Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.52044954_52044966del | CA16041065 | PKHD1 | c.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 |
6 | g.52044965C>A | CA364442742 | PKHD1 | c.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 |
6 | g.52044965C= | CA1628629491 | PKHD1 | c.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= | |
6 | g.52044965C>G | CA364442743 | PKHD1 | c.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 |
6 | g.52044965C>T | CA364442741 | PKHD1 | c.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 |
6 | g.52044966C>A | CA364442745 | PKHD1 | c.2715G>T (p.Gln905His) c.2004G>T (p.Gln668His) c.2640G>T (p.Gln880His) c.855G>T (p.Gln285His) n.2991G>T | |
6 | g.52044966C>G | CA364442744 | PKHD1 | c.2715G>C (p.Gln905His) c.2004G>C (p.Gln668His) c.2640G>C (p.Gln880His) c.855G>C (p.Gln285His) n.2991G>C | |
6 | g.52044966C>T | CA450420380 | PKHD1 | c.2715G>A (p.Gln905=) c.2004G>A (p.Gln668=) c.2640G>A (p.Gln880=) c.855G>A (p.Gln285=) n.2991G>A | gnomAD v4 |
6 | g.52044967T>A | CA364442748 | PKHD1 | c.2714A>T (p.Gln905Leu) c.2003A>T (p.Gln668Leu) c.2639A>T (p.Gln880Leu) c.854A>T (p.Gln285Leu) n.2990A>T | |
6 | g.52044967T>C | CA364442746 | PKHD1 | c.2714A>G (p.Gln905Arg) c.2003A>G (p.Gln668Arg) c.2639A>G (p.Gln880Arg) c.854A>G (p.Gln285Arg) n.2990A>G | gnomAD v4 |
6 | g.52044967T>G | CA364442747 | PKHD1 | c.2714A>C (p.Gln905Pro) c.2003A>C (p.Gln668Pro) c.2639A>C (p.Gln880Pro) c.854A>C (p.Gln285Pro) n.2990A>C | |
6 | g.52044968G>A | CA364442749 | PKHD1 | c.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 |
6 | g.52044968G>C | CA364442750 | PKHD1 | c.2713C>G (p.Gln905Glu) c.2002C>G (p.Gln668Glu) c.2638C>G (p.Gln880Glu) c.853C>G (p.Gln285Glu) n.2989C>G | gnomAD v4 |
6 | g.52044968G= | CA1628629504 | PKHD1 | c.2713C= (p.Gln905=) c.2002C= (p.Gln668=) c.2638C= (p.Gln880=) c.853C= (p.Gln285=) n.2989C= | |
6 | g.52044968G>T | CA364442751 | PKHD1 | c.2713C>A (p.Gln905Lys) c.2002C>A (p.Gln668Lys) c.2638C>A (p.Gln880Lys) c.853C>A (p.Gln285Lys) n.2989C>A | |
6 | g.52044969A>C | CA450420385 | PKHD1 | c.2712T>G (p.Thr904=) c.2001T>G (p.Thr667=) c.2637T>G (p.Thr879=) c.852T>G (p.Thr284=) n.2988T>G | |
6 | g.52044969A>G | CA450420384 | PKHD1 | c.2712T>C (p.Thr904=) c.2001T>C (p.Thr667=) c.2637T>C (p.Thr879=) c.852T>C (p.Thr284=) n.2988T>C | |
6 | g.52044969A>T | CA450420383 | PKHD1 | c.2712T>A (p.Thr904=) c.2001T>A (p.Thr667=) c.2637T>A (p.Thr879=) c.852T>A (p.Thr284=) n.2988T>A | |
6 | g.52044970G>A | CA364442752 | PKHD1 | c.2711C>T (p.Thr904Ile) c.2000C>T (p.Thr667Ile) c.2636C>T (p.Thr879Ile) c.851C>T (p.Thr284Ile) n.2987C>T | |
6 | g.52044970G>C | CA364442753 | PKHD1 | c.2711C>G (p.Thr904Ser) c.2000C>G (p.Thr667Ser) c.2636C>G (p.Thr879Ser) c.851C>G (p.Thr284Ser) n.2987C>G | |
6 | g.52044970G>T | CA364442754 | PKHD1 | c.2711C>A (p.Thr904Asn) c.2000C>A (p.Thr667Asn) c.2636C>A (p.Thr879Asn) c.851C>A (p.Thr284Asn) n.2987C>A | |
6 | g.52044971T>A | CA364442755 | PKHD1 | c.2710A>T (p.Thr904Ser) c.1999A>T (p.Thr667Ser) c.2635A>T (p.Thr879Ser) c.850A>T (p.Thr284Ser) n.2986A>T | |
6 | g.52044971T>C | CA364442756 | PKHD1 | c.2710A>G (p.Thr904Ala) c.1999A>G (p.Thr667Ala) c.2635A>G (p.Thr879Ala) c.850A>G (p.Thr284Ala) n.2986A>G | gnomAD v4 |
6 | g.52044971T>G | CA364442757 | PKHD1 | c.2710A>C (p.Thr904Pro) c.1999A>C (p.Thr667Pro) c.2635A>C (p.Thr879Pro) c.850A>C (p.Thr284Pro) n.2986A>C | |
6 | g.52044971_52044987delinsTATGCTGGTTGGCAGTA | CA1628629509 | PKHD1 | c.2694_2710delinsTACTGCCAACCAGCATA (p.Ala898=) c.1983_1999delinsTACTGCCAACCAGCATA (p.Ala661=) c.2619_2635delinsTACTGCCAACCAGCATA (p.Ala873=) c.834_850delinsTACTGCCAACCAGCATA (p.Ala278=) n.2970_2986delinsTACTGCCAACCAGCATA | |
6 | g.52044972A>C | CA364442758 | PKHD1 | c.2709T>G (p.His903Gln) c.1998T>G (p.His666Gln) c.2634T>G (p.His878Gln) c.849T>G (p.His283Gln) n.2985T>G | |
6 | g.52044972A>G | CA450420387 | PKHD1 | c.2709T>C (p.His903=) c.1998T>C (p.His666=) c.2634T>C (p.His878=) c.849T>C (p.His283=) n.2985T>C | ClinVar dbSNP |
6 | g.52044972A>T | CA364442759 | PKHD1 | c.2709T>A (p.His903Gln) c.1998T>A (p.His666Gln) c.2634T>A (p.His878Gln) c.849T>A (p.His283Gln) n.2985T>A | |
6 | g.52044972_52044987del | CA1628629514 | PKHD1 | c.2694_2709del (p.Thr899LeufsTer7) c.1983_1998del (p.Thr662LeufsTer7) c.2619_2634del (p.Thr874LeufsTer7) c.834_849del (p.Thr279LeufsTer7) n.2970_2985del | dbSNP |
6 | g.52044973T>A | CA364442762 | PKHD1 | c.2708A>T (p.His903Leu) c.1997A>T (p.His666Leu) c.2633A>T (p.His878Leu) c.848A>T (p.His283Leu) n.2984A>T | |
6 | g.52044973T>C | CA364442760 | PKHD1 | c.2708A>G (p.His903Arg) c.1997A>G (p.His666Arg) c.2633A>G (p.His878Arg) c.848A>G (p.His283Arg) n.2984A>G | dbSNP |
6 | g.52044973T>G | CA364442761 | PKHD1 | c.2708A>C (p.His903Pro) c.1997A>C (p.His666Pro) c.2633A>C (p.His878Pro) c.848A>C (p.His283Pro) n.2984A>C | |
6 | g.52044973T= | CA1628629517 | PKHD1 | c.2708A= (p.His903=) c.1997A= (p.His666=) c.2633A= (p.His878=) c.848A= (p.His283=) n.2984A= | |
6 | g.52044974G>A | CA364442763 | PKHD1 | c.2707C>T (p.His903Tyr) c.1996C>T (p.His666Tyr) c.2632C>T (p.His878Tyr) c.847C>T (p.His283Tyr) n.2983C>T | |
6 | g.52044974G>C | CA364442764 | PKHD1 | c.2707C>G (p.His903Asp) c.1996C>G (p.His666Asp) c.2632C>G (p.His878Asp) c.847C>G (p.His283Asp) n.2983C>G | |
6 | g.52044974G= | CA1628629523 | PKHD1 | c.2707C= (p.His903=) c.1996C= (p.His666=) c.2632C= (p.His878=) c.847C= (p.His283=) n.2983C= | |
6 | g.52044974G>T | CA3853144 | PKHD1 | c.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 |
6 | g.52044975C>A | CA364442765 | PKHD1 | c.2706G>T (p.Gln902His) c.1995G>T (p.Gln665His) c.2631G>T (p.Gln877His) c.846G>T (p.Gln282His) n.2982G>T | |
6 | g.52044975C= | CA1628629528 | PKHD1 | c.2706G= (p.Gln902=) c.1995G= (p.Gln665=) c.2631G= (p.Gln877=) c.846G= (p.Gln282=) n.2982G= | |
6 | g.52044975C>G | CA138963423 | PKHD1 | c.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 |
6 | g.52044975C>T | CA450420391 | PKHD1 | c.2706G>A (p.Gln902=) c.1995G>A (p.Gln665=) c.2631G>A (p.Gln877=) c.846G>A (p.Gln282=) n.2982G>A | |
6 | g.52044976T>A | CA364442766 | PKHD1 | c.2705A>T (p.Gln902Leu) c.1994A>T (p.Gln665Leu) c.2630A>T (p.Gln877Leu) c.845A>T (p.Gln282Leu) n.2981A>T | |
6 | g.52044976T>C | CA364442767 | PKHD1 | c.2705A>G (p.Gln902Arg) c.1994A>G (p.Gln665Arg) c.2630A>G (p.Gln877Arg) c.845A>G (p.Gln282Arg) n.2981A>G | gnomAD v4 |
6 | g.52044976T>G | CA364442768 | PKHD1 | c.2705A>C (p.Gln902Pro) c.1994A>C (p.Gln665Pro) c.2630A>C (p.Gln877Pro) c.845A>C (p.Gln282Pro) n.2981A>C | |
