Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.2115414_2115419delCA2695222582PKD1c.2059_2064del (p.Leu687_Phe688del)
c.472+2073_472+2078del
c.990_995del (n.990_995del)
c.2113_2118del (p.Leu705_Phe706del)
c.2041_2046del (p.Leu681_Phe682del)
c.1987_1992del (p.Leu663_Phe664del)
c.1906_1911del (p.Leu636_Phe637del)
c.1849_1854del (p.Leu617_Phe618del)
n.2128_2133del
16g.2115416_2115418delCA2580091017PKD1c.2059_2061del (p.Leu687del)
c.472+2073_472+2075del
c.990_992del (n.990_992del)
c.2113_2115del (p.Leu705del)
c.2041_2043del (p.Leu681del)
c.1987_1989del (p.Leu663del)
c.1906_1908del (p.Leu636del)
c.1849_1851del (p.Leu617del)
n.2128_2130del
 ClinVar gnomAD v4
16g.2115416G>ACA394389542PKD1c.2059C>T (p.Leu687Phe)
c.472+2073C>T
c.990C>T (n.990C>T)
c.2113C>T (p.Leu705Phe)
c.2041C>T (p.Leu681Phe)
c.1987C>T (p.Leu663Phe)
c.1906C>T (p.Leu636Phe)
c.1849C>T (p.Leu617Phe)
n.2128C>T
16g.2115416G>CCA394389543PKD1c.2059C>G (p.Leu687Val)
c.472+2073C>G
c.990C>G (n.990C>G)
c.2113C>G (p.Leu705Val)
c.2041C>G (p.Leu681Val)
c.1987C>G (p.Leu663Val)
c.1906C>G (p.Leu636Val)
c.1849C>G (p.Leu617Val)
n.2128C>G
16g.2115416G>TCA394389544PKD1c.2059C>A (p.Leu687Ile)
c.472+2073C>A
c.990C>A (n.990C>A)
c.2113C>A (p.Leu705Ile)
c.2041C>A (p.Leu681Ile)
c.1987C>A (p.Leu663Ile)
c.1906C>A (p.Leu636Ile)
c.1849C>A (p.Leu617Ile)
n.2128C>A
 gnomAD v4
16g.2115417G>ACA276782994PKD1c.2058C>T (p.Phe686=)
c.472+2072C>T
c.989C>T (n.989C>T)
c.2112C>T (p.Phe704=)
c.2040C>T (p.Phe680=)
c.1986C>T (p.Phe662=)
c.1905C>T (p.Phe635=)
c.1848C>T (p.Phe616=)
n.2127C>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC
16g.2115417G>CCA394389546PKD1c.2058C>G (p.Phe686Leu)
c.472+2072C>G
c.989C>G (n.989C>G)
c.2112C>G (p.Phe704Leu)
c.2040C>G (p.Phe680Leu)
c.1986C>G (p.Phe662Leu)
c.1905C>G (p.Phe635Leu)
c.1848C>G (p.Phe616Leu)
n.2127C>G
 dbSNP gnomAD v2 gnomAD v4
16g.2115417G=CA2202050344PKD1c.2058C= (p.Phe686=)
c.472+2072C=
c.989C= (n.989C=)
c.2112C= (p.Phe704=)
c.2040C= (p.Phe680=)
c.1986C= (p.Phe662=)
c.1905C= (p.Phe635=)
c.1848C= (p.Phe616=)
n.2127C=
16g.2115417G>TCA394389547PKD1c.2058C>A (p.Phe686Leu)
c.472+2072C>A
c.989C>A (n.989C>A)
c.2112C>A (p.Phe704Leu)
c.2040C>A (p.Phe680Leu)
c.1986C>A (p.Phe662Leu)
c.1905C>A (p.Phe635Leu)
c.1848C>A (p.Phe616Leu)
n.2127C>A
 gnomAD v4
16g.2115418A>CCA394389549PKD1c.2057T>G (p.Phe686Cys)
c.472+2071T>G
c.988T>G (n.988T>G)
c.2111T>G (p.Phe704Cys)
c.2039T>G (p.Phe680Cys)
c.1985T>G (p.Phe662Cys)
c.1904T>G (p.Phe635Cys)
c.1847T>G (p.Phe616Cys)
n.2126T>G
16g.2115418A>GCA394389551PKD1c.2057T>C (p.Phe686Ser)
c.472+2071T>C
c.988T>C (n.988T>C)
c.2111T>C (p.Phe704Ser)
c.2039T>C (p.Phe680Ser)
c.1985T>C (p.Phe662Ser)
c.1904T>C (p.Phe635Ser)
c.1847T>C (p.Phe616Ser)
n.2126T>C
16g.2115418A>TCA394389552PKD1c.2057T>A (p.Phe686Tyr)
c.472+2071T>A
c.988T>A (n.988T>A)
c.2111T>A (p.Phe704Tyr)
c.2039T>A (p.Phe680Tyr)
c.1985T>A (p.Phe662Tyr)
c.1904T>A (p.Phe635Tyr)
c.1847T>A (p.Phe616Tyr)
n.2126T>A
16g.2115419A=CA2202050345PKD1c.2056T= (p.Phe686=)
c.472+2070T=
c.987T= (n.987T=)
c.2110T= (p.Phe704=)
c.2038T= (p.Phe680=)
c.1984T= (p.Phe662=)
c.1903T= (p.Phe635=)
c.1846T= (p.Phe616=)
n.2125T=
16g.2115419A>CCA394389554PKD1c.2056T>G (p.Phe686Val)
c.472+2070T>G
c.987T>G (n.987T>G)
c.2110T>G (p.Phe704Val)
c.2038T>G (p.Phe680Val)
c.1984T>G (p.Phe662Val)
c.1903T>G (p.Phe635Val)
c.1846T>G (p.Phe616Val)
n.2125T>G
 gnomAD v4
16g.2115419A>GCA394389555PKD1c.2056T>C (p.Phe686Leu)
c.472+2070T>C
c.987T>C (n.987T>C)
c.2110T>C (p.Phe704Leu)
c.2038T>C (p.Phe680Leu)
c.1984T>C (p.Phe662Leu)
c.1903T>C (p.Phe635Leu)
c.1846T>C (p.Phe616Leu)
n.2125T>C
 gnomAD v4
16g.2115419A>TCA394389557PKD1c.2056T>A (p.Phe686Ile)
c.472+2070T>A
c.987T>A (n.987T>A)
c.2110T>A (p.Phe704Ile)
c.2038T>A (p.Phe680Ile)
c.1984T>A (p.Phe662Ile)
c.1903T>A (p.Phe635Ile)
c.1846T>A (p.Phe616Ile)
n.2125T>A
 dbSNP
16g.2115420C>ACA394389558PKD1c.2055G>T (p.Glu685Asp)
c.472+2069G>T
c.986G>T (n.986G>T)
c.2109G>T (p.Glu703Asp)
c.2037G>T (p.Glu679Asp)
c.1983G>T (p.Glu661Asp)
c.1902G>T (p.Glu634Asp)
c.1845G>T (p.Glu615Asp)
n.2124G>T
 dbSNP
16g.2115420C=CA2202050346PKD1c.2055G= (p.Glu685=)
c.472+2069G=
c.986G= (n.986G=)
c.2109G= (p.Glu703=)
c.2037G= (p.Glu679=)
c.1983G= (p.Glu661=)
c.1902G= (p.Glu634=)
c.1845G= (p.Glu615=)
n.2124G=
16g.2115420C>GCA394389560PKD1c.2055G>C (p.Glu685Asp)
c.472+2069G>C
c.986G>C (n.986G>C)
c.2109G>C (p.Glu703Asp)
c.2037G>C (p.Glu679Asp)
c.1983G>C (p.Glu661Asp)
c.1902G>C (p.Glu634Asp)
c.1845G>C (p.Glu615Asp)
n.2124G>C
16g.2115420C>TCA493049582PKD1c.2055G>A (p.Glu685=)
c.472+2069G>A
c.986G>A (n.986G>A)
c.2109G>A (p.Glu703=)
c.2037G>A (p.Glu679=)
c.1983G>A (p.Glu661=)
c.1902G>A (p.Glu634=)
c.1845G>A (p.Glu615=)
n.2124G>A
16g.2115425_2115426dupCA2805582212PKD1c.2054_2055dup (p.Phe686SerfsTer?)
c.472+2068_472+2069dup
c.985_986dup (n.985_986dup)
c.2108_2109dup (p.Phe704SerfsTer?)
c.2036_2037dup (p.Phe680SerfsTer?)
c.1982_1983dup (p.Phe662SerfsTer?)
c.1901_1902dup (p.Phe635SerfsTer?)
c.1844_1845dup (p.Phe616SerfsTer?)
n.2123_2124dup
16g.2115425_2115426delCA2580613378PKD1c.2054_2055del (p.Glu685ValfsTer28)
c.472+2068_472+2069del
c.985_986del (n.985_986del)
c.2108_2109del (p.Glu703ValfsTer28)
c.2036_2037del (p.Glu679ValfsTer28)
c.1982_1983del (p.Glu661ValfsTer28)
c.1901_1902del (p.Glu634ValfsTer28)
c.1844_1845del (p.Glu615ValfsTer28)
n.2123_2124del
 ClinVar dbSNP gnomAD v4
16g.2115421T>ACA394389564PKD1c.2054A>T (p.Glu685Val)
c.472+2068A>T
c.985A>T (n.985A>T)
c.2108A>T (p.Glu703Val)
c.2036A>T (p.Glu679Val)
c.1982A>T (p.Glu661Val)
c.1901A>T (p.Glu634Val)
c.1844A>T (p.Glu615Val)
n.2123A>T
 gnomAD v4
16g.2115421T>CCA394389563PKD1c.2054A>G (p.Glu685Gly)
c.472+2068A>G
c.985A>G (n.985A>G)
c.2108A>G (p.Glu703Gly)
c.2036A>G (p.Glu679Gly)
c.1982A>G (p.Glu661Gly)
c.1901A>G (p.Glu634Gly)
c.1844A>G (p.Glu615Gly)
n.2123A>G
 dbSNP gnomAD v2 gnomAD v4
16g.2115421T>GCA394389561PKD1c.2054A>C (p.Glu685Ala)
c.472+2068A>C
c.985A>C (n.985A>C)
c.2108A>C (p.Glu703Ala)
c.2036A>C (p.Glu679Ala)
c.1982A>C (p.Glu661Ala)
c.1901A>C (p.Glu634Ala)
c.1844A>C (p.Glu615Ala)
n.2123A>C
16g.2115421T=CA2202050347PKD1c.2054A= (p.Glu685=)
c.472+2068A=
c.985A= (n.985A=)
c.2108A= (p.Glu703=)
c.2036A= (p.Glu679=)
c.1982A= (p.Glu661=)
c.1901A= (p.Glu634=)
c.1844A= (p.Glu615=)
n.2123A=
16g.2115422C>ACA394389566PKD1c.2053G>T (p.Glu685Ter)
c.472+2067G>T
c.984G>T (n.984G>T)
c.2107G>T (p.Glu703Ter)
c.2035G>T (p.Glu679Ter)
c.1981G>T (p.Glu661Ter)
c.1900G>T (p.Glu634Ter)
c.1843G>T (p.Glu615Ter)
n.2122G>T
 gnomAD v4
16g.2115422C=CA2202050348PKD1c.2053G= (p.Glu685=)
c.472+2067G=
c.984G= (n.984G=)
c.2107G= (p.Glu703=)
c.2035G= (p.Glu679=)
c.1981G= (p.Glu661=)
c.1900G= (p.Glu634=)
c.1843G= (p.Glu615=)
n.2122G=
16g.2115422C>GCA394389567PKD1c.2053G>C (p.Glu685Gln)
c.472+2067G>C
c.984G>C (n.984G>C)
c.2107G>C (p.Glu703Gln)
c.2035G>C (p.Glu679Gln)
c.1981G>C (p.Glu661Gln)
c.1900G>C (p.Glu634Gln)
c.1843G>C (p.Glu615Gln)
n.2122G>C
 dbSNP gnomAD v4
16g.2115422C>TCA394389568PKD1c.2053G>A (p.Glu685Lys)
c.472+2067G>A
c.984G>A (n.984G>A)
c.2107G>A (p.Glu703Lys)
c.2035G>A (p.Glu679Lys)
c.1981G>A (p.Glu661Lys)
c.1900G>A (p.Glu634Lys)
c.1843G>A (p.Glu615Lys)
n.2122G>A
16g.2115423T>ACA394389570PKD1c.2052A>T (p.Arg684Ser)
c.472+2066A>T
c.983A>T (n.983A>T)
c.2106A>T (p.Arg702Ser)
c.2034A>T (p.Arg678Ser)
c.1980A>T (p.Arg660Ser)
c.1899A>T (p.Arg633Ser)
c.1842A>T (p.Arg614Ser)
n.2121A>T
16g.2115423T>CCA493049596PKD1c.2052A>G (p.Arg684=)
c.472+2066A>G
c.983A>G (n.983A>G)
c.2106A>G (p.Arg702=)
c.2034A>G (p.Arg678=)
c.1980A>G (p.Arg660=)
c.1899A>G (p.Arg633=)
c.1842A>G (p.Arg614=)
n.2121A>G
16g.2115423T>GCA394389571PKD1c.2052A>C (p.Arg684Ser)
c.472+2066A>C
c.983A>C (n.983A>C)
c.2106A>C (p.Arg702Ser)
c.2034A>C (p.Arg678Ser)
c.1980A>C (p.Arg660Ser)
c.1899A>C (p.Arg633Ser)
c.1842A>C (p.Arg614Ser)
n.2121A>C
16g.2115424C>ACA7833299PKD1c.2051G>T (p.Arg684Ile)
c.472+2065G>T
c.982G>T (n.982G>T)
c.2105G>T (p.Arg702Ile)
c.2033G>T (p.Arg678Ile)
c.1979G>T (p.Arg660Ile)
c.1898G>T (p.Arg633Ile)
c.1841G>T (p.Arg614Ile)
n.2120G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2115424C=CA2202050349PKD1c.2051G= (p.Arg684=)
c.472+2065G=
c.982G= (n.982G=)
c.2105G= (p.Arg702=)
c.2033G= (p.Arg678=)
c.1979G= (p.Arg660=)
c.1898G= (p.Arg633=)
c.1841G= (p.Arg614=)
n.2120G=
16g.2115424C>GCA394389574PKD1c.2051G>C (p.Arg684Thr)
c.472+2065G>C
c.982G>C (n.982G>C)
c.2105G>C (p.Arg702Thr)
c.2033G>C (p.Arg678Thr)
c.1979G>C (p.Arg660Thr)
c.1898G>C (p.Arg633Thr)
c.1841G>C (p.Arg614Thr)
n.2120G>C
16g.2115424C>TCA7833300PKD1c.2051G>A (p.Arg684Lys)
c.472+2065G>A
c.982G>A (n.982G>A)
c.2105G>A (p.Arg702Lys)
c.2033G>A (p.Arg678Lys)
c.1979G>A (p.Arg660Lys)
c.1898G>A (p.Arg633Lys)
c.1841G>A (p.Arg614Lys)
n.2120G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2115425T>ACA394389575PKD1c.2050A>T (p.Arg684Ter)
c.472+2064A>T
c.981A>T (n.981A>T)
c.2104A>T (p.Arg702Ter)
c.2032A>T (p.Arg678Ter)
c.1978A>T (p.Arg660Ter)
c.1897A>T (p.Arg633Ter)
c.1840A>T (p.Arg614Ter)
n.2119A>T
 ClinVar
16g.2115425T>CCA394389577PKD1c.2050A>G (p.Arg684Gly)
c.472+2064A>G
c.981A>G (n.981A>G)
c.2104A>G (p.Arg702Gly)
c.2032A>G (p.Arg678Gly)
c.1978A>G (p.Arg660Gly)
c.1897A>G (p.Arg633Gly)
c.1840A>G (p.Arg614Gly)
n.2119A>G
 dbSNP gnomAD v2 gnomAD v4
16g.2115425T>GCA493049604PKD1c.2050A>C (p.Arg684=)
c.472+2064A>C
c.981A>C (n.981A>C)
c.2104A>C (p.Arg702=)
c.2032A>C (p.Arg678=)
c.1978A>C (p.Arg660=)
c.1897A>C (p.Arg633=)
c.1840A>C (p.Arg614=)
n.2119A>C
16g.2115425T=CA2202050350PKD1c.2050A= (p.Arg684=)
c.472+2064A=
c.981A= (n.981A=)
c.2104A= (p.Arg702=)
c.2032A= (p.Arg678=)
c.1978A= (p.Arg660=)
c.1897A= (p.Arg633=)
c.1840A= (p.Arg614=)
n.2119A=
16g.2115426C>ACA394389578PKD1c.2049G>T (p.Trp683Cys)
c.472+2063G>T
c.980G>T (n.980G>T)
c.2103G>T (p.Trp701Cys)
c.2031G>T (p.Trp677Cys)
c.1977G>T (p.Trp659Cys)
c.1896G>T (p.Trp632Cys)
c.1839G>T (p.Trp613Cys)
n.2118G>T
 gnomAD v4
16g.2115426C>GCA394389580PKD1c.2049G>C (p.Trp683Cys)
c.472+2063G>C
c.980G>C (n.980G>C)
c.2103G>C (p.Trp701Cys)
c.2031G>C (p.Trp677Cys)
c.1977G>C (p.Trp659Cys)
c.1896G>C (p.Trp632Cys)
c.1839G>C (p.Trp613Cys)
n.2118G>C
16g.2115426C>TCA394389581PKD1c.2049G>A (p.Trp683Ter)
c.472+2063G>A
c.980G>A (n.980G>A)
c.2103G>A (p.Trp701Ter)
c.2031G>A (p.Trp677Ter)
c.1977G>A (p.Trp659Ter)
c.1896G>A (p.Trp632Ter)
c.1839G>A (p.Trp613Ter)
n.2118G>A
16g.2115427C>ACA394389584PKD1c.2048G>T (p.Trp683Leu)
c.472+2062G>T
c.979G>T (n.979G>T)
c.2102G>T (p.Trp701Leu)
c.2030G>T (p.Trp677Leu)
c.1976G>T (p.Trp659Leu)
c.1895G>T (p.Trp632Leu)
c.1838G>T (p.Trp613Leu)
n.2117G>T
