Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.141168393_141168419delCA2688780424DENND3c.2143_2169del (p.Asp715_Leu723del)
c.1903_1929del (p.Asp635_Leu643del)
c.1747_1773del (p.Asp583_Leu591del)
c.1916_1942del
n.1684_1710del
c.1942_1968del (p.Asp648_Leu656del)
c.1786_1812del (p.Asp596_Leu604del)
c.1909_1935del (p.Asp637_Leu645del)
c.1399_1425del (p.Asp467_Leu475del)
c.1576_1602del (p.Asp526_Leu534del)
c.1570_1596del (p.Asp524_Leu532del)
c.1111_1137del (p.Asp371_Leu379del)
c.640_666del (p.Asp214_Leu222del)
n.2072_2098del
n.2239_2265del
c.1987_2013del (p.Asp663_Leu671del)
c.679_705del (p.Asp227_Leu235del)
n.2289_2315del
n.2262_2288del
 gnomAD v4
8g.141168392G>ACA463496980DENND3c.2142G>A (p.Leu714=)
c.1902G>A (p.Leu634=)
c.1746G>A (p.Leu582=)
c.1915G>A
n.1683G>A
c.1941G>A (p.Leu647=)
c.1785G>A (p.Leu595=)
c.1908G>A (p.Leu636=)
c.1398G>A (p.Leu466=)
c.1575G>A (p.Leu525=)
c.1569G>A (p.Leu523=)
c.1110G>A (p.Leu370=)
c.639G>A (p.Leu213=)
n.2071G>A
n.2238G>A
c.1986G>A (p.Leu662=)
c.678G>A (p.Leu226=)
n.2288G>A
n.2261G>A
8g.141168392G>CCA463496981DENND3c.2142G>C (p.Leu714=)
c.1902G>C (p.Leu634=)
c.1746G>C (p.Leu582=)
c.1915G>C
n.1683G>C
c.1941G>C (p.Leu647=)
c.1785G>C (p.Leu595=)
c.1908G>C (p.Leu636=)
c.1398G>C (p.Leu466=)
c.1575G>C (p.Leu525=)
c.1569G>C (p.Leu523=)
c.1110G>C (p.Leu370=)
c.639G>C (p.Leu213=)
n.2071G>C
n.2238G>C
c.1986G>C (p.Leu662=)
c.678G>C (p.Leu226=)
n.2288G>C
n.2261G>C
8g.141168392G>TCA463496982DENND3c.2142G>T (p.Leu714=)
c.1902G>T (p.Leu634=)
c.1746G>T (p.Leu582=)
c.1915G>T
n.1683G>T
c.1941G>T (p.Leu647=)
c.1785G>T (p.Leu595=)
c.1908G>T (p.Leu636=)
c.1398G>T (p.Leu466=)
c.1575G>T (p.Leu525=)
c.1569G>T (p.Leu523=)
c.1110G>T (p.Leu370=)
c.639G>T (p.Leu213=)
n.2071G>T
n.2238G>T
c.1986G>T (p.Leu662=)
c.678G>T (p.Leu226=)
n.2288G>T
n.2261G>T
8g.141168393G>ACA372344308DENND3c.2143G>A (p.Asp715Asn)
c.1903G>A (p.Asp635Asn)
c.1747G>A (p.Asp583Asn)
c.1916G>A
n.1684G>A
c.1942G>A (p.Asp648Asn)
c.1786G>A (p.Asp596Asn)
c.1909G>A (p.Asp637Asn)
c.1399G>A (p.Asp467Asn)
c.1576G>A (p.Asp526Asn)
c.1570G>A (p.Asp524Asn)
c.1111G>A (p.Asp371Asn)
c.640G>A (p.Asp214Asn)
n.2072G>A
n.2239G>A
c.1987G>A (p.Asp663Asn)
c.679G>A (p.Asp227Asn)
n.2289G>A
n.2262G>A
 gnomAD v4
8g.141168393G>CCA372344309DENND3c.2143G>C (p.Asp715His)
c.1903G>C (p.Asp635His)
c.1747G>C (p.Asp583His)
c.1916G>C
n.1684G>C
c.1942G>C (p.Asp648His)
c.1786G>C (p.Asp596His)
c.1909G>C (p.Asp637His)
c.1399G>C (p.Asp467His)
c.1576G>C (p.Asp526His)
c.1570G>C (p.Asp524His)
c.1111G>C (p.Asp371His)
c.640G>C (p.Asp214His)
n.2072G>C
n.2239G>C
c.1987G>C (p.Asp663His)
c.679G>C (p.Asp227His)
n.2289G>C
n.2262G>C
8g.141168393G>TCA372344310DENND3c.2143G>T (p.Asp715Tyr)
c.1903G>T (p.Asp635Tyr)
c.1747G>T (p.Asp583Tyr)
c.1916G>T
n.1684G>T
c.1942G>T (p.Asp648Tyr)
c.1786G>T (p.Asp596Tyr)
c.1909G>T (p.Asp637Tyr)
c.1399G>T (p.Asp467Tyr)
c.1576G>T (p.Asp526Tyr)
c.1570G>T (p.Asp524Tyr)
c.1111G>T (p.Asp371Tyr)
c.640G>T (p.Asp214Tyr)
n.2072G>T
n.2239G>T
c.1987G>T (p.Asp663Tyr)
c.679G>T (p.Asp227Tyr)
n.2289G>T
n.2262G>T
8g.141168394A>CCA372344311DENND3c.2144A>C (p.Asp715Ala)
c.1904A>C (p.Asp635Ala)
c.1748A>C (p.Asp583Ala)
c.1917A>C
n.1685A>C
c.1943A>C (p.Asp648Ala)
c.1787A>C (p.Asp596Ala)
c.1910A>C (p.Asp637Ala)
c.1400A>C (p.Asp467Ala)
c.1577A>C (p.Asp526Ala)
c.1571A>C (p.Asp524Ala)
c.1112A>C (p.Asp371Ala)
c.641A>C (p.Asp214Ala)
n.2073A>C
n.2240A>C
c.1988A>C (p.Asp663Ala)
c.680A>C (p.Asp227Ala)
n.2290A>C
n.2263A>C
 gnomAD v4
8g.141168394A>GCA372344312DENND3c.2144A>G (p.Asp715Gly)
c.1904A>G (p.Asp635Gly)
c.1748A>G (p.Asp583Gly)
c.1917A>G
n.1685A>G
c.1943A>G (p.Asp648Gly)
c.1787A>G (p.Asp596Gly)
c.1910A>G (p.Asp637Gly)
c.1400A>G (p.Asp467Gly)
c.1577A>G (p.Asp526Gly)
c.1571A>G (p.Asp524Gly)
c.1112A>G (p.Asp371Gly)
c.641A>G (p.Asp214Gly)
n.2073A>G
n.2240A>G
c.1988A>G (p.Asp663Gly)
c.680A>G (p.Asp227Gly)
n.2290A>G
n.2263A>G
 dbSNP
8g.141168394A>TCA372344313DENND3c.2144A>T (p.Asp715Val)
c.1904A>T (p.Asp635Val)
c.1748A>T (p.Asp583Val)
c.1917A>T
n.1685A>T
c.1943A>T (p.Asp648Val)
c.1787A>T (p.Asp596Val)
c.1910A>T (p.Asp637Val)
c.1400A>T (p.Asp467Val)
c.1577A>T (p.Asp526Val)
c.1571A>T (p.Asp524Val)
c.1112A>T (p.Asp371Val)
c.641A>T (p.Asp214Val)
n.2073A>T
n.2240A>T
c.1988A>T (p.Asp663Val)
c.680A>T (p.Asp227Val)
n.2290A>T
n.2263A>T
8g.141168395C>ACA4896814DENND3c.2145C>A (p.Asp715Glu)
c.1905C>A (p.Asp635Glu)
c.1749C>A (p.Asp583Glu)
c.1918C>A
n.1686C>A
c.1944C>A (p.Asp648Glu)
c.1788C>A (p.Asp596Glu)
c.1911C>A (p.Asp637Glu)
c.1401C>A (p.Asp467Glu)
c.1578C>A (p.Asp526Glu)
c.1572C>A (p.Asp524Glu)
c.1113C>A (p.Asp371Glu)
c.642C>A (p.Asp214Glu)
n.2074C>A
n.2241C>A
c.1989C>A (p.Asp663Glu)
c.681C>A (p.Asp227Glu)
n.2291C>A
n.2264C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.141168395C>GCA372344314DENND3c.2145C>G (p.Asp715Glu)
c.1905C>G (p.Asp635Glu)
c.1749C>G (p.Asp583Glu)
c.1918C>G
n.1686C>G
c.1944C>G (p.Asp648Glu)
c.1788C>G (p.Asp596Glu)
c.1911C>G (p.Asp637Glu)
c.1401C>G (p.Asp467Glu)
c.1578C>G (p.Asp526Glu)
c.1572C>G (p.Asp524Glu)
c.1113C>G (p.Asp371Glu)
c.642C>G (p.Asp214Glu)
n.2074C>G
n.2241C>G
c.1989C>G (p.Asp663Glu)
c.681C>G (p.Asp227Glu)
n.2291C>G
n.2264C>G
8g.141168395C>TCA4896813DENND3c.2145C>T (p.Asp715=)
c.1905C>T (p.Asp635=)
c.1749C>T (p.Asp583=)
c.1918C>T
n.1686C>T
c.1944C>T (p.Asp648=)
c.1788C>T (p.Asp596=)
c.1911C>T (p.Asp637=)
c.1401C>T (p.Asp467=)
c.1578C>T (p.Asp526=)
c.1572C>T (p.Asp524=)
c.1113C>T (p.Asp371=)
c.642C>T (p.Asp214=)
n.2074C>T
n.2241C>T
c.1989C>T (p.Asp663=)
c.681C>T (p.Asp227=)
n.2291C>T
n.2264C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.141168396G>ACA372344315DENND3c.2146G>A (p.Asp716Asn)
c.1906G>A (p.Asp636Asn)
c.1750G>A (p.Asp584Asn)
c.1919G>A
n.1687G>A
c.1945G>A (p.Asp649Asn)
c.1789G>A (p.Asp597Asn)
c.1912G>A (p.Asp638Asn)
c.1402G>A (p.Asp468Asn)
c.1579G>A (p.Asp527Asn)
c.1573G>A (p.Asp525Asn)
c.1114G>A (p.Asp372Asn)
c.643G>A (p.Asp215Asn)
n.2075G>A
n.2242G>A
c.1990G>A (p.Asp664Asn)
c.682G>A (p.Asp228Asn)
n.2292G>A
n.2265G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC
8g.141168396G>CCA372344317DENND3c.2146G>C (p.Asp716His)
c.1906G>C (p.Asp636His)
c.1750G>C (p.Asp584His)
c.1919G>C
n.1687G>C
c.1945G>C (p.Asp649His)
c.1789G>C (p.Asp597His)
c.1912G>C (p.Asp638His)
c.1402G>C (p.Asp468His)
c.1579G>C (p.Asp527His)
c.1573G>C (p.Asp525His)
c.1114G>C (p.Asp372His)
c.643G>C (p.Asp215His)
n.2075G>C
n.2242G>C
c.1990G>C (p.Asp664His)
c.682G>C (p.Asp228His)
n.2292G>C
n.2265G>C
8g.141168396G>TCA372344316DENND3c.2146G>T (p.Asp716Tyr)
c.1906G>T (p.Asp636Tyr)
c.1750G>T (p.Asp584Tyr)
c.1919G>T
n.1687G>T
c.1945G>T (p.Asp649Tyr)
c.1789G>T (p.Asp597Tyr)
c.1912G>T (p.Asp638Tyr)
c.1402G>T (p.Asp468Tyr)
c.1579G>T (p.Asp527Tyr)
c.1573G>T (p.Asp525Tyr)
c.1114G>T (p.Asp372Tyr)
c.643G>T (p.Asp215Tyr)
n.2075G>T
n.2242G>T
c.1990G>T (p.Asp664Tyr)
c.682G>T (p.Asp228Tyr)
n.2292G>T
n.2265G>T
8g.141168397A>CCA372344318DENND3c.2147A>C (p.Asp716Ala)
c.1907A>C (p.Asp636Ala)
c.1751A>C (p.Asp584Ala)
c.1920A>C
n.1688A>C
c.1946A>C (p.Asp649Ala)
c.1790A>C (p.Asp597Ala)
c.1913A>C (p.Asp638Ala)
c.1403A>C (p.Asp468Ala)
c.1580A>C (p.Asp527Ala)
c.1574A>C (p.Asp525Ala)
c.1115A>C (p.Asp372Ala)
c.644A>C (p.Asp215Ala)
n.2076A>C
n.2243A>C
c.1991A>C (p.Asp664Ala)
c.683A>C (p.Asp228Ala)
n.2293A>C
n.2266A>C
8g.141168397A>GCA372344319DENND3c.2147A>G (p.Asp716Gly)
c.1907A>G (p.Asp636Gly)
c.1751A>G (p.Asp584Gly)
c.1920A>G
n.1688A>G
c.1946A>G (p.Asp649Gly)
c.1790A>G (p.Asp597Gly)
c.1913A>G (p.Asp638Gly)
c.1403A>G (p.Asp468Gly)
c.1580A>G (p.Asp527Gly)
c.1574A>G (p.Asp525Gly)
c.1115A>G (p.Asp372Gly)
c.644A>G (p.Asp215Gly)
n.2076A>G
n.2243A>G
c.1991A>G (p.Asp664Gly)
c.683A>G (p.Asp228Gly)
n.2293A>G
n.2266A>G
 gnomAD v4
8g.141168397A>TCA372344320DENND3c.2147A>T (p.Asp716Val)
c.1907A>T (p.Asp636Val)
c.1751A>T (p.Asp584Val)
c.1920A>T
n.1688A>T
c.1946A>T (p.Asp649Val)
c.1790A>T (p.Asp597Val)
c.1913A>T (p.Asp638Val)
c.1403A>T (p.Asp468Val)
c.1580A>T (p.Asp527Val)
c.1574A>T (p.Asp525Val)
c.1115A>T (p.Asp372Val)
c.644A>T (p.Asp215Val)
n.2076A>T
n.2243A>T
c.1991A>T (p.Asp664Val)
c.683A>T (p.Asp228Val)
n.2293A>T
n.2266A>T
8g.141168398C>ACA372344321DENND3c.2148C>A (p.Asp716Glu)
c.1908C>A (p.Asp636Glu)
c.1752C>A (p.Asp584Glu)
c.1921C>A
n.1689C>A
c.1947C>A (p.Asp649Glu)
c.1791C>A (p.Asp597Glu)
c.1914C>A (p.Asp638Glu)
c.1404C>A (p.Asp468Glu)
c.1581C>A (p.Asp527Glu)
c.1575C>A (p.Asp525Glu)
c.1116C>A (p.Asp372Glu)
c.645C>A (p.Asp215Glu)
n.2077C>A
n.2244C>A
c.1992C>A (p.Asp664Glu)
c.684C>A (p.Asp228Glu)
n.2294C>A
n.2267C>A
8g.141168398C>GCA372344322DENND3c.2148C>G (p.Asp716Glu)
c.1908C>G (p.Asp636Glu)
c.1752C>G (p.Asp584Glu)
c.1921C>G
n.1689C>G
c.1947C>G (p.Asp649Glu)
c.1791C>G (p.Asp597Glu)
c.1914C>G (p.Asp638Glu)
c.1404C>G (p.Asp468Glu)
c.1581C>G (p.Asp527Glu)
c.1575C>G (p.Asp525Glu)
c.1116C>G (p.Asp372Glu)
c.645C>G (p.Asp215Glu)
n.2077C>G
n.2244C>G
c.1992C>G (p.Asp664Glu)
c.684C>G (p.Asp228Glu)
n.2294C>G
n.2267C>G
8g.141168398C>TCA463496984DENND3c.2148C>T (p.Asp716=)
c.1908C>T (p.Asp636=)
c.1752C>T (p.Asp584=)
c.1921C>T
n.1689C>T
c.1947C>T (p.Asp649=)
c.1791C>T (p.Asp597=)
c.1914C>T (p.Asp638=)
c.1404C>T (p.Asp468=)
c.1581C>T (p.Asp527=)
c.1575C>T (p.Asp525=)
c.1116C>T (p.Asp372=)
c.645C>T (p.Asp215=)
n.2077C>T
n.2244C>T
c.1992C>T (p.Asp664=)
c.684C>T (p.Asp228=)
n.2294C>T
n.2267C>T
8g.141168399C>ACA4896815DENND3c.2149C>A (p.His717Asn)
c.1909C>A (p.His637Asn)
c.1753C>A (p.His585Asn)
c.1922C>A
n.1690C>A
c.1948C>A (p.His650Asn)
c.1792C>A (p.His598Asn)
c.1915C>A (p.His639Asn)
c.1405C>A (p.His469Asn)
c.1582C>A (p.His528Asn)
c.1576C>A (p.His526Asn)
c.1117C>A (p.His373Asn)
c.646C>A (p.His216Asn)
n.2078C>A
n.2245C>A
c.1993C>A (p.His665Asn)
c.685C>A (p.His229Asn)
n.2295C>A
n.2268C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.141168399C>GCA372344323DENND3c.2149C>G (p.His717Asp)
c.1909C>G (p.His637Asp)
c.1753C>G (p.His585Asp)
c.1922C>G
n.1690C>G
c.1948C>G (p.His650Asp)
c.1792C>G (p.His598Asp)
c.1915C>G (p.His639Asp)
c.1405C>G (p.His469Asp)
c.1582C>G (p.His528Asp)
c.1576C>G (p.His526Asp)
c.1117C>G (p.His373Asp)
c.646C>G (p.His216Asp)
n.2078C>G
n.2245C>G
c.1993C>G (p.His665Asp)
c.685C>G (p.His229Asp)
n.2295C>G
n.2268C>G
 ClinVar
8g.141168399C>TCA372344324DENND3c.2149C>T (p.His717Tyr)
c.1909C>T (p.His637Tyr)
c.1753C>T (p.His585Tyr)
c.1922C>T
n.1690C>T
c.1948C>T (p.His650Tyr)
c.1792C>T (p.His598Tyr)
c.1915C>T (p.His639Tyr)
c.1405C>T (p.His469Tyr)
c.1582C>T (p.His528Tyr)
c.1576C>T (p.His526Tyr)
c.1117C>T (p.His373Tyr)
c.646C>T (p.His216Tyr)
n.2078C>T
n.2245C>T
c.1993C>T (p.His665Tyr)
c.685C>T (p.His229Tyr)
n.2295C>T
n.2268C>T
8g.141168400delCA585724934DENND3c.2150del (p.His717ProfsTer2)
c.1910del (p.His637ProfsTer2)
c.1754del (p.His585ProfsTer2)
c.1923del
n.1691del
c.1949del (p.His650ProfsTer2)
c.1793del (p.His598ProfsTer2)
c.1916del (p.His639ProfsTer2)
c.1406del (p.His469ProfsTer2)
c.1583del (p.His528ProfsTer2)
c.1577del (p.His526ProfsTer2)
c.1118del (p.His373ProfsTer2)
c.647del (p.His216ProfsTer2)
n.2079del
n.2246del
c.1994del (p.His665ProfsTer2)
c.686del (p.His229ProfsTer2)
n.2296del
n.2269del
 dbSNP gnomAD v2 gnomAD v4
8g.141168400A>CCA372344325DENND3c.2150A>C (p.His717Pro)
c.1910A>C (p.His637Pro)
c.1754A>C (p.His585Pro)
c.1923A>C
n.1691A>C
c.1949A>C (p.His650Pro)
c.1793A>C (p.His598Pro)
c.1916A>C (p.His639Pro)
c.1406A>C (p.His469Pro)
c.1583A>C (p.His528Pro)
c.1577A>C (p.His526Pro)
c.1118A>C (p.His373Pro)
c.647A>C (p.His216Pro)
n.2079A>C
n.2246A>C
c.1994A>C (p.His665Pro)
c.686A>C (p.His229Pro)
n.2296A>C
n.2269A>C
8g.141168400A>GCA372344326DENND3c.2150A>G (p.His717Arg)
c.1910A>G (p.His637Arg)
c.1754A>G (p.His585Arg)
c.1923A>G
n.1691A>G
c.1949A>G (p.His650Arg)
c.1793A>G (p.His598Arg)
c.1916A>G (p.His639Arg)
c.1406A>G (p.His469Arg)
c.1583A>G (p.His528Arg)
c.1577A>G (p.His526Arg)
c.1118A>G (p.His373Arg)
c.647A>G (p.His216Arg)
n.2079A>G
n.2246A>G
c.1994A>G (p.His665Arg)
c.686A>G (p.His229Arg)
n.2296A>G
n.2269A>G
8g.141168400A>TCA372344327DENND3c.2150A>T (p.His717Leu)
c.1910A>T (p.His637Leu)
c.1754A>T (p.His585Leu)
c.1923A>T
n.1691A>T
c.1949A>T (p.His650Leu)
c.1793A>T (p.His598Leu)
c.1916A>T (p.His639Leu)
c.1406A>T (p.His469Leu)
c.1583A>T (p.His528Leu)
c.1577A>T (p.His526Leu)
c.1118A>T (p.His373Leu)
c.647A>T (p.His216Leu)
n.2079A>T
n.2246A>T
c.1994A>T (p.His665Leu)
c.686A>T (p.His229Leu)
n.2296A>T
n.2269A>T
8g.141168401C>ACA372344329DENND3c.2151C>A (p.His717Gln)
c.1911C>A (p.His637Gln)
c.1755C>A (p.His585Gln)
c.1924C>A
n.1692C>A
c.1950C>A (p.His650Gln)
c.1794C>A (p.His598Gln)
c.1917C>A (p.His639Gln)
c.1407C>A (p.His469Gln)
c.1584C>A (p.His528Gln)
c.1578C>A (p.His526Gln)
c.1119C>A (p.His373Gln)
c.648C>A (p.His216Gln)
n.2080C>A
n.2247C>A
c.1995C>A (p.His665Gln)
c.687C>A (p.His229Gln)
n.2297C>A
n.2270C>A
8g.141168401C>GCA372344328DENND3c.2151C>G (p.His717Gln)
c.1911C>G (p.His637Gln)
c.1755C>G (p.His585Gln)
c.1924C>G
n.1692C>G
c.1950C>G (p.His650Gln)
c.1794C>G (p.His598Gln)
c.1917C>G (p.His639Gln)
c.1407C>G (p.His469Gln)
c.1584C>G (p.His528Gln)
c.1578C>G (p.His526Gln)
c.1119C>G (p.His373Gln)
c.648C>G (p.His216Gln)
n.2080C>G
n.2247C>G
c.1995C>G (p.His665Gln)
c.687C>G (p.His229Gln)
n.2297C>G
n.2270C>G
8g.141168401C>TCA4896816DENND3c.2151C>T (p.His717=)
c.1911C>T (p.His637=)
c.1755C>T (p.His585=)
c.1924C>T
n.1692C>T
c.1950C>T (p.His650=)
c.1794C>T (p.His598=)
c.1917C>T (p.His639=)
c.1407C>T (p.His469=)
c.1584C>T (p.His528=)
c.1578C>T (p.His526=)
c.1119C>T (p.His373=)
c.648C>T (p.His216=)
n.2080C>T
n.2247C>T
c.1995C>T (p.His665=)
c.687C>T (p.His229=)
n.2297C>T
n.2270C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.141168402G>ACA4896817DENND3c.2152G>A (p.Val718Met)
c.1912G>A (p.Val638Met)
c.1756G>A (p.Val586Met)
c.1925G>A
n.1693G>A
c.1951G>A (p.Val651Met)
c.1795G>A (p.Val599Met)
c.1918G>A (p.Val640Met)
c.1408G>A (p.Val470Met)
c.1585G>A (p.Val529Met)
c.1579G>A (p.Val527Met)
c.1120G>A (p.Val374Met)
c.649G>A (p.Val217Met)
n.2081G>A
n.2248G>A
c.1996G>A (p.Val666Met)
c.688G>A (p.Val230Met)
n.2298G>A
n.2271G>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
8g.141168402G>CCA372344330DENND3c.2152G>C (p.Val718Leu)
c.1912G>C (p.Val638Leu)
c.1756G>C (p.Val586Leu)
c.1925G>C
n.1693G>C
c.1951G>C (p.Val651Leu)
c.1795G>C (p.Val599Leu)
c.1918G>C (p.Val640Leu)
c.1408G>C (p.Val470Leu)
c.1585G>C (p.Val529Leu)
c.1579G>C (p.Val527Leu)
c.1120G>C (p.Val374Leu)
c.649G>C (p.Val217Leu)
n.2081G>C
n.2248G>C
c.1996G>C (p.Val666Leu)
c.688G>C (p.Val230Leu)
n.2298G>C
n.2271G>C
8g.141168402G>TCA372344331DENND3c.2152G>T (p.Val718Leu)
c.1912G>T (p.Val638Leu)
c.1756G>T (p.Val586Leu)
c.1925G>T
n.1693G>T
c.1951G>T (p.Val651Leu)
c.1795G>T (p.Val599Leu)
c.1918G>T (p.Val640Leu)
c.1408G>T (p.Val470Leu)
c.1585G>T (p.Val529Leu)
c.1579G>T (p.Val527Leu)
c.1120G>T (p.Val374Leu)
c.649G>T (p.Val217Leu)
n.2081G>T
n.2248G>T
c.1996G>T (p.Val666Leu)
c.688G>T (p.Val230Leu)
n.2298G>T
n.2271G>T
 dbSNP
8g.141168403T>ACA372344332DENND3c.2153T>A (p.Val718Glu)
c.1913T>A (p.Val638Glu)
c.1757T>A (p.Val586Glu)
c.1926T>A
n.1694T>A
c.1952T>A (p.Val651Glu)
c.1796T>A (p.Val599Glu)
c.1919T>A (p.Val640Glu)
c.1409T>A (p.Val470Glu)
c.1586T>A (p.Val529Glu)
c.1580T>A (p.Val527Glu)
c.1121T>A (p.Val374Glu)
c.650T>A (p.Val217Glu)
n.2082T>A
n.2249T>A
c.1997T>A (p.Val666Glu)
c.689T>A (p.Val230Glu)
n.2299T>A
n.2272T>A
8g.141168403T>CCA372344333DENND3c.2153T>C (p.Val718Ala)
c.1913T>C (p.Val638Ala)
c.1757T>C (p.Val586Ala)
c.1926T>C
n.1694T>C
c.1952T>C (p.Val651Ala)
c.1796T>C (p.Val599Ala)
c.1919T>C (p.Val640Ala)
c.1409T>C (p.Val470Ala)
c.1586T>C (p.Val529Ala)
c.1580T>C (p.Val527Ala)
c.1121T>C (p.Val374Ala)
c.650T>C (p.Val217Ala)
n.2082T>C
n.2249T>C
c.1997T>C (p.Val666Ala)
c.689T>C (p.Val230Ala)
n.2299T>C
n.2272T>C
8g.141168403T>GCA372344334DENND3c.2153T>G (p.Val718Gly)
c.1913T>G (p.Val638Gly)
c.1757T>G (p.Val586Gly)
c.1926T>G
n.1694T>G
c.1952T>G (p.Val651Gly)
c.1796T>G (p.Val599Gly)
c.1919T>G (p.Val640Gly)
c.1409T>G (p.Val470Gly)
c.1586T>G (p.Val529Gly)
c.1580T>G (p.Val527Gly)
c.1121T>G (p.Val374Gly)
c.650T>G (p.Val217Gly)
n.2082T>G
n.2249T>G
c.1997T>G (p.Val666Gly)
c.689T>G (p.Val230Gly)
n.2299T>G
n.2272T>G
8g.141168404G>ACA463496988DENND3c.2154G>A (p.Val718=)
c.1914G>A (p.Val638=)
c.1758G>A (p.Val586=)
c.1927G>A
n.1695G>A
c.1953G>A (p.Val651=)
c.1797G>A (p.Val599=)
c.1920G>A (p.Val640=)
c.1410G>A (p.Val470=)
c.1587G>A (p.Val529=)
c.1581G>A (p.Val527=)
c.1122G>A (p.Val374=)
c.651G>A (p.Val217=)
n.2083G>A
n.2250G>A
c.1998G>A (p.Val666=)
c.690G>A (p.Val230=)
n.2300G>A
n.2273G>A
 gnomAD v4
8g.141168404G>CCA463496989DENND3c.2154G>C (p.Val718=)
c.1914G>C (p.Val638=)
c.1758G>C (p.Val586=)
c.1927G>C
n.1695G>C
c.1953G>C (p.Val651=)
c.1797G>C (p.Val599=)
c.1920G>C (p.Val640=)
c.1410G>C (p.Val470=)
c.1587G>C (p.Val529=)
c.1581G>C (p.Val527=)