6 | g.52044977G>A | CA364442769 | PKHD1 | c.2704C>T (p.Gln902Ter) c.1993C>T (p.Gln665Ter) c.2629C>T (p.Gln877Ter) c.844C>T (p.Gln282Ter) n.2980C>T | |
6 | g.52044977G>C | CA364442770 | PKHD1 | c.2704C>G (p.Gln902Glu) c.1993C>G (p.Gln665Glu) c.2629C>G (p.Gln877Glu) c.844C>G (p.Gln282Glu) n.2980C>G | |
6 | g.52044977G>T | CA364442771 | PKHD1 | c.2704C>A (p.Gln902Lys) c.1993C>A (p.Gln665Lys) c.2629C>A (p.Gln877Lys) c.844C>A (p.Gln282Lys) n.2980C>A | |
6 | g.52044977_52044978delinsTT | CA645567084 | PKHD1 | c.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 |
6 | g.52044978G>A | CA3853145 | PKHD1 | c.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 |
6 | g.52044978G>C | CA364442773 | PKHD1 | c.2703C>G (p.Asn901Lys) c.1992C>G (p.Asn664Lys) c.2628C>G (p.Asn876Lys) c.843C>G (p.Asn281Lys) n.2979C>G | |
6 | g.52044978G= | CA1628629534 | PKHD1 | c.2703C= (p.Asn901=) c.1992C= (p.Asn664=) c.2628C= (p.Asn876=) c.843C= (p.Asn281=) n.2979C= | |
6 | g.52044978G>T | CA364442772 | PKHD1 | c.2703C>A (p.Asn901Lys) c.1992C>A (p.Asn664Lys) c.2628C>A (p.Asn876Lys) c.843C>A (p.Asn281Lys) n.2979C>A | |
6 | g.52044979T>A | CA364442774 | PKHD1 | c.2702A>T (p.Asn901Ile) c.1991A>T (p.Asn664Ile) c.2627A>T (p.Asn876Ile) c.842A>T (p.Asn281Ile) n.2978A>T | |
6 | g.52044979T>C | CA364442775 | PKHD1 | c.2702A>G (p.Asn901Ser) c.1991A>G (p.Asn664Ser) c.2627A>G (p.Asn876Ser) c.842A>G (p.Asn281Ser) n.2978A>G | |
6 | g.52044979T>G | CA3853146 | PKHD1 | c.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 |
6 | g.52044979T= | CA1628629545 | PKHD1 | c.2702A= (p.Asn901=) c.1991A= (p.Asn664=) c.2627A= (p.Asn876=) c.842A= (p.Asn281=) n.2978A= | |
6 | g.52044980T>A | CA364442776 | PKHD1 | c.2701A>T (p.Asn901Tyr) c.1990A>T (p.Asn664Tyr) c.2626A>T (p.Asn876Tyr) c.841A>T (p.Asn281Tyr) n.2977A>T | |
6 | g.52044980T>C | CA3853147 | PKHD1 | c.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 |
6 | g.52044980T>G | CA364442777 | PKHD1 | c.2701A>C (p.Asn901His) c.1990A>C (p.Asn664His) c.2626A>C (p.Asn876His) c.841A>C (p.Asn281His) n.2977A>C | |
6 | g.52044980T= | CA1628629552 | PKHD1 | c.2701A= (p.Asn901=) c.1990A= (p.Asn664=) c.2626A= (p.Asn876=) c.841A= (p.Asn281=) n.2977A= | |
6 | g.52044981G>A | CA450420394 | PKHD1 | c.2700C>T (p.Ala900=) c.1989C>T (p.Ala663=) c.2625C>T (p.Ala875=) c.840C>T (p.Ala280=) n.2976C>T | |
6 | g.52044981G>C | CA450420395 | PKHD1 | c.2700C>G (p.Ala900=) c.1989C>G (p.Ala663=) c.2625C>G (p.Ala875=) c.840C>G (p.Ala280=) n.2976C>G | |
6 | g.52044981G>T | CA450420396 | PKHD1 | c.2700C>A (p.Ala900=) c.1989C>A (p.Ala663=) c.2625C>A (p.Ala875=) c.840C>A (p.Ala280=) n.2976C>A | |
6 | g.52044982G>A | CA364442778 | PKHD1 | c.2699C>T (p.Ala900Val) c.1988C>T (p.Ala663Val) c.2624C>T (p.Ala875Val) c.839C>T (p.Ala280Val) n.2975C>T | |
6 | g.52044982G>C | CA364442779 | PKHD1 | c.2699C>G (p.Ala900Gly) c.1988C>G (p.Ala663Gly) c.2624C>G (p.Ala875Gly) c.839C>G (p.Ala280Gly) n.2975C>G | gnomAD v4 |
6 | g.52044982G>T | CA364442780 | PKHD1 | c.2699C>A (p.Ala900Asp) c.1988C>A (p.Ala663Asp) c.2624C>A (p.Ala875Asp) c.839C>A (p.Ala280Asp) n.2975C>A | |
6 | g.52044983C>A | CA364442781 | PKHD1 | c.2698G>T (p.Ala900Ser) c.1987G>T (p.Ala663Ser) c.2623G>T (p.Ala875Ser) c.838G>T (p.Ala280Ser) n.2974G>T | gnomAD v4 |
6 | g.52044983C>G | CA364442782 | PKHD1 | c.2698G>C (p.Ala900Pro) c.1987G>C (p.Ala663Pro) c.2623G>C (p.Ala875Pro) c.838G>C (p.Ala280Pro) n.2974G>C | |
6 | g.52044983C>T | CA364442783 | PKHD1 | c.2698G>A (p.Ala900Thr) c.1987G>A (p.Ala663Thr) c.2623G>A (p.Ala875Thr) c.838G>A (p.Ala280Thr) n.2974G>A | gnomAD v4 |
6 | g.52044984del | CA2679083384 | PKHD1 | c.2697del (p.Ala900ProfsTer11) c.1986del (p.Ala663ProfsTer11) c.2622del (p.Ala875ProfsTer11) c.837del (p.Ala280ProfsTer11) n.2973del | gnomAD v4 |
6 | g.52044984A= | CA1628629558 | PKHD1 | c.2697T= (p.Thr899=) c.1986T= (p.Thr662=) c.2622T= (p.Thr874=) c.837T= (p.Thr279=) n.2973T= | |
6 | g.52044984A>C | CA450420400 | PKHD1 | c.2697T>G (p.Thr899=) c.1986T>G (p.Thr662=) c.2622T>G (p.Thr874=) c.837T>G (p.Thr279=) n.2973T>G | |
6 | g.52044984A>G | CA450420401 | PKHD1 | c.2697T>C (p.Thr899=) c.1986T>C (p.Thr662=) c.2622T>C (p.Thr874=) c.837T>C (p.Thr279=) n.2973T>C | |
6 | g.52044984A>T | CA450420402 | PKHD1 | c.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 |
6 | g.52044984_52044993delinsAGTAGCCAAC | CA1628629562 | PKHD1 | c.2688_2697delinsGTTGGCTACT (p.Met896=) c.1977_1986delinsGTTGGCTACT (p.Met659=) c.2613_2622delinsGTTGGCTACT (p.Met871=) c.828_837delinsGTTGGCTACT (p.Met276=) n.2964_2973delinsGTTGGCTACT | |
6 | g.52044985G>A | CA364442785 | PKHD1 | c.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 |
6 | g.52044985G>C | CA364442786 | PKHD1 | c.2696C>G (p.Thr899Ser) c.1985C>G (p.Thr662Ser) c.2621C>G (p.Thr874Ser) c.836C>G (p.Thr279Ser) n.2972C>G | gnomAD v4 |
6 | g.52044985G= | CA1628629576 | PKHD1 | c.2696C= (p.Thr899=) c.1985C= (p.Thr662=) c.2621C= (p.Thr874=) c.836C= (p.Thr279=) n.2972C= | |
6 | g.52044985G>T | CA364442784 | PKHD1 | c.2696C>A (p.Thr899Asn) c.1985C>A (p.Thr662Asn) c.2621C>A (p.Thr874Asn) c.836C>A (p.Thr279Asn) n.2972C>A | |
6 | g.52044985_52044993delinsT | CA1139659609 | PKHD1 | c.2688_2696delinsA (p.Met896IlefsTer14) c.1977_1985delinsA (p.Met659IlefsTer14) c.2613_2621delinsA (p.Met871IlefsTer14) c.828_836delinsA (p.Met276IlefsTer14) n.2964_2972delinsA | ClinVar dbSNP |
6 | g.52044986T>A | CA364442787 | PKHD1 | c.2695A>T (p.Thr899Ser) c.1984A>T (p.Thr662Ser) c.2620A>T (p.Thr874Ser) c.835A>T (p.Thr279Ser) n.2971A>T | |
6 | g.52044986T>C | CA138963424 | PKHD1 | c.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 |
6 | g.52044986T>G | CA364442788 | PKHD1 | c.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 |
6 | g.52044986T= | CA1628629588 | PKHD1 | c.2695A= (p.Thr899=) c.1984A= (p.Thr662=) c.2620A= (p.Thr874=) c.835A= (p.Thr279=) n.2971A= | |
6 | g.52044987A>C | CA450420403 | PKHD1 | c.2694T>G (p.Ala898=) c.1983T>G (p.Ala661=) c.2619T>G (p.Ala873=) c.834T>G (p.Ala278=) n.2970T>G | |
6 | g.52044987A>G | CA450420404 | PKHD1 | c.2694T>C (p.Ala898=) c.1983T>C (p.Ala661=) c.2619T>C (p.Ala873=) c.834T>C (p.Ala278=) n.2970T>C | ClinVar |
6 | g.52044987A>T | CA450420405 | PKHD1 | c.2694T>A (p.Ala898=) c.1983T>A (p.Ala661=) c.2619T>A (p.Ala873=) c.834T>A (p.Ala278=) n.2970T>A | |
6 | g.52044988G>A | CA364442789 | PKHD1 | c.2693C>T (p.Ala898Val) c.1982C>T (p.Ala661Val) c.2618C>T (p.Ala873Val) c.833C>T (p.Ala278Val) n.2969C>T | |
6 | g.52044988G>C | CA364442790 | PKHD1 | c.2693C>G (p.Ala898Gly) c.1982C>G (p.Ala661Gly) c.2618C>G (p.Ala873Gly) c.833C>G (p.Ala278Gly) n.2969C>G | |
