.Thr667=)
c.2637T>A (p.Thr879=)
c.852T>A (p.Thr284=)
n.2988T>A
6g.52044970G>ACA364442752PKHD1c.2711C>T (p.Thr904Ile)
c.2000C>T (p.Thr667Ile)
c.2636C>T (p.Thr879Ile)
c.851C>T (p.Thr284Ile)
n.2987C>T
6g.52044970G>CCA364442753PKHD1c.2711C>G (p.Thr904Ser)
c.2000C>G (p.Thr667Ser)
c.2636C>G (p.Thr879Ser)
c.851C>G (p.Thr284Ser)
n.2987C>G
6g.52044970G>TCA364442754PKHD1c.2711C>A (p.Thr904Asn)
c.2000C>A (p.Thr667Asn)
c.2636C>A (p.Thr879Asn)
c.851C>A (p.Thr284Asn)
n.2987C>A
6g.52044971T>ACA364442755PKHD1c.2710A>T (p.Thr904Ser)
c.1999A>T (p.Thr667Ser)
c.2635A>T (p.Thr879Ser)
c.850A>T (p.Thr284Ser)
n.2986A>T
6g.52044971T>CCA364442756PKHD1c.2710A>G (p.Thr904Ala)
c.1999A>G (p.Thr667Ala)
c.2635A>G (p.Thr879Ala)
c.850A>G (p.Thr284Ala)
n.2986A>G
 gnomAD v4
6g.52044971T>GCA364442757PKHD1c.2710A>C (p.Thr904Pro)
c.1999A>C (p.Thr667Pro)
c.2635A>C (p.Thr879Pro)
c.850A>C (p.Thr284Pro)
n.2986A>C
6g.52044971_52044987delinsTATGCTGGTTGGCAGTACA1628629509PKHD1c.2694_2710delinsTACTGCCAACCAGCATA (p.Ala898=)
c.1983_1999delinsTACTGCCAACCAGCATA (p.Ala661=)
c.2619_2635delinsTACTGCCAACCAGCATA (p.Ala873=)
c.834_850delinsTACTGCCAACCAGCATA (p.Ala278=)
n.2970_2986delinsTACTGCCAACCAGCATA
6g.52044972A>CCA364442758PKHD1c.2709T>G (p.His903Gln)
c.1998T>G (p.His666Gln)
c.2634T>G (p.His878Gln)
c.849T>G (p.His283Gln)
n.2985T>G
6g.52044972A>GCA450420387PKHD1c.2709T>C (p.His903=)
c.1998T>C (p.His666=)
c.2634T>C (p.His878=)
c.849T>C (p.His283=)
n.2985T>C
 ClinVar dbSNP
6g.52044972A>TCA364442759PKHD1c.2709T>A (p.His903Gln)
c.1998T>A (p.His666Gln)
c.2634T>A (p.His878Gln)
c.849T>A (p.His283Gln)
n.2985T>A
6g.52044972_52044987delCA1628629514PKHD1c.2694_2709del (p.Thr899LeufsTer7)
c.1983_1998del (p.Thr662LeufsTer7)
c.2619_2634del (p.Thr874LeufsTer7)
c.834_849del (p.Thr279LeufsTer7)
n.2970_2985del
 dbSNP
6g.52044973T>ACA364442762PKHD1c.2708A>T (p.His903Leu)
c.1997A>T (p.His666Leu)
c.2633A>T (p.His878Leu)
c.848A>T (p.His283Leu)
n.2984A>T
6g.52044973T>CCA364442760PKHD1c.2708A>G (p.His903Arg)
c.1997A>G (p.His666Arg)
c.2633A>G (p.His878Arg)
c.848A>G (p.His283Arg)
n.2984A>G
 dbSNP
6g.52044973T>GCA364442761PKHD1c.2708A>C (p.His903Pro)
c.1997A>C (p.His666Pro)
c.2633A>C (p.His878Pro)
c.848A>C (p.His283Pro)
n.2984A>C
6g.52044973T=CA1628629517PKHD1c.2708A= (p.His903=)
c.1997A= (p.His666=)
c.2633A= (p.His878=)
c.848A= (p.His283=)
n.2984A=
6g.52044974G>ACA364442763PKHD1c.2707C>T (p.His903Tyr)
c.1996C>T (p.His666Tyr)
c.2632C>T (p.His878Tyr)
c.847C>T (p.His283Tyr)
n.2983C>T
6g.52044974G>CCA364442764PKHD1c.2707C>G (p.His903Asp)
c.1996C>G (p.His666Asp)
c.2632C>G (p.His878Asp)
c.847C>G (p.His283Asp)
n.2983C>G
6g.52044974G=CA1628629523PKHD1c.2707C= (p.His903=)
c.1996C= (p.His666=)
c.2632C= (p.His878=)
c.847C= (p.His283=)
n.2983C=
6g.52044974G>TCA3853144PKHD1c.2707C>A (p.His903Asn)
c.1996C>A (p.His666Asn)
c.2632C>A (p.His878Asn)
c.847C>A (p.His283Asn)
n.2983C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52044975C>ACA364442765PKHD1c.2706G>T (p.Gln902His)
c.1995G>T (p.Gln665His)
c.2631G>T (p.Gln877His)
c.846G>T (p.Gln282His)
n.2982G>T
6g.52044975C=CA1628629528PKHD1c.2706G= (p.Gln902=)
c.1995G= (p.Gln665=)
c.2631G= (p.Gln877=)
c.846G= (p.Gln282=)
n.2982G=
6g.52044975C>GCA138963423PKHD1c.2706G>C (p.Gln902His)
c.1995G>C (p.Gln665His)
c.2631G>C (p.Gln877His)
c.846G>C (p.Gln282His)
n.2982G>C
 dbSNP gnomAD v3 gnomAD v4
6g.52044975C>TCA450420391PKHD1c.2706G>A (p.Gln902=)
c.1995G>A (p.Gln665=)
c.2631G>A (p.Gln877=)
c.846G>A (p.Gln282=)
n.2982G>A
6g.52044976T>ACA364442766PKHD1c.2705A>T (p.Gln902Leu)
c.1994A>T (p.Gln665Leu)
c.2630A>T (p.Gln877Leu)
c.845A>T (p.Gln282Leu)
n.2981A>T
6g.52044976T>CCA364442767PKHD1c.2705A>G (p.Gln902Arg)
c.1994A>G (p.Gln665Arg)
c.2630A>G (p.Gln877Arg)
c.845A>G (p.Gln282Arg)
n.2981A>G
 gnomAD v4
6g.52044976T>GCA364442768PKHD1c.2705A>C (p.Gln902Pro)
c.1994A>C (p.Gln665Pro)
c.2630A>C (p.Gln877Pro)
c.845A>C (p.Gln282Pro)
n.2981A>C
6g.52044977G>ACA364442769PKHD1c.2704C>T (p.Gln902Ter)
c.1993C>T (p.Gln665Ter)
c.2629C>T (p.Gln877Ter)
c.844C>T (p.Gln282Ter)
n.2980C>T
6g.52044977G>CCA364442770PKHD1c.2704C>G (p.Gln902Glu)
c.1993C>G (p.Gln665Glu)
c.2629C>G (p.Gln877Glu)
c.844C>G (p.Gln282Glu)
n.2980C>G
6g.52044977G>TCA364442771PKHD1c.2704C>A (p.Gln902Lys)
c.1993C>A (p.Gln665Lys)
c.2629C>A (p.Gln877Lys)
c.844C>A (p.Gln282Lys)
n.2980C>A
6g.52044977_52044978delinsTTCA645567084PKHD1c.2703_2704delinsAA (p.Asn901_Gln902delinsLysLys)
c.1992_1993delinsAA (p.Asn664_Gln665delinsLysLys)
c.2628_2629delinsAA (p.Asn876_Gln877delinsLysLys)
c.843_844delinsAA (p.Asn281_Gln282delinsLysLys)
n.2979_2980delinsAA
 COSMIC COSMIC
6g.52044978G>ACA3853145PKHD1c.2703C>T (p.Asn901=)
c.1992C>T (p.Asn664=)
c.2628C>T (p.Asn876=)
c.843C>T (p.Asn281=)
n.2979C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52044978G>CCA364442773PKHD1c.2703C>G (p.Asn901Lys)
c.1992C>G (p.Asn664Lys)
c.2628C>G (p.Asn876Lys)
c.843C>G (p.Asn281Lys)
n.2979C>G
6g.52044978G=CA1628629534PKHD1c.2703C= (p.Asn901=)
c.1992C= (p.Asn664=)
c.2628C= (p.Asn876=)
c.843C= (p.Asn281=)
n.2979C=
6g.52044978G>TCA364442772PKHD1c.2703C>A (p.Asn901Lys)
c.1992C>A (p.Asn664Lys)
c.2628C>A (p.Asn876Lys)
c.843C>A (p.Asn281Lys)
n.2979C>A
6g.52044979T>ACA364442774PKHD1c.2702A>T (p.Asn901Ile)
c.1991A>T (p.Asn664Ile)
c.2627A>T (p.Asn876Ile)
c.842A>T (p.Asn281Ile)
n.2978A>T
6g.52044979T>CCA364442775PKHD1c.2702A>G (p.Asn901Ser)
c.1991A>G (p.Asn664Ser)
c.2627A>G (p.Asn876Ser)
c.842A>G (p.Asn281Ser)
n.2978A>G
6g.52044979T>GCA3853146PKHD1c.2702A>C (p.Asn901Thr)
c.1991A>C (p.Asn664Thr)
c.2627A>C (p.Asn876Thr)
c.842A>C (p.Asn281Thr)
n.2978A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52044979T=CA1628629545PKHD1c.2702A= (p.Asn901=)
c.1991A= (p.Asn664=)
c.2627A= (p.Asn876=)
c.842A= (p.Asn281=)
n.2978A=
6g.52044980T>ACA364442776PKHD1c.2701A>T (p.Asn901Tyr)
c.1990A>T (p.Asn664Tyr)
c.2626A>T (p.Asn876Tyr)
c.841A>T (p.Asn281Tyr)
n.2977A>T
6g.52044980T>CCA3853147PKHD1c.2701A>G (p.Asn901Asp)
c.1990A>G (p.Asn664Asp)
c.2626A>G (p.Asn876Asp)