c.1122G>C (p.Val374=)
c.651G>C (p.Val217=)
n.2083G>C
n.2250G>C
c.1998G>C (p.Val666=)
c.690G>C (p.Val230=)
n.2300G>C
n.2273G>C
8g.141168404G>TCA463496991DENND3c.2154G>T (p.Val718=)
c.1914G>T (p.Val638=)
c.1758G>T (p.Val586=)
c.1927G>T
n.1695G>T
c.1953G>T (p.Val651=)
c.1797G>T (p.Val599=)
c.1920G>T (p.Val640=)
c.1410G>T (p.Val470=)
c.1587G>T (p.Val529=)
c.1581G>T (p.Val527=)
c.1122G>T (p.Val374=)
c.651G>T (p.Val217=)
n.2083G>T
n.2250G>T
c.1998G>T (p.Val666=)
c.690G>T (p.Val230=)
n.2300G>T
n.2273G>T
8g.141168405A>CCA372344335DENND3c.2155A>C (p.Lys719Gln)
c.1915A>C (p.Lys639Gln)
c.1759A>C (p.Lys587Gln)
c.1928A>C
n.1696A>C
c.1954A>C (p.Lys652Gln)
c.1798A>C (p.Lys600Gln)
c.1921A>C (p.Lys641Gln)
c.1411A>C (p.Lys471Gln)
c.1588A>C (p.Lys530Gln)
c.1582A>C (p.Lys528Gln)
c.1123A>C (p.Lys375Gln)
c.652A>C (p.Lys218Gln)
n.2084A>C
n.2251A>C
c.1999A>C (p.Lys667Gln)
c.691A>C (p.Lys231Gln)
n.2301A>C
n.2274A>C
8g.141168405A>GCA372344336DENND3c.2155A>G (p.Lys719Glu)
c.1915A>G (p.Lys639Glu)
c.1759A>G (p.Lys587Glu)
c.1928A>G
n.1696A>G
c.1954A>G (p.Lys652Glu)
c.1798A>G (p.Lys600Glu)
c.1921A>G (p.Lys641Glu)
c.1411A>G (p.Lys471Glu)
c.1588A>G (p.Lys530Glu)
c.1582A>G (p.Lys528Glu)
c.1123A>G (p.Lys375Glu)
c.652A>G (p.Lys218Glu)
n.2084A>G
n.2251A>G
c.1999A>G (p.Lys667Glu)
c.691A>G (p.Lys231Glu)
n.2301A>G
n.2274A>G
8g.141168405A>TCA372344337DENND3c.2155A>T (p.Lys719Ter)
c.1915A>T (p.Lys639Ter)
c.1759A>T (p.Lys587Ter)
c.1928A>T
n.1696A>T
c.1954A>T (p.Lys652Ter)
c.1798A>T (p.Lys600Ter)
c.1921A>T (p.Lys641Ter)
c.1411A>T (p.Lys471Ter)
c.1588A>T (p.Lys530Ter)
c.1582A>T (p.Lys528Ter)
c.1123A>T (p.Lys375Ter)
c.652A>T (p.Lys218Ter)
n.2084A>T
n.2251A>T
c.1999A>T (p.Lys667Ter)
c.691A>T (p.Lys231Ter)
n.2301A>T
n.2274A>T
8g.141168406A>CCA372344338DENND3c.2156A>C (p.Lys719Thr)
c.1916A>C (p.Lys639Thr)
c.1760A>C (p.Lys587Thr)
c.1929A>C
n.1697A>C
c.1955A>C (p.Lys652Thr)
c.1799A>C (p.Lys600Thr)
c.1922A>C (p.Lys641Thr)
c.1412A>C (p.Lys471Thr)
c.1589A>C (p.Lys530Thr)
c.1583A>C (p.Lys528Thr)
c.1124A>C (p.Lys375Thr)
c.653A>C (p.Lys218Thr)
n.2085A>C
n.2252A>C
c.2000A>C (p.Lys667Thr)
c.692A>C (p.Lys231Thr)
n.2302A>C
n.2275A>C
8g.141168406A>GCA372344339DENND3c.2156A>G (p.Lys719Arg)
c.1916A>G (p.Lys639Arg)
c.1760A>G (p.Lys587Arg)
c.1929A>G
n.1697A>G
c.1955A>G (p.Lys652Arg)
c.1799A>G (p.Lys600Arg)
c.1922A>G (p.Lys641Arg)
c.1412A>G (p.Lys471Arg)
c.1589A>G (p.Lys530Arg)
c.1583A>G (p.Lys528Arg)
c.1124A>G (p.Lys375Arg)
c.653A>G (p.Lys218Arg)
n.2085A>G
n.2252A>G
c.2000A>G (p.Lys667Arg)
c.692A>G (p.Lys231Arg)
n.2302A>G
n.2275A>G
8g.141168406A>TCA372344340DENND3c.2156A>T (p.Lys719Met)
c.1916A>T (p.Lys639Met)
c.1760A>T (p.Lys587Met)
c.1929A>T
n.1697A>T
c.1955A>T (p.Lys652Met)
c.1799A>T (p.Lys600Met)
c.1922A>T (p.Lys641Met)
c.1412A>T (p.Lys471Met)
c.1589A>T (p.Lys530Met)
c.1583A>T (p.Lys528Met)
c.1124A>T (p.Lys375Met)
c.653A>T (p.Lys218Met)
n.2085A>T
n.2252A>T
c.2000A>T (p.Lys667Met)
c.692A>T (p.Lys231Met)
n.2302A>T
n.2275A>T
8g.141168407G>ACA463496992DENND3c.2157G>A (p.Lys719=)
c.1917G>A (p.Lys639=)
c.1761G>A (p.Lys587=)
c.1930G>A
n.1698G>A
c.1956G>A (p.Lys652=)
c.1800G>A (p.Lys600=)
c.1923G>A (p.Lys641=)
c.1413G>A (p.Lys471=)
c.1590G>A (p.Lys530=)
c.1584G>A (p.Lys528=)
c.1125G>A (p.Lys375=)
c.654G>A (p.Lys218=)
n.2086G>A
n.2253G>A
c.2001G>A (p.Lys667=)
c.693G>A (p.Lys231=)
n.2303G>A
n.2276G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.141168407G>CCA372344341DENND3c.2157G>C (p.Lys719Asn)
c.1917G>C (p.Lys639Asn)
c.1761G>C (p.Lys587Asn)
c.1930G>C
n.1698G>C
c.1956G>C (p.Lys652Asn)
c.1800G>C (p.Lys600Asn)
c.1923G>C (p.Lys641Asn)
c.1413G>C (p.Lys471Asn)
c.1590G>C (p.Lys530Asn)
c.1584G>C (p.Lys528Asn)
c.1125G>C (p.Lys375Asn)
c.654G>C (p.Lys218Asn)
n.2086G>C
n.2253G>C
c.2001G>C (p.Lys667Asn)
c.693G>C (p.Lys231Asn)
n.2303G>C
n.2276G>C
8g.141168407G>TCA372344342DENND3c.2157G>T (p.Lys719Asn)
c.1917G>T (p.Lys639Asn)
c.1761G>T (p.Lys587Asn)
c.1930G>T
n.1698G>T
c.1956G>T (p.Lys652Asn)
c.1800G>T (p.Lys600Asn)
c.1923G>T (p.Lys641Asn)
c.1413G>T (p.Lys471Asn)
c.1590G>T (p.Lys530Asn)
c.1584G>T (p.Lys528Asn)
c.1125G>T (p.Lys375Asn)
c.654G>T (p.Lys218Asn)
n.2086G>T
n.2253G>T
c.2001G>T (p.Lys667Asn)
c.693G>T (p.Lys231Asn)
n.2303G>T
n.2276G>T
8g.141168408A>CCA372344343DENND3c.2158A>C (p.Lys720Gln)
c.1918A>C (p.Lys640Gln)
c.1762A>C (p.Lys588Gln)
c.1931A>C
n.1699A>C
c.1957A>C (p.Lys653Gln)
c.1801A>C (p.Lys601Gln)
c.1924A>C (p.Lys642Gln)
c.1414A>C (p.Lys472Gln)
c.1591A>C (p.Lys531Gln)
c.1585A>C (p.Lys529Gln)
c.1126A>C (p.Lys376Gln)
c.655A>C (p.Lys219Gln)
n.2087A>C
n.2254A>C
c.2002A>C (p.Lys668Gln)
c.694A>C (p.Lys232Gln)
n.2304A>C
n.2277A>C
8g.141168408A>GCA372344344DENND3c.2158A>G (p.Lys720Glu)
c.1918A>G (p.Lys640Glu)
c.1762A>G (p.Lys588Glu)
c.1931A>G
n.1699A>G
c.1957A>G (p.Lys653Glu)
c.1801A>G (p.Lys601Glu)
c.1924A>G (p.Lys642Glu)
c.1414A>G (p.Lys472Glu)
c.1591A>G (p.Lys531Glu)
c.1585A>G (p.Lys529Glu)
c.1126A>G (p.Lys376Glu)
c.655A>G (p.Lys219Glu)
n.2087A>G
n.2254A>G
c.2002A>G (p.Lys668Glu)
c.694A>G (p.Lys232Glu)
n.2304A>G
n.2277A>G
8g.141168408A>TCA372344345DENND3c.2158A>T (p.Lys720Ter)
c.1918A>T (p.Lys640Ter)
c.1762A>T (p.Lys588Ter)
c.1931A>T
n.1699A>T
c.1957A>T (p.Lys653Ter)
c.1801A>T (p.Lys601Ter)
c.1924A>T (p.Lys642Ter)
c.1414A>T (p.Lys472Ter)
c.1591A>T (p.Lys531Ter)
c.1585A>T (p.Lys529Ter)
c.1126A>T (p.Lys376Ter)
c.655A>T (p.Lys219Ter)
n.2087A>T
n.2254A>T
c.2002A>T (p.Lys668Ter)
c.694A>T (p.Lys232Ter)
n.2304A>T
n.2277A>T
8g.141168409A>CCA372344346DENND3c.2159A>C (p.Lys720Thr)
c.1919A>C (p.Lys640Thr)
c.1763A>C (p.Lys588Thr)
c.1932A>C
n.1700A>C
c.1958A>C (p.Lys653Thr)
c.1802A>C (p.Lys601Thr)
c.1925A>C (p.Lys642Thr)
c.1415A>C (p.Lys472Thr)
c.1592A>C (p.Lys531Thr)
c.1586A>C (p.Lys529Thr)
c.1127A>C (p.Lys376Thr)
c.656A>C (p.Lys219Thr)
n.2088A>C
n.2255A>C
c.2003A>C (p.Lys668Thr)
c.695A>C (p.Lys232Thr)
n.2305A>C
n.2278A>C
8g.141168409A>GCA372344347DENND3c.2159A>G (p.Lys720Arg)
c.1919A>G (p.Lys640Arg)
c.1763A>G (p.Lys588Arg)
c.1932A>G
n.1700A>G
c.1958A>G (p.Lys653Arg)
c.1802A>G (p.Lys601Arg)
c.1925A>G (p.Lys642Arg)
c.1415A>G (p.Lys472Arg)
c.1592A>G (p.Lys531Arg)
c.1586A>G (p.Lys529Arg)
c.1127A>G (p.Lys376Arg)
c.656A>G (p.Lys219Arg)
n.2088A>G
n.2255A>G
c.2003A>G (p.Lys668Arg)
c.695A>G (p.Lys232Arg)
n.2305A>G
n.2278A>G
8g.141168409A>TCA372344348DENND3c.2159A>T (p.Lys720Met)
c.1919A>T (p.Lys640Met)
c.1763A>T (p.Lys588Met)
c.1932A>T
n.1700A>T
c.1958A>T (p.Lys653Met)
c.1802A>T (p.Lys601Met)
c.1925A>T (p.Lys642Met)
c.1415A>T (p.Lys472Met)
c.1592A>T (p.Lys531Met)
c.1586A>T (p.Lys529Met)
c.1127A>T (p.Lys376Met)
c.656A>T (p.Lys219Met)
n.2088A>T
n.2255A>T
c.2003A>T (p.Lys668Met)
c.695A>T (p.Lys232Met)
n.2305A>T
n.2278A>T
8g.141168410delCA16044030DENND3c.2160del (p.Lys720AsnfsTer15)
c.1920del (p.Lys640AsnfsTer15)
c.1764del (p.Lys588AsnfsTer15)
c.1933del
n.1701del
c.1959del (p.Lys653AsnfsTer15)
c.1803del (p.Lys601AsnfsTer15)
c.1926del (p.Lys642AsnfsTer15)
c.1416del (p.Lys472AsnfsTer15)
c.1593del (p.Lys531AsnfsTer15)
c.1587del (p.Lys529AsnfsTer15)
c.1128del (p.Lys376AsnfsTer15)
c.657del (p.Lys219AsnfsTer15)
n.2089del
n.2256del
c.2004del (p.Lys668AsnfsTer15)
c.696del (p.Lys232AsnfsTer15)
n.2306del
n.2279del
 ClinVar dbSNP
8g.141168410G>ACA463496995DENND3c.2160G>A (p.Lys720=)
c.1920G>A (p.Lys640=)
c.1764G>A (p.Lys588=)
c.1933G>A
n.1701G>A
c.1959G>A (p.Lys653=)
c.1803G>A (p.Lys601=)
c.1926G>A (p.Lys642=)
c.1416G>A (p.Lys472=)
c.1593G>A (p.Lys531=)
c.1587G>A (p.Lys529=)
c.1128G>A (p.Lys376=)
c.657G>A (p.Lys219=)
n.2089G>A
n.2256G>A
c.2004G>A (p.Lys668=)
c.696G>A (p.Lys232=)
n.2306G>A
n.2279G>A
8g.141168410G>CCA372344349DENND3c.2160G>C (p.Lys720Asn)
c.1920G>C (p.Lys640Asn)
c.1764G>C (p.Lys588Asn)
c.1933G>C
n.1701G>C
c.1959G>C (p.Lys653Asn)
c.1803G>C (p.Lys601Asn)
c.1926G>C (p.Lys642Asn)
c.1416G>C (p.Lys472Asn)
c.1593G>C (p.Lys531Asn)
c.1587G>C (p.Lys529Asn)
c.1128G>C (p.Lys376Asn)
c.657G>C (p.Lys219Asn)
n.2089G>C
n.2256G>C
c.2004G>C (p.Lys668Asn)
c.696G>C (p.Lys232Asn)
n.2306G>C
n.2279G>C
 dbSNP
8g.141168410G>TCA372344350DENND3c.2160G>T (p.Lys720Asn)
c.1920G>T (p.Lys640Asn)
c.1764G>T (p.Lys588Asn)
c.1933G>T
n.1701G>T
c.1959G>T (p.Lys653Asn)
c.1803G>T (p.Lys601Asn)
c.1926G>T (p.Lys642Asn)
c.1416G>T (p.Lys472Asn)
c.1593G>T (p.Lys531Asn)
c.1587G>T (p.Lys529Asn)
c.1128G>T (p.Lys376Asn)
c.657G>T (p.Lys219Asn)
n.2089G>T
n.2256G>T
c.2004G>T (p.Lys668Asn)
c.696G>T (p.Lys232Asn)
n.2306G>T
n.2279G>T
8g.141168411T>ACA372344351DENND3c.2161T>A (p.Phe721Ile)
c.1921T>A (p.Phe641Ile)
c.1765T>A (p.Phe589Ile)
c.1934T>A
n.1702T>A
c.1960T>A (p.Phe654Ile)
c.1804T>A (p.Phe602Ile)
c.1927T>A (p.Phe643Ile)
c.1417T>A (p.Phe473Ile)
c.1594T>A (p.Phe532Ile)
c.1588T>A (p.Phe530Ile)
c.1129T>A (p.Phe377Ile)
c.658T>A (p.Phe220Ile)
n.2090T>A
n.2257T>A
c.2005T>A (p.Phe669Ile)
c.697T>A (p.Phe233Ile)
n.2307T>A
n.2280T>A
8g.141168411T>CCA372344352DENND3c.2161T>C (p.Phe721Leu)
c.1921T>C (p.Phe641Leu)
c.1765T>C (p.Phe589Leu)
c.1934T>C
n.1702T>C
c.1960T>C (p.Phe654Leu)
c.1804T>C (p.Phe602Leu)
c.1927T>C (p.Phe643Leu)
c.1417T>C (p.Phe473Leu)
c.1594T>C (p.Phe532Leu)
c.1588T>C (p.Phe530Leu)
c.1129T>C (p.Phe377Leu)
c.658T>C (p.Phe220Leu)
n.2090T>C
n.2257T>C
c.2005T>C (p.Phe669Leu)
c.697T>C (p.Phe233Leu)
n.2307T>C
n.2280T>C
8g.141168411T>GCA372344353DENND3c.2161T>G (p.Phe721Val)
c.1921T>G (p.Phe641Val)
c.1765T>G (p.Phe589Val)
c.1934T>G
n.1702T>G
c.1960T>G (p.Phe654Val)
c.1804T>G (p.Phe602Val)
c.1927T>G (p.Phe643Val)
c.1417T>G (p.Phe473Val)
c.1594T>G (p.Phe532Val)
c.1588T>G (p.Phe530Val)
c.1129T>G (p.Phe377Val)
c.658T>G (p.Phe220Val)
n.2090T>G
n.2257T>G
c.2005T>G (p.Phe669Val)
c.697T>G (p.Phe233Val)
n.2307T>G
n.2280T>G
8g.141168412delCA2695210339DENND3c.2162del (p.Phe721SerfsTer14)
c.1922del (p.Phe641SerfsTer14)
c.1766del (p.Phe589SerfsTer14)
c.1935del
n.1703del
c.1961del (p.Phe654SerfsTer14)
c.1805del (p.Phe602SerfsTer14)
c.1928del (p.Phe643SerfsTer14)
c.1418del (p.Phe473SerfsTer14)
c.1595del (p.Phe532SerfsTer14)
c.1589del (p.Phe530SerfsTer14)
c.1130del (p.Phe377SerfsTer14)
c.659del (p.Phe220SerfsTer14)
n.2091del
n.2258del
c.2006del (p.Phe669SerfsTer14)
c.698del (p.Phe233SerfsTer14)
n.2308del
n.2281del
8g.141168412T>ACA372344356DENND3c.2162T>A (p.Phe721Tyr)
c.1922T>A (p.Phe641Tyr)
c.1766T>A (p.Phe589Tyr)
c.1935T>A
n.1703T>A
c.1961T>A (p.Phe654Tyr)
c.1805T>A (p.Phe602Tyr)
c.1928T>A (p.Phe643Tyr)
c.1418T>A (p.Phe473Tyr)
c.1595T>A (p.Phe532Tyr)
c.1589T>A (p.Phe530Tyr)
c.1130T>A (p.Phe377Tyr)
c.659T>A (p.Phe220Tyr)
n.2091T>A
n.2258T>A
c.2006T>A (p.Phe669Tyr)
c.698T>A (p.Phe233Tyr)
n.2308T>A
n.2281T>A
8g.141168412T>CCA372344354DENND3c.2162T>C (p.Phe721Ser)
c.1922T>C (p.Phe641Ser)
c.1766T>C (p.Phe589Ser)
c.1935T>C
n.1703T>C
c.1961T>C (p.Phe654Ser)
c.1805T>C (p.Phe602Ser)
c.1928T>C (p.Phe643Ser)
c.1418T>C (p.Phe473Ser)
c.1595T>C (p.Phe532Ser)
c.1589T>C (p.Phe530Ser)
c.1130T>C (p.Phe377Ser)
c.659T>C (p.Phe220Ser)
n.2091T>C
n.2258T>C
c.2006T>C (p.Phe669Ser)
c.698T>C (p.Phe233Ser)
n.2308T>C
n.2281T>C
8g.141168412T>GCA372344355DENND3c.2162T>G (p.Phe721Cys)
c.1922T>G (p.Phe641Cys)
c.1766T>G (p.Phe589Cys)
c.1935T>G
n.1703T>G
c.1961T>G (p.Phe654Cys)
c.1805T>G (p.Phe602Cys)
c.1928T>G (p.Phe643Cys)
c.1418T>G (p.Phe473Cys)
c.1595T>G (p.Phe532Cys)
c.1589T>G (p.Phe530Cys)
c.1130T>G (p.Phe377Cys)
c.659T>G (p.Phe220Cys)
n.2091T>G
n.2258T>G
c.2006T>G (p.Phe669Cys)
c.698T>G (p.Phe233Cys)
n.2308T>G
n.2281T>G
8g.141168413C>ACA372344357DENND3c.2163C>A (p.Phe721Leu)
c.1923C>A (p.Phe641Leu)
c.1767C>A (p.Phe589Leu)
c.1936C>A
n.1704C>A
c.1962C>A (p.Phe654Leu)
c.1806C>A (p.Phe602Leu)
c.1929C>A (p.Phe643Leu)
c.1419C>A (p.Phe473Leu)
c.1596C>A (p.Phe532Leu)
c.1590C>A (p.Phe530Leu)
c.1131C>A (p.Phe377Leu)
c.660C>A (p.Phe220Leu)
n.2092C>A
n.2259C>A
c.2007C>A (p.Phe669Leu)
c.699C>A (p.Phe233Leu)
n.2309C>A
n.2282C>A
8g.141168413C>GCA372344358DENND3c.2163C>G (p.Phe721Leu)
c.1923C>G (p.Phe641Leu)
c.1767C>G (p.Phe589Leu)
c.1936C>G
n.1704C>G
c.1962C>G (p.Phe654Leu)
c.1806C>G (p.Phe602Leu)
c.1929C>G (p.Phe643Leu)
c.1419C>G (p.Phe473Leu)
c.1596C>G (p.Phe532Leu)
c.1590C>G (p.Phe530Leu)
c.1131C>G (p.Phe377Leu)
c.660C>G (p.Phe220Leu)
n.2092C>G
n.2259C>G
c.2007C>G (p.Phe669Leu)
c.699C>G (p.Phe233Leu)
n.2309C>G
n.2282C>G
 dbSNP gnomAD v2 gnomAD v4
8g.141168413C>TCA463496997DENND3c.2163C>T (p.Phe721=)
c.1923C>T (p.Phe641=)
c.1767C>T (p.Phe589=)
c.1936C>T
n.1704C>T
c.1962C>T (p.Phe654=)
c.1806C>T (p.Phe602=)
c.1929C>T (p.Phe643=)
c.1419C>T (p.Phe473=)
c.1596C>T (p.Phe532=)
c.1590C>T (p.Phe530=)
c.1131C>T (p.Phe377=)
c.660C>T (p.Phe220=)
n.2092C>T
n.2259C>T
c.2007C>T (p.Phe669=)
c.699C>T (p.Phe233=)
n.2309C>T
n.2282C>T
8g.141168414A>CCA372344359DENND3c.2164A>C (p.Lys722Gln)
c.1924A>C (p.Lys642Gln)
c.1768A>C (p.Lys590Gln)
c.1937A>C
n.1705A>C
c.1963A>C (p.Lys655Gln)
c.1807A>C (p.Lys603Gln)
c.1930A>C (p.Lys644Gln)
c.1420A>C (p.Lys474Gln)
c.1597A>C (p.Lys533Gln)
c.1591A>C (p.Lys531Gln)
c.1132A>C (p.Lys378Gln)
c.661A>C (p.Lys221Gln)
n.2093A>C
n.2260A>C
c.2008A>C (p.Lys670Gln)
c.700A>C (p.Lys234Gln)
n.2310A>C
n.2283A>C
8g.141168414A>GCA4896818DENND3c.2164A>G (p.Lys722Glu)
c.1924A>G (p.Lys642Glu)
c.1768A>G (p.Lys590Glu)
c.1937A>G
n.1705A>G
c.1963A>G (p.Lys655Glu)
c.1807A>G (p.Lys603Glu)
c.1930A>G (p.Lys644Glu)
c.1420A>G (p.Lys474Glu)
c.1597A>G (p.Lys533Glu)
c.1591A>G (p.Lys531Glu)
c.1132A>G (p.Lys378Glu)
c.661A>G (p.Lys221Glu)
n.2093A>G
n.2260A>G
c.2008A>G (p.Lys670Glu)
c.700A>G (p.Lys234Glu)
n.2310A>G
n.2283A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.141168414A>TCA372344360DENND3c.2164A>T (p.Lys722Ter)
c.1924A>T (p.Lys642Ter)
c.1768A>T (p.Lys590Ter)
c.1937A>T
n.1705A>T
c.1963A>T (p.Lys655Ter)
c.1807A>T (p.Lys603Ter)
c.1930A>T (p.Lys644Ter)
c.1420A>T (p.Lys474Ter)
c.1597A>T (p.Lys533Ter)
c.1591A>T (p.Lys531Ter)
c.1132A>T (p.Lys378Ter)
c.661A>T (p.Lys221Ter)
n.2093A>T
n.2260A>T
c.2008A>T (p.Lys670Ter)
c.700A>T (p.Lys234Ter)
n.2310A>T
n.2283A>T
8g.141168415A>CCA372344361DENND3c.2165A>C (p.Lys722Thr)
c.1925A>C (p.Lys642Thr)
c.1769A>C (p.Lys590Thr)
c.1938A>C
n.1706A>C
c.1964A>C (p.Lys655Thr)
c.1808A>C (p.Lys603Thr)
c.1931A>C (p.Lys644Thr)
c.1421A>C (p.Lys474Thr)
c.1598A>C (p.Lys533Thr)
c.1592A>C (p.Lys531Thr)
c.1133A>C (p.Lys378Thr)
c.662A>C (p.Lys221Thr)
n.2094A>C
n.2261A>C
c.2009A>C (p.Lys670Thr)
c.701A>C (p.Lys234Thr)
n.2311A>C
n.2284A>C
8g.141168415A>GCA372344362DENND3c.2165A>G (p.Lys722Arg)
c.1925A>G (p.Lys642Arg)
c.1769A>G (p.Lys590Arg)
c.1938A>G
n.1706A>G
c.1964A>G (p.Lys655Arg)
c.1808A>G (p.Lys603Arg)
c.1931A>G (p.Lys644Arg)
c.1421A>G (p.Lys474Arg)
c.1598A>G (p.Lys533Arg)
c.1592A>G (p.Lys531Arg)
c.1133A>G (p.Lys378Arg)
c.662A>G (p.Lys221Arg)
n.2094A>G
n.2261A>G
c.2009A>G (p.Lys670Arg)
c.701A>G (p.Lys234Arg)
n.2311A>G
n.2284A>G
 gnomAD v4
8g.141168415A>TCA372344363DENND3c.2165A>T (p.Lys722Met)
c.1925A>T (p.Lys642Met)
c.1769A>T (p.Lys590Met)
c.1938A>T
n.1706A>T
c.1964A>T (p.Lys655Met)
c.1808A>T (p.Lys603Met)
c.1931A>T (p.Lys644Met)
c.1421A>T (p.Lys474Met)
c.1598A>T (p.Lys533Met)
c.1592A>T (p.Lys531Met)
c.1133A>T (p.Lys378Met)
c.662A>T (p.Lys221Met)
n.2094A>T
n.2261A>T
c.2009A>T (p.Lys670Met)
c.701A>T (p.Lys234Met)
n.2311A>T
n.2284A>T
8g.141168416G>ACA463496999DENND3c.2166G>A (p.Lys722=)
c.1926G>A (p.Lys642=)
c.1770G>A (p.Lys590=)
c.1939G>A
n.1707G>A
c.1965G>A (p.Lys655=)
c.1809G>A (p.Lys603=)
c.1932G>A (p.Lys644=)
c.1422G>A (p.Lys474=)
c.1599G>A (p.Lys533=)
c.1593G>A (p.Lys531=)
c.1134G>A (p.Lys378=)
c.663G>A (p.Lys221=)
n.2095G>A
n.2262G>A
c.2010G>A (p.Lys670=)
c.702G>A (p.Lys234=)
n.2312G>A
n.2285G>A
8g.141168416G>CCA372344364DENND3c.2166G>C (p.Lys722Asn)
c.1926G>C (p.Lys642Asn)
c.1770G>C (p.Lys590Asn)
c.1939G>C
n.1707G>C
c.1965G>C (p.Lys655Asn)
c.1809G>C (p.Lys603Asn)
c.1932G>C (p.Lys644Asn)
c.1422G>C (p.Lys474Asn)
c.1599G>C (p.Lys533Asn)
c.1593G>C (p.Lys531Asn)
c.1134G>C (p.Lys378Asn)
c.663G>C (p.Lys221Asn)
n.2095G>C
n.2262G>C
c.2010G>C (p.Lys670Asn)
c.702G>C (p.Lys234Asn)
n.2312G>C
n.2285G>C
8g.141168416G>TCA372344365DENND3c.2166G>T (p.Lys722Asn)
c.1926G>T (p.Lys642Asn)
c.1770G>T (p.Lys590Asn)
c.1939G>T
n.1707G>T
c.1965G>T (p.Lys655Asn)
c.1809G>T (p.Lys603Asn)
c.1932G>T (p.Lys644Asn)
c.1422G>T (p.Lys474Asn)
c.1599G>T (p.Lys533Asn)
c.1593G>T (p.Lys531Asn)
c.1134G>T (p.Lys378Asn)
c.663G>T (p.Lys221Asn)
n.2095G>T
n.2262G>T
c.2010G>T (p.Lys670Asn)
c.702G>T (p.Lys234Asn)
n.2312G>T
n.2285G>T
8g.141168417C>ACA372344366DENND3c.2167C>A (p.Leu723Met)
c.1927C>A (p.Leu643Met)
c.1771C>A (p.Leu591Met)
c.1940C>A
n.1708C>A
c.1966C>A (p.Leu656Met)
c.1810C>A (p.Leu604Met)
c.1933C>A (p.Leu645Met)
c.1423C>A (p.Leu475Met)
c.1600C>A (p.Leu534Met)
c.1594C>A (p.Leu532Met)
c.1135C>A (p.Leu379Met)
c.664C>A (p.Leu222Met)
n.2096C>A
n.2263C>A
c.2011C>A (p.Leu671Met)
c.703C>A (p.Leu235Met)
n.2313C>A
n.2286C>A
 gnomAD v4
8g.141168417C>GCA4896819DENND3c.2167C>G (p.Leu723Val)