 gnomAD v4
16g.2115427C=CA2202050351PKD1c.2048G= (p.Trp683=)
c.472+2062G=
c.979G= (n.979G=)
c.2102G= (p.Trp701=)
c.2030G= (p.Trp677=)
c.1976G= (p.Trp659=)
c.1895G= (p.Trp632=)
c.1838G= (p.Trp613=)
n.2117G=
16g.2115427C>GCA394389585PKD1c.2048G>C (p.Trp683Ser)
c.472+2062G>C
c.979G>C (n.979G>C)
c.2102G>C (p.Trp701Ser)
c.2030G>C (p.Trp677Ser)
c.1976G>C (p.Trp659Ser)
c.1895G>C (p.Trp632Ser)
c.1838G>C (p.Trp613Ser)
n.2117G>C
16g.2115427C>TCA394389583PKD1c.2048G>A (p.Trp683Ter)
c.472+2062G>A
c.979G>A (n.979G>A)
c.2102G>A (p.Trp701Ter)
c.2030G>A (p.Trp677Ter)
c.1976G>A (p.Trp659Ter)
c.1895G>A (p.Trp632Ter)
c.1838G>A (p.Trp613Ter)
n.2117G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2115428A=CA2202050352PKD1c.2047T= (p.Trp683=)
c.472+2061T=
c.978T= (n.978T=)
c.2101T= (p.Trp701=)
c.2029T= (p.Trp677=)
c.1975T= (p.Trp659=)
c.1894T= (p.Trp632=)
c.1837T= (p.Trp613=)
n.2116T=
16g.2115428A>CCA394389587PKD1c.2047T>G (p.Trp683Gly)
c.472+2061T>G
c.978T>G (n.978T>G)
c.2101T>G (p.Trp701Gly)
c.2029T>G (p.Trp677Gly)
c.1975T>G (p.Trp659Gly)
c.1894T>G (p.Trp632Gly)
c.1837T>G (p.Trp613Gly)
n.2116T>G
16g.2115428A>GCA394389589PKD1c.2047T>C (p.Trp683Arg)
c.472+2061T>C
c.978T>C (n.978T>C)
c.2101T>C (p.Trp701Arg)
c.2029T>C (p.Trp677Arg)
c.1975T>C (p.Trp659Arg)
c.1894T>C (p.Trp632Arg)
c.1837T>C (p.Trp613Arg)
n.2116T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2115428A>TCA394389590PKD1c.2047T>A (p.Trp683Arg)
c.472+2061T>A
c.978T>A (n.978T>A)
c.2101T>A (p.Trp701Arg)
c.2029T>A (p.Trp677Arg)
c.1975T>A (p.Trp659Arg)
c.1894T>A (p.Trp632Arg)
c.1837T>A (p.Trp613Arg)
n.2116T>A
16g.2115429T>ACA493049619PKD1c.2046A>T (p.Leu682=)
c.472+2060A>T
c.977A>T (n.977A>T)
c.2100A>T (p.Leu700=)
c.2028A>T (p.Leu676=)
c.1974A>T (p.Leu658=)
c.1893A>T (p.Leu631=)
c.1836A>T (p.Leu612=)
n.2115A>T
16g.2115429T>CCA493049620PKD1c.2046A>G (p.Leu682=)
c.472+2060A>G
c.977A>G (n.977A>G)
c.2100A>G (p.Leu700=)
c.2028A>G (p.Leu676=)
c.1974A>G (p.Leu658=)
c.1893A>G (p.Leu631=)
c.1836A>G (p.Leu612=)
n.2115A>G
 dbSNP gnomAD v4
16g.2115429T>GCA493049623PKD1c.2046A>C (p.Leu682=)
c.472+2060A>C
c.977A>C (n.977A>C)
c.2100A>C (p.Leu700=)
c.2028A>C (p.Leu676=)
c.1974A>C (p.Leu658=)
c.1893A>C (p.Leu631=)
c.1836A>C (p.Leu612=)
n.2115A>C
16g.2115429T=CA2202050353PKD1c.2046A= (p.Leu682=)
c.472+2060A=
c.977A= (n.977A=)
c.2100A= (p.Leu700=)
c.2028A= (p.Leu676=)
c.1974A= (p.Leu658=)
c.1893A= (p.Leu631=)
c.1836A= (p.Leu612=)
n.2115A=
16g.2115430A>CCA394389592PKD1c.2045T>G (p.Leu682Arg)
c.472+2059T>G
c.976T>G (n.976T>G)
c.2099T>G (p.Leu700Arg)
c.2027T>G (p.Leu676Arg)
c.1973T>G (p.Leu658Arg)
c.1892T>G (p.Leu631Arg)
c.1835T>G (p.Leu612Arg)
n.2114T>G
16g.2115430A>GCA394389593PKD1c.2045T>C (p.Leu682Pro)
c.472+2059T>C
c.976T>C (n.976T>C)
c.2099T>C (p.Leu700Pro)
c.2027T>C (p.Leu676Pro)
c.1973T>C (p.Leu658Pro)
c.1892T>C (p.Leu631Pro)
c.1835T>C (p.Leu612Pro)
n.2114T>C
16g.2115430A>TCA394389595PKD1c.2045T>A (p.Leu682Gln)
c.472+2059T>A
c.976T>A (n.976T>A)
c.2099T>A (p.Leu700Gln)
c.2027T>A (p.Leu676Gln)
c.1973T>A (p.Leu658Gln)
c.1892T>A (p.Leu631Gln)
c.1835T>A (p.Leu612Gln)
n.2114T>A
16g.2115431G>ACA493049630PKD1c.2044C>T (p.Leu682=)
c.472+2058C>T
c.975C>T (n.975C>T)
c.2098C>T (p.Leu700=)
c.2026C>T (p.Leu676=)
c.1972C>T (p.Leu658=)
c.1891C>T (p.Leu631=)
c.1834C>T (p.Leu612=)
n.2113C>T
 gnomAD v4
16g.2115431G>CCA394389596PKD1c.2044C>G (p.Leu682Val)
c.472+2058C>G
c.975C>G (n.975C>G)
c.2098C>G (p.Leu700Val)
c.2026C>G (p.Leu676Val)
c.1972C>G (p.Leu658Val)
c.1891C>G (p.Leu631Val)
c.1834C>G (p.Leu612Val)
n.2113C>G
16g.2115431G>TCA394389598PKD1c.2044C>A (p.Leu682Ile)
c.472+2058C>A
c.975C>A (n.975C>A)
c.2098C>A (p.Leu700Ile)
c.2026C>A (p.Leu676Ile)
c.1972C>A (p.Leu658Ile)
c.1891C>A (p.Leu631Ile)
c.1834C>A (p.Leu612Ile)
n.2113C>A
 gnomAD v4
16g.2115432C>ACA493049637PKD1c.2043G>T (p.Ala681=)
c.472+2057G>T
c.974G>T (n.974G>T)
c.2097G>T (p.Ala699=)
c.2025G>T (p.Ala675=)
c.1971G>T (p.Ala657=)
c.1890G>T (p.Ala630=)
c.1833G>T (p.Ala611=)
n.2112G>T
16g.2115432C>GCA493049638PKD1c.2043G>C (p.Ala681=)
c.472+2057G>C
c.974G>C (n.974G>C)
c.2097G>C (p.Ala699=)
c.2025G>C (p.Ala675=)
c.1971G>C (p.Ala657=)
c.1890G>C (p.Ala630=)
c.1833G>C (p.Ala611=)
n.2112G>C
16g.2115432C>TCA493049639PKD1c.2043G>A (p.Ala681=)
c.472+2057G>A
c.974G>A (n.974G>A)
c.2097G>A (p.Ala699=)
c.2025G>A (p.Ala675=)
c.1971G>A (p.Ala657=)
c.1890G>A (p.Ala630=)
c.1833G>A (p.Ala611=)
n.2112G>A
 gnomAD v4
16g.2115433G>ACA7833301PKD1c.2042C>T (p.Ala681Val)
c.472+2056C>T
c.973C>T (n.973C>T)
c.2096C>T (p.Ala699Val)
c.2024C>T (p.Ala675Val)
c.1970C>T (p.Ala657Val)
c.1889C>T (p.Ala630Val)
c.1832C>T (p.Ala611Val)
n.2111C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2115433G>CCA394389599PKD1c.2042C>G (p.Ala681Gly)
c.472+2056C>G
c.973C>G (n.973C>G)
c.2096C>G (p.Ala699Gly)
c.2024C>G (p.Ala675Gly)
c.1970C>G (p.Ala657Gly)
c.1889C>G (p.Ala630Gly)
c.1832C>G (p.Ala611Gly)
n.2111C>G
16g.2115433G=CA2202050354PKD1c.2042C= (p.Ala681=)
c.472+2056C=
c.973C= (n.973C=)
c.2096C= (p.Ala699=)
c.2024C= (p.Ala675=)
c.1970C= (p.Ala657=)
c.1889C= (p.Ala630=)
c.1832C= (p.Ala611=)
n.2111C=
16g.2115433G>TCA394389601PKD1c.2042C>A (p.Ala681Glu)
c.472+2056C>A
c.973C>A (n.973C>A)
c.2096C>A (p.Ala699Glu)
c.2024C>A (p.Ala675Glu)
c.1970C>A (p.Ala657Glu)
c.1889C>A (p.Ala630Glu)
c.1832C>A (p.Ala611Glu)
n.2111C>A
 gnomAD v4
16g.2115434C>ACA394389605PKD1c.2041G>T (p.Ala681Ser)
c.472+2055G>T
c.972G>T (n.972G>T)
c.2095G>T (p.Ala699Ser)
c.2023G>T (p.Ala675Ser)
c.1969G>T (p.Ala657Ser)
c.1888G>T (p.Ala630Ser)
c.1831G>T (p.Ala611Ser)
n.2110G>T
 gnomAD v4
16g.2115434C>GCA394389603PKD1c.2041G>C (p.Ala681Pro)
c.472+2055G>C
c.972G>C (n.972G>C)
c.2095G>C (p.Ala699Pro)
c.2023G>C (p.Ala675Pro)
c.1969G>C (p.Ala657Pro)
c.1888G>C (p.Ala630Pro)
c.1831G>C (p.Ala611Pro)
n.2110G>C
16g.2115434C>TCA394389602PKD1c.2041G>A (p.Ala681Thr)
c.472+2055G>A
c.972G>A (n.972G>A)
c.2095G>A (p.Ala699Thr)
c.2023G>A (p.Ala675Thr)
c.1969G>A (p.Ala657Thr)
c.1888G>A (p.Ala630Thr)
c.1831G>A (p.Ala611Thr)
n.2110G>A
 gnomAD v4
16g.2115435A>CCA394389606PKD1c.2040T>G (p.Tyr680Ter)
c.472+2054T>G
c.971T>G (n.971T>G)
c.2094T>G (p.Tyr698Ter)
c.2022T>G (p.Tyr674Ter)
c.1968T>G (p.Tyr656Ter)
c.1887T>G (p.Tyr629Ter)
c.1830T>G (p.Tyr610Ter)
n.2109T>G
16g.2115435A>GCA493049649PKD1c.2040T>C (p.Tyr680=)
c.472+2054T>C
c.971T>C (n.971T>C)
c.2094T>C (p.Tyr698=)
c.2022T>C (p.Tyr674=)
c.1968T>C (p.Tyr656=)
c.1887T>C (p.Tyr629=)
c.1830T>C (p.Tyr610=)
n.2109T>C
 gnomAD v4
16g.2115435A>TCA394389608PKD1c.2040T>A (p.Tyr680Ter)
c.472+2054T>A
c.971T>A (n.971T>A)
c.2094T>A (p.Tyr698Ter)
c.2022T>A (p.Tyr674Ter)
c.1968T>A (p.Tyr656Ter)
c.1887T>A (p.Tyr629Ter)
c.1830T>A (p.Tyr610Ter)
n.2109T>A
 gnomAD v4
16g.2115435dupCA2695222583PKD1c.2040dup (p.Ala681CysfsTer?)
c.472+2054dup
c.971dup (n.971dup)
c.2094dup (p.Ala699CysfsTer?)
c.2022dup (p.Ala675CysfsTer?)
c.1968dup (p.Ala657CysfsTer?)
c.1887dup (p.Ala630CysfsTer?)
c.1830dup (p.Ala611CysfsTer?)
n.2109dup
16g.2115436T>ACA7833302PKD1c.2039A>T (p.Tyr680Phe)
c.472+2053A>T
c.970A>T (n.970A>T)
c.2093A>T (p.Tyr698Phe)
c.2021A>T (p.Tyr674Phe)
c.1967A>T (p.Tyr656Phe)
c.1886A>T (p.Tyr629Phe)
c.1829A>T (p.Tyr610Phe)
n.2108A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2115436T>CCA394389610PKD1c.2039A>G (p.Tyr680Cys)
c.472+2053A>G
c.970A>G (n.970A>G)
c.2093A>G (p.Tyr698Cys)
c.2021A>G (p.Tyr674Cys)
c.1967A>G (p.Tyr656Cys)
c.1886A>G (p.Tyr629Cys)
c.1829A>G (p.Tyr610Cys)
n.2108A>G
 dbSNP gnomAD v3 gnomAD v4
16g.2115436T>GCA394389611PKD1c.2039A>C (p.Tyr680Ser)
c.472+2053A>C
c.970A>C (n.970A>C)
c.2093A>C (p.Tyr698Ser)
c.2021A>C (p.Tyr674Ser)
c.1967A>C (p.Tyr656Ser)
c.1886A>C (p.Tyr629Ser)
c.1829A>C (p.Tyr610Ser)
n.2108A>C
16g.2115436T=CA2202050356PKD1c.2039A= (p.Tyr680=)
c.472+2053A=
c.970A= (n.970A=)
c.2093A= (p.Tyr698=)
c.2021A= (p.Tyr674=)
c.1967A= (p.Tyr656=)
c.1886A= (p.Tyr629=)
c.1829A= (p.Tyr610=)
n.2108A=
16g.2115436_2115437delinsTACA2202050355PKD1c.2038_2039delinsTA (p.Tyr680=)
c.472+2052_472+2053delinsTA
c.969_970delinsTA (n.969_970delinsTA)
c.2092_2093delinsTA (p.Tyr698=)
c.2020_2021delinsTA (p.Tyr674=)
c.1966_1967delinsTA (p.Tyr656=)
c.1885_1886delinsTA (p.Tyr629=)
c.1828_1829delinsTA (p.Tyr610=)
n.2107_2108delinsTA
16g.2115437delCA620705838PKD1c.2038del (p.Tyr680MetfsTer?)
c.472+2052del
c.969del (n.969del)
c.2092del (p.Tyr698MetfsTer?)
c.2020del (p.Tyr674MetfsTer?)
c.1966del (p.Tyr656MetfsTer?)
c.1885del (p.Tyr629MetfsTer?)
c.1828del (p.Tyr610MetfsTer?)
n.2107del
 ClinVar dbSNP gnomAD v2
16g.2115437A>CCA394389613PKD1c.2038T>G (p.Tyr680Asp)
c.472+2052T>G
c.969T>G (n.969T>G)
c.2092T>G (p.Tyr698Asp)
c.2020T>G (p.Tyr674Asp)
c.1966T>G (p.Tyr656Asp)
c.1885T>G (p.Tyr629Asp)
c.1828T>G (p.Tyr610Asp)
n.2107T>G
 ClinVar dbSNP
16g.2115437A>GCA394389614PKD1c.2038T>C (p.Tyr680His)
c.472+2052T>C
c.969T>C (n.969T>C)
c.2092T>C (p.Tyr698His)
c.2020T>C (p.Tyr674His)
c.1966T>C (p.Tyr656His)
c.1885T>C (p.Tyr629His)
c.1828T>C (p.Tyr610His)
n.2107T>C
16g.2115437A>TCA394389616PKD1c.2038T>A (p.Tyr680Asn)
c.472+2052T>A
c.969T>A (n.969T>A)
c.2092T>A (p.Tyr698Asn)
c.2020T>A (p.Tyr674Asn)
c.1966T>A (p.Tyr656Asn)
c.1885T>A (p.Tyr629Asn)
c.1828T>A (p.Tyr610Asn)
n.2107T>A
16g.2115438G>ACA276782995PKD1c.2037C>T (p.Pro679=)
c.472+2051C>T
c.968C>T (n.968C>T)
c.2091C>T (p.Pro697=)
c.2019C>T (p.Pro673=)
c.1965C>T (p.Pro655=)
c.1884C>T (p.Pro628=)
c.1827C>T (p.Pro609=)
n.2106C>T
 dbSNP gnomAD v2 gnomAD v4
16g.2115438G>CCA493049660PKD1c.2037C>G (p.Pro679=)
c.472+2051C>G
c.968C>G (n.968C>G)
c.2091C>G (p.Pro697=)
c.2019C>G (p.Pro673=)
c.1965C>G (p.Pro655=)
c.1884C>G (p.Pro628=)
c.1827C>G (p.Pro609=)
n.2106C>G
 gnomAD v4
16g.2115438G=CA2202050357PKD1c.2037C= (p.Pro679=)
c.472+2051C=
c.968C= (n.968C=)
c.2091C= (p.Pro697=)
c.2019C= (p.Pro673=)
c.1965C= (p.Pro655=)
c.1884C= (p.Pro628=)
c.1827C= (p.Pro609=)
n.2106C=
16g.2115438G>TCA493049658PKD1c.2037C>A (p.Pro679=)
c.472+2051C>A
c.968C>A (n.968C>A)
c.2091C>A (p.Pro697=)
c.2019C>A (p.Pro673=)
c.1965C>A (p.Pro655=)
c.1884C>A (p.Pro628=)
c.1827C>A (p.Pro609=)
n.2106C>A
 gnomAD v4
16g.2115442dupCA2538872700PKD1c.2037dup (p.Tyr680LeufsTer?)
c.472+2051dup
c.968dup (n.968dup)
c.2091dup (p.Tyr698LeufsTer?)
c.2019dup (p.Tyr674LeufsTer?)
c.1965dup (p.Tyr656LeufsTer?)
c.1884dup (p.Tyr629LeufsTer?)
c.1827dup (p.Tyr610LeufsTer?)
n.2106dup
16g.2115442delCA2580613379PKD1c.2037del (p.Tyr680MetfsTer?)
c.472+2051del
c.968del (n.968del)
c.2091del (p.Tyr698MetfsTer?)
c.2019del (p.Tyr674MetfsTer?)
c.1965del (p.Tyr656MetfsTer?)
c.1884del (p.Tyr629MetfsTer?)
c.1827del (p.Tyr610MetfsTer?)
