Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.53984995T>A | CA413251939 | PHF8 | c.2059A>T (p.Thr687Ser) c.2362A>T (p.Thr788Ser) c.*817A>T (n.*817A>T) c.*1804A>T (n.*1804A>T) n.1726A>T c.2311A>T (p.Thr771Ser) c.2470A>T (p.Thr824Ser) c.2073A>T c.1652A>T c.789A>T (p.Glu263Asp) c.2167A>T (p.Thr723Ser) | |
X | g.53984995T>C | CA413251934 | PHF8 | c.2059A>G (p.Thr687Ala) c.2362A>G (p.Thr788Ala) c.*817A>G (n.*817A>G) c.*1804A>G (n.*1804A>G) n.1726A>G c.2311A>G (p.Thr771Ala) c.2470A>G (p.Thr824Ala) c.2073A>G c.1652A>G c.789A>G (p.Glu263=) c.2167A>G (p.Thr723Ala) | |
X | g.53984995T>G | CA413251936 | PHF8 | c.2059A>C (p.Thr687Pro) c.2362A>C (p.Thr788Pro) c.*817A>C (n.*817A>C) c.*1804A>C (n.*1804A>C) n.1726A>C c.2311A>C (p.Thr771Pro) c.2470A>C (p.Thr824Pro) c.2073A>C c.1652A>C c.789A>C (p.Glu263Asp) c.2167A>C (p.Thr723Pro) | |
X | g.53984996T>A | CA413251941 | PHF8 | c.2058A>T (p.Arg686Ser) c.2361A>T (p.Arg787Ser) c.*816A>T (n.*816A>T) c.*1803A>T (n.*1803A>T) n.1725A>T c.2310A>T (p.Arg770Ser) c.2469A>T (p.Arg823Ser) c.2072A>T c.1651A>T c.788A>T (p.Glu263Val) c.2166A>T (p.Arg722Ser) | |
X | g.53984996T>C | CA413251943 | PHF8 | c.2058A>G (p.Arg686=) c.2361A>G (p.Arg787=) c.*816A>G (n.*816A>G) c.*1803A>G (n.*1803A>G) n.1725A>G c.2310A>G (p.Arg770=) c.2469A>G (p.Arg823=) c.2072A>G c.1651A>G c.788A>G (p.Glu263Gly) c.2166A>G (p.Arg722=) | |
X | g.53984996T>G | CA413251946 | PHF8 | c.2058A>C (p.Arg686Ser) c.2361A>C (p.Arg787Ser) c.*816A>C (n.*816A>C) c.*1803A>C (n.*1803A>C) n.1725A>C c.2310A>C (p.Arg770Ser) c.2469A>C (p.Arg823Ser) c.2072A>C c.1651A>C c.788A>C (p.Glu263Ala) c.2166A>C (p.Arg722Ser) | |
X | g.53984997C>A | CA413251948 | PHF8 | c.2057G>T (p.Arg686Ile) c.2360G>T (p.Arg787Ile) c.*815G>T (n.*815G>T) c.*1802G>T (n.*1802G>T) n.1724G>T c.2309G>T (p.Arg770Ile) c.2468G>T (p.Arg823Ile) c.2071G>T c.1650G>T c.787G>T (p.Glu263Ter) c.2165G>T (p.Arg722Ile) | |
X | g.53984997C>G | CA413251951 | PHF8 | c.2057G>C (p.Arg686Thr) c.2360G>C (p.Arg787Thr) c.*815G>C (n.*815G>C) c.*1802G>C (n.*1802G>C) n.1724G>C c.2309G>C (p.Arg770Thr) c.2468G>C (p.Arg823Thr) c.2071G>C c.1650G>C c.787G>C (p.Glu263Gln) c.2165G>C (p.Arg722Thr) | |
X | g.53984997C>T | CA413251953 | PHF8 | c.2057G>A (p.Arg686Lys) c.2360G>A (p.Arg787Lys) c.*815G>A (n.*815G>A) c.*1802G>A (n.*1802G>A) n.1724G>A c.2309G>A (p.Arg770Lys) c.2468G>A (p.Arg823Lys) c.2071G>A c.1650G>A c.787G>A (p.Glu263Lys) c.2165G>A (p.Arg722Lys) | |
X | g.53984998T>A | CA413251956 | PHF8 | c.2056A>T (p.Arg686Ter) c.2359A>T (p.Arg787Ter) c.*814A>T (n.*814A>T) c.*1801A>T (n.*1801A>T) n.1723A>T c.2308A>T (p.Arg770Ter) c.2467A>T (p.Arg823Ter) c.2070A>T c.1649A>T c.786A>T (p.Gly262=) c.2164A>T (p.Arg722Ter) | |
X | g.53984998T>C | CA413251958 | PHF8 | c.2056A>G (p.Arg686Gly) c.2359A>G (p.Arg787Gly) c.*814A>G (n.*814A>G) c.*1801A>G (n.*1801A>G) n.1723A>G c.2308A>G (p.Arg770Gly) c.2467A>G (p.Arg823Gly) c.2070A>G c.1649A>G c.786A>G (p.Gly262=) c.2164A>G (p.Arg722Gly) | |
X | g.53984998T>G | CA516688822 | PHF8 | c.2056A>C (p.Arg686=) c.2359A>C (p.Arg787=) c.*814A>C (n.*814A>C) c.*1801A>C (n.*1801A>C) n.1723A>C c.2308A>C (p.Arg770=) c.2467A>C (p.Arg823=) c.2070A>C c.1649A>C c.786A>C (p.Gly262=) c.2164A>C (p.Arg722=) | |
X | g.53984999C>A | CA413251960 | PHF8 | c.2055G>T (p.Trp685Cys) c.2358G>T (p.Trp786Cys) c.*813G>T (n.*813G>T) c.*1800G>T (n.*1800G>T) n.1722G>T c.2307G>T (p.Trp769Cys) c.2466G>T (p.Trp822Cys) c.2069G>T c.1648G>T c.785G>T (p.Gly262Val) c.2163G>T (p.Trp721Cys) | |
X | g.53984999C>G | CA413251962 | PHF8 | c.2055G>C (p.Trp685Cys) c.2358G>C (p.Trp786Cys) c.*813G>C (n.*813G>C) c.*1800G>C (n.*1800G>C) n.1722G>C c.2307G>C (p.Trp769Cys) c.2466G>C (p.Trp822Cys) c.2069G>C c.1648G>C c.785G>C (p.Gly262Ala) c.2163G>C (p.Trp721Cys) | COSMIC |
X | g.53984999C>T | CA413251964 | PHF8 | c.2055G>A (p.Trp685Ter) c.2358G>A (p.Trp786Ter) c.*813G>A (n.*813G>A) c.*1800G>A (n.*1800G>A) n.1722G>A c.2307G>A (p.Trp769Ter) c.2466G>A (p.Trp822Ter) c.2069G>A c.1648G>A c.785G>A (p.Gly262Glu) c.2163G>A (p.Trp721Ter) | |
X | g.53985000C>A | CA413251971 | PHF8 | c.2054G>T (p.Trp685Leu) c.2357G>T (p.Trp786Leu) c.*812G>T (n.*812G>T) c.*1799G>T (n.*1799G>T) n.1721G>T c.2306G>T (p.Trp769Leu) c.2465G>T (p.Trp822Leu) c.2068G>T c.1647G>T c.784G>T (p.Gly262Ter) c.2162G>T (p.Trp721Leu) | |
X | g.53985000C>G | CA413251968 | PHF8 | c.2054G>C (p.Trp685Ser) c.2357G>C (p.Trp786Ser) c.*812G>C (n.*812G>C) c.*1799G>C (n.*1799G>C) n.1721G>C c.2306G>C (p.Trp769Ser) c.2465G>C (p.Trp822Ser) c.2068G>C c.1647G>C c.784G>C (p.Gly262Arg) c.2162G>C (p.Trp721Ser) | |
X | g.53985000C>T | CA413251967 | PHF8 | c.2054G>A (p.Trp685Ter) c.2357G>A (p.Trp786Ter) c.*812G>A (n.*812G>A) c.*1799G>A (n.*1799G>A) n.1721G>A c.2306G>A (p.Trp769Ter) c.2465G>A (p.Trp822Ter) c.2068G>A c.1647G>A c.784G>A (p.Gly262Arg) c.2162G>A (p.Trp721Ter) | |
X | g.53985001A>C | CA413251974 | PHF8 | c.2053T>G (p.Trp685Gly) c.2356T>G (p.Trp786Gly) c.*811T>G (n.*811T>G) c.*1798T>G (n.*1798T>G) n.1720T>G c.2305T>G (p.Trp769Gly) c.2464T>G (p.Trp822Gly) c.2067T>G c.1646T>G c.783T>G (p.Thr261=) c.2161T>G (p.Trp721Gly) | gnomAD v4 |
X | g.53985001A>G | CA413251975 | PHF8 | c.2053T>C (p.Trp685Arg) c.2356T>C (p.Trp786Arg) c.*811T>C (n.*811T>C) c.*1798T>C (n.*1798T>C) n.1720T>C c.2305T>C (p.Trp769Arg) c.2464T>C (p.Trp822Arg) c.2067T>C c.1646T>C c.783T>C (p.Thr261=) c.2161T>C (p.Trp721Arg) | |
X | g.53985001A>T | CA413251977 | PHF8 | c.2053T>A (p.Trp685Arg) c.2356T>A (p.Trp786Arg) c.*811T>A (n.*811T>A) c.*1798T>A (n.*1798T>A) n.1720T>A c.2305T>A (p.Trp769Arg) c.2464T>A (p.Trp822Arg) c.2067T>A c.1646T>A c.783T>A (p.Thr261=) c.2161T>A (p.Trp721Arg) | |
X | g.53985002G>A | CA413251980 | PHF8 | c.2052C>T (p.Tyr684=) c.2355C>T (p.Tyr785=) c.*810C>T (n.*810C>T) c.*1797C>T (n.*1797C>T) n.1719C>T c.2304C>T (p.Tyr768=) c.2463C>T (p.Tyr821=) c.2066C>T c.1645C>T c.782C>T (p.Thr261Ile) c.2160C>T (p.Tyr720=) | gnomAD v4 |
X | g.53985002G>C | CA413251982 | PHF8 | c.2052C>G (p.Tyr684Ter) c.2355C>G (p.Tyr785Ter) c.*810C>G (n.*810C>G) c.*1797C>G (n.*1797C>G) n.1719C>G c.2304C>G (p.Tyr768Ter) c.2463C>G (p.Tyr821Ter) c.2066C>G c.1645C>G c.782C>G (p.Thr261Ser) c.2160C>G (p.Tyr720Ter) | |
X | g.53985002G>T | CA413251984 | PHF8 | c.2052C>A (p.Tyr684Ter) c.2355C>A (p.Tyr785Ter) c.*810C>A (n.*810C>A) c.*1797C>A (n.*1797C>A) n.1719C>A c.2304C>A (p.Tyr768Ter) c.2463C>A (p.Tyr821Ter) c.2066C>A c.1645C>A c.782C>A (p.Thr261Asn) c.2160C>A (p.Tyr720Ter) | |
X | g.53985003T>A | CA413251992 | PHF8 | c.2051A>T (p.Tyr684Phe) c.2354A>T (p.Tyr785Phe) c.*809A>T (n.*809A>T) c.*1796A>T (n.*1796A>T) n.1718A>T c.2303A>T (p.Tyr768Phe) c.2462A>T (p.Tyr821Phe) c.2065A>T c.1644A>T c.781A>T (p.Thr261Ser) c.2159A>T (p.Tyr720Phe) | |
X | g.53985003T>C | CA413251990 | PHF8 | c.2051A>G (p.Tyr684Cys) c.2354A>G (p.Tyr785Cys) c.*809A>G (n.*809A>G) c.*1796A>G (n.*1796A>G) n.1718A>G c.2303A>G (p.Tyr768Cys) c.2462A>G (p.Tyr821Cys) c.2065A>G c.1644A>G c.781A>G (p.Thr261Ala) c.2159A>G (p.Tyr720Cys) | |
X | g.53985003T>G | CA413251988 | PHF8 | c.2051A>C (p.Tyr684Ser) c.2354A>C (p.Tyr785Ser) c.*809A>C (n.*809A>C) c.*1796A>C (n.*1796A>C) n.1718A>C c.2303A>C (p.Tyr768Ser) c.2462A>C (p.Tyr821Ser) c.2065A>C c.1644A>C c.781A>C (p.Thr261Pro) c.2159A>C (p.Tyr720Ser) | |
X | g.53985004A>C | CA413251995 | PHF8 | c.2050T>G (p.Tyr684Asp) c.2353T>G (p.Tyr785Asp) c.*808T>G (n.*808T>G) c.*1795T>G (n.*1795T>G) n.1717T>G c.2302T>G (p.Tyr768Asp) c.2461T>G (p.Tyr821Asp) c.2064T>G c.1643T>G c.780T>G (p.His260Gln) c.2158T>G (p.Tyr720Asp) | |
X | g.53985004A>G | CA413251998 | PHF8 | c.2050T>C (p.Tyr684His) c.2353T>C (p.Tyr785His) c.*808T>C (n.*808T>C) c.*1795T>C (n.*1795T>C) n.1717T>C c.2302T>C (p.Tyr768His) c.2461T>C (p.Tyr821His) c.2064T>C c.1643T>C c.780T>C (p.His260=) c.2158T>C (p.Tyr720His) | |
X | g.53985004A>T | CA413252000 | PHF8 | c.2050T>A (p.Tyr684Asn) c.2353T>A (p.Tyr785Asn) c.*808T>A (n.*808T>A) c.*1795T>A (n.*1795T>A) n.1717T>A c.2302T>A (p.Tyr768Asn) c.2461T>A (p.Tyr821Asn) c.2064T>A c.1643T>A c.780T>A (p.His260Gln) c.2158T>A (p.Tyr720Asn) | |
X | g.53985005T>A | CA413252003 | PHF8 | c.2049A>T (p.Ala683=) c.2352A>T (p.Ala784=) c.*807A>T (n.*807A>T) c.*1794A>T (n.*1794A>T) n.1716A>T c.2301A>T (p.Ala767=) c.2460A>T (p.Ala820=) c.2063A>T c.1642A>T c.779A>T (p.His260Leu) c.2157A>T (p.Ala719=) | |
X | g.53985005T>C | CA413252005 | PHF8 | c.2049A>G (p.Ala683=) c.2352A>G (p.Ala784=) c.*807A>G (n.*807A>G) c.*1794A>G (n.*1794A>G) n.1716A>G c.2301A>G (p.Ala767=) c.2460A>G (p.Ala820=) c.2063A>G c.1642A>G c.779A>G (p.His260Arg) c.2157A>G (p.Ala719=) | |
X | g.53985005T>G | CA413252006 | PHF8 | c.2049A>C (p.Ala683=) c.2352A>C (p.Ala784=) c.*807A>C (n.*807A>C) c.*1794A>C (n.*1794A>C) n.1716A>C c.2301A>C (p.Ala767=) c.2460A>C (p.Ala820=) c.2063A>C c.1642A>C c.779A>C (p.His260Pro) c.2157A>C (p.Ala719=) | |
X | g.53985006G>A | CA413252009 | PHF8 | c.2048C>T (p.Ala683Val) c.2351C>T (p.Ala784Val) c.*806C>T (n.*806C>T) c.*1793C>T (n.*1793C>T) n.1715C>T c.2300C>T (p.Ala767Val) c.2459C>T (p.Ala820Val) c.2062C>T c.1641C>T c.778C>T (p.His260Tyr) c.2156C>T (p.Ala719Val) | |
X | g.53985006G>C | CA413252013 | PHF8 | c.2048C>G (p.Ala683Gly) c.2351C>G (p.Ala784Gly) c.*806C>G (n.*806C>G) c.*1793C>G (n.*1793C>G) n.1715C>G c.2300C>G (p.Ala767Gly) c.2459C>G (p.Ala820Gly) c.2062C>G c.1641C>G c.778C>G (p.His260Asp) c.2156C>G (p.Ala719Gly) | |
X | g.53985006G>T | CA413252011 | PHF8 | c.2048C>A (p.Ala683Glu) c.2351C>A (p.Ala784Glu) c.*806C>A (n.*806C>A) c.*1793C>A (n.*1793C>A) n.1715C>A c.2300C>A (p.Ala767Glu) c.2459C>A (p.Ala820Glu) c.2062C>A c.1641C>A c.778C>A (p.His260Asn) c.2156C>A (p.Ala719Glu) | |
X | g.53985007C>A | CA413252015 | PHF8 | c.2047G>T (p.Ala683Ser) c.2350G>T (p.Ala784Ser) c.*805G>T (n.*805G>T) c.*1792G>T (n.*1792G>T) n.1714G>T c.2299G>T (p.Ala767Ser) c.2458G>T (p.Ala820Ser) c.2061G>T c.1640G>T c.777G>T (p.Gln259His) c.2155G>T (p.Ala719Ser) | dbSNP |
X | g.53985007C= | CA2430030665 | PHF8 | c.2047G= (p.Ala683=) c.2350G= (p.Ala784=) c.*805G= (n.*805G=) c.*1792G= (n.*1792G=) n.1714G= c.2299G= (p.Ala767=) c.2458G= (p.Ala820=) c.2061G= c.1640G= c.777G= (p.Gln259=) c.2155G= (p.Ala719=) | |
X | g.53985007C>G | CA413252017 | PHF8 | c.2047G>C (p.Ala683Pro) c.2350G>C (p.Ala784Pro) c.*805G>C (n.*805G>C) c.*1792G>C (n.*1792G>C) n.1714G>C c.2299G>C (p.Ala767Pro) c.2458G>C (p.Ala820Pro) c.2061G>C c.1640G>C c.777G>C (p.Gln259His) c.2155G>C (p.Ala719Pro) | |
X | g.53985007C>T | CA413252019 | PHF8 | c.2047G>A (p.Ala683Thr) c.2350G>A (p.Ala784Thr) c.*805G>A (n.*805G>A) c.*1792G>A (n.*1792G>A) n.1714G>A c.2299G>A (p.Ala767Thr) c.2458G>A (p.Ala820Thr) c.2061G>A c.1640G>A c.777G>A (p.Gln259=) c.2155G>A (p.Ala719Thr) | |
X | g.53985008T>A | CA413252021 | PHF8 | c.2046A>T (p.Pro682=) c.2349A>T (p.Pro783=) c.*804A>T (n.*804A>T) c.*1791A>T (n.*1791A>T) n.1713A>T c.2298A>T (p.Pro766=) c.2457A>T (p.Pro819=) c.2060A>T c.1639A>T c.776A>T (p.Gln259Leu) c.2154A>T (p.Pro718=) | |
X | g.53985008T>C | CA413252023 | PHF8 | c.2046A>G (p.Pro682=) c.2349A>G (p.Pro783=) c.*804A>G (n.*804A>G) c.*1791A>G (n.*1791A>G) n.1713A>G c.2298A>G (p.Pro766=) c.2457A>G (p.Pro819=) c.2060A>G c.1639A>G c.776A>G (p.Gln259Arg) c.2154A>G (p.Pro718=) | gnomAD v4 |