c.1927C>G (p.Leu643Val)
c.1771C>G (p.Leu591Val)
c.1940C>G
n.1708C>G
c.1966C>G (p.Leu656Val)
c.1810C>G (p.Leu604Val)
c.1933C>G (p.Leu645Val)
c.1423C>G (p.Leu475Val)
c.1600C>G (p.Leu534Val)
c.1594C>G (p.Leu532Val)
c.1135C>G (p.Leu379Val)
c.664C>G (p.Leu222Val)
n.2096C>G
n.2263C>G
c.2011C>G (p.Leu671Val)
c.703C>G (p.Leu235Val)
n.2313C>G
n.2286C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.141168417C>TCA463497000DENND3c.2167C>T (p.Leu723=)
c.1927C>T (p.Leu643=)
c.1771C>T (p.Leu591=)
c.1940C>T
n.1708C>T
c.1966C>T (p.Leu656=)
c.1810C>T (p.Leu604=)
c.1933C>T (p.Leu645=)
c.1423C>T (p.Leu475=)
c.1600C>T (p.Leu534=)
c.1594C>T (p.Leu532=)
c.1135C>T (p.Leu379=)
c.664C>T (p.Leu222=)
n.2096C>T
n.2263C>T
c.2011C>T (p.Leu671=)
c.703C>T (p.Leu235=)
n.2313C>T
n.2286C>T
8g.141168418T>ACA372344368DENND3c.2168T>A (p.Leu723Gln)
c.1928T>A (p.Leu643Gln)
c.1772T>A (p.Leu591Gln)
c.1941T>A
n.1709T>A
c.1967T>A (p.Leu656Gln)
c.1811T>A (p.Leu604Gln)
c.1934T>A (p.Leu645Gln)
c.1424T>A (p.Leu475Gln)
c.1601T>A (p.Leu534Gln)
c.1595T>A (p.Leu532Gln)
c.1136T>A (p.Leu379Gln)
c.665T>A (p.Leu222Gln)
n.2097T>A
n.2264T>A
c.2012T>A (p.Leu671Gln)
c.704T>A (p.Leu235Gln)
n.2314T>A
n.2287T>A
8g.141168418T>CCA372344369DENND3c.2168T>C (p.Leu723Pro)
c.1928T>C (p.Leu643Pro)
c.1772T>C (p.Leu591Pro)
c.1941T>C
n.1709T>C
c.1967T>C (p.Leu656Pro)
c.1811T>C (p.Leu604Pro)
c.1934T>C (p.Leu645Pro)
c.1424T>C (p.Leu475Pro)
c.1601T>C (p.Leu534Pro)
c.1595T>C (p.Leu532Pro)
c.1136T>C (p.Leu379Pro)
c.665T>C (p.Leu222Pro)
n.2097T>C
n.2264T>C
c.2012T>C (p.Leu671Pro)
c.704T>C (p.Leu235Pro)
n.2314T>C
n.2287T>C
8g.141168418T>GCA372344367DENND3c.2168T>G (p.Leu723Arg)
c.1928T>G (p.Leu643Arg)
c.1772T>G (p.Leu591Arg)
c.1941T>G
n.1709T>G
c.1967T>G (p.Leu656Arg)
c.1811T>G (p.Leu604Arg)
c.1934T>G (p.Leu645Arg)
c.1424T>G (p.Leu475Arg)
c.1601T>G (p.Leu534Arg)
c.1595T>G (p.Leu532Arg)
c.1136T>G (p.Leu379Arg)
c.665T>G (p.Leu222Arg)
n.2097T>G
n.2264T>G
c.2012T>G (p.Leu671Arg)
c.704T>G (p.Leu235Arg)
n.2314T>G
n.2287T>G
8g.141168419G>ACA463497005DENND3c.2169G>A (p.Leu723=)
c.1929G>A (p.Leu643=)
c.1773G>A (p.Leu591=)
c.1942G>A
n.1710G>A
c.1968G>A (p.Leu656=)
c.1812G>A (p.Leu604=)
c.1935G>A (p.Leu645=)
c.1425G>A (p.Leu475=)
c.1602G>A (p.Leu534=)
c.1596G>A (p.Leu532=)
c.1137G>A (p.Leu379=)
c.666G>A (p.Leu222=)
n.2098G>A
n.2265G>A
c.2013G>A (p.Leu671=)
c.705G>A (p.Leu235=)
n.2315G>A
n.2288G>A
 COSMIC
8g.141168419G>CCA463497003DENND3c.2169G>C (p.Leu723=)
c.1929G>C (p.Leu643=)
c.1773G>C (p.Leu591=)
c.1942G>C
n.1710G>C
c.1968G>C (p.Leu656=)
c.1812G>C (p.Leu604=)
c.1935G>C (p.Leu645=)
c.1425G>C (p.Leu475=)
c.1602G>C (p.Leu534=)
c.1596G>C (p.Leu532=)
c.1137G>C (p.Leu379=)
c.666G>C (p.Leu222=)
n.2098G>C
n.2265G>C
c.2013G>C (p.Leu671=)
c.705G>C (p.Leu235=)
n.2315G>C
n.2288G>C
 gnomAD v4
8g.141168419G>TCA463497001DENND3c.2169G>T (p.Leu723=)
c.1929G>T (p.Leu643=)
c.1773G>T (p.Leu591=)
c.1942G>T
n.1710G>T
c.1968G>T (p.Leu656=)
c.1812G>T (p.Leu604=)
c.1935G>T (p.Leu645=)
c.1425G>T (p.Leu475=)
c.1602G>T (p.Leu534=)
c.1596G>T (p.Leu532=)
c.1137G>T (p.Leu379=)
c.666G>T (p.Leu222=)
n.2098G>T
n.2265G>T
c.2013G>T (p.Leu671=)
c.705G>T (p.Leu235=)
n.2315G>T
n.2288G>T
8g.141168420C>ACA372344371DENND3c.2170C>A (p.Pro724Thr)
c.1930C>A (p.Pro644Thr)
c.1774C>A (p.Pro592Thr)
c.1943C>A
n.1711C>A
c.1969C>A (p.Pro657Thr)
c.1813C>A (p.Pro605Thr)
c.1936C>A (p.Pro646Thr)
c.1426C>A (p.Pro476Thr)
c.1603C>A (p.Pro535Thr)
c.1597C>A (p.Pro533Thr)
c.1138C>A (p.Pro380Thr)
c.667C>A (p.Pro223Thr)
n.2099C>A
n.2266C>A
c.2014C>A (p.Pro672Thr)
c.706C>A (p.Pro236Thr)
n.2316C>A
n.2289C>A
8g.141168420C>GCA372344370DENND3c.2170C>G (p.Pro724Ala)
c.1930C>G (p.Pro644Ala)
c.1774C>G (p.Pro592Ala)
c.1943C>G
n.1711C>G
c.1969C>G (p.Pro657Ala)
c.1813C>G (p.Pro605Ala)
c.1936C>G (p.Pro646Ala)
c.1426C>G (p.Pro476Ala)
c.1603C>G (p.Pro535Ala)
c.1597C>G (p.Pro533Ala)
c.1138C>G (p.Pro380Ala)
c.667C>G (p.Pro223Ala)
n.2099C>G
n.2266C>G
c.2014C>G (p.Pro672Ala)
c.706C>G (p.Pro236Ala)
n.2316C>G
n.2289C>G
8g.141168420C>TCA372344372DENND3c.2170C>T (p.Pro724Ser)
c.1930C>T (p.Pro644Ser)
c.1774C>T (p.Pro592Ser)
c.1943C>T
n.1711C>T
c.1969C>T (p.Pro657Ser)
c.1813C>T (p.Pro605Ser)
c.1936C>T (p.Pro646Ser)
c.1426C>T (p.Pro476Ser)
c.1603C>T (p.Pro535Ser)
c.1597C>T (p.Pro533Ser)
c.1138C>T (p.Pro380Ser)
c.667C>T (p.Pro223Ser)
n.2099C>T
n.2266C>T
c.2014C>T (p.Pro672Ser)
c.706C>T (p.Pro236Ser)
n.2316C>T
n.2289C>T
 gnomAD v4
8g.141168421C>ACA372344373DENND3c.2171C>A (p.Pro724His)
c.1931C>A (p.Pro644His)
c.1775C>A (p.Pro592His)
c.1944C>A
n.1712C>A
c.1970C>A (p.Pro657His)
c.1814C>A (p.Pro605His)
c.1937C>A (p.Pro646His)
c.1427C>A (p.Pro476His)
c.1604C>A (p.Pro535His)
c.1598C>A (p.Pro533His)
c.1139C>A (p.Pro380His)
c.668C>A (p.Pro223His)
n.2100C>A
n.2267C>A
c.2015C>A (p.Pro672His)
c.707C>A (p.Pro236His)
n.2317C>A
n.2290C>A
8g.141168421C>GCA372344374DENND3c.2171C>G (p.Pro724Arg)
c.1931C>G (p.Pro644Arg)
c.1775C>G (p.Pro592Arg)
c.1944C>G
n.1712C>G
c.1970C>G (p.Pro657Arg)
c.1814C>G (p.Pro605Arg)
c.1937C>G (p.Pro646Arg)
c.1427C>G (p.Pro476Arg)
c.1604C>G (p.Pro535Arg)
c.1598C>G (p.Pro533Arg)
c.1139C>G (p.Pro380Arg)
c.668C>G (p.Pro223Arg)
n.2100C>G
n.2267C>G
c.2015C>G (p.Pro672Arg)
c.707C>G (p.Pro236Arg)
n.2317C>G
n.2290C>G
8g.141168421C>TCA372344375DENND3c.2171C>T (p.Pro724Leu)
c.1931C>T (p.Pro644Leu)
c.1775C>T (p.Pro592Leu)
c.1944C>T
n.1712C>T
c.1970C>T (p.Pro657Leu)
c.1814C>T (p.Pro605Leu)
c.1937C>T (p.Pro646Leu)
c.1427C>T (p.Pro476Leu)
c.1604C>T (p.Pro535Leu)
c.1598C>T (p.Pro533Leu)
c.1139C>T (p.Pro380Leu)
c.668C>T (p.Pro223Leu)
n.2100C>T
n.2267C>T
c.2015C>T (p.Pro672Leu)
c.707C>T (p.Pro236Leu)
n.2317C>T
n.2290C>T
8g.141168422C>ACA463497006DENND3c.2172C>A (p.Pro724=)
c.1932C>A (p.Pro644=)
c.1776C>A (p.Pro592=)
c.1945C>A
n.1713C>A
c.1971C>A (p.Pro657=)
c.1815C>A (p.Pro605=)
c.1938C>A (p.Pro646=)
c.1428C>A (p.Pro476=)
c.1605C>A (p.Pro535=)
c.1599C>A (p.Pro533=)
c.1140C>A (p.Pro380=)
c.669C>A (p.Pro223=)
n.2101C>A
n.2268C>A
c.2016C>A (p.Pro672=)
c.708C>A (p.Pro236=)
n.2318C>A
n.2291C>A
8g.141168422C>GCA463497007DENND3c.2172C>G (p.Pro724=)
c.1932C>G (p.Pro644=)
c.1776C>G (p.Pro592=)
c.1945C>G
n.1713C>G
c.1971C>G (p.Pro657=)
c.1815C>G (p.Pro605=)
c.1938C>G (p.Pro646=)
c.1428C>G (p.Pro476=)
c.1605C>G (p.Pro535=)
c.1599C>G (p.Pro533=)
c.1140C>G (p.Pro380=)
c.669C>G (p.Pro223=)
n.2101C>G
n.2268C>G
c.2016C>G (p.Pro672=)
c.708C>G (p.Pro236=)
n.2318C>G
n.2291C>G
 dbSNP gnomAD v2 gnomAD v4
8g.141168422C>TCA463497008DENND3c.2172C>T (p.Pro724=)
c.1932C>T (p.Pro644=)
c.1776C>T (p.Pro592=)
c.1945C>T
n.1713C>T
c.1971C>T (p.Pro657=)
c.1815C>T (p.Pro605=)
c.1938C>T (p.Pro646=)
c.1428C>T (p.Pro476=)
c.1605C>T (p.Pro535=)
c.1599C>T (p.Pro533=)
c.1140C>T (p.Pro380=)
c.669C>T (p.Pro223=)
n.2101C>T
n.2268C>T
c.2016C>T (p.Pro672=)
c.708C>T (p.Pro236=)
n.2318C>T
n.2291C>T
8g.141168423A>CCA372344376DENND3c.2173A>C (p.Lys725Gln)
c.1933A>C (p.Lys645Gln)
c.1777A>C (p.Lys593Gln)
c.1946A>C
n.1714A>C
c.1972A>C (p.Lys658Gln)
c.1816A>C (p.Lys606Gln)
c.1939A>C (p.Lys647Gln)
c.1429A>C (p.Lys477Gln)
c.1606A>C (p.Lys536Gln)
c.1600A>C (p.Lys534Gln)
c.1141A>C (p.Lys381Gln)
c.670A>C (p.Lys224Gln)
n.2102A>C
n.2269A>C
c.2017A>C (p.Lys673Gln)
c.709A>C (p.Lys237Gln)
n.2319A>C
n.2292A>C
 gnomAD v4
8g.141168423A>GCA372344377DENND3c.2173A>G (p.Lys725Glu)
c.1933A>G (p.Lys645Glu)
c.1777A>G (p.Lys593Glu)
c.1946A>G
n.1714A>G
c.1972A>G (p.Lys658Glu)
c.1816A>G (p.Lys606Glu)
c.1939A>G (p.Lys647Glu)
c.1429A>G (p.Lys477Glu)
c.1606A>G (p.Lys536Glu)
c.1600A>G (p.Lys534Glu)
c.1141A>G (p.Lys381Glu)
c.670A>G (p.Lys224Glu)
n.2102A>G
n.2269A>G
c.2017A>G (p.Lys673Glu)
c.709A>G (p.Lys237Glu)
n.2319A>G
n.2292A>G
 dbSNP
8g.141168423A>TCA372344378DENND3c.2173A>T (p.Lys725Ter)
c.1933A>T (p.Lys645Ter)
c.1777A>T (p.Lys593Ter)
c.1946A>T
n.1714A>T
c.1972A>T (p.Lys658Ter)
c.1816A>T (p.Lys606Ter)
c.1939A>T (p.Lys647Ter)
c.1429A>T (p.Lys477Ter)
c.1606A>T (p.Lys536Ter)
c.1600A>T (p.Lys534Ter)
c.1141A>T (p.Lys381Ter)
c.670A>T (p.Lys224Ter)
n.2102A>T
n.2269A>T
c.2017A>T (p.Lys673Ter)
c.709A>T (p.Lys237Ter)
n.2319A>T
n.2292A>T
8g.141168426_141168428delCA2688780432DENND3c.2176_2178del (p.Lys726del)
c.1936_1938del (p.Lys646del)
c.1780_1782del (p.Lys594del)
c.1949_1951del
n.1717_1719del
c.1975_1977del (p.Lys659del)
c.1819_1821del (p.Lys607del)
c.1942_1944del (p.Lys648del)
c.1432_1434del (p.Lys478del)
c.1609_1611del (p.Lys537del)
c.1603_1605del (p.Lys535del)
c.1144_1146del (p.Lys382del)
c.673_675del (p.Lys225del)
n.2105_2107del
n.2272_2274del
c.2020_2022del (p.Lys674del)
c.712_714del (p.Lys238del)
n.2322_2324del
n.2295_2297del
 gnomAD v4
8g.141168424A>CCA372344379DENND3c.2174A>C (p.Lys725Thr)
c.1934A>C (p.Lys645Thr)
c.1778A>C (p.Lys593Thr)
c.1947A>C
n.1715A>C
c.1973A>C (p.Lys658Thr)
c.1817A>C (p.Lys606Thr)
c.1940A>C (p.Lys647Thr)
c.1430A>C (p.Lys477Thr)
c.1607A>C (p.Lys536Thr)
c.1601A>C (p.Lys534Thr)
c.1142A>C (p.Lys381Thr)
c.671A>C (p.Lys224Thr)
n.2103A>C
n.2270A>C
c.2018A>C (p.Lys673Thr)
c.710A>C (p.Lys237Thr)
n.2320A>C
n.2293A>C
8g.141168424A>GCA372344380DENND3c.2174A>G (p.Lys725Arg)
c.1934A>G (p.Lys645Arg)
c.1778A>G (p.Lys593Arg)
c.1947A>G
n.1715A>G
c.1973A>G (p.Lys658Arg)
c.1817A>G (p.Lys606Arg)
c.1940A>G (p.Lys647Arg)
c.1430A>G (p.Lys477Arg)
c.1607A>G (p.Lys536Arg)
c.1601A>G (p.Lys534Arg)
c.1142A>G (p.Lys381Arg)
c.671A>G (p.Lys224Arg)
n.2103A>G
n.2270A>G
c.2018A>G (p.Lys673Arg)
c.710A>G (p.Lys237Arg)
n.2320A>G
n.2293A>G
 dbSNP gnomAD v4
8g.141168424A>TCA372344381DENND3c.2174A>T (p.Lys725Met)
c.1934A>T (p.Lys645Met)
c.1778A>T (p.Lys593Met)
c.1947A>T
n.1715A>T
c.1973A>T (p.Lys658Met)
c.1817A>T (p.Lys606Met)
c.1940A>T (p.Lys647Met)
c.1430A>T (p.Lys477Met)
c.1607A>T (p.Lys536Met)
c.1601A>T (p.Lys534Met)
c.1142A>T (p.Lys381Met)
c.671A>T (p.Lys224Met)
n.2103A>T
n.2270A>T
c.2018A>T (p.Lys673Met)
c.710A>T (p.Lys237Met)
n.2320A>T
n.2293A>T
8g.141168425delCA848517121DENND3c.2175del (p.Lys726SerfsTer9)
c.1935del (p.Lys646SerfsTer9)
c.1779del (p.Lys594SerfsTer9)
c.1948del
n.1716del
c.1974del (p.Lys659SerfsTer9)
c.1818del (p.Lys607SerfsTer9)
c.1941del (p.Lys648SerfsTer9)
c.1431del (p.Lys478SerfsTer9)
c.1608del (p.Lys537SerfsTer9)
c.1602del (p.Lys535SerfsTer9)
c.1143del (p.Lys382SerfsTer9)
c.672del (p.Lys225SerfsTer9)
n.2104del
n.2271del
c.2019del (p.Lys674SerfsTer9)
c.711del (p.Lys238SerfsTer9)
n.2321del
n.2294del
 dbSNP gnomAD v3 gnomAD v4
8g.141168425G>ACA4896820DENND3c.2175G>A (p.Lys725=)
c.1935G>A (p.Lys645=)
c.1779G>A (p.Lys593=)
c.1948G>A
n.1716G>A
c.1974G>A (p.Lys658=)
c.1818G>A (p.Lys606=)
c.1941G>A (p.Lys647=)
c.1431G>A (p.Lys477=)
c.1608G>A (p.Lys536=)
c.1602G>A (p.Lys534=)
c.1143G>A (p.Lys381=)
c.672G>A (p.Lys224=)
n.2104G>A
n.2271G>A
c.2019G>A (p.Lys673=)
c.711G>A (p.Lys237=)
n.2321G>A
n.2294G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.141168425G>CCA372344382DENND3c.2175G>C (p.Lys725Asn)
c.1935G>C (p.Lys645Asn)
c.1779G>C (p.Lys593Asn)
c.1948G>C
n.1716G>C
c.1974G>C (p.Lys658Asn)
c.1818G>C (p.Lys606Asn)
c.1941G>C (p.Lys647Asn)
c.1431G>C (p.Lys477Asn)
c.1608G>C (p.Lys536Asn)
c.1602G>C (p.Lys534Asn)
c.1143G>C (p.Lys381Asn)
c.672G>C (p.Lys224Asn)
n.2104G>C
n.2271G>C
c.2019G>C (p.Lys673Asn)
c.711G>C (p.Lys237Asn)
n.2321G>C
n.2294G>C
8g.141168425G>TCA372344383DENND3c.2175G>T (p.Lys725Asn)
c.1935G>T (p.Lys645Asn)
c.1779G>T (p.Lys593Asn)
c.1948G>T
n.1716G>T
c.1974G>T (p.Lys658Asn)
c.1818G>T (p.Lys606Asn)
c.1941G>T (p.Lys647Asn)
c.1431G>T (p.Lys477Asn)
c.1608G>T (p.Lys536Asn)
c.1602G>T (p.Lys534Asn)
c.1143G>T (p.Lys381Asn)
c.672G>T (p.Lys224Asn)
n.2104G>T
n.2271G>T
c.2019G>T (p.Lys673Asn)
c.711G>T (p.Lys237Asn)
n.2321G>T
n.2294G>T
8g.141168426A>CCA372344386DENND3c.2176A>C (p.Lys726Gln)
c.1936A>C (p.Lys646Gln)
c.1780A>C (p.Lys594Gln)
c.1949A>C
n.1717A>C
c.1975A>C (p.Lys659Gln)
c.1819A>C (p.Lys607Gln)
c.1942A>C (p.Lys648Gln)
c.1432A>C (p.Lys478Gln)
c.1609A>C (p.Lys537Gln)
c.1603A>C (p.Lys535Gln)
c.1144A>C (p.Lys382Gln)
c.673A>C (p.Lys225Gln)
n.2105A>C
n.2272A>C
c.2020A>C (p.Lys674Gln)
c.712A>C (p.Lys238Gln)
n.2322A>C
n.2295A>C
 gnomAD v4
8g.141168426A>GCA372344384DENND3c.2176A>G (p.Lys726Glu)
c.1936A>G (p.Lys646Glu)
c.1780A>G (p.Lys594Glu)
c.1949A>G
n.1717A>G
c.1975A>G (p.Lys659Glu)
c.1819A>G (p.Lys607Glu)
c.1942A>G (p.Lys648Glu)
c.1432A>G (p.Lys478Glu)
c.1609A>G (p.Lys537Glu)
c.1603A>G (p.Lys535Glu)
c.1144A>G (p.Lys382Glu)
c.673A>G (p.Lys225Glu)
n.2105A>G
n.2272A>G
c.2020A>G (p.Lys674Glu)
c.712A>G (p.Lys238Glu)
n.2322A>G
n.2295A>G
8g.141168426A>TCA372344385DENND3c.2176A>T (p.Lys726Ter)
c.1936A>T (p.Lys646Ter)
c.1780A>T (p.Lys594Ter)
c.1949A>T
n.1717A>T
c.1975A>T (p.Lys659Ter)
c.1819A>T (p.Lys607Ter)
c.1942A>T (p.Lys648Ter)
c.1432A>T (p.Lys478Ter)
c.1609A>T (p.Lys537Ter)
c.1603A>T (p.Lys535Ter)
c.1144A>T (p.Lys382Ter)
c.673A>T (p.Lys225Ter)
n.2105A>T
n.2272A>T
c.2020A>T (p.Lys674Ter)
c.712A>T (p.Lys238Ter)
n.2322A>T
n.2295A>T
8g.141168427A>CCA372344387DENND3c.2177A>C (p.Lys726Thr)
c.1937A>C (p.Lys646Thr)
c.1781A>C (p.Lys594Thr)
c.1950A>C
n.1718A>C
c.1976A>C (p.Lys659Thr)
c.1820A>C (p.Lys607Thr)
c.1943A>C (p.Lys648Thr)
c.1433A>C (p.Lys478Thr)
c.1610A>C (p.Lys537Thr)
c.1604A>C (p.Lys535Thr)
c.1145A>C (p.Lys382Thr)
c.674A>C (p.Lys225Thr)
n.2106A>C
n.2273A>C
c.2021A>C (p.Lys674Thr)
c.713A>C (p.Lys238Thr)
n.2323A>C
n.2296A>C
8g.141168427A>GCA372344388DENND3c.2177A>G (p.Lys726Arg)
c.1937A>G (p.Lys646Arg)
c.1781A>G (p.Lys594Arg)
c.1950A>G
n.1718A>G
c.1976A>G (p.Lys659Arg)
c.1820A>G (p.Lys607Arg)
c.1943A>G (p.Lys648Arg)
c.1433A>G (p.Lys478Arg)
c.1610A>G (p.Lys537Arg)
c.1604A>G (p.Lys535Arg)
c.1145A>G (p.Lys382Arg)
c.674A>G (p.Lys225Arg)
n.2106A>G
n.2273A>G
c.2021A>G (p.Lys674Arg)
c.713A>G (p.Lys238Arg)
n.2323A>G
n.2296A>G
 gnomAD v4
8g.141168427A>TCA372344389DENND3c.2177A>T (p.Lys726Met)
c.1937A>T (p.Lys646Met)
c.1781A>T (p.Lys594Met)
c.1950A>T
n.1718A>T
c.1976A>T (p.Lys659Met)
c.1820A>T (p.Lys607Met)
c.1943A>T (p.Lys648Met)
c.1433A>T (p.Lys478Met)
c.1610A>T (p.Lys537Met)
c.1604A>T (p.Lys535Met)
c.1145A>T (p.Lys382Met)
c.674A>T (p.Lys225Met)
n.2106A>T
n.2273A>T
c.2021A>T (p.Lys674Met)
c.713A>T (p.Lys238Met)
n.2323A>T
n.2296A>T
8g.141168428G>ACA4896821DENND3c.2178G>A (p.Lys726=)
c.1938G>A (p.Lys646=)
c.1782G>A (p.Lys594=)
c.1951G>A
n.1719G>A
c.1977G>A (p.Lys659=)
c.1821G>A (p.Lys607=)
c.1944G>A (p.Lys648=)
c.1434G>A (p.Lys478=)
c.1611G>A (p.Lys537=)
c.1605G>A (p.Lys535=)
c.1146G>A (p.Lys382=)
c.675G>A (p.Lys225=)
n.2107G>A
n.2274G>A
c.2022G>A (p.Lys674=)
c.714G>A (p.Lys238=)
n.2324G>A
n.2297G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.141168428G>CCA372344390DENND3c.2178G>C (p.Lys726Asn)
c.1938G>C (p.Lys646Asn)
c.1782G>C (p.Lys594Asn)
c.1951G>C
n.1719G>C
c.1977G>C (p.Lys659Asn)
c.1821G>C (p.Lys607Asn)
c.1944G>C (p.Lys648Asn)
c.1434G>C (p.Lys478Asn)
c.1611G>C (p.Lys537Asn)
c.1605G>C (p.Lys535Asn)
c.1146G>C (p.Lys382Asn)
c.675G>C (p.Lys225Asn)
n.2107G>C
n.2274G>C
c.2022G>C (p.Lys674Asn)
c.714G>C (p.Lys238Asn)
n.2324G>C
n.2297G>C
8g.141168428G>TCA372344391DENND3c.2178G>T (p.Lys726Asn)
c.1938G>T (p.Lys646Asn)
c.1782G>T (p.Lys594Asn)
c.1951G>T
n.1719G>T
c.1977G>T (p.Lys659Asn)
c.1821G>T (p.Lys607Asn)
c.1944G>T (p.Lys648Asn)
c.1434G>T (p.Lys478Asn)
c.1611G>T (p.Lys537Asn)
c.1605G>T (p.Lys535Asn)
c.1146G>T (p.Lys382Asn)
c.675G>T (p.Lys225Asn)
n.2107G>T
n.2274G>T
c.2022G>T (p.Lys674Asn)
c.714G>T (p.Lys238Asn)
n.2324G>T
n.2297G>T
8g.141168429C>ACA372344392DENND3c.2179C>A (p.His727Asn)
c.1939C>A (p.His647Asn)
c.1783C>A (p.His595Asn)
c.1952C>A
n.1720C>A
c.1978C>A (p.His660Asn)
c.1822C>A (p.His608Asn)
c.1945C>A (p.His649Asn)
c.1435C>A (p.His479Asn)
c.1612C>A (p.His538Asn)
c.1606C>A (p.His536Asn)
c.1147C>A (p.His383Asn)
c.676C>A (p.His226Asn)
n.2108C>A
n.2275C>A
c.2023C>A (p.His675Asn)
c.715C>A (p.His239Asn)
n.2325C>A
n.2298C>A
8g.141168429C>GCA4896822DENND3c.2179C>G (p.His727Asp)
c.1939C>G (p.His647Asp)
c.1783C>G (p.His595Asp)
c.1952C>G
n.1720C>G
c.1978C>G (p.His660Asp)
c.1822C>G (p.His608Asp)
c.1945C>G (p.His649Asp)
c.1435C>G (p.His479Asp)
c.1612C>G (p.His538Asp)
c.1606C>G (p.His536Asp)
c.1147C>G (p.His383Asp)
c.676C>G (p.His226Asp)
n.2108C>G
n.2275C>G
c.2023C>G (p.His675Asp)
c.715C>G (p.His239Asp)
n.2325C>G
n.2298C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.141168429C>TCA4896823DENND3c.2179C>T (p.His727Tyr)
c.1939C>T (p.His647Tyr)
c.1783C>T (p.His595Tyr)
c.1952C>T
n.1720C>T
c.1978C>T (p.His660Tyr)
c.1822C>T (p.His608Tyr)
c.1945C>T (p.His649Tyr)
c.1435C>T (p.His479Tyr)
c.1612C>T (p.His538Tyr)
c.1606C>T (p.His536Tyr)
c.1147C>T (p.His383Tyr)
c.676C>T (p.His226Tyr)
n.2108C>T
n.2275C>T
c.2023C>T (p.His675Tyr)
c.715C>T (p.His239Tyr)
n.2325C>T
n.2298C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.141168431_141168432delCA2688780437DENND3c.2181_2182del (p.Met728AlafsTer?)