n.2106del
 ClinVar gnomAD v4
16g.2115439G>ACA394389617PKD1c.2036C>T (p.Pro679Leu)
c.472+2050C>T
c.967C>T (n.967C>T)
c.2090C>T (p.Pro697Leu)
c.2018C>T (p.Pro673Leu)
c.1964C>T (p.Pro655Leu)
c.1883C>T (p.Pro628Leu)
c.1826C>T (p.Pro609Leu)
n.2105C>T
16g.2115439G>CCA394389619PKD1c.2036C>G (p.Pro679Arg)
c.472+2050C>G
c.967C>G (n.967C>G)
c.2090C>G (p.Pro697Arg)
c.2018C>G (p.Pro673Arg)
c.1964C>G (p.Pro655Arg)
c.1883C>G (p.Pro628Arg)
c.1826C>G (p.Pro609Arg)
n.2105C>G
16g.2115439G=CA2202050358PKD1c.2036C= (p.Pro679=)
c.472+2050C=
c.967C= (n.967C=)
c.2090C= (p.Pro697=)
c.2018C= (p.Pro673=)
c.1964C= (p.Pro655=)
c.1883C= (p.Pro628=)
c.1826C= (p.Pro609=)
n.2105C=
16g.2115439G>TCA7833303PKD1c.2036C>A (p.Pro679His)
c.472+2050C>A
c.967C>A (n.967C>A)
c.2090C>A (p.Pro697His)
c.2018C>A (p.Pro673His)
c.1964C>A (p.Pro655His)
c.1883C>A (p.Pro628His)
c.1826C>A (p.Pro609His)
n.2105C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2115440G>ACA394389624PKD1c.2035C>T (p.Pro679Ser)
c.472+2049C>T
c.966C>T (n.966C>T)
c.2089C>T (p.Pro697Ser)
c.2017C>T (p.Pro673Ser)
c.1963C>T (p.Pro655Ser)
c.1882C>T (p.Pro628Ser)
c.1825C>T (p.Pro609Ser)
n.2104C>T
 gnomAD v4
16g.2115440G>CCA394389623PKD1c.2035C>G (p.Pro679Ala)
c.472+2049C>G
c.966C>G (n.966C>G)
c.2089C>G (p.Pro697Ala)
c.2017C>G (p.Pro673Ala)
c.1963C>G (p.Pro655Ala)
c.1882C>G (p.Pro628Ala)
c.1825C>G (p.Pro609Ala)
n.2104C>G
16g.2115440G>TCA394389621PKD1c.2035C>A (p.Pro679Thr)
c.472+2049C>A
c.966C>A (n.966C>A)
c.2089C>A (p.Pro697Thr)
c.2017C>A (p.Pro673Thr)
c.1963C>A (p.Pro655Thr)
c.1882C>A (p.Pro628Thr)
c.1825C>A (p.Pro609Thr)
n.2104C>A
 gnomAD v4
16g.2115441G>ACA493049672PKD1c.2034C>T (p.Ala678=)
c.472+2048C>T
c.965C>T (n.965C>T)
c.2088C>T (p.Ala696=)
c.2016C>T (p.Ala672=)
c.1962C>T (p.Ala654=)
c.1881C>T (p.Ala627=)
c.1824C>T (p.Ala608=)
n.2103C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2115441G>CCA493049674PKD1c.2034C>G (p.Ala678=)
c.472+2048C>G
c.965C>G (n.965C>G)
c.2088C>G (p.Ala696=)
c.2016C>G (p.Ala672=)
c.1962C>G (p.Ala654=)
c.1881C>G (p.Ala627=)
c.1824C>G (p.Ala608=)
n.2103C>G
16g.2115441G=CA2202050359PKD1c.2034C= (p.Ala678=)
c.472+2048C=
c.965C= (n.965C=)
c.2088C= (p.Ala696=)
c.2016C= (p.Ala672=)
c.1962C= (p.Ala654=)
c.1881C= (p.Ala627=)
c.1824C= (p.Ala608=)
n.2103C=
16g.2115441G>TCA493049673PKD1c.2034C>A (p.Ala678=)
c.472+2048C>A
c.965C>A (n.965C>A)
c.2088C>A (p.Ala696=)
c.2016C>A (p.Ala672=)
c.1962C>A (p.Ala654=)
c.1881C>A (p.Ala627=)
c.1824C>A (p.Ala608=)
n.2103C>A
16g.2115442G>ACA7833304PKD1c.2033C>T (p.Ala678Val)
c.472+2047C>T
c.964C>T (n.964C>T)
c.2087C>T (p.Ala696Val)
c.2015C>T (p.Ala672Val)
c.1961C>T (p.Ala654Val)
c.1880C>T (p.Ala627Val)
c.1823C>T (p.Ala608Val)
n.2102C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2115442G>CCA394389626PKD1c.2033C>G (p.Ala678Gly)
c.472+2047C>G
c.964C>G (n.964C>G)
c.2087C>G (p.Ala696Gly)
c.2015C>G (p.Ala672Gly)
c.1961C>G (p.Ala654Gly)
c.1880C>G (p.Ala627Gly)
c.1823C>G (p.Ala608Gly)
n.2102C>G
16g.2115442G=CA2202050360PKD1c.2033C= (p.Ala678=)
c.472+2047C=
c.964C= (n.964C=)
c.2087C= (p.Ala696=)
c.2015C= (p.Ala672=)
c.1961C= (p.Ala654=)
c.1880C= (p.Ala627=)
c.1823C= (p.Ala608=)
n.2102C=
16g.2115442G>TCA394389627PKD1c.2033C>A (p.Ala678Asp)
c.472+2047C>A
c.964C>A (n.964C>A)
c.2087C>A (p.Ala696Asp)
c.2015C>A (p.Ala672Asp)
c.1961C>A (p.Ala654Asp)
c.1880C>A (p.Ala627Asp)
c.1823C>A (p.Ala608Asp)
n.2102C>A
 dbSNP gnomAD v2 gnomAD v4
16g.2115442_2115443delinsGCCA2202050361PKD1c.2032_2033delinsGC (p.Ala678=)
c.472+2046_472+2047delinsGC
c.963_964delinsGC (n.963_964delinsGC)
c.2086_2087delinsGC (p.Ala696=)
c.2014_2015delinsGC (p.Ala672=)
c.1960_1961delinsGC (p.Ala654=)
c.1879_1880delinsGC (p.Ala627=)
c.1822_1823delinsGC (p.Ala608=)
n.2101_2102delinsGC
16g.2115443C>ACA394389629PKD1c.2032G>T (p.Ala678Ser)
c.472+2046G>T
c.963G>T (n.963G>T)
c.2086G>T (p.Ala696Ser)
c.2014G>T (p.Ala672Ser)
c.1960G>T (p.Ala654Ser)
c.1879G>T (p.Ala627Ser)
c.1822G>T (p.Ala608Ser)
n.2101G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2115443C=CA2202050362PKD1c.2032G= (p.Ala678=)
c.472+2046G=
c.963G= (n.963G=)
c.2086G= (p.Ala696=)
c.2014G= (p.Ala672=)
c.1960G= (p.Ala654=)
c.1879G= (p.Ala627=)
c.1822G= (p.Ala608=)
n.2101G=
16g.2115443C>GCA394389631PKD1c.2032G>C (p.Ala678Pro)
c.472+2046G>C
c.963G>C (n.963G>C)
c.2086G>C (p.Ala696Pro)
c.2014G>C (p.Ala672Pro)
c.1960G>C (p.Ala654Pro)
c.1879G>C (p.Ala627Pro)
c.1822G>C (p.Ala608Pro)
n.2101G>C
16g.2115443C>TCA7833305PKD1c.2032G>A (p.Ala678Thr)
c.472+2046G>A
c.963G>A (n.963G>A)
c.2086G>A (p.Ala696Thr)
c.2014G>A (p.Ala672Thr)
c.1960G>A (p.Ala654Thr)
c.1879G>A (p.Ala627Thr)
c.1822G>A (p.Ala608Thr)
n.2101G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2115446delCA493049688PKD1c.2032del (p.Ala678ProfsTer?)
c.472+2046del
c.963del (n.963del)
c.2086del (p.Ala696ProfsTer?)
c.2014del (p.Ala672ProfsTer?)
c.1960del (p.Ala654ProfsTer?)
c.1879del (p.Ala627ProfsTer?)
c.1822del (p.Ala608ProfsTer?)
n.2101del
 ClinVar dbSNP gnomAD v4
16g.2115444C>ACA493049689PKD1c.2031G>T (p.Gly677=)
c.472+2045G>T
c.962G>T (n.962G>T)
c.2085G>T (p.Gly695=)
c.2013G>T (p.Gly671=)
c.1959G>T (p.Gly653=)
c.1878G>T (p.Gly626=)
c.1821G>T (p.Gly607=)
n.2100G>T
 dbSNP gnomAD v4
16g.2115444C=CA2202050363PKD1c.2031G= (p.Gly677=)
c.472+2045G=
c.962G= (n.962G=)
c.2085G= (p.Gly695=)
c.2013G= (p.Gly671=)
c.1959G= (p.Gly653=)
c.1878G= (p.Gly626=)
c.1821G= (p.Gly607=)
n.2100G=
16g.2115444C>GCA493049692PKD1c.2031G>C (p.Gly677=)
c.472+2045G>C
c.962G>C (n.962G>C)
c.2085G>C (p.Gly695=)
c.2013G>C (p.Gly671=)
c.1959G>C (p.Gly653=)
c.1878G>C (p.Gly626=)
c.1821G>C (p.Gly607=)
n.2100G>C
16g.2115444C>TCA493049693PKD1c.2031G>A (p.Gly677=)
c.472+2045G>A
c.962G>A (n.962G>A)
c.2085G>A (p.Gly695=)
c.2013G>A (p.Gly671=)
c.1959G>A (p.Gly653=)
c.1878G>A (p.Gly626=)
c.1821G>A (p.Gly607=)
n.2100G>A
 gnomAD v4
16g.2115445C>ACA394389633PKD1c.2030G>T (p.Gly677Val)
c.472+2044G>T
c.961G>T (n.961G>T)
c.2084G>T (p.Gly695Val)
c.2012G>T (p.Gly671Val)
c.1958G>T (p.Gly653Val)
c.1877G>T (p.Gly626Val)
c.1820G>T (p.Gly607Val)
n.2099G>T
 gnomAD v4
16g.2115445C>GCA394389635PKD1c.2030G>C (p.Gly677Ala)
c.472+2044G>C
c.961G>C (n.961G>C)
c.2084G>C (p.Gly695Ala)
c.2012G>C (p.Gly671Ala)
c.1958G>C (p.Gly653Ala)
c.1877G>C (p.Gly626Ala)
c.1820G>C (p.Gly607Ala)
n.2099G>C
16g.2115445C>TCA394389636PKD1c.2030G>A (p.Gly677Glu)
c.472+2044G>A
c.961G>A (n.961G>A)
c.2084G>A (p.Gly695Glu)
c.2012G>A (p.Gly671Glu)
c.1958G>A (p.Gly653Glu)
c.1877G>A (p.Gly626Glu)
c.1820G>A (p.Gly607Glu)
n.2099G>A
16g.2115446C>ACA7833307PKD1c.2029G>T (p.Gly677Trp)
c.472+2043G>T
c.960G>T (n.960G>T)
c.2083G>T (p.Gly695Trp)
c.2011G>T (p.Gly671Trp)
c.1957G>T (p.Gly653Trp)
c.1876G>T (p.Gly626Trp)
c.1819G>T (p.Gly607Trp)
n.2098G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2115446C=CA2202050364PKD1c.2029G= (p.Gly677=)
c.472+2043G=
c.960G= (n.960G=)
c.2083G= (p.Gly695=)
c.2011G= (p.Gly671=)
c.1957G= (p.Gly653=)
c.1876G= (p.Gly626=)
c.1819G= (p.Gly607=)
n.2098G=
16g.2115446C>GCA394389638PKD1c.2029G>C (p.Gly677Arg)
c.472+2043G>C
c.960G>C (n.960G>C)
c.2083G>C (p.Gly695Arg)
c.2011G>C (p.Gly671Arg)
c.1957G>C (p.Gly653Arg)
c.1876G>C (p.Gly626Arg)
c.1819G>C (p.Gly607Arg)
n.2098G>C
16g.2115446C>TCA7833306PKD1c.2029G>A (p.Gly677Arg)
c.472+2043G>A
c.960G>A (n.960G>A)
c.2083G>A (p.Gly695Arg)
c.2011G>A (p.Gly671Arg)
c.1957G>A (p.Gly653Arg)
c.1876G>A (p.Gly626Arg)
c.1819G>A (p.Gly607Arg)
n.2098G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2115447G>ACA7833308PKD1c.2028C>T (p.Pro676=)
c.472+2042C>T
c.959C>T (n.959C>T)
c.2082C>T (p.Pro694=)
c.2010C>T (p.Pro670=)
c.1956C>T (p.Pro652=)
c.1875C>T (p.Pro625=)
c.1818C>T (p.Pro606=)
n.2097C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2115447G>CCA493049706PKD1c.2028C>G (p.Pro676=)
c.472+2042C>G
c.959C>G (n.959C>G)
c.2082C>G (p.Pro694=)
c.2010C>G (p.Pro670=)
c.1956C>G (p.Pro652=)
c.1875C>G (p.Pro625=)
c.1818C>G (p.Pro606=)
n.2097C>G
 dbSNP gnomAD v2 gnomAD v4
16g.2115447G=CA2202050365PKD1c.2028C= (p.Pro676=)
c.472+2042C=
c.959C= (n.959C=)
c.2082C= (p.Pro694=)
c.2010C= (p.Pro670=)
c.1956C= (p.Pro652=)
c.1875C= (p.Pro625=)
c.1818C= (p.Pro606=)
n.2097C=
16g.2115447G>TCA493049708PKD1c.2028C>A (p.Pro676=)
c.472+2042C>A
c.959C>A (n.959C>A)
c.2082C>A (p.Pro694=)
c.2010C>A (p.Pro670=)
c.1956C>A (p.Pro652=)
c.1875C>A (p.Pro625=)
c.1818C>A (p.Pro606=)
n.2097C>A
16g.2115448G>ACA7833309PKD1c.2027C>T (p.Pro676Leu)
c.472+2041C>T
c.958C>T (n.958C>T)
c.2081C>T (p.Pro694Leu)
c.2009C>T (p.Pro670Leu)
c.1955C>T (p.Pro652Leu)
c.1874C>T (p.Pro625Leu)
c.1817C>T (p.Pro606Leu)
n.2096C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2115448G>CCA394389643PKD1c.2027C>G (p.Pro676Arg)
c.472+2041C>G
c.958C>G (n.958C>G)
c.2081C>G (p.Pro694Arg)
c.2009C>G (p.Pro670Arg)
c.1955C>G (p.Pro652Arg)
c.1874C>G (p.Pro625Arg)
c.1817C>G (p.Pro606Arg)
n.2096C>G
16g.2115448G=CA2202050366PKD1c.2027C= (p.Pro676=)
c.472+2041C=
c.958C= (n.958C=)
c.2081C= (p.Pro694=)
c.2009C= (p.Pro670=)
c.1955C= (p.Pro652=)
c.1874C= (p.Pro625=)
c.1817C= (p.Pro606=)
n.2096C=
16g.2115448G>TCA394389641PKD1c.2027C>A (p.Pro676His)
c.472+2041C>A
c.958C>A (n.958C>A)
c.2081C>A (p.Pro694His)
c.2009C>A (p.Pro670His)
c.1955C>A (p.Pro652His)
c.1874C>A (p.Pro625His)
c.1817C>A (p.Pro606His)
n.2096C>A
16g.2115449G>ACA7833310PKD1c.2026C>T (p.Pro676Ser)
c.472+2040C>T
c.957C>T (n.957C>T)
c.2080C>T (p.Pro694Ser)
c.2008C>T (p.Pro670Ser)
c.1954C>T (p.Pro652Ser)
c.1873C>T (p.Pro625Ser)
c.1816C>T (p.Pro606Ser)
n.2095C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2115449G>CCA394389646PKD1c.2026C>G (p.Pro676Ala)
c.472+2040C>G
c.957C>G (n.957C>G)
c.2080C>G (p.Pro694Ala)
c.2008C>G (p.Pro670Ala)
c.1954C>G (p.Pro652Ala)
c.1873C>G (p.Pro625Ala)
c.1816C>G (p.Pro606Ala)
n.2095C>G
 dbSNP gnomAD v4
16g.2115449G=CA2202050367PKD1c.2026C= (p.Pro676=)
c.472+2040C=
c.957C= (n.957C=)
c.2080C= (p.Pro694=)
c.2008C= (p.Pro670=)
c.1954C= (p.Pro652=)
c.1873C= (p.Pro625=)
c.1816C= (p.Pro606=)
n.2095C=
16g.2115449G>TCA394389647PKD1c.2026C>A (p.Pro676Thr)
c.472+2040C>A
c.957C>A (n.957C>A)
c.2080C>A (p.Pro694Thr)
c.2008C>A (p.Pro670Thr)
c.1954C>A (p.Pro652Thr)
c.1873C>A (p.Pro625Thr)
c.1816C>A (p.Pro606Thr)
n.2095C>A
 gnomAD v4
16g.2115450T>ACA7833311PKD1c.2025A>T (p.Leu675=)
c.472+2039A>T
c.956A>T (n.956A>T)
c.2079A>T (p.Leu693=)
c.2007A>T (p.Leu669=)
c.1953A>T (p.Leu651=)
c.1872A>T (p.Leu624=)
c.1815A>T (p.Leu605=)
n.2094A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2115450T>CCA493049720PKD1c.2025A>G (p.Leu675=)
c.472+2039A>G
c.956A>G (n.956A>G)
c.2079A>G (p.Leu693=)
c.2007A>G (p.Leu669=)
c.1953A>G (p.Leu651=)
c.1872A>G (p.Leu624=)
c.1815A>G (p.Leu605=)
n.2094A>G
 dbSNP gnomAD v2 gnomAD v4
16g.2115450T>GCA493049721PKD1c.2025A>C (p.Leu675=)
c.472+2039A>C
c.956A>C (n.956A>C)
c.2079A>C (p.Leu693=)
c.2007A>C (p.Leu669=)
c.1953A>C (p.Leu651=)
c.1872A>C (p.Leu624=)
c.1815A>C (p.Leu605=)
n.2094A>C
16g.2115450T=CA2202050368PKD1c.2025A= (p.Leu675=)
c.472+2039A=
c.956A= (n.956A=)
c.2079A= (p.Leu693=)
c.2007A= (p.Leu669=)
c.1953A= (p.Leu651=)