X | g.53985008T>G | CA413252025 | PHF8 | c.2046A>C (p.Pro682=) c.2349A>C (p.Pro783=) c.*804A>C (n.*804A>C) c.*1791A>C (n.*1791A>C) n.1713A>C c.2298A>C (p.Pro766=) c.2457A>C (p.Pro819=) c.2060A>C c.1639A>C c.776A>C (p.Gln259Pro) c.2154A>C (p.Pro718=) | |
X | g.53985009G>A | CA413252028 | PHF8 | c.2045C>T (p.Pro682Leu) c.2348C>T (p.Pro783Leu) c.*803C>T (n.*803C>T) c.*1790C>T (n.*1790C>T) n.1712C>T c.2297C>T (p.Pro766Leu) c.2456C>T (p.Pro819Leu) c.2059C>T c.1638C>T c.775C>T (p.Gln259Ter) c.2153C>T (p.Pro718Leu) | dbSNP gnomAD v2 |
X | g.53985009G>C | CA413252031 | PHF8 | c.2045C>G (p.Pro682Arg) c.2348C>G (p.Pro783Arg) c.*803C>G (n.*803C>G) c.*1790C>G (n.*1790C>G) n.1712C>G c.2297C>G (p.Pro766Arg) c.2456C>G (p.Pro819Arg) c.2059C>G c.1638C>G c.775C>G (p.Gln259Glu) c.2153C>G (p.Pro718Arg) | |
X | g.53985009G= | CA2430030666 | PHF8 | c.2045C= (p.Pro682=) c.2348C= (p.Pro783=) c.*803C= (n.*803C=) c.*1790C= (n.*1790C=) n.1712C= c.2297C= (p.Pro766=) c.2456C= (p.Pro819=) c.2059C= c.1638C= c.775C= (p.Gln259=) c.2153C= (p.Pro718=) | |
X | g.53985009G>T | CA10423304 | PHF8 | c.2045C>A (p.Pro682Gln) c.2348C>A (p.Pro783Gln) c.*803C>A (n.*803C>A) c.*1790C>A (n.*1790C>A) n.1712C>A c.2297C>A (p.Pro766Gln) c.2456C>A (p.Pro819Gln) c.2059C>A c.1638C>A c.775C>A (p.Gln259Lys) c.2153C>A (p.Pro718Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53985017_53985028del | CA2693828082 | PHF8 | c.2034_2045del (p.Ile679_Pro682del) c.2337_2348del (p.Ile780_Pro783del) c.*792_*803del (n.*792_*803del) c.*1779_*1790del (n.*1779_*1790del) n.1701_1712del c.2286_2297del (p.Ile763_Pro766del) c.2445_2456del (p.Ile816_Pro819del) c.2048_2059del c.1627_1638del c.764_775del (p.Pro255_Gly258del) c.2142_2153del (p.Ile715_Pro718del) | gnomAD v4 |
X | g.53985010G>A | CA329924347 | PHF8 | c.2044C>T (p.Pro682Ser) c.2347C>T (p.Pro783Ser) c.*802C>T (n.*802C>T) c.*1789C>T (n.*1789C>T) n.1711C>T c.2296C>T (p.Pro766Ser) c.2455C>T (p.Pro819Ser) c.2058C>T c.1637C>T c.774C>T (p.Gly258=) c.2152C>T (p.Pro718Ser) | dbSNP |
X | g.53985010G>C | CA413252037 | PHF8 | c.2044C>G (p.Pro682Ala) c.2347C>G (p.Pro783Ala) c.*802C>G (n.*802C>G) c.*1789C>G (n.*1789C>G) n.1711C>G c.2296C>G (p.Pro766Ala) c.2455C>G (p.Pro819Ala) c.2058C>G c.1637C>G c.774C>G (p.Gly258=) c.2152C>G (p.Pro718Ala) | |
X | g.53985010G= | CA2430030667 | PHF8 | c.2044C= (p.Pro682=) c.2347C= (p.Pro783=) c.*802C= (n.*802C=) c.*1789C= (n.*1789C=) n.1711C= c.2296C= (p.Pro766=) c.2455C= (p.Pro819=) c.2058C= c.1637C= c.774C= (p.Gly258=) c.2152C= (p.Pro718=) | |
X | g.53985010G>T | CA413252038 | PHF8 | c.2044C>A (p.Pro682Thr) c.2347C>A (p.Pro783Thr) c.*802C>A (n.*802C>A) c.*1789C>A (n.*1789C>A) n.1711C>A c.2296C>A (p.Pro766Thr) c.2455C>A (p.Pro819Thr) c.2058C>A c.1637C>A c.774C>A (p.Gly258=) c.2152C>A (p.Pro718Thr) | |
X | g.53985011C>A | CA413252042 | PHF8 | c.2043G>T (p.Arg681=) c.2346G>T (p.Arg782=) c.*801G>T (n.*801G>T) c.*1788G>T (n.*1788G>T) n.1710G>T c.2295G>T (p.Arg765=) c.2454G>T (p.Arg818=) c.2057G>T c.1636G>T c.773G>T (p.Gly258Val) c.2151G>T (p.Arg717=) | gnomAD v4 |
X | g.53985011C>G | CA413252047 | PHF8 | c.2043G>C (p.Arg681=) c.2346G>C (p.Arg782=) c.*801G>C (n.*801G>C) c.*1788G>C (n.*1788G>C) n.1710G>C c.2295G>C (p.Arg765=) c.2454G>C (p.Arg818=) c.2057G>C c.1636G>C c.773G>C (p.Gly258Ala) c.2151G>C (p.Arg717=) | |
X | g.53985011C>T | CA413252044 | PHF8 | c.2043G>A (p.Arg681=) c.2346G>A (p.Arg782=) c.*801G>A (n.*801G>A) c.*1788G>A (n.*1788G>A) n.1710G>A c.2295G>A (p.Arg765=) c.2454G>A (p.Arg818=) c.2057G>A c.1636G>A c.773G>A (p.Gly258Asp) c.2151G>A (p.Arg717=) | |
X | g.53985012C>A | CA413252050 | PHF8 | c.2042G>T (p.Arg681Leu) c.2345G>T (p.Arg782Leu) c.*800G>T (n.*800G>T) c.*1787G>T (n.*1787G>T) n.1709G>T c.2294G>T (p.Arg765Leu) c.2453G>T (p.Arg818Leu) c.2056G>T c.1635G>T c.772G>T (p.Gly258Cys) c.2150G>T (p.Arg717Leu) | |
X | g.53985012C= | CA2430030668 | PHF8 | c.2042G= (p.Arg681=) c.2345G= (p.Arg782=) c.*800G= (n.*800G=) c.*1787G= (n.*1787G=) n.1709G= c.2294G= (p.Arg765=) c.2453G= (p.Arg818=) c.2056G= c.1635G= c.772G= (p.Gly258=) c.2150G= (p.Arg717=) | |
X | g.53985012C>G | CA413252052 | PHF8 | c.2042G>C (p.Arg681Pro) c.2345G>C (p.Arg782Pro) c.*800G>C (n.*800G>C) c.*1787G>C (n.*1787G>C) n.1709G>C c.2294G>C (p.Arg765Pro) c.2453G>C (p.Arg818Pro) c.2056G>C c.1635G>C c.772G>C (p.Gly258Arg) c.2150G>C (p.Arg717Pro) | ClinVar dbSNP gnomAD v4 |
X | g.53985012C>T | CA10423305 | PHF8 | c.2042G>A (p.Arg681Gln) c.2345G>A (p.Arg782Gln) c.*800G>A (n.*800G>A) c.*1787G>A (n.*1787G>A) n.1709G>A c.2294G>A (p.Arg765Gln) c.2453G>A (p.Arg818Gln) c.2056G>A c.1635G>A c.772G>A (p.Gly258Ser) c.2150G>A (p.Arg717Gln) | ClinVar dbSNP ExAC gnomAD v4 |
X | g.53985013G>A | CA413252057 | PHF8 | c.2041C>T (p.Arg681Trp) c.2344C>T (p.Arg782Trp) c.*799C>T (n.*799C>T) c.*1786C>T (n.*1786C>T) n.1708C>T c.2293C>T (p.Arg765Trp) c.2452C>T (p.Arg818Trp) c.2055C>T c.1634C>T c.771C>T (p.Ser257=) c.2149C>T (p.Arg717Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53985013G>C | CA413252059 | PHF8 | c.2041C>G (p.Arg681Gly) c.2344C>G (p.Arg782Gly) c.*799C>G (n.*799C>G) c.*1786C>G (n.*1786C>G) n.1708C>G c.2293C>G (p.Arg765Gly) c.2452C>G (p.Arg818Gly) c.2055C>G c.1634C>G c.771C>G (p.Ser257Arg) c.2149C>G (p.Arg717Gly) | |
X | g.53985013G= | CA2430030669 | PHF8 | c.2041C= (p.Arg681=) c.2344C= (p.Arg782=) c.*799C= (n.*799C=) c.*1786C= (n.*1786C=) n.1708C= c.2293C= (p.Arg765=) c.2452C= (p.Arg818=) c.2055C= c.1634C= c.771C= (p.Ser257=) c.2149C= (p.Arg717=) | |
X | g.53985013G>T | CA413252060 | PHF8 | c.2041C>A (p.Arg681=) c.2344C>A (p.Arg782=) c.*799C>A (n.*799C>A) c.*1786C>A (n.*1786C>A) n.1708C>A c.2293C>A (p.Arg765=) c.2452C>A (p.Arg818=) c.2055C>A c.1634C>A c.771C>A (p.Ser257Arg) c.2149C>A (p.Arg717=) | dbSNP |
X | g.53985014C>A | CA413252062 | PHF8 | c.2040G>T (p.Lys680Asn) c.2343G>T (p.Lys781Asn) c.*798G>T (n.*798G>T) c.*1785G>T (n.*1785G>T) n.1707G>T c.2292G>T (p.Lys764Asn) c.2451G>T (p.Lys817Asn) c.2054G>T c.1633G>T c.770G>T (p.Ser257Ile) c.2148G>T (p.Lys716Asn) | |
X | g.53985014C>G | CA413252064 | PHF8 | c.2040G>C (p.Lys680Asn) c.2343G>C (p.Lys781Asn) c.*798G>C (n.*798G>C) c.*1785G>C (n.*1785G>C) n.1707G>C c.2292G>C (p.Lys764Asn) c.2451G>C (p.Lys817Asn) c.2054G>C c.1633G>C c.770G>C (p.Ser257Thr) c.2148G>C (p.Lys716Asn) | |
X | g.53985014C>T | CA413252067 | PHF8 | c.2040G>A (p.Lys680=) c.2343G>A (p.Lys781=) c.*798G>A (n.*798G>A) c.*1785G>A (n.*1785G>A) n.1707G>A c.2292G>A (p.Lys764=) c.2451G>A (p.Lys817=) c.2054G>A c.1633G>A c.770G>A (p.Ser257Asn) c.2148G>A (p.Lys716=) | |
X | g.53985015T>A | CA413252069 | PHF8 | c.2039A>T (p.Lys680Met) c.2342A>T (p.Lys781Met) c.*797A>T (n.*797A>T) c.*1784A>T (n.*1784A>T) n.1706A>T c.2291A>T (p.Lys764Met) c.2450A>T (p.Lys817Met) c.2053A>T c.1632A>T c.769A>T (p.Ser257Cys) c.2147A>T (p.Lys716Met) | |
X | g.53985015T>C | CA413252070 | PHF8 | c.2039A>G (p.Lys680Arg) c.2342A>G (p.Lys781Arg) c.*797A>G (n.*797A>G) c.*1784A>G (n.*1784A>G) n.1706A>G c.2291A>G (p.Lys764Arg) c.2450A>G (p.Lys817Arg) c.2053A>G c.1632A>G c.769A>G (p.Ser257Gly) c.2147A>G (p.Lys716Arg) | |
X | g.53985015T>G | CA413252071 | PHF8 | c.2039A>C (p.Lys680Thr) c.2342A>C (p.Lys781Thr) c.*797A>C (n.*797A>C) c.*1784A>C (n.*1784A>C) n.1706A>C c.2291A>C (p.Lys764Thr) c.2450A>C (p.Lys817Thr) c.2053A>C c.1632A>C c.769A>C (p.Ser257Arg) c.2147A>C (p.Lys716Thr) | |
X | g.53985016T>A | CA413252074 | PHF8 | c.2038A>T (p.Lys680Ter) c.2341A>T (p.Lys781Ter) c.*796A>T (n.*796A>T) c.*1783A>T (n.*1783A>T) n.1705A>T c.2290A>T (p.Lys764Ter) c.2449A>T (p.Lys817Ter) c.2052A>T c.1631A>T c.768A>T (p.Ser256=) c.2146A>T (p.Lys716Ter) | |
X | g.53985016T>C | CA413252073 | PHF8 | c.2038A>G (p.Lys680Glu) c.2341A>G (p.Lys781Glu) c.*796A>G (n.*796A>G) c.*1783A>G (n.*1783A>G) n.1705A>G c.2290A>G (p.Lys764Glu) c.2449A>G (p.Lys817Glu) c.2052A>G c.1631A>G c.768A>G (p.Ser256=) c.2146A>G (p.Lys716Glu) | |
X | g.53985016T>G | CA413252072 | PHF8 | c.2038A>C (p.Lys680Gln) c.2341A>C (p.Lys781Gln) c.*796A>C (n.*796A>C) c.*1783A>C (n.*1783A>C) n.1705A>C c.2290A>C (p.Lys764Gln) c.2449A>C (p.Lys817Gln) c.2052A>C c.1631A>C c.768A>C (p.Ser256=) c.2146A>C (p.Lys716Gln) | |
X | g.53985017G>A | CA413252076 | PHF8 | c.2037C>T (p.Ile679=) c.2340C>T (p.Ile780=) c.*795C>T (n.*795C>T) c.*1782C>T (n.*1782C>T) n.1704C>T c.2289C>T (p.Ile763=) c.2448C>T (p.Ile816=) c.2051C>T c.1630C>T c.767C>T (p.Ser256Leu) c.2145C>T (p.Ile715=) | gnomAD v4 |
X | g.53985017G>C | CA413252078 | PHF8 | c.2037C>G (p.Ile679Met) c.2340C>G (p.Ile780Met) c.*795C>G (n.*795C>G) c.*1782C>G (n.*1782C>G) n.1704C>G c.2289C>G (p.Ile763Met) c.2448C>G (p.Ile816Met) c.2051C>G c.1630C>G c.767C>G (p.Ser256Ter) c.2145C>G (p.Ile715Met) | |
X | g.53985017G>T | CA413252080 | PHF8 | c.2037C>A (p.Ile679=) c.2340C>A (p.Ile780=) c.*795C>A (n.*795C>A) c.*1782C>A (n.*1782C>A) n.1704C>A c.2289C>A (p.Ile763=) c.2448C>A (p.Ile816=) c.2051C>A c.1630C>A c.767C>A (p.Ser256Ter) c.2145C>A (p.Ile715=) | |
X | g.53985018A>C | CA413252081 | PHF8 | c.2036T>G (p.Ile679Ser) c.2339T>G (p.Ile780Ser) c.*794T>G (n.*794T>G) c.*1781T>G (n.*1781T>G) n.1703T>G c.2288T>G (p.Ile763Ser) c.2447T>G (p.Ile816Ser) c.2050T>G c.1629T>G c.766T>G (p.Ser256Ala) c.2144T>G (p.Ile715Ser) | |
X | g.53985018A>G | CA413252082 | PHF8 | c.2036T>C (p.Ile679Thr) c.2339T>C (p.Ile780Thr) c.*794T>C (n.*794T>C) c.*1781T>C (n.*1781T>C) n.1703T>C c.2288T>C (p.Ile763Thr) c.2447T>C (p.Ile816Thr) c.2050T>C c.1629T>C c.766T>C (p.Ser256Pro) c.2144T>C (p.Ile715Thr) | |
X | g.53985018A>T | CA413252083 | PHF8 | c.2036T>A (p.Ile679Asn) c.2339T>A (p.Ile780Asn) c.*794T>A (n.*794T>A) c.*1781T>A (n.*1781T>A) n.1703T>A c.2288T>A (p.Ile763Asn) c.2447T>A (p.Ile816Asn) c.2050T>A c.1629T>A c.766T>A (p.Ser256Thr) c.2144T>A (p.Ile715Asn) | |
X | g.53985019T>A | CA413252086 | PHF8 | c.2035A>T (p.Ile679Phe) c.2338A>T (p.Ile780Phe) c.*793A>T (n.*793A>T) c.*1780A>T (n.*1780A>T) n.1702A>T c.2287A>T (p.Ile763Phe) c.2446A>T (p.Ile816Phe) c.2049A>T c.1628A>T c.765A>T (p.Pro255=) c.2143A>T (p.Ile715Phe) | dbSNP |
X | g.53985019T>C | CA413252092 | PHF8 | c.2035A>G (p.Ile679Val) c.2338A>G (p.Ile780Val) c.*793A>G (n.*793A>G) c.*1780A>G (n.*1780A>G) n.1702A>G c.2287A>G (p.Ile763Val) c.2446A>G (p.Ile816Val) c.2049A>G c.1628A>G c.765A>G (p.Pro255=) c.2143A>G (p.Ile715Val) | dbSNP gnomAD v4 |
X | g.53985019T>G | CA413252094 | PHF8 | c.2035A>C (p.Ile679Leu) c.2338A>C (p.Ile780Leu) c.*793A>C (n.*793A>C) c.*1780A>C (n.*1780A>C) n.1702A>C c.2287A>C (p.Ile763Leu) c.2446A>C (p.Ile816Leu) c.2049A>C c.1628A>C c.765A>C (p.Pro255=) c.2143A>C (p.Ile715Leu) | |
X | g.53985020G>A | CA413252097 | PHF8 | c.2034C>T (p.Pro678=) c.2337C>T (p.Pro779=) c.*792C>T (n.*792C>T) c.*1779C>T (n.*1779C>T) n.1701C>T c.2286C>T (p.Pro762=) c.2445C>T (p.Pro815=) c.2048C>T c.1627C>T c.764C>T (p.Pro255Leu) c.2142C>T (p.Pro714=) | gnomAD v4 |
X | g.53985020G>C | CA413252099 | PHF8 | c.2034C>G (p.Pro678=) c.2337C>G (p.Pro779=) c.*792C>G (n.*792C>G) c.*1779C>G (n.*1779C>G) n.1701C>G c.2286C>G (p.Pro762=) c.2445C>G (p.Pro815=) c.2048C>G c.1627C>G c.764C>G (p.Pro255Arg) c.2142C>G (p.Pro714=) | |