c.841A>G (p.Asn281Asp)
n.2977A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.52044980T>GCA364442777PKHD1c.2701A>C (p.Asn901His)
c.1990A>C (p.Asn664His)
c.2626A>C (p.Asn876His)
c.841A>C (p.Asn281His)
n.2977A>C
6g.52044980T=CA1628629552PKHD1c.2701A= (p.Asn901=)
c.1990A= (p.Asn664=)
c.2626A= (p.Asn876=)
c.841A= (p.Asn281=)
n.2977A=
6g.52044981G>ACA450420394PKHD1c.2700C>T (p.Ala900=)
c.1989C>T (p.Ala663=)
c.2625C>T (p.Ala875=)
c.840C>T (p.Ala280=)
n.2976C>T
6g.52044981G>CCA450420395PKHD1c.2700C>G (p.Ala900=)
c.1989C>G (p.Ala663=)
c.2625C>G (p.Ala875=)
c.840C>G (p.Ala280=)
n.2976C>G
6g.52044981G>TCA450420396PKHD1c.2700C>A (p.Ala900=)
c.1989C>A (p.Ala663=)
c.2625C>A (p.Ala875=)
c.840C>A (p.Ala280=)
n.2976C>A
6g.52044982G>ACA364442778PKHD1c.2699C>T (p.Ala900Val)
c.1988C>T (p.Ala663Val)
c.2624C>T (p.Ala875Val)
c.839C>T (p.Ala280Val)
n.2975C>T
6g.52044982G>CCA364442779PKHD1c.2699C>G (p.Ala900Gly)
c.1988C>G (p.Ala663Gly)
c.2624C>G (p.Ala875Gly)
c.839C>G (p.Ala280Gly)
n.2975C>G
 gnomAD v4
6g.52044982G>TCA364442780PKHD1c.2699C>A (p.Ala900Asp)
c.1988C>A (p.Ala663Asp)
c.2624C>A (p.Ala875Asp)
c.839C>A (p.Ala280Asp)
n.2975C>A
6g.52044983C>ACA364442781PKHD1c.2698G>T (p.Ala900Ser)
c.1987G>T (p.Ala663Ser)
c.2623G>T (p.Ala875Ser)
c.838G>T (p.Ala280Ser)
n.2974G>T
 gnomAD v4
6g.52044983C>GCA364442782PKHD1c.2698G>C (p.Ala900Pro)
c.1987G>C (p.Ala663Pro)
c.2623G>C (p.Ala875Pro)
c.838G>C (p.Ala280Pro)
n.2974G>C
6g.52044983C>TCA364442783PKHD1c.2698G>A (p.Ala900Thr)
c.1987G>A (p.Ala663Thr)
c.2623G>A (p.Ala875Thr)
c.838G>A (p.Ala280Thr)
n.2974G>A
 gnomAD v4
6g.52044984delCA2679083384PKHD1c.2697del (p.Ala900ProfsTer11)
c.1986del (p.Ala663ProfsTer11)
c.2622del (p.Ala875ProfsTer11)
c.837del (p.Ala280ProfsTer11)
n.2973del
 gnomAD v4
6g.52044984A=CA1628629558PKHD1c.2697T= (p.Thr899=)
c.1986T= (p.Thr662=)
c.2622T= (p.Thr874=)
c.837T= (p.Thr279=)
n.2973T=
6g.52044984A>CCA450420400PKHD1c.2697T>G (p.Thr899=)
c.1986T>G (p.Thr662=)
c.2622T>G (p.Thr874=)
c.837T>G (p.Thr279=)
n.2973T>G
6g.52044984A>GCA450420401PKHD1c.2697T>C (p.Thr899=)
c.1986T>C (p.Thr662=)
c.2622T>C (p.Thr874=)
c.837T>C (p.Thr279=)
n.2973T>C
6g.52044984A>TCA450420402PKHD1c.2697T>A (p.Thr899=)
c.1986T>A (p.Thr662=)
c.2622T>A (p.Thr874=)
c.837T>A (p.Thr279=)
n.2973T>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.52044984_52044993delinsAGTAGCCAACCA1628629562PKHD1c.2688_2697delinsGTTGGCTACT (p.Met896=)
c.1977_1986delinsGTTGGCTACT (p.Met659=)
c.2613_2622delinsGTTGGCTACT (p.Met871=)
c.828_837delinsGTTGGCTACT (p.Met276=)
n.2964_2973delinsGTTGGCTACT
6g.52044985G>ACA364442785PKHD1c.2696C>T (p.Thr899Ile)
c.1985C>T (p.Thr662Ile)
c.2621C>T (p.Thr874Ile)
c.836C>T (p.Thr279Ile)
n.2972C>T
 dbSNP gnomAD v2 gnomAD v4
6g.52044985G>CCA364442786PKHD1c.2696C>G (p.Thr899Ser)
c.1985C>G (p.Thr662Ser)
c.2621C>G (p.Thr874Ser)
c.836C>G (p.Thr279Ser)
n.2972C>G
 gnomAD v4
6g.52044985G=CA1628629576PKHD1c.2696C= (p.Thr899=)
c.1985C= (p.Thr662=)
c.2621C= (p.Thr874=)
c.836C= (p.Thr279=)
n.2972C=
6g.52044985G>TCA364442784PKHD1c.2696C>A (p.Thr899Asn)
c.1985C>A (p.Thr662Asn)
c.2621C>A (p.Thr874Asn)
c.836C>A (p.Thr279Asn)
n.2972C>A
6g.52044985_52044993delinsTCA1139659609PKHD1c.2688_2696delinsA (p.Met896IlefsTer14)
c.1977_1985delinsA (p.Met659IlefsTer14)
c.2613_2621delinsA (p.Met871IlefsTer14)
c.828_836delinsA (p.Met276IlefsTer14)
n.2964_2972delinsA
 ClinVar dbSNP
6g.52044986T>ACA364442787PKHD1c.2695A>T (p.Thr899Ser)
c.1984A>T (p.Thr662Ser)
c.2620A>T (p.Thr874Ser)
c.835A>T (p.Thr279Ser)
n.2971A>T
6g.52044986T>CCA138963424PKHD1c.2695A>G (p.Thr899Ala)
c.1984A>G (p.Thr662Ala)
c.2620A>G (p.Thr874Ala)
c.835A>G (p.Thr279Ala)
n.2971A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.52044986T>GCA364442788PKHD1c.2695A>C (p.Thr899Pro)
c.1984A>C (p.Thr662Pro)
c.2620A>C (p.Thr874Pro)
c.835A>C (p.Thr279Pro)
n.2971A>C
 dbSNP gnomAD v3 gnomAD v4
6g.52044986T=CA1628629588PKHD1c.2695A= (p.Thr899=)
c.1984A= (p.Thr662=)
c.2620A= (p.Thr874=)
c.835A= (p.Thr279=)
n.2971A=
6g.52044987A>CCA450420403PKHD1c.2694T>G (p.Ala898=)
c.1983T>G (p.Ala661=)
c.2619T>G (p.Ala873=)
c.834T>G (p.Ala278=)
n.2970T>G
6g.52044987A>GCA450420404PKHD1c.2694T>C (p.Ala898=)
c.1983T>C (p.Ala661=)
c.2619T>C (p.Ala873=)
c.834T>C (p.Ala278=)
n.2970T>C
 ClinVar
6g.52044987A>TCA450420405PKHD1c.2694T>A (p.Ala898=)
c.1983T>A (p.Ala661=)
c.2619T>A (p.Ala873=)
c.834T>A (p.Ala278=)
n.2970T>A
6g.52044988G>ACA364442789PKHD1c.2693C>T (p.Ala898Val)
c.1982C>T (p.Ala661Val)
c.2618C>T (p.Ala873Val)
c.833C>T (p.Ala278Val)
n.2969C>T
6g.52044988G>CCA364442790PKHD1c.2693C>G (p.Ala898Gly)
c.1982C>G (p.Ala661Gly)
c.2618C>G (p.Ala873Gly)
c.833C>G (p.Ala278Gly)
n.2969C>G
6g.52044988G>TCA364442791PKHD1c.2693C>A (p.Ala898Asp)
c.1982C>A (p.Ala661Asp)
c.2618C>A (p.Ala873Asp)
c.833C>A (p.Ala278Asp)
n.2969C>A
6g.52044989C>ACA364442792PKHD1c.2692G>T (p.Ala898Ser)
c.1981G>T (p.Ala661Ser)
c.2617G>T (p.Ala873Ser)
c.832G>T (p.Ala278Ser)
n.2968G>T
6g.52044989C>GCA364442794PKHD1c.2692G>C (p.Ala898Pro)
c.1981G>C (p.Ala661Pro)
c.2617G>C (p.Ala873Pro)
c.832G>C (p.Ala278Pro)
n.2968G>C
6g.52044989C>TCA364442793PKHD1c.2692G>A (p.Ala898Thr)
c.1981G>A (p.Ala661Thr)
c.2617G>A (p.Ala873Thr)
c.832G>A (p.Ala278Thr)
n.2968G>A
6g.52044990C>ACA364442795PKHD1c.2691G>T (p.Leu897Phe)
c.1980G>T (p.Leu660Phe)
c.2616G>T (p.Leu872Phe)
c.831G>T (p.Leu277Phe)
n.2967G>T
6g.52044990C=CA1628629598PKHD1c.2691G= (p.Leu897=)
c.1980G= (p.Leu660=)
c.2616G= (p.Leu872=)
c.831G= (p.Leu277=)
n.2967G=
6g.52044990C>GCA364442796PKHD1c.2691G>C (p.Leu897Phe)
c.1980G>C (p.Leu660Phe)
c.2616G>C (p.Leu872Phe)
c.831G>C (p.Leu277Phe)
n.2967G>C
6g.52044990C>TCA450420406PKHD1c.2691G>A (p.Leu897=)
c.1980G>A (p.Leu660=)
c.2616G>A (p.Leu872=)
c.831G>A (p.Leu277=)
n.2967G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.52044991A>CCA364442797PKHD1c.2690T>G (p.Leu897Trp)
c.1979T>G (p.Leu660Trp)
c.2615T>G (p.Leu872Trp)
c.830T>G (p.Leu277Trp)
n.2966T>G
6g.52044991A>GCA364442798PKHD1c.2690T>C (p.Leu897Ser)
c.1979T>C (p.Leu660Ser)