6 | g.52044988G>T | CA364442791 | PKHD1 | c.2693C>A (p.Ala898Asp) c.1982C>A (p.Ala661Asp) c.2618C>A (p.Ala873Asp) c.833C>A (p.Ala278Asp) n.2969C>A | |
6 | g.52044989C>A | CA364442792 | PKHD1 | c.2692G>T (p.Ala898Ser) c.1981G>T (p.Ala661Ser) c.2617G>T (p.Ala873Ser) c.832G>T (p.Ala278Ser) n.2968G>T | |
6 | g.52044989C>G | CA364442794 | PKHD1 | c.2692G>C (p.Ala898Pro) c.1981G>C (p.Ala661Pro) c.2617G>C (p.Ala873Pro) c.832G>C (p.Ala278Pro) n.2968G>C | |
6 | g.52044989C>T | CA364442793 | PKHD1 | c.2692G>A (p.Ala898Thr) c.1981G>A (p.Ala661Thr) c.2617G>A (p.Ala873Thr) c.832G>A (p.Ala278Thr) n.2968G>A | |
6 | g.52044990C>A | CA364442795 | PKHD1 | c.2691G>T (p.Leu897Phe) c.1980G>T (p.Leu660Phe) c.2616G>T (p.Leu872Phe) c.831G>T (p.Leu277Phe) n.2967G>T | |
6 | g.52044990C= | CA1628629598 | PKHD1 | c.2691G= (p.Leu897=) c.1980G= (p.Leu660=) c.2616G= (p.Leu872=) c.831G= (p.Leu277=) n.2967G= | |
6 | g.52044990C>G | CA364442796 | PKHD1 | c.2691G>C (p.Leu897Phe) c.1980G>C (p.Leu660Phe) c.2616G>C (p.Leu872Phe) c.831G>C (p.Leu277Phe) n.2967G>C | |
6 | g.52044990C>T | CA450420406 | PKHD1 | c.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 |
6 | g.52044991A>C | CA364442797 | PKHD1 | c.2690T>G (p.Leu897Trp) c.1979T>G (p.Leu660Trp) c.2615T>G (p.Leu872Trp) c.830T>G (p.Leu277Trp) n.2966T>G | |
6 | g.52044991A>G | CA364442798 | PKHD1 | c.2690T>C (p.Leu897Ser) c.1979T>C (p.Leu660Ser) c.2615T>C (p.Leu872Ser) c.830T>C (p.Leu277Ser) n.2966T>C | |
6 | g.52044991A>T | CA364442799 | PKHD1 | c.2690T>A (p.Leu897Ter) c.1979T>A (p.Leu660Ter) c.2615T>A (p.Leu872Ter) c.830T>A (p.Leu277Ter) n.2966T>A | |
6 | g.52044992A>C | CA364442801 | PKHD1 | c.2689T>G (p.Leu897Val) c.1978T>G (p.Leu660Val) c.2614T>G (p.Leu872Val) c.829T>G (p.Leu277Val) n.2965T>G | |
6 | g.52044992A>G | CA450420408 | PKHD1 | c.2689T>C (p.Leu897=) c.1978T>C (p.Leu660=) c.2614T>C (p.Leu872=) c.829T>C (p.Leu277=) n.2965T>C | gnomAD v4 |
6 | g.52044992A>T | CA364442800 | PKHD1 | c.2689T>A (p.Leu897Met) c.1978T>A (p.Leu660Met) c.2614T>A (p.Leu872Met) c.829T>A (p.Leu277Met) n.2965T>A | |
6 | g.52044993C>A | CA364442802 | PKHD1 | c.2688G>T (p.Met896Ile) c.1977G>T (p.Met659Ile) c.2613G>T (p.Met871Ile) c.828G>T (p.Met276Ile) n.2964G>T | |
6 | g.52044993C>G | CA364442804 | PKHD1 | c.2688G>C (p.Met896Ile) c.1977G>C (p.Met659Ile) c.2613G>C (p.Met871Ile) c.828G>C (p.Met276Ile) n.2964G>C | |
6 | g.52044993C>T | CA364442803 | PKHD1 | c.2688G>A (p.Met896Ile) c.1977G>A (p.Met659Ile) c.2613G>A (p.Met871Ile) c.828G>A (p.Met276Ile) n.2964G>A | |
6 | g.52044994A>C | CA364442805 | PKHD1 | c.2687T>G (p.Met896Arg) c.1976T>G (p.Met659Arg) c.2612T>G (p.Met871Arg) c.827T>G (p.Met276Arg) n.2963T>G | |
6 | g.52044994A>G | CA364442806 | PKHD1 | c.2687T>C (p.Met896Thr) c.1976T>C (p.Met659Thr) c.2612T>C (p.Met871Thr) c.827T>C (p.Met276Thr) n.2963T>C | |
6 | g.52044994A>T | CA364442807 | PKHD1 | c.2687T>A (p.Met896Lys) c.1976T>A (p.Met659Lys) c.2612T>A (p.Met871Lys) c.827T>A (p.Met276Lys) n.2963T>A | |
6 | g.52044995T>A | CA3853148 | PKHD1 | c.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 |
6 | g.52044995T>C | CA364442808 | PKHD1 | c.2686A>G (p.Met896Val) c.1975A>G (p.Met659Val) c.2611A>G (p.Met871Val) c.826A>G (p.Met276Val) n.2962A>G | |
6 | g.52044995T>G | CA364442809 | PKHD1 | c.2686A>C (p.Met896Leu) c.1975A>C (p.Met659Leu) c.2611A>C (p.Met871Leu) c.826A>C (p.Met276Leu) n.2962A>C | |
6 | g.52044995T= | CA1628629605 | PKHD1 | c.2686A= (p.Met896=) c.1975A= (p.Met659=) c.2611A= (p.Met871=) c.826A= (p.Met276=) n.2962A= | |
6 | g.52044996G>A | CA450420409 | PKHD1 | c.2685C>T (p.Asp895=) c.1974C>T (p.Asp658=) c.2610C>T (p.Asp870=) c.825C>T (p.Asp275=) n.2961C>T | |
6 | g.52044996G>C | CA364442811 | PKHD1 | c.2685C>G (p.Asp895Glu) c.1974C>G (p.Asp658Glu) c.2610C>G (p.Asp870Glu) c.825C>G (p.Asp275Glu) n.2961C>G | |
6 | g.52044996G>T | CA364442810 | PKHD1 | c.2685C>A (p.Asp895Glu) c.1974C>A (p.Asp658Glu) c.2610C>A (p.Asp870Glu) c.825C>A (p.Asp275Glu) n.2961C>A | |
6 | g.52044997T>A | CA364442812 | PKHD1 | c.2684A>T (p.Asp895Val) c.1973A>T (p.Asp658Val) c.2609A>T (p.Asp870Val) c.824A>T (p.Asp275Val) n.2960A>T | |
6 | g.52044997T>C | CA364442813 | PKHD1 | c.2684A>G (p.Asp895Gly) c.1973A>G (p.Asp658Gly) c.2609A>G (p.Asp870Gly) c.824A>G (p.Asp275Gly) n.2960A>G | |
6 | g.52044997T>G | CA364442814 | PKHD1 | c.2684A>C (p.Asp895Ala) c.1973A>C (p.Asp658Ala) c.2609A>C (p.Asp870Ala) c.824A>C (p.Asp275Ala) n.2960A>C | |
6 | g.52044998C>A | CA364442815 | PKHD1 | c.2683G>T (p.Asp895Tyr) c.1972G>T (p.Asp658Tyr) c.2608G>T (p.Asp870Tyr) c.823G>T (p.Asp275Tyr) n.2959G>T | |
6 | g.52044998C= | CA1628629607 | PKHD1 | c.2683G= (p.Asp895=) c.1972G= (p.Asp658=) c.2608G= (p.Asp870=) c.823G= (p.Asp275=) n.2959G= | |
6 | g.52044998C>G | CA364442816 | PKHD1 | c.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 |
6 | g.52044998C>T | CA364442817 | PKHD1 | c.2683G>A (p.Asp895Asn) c.1972G>A (p.Asp658Asn) c.2608G>A (p.Asp870Asn) c.823G>A (p.Asp275Asn) n.2959G>A | |
6 | g.52044999T>A | CA450420414 | PKHD1 | c.2682A>T (p.Gly894=) c.1971A>T (p.Gly657=) c.2607A>T (p.Gly869=) c.822A>T (p.Gly274=) n.2958A>T | |
6 | g.52044999T>C | CA450420411 | PKHD1 | c.2682A>G (p.Gly894=) c.1971A>G (p.Gly657=) c.2607A>G (p.Gly869=) c.822A>G (p.Gly274=) n.2958A>G | gnomAD v4 |
6 | g.52044999T>G | CA450420412 | PKHD1 | c.2682A>C (p.Gly894=) c.1971A>C (p.Gly657=) c.2607A>C (p.Gly869=) c.822A>C (p.Gly274=) n.2958A>C | |
6 | g.52045000C>A | CA3853149 | PKHD1 | c.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 |
6 | g.52045000C= | CA1628629610 | PKHD1 | c.2681G= (p.Gly894=) c.1970G= (p.Gly657=) c.2606G= (p.Gly869=) c.821G= (p.Gly274=) n.2957G= | |
6 | g.52045000C>G | CA364442819 | PKHD1 | c.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 |
6 | g.52045000C>T | CA364442818 | PKHD1 | c.2681G>A (p.Gly894Glu) c.1970G>A (p.Gly657Glu) c.2606G>A (p.Gly869Glu) c.821G>A (p.Gly274Glu) n.2957G>A | gnomAD v4 |
6 | g.52045001del | CA2695198873 | PKHD1 | c.2681del (p.Gly894GlufsTer17) c.1970del (p.Gly657GlufsTer17) c.2606del (p.Gly869GlufsTer17) c.821del (p.Gly274GlufsTer17) n.2957del | ClinVar |
6 | g.52045001C>A | CA364442820 | PKHD1 | c.2680G>T (p.Gly894Ter) c.1969G>T (p.Gly657Ter) c.2605G>T (p.Gly869Ter) c.820G>T (p.Gly274Ter) n.2956G>T | |
6 | g.52045001C= | CA1628629617 | PKHD1 | c.2680G= (p.Gly894=) c.1969G= (p.Gly657=) c.2605G= (p.Gly869=) c.820G= (p.Gly274=) n.2956G= | |
6 | g.52045001C>G | CA364442821 | PKHD1 | c.2680G>C (p.Gly894Arg) c.1969G>C (p.Gly657Arg) c.2605G>C (p.Gly869Arg) c.820G>C (p.Gly274Arg) n.2956G>C | |