c.1941_1942del (p.Met648AlafsTer?)
c.1785_1786del (p.Met596AlafsTer?)
c.1954_1955del
n.1722_1723del
c.1980_1981del (p.Met661AlafsTer?)
c.1824_1825del (p.Met609AlafsTer?)
c.1947_1948del (p.Met650AlafsTer?)
c.1437_1438del (p.Met480AlafsTer?)
c.1614_1615del (p.Met539AlafsTer?)
c.1608_1609del (p.Met537AlafsTer?)
c.1149_1150del (p.Met384AlafsTer?)
c.678_679del (p.Met227AlafsTer?)
n.2110_2111del
n.2277_2278del
c.2025_2026del (p.Met676AlafsTer?)
c.717_718del (p.Met240AlafsTer?)
n.2327_2328del
n.2300_2301del
 gnomAD v4
8g.141168430A>CCA372344393DENND3c.2180A>C (p.His727Pro)
c.1940A>C (p.His647Pro)
c.1784A>C (p.His595Pro)
c.1953A>C
n.1721A>C
c.1979A>C (p.His660Pro)
c.1823A>C (p.His608Pro)
c.1946A>C (p.His649Pro)
c.1436A>C (p.His479Pro)
c.1613A>C (p.His538Pro)
c.1607A>C (p.His536Pro)
c.1148A>C (p.His383Pro)
c.677A>C (p.His226Pro)
n.2109A>C
n.2276A>C
c.2024A>C (p.His675Pro)
c.716A>C (p.His239Pro)
n.2326A>C
n.2299A>C
8g.141168430A>GCA372344394DENND3c.2180A>G (p.His727Arg)
c.1940A>G (p.His647Arg)
c.1784A>G (p.His595Arg)
c.1953A>G
n.1721A>G
c.1979A>G (p.His660Arg)
c.1823A>G (p.His608Arg)
c.1946A>G (p.His649Arg)
c.1436A>G (p.His479Arg)
c.1613A>G (p.His538Arg)
c.1607A>G (p.His536Arg)
c.1148A>G (p.His383Arg)
c.677A>G (p.His226Arg)
n.2109A>G
n.2276A>G
c.2024A>G (p.His675Arg)
c.716A>G (p.His239Arg)
n.2326A>G
n.2299A>G
8g.141168430A>TCA372344395DENND3c.2180A>T (p.His727Leu)
c.1940A>T (p.His647Leu)
c.1784A>T (p.His595Leu)
c.1953A>T
n.1721A>T
c.1979A>T (p.His660Leu)
c.1823A>T (p.His608Leu)
c.1946A>T (p.His649Leu)
c.1436A>T (p.His479Leu)
c.1613A>T (p.His538Leu)
c.1607A>T (p.His536Leu)
c.1148A>T (p.His383Leu)
c.677A>T (p.His226Leu)
n.2109A>T
n.2276A>T
c.2024A>T (p.His675Leu)
c.716A>T (p.His239Leu)
n.2326A>T
n.2299A>T
8g.141168431C>ACA372344396DENND3c.2181C>A (p.His727Gln)
c.1941C>A (p.His647Gln)
c.1785C>A (p.His595Gln)
c.1954C>A
n.1722C>A
c.1980C>A (p.His660Gln)
c.1824C>A (p.His608Gln)
c.1947C>A (p.His649Gln)
c.1437C>A (p.His479Gln)
c.1614C>A (p.His538Gln)
c.1608C>A (p.His536Gln)
c.1149C>A (p.His383Gln)
c.678C>A (p.His226Gln)
n.2110C>A
n.2277C>A
c.2025C>A (p.His675Gln)
c.717C>A (p.His239Gln)
n.2327C>A
n.2300C>A
8g.141168431C>GCA372344397DENND3c.2181C>G (p.His727Gln)
c.1941C>G (p.His647Gln)
c.1785C>G (p.His595Gln)
c.1954C>G
n.1722C>G
c.1980C>G (p.His660Gln)
c.1824C>G (p.His608Gln)
c.1947C>G (p.His649Gln)
c.1437C>G (p.His479Gln)
c.1614C>G (p.His538Gln)
c.1608C>G (p.His536Gln)
c.1149C>G (p.His383Gln)
c.678C>G (p.His226Gln)
n.2110C>G
n.2277C>G
c.2025C>G (p.His675Gln)
c.717C>G (p.His239Gln)
n.2327C>G
n.2300C>G
8g.141168431C>TCA187325855DENND3c.2181C>T (p.His727=)
c.1941C>T (p.His647=)
c.1785C>T (p.His595=)
c.1954C>T
n.1722C>T
c.1980C>T (p.His660=)
c.1824C>T (p.His608=)
c.1947C>T (p.His649=)
c.1437C>T (p.His479=)
c.1614C>T (p.His538=)
c.1608C>T (p.His536=)
c.1149C>T (p.His383=)
c.678C>T (p.His226=)
n.2110C>T
n.2277C>T
c.2025C>T (p.His675=)
c.717C>T (p.His239=)
n.2327C>T
n.2300C>T
 dbSNP
8g.141168432A>CCA372344398DENND3c.2182A>C (p.Met728Leu)
c.1942A>C (p.Met648Leu)
c.1786A>C (p.Met596Leu)
c.1955A>C
n.1723A>C
c.1981A>C (p.Met661Leu)
c.1825A>C (p.Met609Leu)
c.1948A>C (p.Met650Leu)
c.1438A>C (p.Met480Leu)
c.1615A>C (p.Met539Leu)
c.1609A>C (p.Met537Leu)
c.1150A>C (p.Met384Leu)
c.679A>C (p.Met227Leu)
n.2111A>C
n.2278A>C
c.2026A>C (p.Met676Leu)
c.718A>C (p.Met240Leu)
n.2328A>C
n.2301A>C
8g.141168432A>GCA372344399DENND3c.2182A>G (p.Met728Val)
c.1942A>G (p.Met648Val)
c.1786A>G (p.Met596Val)
c.1955A>G
n.1723A>G
c.1981A>G (p.Met661Val)
c.1825A>G (p.Met609Val)
c.1948A>G (p.Met650Val)
c.1438A>G (p.Met480Val)
c.1615A>G (p.Met539Val)
c.1609A>G (p.Met537Val)
c.1150A>G (p.Met384Val)
c.679A>G (p.Met227Val)
n.2111A>G
n.2278A>G
c.2026A>G (p.Met676Val)
c.718A>G (p.Met240Val)
n.2328A>G
n.2301A>G
 dbSNP gnomAD v4
8g.141168432A>TCA372344400DENND3c.2182A>T (p.Met728Leu)
c.1942A>T (p.Met648Leu)
c.1786A>T (p.Met596Leu)
c.1955A>T
n.1723A>T
c.1981A>T (p.Met661Leu)
c.1825A>T (p.Met609Leu)
c.1948A>T (p.Met650Leu)
c.1438A>T (p.Met480Leu)
c.1615A>T (p.Met539Leu)
c.1609A>T (p.Met537Leu)
c.1150A>T (p.Met384Leu)
c.679A>T (p.Met227Leu)
n.2111A>T
n.2278A>T
c.2026A>T (p.Met676Leu)
c.718A>T (p.Met240Leu)
n.2328A>T
n.2301A>T
8g.141168433T>ACA372344401DENND3c.2183T>A (p.Met728Lys)
c.1943T>A (p.Met648Lys)
c.1787T>A (p.Met596Lys)
c.1956T>A
n.1724T>A
c.1982T>A (p.Met661Lys)
c.1826T>A (p.Met609Lys)
c.1949T>A (p.Met650Lys)
c.1439T>A (p.Met480Lys)
c.1616T>A (p.Met539Lys)
c.1610T>A (p.Met537Lys)
c.1151T>A (p.Met384Lys)
c.680T>A (p.Met227Lys)
n.2112T>A
n.2279T>A
c.2027T>A (p.Met676Lys)
c.719T>A (p.Met240Lys)
n.2329T>A
n.2302T>A
8g.141168433T>CCA187325856DENND3c.2183T>C (p.Met728Thr)
c.1943T>C (p.Met648Thr)
c.1787T>C (p.Met596Thr)
c.1956T>C
n.1724T>C
c.1982T>C (p.Met661Thr)
c.1826T>C (p.Met609Thr)
c.1949T>C (p.Met650Thr)
c.1439T>C (p.Met480Thr)
c.1616T>C (p.Met539Thr)
c.1610T>C (p.Met537Thr)
c.1151T>C (p.Met384Thr)
c.680T>C (p.Met227Thr)
n.2112T>C
n.2279T>C
c.2027T>C (p.Met676Thr)
c.719T>C (p.Met240Thr)
n.2329T>C
n.2302T>C
 dbSNP gnomAD v4
8g.141168433T>GCA372344402DENND3c.2183T>G (p.Met728Arg)
c.1943T>G (p.Met648Arg)
c.1787T>G (p.Met596Arg)
c.1956T>G
n.1724T>G
c.1982T>G (p.Met661Arg)
c.1826T>G (p.Met609Arg)
c.1949T>G (p.Met650Arg)
c.1439T>G (p.Met480Arg)
c.1616T>G (p.Met539Arg)
c.1610T>G (p.Met537Arg)
c.1151T>G (p.Met384Arg)
c.680T>G (p.Met227Arg)
n.2112T>G
n.2279T>G
c.2027T>G (p.Met676Arg)
c.719T>G (p.Met240Arg)
n.2329T>G
n.2302T>G
8g.141168434G>ACA372344403DENND3c.2184G>A (p.Met728Ile)
c.1944G>A (p.Met648Ile)
c.1788G>A (p.Met596Ile)
c.1957G>A
n.1725G>A
c.1983G>A (p.Met661Ile)
c.1827G>A (p.Met609Ile)
c.1950G>A (p.Met650Ile)
c.1440G>A (p.Met480Ile)
c.1617G>A (p.Met539Ile)
c.1611G>A (p.Met537Ile)
c.1152G>A (p.Met384Ile)
c.681G>A (p.Met227Ile)
n.2113G>A
n.2280G>A
c.2028G>A (p.Met676Ile)
c.720G>A (p.Met240Ile)
n.2330G>A
n.2303G>A
8g.141168434G>CCA372344404DENND3c.2184G>C (p.Met728Ile)
c.1944G>C (p.Met648Ile)
c.1788G>C (p.Met596Ile)
c.1957G>C
n.1725G>C
c.1983G>C (p.Met661Ile)
c.1827G>C (p.Met609Ile)
c.1950G>C (p.Met650Ile)
c.1440G>C (p.Met480Ile)
c.1617G>C (p.Met539Ile)
c.1611G>C (p.Met537Ile)
c.1152G>C (p.Met384Ile)
c.681G>C (p.Met227Ile)
n.2113G>C
n.2280G>C
c.2028G>C (p.Met676Ile)
c.720G>C (p.Met240Ile)
n.2330G>C
n.2303G>C
8g.141168434G>TCA372344405DENND3c.2184G>T (p.Met728Ile)
c.1944G>T (p.Met648Ile)
c.1788G>T (p.Met596Ile)
c.1957G>T
n.1725G>T
c.1983G>T (p.Met661Ile)
c.1827G>T (p.Met609Ile)
c.1950G>T (p.Met650Ile)
c.1440G>T (p.Met480Ile)
c.1617G>T (p.Met539Ile)
c.1611G>T (p.Met537Ile)
c.1152G>T (p.Met384Ile)
c.681G>T (p.Met227Ile)
n.2113G>T
n.2280G>T
c.2028G>T (p.Met676Ile)
c.720G>T (p.Met240Ile)
n.2330G>T
n.2303G>T
8g.141168435C>ACA372344406DENND3c.2185C>A (p.Gln729Lys)
c.1945C>A (p.Gln649Lys)
c.1789C>A (p.Gln597Lys)
c.1958C>A
n.1726C>A
c.1984C>A (p.Gln662Lys)
c.1828C>A (p.Gln610Lys)
c.1951C>A (p.Gln651Lys)
c.1441C>A (p.Gln481Lys)
c.1618C>A (p.Gln540Lys)
c.1612C>A (p.Gln538Lys)
c.1153C>A (p.Gln385Lys)
c.682C>A (p.Gln228Lys)
n.2114C>A
n.2281C>A
c.2029C>A (p.Gln677Lys)
c.721C>A (p.Gln241Lys)
n.2331C>A
n.2304C>A
8g.141168435C>GCA372344407DENND3c.2185C>G (p.Gln729Glu)
c.1945C>G (p.Gln649Glu)
c.1789C>G (p.Gln597Glu)
c.1958C>G
n.1726C>G
c.1984C>G (p.Gln662Glu)
c.1828C>G (p.Gln610Glu)
c.1951C>G (p.Gln651Glu)
c.1441C>G (p.Gln481Glu)
c.1618C>G (p.Gln540Glu)
c.1612C>G (p.Gln538Glu)
c.1153C>G (p.Gln385Glu)
c.682C>G (p.Gln228Glu)
n.2114C>G
n.2281C>G
c.2029C>G (p.Gln677Glu)
c.721C>G (p.Gln241Glu)
n.2331C>G
n.2304C>G
 gnomAD v4
8g.141168435C>TCA372344408DENND3c.2185C>T (p.Gln729Ter)
c.1945C>T (p.Gln649Ter)
c.1789C>T (p.Gln597Ter)
c.1958C>T
n.1726C>T
c.1984C>T (p.Gln662Ter)
c.1828C>T (p.Gln610Ter)
c.1951C>T (p.Gln651Ter)
c.1441C>T (p.Gln481Ter)
c.1618C>T (p.Gln540Ter)
c.1612C>T (p.Gln538Ter)
c.1153C>T (p.Gln385Ter)
c.682C>T (p.Gln228Ter)
n.2114C>T
n.2281C>T
c.2029C>T (p.Gln677Ter)
c.721C>T (p.Gln241Ter)
n.2331C>T
n.2304C>T
 gnomAD v4
8g.141168436A>CCA372344411DENND3c.2186A>C (p.Gln729Pro)
c.1946A>C (p.Gln649Pro)
c.1790A>C (p.Gln597Pro)
c.1959A>C
n.1727A>C
c.1985A>C (p.Gln662Pro)
c.1829A>C (p.Gln610Pro)
c.1952A>C (p.Gln651Pro)
c.1442A>C (p.Gln481Pro)
c.1619A>C (p.Gln540Pro)
c.1613A>C (p.Gln538Pro)
c.1154A>C (p.Gln385Pro)
c.683A>C (p.Gln228Pro)
n.2115A>C
n.2282A>C
c.2030A>C (p.Gln677Pro)
c.722A>C (p.Gln241Pro)
n.2332A>C
n.2305A>C
8g.141168436A>GCA372344409DENND3c.2186A>G (p.Gln729Arg)
c.1946A>G (p.Gln649Arg)
c.1790A>G (p.Gln597Arg)
c.1959A>G
n.1727A>G
c.1985A>G (p.Gln662Arg)
c.1829A>G (p.Gln610Arg)
c.1952A>G (p.Gln651Arg)
c.1442A>G (p.Gln481Arg)
c.1619A>G (p.Gln540Arg)
c.1613A>G (p.Gln538Arg)
c.1154A>G (p.Gln385Arg)
c.683A>G (p.Gln228Arg)
n.2115A>G
n.2282A>G
c.2030A>G (p.Gln677Arg)
c.722A>G (p.Gln241Arg)
n.2332A>G
n.2305A>G
8g.141168436A>TCA372344410DENND3c.2186A>T (p.Gln729Leu)
c.1946A>T (p.Gln649Leu)
c.1790A>T (p.Gln597Leu)
c.1959A>T
n.1727A>T
c.1985A>T (p.Gln662Leu)
c.1829A>T (p.Gln610Leu)
c.1952A>T (p.Gln651Leu)
c.1442A>T (p.Gln481Leu)
c.1619A>T (p.Gln540Leu)
c.1613A>T (p.Gln538Leu)
c.1154A>T (p.Gln385Leu)
c.683A>T (p.Gln228Leu)
n.2115A>T
n.2282A>T
c.2030A>T (p.Gln677Leu)
c.722A>T (p.Gln241Leu)
n.2332A>T
n.2305A>T
8g.141168437G>ACA4896824DENND3c.2187G>A (p.Gln729=)
c.1947G>A (p.Gln649=)
c.1791G>A (p.Gln597=)
c.1960G>A
n.1728G>A
c.1986G>A (p.Gln662=)
c.1830G>A (p.Gln610=)
c.1953G>A (p.Gln651=)
c.1443G>A (p.Gln481=)
c.1620G>A (p.Gln540=)
c.1614G>A (p.Gln538=)
c.1155G>A (p.Gln385=)
c.684G>A (p.Gln228=)
n.2116G>A
n.2283G>A
c.2031G>A (p.Gln677=)
c.723G>A (p.Gln241=)
n.2333G>A
n.2306G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.141168437G>CCA372344412DENND3c.2187G>C (p.Gln729His)
c.1947G>C (p.Gln649His)
c.1791G>C (p.Gln597His)
c.1960G>C
n.1728G>C
c.1986G>C (p.Gln662His)
c.1830G>C (p.Gln610His)
c.1953G>C (p.Gln651His)
c.1443G>C (p.Gln481His)
c.1620G>C (p.Gln540His)
c.1614G>C (p.Gln538His)
c.1155G>C (p.Gln385His)
c.684G>C (p.Gln228His)
n.2116G>C
n.2283G>C
c.2031G>C (p.Gln677His)
c.723G>C (p.Gln241His)
n.2333G>C
n.2306G>C
 gnomAD v4
8g.141168437G>TCA372344413DENND3c.2187G>T (p.Gln729His)
c.1947G>T (p.Gln649His)
c.1791G>T (p.Gln597His)
c.1960G>T
n.1728G>T
c.1986G>T (p.Gln662His)
c.1830G>T (p.Gln610His)
c.1953G>T (p.Gln651His)
c.1443G>T (p.Gln481His)
c.1620G>T (p.Gln540His)
c.1614G>T (p.Gln538His)
c.1155G>T (p.Gln385His)
c.684G>T (p.Gln228His)
n.2116G>T
n.2283G>T
c.2031G>T (p.Gln677His)
c.723G>T (p.Gln241His)
n.2333G>T
n.2306G>T
8g.141168438C>ACA372344414DENND3c.2188C>A (p.Leu730Met)
c.1948C>A (p.Leu650Met)
c.1792C>A (p.Leu598Met)
c.1961C>A
n.1729C>A
c.1987C>A (p.Leu663Met)
c.1831C>A (p.Leu611Met)
c.1954C>A (p.Leu652Met)
c.1444C>A (p.Leu482Met)
c.1621C>A (p.Leu541Met)
c.1615C>A (p.Leu539Met)
c.1156C>A (p.Leu386Met)
c.685C>A (p.Leu229Met)
n.2117C>A
n.2284C>A
c.2032C>A (p.Leu678Met)
c.724C>A (p.Leu242Met)
n.2334C>A
n.2307C>A
8g.141168438C>GCA372344415DENND3c.2188C>G (p.Leu730Val)
c.1948C>G (p.Leu650Val)
c.1792C>G (p.Leu598Val)
c.1961C>G
n.1729C>G
c.1987C>G (p.Leu663Val)
c.1831C>G (p.Leu611Val)
c.1954C>G (p.Leu652Val)
c.1444C>G (p.Leu482Val)
c.1621C>G (p.Leu541Val)
c.1615C>G (p.Leu539Val)
c.1156C>G (p.Leu386Val)
c.685C>G (p.Leu229Val)
n.2117C>G
n.2284C>G
c.2032C>G (p.Leu678Val)
c.724C>G (p.Leu242Val)
n.2334C>G
n.2307C>G
8g.141168438C>TCA463497016DENND3c.2188C>T (p.Leu730=)
c.1948C>T (p.Leu650=)
c.1792C>T (p.Leu598=)
c.1961C>T
n.1729C>T
c.1987C>T (p.Leu663=)
c.1831C>T (p.Leu611=)
c.1954C>T (p.Leu652=)
c.1444C>T (p.Leu482=)
c.1621C>T (p.Leu541=)
c.1615C>T (p.Leu539=)
c.1156C>T (p.Leu386=)
c.685C>T (p.Leu229=)
n.2117C>T
n.2284C>T
c.2032C>T (p.Leu678=)
c.724C>T (p.Leu242=)
n.2334C>T
n.2307C>T
8g.141168439T>ACA372344416DENND3c.2189T>A (p.Leu730Gln)
c.1949T>A (p.Leu650Gln)
c.1793T>A (p.Leu598Gln)
c.1962T>A
n.1730T>A
c.1988T>A (p.Leu663Gln)
c.1832T>A (p.Leu611Gln)
c.1955T>A (p.Leu652Gln)
c.1445T>A (p.Leu482Gln)
c.1622T>A (p.Leu541Gln)
c.1616T>A (p.Leu539Gln)
c.1157T>A (p.Leu386Gln)
c.686T>A (p.Leu229Gln)
n.2118T>A
n.2285T>A
c.2033T>A (p.Leu678Gln)
c.725T>A (p.Leu242Gln)
n.2335T>A
n.2308T>A
8g.141168439T>CCA372344417DENND3c.2189T>C (p.Leu730Pro)
c.1949T>C (p.Leu650Pro)
c.1793T>C (p.Leu598Pro)
c.1962T>C
n.1730T>C
c.1988T>C (p.Leu663Pro)
c.1832T>C (p.Leu611Pro)
c.1955T>C (p.Leu652Pro)
c.1445T>C (p.Leu482Pro)
c.1622T>C (p.Leu541Pro)
c.1616T>C (p.Leu539Pro)
c.1157T>C (p.Leu386Pro)
c.686T>C (p.Leu229Pro)
n.2118T>C
n.2285T>C
c.2033T>C (p.Leu678Pro)
c.725T>C (p.Leu242Pro)
n.2335T>C
n.2308T>C
8g.141168439T>GCA372344418DENND3c.2189T>G (p.Leu730Arg)
c.1949T>G (p.Leu650Arg)
c.1793T>G (p.Leu598Arg)
c.1962T>G
n.1730T>G
c.1988T>G (p.Leu663Arg)
c.1832T>G (p.Leu611Arg)
c.1955T>G (p.Leu652Arg)
c.1445T>G (p.Leu482Arg)
c.1622T>G (p.Leu541Arg)
c.1616T>G (p.Leu539Arg)
c.1157T>G (p.Leu386Arg)
c.686T>G (p.Leu229Arg)
n.2118T>G
n.2285T>G
c.2033T>G (p.Leu678Arg)
c.725T>G (p.Leu242Arg)
n.2335T>G
n.2308T>G
8g.141168440G>ACA4896825DENND3c.2190G>A (p.Leu730=)
c.1950G>A (p.Leu650=)
c.1794G>A (p.Leu598=)
c.1963G>A
n.1731G>A
c.1989G>A (p.Leu663=)
c.1833G>A (p.Leu611=)
c.1956G>A (p.Leu652=)
c.1446G>A (p.Leu482=)
c.1623G>A (p.Leu541=)
c.1617G>A (p.Leu539=)
c.1158G>A (p.Leu386=)
c.687G>A (p.Leu229=)
n.2119G>A
n.2286G>A
c.2034G>A (p.Leu678=)
c.726G>A (p.Leu242=)
n.2336G>A
n.2309G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.141168440G>CCA463497019DENND3c.2190G>C (p.Leu730=)
c.1950G>C (p.Leu650=)
c.1794G>C (p.Leu598=)
c.1963G>C
n.1731G>C
c.1989G>C (p.Leu663=)
c.1833G>C (p.Leu611=)
c.1956G>C (p.Leu652=)
c.1446G>C (p.Leu482=)
c.1623G>C (p.Leu541=)
c.1617G>C (p.Leu539=)
c.1158G>C (p.Leu386=)
c.687G>C (p.Leu229=)
n.2119G>C
n.2286G>C
c.2034G>C (p.Leu678=)
c.726G>C (p.Leu242=)
n.2336G>C
n.2309G>C
8g.141168440G>TCA463497018DENND3c.2190G>T (p.Leu730=)
c.1950G>T (p.Leu650=)
c.1794G>T (p.Leu598=)
c.1963G>T
n.1731G>T
c.1989G>T (p.Leu663=)
c.1833G>T (p.Leu611=)
c.1956G>T (p.Leu652=)
c.1446G>T (p.Leu482=)
c.1623G>T (p.Leu541=)
c.1617G>T (p.Leu539=)
c.1158G>T (p.Leu386=)
c.687G>T (p.Leu229=)
n.2119G>T
n.2286G>T
c.2034G>T (p.Leu678=)
c.726G>T (p.Leu242=)
n.2336G>T
n.2309G>T
8g.141168441G>ACA372344419DENND3c.2191G>A (p.Gly731Ser)
c.1951G>A (p.Gly651Ser)
c.1795G>A (p.Gly599Ser)
c.1964G>A
n.1732G>A
c.1990G>A (p.Gly664Ser)
c.1834G>A (p.Gly612Ser)
c.1957G>A (p.Gly653Ser)
c.1447G>A (p.Gly483Ser)
c.1624G>A (p.Gly542Ser)
c.1618G>A (p.Gly540Ser)
c.1159G>A (p.Gly387Ser)
c.688G>A (p.Gly230Ser)
n.2120G>A
n.2287G>A
c.2035G>A (p.Gly679Ser)
c.727G>A (p.Gly243Ser)
n.2337G>A
n.2310G>A
8g.141168441G>CCA372344420DENND3c.2191G>C (p.Gly731Arg)
c.1951G>C (p.Gly651Arg)
c.1795G>C (p.Gly599Arg)
c.1964G>C
n.1732G>C
c.1990G>C (p.Gly664Arg)
c.1834G>C (p.Gly612Arg)
c.1957G>C (p.Gly653Arg)
c.1447G>C (p.Gly483Arg)
c.1624G>C (p.Gly542Arg)
c.1618G>C (p.Gly540Arg)
c.1159G>C (p.Gly387Arg)
c.688G>C (p.Gly230Arg)
n.2120G>C
n.2287G>C
c.2035G>C (p.Gly679Arg)
c.727G>C (p.Gly243Arg)
n.2337G>C
n.2310G>C
8g.141168441G>TCA372344421DENND3c.2191G>T (p.Gly731Cys)
c.1951G>T (p.Gly651Cys)
c.1795G>T (p.Gly599Cys)
c.1964G>T
n.1732G>T
c.1990G>T (p.Gly664Cys)
c.1834G>T (p.Gly612Cys)
c.1957G>T (p.Gly653Cys)
c.1447G>T (p.Gly483Cys)
c.1624G>T (p.Gly542Cys)
c.1618G>T (p.Gly540Cys)
c.1159G>T (p.Gly387Cys)
c.688G>T (p.Gly230Cys)
n.2120G>T
n.2287G>T
c.2035G>T (p.Gly679Cys)
c.727G>T (p.Gly243Cys)
n.2337G>T
n.2310G>T
 gnomAD v4
8g.141168442G>ACA372344423DENND3c.2192G>A (p.Gly731Asp)
c.1952G>A (p.Gly651Asp)
c.1796G>A (p.Gly599Asp)
c.1965G>A
n.1733G>A
c.1991G>A (p.Gly664Asp)
c.1835G>A (p.Gly612Asp)
c.1958G>A (p.Gly653Asp)
c.1448G>A (p.Gly483Asp)
c.1625G>A (p.Gly542Asp)
c.1619G>A (p.Gly540Asp)
c.1160G>A (p.Gly387Asp)
c.689G>A (p.Gly230Asp)
n.2121G>A
n.2288G>A
c.2036G>A (p.Gly679Asp)
c.728G>A (p.Gly243Asp)
n.2338G>A
n.2311G>A
8g.141168442G>CCA372344424DENND3c.2192G>C (p.Gly731Ala)
c.1952G>C (p.Gly651Ala)
c.1796G>C (p.Gly599Ala)
c.1965G>C
n.1733G>C
c.1991G>C (p.Gly664Ala)
c.1835G>C (p.Gly612Ala)
c.1958G>C (p.Gly653Ala)
c.1448G>C (p.Gly483Ala)
c.1625G>C (p.Gly542Ala)
c.1619G>C (p.Gly540Ala)
c.1160G>C (p.Gly387Ala)
c.689G>C (p.Gly230Ala)
n.2121G>C
n.2288G>C
c.2036G>C (p.Gly679Ala)
c.728G>C (p.Gly243Ala)