c.1872A= (p.Leu624=)
c.1815A= (p.Leu605=)
n.2094A=
16g.2115451_2115456dupCA493049726PKD1c.2020_2025dup (p.Leu675_Pro676insGlyLeu)
c.472+2034_472+2039dup
c.951_956dup (n.951_956dup)
c.2074_2079dup (p.Leu693_Pro694insGlyLeu)
c.2002_2007dup (p.Leu669_Pro670insGlyLeu)
c.1948_1953dup (p.Leu651_Pro652insGlyLeu)
c.1867_1872dup (p.Leu624_Pro625insGlyLeu)
c.1810_1815dup (p.Leu605_Pro606insGlyLeu)
n.2089_2094dup
 ClinVar dbSNP gnomAD v4
16g.2115451A=CA2202050369PKD1c.2024T= (p.Leu675=)
c.472+2038T=
c.955T= (n.955T=)
c.2078T= (p.Leu693=)
c.2006T= (p.Leu669=)
c.1952T= (p.Leu651=)
c.1871T= (p.Leu624=)
c.1814T= (p.Leu605=)
n.2093T=
16g.2115451A>CCA394389650PKD1c.2024T>G (p.Leu675Arg)
c.472+2038T>G
c.955T>G (n.955T>G)
c.2078T>G (p.Leu693Arg)
c.2006T>G (p.Leu669Arg)
c.1952T>G (p.Leu651Arg)
c.1871T>G (p.Leu624Arg)
c.1814T>G (p.Leu605Arg)
n.2093T>G
16g.2115451A>GCA7833312PKD1c.2024T>C (p.Leu675Pro)
c.472+2038T>C
c.955T>C (n.955T>C)
c.2078T>C (p.Leu693Pro)
c.2006T>C (p.Leu669Pro)
c.1952T>C (p.Leu651Pro)
c.1871T>C (p.Leu624Pro)
c.1814T>C (p.Leu605Pro)
n.2093T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2115451A>TCA394389652PKD1c.2024T>A (p.Leu675Gln)
c.472+2038T>A
c.955T>A (n.955T>A)
c.2078T>A (p.Leu693Gln)
c.2006T>A (p.Leu669Gln)
c.1952T>A (p.Leu651Gln)
c.1871T>A (p.Leu624Gln)
c.1814T>A (p.Leu605Gln)
n.2093T>A
16g.2115452G>ACA7833313PKD1c.2023C>T (p.Leu675=)
c.472+2037C>T
c.954C>T (n.954C>T)
c.2077C>T (p.Leu693=)
c.2005C>T (p.Leu669=)
c.1951C>T (p.Leu651=)
c.1870C>T (p.Leu624=)
c.1813C>T (p.Leu605=)
n.2092C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2115452G>CCA394389653PKD1c.2023C>G (p.Leu675Val)
c.472+2037C>G
c.954C>G (n.954C>G)
c.2077C>G (p.Leu693Val)
c.2005C>G (p.Leu669Val)
c.1951C>G (p.Leu651Val)
c.1870C>G (p.Leu624Val)
c.1813C>G (p.Leu605Val)
n.2092C>G
16g.2115452G=CA2202050370PKD1c.2023C= (p.Leu675=)
c.472+2037C=
c.954C= (n.954C=)
c.2077C= (p.Leu693=)
c.2005C= (p.Leu669=)
c.1951C= (p.Leu651=)
c.1870C= (p.Leu624=)
c.1813C= (p.Leu605=)
n.2092C=
16g.2115452G>TCA394389655PKD1c.2023C>A (p.Leu675Ile)
c.472+2037C>A
c.954C>A (n.954C>A)
c.2077C>A (p.Leu693Ile)
c.2005C>A (p.Leu669Ile)
c.1951C>A (p.Leu651Ile)
c.1870C>A (p.Leu624Ile)
c.1813C>A (p.Leu605Ile)
n.2092C>A
16g.2115453C>ACA7833314PKD1c.2022G>T (p.Gly674=)
c.472+2036G>T
c.953G>T (n.953G>T)
c.2076G>T (p.Gly692=)
c.2004G>T (p.Gly668=)
c.1950G>T (p.Gly650=)
c.1869G>T (p.Gly623=)
c.1812G>T (p.Gly604=)
n.2091G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2115453C=CA2202050371PKD1c.2022G= (p.Gly674=)
c.472+2036G=
c.953G= (n.953G=)
c.2076G= (p.Gly692=)
c.2004G= (p.Gly668=)
c.1950G= (p.Gly650=)
c.1869G= (p.Gly623=)
c.1812G= (p.Gly604=)
n.2091G=
16g.2115453C>GCA493049736PKD1c.2022G>C (p.Gly674=)
c.472+2036G>C
c.953G>C (n.953G>C)
c.2076G>C (p.Gly692=)
c.2004G>C (p.Gly668=)
c.1950G>C (p.Gly650=)
c.1869G>C (p.Gly623=)
c.1812G>C (p.Gly604=)
n.2091G>C
16g.2115453C>TCA493049741PKD1c.2022G>A (p.Gly674=)
c.472+2036G>A
c.953G>A (n.953G>A)
c.2076G>A (p.Gly692=)
c.2004G>A (p.Gly668=)
c.1950G>A (p.Gly650=)
c.1869G>A (p.Gly623=)
c.1812G>A (p.Gly604=)
n.2091G>A
16g.2115454C>ACA394389657PKD1c.2021G>T (p.Gly674Val)
c.472+2035G>T
c.952G>T (n.952G>T)
c.2075G>T (p.Gly692Val)
c.2003G>T (p.Gly668Val)
c.1949G>T (p.Gly650Val)
c.1868G>T (p.Gly623Val)
c.1811G>T (p.Gly604Val)
n.2090G>T
 gnomAD v4
16g.2115454C>GCA394389659PKD1c.2021G>C (p.Gly674Ala)
c.472+2035G>C
c.952G>C (n.952G>C)
c.2075G>C (p.Gly692Ala)
c.2003G>C (p.Gly668Ala)
c.1949G>C (p.Gly650Ala)
c.1868G>C (p.Gly623Ala)
c.1811G>C (p.Gly604Ala)
n.2090G>C
16g.2115454C>TCA394389660PKD1c.2021G>A (p.Gly674Glu)
c.472+2035G>A
c.952G>A (n.952G>A)
c.2075G>A (p.Gly692Glu)
c.2003G>A (p.Gly668Glu)
c.1949G>A (p.Gly650Glu)
c.1868G>A (p.Gly623Glu)
c.1811G>A (p.Gly604Glu)
n.2090G>A
 gnomAD v4
16g.2115455C>ACA394389663PKD1c.2020G>T (p.Gly674Trp)
c.472+2034G>T
c.951G>T (n.951G>T)
c.2074G>T (p.Gly692Trp)
c.2002G>T (p.Gly668Trp)
c.1948G>T (p.Gly650Trp)
c.1867G>T (p.Gly623Trp)
c.1810G>T (p.Gly604Trp)
n.2089G>T
 gnomAD v4
16g.2115455C>GCA394389662PKD1c.2020G>C (p.Gly674Arg)
c.472+2034G>C
c.951G>C (n.951G>C)
c.2074G>C (p.Gly692Arg)
c.2002G>C (p.Gly668Arg)
c.1948G>C (p.Gly650Arg)
c.1867G>C (p.Gly623Arg)
c.1810G>C (p.Gly604Arg)
n.2089G>C
16g.2115455C>TCA394389661PKD1c.2020G>A (p.Gly674Arg)
c.472+2034G>A
c.951G>A (n.951G>A)
c.2074G>A (p.Gly692Arg)
c.2002G>A (p.Gly668Arg)
c.1948G>A (p.Gly650Arg)
c.1867G>A (p.Gly623Arg)
c.1810G>A (p.Gly604Arg)
n.2089G>A
16g.2115456T>ACA493049751PKD1c.2019A>T (p.Pro673=)
c.472+2033A>T
c.950A>T (n.950A>T)
c.2073A>T (p.Pro691=)
c.2001A>T (p.Pro667=)
c.1947A>T (p.Pro649=)
c.1866A>T (p.Pro622=)
c.1809A>T (p.Pro603=)
n.2088A>T
16g.2115456T>CCA493049749PKD1c.2019A>G (p.Pro673=)
c.472+2033A>G
c.950A>G (n.950A>G)
c.2073A>G (p.Pro691=)
c.2001A>G (p.Pro667=)
c.1947A>G (p.Pro649=)
c.1866A>G (p.Pro622=)
c.1809A>G (p.Pro603=)
n.2088A>G
 dbSNP gnomAD v4
16g.2115456T>GCA493049752PKD1c.2019A>C (p.Pro673=)
c.472+2033A>C
c.950A>C (n.950A>C)
c.2073A>C (p.Pro691=)
c.2001A>C (p.Pro667=)
c.1947A>C (p.Pro649=)
c.1866A>C (p.Pro622=)
c.1809A>C (p.Pro603=)
n.2088A>C
16g.2115456T=CA2202050372PKD1c.2019A= (p.Pro673=)
c.472+2033A=
c.950A= (n.950A=)
c.2073A= (p.Pro691=)
c.2001A= (p.Pro667=)
c.1947A= (p.Pro649=)
c.1866A= (p.Pro622=)
c.1809A= (p.Pro603=)
n.2088A=
16g.2115457G>ACA394389664PKD1c.2018C>T (p.Pro673Leu)
c.472+2032C>T
c.949C>T (n.949C>T)
c.2072C>T (p.Pro691Leu)
c.2000C>T (p.Pro667Leu)
c.1946C>T (p.Pro649Leu)
c.1865C>T (p.Pro622Leu)
c.1808C>T (p.Pro603Leu)
n.2087C>T
 dbSNP gnomAD v3 gnomAD v4
16g.2115457G>CCA7833315PKD1c.2018C>G (p.Pro673Arg)
c.472+2032C>G
c.949C>G (n.949C>G)
c.2072C>G (p.Pro691Arg)
c.2000C>G (p.Pro667Arg)
c.1946C>G (p.Pro649Arg)
c.1865C>G (p.Pro622Arg)
c.1808C>G (p.Pro603Arg)
n.2087C>G
 dbSNP ExAC
16g.2115457G=CA2202050373PKD1c.2018C= (p.Pro673=)
c.472+2032C=
c.949C= (n.949C=)
c.2072C= (p.Pro691=)
c.2000C= (p.Pro667=)
c.1946C= (p.Pro649=)
c.1865C= (p.Pro622=)
c.1808C= (p.Pro603=)
n.2087C=
16g.2115457G>TCA394389665PKD1c.2018C>A (p.Pro673Gln)
c.472+2032C>A
c.949C>A (n.949C>A)
c.2072C>A (p.Pro691Gln)
c.2000C>A (p.Pro667Gln)
c.1946C>A (p.Pro649Gln)
c.1865C>A (p.Pro622Gln)
c.1808C>A (p.Pro603Gln)
n.2087C>A
16g.2115458G>ACA394389666PKD1c.2017C>T (p.Pro673Ser)
c.472+2031C>T
c.948C>T (n.948C>T)
c.2071C>T (p.Pro691Ser)
c.1999C>T (p.Pro667Ser)
c.1945C>T (p.Pro649Ser)
c.1864C>T (p.Pro622Ser)
c.1807C>T (p.Pro603Ser)
n.2086C>T
 dbSNP gnomAD v2 gnomAD v4
16g.2115458G>CCA7833316PKD1c.2017C>G (p.Pro673Ala)
c.472+2031C>G
c.948C>G (n.948C>G)
c.2071C>G (p.Pro691Ala)
c.1999C>G (p.Pro667Ala)
c.1945C>G (p.Pro649Ala)
c.1864C>G (p.Pro622Ala)
c.1807C>G (p.Pro603Ala)
n.2086C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2115458G=CA2202050374PKD1c.2017C= (p.Pro673=)
c.472+2031C=
c.948C= (n.948C=)
c.2071C= (p.Pro691=)
c.1999C= (p.Pro667=)
c.1945C= (p.Pro649=)
c.1864C= (p.Pro622=)
c.1807C= (p.Pro603=)
n.2086C=
16g.2115458G>TCA394389668PKD1c.2017C>A (p.Pro673Thr)
c.472+2031C>A
c.948C>A (n.948C>A)
c.2071C>A (p.Pro691Thr)
c.1999C>A (p.Pro667Thr)
c.1945C>A (p.Pro649Thr)
c.1864C>A (p.Pro622Thr)
c.1807C>A (p.Pro603Thr)
n.2086C>A
 ClinVar
16g.2115459C>ACA493049756PKD1c.2016G>T (p.Gly672=)
c.472+2030G>T
c.947G>T (n.947G>T)
c.2070G>T (p.Gly690=)
c.1998G>T (p.Gly666=)
c.1944G>T (p.Gly648=)
c.1863G>T (p.Gly621=)
c.1806G>T (p.Gly602=)
n.2085G>T
 gnomAD v4
16g.2115459C=CA2202050375PKD1c.2016G= (p.Gly672=)
c.472+2030G=
c.947G= (n.947G=)
c.2070G= (p.Gly690=)
c.1998G= (p.Gly666=)
c.1944G= (p.Gly648=)
c.1863G= (p.Gly621=)
c.1806G= (p.Gly602=)
n.2085G=
16g.2115459C>GCA493049758PKD1c.2016G>C (p.Gly672=)
c.472+2030G>C
c.947G>C (n.947G>C)
c.2070G>C (p.Gly690=)
c.1998G>C (p.Gly666=)
c.1944G>C (p.Gly648=)
c.1863G>C (p.Gly621=)
c.1806G>C (p.Gly602=)
n.2085G>C
16g.2115459C>TCA7833317PKD1c.2016G>A (p.Gly672=)
c.472+2030G>A
c.947G>A (n.947G>A)
c.2070G>A (p.Gly690=)
c.1998G>A (p.Gly666=)
c.1944G>A (p.Gly648=)
c.1863G>A (p.Gly621=)
c.1806G>A (p.Gly602=)
n.2085G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2115461dupCA2695222584PKD1c.2016dup (p.Pro673AlafsTer?)
c.472+2030dup
c.947dup (n.947dup)
c.2070dup (p.Pro691AlafsTer?)
c.1998dup (p.Pro667AlafsTer?)
c.1944dup (p.Pro649AlafsTer?)
c.1863dup (p.Pro622AlafsTer?)
c.1806dup (p.Pro603AlafsTer?)
n.2085dup
16g.2115460C>ACA394389670PKD1c.2015G>T (p.Gly672Val)
c.472+2029G>T
c.946G>T (n.946G>T)
c.2069G>T (p.Gly690Val)
c.1997G>T (p.Gly666Val)
c.1943G>T (p.Gly648Val)
c.1862G>T (p.Gly621Val)
c.1805G>T (p.Gly602Val)
n.2084G>T
 dbSNP gnomAD v3 gnomAD v4
16g.2115460C=CA2202050376PKD1c.2015G= (p.Gly672=)
c.472+2029G=
c.946G= (n.946G=)
c.2069G= (p.Gly690=)
c.1997G= (p.Gly666=)
c.1943G= (p.Gly648=)
c.1862G= (p.Gly621=)
c.1805G= (p.Gly602=)
n.2084G=
16g.2115460C>GCA394389671PKD1c.2015G>C (p.Gly672Ala)
c.472+2029G>C
c.946G>C (n.946G>C)
c.2069G>C (p.Gly690Ala)
c.1997G>C (p.Gly666Ala)
c.1943G>C (p.Gly648Ala)
c.1862G>C (p.Gly621Ala)
c.1805G>C (p.Gly602Ala)
n.2084G>C
16g.2115460C>TCA394389673PKD1c.2015G>A (p.Gly672Glu)
c.472+2029G>A
c.946G>A (n.946G>A)
c.2069G>A (p.Gly690Glu)
c.1997G>A (p.Gly666Glu)
c.1943G>A (p.Gly648Glu)
c.1862G>A (p.Gly621Glu)
c.1805G>A (p.Gly602Glu)
n.2084G>A
 dbSNP gnomAD v2 gnomAD v4
16g.2115461C>ACA394389675PKD1c.2014G>T (p.Gly672Trp)
c.472+2028G>T
c.945G>T (n.945G>T)
c.2068G>T (p.Gly690Trp)
c.1996G>T (p.Gly666Trp)
c.1942G>T (p.Gly648Trp)
c.1861G>T (p.Gly621Trp)
c.1804G>T (p.Gly602Trp)
n.2083G>T
 gnomAD v4
16g.2115461C=CA2202050377PKD1c.2014G= (p.Gly672=)
c.472+2028G=
c.945G= (n.945G=)
c.2068G= (p.Gly690=)
c.1996G= (p.Gly666=)
c.1942G= (p.Gly648=)
c.1861G= (p.Gly621=)
c.1804G= (p.Gly602=)
n.2083G=
16g.2115461C>GCA394389677PKD1c.2014G>C (p.Gly672Arg)
c.472+2028G>C
c.945G>C (n.945G>C)
c.2068G>C (p.Gly690Arg)
c.1996G>C (p.Gly666Arg)
c.1942G>C (p.Gly648Arg)
c.1861G>C (p.Gly621Arg)
c.1804G>C (p.Gly602Arg)
n.2083G>C
16g.2115461C>TCA394389678PKD1c.2014G>A (p.Gly672Arg)
c.472+2028G>A
c.945G>A (n.945G>A)
c.2068G>A (p.Gly690Arg)
c.1996G>A (p.Gly666Arg)
c.1942G>A (p.Gly648Arg)
c.1861G>A (p.Gly621Arg)
c.1804G>A (p.Gly602Arg)
n.2083G>A
 dbSNP gnomAD v4
16g.2115462T>ACA493049766PKD1c.2013A>T (p.Ser671=)
c.472+2027A>T
c.944A>T (n.944A>T)
c.2067A>T (p.Ser689=)
c.1995A>T (p.Ser665=)
c.1941A>T (p.Ser647=)
c.1860A>T (p.Ser620=)
c.1803A>T (p.Ser601=)
n.2082A>T
 gnomAD v4
16g.2115462T>CCA493049767PKD1c.2013A>G (p.Ser671=)
c.472+2027A>G
c.944A>G (n.944A>G)
c.2067A>G (p.Ser689=)
c.1995A>G (p.Ser665=)
c.1941A>G (p.Ser647=)
c.1860A>G (p.Ser620=)
c.1803A>G (p.Ser601=)
n.2082A>G
16g.2115462T>GCA493049768PKD1c.2013A>C (p.Ser671=)
c.472+2027A>C
c.944A>C (n.944A>C)
c.2067A>C (p.Ser689=)
c.1995A>C (p.Ser665=)
c.1941A>C (p.Ser647=)
c.1860A>C (p.Ser620=)
c.1803A>C (p.Ser601=)
n.2082A>C
16g.2115464_2115468delCA2575879156PKD1c.2009_2013del (p.Thr670ArgfsTer?)
c.472+2023_472+2027del
c.940_944del (n.940_944del)
c.2063_2067del (p.Thr688ArgfsTer?)
c.1991_1995del (p.Thr664ArgfsTer?)
c.1937_1941del (p.Thr646ArgfsTer?)
c.1856_1860del (p.Thr619ArgfsTer?)
c.1799_1803del (p.Thr600ArgfsTer?)