X | g.53985020G>T | CA413252101 | PHF8 | c.2034C>A (p.Pro678=) c.2337C>A (p.Pro779=) c.*792C>A (n.*792C>A) c.*1779C>A (n.*1779C>A) n.1701C>A c.2286C>A (p.Pro762=) c.2445C>A (p.Pro815=) c.2048C>A c.1627C>A c.764C>A (p.Pro255Gln) c.2142C>A (p.Pro714=) | |
X | g.53985021G>A | CA413252104 | PHF8 | c.2033C>T (p.Pro678Leu) c.2336C>T (p.Pro779Leu) c.*791C>T (n.*791C>T) c.*1778C>T (n.*1778C>T) n.1700C>T c.2285C>T (p.Pro762Leu) c.2444C>T (p.Pro815Leu) c.2047C>T c.1626C>T c.763C>T (p.Pro255Ser) c.2141C>T (p.Pro714Leu) | dbSNP gnomAD v2 gnomAD v4 |
X | g.53985021G>C | CA413252107 | PHF8 | c.2033C>G (p.Pro678Arg) c.2336C>G (p.Pro779Arg) c.*791C>G (n.*791C>G) c.*1778C>G (n.*1778C>G) n.1700C>G c.2285C>G (p.Pro762Arg) c.2444C>G (p.Pro815Arg) c.2047C>G c.1626C>G c.763C>G (p.Pro255Ala) c.2141C>G (p.Pro714Arg) | |
X | g.53985021G= | CA2430030670 | PHF8 | c.2033C= (p.Pro678=) c.2336C= (p.Pro779=) c.*791C= (n.*791C=) c.*1778C= (n.*1778C=) n.1700C= c.2285C= (p.Pro762=) c.2444C= (p.Pro815=) c.2047C= c.1626C= c.763C= (p.Pro255=) c.2141C= (p.Pro714=) | |
X | g.53985021G>T | CA413252105 | PHF8 | c.2033C>A (p.Pro678His) c.2336C>A (p.Pro779His) c.*791C>A (n.*791C>A) c.*1778C>A (n.*1778C>A) n.1700C>A c.2285C>A (p.Pro762His) c.2444C>A (p.Pro815His) c.2047C>A c.1626C>A c.763C>A (p.Pro255Thr) c.2141C>A (p.Pro714His) | |
X | g.53985022G>A | CA413252115 | PHF8 | c.2032C>T (p.Pro678Ser) c.2335C>T (p.Pro779Ser) c.*790C>T (n.*790C>T) c.*1777C>T (n.*1777C>T) n.1699C>T c.2284C>T (p.Pro762Ser) c.2443C>T (p.Pro815Ser) c.2046C>T c.1625C>T c.762C>T (p.Gly254=) c.2140C>T (p.Pro714Ser) | |
X | g.53985022G>C | CA413252120 | PHF8 | c.2032C>G (p.Pro678Ala) c.2335C>G (p.Pro779Ala) c.*790C>G (n.*790C>G) c.*1777C>G (n.*1777C>G) n.1699C>G c.2284C>G (p.Pro762Ala) c.2443C>G (p.Pro815Ala) c.2046C>G c.1625C>G c.762C>G (p.Gly254=) c.2140C>G (p.Pro714Ala) | |
X | g.53985022G>T | CA413252117 | PHF8 | c.2032C>A (p.Pro678Thr) c.2335C>A (p.Pro779Thr) c.*790C>A (n.*790C>A) c.*1777C>A (n.*1777C>A) n.1699C>A c.2284C>A (p.Pro762Thr) c.2443C>A (p.Pro815Thr) c.2046C>A c.1625C>A c.762C>A (p.Gly254=) c.2140C>A (p.Pro714Thr) | |
X | g.53985023C>A | CA413252122 | PHF8 | c.2031G>T (p.Arg677=) c.2334G>T (p.Arg778=) c.*789G>T (n.*789G>T) c.*1776G>T (n.*1776G>T) n.1698G>T c.2283G>T (p.Arg761=) c.2442G>T (p.Arg814=) c.2045G>T c.1624G>T c.761G>T (p.Gly254Val) c.2139G>T (p.Arg713=) | |
X | g.53985023C= | CA2430030671 | PHF8 | c.2031G= (p.Arg677=) c.2334G= (p.Arg778=) c.*789G= (n.*789G=) c.*1776G= (n.*1776G=) n.1698G= c.2283G= (p.Arg761=) c.2442G= (p.Arg814=) c.2045G= c.1624G= c.761G= (p.Gly254=) c.2139G= (p.Arg713=) | |
X | g.53985023C>G | CA413252125 | PHF8 | c.2031G>C (p.Arg677=) c.2334G>C (p.Arg778=) c.*789G>C (n.*789G>C) c.*1776G>C (n.*1776G>C) n.1698G>C c.2283G>C (p.Arg761=) c.2442G>C (p.Arg814=) c.2045G>C c.1624G>C c.761G>C (p.Gly254Ala) c.2139G>C (p.Arg713=) | |
X | g.53985023C>T | CA10423306 | PHF8 | c.2031G>A (p.Arg677=) c.2334G>A (p.Arg778=) c.*789G>A (n.*789G>A) c.*1776G>A (n.*1776G>A) n.1698G>A c.2283G>A (p.Arg761=) c.2442G>A (p.Arg814=) c.2045G>A c.1624G>A c.761G>A (p.Gly254Asp) c.2139G>A (p.Arg713=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53985024C>A | CA413252129 | PHF8 | c.2030G>T (p.Arg677Leu) c.2333G>T (p.Arg778Leu) c.*788G>T (n.*788G>T) c.*1775G>T (n.*1775G>T) n.1697G>T c.2282G>T (p.Arg761Leu) c.2441G>T (p.Arg814Leu) c.2044G>T c.1623G>T c.760G>T (p.Gly254Cys) c.2138G>T (p.Arg713Leu) | |
X | g.53985024C= | CA2430030672 | PHF8 | c.2030G= (p.Arg677=) c.2333G= (p.Arg778=) c.*788G= (n.*788G=) c.*1775G= (n.*1775G=) n.1697G= c.2282G= (p.Arg761=) c.2441G= (p.Arg814=) c.2044G= c.1623G= c.760G= (p.Gly254=) c.2138G= (p.Arg713=) | |
X | g.53985024C>G | CA413252131 | PHF8 | c.2030G>C (p.Arg677Pro) c.2333G>C (p.Arg778Pro) c.*788G>C (n.*788G>C) c.*1775G>C (n.*1775G>C) n.1697G>C c.2282G>C (p.Arg761Pro) c.2441G>C (p.Arg814Pro) c.2044G>C c.1623G>C c.760G>C (p.Gly254Arg) c.2138G>C (p.Arg713Pro) | |
X | g.53985024C>T | CA10423307 | PHF8 | c.2030G>A (p.Arg677Gln) c.2333G>A (p.Arg778Gln) c.*788G>A (n.*788G>A) c.*1775G>A (n.*1775G>A) n.1697G>A c.2282G>A (p.Arg761Gln) c.2441G>A (p.Arg814Gln) c.2044G>A c.1623G>A c.760G>A (p.Gly254Ser) c.2138G>A (p.Arg713Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53985025G>A | CA329924348 | PHF8 | c.2029C>T (p.Arg677Trp) c.2332C>T (p.Arg778Trp) c.*787C>T (n.*787C>T) c.*1774C>T (n.*1774C>T) n.1696C>T c.2281C>T (p.Arg761Trp) c.2440C>T (p.Arg814Trp) c.2043C>T c.1622C>T c.759C>T (p.Ser253=) c.2137C>T (p.Arg713Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53985025G>C | CA413252137 | PHF8 | c.2029C>G (p.Arg677Gly) c.2332C>G (p.Arg778Gly) c.*787C>G (n.*787C>G) c.*1774C>G (n.*1774C>G) n.1696C>G c.2281C>G (p.Arg761Gly) c.2440C>G (p.Arg814Gly) c.2043C>G c.1622C>G c.759C>G (p.Ser253Arg) c.2137C>G (p.Arg713Gly) | |
X | g.53985025G= | CA2430030673 | PHF8 | c.2029C= (p.Arg677=) c.2332C= (p.Arg778=) c.*787C= (n.*787C=) c.*1774C= (n.*1774C=) n.1696C= c.2281C= (p.Arg761=) c.2440C= (p.Arg814=) c.2043C= c.1622C= c.759C= (p.Ser253=) c.2137C= (p.Arg713=) | |
X | g.53985025G>T | CA413252140 | PHF8 | c.2029C>A (p.Arg677=) c.2332C>A (p.Arg778=) c.*787C>A (n.*787C>A) c.*1774C>A (n.*1774C>A) n.1696C>A c.2281C>A (p.Arg761=) c.2440C>A (p.Arg814=) c.2043C>A c.1622C>A c.759C>A (p.Ser253Arg) c.2137C>A (p.Arg713=) | |
X | g.53985026C>A | CA413252143 | PHF8 | c.2028G>T (p.Lys676Asn) c.2331G>T (p.Lys777Asn) c.*786G>T (n.*786G>T) c.*1773G>T (n.*1773G>T) n.1695G>T c.2280G>T (p.Lys760Asn) c.2439G>T (p.Lys813Asn) c.2042G>T c.1621G>T c.758G>T (p.Ser253Ile) c.2136G>T (p.Lys712Asn) | |
X | g.53985026C>G | CA413252146 | PHF8 | c.2028G>C (p.Lys676Asn) c.2331G>C (p.Lys777Asn) c.*786G>C (n.*786G>C) c.*1773G>C (n.*1773G>C) n.1695G>C c.2280G>C (p.Lys760Asn) c.2439G>C (p.Lys813Asn) c.2042G>C c.1621G>C c.758G>C (p.Ser253Thr) c.2136G>C (p.Lys712Asn) | |
X | g.53985026C>T | CA413252148 | PHF8 | c.2028G>A (p.Lys676=) c.2331G>A (p.Lys777=) c.*786G>A (n.*786G>A) c.*1773G>A (n.*1773G>A) n.1695G>A c.2280G>A (p.Lys760=) c.2439G>A (p.Lys813=) c.2042G>A c.1621G>A c.758G>A (p.Ser253Asn) c.2136G>A (p.Lys712=) | gnomAD v4 |
X | g.53985027T>A | CA413252149 | PHF8 | c.2027A>T (p.Lys676Met) c.2330A>T (p.Lys777Met) c.*785A>T (n.*785A>T) c.*1772A>T (n.*1772A>T) n.1694A>T c.2279A>T (p.Lys760Met) c.2438A>T (p.Lys813Met) c.2041A>T c.1620A>T c.757A>T (p.Ser253Cys) c.2135A>T (p.Lys712Met) | |
X | g.53985027T>C | CA413252150 | PHF8 | c.2027A>G (p.Lys676Arg) c.2330A>G (p.Lys777Arg) c.*785A>G (n.*785A>G) c.*1772A>G (n.*1772A>G) n.1694A>G c.2279A>G (p.Lys760Arg) c.2438A>G (p.Lys813Arg) c.2041A>G c.1620A>G c.757A>G (p.Ser253Gly) c.2135A>G (p.Lys712Arg) | |
X | g.53985027T>G | CA413252151 | PHF8 | c.2027A>C (p.Lys676Thr) c.2330A>C (p.Lys777Thr) c.*785A>C (n.*785A>C) c.*1772A>C (n.*1772A>C) n.1694A>C c.2279A>C (p.Lys760Thr) c.2438A>C (p.Lys813Thr) c.2041A>C c.1620A>C c.757A>C (p.Ser253Arg) c.2135A>C (p.Lys712Thr) | |
X | g.53985028T>A | CA413252157 | PHF8 | c.2026A>T (p.Lys676Ter) c.2329A>T (p.Lys777Ter) c.*784A>T (n.*784A>T) c.*1771A>T (n.*1771A>T) n.1693A>T c.2278A>T (p.Lys760Ter) c.2437A>T (p.Lys813Ter) c.2040A>T c.1619A>T c.756A>T (p.Gly252=) c.2134A>T (p.Lys712Ter) | |
X | g.53985028T>C | CA413252153 | PHF8 | c.2026A>G (p.Lys676Glu) c.2329A>G (p.Lys777Glu) c.*784A>G (n.*784A>G) c.*1771A>G (n.*1771A>G) n.1693A>G c.2278A>G (p.Lys760Glu) c.2437A>G (p.Lys813Glu) c.2040A>G c.1619A>G c.756A>G (p.Gly252=) c.2134A>G (p.Lys712Glu) | |
X | g.53985028T>G | CA413252155 | PHF8 | c.2026A>C (p.Lys676Gln) c.2329A>C (p.Lys777Gln) c.*784A>C (n.*784A>C) c.*1771A>C (n.*1771A>C) n.1693A>C c.2278A>C (p.Lys760Gln) c.2437A>C (p.Lys813Gln) c.2040A>C c.1619A>C c.756A>C (p.Gly252=) c.2134A>C (p.Lys712Gln) | |
X | g.53985029C>A | CA413252160 | PHF8 | c.2025G>T (p.Gly675=) c.2328G>T (p.Gly776=) c.*783G>T (n.*783G>T) c.*1770G>T (n.*1770G>T) n.1692G>T c.2277G>T (p.Gly759=) c.2436G>T (p.Gly812=) c.2039G>T c.1618G>T c.755G>T (p.Gly252Val) c.2133G>T (p.Gly711=) | |
X | g.53985029C>G | CA413252162 | PHF8 | c.2025G>C (p.Gly675=) c.2328G>C (p.Gly776=) c.*783G>C (n.*783G>C) c.*1770G>C (n.*1770G>C) n.1692G>C c.2277G>C (p.Gly759=) c.2436G>C (p.Gly812=) c.2039G>C c.1618G>C c.755G>C (p.Gly252Ala) c.2133G>C (p.Gly711=) | |
X | g.53985029C>T | CA413252165 | PHF8 | c.2025G>A (p.Gly675=) c.2328G>A (p.Gly776=) c.*783G>A (n.*783G>A) c.*1770G>A (n.*1770G>A) n.1692G>A c.2277G>A (p.Gly759=) c.2436G>A (p.Gly812=) c.2039G>A c.1618G>A c.755G>A (p.Gly252Glu) c.2133G>A (p.Gly711=) | |
X | g.53985030C>A | CA413252168 | PHF8 | c.2024G>T (p.Gly675Val) c.2327G>T (p.Gly776Val) c.*782G>T (n.*782G>T) c.*1769G>T (n.*1769G>T) n.1691G>T c.2276G>T (p.Gly759Val) c.2435G>T (p.Gly812Val) c.2038G>T c.1617G>T c.754G>T (p.Gly252Ter) c.2132G>T (p.Gly711Val) | |
X | g.53985030C>G | CA413252170 | PHF8 | c.2024G>C (p.Gly675Ala) c.2327G>C (p.Gly776Ala) c.*782G>C (n.*782G>C) c.*1769G>C (n.*1769G>C) n.1691G>C c.2276G>C (p.Gly759Ala) c.2435G>C (p.Gly812Ala) c.2038G>C c.1617G>C c.754G>C (p.Gly252Arg) c.2132G>C (p.Gly711Ala) | |
X | g.53985030C>T | CA413252172 | PHF8 | c.2024G>A (p.Gly675Glu) c.2327G>A (p.Gly776Glu) c.*782G>A (n.*782G>A) c.*1769G>A (n.*1769G>A) n.1691G>A c.2276G>A (p.Gly759Glu) c.2435G>A (p.Gly812Glu) c.2038G>A c.1617G>A c.754G>A (p.Gly252Arg) c.2132G>A (p.Gly711Glu) | gnomAD v4 |
X | g.53985031C>A | CA413252175 | PHF8 | c.2023G>T (p.Gly675Trp) c.2326G>T (p.Gly776Trp) c.*781G>T (n.*781G>T) c.*1768G>T (n.*1768G>T) n.1690G>T c.2275G>T (p.Gly759Trp) c.2434G>T (p.Gly812Trp) c.2037G>T c.1616G>T c.753G>T (p.Gln251His) c.2131G>T (p.Gly711Trp) | |
X | g.53985031C>G | CA413252176 | PHF8 | c.2023G>C (p.Gly675Arg) c.2326G>C (p.Gly776Arg) c.*781G>C (n.*781G>C) c.*1768G>C (n.*1768G>C) n.1690G>C c.2275G>C (p.Gly759Arg) c.2434G>C (p.Gly812Arg) c.2037G>C c.1616G>C c.753G>C (p.Gln251His) c.2131G>C (p.Gly711Arg) | |
X | g.53985031C>T | CA413252183 | PHF8 | c.2023G>A (p.Gly675Arg) c.2326G>A (p.Gly776Arg) c.*781G>A (n.*781G>A) c.*1768G>A (n.*1768G>A) n.1690G>A c.2275G>A (p.Gly759Arg) c.2434G>A (p.Gly812Arg) c.2037G>A c.1616G>A c.753G>A (p.Gln251=) c.2131G>A (p.Gly711Arg) | |
X | g.53985032T>A | CA413252186 | PHF8 | c.2022A>T (p.Pro674=) c.2325A>T (p.Pro775=) c.*780A>T (n.*780A>T) c.*1767A>T (n.*1767A>T) n.1689A>T c.2274A>T (p.Pro758=) c.2433A>T (p.Pro811=) c.2036A>T c.1615A>T c.752A>T (p.Gln251Leu) c.2130A>T (p.Pro710=) | |
X | g.53985032T>C | CA413252188 | PHF8 | c.2022A>G (p.Pro674=) c.2325A>G (p.Pro775=) c.*780A>G (n.*780A>G) c.*1767A>G (n.*1767A>G) n.1689A>G c.2274A>G (p.Pro758=) c.2433A>G (p.Pro811=) c.2036A>G c.1615A>G c.752A>G (p.Gln251Arg) c.2130A>G (p.Pro710=) | gnomAD v4 |
X | g.53985032T>G | CA413252190 | PHF8 | c.2022A>C (p.Pro674=) c.2325A>C (p.Pro775=) c.*780A>C (n.*780A>C) c.*1767A>C (n.*1767A>C) n.1689A>C c.2274A>C (p.Pro758=) c.2433A>C (p.Pro811=) c.2036A>C c.1615A>C c.752A>C (p.Gln251Pro) c.2130A>C (p.Pro710=) | |
X | g.53985033G>A | CA413252195 | PHF8 | c.2021C>T (p.Pro674Leu) c.2324C>T (p.Pro775Leu) c.*779C>T (n.*779C>T) c.*1766C>T (n.*1766C>T) n.1688C>T c.2273C>T (p.Pro758Leu) c.2432C>T (p.Pro811Leu) c.2035C>T c.1614C>T c.751C>T (p.Gln251Ter) c.2129C>T (p.Pro710Leu) | |