n.2338G>C
n.2311G>C
8g.141168442G>TCA372344422DENND3c.2192G>T (p.Gly731Val)
c.1952G>T (p.Gly651Val)
c.1796G>T (p.Gly599Val)
c.1965G>T
n.1733G>T
c.1991G>T (p.Gly664Val)
c.1835G>T (p.Gly612Val)
c.1958G>T (p.Gly653Val)
c.1448G>T (p.Gly483Val)
c.1625G>T (p.Gly542Val)
c.1619G>T (p.Gly540Val)
c.1160G>T (p.Gly387Val)
c.689G>T (p.Gly230Val)
n.2121G>T
n.2288G>T
c.2036G>T (p.Gly679Val)
c.728G>T (p.Gly243Val)
n.2338G>T
n.2311G>T
8g.141168443C>ACA4896826DENND3c.2193C>A (p.Gly731=)
c.1953C>A (p.Gly651=)
c.1797C>A (p.Gly599=)
c.1966C>A
n.1734C>A
c.1992C>A (p.Gly664=)
c.1836C>A (p.Gly612=)
c.1959C>A (p.Gly653=)
c.1449C>A (p.Gly483=)
c.1626C>A (p.Gly542=)
c.1620C>A (p.Gly540=)
c.1161C>A (p.Gly387=)
c.690C>A (p.Gly230=)
n.2122C>A
n.2289C>A
c.2037C>A (p.Gly679=)
c.729C>A (p.Gly243=)
n.2339C>A
n.2312C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.141168443C>GCA463497021DENND3c.2193C>G (p.Gly731=)
c.1953C>G (p.Gly651=)
c.1797C>G (p.Gly599=)
c.1966C>G
n.1734C>G
c.1992C>G (p.Gly664=)
c.1836C>G (p.Gly612=)
c.1959C>G (p.Gly653=)
c.1449C>G (p.Gly483=)
c.1626C>G (p.Gly542=)
c.1620C>G (p.Gly540=)
c.1161C>G (p.Gly387=)
c.690C>G (p.Gly230=)
n.2122C>G
n.2289C>G
c.2037C>G (p.Gly679=)
c.729C>G (p.Gly243=)
n.2339C>G
n.2312C>G
8g.141168443C>TCA4896827DENND3c.2193C>T (p.Gly731=)
c.1953C>T (p.Gly651=)
c.1797C>T (p.Gly599=)
c.1966C>T
n.1734C>T
c.1992C>T (p.Gly664=)
c.1836C>T (p.Gly612=)
c.1959C>T (p.Gly653=)
c.1449C>T (p.Gly483=)
c.1626C>T (p.Gly542=)
c.1620C>T (p.Gly540=)
c.1161C>T (p.Gly387=)
c.690C>T (p.Gly230=)
n.2122C>T
n.2289C>T
c.2037C>T (p.Gly679=)
c.729C>T (p.Gly243=)
n.2339C>T
n.2312C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.141168444G>ACA4896828DENND3c.2194G>A (p.Asp732Asn)
c.1954G>A (p.Asp652Asn)
c.1798G>A (p.Asp600Asn)
c.1967G>A
n.1735G>A
c.1993G>A (p.Asp665Asn)
c.1837G>A (p.Asp613Asn)
c.1960G>A (p.Asp654Asn)
c.1450G>A (p.Asp484Asn)
c.1627G>A (p.Asp543Asn)
c.1621G>A (p.Asp541Asn)
c.1162G>A (p.Asp388Asn)
c.691G>A (p.Asp231Asn)
n.2123G>A
n.2290G>A
c.2038G>A (p.Asp680Asn)
c.730G>A (p.Asp244Asn)
n.2340G>A
n.2313G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.141168444G>CCA372344425DENND3c.2194G>C (p.Asp732His)
c.1954G>C (p.Asp652His)
c.1798G>C (p.Asp600His)
c.1967G>C
n.1735G>C
c.1993G>C (p.Asp665His)
c.1837G>C (p.Asp613His)
c.1960G>C (p.Asp654His)
c.1450G>C (p.Asp484His)
c.1627G>C (p.Asp543His)
c.1621G>C (p.Asp541His)
c.1162G>C (p.Asp388His)
c.691G>C (p.Asp231His)
n.2123G>C
n.2290G>C
c.2038G>C (p.Asp680His)
c.730G>C (p.Asp244His)
n.2340G>C
n.2313G>C
8g.141168444G>TCA372344426DENND3c.2194G>T (p.Asp732Tyr)
c.1954G>T (p.Asp652Tyr)
c.1798G>T (p.Asp600Tyr)
c.1967G>T
n.1735G>T
c.1993G>T (p.Asp665Tyr)
c.1837G>T (p.Asp613Tyr)
c.1960G>T (p.Asp654Tyr)
c.1450G>T (p.Asp484Tyr)
c.1627G>T (p.Asp543Tyr)
c.1621G>T (p.Asp541Tyr)
c.1162G>T (p.Asp388Tyr)
c.691G>T (p.Asp231Tyr)
n.2123G>T
n.2290G>T
c.2038G>T (p.Asp680Tyr)
c.730G>T (p.Asp244Tyr)
n.2340G>T
n.2313G>T
8g.141168445delCA2688780441DENND3c.2195del (p.Asp732AlafsTer3)
c.1955del (p.Asp652AlafsTer3)
c.1799del (p.Asp600AlafsTer3)
c.1968del
n.1736del
c.1994del (p.Asp665AlafsTer3)
c.1838del (p.Asp613AlafsTer3)
c.1961del (p.Asp654AlafsTer3)
c.1451del (p.Asp484AlafsTer3)
c.1628del (p.Asp543AlafsTer3)
c.1622del (p.Asp541AlafsTer3)
c.1163del (p.Asp388AlafsTer3)
c.692del (p.Asp231AlafsTer3)
n.2124del
n.2291del
c.2039del (p.Asp680AlafsTer3)
c.731del (p.Asp244AlafsTer3)
n.2341del
n.2314del
 gnomAD v4
8g.141168445A>CCA372344427DENND3c.2195A>C (p.Asp732Ala)
c.1955A>C (p.Asp652Ala)
c.1799A>C (p.Asp600Ala)
c.1968A>C
n.1736A>C
c.1994A>C (p.Asp665Ala)
c.1838A>C (p.Asp613Ala)
c.1961A>C (p.Asp654Ala)
c.1451A>C (p.Asp484Ala)
c.1628A>C (p.Asp543Ala)
c.1622A>C (p.Asp541Ala)
c.1163A>C (p.Asp388Ala)
c.692A>C (p.Asp231Ala)
n.2124A>C
n.2291A>C
c.2039A>C (p.Asp680Ala)
c.731A>C (p.Asp244Ala)
n.2341A>C
n.2314A>C
8g.141168445A>GCA372344428DENND3c.2195A>G (p.Asp732Gly)
c.1955A>G (p.Asp652Gly)
c.1799A>G (p.Asp600Gly)
c.1968A>G
n.1736A>G
c.1994A>G (p.Asp665Gly)
c.1838A>G (p.Asp613Gly)
c.1961A>G (p.Asp654Gly)
c.1451A>G (p.Asp484Gly)
c.1628A>G (p.Asp543Gly)
c.1622A>G (p.Asp541Gly)
c.1163A>G (p.Asp388Gly)
c.692A>G (p.Asp231Gly)
n.2124A>G
n.2291A>G
c.2039A>G (p.Asp680Gly)
c.731A>G (p.Asp244Gly)
n.2341A>G
n.2314A>G
8g.141168445A>TCA372344429DENND3c.2195A>T (p.Asp732Val)
c.1955A>T (p.Asp652Val)
c.1799A>T (p.Asp600Val)
c.1968A>T
n.1736A>T
c.1994A>T (p.Asp665Val)
c.1838A>T (p.Asp613Val)
c.1961A>T (p.Asp654Val)
c.1451A>T (p.Asp484Val)
c.1628A>T (p.Asp543Val)
c.1622A>T (p.Asp541Val)
c.1163A>T (p.Asp388Val)
c.692A>T (p.Asp231Val)
n.2124A>T
n.2291A>T
c.2039A>T (p.Asp680Val)
c.731A>T (p.Asp244Val)
n.2341A>T
n.2314A>T
8g.141168446C>ACA4896829DENND3c.2196C>A (p.Asp732Glu)
c.1956C>A (p.Asp652Glu)
c.1800C>A (p.Asp600Glu)
c.1969C>A
n.1737C>A
c.1995C>A (p.Asp665Glu)
c.1839C>A (p.Asp613Glu)
c.1962C>A (p.Asp654Glu)
c.1452C>A (p.Asp484Glu)
c.1629C>A (p.Asp543Glu)
c.1623C>A (p.Asp541Glu)
c.1164C>A (p.Asp388Glu)
c.693C>A (p.Asp231Glu)
n.2125C>A
n.2292C>A
c.2040C>A (p.Asp680Glu)
c.732C>A (p.Asp244Glu)
n.2342C>A
n.2315C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.141168446C>GCA372344430DENND3c.2196C>G (p.Asp732Glu)
c.1956C>G (p.Asp652Glu)
c.1800C>G (p.Asp600Glu)
c.1969C>G
n.1737C>G
c.1995C>G (p.Asp665Glu)
c.1839C>G (p.Asp613Glu)
c.1962C>G (p.Asp654Glu)
c.1452C>G (p.Asp484Glu)
c.1629C>G (p.Asp543Glu)
c.1623C>G (p.Asp541Glu)
c.1164C>G (p.Asp388Glu)
c.693C>G (p.Asp231Glu)
n.2125C>G
n.2292C>G
c.2040C>G (p.Asp680Glu)
c.732C>G (p.Asp244Glu)
n.2342C>G
n.2315C>G
8g.141168446C>TCA463497024DENND3c.2196C>T (p.Asp732=)
c.1956C>T (p.Asp652=)
c.1800C>T (p.Asp600=)
c.1969C>T
n.1737C>T
c.1995C>T (p.Asp665=)
c.1839C>T (p.Asp613=)
c.1962C>T (p.Asp654=)
c.1452C>T (p.Asp484=)
c.1629C>T (p.Asp543=)
c.1623C>T (p.Asp541=)
c.1164C>T (p.Asp388=)
c.693C>T (p.Asp231=)
n.2125C>T
n.2292C>T
c.2040C>T (p.Asp680=)
c.732C>T (p.Asp244=)
n.2342C>T
n.2315C>T
 gnomAD v4
8g.141168447T>ACA372344431DENND3c.2197T>A (p.Phe733Ile)
c.1957T>A (p.Phe653Ile)
c.1801T>A (p.Phe601Ile)
c.1970T>A
n.1738T>A
c.1996T>A (p.Phe666Ile)
c.1840T>A (p.Phe614Ile)
c.1963T>A (p.Phe655Ile)
c.1453T>A (p.Phe485Ile)
c.1630T>A (p.Phe544Ile)
c.1624T>A (p.Phe542Ile)
c.1165T>A (p.Phe389Ile)
c.694T>A (p.Phe232Ile)
n.2126T>A
n.2293T>A
c.2041T>A (p.Phe681Ile)
c.733T>A (p.Phe245Ile)
n.2343T>A
n.2316T>A
8g.141168447T>CCA372344432DENND3c.2197T>C (p.Phe733Leu)
c.1957T>C (p.Phe653Leu)
c.1801T>C (p.Phe601Leu)
c.1970T>C
n.1738T>C
c.1996T>C (p.Phe666Leu)
c.1840T>C (p.Phe614Leu)
c.1963T>C (p.Phe655Leu)
c.1453T>C (p.Phe485Leu)
c.1630T>C (p.Phe544Leu)
c.1624T>C (p.Phe542Leu)
c.1165T>C (p.Phe389Leu)
c.694T>C (p.Phe232Leu)
n.2126T>C
n.2293T>C
c.2041T>C (p.Phe681Leu)
c.733T>C (p.Phe245Leu)
n.2343T>C
n.2316T>C
8g.141168447T>GCA372344433DENND3c.2197T>G (p.Phe733Val)
c.1957T>G (p.Phe653Val)
c.1801T>G (p.Phe601Val)
c.1970T>G
n.1738T>G
c.1996T>G (p.Phe666Val)
c.1840T>G (p.Phe614Val)
c.1963T>G (p.Phe655Val)
c.1453T>G (p.Phe485Val)
c.1630T>G (p.Phe544Val)
c.1624T>G (p.Phe542Val)
c.1165T>G (p.Phe389Val)
c.694T>G (p.Phe232Val)
n.2126T>G
n.2293T>G
c.2041T>G (p.Phe681Val)
c.733T>G (p.Phe245Val)
n.2343T>G
n.2316T>G
8g.141168448T>ACA372344436DENND3c.2198T>A (p.Phe733Tyr)
c.1958T>A (p.Phe653Tyr)
c.1802T>A (p.Phe601Tyr)
c.1971T>A
n.1739T>A
c.1997T>A (p.Phe666Tyr)
c.1841T>A (p.Phe614Tyr)
c.1964T>A (p.Phe655Tyr)
c.1454T>A (p.Phe485Tyr)
c.1631T>A (p.Phe544Tyr)
c.1625T>A (p.Phe542Tyr)
c.1166T>A (p.Phe389Tyr)
c.695T>A (p.Phe232Tyr)
n.2127T>A
n.2294T>A
c.2042T>A (p.Phe681Tyr)
c.734T>A (p.Phe245Tyr)
n.2344T>A
n.2317T>A
8g.141168448T>CCA372344435DENND3c.2198T>C (p.Phe733Ser)
c.1958T>C (p.Phe653Ser)
c.1802T>C (p.Phe601Ser)
c.1971T>C
n.1739T>C
c.1997T>C (p.Phe666Ser)
c.1841T>C (p.Phe614Ser)
c.1964T>C (p.Phe655Ser)
c.1454T>C (p.Phe485Ser)
c.1631T>C (p.Phe544Ser)
c.1625T>C (p.Phe542Ser)
c.1166T>C (p.Phe389Ser)
c.695T>C (p.Phe232Ser)
n.2127T>C
n.2294T>C
c.2042T>C (p.Phe681Ser)
c.734T>C (p.Phe245Ser)
n.2344T>C
n.2317T>C
8g.141168448T>GCA372344434DENND3c.2198T>G (p.Phe733Cys)
c.1958T>G (p.Phe653Cys)
c.1802T>G (p.Phe601Cys)
c.1971T>G
n.1739T>G
c.1997T>G (p.Phe666Cys)
c.1841T>G (p.Phe614Cys)
c.1964T>G (p.Phe655Cys)
c.1454T>G (p.Phe485Cys)
c.1631T>G (p.Phe544Cys)
c.1625T>G (p.Phe542Cys)
c.1166T>G (p.Phe389Cys)
c.695T>G (p.Phe232Cys)
n.2127T>G
n.2294T>G
c.2042T>G (p.Phe681Cys)
c.734T>G (p.Phe245Cys)
n.2344T>G
n.2317T>G
8g.141168448_141168449insTCTGGAGGGAGCA2688780442DENND3c.2198_2199insTCTGGAGGGAG (p.Met734LeufsTer5)
c.1958_1959insTCTGGAGGGAG (p.Met654LeufsTer5)
c.1802_1803insTCTGGAGGGAG (p.Met602LeufsTer5)
c.1971_1972insTCTGGAGGGAG
n.1739_1740insTCTGGAGGGAG
c.1997_1998insTCTGGAGGGAG (p.Met667LeufsTer5)
c.1841_1842insTCTGGAGGGAG (p.Met615LeufsTer5)
c.1964_1965insTCTGGAGGGAG (p.Met656LeufsTer5)
c.1454_1455insTCTGGAGGGAG (p.Met486LeufsTer5)
c.1631_1632insTCTGGAGGGAG (p.Met545LeufsTer5)
c.1625_1626insTCTGGAGGGAG (p.Met543LeufsTer5)
c.1166_1167insTCTGGAGGGAG (p.Met390LeufsTer5)
c.695_696insTCTGGAGGGAG (p.Met233LeufsTer5)
n.2127_2128insTCTGGAGGGAG
n.2294_2295insTCTGGAGGGAG
c.2042_2043insTCTGGAGGGAG (p.Met682LeufsTer5)
c.734_735insTCTGGAGGGAG (p.Met246LeufsTer5)
n.2344_2345insTCTGGAGGGAG
n.2317_2318insTCTGGAGGGAG
 gnomAD v4
8g.141168449C>ACA372344437DENND3c.2199C>A (p.Phe733Leu)
c.1959C>A (p.Phe653Leu)
c.1803C>A (p.Phe601Leu)
c.1972C>A
n.1740C>A
c.1998C>A (p.Phe666Leu)
c.1842C>A (p.Phe614Leu)
c.1965C>A (p.Phe655Leu)
c.1455C>A (p.Phe485Leu)
c.1632C>A (p.Phe544Leu)
c.1626C>A (p.Phe542Leu)
c.1167C>A (p.Phe389Leu)
c.696C>A (p.Phe232Leu)
n.2128C>A
n.2295C>A
c.2043C>A (p.Phe681Leu)
c.735C>A (p.Phe245Leu)
n.2345C>A
n.2318C>A
8g.141168449C>GCA372344438DENND3c.2199C>G (p.Phe733Leu)
c.1959C>G (p.Phe653Leu)
c.1803C>G (p.Phe601Leu)
c.1972C>G
n.1740C>G
c.1998C>G (p.Phe666Leu)
c.1842C>G (p.Phe614Leu)
c.1965C>G (p.Phe655Leu)
c.1455C>G (p.Phe485Leu)
c.1632C>G (p.Phe544Leu)
c.1626C>G (p.Phe542Leu)
c.1167C>G (p.Phe389Leu)
c.696C>G (p.Phe232Leu)
n.2128C>G
n.2295C>G
c.2043C>G (p.Phe681Leu)
c.735C>G (p.Phe245Leu)
n.2345C>G
n.2318C>G
8g.141168449C>TCA463497027DENND3c.2199C>T (p.Phe733=)
c.1959C>T (p.Phe653=)
c.1803C>T (p.Phe601=)
c.1972C>T
n.1740C>T
c.1998C>T (p.Phe666=)
c.1842C>T (p.Phe614=)
c.1965C>T (p.Phe655=)
c.1455C>T (p.Phe485=)
c.1632C>T (p.Phe544=)
c.1626C>T (p.Phe542=)
c.1167C>T (p.Phe389=)
c.696C>T (p.Phe232=)
n.2128C>T
n.2295C>T
c.2043C>T (p.Phe681=)
c.735C>T (p.Phe245=)
n.2345C>T
n.2318C>T
8g.141168450A>CCA372344439DENND3c.2200A>C (p.Met734Leu)
c.1960A>C (p.Met654Leu)
c.1804A>C (p.Met602Leu)
c.1973A>C
n.1741A>C
c.1999A>C (p.Met667Leu)
c.1843A>C (p.Met615Leu)
c.1966A>C (p.Met656Leu)
c.1456A>C (p.Met486Leu)
c.1633A>C (p.Met545Leu)
c.1627A>C (p.Met543Leu)
c.1168A>C (p.Met390Leu)
c.697A>C (p.Met233Leu)
n.2129A>C
n.2296A>C
c.2044A>C (p.Met682Leu)
c.736A>C (p.Met246Leu)
n.2346A>C
n.2319A>C
 gnomAD v4
8g.141168450A>GCA372344440DENND3c.2200A>G (p.Met734Val)
c.1960A>G (p.Met654Val)
c.1804A>G (p.Met602Val)
c.1973A>G
n.1741A>G
c.1999A>G (p.Met667Val)
c.1843A>G (p.Met615Val)
c.1966A>G (p.Met656Val)
c.1456A>G (p.Met486Val)
c.1633A>G (p.Met545Val)
c.1627A>G (p.Met543Val)
c.1168A>G (p.Met390Val)
c.697A>G (p.Met233Val)
n.2129A>G
n.2296A>G
c.2044A>G (p.Met682Val)
c.736A>G (p.Met246Val)
n.2346A>G
n.2319A>G
 COSMIC
8g.141168450A>TCA372344441DENND3c.2200A>T (p.Met734Leu)
c.1960A>T (p.Met654Leu)
c.1804A>T (p.Met602Leu)
c.1973A>T
n.1741A>T
c.1999A>T (p.Met667Leu)
c.1843A>T (p.Met615Leu)
c.1966A>T (p.Met656Leu)
c.1456A>T (p.Met486Leu)
c.1633A>T (p.Met545Leu)
c.1627A>T (p.Met543Leu)
c.1168A>T (p.Met390Leu)
c.697A>T (p.Met233Leu)
n.2129A>T
n.2296A>T
c.2044A>T (p.Met682Leu)
c.736A>T (p.Met246Leu)
n.2346A>T
n.2319A>T
8g.141168450_141168451insCACCCATTCTCATTTTATTTCA2688780443DENND3c.2200_2201insCACCCATTCTCATTTTATTT (p.Met734ThrfsTer8)
c.1960_1961insCACCCATTCTCATTTTATTT (p.Met654ThrfsTer8)
c.1804_1805insCACCCATTCTCATTTTATTT (p.Met602ThrfsTer8)
c.1973_1974insCACCCATTCTCATTTTATTT
n.1741_1742insCACCCATTCTCATTTTATTT
c.1999_2000insCACCCATTCTCATTTTATTT (p.Met667ThrfsTer8)
c.1843_1844insCACCCATTCTCATTTTATTT (p.Met615ThrfsTer8)
c.1966_1967insCACCCATTCTCATTTTATTT (p.Met656ThrfsTer8)
c.1456_1457insCACCCATTCTCATTTTATTT (p.Met486ThrfsTer8)
c.1633_1634insCACCCATTCTCATTTTATTT (p.Met545ThrfsTer8)
c.1627_1628insCACCCATTCTCATTTTATTT (p.Met543ThrfsTer8)
c.1168_1169insCACCCATTCTCATTTTATTT (p.Met390ThrfsTer8)
c.697_698insCACCCATTCTCATTTTATTT (p.Met233ThrfsTer8)
n.2129_2130insCACCCATTCTCATTTTATTT
n.2296_2297insCACCCATTCTCATTTTATTT
c.2044_2045insCACCCATTCTCATTTTATTT (p.Met682ThrfsTer8)
c.736_737insCACCCATTCTCATTTTATTT (p.Met246ThrfsTer8)
n.2346_2347insCACCCATTCTCATTTTATTT
n.2319_2320insCACCCATTCTCATTTTATTT
 gnomAD v4
8g.141168451T>ACA372344442DENND3c.2201T>A (p.Met734Lys)
c.1961T>A (p.Met654Lys)
c.1805T>A (p.Met602Lys)
c.1974T>A
n.1742T>A
c.2000T>A (p.Met667Lys)
c.1844T>A (p.Met615Lys)
c.1967T>A (p.Met656Lys)
c.1457T>A (p.Met486Lys)
c.1634T>A (p.Met545Lys)
c.1628T>A (p.Met543Lys)
c.1169T>A (p.Met390Lys)
c.698T>A (p.Met233Lys)
n.2130T>A
n.2297T>A
c.2045T>A (p.Met682Lys)
c.737T>A (p.Met246Lys)
n.2347T>A
n.2320T>A
8g.141168451T>CCA372344443DENND3c.2201T>C (p.Met734Thr)
c.1961T>C (p.Met654Thr)
c.1805T>C (p.Met602Thr)
c.1974T>C
n.1742T>C
c.2000T>C (p.Met667Thr)
c.1844T>C (p.Met615Thr)
c.1967T>C (p.Met656Thr)
c.1457T>C (p.Met486Thr)
c.1634T>C (p.Met545Thr)
c.1628T>C (p.Met543Thr)
c.1169T>C (p.Met390Thr)
c.698T>C (p.Met233Thr)
n.2130T>C
n.2297T>C
c.2045T>C (p.Met682Thr)
c.737T>C (p.Met246Thr)
n.2347T>C
n.2320T>C
8g.141168451T>GCA372344444DENND3c.2201T>G (p.Met734Arg)
c.1961T>G (p.Met654Arg)
c.1805T>G (p.Met602Arg)
c.1974T>G
n.1742T>G
c.2000T>G (p.Met667Arg)
c.1844T>G (p.Met615Arg)
c.1967T>G (p.Met656Arg)
c.1457T>G (p.Met486Arg)
c.1634T>G (p.Met545Arg)
c.1628T>G (p.Met543Arg)
c.1169T>G (p.Met390Arg)
c.698T>G (p.Met233Arg)
n.2130T>G
n.2297T>G
c.2045T>G (p.Met682Arg)
c.737T>G (p.Met246Arg)
n.2347T>G
n.2320T>G
8g.141168452G>ACA372344445DENND3c.2202G>A (p.Met734Ile)
c.1962G>A (p.Met654Ile)
c.1806G>A (p.Met602Ile)
c.1975G>A
n.1743G>A
c.2001G>A (p.Met667Ile)
c.1845G>A (p.Met615Ile)
c.1968G>A (p.Met656Ile)
c.1458G>A (p.Met486Ile)
c.1635G>A (p.Met545Ile)
c.1629G>A (p.Met543Ile)
c.1170G>A (p.Met390Ile)
c.699G>A (p.Met233Ile)
n.2131G>A
n.2298G>A
c.2046G>A (p.Met682Ile)
c.738G>A (p.Met246Ile)
n.2348G>A
n.2321G>A
8g.141168452G>CCA372344446DENND3c.2202G>C (p.Met734Ile)
c.1962G>C (p.Met654Ile)
c.1806G>C (p.Met602Ile)
c.1975G>C
n.1743G>C
c.2001G>C (p.Met667Ile)
c.1845G>C (p.Met615Ile)
c.1968G>C (p.Met656Ile)
c.1458G>C (p.Met486Ile)
c.1635G>C (p.Met545Ile)
c.1629G>C (p.Met543Ile)
c.1170G>C (p.Met390Ile)
c.699G>C (p.Met233Ile)
n.2131G>C
n.2298G>C
c.2046G>C (p.Met682Ile)
c.738G>C (p.Met246Ile)
n.2348G>C
n.2321G>C
8g.141168452G>TCA372344447DENND3c.2202G>T (p.Met734Ile)
c.1962G>T (p.Met654Ile)
c.1806G>T (p.Met602Ile)
c.1975G>T
n.1743G>T
c.2001G>T (p.Met667Ile)
c.1845G>T (p.Met615Ile)
c.1968G>T (p.Met656Ile)
c.1458G>T (p.Met486Ile)
c.1635G>T (p.Met545Ile)
c.1629G>T (p.Met543Ile)
c.1170G>T (p.Met390Ile)
c.699G>T (p.Met233Ile)
n.2131G>T
n.2298G>T
c.2046G>T (p.Met682Ile)
c.738G>T (p.Met246Ile)
n.2348G>T
n.2321G>T
8g.141168453A>CCA372344448DENND3c.2203A>C (p.Lys735Gln)
c.1963A>C (p.Lys655Gln)
c.1807A>C (p.Lys603Gln)
c.1976A>C
n.1744A>C
c.2002A>C (p.Lys668Gln)
c.1846A>C (p.Lys616Gln)
c.1969A>C (p.Lys657Gln)
c.1459A>C (p.Lys487Gln)
c.1636A>C (p.Lys546Gln)
c.1630A>C (p.Lys544Gln)
c.1171A>C (p.Lys391Gln)
c.700A>C (p.Lys234Gln)
n.2132A>C
n.2299A>C
c.2047A>C (p.Lys683Gln)
c.739A>C (p.Lys247Gln)
n.2349A>C
n.2322A>C
8g.141168453A>GCA372344449DENND3c.2203A>G (p.Lys735Glu)
c.1963A>G (p.Lys655Glu)
c.1807A>G (p.Lys603Glu)
c.1976A>G
n.1744A>G
c.2002A>G (p.Lys668Glu)
c.1846A>G (p.Lys616Glu)
c.1969A>G (p.Lys657Glu)
c.1459A>G (p.Lys487Glu)
c.1636A>G (p.Lys546Glu)
c.1630A>G (p.Lys544Glu)
c.1171A>G (p.Lys391Glu)
c.700A>G (p.Lys234Glu)
n.2132A>G
n.2299A>G
c.2047A>G (p.Lys683Glu)
c.739A>G (p.Lys247Glu)
n.2349A>G
n.2322A>G
 gnomAD v4
8g.141168453A>TCA372344450DENND3c.2203A>T (p.Lys735Ter)
c.1963A>T (p.Lys655Ter)
c.1807A>T (p.Lys603Ter)
c.1976A>T
n.1744A>T