c.2615T>C (p.Leu872Ser)
c.830T>C (p.Leu277Ser)
n.2966T>C
6g.52044991A>TCA364442799PKHD1c.2690T>A (p.Leu897Ter)
c.1979T>A (p.Leu660Ter)
c.2615T>A (p.Leu872Ter)
c.830T>A (p.Leu277Ter)
n.2966T>A
6g.52044992A>CCA364442801PKHD1c.2689T>G (p.Leu897Val)
c.1978T>G (p.Leu660Val)
c.2614T>G (p.Leu872Val)
c.829T>G (p.Leu277Val)
n.2965T>G
6g.52044992A>GCA450420408PKHD1c.2689T>C (p.Leu897=)
c.1978T>C (p.Leu660=)
c.2614T>C (p.Leu872=)
c.829T>C (p.Leu277=)
n.2965T>C
 gnomAD v4
6g.52044992A>TCA364442800PKHD1c.2689T>A (p.Leu897Met)
c.1978T>A (p.Leu660Met)
c.2614T>A (p.Leu872Met)
c.829T>A (p.Leu277Met)
n.2965T>A
6g.52044993C>ACA364442802PKHD1c.2688G>T (p.Met896Ile)
c.1977G>T (p.Met659Ile)
c.2613G>T (p.Met871Ile)
c.828G>T (p.Met276Ile)
n.2964G>T
6g.52044993C>GCA364442804PKHD1c.2688G>C (p.Met896Ile)
c.1977G>C (p.Met659Ile)
c.2613G>C (p.Met871Ile)
c.828G>C (p.Met276Ile)
n.2964G>C
6g.52044993C>TCA364442803PKHD1c.2688G>A (p.Met896Ile)
c.1977G>A (p.Met659Ile)
c.2613G>A (p.Met871Ile)
c.828G>A (p.Met276Ile)
n.2964G>A
6g.52044994A>CCA364442805PKHD1c.2687T>G (p.Met896Arg)
c.1976T>G (p.Met659Arg)
c.2612T>G (p.Met871Arg)
c.827T>G (p.Met276Arg)
n.2963T>G
6g.52044994A>GCA364442806PKHD1c.2687T>C (p.Met896Thr)
c.1976T>C (p.Met659Thr)
c.2612T>C (p.Met871Thr)
c.827T>C (p.Met276Thr)
n.2963T>C
6g.52044994A>TCA364442807PKHD1c.2687T>A (p.Met896Lys)
c.1976T>A (p.Met659Lys)
c.2612T>A (p.Met871Lys)
c.827T>A (p.Met276Lys)
n.2963T>A
6g.52044995T>ACA3853148PKHD1c.2686A>T (p.Met896Leu)
c.1975A>T (p.Met659Leu)
c.2611A>T (p.Met871Leu)
c.826A>T (p.Met276Leu)
n.2962A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.52044995T>CCA364442808PKHD1c.2686A>G (p.Met896Val)
c.1975A>G (p.Met659Val)
c.2611A>G (p.Met871Val)
c.826A>G (p.Met276Val)
n.2962A>G
6g.52044995T>GCA364442809PKHD1c.2686A>C (p.Met896Leu)
c.1975A>C (p.Met659Leu)
c.2611A>C (p.Met871Leu)
c.826A>C (p.Met276Leu)
n.2962A>C
6g.52044995T=CA1628629605PKHD1c.2686A= (p.Met896=)
c.1975A= (p.Met659=)
c.2611A= (p.Met871=)
c.826A= (p.Met276=)
n.2962A=
6g.52044996G>ACA450420409PKHD1c.2685C>T (p.Asp895=)
c.1974C>T (p.Asp658=)
c.2610C>T (p.Asp870=)
c.825C>T (p.Asp275=)
n.2961C>T
6g.52044996G>CCA364442811PKHD1c.2685C>G (p.Asp895Glu)
c.1974C>G (p.Asp658Glu)
c.2610C>G (p.Asp870Glu)
c.825C>G (p.Asp275Glu)
n.2961C>G
6g.52044996G>TCA364442810PKHD1c.2685C>A (p.Asp895Glu)
c.1974C>A (p.Asp658Glu)
c.2610C>A (p.Asp870Glu)
c.825C>A (p.Asp275Glu)
n.2961C>A
6g.52044997T>ACA364442812PKHD1c.2684A>T (p.Asp895Val)
c.1973A>T (p.Asp658Val)
c.2609A>T (p.Asp870Val)
c.824A>T (p.Asp275Val)
n.2960A>T
6g.52044997T>CCA364442813PKHD1c.2684A>G (p.Asp895Gly)
c.1973A>G (p.Asp658Gly)
c.2609A>G (p.Asp870Gly)
c.824A>G (p.Asp275Gly)
n.2960A>G
6g.52044997T>GCA364442814PKHD1c.2684A>C (p.Asp895Ala)
c.1973A>C (p.Asp658Ala)
c.2609A>C (p.Asp870Ala)
c.824A>C (p.Asp275Ala)
n.2960A>C
6g.52044998C>ACA364442815PKHD1c.2683G>T (p.Asp895Tyr)
c.1972G>T (p.Asp658Tyr)
c.2608G>T (p.Asp870Tyr)
c.823G>T (p.Asp275Tyr)
n.2959G>T
6g.52044998C=CA1628629607PKHD1c.2683G= (p.Asp895=)
c.1972G= (p.Asp658=)
c.2608G= (p.Asp870=)
c.823G= (p.Asp275=)
n.2959G=
6g.52044998C>GCA364442816PKHD1c.2683G>C (p.Asp895His)
c.1972G>C (p.Asp658His)
c.2608G>C (p.Asp870His)
c.823G>C (p.Asp275His)
n.2959G>C
 dbSNP gnomAD v3 gnomAD v4
6g.52044998C>TCA364442817PKHD1c.2683G>A (p.Asp895Asn)
c.1972G>A (p.Asp658Asn)
c.2608G>A (p.Asp870Asn)
c.823G>A (p.Asp275Asn)
n.2959G>A
6g.52044999T>ACA450420414PKHD1c.2682A>T (p.Gly894=)
c.1971A>T (p.Gly657=)
c.2607A>T (p.Gly869=)
c.822A>T (p.Gly274=)
n.2958A>T
6g.52044999T>CCA450420411PKHD1c.2682A>G (p.Gly894=)
c.1971A>G (p.Gly657=)
c.2607A>G (p.Gly869=)
c.822A>G (p.Gly274=)
n.2958A>G
 gnomAD v4
6g.52044999T>GCA450420412PKHD1c.2682A>C (p.Gly894=)
c.1971A>C (p.Gly657=)
c.2607A>C (p.Gly869=)
c.822A>C (p.Gly274=)
n.2958A>C
6g.52045000C>ACA3853149PKHD1c.2681G>T (p.Gly894Val)
c.1970G>T (p.Gly657Val)
c.2606G>T (p.Gly869Val)
c.821G>T (p.Gly274Val)
n.2957G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52045000C=CA1628629610PKHD1c.2681G= (p.Gly894=)
c.1970G= (p.Gly657=)
c.2606G= (p.Gly869=)
c.821G= (p.Gly274=)
n.2957G=
6g.52045000C>GCA364442819PKHD1c.2681G>C (p.Gly894Ala)
c.1970G>C (p.Gly657Ala)
c.2606G>C (p.Gly869Ala)
c.821G>C (p.Gly274Ala)
n.2957G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.52045000C>TCA364442818PKHD1c.2681G>A (p.Gly894Glu)
c.1970G>A (p.Gly657Glu)
c.2606G>A (p.Gly869Glu)
c.821G>A (p.Gly274Glu)
n.2957G>A
 gnomAD v4
6g.52045001delCA2695198873PKHD1c.2681del (p.Gly894GlufsTer17)
c.1970del (p.Gly657GlufsTer17)
c.2606del (p.Gly869GlufsTer17)
c.821del (p.Gly274GlufsTer17)
n.2957del
 ClinVar
6g.52045001C>ACA364442820PKHD1c.2680G>T (p.Gly894Ter)
c.1969G>T (p.Gly657Ter)
c.2605G>T (p.Gly869Ter)
c.820G>T (p.Gly274Ter)
n.2956G>T
6g.52045001C=CA1628629617PKHD1c.2680G= (p.Gly894=)
c.1969G= (p.Gly657=)
c.2605G= (p.Gly869=)
c.820G= (p.Gly274=)
n.2956G=
6g.52045001C>GCA364442821PKHD1c.2680G>C (p.Gly894Arg)
c.1969G>C (p.Gly657Arg)
c.2605G>C (p.Gly869Arg)
c.820G>C (p.Gly274Arg)
n.2956G>C
6g.52045001C>TCA364442822PKHD1c.2680G>A (p.Gly894Arg)
c.1969G>A (p.Gly657Arg)
c.2605G>A (p.Gly869Arg)
c.820G>A (p.Gly274Arg)
n.2956G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.52045002A=CA1628629624PKHD1c.2679T= (p.Phe893=)
c.1968T= (p.Phe656=)
c.2604T= (p.Phe868=)
c.819T= (p.Phe273=)
n.2955T=
6g.52045002A>CCA364442823PKHD1c.2679T>G (p.Phe893Leu)
c.1968T>G (p.Phe656Leu)
c.2604T>G (p.Phe868Leu)
c.819T>G (p.Phe273Leu)
n.2955T>G
6g.52045002A>GCA450420416PKHD1c.2679T>C (p.Phe893=)
c.1968T>C (p.Phe656=)
c.2604T>C (p.Phe868=)
c.819T>C (p.Phe273=)
n.2955T>C
 ClinVar dbSNP
6g.52045002A>TCA364442824PKHD1c.2679T>A (p.Phe893Leu)
c.1968T>A (p.Phe656Leu)
c.2604T>A (p.Phe868Leu)
c.819T>A (p.Phe273Leu)
n.2955T>A
6g.52045003A>CCA364442825PKHD1c.2678T>G (p.Phe893Cys)
c.1967T>G (p.Phe656Cys)
c.2603T>G (p.Phe868Cys)
c.818T>G (p.Phe273Cys)
n.2954T>G
 gnomAD v4
6g.52045003A>GCA364442826PKHD1c.2678T>C (p.Phe893Ser)
c.1967T>C (p.Phe656Ser)
c.2603T>C (p.Phe868Ser)