X | g.53985033G>C | CA413252194 | PHF8 | c.2021C>G (p.Pro674Arg) c.2324C>G (p.Pro775Arg) c.*779C>G (n.*779C>G) c.*1766C>G (n.*1766C>G) n.1688C>G c.2273C>G (p.Pro758Arg) c.2432C>G (p.Pro811Arg) c.2035C>G c.1614C>G c.751C>G (p.Gln251Glu) c.2129C>G (p.Pro710Arg) | gnomAD v4 |
X | g.53985033G>T | CA413252193 | PHF8 | c.2021C>A (p.Pro674Gln) c.2324C>A (p.Pro775Gln) c.*779C>A (n.*779C>A) c.*1766C>A (n.*1766C>A) n.1688C>A c.2273C>A (p.Pro758Gln) c.2432C>A (p.Pro811Gln) c.2035C>A c.1614C>A c.751C>A (p.Gln251Lys) c.2129C>A (p.Pro710Gln) | |
X | g.53985033_53985039delinsGGGGTGC | CA2430030674 | PHF8 | c.2015_2021delinsGCACCCC (p.Arg672=) c.2318_2324delinsGCACCCC (p.Arg773=) c.*773_*779delinsGCACCCC (n.*773_*779delinsGCACCCC) c.*1760_*1766delinsGCACCCC (n.*1760_*1766delinsGCACCCC) n.1682_1688delinsGCACCCC c.2267_2273delinsGCACCCC (p.Arg756=) c.2426_2432delinsGCACCCC (p.Arg809=) c.2029_2035delinsGCACCCC c.1608_1614delinsGCACCCC c.745_751delinsGCACCCC (p.Ala249=) c.2123_2129delinsGCACCCC (p.Arg708=) | |
X | g.53985034G>A | CA413252209 | PHF8 | c.2020C>T (p.Pro674Ser) c.2323C>T (p.Pro775Ser) c.*778C>T (n.*778C>T) c.*1765C>T (n.*1765C>T) n.1687C>T c.2272C>T (p.Pro758Ser) c.2431C>T (p.Pro811Ser) c.2034C>T c.1613C>T c.750C>T (p.Pro250=) c.2128C>T (p.Pro710Ser) | gnomAD v4 |
X | g.53985034G>C | CA413252198 | PHF8 | c.2020C>G (p.Pro674Ala) c.2323C>G (p.Pro775Ala) c.*778C>G (n.*778C>G) c.*1765C>G (n.*1765C>G) n.1687C>G c.2272C>G (p.Pro758Ala) c.2431C>G (p.Pro811Ala) c.2034C>G c.1613C>G c.750C>G (p.Pro250=) c.2128C>G (p.Pro710Ala) | |
X | g.53985034G= | CA2430030676 | PHF8 | c.2020C= (p.Pro674=) c.2323C= (p.Pro775=) c.*778C= (n.*778C=) c.*1765C= (n.*1765C=) n.1687C= c.2272C= (p.Pro758=) c.2431C= (p.Pro811=) c.2034C= c.1613C= c.750C= (p.Pro250=) c.2128C= (p.Pro710=) | |
X | g.53985034G>T | CA413252203 | PHF8 | c.2020C>A (p.Pro674Thr) c.2323C>A (p.Pro775Thr) c.*778C>A (n.*778C>A) c.*1765C>A (n.*1765C>A) n.1687C>A c.2272C>A (p.Pro758Thr) c.2431C>A (p.Pro811Thr) c.2034C>A c.1613C>A c.750C>A (p.Pro250=) c.2128C>A (p.Pro710Thr) | dbSNP gnomAD v2 gnomAD v4 |
X | g.53985035_53985040del | CA2430030675 | PHF8 | c.2015_2020del (p.Arg672_Thr673del) c.2318_2323del (p.Arg773_Thr774del) c.*773_*778del (n.*773_*778del) c.*1760_*1765del (n.*1760_*1765del) n.1682_1687del c.2267_2272del (p.Arg756_Thr757del) c.2426_2431del (p.Arg809_Thr810del) c.2029_2034del c.1608_1613del c.745_750del (p.Ala249_Pro250del) c.2123_2128del (p.Arg708_Thr709del) | dbSNP |
X | g.53985035G>A | CA329924349 | PHF8 | c.2019C>T (p.Thr673=) c.2322C>T (p.Thr774=) c.*777C>T (n.*777C>T) c.*1764C>T (n.*1764C>T) n.1686C>T c.2271C>T (p.Thr757=) c.2430C>T (p.Thr810=) c.2033C>T c.1612C>T c.749C>T (p.Pro250Leu) c.2127C>T (p.Thr709=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.53985035G>C | CA413252216 | PHF8 | c.2019C>G (p.Thr673=) c.2322C>G (p.Thr774=) c.*777C>G (n.*777C>G) c.*1764C>G (n.*1764C>G) n.1686C>G c.2271C>G (p.Thr757=) c.2430C>G (p.Thr810=) c.2033C>G c.1612C>G c.749C>G (p.Pro250Arg) c.2127C>G (p.Thr709=) | |
X | g.53985035G= | CA2430030677 | PHF8 | c.2019C= (p.Thr673=) c.2322C= (p.Thr774=) c.*777C= (n.*777C=) c.*1764C= (n.*1764C=) n.1686C= c.2271C= (p.Thr757=) c.2430C= (p.Thr810=) c.2033C= c.1612C= c.749C= (p.Pro250=) c.2127C= (p.Thr709=) | |
X | g.53985035G>T | CA413252218 | PHF8 | c.2019C>A (p.Thr673=) c.2322C>A (p.Thr774=) c.*777C>A (n.*777C>A) c.*1764C>A (n.*1764C>A) n.1686C>A c.2271C>A (p.Thr757=) c.2430C>A (p.Thr810=) c.2033C>A c.1612C>A c.749C>A (p.Pro250His) c.2127C>A (p.Thr709=) | |
X | g.53985036G>A | CA413252223 | PHF8 | c.2018C>T (p.Thr673Ile) c.2321C>T (p.Thr774Ile) c.*776C>T (n.*776C>T) c.*1763C>T (n.*1763C>T) n.1685C>T c.2270C>T (p.Thr757Ile) c.2429C>T (p.Thr810Ile) c.2032C>T c.1611C>T c.748C>T (p.Pro250Ser) c.2126C>T (p.Thr709Ile) | |
X | g.53985036G>C | CA413252221 | PHF8 | c.2018C>G (p.Thr673Ser) c.2321C>G (p.Thr774Ser) c.*776C>G (n.*776C>G) c.*1763C>G (n.*1763C>G) n.1685C>G c.2270C>G (p.Thr757Ser) c.2429C>G (p.Thr810Ser) c.2032C>G c.1611C>G c.748C>G (p.Pro250Ala) c.2126C>G (p.Thr709Ser) | |
X | g.53985036G>T | CA413252219 | PHF8 | c.2018C>A (p.Thr673Asn) c.2321C>A (p.Thr774Asn) c.*776C>A (n.*776C>A) c.*1763C>A (n.*1763C>A) n.1685C>A c.2270C>A (p.Thr757Asn) c.2429C>A (p.Thr810Asn) c.2032C>A c.1611C>A c.748C>A (p.Pro250Thr) c.2126C>A (p.Thr709Asn) | gnomAD v4 |
X | g.53985037T>A | CA413252227 | PHF8 | c.2017A>T (p.Thr673Ser) c.2320A>T (p.Thr774Ser) c.*775A>T (n.*775A>T) c.*1762A>T (n.*1762A>T) n.1684A>T c.2269A>T (p.Thr757Ser) c.2428A>T (p.Thr810Ser) c.2031A>T c.1610A>T c.747A>T (p.Ala249=) c.2125A>T (p.Thr709Ser) | dbSNP |
X | g.53985037T>C | CA413252228 | PHF8 | c.2017A>G (p.Thr673Ala) c.2320A>G (p.Thr774Ala) c.*775A>G (n.*775A>G) c.*1762A>G (n.*1762A>G) n.1684A>G c.2269A>G (p.Thr757Ala) c.2428A>G (p.Thr810Ala) c.2031A>G c.1610A>G c.747A>G (p.Ala249=) c.2125A>G (p.Thr709Ala) | |
X | g.53985037T>G | CA413252231 | PHF8 | c.2017A>C (p.Thr673Pro) c.2320A>C (p.Thr774Pro) c.*775A>C (n.*775A>C) c.*1762A>C (n.*1762A>C) n.1684A>C c.2269A>C (p.Thr757Pro) c.2428A>C (p.Thr810Pro) c.2031A>C c.1610A>C c.747A>C (p.Ala249=) c.2125A>C (p.Thr709Pro) | |
X | g.53985038G>A | CA413252234 | PHF8 | c.2016C>T (p.Arg672=) c.2319C>T (p.Arg773=) c.*774C>T (n.*774C>T) c.*1761C>T (n.*1761C>T) n.1683C>T c.2268C>T (p.Arg756=) c.2427C>T (p.Arg809=) c.2030C>T c.1609C>T c.746C>T (p.Ala249Val) c.2124C>T (p.Arg708=) | |
X | g.53985038G>C | CA413252235 | PHF8 | c.2016C>G (p.Arg672=) c.2319C>G (p.Arg773=) c.*774C>G (n.*774C>G) c.*1761C>G (n.*1761C>G) n.1683C>G c.2268C>G (p.Arg756=) c.2427C>G (p.Arg809=) c.2030C>G c.1609C>G c.746C>G (p.Ala249Gly) c.2124C>G (p.Arg708=) | |
X | g.53985038G>T | CA413252236 | PHF8 | c.2016C>A (p.Arg672=) c.2319C>A (p.Arg773=) c.*774C>A (n.*774C>A) c.*1761C>A (n.*1761C>A) n.1683C>A c.2268C>A (p.Arg756=) c.2427C>A (p.Arg809=) c.2030C>A c.1609C>A c.746C>A (p.Ala249Glu) c.2124C>A (p.Arg708=) | |
X | g.53985039C>A | CA413252238 | PHF8 | c.2015G>T (p.Arg672Leu) c.2318G>T (p.Arg773Leu) c.*773G>T (n.*773G>T) c.*1760G>T (n.*1760G>T) n.1682G>T c.2267G>T (p.Arg756Leu) c.2426G>T (p.Arg809Leu) c.2029G>T c.1608G>T c.745G>T (p.Ala249Ser) c.2123G>T (p.Arg708Leu) | |
X | g.53985039C= | CA2430030678 | PHF8 | c.2015G= (p.Arg672=) c.2318G= (p.Arg773=) c.*773G= (n.*773G=) c.*1760G= (n.*1760G=) n.1682G= c.2267G= (p.Arg756=) c.2426G= (p.Arg809=) c.2029G= c.1608G= c.745G= (p.Ala249=) c.2123G= (p.Arg708=) | |
X | g.53985039C>G | CA413252242 | PHF8 | c.2015G>C (p.Arg672Pro) c.2318G>C (p.Arg773Pro) c.*773G>C (n.*773G>C) c.*1760G>C (n.*1760G>C) n.1682G>C c.2267G>C (p.Arg756Pro) c.2426G>C (p.Arg809Pro) c.2029G>C c.1608G>C c.745G>C (p.Ala249Pro) c.2123G>C (p.Arg708Pro) | ClinVar gnomAD v4 |
X | g.53985039C>T | CA10423308 | PHF8 | c.2015G>A (p.Arg672His) c.2318G>A (p.Arg773His) c.*773G>A (n.*773G>A) c.*1760G>A (n.*1760G>A) n.1682G>A c.2267G>A (p.Arg756His) c.2426G>A (p.Arg809His) c.2029G>A c.1608G>A c.745G>A (p.Ala249Thr) c.2123G>A (p.Arg708His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
X | g.53985040G>A | CA413252246 | PHF8 | c.2014C>T (p.Arg672Cys) c.2317C>T (p.Arg773Cys) c.*772C>T (n.*772C>T) c.*1759C>T (n.*1759C>T) n.1681C>T c.2266C>T (p.Arg756Cys) c.2425C>T (p.Arg809Cys) c.2028C>T c.1607C>T c.744C>T (p.Ser248=) c.2122C>T (p.Arg708Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53985040G>C | CA413252249 | PHF8 | c.2014C>G (p.Arg672Gly) c.2317C>G (p.Arg773Gly) c.*772C>G (n.*772C>G) c.*1759C>G (n.*1759C>G) n.1681C>G c.2266C>G (p.Arg756Gly) c.2425C>G (p.Arg809Gly) c.2028C>G c.1607C>G c.744C>G (p.Ser248Arg) c.2122C>G (p.Arg708Gly) | gnomAD v4 |
X | g.53985040G= | CA2430030679 | PHF8 | c.2014C= (p.Arg672=) c.2317C= (p.Arg773=) c.*772C= (n.*772C=) c.*1759C= (n.*1759C=) n.1681C= c.2266C= (p.Arg756=) c.2425C= (p.Arg809=) c.2028C= c.1607C= c.744C= (p.Ser248=) c.2122C= (p.Arg708=) | |
X | g.53985040G>T | CA10423309 | PHF8 | c.2014C>A (p.Arg672Ser) c.2317C>A (p.Arg773Ser) c.*772C>A (n.*772C>A) c.*1759C>A (n.*1759C>A) n.1681C>A c.2266C>A (p.Arg756Ser) c.2425C>A (p.Arg809Ser) c.2028C>A c.1607C>A c.744C>A (p.Ser248Arg) c.2122C>A (p.Arg708Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53985041C>A | CA413252251 | PHF8 | c.2013G>T (p.Gln671His) c.2316G>T (p.Gln772His) c.*771G>T (n.*771G>T) c.*1758G>T (n.*1758G>T) n.1680G>T c.2265G>T (p.Gln755His) c.2424G>T (p.Gln808His) c.2027G>T c.1606G>T c.743G>T (p.Ser248Ile) c.2121G>T (p.Gln707His) | |
X | g.53985041C>G | CA413252252 | PHF8 | c.2013G>C (p.Gln671His) c.2316G>C (p.Gln772His) c.*771G>C (n.*771G>C) c.*1758G>C (n.*1758G>C) n.1680G>C c.2265G>C (p.Gln755His) c.2424G>C (p.Gln808His) c.2027G>C c.1606G>C c.743G>C (p.Ser248Thr) c.2121G>C (p.Gln707His) | |
X | g.53985041C>T | CA413252255 | PHF8 | c.2013G>A (p.Gln671=) c.2316G>A (p.Gln772=) c.*771G>A (n.*771G>A) c.*1758G>A (n.*1758G>A) n.1680G>A c.2265G>A (p.Gln755=) c.2424G>A (p.Gln808=) c.2027G>A c.1606G>A c.743G>A (p.Ser248Asn) c.2121G>A (p.Gln707=) | |
X | g.53985042T>A | CA413252257 | PHF8 | c.2012A>T (p.Gln671Leu) c.2315A>T (p.Gln772Leu) c.*770A>T (n.*770A>T) c.*1757A>T (n.*1757A>T) n.1679A>T c.2264A>T (p.Gln755Leu) c.2423A>T (p.Gln808Leu) c.2026A>T c.1605A>T c.742A>T (p.Ser248Cys) c.2120A>T (p.Gln707Leu) | |
X | g.53985042T>C | CA329924350 | PHF8 | c.2012A>G (p.Gln671Arg) c.2315A>G (p.Gln772Arg) c.*770A>G (n.*770A>G) c.*1757A>G (n.*1757A>G) n.1679A>G c.2264A>G (p.Gln755Arg) c.2423A>G (p.Gln808Arg) c.2026A>G c.1605A>G c.742A>G (p.Ser248Gly) c.2120A>G (p.Gln707Arg) | dbSNP |
X | g.53985042T>G | CA413252259 | PHF8 | c.2012A>C (p.Gln671Pro) c.2315A>C (p.Gln772Pro) c.*770A>C (n.*770A>C) c.*1757A>C (n.*1757A>C) n.1679A>C c.2264A>C (p.Gln755Pro) c.2423A>C (p.Gln808Pro) c.2026A>C c.1605A>C c.742A>C (p.Ser248Arg) c.2120A>C (p.Gln707Pro) | |
X | g.53985042T= | CA2430030680 | PHF8 | c.2012A= (p.Gln671=) c.2315A= (p.Gln772=) c.*770A= (n.*770A=) c.*1757A= (n.*1757A=) n.1679A= c.2264A= (p.Gln755=) c.2423A= (p.Gln808=) c.2026A= c.1605A= c.742A= (p.Ser248=) c.2120A= (p.Gln707=) | |
X | g.53985043G>A | CA413252261 | PHF8 | c.2011C>T (p.Gln671Ter) c.2314C>T (p.Gln772Ter) c.*769C>T (n.*769C>T) c.*1756C>T (n.*1756C>T) n.1678C>T c.2263C>T (p.Gln755Ter) c.2422C>T (p.Gln808Ter) c.2025C>T c.1604C>T c.741C>T (p.Pro247=) c.2119C>T (p.Gln707Ter) | |
X | g.53985043G>C | CA413252263 | PHF8 | c.2011C>G (p.Gln671Glu) c.2314C>G (p.Gln772Glu) c.*769C>G (n.*769C>G) c.*1756C>G (n.*1756C>G) n.1678C>G c.2263C>G (p.Gln755Glu) c.2422C>G (p.Gln808Glu) c.2025C>G c.1604C>G c.741C>G (p.Pro247=) c.2119C>G (p.Gln707Glu) | |
X | g.53985043G= | CA2430030681 | PHF8 | c.2011C= (p.Gln671=) c.2314C= (p.Gln772=) c.*769C= (n.*769C=) c.*1756C= (n.*1756C=) n.1678C= c.2263C= (p.Gln755=) c.2422C= (p.Gln808=) c.2025C= c.1604C= c.741C= (p.Pro247=) c.2119C= (p.Gln707=) | |
X | g.53985043G>T | CA413252264 | PHF8 | c.2011C>A (p.Gln671Lys) c.2314C>A (p.Gln772Lys) c.*769C>A (n.*769C>A) c.*1756C>A (n.*1756C>A) n.1678C>A c.2263C>A (p.Gln755Lys) c.2422C>A (p.Gln808Lys) c.2025C>A c.1604C>A c.741C>A (p.Pro247=) c.2119C>A (p.Gln707Lys) | dbSNP gnomAD v4 |