c.2002A>T (p.Lys668Ter)
c.1846A>T (p.Lys616Ter)
c.1969A>T (p.Lys657Ter)
c.1459A>T (p.Lys487Ter)
c.1636A>T (p.Lys546Ter)
c.1630A>T (p.Lys544Ter)
c.1171A>T (p.Lys391Ter)
c.700A>T (p.Lys234Ter)
n.2132A>T
n.2299A>T
c.2047A>T (p.Lys683Ter)
c.739A>T (p.Lys247Ter)
n.2349A>T
n.2322A>T
8g.141168454A>CCA372344452DENND3c.2204A>C (p.Lys735Thr)
c.1964A>C (p.Lys655Thr)
c.1808A>C (p.Lys603Thr)
c.1977A>C
n.1745A>C
c.2003A>C (p.Lys668Thr)
c.1847A>C (p.Lys616Thr)
c.1970A>C (p.Lys657Thr)
c.1460A>C (p.Lys487Thr)
c.1637A>C (p.Lys546Thr)
c.1631A>C (p.Lys544Thr)
c.1172A>C (p.Lys391Thr)
c.701A>C (p.Lys234Thr)
n.2133A>C
n.2300A>C
c.2048A>C (p.Lys683Thr)
c.740A>C (p.Lys247Thr)
n.2350A>C
n.2323A>C
8g.141168454A>GCA372344453DENND3c.2204A>G (p.Lys735Arg)
c.1964A>G (p.Lys655Arg)
c.1808A>G (p.Lys603Arg)
c.1977A>G
n.1745A>G
c.2003A>G (p.Lys668Arg)
c.1847A>G (p.Lys616Arg)
c.1970A>G (p.Lys657Arg)
c.1460A>G (p.Lys487Arg)
c.1637A>G (p.Lys546Arg)
c.1631A>G (p.Lys544Arg)
c.1172A>G (p.Lys391Arg)
c.701A>G (p.Lys234Arg)
n.2133A>G
n.2300A>G
c.2048A>G (p.Lys683Arg)
c.740A>G (p.Lys247Arg)
n.2350A>G
n.2323A>G
8g.141168454A>TCA372344451DENND3c.2204A>T (p.Lys735Met)
c.1964A>T (p.Lys655Met)
c.1808A>T (p.Lys603Met)
c.1977A>T
n.1745A>T
c.2003A>T (p.Lys668Met)
c.1847A>T (p.Lys616Met)
c.1970A>T (p.Lys657Met)
c.1460A>T (p.Lys487Met)
c.1637A>T (p.Lys546Met)
c.1631A>T (p.Lys544Met)
c.1172A>T (p.Lys391Met)
c.701A>T (p.Lys234Met)
n.2133A>T
n.2300A>T
c.2048A>T (p.Lys683Met)
c.740A>T (p.Lys247Met)
n.2350A>T
n.2323A>T
8g.141168455G>ACA463497032DENND3c.2205G>A (p.Lys735=)
c.1965G>A (p.Lys655=)
c.1809G>A (p.Lys603=)
c.1978G>A
n.1746G>A
c.2004G>A (p.Lys668=)
c.1848G>A (p.Lys616=)
c.1971G>A (p.Lys657=)
c.1461G>A (p.Lys487=)
c.1638G>A (p.Lys546=)
c.1632G>A (p.Lys544=)
c.1173G>A (p.Lys391=)
c.702G>A (p.Lys234=)
n.2134G>A
n.2301G>A
c.2049G>A (p.Lys683=)
c.741G>A (p.Lys247=)
n.2351G>A
n.2324G>A
8g.141168455G>CCA372344454DENND3c.2205G>C (p.Lys735Asn)
c.1965G>C (p.Lys655Asn)
c.1809G>C (p.Lys603Asn)
c.1978G>C
n.1746G>C
c.2004G>C (p.Lys668Asn)
c.1848G>C (p.Lys616Asn)
c.1971G>C (p.Lys657Asn)
c.1461G>C (p.Lys487Asn)
c.1638G>C (p.Lys546Asn)
c.1632G>C (p.Lys544Asn)
c.1173G>C (p.Lys391Asn)
c.702G>C (p.Lys234Asn)
n.2134G>C
n.2301G>C
c.2049G>C (p.Lys683Asn)
c.741G>C (p.Lys247Asn)
n.2351G>C
n.2324G>C
8g.141168455G>TCA372344455DENND3c.2205G>T (p.Lys735Asn)
c.1965G>T (p.Lys655Asn)
c.1809G>T (p.Lys603Asn)
c.1978G>T
n.1746G>T
c.2004G>T (p.Lys668Asn)
c.1848G>T (p.Lys616Asn)
c.1971G>T (p.Lys657Asn)
c.1461G>T (p.Lys487Asn)
c.1638G>T (p.Lys546Asn)
c.1632G>T (p.Lys544Asn)
c.1173G>T (p.Lys391Asn)
c.702G>T (p.Lys234Asn)
n.2134G>T
n.2301G>T
c.2049G>T (p.Lys683Asn)
c.741G>T (p.Lys247Asn)
n.2351G>T
n.2324G>T
8g.141168456C>ACA463497034DENND3c.2206C>A (p.Arg736=)
c.1966C>A (p.Arg656=)
c.1810C>A (p.Arg604=)
c.1979C>A
n.1747C>A
c.2005C>A (p.Arg669=)
c.1849C>A (p.Arg617=)
c.1972C>A (p.Arg658=)
c.1462C>A (p.Arg488=)
c.1639C>A (p.Arg547=)
c.1633C>A (p.Arg545=)
c.1174C>A (p.Arg392=)
c.703C>A (p.Arg235=)
n.2135C>A
n.2302C>A
c.2050C>A (p.Arg684=)
c.742C>A (p.Arg248=)
n.2352C>A
n.2325C>A
 gnomAD v4
8g.141168456C>GCA372344456DENND3c.2206C>G (p.Arg736Gly)
c.1966C>G (p.Arg656Gly)
c.1810C>G (p.Arg604Gly)
c.1979C>G
n.1747C>G
c.2005C>G (p.Arg669Gly)
c.1849C>G (p.Arg617Gly)
c.1972C>G (p.Arg658Gly)
c.1462C>G (p.Arg488Gly)
c.1639C>G (p.Arg547Gly)
c.1633C>G (p.Arg545Gly)
c.1174C>G (p.Arg392Gly)
c.703C>G (p.Arg235Gly)
n.2135C>G
n.2302C>G
c.2050C>G (p.Arg684Gly)
c.742C>G (p.Arg248Gly)
n.2352C>G
n.2325C>G
 gnomAD v4
8g.141168456C>TCA4896830DENND3c.2206C>T (p.Arg736Trp)
c.1966C>T (p.Arg656Trp)
c.1810C>T (p.Arg604Trp)
c.1979C>T
n.1747C>T
c.2005C>T (p.Arg669Trp)
c.1849C>T (p.Arg617Trp)
c.1972C>T (p.Arg658Trp)
c.1462C>T (p.Arg488Trp)
c.1639C>T (p.Arg547Trp)
c.1633C>T (p.Arg545Trp)
c.1174C>T (p.Arg392Trp)
c.703C>T (p.Arg235Trp)
n.2135C>T
n.2302C>T
c.2050C>T (p.Arg684Trp)
c.742C>T (p.Arg248Trp)
n.2352C>T
n.2325C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.141168457G>ACA187325866DENND3c.2207G>A (p.Arg736Gln)
c.1967G>A (p.Arg656Gln)
c.1811G>A (p.Arg604Gln)
c.1980G>A
n.1748G>A
c.2006G>A (p.Arg669Gln)
c.1850G>A (p.Arg617Gln)
c.1973G>A (p.Arg658Gln)
c.1463G>A (p.Arg488Gln)
c.1640G>A (p.Arg547Gln)
c.1634G>A (p.Arg545Gln)
c.1175G>A (p.Arg392Gln)
c.704G>A (p.Arg235Gln)
n.2136G>A
n.2303G>A
c.2051G>A (p.Arg684Gln)
c.743G>A (p.Arg248Gln)
n.2353G>A
n.2326G>A
 dbSNP gnomAD v4
8g.141168457G>CCA372344457DENND3c.2207G>C (p.Arg736Pro)
c.1967G>C (p.Arg656Pro)
c.1811G>C (p.Arg604Pro)
c.1980G>C
n.1748G>C
c.2006G>C (p.Arg669Pro)
c.1850G>C (p.Arg617Pro)
c.1973G>C (p.Arg658Pro)
c.1463G>C (p.Arg488Pro)
c.1640G>C (p.Arg547Pro)
c.1634G>C (p.Arg545Pro)
c.1175G>C (p.Arg392Pro)
c.704G>C (p.Arg235Pro)
n.2136G>C
n.2303G>C
c.2051G>C (p.Arg684Pro)
c.743G>C (p.Arg248Pro)
n.2353G>C
n.2326G>C
8g.141168457G>TCA372344458DENND3c.2207G>T (p.Arg736Leu)
c.1967G>T (p.Arg656Leu)
c.1811G>T (p.Arg604Leu)
c.1980G>T
n.1748G>T
c.2006G>T (p.Arg669Leu)
c.1850G>T (p.Arg617Leu)
c.1973G>T (p.Arg658Leu)
c.1463G>T (p.Arg488Leu)
c.1640G>T (p.Arg547Leu)
c.1634G>T (p.Arg545Leu)
c.1175G>T (p.Arg392Leu)
c.704G>T (p.Arg235Leu)
n.2136G>T
n.2303G>T
c.2051G>T (p.Arg684Leu)
c.743G>T (p.Arg248Leu)
n.2353G>T
n.2326G>T
 dbSNP
8g.141168458G>ACA463497035DENND3c.2208G>A (p.Arg736=)
c.1968G>A (p.Arg656=)
c.1812G>A (p.Arg604=)
c.1981G>A
n.1749G>A
c.2007G>A (p.Arg669=)
c.1851G>A (p.Arg617=)
c.1974G>A (p.Arg658=)
c.1464G>A (p.Arg488=)
c.1641G>A (p.Arg547=)
c.1635G>A (p.Arg545=)
c.1176G>A (p.Arg392=)
c.705G>A (p.Arg235=)
n.2137G>A
n.2304G>A
c.2052G>A (p.Arg684=)
c.744G>A (p.Arg248=)
n.2354G>A
n.2327G>A
8g.141168458G>CCA463497036DENND3c.2208G>C (p.Arg736=)
c.1968G>C (p.Arg656=)
c.1812G>C (p.Arg604=)
c.1981G>C
n.1749G>C
c.2007G>C (p.Arg669=)
c.1851G>C (p.Arg617=)
c.1974G>C (p.Arg658=)
c.1464G>C (p.Arg488=)
c.1641G>C (p.Arg547=)
c.1635G>C (p.Arg545=)
c.1176G>C (p.Arg392=)
c.705G>C (p.Arg235=)
n.2137G>C
n.2304G>C
c.2052G>C (p.Arg684=)
c.744G>C (p.Arg248=)
n.2354G>C
n.2327G>C
8g.141168458G>TCA463497038DENND3c.2208G>T (p.Arg736=)
c.1968G>T (p.Arg656=)
c.1812G>T (p.Arg604=)
c.1981G>T
n.1749G>T
c.2007G>T (p.Arg669=)
c.1851G>T (p.Arg617=)
c.1974G>T (p.Arg658=)
c.1464G>T (p.Arg488=)
c.1641G>T (p.Arg547=)
c.1635G>T (p.Arg545=)
c.1176G>T (p.Arg392=)
c.705G>T (p.Arg235=)
n.2137G>T
n.2304G>T
c.2052G>T (p.Arg684=)
c.744G>T (p.Arg248=)
n.2354G>T
n.2327G>T
8g.141168459G>ACA372344459DENND3c.2209G>A (p.Val737Ile)
c.1969G>A (p.Val657Ile)
c.1813G>A (p.Val605Ile)
c.1982G>A
n.1750G>A
c.2008G>A (p.Val670Ile)
c.1852G>A (p.Val618Ile)
c.1975G>A (p.Val659Ile)
c.1465G>A (p.Val489Ile)
c.1642G>A (p.Val548Ile)
c.1636G>A (p.Val546Ile)
c.1177G>A (p.Val393Ile)
c.706G>A (p.Val236Ile)
n.2138G>A
n.2305G>A
c.2053G>A (p.Val685Ile)
c.745G>A (p.Val249Ile)
n.2355G>A
n.2328G>A
 dbSNP gnomAD v4
8g.141168459G>CCA372344460DENND3c.2209G>C (p.Val737Leu)
c.1969G>C (p.Val657Leu)
c.1813G>C (p.Val605Leu)
c.1982G>C
n.1750G>C
c.2008G>C (p.Val670Leu)
c.1852G>C (p.Val618Leu)
c.1975G>C (p.Val659Leu)
c.1465G>C (p.Val489Leu)
c.1642G>C (p.Val548Leu)
c.1636G>C (p.Val546Leu)
c.1177G>C (p.Val393Leu)
c.706G>C (p.Val236Leu)
n.2138G>C
n.2305G>C
c.2053G>C (p.Val685Leu)
c.745G>C (p.Val249Leu)
n.2355G>C
n.2328G>C
8g.141168459G>TCA372344461DENND3c.2209G>T (p.Val737Phe)
c.1969G>T (p.Val657Phe)
c.1813G>T (p.Val605Phe)
c.1982G>T
n.1750G>T
c.2008G>T (p.Val670Phe)
c.1852G>T (p.Val618Phe)
c.1975G>T (p.Val659Phe)
c.1465G>T (p.Val489Phe)
c.1642G>T (p.Val548Phe)
c.1636G>T (p.Val546Phe)
c.1177G>T (p.Val393Phe)
c.706G>T (p.Val236Phe)
n.2138G>T
n.2305G>T
c.2053G>T (p.Val685Phe)
c.745G>T (p.Val249Phe)
n.2355G>T
n.2328G>T
 dbSNP gnomAD v2 gnomAD v4
8g.141168460T>ACA372344462DENND3c.2210T>A (p.Val737Asp)
c.1970T>A (p.Val657Asp)
c.1814T>A (p.Val605Asp)
c.1983T>A
n.1751T>A
c.2009T>A (p.Val670Asp)
c.1853T>A (p.Val618Asp)
c.1976T>A (p.Val659Asp)
c.1466T>A (p.Val489Asp)
c.1643T>A (p.Val548Asp)
c.1637T>A (p.Val546Asp)
c.1178T>A (p.Val393Asp)
c.707T>A (p.Val236Asp)
n.2139T>A
n.2306T>A
c.2054T>A (p.Val685Asp)
c.746T>A (p.Val249Asp)
n.2356T>A
n.2329T>A
8g.141168460T>CCA372344463DENND3c.2210T>C (p.Val737Ala)
c.1970T>C (p.Val657Ala)
c.1814T>C (p.Val605Ala)
c.1983T>C
n.1751T>C
c.2009T>C (p.Val670Ala)
c.1853T>C (p.Val618Ala)
c.1976T>C (p.Val659Ala)
c.1466T>C (p.Val489Ala)
c.1643T>C (p.Val548Ala)
c.1637T>C (p.Val546Ala)
c.1178T>C (p.Val393Ala)
c.707T>C (p.Val236Ala)
n.2139T>C
n.2306T>C
c.2054T>C (p.Val685Ala)
c.746T>C (p.Val249Ala)
n.2356T>C
n.2329T>C
 gnomAD v4
8g.141168460T>GCA372344464DENND3c.2210T>G (p.Val737Gly)
c.1970T>G (p.Val657Gly)
c.1814T>G (p.Val605Gly)
c.1983T>G
n.1751T>G
c.2009T>G (p.Val670Gly)
c.1853T>G (p.Val618Gly)
c.1976T>G (p.Val659Gly)
c.1466T>G (p.Val489Gly)
c.1643T>G (p.Val548Gly)
c.1637T>G (p.Val546Gly)
c.1178T>G (p.Val393Gly)
c.707T>G (p.Val236Gly)
n.2139T>G
n.2306T>G
c.2054T>G (p.Val685Gly)
c.746T>G (p.Val249Gly)
n.2356T>G
n.2329T>G
8g.141168461C>ACA463497044DENND3c.2211C>A (p.Val737=)
c.1971C>A (p.Val657=)
c.1815C>A (p.Val605=)
c.1984C>A
n.1752C>A
c.2010C>A (p.Val670=)
c.1854C>A (p.Val618=)
c.1977C>A (p.Val659=)
c.1467C>A (p.Val489=)
c.1644C>A (p.Val548=)
c.1638C>A (p.Val546=)
c.1179C>A (p.Val393=)
c.708C>A (p.Val236=)
n.2140C>A
n.2307C>A
c.2055C>A (p.Val685=)
c.747C>A (p.Val249=)
n.2357C>A
n.2330C>A
8g.141168461C>GCA463497045DENND3c.2211C>G (p.Val737=)
c.1971C>G (p.Val657=)
c.1815C>G (p.Val605=)
c.1984C>G
n.1752C>G
c.2010C>G (p.Val670=)
c.1854C>G (p.Val618=)
c.1977C>G (p.Val659=)
c.1467C>G (p.Val489=)
c.1644C>G (p.Val548=)
c.1638C>G (p.Val546=)
c.1179C>G (p.Val393=)
c.708C>G (p.Val236=)
n.2140C>G
n.2307C>G
c.2055C>G (p.Val685=)
c.747C>G (p.Val249=)
n.2357C>G
n.2330C>G
8g.141168461C>TCA463497042DENND3c.2211C>T (p.Val737=)
c.1971C>T (p.Val657=)
c.1815C>T (p.Val605=)
c.1984C>T
n.1752C>T
c.2010C>T (p.Val670=)
c.1854C>T (p.Val618=)
c.1977C>T (p.Val659=)
c.1467C>T (p.Val489=)
c.1644C>T (p.Val548=)
c.1638C>T (p.Val546=)
c.1179C>T (p.Val393=)
c.708C>T (p.Val236=)
n.2140C>T
n.2307C>T
c.2055C>T (p.Val685=)
c.747C>T (p.Val249=)
n.2357C>T
n.2330C>T
8g.141168462C>ACA372344467DENND3c.2212C>A (p.Gln738Lys)
c.1972C>A (p.Gln658Lys)
c.1816C>A (p.Gln606Lys)
c.1985C>A
n.1753C>A
c.2011C>A (p.Gln671Lys)
c.1855C>A (p.Gln619Lys)
c.1978C>A (p.Gln660Lys)
c.1468C>A (p.Gln490Lys)
c.1645C>A (p.Gln549Lys)
c.1639C>A (p.Gln547Lys)
c.1180C>A (p.Gln394Lys)
c.709C>A (p.Gln237Lys)
n.2141C>A
n.2308C>A
c.2056C>A (p.Gln686Lys)
c.748C>A (p.Gln250Lys)
n.2358C>A
n.2331C>A
8g.141168462C>GCA372344465DENND3c.2212C>G (p.Gln738Glu)
c.1972C>G (p.Gln658Glu)
c.1816C>G (p.Gln606Glu)
c.1985C>G
n.1753C>G
c.2011C>G (p.Gln671Glu)
c.1855C>G (p.Gln619Glu)
c.1978C>G (p.Gln660Glu)
c.1468C>G (p.Gln490Glu)
c.1645C>G (p.Gln549Glu)
c.1639C>G (p.Gln547Glu)
c.1180C>G (p.Gln394Glu)
c.709C>G (p.Gln237Glu)
n.2141C>G
n.2308C>G
c.2056C>G (p.Gln686Glu)
c.748C>G (p.Gln250Glu)
n.2358C>G
n.2331C>G
8g.141168462C>TCA372344466DENND3c.2212C>T (p.Gln738Ter)
c.1972C>T (p.Gln658Ter)
c.1816C>T (p.Gln606Ter)
c.1985C>T
n.1753C>T
c.2011C>T (p.Gln671Ter)
c.1855C>T (p.Gln619Ter)
c.1978C>T (p.Gln660Ter)
c.1468C>T (p.Gln490Ter)
c.1645C>T (p.Gln549Ter)
c.1639C>T (p.Gln547Ter)
c.1180C>T (p.Gln394Ter)
c.709C>T (p.Gln237Ter)
n.2141C>T
n.2308C>T
c.2056C>T (p.Gln686Ter)
c.748C>T (p.Gln250Ter)
n.2358C>T
n.2331C>T
8g.141168463A>CCA372344468DENND3c.2213A>C (p.Gln738Pro)
c.1973A>C (p.Gln658Pro)
c.1817A>C (p.Gln606Pro)
c.1986A>C
n.1754A>C
c.2012A>C (p.Gln671Pro)
c.1856A>C (p.Gln619Pro)
c.1979A>C (p.Gln660Pro)
c.1469A>C (p.Gln490Pro)
c.1646A>C (p.Gln549Pro)
c.1640A>C (p.Gln547Pro)
c.1181A>C (p.Gln394Pro)
c.710A>C (p.Gln237Pro)
n.2142A>C
n.2309A>C
c.2057A>C (p.Gln686Pro)
c.749A>C (p.Gln250Pro)
n.2359A>C
n.2332A>C
 gnomAD v4
8g.141168463A>GCA372344470DENND3c.2213A>G (p.Gln738Arg)
c.1973A>G (p.Gln658Arg)
c.1817A>G (p.Gln606Arg)
c.1986A>G
n.1754A>G
c.2012A>G (p.Gln671Arg)
c.1856A>G (p.Gln619Arg)
c.1979A>G (p.Gln660Arg)
c.1469A>G (p.Gln490Arg)
c.1646A>G (p.Gln549Arg)
c.1640A>G (p.Gln547Arg)
c.1181A>G (p.Gln394Arg)
c.710A>G (p.Gln237Arg)
n.2142A>G
n.2309A>G
c.2057A>G (p.Gln686Arg)
c.749A>G (p.Gln250Arg)
n.2359A>G
n.2332A>G
8g.141168463A>TCA372344477DENND3c.2213A>T (p.Gln738Leu)
c.1973A>T (p.Gln658Leu)
c.1817A>T (p.Gln606Leu)
c.1986A>T
n.1754A>T
c.2012A>T (p.Gln671Leu)
c.1856A>T (p.Gln619Leu)
c.1979A>T (p.Gln660Leu)
c.1469A>T (p.Gln490Leu)
c.1646A>T (p.Gln549Leu)
c.1640A>T (p.Gln547Leu)
c.1181A>T (p.Gln394Leu)
c.710A>T (p.Gln237Leu)
n.2142A>T
n.2309A>T
c.2057A>T (p.Gln686Leu)
c.749A>T (p.Gln250Leu)
n.2359A>T
n.2332A>T
8g.141168464G>ACA463497049DENND3c.2214G>A (p.Gln738=)
c.1974G>A (p.Gln658=)
c.1818G>A (p.Gln606=)
c.1987G>A
n.1755G>A
c.2013G>A (p.Gln671=)
c.1857G>A (p.Gln619=)
c.1980G>A (p.Gln660=)
c.1470G>A (p.Gln490=)
c.1647G>A (p.Gln549=)
c.1641G>A (p.Gln547=)
c.1182G>A (p.Gln394=)
c.711G>A (p.Gln237=)
n.2143G>A
n.2310G>A
c.2058G>A (p.Gln686=)
c.750G>A (p.Gln250=)
n.2360G>A
n.2333G>A
 gnomAD v4
8g.141168464G>CCA372344479DENND3c.2214G>C (p.Gln738His)
c.1974G>C (p.Gln658His)
c.1818G>C (p.Gln606His)
c.1987G>C
n.1755G>C
c.2013G>C (p.Gln671His)
c.1857G>C (p.Gln619His)
c.1980G>C (p.Gln660His)
c.1470G>C (p.Gln490His)
c.1647G>C (p.Gln549His)
c.1641G>C (p.Gln547His)
c.1182G>C (p.Gln394His)
c.711G>C (p.Gln237His)
n.2143G>C
n.2310G>C
c.2058G>C (p.Gln686His)
c.750G>C (p.Gln250His)
n.2360G>C
n.2333G>C
8g.141168464G>TCA372344481DENND3c.2214G>T (p.Gln738His)
c.1974G>T (p.Gln658His)
c.1818G>T (p.Gln606His)
c.1987G>T
n.1755G>T
c.2013G>T (p.Gln671His)
c.1857G>T (p.Gln619His)
c.1980G>T (p.Gln660His)
c.1470G>T (p.Gln490His)
c.1647G>T (p.Gln549His)
c.1641G>T (p.Gln547His)
c.1182G>T (p.Gln394His)
c.711G>T (p.Gln237His)
n.2143G>T
n.2310G>T
c.2058G>T (p.Gln686His)
c.750G>T (p.Gln250His)
n.2360G>T
n.2333G>T
8g.141168465G>ACA372344483DENND3c.2215G>A (p.Glu739Lys)
c.1975G>A (p.Glu659Lys)
c.1819G>A (p.Glu607Lys)
c.1988G>A
n.1756G>A
c.2014G>A (p.Glu672Lys)
c.1858G>A (p.Glu620Lys)
c.1981G>A (p.Glu661Lys)
c.1471G>A (p.Glu491Lys)
c.1648G>A (p.Glu550Lys)
c.1642G>A (p.Glu548Lys)
c.1183G>A (p.Glu395Lys)
c.712G>A (p.Glu238Lys)
n.2144G>A
n.2311G>A
c.2059G>A (p.Glu687Lys)
c.751G>A (p.Glu251Lys)
n.2361G>A
n.2334G>A
8g.141168465G>CCA372344485DENND3c.2215G>C (p.Glu739Gln)
c.1975G>C (p.Glu659Gln)
c.1819G>C (p.Glu607Gln)
c.1988G>C
n.1756G>C
c.2014G>C (p.Glu672Gln)
c.1858G>C (p.Glu620Gln)
c.1981G>C (p.Glu661Gln)
c.1471G>C (p.Glu491Gln)
c.1648G>C (p.Glu550Gln)
c.1642G>C (p.Glu548Gln)
c.1183G>C (p.Glu395Gln)
c.712G>C (p.Glu238Gln)
n.2144G>C
n.2311G>C
c.2059G>C (p.Glu687Gln)
c.751G>C (p.Glu251Gln)
n.2361G>C
n.2334G>C
8g.141168465G>TCA372344487DENND3c.2215G>T (p.Glu739Ter)
c.1975G>T (p.Glu659Ter)
c.1819G>T (p.Glu607Ter)
c.1988G>T
n.1756G>T
c.2014G>T (p.Glu672Ter)
c.1858G>T (p.Glu620Ter)
c.1981G>T (p.Glu661Ter)
c.1471G>T (p.Glu491Ter)
c.1648G>T (p.Glu550Ter)
c.1642G>T (p.Glu548Ter)
c.1183G>T (p.Glu395Ter)
c.712G>T (p.Glu238Ter)
n.2144G>T
n.2311G>T
c.2059G>T (p.Glu687Ter)
c.751G>T (p.Glu251Ter)
n.2361G>T
n.2334G>T
8g.141168466A>CCA372344489DENND3c.2216A>C (p.Glu739Ala)
c.1976A>C (p.Glu659Ala)
c.1820A>C (p.Glu607Ala)
c.1989A>C
n.1757A>C
c.2015A>C (p.Glu672Ala)
c.1859A>C (p.Glu620Ala)
c.1982A>C (p.Glu661Ala)
c.1472A>C (p.Glu491Ala)
c.1649A>C (p.Glu550Ala)
c.1643A>C (p.Glu548Ala)
c.1184A>C (p.Glu395Ala)
c.713A>C (p.Glu238Ala)
n.2145A>C
n.2312A>C
c.2060A>C (p.Glu687Ala)
c.752A>C (p.Glu251Ala)
n.2362A>C
n.2335A>C
8g.141168466A>GCA372344491DENND3c.2216A>G (p.Glu739Gly)
c.1976A>G (p.Glu659Gly)
c.1820A>G (p.Glu607Gly)
c.1989A>G
n.1757A>G
c.2015A>G (p.Glu672Gly)
c.1859A>G (p.Glu620Gly)
c.1982A>G (p.Glu661Gly)
c.1472A>G (p.Glu491Gly)
c.1649A>G (p.Glu550Gly)
c.1643A>G (p.Glu548Gly)
c.1184A>G (p.Glu395Gly)
c.713A>G (p.Glu238Gly)
n.2145A>G
n.2312A>G
c.2060A>G (p.Glu687Gly)
c.752A>G (p.Glu251Gly)
n.2362A>G
n.2335A>G
8g.141168466A>TCA372344493DENND3c.2216A>T (p.Glu739Val)
c.1976A>T (p.Glu659Val)
c.1820A>T (p.Glu607Val)
c.1989A>T
n.1757A>T
c.2015A>T (p.Glu672Val)
c.1859A>T (p.Glu620Val)
c.1982A>T (p.Glu661Val)
c.1472A>T (p.Glu491Val)
c.1649A>T (p.Glu550Val)
c.1643A>T (p.Glu548Val)
c.1184A>T (p.Glu395Val)
c.713A>T (p.Glu238Val)