6 | g.52045001C>T | CA364442822 | PKHD1 | c.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 |
6 | g.52045002A= | CA1628629624 | PKHD1 | c.2679T= (p.Phe893=) c.1968T= (p.Phe656=) c.2604T= (p.Phe868=) c.819T= (p.Phe273=) n.2955T= | |
6 | g.52045002A>C | CA364442823 | PKHD1 | c.2679T>G (p.Phe893Leu) c.1968T>G (p.Phe656Leu) c.2604T>G (p.Phe868Leu) c.819T>G (p.Phe273Leu) n.2955T>G | |
6 | g.52045002A>G | CA450420416 | PKHD1 | c.2679T>C (p.Phe893=) c.1968T>C (p.Phe656=) c.2604T>C (p.Phe868=) c.819T>C (p.Phe273=) n.2955T>C | ClinVar dbSNP |
6 | g.52045002A>T | CA364442824 | PKHD1 | c.2679T>A (p.Phe893Leu) c.1968T>A (p.Phe656Leu) c.2604T>A (p.Phe868Leu) c.819T>A (p.Phe273Leu) n.2955T>A | |
6 | g.52045003A>C | CA364442825 | PKHD1 | c.2678T>G (p.Phe893Cys) c.1967T>G (p.Phe656Cys) c.2603T>G (p.Phe868Cys) c.818T>G (p.Phe273Cys) n.2954T>G | gnomAD v4 |
6 | g.52045003A>G | CA364442826 | PKHD1 | c.2678T>C (p.Phe893Ser) c.1967T>C (p.Phe656Ser) c.2603T>C (p.Phe868Ser) c.818T>C (p.Phe273Ser) n.2954T>C | gnomAD v4 |
6 | g.52045003A>T | CA364442827 | PKHD1 | c.2678T>A (p.Phe893Tyr) c.1967T>A (p.Phe656Tyr) c.2603T>A (p.Phe868Tyr) c.818T>A (p.Phe273Tyr) n.2954T>A | |
6 | g.52045004A>C | CA364442828 | PKHD1 | c.2677T>G (p.Phe893Val) c.1966T>G (p.Phe656Val) c.2602T>G (p.Phe868Val) c.817T>G (p.Phe273Val) n.2953T>G | |
6 | g.52045004A>G | CA364442829 | PKHD1 | c.2677T>C (p.Phe893Leu) c.1966T>C (p.Phe656Leu) c.2602T>C (p.Phe868Leu) c.817T>C (p.Phe273Leu) n.2953T>C | gnomAD v4 |
6 | g.52045004A>T | CA364442830 | PKHD1 | c.2677T>A (p.Phe893Ile) c.1966T>A (p.Phe656Ile) c.2602T>A (p.Phe868Ile) c.817T>A (p.Phe273Ile) n.2953T>A | |
6 | g.52045005T>A | CA450420421 | PKHD1 | c.2676A>T (p.Ile892=) c.1965A>T (p.Ile655=) c.2601A>T (p.Ile867=) c.816A>T (p.Ile272=) n.2952A>T | |
6 | g.52045005T>C | CA364442831 | PKHD1 | c.2676A>G (p.Ile892Met) c.1965A>G (p.Ile655Met) c.2601A>G (p.Ile867Met) c.816A>G (p.Ile272Met) n.2952A>G | |
6 | g.52045005T>G | CA450420420 | PKHD1 | c.2676A>C (p.Ile892=) c.1965A>C (p.Ile655=) c.2601A>C (p.Ile867=) c.816A>C (p.Ile272=) n.2952A>C | |
6 | g.52045006A>C | CA364442834 | PKHD1 | c.2675T>G (p.Ile892Arg) c.1964T>G (p.Ile655Arg) c.2600T>G (p.Ile867Arg) c.815T>G (p.Ile272Arg) n.2951T>G | |
6 | g.52045006A>G | CA364442832 | PKHD1 | c.2675T>C (p.Ile892Thr) c.1964T>C (p.Ile655Thr) c.2600T>C (p.Ile867Thr) c.815T>C (p.Ile272Thr) n.2951T>C | gnomAD v4 |
6 | g.52045006A>T | CA364442833 | PKHD1 | c.2675T>A (p.Ile892Lys) c.1964T>A (p.Ile655Lys) c.2600T>A (p.Ile867Lys) c.815T>A (p.Ile272Lys) n.2951T>A | |
6 | g.52045007T>A | CA364442835 | PKHD1 | c.2674A>T (p.Ile892Leu) c.1963A>T (p.Ile655Leu) c.2599A>T (p.Ile867Leu) c.814A>T (p.Ile272Leu) n.2950A>T | |
6 | g.52045007T>C | CA364442836 | PKHD1 | c.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 |
6 | g.52045007T>G | CA364442837 | PKHD1 | c.2674A>C (p.Ile892Leu) c.1963A>C (p.Ile655Leu) c.2599A>C (p.Ile867Leu) c.814A>C (p.Ile272Leu) n.2950A>C | |
6 | g.52045007T= | CA1628629630 | PKHD1 | c.2674A= (p.Ile892=) c.1963A= (p.Ile655=) c.2599A= (p.Ile867=) c.814A= (p.Ile272=) n.2950A= | |
6 | g.52045008G>A | CA450420425 | PKHD1 | c.2673C>T (p.Pro891=) c.1962C>T (p.Pro654=) c.2598C>T (p.Pro866=) c.813C>T (p.Pro271=) n.2949C>T | |
6 | g.52045008G>C | CA450420426 | PKHD1 | c.2673C>G (p.Pro891=) c.1962C>G (p.Pro654=) c.2598C>G (p.Pro866=) c.813C>G (p.Pro271=) n.2949C>G | |
6 | g.52045008G>T | CA450420427 | PKHD1 | c.2673C>A (p.Pro891=) c.1962C>A (p.Pro654=) c.2598C>A (p.Pro866=) c.813C>A (p.Pro271=) n.2949C>A | |
6 | g.52045009G>A | CA364442838 | PKHD1 | c.2672C>T (p.Pro891Leu) c.1961C>T (p.Pro654Leu) c.2597C>T (p.Pro866Leu) c.812C>T (p.Pro271Leu) n.2948C>T | |
6 | g.52045009G>C | CA364442839 | PKHD1 | c.2672C>G (p.Pro891Arg) c.1961C>G (p.Pro654Arg) c.2597C>G (p.Pro866Arg) c.812C>G (p.Pro271Arg) n.2948C>G | |
6 | g.52045009G>T | CA364442840 | PKHD1 | c.2672C>A (p.Pro891His) c.1961C>A (p.Pro654His) c.2597C>A (p.Pro866His) c.812C>A (p.Pro271His) n.2948C>A | |
6 | g.52045010G>A | CA138963438 | PKHD1 | c.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 |
6 | g.52045010G>C | CA364442842 | PKHD1 | c.2671C>G (p.Pro891Ala) c.1960C>G (p.Pro654Ala) c.2596C>G (p.Pro866Ala) c.811C>G (p.Pro271Ala) n.2947C>G | |
6 | g.52045010G= | CA1628629635 | PKHD1 | c.2671C= (p.Pro891=) c.1960C= (p.Pro654=) c.2596C= (p.Pro866=) c.811C= (p.Pro271=) n.2947C= | |
6 | g.52045010G>T | CA364442841 | PKHD1 | c.2671C>A (p.Pro891Thr) c.1960C>A (p.Pro654Thr) c.2596C>A (p.Pro866Thr) c.811C>A (p.Pro271Thr) n.2947C>A | |
6 | g.52045011T>A | CA3853150 | PKHD1 | c.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 |
6 | g.52045011T>C | CA450420428 | PKHD1 | c.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 |
6 | g.52045011T>G | CA450420429 | PKHD1 | c.2670A>C (p.Gly890=) c.1959A>C (p.Gly653=) c.2595A>C (p.Gly865=) c.810A>C (p.Gly270=) n.2946A>C | |
6 | g.52045011T= | CA1628629638 | PKHD1 | c.2670A= (p.Gly890=) c.1959A= (p.Gly653=) c.2595A= (p.Gly865=) c.810A= (p.Gly270=) n.2946A= | |
6 | g.52045012C>A | CA364442843 | PKHD1 | c.2669G>T (p.Gly890Val) c.1958G>T (p.Gly653Val) c.2594G>T (p.Gly865Val) c.809G>T (p.Gly270Val) n.2945G>T | gnomAD v4 |
6 | g.52045012C>G | CA364442844 | PKHD1 | c.2669G>C (p.Gly890Ala) c.1958G>C (p.Gly653Ala) c.2594G>C (p.Gly865Ala) c.809G>C (p.Gly270Ala) n.2945G>C | |
6 | g.52045012C>T | CA364442845 | PKHD1 | c.2669G>A (p.Gly890Glu) c.1958G>A (p.Gly653Glu) c.2594G>A (p.Gly865Glu) c.809G>A (p.Gly270Glu) n.2945G>A | |
6 | g.52045013C>A | CA364442846 | PKHD1 | c.2668G>T (p.Gly890Ter) c.1957G>T (p.Gly653Ter) c.2593G>T (p.Gly865Ter) c.808G>T (p.Gly270Ter) n.2944G>T | |
6 | g.52045013C>G | CA364442848 | PKHD1 | c.2668G>C (p.Gly890Arg) c.1957G>C (p.Gly653Arg) c.2593G>C (p.Gly865Arg) c.808G>C (p.Gly270Arg) n.2944G>C | |
6 | g.52045013C>T | CA364442847 | PKHD1 | c.2668G>A (p.Gly890Arg) c.1957G>A (p.Gly653Arg) c.2593G>A (p.Gly865Arg) c.808G>A (p.Gly270Arg) n.2944G>A | |
6 | g.52045014A= | CA1628629655 | PKHD1 | c.2667T= (p.Leu889=) c.1956T= (p.Leu652=) c.2592T= (p.Leu864=) c.807T= (p.Leu269=) n.2943T= | |
6 | g.52045014A>C | CA450420431 | PKHD1 | c.2667T>G (p.Leu889=) c.1956T>G (p.Leu652=) c.2592T>G (p.Leu864=) c.807T>G (p.Leu269=) n.2943T>G | |
6 | g.52045014A>G | CA138963447 | PKHD1 | c.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 |
6 | g.52045014A>T | CA450420432 | PKHD1 | c.2667T>A (p.Leu889=) c.1956T>A (p.Leu652=) c.2592T>A (p.Leu864=) c.807T>A (p.Leu269=) n.2943T>A | |