c.818T>C (p.Phe273Ser)
n.2954T>C
 gnomAD v4
6g.52045003A>TCA364442827PKHD1c.2678T>A (p.Phe893Tyr)
c.1967T>A (p.Phe656Tyr)
c.2603T>A (p.Phe868Tyr)
c.818T>A (p.Phe273Tyr)
n.2954T>A
6g.52045004A>CCA364442828PKHD1c.2677T>G (p.Phe893Val)
c.1966T>G (p.Phe656Val)
c.2602T>G (p.Phe868Val)
c.817T>G (p.Phe273Val)
n.2953T>G
6g.52045004A>GCA364442829PKHD1c.2677T>C (p.Phe893Leu)
c.1966T>C (p.Phe656Leu)
c.2602T>C (p.Phe868Leu)
c.817T>C (p.Phe273Leu)
n.2953T>C
 gnomAD v4
6g.52045004A>TCA364442830PKHD1c.2677T>A (p.Phe893Ile)
c.1966T>A (p.Phe656Ile)
c.2602T>A (p.Phe868Ile)
c.817T>A (p.Phe273Ile)
n.2953T>A
6g.52045005T>ACA450420421PKHD1c.2676A>T (p.Ile892=)
c.1965A>T (p.Ile655=)
c.2601A>T (p.Ile867=)
c.816A>T (p.Ile272=)
n.2952A>T
6g.52045005T>CCA364442831PKHD1c.2676A>G (p.Ile892Met)
c.1965A>G (p.Ile655Met)
c.2601A>G (p.Ile867Met)
c.816A>G (p.Ile272Met)
n.2952A>G
6g.52045005T>GCA450420420PKHD1c.2676A>C (p.Ile892=)
c.1965A>C (p.Ile655=)
c.2601A>C (p.Ile867=)
c.816A>C (p.Ile272=)
n.2952A>C
6g.52045006A>CCA364442834PKHD1c.2675T>G (p.Ile892Arg)
c.1964T>G (p.Ile655Arg)
c.2600T>G (p.Ile867Arg)
c.815T>G (p.Ile272Arg)
n.2951T>G
6g.52045006A>GCA364442832PKHD1c.2675T>C (p.Ile892Thr)
c.1964T>C (p.Ile655Thr)
c.2600T>C (p.Ile867Thr)
c.815T>C (p.Ile272Thr)
n.2951T>C
 gnomAD v4
6g.52045006A>TCA364442833PKHD1c.2675T>A (p.Ile892Lys)
c.1964T>A (p.Ile655Lys)
c.2600T>A (p.Ile867Lys)
c.815T>A (p.Ile272Lys)
n.2951T>A
6g.52045007T>ACA364442835PKHD1c.2674A>T (p.Ile892Leu)
c.1963A>T (p.Ile655Leu)
c.2599A>T (p.Ile867Leu)
c.814A>T (p.Ile272Leu)
n.2950A>T
6g.52045007T>CCA364442836PKHD1c.2674A>G (p.Ile892Val)
c.1963A>G (p.Ile655Val)
c.2599A>G (p.Ile867Val)
c.814A>G (p.Ile272Val)
n.2950A>G
 dbSNP gnomAD v3 gnomAD v4
6g.52045007T>GCA364442837PKHD1c.2674A>C (p.Ile892Leu)
c.1963A>C (p.Ile655Leu)
c.2599A>C (p.Ile867Leu)
c.814A>C (p.Ile272Leu)
n.2950A>C
6g.52045007T=CA1628629630PKHD1c.2674A= (p.Ile892=)
c.1963A= (p.Ile655=)
c.2599A= (p.Ile867=)
c.814A= (p.Ile272=)
n.2950A=
6g.52045008G>ACA450420425PKHD1c.2673C>T (p.Pro891=)
c.1962C>T (p.Pro654=)
c.2598C>T (p.Pro866=)
c.813C>T (p.Pro271=)
n.2949C>T
6g.52045008G>CCA450420426PKHD1c.2673C>G (p.Pro891=)
c.1962C>G (p.Pro654=)
c.2598C>G (p.Pro866=)
c.813C>G (p.Pro271=)
n.2949C>G
6g.52045008G>TCA450420427PKHD1c.2673C>A (p.Pro891=)
c.1962C>A (p.Pro654=)
c.2598C>A (p.Pro866=)
c.813C>A (p.Pro271=)
n.2949C>A
6g.52045009G>ACA364442838PKHD1c.2672C>T (p.Pro891Leu)
c.1961C>T (p.Pro654Leu)
c.2597C>T (p.Pro866Leu)
c.812C>T (p.Pro271Leu)
n.2948C>T
6g.52045009G>CCA364442839PKHD1c.2672C>G (p.Pro891Arg)
c.1961C>G (p.Pro654Arg)
c.2597C>G (p.Pro866Arg)
c.812C>G (p.Pro271Arg)
n.2948C>G
6g.52045009G>TCA364442840PKHD1c.2672C>A (p.Pro891His)
c.1961C>A (p.Pro654His)
c.2597C>A (p.Pro866His)
c.812C>A (p.Pro271His)
n.2948C>A
6g.52045010G>ACA138963438PKHD1c.2671C>T (p.Pro891Ser)
c.1960C>T (p.Pro654Ser)
c.2596C>T (p.Pro866Ser)
c.811C>T (p.Pro271Ser)
n.2947C>T
 dbSNP gnomAD v4
6g.52045010G>CCA364442842PKHD1c.2671C>G (p.Pro891Ala)
c.1960C>G (p.Pro654Ala)
c.2596C>G (p.Pro866Ala)
c.811C>G (p.Pro271Ala)
n.2947C>G
6g.52045010G=CA1628629635PKHD1c.2671C= (p.Pro891=)
c.1960C= (p.Pro654=)
c.2596C= (p.Pro866=)
c.811C= (p.Pro271=)
n.2947C=
6g.52045010G>TCA364442841PKHD1c.2671C>A (p.Pro891Thr)
c.1960C>A (p.Pro654Thr)
c.2596C>A (p.Pro866Thr)
c.811C>A (p.Pro271Thr)
n.2947C>A
6g.52045011T>ACA3853150PKHD1c.2670A>T (p.Gly890=)
c.1959A>T (p.Gly653=)
c.2595A>T (p.Gly865=)
c.810A>T (p.Gly270=)
n.2946A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52045011T>CCA450420428PKHD1c.2670A>G (p.Gly890=)
c.1959A>G (p.Gly653=)
c.2595A>G (p.Gly865=)
c.810A>G (p.Gly270=)
n.2946A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
6g.52045011T>GCA450420429PKHD1c.2670A>C (p.Gly890=)
c.1959A>C (p.Gly653=)
c.2595A>C (p.Gly865=)
c.810A>C (p.Gly270=)
n.2946A>C
6g.52045011T=CA1628629638PKHD1c.2670A= (p.Gly890=)
c.1959A= (p.Gly653=)
c.2595A= (p.Gly865=)
c.810A= (p.Gly270=)
n.2946A=
6g.52045012C>ACA364442843PKHD1c.2669G>T (p.Gly890Val)
c.1958G>T (p.Gly653Val)
c.2594G>T (p.Gly865Val)
c.809G>T (p.Gly270Val)
n.2945G>T
 gnomAD v4
6g.52045012C>GCA364442844PKHD1c.2669G>C (p.Gly890Ala)
c.1958G>C (p.Gly653Ala)
c.2594G>C (p.Gly865Ala)
c.809G>C (p.Gly270Ala)
n.2945G>C
6g.52045012C>TCA364442845PKHD1c.2669G>A (p.Gly890Glu)
c.1958G>A (p.Gly653Glu)
c.2594G>A (p.Gly865Glu)
c.809G>A (p.Gly270Glu)
n.2945G>A
6g.52045013C>ACA364442846PKHD1c.2668G>T (p.Gly890Ter)
c.1957G>T (p.Gly653Ter)
c.2593G>T (p.Gly865Ter)
c.808G>T (p.Gly270Ter)
n.2944G>T
6g.52045013C>GCA364442848PKHD1c.2668G>C (p.Gly890Arg)
c.1957G>C (p.Gly653Arg)
c.2593G>C (p.Gly865Arg)
c.808G>C (p.Gly270Arg)
n.2944G>C
6g.52045013C>TCA364442847PKHD1c.2668G>A (p.Gly890Arg)
c.1957G>A (p.Gly653Arg)
c.2593G>A (p.Gly865Arg)
c.808G>A (p.Gly270Arg)
n.2944G>A
6g.52045014A=CA1628629655PKHD1c.2667T= (p.Leu889=)
c.1956T= (p.Leu652=)
c.2592T= (p.Leu864=)
c.807T= (p.Leu269=)
n.2943T=
6g.52045014A>CCA450420431PKHD1c.2667T>G (p.Leu889=)
c.1956T>G (p.Leu652=)
c.2592T>G (p.Leu864=)
c.807T>G (p.Leu269=)
n.2943T>G
6g.52045014A>GCA138963447PKHD1c.2667T>C (p.Leu889=)
c.1956T>C (p.Leu652=)
c.2592T>C (p.Leu864=)
c.807T>C (p.Leu269=)
n.2943T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.52045014A>TCA450420432PKHD1c.2667T>A (p.Leu889=)
c.1956T>A (p.Leu652=)
c.2592T>A (p.Leu864=)
c.807T>A (p.Leu269=)
n.2943T>A
6g.52045015A>CCA364442849PKHD1c.2666T>G (p.Leu889Arg)
c.1955T>G (p.Leu652Arg)
c.2591T>G (p.Leu864Arg)
c.806T>G (p.Leu269Arg)
n.2942T>G
6g.52045015A>GCA364442850PKHD1c.2666T>C (p.Leu889Pro)
c.1955T>C (p.Leu652Pro)
c.2591T>C (p.Leu864Pro)
c.806T>C (p.Leu269Pro)
n.2942T>C
6g.52045015A>TCA364442851PKHD1c.2666T>A (p.Leu889His)
c.1955T>A (p.Leu652His)
c.2591T>A (p.Leu864His)
c.806T>A (p.Leu269His)
n.2942T>A
6g.52045016G>ACA364442852PKHD1c.2665C>T (p.Leu889Phe)
c.1954C>T (p.Leu652Phe)
c.2590C>T (p.Leu864Phe)
c.805C>T (p.Leu269Phe)
n.2941C>T
6g.52045016G>CCA364442853PKHD1c.2665C>G (p.Leu889Val)
c.1954C>G (p.Leu652Val)
c.2590C>G (p.Leu864Val)