n.2145A>T
n.2312A>T
c.2060A>T (p.Glu687Val)
c.752A>T (p.Glu251Val)
n.2362A>T
n.2335A>T
8g.141168467G>ACA463497051DENND3c.2217G>A (p.Glu739=)
c.1977G>A (p.Glu659=)
c.1821G>A (p.Glu607=)
c.1990G>A
n.1758G>A
c.2016G>A (p.Glu672=)
c.1860G>A (p.Glu620=)
c.1983G>A (p.Glu661=)
c.1473G>A (p.Glu491=)
c.1650G>A (p.Glu550=)
c.1644G>A (p.Glu548=)
c.1185G>A (p.Glu395=)
c.714G>A (p.Glu238=)
n.2146G>A
n.2313G>A
c.2061G>A (p.Glu687=)
c.753G>A (p.Glu251=)
n.2363G>A
n.2336G>A
8g.141168467G>CCA372344495DENND3c.2217G>C (p.Glu739Asp)
c.1977G>C (p.Glu659Asp)
c.1821G>C (p.Glu607Asp)
c.1990G>C
n.1758G>C
c.2016G>C (p.Glu672Asp)
c.1860G>C (p.Glu620Asp)
c.1983G>C (p.Glu661Asp)
c.1473G>C (p.Glu491Asp)
c.1650G>C (p.Glu550Asp)
c.1644G>C (p.Glu548Asp)
c.1185G>C (p.Glu395Asp)
c.714G>C (p.Glu238Asp)
n.2146G>C
n.2313G>C
c.2061G>C (p.Glu687Asp)
c.753G>C (p.Glu251Asp)
n.2363G>C
n.2336G>C
8g.141168467G>TCA372344497DENND3c.2217G>T (p.Glu739Asp)
c.1977G>T (p.Glu659Asp)
c.1821G>T (p.Glu607Asp)
c.1990G>T
n.1758G>T
c.2016G>T (p.Glu672Asp)
c.1860G>T (p.Glu620Asp)
c.1983G>T (p.Glu661Asp)
c.1473G>T (p.Glu491Asp)
c.1650G>T (p.Glu550Asp)
c.1644G>T (p.Glu548Asp)
c.1185G>T (p.Glu395Asp)
c.714G>T (p.Glu238Asp)
n.2146G>T
n.2313G>T
c.2061G>T (p.Glu687Asp)
c.753G>T (p.Glu251Asp)
n.2363G>T
n.2336G>T
8g.141168468T>ACA372344501DENND3c.2218T>A (p.Ser740Thr)
c.1978T>A (p.Ser660Thr)
c.1822T>A (p.Ser608Thr)
c.1991T>A
n.1759T>A
c.2017T>A (p.Ser673Thr)
c.1861T>A (p.Ser621Thr)
c.1984T>A (p.Ser662Thr)
c.1474T>A (p.Ser492Thr)
c.1651T>A (p.Ser551Thr)
c.1645T>A (p.Ser549Thr)
c.1186T>A (p.Ser396Thr)
c.715T>A (p.Ser239Thr)
n.2147T>A
n.2314T>A
c.2062T>A (p.Ser688Thr)
c.754T>A (p.Ser252Thr)
n.2364T>A
n.2337T>A
8g.141168468T>CCA372344502DENND3c.2218T>C (p.Ser740Pro)
c.1978T>C (p.Ser660Pro)
c.1822T>C (p.Ser608Pro)
c.1991T>C
n.1759T>C
c.2017T>C (p.Ser673Pro)
c.1861T>C (p.Ser621Pro)
c.1984T>C (p.Ser662Pro)
c.1474T>C (p.Ser492Pro)
c.1651T>C (p.Ser551Pro)
c.1645T>C (p.Ser549Pro)
c.1186T>C (p.Ser396Pro)
c.715T>C (p.Ser239Pro)
n.2147T>C
n.2314T>C
c.2062T>C (p.Ser688Pro)
c.754T>C (p.Ser252Pro)
n.2364T>C
n.2337T>C
8g.141168468T>GCA372344499DENND3c.2218T>G (p.Ser740Ala)
c.1978T>G (p.Ser660Ala)
c.1822T>G (p.Ser608Ala)
c.1991T>G
n.1759T>G
c.2017T>G (p.Ser673Ala)
c.1861T>G (p.Ser621Ala)
c.1984T>G (p.Ser662Ala)
c.1474T>G (p.Ser492Ala)
c.1651T>G (p.Ser551Ala)
c.1645T>G (p.Ser549Ala)
c.1186T>G (p.Ser396Ala)
c.715T>G (p.Ser239Ala)
n.2147T>G
n.2314T>G
c.2062T>G (p.Ser688Ala)
c.754T>G (p.Ser252Ala)
n.2364T>G
n.2337T>G
8g.141168469C>ACA372344506DENND3c.2219C>A (p.Ser740Ter)
c.1979C>A (p.Ser660Ter)
c.1823C>A (p.Ser608Ter)
c.1992C>A
n.1760C>A
c.2018C>A (p.Ser673Ter)
c.1862C>A (p.Ser621Ter)
c.1985C>A (p.Ser662Ter)
c.1475C>A (p.Ser492Ter)
c.1652C>A (p.Ser551Ter)
c.1646C>A (p.Ser549Ter)
c.1187C>A (p.Ser396Ter)
c.716C>A (p.Ser239Ter)
n.2148C>A
n.2315C>A
c.2063C>A (p.Ser688Ter)
c.755C>A (p.Ser252Ter)
n.2365C>A
n.2338C>A
8g.141168469C>GCA372344504DENND3c.2219C>G (p.Ser740Ter)
c.1979C>G (p.Ser660Ter)
c.1823C>G (p.Ser608Ter)
c.1992C>G
n.1760C>G
c.2018C>G (p.Ser673Ter)
c.1862C>G (p.Ser621Ter)
c.1985C>G (p.Ser662Ter)
c.1475C>G (p.Ser492Ter)
c.1652C>G (p.Ser551Ter)
c.1646C>G (p.Ser549Ter)
c.1187C>G (p.Ser396Ter)
c.716C>G (p.Ser239Ter)
n.2148C>G
n.2315C>G
c.2063C>G (p.Ser688Ter)
c.755C>G (p.Ser252Ter)
n.2365C>G
n.2338C>G
8g.141168469C>TCA372344508DENND3c.2219C>T (p.Ser740Leu)
c.1979C>T (p.Ser660Leu)
c.1823C>T (p.Ser608Leu)
c.1992C>T
n.1760C>T
c.2018C>T (p.Ser673Leu)
c.1862C>T (p.Ser621Leu)
c.1985C>T (p.Ser662Leu)
c.1475C>T (p.Ser492Leu)
c.1652C>T (p.Ser551Leu)
c.1646C>T (p.Ser549Leu)
c.1187C>T (p.Ser396Leu)
c.716C>T (p.Ser239Leu)
n.2148C>T
n.2315C>T
c.2063C>T (p.Ser688Leu)
c.755C>T (p.Ser252Leu)
n.2365C>T
n.2338C>T
 gnomAD v4
8g.141168470A>CCA463497053DENND3c.2220A>C (p.Ser740=)
c.1980A>C (p.Ser660=)
c.1824A>C (p.Ser608=)
c.1993A>C
n.1761A>C
c.2019A>C (p.Ser673=)
c.1863A>C (p.Ser621=)
c.1986A>C (p.Ser662=)
c.1476A>C (p.Ser492=)
c.1653A>C (p.Ser551=)
c.1647A>C (p.Ser549=)
c.1188A>C (p.Ser396=)
c.717A>C (p.Ser239=)
n.2149A>C
n.2316A>C
c.2064A>C (p.Ser688=)
c.756A>C (p.Ser252=)
n.2366A>C
n.2339A>C
8g.141168470A>GCA463497054DENND3c.2220A>G (p.Ser740=)
c.1980A>G (p.Ser660=)
c.1824A>G (p.Ser608=)
c.1993A>G
n.1761A>G
c.2019A>G (p.Ser673=)
c.1863A>G (p.Ser621=)
c.1986A>G (p.Ser662=)
c.1476A>G (p.Ser492=)
c.1653A>G (p.Ser551=)
c.1647A>G (p.Ser549=)
c.1188A>G (p.Ser396=)
c.717A>G (p.Ser239=)
n.2149A>G
n.2316A>G
c.2064A>G (p.Ser688=)
c.756A>G (p.Ser252=)
n.2366A>G
n.2339A>G
 gnomAD v4
8g.141168470A>TCA463497055DENND3c.2220A>T (p.Ser740=)
c.1980A>T (p.Ser660=)
c.1824A>T (p.Ser608=)
c.1993A>T
n.1761A>T
c.2019A>T (p.Ser673=)
c.1863A>T (p.Ser621=)
c.1986A>T (p.Ser662=)
c.1476A>T (p.Ser492=)
c.1653A>T (p.Ser551=)
c.1647A>T (p.Ser549=)
c.1188A>T (p.Ser396=)
c.717A>T (p.Ser239=)
n.2149A>T
n.2316A>T
c.2064A>T (p.Ser688=)
c.756A>T (p.Ser252=)
n.2366A>T
n.2339A>T
8g.141168471G>ACA372344510DENND3c.2221G>A (p.Gly741Arg)
c.1981G>A (p.Gly661Arg)
c.1825G>A (p.Gly609Arg)
c.1994G>A
n.1762G>A
c.2020G>A (p.Gly674Arg)
c.1864G>A (p.Gly622Arg)
c.1987G>A (p.Gly663Arg)
c.1477G>A (p.Gly493Arg)
c.1654G>A (p.Gly552Arg)
c.1648G>A (p.Gly550Arg)
c.1189G>A (p.Gly397Arg)
c.718G>A (p.Gly240Arg)
n.2150G>A
n.2317G>A
c.2065G>A (p.Gly689Arg)
c.757G>A (p.Gly253Arg)
n.2367G>A
n.2340G>A
 dbSNP gnomAD v3 gnomAD v4
8g.141168471G>CCA372344511DENND3c.2221G>C (p.Gly741Arg)
c.1981G>C (p.Gly661Arg)
c.1825G>C (p.Gly609Arg)
c.1994G>C
n.1762G>C
c.2020G>C (p.Gly674Arg)
c.1864G>C (p.Gly622Arg)
c.1987G>C (p.Gly663Arg)
c.1477G>C (p.Gly493Arg)
c.1654G>C (p.Gly552Arg)
c.1648G>C (p.Gly550Arg)
c.1189G>C (p.Gly397Arg)
c.718G>C (p.Gly240Arg)
n.2150G>C
n.2317G>C
c.2065G>C (p.Gly689Arg)
c.757G>C (p.Gly253Arg)
n.2367G>C
n.2340G>C
 dbSNP gnomAD v3 gnomAD v4
8g.141168471G>TCA372344513DENND3c.2221G>T (p.Gly741Trp)
c.1981G>T (p.Gly661Trp)
c.1825G>T (p.Gly609Trp)
c.1994G>T
n.1762G>T
c.2020G>T (p.Gly674Trp)
c.1864G>T (p.Gly622Trp)
c.1987G>T (p.Gly663Trp)
c.1477G>T (p.Gly493Trp)
c.1654G>T (p.Gly552Trp)
c.1648G>T (p.Gly550Trp)
c.1189G>T (p.Gly397Trp)
c.718G>T (p.Gly240Trp)
n.2150G>T
n.2317G>T
c.2065G>T (p.Gly689Trp)
c.757G>T (p.Gly253Trp)
n.2367G>T
n.2340G>T
8g.141168472G>ACA372344516DENND3c.2222G>A (p.Gly741Glu)
c.1982G>A (p.Gly661Glu)
c.1826G>A (p.Gly609Glu)
c.1995G>A
n.1763G>A
c.2021G>A (p.Gly674Glu)
c.1865G>A (p.Gly622Glu)
c.1988G>A (p.Gly663Glu)
c.1478G>A (p.Gly493Glu)
c.1655G>A (p.Gly552Glu)
c.1649G>A (p.Gly550Glu)
c.1190G>A (p.Gly397Glu)
c.719G>A (p.Gly240Glu)
n.2151G>A
n.2318G>A
c.2066G>A (p.Gly689Glu)
c.758G>A (p.Gly253Glu)
n.2368G>A
n.2341G>A
8g.141168472G>CCA372344517DENND3c.2222G>C (p.Gly741Ala)
c.1982G>C (p.Gly661Ala)
c.1826G>C (p.Gly609Ala)
c.1995G>C
n.1763G>C
c.2021G>C (p.Gly674Ala)
c.1865G>C (p.Gly622Ala)
c.1988G>C (p.Gly663Ala)
c.1478G>C (p.Gly493Ala)
c.1655G>C (p.Gly552Ala)
c.1649G>C (p.Gly550Ala)
c.1190G>C (p.Gly397Ala)
c.719G>C (p.Gly240Ala)
n.2151G>C
n.2318G>C
c.2066G>C (p.Gly689Ala)
c.758G>C (p.Gly253Ala)
n.2368G>C
n.2341G>C
 gnomAD v4
8g.141168472G>TCA372344519DENND3c.2222G>T (p.Gly741Val)
c.1982G>T (p.Gly661Val)
c.1826G>T (p.Gly609Val)
c.1995G>T
n.1763G>T
c.2021G>T (p.Gly674Val)
c.1865G>T (p.Gly622Val)
c.1988G>T (p.Gly663Val)
c.1478G>T (p.Gly493Val)
c.1655G>T (p.Gly552Val)
c.1649G>T (p.Gly550Val)
c.1190G>T (p.Gly397Val)
c.719G>T (p.Gly240Val)
n.2151G>T
n.2318G>T
c.2066G>T (p.Gly689Val)
c.758G>T (p.Gly253Val)
n.2368G>T
n.2341G>T
8g.141168473G>ACA463497059DENND3c.2223G>A (p.Gly741=)
c.1983G>A (p.Gly661=)
c.1827G>A (p.Gly609=)
c.1996G>A
n.1764G>A
c.2022G>A (p.Gly674=)
c.1866G>A (p.Gly622=)
c.1989G>A (p.Gly663=)
c.1479G>A (p.Gly493=)
c.1656G>A (p.Gly552=)
c.1650G>A (p.Gly550=)
c.1191G>A (p.Gly397=)
c.720G>A (p.Gly240=)
n.2152G>A
n.2319G>A
c.2067G>A (p.Gly689=)
c.759G>A (p.Gly253=)
n.2369G>A
n.2342G>A
8g.141168473G>CCA463497060DENND3c.2223G>C (p.Gly741=)
c.1983G>C (p.Gly661=)
c.1827G>C (p.Gly609=)
c.1996G>C
n.1764G>C
c.2022G>C (p.Gly674=)
c.1866G>C (p.Gly622=)
c.1989G>C (p.Gly663=)
c.1479G>C (p.Gly493=)
c.1656G>C (p.Gly552=)
c.1650G>C (p.Gly550=)
c.1191G>C (p.Gly397=)
c.720G>C (p.Gly240=)
n.2152G>C
n.2319G>C
c.2067G>C (p.Gly689=)
c.759G>C (p.Gly253=)
n.2369G>C
n.2342G>C
8g.141168473G>TCA463497061DENND3c.2223G>T (p.Gly741=)
c.1983G>T (p.Gly661=)
c.1827G>T (p.Gly609=)
c.1996G>T
n.1764G>T
c.2022G>T (p.Gly674=)
c.1866G>T (p.Gly622=)
c.1989G>T (p.Gly663=)
c.1479G>T (p.Gly493=)
c.1656G>T (p.Gly552=)
c.1650G>T (p.Gly550=)
c.1191G>T (p.Gly397=)
c.720G>T (p.Gly240=)
n.2152G>T
n.2319G>T
c.2067G>T (p.Gly689=)
c.759G>T (p.Gly253=)
n.2369G>T
n.2342G>T
8g.141168474A>CCA372344522DENND3c.2224A>C (p.Ile742Leu)
c.1984A>C (p.Ile662Leu)
c.1828A>C (p.Ile610Leu)
c.1997A>C
n.1765A>C
c.2023A>C (p.Ile675Leu)
c.1867A>C (p.Ile623Leu)
c.1990A>C (p.Ile664Leu)
c.1480A>C (p.Ile494Leu)
c.1657A>C (p.Ile553Leu)
c.1651A>C (p.Ile551Leu)
c.1192A>C (p.Ile398Leu)
c.721A>C (p.Ile241Leu)
n.2153A>C
n.2320A>C
c.2068A>C (p.Ile690Leu)
c.760A>C (p.Ile254Leu)
n.2370A>C
n.2343A>C
8g.141168474A>GCA372344523DENND3c.2224A>G (p.Ile742Val)
c.1984A>G (p.Ile662Val)
c.1828A>G (p.Ile610Val)
c.1997A>G
n.1765A>G
c.2023A>G (p.Ile675Val)
c.1867A>G (p.Ile623Val)
c.1990A>G (p.Ile664Val)
c.1480A>G (p.Ile494Val)
c.1657A>G (p.Ile553Val)
c.1651A>G (p.Ile551Val)
c.1192A>G (p.Ile398Val)
c.721A>G (p.Ile241Val)
n.2153A>G
n.2320A>G
c.2068A>G (p.Ile690Val)
c.760A>G (p.Ile254Val)
n.2370A>G
n.2343A>G
8g.141168474A>TCA372344525DENND3c.2224A>T (p.Ile742Phe)
c.1984A>T (p.Ile662Phe)
c.1828A>T (p.Ile610Phe)
c.1997A>T
n.1765A>T
c.2023A>T (p.Ile675Phe)
c.1867A>T (p.Ile623Phe)
c.1990A>T (p.Ile664Phe)
c.1480A>T (p.Ile494Phe)
c.1657A>T (p.Ile553Phe)
c.1651A>T (p.Ile551Phe)
c.1192A>T (p.Ile398Phe)
c.721A>T (p.Ile241Phe)
n.2153A>T
n.2320A>T
c.2068A>T (p.Ile690Phe)
c.760A>T (p.Ile254Phe)
n.2370A>T
n.2343A>T
8g.141168475T>ACA372344527DENND3c.2225T>A (p.Ile742Asn)
c.1985T>A (p.Ile662Asn)
c.1829T>A (p.Ile610Asn)
c.1998T>A
n.1766T>A
c.2024T>A (p.Ile675Asn)
c.1868T>A (p.Ile623Asn)
c.1991T>A (p.Ile664Asn)
c.1481T>A (p.Ile494Asn)
c.1658T>A (p.Ile553Asn)
c.1652T>A (p.Ile551Asn)
c.1193T>A (p.Ile398Asn)
c.722T>A (p.Ile241Asn)
n.2154T>A
n.2321T>A
c.2069T>A (p.Ile690Asn)
c.761T>A (p.Ile254Asn)
n.2371T>A
n.2344T>A
8g.141168475T>CCA372344529DENND3c.2225T>C (p.Ile742Thr)
c.1985T>C (p.Ile662Thr)
c.1829T>C (p.Ile610Thr)
c.1998T>C
n.1766T>C
c.2024T>C (p.Ile675Thr)
c.1868T>C (p.Ile623Thr)
c.1991T>C (p.Ile664Thr)
c.1481T>C (p.Ile494Thr)
c.1658T>C (p.Ile553Thr)
c.1652T>C (p.Ile551Thr)
c.1193T>C (p.Ile398Thr)
c.722T>C (p.Ile241Thr)
n.2154T>C
n.2321T>C
c.2069T>C (p.Ile690Thr)
c.761T>C (p.Ile254Thr)
n.2371T>C
n.2344T>C
 dbSNP gnomAD v2 gnomAD v4
8g.141168475T>GCA372344531DENND3c.2225T>G (p.Ile742Ser)
c.1985T>G (p.Ile662Ser)
c.1829T>G (p.Ile610Ser)
c.1998T>G
n.1766T>G
c.2024T>G (p.Ile675Ser)
c.1868T>G (p.Ile623Ser)
c.1991T>G (p.Ile664Ser)
c.1481T>G (p.Ile494Ser)
c.1658T>G (p.Ile553Ser)
c.1652T>G (p.Ile551Ser)
c.1193T>G (p.Ile398Ser)
c.722T>G (p.Ile241Ser)
n.2154T>G
n.2321T>G
c.2069T>G (p.Ile690Ser)
c.761T>G (p.Ile254Ser)
n.2371T>G
n.2344T>G
8g.141168476C>ACA463497065DENND3c.2226C>A (p.Ile742=)
c.1986C>A (p.Ile662=)
c.1830C>A (p.Ile610=)
c.1999C>A
n.1767C>A
c.2025C>A (p.Ile675=)
c.1869C>A (p.Ile623=)
c.1992C>A (p.Ile664=)
c.1482C>A (p.Ile494=)
c.1659C>A (p.Ile553=)
c.1653C>A (p.Ile551=)
c.1194C>A (p.Ile398=)
c.723C>A (p.Ile241=)
n.2155C>A
n.2322C>A
c.2070C>A (p.Ile690=)
c.762C>A (p.Ile254=)
n.2372C>A
n.2345C>A
 gnomAD v4
8g.141168476C>GCA372344533DENND3c.2226C>G (p.Ile742Met)
c.1986C>G (p.Ile662Met)
c.1830C>G (p.Ile610Met)
c.1999C>G
n.1767C>G
c.2025C>G (p.Ile675Met)
c.1869C>G (p.Ile623Met)
c.1992C>G (p.Ile664Met)
c.1482C>G (p.Ile494Met)
c.1659C>G (p.Ile553Met)
c.1653C>G (p.Ile551Met)
c.1194C>G (p.Ile398Met)
c.723C>G (p.Ile241Met)
n.2155C>G
n.2322C>G
c.2070C>G (p.Ile690Met)
c.762C>G (p.Ile254Met)
n.2372C>G
n.2345C>G
 gnomAD v4
8g.141168476C>TCA4896831DENND3c.2226C>T (p.Ile742=)
c.1986C>T (p.Ile662=)
c.1830C>T (p.Ile610=)
c.1999C>T
n.1767C>T
c.2025C>T (p.Ile675=)
c.1869C>T (p.Ile623=)
c.1992C>T (p.Ile664=)
c.1482C>T (p.Ile494=)
c.1659C>T (p.Ile553=)
c.1653C>T (p.Ile551=)
c.1194C>T (p.Ile398=)
c.723C>T (p.Ile241=)
n.2155C>T
n.2322C>T
c.2070C>T (p.Ile690=)
c.762C>T (p.Ile254=)
n.2372C>T
n.2345C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.141168477G>ACA4896832DENND3c.2227G>A (p.Val743Met)
c.1987G>A (p.Val663Met)
c.1831G>A (p.Val611Met)
c.2000G>A
n.1768G>A
c.2026G>A (p.Val676Met)
c.1870G>A (p.Val624Met)
c.1993G>A (p.Val665Met)
c.1483G>A (p.Val495Met)
c.1660G>A (p.Val554Met)
c.1654G>A (p.Val552Met)
c.1195G>A (p.Val399Met)
c.724G>A (p.Val242Met)
n.2156G>A
n.2323G>A
c.2071G>A (p.Val691Met)
c.763G>A (p.Val255Met)
n.2373G>A
n.2346G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.141168477G>CCA372344538DENND3c.2227G>C (p.Val743Leu)
c.1987G>C (p.Val663Leu)
c.1831G>C (p.Val611Leu)
c.2000G>C
n.1768G>C
c.2026G>C (p.Val676Leu)
c.1870G>C (p.Val624Leu)
c.1993G>C (p.Val665Leu)
c.1483G>C (p.Val495Leu)
c.1660G>C (p.Val554Leu)
c.1654G>C (p.Val552Leu)
c.1195G>C (p.Val399Leu)
c.724G>C (p.Val242Leu)
n.2156G>C
n.2323G>C
c.2071G>C (p.Val691Leu)
c.763G>C (p.Val255Leu)
n.2373G>C
n.2346G>C
8g.141168477G>TCA372344537DENND3c.2227G>T (p.Val743Leu)
c.1987G>T (p.Val663Leu)
c.1831G>T (p.Val611Leu)
c.2000G>T
n.1768G>T
c.2026G>T (p.Val676Leu)
c.1870G>T (p.Val624Leu)
c.1993G>T (p.Val665Leu)
c.1483G>T (p.Val495Leu)
c.1660G>T (p.Val554Leu)
c.1654G>T (p.Val552Leu)
c.1195G>T (p.Val399Leu)
c.724G>T (p.Val242Leu)
n.2156G>T
n.2323G>T
c.2071G>T (p.Val691Leu)
c.763G>T (p.Val255Leu)
n.2373G>T
n.2346G>T
 dbSNP gnomAD v4
8g.141168478T>ACA372344542DENND3c.2228T>A (p.Val743Glu)
c.1988T>A (p.Val663Glu)
c.1832T>A (p.Val611Glu)
c.2001T>A
n.1769T>A
c.2027T>A (p.Val676Glu)
c.1871T>A (p.Val624Glu)
c.1994T>A (p.Val665Glu)
c.1484T>A (p.Val495Glu)
c.1661T>A (p.Val554Glu)
c.1655T>A (p.Val552Glu)
c.1196T>A (p.Val399Glu)
c.725T>A (p.Val242Glu)
n.2157T>A
n.2324T>A
c.2072T>A (p.Val691Glu)
c.764T>A (p.Val255Glu)
n.2374T>A
n.2347T>A
8g.141168478T>CCA372344543DENND3c.2228T>C (p.Val743Ala)
c.1988T>C (p.Val663Ala)
c.1832T>C (p.Val611Ala)
c.2001T>C
n.1769T>C
c.2027T>C (p.Val676Ala)
c.1871T>C (p.Val624Ala)
c.1994T>C (p.Val665Ala)
c.1484T>C (p.Val495Ala)
c.1661T>C (p.Val554Ala)
c.1655T>C (p.Val552Ala)
c.1196T>C (p.Val399Ala)
c.725T>C (p.Val242Ala)
n.2157T>C
n.2324T>C
c.2072T>C (p.Val691Ala)
c.764T>C (p.Val255Ala)
n.2374T>C
n.2347T>C
8g.141168478T>GCA187325869DENND3c.2228T>G (p.Val743Gly)
c.1988T>G (p.Val663Gly)
c.1832T>G (p.Val611Gly)
c.2001T>G
n.1769T>G
c.2027T>G (p.Val676Gly)
c.1871T>G (p.Val624Gly)
c.1994T>G (p.Val665Gly)
c.1484T>G (p.Val495Gly)
c.1661T>G (p.Val554Gly)
c.1655T>G (p.Val552Gly)
c.1196T>G (p.Val399Gly)
c.725T>G (p.Val242Gly)
n.2157T>G
n.2324T>G
c.2072T>G (p.Val691Gly)
c.764T>G (p.Val255Gly)
n.2374T>G
n.2347T>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.141168479G>ACA463497069DENND3c.2229G>A (p.Val743=)
c.1989G>A (p.Val663=)
c.1833G>A (p.Val611=)
c.2002G>A
n.1770G>A
c.2028G>A (p.Val676=)
c.1872G>A (p.Val624=)
c.1995G>A (p.Val665=)
c.1485G>A (p.Val495=)
c.1662G>A (p.Val554=)
c.1656G>A (p.Val552=)
c.1197G>A (p.Val399=)
c.726G>A (p.Val242=)
n.2158G>A
n.2325G>A
c.2073G>A (p.Val691=)
c.765G>A (p.Val255=)
n.2375G>A
n.2348G>A
 dbSNP
8g.141168479G>CCA463497070DENND3c.2229G>C (p.Val743=)
c.1989G>C (p.Val663=)
c.1833G>C (p.Val611=)
c.2002G>C
n.1770G>C
c.2028G>C (p.Val676=)
c.1872G>C (p.Val624=)
c.1995G>C (p.Val665=)
c.1485G>C (p.Val495=)
c.1662G>C (p.Val554=)
c.1656G>C (p.Val552=)
c.1197G>C (p.Val399=)
c.726G>C (p.Val242=)
n.2158G>C
n.2325G>C
c.2073G>C (p.Val691=)
c.765G>C (p.Val255=)
n.2375G>C
n.2348G>C
8g.141168479G>TCA463497071DENND3c.2229G>T (p.Val743=)
c.1989G>T (p.Val663=)
c.1833G>T (p.Val611=)
c.2002G>T
n.1770G>T
c.2028G>T (p.Val676=)
c.1872G>T (p.Val624=)
c.1995G>T (p.Val665=)
c.1485G>T (p.Val495=)
c.1662G>T (p.Val554=)
c.1656G>T (p.Val552=)
c.1197G>T (p.Val399=)
c.726G>T (p.Val242=)
n.2158G>T
n.2325G>T
c.2073G>T (p.Val691=)
c.765G>T (p.Val255=)
n.2375G>T
n.2348G>T
8g.141168480A>CCA372344547DENND3c.2230A>C (p.Lys744Gln)