6 | g.52045015A>C | CA364442849 | PKHD1 | c.2666T>G (p.Leu889Arg) c.1955T>G (p.Leu652Arg) c.2591T>G (p.Leu864Arg) c.806T>G (p.Leu269Arg) n.2942T>G | |
6 | g.52045015A>G | CA364442850 | PKHD1 | c.2666T>C (p.Leu889Pro) c.1955T>C (p.Leu652Pro) c.2591T>C (p.Leu864Pro) c.806T>C (p.Leu269Pro) n.2942T>C | |
6 | g.52045015A>T | CA364442851 | PKHD1 | c.2666T>A (p.Leu889His) c.1955T>A (p.Leu652His) c.2591T>A (p.Leu864His) c.806T>A (p.Leu269His) n.2942T>A | |
6 | g.52045016G>A | CA364442852 | PKHD1 | c.2665C>T (p.Leu889Phe) c.1954C>T (p.Leu652Phe) c.2590C>T (p.Leu864Phe) c.805C>T (p.Leu269Phe) n.2941C>T | |
6 | g.52045016G>C | CA364442853 | PKHD1 | c.2665C>G (p.Leu889Val) c.1954C>G (p.Leu652Val) c.2590C>G (p.Leu864Val) c.805C>G (p.Leu269Val) n.2941C>G | |
6 | g.52045016G>T | CA364442854 | PKHD1 | c.2665C>A (p.Leu889Ile) c.1954C>A (p.Leu652Ile) c.2590C>A (p.Leu864Ile) c.805C>A (p.Leu269Ile) n.2941C>A | |
6 | g.52045017A>C | CA364442855 | PKHD1 | c.2664T>G (p.Phe888Leu) c.1953T>G (p.Phe651Leu) c.2589T>G (p.Phe863Leu) c.804T>G (p.Phe268Leu) n.2940T>G | |
6 | g.52045017A>G | CA450420433 | PKHD1 | c.2664T>C (p.Phe888=) c.1953T>C (p.Phe651=) c.2589T>C (p.Phe863=) c.804T>C (p.Phe268=) n.2940T>C | |
6 | g.52045017A>T | CA364442856 | PKHD1 | c.2664T>A (p.Phe888Leu) c.1953T>A (p.Phe651Leu) c.2589T>A (p.Phe863Leu) c.804T>A (p.Phe268Leu) n.2940T>A | |
6 | g.52045021dup | CA645567085 | PKHD1 | c.2664dup (p.Leu889SerfsTer24) c.1953dup (p.Leu652SerfsTer24) c.2589dup (p.Leu864SerfsTer24) c.804dup (p.Leu269SerfsTer24) n.2940dup | COSMIC |
6 | g.52045021del | CA2499218379 | PKHD1 | c.2664del (p.Gly890AspfsTer21) c.1953del (p.Gly653AspfsTer21) c.2589del (p.Gly865AspfsTer21) c.804del (p.Gly270AspfsTer21) n.2940del | ClinVar dbSNP |
6 | g.52045017_52045018insT | CA450420434 | PKHD1 | c.2663_2664insA (p.Phe888LeufsTer25) c.1952_1953insA (p.Phe651LeufsTer25) c.2588_2589insA (p.Phe863LeufsTer25) c.803_804insA (p.Phe268LeufsTer25) n.2939_2940insA | |
6 | g.52045018A= | CA1628629659 | PKHD1 | c.2663T= (p.Phe888=) c.1952T= (p.Phe651=) c.2588T= (p.Phe863=) c.803T= (p.Phe268=) n.2939T= | |
6 | g.52045018A>C | CA364442857 | PKHD1 | c.2663T>G (p.Phe888Cys) c.1952T>G (p.Phe651Cys) c.2588T>G (p.Phe863Cys) c.803T>G (p.Phe268Cys) n.2939T>G | |
6 | g.52045018A>G | CA364442858 | PKHD1 | c.2663T>C (p.Phe888Ser) c.1952T>C (p.Phe651Ser) c.2588T>C (p.Phe863Ser) c.803T>C (p.Phe268Ser) n.2939T>C | |
6 | g.52045018A>T | CA364442859 | PKHD1 | c.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 |
6 | g.52045019A>C | CA364442860 | PKHD1 | c.2662T>G (p.Phe888Val) c.1951T>G (p.Phe651Val) c.2587T>G (p.Phe863Val) c.802T>G (p.Phe268Val) n.2938T>G | |
6 | g.52045019A>G | CA364442862 | PKHD1 | c.2662T>C (p.Phe888Leu) c.1951T>C (p.Phe651Leu) c.2587T>C (p.Phe863Leu) c.802T>C (p.Phe268Leu) n.2938T>C | |
6 | g.52045019A>T | CA364442861 | PKHD1 | c.2662T>A (p.Phe888Ile) c.1951T>A (p.Phe651Ile) c.2587T>A (p.Phe863Ile) c.802T>A (p.Phe268Ile) n.2938T>A | |
6 | g.52045020A>C | CA450420440 | PKHD1 | c.2661T>G (p.Val887=) c.1950T>G (p.Val650=) c.2586T>G (p.Val862=) c.801T>G (p.Val267=) n.2937T>G | |
6 | g.52045020A>G | CA450420439 | PKHD1 | c.2661T>C (p.Val887=) c.1950T>C (p.Val650=) c.2586T>C (p.Val862=) c.801T>C (p.Val267=) n.2937T>C | |
6 | g.52045020A>T | CA450420438 | PKHD1 | c.2661T>A (p.Val887=) c.1950T>A (p.Val650=) c.2586T>A (p.Val862=) c.801T>A (p.Val267=) n.2937T>A | |
6 | g.52045021A>C | CA364442863 | PKHD1 | c.2660T>G (p.Val887Gly) c.1949T>G (p.Val650Gly) c.2585T>G (p.Val862Gly) c.800T>G (p.Val267Gly) n.2936T>G | |
6 | g.52045021A>G | CA364442865 | PKHD1 | c.2660T>C (p.Val887Ala) c.1949T>C (p.Val650Ala) c.2585T>C (p.Val862Ala) c.800T>C (p.Val267Ala) n.2936T>C | |
6 | g.52045021A>T | CA364442864 | PKHD1 | c.2660T>A (p.Val887Asp) c.1949T>A (p.Val650Asp) c.2585T>A (p.Val862Asp) c.800T>A (p.Val267Asp) n.2936T>A | gnomAD v4 |
6 | g.52045022C>A | CA364442866 | PKHD1 | c.2659G>T (p.Val887Phe) c.1948G>T (p.Val650Phe) c.2584G>T (p.Val862Phe) c.799G>T (p.Val267Phe) n.2935G>T | |
6 | g.52045022C>G | CA364442868 | PKHD1 | c.2659G>C (p.Val887Leu) c.1948G>C (p.Val650Leu) c.2584G>C (p.Val862Leu) c.799G>C (p.Val267Leu) n.2935G>C | |
6 | g.52045022C>T | CA364442867 | PKHD1 | c.2659G>A (p.Val887Ile) c.1948G>A (p.Val650Ile) c.2584G>A (p.Val862Ile) c.799G>A (p.Val267Ile) n.2935G>A | |
6 | g.52045023T>A | CA450420442 | PKHD1 | c.2658A>T (p.Gly886=) c.1947A>T (p.Gly649=) c.2583A>T (p.Gly861=) c.798A>T (p.Gly266=) n.2934A>T | |
6 | g.52045023T>C | CA450420443 | PKHD1 | c.2658A>G (p.Gly886=) c.1947A>G (p.Gly649=) c.2583A>G (p.Gly861=) c.798A>G (p.Gly266=) n.2934A>G | |
6 | g.52045023T>G | CA450420444 | PKHD1 | c.2658A>C (p.Gly886=) c.1947A>C (p.Gly649=) c.2583A>C (p.Gly861=) c.798A>C (p.Gly266=) n.2934A>C | |
6 | g.52045024C>A | CA364442869 | PKHD1 | c.2657G>T (p.Gly886Val) c.1946G>T (p.Gly649Val) c.2582G>T (p.Gly861Val) c.797G>T (p.Gly266Val) n.2933G>T | |
6 | g.52045024C>G | CA364442870 | PKHD1 | c.2657G>C (p.Gly886Ala) c.1946G>C (p.Gly649Ala) c.2582G>C (p.Gly861Ala) c.797G>C (p.Gly266Ala) n.2933G>C | |
6 | g.52045024C>T | CA364442871 | PKHD1 | c.2657G>A (p.Gly886Glu) c.1946G>A (p.Gly649Glu) c.2582G>A (p.Gly861Glu) c.797G>A (p.Gly266Glu) n.2933G>A | gnomAD v4 |
6 | g.52045025C>A | CA364442872 | PKHD1 | c.2656G>T (p.Gly886Ter) c.1945G>T (p.Gly649Ter) c.2581G>T (p.Gly861Ter) c.796G>T (p.Gly266Ter) n.2932G>T | |
6 | g.52045025C>G | CA364442873 | PKHD1 | c.2656G>C (p.Gly886Arg) c.1945G>C (p.Gly649Arg) c.2581G>C (p.Gly861Arg) c.796G>C (p.Gly266Arg) n.2932G>C | |
6 | g.52045025C>T | CA364442874 | PKHD1 | c.2656G>A (p.Gly886Arg) c.1945G>A (p.Gly649Arg) c.2581G>A (p.Gly861Arg) c.796G>A (p.Gly266Arg) n.2932G>A | gnomAD v4 |
6 | g.52045026A= | CA1628629662 | PKHD1 | c.2655T= (p.Gly885=) c.1944T= (p.Gly648=) c.2580T= (p.Gly860=) c.795T= (p.Gly265=) n.2931T= | |
6 | g.52045026A>C | CA450420445 | PKHD1 | c.2655T>G (p.Gly885=) c.1944T>G (p.Gly648=) c.2580T>G (p.Gly860=) c.795T>G (p.Gly265=) n.2931T>G | |
6 | g.52045026A>G | CA138963470 | PKHD1 | c.2655T>C (p.Gly885=) c.1944T>C (p.Gly648=) c.2580T>C (p.Gly860=) c.795T>C (p.Gly265=) n.2931T>C | dbSNP |
6 | g.52045026A>T | CA450420448 | PKHD1 | c.2655T>A (p.Gly885=) c.1944T>A (p.Gly648=) c.2580T>A (p.Gly860=) c.795T>A (p.Gly265=) n.2931T>A | |
6 | g.52045027C>A | CA364442875 | PKHD1 | c.2654G>T (p.Gly885Val) c.1943G>T (p.Gly648Val) c.2579G>T (p.Gly860Val) c.794G>T (p.Gly265Val) n.2930G>T | |
6 | g.52045027C= | CA1628629675 | PKHD1 | c.2654G= (p.Gly885=) c.1943G= (p.Gly648=) c.2579G= (p.Gly860=) c.794G= (p.Gly265=) n.2930G= | |