X | g.53985044G>A | CA10423310 | PHF8 | c.2010C>T (p.Ser670=) c.2313C>T (p.Ser771=) c.*768C>T (n.*768C>T) c.*1755C>T (n.*1755C>T) n.1677C>T c.2262C>T (p.Ser754=) c.2421C>T (p.Ser807=) c.2024C>T c.1603C>T c.740C>T (p.Pro247Leu) c.2118C>T (p.Ser706=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53985044G>C | CA413252269 | PHF8 | c.2010C>G (p.Ser670=) c.2313C>G (p.Ser771=) c.*768C>G (n.*768C>G) c.*1755C>G (n.*1755C>G) n.1677C>G c.2262C>G (p.Ser754=) c.2421C>G (p.Ser807=) c.2024C>G c.1603C>G c.740C>G (p.Pro247Arg) c.2118C>G (p.Ser706=) | |
X | g.53985044G= | CA2430030682 | PHF8 | c.2010C= (p.Ser670=) c.2313C= (p.Ser771=) c.*768C= (n.*768C=) c.*1755C= (n.*1755C=) n.1677C= c.2262C= (p.Ser754=) c.2421C= (p.Ser807=) c.2024C= c.1603C= c.740C= (p.Pro247=) c.2118C= (p.Ser706=) | |
X | g.53985044G>T | CA413252267 | PHF8 | c.2010C>A (p.Ser670=) c.2313C>A (p.Ser771=) c.*768C>A (n.*768C>A) c.*1755C>A (n.*1755C>A) n.1677C>A c.2262C>A (p.Ser754=) c.2421C>A (p.Ser807=) c.2024C>A c.1603C>A c.740C>A (p.Pro247His) c.2118C>A (p.Ser706=) | |
X | g.53985045G>A | CA413252273 | PHF8 | c.2009C>T (p.Ser670Phe) c.2312C>T (p.Ser771Phe) c.*767C>T (n.*767C>T) c.*1754C>T (n.*1754C>T) n.1676C>T c.2261C>T (p.Ser754Phe) c.2420C>T (p.Ser807Phe) c.2023C>T c.1602C>T c.739C>T (p.Pro247Ser) c.2117C>T (p.Ser706Phe) | |
X | g.53985045G>C | CA413252274 | PHF8 | c.2009C>G (p.Ser670Cys) c.2312C>G (p.Ser771Cys) c.*767C>G (n.*767C>G) c.*1754C>G (n.*1754C>G) n.1676C>G c.2261C>G (p.Ser754Cys) c.2420C>G (p.Ser807Cys) c.2023C>G c.1602C>G c.739C>G (p.Pro247Ala) c.2117C>G (p.Ser706Cys) | |
X | g.53985045G>T | CA413252276 | PHF8 | c.2009C>A (p.Ser670Tyr) c.2312C>A (p.Ser771Tyr) c.*767C>A (n.*767C>A) c.*1754C>A (n.*1754C>A) n.1676C>A c.2261C>A (p.Ser754Tyr) c.2420C>A (p.Ser807Tyr) c.2023C>A c.1602C>A c.739C>A (p.Pro247Thr) c.2117C>A (p.Ser706Tyr) | |
X | g.53985046A>C | CA413252279 | PHF8 | c.2008T>G (p.Ser670Ala) c.2311T>G (p.Ser771Ala) c.*766T>G (n.*766T>G) c.*1753T>G (n.*1753T>G) n.1675T>G c.2260T>G (p.Ser754Ala) c.2419T>G (p.Ser807Ala) c.2022T>G c.1601T>G c.738T>G (p.Leu246=) c.2116T>G (p.Ser706Ala) | |
X | g.53985046A>G | CA413252281 | PHF8 | c.2008T>C (p.Ser670Pro) c.2311T>C (p.Ser771Pro) c.*766T>C (n.*766T>C) c.*1753T>C (n.*1753T>C) n.1675T>C c.2260T>C (p.Ser754Pro) c.2419T>C (p.Ser807Pro) c.2022T>C c.1601T>C c.738T>C (p.Leu246=) c.2116T>C (p.Ser706Pro) | gnomAD v4 |
X | g.53985046A>T | CA413252284 | PHF8 | c.2008T>A (p.Ser670Thr) c.2311T>A (p.Ser771Thr) c.*766T>A (n.*766T>A) c.*1753T>A (n.*1753T>A) n.1675T>A c.2260T>A (p.Ser754Thr) c.2419T>A (p.Ser807Thr) c.2022T>A c.1601T>A c.738T>A (p.Leu246=) c.2116T>A (p.Ser706Thr) | |
X | g.53985047A>C | CA413252292 | PHF8 | c.2007T>G (p.Ala669=) c.2310T>G (p.Ala770=) c.*765T>G (n.*765T>G) c.*1752T>G (n.*1752T>G) n.1674T>G c.2259T>G (p.Ala753=) c.2418T>G (p.Ala806=) c.2021T>G c.1600T>G c.737T>G (p.Leu246Arg) c.2115T>G (p.Ala705=) | |
X | g.53985047A>G | CA413252290 | PHF8 | c.2007T>C (p.Ala669=) c.2310T>C (p.Ala770=) c.*765T>C (n.*765T>C) c.*1752T>C (n.*1752T>C) n.1674T>C c.2259T>C (p.Ala753=) c.2418T>C (p.Ala806=) c.2021T>C c.1600T>C c.737T>C (p.Leu246Pro) c.2115T>C (p.Ala705=) | |
X | g.53985047A>T | CA413252287 | PHF8 | c.2007T>A (p.Ala669=) c.2310T>A (p.Ala770=) c.*765T>A (n.*765T>A) c.*1752T>A (n.*1752T>A) n.1674T>A c.2259T>A (p.Ala753=) c.2418T>A (p.Ala806=) c.2021T>A c.1600T>A c.737T>A (p.Leu246His) c.2115T>A (p.Ala705=) | |
X | g.53985048G>A | CA413252294 | PHF8 | c.2006C>T (p.Ala669Val) c.2309C>T (p.Ala770Val) c.*764C>T (n.*764C>T) c.*1751C>T (n.*1751C>T) n.1673C>T c.2258C>T (p.Ala753Val) c.2417C>T (p.Ala806Val) c.2020C>T c.1599C>T c.736C>T (p.Leu246Phe) c.2114C>T (p.Ala705Val) | dbSNP gnomAD v4 |
X | g.53985048G>C | CA413252295 | PHF8 | c.2006C>G (p.Ala669Gly) c.2309C>G (p.Ala770Gly) c.*764C>G (n.*764C>G) c.*1751C>G (n.*1751C>G) n.1673C>G c.2258C>G (p.Ala753Gly) c.2417C>G (p.Ala806Gly) c.2020C>G c.1599C>G c.736C>G (p.Leu246Val) c.2114C>G (p.Ala705Gly) | |
X | g.53985048G>T | CA413252298 | PHF8 | c.2006C>A (p.Ala669Asp) c.2309C>A (p.Ala770Asp) c.*764C>A (n.*764C>A) c.*1751C>A (n.*1751C>A) n.1673C>A c.2258C>A (p.Ala753Asp) c.2417C>A (p.Ala806Asp) c.2020C>A c.1599C>A c.736C>A (p.Leu246Ile) c.2114C>A (p.Ala705Asp) | |
X | g.53985049C>A | CA413252300 | PHF8 | c.2005G>T (p.Ala669Ser) c.2308G>T (p.Ala770Ser) c.*763G>T (n.*763G>T) c.*1750G>T (n.*1750G>T) n.1672G>T c.2257G>T (p.Ala753Ser) c.2416G>T (p.Ala806Ser) c.2019G>T c.1598G>T c.735G>T (p.Leu245=) c.2113G>T (p.Ala705Ser) | COSMIC COSMIC COSMIC COSMIC |
X | g.53985049C>G | CA413252302 | PHF8 | c.2005G>C (p.Ala669Pro) c.2308G>C (p.Ala770Pro) c.*763G>C (n.*763G>C) c.*1750G>C (n.*1750G>C) n.1672G>C c.2257G>C (p.Ala753Pro) c.2416G>C (p.Ala806Pro) c.2019G>C c.1598G>C c.735G>C (p.Leu245=) c.2113G>C (p.Ala705Pro) | ClinVar |
X | g.53985049C>T | CA413252304 | PHF8 | c.2005G>A (p.Ala669Thr) c.2308G>A (p.Ala770Thr) c.*763G>A (n.*763G>A) c.*1750G>A (n.*1750G>A) n.1672G>A c.2257G>A (p.Ala753Thr) c.2416G>A (p.Ala806Thr) c.2019G>A c.1598G>A c.735G>A (p.Leu245=) c.2113G>A (p.Ala705Thr) | |
X | g.53985050A>C | CA413252306 | PHF8 | c.2004T>G (p.Pro668=) c.2307T>G (p.Pro769=) c.*762T>G (n.*762T>G) c.*1749T>G (n.*1749T>G) n.1671T>G c.2256T>G (p.Pro752=) c.2415T>G (p.Pro805=) c.2018T>G c.1597T>G c.734T>G (p.Leu245Arg) c.2112T>G (p.Pro704=) | |
X | g.53985050A>G | CA413252310 | PHF8 | c.2004T>C (p.Pro668=) c.2307T>C (p.Pro769=) c.*762T>C (n.*762T>C) c.*1749T>C (n.*1749T>C) n.1671T>C c.2256T>C (p.Pro752=) c.2415T>C (p.Pro805=) c.2018T>C c.1597T>C c.734T>C (p.Leu245Pro) c.2112T>C (p.Pro704=) | |
X | g.53985050A>T | CA413252308 | PHF8 | c.2004T>A (p.Pro668=) c.2307T>A (p.Pro769=) c.*762T>A (n.*762T>A) c.*1749T>A (n.*1749T>A) n.1671T>A c.2256T>A (p.Pro752=) c.2415T>A (p.Pro805=) c.2018T>A c.1597T>A c.734T>A (p.Leu245Gln) c.2112T>A (p.Pro704=) | |
X | g.53985051G>A | CA413252313 | PHF8 | c.2003C>T (p.Pro668Leu) c.2306C>T (p.Pro769Leu) c.*761C>T (n.*761C>T) c.*1748C>T (n.*1748C>T) n.1670C>T c.2255C>T (p.Pro752Leu) c.2414C>T (p.Pro805Leu) c.2017C>T c.1596C>T c.733C>T (p.Leu245=) c.2111C>T (p.Pro704Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
X | g.53985051G>C | CA413252316 | PHF8 | c.2003C>G (p.Pro668Arg) c.2306C>G (p.Pro769Arg) c.*761C>G (n.*761C>G) c.*1748C>G (n.*1748C>G) n.1670C>G c.2255C>G (p.Pro752Arg) c.2414C>G (p.Pro805Arg) c.2017C>G c.1596C>G c.733C>G (p.Leu245Val) c.2111C>G (p.Pro704Arg) | gnomAD v4 |
X | g.53985051G= | CA2430030683 | PHF8 | c.2003C= (p.Pro668=) c.2306C= (p.Pro769=) c.*761C= (n.*761C=) c.*1748C= (n.*1748C=) n.1670C= c.2255C= (p.Pro752=) c.2414C= (p.Pro805=) c.2017C= c.1596C= c.733C= (p.Leu245=) c.2111C= (p.Pro704=) | |
X | g.53985051G>T | CA413252318 | PHF8 | c.2003C>A (p.Pro668His) c.2306C>A (p.Pro769His) c.*761C>A (n.*761C>A) c.*1748C>A (n.*1748C>A) n.1670C>A c.2255C>A (p.Pro752His) c.2414C>A (p.Pro805His) c.2017C>A c.1596C>A c.733C>A (p.Leu245Met) c.2111C>A (p.Pro704His) | COSMIC COSMIC COSMIC |
X | g.53985052G>A | CA413252321 | PHF8 | c.2002C>T (p.Pro668Ser) c.2305C>T (p.Pro769Ser) c.*760C>T (n.*760C>T) c.*1747C>T (n.*1747C>T) n.1669C>T c.2254C>T (p.Pro752Ser) c.2413C>T (p.Pro805Ser) c.2016C>T c.1595C>T c.732C>T (p.Val244=) c.2110C>T (p.Pro704Ser) | ClinVar gnomAD v4 |
X | g.53985052G>C | CA413252323 | PHF8 | c.2002C>G (p.Pro668Ala) c.2305C>G (p.Pro769Ala) c.*760C>G (n.*760C>G) c.*1747C>G (n.*1747C>G) n.1669C>G c.2254C>G (p.Pro752Ala) c.2413C>G (p.Pro805Ala) c.2016C>G c.1595C>G c.732C>G (p.Val244=) c.2110C>G (p.Pro704Ala) | |
X | g.53985052G>T | CA413252325 | PHF8 | c.2002C>A (p.Pro668Thr) c.2305C>A (p.Pro769Thr) c.*760C>A (n.*760C>A) c.*1747C>A (n.*1747C>A) n.1669C>A c.2254C>A (p.Pro752Thr) c.2413C>A (p.Pro805Thr) c.2016C>A c.1595C>A c.732C>A (p.Val244=) c.2110C>A (p.Pro704Thr) | |
X | g.53985053A>C | CA413252328 | PHF8 | c.2001T>G (p.Ser667Arg) c.2304T>G (p.Ser768Arg) c.*759T>G (n.*759T>G) c.*1746T>G (n.*1746T>G) n.1668T>G c.2253T>G (p.Ser751Arg) c.2412T>G (p.Ser804Arg) c.2015T>G c.1594T>G c.731T>G (p.Val244Gly) c.2109T>G (p.Ser703Arg) | |
X | g.53985053A>G | CA413252331 | PHF8 | c.2001T>C (p.Ser667=) c.2304T>C (p.Ser768=) c.*759T>C (n.*759T>C) c.*1746T>C (n.*1746T>C) n.1668T>C c.2253T>C (p.Ser751=) c.2412T>C (p.Ser804=) c.2015T>C c.1594T>C c.731T>C (p.Val244Ala) c.2109T>C (p.Ser703=) | |
X | g.53985053A>T | CA413252333 | PHF8 | c.2001T>A (p.Ser667Arg) c.2304T>A (p.Ser768Arg) c.*759T>A (n.*759T>A) c.*1746T>A (n.*1746T>A) n.1668T>A c.2253T>A (p.Ser751Arg) c.2412T>A (p.Ser804Arg) c.2015T>A c.1594T>A c.731T>A (p.Val244Asp) c.2109T>A (p.Ser703Arg) | |
X | g.53985054C>A | CA413252336 | PHF8 | c.2000G>T (p.Ser667Ile) c.2303G>T (p.Ser768Ile) c.*758G>T (n.*758G>T) c.*1745G>T (n.*1745G>T) n.1667G>T c.2252G>T (p.Ser751Ile) c.2411G>T (p.Ser804Ile) c.2014G>T c.1593G>T c.730G>T (p.Val244Phe) c.2108G>T (p.Ser703Ile) | |
X | g.53985054C>G | CA413252338 | PHF8 | c.2000G>C (p.Ser667Thr) c.2303G>C (p.Ser768Thr) c.*758G>C (n.*758G>C) c.*1745G>C (n.*1745G>C) n.1667G>C c.2252G>C (p.Ser751Thr) c.2411G>C (p.Ser804Thr) c.2014G>C c.1593G>C c.730G>C (p.Val244Leu) c.2108G>C (p.Ser703Thr) | |
X | g.53985054C>T | CA413252339 | PHF8 | c.2000G>A (p.Ser667Asn) c.2303G>A (p.Ser768Asn) c.*758G>A (n.*758G>A) c.*1745G>A (n.*1745G>A) n.1667G>A c.2252G>A (p.Ser751Asn) c.2411G>A (p.Ser804Asn) c.2014G>A c.1593G>A c.730G>A (p.Val244Ile) c.2108G>A (p.Ser703Asn) | |
X | g.53985055T>A | CA413252343 | PHF8 | c.1999A>T (p.Ser667Cys) c.2302A>T (p.Ser768Cys) c.*757A>T (n.*757A>T) c.*1744A>T (n.*1744A>T) n.1666A>T c.2251A>T (p.Ser751Cys) c.2410A>T (p.Ser804Cys) c.2013A>T c.1592A>T c.729A>T (p.Thr243=) c.2107A>T (p.Ser703Cys) | |
X | g.53985055T>C | CA413252347 | PHF8 | c.1999A>G (p.Ser667Gly) c.2302A>G (p.Ser768Gly) c.*757A>G (n.*757A>G) c.*1744A>G (n.*1744A>G) n.1666A>G c.2251A>G (p.Ser751Gly) c.2410A>G (p.Ser804Gly) c.2013A>G c.1592A>G c.729A>G (p.Thr243=) c.2107A>G (p.Ser703Gly) | |
X | g.53985055T>G | CA413252345 | PHF8 | c.1999A>C (p.Ser667Arg) c.2302A>C (p.Ser768Arg) c.*757A>C (n.*757A>C) c.*1744A>C (n.*1744A>C) n.1666A>C c.2251A>C (p.Ser751Arg) c.2410A>C (p.Ser804Arg) c.2013A>C c.1592A>C c.729A>C (p.Thr243=) c.2107A>C (p.Ser703Arg) | |
X | g.53985056G>A | CA413252349 | PHF8 | c.1998C>T (p.Asn666=) c.2301C>T (p.Asn767=) c.*756C>T (n.*756C>T) c.*1743C>T (n.*1743C>T) n.1665C>T c.2250C>T (p.Asn750=) c.2409C>T (p.Asn803=) c.2012C>T c.1591C>T c.728C>T (p.Thr243Ile) c.2106C>T (p.Asn702=) | |
X | g.53985056G>C | CA413252351 | PHF8 | c.1998C>G (p.Asn666Lys) c.2301C>G (p.Asn767Lys) c.*756C>G (n.*756C>G) c.*1743C>G (n.*1743C>G) n.1665C>G c.2250C>G (p.Asn750Lys) c.2409C>G (p.Asn803Lys) c.2012C>G c.1591C>G c.728C>G (p.Thr243Arg) c.2106C>G (p.Asn702Lys) | |
X | g.53985056G>T | CA413252353 | PHF8 | c.1998C>A (p.Asn666Lys) c.2301C>A (p.Asn767Lys) c.*756C>A (n.*756C>A) c.*1743C>A (n.*1743C>A) n.1665C>A c.2250C>A (p.Asn750Lys) c.2409C>A (p.Asn803Lys) c.2012C>A c.1591C>A c.728C>A (p.Thr243Lys) c.2106C>A (p.Asn702Lys) | |
X | g.53985057T>A | CA413252357 | PHF8 | c.1997A>T (p.Asn666Ile) c.2300A>T (p.Asn767Ile) c.*755A>T (n.*755A>T) c.*1742A>T (n.*1742A>T) n.1664A>T c.2249A>T (p.Asn750Ile) c.2408A>T (p.Asn803Ile) c.2011A>T c.1590A>T c.727A>T (p.Thr243Ser) c.2105A>T (p.Asn702Ile) | |