n.2078_2082del
16g.2115463G>ACA7833318PKD1c.2012C>T (p.Ser671Leu)
c.472+2026C>T
c.943C>T (n.943C>T)
c.2066C>T (p.Ser689Leu)
c.1994C>T (p.Ser665Leu)
c.1940C>T (p.Ser647Leu)
c.1859C>T (p.Ser620Leu)
c.1802C>T (p.Ser601Leu)
n.2081C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2115463G>CCA394389679PKD1c.2012C>G (p.Ser671Ter)
c.472+2026C>G
c.943C>G (n.943C>G)
c.2066C>G (p.Ser689Ter)
c.1994C>G (p.Ser665Ter)
c.1940C>G (p.Ser647Ter)
c.1859C>G (p.Ser620Ter)
c.1802C>G (p.Ser601Ter)
n.2081C>G
 ClinVar dbSNP
16g.2115463G=CA2202050378PKD1c.2012C= (p.Ser671=)
c.472+2026C=
c.943C= (n.943C=)
c.2066C= (p.Ser689=)
c.1994C= (p.Ser665=)
c.1940C= (p.Ser647=)
c.1859C= (p.Ser620=)
c.1802C= (p.Ser601=)
n.2081C=
16g.2115463G>TCA394389681PKD1c.2012C>A (p.Ser671Ter)
c.472+2026C>A
c.943C>A (n.943C>A)
c.2066C>A (p.Ser689Ter)
c.1994C>A (p.Ser665Ter)
c.1940C>A (p.Ser647Ter)
c.1859C>A (p.Ser620Ter)
c.1802C>A (p.Ser601Ter)
n.2081C>A
 gnomAD v4
16g.2115464A>CCA394389683PKD1c.2011T>G (p.Ser671Ala)
c.472+2025T>G
c.942T>G (n.942T>G)
c.2065T>G (p.Ser689Ala)
c.1993T>G (p.Ser665Ala)
c.1939T>G (p.Ser647Ala)
c.1858T>G (p.Ser620Ala)
c.1801T>G (p.Ser601Ala)
n.2080T>G
16g.2115464A>GCA394389685PKD1c.2011T>C (p.Ser671Pro)
c.472+2025T>C
c.942T>C (n.942T>C)
c.2065T>C (p.Ser689Pro)
c.1993T>C (p.Ser665Pro)
c.1939T>C (p.Ser647Pro)
c.1858T>C (p.Ser620Pro)
c.1801T>C (p.Ser601Pro)
n.2080T>C
16g.2115464A>TCA394389686PKD1c.2011T>A (p.Ser671Thr)
c.472+2025T>A
c.942T>A (n.942T>A)
c.2065T>A (p.Ser689Thr)
c.1993T>A (p.Ser665Thr)
c.1939T>A (p.Ser647Thr)
c.1858T>A (p.Ser620Thr)
c.1801T>A (p.Ser601Thr)
n.2080T>A
16g.2115465C>ACA493049776PKD1c.2010G>T (p.Thr670=)
c.472+2024G>T
c.941G>T (n.941G>T)
c.2064G>T (p.Thr688=)
c.1992G>T (p.Thr664=)
c.1938G>T (p.Thr646=)
c.1857G>T (p.Thr619=)
c.1800G>T (p.Thr600=)
n.2079G>T
 gnomAD v4
16g.2115465C=CA2202050379PKD1c.2010G= (p.Thr670=)
c.472+2024G=
c.941G= (n.941G=)
c.2064G= (p.Thr688=)
c.1992G= (p.Thr664=)
c.1938G= (p.Thr646=)
c.1857G= (p.Thr619=)
c.1800G= (p.Thr600=)
n.2079G=
16g.2115465C>GCA493049777PKD1c.2010G>C (p.Thr670=)
c.472+2024G>C
c.941G>C (n.941G>C)
c.2064G>C (p.Thr688=)
c.1992G>C (p.Thr664=)
c.1938G>C (p.Thr646=)
c.1857G>C (p.Thr619=)
c.1800G>C (p.Thr600=)
n.2079G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2115465C>TCA7833319PKD1c.2010G>A (p.Thr670=)
c.472+2024G>A
c.941G>A (n.941G>A)
c.2064G>A (p.Thr688=)
c.1992G>A (p.Thr664=)
c.1938G>A (p.Thr646=)
c.1857G>A (p.Thr619=)
c.1800G>A (p.Thr600=)
n.2079G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2115466G>ACA7833320PKD1c.2009C>T (p.Thr670Met)
c.472+2023C>T
c.940C>T (n.940C>T)
c.2063C>T (p.Thr688Met)
c.1991C>T (p.Thr664Met)
c.1937C>T (p.Thr646Met)
c.1856C>T (p.Thr619Met)
c.1799C>T (p.Thr600Met)
n.2078C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2115466G>CCA394389687PKD1c.2009C>G (p.Thr670Arg)
c.472+2023C>G
c.940C>G (n.940C>G)
c.2063C>G (p.Thr688Arg)
c.1991C>G (p.Thr664Arg)
c.1937C>G (p.Thr646Arg)
c.1856C>G (p.Thr619Arg)
c.1799C>G (p.Thr600Arg)
n.2078C>G
16g.2115466G=CA2202050380PKD1c.2009C= (p.Thr670=)
c.472+2023C=
c.940C= (n.940C=)
c.2063C= (p.Thr688=)
c.1991C= (p.Thr664=)
c.1937C= (p.Thr646=)
c.1856C= (p.Thr619=)
c.1799C= (p.Thr600=)
n.2078C=
16g.2115466G>TCA394389688PKD1c.2009C>A (p.Thr670Lys)
c.472+2023C>A
c.940C>A (n.940C>A)
c.2063C>A (p.Thr688Lys)
c.1991C>A (p.Thr664Lys)
c.1937C>A (p.Thr646Lys)
c.1856C>A (p.Thr619Lys)
c.1799C>A (p.Thr600Lys)
n.2078C>A
 gnomAD v4
16g.2115467T>ACA394389690PKD1c.2008A>T (p.Thr670Ser)
c.472+2022A>T
c.939A>T (n.939A>T)
c.2062A>T (p.Thr688Ser)
c.1990A>T (p.Thr664Ser)
c.1936A>T (p.Thr646Ser)
c.1855A>T (p.Thr619Ser)
c.1798A>T (p.Thr600Ser)
n.2077A>T
16g.2115467T>CCA394389691PKD1c.2008A>G (p.Thr670Ala)
c.472+2022A>G
c.939A>G (n.939A>G)
c.2062A>G (p.Thr688Ala)
c.1990A>G (p.Thr664Ala)
c.1936A>G (p.Thr646Ala)
c.1855A>G (p.Thr619Ala)
c.1798A>G (p.Thr600Ala)
n.2077A>G
16g.2115467T>GCA394389692PKD1c.2008A>C (p.Thr670Pro)
c.472+2022A>C
c.939A>C (n.939A>C)
c.2062A>C (p.Thr688Pro)
c.1990A>C (p.Thr664Pro)
c.1936A>C (p.Thr646Pro)
c.1855A>C (p.Thr619Pro)
c.1798A>C (p.Thr600Pro)
n.2077A>C
16g.2115468G>ACA493049789PKD1c.2007C>T (p.Cys669=)
c.472+2021C>T
c.938C>T (n.938C>T)
c.2061C>T (p.Cys687=)
c.1989C>T (p.Cys663=)
c.1935C>T (p.Cys645=)
c.1854C>T (p.Cys618=)
c.1797C>T (p.Cys599=)
n.2076C>T
 gnomAD v4
16g.2115468G>CCA394389693PKD1c.2007C>G (p.Cys669Trp)
c.472+2021C>G
c.938C>G (n.938C>G)
c.2061C>G (p.Cys687Trp)
c.1989C>G (p.Cys663Trp)
c.1935C>G (p.Cys645Trp)
c.1854C>G (p.Cys618Trp)
c.1797C>G (p.Cys599Trp)
n.2076C>G
16g.2115468G>TCA394389695PKD1c.2007C>A (p.Cys669Ter)
c.472+2021C>A
c.938C>A (n.938C>A)
c.2061C>A (p.Cys687Ter)
c.1989C>A (p.Cys663Ter)
c.1935C>A (p.Cys645Ter)
c.1854C>A (p.Cys618Ter)
c.1797C>A (p.Cys599Ter)
n.2076C>A
 gnomAD v4
16g.2115469C>ACA394389696PKD1c.2006G>T (p.Cys669Phe)
c.472+2020G>T
c.937G>T (n.937G>T)
c.2060G>T (p.Cys687Phe)
c.1988G>T (p.Cys663Phe)
c.1934G>T (p.Cys645Phe)
c.1853G>T (p.Cys618Phe)
c.1796G>T (p.Cys599Phe)
n.2075G>T
16g.2115469C>GCA394389699PKD1c.2006G>C (p.Cys669Ser)
c.472+2020G>C
c.937G>C (n.937G>C)
c.2060G>C (p.Cys687Ser)
c.1988G>C (p.Cys663Ser)
c.1934G>C (p.Cys645Ser)
c.1853G>C (p.Cys618Ser)
c.1796G>C (p.Cys599Ser)
n.2075G>C
16g.2115469C>TCA394389697PKD1c.2006G>A (p.Cys669Tyr)
c.472+2020G>A
c.937G>A (n.937G>A)
c.2060G>A (p.Cys687Tyr)
c.1988G>A (p.Cys663Tyr)
c.1934G>A (p.Cys645Tyr)
c.1853G>A (p.Cys618Tyr)
c.1796G>A (p.Cys599Tyr)
n.2075G>A
 gnomAD v4
16g.2115470A>CCA394389700PKD1c.2005T>G (p.Cys669Gly)
c.472+2019T>G
c.936T>G (n.936T>G)
c.2059T>G (p.Cys687Gly)
c.1987T>G (p.Cys663Gly)
c.1933T>G (p.Cys645Gly)
c.1852T>G (p.Cys618Gly)
c.1795T>G (p.Cys599Gly)
n.2074T>G
16g.2115470A>GCA394389703PKD1c.2005T>C (p.Cys669Arg)
c.472+2019T>C
c.936T>C (n.936T>C)
c.2059T>C (p.Cys687Arg)
c.1987T>C (p.Cys663Arg)
c.1933T>C (p.Cys645Arg)
c.1852T>C (p.Cys618Arg)
c.1795T>C (p.Cys599Arg)
n.2074T>C
 gnomAD v4
16g.2115470A>TCA394389702PKD1c.2005T>A (p.Cys669Ser)
c.472+2019T>A
c.936T>A (n.936T>A)
c.2059T>A (p.Cys687Ser)
c.1987T>A (p.Cys663Ser)
c.1933T>A (p.Cys645Ser)
c.1852T>A (p.Cys618Ser)
c.1795T>A (p.Cys599Ser)
n.2074T>A
16g.2115471G>ACA7833321PKD1c.2004C>T (p.Gly668=)
c.472+2018C>T
c.935C>T (n.935C>T)
c.2058C>T (p.Gly686=)
c.1986C>T (p.Gly662=)
c.1932C>T (p.Gly644=)
c.1851C>T (p.Gly617=)
c.1794C>T (p.Gly598=)
n.2073C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2115471G>CCA493049797PKD1c.2004C>G (p.Gly668=)
c.472+2018C>G
c.935C>G (n.935C>G)
c.2058C>G (p.Gly686=)
c.1986C>G (p.Gly662=)
c.1932C>G (p.Gly644=)
c.1851C>G (p.Gly617=)
c.1794C>G (p.Gly598=)
n.2073C>G
16g.2115471G=CA2202050381PKD1c.2004C= (p.Gly668=)
c.472+2018C=
c.935C= (n.935C=)
c.2058C= (p.Gly686=)
c.1986C= (p.Gly662=)
c.1932C= (p.Gly644=)
c.1851C= (p.Gly617=)
c.1794C= (p.Gly598=)
n.2073C=
16g.2115471G>TCA493049796PKD1c.2004C>A (p.Gly668=)
c.472+2018C>A
c.935C>A (n.935C>A)
c.2058C>A (p.Gly686=)
c.1986C>A (p.Gly662=)
c.1932C>A (p.Gly644=)
c.1851C>A (p.Gly617=)
c.1794C>A (p.Gly598=)
n.2073C>A
 gnomAD v4
16g.2115472C>ACA394389706PKD1c.2003G>T (p.Gly668Val)
c.472+2017G>T
c.934G>T (n.934G>T)
c.2057G>T (p.Gly686Val)
c.1985G>T (p.Gly662Val)
c.1931G>T (p.Gly644Val)
c.1850G>T (p.Gly617Val)
c.1793G>T (p.Gly598Val)
n.2072G>T
 gnomAD v4
16g.2115472C>GCA394389707PKD1c.2003G>C (p.Gly668Ala)
c.472+2017G>C
c.934G>C (n.934G>C)
c.2057G>C (p.Gly686Ala)
c.1985G>C (p.Gly662Ala)
c.1931G>C (p.Gly644Ala)
c.1850G>C (p.Gly617Ala)
c.1793G>C (p.Gly598Ala)
n.2072G>C
16g.2115472C>TCA394389709PKD1c.2003G>A (p.Gly668Asp)
c.472+2017G>A
c.934G>A (n.934G>A)
c.2057G>A (p.Gly686Asp)
c.1985G>A (p.Gly662Asp)
c.1931G>A (p.Gly644Asp)
c.1850G>A (p.Gly617Asp)
c.1793G>A (p.Gly598Asp)
n.2072G>A
 gnomAD v4
16g.2115473C>ACA394389710PKD1c.2002G>T (p.Gly668Cys)
c.472+2016G>T
c.933G>T (n.933G>T)
c.2056G>T (p.Gly686Cys)
c.1984G>T (p.Gly662Cys)
c.1930G>T (p.Gly644Cys)
c.1849G>T (p.Gly617Cys)
c.1792G>T (p.Gly598Cys)
n.2071G>T
 gnomAD v4
16g.2115473C=CA2202050382PKD1c.2002G= (p.Gly668=)
c.472+2016G=
c.933G= (n.933G=)
c.2056G= (p.Gly686=)
c.1984G= (p.Gly662=)
c.1930G= (p.Gly644=)
c.1849G= (p.Gly617=)
c.1792G= (p.Gly598=)
n.2071G=
16g.2115473C>GCA394389712PKD1c.2002G>C (p.Gly668Arg)
c.472+2016G>C
c.933G>C (n.933G>C)
c.2056G>C (p.Gly686Arg)
c.1984G>C (p.Gly662Arg)
c.1930G>C (p.Gly644Arg)
c.1849G>C (p.Gly617Arg)
c.1792G>C (p.Gly598Arg)
n.2071G>C
 dbSNP gnomAD v2 gnomAD v4
16g.2115473C>TCA394389713PKD1c.2002G>A (p.Gly668Ser)
c.472+2016G>A
c.933G>A (n.933G>A)
c.2056G>A (p.Gly686Ser)
c.1984G>A (p.Gly662Ser)
c.1930G>A (p.Gly644Ser)
c.1849G>A (p.Gly617Ser)
c.1792G>A (p.Gly598Ser)
n.2071G>A
16g.2115474A=CA2202050383PKD1c.2001T= (p.Asn667=)
c.472+2015T=
c.932T= (n.932T=)
c.2055T= (p.Asn685=)
c.1983T= (p.Asn661=)
c.1929T= (p.Asn643=)
c.1848T= (p.Asn616=)
c.1791T= (p.Asn597=)
n.2070T=
16g.2115474A>CCA394389715PKD1c.2001T>G (p.Asn667Lys)
c.472+2015T>G
c.932T>G (n.932T>G)
c.2055T>G (p.Asn685Lys)
c.1983T>G (p.Asn661Lys)
c.1929T>G (p.Asn643Lys)
c.1848T>G (p.Asn616Lys)
c.1791T>G (p.Asn597Lys)
n.2070T>G
16g.2115474A>GCA493049805PKD1c.2001T>C (p.Asn667=)
c.472+2015T>C
c.932T>C (n.932T>C)
c.2055T>C (p.Asn685=)
c.1983T>C (p.Asn661=)
c.1929T>C (p.Asn643=)
c.1848T>C (p.Asn616=)
c.1791T>C (p.Asn597=)
n.2070T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2115474A>TCA394389716PKD1c.2001T>A (p.Asn667Lys)
c.472+2015T>A
c.932T>A (n.932T>A)
c.2055T>A (p.Asn685Lys)
c.1983T>A (p.Asn661Lys)
c.1929T>A (p.Asn643Lys)
c.1848T>A (p.Asn616Lys)
c.1791T>A (p.Asn597Lys)
n.2070T>A
16g.2115474dupCA2695222585PKD1c.2001dup (p.Gly668TrpfsTer?)
c.472+2015dup
c.932dup (n.932dup)
c.2055dup (p.Gly686TrpfsTer?)
c.1983dup (p.Gly662TrpfsTer?)
c.1929dup (p.Gly644TrpfsTer?)
c.1848dup (p.Gly617TrpfsTer?)
c.1791dup (p.Gly598TrpfsTer?)