6 | g.52045027C>G | CA364442876 | PKHD1 | c.2654G>C (p.Gly885Ala) c.1943G>C (p.Gly648Ala) c.2579G>C (p.Gly860Ala) c.794G>C (p.Gly265Ala) n.2930G>C | |
6 | g.52045027C>T | CA364442877 | PKHD1 | c.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 |
6 | g.52045028C>A | CA364442878 | PKHD1 | c.2653G>T (p.Gly885Cys) c.1942G>T (p.Gly648Cys) c.2578G>T (p.Gly860Cys) c.793G>T (p.Gly265Cys) n.2929G>T | |
6 | g.52045028C= | CA1628629682 | PKHD1 | c.2653G= (p.Gly885=) c.1942G= (p.Gly648=) c.2578G= (p.Gly860=) c.793G= (p.Gly265=) n.2929G= | |
6 | g.52045028C>G | CA364442879 | PKHD1 | c.2653G>C (p.Gly885Arg) c.1942G>C (p.Gly648Arg) c.2578G>C (p.Gly860Arg) c.793G>C (p.Gly265Arg) n.2929G>C | |
6 | g.52045028C>T | CA3853151 | PKHD1 | c.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 |
6 | g.52045029A>C | CA364442880 | PKHD1 | c.2652T>G (p.Asp884Glu) c.1941T>G (p.Asp647Glu) c.2577T>G (p.Asp859Glu) c.792T>G (p.Asp264Glu) n.2928T>G | |
6 | g.52045029A>G | CA450420449 | PKHD1 | c.2652T>C (p.Asp884=) c.1941T>C (p.Asp647=) c.2577T>C (p.Asp859=) c.792T>C (p.Asp264=) n.2928T>C | |
6 | g.52045029A>T | CA364442881 | PKHD1 | c.2652T>A (p.Asp884Glu) c.1941T>A (p.Asp647Glu) c.2577T>A (p.Asp859Glu) c.792T>A (p.Asp264Glu) n.2928T>A | |
6 | g.52045030T>A | CA364442882 | PKHD1 | c.2651A>T (p.Asp884Val) c.1940A>T (p.Asp647Val) c.2576A>T (p.Asp859Val) c.791A>T (p.Asp264Val) n.2927A>T | |
6 | g.52045030T>C | CA364442883 | PKHD1 | c.2651A>G (p.Asp884Gly) c.1940A>G (p.Asp647Gly) c.2576A>G (p.Asp859Gly) c.791A>G (p.Asp264Gly) n.2927A>G | |
6 | g.52045030T>G | CA364442884 | PKHD1 | c.2651A>C (p.Asp884Ala) c.1940A>C (p.Asp647Ala) c.2576A>C (p.Asp859Ala) c.791A>C (p.Asp264Ala) n.2927A>C | |
6 | g.52045031C>A | CA364442885 | PKHD1 | c.2650G>T (p.Asp884Tyr) c.1939G>T (p.Asp647Tyr) c.2575G>T (p.Asp859Tyr) c.790G>T (p.Asp264Tyr) n.2926G>T | |
6 | g.52045031C>G | CA364442886 | PKHD1 | c.2650G>C (p.Asp884His) c.1939G>C (p.Asp647His) c.2575G>C (p.Asp859His) c.790G>C (p.Asp264His) n.2926G>C | |
6 | g.52045031C>T | CA364442887 | PKHD1 | c.2650G>A (p.Asp884Asn) c.1939G>A (p.Asp647Asn) c.2575G>A (p.Asp859Asn) c.790G>A (p.Asp264Asn) n.2926G>A | |
6 | g.52045031_52045033delinsCAT | CA1628629698 | PKHD1 | c.2648_2650delinsATG (p.Tyr883=) c.1937_1939delinsATG (p.Tyr646=) c.2573_2575delinsATG (p.Tyr858=) c.788_790delinsATG (p.Tyr263=) n.2924_2926delinsATG | |
6 | g.52045032A= | CA1628629700 | PKHD1 | c.2649T= (p.Tyr883=) c.1938T= (p.Tyr646=) c.2574T= (p.Tyr858=) c.789T= (p.Tyr263=) n.2925T= | |
6 | g.52045032A>C | CA364442888 | PKHD1 | c.2649T>G (p.Tyr883Ter) c.1938T>G (p.Tyr646Ter) c.2574T>G (p.Tyr858Ter) c.789T>G (p.Tyr263Ter) n.2925T>G | |
6 | g.52045032A>G | CA450420452 | PKHD1 | c.2649T>C (p.Tyr883=) c.1938T>C (p.Tyr646=) c.2574T>C (p.Tyr858=) c.789T>C (p.Tyr263=) n.2925T>C | |
6 | g.52045032A>T | CA364442889 | PKHD1 | c.2649T>A (p.Tyr883Ter) c.1938T>A (p.Tyr646Ter) c.2574T>A (p.Tyr858Ter) c.789T>A (p.Tyr263Ter) n.2925T>A | dbSNP |
6 | g.52045035_52045036dup | CA3853152 | PKHD1 | c.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 |
6 | g.52045035_52045036del | CA1628629701 | PKHD1 | c.2648_2649del (p.Tyr883Ter) c.1937_1938del (p.Tyr646Ter) c.2573_2574del (p.Tyr858Ter) c.788_789del (p.Tyr263Ter) n.2924_2925del | ClinVar dbSNP |
6 | g.52045033T>A | CA364442890 | PKHD1 | c.2648A>T (p.Tyr883Phe) c.1937A>T (p.Tyr646Phe) c.2573A>T (p.Tyr858Phe) c.788A>T (p.Tyr263Phe) n.2924A>T | |
6 | g.52045033T>C | CA364442891 | PKHD1 | c.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 |
6 | g.52045033T>G | CA364442892 | PKHD1 | c.2648A>C (p.Tyr883Ser) c.1937A>C (p.Tyr646Ser) c.2573A>C (p.Tyr858Ser) c.788A>C (p.Tyr263Ser) n.2924A>C | |
6 | g.52045033T= | CA1628629707 | PKHD1 | c.2648A= (p.Tyr883=) c.1937A= (p.Tyr646=) c.2573A= (p.Tyr858=) c.788A= (p.Tyr263=) n.2924A= | |
6 | g.52045034A= | CA1628629710 | PKHD1 | c.2647T= (p.Tyr883=) c.1936T= (p.Tyr646=) c.2572T= (p.Tyr858=) c.787T= (p.Tyr263=) n.2923T= | |
6 | g.52045034A>C | CA138963501 | PKHD1 | c.2647T>G (p.Tyr883Asp) c.1936T>G (p.Tyr646Asp) c.2572T>G (p.Tyr858Asp) c.787T>G (p.Tyr263Asp) n.2923T>G | dbSNP |
6 | g.52045034A>G | CA364442894 | PKHD1 | c.2647T>C (p.Tyr883His) c.1936T>C (p.Tyr646His) c.2572T>C (p.Tyr858His) c.787T>C (p.Tyr263His) n.2923T>C | |
6 | g.52045034A>T | CA364442893 | PKHD1 | c.2647T>A (p.Tyr883Asn) c.1936T>A (p.Tyr646Asn) c.2572T>A (p.Tyr858Asn) c.787T>A (p.Tyr263Asn) n.2923T>A | |
6 | g.52045035T>A | CA450420458 | PKHD1 | c.2646A>T (p.Val882=) c.1935A>T (p.Val645=) c.2571A>T (p.Val857=) c.786A>T (p.Val262=) n.2922A>T | |
6 | g.52045035T>C | CA450420456 | PKHD1 | c.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 |
6 | g.52045035T>G | CA450420457 | PKHD1 | c.2646A>C (p.Val882=) c.1935A>C (p.Val645=) c.2571A>C (p.Val857=) c.786A>C (p.Val262=) n.2922A>C | |
6 | g.52045035T= | CA1628629713 | PKHD1 | c.2646A= (p.Val882=) c.1935A= (p.Val645=) c.2571A= (p.Val857=) c.786A= (p.Val262=) n.2922A= | |
6 | g.52045036A= | CA1628629729 | PKHD1 | c.2645T= (p.Val882=) c.1934T= (p.Val645=) c.2570T= (p.Val857=) c.785T= (p.Val262=) n.2921T= | |
6 | g.52045036A>C | CA364442895 | PKHD1 | c.2645T>G (p.Val882Gly) c.1934T>G (p.Val645Gly) c.2570T>G (p.Val857Gly) c.785T>G (p.Val262Gly) n.2921T>G | |
6 | g.52045036A>G | CA3853153 | PKHD1 | c.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 |
6 | g.52045036A>T | CA364442896 | PKHD1 | c.2645T>A (p.Val882Glu) c.1934T>A (p.Val645Glu) c.2570T>A (p.Val857Glu) c.785T>A (p.Val262Glu) n.2921T>A | |
6 | g.52045037C>A | CA364442897 | PKHD1 | c.2644G>T (p.Val882Leu) c.1933G>T (p.Val645Leu) c.2569G>T (p.Val857Leu) c.784G>T (p.Val262Leu) n.2920G>T | gnomAD v4 |
6 | g.52045037C>G | CA364442898 | PKHD1 | c.2644G>C (p.Val882Leu) c.1933G>C (p.Val645Leu) c.2569G>C (p.Val857Leu) c.784G>C (p.Val262Leu) n.2920G>C | |
6 | g.52045037C>T | CA364442899 | PKHD1 | c.2644G>A (p.Val882Ile) c.1933G>A (p.Val645Ile) c.2569G>A (p.Val857Ile) c.784G>A (p.Val262Ile) n.2920G>A | |
6 | g.52045038C>A | CA450420460 | PKHD1 | c.2643G>T (p.Val881=) c.1932G>T (p.Val644=) c.2568G>T (p.Val856=) c.783G>T (p.Val261=) n.2919G>T | |
6 | g.52045038C= | CA1628629733 | PKHD1 | c.2643G= (p.Val881=) c.1932G= (p.Val644=) c.2568G= (p.Val856=) c.783G= (p.Val261=) n.2919G= | |
6 | g.52045038C>G | CA450420461 | PKHD1 | c.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 |
6 | g.52045038C>T | CA450420462 | PKHD1 | c.2643G>A (p.Val881=) c.1932G>A (p.Val644=) c.2568G>A (p.Val856=) c.783G>A (p.Val261=) n.2919G>A | gnomAD v4 |
6 | g.52045039A= | CA1628629738 | PKHD1 | c.2642T= (p.Val881=) c.1931T= (p.Val644=) c.2567T= (p.Val856=) c.782T= (p.Val261=) n.2918T= | |