c.805C>G (p.Leu269Val)
n.2941C>G
6g.52045016G>TCA364442854PKHD1c.2665C>A (p.Leu889Ile)
c.1954C>A (p.Leu652Ile)
c.2590C>A (p.Leu864Ile)
c.805C>A (p.Leu269Ile)
n.2941C>A
6g.52045017A>CCA364442855PKHD1c.2664T>G (p.Phe888Leu)
c.1953T>G (p.Phe651Leu)
c.2589T>G (p.Phe863Leu)
c.804T>G (p.Phe268Leu)
n.2940T>G
6g.52045017A>GCA450420433PKHD1c.2664T>C (p.Phe888=)
c.1953T>C (p.Phe651=)
c.2589T>C (p.Phe863=)
c.804T>C (p.Phe268=)
n.2940T>C
6g.52045017A>TCA364442856PKHD1c.2664T>A (p.Phe888Leu)
c.1953T>A (p.Phe651Leu)
c.2589T>A (p.Phe863Leu)
c.804T>A (p.Phe268Leu)
n.2940T>A
6g.52045021dupCA645567085PKHD1c.2664dup (p.Leu889SerfsTer24)
c.1953dup (p.Leu652SerfsTer24)
c.2589dup (p.Leu864SerfsTer24)
c.804dup (p.Leu269SerfsTer24)
n.2940dup
 COSMIC
6g.52045021delCA2499218379PKHD1c.2664del (p.Gly890AspfsTer21)
c.1953del (p.Gly653AspfsTer21)
c.2589del (p.Gly865AspfsTer21)
c.804del (p.Gly270AspfsTer21)
n.2940del
 ClinVar dbSNP
6g.52045017_52045018insTCA450420434PKHD1c.2663_2664insA (p.Phe888LeufsTer25)
c.1952_1953insA (p.Phe651LeufsTer25)
c.2588_2589insA (p.Phe863LeufsTer25)
c.803_804insA (p.Phe268LeufsTer25)
n.2939_2940insA
6g.52045018A=CA1628629659PKHD1c.2663T= (p.Phe888=)
c.1952T= (p.Phe651=)
c.2588T= (p.Phe863=)
c.803T= (p.Phe268=)
n.2939T=
6g.52045018A>CCA364442857PKHD1c.2663T>G (p.Phe888Cys)
c.1952T>G (p.Phe651Cys)
c.2588T>G (p.Phe863Cys)
c.803T>G (p.Phe268Cys)
n.2939T>G
6g.52045018A>GCA364442858PKHD1c.2663T>C (p.Phe888Ser)
c.1952T>C (p.Phe651Ser)
c.2588T>C (p.Phe863Ser)
c.803T>C (p.Phe268Ser)
n.2939T>C
6g.52045018A>TCA364442859PKHD1c.2663T>A (p.Phe888Tyr)
c.1952T>A (p.Phe651Tyr)
c.2588T>A (p.Phe863Tyr)
c.803T>A (p.Phe268Tyr)
n.2939T>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.52045019A>CCA364442860PKHD1c.2662T>G (p.Phe888Val)
c.1951T>G (p.Phe651Val)
c.2587T>G (p.Phe863Val)
c.802T>G (p.Phe268Val)
n.2938T>G
6g.52045019A>GCA364442862PKHD1c.2662T>C (p.Phe888Leu)
c.1951T>C (p.Phe651Leu)
c.2587T>C (p.Phe863Leu)
c.802T>C (p.Phe268Leu)
n.2938T>C
6g.52045019A>TCA364442861PKHD1c.2662T>A (p.Phe888Ile)
c.1951T>A (p.Phe651Ile)
c.2587T>A (p.Phe863Ile)
c.802T>A (p.Phe268Ile)
n.2938T>A
6g.52045020A>CCA450420440PKHD1c.2661T>G (p.Val887=)
c.1950T>G (p.Val650=)
c.2586T>G (p.Val862=)
c.801T>G (p.Val267=)
n.2937T>G
6g.52045020A>GCA450420439PKHD1c.2661T>C (p.Val887=)
c.1950T>C (p.Val650=)
c.2586T>C (p.Val862=)
c.801T>C (p.Val267=)
n.2937T>C
6g.52045020A>TCA450420438PKHD1c.2661T>A (p.Val887=)
c.1950T>A (p.Val650=)
c.2586T>A (p.Val862=)
c.801T>A (p.Val267=)
n.2937T>A
6g.52045021A>CCA364442863PKHD1c.2660T>G (p.Val887Gly)
c.1949T>G (p.Val650Gly)
c.2585T>G (p.Val862Gly)
c.800T>G (p.Val267Gly)
n.2936T>G
6g.52045021A>GCA364442865PKHD1c.2660T>C (p.Val887Ala)
c.1949T>C (p.Val650Ala)
c.2585T>C (p.Val862Ala)
c.800T>C (p.Val267Ala)
n.2936T>C
6g.52045021A>TCA364442864PKHD1c.2660T>A (p.Val887Asp)
c.1949T>A (p.Val650Asp)
c.2585T>A (p.Val862Asp)
c.800T>A (p.Val267Asp)
n.2936T>A
 gnomAD v4
6g.52045022C>ACA364442866PKHD1c.2659G>T (p.Val887Phe)
c.1948G>T (p.Val650Phe)
c.2584G>T (p.Val862Phe)
c.799G>T (p.Val267Phe)
n.2935G>T
6g.52045022C>GCA364442868PKHD1c.2659G>C (p.Val887Leu)
c.1948G>C (p.Val650Leu)
c.2584G>C (p.Val862Leu)
c.799G>C (p.Val267Leu)
n.2935G>C
6g.52045022C>TCA364442867PKHD1c.2659G>A (p.Val887Ile)
c.1948G>A (p.Val650Ile)
c.2584G>A (p.Val862Ile)
c.799G>A (p.Val267Ile)
n.2935G>A
6g.52045023T>ACA450420442PKHD1c.2658A>T (p.Gly886=)
c.1947A>T (p.Gly649=)
c.2583A>T (p.Gly861=)
c.798A>T (p.Gly266=)
n.2934A>T
6g.52045023T>CCA450420443PKHD1c.2658A>G (p.Gly886=)
c.1947A>G (p.Gly649=)
c.2583A>G (p.Gly861=)
c.798A>G (p.Gly266=)
n.2934A>G
6g.52045023T>GCA450420444PKHD1c.2658A>C (p.Gly886=)
c.1947A>C (p.Gly649=)
c.2583A>C (p.Gly861=)
c.798A>C (p.Gly266=)
n.2934A>C
6g.52045024C>ACA364442869PKHD1c.2657G>T (p.Gly886Val)
c.1946G>T (p.Gly649Val)
c.2582G>T (p.Gly861Val)
c.797G>T (p.Gly266Val)
n.2933G>T
6g.52045024C>GCA364442870PKHD1c.2657G>C (p.Gly886Ala)
c.1946G>C (p.Gly649Ala)
c.2582G>C (p.Gly861Ala)
c.797G>C (p.Gly266Ala)
n.2933G>C
6g.52045024C>TCA364442871PKHD1c.2657G>A (p.Gly886Glu)
c.1946G>A (p.Gly649Glu)
c.2582G>A (p.Gly861Glu)
c.797G>A (p.Gly266Glu)
n.2933G>A
 gnomAD v4
6g.52045025C>ACA364442872PKHD1c.2656G>T (p.Gly886Ter)
c.1945G>T (p.Gly649Ter)
c.2581G>T (p.Gly861Ter)
c.796G>T (p.Gly266Ter)
n.2932G>T
6g.52045025C>GCA364442873PKHD1c.2656G>C (p.Gly886Arg)
c.1945G>C (p.Gly649Arg)
c.2581G>C (p.Gly861Arg)
c.796G>C (p.Gly266Arg)
n.2932G>C
6g.52045025C>TCA364442874PKHD1c.2656G>A (p.Gly886Arg)
c.1945G>A (p.Gly649Arg)
c.2581G>A (p.Gly861Arg)
c.796G>A (p.Gly266Arg)
n.2932G>A
 gnomAD v4
6g.52045026A=CA1628629662PKHD1c.2655T= (p.Gly885=)
c.1944T= (p.Gly648=)
c.2580T= (p.Gly860=)
c.795T= (p.Gly265=)
n.2931T=
6g.52045026A>CCA450420445PKHD1c.2655T>G (p.Gly885=)
c.1944T>G (p.Gly648=)
c.2580T>G (p.Gly860=)
c.795T>G (p.Gly265=)
n.2931T>G
6g.52045026A>GCA138963470PKHD1c.2655T>C (p.Gly885=)
c.1944T>C (p.Gly648=)
c.2580T>C (p.Gly860=)
c.795T>C (p.Gly265=)
n.2931T>C
 dbSNP
6g.52045026A>TCA450420448PKHD1c.2655T>A (p.Gly885=)
c.1944T>A (p.Gly648=)
c.2580T>A (p.Gly860=)
c.795T>A (p.Gly265=)
n.2931T>A
6g.52045027C>ACA364442875PKHD1c.2654G>T (p.Gly885Val)
c.1943G>T (p.Gly648Val)
c.2579G>T (p.Gly860Val)
c.794G>T (p.Gly265Val)
n.2930G>T
6g.52045027C=CA1628629675PKHD1c.2654G= (p.Gly885=)
c.1943G= (p.Gly648=)
c.2579G= (p.Gly860=)
c.794G= (p.Gly265=)
n.2930G=
6g.52045027C>GCA364442876PKHD1c.2654G>C (p.Gly885Ala)
c.1943G>C (p.Gly648Ala)
c.2579G>C (p.Gly860Ala)
c.794G>C (p.Gly265Ala)
n.2930G>C
6g.52045027C>TCA364442877PKHD1c.2654G>A (p.Gly885Asp)
c.1943G>A (p.Gly648Asp)
c.2579G>A (p.Gly860Asp)
c.794G>A (p.Gly265Asp)
n.2930G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.52045028C>ACA364442878PKHD1c.2653G>T (p.Gly885Cys)
c.1942G>T (p.Gly648Cys)
c.2578G>T (p.Gly860Cys)
c.793G>T (p.Gly265Cys)
n.2929G>T
6g.52045028C=CA1628629682PKHD1c.2653G= (p.Gly885=)
c.1942G= (p.Gly648=)
c.2578G= (p.Gly860=)
c.793G= (p.Gly265=)
n.2929G=
6g.52045028C>GCA364442879PKHD1c.2653G>C (p.Gly885Arg)