X | g.53985057T>C | CA413252358 | PHF8 | c.1997A>G (p.Asn666Ser) c.2300A>G (p.Asn767Ser) c.*755A>G (n.*755A>G) c.*1742A>G (n.*1742A>G) n.1664A>G c.2249A>G (p.Asn750Ser) c.2408A>G (p.Asn803Ser) c.2011A>G c.1590A>G c.727A>G (p.Thr243Ala) c.2105A>G (p.Asn702Ser) | |
X | g.53985057T>G | CA413252360 | PHF8 | c.1997A>C (p.Asn666Thr) c.2300A>C (p.Asn767Thr) c.*755A>C (n.*755A>C) c.*1742A>C (n.*1742A>C) n.1664A>C c.2249A>C (p.Asn750Thr) c.2408A>C (p.Asn803Thr) c.2011A>C c.1590A>C c.727A>C (p.Thr243Pro) c.2105A>C (p.Asn702Thr) | |
X | g.53985058del | CA2579619385 | PHF8 | c.1997del (p.Asn666ThrfsTer?) c.2300del (p.Asn767ThrfsTer?) c.*755del (n.*755del) c.*1742del (n.*1742del) n.1664del c.2249del (p.Asn750ThrfsTer?) c.2408del (p.Asn803ThrfsTer?) c.2011del c.1590del c.727del (p.Thr243GlnfsTer?) c.2105del (p.Asn702ThrfsTer?) | |
X | g.53985058T>A | CA413252363 | PHF8 | c.1996A>T (p.Asn666Tyr) c.2299A>T (p.Asn767Tyr) c.*754A>T (n.*754A>T) c.*1741A>T (n.*1741A>T) n.1663A>T c.2248A>T (p.Asn750Tyr) c.2407A>T (p.Asn803Tyr) c.2010A>T c.1589A>T c.726A>T (p.Leu242=) c.2104A>T (p.Asn702Tyr) | |
X | g.53985058T>C | CA10423311 | PHF8 | c.1996A>G (p.Asn666Asp) c.2299A>G (p.Asn767Asp) c.*754A>G (n.*754A>G) c.*1741A>G (n.*1741A>G) n.1663A>G c.2248A>G (p.Asn750Asp) c.2407A>G (p.Asn803Asp) c.2010A>G c.1589A>G c.726A>G (p.Leu242=) c.2104A>G (p.Asn702Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53985058T>G | CA413252366 | PHF8 | c.1996A>C (p.Asn666His) c.2299A>C (p.Asn767His) c.*754A>C (n.*754A>C) c.*1741A>C (n.*1741A>C) n.1663A>C c.2248A>C (p.Asn750His) c.2407A>C (p.Asn803His) c.2010A>C c.1589A>C c.726A>C (p.Leu242=) c.2104A>C (p.Asn702His) | |
X | g.53985058T= | CA2430030684 | PHF8 | c.1996A= (p.Asn666=) c.2299A= (p.Asn767=) c.*754A= (n.*754A=) c.*1741A= (n.*1741A=) n.1663A= c.2248A= (p.Asn750=) c.2407A= (p.Asn803=) c.2010A= c.1589A= c.726A= (p.Leu242=) c.2104A= (p.Asn702=) | |
X | g.53985059A>C | CA413252369 | PHF8 | c.1995T>G (p.Ser665=) c.2298T>G (p.Ser766=) c.*753T>G (n.*753T>G) c.*1740T>G (n.*1740T>G) n.1662T>G c.2247T>G (p.Ser749=) c.2406T>G (p.Ser802=) c.2009T>G c.1588T>G c.725T>G (p.Leu242Arg) c.2103T>G (p.Ser701=) | |
X | g.53985059A>G | CA413252371 | PHF8 | c.1995T>C (p.Ser665=) c.2298T>C (p.Ser766=) c.*753T>C (n.*753T>C) c.*1740T>C (n.*1740T>C) n.1662T>C c.2247T>C (p.Ser749=) c.2406T>C (p.Ser802=) c.2009T>C c.1588T>C c.725T>C (p.Leu242Pro) c.2103T>C (p.Ser701=) | |
X | g.53985059A>T | CA413252373 | PHF8 | c.1995T>A (p.Ser665=) c.2298T>A (p.Ser766=) c.*753T>A (n.*753T>A) c.*1740T>A (n.*1740T>A) n.1662T>A c.2247T>A (p.Ser749=) c.2406T>A (p.Ser802=) c.2009T>A c.1588T>A c.725T>A (p.Leu242Gln) c.2103T>A (p.Ser701=) | |
X | g.53985059dup | CA2693828138 | PHF8 | c.1995dup (p.Asn666Ter) c.2298dup (p.Asn767Ter) c.*753dup (n.*753dup) c.*1740dup (n.*1740dup) n.1662dup c.2247dup (p.Asn750Ter) c.2406dup (p.Asn803Ter) c.2009dup c.1588dup c.725dup (p.Thr243AsnfsTer?) c.2103dup (p.Asn702Ter) | gnomAD v4 |
X | g.53985060G>A | CA413252381 | PHF8 | c.1994C>T (p.Ser665Phe) c.2297C>T (p.Ser766Phe) c.*752C>T (n.*752C>T) c.*1739C>T (n.*1739C>T) n.1661C>T c.2246C>T (p.Ser749Phe) c.2405C>T (p.Ser802Phe) c.2008C>T c.1587C>T c.724C>T (p.Leu242=) c.2102C>T (p.Ser701Phe) | gnomAD v4 |
X | g.53985060G>C | CA413252379 | PHF8 | c.1994C>G (p.Ser665Cys) c.2297C>G (p.Ser766Cys) c.*752C>G (n.*752C>G) c.*1739C>G (n.*1739C>G) n.1661C>G c.2246C>G (p.Ser749Cys) c.2405C>G (p.Ser802Cys) c.2008C>G c.1587C>G c.724C>G (p.Leu242Val) c.2102C>G (p.Ser701Cys) | |
X | g.53985060G>T | CA413252377 | PHF8 | c.1994C>A (p.Ser665Tyr) c.2297C>A (p.Ser766Tyr) c.*752C>A (n.*752C>A) c.*1739C>A (n.*1739C>A) n.1661C>A c.2246C>A (p.Ser749Tyr) c.2405C>A (p.Ser802Tyr) c.2008C>A c.1587C>A c.724C>A (p.Leu242Ile) c.2102C>A (p.Ser701Tyr) | |
X | g.53985061A>C | CA413252384 | PHF8 | c.1993T>G (p.Ser665Ala) c.2296T>G (p.Ser766Ala) c.*751T>G (n.*751T>G) c.*1738T>G (n.*1738T>G) n.1660T>G c.2245T>G (p.Ser749Ala) c.2404T>G (p.Ser802Ala) c.2007T>G c.1586T>G c.723T>G (p.Cys241Trp) c.2101T>G (p.Ser701Ala) | |
X | g.53985061A>G | CA413252386 | PHF8 | c.1993T>C (p.Ser665Pro) c.2296T>C (p.Ser766Pro) c.*751T>C (n.*751T>C) c.*1738T>C (n.*1738T>C) n.1660T>C c.2245T>C (p.Ser749Pro) c.2404T>C (p.Ser802Pro) c.2007T>C c.1586T>C c.723T>C (p.Cys241=) c.2101T>C (p.Ser701Pro) | |
X | g.53985061A>T | CA413252389 | PHF8 | c.1993T>A (p.Ser665Thr) c.2296T>A (p.Ser766Thr) c.*751T>A (n.*751T>A) c.*1738T>A (n.*1738T>A) n.1660T>A c.2245T>A (p.Ser749Thr) c.2404T>A (p.Ser802Thr) c.2007T>A c.1586T>A c.723T>A (p.Cys241Ter) c.2101T>A (p.Ser701Thr) | |
X | g.53985062C>A | CA413252392 | PHF8 | c.1992G>T (p.Val664=) c.2295G>T (p.Val765=) c.*750G>T (n.*750G>T) c.*1737G>T (n.*1737G>T) n.1659G>T c.2244G>T (p.Val748=) c.2403G>T (p.Val801=) c.2006G>T c.1585G>T c.722G>T (p.Cys241Phe) c.2100G>T (p.Val700=) | |
X | g.53985062C>G | CA413252394 | PHF8 | c.1992G>C (p.Val664=) c.2295G>C (p.Val765=) c.*750G>C (n.*750G>C) c.*1737G>C (n.*1737G>C) n.1659G>C c.2244G>C (p.Val748=) c.2403G>C (p.Val801=) c.2006G>C c.1585G>C c.722G>C (p.Cys241Ser) c.2100G>C (p.Val700=) | |
X | g.53985062C>T | CA413252396 | PHF8 | c.1992G>A (p.Val664=) c.2295G>A (p.Val765=) c.*750G>A (n.*750G>A) c.*1737G>A (n.*1737G>A) n.1659G>A c.2244G>A (p.Val748=) c.2403G>A (p.Val801=) c.2006G>A c.1585G>A c.722G>A (p.Cys241Tyr) c.2100G>A (p.Val700=) | |
X | g.53985063A>C | CA413252399 | PHF8 | c.1991T>G (p.Val664Gly) c.2294T>G (p.Val765Gly) c.*749T>G (n.*749T>G) c.*1736T>G (n.*1736T>G) n.1658T>G c.2243T>G (p.Val748Gly) c.2402T>G (p.Val801Gly) c.2005T>G c.1584T>G c.721T>G (p.Cys241Gly) c.2099T>G (p.Val700Gly) | |
X | g.53985063A>G | CA413252401 | PHF8 | c.1991T>C (p.Val664Ala) c.2294T>C (p.Val765Ala) c.*749T>C (n.*749T>C) c.*1736T>C (n.*1736T>C) n.1658T>C c.2243T>C (p.Val748Ala) c.2402T>C (p.Val801Ala) c.2005T>C c.1584T>C c.721T>C (p.Cys241Arg) c.2099T>C (p.Val700Ala) | |
X | g.53985063A>T | CA413252403 | PHF8 | c.1991T>A (p.Val664Glu) c.2294T>A (p.Val765Glu) c.*749T>A (n.*749T>A) c.*1736T>A (n.*1736T>A) n.1658T>A c.2243T>A (p.Val748Glu) c.2402T>A (p.Val801Glu) c.2005T>A c.1584T>A c.721T>A (p.Cys241Ser) c.2099T>A (p.Val700Glu) | |
X | g.53985064C>A | CA413252406 | PHF8 | c.1990G>T (p.Val664Leu) c.2293G>T (p.Val765Leu) c.*748G>T (n.*748G>T) c.*1735G>T (n.*1735G>T) n.1657G>T c.2242G>T (p.Val748Leu) c.2401G>T (p.Val801Leu) c.2004G>T c.1583G>T c.720G>T (p.Gln240His) c.2098G>T (p.Val700Leu) | |
X | g.53985064C>G | CA413252408 | PHF8 | c.1990G>C (p.Val664Leu) c.2293G>C (p.Val765Leu) c.*748G>C (n.*748G>C) c.*1735G>C (n.*1735G>C) n.1657G>C c.2242G>C (p.Val748Leu) c.2401G>C (p.Val801Leu) c.2004G>C c.1583G>C c.720G>C (p.Gln240His) c.2098G>C (p.Val700Leu) | |
X | g.53985064C>T | CA413252410 | PHF8 | c.1990G>A (p.Val664Met) c.2293G>A (p.Val765Met) c.*748G>A (n.*748G>A) c.*1735G>A (n.*1735G>A) n.1657G>A c.2242G>A (p.Val748Met) c.2401G>A (p.Val801Met) c.2004G>A c.1583G>A c.720G>A (p.Gln240=) c.2098G>A (p.Val700Met) | |
X | g.53985065T>A | CA413252417 | PHF8 | c.1989A>T (p.Thr663=) c.2292A>T (p.Thr764=) c.*747A>T (n.*747A>T) c.*1734A>T (n.*1734A>T) n.1656A>T c.2241A>T (p.Thr747=) c.2400A>T (p.Thr800=) c.2003A>T c.1582A>T c.719A>T (p.Gln240Leu) c.2097A>T (p.Thr699=) | |
X | g.53985065T>C | CA10423312 | PHF8 | c.1989A>G (p.Thr663=) c.2292A>G (p.Thr764=) c.*747A>G (n.*747A>G) c.*1734A>G (n.*1734A>G) n.1656A>G c.2241A>G (p.Thr747=) c.2400A>G (p.Thr800=) c.2003A>G c.1582A>G c.719A>G (p.Gln240Arg) c.2097A>G (p.Thr699=) | dbSNP ExAC gnomAD v2 |
X | g.53985065T>G | CA413252415 | PHF8 | c.1989A>C (p.Thr663=) c.2292A>C (p.Thr764=) c.*747A>C (n.*747A>C) c.*1734A>C (n.*1734A>C) n.1656A>C c.2241A>C (p.Thr747=) c.2400A>C (p.Thr800=) c.2003A>C c.1582A>C c.719A>C (p.Gln240Pro) c.2097A>C (p.Thr699=) | |
X | g.53985065T= | CA2430030685 | PHF8 | c.1989A= (p.Thr663=) c.2292A= (p.Thr764=) c.*747A= (n.*747A=) c.*1734A= (n.*1734A=) n.1656A= c.2241A= (p.Thr747=) c.2400A= (p.Thr800=) c.2003A= c.1582A= c.719A= (p.Gln240=) c.2097A= (p.Thr699=) | |
X | g.53985066G>A | CA413252420 | PHF8 | c.1988C>T (p.Thr663Ile) c.2291C>T (p.Thr764Ile) c.*746C>T (n.*746C>T) c.*1733C>T (n.*1733C>T) n.1655C>T c.2240C>T (p.Thr747Ile) c.2399C>T (p.Thr800Ile) c.2002C>T c.1581C>T c.718C>T (p.Gln240Ter) c.2096C>T (p.Thr699Ile) | |
X | g.53985066G>C | CA413252425 | PHF8 | c.1988C>G (p.Thr663Arg) c.2291C>G (p.Thr764Arg) c.*746C>G (n.*746C>G) c.*1733C>G (n.*1733C>G) n.1655C>G c.2240C>G (p.Thr747Arg) c.2399C>G (p.Thr800Arg) c.2002C>G c.1581C>G c.718C>G (p.Gln240Glu) c.2096C>G (p.Thr699Arg) | |
X | g.53985066G= | CA2430030686 | PHF8 | c.1988C= (p.Thr663=) c.2291C= (p.Thr764=) c.*746C= (n.*746C=) c.*1733C= (n.*1733C=) n.1655C= c.2240C= (p.Thr747=) c.2399C= (p.Thr800=) c.2002C= c.1581C= c.718C= (p.Gln240=) c.2096C= (p.Thr699=) | |
X | g.53985066G>T | CA10423313 | PHF8 | c.1988C>A (p.Thr663Lys) c.2291C>A (p.Thr764Lys) c.*746C>A (n.*746C>A) c.*1733C>A (n.*1733C>A) n.1655C>A c.2240C>A (p.Thr747Lys) c.2399C>A (p.Thr800Lys) c.2002C>A c.1581C>A c.718C>A (p.Gln240Lys) c.2096C>A (p.Thr699Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53985067T>A | CA413252428 | PHF8 | c.1987A>T (p.Thr663Ser) c.2290A>T (p.Thr764Ser) c.*745A>T (n.*745A>T) c.*1732A>T (n.*1732A>T) n.1654A>T c.2239A>T (p.Thr747Ser) c.2398A>T (p.Thr800Ser) c.2001A>T c.1580A>T c.717A>T (p.Ala239=) c.2095A>T (p.Thr699Ser) | |
X | g.53985067T>C | CA10423314 | PHF8 | c.1987A>G (p.Thr663Ala) c.2290A>G (p.Thr764Ala) c.*745A>G (n.*745A>G) c.*1732A>G (n.*1732A>G) n.1654A>G c.2239A>G (p.Thr747Ala) c.2398A>G (p.Thr800Ala) c.2001A>G c.1580A>G c.717A>G (p.Ala239=) c.2095A>G (p.Thr699Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53985067T>G | CA413252432 | PHF8 | c.1987A>C (p.Thr663Pro) c.2290A>C (p.Thr764Pro) c.*745A>C (n.*745A>C) c.*1732A>C (n.*1732A>C) n.1654A>C c.2239A>C (p.Thr747Pro) c.2398A>C (p.Thr800Pro) c.2001A>C c.1580A>C c.717A>C (p.Ala239=) c.2095A>C (p.Thr699Pro) | dbSNP gnomAD v2 gnomAD v4 |
X | g.53985067T= | CA2430030687 | PHF8 | c.1987A= (p.Thr663=) c.2290A= (p.Thr764=) c.*745A= (n.*745A=) c.*1732A= (n.*1732A=) n.1654A= c.2239A= (p.Thr747=) c.2398A= (p.Thr800=) c.2001A= c.1580A= c.717A= (p.Ala239=) c.2095A= (p.Thr699=) | |
X | g.53985068G>A | CA413252435 | PHF8 | c.1986C>T (p.Gly662=) c.2289C>T (p.Gly763=) c.*744C>T (n.*744C>T) c.*1731C>T (n.*1731C>T) n.1653C>T c.2238C>T (p.Gly746=) c.2397C>T (p.Gly799=) c.2000C>T c.1579C>T c.716C>T (p.Ala239Val) c.2094C>T (p.Gly698=) | |
X | g.53985068G>C | CA413252438 | PHF8 | c.1986C>G (p.Gly662=) c.2289C>G (p.Gly763=) c.*744C>G (n.*744C>G) c.*1731C>G (n.*1731C>G) n.1653C>G c.2238C>G (p.Gly746=) c.2397C>G (p.Gly799=) c.2000C>G c.1579C>G c.716C>G (p.Ala239Gly) c.2094C>G (p.Gly698=) | |
X | g.53985068G>T | CA413252440 | PHF8 | c.1986C>A (p.Gly662=) c.2289C>A (p.Gly763=) c.*744C>A (n.*744C>A) c.*1731C>A (n.*1731C>A) n.1653C>A c.2238C>A (p.Gly746=) c.2397C>A (p.Gly799=) c.2000C>A c.1579C>A c.716C>A (p.Ala239Glu) c.2094C>A (p.Gly698=) | |
X | g.53985069C>A | CA413252443 | PHF8 | c.1985G>T (p.Gly662Val) c.2288G>T (p.Gly763Val) c.*743G>T (n.*743G>T) c.*1730G>T (n.*1730G>T) n.1652G>T c.2237G>T (p.Gly746Val) c.2396G>T (p.Gly799Val) c.1999G>T c.1578G>T c.715G>T (p.Ala239Ser) c.2093G>T (p.Gly698Val) | |