6 | g.52045039A>C | CA364442900 | PKHD1 | c.2642T>G (p.Val881Gly) c.1931T>G (p.Val644Gly) c.2567T>G (p.Val856Gly) c.782T>G (p.Val261Gly) n.2918T>G | gnomAD v4 |
6 | g.52045039A>G | CA138963504 | PKHD1 | c.2642T>C (p.Val881Ala) c.1931T>C (p.Val644Ala) c.2567T>C (p.Val856Ala) c.782T>C (p.Val261Ala) n.2918T>C | ClinVar dbSNP |
6 | g.52045039A>T | CA364442901 | PKHD1 | c.2642T>A (p.Val881Glu) c.1931T>A (p.Val644Glu) c.2567T>A (p.Val856Glu) c.782T>A (p.Val261Glu) n.2918T>A | |
6 | g.52045040C>A | CA364442902 | PKHD1 | c.2641G>T (p.Val881Leu) c.1930G>T (p.Val644Leu) c.2566G>T (p.Val856Leu) c.781G>T (p.Val261Leu) n.2917G>T | gnomAD v4 |
6 | g.52045040C= | CA1628629742 | PKHD1 | c.2641G= (p.Val881=) c.1930G= (p.Val644=) c.2566G= (p.Val856=) c.781G= (p.Val261=) n.2917G= | |
6 | g.52045040C>G | CA364442903 | PKHD1 | c.2641G>C (p.Val881Leu) c.1930G>C (p.Val644Leu) c.2566G>C (p.Val856Leu) c.781G>C (p.Val261Leu) n.2917G>C | |
6 | g.52045040C>T | CA364442904 | PKHD1 | c.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 |
6 | g.52045041A>C | CA450420465 | PKHD1 | c.2640T>G (p.Arg880=) c.1929T>G (p.Arg643=) c.2565T>G (p.Arg855=) c.780T>G (p.Arg260=) n.2916T>G | ClinVar |
6 | g.52045041A>G | CA450420466 | PKHD1 | c.2640T>C (p.Arg880=) c.1929T>C (p.Arg643=) c.2565T>C (p.Arg855=) c.780T>C (p.Arg260=) n.2916T>C | |
6 | g.52045041A>T | CA450420467 | PKHD1 | c.2640T>A (p.Arg880=) c.1929T>A (p.Arg643=) c.2565T>A (p.Arg855=) c.780T>A (p.Arg260=) n.2916T>A | |
6 | g.52045042C>A | CA364442906 | PKHD1 | c.2639G>T (p.Arg880Leu) c.1928G>T (p.Arg643Leu) c.2564G>T (p.Arg855Leu) c.779G>T (p.Arg260Leu) n.2915G>T | COSMIC COSMIC |
6 | g.52045042C= | CA1628629745 | PKHD1 | c.2639G= (p.Arg880=) c.1928G= (p.Arg643=) c.2564G= (p.Arg855=) c.779G= (p.Arg260=) n.2915G= | |
6 | g.52045042C>G | CA364442905 | PKHD1 | c.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 |
6 | g.52045042C>T | CA10604054 | PKHD1 | c.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 |
6 | g.52045043G>A | CA3853154 | PKHD1 | c.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 |
6 | g.52045043G>C | CA138963524 | PKHD1 | c.2638C>G (p.Arg880Gly) c.1927C>G (p.Arg643Gly) c.2563C>G (p.Arg855Gly) c.778C>G (p.Arg260Gly) n.2914C>G | dbSNP |
6 | g.52045043G= | CA1628629751 | PKHD1 | c.2638C= (p.Arg880=) c.1927C= (p.Arg643=) c.2563C= (p.Arg855=) c.778C= (p.Arg260=) n.2914C= | |
6 | g.52045043G>T | CA364442907 | PKHD1 | c.2638C>A (p.Arg880Ser) c.1927C>A (p.Arg643Ser) c.2563C>A (p.Arg855Ser) c.778C>A (p.Arg260Ser) n.2914C>A | gnomAD v4 |
6 | g.52045044C>A | CA450420469 | PKHD1 | c.2637G>T (p.Thr879=) c.1926G>T (p.Thr642=) c.2562G>T (p.Thr854=) c.777G>T (p.Thr259=) n.2913G>T | ClinVar |
6 | g.52045044C= | CA1628629761 | PKHD1 | c.2637G= (p.Thr879=) c.1926G= (p.Thr642=) c.2562G= (p.Thr854=) c.777G= (p.Thr259=) n.2913G= | |
6 | g.52045044C>G | CA450420470 | PKHD1 | c.2637G>C (p.Thr879=) c.1926G>C (p.Thr642=) c.2562G>C (p.Thr854=) c.777G>C (p.Thr259=) n.2913G>C | |
6 | g.52045044C>T | CA3853155 | PKHD1 | c.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 |
6 | g.52045045G>A | CA3853156 | PKHD1 | c.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 |
6 | g.52045045G>C | CA364442908 | PKHD1 | c.2636C>G (p.Thr879Arg) c.1925C>G (p.Thr642Arg) c.2561C>G (p.Thr854Arg) c.776C>G (p.Thr259Arg) n.2912C>G | |
6 | g.52045045G= | CA1628629770 | PKHD1 | c.2636C= (p.Thr879=) c.1925C= (p.Thr642=) c.2561C= (p.Thr854=) c.776C= (p.Thr259=) n.2912C= | |
6 | g.52045045G>T | CA364442909 | PKHD1 | c.2636C>A (p.Thr879Lys) c.1925C>A (p.Thr642Lys) c.2561C>A (p.Thr854Lys) c.776C>A (p.Thr259Lys) n.2912C>A | gnomAD v4 |
6 | g.52045046T>A | CA364442910 | PKHD1 | c.2635A>T (p.Thr879Ser) c.1924A>T (p.Thr642Ser) c.2560A>T (p.Thr854Ser) c.775A>T (p.Thr259Ser) n.2911A>T | |
6 | g.52045046T>C | CA364442911 | PKHD1 | c.2635A>G (p.Thr879Ala) c.1924A>G (p.Thr642Ala) c.2560A>G (p.Thr854Ala) c.775A>G (p.Thr259Ala) n.2911A>G | |
6 | g.52045046T>G | CA364442912 | PKHD1 | c.2635A>C (p.Thr879Pro) c.1924A>C (p.Thr642Pro) c.2560A>C (p.Thr854Pro) c.775A>C (p.Thr259Pro) n.2911A>C | |
6 | g.52045047G>A | CA3853157 | PKHD1 | c.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 |
6 | g.52045047G>C | CA450420474 | PKHD1 | c.2634C>G (p.Ala878=) c.1923C>G (p.Ala641=) c.2559C>G (p.Ala853=) c.774C>G (p.Ala258=) n.2910C>G | |
6 | g.52045047G= | CA1628629774 | PKHD1 | c.2634C= (p.Ala878=) c.1923C= (p.Ala641=) c.2559C= (p.Ala853=) c.774C= (p.Ala258=) n.2910C= | |
6 | g.52045047G>T | CA450420475 | PKHD1 | c.2634C>A (p.Ala878=) c.1923C>A (p.Ala641=) c.2559C>A (p.Ala853=) c.774C>A (p.Ala258=) n.2910C>A | |
6 | g.52045048G>A | CA364442915 | PKHD1 | c.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 |
6 | g.52045048G>C | CA364442914 | PKHD1 | c.2633C>G (p.Ala878Gly) c.1922C>G (p.Ala641Gly) c.2558C>G (p.Ala853Gly) c.773C>G (p.Ala258Gly) n.2909C>G | COSMIC COSMIC |
6 | g.52045048G= | CA1628629778 | PKHD1 | c.2633C= (p.Ala878=) c.1922C= (p.Ala641=) c.2558C= (p.Ala853=) c.773C= (p.Ala258=) n.2909C= | |
6 | g.52045048G>T | CA364442913 | PKHD1 | c.2633C>A (p.Ala878Asp) c.1922C>A (p.Ala641Asp) c.2558C>A (p.Ala853Asp) c.773C>A (p.Ala258Asp) n.2909C>A | |
6 | g.52045049C>A | CA364442916 | PKHD1 | c.2632G>T (p.Ala878Ser) c.1921G>T (p.Ala641Ser) c.2557G>T (p.Ala853Ser) c.772G>T (p.Ala258Ser) n.2908G>T | |
6 | g.52045049C>G | CA364442918 | PKHD1 | c.2632G>C (p.Ala878Pro) c.1921G>C (p.Ala641Pro) c.2557G>C (p.Ala853Pro) c.772G>C (p.Ala258Pro) n.2908G>C | |
6 | g.52045049C>T | CA364442917 | PKHD1 | c.2632G>A (p.Ala878Thr) c.1921G>A (p.Ala641Thr) c.2557G>A (p.Ala853Thr) c.772G>A (p.Ala258Thr) n.2908G>A | |
6 | g.52045050T>A | CA450420477 | PKHD1 | c.2631A>T (p.Ala877=) c.1920A>T (p.Ala640=) c.2556A>T (p.Ala852=) c.771A>T (p.Ala257=) n.2907A>T | |
6 | g.52045050T>C | CA450420478 | PKHD1 | c.2631A>G (p.Ala877=) c.1920A>G (p.Ala640=) c.2556A>G (p.Ala852=) c.771A>G (p.Ala257=) n.2907A>G | |
6 | g.52045050T>G | CA450420479 | PKHD1 | c.2631A>C (p.Ala877=) c.1920A>C (p.Ala640=) c.2556A>C (p.Ala852=) c.771A>C (p.Ala257=) n.2907A>C | |
6 | g.52045051G>A | CA3853158 | PKHD1 | c.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 |
6 | g.52045051G>C | CA364442919 | PKHD1 | c.2630C>G (p.Ala877Gly) c.1919C>G (p.Ala640Gly) c.2555C>G (p.Ala852Gly) c.770C>G (p.Ala257Gly) n.2906C>G | |
6 | g.52045051G= | CA1628629781 | PKHD1 | c.2630C= (p.Ala877=) c.1919C= (p.Ala640=) c.2555C= (p.Ala852=) c.770C= (p.Ala257=) n.2906C= | |
6 | g.52045051G>T | CA364442920 | PKHD1 | c.2630C>A (p.Ala877Glu) c.1919C>A (p.Ala640Glu) c.2555C>A (p.Ala852Glu) c.770C>A (p.Ala257Glu) n.2906C>A | |