c.1942G>C (p.Gly648Arg)
c.2578G>C (p.Gly860Arg)
c.793G>C (p.Gly265Arg)
n.2929G>C
6g.52045028C>TCA3853151PKHD1c.2653G>A (p.Gly885Ser)
c.1942G>A (p.Gly648Ser)
c.2578G>A (p.Gly860Ser)
c.793G>A (p.Gly265Ser)
n.2929G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.52045029A>CCA364442880PKHD1c.2652T>G (p.Asp884Glu)
c.1941T>G (p.Asp647Glu)
c.2577T>G (p.Asp859Glu)
c.792T>G (p.Asp264Glu)
n.2928T>G
6g.52045029A>GCA450420449PKHD1c.2652T>C (p.Asp884=)
c.1941T>C (p.Asp647=)
c.2577T>C (p.Asp859=)
c.792T>C (p.Asp264=)
n.2928T>C
6g.52045029A>TCA364442881PKHD1c.2652T>A (p.Asp884Glu)
c.1941T>A (p.Asp647Glu)
c.2577T>A (p.Asp859Glu)
c.792T>A (p.Asp264Glu)
n.2928T>A
6g.52045030T>ACA364442882PKHD1c.2651A>T (p.Asp884Val)
c.1940A>T (p.Asp647Val)
c.2576A>T (p.Asp859Val)
c.791A>T (p.Asp264Val)
n.2927A>T
6g.52045030T>CCA364442883PKHD1c.2651A>G (p.Asp884Gly)
c.1940A>G (p.Asp647Gly)
c.2576A>G (p.Asp859Gly)
c.791A>G (p.Asp264Gly)
n.2927A>G
6g.52045030T>GCA364442884PKHD1c.2651A>C (p.Asp884Ala)
c.1940A>C (p.Asp647Ala)
c.2576A>C (p.Asp859Ala)
c.791A>C (p.Asp264Ala)
n.2927A>C
6g.52045031C>ACA364442885PKHD1c.2650G>T (p.Asp884Tyr)
c.1939G>T (p.Asp647Tyr)
c.2575G>T (p.Asp859Tyr)
c.790G>T (p.Asp264Tyr)
n.2926G>T
6g.52045031C>GCA364442886PKHD1c.2650G>C (p.Asp884His)
c.1939G>C (p.Asp647His)
c.2575G>C (p.Asp859His)
c.790G>C (p.Asp264His)
n.2926G>C
6g.52045031C>TCA364442887PKHD1c.2650G>A (p.Asp884Asn)
c.1939G>A (p.Asp647Asn)
c.2575G>A (p.Asp859Asn)
c.790G>A (p.Asp264Asn)
n.2926G>A
6g.52045031_52045033delinsCATCA1628629698PKHD1c.2648_2650delinsATG (p.Tyr883=)
c.1937_1939delinsATG (p.Tyr646=)
c.2573_2575delinsATG (p.Tyr858=)
c.788_790delinsATG (p.Tyr263=)
n.2924_2926delinsATG
6g.52045032A=CA1628629700PKHD1c.2649T= (p.Tyr883=)
c.1938T= (p.Tyr646=)
c.2574T= (p.Tyr858=)
c.789T= (p.Tyr263=)
n.2925T=
6g.52045032A>CCA364442888PKHD1c.2649T>G (p.Tyr883Ter)
c.1938T>G (p.Tyr646Ter)
c.2574T>G (p.Tyr858Ter)
c.789T>G (p.Tyr263Ter)
n.2925T>G
6g.52045032A>GCA450420452PKHD1c.2649T>C (p.Tyr883=)
c.1938T>C (p.Tyr646=)
c.2574T>C (p.Tyr858=)
c.789T>C (p.Tyr263=)
n.2925T>C
6g.52045032A>TCA364442889PKHD1c.2649T>A (p.Tyr883Ter)
c.1938T>A (p.Tyr646Ter)
c.2574T>A (p.Tyr858Ter)
c.789T>A (p.Tyr263Ter)
n.2925T>A
 dbSNP
6g.52045035_52045036dupCA3853152PKHD1c.2648_2649dup (p.Asp884MetfsTer28)
c.1937_1938dup (p.Asp647MetfsTer28)
c.2573_2574dup (p.Asp859MetfsTer28)
c.788_789dup (p.Asp264MetfsTer28)
n.2924_2925dup
 dbSNP ExAC gnomAD v2
6g.52045035_52045036delCA1628629701PKHD1c.2648_2649del (p.Tyr883Ter)
c.1937_1938del (p.Tyr646Ter)
c.2573_2574del (p.Tyr858Ter)
c.788_789del (p.Tyr263Ter)
n.2924_2925del
 ClinVar dbSNP
6g.52045033T>ACA364442890PKHD1c.2648A>T (p.Tyr883Phe)
c.1937A>T (p.Tyr646Phe)
c.2573A>T (p.Tyr858Phe)
c.788A>T (p.Tyr263Phe)
n.2924A>T
6g.52045033T>CCA364442891PKHD1c.2648A>G (p.Tyr883Cys)
c.1937A>G (p.Tyr646Cys)
c.2573A>G (p.Tyr858Cys)
c.788A>G (p.Tyr263Cys)
n.2924A>G
 dbSNP gnomAD v2 gnomAD v4
6g.52045033T>GCA364442892PKHD1c.2648A>C (p.Tyr883Ser)
c.1937A>C (p.Tyr646Ser)
c.2573A>C (p.Tyr858Ser)
c.788A>C (p.Tyr263Ser)
n.2924A>C
6g.52045033T=CA1628629707PKHD1c.2648A= (p.Tyr883=)
c.1937A= (p.Tyr646=)
c.2573A= (p.Tyr858=)
c.788A= (p.Tyr263=)
n.2924A=
6g.52045034A=CA1628629710PKHD1c.2647T= (p.Tyr883=)
c.1936T= (p.Tyr646=)
c.2572T= (p.Tyr858=)
c.787T= (p.Tyr263=)
n.2923T=
6g.52045034A>CCA138963501PKHD1c.2647T>G (p.Tyr883Asp)
c.1936T>G (p.Tyr646Asp)
c.2572T>G (p.Tyr858Asp)
c.787T>G (p.Tyr263Asp)
n.2923T>G
 dbSNP
6g.52045034A>GCA364442894PKHD1c.2647T>C (p.Tyr883His)
c.1936T>C (p.Tyr646His)
c.2572T>C (p.Tyr858His)
c.787T>C (p.Tyr263His)
n.2923T>C
6g.52045034A>TCA364442893PKHD1c.2647T>A (p.Tyr883Asn)
c.1936T>A (p.Tyr646Asn)
c.2572T>A (p.Tyr858Asn)
c.787T>A (p.Tyr263Asn)
n.2923T>A
6g.52045035T>ACA450420458PKHD1c.2646A>T (p.Val882=)
c.1935A>T (p.Val645=)
c.2571A>T (p.Val857=)
c.786A>T (p.Val262=)
n.2922A>T
6g.52045035T>CCA450420456PKHD1c.2646A>G (p.Val882=)
c.1935A>G (p.Val645=)
c.2571A>G (p.Val857=)
c.786A>G (p.Val262=)
n.2922A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.52045035T>GCA450420457PKHD1c.2646A>C (p.Val882=)
c.1935A>C (p.Val645=)
c.2571A>C (p.Val857=)
c.786A>C (p.Val262=)
n.2922A>C
6g.52045035T=CA1628629713PKHD1c.2646A= (p.Val882=)
c.1935A= (p.Val645=)
c.2571A= (p.Val857=)
c.786A= (p.Val262=)
n.2922A=
6g.52045036A=CA1628629729PKHD1c.2645T= (p.Val882=)
c.1934T= (p.Val645=)
c.2570T= (p.Val857=)
c.785T= (p.Val262=)
n.2921T=
6g.52045036A>CCA364442895PKHD1c.2645T>G (p.Val882Gly)
c.1934T>G (p.Val645Gly)
c.2570T>G (p.Val857Gly)
c.785T>G (p.Val262Gly)
n.2921T>G
6g.52045036A>GCA3853153PKHD1c.2645T>C (p.Val882Ala)
c.1934T>C (p.Val645Ala)
c.2570T>C (p.Val857Ala)
c.785T>C (p.Val262Ala)
n.2921T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.52045036A>TCA364442896PKHD1c.2645T>A (p.Val882Glu)
c.1934T>A (p.Val645Glu)
c.2570T>A (p.Val857Glu)
c.785T>A (p.Val262Glu)
n.2921T>A
6g.52045037C>ACA364442897PKHD1c.2644G>T (p.Val882Leu)
c.1933G>T (p.Val645Leu)
c.2569G>T (p.Val857Leu)
c.784G>T (p.Val262Leu)
n.2920G>T
 gnomAD v4
6g.52045037C>GCA364442898PKHD1c.2644G>C (p.Val882Leu)
c.1933G>C (p.Val645Leu)
c.2569G>C (p.Val857Leu)
c.784G>C (p.Val262Leu)
n.2920G>C
6g.52045037C>TCA364442899PKHD1c.2644G>A (p.Val882Ile)
c.1933G>A (p.Val645Ile)
c.2569G>A (p.Val857Ile)
c.784G>A (p.Val262Ile)
n.2920G>A
6g.52045038C>ACA450420460PKHD1c.2643G>T (p.Val881=)
c.1932G>T (p.Val644=)
c.2568G>T (p.Val856=)
c.783G>T (p.Val261=)
n.2919G>T
6g.52045038C=CA1628629733PKHD1c.2643G= (p.Val881=)
c.1932G= (p.Val644=)
c.2568G= (p.Val856=)
c.783G= (p.Val261=)
n.2919G=
6g.52045038C>GCA450420461PKHD1c.2643G>C (p.Val881=)
c.1932G>C (p.Val644=)
c.2568G>C (p.Val856=)
c.783G>C (p.Val261=)
n.2919G>C
 dbSNP gnomAD v2 gnomAD v4
6g.52045038C>TCA450420462PKHD1c.2643G>A (p.Val881=)
c.1932G>A (p.Val644=)
c.2568G>A (p.Val856=)
c.783G>A (p.Val261=)
n.2919G>A
 gnomAD v4
6g.52045039A=CA1628629738PKHD1c.2642T= (p.Val881=)
c.1931T= (p.Val644=)
c.2567T= (p.Val856=)
c.782T= (p.Val261=)
n.2918T=