X | g.53985069C>G | CA413252445 | PHF8 | c.1985G>C (p.Gly662Ala) c.2288G>C (p.Gly763Ala) c.*743G>C (n.*743G>C) c.*1730G>C (n.*1730G>C) n.1652G>C c.2237G>C (p.Gly746Ala) c.2396G>C (p.Gly799Ala) c.1999G>C c.1578G>C c.715G>C (p.Ala239Pro) c.2093G>C (p.Gly698Ala) | |
X | g.53985069C>T | CA413252448 | PHF8 | c.1985G>A (p.Gly662Asp) c.2288G>A (p.Gly763Asp) c.*743G>A (n.*743G>A) c.*1730G>A (n.*1730G>A) n.1652G>A c.2237G>A (p.Gly746Asp) c.2396G>A (p.Gly799Asp) c.1999G>A c.1578G>A c.715G>A (p.Ala239Thr) c.2093G>A (p.Gly698Asp) | |
X | g.53985070C>A | CA413252450 | PHF8 | c.1984G>T (p.Gly662Cys) c.2287G>T (p.Gly763Cys) c.*742G>T (n.*742G>T) c.*1729G>T (n.*1729G>T) n.1651G>T c.2236G>T (p.Gly746Cys) c.2395G>T (p.Gly799Cys) c.1998G>T c.1577G>T c.714G>T (p.Trp238Cys) c.2092G>T (p.Gly698Cys) | |
X | g.53985070C>G | CA413252453 | PHF8 | c.1984G>C (p.Gly662Arg) c.2287G>C (p.Gly763Arg) c.*742G>C (n.*742G>C) c.*1729G>C (n.*1729G>C) n.1651G>C c.2236G>C (p.Gly746Arg) c.2395G>C (p.Gly799Arg) c.1998G>C c.1577G>C c.714G>C (p.Trp238Cys) c.2092G>C (p.Gly698Arg) | |
X | g.53985070C>T | CA413252455 | PHF8 | c.1984G>A (p.Gly662Ser) c.2287G>A (p.Gly763Ser) c.*742G>A (n.*742G>A) c.*1729G>A (n.*1729G>A) n.1651G>A c.2236G>A (p.Gly746Ser) c.2395G>A (p.Gly799Ser) c.1998G>A c.1577G>A c.714G>A (p.Trp238Ter) c.2092G>A (p.Gly698Ser) | |
X | g.53985071C>A | CA413252463 | PHF8 | c.1983G>T (p.Leu661=) c.2286G>T (p.Leu762=) c.*741G>T (n.*741G>T) c.*1728G>T (n.*1728G>T) n.1650G>T c.2235G>T (p.Leu745=) c.2394G>T (p.Leu798=) c.1997G>T c.1576G>T c.713G>T (p.Trp238Leu) c.2091G>T (p.Leu697=) | |
X | g.53985071C>G | CA413252458 | PHF8 | c.1983G>C (p.Leu661=) c.2286G>C (p.Leu762=) c.*741G>C (n.*741G>C) c.*1728G>C (n.*1728G>C) n.1650G>C c.2235G>C (p.Leu745=) c.2394G>C (p.Leu798=) c.1997G>C c.1576G>C c.713G>C (p.Trp238Ser) c.2091G>C (p.Leu697=) | |
X | g.53985071C>T | CA413252460 | PHF8 | c.1983G>A (p.Leu661=) c.2286G>A (p.Leu762=) c.*741G>A (n.*741G>A) c.*1728G>A (n.*1728G>A) n.1650G>A c.2235G>A (p.Leu745=) c.2394G>A (p.Leu798=) c.1997G>A c.1576G>A c.713G>A (p.Trp238Ter) c.2091G>A (p.Leu697=) | |
X | g.53985072A>C | CA413252466 | PHF8 | c.1982T>G (p.Leu661Arg) c.2285T>G (p.Leu762Arg) c.*740T>G (n.*740T>G) c.*1727T>G (n.*1727T>G) n.1649T>G c.2234T>G (p.Leu745Arg) c.2393T>G (p.Leu798Arg) c.1996T>G c.1575T>G c.712T>G (p.Trp238Gly) c.2090T>G (p.Leu697Arg) | |
X | g.53985072A>G | CA413252468 | PHF8 | c.1982T>C (p.Leu661Pro) c.2285T>C (p.Leu762Pro) c.*740T>C (n.*740T>C) c.*1727T>C (n.*1727T>C) n.1649T>C c.2234T>C (p.Leu745Pro) c.2393T>C (p.Leu798Pro) c.1996T>C c.1575T>C c.712T>C (p.Trp238Arg) c.2090T>C (p.Leu697Pro) | |
X | g.53985072A>T | CA413252470 | PHF8 | c.1982T>A (p.Leu661Gln) c.2285T>A (p.Leu762Gln) c.*740T>A (n.*740T>A) c.*1727T>A (n.*1727T>A) n.1649T>A c.2234T>A (p.Leu745Gln) c.2393T>A (p.Leu798Gln) c.1996T>A c.1575T>A c.712T>A (p.Trp238Arg) c.2090T>A (p.Leu697Gln) | |
X | g.53985073G>A | CA516688920 | PHF8 | c.1981C>T (p.Leu661=) c.2284C>T (p.Leu762=) c.*739C>T (n.*739C>T) c.*1726C>T (n.*1726C>T) n.1648C>T c.2233C>T (p.Leu745=) c.2392C>T (p.Leu798=) c.1995C>T c.1574C>T c.711C>T (p.Gly237=) c.2089C>T (p.Leu697=) | COSMIC COSMIC COSMIC COSMIC |
X | g.53985073G>C | CA413252473 | PHF8 | c.1981C>G (p.Leu661Val) c.2284C>G (p.Leu762Val) c.*739C>G (n.*739C>G) c.*1726C>G (n.*1726C>G) n.1648C>G c.2233C>G (p.Leu745Val) c.2392C>G (p.Leu798Val) c.1995C>G c.1574C>G c.711C>G (p.Gly237=) c.2089C>G (p.Leu697Val) | |
X | g.53985073G= | CA2430030688 | PHF8 | c.1981C= (p.Leu661=) c.2284C= (p.Leu762=) c.*739C= (n.*739C=) c.*1726C= (n.*1726C=) n.1648C= c.2233C= (p.Leu745=) c.2392C= (p.Leu798=) c.1995C= c.1574C= c.711C= (p.Gly237=) c.2089C= (p.Leu697=) | |
X | g.53985073G>T | CA10423315 | PHF8 | c.1981C>A (p.Leu661Met) c.2284C>A (p.Leu762Met) c.*739C>A (n.*739C>A) c.*1726C>A (n.*1726C>A) n.1648C>A c.2233C>A (p.Leu745Met) c.2392C>A (p.Leu798Met) c.1995C>A c.1574C>A c.711C>A (p.Gly237=) c.2089C>A (p.Leu697Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53985074C>A | CA413252477 | PHF8 | c.1980G>T (p.Gly660=) c.2283G>T (p.Gly761=) c.*738G>T (n.*738G>T) c.*1725G>T (n.*1725G>T) n.1647G>T c.2232G>T (p.Gly744=) c.2391G>T (p.Gly797=) c.1994G>T c.1573G>T c.710G>T (p.Gly237Val) c.2088G>T (p.Gly696=) | |
X | g.53985074C>G | CA413252479 | PHF8 | c.1980G>C (p.Gly660=) c.2283G>C (p.Gly761=) c.*738G>C (n.*738G>C) c.*1725G>C (n.*1725G>C) n.1647G>C c.2232G>C (p.Gly744=) c.2391G>C (p.Gly797=) c.1994G>C c.1573G>C c.710G>C (p.Gly237Ala) c.2088G>C (p.Gly696=) | gnomAD v4 |
X | g.53985074C>T | CA413252483 | PHF8 | c.1980G>A (p.Gly660=) c.2283G>A (p.Gly761=) c.*738G>A (n.*738G>A) c.*1725G>A (n.*1725G>A) n.1647G>A c.2232G>A (p.Gly744=) c.2391G>A (p.Gly797=) c.1994G>A c.1573G>A c.710G>A (p.Gly237Asp) c.2088G>A (p.Gly696=) | gnomAD v4 |
X | g.53985075C>A | CA413252486 | PHF8 | c.1979G>T (p.Gly660Val) c.2282G>T (p.Gly761Val) c.*737G>T (n.*737G>T) c.*1724G>T (n.*1724G>T) n.1646G>T c.2231G>T (p.Gly744Val) c.2390G>T (p.Gly797Val) c.1993G>T c.1572G>T c.709G>T (p.Gly237Cys) c.2087G>T (p.Gly696Val) | |
X | g.53985075C>G | CA413252488 | PHF8 | c.1979G>C (p.Gly660Ala) c.2282G>C (p.Gly761Ala) c.*737G>C (n.*737G>C) c.*1724G>C (n.*1724G>C) n.1646G>C c.2231G>C (p.Gly744Ala) c.2390G>C (p.Gly797Ala) c.1993G>C c.1572G>C c.709G>C (p.Gly237Arg) c.2087G>C (p.Gly696Ala) | |
X | g.53985075C>T | CA413252490 | PHF8 | c.1979G>A (p.Gly660Glu) c.2282G>A (p.Gly761Glu) c.*737G>A (n.*737G>A) c.*1724G>A (n.*1724G>A) n.1646G>A c.2231G>A (p.Gly744Glu) c.2390G>A (p.Gly797Glu) c.1993G>A c.1572G>A c.709G>A (p.Gly237Ser) c.2087G>A (p.Gly696Glu) | |
X | g.53985076C>A | CA413252498 | PHF8 | c.1978G>T (p.Gly660Trp) c.2281G>T (p.Gly761Trp) c.*736G>T (n.*736G>T) c.*1723G>T (n.*1723G>T) n.1645G>T c.2230G>T (p.Gly744Trp) c.2389G>T (p.Gly797Trp) c.1992G>T c.1571G>T c.708G>T (p.Val236=) c.2086G>T (p.Gly696Trp) | |
X | g.53985076C>G | CA413252496 | PHF8 | c.1978G>C (p.Gly660Arg) c.2281G>C (p.Gly761Arg) c.*736G>C (n.*736G>C) c.*1723G>C (n.*1723G>C) n.1645G>C c.2230G>C (p.Gly744Arg) c.2389G>C (p.Gly797Arg) c.1992G>C c.1571G>C c.708G>C (p.Val236=) c.2086G>C (p.Gly696Arg) | |
X | g.53985076C>T | CA413252494 | PHF8 | c.1978G>A (p.Gly660Arg) c.2281G>A (p.Gly761Arg) c.*736G>A (n.*736G>A) c.*1723G>A (n.*1723G>A) n.1645G>A c.2230G>A (p.Gly744Arg) c.2389G>A (p.Gly797Arg) c.1992G>A c.1571G>A c.708G>A (p.Val236=) c.2086G>A (p.Gly696Arg) | |
X | g.53985077A= | CA2430030689 | PHF8 | c.1977T= (p.Ser659=) c.2280T= (p.Ser760=) c.*735T= (n.*735T=) c.*1722T= (n.*1722T=) n.1644T= c.2229T= (p.Ser743=) c.2388T= (p.Ser796=) c.1991T= c.1570T= c.707T= (p.Val236=) c.2085T= (p.Ser695=) | |
X | g.53985077A>C | CA413252504 | PHF8 | c.1977T>G (p.Ser659Arg) c.2280T>G (p.Ser760Arg) c.*735T>G (n.*735T>G) c.*1722T>G (n.*1722T>G) n.1644T>G c.2229T>G (p.Ser743Arg) c.2388T>G (p.Ser796Arg) c.1991T>G c.1570T>G c.707T>G (p.Val236Gly) c.2085T>G (p.Ser695Arg) | |
X | g.53985077A>G | CA413252501 | PHF8 | c.1977T>C (p.Ser659=) c.2280T>C (p.Ser760=) c.*735T>C (n.*735T>C) c.*1722T>C (n.*1722T>C) n.1644T>C c.2229T>C (p.Ser743=) c.2388T>C (p.Ser796=) c.1991T>C c.1570T>C c.707T>C (p.Val236Ala) c.2085T>C (p.Ser695=) | dbSNP gnomAD v4 |
X | g.53985077A>T | CA413252503 | PHF8 | c.1977T>A (p.Ser659Arg) c.2280T>A (p.Ser760Arg) c.*735T>A (n.*735T>A) c.*1722T>A (n.*1722T>A) n.1644T>A c.2229T>A (p.Ser743Arg) c.2388T>A (p.Ser796Arg) c.1991T>A c.1570T>A c.707T>A (p.Val236Glu) c.2085T>A (p.Ser695Arg) | |
X | g.53985078C>A | CA413252507 | PHF8 | c.1976G>T (p.Ser659Ile) c.2279G>T (p.Ser760Ile) c.*734G>T (n.*734G>T) c.*1721G>T (n.*1721G>T) n.1643G>T c.2228G>T (p.Ser743Ile) c.2387G>T (p.Ser796Ile) c.1990G>T c.1569G>T c.706G>T (p.Val236Leu) c.2084G>T (p.Ser695Ile) | |
X | g.53985078C>G | CA413252509 | PHF8 | c.1976G>C (p.Ser659Thr) c.2279G>C (p.Ser760Thr) c.*734G>C (n.*734G>C) c.*1721G>C (n.*1721G>C) n.1643G>C c.2228G>C (p.Ser743Thr) c.2387G>C (p.Ser796Thr) c.1990G>C c.1569G>C c.706G>C (p.Val236Leu) c.2084G>C (p.Ser695Thr) | |
X | g.53985078C>T | CA413252511 | PHF8 | c.1976G>A (p.Ser659Asn) c.2279G>A (p.Ser760Asn) c.*734G>A (n.*734G>A) c.*1721G>A (n.*1721G>A) n.1643G>A c.2228G>A (p.Ser743Asn) c.2387G>A (p.Ser796Asn) c.1990G>A c.1569G>A c.706G>A (p.Val236Met) c.2084G>A (p.Ser695Asn) | |
X | g.53985079T>A | CA413252519 | PHF8 | c.1975A>T (p.Ser659Cys) c.2278A>T (p.Ser760Cys) c.*733A>T (n.*733A>T) c.*1720A>T (n.*1720A>T) n.1642A>T c.2227A>T (p.Ser743Cys) c.2386A>T (p.Ser796Cys) c.1989A>T c.1568A>T c.705A>T (p.Ala235=) c.2083A>T (p.Ser695Cys) | |
X | g.53985079T>C | CA413252517 | PHF8 | c.1975A>G (p.Ser659Gly) c.2278A>G (p.Ser760Gly) c.*733A>G (n.*733A>G) c.*1720A>G (n.*1720A>G) n.1642A>G c.2227A>G (p.Ser743Gly) c.2386A>G (p.Ser796Gly) c.1989A>G c.1568A>G c.705A>G (p.Ala235=) c.2083A>G (p.Ser695Gly) | |
X | g.53985079T>G | CA413252514 | PHF8 | c.1975A>C (p.Ser659Arg) c.2278A>C (p.Ser760Arg) c.*733A>C (n.*733A>C) c.*1720A>C (n.*1720A>C) n.1642A>C c.2227A>C (p.Ser743Arg) c.2386A>C (p.Ser796Arg) c.1989A>C c.1568A>C c.705A>C (p.Ala235=) c.2083A>C (p.Ser695Arg) | |
X | g.53985080G>A | CA413252522 | PHF8 | c.1974C>T (p.Ser658=) c.2277C>T (p.Ser759=) c.*732C>T (n.*732C>T) c.*1719C>T (n.*1719C>T) n.1641C>T c.2226C>T (p.Ser742=) c.2385C>T (p.Ser795=) c.1988C>T c.1567C>T c.704C>T (p.Ala235Val) c.2082C>T (p.Ser694=) | |
X | g.53985080G>C | CA413252523 | PHF8 | c.1974C>G (p.Ser658Arg) c.2277C>G (p.Ser759Arg) c.*732C>G (n.*732C>G) c.*1719C>G (n.*1719C>G) n.1641C>G c.2226C>G (p.Ser742Arg) c.2385C>G (p.Ser795Arg) c.1988C>G c.1567C>G c.704C>G (p.Ala235Gly) c.2082C>G (p.Ser694Arg) | |
X | g.53985080G>T | CA413252526 | PHF8 | c.1974C>A (p.Ser658Arg) c.2277C>A (p.Ser759Arg) c.*732C>A (n.*732C>A) c.*1719C>A (n.*1719C>A) n.1641C>A c.2226C>A (p.Ser742Arg) c.2385C>A (p.Ser795Arg) c.1988C>A c.1567C>A c.704C>A (p.Ala235Glu) c.2082C>A (p.Ser694Arg) | |
X | g.53985081C>A | CA413252529 | PHF8 | c.1973G>T (p.Ser658Ile) c.2276G>T (p.Ser759Ile) c.*731G>T (n.*731G>T) c.*1718G>T (n.*1718G>T) n.1640G>T c.2225G>T (p.Ser742Ile) c.2384G>T (p.Ser795Ile) c.1987G>T c.1566G>T c.703G>T (p.Ala235Ser) c.2081G>T (p.Ser694Ile) | |
X | g.53985081C= | CA2430030690 | PHF8 | c.1973G= (p.Ser658=) c.2276G= (p.Ser759=) c.*731G= (n.*731G=) c.*1718G= (n.*1718G=) n.1640G= c.2225G= (p.Ser742=) c.2384G= (p.Ser795=) c.1987G= c.1566G= c.703G= (p.Ala235=) c.2081G= (p.Ser694=) | |
X | g.53985081C>G | CA10423316 | PHF8 | c.1973G>C (p.Ser658Thr) c.2276G>C (p.Ser759Thr) c.*731G>C (n.*731G>C) c.*1718G>C (n.*1718G>C) n.1640G>C c.2225G>C (p.Ser742Thr) c.2384G>C (p.Ser795Thr) c.1987G>C c.1566G>C c.703G>C (p.Ala235Pro) c.2081G>C (p.Ser694Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53985081C>T | CA413252533 | PHF8 | c.1973G>A (p.Ser658Asn) c.2276G>A (p.Ser759Asn) c.*731G>A (n.*731G>A) c.*1718G>A (n.*1718G>A) n.1640G>A c.2225G>A (p.Ser742Asn) c.2384G>A (p.Ser795Asn) c.1987G>A c.1566G>A c.703G>A (p.Ala235Thr) c.2081G>A (p.Ser694Asn) | gnomAD v4 |
X | g.53985082T>A | CA413252536 | PHF8 | c.1972A>T (p.Ser658Cys) c.2275A>T (p.Ser759Cys) c.*730A>T (n.*730A>T) c.*1717A>T (n.*1717A>T) n.1639A>T c.2224A>T (p.Ser742Cys) c.2383A>T (p.Ser795Cys) c.1986A>T c.1565A>T c.702A>T (p.Pro234=) c.2080A>T (p.Ser694Cys) | |