6 | g.52045052C>A | CA364442921 | PKHD1 | c.2629G>T (p.Ala877Ser) c.1918G>T (p.Ala640Ser) c.2554G>T (p.Ala852Ser) c.769G>T (p.Ala257Ser) n.2905G>T | |
6 | g.52045052C>G | CA364442922 | PKHD1 | c.2629G>C (p.Ala877Pro) c.1918G>C (p.Ala640Pro) c.2554G>C (p.Ala852Pro) c.769G>C (p.Ala257Pro) n.2905G>C | |
6 | g.52045052C>T | CA364442923 | PKHD1 | c.2629G>A (p.Ala877Thr) c.1918G>A (p.Ala640Thr) c.2554G>A (p.Ala852Thr) c.769G>A (p.Ala257Thr) n.2905G>A | gnomAD v4 |
6 | g.52045053A>C | CA450420481 | PKHD1 | c.2628T>G (p.Ala876=) c.1917T>G (p.Ala639=) c.2553T>G (p.Ala851=) c.768T>G (p.Ala256=) n.2904T>G | |
6 | g.52045053A>G | CA450420482 | PKHD1 | c.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 |
6 | g.52045053A>T | CA450420483 | PKHD1 | c.2628T>A (p.Ala876=) c.1917T>A (p.Ala639=) c.2553T>A (p.Ala851=) c.768T>A (p.Ala256=) n.2904T>A | |
6 | g.52045054G>A | CA364442924 | PKHD1 | c.2627C>T (p.Ala876Val) c.1916C>T (p.Ala639Val) c.2552C>T (p.Ala851Val) c.767C>T (p.Ala256Val) n.2903C>T | ClinVar |
6 | g.52045054G>C | CA364442925 | PKHD1 | c.2627C>G (p.Ala876Gly) c.1916C>G (p.Ala639Gly) c.2552C>G (p.Ala851Gly) c.767C>G (p.Ala256Gly) n.2903C>G | |
6 | g.52045054G>T | CA364442926 | PKHD1 | c.2627C>A (p.Ala876Asp) c.1916C>A (p.Ala639Asp) c.2552C>A (p.Ala851Asp) c.767C>A (p.Ala256Asp) n.2903C>A | |
6 | g.52045055C>A | CA364442927 | PKHD1 | c.2626G>T (p.Ala876Ser) c.1915G>T (p.Ala639Ser) c.2551G>T (p.Ala851Ser) c.766G>T (p.Ala256Ser) n.2902G>T | |
6 | g.52045055C= | CA1628629786 | PKHD1 | c.2626G= (p.Ala876=) c.1915G= (p.Ala639=) c.2551G= (p.Ala851=) c.766G= (p.Ala256=) n.2902G= | |
6 | g.52045055C>G | CA364442928 | PKHD1 | c.2626G>C (p.Ala876Pro) c.1915G>C (p.Ala639Pro) c.2551G>C (p.Ala851Pro) c.766G>C (p.Ala256Pro) n.2902G>C | ClinVar dbSNP |
6 | g.52045055C>T | CA364442929 | PKHD1 | c.2626G>A (p.Ala876Thr) c.1915G>A (p.Ala639Thr) c.2551G>A (p.Ala851Thr) c.766G>A (p.Ala256Thr) n.2902G>A | gnomAD v4 |
6 | g.52045056A>C | CA450420489 | PKHD1 | c.2625T>G (p.Pro875=) c.1914T>G (p.Pro638=) c.2550T>G (p.Pro850=) c.765T>G (p.Pro255=) n.2901T>G | |
6 | g.52045056A>G | CA450420488 | PKHD1 | c.2625T>C (p.Pro875=) c.1914T>C (p.Pro638=) c.2550T>C (p.Pro850=) c.765T>C (p.Pro255=) n.2901T>C | |
6 | g.52045056A>T | CA450420487 | PKHD1 | c.2625T>A (p.Pro875=) c.1914T>A (p.Pro638=) c.2550T>A (p.Pro850=) c.765T>A (p.Pro255=) n.2901T>A | |
6 | g.52045057G>A | CA364442932 | PKHD1 | c.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 |
6 | g.52045057G>C | CA364442930 | PKHD1 | c.2624C>G (p.Pro875Arg) c.1913C>G (p.Pro638Arg) c.2549C>G (p.Pro850Arg) c.764C>G (p.Pro255Arg) n.2900C>G | |
6 | g.52045057G>T | CA364442931 | PKHD1 | c.2624C>A (p.Pro875His) c.1913C>A (p.Pro638His) c.2549C>A (p.Pro850His) c.764C>A (p.Pro255His) n.2900C>A | |
6 | g.52045058G>A | CA364442933 | PKHD1 | c.2623C>T (p.Pro875Ser) c.1912C>T (p.Pro638Ser) c.2548C>T (p.Pro850Ser) c.763C>T (p.Pro255Ser) n.2899C>T | |
6 | g.52045058G>C | CA364442934 | PKHD1 | c.2623C>G (p.Pro875Ala) c.1912C>G (p.Pro638Ala) c.2548C>G (p.Pro850Ala) c.763C>G (p.Pro255Ala) n.2899C>G | COSMIC COSMIC |
6 | g.52045058G>T | CA364442935 | PKHD1 | c.2623C>A (p.Pro875Thr) c.1912C>A (p.Pro638Thr) c.2548C>A (p.Pro850Thr) c.763C>A (p.Pro255Thr) n.2899C>A | |
6 | g.52045059A= | CA1628629790 | PKHD1 | c.2622T= (p.Asn874=) c.1911T= (p.Asn637=) c.2547T= (p.Asn849=) c.762T= (p.Asn254=) n.2898T= | |
6 | g.52045059A>C | CA364442936 | PKHD1 | c.2622T>G (p.Asn874Lys) c.1911T>G (p.Asn637Lys) c.2547T>G (p.Asn849Lys) c.762T>G (p.Asn254Lys) n.2898T>G | |
6 | g.52045059A>G | CA450420492 | PKHD1 | c.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 |
6 | g.52045059A>T | CA364442937 | PKHD1 | c.2622T>A (p.Asn874Lys) c.1911T>A (p.Asn637Lys) c.2547T>A (p.Asn849Lys) c.762T>A (p.Asn254Lys) n.2898T>A | |
6 | g.52045060T>A | CA364442938 | PKHD1 | c.2621A>T (p.Asn874Ile) c.1910A>T (p.Asn637Ile) c.2546A>T (p.Asn849Ile) c.761A>T (p.Asn254Ile) n.2897A>T | |
6 | g.52045060T>C | CA364442939 | PKHD1 | c.2621A>G (p.Asn874Ser) c.1910A>G (p.Asn637Ser) c.2546A>G (p.Asn849Ser) c.761A>G (p.Asn254Ser) n.2897A>G | |
6 | g.52045060T>G | CA364442940 | PKHD1 | c.2621A>C (p.Asn874Thr) c.1910A>C (p.Asn637Thr) c.2546A>C (p.Asn849Thr) c.761A>C (p.Asn254Thr) n.2897A>C | |
6 | g.52045061T>A | CA364442941 | PKHD1 | c.2620A>T (p.Asn874Tyr) c.1909A>T (p.Asn637Tyr) c.2545A>T (p.Asn849Tyr) c.760A>T (p.Asn254Tyr) n.2896A>T | |
6 | g.52045061T>C | CA364442942 | PKHD1 | c.2620A>G (p.Asn874Asp) c.1909A>G (p.Asn637Asp) c.2545A>G (p.Asn849Asp) c.760A>G (p.Asn254Asp) n.2896A>G | |
6 | g.52045061T>G | CA364442943 | PKHD1 | c.2620A>C (p.Asn874His) c.1909A>C (p.Asn637His) c.2545A>C (p.Asn849His) c.760A>C (p.Asn254His) n.2896A>C | |
6 | g.52045062C>A | CA450420496 | PKHD1 | c.2619G>T (p.Val873=) c.1908G>T (p.Val636=) c.2544G>T (p.Val848=) c.759G>T (p.Val253=) n.2895G>T | |
6 | g.52045062C>G | CA450420493 | PKHD1 | c.2619G>C (p.Val873=) c.1908G>C (p.Val636=) c.2544G>C (p.Val848=) c.759G>C (p.Val253=) n.2895G>C | |
6 | g.52045062C>T | CA450420494 | PKHD1 | c.2619G>A (p.Val873=) c.1908G>A (p.Val636=) c.2544G>A (p.Val848=) c.759G>A (p.Val253=) n.2895G>A | ClinVar |
6 | g.52045063A>C | CA364442946 | PKHD1 | c.2618T>G (p.Val873Gly) c.1907T>G (p.Val636Gly) c.2543T>G (p.Val848Gly) c.758T>G (p.Val253Gly) n.2894T>G | |
6 | g.52045063A>G | CA364442945 | PKHD1 | c.2618T>C (p.Val873Ala) c.1907T>C (p.Val636Ala) c.2543T>C (p.Val848Ala) c.758T>C (p.Val253Ala) n.2894T>C | |
6 | g.52045063A>T | CA364442944 | PKHD1 | c.2618T>A (p.Val873Glu) c.1907T>A (p.Val636Glu) c.2543T>A (p.Val848Glu) c.758T>A (p.Val253Glu) n.2894T>A | |
6 | g.52045064C>A | CA364442947 | PKHD1 | c.2617G>T (p.Val873Leu) c.1906G>T (p.Val636Leu) c.2542G>T (p.Val848Leu) c.757G>T (p.Val253Leu) n.2893G>T | |
6 | g.52045064C>G | CA364442948 | PKHD1 | c.2617G>C (p.Val873Leu) c.1906G>C (p.Val636Leu) c.2542G>C (p.Val848Leu) c.757G>C (p.Val253Leu) n.2893G>C | |
6 | g.52045064C>T | CA364442949 | PKHD1 | c.2617G>A (p.Val873Met) c.1906G>A (p.Val636Met) c.2542G>A (p.Val848Met) c.757G>A (p.Val253Met) n.2893G>A | |
6 | g.52045065T>A | CA450420498 | PKHD1 | c.2616A>T (p.Gly872=) c.1905A>T (p.Gly635=) c.2541A>T (p.Gly847=) c.756A>T (p.Gly252=) n.2892A>T | |
6 | g.52045065T>C | CA450420499 | PKHD1 | c.2616A>G (p.Gly872=) c.1905A>G (p.Gly635=) c.2541A>G (p.Gly847=) c.756A>G (p.Gly252=) n.2892A>G | |
6 | g.52045065T>G | CA450420500 | PKHD1 | c.2616A>C (p.Gly872=) c.1905A>C (p.Gly635=) c.2541A>C (p.Gly847=) c.756A>C (p.Gly252=) n.2892A>C |