6g.52045039A>CCA364442900PKHD1c.2642T>G (p.Val881Gly)
c.1931T>G (p.Val644Gly)
c.2567T>G (p.Val856Gly)
c.782T>G (p.Val261Gly)
n.2918T>G
 gnomAD v4
6g.52045039A>GCA138963504PKHD1c.2642T>C (p.Val881Ala)
c.1931T>C (p.Val644Ala)
c.2567T>C (p.Val856Ala)
c.782T>C (p.Val261Ala)
n.2918T>C
 ClinVar dbSNP
6g.52045039A>TCA364442901PKHD1c.2642T>A (p.Val881Glu)
c.1931T>A (p.Val644Glu)
c.2567T>A (p.Val856Glu)
c.782T>A (p.Val261Glu)
n.2918T>A
6g.52045040C>ACA364442902PKHD1c.2641G>T (p.Val881Leu)
c.1930G>T (p.Val644Leu)
c.2566G>T (p.Val856Leu)
c.781G>T (p.Val261Leu)
n.2917G>T
 gnomAD v4
6g.52045040C=CA1628629742PKHD1c.2641G= (p.Val881=)
c.1930G= (p.Val644=)
c.2566G= (p.Val856=)
c.781G= (p.Val261=)
n.2917G=
6g.52045040C>GCA364442903PKHD1c.2641G>C (p.Val881Leu)
c.1930G>C (p.Val644Leu)
c.2566G>C (p.Val856Leu)
c.781G>C (p.Val261Leu)
n.2917G>C
6g.52045040C>TCA364442904PKHD1c.2641G>A (p.Val881Met)
c.1930G>A (p.Val644Met)
c.2566G>A (p.Val856Met)
c.781G>A (p.Val261Met)
n.2917G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.52045041A>CCA450420465PKHD1c.2640T>G (p.Arg880=)
c.1929T>G (p.Arg643=)
c.2565T>G (p.Arg855=)
c.780T>G (p.Arg260=)
n.2916T>G
 ClinVar
6g.52045041A>GCA450420466PKHD1c.2640T>C (p.Arg880=)
c.1929T>C (p.Arg643=)
c.2565T>C (p.Arg855=)
c.780T>C (p.Arg260=)
n.2916T>C
6g.52045041A>TCA450420467PKHD1c.2640T>A (p.Arg880=)
c.1929T>A (p.Arg643=)
c.2565T>A (p.Arg855=)
c.780T>A (p.Arg260=)
n.2916T>A
6g.52045042C>ACA364442906PKHD1c.2639G>T (p.Arg880Leu)
c.1928G>T (p.Arg643Leu)
c.2564G>T (p.Arg855Leu)
c.779G>T (p.Arg260Leu)
n.2915G>T
 COSMIC COSMIC
6g.52045042C=CA1628629745PKHD1c.2639G= (p.Arg880=)
c.1928G= (p.Arg643=)
c.2564G= (p.Arg855=)
c.779G= (p.Arg260=)
n.2915G=
6g.52045042C>GCA364442905PKHD1c.2639G>C (p.Arg880Pro)
c.1928G>C (p.Arg643Pro)
c.2564G>C (p.Arg855Pro)
c.779G>C (p.Arg260Pro)
n.2915G>C
 ClinVar gnomAD v4
6g.52045042C>TCA10604054PKHD1c.2639G>A (p.Arg880His)
c.1928G>A (p.Arg643His)
c.2564G>A (p.Arg855His)
c.779G>A (p.Arg260His)
n.2915G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.52045043G>ACA3853154PKHD1c.2638C>T (p.Arg880Cys)
c.1927C>T (p.Arg643Cys)
c.2563C>T (p.Arg855Cys)
c.778C>T (p.Arg260Cys)
n.2914C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.52045043G>CCA138963524PKHD1c.2638C>G (p.Arg880Gly)
c.1927C>G (p.Arg643Gly)
c.2563C>G (p.Arg855Gly)
c.778C>G (p.Arg260Gly)
n.2914C>G
 dbSNP
6g.52045043G=CA1628629751PKHD1c.2638C= (p.Arg880=)
c.1927C= (p.Arg643=)
c.2563C= (p.Arg855=)
c.778C= (p.Arg260=)
n.2914C=
6g.52045043G>TCA364442907PKHD1c.2638C>A (p.Arg880Ser)
c.1927C>A (p.Arg643Ser)
c.2563C>A (p.Arg855Ser)
c.778C>A (p.Arg260Ser)
n.2914C>A
 gnomAD v4
6g.52045044C>ACA450420469PKHD1c.2637G>T (p.Thr879=)
c.1926G>T (p.Thr642=)
c.2562G>T (p.Thr854=)
c.777G>T (p.Thr259=)
n.2913G>T
 ClinVar
6g.52045044C=CA1628629761PKHD1c.2637G= (p.Thr879=)
c.1926G= (p.Thr642=)
c.2562G= (p.Thr854=)
c.777G= (p.Thr259=)
n.2913G=
6g.52045044C>GCA450420470PKHD1c.2637G>C (p.Thr879=)
c.1926G>C (p.Thr642=)
c.2562G>C (p.Thr854=)
c.777G>C (p.Thr259=)
n.2913G>C
6g.52045044C>TCA3853155PKHD1c.2637G>A (p.Thr879=)
c.1926G>A (p.Thr642=)
c.2562G>A (p.Thr854=)
c.777G>A (p.Thr259=)
n.2913G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52045045G>ACA3853156PKHD1c.2636C>T (p.Thr879Met)
c.1925C>T (p.Thr642Met)
c.2561C>T (p.Thr854Met)
c.776C>T (p.Thr259Met)
n.2912C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52045045G>CCA364442908PKHD1c.2636C>G (p.Thr879Arg)
c.1925C>G (p.Thr642Arg)
c.2561C>G (p.Thr854Arg)
c.776C>G (p.Thr259Arg)
n.2912C>G
6g.52045045G=CA1628629770PKHD1c.2636C= (p.Thr879=)
c.1925C= (p.Thr642=)
c.2561C= (p.Thr854=)
c.776C= (p.Thr259=)
n.2912C=
6g.52045045G>TCA364442909PKHD1c.2636C>A (p.Thr879Lys)
c.1925C>A (p.Thr642Lys)
c.2561C>A (p.Thr854Lys)
c.776C>A (p.Thr259Lys)
n.2912C>A
 gnomAD v4
6g.52045046T>ACA364442910PKHD1c.2635A>T (p.Thr879Ser)
c.1924A>T (p.Thr642Ser)
c.2560A>T (p.Thr854Ser)
c.775A>T (p.Thr259Ser)
n.2911A>T
6g.52045046T>CCA364442911PKHD1c.2635A>G (p.Thr879Ala)
c.1924A>G (p.Thr642Ala)
c.2560A>G (p.Thr854Ala)
c.775A>G (p.Thr259Ala)
n.2911A>G
6g.52045046T>GCA364442912PKHD1c.2635A>C (p.Thr879Pro)
c.1924A>C (p.Thr642Pro)
c.2560A>C (p.Thr854Pro)
c.775A>C (p.Thr259Pro)
n.2911A>C
6g.52045047G>ACA3853157PKHD1c.2634C>T (p.Ala878=)
c.1923C>T (p.Ala641=)
c.2559C>T (p.Ala853=)
c.774C>T (p.Ala258=)
n.2910C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.52045047G>CCA450420474PKHD1c.2634C>G (p.Ala878=)
c.1923C>G (p.Ala641=)
c.2559C>G (p.Ala853=)
c.774C>G (p.Ala258=)
n.2910C>G
6g.52045047G=CA1628629774PKHD1c.2634C= (p.Ala878=)
c.1923C= (p.Ala641=)
c.2559C= (p.Ala853=)
c.774C= (p.Ala258=)
n.2910C=
6g.52045047G>TCA450420475PKHD1c.2634C>A (p.Ala878=)
c.1923C>A (p.Ala641=)
c.2559C>A (p.Ala853=)
c.774C>A (p.Ala258=)
n.2910C>A
6g.52045048G>ACA364442915PKHD1c.2633C>T (p.Ala878Val)
c.1922C>T (p.Ala641Val)
c.2558C>T (p.Ala853Val)
c.773C>T (p.Ala258Val)
n.2909C>T
 dbSNP gnomAD v2 gnomAD v4
6g.52045048G>CCA364442914PKHD1c.2633C>G (p.Ala878Gly)
c.1922C>G (p.Ala641Gly)
c.2558C>G (p.Ala853Gly)
c.773C>G (p.Ala258Gly)
n.2909C>G
 COSMIC COSMIC
6g.52045048G=CA1628629778PKHD1c.2633C= (p.Ala878=)
c.1922C= (p.Ala641=)
c.2558C= (p.Ala853=)
c.773C= (p.Ala258=)
n.2909C=
6g.52045048G>TCA364442913PKHD1c.2633C>A (p.Ala878Asp)
c.1922C>A (p.Ala641Asp)
c.2558C>A (p.Ala853Asp)
c.773C>A (p.Ala258Asp)
n.2909C>A
6g.52045049C>ACA364442916PKHD1c.2632G>T (p.Ala878Ser)
c.1921G>T (p.Ala641Ser)
c.2557G>T (p.Ala853Ser)
c.772G>T (p.Ala258Ser)
n.2908G>T
6g.52045049C>GCA364442918PKHD1c.2632G>C (p.Ala878Pro)
c.1921G>C (p.Ala641Pro)
c.2557G>C (p.Ala853Pro)
c.772G>C (p.Ala258Pro)
n.2908G>C
6g.52045049C>TCA364442917PKHD1c.2632G>A (p.Ala878Thr)
c.1921G>A (p.Ala641Thr)
c.2557G>A (p.Ala853Thr)
c.772G>A (p.Ala258Thr)
n.2908G>A
6g.52045050T>ACA450420477PKHD1c.2631A>T (p.Ala877=)
c.1920A>T (p.Ala640=)
c.2556A>T (p.Ala852=)
c.771A>T (p.Ala257=)
n.2907A>T
6g.52045050T>CCA450420478PKHD1c.2631A>G (p.Ala877=)
c.1920A>G (p.Ala640=)
c.2556A>G (p.Ala852=)
c.771A>G (p.Ala257=)
n.2907A>G