n.2070dup
16g.2115475T>ACA394389717PKD1c.2000A>T (p.Asn667Ile)
c.472+2014A>T
c.931A>T (n.931A>T)
c.2054A>T (p.Asn685Ile)
c.1982A>T (p.Asn661Ile)
c.1928A>T (p.Asn643Ile)
c.1847A>T (p.Asn616Ile)
c.1790A>T (p.Asn597Ile)
n.2069A>T
16g.2115475T>CCA394389718PKD1c.2000A>G (p.Asn667Ser)
c.472+2014A>G
c.931A>G (n.931A>G)
c.2054A>G (p.Asn685Ser)
c.1982A>G (p.Asn661Ser)
c.1928A>G (p.Asn643Ser)
c.1847A>G (p.Asn616Ser)
c.1790A>G (p.Asn597Ser)
n.2069A>G
 dbSNP gnomAD v2 gnomAD v4
16g.2115475T>GCA394389720PKD1c.2000A>C (p.Asn667Thr)
c.472+2014A>C
c.931A>C (n.931A>C)
c.2054A>C (p.Asn685Thr)
c.1982A>C (p.Asn661Thr)
c.1928A>C (p.Asn643Thr)
c.1847A>C (p.Asn616Thr)
c.1790A>C (p.Asn597Thr)
n.2069A>C
16g.2115475T=CA2202050384PKD1c.2000A= (p.Asn667=)
c.472+2014A=
c.931A= (n.931A=)
c.2054A= (p.Asn685=)
c.1982A= (p.Asn661=)
c.1928A= (p.Asn643=)
c.1847A= (p.Asn616=)
c.1790A= (p.Asn597=)
n.2069A=
16g.2115476T>ACA394389722PKD1c.1999A>T (p.Asn667Tyr)
c.472+2013A>T
c.930A>T (n.930A>T)
c.2053A>T (p.Asn685Tyr)
c.1981A>T (p.Asn661Tyr)
c.1927A>T (p.Asn643Tyr)
c.1846A>T (p.Asn616Tyr)
c.1789A>T (p.Asn597Tyr)
n.2068A>T
16g.2115476T>CCA394389725PKD1c.1999A>G (p.Asn667Asp)
c.472+2013A>G
c.930A>G (n.930A>G)
c.2053A>G (p.Asn685Asp)
c.1981A>G (p.Asn661Asp)
c.1927A>G (p.Asn643Asp)
c.1846A>G (p.Asn616Asp)
c.1789A>G (p.Asn597Asp)
n.2068A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2115476T>GCA394389724PKD1c.1999A>C (p.Asn667His)
c.472+2013A>C
c.930A>C (n.930A>C)
c.2053A>C (p.Asn685His)
c.1981A>C (p.Asn661His)
c.1927A>C (p.Asn643His)
c.1846A>C (p.Asn616His)
c.1789A>C (p.Asn597His)
n.2068A>C
 gnomAD v4
16g.2115476T=CA2202050385PKD1c.1999A= (p.Asn667=)
c.472+2013A=
c.930A= (n.930A=)
c.2053A= (p.Asn685=)
c.1981A= (p.Asn661=)
c.1927A= (p.Asn643=)
c.1846A= (p.Asn616=)
c.1789A= (p.Asn597=)
n.2068A=
16g.2115477G>ACA493049822PKD1c.1998C>T (p.Ala666=)
c.472+2012C>T
c.929C>T (n.929C>T)
c.2052C>T (p.Ala684=)
c.1980C>T (p.Ala660=)
c.1926C>T (p.Ala642=)
c.1845C>T (p.Ala615=)
c.1788C>T (p.Ala596=)
n.2067C>T
 dbSNP gnomAD v3 gnomAD v4
16g.2115477G>CCA493049823PKD1c.1998C>G (p.Ala666=)
c.472+2012C>G
c.929C>G (n.929C>G)
c.2052C>G (p.Ala684=)
c.1980C>G (p.Ala660=)
c.1926C>G (p.Ala642=)
c.1845C>G (p.Ala615=)
c.1788C>G (p.Ala596=)
n.2067C>G
16g.2115477G=CA2202050386PKD1c.1998C= (p.Ala666=)
c.472+2012C=
c.929C= (n.929C=)
c.2052C= (p.Ala684=)
c.1980C= (p.Ala660=)
c.1926C= (p.Ala642=)
c.1845C= (p.Ala615=)
c.1788C= (p.Ala596=)
n.2067C=
16g.2115477G>TCA493049824PKD1c.1998C>A (p.Ala666=)
c.472+2012C>A
c.929C>A (n.929C>A)
c.2052C>A (p.Ala684=)
c.1980C>A (p.Ala660=)
c.1926C>A (p.Ala642=)
c.1845C>A (p.Ala615=)
c.1788C>A (p.Ala596=)
n.2067C>A
16g.2115478G>ACA394389727PKD1c.1997C>T (p.Ala666Val)
c.472+2011C>T
c.928C>T (n.928C>T)
c.2051C>T (p.Ala684Val)
c.1979C>T (p.Ala660Val)
c.1925C>T (p.Ala642Val)
c.1844C>T (p.Ala615Val)
c.1787C>T (p.Ala596Val)
n.2066C>T
 dbSNP
16g.2115478G>CCA394389728PKD1c.1997C>G (p.Ala666Gly)
c.472+2011C>G
c.928C>G (n.928C>G)
c.2051C>G (p.Ala684Gly)
c.1979C>G (p.Ala660Gly)
c.1925C>G (p.Ala642Gly)
c.1844C>G (p.Ala615Gly)
c.1787C>G (p.Ala596Gly)
n.2066C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2115478G=CA2202050387PKD1c.1997C= (p.Ala666=)
c.472+2011C=
c.928C= (n.928C=)
c.2051C= (p.Ala684=)
c.1979C= (p.Ala660=)
c.1925C= (p.Ala642=)
c.1844C= (p.Ala615=)
c.1787C= (p.Ala596=)
n.2066C=
16g.2115478G>TCA394389729PKD1c.1997C>A (p.Ala666Asp)
c.472+2011C>A
c.928C>A (n.928C>A)
c.2051C>A (p.Ala684Asp)
c.1979C>A (p.Ala660Asp)
c.1925C>A (p.Ala642Asp)
c.1844C>A (p.Ala615Asp)
c.1787C>A (p.Ala596Asp)
n.2066C>A
16g.2115479C>ACA394389732PKD1c.1996G>T (p.Ala666Ser)
c.472+2010G>T
c.927G>T (n.927G>T)
c.2050G>T (p.Ala684Ser)
c.1978G>T (p.Ala660Ser)
c.1924G>T (p.Ala642Ser)
c.1843G>T (p.Ala615Ser)
c.1786G>T (p.Ala596Ser)
n.2065G>T
 gnomAD v4
16g.2115479C=CA2202050388PKD1c.1996G= (p.Ala666=)
c.472+2010G=
c.927G= (n.927G=)
c.2050G= (p.Ala684=)
c.1978G= (p.Ala660=)
c.1924G= (p.Ala642=)
c.1843G= (p.Ala615=)
c.1786G= (p.Ala596=)
n.2065G=
16g.2115479C>GCA394389733PKD1c.1996G>C (p.Ala666Pro)
c.472+2010G>C
c.927G>C (n.927G>C)
c.2050G>C (p.Ala684Pro)
c.1978G>C (p.Ala660Pro)
c.1924G>C (p.Ala642Pro)
c.1843G>C (p.Ala615Pro)
c.1786G>C (p.Ala596Pro)
n.2065G>C
16g.2115479C>TCA7833322PKD1c.1996G>A (p.Ala666Thr)
c.472+2010G>A
c.927G>A (n.927G>A)
c.2050G>A (p.Ala684Thr)
c.1978G>A (p.Ala660Thr)
c.1924G>A (p.Ala642Thr)
c.1843G>A (p.Ala615Thr)
c.1786G>A (p.Ala596Thr)
n.2065G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2115480G>ACA7833323PKD1c.1995C>T (p.Cys665=)
c.472+2009C>T
c.926C>T (n.926C>T)
c.2049C>T (p.Cys683=)
c.1977C>T (p.Cys659=)
c.1923C>T (p.Cys641=)
c.1842C>T (p.Cys614=)
c.1785C>T (p.Cys595=)
n.2064C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2115480G>CCA394389735PKD1c.1995C>G (p.Cys665Trp)
c.472+2009C>G
c.926C>G (n.926C>G)
c.2049C>G (p.Cys683Trp)
c.1977C>G (p.Cys659Trp)
c.1923C>G (p.Cys641Trp)
c.1842C>G (p.Cys614Trp)
c.1785C>G (p.Cys595Trp)
n.2064C>G
16g.2115480G=CA2202050389PKD1c.1995C= (p.Cys665=)
c.472+2009C=
c.926C= (n.926C=)
c.2049C= (p.Cys683=)
c.1977C= (p.Cys659=)
c.1923C= (p.Cys641=)
c.1842C= (p.Cys614=)
c.1785C= (p.Cys595=)
n.2064C=
16g.2115480G>TCA394389736PKD1c.1995C>A (p.Cys665Ter)
c.472+2009C>A
c.926C>A (n.926C>A)
c.2049C>A (p.Cys683Ter)
c.1977C>A (p.Cys659Ter)
c.1923C>A (p.Cys641Ter)
c.1842C>A (p.Cys614Ter)
c.1785C>A (p.Cys595Ter)
n.2064C>A
 gnomAD v4
16g.2115481C>ACA394389740PKD1c.1994G>T (p.Cys665Phe)
c.472+2008G>T
c.925G>T (n.925G>T)
c.2048G>T (p.Cys683Phe)
c.1976G>T (p.Cys659Phe)
c.1922G>T (p.Cys641Phe)
c.1841G>T (p.Cys614Phe)
c.1784G>T (p.Cys595Phe)
n.2063G>T
 gnomAD v4
16g.2115481C>GCA394389743PKD1c.1994G>C (p.Cys665Ser)
c.472+2008G>C
c.925G>C (n.925G>C)
c.2048G>C (p.Cys683Ser)
c.1976G>C (p.Cys659Ser)
c.1922G>C (p.Cys641Ser)
c.1841G>C (p.Cys614Ser)
c.1784G>C (p.Cys595Ser)
n.2063G>C
16g.2115481C>TCA394389739PKD1c.1994G>A (p.Cys665Tyr)
c.472+2008G>A
c.925G>A (n.925G>A)
c.2048G>A (p.Cys683Tyr)
c.1976G>A (p.Cys659Tyr)
c.1922G>A (p.Cys641Tyr)
c.1841G>A (p.Cys614Tyr)
c.1784G>A (p.Cys595Tyr)
n.2063G>A
16g.2115482A>CCA394389745PKD1c.1993T>G (p.Cys665Gly)
c.472+2007T>G
c.924T>G (n.924T>G)
c.2047T>G (p.Cys683Gly)
c.1975T>G (p.Cys659Gly)
c.1921T>G (p.Cys641Gly)
c.1840T>G (p.Cys614Gly)
c.1783T>G (p.Cys595Gly)
n.2062T>G
16g.2115482A>GCA394389746PKD1c.1993T>C (p.Cys665Arg)
c.472+2007T>C
c.924T>C (n.924T>C)
c.2047T>C (p.Cys683Arg)
c.1975T>C (p.Cys659Arg)
c.1921T>C (p.Cys641Arg)
c.1840T>C (p.Cys614Arg)
c.1783T>C (p.Cys595Arg)
n.2062T>C
16g.2115482A>TCA394389748PKD1c.1993T>A (p.Cys665Ser)
c.472+2007T>A
c.924T>A (n.924T>A)
c.2047T>A (p.Cys683Ser)
c.1975T>A (p.Cys659Ser)
c.1921T>A (p.Cys641Ser)
c.1840T>A (p.Cys614Ser)
c.1783T>A (p.Cys595Ser)
n.2062T>A
16g.2115483G>ACA493049838PKD1c.1992C>T (p.Ala664=)
c.472+2006C>T
c.923C>T (n.923C>T)
c.2046C>T (p.Ala682=)
c.1974C>T (p.Ala658=)
c.1920C>T (p.Ala640=)
c.1839C>T (p.Ala613=)
c.1782C>T (p.Ala594=)
n.2061C>T
16g.2115483G>CCA493049839PKD1c.1992C>G (p.Ala664=)
c.472+2006C>G
c.923C>G (n.923C>G)
c.2046C>G (p.Ala682=)
c.1974C>G (p.Ala658=)
c.1920C>G (p.Ala640=)
c.1839C>G (p.Ala613=)
c.1782C>G (p.Ala594=)
n.2061C>G
16g.2115483G>TCA493049841PKD1c.1992C>A (p.Ala664=)
c.472+2006C>A
c.923C>A (n.923C>A)
c.2046C>A (p.Ala682=)
c.1974C>A (p.Ala658=)
c.1920C>A (p.Ala640=)
c.1839C>A (p.Ala613=)
c.1782C>A (p.Ala594=)
n.2061C>A
 gnomAD v4
16g.2115484G>ACA394389749PKD1c.1991C>T (p.Ala664Val)
c.472+2005C>T
c.922C>T (n.922C>T)
c.2045C>T (p.Ala682Val)
c.1973C>T (p.Ala658Val)
c.1919C>T (p.Ala640Val)
c.1838C>T (p.Ala613Val)
c.1781C>T (p.Ala594Val)
n.2060C>T
 ClinVar
16g.2115484G>CCA7833324PKD1c.1991C>G (p.Ala664Gly)
c.472+2005C>G
c.922C>G (n.922C>G)
c.2045C>G (p.Ala682Gly)
c.1973C>G (p.Ala658Gly)
c.1919C>G (p.Ala640Gly)
c.1838C>G (p.Ala613Gly)
c.1781C>G (p.Ala594Gly)
n.2060C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2115484G=CA2202050390PKD1c.1991C= (p.Ala664=)
c.472+2005C=
c.922C= (n.922C=)
c.2045C= (p.Ala682=)
c.1973C= (p.Ala658=)
c.1919C= (p.Ala640=)
c.1838C= (p.Ala613=)
c.1781C= (p.Ala594=)
n.2060C=
16g.2115484G>TCA394389751PKD1c.1991C>A (p.Ala664Asp)
c.472+2005C>A
c.922C>A (n.922C>A)
c.2045C>A (p.Ala682Asp)
c.1973C>A (p.Ala658Asp)
c.1919C>A (p.Ala640Asp)
c.1838C>A (p.Ala613Asp)
c.1781C>A (p.Ala594Asp)
n.2060C>A
 gnomAD v4
16g.2115485C>ACA394389752PKD1c.1990G>T (p.Ala664Ser)
c.472+2004G>T
c.921G>T (n.921G>T)
c.2044G>T (p.Ala682Ser)
c.1972G>T (p.Ala658Ser)
c.1918G>T (p.Ala640Ser)
c.1837G>T (p.Ala613Ser)
c.1780G>T (p.Ala594Ser)
n.2059G>T
 gnomAD v4
16g.2115485C=CA2202050391PKD1c.1990G= (p.Ala664=)
c.472+2004G=
c.921G= (n.921G=)
c.2044G= (p.Ala682=)
c.1972G= (p.Ala658=)
c.1918G= (p.Ala640=)
c.1837G= (p.Ala613=)
c.1780G= (p.Ala594=)
n.2059G=
16g.2115485C>GCA394389754PKD1c.1990G>C (p.Ala664Pro)
c.472+2004G>C
c.921G>C (n.921G>C)
c.2044G>C (p.Ala682Pro)
c.1972G>C (p.Ala658Pro)
c.1918G>C (p.Ala640Pro)
c.1837G>C (p.Ala613Pro)
c.1780G>C (p.Ala594Pro)
n.2059G>C
16g.2115485C>TCA394389755PKD1c.1990G>A (p.Ala664Thr)
c.472+2004G>A
c.921G>A (n.921G>A)
c.2044G>A (p.Ala682Thr)
c.1972G>A (p.Ala658Thr)
c.1918G>A (p.Ala640Thr)
c.1837G>A (p.Ala613Thr)
c.1780G>A (p.Ala594Thr)
n.2059G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2115486delCA2631142441PKD1c.1990del (p.Ala664ProfsTer?)
c.472+2004del
c.921del (n.921del)
c.2044del (p.Ala682ProfsTer?)
c.1972del (p.Ala658ProfsTer?)
c.1918del (p.Ala640ProfsTer?)
c.1837del (p.Ala613ProfsTer?)
c.1780del (p.Ala594ProfsTer?)
n.2059del
 gnomAD v4
16g.2115486C>ACA394389757PKD1c.1989G>T (p.Gln663His)
c.472+2003G>T
c.920G>T (n.920G>T)
c.2043G>T (p.Gln681His)
c.1971G>T (p.Gln657His)
c.1917G>T (p.Gln639His)
c.1836G>T (p.Gln612His)
c.1779G>T (p.Gln593His)
n.2058G>T
16g.2115486C>GCA394389759PKD1c.1989G>C (p.Gln663His)
c.472+2003G>C
c.920G>C (n.920G>C)
c.2043G>C (p.Gln681His)
c.1971G>C (p.Gln657His)
c.1917G>C (p.Gln639His)
c.1836G>C (p.Gln612His)
c.1779G>C (p.Gln593His)
n.2058G>C
16g.2115486C>TCA493049848PKD1c.1989G>A (p.Gln663=)
c.472+2003G>A
c.920G>A (n.920G>A)
c.2043G>A (p.Gln681=)
c.1971G>A (p.Gln657=)
c.1917G>A (p.Gln639=)
c.1836G>A (p.Gln612=)
c.1779G>A (p.Gln593=)
n.2058G>A
16g.2115487T>ACA394389762PKD1c.1988A>T (p.Gln663Leu)
c.472+2002A>T
c.919A>T (n.919A>T)
c.2042A>T (p.Gln681Leu)
c.1970A>T (p.Gln657Leu)
c.1916A>T (p.Gln639Leu)
c.1835A>T (p.Gln612Leu)
c.1778A>T (p.Gln593Leu)
n.2057A>T
16g.2115487T>CCA394389763PKD1c.1988A>G (p.Gln663Arg)
c.472+2002A>G
c.919A>G (n.919A>G)
c.2042A>G (p.Gln681Arg)
c.1970A>G (p.Gln657Arg)
c.1916A>G (p.Gln639Arg)
c.1835A>G (p.Gln612Arg)
c.1778A>G (p.Gln593Arg)
n.2057A>G
 gnomAD v4
16g.2115487T>GCA394389761PKD1c.1988A>C (p.Gln663Pro)
c.472+2002A>C
c.919A>C (n.919A>C)
c.2042A>C (p.Gln681Pro)
c.1970A>C (p.Gln657Pro)
c.1916A>C (p.Gln639Pro)
c.1835A>C (p.Gln612Pro)
c.1778A>C (p.Gln593Pro)
n.2057A>C
 gnomAD v4
16g.2115487_2115488delinsTGCA2202050392PKD1c.1987_1988delinsCA (p.Gln663=)
c.472+2001_472+2002delinsCA
c.918_919delinsCA (n.918_919delinsCA)
c.2041_2042delinsCA (p.Gln681=)
c.1969_1970delinsCA (p.Gln657=)
c.1915_1916delinsCA (p.Gln639=)
c.1834_1835delinsCA (p.Gln612=)
c.1777_1778delinsCA (p.Gln593=)
n.2056_2057delinsCA
16g.2115488G>ACA394389765PKD1c.1987C>T (p.Gln663Ter)
c.472+2001C>T
c.918C>T (n.918C>T)
c.2041C>T (p.Gln681Ter)
c.1969C>T (p.Gln657Ter)
c.1915C>T (p.Gln639Ter)
c.1834C>T (p.Gln612Ter)
c.1777C>T (p.Gln593Ter)
n.2056C>T
 ClinVar gnomAD v4
16g.2115488G>CCA394389766PKD1c.1987C>G (p.Gln663Glu)
c.472+2001C>G
c.918C>G (n.918C>G)
c.2041C>G (p.Gln681Glu)
c.1969C>G (p.Gln657Glu)
c.1915C>G (p.Gln639Glu)
c.1834C>G (p.Gln612Glu)
c.1777C>G (p.Gln593Glu)
n.2056C>G
16g.2115488G>TCA394389768PKD1c.1987C>A (p.Gln663Lys)
c.472+2001C>A
c.918C>A (n.918C>A)
c.2041C>A (p.Gln681Lys)
c.1969C>A (p.Gln657Lys)
c.1915C>A (p.Gln639Lys)
c.1834C>A (p.Gln612Lys)
c.1777C>A (p.Gln593Lys)
n.2056C>A
16g.2115492dupCA2840281204PKD1c.1987dup (p.Gln663ProfsTer?)
c.472+2001dup
c.918dup (n.918dup)
c.2041dup (p.Gln681ProfsTer?)
c.1969dup (p.Gln657ProfsTer?)
c.1915dup (p.Gln639ProfsTer?)
c.1834dup (p.Gln612ProfsTer?)
c.1777dup (p.Gln593ProfsTer?)
n.2056dup
16g.2115491_2115492dupCA2575879157PKD1c.1986_1987dup (p.Gln663ProfsTer?)
c.472+2000_472+2001dup
c.917_918dup (n.917_918dup)
c.2040_2041dup (p.Gln681ProfsTer?)
c.1968_1969dup (p.Gln657ProfsTer?)
c.1914_1915dup (p.Gln639ProfsTer?)
c.1833_1834dup (p.Gln612ProfsTer?)
c.1776_1777dup (p.Gln593ProfsTer?)
n.2055_2056dup
16g.2115492delCA620705839PKD1c.1987del (p.Gln663ArgfsTer?)
c.472+2001del
c.918del (n.918del)
c.2041del (p.Gln681ArgfsTer?)
c.1969del (p.Gln657ArgfsTer?)
c.1915del (p.Gln639ArgfsTer?)
c.1834del (p.Gln612ArgfsTer?)
c.1777del (p.Gln593ArgfsTer?)