c.1990A>C (p.Lys664Gln)
c.1834A>C (p.Lys612Gln)
c.2003A>C
n.1771A>C
c.2029A>C (p.Lys677Gln)
c.1873A>C (p.Lys625Gln)
c.1996A>C (p.Lys666Gln)
c.1486A>C (p.Lys496Gln)
c.1663A>C (p.Lys555Gln)
c.1657A>C (p.Lys553Gln)
c.1198A>C (p.Lys400Gln)
c.727A>C (p.Lys243Gln)
n.2159A>C
n.2326A>C
c.2074A>C (p.Lys692Gln)
c.766A>C (p.Lys256Gln)
n.2376A>C
n.2349A>C
8g.141168480A>GCA372344548DENND3c.2230A>G (p.Lys744Glu)
c.1990A>G (p.Lys664Glu)
c.1834A>G (p.Lys612Glu)
c.2003A>G
n.1771A>G
c.2029A>G (p.Lys677Glu)
c.1873A>G (p.Lys625Glu)
c.1996A>G (p.Lys666Glu)
c.1486A>G (p.Lys496Glu)
c.1663A>G (p.Lys555Glu)
c.1657A>G (p.Lys553Glu)
c.1198A>G (p.Lys400Glu)
c.727A>G (p.Lys243Glu)
n.2159A>G
n.2326A>G
c.2074A>G (p.Lys692Glu)
c.766A>G (p.Lys256Glu)
n.2376A>G
n.2349A>G
8g.141168480A>TCA372344550DENND3c.2230A>T (p.Lys744Ter)
c.1990A>T (p.Lys664Ter)
c.1834A>T (p.Lys612Ter)
c.2003A>T
n.1771A>T
c.2029A>T (p.Lys677Ter)
c.1873A>T (p.Lys625Ter)
c.1996A>T (p.Lys666Ter)
c.1486A>T (p.Lys496Ter)
c.1663A>T (p.Lys555Ter)
c.1657A>T (p.Lys553Ter)
c.1198A>T (p.Lys400Ter)
c.727A>T (p.Lys243Ter)
n.2159A>T
n.2326A>T
c.2074A>T (p.Lys692Ter)
c.766A>T (p.Lys256Ter)
n.2376A>T
n.2349A>T
8g.141168481A>CCA372344552DENND3c.2231A>C (p.Lys744Thr)
c.1991A>C (p.Lys664Thr)
c.1835A>C (p.Lys612Thr)
c.2004A>C
n.1772A>C
c.2030A>C (p.Lys677Thr)
c.1874A>C (p.Lys625Thr)
c.1997A>C (p.Lys666Thr)
c.1487A>C (p.Lys496Thr)
c.1664A>C (p.Lys555Thr)
c.1658A>C (p.Lys553Thr)
c.1199A>C (p.Lys400Thr)
c.728A>C (p.Lys243Thr)
n.2160A>C
n.2327A>C
c.2075A>C (p.Lys692Thr)
c.767A>C (p.Lys256Thr)
n.2377A>C
n.2350A>C
8g.141168481A>GCA372344553DENND3c.2231A>G (p.Lys744Arg)
c.1991A>G (p.Lys664Arg)
c.1835A>G (p.Lys612Arg)
c.2004A>G
n.1772A>G
c.2030A>G (p.Lys677Arg)
c.1874A>G (p.Lys625Arg)
c.1997A>G (p.Lys666Arg)
c.1487A>G (p.Lys496Arg)
c.1664A>G (p.Lys555Arg)
c.1658A>G (p.Lys553Arg)
c.1199A>G (p.Lys400Arg)
c.728A>G (p.Lys243Arg)
n.2160A>G
n.2327A>G
c.2075A>G (p.Lys692Arg)
c.767A>G (p.Lys256Arg)
n.2377A>G
n.2350A>G
8g.141168481A>TCA372344554DENND3c.2231A>T (p.Lys744Met)
c.1991A>T (p.Lys664Met)
c.1835A>T (p.Lys612Met)
c.2004A>T
n.1772A>T
c.2030A>T (p.Lys677Met)
c.1874A>T (p.Lys625Met)
c.1997A>T (p.Lys666Met)
c.1487A>T (p.Lys496Met)
c.1664A>T (p.Lys555Met)
c.1658A>T (p.Lys553Met)
c.1199A>T (p.Lys400Met)
c.728A>T (p.Lys243Met)
n.2160A>T
n.2327A>T
c.2075A>T (p.Lys692Met)
c.767A>T (p.Lys256Met)
n.2377A>T
n.2350A>T
8g.141168482G>ACA463497075DENND3c.2232G>A (p.Lys744=)
c.1992G>A (p.Lys664=)
c.1836G>A (p.Lys612=)
c.2005G>A
n.1773G>A
c.2031G>A (p.Lys677=)
c.1875G>A (p.Lys625=)
c.1998G>A (p.Lys666=)
c.1488G>A (p.Lys496=)
c.1665G>A (p.Lys555=)
c.1659G>A (p.Lys553=)
c.1200G>A (p.Lys400=)
c.729G>A (p.Lys243=)
n.2161G>A
n.2328G>A
c.2076G>A (p.Lys692=)
c.768G>A (p.Lys256=)
n.2378G>A
n.2351G>A
8g.141168482G>CCA372344556DENND3c.2232G>C (p.Lys744Asn)
c.1992G>C (p.Lys664Asn)
c.1836G>C (p.Lys612Asn)
c.2005G>C
n.1773G>C
c.2031G>C (p.Lys677Asn)
c.1875G>C (p.Lys625Asn)
c.1998G>C (p.Lys666Asn)
c.1488G>C (p.Lys496Asn)
c.1665G>C (p.Lys555Asn)
c.1659G>C (p.Lys553Asn)
c.1200G>C (p.Lys400Asn)
c.729G>C (p.Lys243Asn)
n.2161G>C
n.2328G>C
c.2076G>C (p.Lys692Asn)
c.768G>C (p.Lys256Asn)
n.2378G>C
n.2351G>C
 gnomAD v4
8g.141168482G>TCA372344557DENND3c.2232G>T (p.Lys744Asn)
c.1992G>T (p.Lys664Asn)
c.1836G>T (p.Lys612Asn)
c.2005G>T
n.1773G>T
c.2031G>T (p.Lys677Asn)
c.1875G>T (p.Lys625Asn)
c.1998G>T (p.Lys666Asn)
c.1488G>T (p.Lys496Asn)
c.1665G>T (p.Lys555Asn)
c.1659G>T (p.Lys553Asn)
c.1200G>T (p.Lys400Asn)
c.729G>T (p.Lys243Asn)
n.2161G>T
n.2328G>T
c.2076G>T (p.Lys692Asn)
c.768G>T (p.Lys256Asn)
n.2378G>T
n.2351G>T
8g.141168483G>ACA372344559DENND3c.2233G>A (p.Asp745Asn)
c.1993G>A (p.Asp665Asn)
c.1837G>A (p.Asp613Asn)
c.2006G>A
n.1774G>A
c.2032G>A (p.Asp678Asn)
c.1876G>A (p.Asp626Asn)
c.1999G>A (p.Asp667Asn)
c.1489G>A (p.Asp497Asn)
c.1666G>A (p.Asp556Asn)
c.1660G>A (p.Asp554Asn)
c.1201G>A (p.Asp401Asn)
c.730G>A (p.Asp244Asn)
n.2162G>A
n.2329G>A
c.2077G>A (p.Asp693Asn)
c.769G>A (p.Asp257Asn)
n.2379G>A
n.2352G>A
 dbSNP
8g.141168483G>CCA372344561DENND3c.2233G>C (p.Asp745His)
c.1993G>C (p.Asp665His)
c.1837G>C (p.Asp613His)
c.2006G>C
n.1774G>C
c.2032G>C (p.Asp678His)
c.1876G>C (p.Asp626His)
c.1999G>C (p.Asp667His)
c.1489G>C (p.Asp497His)
c.1666G>C (p.Asp556His)
c.1660G>C (p.Asp554His)
c.1201G>C (p.Asp401His)
c.730G>C (p.Asp244His)
n.2162G>C
n.2329G>C
c.2077G>C (p.Asp693His)
c.769G>C (p.Asp257His)
n.2379G>C
n.2352G>C
8g.141168483G>TCA372344563DENND3c.2233G>T (p.Asp745Tyr)
c.1993G>T (p.Asp665Tyr)
c.1837G>T (p.Asp613Tyr)
c.2006G>T
n.1774G>T
c.2032G>T (p.Asp678Tyr)
c.1876G>T (p.Asp626Tyr)
c.1999G>T (p.Asp667Tyr)
c.1489G>T (p.Asp497Tyr)
c.1666G>T (p.Asp556Tyr)
c.1660G>T (p.Asp554Tyr)
c.1201G>T (p.Asp401Tyr)
c.730G>T (p.Asp244Tyr)
n.2162G>T
n.2329G>T
c.2077G>T (p.Asp693Tyr)
c.769G>T (p.Asp257Tyr)
n.2379G>T
n.2352G>T
8g.141168484A>CCA372344567DENND3c.2234A>C (p.Asp745Ala)
c.1994A>C (p.Asp665Ala)
c.1838A>C (p.Asp613Ala)
c.2007A>C
n.1775A>C
c.2033A>C (p.Asp678Ala)
c.1877A>C (p.Asp626Ala)
c.2000A>C (p.Asp667Ala)
c.1490A>C (p.Asp497Ala)
c.1667A>C (p.Asp556Ala)
c.1661A>C (p.Asp554Ala)
c.1202A>C (p.Asp401Ala)
c.731A>C (p.Asp244Ala)
n.2163A>C
n.2330A>C
c.2078A>C (p.Asp693Ala)
c.770A>C (p.Asp257Ala)
n.2380A>C
n.2353A>C
8g.141168484A>GCA372344568DENND3c.2234A>G (p.Asp745Gly)
c.1994A>G (p.Asp665Gly)
c.1838A>G (p.Asp613Gly)
c.2007A>G
n.1775A>G
c.2033A>G (p.Asp678Gly)
c.1877A>G (p.Asp626Gly)
c.2000A>G (p.Asp667Gly)
c.1490A>G (p.Asp497Gly)
c.1667A>G (p.Asp556Gly)
c.1661A>G (p.Asp554Gly)
c.1202A>G (p.Asp401Gly)
c.731A>G (p.Asp244Gly)
n.2163A>G
n.2330A>G
c.2078A>G (p.Asp693Gly)
c.770A>G (p.Asp257Gly)
n.2380A>G
n.2353A>G
8g.141168484A>TCA372344566DENND3c.2234A>T (p.Asp745Val)
c.1994A>T (p.Asp665Val)
c.1838A>T (p.Asp613Val)
c.2007A>T
n.1775A>T
c.2033A>T (p.Asp678Val)
c.1877A>T (p.Asp626Val)
c.2000A>T (p.Asp667Val)
c.1490A>T (p.Asp497Val)
c.1667A>T (p.Asp556Val)
c.1661A>T (p.Asp554Val)
c.1202A>T (p.Asp401Val)
c.731A>T (p.Asp244Val)
n.2163A>T
n.2330A>T
c.2078A>T (p.Asp693Val)
c.770A>T (p.Asp257Val)
n.2380A>T
n.2353A>T
8g.141168485C>ACA372344569DENND3c.2235C>A (p.Asp745Glu)
c.1995C>A (p.Asp665Glu)
c.1839C>A (p.Asp613Glu)
c.2008C>A
n.1776C>A
c.2034C>A (p.Asp678Glu)
c.1878C>A (p.Asp626Glu)
c.2001C>A (p.Asp667Glu)
c.1491C>A (p.Asp497Glu)
c.1668C>A (p.Asp556Glu)
c.1662C>A (p.Asp554Glu)
c.1203C>A (p.Asp401Glu)
c.732C>A (p.Asp244Glu)
n.2164C>A
n.2331C>A
c.2079C>A (p.Asp693Glu)
c.771C>A (p.Asp257Glu)
n.2381C>A
n.2354C>A
8g.141168485C>GCA4896834DENND3c.2235C>G (p.Asp745Glu)
c.1995C>G (p.Asp665Glu)
c.1839C>G (p.Asp613Glu)
c.2008C>G
n.1776C>G
c.2034C>G (p.Asp678Glu)
c.1878C>G (p.Asp626Glu)
c.2001C>G (p.Asp667Glu)
c.1491C>G (p.Asp497Glu)
c.1668C>G (p.Asp556Glu)
c.1662C>G (p.Asp554Glu)
c.1203C>G (p.Asp401Glu)
c.732C>G (p.Asp244Glu)
n.2164C>G
n.2331C>G
c.2079C>G (p.Asp693Glu)
c.771C>G (p.Asp257Glu)
n.2381C>G
n.2354C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.141168485C>TCA4896833DENND3c.2235C>T (p.Asp745=)
c.1995C>T (p.Asp665=)
c.1839C>T (p.Asp613=)
c.2008C>T
n.1776C>T
c.2034C>T (p.Asp678=)
c.1878C>T (p.Asp626=)
c.2001C>T (p.Asp667=)
c.1491C>T (p.Asp497=)
c.1668C>T (p.Asp556=)
c.1662C>T (p.Asp554=)
c.1203C>T (p.Asp401=)
c.732C>T (p.Asp244=)
n.2164C>T
n.2331C>T
c.2079C>T (p.Asp693=)
c.771C>T (p.Asp257=)
n.2381C>T
n.2354C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.141168486G>ACA4896835DENND3c.2236G>A (p.Ala746Thr)
c.1996G>A (p.Ala666Thr)
c.1840G>A (p.Ala614Thr)
c.2009G>A
n.1777G>A
c.2035G>A (p.Ala679Thr)
c.1879G>A (p.Ala627Thr)
c.2002G>A (p.Ala668Thr)
c.1492G>A (p.Ala498Thr)
c.1669G>A (p.Ala557Thr)
c.1663G>A (p.Ala555Thr)
c.1204G>A (p.Ala402Thr)
c.733G>A (p.Ala245Thr)
n.2165G>A
n.2332G>A
c.2080G>A (p.Ala694Thr)
c.772G>A (p.Ala258Thr)
n.2382G>A
n.2355G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.141168486G>CCA372344572DENND3c.2236G>C (p.Ala746Pro)
c.1996G>C (p.Ala666Pro)
c.1840G>C (p.Ala614Pro)
c.2009G>C
n.1777G>C
c.2035G>C (p.Ala679Pro)
c.1879G>C (p.Ala627Pro)
c.2002G>C (p.Ala668Pro)
c.1492G>C (p.Ala498Pro)
c.1669G>C (p.Ala557Pro)
c.1663G>C (p.Ala555Pro)
c.1204G>C (p.Ala402Pro)
c.733G>C (p.Ala245Pro)
n.2165G>C
n.2332G>C
c.2080G>C (p.Ala694Pro)
c.772G>C (p.Ala258Pro)
n.2382G>C
n.2355G>C
8g.141168486G>TCA4896836DENND3c.2236G>T (p.Ala746Ser)
c.1996G>T (p.Ala666Ser)
c.1840G>T (p.Ala614Ser)
c.2009G>T
n.1777G>T
c.2035G>T (p.Ala679Ser)
c.1879G>T (p.Ala627Ser)
c.2002G>T (p.Ala668Ser)
c.1492G>T (p.Ala498Ser)
c.1669G>T (p.Ala557Ser)
c.1663G>T (p.Ala555Ser)
c.1204G>T (p.Ala402Ser)
c.733G>T (p.Ala245Ser)
n.2165G>T
n.2332G>T
c.2080G>T (p.Ala694Ser)
c.772G>T (p.Ala258Ser)
n.2382G>T
n.2355G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.141168487C>ACA372344575DENND3c.2237C>A (p.Ala746Asp)
c.1997C>A (p.Ala666Asp)
c.1841C>A (p.Ala614Asp)
c.2010C>A
n.1778C>A
c.2036C>A (p.Ala679Asp)
c.1880C>A (p.Ala627Asp)
c.2003C>A (p.Ala668Asp)
c.1493C>A (p.Ala498Asp)
c.1670C>A (p.Ala557Asp)
c.1664C>A (p.Ala555Asp)
c.1205C>A (p.Ala402Asp)
c.734C>A (p.Ala245Asp)
n.2166C>A
n.2333C>A
c.2081C>A (p.Ala694Asp)
c.773C>A (p.Ala258Asp)
n.2383C>A
n.2356C>A
8g.141168487C>GCA372344577DENND3c.2237C>G (p.Ala746Gly)
c.1997C>G (p.Ala666Gly)
c.1841C>G (p.Ala614Gly)
c.2010C>G
n.1778C>G
c.2036C>G (p.Ala679Gly)
c.1880C>G (p.Ala627Gly)
c.2003C>G (p.Ala668Gly)
c.1493C>G (p.Ala498Gly)
c.1670C>G (p.Ala557Gly)
c.1664C>G (p.Ala555Gly)
c.1205C>G (p.Ala402Gly)
c.734C>G (p.Ala245Gly)
n.2166C>G
n.2333C>G
c.2081C>G (p.Ala694Gly)
c.773C>G (p.Ala258Gly)
n.2383C>G
n.2356C>G
8g.141168487C>TCA372344579DENND3c.2237C>T (p.Ala746Val)
c.1997C>T (p.Ala666Val)
c.1841C>T (p.Ala614Val)
c.2010C>T
n.1778C>T
c.2036C>T (p.Ala679Val)
c.1880C>T (p.Ala627Val)
c.2003C>T (p.Ala668Val)
c.1493C>T (p.Ala498Val)
c.1670C>T (p.Ala557Val)
c.1664C>T (p.Ala555Val)
c.1205C>T (p.Ala402Val)
c.734C>T (p.Ala245Val)
n.2166C>T
n.2333C>T
c.2081C>T (p.Ala694Val)
c.773C>T (p.Ala258Val)
n.2383C>T
n.2356C>T
 gnomAD v4
8g.141168488C>ACA463497078DENND3c.2238C>A (p.Ala746=)
c.1998C>A (p.Ala666=)
c.1842C>A (p.Ala614=)
c.2011C>A
n.1779C>A
c.2037C>A (p.Ala679=)
c.1881C>A (p.Ala627=)
c.2004C>A (p.Ala668=)
c.1494C>A (p.Ala498=)
c.1671C>A (p.Ala557=)
c.1665C>A (p.Ala555=)
c.1206C>A (p.Ala402=)
c.735C>A (p.Ala245=)
n.2167C>A
n.2334C>A
c.2082C>A (p.Ala694=)
c.774C>A (p.Ala258=)
n.2384C>A
n.2357C>A
 gnomAD v4
8g.141168488C>GCA463497079DENND3c.2238C>G (p.Ala746=)
c.1998C>G (p.Ala666=)
c.1842C>G (p.Ala614=)
c.2011C>G
n.1779C>G
c.2037C>G (p.Ala679=)
c.1881C>G (p.Ala627=)
c.2004C>G (p.Ala668=)
c.1494C>G (p.Ala498=)
c.1671C>G (p.Ala557=)
c.1665C>G (p.Ala555=)
c.1206C>G (p.Ala402=)
c.735C>G (p.Ala245=)
n.2167C>G
n.2334C>G
c.2082C>G (p.Ala694=)
c.774C>G (p.Ala258=)
n.2384C>G
n.2357C>G
8g.141168488C>TCA463497080DENND3c.2238C>T (p.Ala746=)
c.1998C>T (p.Ala666=)
c.1842C>T (p.Ala614=)
c.2011C>T
n.1779C>T
c.2037C>T (p.Ala679=)
c.1881C>T (p.Ala627=)
c.2004C>T (p.Ala668=)
c.1494C>T (p.Ala498=)
c.1671C>T (p.Ala557=)
c.1665C>T (p.Ala555=)
c.1206C>T (p.Ala402=)
c.735C>T (p.Ala245=)
n.2167C>T
n.2334C>T
c.2082C>T (p.Ala694=)
c.774C>T (p.Ala258=)
n.2384C>T
n.2357C>T
8g.141168489A>CCA372344581DENND3c.2239A>C (p.Ser747Arg)
c.1999A>C (p.Ser667Arg)
c.1843A>C (p.Ser615Arg)
c.2012A>C
n.1780A>C
c.2038A>C (p.Ser680Arg)
c.1882A>C (p.Ser628Arg)
c.2005A>C (p.Ser669Arg)
c.1495A>C (p.Ser499Arg)
c.1672A>C (p.Ser558Arg)
c.1666A>C (p.Ser556Arg)
c.1207A>C (p.Ser403Arg)
c.736A>C (p.Ser246Arg)
n.2168A>C
n.2335A>C
c.2083A>C (p.Ser695Arg)
c.775A>C (p.Ser259Arg)
n.2385A>C
n.2358A>C
8g.141168489A>GCA372344582DENND3c.2239A>G (p.Ser747Gly)
c.1999A>G (p.Ser667Gly)
c.1843A>G (p.Ser615Gly)
c.2012A>G
n.1780A>G
c.2038A>G (p.Ser680Gly)
c.1882A>G (p.Ser628Gly)
c.2005A>G (p.Ser669Gly)
c.1495A>G (p.Ser499Gly)
c.1672A>G (p.Ser558Gly)
c.1666A>G (p.Ser556Gly)
c.1207A>G (p.Ser403Gly)
c.736A>G (p.Ser246Gly)
n.2168A>G
n.2335A>G
c.2083A>G (p.Ser695Gly)
c.775A>G (p.Ser259Gly)
n.2385A>G
n.2358A>G
8g.141168489A>TCA372344584DENND3c.2239A>T (p.Ser747Cys)
c.1999A>T (p.Ser667Cys)
c.1843A>T (p.Ser615Cys)
c.2012A>T
n.1780A>T
c.2038A>T (p.Ser680Cys)
c.1882A>T (p.Ser628Cys)
c.2005A>T (p.Ser669Cys)
c.1495A>T (p.Ser499Cys)
c.1672A>T (p.Ser558Cys)
c.1666A>T (p.Ser556Cys)
c.1207A>T (p.Ser403Cys)
c.736A>T (p.Ser246Cys)
n.2168A>T
n.2335A>T
c.2083A>T (p.Ser695Cys)
c.775A>T (p.Ser259Cys)
n.2385A>T
n.2358A>T
8g.141168490G>ACA372344588DENND3c.2240G>A (p.Ser747Asn)
c.2000G>A (p.Ser667Asn)
c.1844G>A (p.Ser615Asn)
c.2013G>A
n.1781G>A
c.2039G>A (p.Ser680Asn)
c.1883G>A (p.Ser628Asn)
c.2006G>A (p.Ser669Asn)
c.1496G>A (p.Ser499Asn)
c.1673G>A (p.Ser558Asn)
c.1667G>A (p.Ser556Asn)
c.1208G>A (p.Ser403Asn)
c.737G>A (p.Ser246Asn)
n.2169G>A
n.2336G>A
c.2084G>A (p.Ser695Asn)
c.776G>A (p.Ser259Asn)
n.2386G>A
n.2359G>A
8g.141168490G>CCA372344586DENND3c.2240G>C (p.Ser747Thr)
c.2000G>C (p.Ser667Thr)
c.1844G>C (p.Ser615Thr)
c.2013G>C
n.1781G>C
c.2039G>C (p.Ser680Thr)
c.1883G>C (p.Ser628Thr)
c.2006G>C (p.Ser669Thr)
c.1496G>C (p.Ser499Thr)
c.1673G>C (p.Ser558Thr)
c.1667G>C (p.Ser556Thr)
c.1208G>C (p.Ser403Thr)
c.737G>C (p.Ser246Thr)
n.2169G>C
n.2336G>C
c.2084G>C (p.Ser695Thr)
c.776G>C (p.Ser259Thr)
n.2386G>C
n.2359G>C
 dbSNP gnomAD v2 gnomAD v4
8g.141168490G>TCA372344585DENND3c.2240G>T (p.Ser747Ile)
c.2000G>T (p.Ser667Ile)
c.1844G>T (p.Ser615Ile)
c.2013G>T
n.1781G>T
c.2039G>T (p.Ser680Ile)
c.1883G>T (p.Ser628Ile)
c.2006G>T (p.Ser669Ile)
c.1496G>T (p.Ser499Ile)
c.1673G>T (p.Ser558Ile)
c.1667G>T (p.Ser556Ile)
c.1208G>T (p.Ser403Ile)
c.737G>T (p.Ser246Ile)
n.2169G>T
n.2336G>T
c.2084G>T (p.Ser695Ile)
c.776G>T (p.Ser259Ile)
n.2386G>T
n.2359G>T
8g.141168491C>ACA372344590DENND3c.2241C>A (p.Ser747Arg)
c.2001C>A (p.Ser667Arg)
c.1845C>A (p.Ser615Arg)
c.2014C>A
n.1782C>A
c.2040C>A (p.Ser680Arg)
c.1884C>A (p.Ser628Arg)
c.2007C>A (p.Ser669Arg)
c.1497C>A (p.Ser499Arg)
c.1674C>A (p.Ser558Arg)
c.1668C>A (p.Ser556Arg)
c.1209C>A (p.Ser403Arg)
c.738C>A (p.Ser246Arg)
n.2170C>A
n.2337C>A
c.2085C>A (p.Ser695Arg)
c.777C>A (p.Ser259Arg)
n.2387C>A
n.2360C>A
8g.141168491C>GCA372344591DENND3c.2241C>G (p.Ser747Arg)
c.2001C>G (p.Ser667Arg)
c.1845C>G (p.Ser615Arg)
c.2014C>G
n.1782C>G
c.2040C>G (p.Ser680Arg)
c.1884C>G (p.Ser628Arg)
c.2007C>G (p.Ser669Arg)
c.1497C>G (p.Ser499Arg)
c.1674C>G (p.Ser558Arg)
c.1668C>G (p.Ser556Arg)
c.1209C>G (p.Ser403Arg)
c.738C>G (p.Ser246Arg)
n.2170C>G
n.2337C>G
c.2085C>G (p.Ser695Arg)
c.777C>G (p.Ser259Arg)
n.2387C>G
n.2360C>G
8g.141168491C>TCA463497084DENND3c.2241C>T (p.Ser747=)
c.2001C>T (p.Ser667=)
c.1845C>T (p.Ser615=)
c.2014C>T
n.1782C>T
c.2040C>T (p.Ser680=)
c.1884C>T (p.Ser628=)
c.2007C>T (p.Ser669=)
c.1497C>T (p.Ser499=)
c.1674C>T (p.Ser558=)
c.1668C>T (p.Ser556=)
c.1209C>T (p.Ser403=)
c.738C>T (p.Ser246=)
n.2170C>T
n.2337C>T
c.2085C>T (p.Ser695=)
c.777C>T (p.Ser259=)
n.2387C>T
n.2360C>T
8g.141168492A>CCA372344593DENND3c.2242A>C (p.Ile748Leu)
c.2002A>C (p.Ile668Leu)
c.1846A>C (p.Ile616Leu)
c.2015A>C
n.1783A>C
c.2041A>C (p.Ile681Leu)
c.1885A>C (p.Ile629Leu)
c.2008A>C (p.Ile670Leu)
c.1498A>C (p.Ile500Leu)
c.1675A>C (p.Ile559Leu)
c.1669A>C (p.Ile557Leu)
c.1210A>C (p.Ile404Leu)
c.739A>C (p.Ile247Leu)
n.2171A>C
n.2338A>C
c.2086A>C (p.Ile696Leu)
c.778A>C (p.Ile260Leu)
n.2388A>C
n.2361A>C
 gnomAD v4
8g.141168492A>GCA372344595DENND3c.2242A>G (p.Ile748Val)
c.2002A>G (p.Ile668Val)
c.1846A>G (p.Ile616Val)
c.2015A>G
n.1783A>G
c.2041A>G (p.Ile681Val)
c.1885A>G (p.Ile629Val)
c.2008A>G (p.Ile670Val)
c.1498A>G (p.Ile500Val)
c.1675A>G (p.Ile559Val)
c.1669A>G (p.Ile557Val)
c.1210A>G (p.Ile404Val)
c.739A>G (p.Ile247Val)
n.2171A>G
n.2338A>G
c.2086A>G (p.Ile696Val)
c.778A>G (p.Ile260Val)
n.2388A>G
n.2361A>G
 gnomAD v4
8g.141168492A>TCA372344597DENND3c.2242A>T (p.Ile748Phe)
c.2002A>T (p.Ile668Phe)
c.1846A>T (p.Ile616Phe)
c.2015A>T
n.1783A>T
c.2041A>T (p.Ile681Phe)
c.1885A>T (p.Ile629Phe)
c.2008A>T (p.Ile670Phe)
c.1498A>T (p.Ile500Phe)
c.1675A>T (p.Ile559Phe)
c.1669A>T (p.Ile557Phe)
c.1210A>T (p.Ile404Phe)
c.739A>T (p.Ile247Phe)
n.2171A>T
n.2338A>T
c.2086A>T (p.Ile696Phe)
c.778A>T (p.Ile260Phe)
n.2388A>T
n.2361A>T
 gnomAD v4

Number of alleles fetched