6g.52045050T>GCA450420479PKHD1c.2631A>C (p.Ala877=)
c.1920A>C (p.Ala640=)
c.2556A>C (p.Ala852=)
c.771A>C (p.Ala257=)
n.2907A>C
6g.52045051G>ACA3853158PKHD1c.2630C>T (p.Ala877Val)
c.1919C>T (p.Ala640Val)
c.2555C>T (p.Ala852Val)
c.770C>T (p.Ala257Val)
n.2906C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.52045051G>CCA364442919PKHD1c.2630C>G (p.Ala877Gly)
c.1919C>G (p.Ala640Gly)
c.2555C>G (p.Ala852Gly)
c.770C>G (p.Ala257Gly)
n.2906C>G
6g.52045051G=CA1628629781PKHD1c.2630C= (p.Ala877=)
c.1919C= (p.Ala640=)
c.2555C= (p.Ala852=)
c.770C= (p.Ala257=)
n.2906C=
6g.52045051G>TCA364442920PKHD1c.2630C>A (p.Ala877Glu)
c.1919C>A (p.Ala640Glu)
c.2555C>A (p.Ala852Glu)
c.770C>A (p.Ala257Glu)
n.2906C>A
6g.52045052C>ACA364442921PKHD1c.2629G>T (p.Ala877Ser)
c.1918G>T (p.Ala640Ser)
c.2554G>T (p.Ala852Ser)
c.769G>T (p.Ala257Ser)
n.2905G>T
6g.52045052C>GCA364442922PKHD1c.2629G>C (p.Ala877Pro)
c.1918G>C (p.Ala640Pro)
c.2554G>C (p.Ala852Pro)
c.769G>C (p.Ala257Pro)
n.2905G>C
6g.52045052C>TCA364442923PKHD1c.2629G>A (p.Ala877Thr)
c.1918G>A (p.Ala640Thr)
c.2554G>A (p.Ala852Thr)
c.769G>A (p.Ala257Thr)
n.2905G>A
 gnomAD v4
6g.52045053A>CCA450420481PKHD1c.2628T>G (p.Ala876=)
c.1917T>G (p.Ala639=)
c.2553T>G (p.Ala851=)
c.768T>G (p.Ala256=)
n.2904T>G
6g.52045053A>GCA450420482PKHD1c.2628T>C (p.Ala876=)
c.1917T>C (p.Ala639=)
c.2553T>C (p.Ala851=)
c.768T>C (p.Ala256=)
n.2904T>C
 ClinVar dbSNP gnomAD v4
6g.52045053A>TCA450420483PKHD1c.2628T>A (p.Ala876=)
c.1917T>A (p.Ala639=)
c.2553T>A (p.Ala851=)
c.768T>A (p.Ala256=)
n.2904T>A
6g.52045054G>ACA364442924PKHD1c.2627C>T (p.Ala876Val)
c.1916C>T (p.Ala639Val)
c.2552C>T (p.Ala851Val)
c.767C>T (p.Ala256Val)
n.2903C>T
 ClinVar
6g.52045054G>CCA364442925PKHD1c.2627C>G (p.Ala876Gly)
c.1916C>G (p.Ala639Gly)
c.2552C>G (p.Ala851Gly)
c.767C>G (p.Ala256Gly)
n.2903C>G
6g.52045054G>TCA364442926PKHD1c.2627C>A (p.Ala876Asp)
c.1916C>A (p.Ala639Asp)
c.2552C>A (p.Ala851Asp)
c.767C>A (p.Ala256Asp)
n.2903C>A
6g.52045055C>ACA364442927PKHD1c.2626G>T (p.Ala876Ser)
c.1915G>T (p.Ala639Ser)
c.2551G>T (p.Ala851Ser)
c.766G>T (p.Ala256Ser)
n.2902G>T
6g.52045055C=CA1628629786PKHD1c.2626G= (p.Ala876=)
c.1915G= (p.Ala639=)
c.2551G= (p.Ala851=)
c.766G= (p.Ala256=)
n.2902G=
6g.52045055C>GCA364442928PKHD1c.2626G>C (p.Ala876Pro)
c.1915G>C (p.Ala639Pro)
c.2551G>C (p.Ala851Pro)
c.766G>C (p.Ala256Pro)
n.2902G>C
 ClinVar dbSNP
6g.52045055C>TCA364442929PKHD1c.2626G>A (p.Ala876Thr)
c.1915G>A (p.Ala639Thr)
c.2551G>A (p.Ala851Thr)
c.766G>A (p.Ala256Thr)
n.2902G>A
 gnomAD v4
6g.52045056A>CCA450420489PKHD1c.2625T>G (p.Pro875=)
c.1914T>G (p.Pro638=)
c.2550T>G (p.Pro850=)
c.765T>G (p.Pro255=)
n.2901T>G
6g.52045056A>GCA450420488PKHD1c.2625T>C (p.Pro875=)
c.1914T>C (p.Pro638=)
c.2550T>C (p.Pro850=)
c.765T>C (p.Pro255=)
n.2901T>C
6g.52045056A>TCA450420487PKHD1c.2625T>A (p.Pro875=)
c.1914T>A (p.Pro638=)
c.2550T>A (p.Pro850=)
c.765T>A (p.Pro255=)
n.2901T>A
6g.52045057G>ACA364442932PKHD1c.2624C>T (p.Pro875Leu)
c.1913C>T (p.Pro638Leu)
c.2549C>T (p.Pro850Leu)
c.764C>T (p.Pro255Leu)
n.2900C>T
 gnomAD v4 COSMIC COSMIC
6g.52045057G>CCA364442930PKHD1c.2624C>G (p.Pro875Arg)
c.1913C>G (p.Pro638Arg)
c.2549C>G (p.Pro850Arg)
c.764C>G (p.Pro255Arg)
n.2900C>G
6g.52045057G>TCA364442931PKHD1c.2624C>A (p.Pro875His)
c.1913C>A (p.Pro638His)
c.2549C>A (p.Pro850His)
c.764C>A (p.Pro255His)
n.2900C>A
6g.52045058G>ACA364442933PKHD1c.2623C>T (p.Pro875Ser)
c.1912C>T (p.Pro638Ser)
c.2548C>T (p.Pro850Ser)
c.763C>T (p.Pro255Ser)
n.2899C>T
6g.52045058G>CCA364442934PKHD1c.2623C>G (p.Pro875Ala)
c.1912C>G (p.Pro638Ala)
c.2548C>G (p.Pro850Ala)
c.763C>G (p.Pro255Ala)
n.2899C>G
 COSMIC COSMIC
6g.52045058G>TCA364442935PKHD1c.2623C>A (p.Pro875Thr)
c.1912C>A (p.Pro638Thr)
c.2548C>A (p.Pro850Thr)
c.763C>A (p.Pro255Thr)
n.2899C>A
6g.52045059A=CA1628629790PKHD1c.2622T= (p.Asn874=)
c.1911T= (p.Asn637=)
c.2547T= (p.Asn849=)
c.762T= (p.Asn254=)
n.2898T=
6g.52045059A>CCA364442936PKHD1c.2622T>G (p.Asn874Lys)
c.1911T>G (p.Asn637Lys)
c.2547T>G (p.Asn849Lys)
c.762T>G (p.Asn254Lys)
n.2898T>G
6g.52045059A>GCA450420492PKHD1c.2622T>C (p.Asn874=)
c.1911T>C (p.Asn637=)
c.2547T>C (p.Asn849=)
c.762T>C (p.Asn254=)
n.2898T>C
 dbSNP gnomAD v2 gnomAD v4
6g.52045059A>TCA364442937PKHD1c.2622T>A (p.Asn874Lys)
c.1911T>A (p.Asn637Lys)
c.2547T>A (p.Asn849Lys)
c.762T>A (p.Asn254Lys)
n.2898T>A
6g.52045060T>ACA364442938PKHD1c.2621A>T (p.Asn874Ile)
c.1910A>T (p.Asn637Ile)
c.2546A>T (p.Asn849Ile)
c.761A>T (p.Asn254Ile)
n.2897A>T
6g.52045060T>CCA364442939PKHD1c.2621A>G (p.Asn874Ser)
c.1910A>G (p.Asn637Ser)
c.2546A>G (p.Asn849Ser)
c.761A>G (p.Asn254Ser)
n.2897A>G
6g.52045060T>GCA364442940PKHD1c.2621A>C (p.Asn874Thr)
c.1910A>C (p.Asn637Thr)
c.2546A>C (p.Asn849Thr)
c.761A>C (p.Asn254Thr)
n.2897A>C
6g.52045061T>ACA364442941PKHD1c.2620A>T (p.Asn874Tyr)
c.1909A>T (p.Asn637Tyr)
c.2545A>T (p.Asn849Tyr)
c.760A>T (p.Asn254Tyr)
n.2896A>T
6g.52045061T>CCA364442942PKHD1c.2620A>G (p.Asn874Asp)
c.1909A>G (p.Asn637Asp)
c.2545A>G (p.Asn849Asp)
c.760A>G (p.Asn254Asp)
n.2896A>G
6g.52045061T>GCA364442943PKHD1c.2620A>C (p.Asn874His)
c.1909A>C (p.Asn637His)
c.2545A>C (p.Asn849His)
c.760A>C (p.Asn254His)
n.2896A>C
6g.52045062C>ACA450420496PKHD1c.2619G>T (p.Val873=)
c.1908G>T (p.Val636=)
c.2544G>T (p.Val848=)
c.759G>T (p.Val253=)
n.2895G>T
6g.52045062C>GCA450420493PKHD1c.2619G>C (p.Val873=)
c.1908G>C (p.Val636=)
c.2544G>C (p.Val848=)
c.759G>C (p.Val253=)
n.2895G>C
6g.52045062C>TCA450420494PKHD1c.2619G>A (p.Val873=)
c.1908G>A (p.Val636=)
c.2544G>A (p.Val848=)
c.759G>A (p.Val253=)
n.2895G>A
 ClinVar
6g.52045063A>CCA364442946PKHD1c.2618T>G (p.Val873Gly)
c.1907T>G (p.Val636Gly)
c.2543T>G (p.Val848Gly)
c.758T>G (p.Val253Gly)
n.2894T>G
6g.52045063A>GCA364442945PKHD1c.2618T>C (p.Val873Ala)
c.1907T>C (p.Val636Ala)
c.2543T>C (p.Val848Ala)
c.758T>C (p.Val253Ala)
n.2894T>C
6g.52045063A>TCA364442944PKHD1c.2618T>A (p.Val873Glu)
c.1907T>A (p.Val636Glu)
c.2543T>A (p.Val848Glu)
c.758T>A (p.Val253Glu)
n.2894T>A

Number of alleles fetched