n.2056del
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2115489G>ACA493049855PKD1c.1986C>T (p.Pro662=)
c.472+2000C>T
c.917C>T (n.917C>T)
c.2040C>T (p.Pro680=)
c.1968C>T (p.Pro656=)
c.1914C>T (p.Pro638=)
c.1833C>T (p.Pro611=)
c.1776C>T (p.Pro592=)
n.2055C>T
 gnomAD v4
16g.2115489G>CCA493049857PKD1c.1986C>G (p.Pro662=)
c.472+2000C>G
c.917C>G (n.917C>G)
c.2040C>G (p.Pro680=)
c.1968C>G (p.Pro656=)
c.1914C>G (p.Pro638=)
c.1833C>G (p.Pro611=)
c.1776C>G (p.Pro592=)
n.2055C>G
16g.2115489G>TCA493049858PKD1c.1986C>A (p.Pro662=)
c.472+2000C>A
c.917C>A (n.917C>A)
c.2040C>A (p.Pro680=)
c.1968C>A (p.Pro656=)
c.1914C>A (p.Pro638=)
c.1833C>A (p.Pro611=)
c.1776C>A (p.Pro592=)
n.2055C>A
 gnomAD v4
16g.2115490G>ACA394389770PKD1c.1985C>T (p.Pro662Leu)
c.472+1999C>T
c.916C>T (n.916C>T)
c.2039C>T (p.Pro680Leu)
c.1967C>T (p.Pro656Leu)
c.1913C>T (p.Pro638Leu)
c.1832C>T (p.Pro611Leu)
c.1775C>T (p.Pro592Leu)
n.2054C>T
 dbSNP
16g.2115490G>CCA394389771PKD1c.1985C>G (p.Pro662Arg)
c.472+1999C>G
c.916C>G (n.916C>G)
c.2039C>G (p.Pro680Arg)
c.1967C>G (p.Pro656Arg)
c.1913C>G (p.Pro638Arg)
c.1832C>G (p.Pro611Arg)
c.1775C>G (p.Pro592Arg)
n.2054C>G
 gnomAD v4
16g.2115490G=CA2202050393PKD1c.1985C= (p.Pro662=)
c.472+1999C=
c.916C= (n.916C=)
c.2039C= (p.Pro680=)
c.1967C= (p.Pro656=)
c.1913C= (p.Pro638=)
c.1832C= (p.Pro611=)
c.1775C= (p.Pro592=)
n.2054C=
16g.2115490G>TCA394389772PKD1c.1985C>A (p.Pro662His)
c.472+1999C>A
c.916C>A (n.916C>A)
c.2039C>A (p.Pro680His)
c.1967C>A (p.Pro656His)
c.1913C>A (p.Pro638His)
c.1832C>A (p.Pro611His)
c.1775C>A (p.Pro592His)
n.2054C>A
 gnomAD v4
16g.2115491G>ACA394389773PKD1c.1984C>T (p.Pro662Ser)
c.472+1998C>T
c.915C>T (n.915C>T)
c.2038C>T (p.Pro680Ser)
c.1966C>T (p.Pro656Ser)
c.1912C>T (p.Pro638Ser)
c.1831C>T (p.Pro611Ser)
c.1774C>T (p.Pro592Ser)
n.2053C>T
 dbSNP gnomAD v2 gnomAD v4
16g.2115491G>CCA394389776PKD1c.1984C>G (p.Pro662Ala)
c.472+1998C>G
c.915C>G (n.915C>G)
c.2038C>G (p.Pro680Ala)
c.1966C>G (p.Pro656Ala)
c.1912C>G (p.Pro638Ala)
c.1831C>G (p.Pro611Ala)
c.1774C>G (p.Pro592Ala)
n.2053C>G
 gnomAD v4
16g.2115491G=CA2202050394PKD1c.1984C= (p.Pro662=)
c.472+1998C=
c.915C= (n.915C=)
c.2038C= (p.Pro680=)
c.1966C= (p.Pro656=)
c.1912C= (p.Pro638=)
c.1831C= (p.Pro611=)
c.1774C= (p.Pro592=)
n.2053C=
16g.2115491G>TCA394389775PKD1c.1984C>A (p.Pro662Thr)
c.472+1998C>A
c.915C>A (n.915C>A)
c.2038C>A (p.Pro680Thr)
c.1966C>A (p.Pro656Thr)
c.1912C>A (p.Pro638Thr)
c.1831C>A (p.Pro611Thr)
c.1774C>A (p.Pro592Thr)
n.2053C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2115492G>ACA493049871PKD1c.1983C>T (p.His661=)
c.472+1997C>T
c.914C>T (n.914C>T)
c.2037C>T (p.His679=)
c.1965C>T (p.His655=)
c.1911C>T (p.His637=)
c.1830C>T (p.His610=)
c.1773C>T (p.His591=)
n.2052C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2115492G>CCA394389777PKD1c.1983C>G (p.His661Gln)
c.472+1997C>G
c.914C>G (n.914C>G)
c.2037C>G (p.His679Gln)
c.1965C>G (p.His655Gln)
c.1911C>G (p.His637Gln)
c.1830C>G (p.His610Gln)
c.1773C>G (p.His591Gln)
n.2052C>G
16g.2115492G=CA2202050395PKD1c.1983C= (p.His661=)
c.472+1997C=
c.914C= (n.914C=)
c.2037C= (p.His679=)
c.1965C= (p.His655=)
c.1911C= (p.His637=)
c.1830C= (p.His610=)
c.1773C= (p.His591=)
n.2052C=
16g.2115492G>TCA394389779PKD1c.1983C>A (p.His661Gln)
c.472+1997C>A
c.914C>A (n.914C>A)
c.2037C>A (p.His679Gln)
c.1965C>A (p.His655Gln)
c.1911C>A (p.His637Gln)
c.1830C>A (p.His610Gln)
c.1773C>A (p.His591Gln)
n.2052C>A
16g.2115493T>ACA7833325PKD1c.1982A>T (p.His661Leu)
c.472+1996A>T
c.913A>T (n.913A>T)
c.2036A>T (p.His679Leu)
c.1964A>T (p.His655Leu)
c.1910A>T (p.His637Leu)
c.1829A>T (p.His610Leu)
c.1772A>T (p.His591Leu)
n.2051A>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2115493T>CCA7833326PKD1c.1982A>G (p.His661Arg)
c.472+1996A>G
c.913A>G (n.913A>G)
c.2036A>G (p.His679Arg)
c.1964A>G (p.His655Arg)
c.1910A>G (p.His637Arg)
c.1829A>G (p.His610Arg)
c.1772A>G (p.His591Arg)
n.2051A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2115493T>GCA394389781PKD1c.1982A>C (p.His661Pro)
c.472+1996A>C
c.913A>C (n.913A>C)
c.2036A>C (p.His679Pro)
c.1964A>C (p.His655Pro)
c.1910A>C (p.His637Pro)
c.1829A>C (p.His610Pro)
c.1772A>C (p.His591Pro)
n.2051A>C
16g.2115493T=CA2202050396PKD1c.1982A= (p.His661=)
c.472+1996A=
c.913A= (n.913A=)
c.2036A= (p.His679=)
c.1964A= (p.His655=)
c.1910A= (p.His637=)
c.1829A= (p.His610=)
c.1772A= (p.His591=)
n.2051A=
16g.2115494G>ACA394389784PKD1c.1981C>T (p.His661Tyr)
c.472+1995C>T
c.912C>T (n.912C>T)
c.2035C>T (p.His679Tyr)
c.1963C>T (p.His655Tyr)
c.1909C>T (p.His637Tyr)
c.1828C>T (p.His610Tyr)
c.1771C>T (p.His591Tyr)
n.2050C>T
16g.2115494G>CCA394389786PKD1c.1981C>G (p.His661Asp)
c.472+1995C>G
c.912C>G (n.912C>G)
c.2035C>G (p.His679Asp)
c.1963C>G (p.His655Asp)
c.1909C>G (p.His637Asp)
c.1828C>G (p.His610Asp)
c.1771C>G (p.His591Asp)
n.2050C>G
16g.2115494G>TCA394389783PKD1c.1981C>A (p.His661Asn)
c.472+1995C>A
c.912C>A (n.912C>A)
c.2035C>A (p.His679Asn)
c.1963C>A (p.His655Asn)
c.1909C>A (p.His637Asn)
c.1828C>A (p.His610Asn)
c.1771C>A (p.His591Asn)
n.2050C>A
 dbSNP gnomAD v4
16g.2115495G>ACA7833327PKD1c.1980C>T (p.Cys660=)
c.472+1994C>T
c.911C>T (n.911C>T)
c.2034C>T (p.Cys678=)
c.1962C>T (p.Cys654=)
c.1908C>T (p.Cys636=)
c.1827C>T (p.Cys609=)
c.1770C>T (p.Cys590=)
n.2049C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2115495G>CCA394389787PKD1c.1980C>G (p.Cys660Trp)
c.472+1994C>G
c.911C>G (n.911C>G)
c.2034C>G (p.Cys678Trp)
c.1962C>G (p.Cys654Trp)
c.1908C>G (p.Cys636Trp)
c.1827C>G (p.Cys609Trp)
c.1770C>G (p.Cys590Trp)
n.2049C>G
16g.2115495G=CA2202050397PKD1c.1980C= (p.Cys660=)
c.472+1994C=
c.911C= (n.911C=)
c.2034C= (p.Cys678=)
c.1962C= (p.Cys654=)
c.1908C= (p.Cys636=)
c.1827C= (p.Cys609=)
c.1770C= (p.Cys590=)
n.2049C=
16g.2115495G>TCA394389789PKD1c.1980C>A (p.Cys660Ter)
c.472+1994C>A
c.911C>A (n.911C>A)
c.2034C>A (p.Cys678Ter)
c.1962C>A (p.Cys654Ter)
c.1908C>A (p.Cys636Ter)
c.1827C>A (p.Cys609Ter)
c.1770C>A (p.Cys590Ter)
n.2049C>A
 gnomAD v4
16g.2115496C>ACA394389790PKD1c.1979G>T (p.Cys660Phe)
c.472+1993G>T
c.910G>T (n.910G>T)
c.2033G>T (p.Cys678Phe)
c.1961G>T (p.Cys654Phe)
c.1907G>T (p.Cys636Phe)
c.1826G>T (p.Cys609Phe)
c.1769G>T (p.Cys590Phe)
n.2048G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2115496C=CA2202050399PKD1c.1979G= (p.Cys660=)
c.472+1993G=
c.910G= (n.910G=)
c.2033G= (p.Cys678=)
c.1961G= (p.Cys654=)
c.1907G= (p.Cys636=)
c.1826G= (p.Cys609=)
c.1769G= (p.Cys590=)
n.2048G=
16g.2115496C>GCA394389792PKD1c.1979G>C (p.Cys660Ser)
c.472+1993G>C
c.910G>C (n.910G>C)
c.2033G>C (p.Cys678Ser)
c.1961G>C (p.Cys654Ser)
c.1907G>C (p.Cys636Ser)
c.1826G>C (p.Cys609Ser)
c.1769G>C (p.Cys590Ser)
n.2048G>C
16g.2115496C>TCA7833328PKD1c.1979G>A (p.Cys660Tyr)
c.472+1993G>A
c.910G>A (n.910G>A)
c.2033G>A (p.Cys678Tyr)
c.1961G>A (p.Cys654Tyr)
c.1907G>A (p.Cys636Tyr)
c.1826G>A (p.Cys609Tyr)
c.1769G>A (p.Cys590Tyr)
n.2048G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2115496_2115499delinsCAGGCA2202050398PKD1c.1976_1979delinsCCTG (p.Ser659=)
c.472+1990_472+1993delinsCCTG
c.907_910delinsCCTG (n.907_910delinsCCTG)
c.2030_2033delinsCCTG (p.Ser677=)
c.1958_1961delinsCCTG (p.Ser653=)
c.1904_1907delinsCCTG (p.Ser635=)
c.1823_1826delinsCCTG (p.Ser608=)
c.1766_1769delinsCCTG (p.Ser589=)
n.2045_2048delinsCCTG
16g.2115497A=CA2202050400PKD1c.1978T= (p.Cys660=)
c.472+1992T=
c.909T= (n.909T=)
c.2032T= (p.Cys678=)
c.1960T= (p.Cys654=)
c.1906T= (p.Cys636=)
c.1825T= (p.Cys609=)
c.1768T= (p.Cys590=)
n.2047T=
16g.2115497A>CCA394389797PKD1c.1978T>G (p.Cys660Gly)
c.472+1992T>G
c.909T>G (n.909T>G)
c.2032T>G (p.Cys678Gly)
c.1960T>G (p.Cys654Gly)
c.1906T>G (p.Cys636Gly)
c.1825T>G (p.Cys609Gly)
c.1768T>G (p.Cys590Gly)
n.2047T>G
16g.2115497A>GCA394389794PKD1c.1978T>C (p.Cys660Arg)
c.472+1992T>C
c.909T>C (n.909T>C)
c.2032T>C (p.Cys678Arg)
c.1960T>C (p.Cys654Arg)
c.1906T>C (p.Cys636Arg)
c.1825T>C (p.Cys609Arg)
c.1768T>C (p.Cys590Arg)
n.2047T>C
 dbSNP gnomAD v2 gnomAD v4
16g.2115497A>TCA394389795PKD1c.1978T>A (p.Cys660Ser)
c.472+1992T>A
c.909T>A (n.909T>A)
c.2032T>A (p.Cys678Ser)
c.1960T>A (p.Cys654Ser)
c.1906T>A (p.Cys636Ser)
c.1825T>A (p.Cys609Ser)
c.1768T>A (p.Cys590Ser)
n.2047T>A
16g.2115500_2115502delCA718967585PKD1c.1976_1978del (p.Ser659del)
c.472+1990_472+1992del
c.907_909del (n.907_909del)
c.2030_2032del (p.Ser677del)
c.1958_1960del (p.Ser653del)
c.1904_1906del (p.Ser635del)
c.1823_1825del (p.Ser608del)
c.1766_1768del (p.Ser589del)
n.2045_2047del
 dbSNP gnomAD v3 gnomAD v4
16g.2115498G>ACA276783015PKD1c.1977C>T (p.Ser659=)
c.472+1991C>T
c.908C>T (n.908C>T)
c.2031C>T (p.Ser677=)
c.1959C>T (p.Ser653=)
c.1905C>T (p.Ser635=)
c.1824C>T (p.Ser608=)
c.1767C>T (p.Ser589=)
n.2046C>T
 dbSNP
16g.2115498G>CCA493049897PKD1c.1977C>G (p.Ser659=)
c.472+1991C>G
c.908C>G (n.908C>G)
c.2031C>G (p.Ser677=)
c.1959C>G (p.Ser653=)
c.1905C>G (p.Ser635=)
c.1824C>G (p.Ser608=)
c.1767C>G (p.Ser589=)
n.2046C>G
16g.2115498G=CA2202050401PKD1c.1977C= (p.Ser659=)
c.472+1991C=
c.908C= (n.908C=)
c.2031C= (p.Ser677=)
c.1959C= (p.Ser653=)
c.1905C= (p.Ser635=)
c.1824C= (p.Ser608=)
c.1767C= (p.Ser589=)
n.2046C=
16g.2115498G>TCA7833329PKD1c.1977C>A (p.Ser659=)
c.472+1991C>A
c.908C>A (n.908C>A)
c.2031C>A (p.Ser677=)
c.1959C>A (p.Ser653=)
c.1905C>A (p.Ser635=)
c.1824C>A (p.Ser608=)
c.1767C>A (p.Ser589=)
n.2046C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2115499G>ACA394389800PKD1c.1976C>T (p.Ser659Phe)
c.472+1990C>T
c.907C>T (n.907C>T)
c.2030C>T (p.Ser677Phe)
c.1958C>T (p.Ser653Phe)
c.1904C>T (p.Ser635Phe)
c.1823C>T (p.Ser608Phe)
c.1766C>T (p.Ser589Phe)
n.2045C>T
 dbSNP
16g.2115499G>CCA7833330PKD1c.1976C>G (p.Ser659Cys)
c.472+1990C>G
c.907C>G (n.907C>G)
c.2030C>G (p.Ser677Cys)
c.1958C>G (p.Ser653Cys)
c.1904C>G (p.Ser635Cys)
c.1823C>G (p.Ser608Cys)
c.1766C>G (p.Ser589Cys)
n.2045C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2115499G=CA2202050402PKD1c.1976C= (p.Ser659=)
c.472+1990C=
c.907C= (n.907C=)
c.2030C= (p.Ser677=)
c.1958C= (p.Ser653=)
c.1904C= (p.Ser635=)
c.1823C= (p.Ser608=)
c.1766C= (p.Ser589=)
n.2045C=
16g.2115499G>TCA394389802PKD1c.1976C>A (p.Ser659Tyr)
c.472+1990C>A
c.907C>A (n.907C>A)
c.2030C>A (p.Ser677Tyr)
c.1958C>A (p.Ser653Tyr)
c.1904C>A (p.Ser635Tyr)
c.1823C>A (p.Ser608Tyr)
c.1766C>A (p.Ser589Tyr)
n.2045C>A
16g.2115500A>CCA394389806PKD1c.1975T>G (p.Ser659Ala)
c.472+1989T>G
c.906T>G (n.906T>G)
c.2029T>G (p.Ser677Ala)
c.1957T>G (p.Ser653Ala)
c.1903T>G (p.Ser635Ala)
c.1822T>G (p.Ser608Ala)
c.1765T>G (p.Ser589Ala)
n.2044T>G
 gnomAD v4
16g.2115500A>GCA394389803PKD1c.1975T>C (p.Ser659Pro)
c.472+1989T>C
c.906T>C (n.906T>C)
c.2029T>C (p.Ser677Pro)
c.1957T>C (p.Ser653Pro)
c.1903T>C (p.Ser635Pro)
c.1822T>C (p.Ser608Pro)
c.1765T>C (p.Ser589Pro)
n.2044T>C
16g.2115500A>TCA394389805PKD1c.1975T>A (p.Ser659Thr)
c.472+1989T>A
c.906T>A (n.906T>A)
c.2029T>A (p.Ser677Thr)
c.1957T>A (p.Ser653Thr)
c.1903T>A (p.Ser635Thr)
c.1822T>A (p.Ser608Thr)
c.1765T>A (p.Ser589Thr)
n.2044T>A
16g.2115501G>ACA7833331PKD1c.1974C>T (p.Ala658=)
c.472+1988C>T
c.905C>T (n.905C>T)
c.2028C>T (p.Ala676=)
c.1956C>T (p.Ala652=)
c.1902C>T (p.Ala634=)
c.1821C>T (p.Ala607=)
c.1764C>T (p.Ala588=)
n.2043C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2115501G>CCA493049907PKD1c.1974C>G (p.Ala658=)
c.472+1988C>G
c.905C>G (n.905C>G)
c.2028C>G (p.Ala676=)
c.1956C>G (p.Ala652=)
c.1902C>G (p.Ala634=)
c.1821C>G (p.Ala607=)
c.1764C>G (p.Ala588=)
n.2043C>G
16g.2115501G=CA2202050403PKD1c.1974C= (p.Ala658=)
c.472+1988C=
c.905C= (n.905C=)
c.2028C= (p.Ala676=)
c.1956C= (p.Ala652=)
c.1902C= (p.Ala634=)
c.1821C= (p.Ala607=)
c.1764C= (p.Ala588=)
n.2043C=
16g.2115501G>TCA493049908PKD1c.1974C>A (p.Ala658=)
c.472+1988C>A
c.905C>A (n.905C>A)
c.2028C>A (p.Ala676=)
c.1956C>A (p.Ala652=)
c.1902C>A (p.Ala634=)
c.1821C>A (p.Ala607=)
c.1764C>A (p.Ala588=)
n.2043C>A
16g.2115502G>ACA394389808PKD1c.1973C>T (p.Ala658Val)
c.472+1987C>T
c.904C>T (n.904C>T)
c.2027C>T (p.Ala676Val)
c.1955C>T (p.Ala652Val)
c.1901C>T (p.Ala634Val)
c.1820C>T (p.Ala607Val)
c.1763C>T (p.Ala588Val)
n.2042C>T
 gnomAD v4
16g.2115502G>CCA394389809PKD1c.1973C>G (p.Ala658Gly)
c.472+1987C>G
c.904C>G (n.904C>G)
c.2027C>G (p.Ala676Gly)
c.1955C>G (p.Ala652Gly)
c.1901C>G (p.Ala634Gly)
c.1820C>G (p.Ala607Gly)