X | g.53985082T>C | CA413252540 | PHF8 | c.1972A>G (p.Ser658Gly) c.2275A>G (p.Ser759Gly) c.*730A>G (n.*730A>G) c.*1717A>G (n.*1717A>G) n.1639A>G c.2224A>G (p.Ser742Gly) c.2383A>G (p.Ser795Gly) c.1986A>G c.1565A>G c.702A>G (p.Pro234=) c.2080A>G (p.Ser694Gly) | |
X | g.53985082T>G | CA413252538 | PHF8 | c.1972A>C (p.Ser658Arg) c.2275A>C (p.Ser759Arg) c.*730A>C (n.*730A>C) c.*1717A>C (n.*1717A>C) n.1639A>C c.2224A>C (p.Ser742Arg) c.2383A>C (p.Ser795Arg) c.1986A>C c.1565A>C c.702A>C (p.Pro234=) c.2080A>C (p.Ser694Arg) | |
X | g.53985083G>A | CA413252542 | PHF8 | c.1971C>T (p.Ser657=) c.2274C>T (p.Ser758=) c.*729C>T (n.*729C>T) c.*1716C>T (n.*1716C>T) n.1638C>T c.2223C>T (p.Ser741=) c.2382C>T (p.Ser794=) c.1985C>T c.1564C>T c.701C>T (p.Pro234Leu) c.2079C>T (p.Ser693=) | gnomAD v4 |
X | g.53985083G>C | CA413252544 | PHF8 | c.1971C>G (p.Ser657=) c.2274C>G (p.Ser758=) c.*729C>G (n.*729C>G) c.*1716C>G (n.*1716C>G) n.1638C>G c.2223C>G (p.Ser741=) c.2382C>G (p.Ser794=) c.1985C>G c.1564C>G c.701C>G (p.Pro234Arg) c.2079C>G (p.Ser693=) | |
X | g.53985083G>T | CA413252546 | PHF8 | c.1971C>A (p.Ser657=) c.2274C>A (p.Ser758=) c.*729C>A (n.*729C>A) c.*1716C>A (n.*1716C>A) n.1638C>A c.2223C>A (p.Ser741=) c.2382C>A (p.Ser794=) c.1985C>A c.1564C>A c.701C>A (p.Pro234Gln) c.2079C>A (p.Ser693=) | |
X | g.53985084G>A | CA413252549 | PHF8 | c.1970C>T (p.Ser657Phe) c.2273C>T (p.Ser758Phe) c.*728C>T (n.*728C>T) c.*1715C>T (n.*1715C>T) n.1637C>T c.2222C>T (p.Ser741Phe) c.2381C>T (p.Ser794Phe) c.1984C>T c.1563C>T c.700C>T (p.Pro234Ser) c.2078C>T (p.Ser693Phe) | gnomAD v4 |
X | g.53985084G>C | CA10423317 | PHF8 | c.1970C>G (p.Ser657Cys) c.2273C>G (p.Ser758Cys) c.*728C>G (n.*728C>G) c.*1715C>G (n.*1715C>G) n.1637C>G c.2222C>G (p.Ser741Cys) c.2381C>G (p.Ser794Cys) c.1984C>G c.1563C>G c.700C>G (p.Pro234Ala) c.2078C>G (p.Ser693Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53985084G= | CA2430030691 | PHF8 | c.1970C= (p.Ser657=) c.2273C= (p.Ser758=) c.*728C= (n.*728C=) c.*1715C= (n.*1715C=) n.1637C= c.2222C= (p.Ser741=) c.2381C= (p.Ser794=) c.1984C= c.1563C= c.700C= (p.Pro234=) c.2078C= (p.Ser693=) | |
X | g.53985084G>T | CA413252553 | PHF8 | c.1970C>A (p.Ser657Tyr) c.2273C>A (p.Ser758Tyr) c.*728C>A (n.*728C>A) c.*1715C>A (n.*1715C>A) n.1637C>A c.2222C>A (p.Ser741Tyr) c.2381C>A (p.Ser794Tyr) c.1984C>A c.1563C>A c.700C>A (p.Pro234Thr) c.2078C>A (p.Ser693Tyr) | |
X | g.53985085A>C | CA413252557 | PHF8 | c.1969T>G (p.Ser657Ala) c.2272T>G (p.Ser758Ala) c.*727T>G (n.*727T>G) c.*1714T>G (n.*1714T>G) n.1636T>G c.2221T>G (p.Ser741Ala) c.2380T>G (p.Ser794Ala) c.1983T>G c.1562T>G c.699T>G (p.Ala233=) c.2077T>G (p.Ser693Ala) | |
X | g.53985085A>G | CA413252559 | PHF8 | c.1969T>C (p.Ser657Pro) c.2272T>C (p.Ser758Pro) c.*727T>C (n.*727T>C) c.*1714T>C (n.*1714T>C) n.1636T>C c.2221T>C (p.Ser741Pro) c.2380T>C (p.Ser794Pro) c.1983T>C c.1562T>C c.699T>C (p.Ala233=) c.2077T>C (p.Ser693Pro) | |
X | g.53985085A>T | CA413252561 | PHF8 | c.1969T>A (p.Ser657Thr) c.2272T>A (p.Ser758Thr) c.*727T>A (n.*727T>A) c.*1714T>A (n.*1714T>A) n.1636T>A c.2221T>A (p.Ser741Thr) c.2380T>A (p.Ser794Thr) c.1983T>A c.1562T>A c.699T>A (p.Ala233=) c.2077T>A (p.Ser693Thr) | |
X | g.53985086G>A | CA413252564 | PHF8 | c.1968C>T (p.Ser656=) c.2271C>T (p.Ser757=) c.*726C>T (n.*726C>T) c.*1713C>T (n.*1713C>T) n.1635C>T c.2220C>T (p.Ser740=) c.2379C>T (p.Ser793=) c.1982C>T c.1561C>T c.698C>T (p.Ala233Val) c.2076C>T (p.Ser692=) | |
X | g.53985086G>C | CA413252566 | PHF8 | c.1968C>G (p.Ser656Arg) c.2271C>G (p.Ser757Arg) c.*726C>G (n.*726C>G) c.*1713C>G (n.*1713C>G) n.1635C>G c.2220C>G (p.Ser740Arg) c.2379C>G (p.Ser793Arg) c.1982C>G c.1561C>G c.698C>G (p.Ala233Gly) c.2076C>G (p.Ser692Arg) | |
X | g.53985086G>T | CA413252568 | PHF8 | c.1968C>A (p.Ser656Arg) c.2271C>A (p.Ser757Arg) c.*726C>A (n.*726C>A) c.*1713C>A (n.*1713C>A) n.1635C>A c.2220C>A (p.Ser740Arg) c.2379C>A (p.Ser793Arg) c.1982C>A c.1561C>A c.698C>A (p.Ala233Asp) c.2076C>A (p.Ser692Arg) | gnomAD v4 |
X | g.53985087C>A | CA413252573 | PHF8 | c.1967G>T (p.Ser656Ile) c.2270G>T (p.Ser757Ile) c.*725G>T (n.*725G>T) c.*1712G>T (n.*1712G>T) n.1634G>T c.2219G>T (p.Ser740Ile) c.2378G>T (p.Ser793Ile) c.1981G>T c.1560G>T c.697G>T (p.Ala233Ser) c.2075G>T (p.Ser692Ile) | |
X | g.53985087C>G | CA413252576 | PHF8 | c.1967G>C (p.Ser656Thr) c.2270G>C (p.Ser757Thr) c.*725G>C (n.*725G>C) c.*1712G>C (n.*1712G>C) n.1634G>C c.2219G>C (p.Ser740Thr) c.2378G>C (p.Ser793Thr) c.1981G>C c.1560G>C c.697G>C (p.Ala233Pro) c.2075G>C (p.Ser692Thr) | |
X | g.53985087C>T | CA413252571 | PHF8 | c.1967G>A (p.Ser656Asn) c.2270G>A (p.Ser757Asn) c.*725G>A (n.*725G>A) c.*1712G>A (n.*1712G>A) n.1634G>A c.2219G>A (p.Ser740Asn) c.2378G>A (p.Ser793Asn) c.1981G>A c.1560G>A c.697G>A (p.Ala233Thr) c.2075G>A (p.Ser692Asn) | |
X | g.53985088T>A | CA413252579 | PHF8 | c.1966A>T (p.Ser656Cys) c.2269A>T (p.Ser757Cys) c.*724A>T (n.*724A>T) c.*1711A>T (n.*1711A>T) n.1633A>T c.2218A>T (p.Ser740Cys) c.2377A>T (p.Ser793Cys) c.1980A>T c.1559A>T c.696A>T (p.Gly232=) c.2074A>T (p.Ser692Cys) | |
X | g.53985088T>C | CA413252581 | PHF8 | c.1966A>G (p.Ser656Gly) c.2269A>G (p.Ser757Gly) c.*724A>G (n.*724A>G) c.*1711A>G (n.*1711A>G) n.1633A>G c.2218A>G (p.Ser740Gly) c.2377A>G (p.Ser793Gly) c.1980A>G c.1559A>G c.696A>G (p.Gly232=) c.2074A>G (p.Ser692Gly) | |
X | g.53985088T>G | CA413252583 | PHF8 | c.1966A>C (p.Ser656Arg) c.2269A>C (p.Ser757Arg) c.*724A>C (n.*724A>C) c.*1711A>C (n.*1711A>C) n.1633A>C c.2218A>C (p.Ser740Arg) c.2377A>C (p.Ser793Arg) c.1980A>C c.1559A>C c.696A>C (p.Gly232=) c.2074A>C (p.Ser692Arg) | |
X | g.53985089C>A | CA413252586 | PHF8 | c.1965G>T (p.Gly655=) c.2268G>T (p.Gly756=) c.*723G>T (n.*723G>T) c.*1710G>T (n.*1710G>T) n.1632G>T c.2217G>T (p.Gly739=) c.2376G>T (p.Gly792=) c.1979G>T c.1558G>T c.695G>T (p.Gly232Val) c.2073G>T (p.Gly691=) | |
X | g.53985089C>G | CA413252588 | PHF8 | c.1965G>C (p.Gly655=) c.2268G>C (p.Gly756=) c.*723G>C (n.*723G>C) c.*1710G>C (n.*1710G>C) n.1632G>C c.2217G>C (p.Gly739=) c.2376G>C (p.Gly792=) c.1979G>C c.1558G>C c.695G>C (p.Gly232Ala) c.2073G>C (p.Gly691=) | |
X | g.53985089C>T | CA413252590 | PHF8 | c.1965G>A (p.Gly655=) c.2268G>A (p.Gly756=) c.*723G>A (n.*723G>A) c.*1710G>A (n.*1710G>A) n.1632G>A c.2217G>A (p.Gly739=) c.2376G>A (p.Gly792=) c.1979G>A c.1558G>A c.695G>A (p.Gly232Glu) c.2073G>A (p.Gly691=) | |
X | g.53985090C>A | CA413252597 | PHF8 | c.1964G>T (p.Gly655Val) c.2267G>T (p.Gly756Val) c.*722G>T (n.*722G>T) c.*1709G>T (n.*1709G>T) n.1631G>T c.2216G>T (p.Gly739Val) c.2375G>T (p.Gly792Val) c.1978G>T c.1557G>T c.694G>T (p.Gly232Ter) c.2072G>T (p.Gly691Val) | |
X | g.53985090C>G | CA413252595 | PHF8 | c.1964G>C (p.Gly655Ala) c.2267G>C (p.Gly756Ala) c.*722G>C (n.*722G>C) c.*1709G>C (n.*1709G>C) n.1631G>C c.2216G>C (p.Gly739Ala) c.2375G>C (p.Gly792Ala) c.1978G>C c.1557G>C c.694G>C (p.Gly232Arg) c.2072G>C (p.Gly691Ala) | |
X | g.53985090C>T | CA413252594 | PHF8 | c.1964G>A (p.Gly655Glu) c.2267G>A (p.Gly756Glu) c.*722G>A (n.*722G>A) c.*1709G>A (n.*1709G>A) n.1631G>A c.2216G>A (p.Gly739Glu) c.2375G>A (p.Gly792Glu) c.1978G>A c.1557G>A c.694G>A (p.Gly232Arg) c.2072G>A (p.Gly691Glu) | |
X | g.53985091C>A | CA413252600 | PHF8 | c.1963G>T (p.Gly655Trp) c.2266G>T (p.Gly756Trp) c.*721G>T (n.*721G>T) c.*1708G>T (n.*1708G>T) n.1630G>T c.2215G>T (p.Gly739Trp) c.2374G>T (p.Gly792Trp) c.1977G>T c.1556G>T c.693G>T (p.Val231=) c.2071G>T (p.Gly691Trp) | |
X | g.53985091C>G | CA413252602 | PHF8 | c.1963G>C (p.Gly655Arg) c.2266G>C (p.Gly756Arg) c.*721G>C (n.*721G>C) c.*1708G>C (n.*1708G>C) n.1630G>C c.2215G>C (p.Gly739Arg) c.2374G>C (p.Gly792Arg) c.1977G>C c.1556G>C c.693G>C (p.Val231=) c.2071G>C (p.Gly691Arg) | |
X | g.53985091C>T | CA413252604 | PHF8 | c.1963G>A (p.Gly655Arg) c.2266G>A (p.Gly756Arg) c.*721G>A (n.*721G>A) c.*1708G>A (n.*1708G>A) n.1630G>A c.2215G>A (p.Gly739Arg) c.2374G>A (p.Gly792Arg) c.1977G>A c.1556G>A c.693G>A (p.Val231=) c.2071G>A (p.Gly691Arg) | |
X | g.53985092A>C | CA413252607 | PHF8 | c.1962T>G (p.Ser654Arg) c.2265T>G (p.Ser755Arg) c.*720T>G (n.*720T>G) c.*1707T>G (n.*1707T>G) n.1629T>G c.2214T>G (p.Ser738Arg) c.2373T>G (p.Ser791Arg) c.1976T>G c.1555T>G c.692T>G (p.Val231Gly) c.2070T>G (p.Ser690Arg) | |
X | g.53985092A>G | CA413252609 | PHF8 | c.1962T>C (p.Ser654=) c.2265T>C (p.Ser755=) c.*720T>C (n.*720T>C) c.*1707T>C (n.*1707T>C) n.1629T>C c.2214T>C (p.Ser738=) c.2373T>C (p.Ser791=) c.1976T>C c.1555T>C c.692T>C (p.Val231Ala) c.2070T>C (p.Ser690=) | |
X | g.53985092A>T | CA413252611 | PHF8 | c.1962T>A (p.Ser654Arg) c.2265T>A (p.Ser755Arg) c.*720T>A (n.*720T>A) c.*1707T>A (n.*1707T>A) n.1629T>A c.2214T>A (p.Ser738Arg) c.2373T>A (p.Ser791Arg) c.1976T>A c.1555T>A c.692T>A (p.Val231Glu) c.2070T>A (p.Ser690Arg) | |
X | g.53985093C>A | CA413252614 | PHF8 | c.1961G>T (p.Ser654Ile) c.2264G>T (p.Ser755Ile) c.*719G>T (n.*719G>T) c.*1706G>T (n.*1706G>T) n.1628G>T c.2213G>T (p.Ser738Ile) c.2372G>T (p.Ser791Ile) c.1975G>T c.1554G>T c.691G>T (p.Val231Leu) c.2069G>T (p.Ser690Ile) | |
X | g.53985093C>G | CA413252619 | PHF8 | c.1961G>C (p.Ser654Thr) c.2264G>C (p.Ser755Thr) c.*719G>C (n.*719G>C) c.*1706G>C (n.*1706G>C) n.1628G>C c.2213G>C (p.Ser738Thr) c.2372G>C (p.Ser791Thr) c.1975G>C c.1554G>C c.691G>C (p.Val231Leu) c.2069G>C (p.Ser690Thr) | |
X | g.53985093C>T | CA413252616 | PHF8 | c.1961G>A (p.Ser654Asn) c.2264G>A (p.Ser755Asn) c.*719G>A (n.*719G>A) c.*1706G>A (n.*1706G>A) n.1628G>A c.2213G>A (p.Ser738Asn) c.2372G>A (p.Ser791Asn) c.1975G>A c.1554G>A c.691G>A (p.Val231Met) c.2069G>A (p.Ser690Asn) | |
X | g.53985094T>A | CA413252622 | PHF8 | c.1960A>T (p.Ser654Cys) c.2263A>T (p.Ser755Cys) c.*718A>T (n.*718A>T) c.*1705A>T (n.*1705A>T) n.1627A>T c.2212A>T (p.Ser738Cys) c.2371A>T (p.Ser791Cys) c.1974A>T c.1553A>T c.690A>T (p.Ala230=) c.2068A>T (p.Ser690Cys) | |
X | g.53985094T>C | CA413252624 | PHF8 | c.1960A>G (p.Ser654Gly) c.2263A>G (p.Ser755Gly) c.*718A>G (n.*718A>G) c.*1705A>G (n.*1705A>G) n.1627A>G c.2212A>G (p.Ser738Gly) c.2371A>G (p.Ser791Gly) c.1974A>G c.1553A>G c.690A>G (p.Ala230=) c.2068A>G (p.Ser690Gly) | gnomAD v4 |
X | g.53985094T>G | CA413252626 | PHF8 | c.1960A>C (p.Ser654Arg) c.2263A>C (p.Ser755Arg) c.*718A>C (n.*718A>C) c.*1705A>C (n.*1705A>C) n.1627A>C c.2212A>C (p.Ser738Arg) c.2371A>C (p.Ser791Arg) c.1974A>C c.1553A>C c.690A>C (p.Ala230=) c.2068A>C (p.Ser690Arg) | |
X | g.53985095G>A | CA413252629 | PHF8 | c.1959C>T (p.Ser653=) c.2262C>T (p.Ser754=) c.*717C>T (n.*717C>T) c.*1704C>T (n.*1704C>T) n.1626C>T c.2211C>T (p.Ser737=) c.2370C>T (p.Ser790=) c.1973C>T c.1552C>T c.689C>T (p.Ala230Val) c.2067C>T (p.Ser689=) | |
X | g.53985095G>C | CA413252632 | PHF8 | c.1959C>G (p.Ser653Arg) c.2262C>G (p.Ser754Arg) c.*717C>G (n.*717C>G) c.*1704C>G (n.*1704C>G) n.1626C>G c.2211C>G (p.Ser737Arg) c.2370C>G (p.Ser790Arg) c.1973C>G c.1552C>G c.689C>G (p.Ala230Gly) c.2067C>G (p.Ser689Arg) | |
X | g.53985095G>T | CA413252634 | PHF8 | c.1959C>A (p.Ser653Arg) c.2262C>A (p.Ser754Arg) c.*717C>A (n.*717C>A) c.*1704C>A (n.*1704C>A) n.1626C>A c.2211C>A (p.Ser737Arg) c.2370C>A (p.Ser790Arg) c.1973C>A c.1552C>A c.689C>A (p.Ala230Glu) c.2067C>A (p.Ser689Arg) |