c.1763C>G (p.Ala588Gly)
n.2042C>G
16g.2115502G>TCA394389810PKD1c.1973C>A (p.Ala658Asp)
c.472+1987C>A
c.904C>A (n.904C>A)
c.2027C>A (p.Ala676Asp)
c.1955C>A (p.Ala652Asp)
c.1901C>A (p.Ala634Asp)
c.1820C>A (p.Ala607Asp)
c.1763C>A (p.Ala588Asp)
n.2042C>A
16g.2115503C>ACA394389811PKD1c.1972G>T (p.Ala658Ser)
c.472+1986G>T
c.903G>T (n.903G>T)
c.2026G>T (p.Ala676Ser)
c.1954G>T (p.Ala652Ser)
c.1900G>T (p.Ala634Ser)
c.1819G>T (p.Ala607Ser)
c.1762G>T (p.Ala588Ser)
n.2041G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.2115503C=CA2202050404PKD1c.1972G= (p.Ala658=)
c.472+1986G=
c.903G= (n.903G=)
c.2026G= (p.Ala676=)
c.1954G= (p.Ala652=)
c.1900G= (p.Ala634=)
c.1819G= (p.Ala607=)
c.1762G= (p.Ala588=)
n.2041G=
16g.2115503C>GCA394389812PKD1c.1972G>C (p.Ala658Pro)
c.472+1986G>C
c.903G>C (n.903G>C)
c.2026G>C (p.Ala676Pro)
c.1954G>C (p.Ala652Pro)
c.1900G>C (p.Ala634Pro)
c.1819G>C (p.Ala607Pro)
c.1762G>C (p.Ala588Pro)
n.2041G>C
16g.2115503C>TCA7833332PKD1c.1972G>A (p.Ala658Thr)
c.472+1986G>A
c.903G>A (n.903G>A)
c.2026G>A (p.Ala676Thr)
c.1954G>A (p.Ala652Thr)
c.1900G>A (p.Ala634Thr)
c.1819G>A (p.Ala607Thr)
c.1762G>A (p.Ala588Thr)
n.2041G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2115504G>ACA7833333PKD1c.1971C>T (p.Asp657=)
c.472+1985C>T
c.902C>T (n.902C>T)
c.2025C>T (p.Asp675=)
c.1953C>T (p.Asp651=)
c.1899C>T (p.Asp633=)
c.1818C>T (p.Asp606=)
c.1761C>T (p.Asp587=)
n.2040C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2115504G>CCA394389813PKD1c.1971C>G (p.Asp657Glu)
c.472+1985C>G
c.902C>G (n.902C>G)
c.2025C>G (p.Asp675Glu)
c.1953C>G (p.Asp651Glu)
c.1899C>G (p.Asp633Glu)
c.1818C>G (p.Asp606Glu)
c.1761C>G (p.Asp587Glu)
n.2040C>G
16g.2115504G=CA2202050405PKD1c.1971C= (p.Asp657=)
c.472+1985C=
c.902C= (n.902C=)
c.2025C= (p.Asp675=)
c.1953C= (p.Asp651=)
c.1899C= (p.Asp633=)
c.1818C= (p.Asp606=)
c.1761C= (p.Asp587=)
n.2040C=
16g.2115504G>TCA394389815PKD1c.1971C>A (p.Asp657Glu)
c.472+1985C>A
c.902C>A (n.902C>A)
c.2025C>A (p.Asp675Glu)
c.1953C>A (p.Asp651Glu)
c.1899C>A (p.Asp633Glu)
c.1818C>A (p.Asp606Glu)
c.1761C>A (p.Asp587Glu)
n.2040C>A
 gnomAD v4
16g.2115505T>ACA394389816PKD1c.1970A>T (p.Asp657Val)
c.472+1984A>T
c.901A>T (n.901A>T)
c.2024A>T (p.Asp675Val)
c.1952A>T (p.Asp651Val)
c.1898A>T (p.Asp633Val)
c.1817A>T (p.Asp606Val)
c.1760A>T (p.Asp587Val)
n.2039A>T
 dbSNP
16g.2115505T>CCA394389818PKD1c.1970A>G (p.Asp657Gly)
c.472+1984A>G
c.901A>G (n.901A>G)
c.2024A>G (p.Asp675Gly)
c.1952A>G (p.Asp651Gly)
c.1898A>G (p.Asp633Gly)
c.1817A>G (p.Asp606Gly)
c.1760A>G (p.Asp587Gly)
n.2039A>G
16g.2115505T>GCA394389819PKD1c.1970A>C (p.Asp657Ala)
c.472+1984A>C
c.901A>C (n.901A>C)
c.2024A>C (p.Asp675Ala)
c.1952A>C (p.Asp651Ala)
c.1898A>C (p.Asp633Ala)
c.1817A>C (p.Asp606Ala)
c.1760A>C (p.Asp587Ala)
n.2039A>C
16g.2115505T=CA2202050406PKD1c.1970A= (p.Asp657=)
c.472+1984A=
c.901A= (n.901A=)
c.2024A= (p.Asp675=)
c.1952A= (p.Asp651=)
c.1898A= (p.Asp633=)
c.1817A= (p.Asp606=)
c.1760A= (p.Asp587=)
n.2039A=
16g.2115506C>ACA394389823PKD1c.1969G>T (p.Asp657Tyr)
c.472+1983G>T
c.900G>T (n.900G>T)
c.2023G>T (p.Asp675Tyr)
c.1951G>T (p.Asp651Tyr)
c.1897G>T (p.Asp633Tyr)
c.1816G>T (p.Asp606Tyr)
c.1759G>T (p.Asp587Tyr)
n.2038G>T
 dbSNP
16g.2115506C=CA2202050407PKD1c.1969G= (p.Asp657=)
c.472+1983G=
c.900G= (n.900G=)
c.2023G= (p.Asp675=)
c.1951G= (p.Asp651=)
c.1897G= (p.Asp633=)
c.1816G= (p.Asp606=)
c.1759G= (p.Asp587=)
n.2038G=
16g.2115506C>GCA394389821PKD1c.1969G>C (p.Asp657His)
c.472+1983G>C
c.900G>C (n.900G>C)
c.2023G>C (p.Asp675His)
c.1951G>C (p.Asp651His)
c.1897G>C (p.Asp633His)
c.1816G>C (p.Asp606His)
c.1759G>C (p.Asp587His)
n.2038G>C
16g.2115506C>TCA276783016PKD1c.1969G>A (p.Asp657Asn)
c.472+1983G>A
c.900G>A (n.900G>A)
c.2023G>A (p.Asp675Asn)
c.1951G>A (p.Asp651Asn)
c.1897G>A (p.Asp633Asn)
c.1816G>A (p.Asp606Asn)
c.1759G>A (p.Asp587Asn)
n.2038G>A
 dbSNP gnomAD v4
16g.2115507C>ACA493049930PKD1c.1968G>T (p.Leu656=)
c.472+1982G>T
c.899G>T (n.899G>T)
c.2022G>T (p.Leu674=)
c.1950G>T (p.Leu650=)
c.1896G>T (p.Leu632=)
c.1815G>T (p.Leu605=)
c.1758G>T (p.Leu586=)
n.2037G>T
 gnomAD v4
16g.2115507C>GCA493049931PKD1c.1968G>C (p.Leu656=)
c.472+1982G>C
c.899G>C (n.899G>C)
c.2022G>C (p.Leu674=)
c.1950G>C (p.Leu650=)
c.1896G>C (p.Leu632=)
c.1815G>C (p.Leu605=)
c.1758G>C (p.Leu586=)
n.2037G>C
16g.2115507C>TCA493049932PKD1c.1968G>A (p.Leu656=)
c.472+1982G>A
c.899G>A (n.899G>A)
c.2022G>A (p.Leu674=)
c.1950G>A (p.Leu650=)
c.1896G>A (p.Leu632=)
c.1815G>A (p.Leu605=)
c.1758G>A (p.Leu586=)
n.2037G>A
16g.2115508A=CA2202050408PKD1c.1967T= (p.Leu656=)
c.472+1981T=
c.898T= (n.898T=)
c.2021T= (p.Leu674=)
c.1949T= (p.Leu650=)
c.1895T= (p.Leu632=)
c.1814T= (p.Leu605=)
c.1757T= (p.Leu586=)
n.2036T=
16g.2115508A>CCA394389825PKD1c.1967T>G (p.Leu656Arg)
c.472+1981T>G
c.898T>G (n.898T>G)
c.2021T>G (p.Leu674Arg)
c.1949T>G (p.Leu650Arg)
c.1895T>G (p.Leu632Arg)
c.1814T>G (p.Leu605Arg)
c.1757T>G (p.Leu586Arg)
n.2036T>G
16g.2115508A>GCA394389826PKD1c.1967T>C (p.Leu656Pro)
c.472+1981T>C
c.898T>C (n.898T>C)
c.2021T>C (p.Leu674Pro)
c.1949T>C (p.Leu650Pro)
c.1895T>C (p.Leu632Pro)
c.1814T>C (p.Leu605Pro)
c.1757T>C (p.Leu586Pro)
n.2036T>C
16g.2115508A>TCA7833334PKD1c.1967T>A (p.Leu656Gln)
c.472+1981T>A
c.898T>A (n.898T>A)
c.2021T>A (p.Leu674Gln)
c.1949T>A (p.Leu650Gln)
c.1895T>A (p.Leu632Gln)
c.1814T>A (p.Leu605Gln)
c.1757T>A (p.Leu586Gln)
n.2036T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2115509G>ACA493049938PKD1c.1966C>T (p.Leu656=)
c.472+1980C>T
c.897C>T (n.897C>T)
c.2020C>T (p.Leu674=)
c.1948C>T (p.Leu650=)
c.1894C>T (p.Leu632=)
c.1813C>T (p.Leu605=)
c.1756C>T (p.Leu586=)
n.2035C>T
 dbSNP gnomAD v2 gnomAD v4
16g.2115509G>CCA394389828PKD1c.1966C>G (p.Leu656Val)
c.472+1980C>G
c.897C>G (n.897C>G)
c.2020C>G (p.Leu674Val)
c.1948C>G (p.Leu650Val)
c.1894C>G (p.Leu632Val)
c.1813C>G (p.Leu605Val)
c.1756C>G (p.Leu586Val)
n.2035C>G
 dbSNP gnomAD v3 gnomAD v4
16g.2115509G=CA2202050409PKD1c.1966C= (p.Leu656=)
c.472+1980C=
c.897C= (n.897C=)
c.2020C= (p.Leu674=)
c.1948C= (p.Leu650=)
c.1894C= (p.Leu632=)
c.1813C= (p.Leu605=)
c.1756C= (p.Leu586=)
n.2035C=
16g.2115509G>TCA394389830PKD1c.1966C>A (p.Leu656Met)
c.472+1980C>A
c.897C>A (n.897C>A)
c.2020C>A (p.Leu674Met)
c.1948C>A (p.Leu650Met)
c.1894C>A (p.Leu632Met)
c.1813C>A (p.Leu605Met)
c.1756C>A (p.Leu586Met)
n.2035C>A
 gnomAD v4
16g.2115510C>ACA7833335PKD1c.1965G>T (p.Pro655=)
c.472+1979G>T
c.896G>T (n.896G>T)
c.2019G>T (p.Pro673=)
c.1947G>T (p.Pro649=)
c.1893G>T (p.Pro631=)
c.1812G>T (p.Pro604=)
c.1755G>T (p.Pro585=)
n.2034G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2115510C=CA2202050410PKD1c.1965G= (p.Pro655=)
c.472+1979G=
c.896G= (n.896G=)
c.2019G= (p.Pro673=)
c.1947G= (p.Pro649=)
c.1893G= (p.Pro631=)
c.1812G= (p.Pro604=)
c.1755G= (p.Pro585=)
n.2034G=
16g.2115510C>GCA493049942PKD1c.1965G>C (p.Pro655=)
c.472+1979G>C
c.896G>C (n.896G>C)
c.2019G>C (p.Pro673=)
c.1947G>C (p.Pro649=)
c.1893G>C (p.Pro631=)
c.1812G>C (p.Pro604=)
c.1755G>C (p.Pro585=)
n.2034G>C
16g.2115510C>TCA7833336PKD1c.1965G>A (p.Pro655=)
c.472+1979G>A
c.896G>A (n.896G>A)
c.2019G>A (p.Pro673=)
c.1947G>A (p.Pro649=)
c.1893G>A (p.Pro631=)
c.1812G>A (p.Pro604=)
c.1755G>A (p.Pro585=)
n.2034G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2115511G>ACA7833337PKD1c.1964C>T (p.Pro655Leu)
c.472+1978C>T
c.895C>T (n.895C>T)
c.2018C>T (p.Pro673Leu)
c.1946C>T (p.Pro649Leu)
c.1892C>T (p.Pro631Leu)
c.1811C>T (p.Pro604Leu)
c.1754C>T (p.Pro585Leu)
n.2033C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.2115511G>CCA394389833PKD1c.1964C>G (p.Pro655Arg)
c.472+1978C>G
c.895C>G (n.895C>G)
c.2018C>G (p.Pro673Arg)
c.1946C>G (p.Pro649Arg)
c.1892C>G (p.Pro631Arg)
c.1811C>G (p.Pro604Arg)
c.1754C>G (p.Pro585Arg)
n.2033C>G
16g.2115511G=CA2202050411PKD1c.1964C= (p.Pro655=)
c.472+1978C=
c.895C= (n.895C=)
c.2018C= (p.Pro673=)
c.1946C= (p.Pro649=)
c.1892C= (p.Pro631=)
c.1811C= (p.Pro604=)
c.1754C= (p.Pro585=)
n.2033C=
16g.2115511G>TCA394389834PKD1c.1964C>A (p.Pro655Gln)
c.472+1978C>A
c.895C>A (n.895C>A)
c.2018C>A (p.Pro673Gln)
c.1946C>A (p.Pro649Gln)
c.1892C>A (p.Pro631Gln)
c.1811C>A (p.Pro604Gln)
c.1754C>A (p.Pro585Gln)
n.2033C>A
 dbSNP gnomAD v2 gnomAD v4
16g.2115512G>ACA7833338PKD1c.1963C>T (p.Pro655Ser)
c.472+1977C>T
c.894C>T (n.894C>T)
c.2017C>T (p.Pro673Ser)
c.1945C>T (p.Pro649Ser)
c.1891C>T (p.Pro631Ser)
c.1810C>T (p.Pro604Ser)
c.1753C>T (p.Pro585Ser)
n.2032C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2115512G>CCA394389836PKD1c.1963C>G (p.Pro655Ala)
c.472+1977C>G
c.894C>G (n.894C>G)
c.2017C>G (p.Pro673Ala)
c.1945C>G (p.Pro649Ala)
c.1891C>G (p.Pro631Ala)
c.1810C>G (p.Pro604Ala)
c.1753C>G (p.Pro585Ala)
n.2032C>G
16g.2115512G=CA2202050412PKD1c.1963C= (p.Pro655=)
c.472+1977C=
c.894C= (n.894C=)
c.2017C= (p.Pro673=)
c.1945C= (p.Pro649=)
c.1891C= (p.Pro631=)
c.1810C= (p.Pro604=)
c.1753C= (p.Pro585=)
n.2032C=
16g.2115512G>TCA394389838PKD1c.1963C>A (p.Pro655Thr)
c.472+1977C>A
c.894C>A (n.894C>A)
c.2017C>A (p.Pro673Thr)
c.1945C>A (p.Pro649Thr)
c.1891C>A (p.Pro631Thr)
c.1810C>A (p.Pro604Thr)
c.1753C>A (p.Pro585Thr)
n.2032C>A
16g.2115513delCA2575879158PKD1c.1962del (p.Leu654PhefsTer?)
c.472+1976del
c.893del (n.893del)
c.2016del (p.Leu672PhefsTer?)
c.1944del (p.Leu648PhefsTer?)
c.1890del (p.Leu630PhefsTer?)
c.1809del (p.Leu603PhefsTer?)
c.1752del (p.Leu584PhefsTer?)
n.2031del
16g.2115513C>ACA394389840PKD1c.1962G>T (p.Leu654Phe)
c.472+1976G>T
c.893G>T (n.893G>T)
c.2016G>T (p.Leu672Phe)
c.1944G>T (p.Leu648Phe)
c.1890G>T (p.Leu630Phe)
c.1809G>T (p.Leu603Phe)
c.1752G>T (p.Leu584Phe)
n.2031G>T
16g.2115513C>GCA394389842PKD1c.1962G>C (p.Leu654Phe)
c.472+1976G>C
c.893G>C (n.893G>C)
c.2016G>C (p.Leu672Phe)
c.1944G>C (p.Leu648Phe)
c.1890G>C (p.Leu630Phe)
c.1809G>C (p.Leu603Phe)
c.1752G>C (p.Leu584Phe)
n.2031G>C
16g.2115513C>TCA493049955PKD1c.1962G>A (p.Leu654=)
c.472+1976G>A
c.893G>A (n.893G>A)
c.2016G>A (p.Leu672=)
c.1944G>A (p.Leu648=)
c.1890G>A (p.Leu630=)
c.1809G>A (p.Leu603=)
c.1752G>A (p.Leu584=)
n.2031G>A
 gnomAD v4
16g.2115514A>CCA394389843PKD1c.1961T>G (p.Leu654Trp)
c.472+1975T>G
c.892T>G (n.892T>G)
c.2015T>G (p.Leu672Trp)
c.1943T>G (p.Leu648Trp)
c.1889T>G (p.Leu630Trp)
c.1808T>G (p.Leu603Trp)
c.1751T>G (p.Leu584Trp)
n.2030T>G
16g.2115514A>GCA394389846PKD1c.1961T>C (p.Leu654Ser)
c.472+1975T>C
c.892T>C (n.892T>C)
c.2015T>C (p.Leu672Ser)
c.1943T>C (p.Leu648Ser)
c.1889T>C (p.Leu630Ser)
c.1808T>C (p.Leu603Ser)
c.1751T>C (p.Leu584Ser)
n.2030T>C
16g.2115514A>TCA394389845PKD1c.1961T>A (p.Leu654Ter)
c.472+1975T>A
c.892T>A (n.892T>A)
c.2015T>A (p.Leu672Ter)
c.1943T>A (p.Leu648Ter)
c.1889T>A (p.Leu630Ter)
c.1808T>A (p.Leu603Ter)
c.1751T>A (p.Leu584Ter)
n.2030T>A
16g.2115515A>CCA394389849PKD1c.1960T>G (p.Leu654Val)
c.472+1974T>G
c.891T>G (n.891T>G)
c.2014T>G (p.Leu672Val)
c.1942T>G (p.Leu648Val)
c.1888T>G (p.Leu630Val)
c.1807T>G (p.Leu603Val)
c.1750T>G (p.Leu584Val)
n.2029T>G
16g.2115515A>GCA493049965PKD1c.1960T>C (p.Leu654=)
c.472+1974T>C
c.891T>C (n.891T>C)
c.2014T>C (p.Leu672=)
c.1942T>C (p.Leu648=)
c.1888T>C (p.Leu630=)
c.1807T>C (p.Leu603=)
c.1750T>C (p.Leu584=)
n.2029T>C
16g.2115515A>TCA394389851PKD1c.1960T>A (p.Leu654Met)
c.472+1974T>A
c.891T>A (n.891T>A)
c.2014T>A (p.Leu672Met)
c.1942T>A (p.Leu648Met)
c.1888T>A (p.Leu630Met)
c.1807T>A (p.Leu603Met)
c.1750T>A (p.Leu584Met)
n.2029T>A
16g.2115516G>ACA493049968PKD1c.1959C>T (p.Cys653=)
c.472+1973C>T
c.890C>T (n.890C>T)
c.2013C>T (p.Cys671=)
c.1941C>T (p.Cys647=)
c.1887C>T (p.Cys629=)
c.1806C>T (p.Cys602=)
c.1749C>T (p.Cys583=)
n.2028C>T
 dbSNP
16g.2115516G>CCA394389852PKD1c.1959C>G (p.Cys653Trp)
c.472+1973C>G
c.890C>G (n.890C>G)
c.2013C>G (p.Cys671Trp)
c.1941C>G (p.Cys647Trp)
c.1887C>G (p.Cys629Trp)
c.1806C>G (p.Cys602Trp)
c.1749C>G (p.Cys583Trp)
n.2028C>G
16g.2115516G=CA2202050413PKD1c.1959C= (p.Cys653=)
c.472+1973C=
c.890C= (n.890C=)
c.2013C= (p.Cys671=)
c.1941C= (p.Cys647=)
c.1887C= (p.Cys629=)
c.1806C= (p.Cys602=)
c.1749C= (p.Cys583=)
n.2028C=
16g.2115516G>TCA394389854PKD1c.1959C>A (p.Cys653Ter)
c.472+1973C>A
c.890C>A (n.890C>A)
c.2013C>A (p.Cys671Ter)
c.1941C>A (p.Cys647Ter)
c.1887C>A (p.Cys629Ter)
c.1806C>A (p.Cys602Ter)
c.1749C>A (p.Cys583Ter)
n.2028C>A
 gnomAD v4

Number of alleles fetched