Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.53985126T>A | CA413252840 | PHF8 | c.1928A>T (p.Gln643Leu) c.2231A>T (p.Gln744Leu) c.*686A>T (n.*686A>T) c.*1673A>T (n.*1673A>T) n.1595A>T c.2180A>T (p.Gln727Leu) c.2339A>T (p.Gln780Leu) c.1942A>T c.1521A>T c.658A>T (p.Arg220Trp) c.2036A>T (p.Gln679Leu) | |
X | g.53985126T>C | CA413252842 | PHF8 | c.1928A>G (p.Gln643Arg) c.2231A>G (p.Gln744Arg) c.*686A>G (n.*686A>G) c.*1673A>G (n.*1673A>G) n.1595A>G c.2180A>G (p.Gln727Arg) c.2339A>G (p.Gln780Arg) c.1942A>G c.1521A>G c.658A>G (p.Arg220Gly) c.2036A>G (p.Gln679Arg) | |
X | g.53985126T>G | CA413252843 | PHF8 | c.1928A>C (p.Gln643Pro) c.2231A>C (p.Gln744Pro) c.*686A>C (n.*686A>C) c.*1673A>C (n.*1673A>C) n.1595A>C c.2180A>C (p.Gln727Pro) c.2339A>C (p.Gln780Pro) c.1942A>C c.1521A>C c.658A>C (p.Arg220=) c.2036A>C (p.Gln679Pro) | |
X | g.53985127G>A | CA413252845 | PHF8 | c.1927C>T (p.Gln643Ter) c.2230C>T (p.Gln744Ter) c.*685C>T (n.*685C>T) c.*1672C>T (n.*1672C>T) n.1594C>T c.2179C>T (p.Gln727Ter) c.2338C>T (p.Gln780Ter) c.1941C>T c.1520C>T c.657C>T (p.Cys219=) c.2035C>T (p.Gln679Ter) | |
X | g.53985127G>C | CA413252846 | PHF8 | c.1927C>G (p.Gln643Glu) c.2230C>G (p.Gln744Glu) c.*685C>G (n.*685C>G) c.*1672C>G (n.*1672C>G) n.1594C>G c.2179C>G (p.Gln727Glu) c.2338C>G (p.Gln780Glu) c.1941C>G c.1520C>G c.657C>G (p.Cys219Trp) c.2035C>G (p.Gln679Glu) | |
X | g.53985127G>T | CA413252847 | PHF8 | c.1927C>A (p.Gln643Lys) c.2230C>A (p.Gln744Lys) c.*685C>A (n.*685C>A) c.*1672C>A (n.*1672C>A) n.1594C>A c.2179C>A (p.Gln727Lys) c.2338C>A (p.Gln780Lys) c.1941C>A c.1520C>A c.657C>A (p.Cys219Ter) c.2035C>A (p.Gln679Lys) | |
X | g.53985128C>A | CA413252850 | PHF8 | c.1926G>T (p.Leu642=) c.2229G>T (p.Leu743=) c.*684G>T (n.*684G>T) c.*1671G>T (n.*1671G>T) n.1593G>T c.2178G>T (p.Leu726=) c.2337G>T (p.Leu779=) c.1940G>T c.1519G>T c.656G>T (p.Cys219Phe) c.2034G>T (p.Leu678=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53985128C= | CA2430030698 | PHF8 | c.1926G= (p.Leu642=) c.2229G= (p.Leu743=) c.*684G= (n.*684G=) c.*1671G= (n.*1671G=) n.1593G= c.2178G= (p.Leu726=) c.2337G= (p.Leu779=) c.1940G= c.1519G= c.656G= (p.Cys219=) c.2034G= (p.Leu678=) | |
X | g.53985128C>G | CA413252853 | PHF8 | c.1926G>C (p.Leu642=) c.2229G>C (p.Leu743=) c.*684G>C (n.*684G>C) c.*1671G>C (n.*1671G>C) n.1593G>C c.2178G>C (p.Leu726=) c.2337G>C (p.Leu779=) c.1940G>C c.1519G>C c.656G>C (p.Cys219Ser) c.2034G>C (p.Leu678=) | |
X | g.53985128C>T | CA413252855 | PHF8 | c.1926G>A (p.Leu642=) c.2229G>A (p.Leu743=) c.*684G>A (n.*684G>A) c.*1671G>A (n.*1671G>A) n.1593G>A c.2178G>A (p.Leu726=) c.2337G>A (p.Leu779=) c.1940G>A c.1519G>A c.656G>A (p.Cys219Tyr) c.2034G>A (p.Leu678=) | gnomAD v4 |
X | g.53985129A>C | CA413252858 | PHF8 | c.1925T>G (p.Leu642Arg) c.2228T>G (p.Leu743Arg) c.*683T>G (n.*683T>G) c.*1670T>G (n.*1670T>G) n.1592T>G c.2177T>G (p.Leu726Arg) c.2336T>G (p.Leu779Arg) c.1939T>G c.1518T>G c.655T>G (p.Cys219Gly) c.2033T>G (p.Leu678Arg) | |
X | g.53985129A>G | CA413252860 | PHF8 | c.1925T>C (p.Leu642Pro) c.2228T>C (p.Leu743Pro) c.*683T>C (n.*683T>C) c.*1670T>C (n.*1670T>C) n.1592T>C c.2177T>C (p.Leu726Pro) c.2336T>C (p.Leu779Pro) c.1939T>C c.1518T>C c.655T>C (p.Cys219Arg) c.2033T>C (p.Leu678Pro) | |
X | g.53985129A>T | CA413252862 | PHF8 | c.1925T>A (p.Leu642Gln) c.2228T>A (p.Leu743Gln) c.*683T>A (n.*683T>A) c.*1670T>A (n.*1670T>A) n.1592T>A c.2177T>A (p.Leu726Gln) c.2336T>A (p.Leu779Gln) c.1939T>A c.1518T>A c.655T>A (p.Cys219Ser) c.2033T>A (p.Leu678Gln) | |
X | g.53985130G>A | CA329924352 | PHF8 | c.1924C>T (p.Leu642=) c.2227C>T (p.Leu743=) c.*682C>T (n.*682C>T) c.*1669C>T (n.*1669C>T) n.1591C>T c.2176C>T (p.Leu726=) c.2335C>T (p.Leu779=) c.1938C>T c.1517C>T c.654C>T (p.Ala218=) c.2032C>T (p.Leu678=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53985130G>C | CA413252864 | PHF8 | c.1924C>G (p.Leu642Val) c.2227C>G (p.Leu743Val) c.*682C>G (n.*682C>G) c.*1669C>G (n.*1669C>G) n.1591C>G c.2176C>G (p.Leu726Val) c.2335C>G (p.Leu779Val) c.1938C>G c.1517C>G c.654C>G (p.Ala218=) c.2032C>G (p.Leu678Val) | |
X | g.53985130G= | CA2430030699 | PHF8 | c.1924C= (p.Leu642=) c.2227C= (p.Leu743=) c.*682C= (n.*682C=) c.*1669C= (n.*1669C=) n.1591C= c.2176C= (p.Leu726=) c.2335C= (p.Leu779=) c.1938C= c.1517C= c.654C= (p.Ala218=) c.2032C= (p.Leu678=) | |
X | g.53985130G>T | CA413252866 | PHF8 | c.1924C>A (p.Leu642Met) c.2227C>A (p.Leu743Met) c.*682C>A (n.*682C>A) c.*1669C>A (n.*1669C>A) n.1591C>A c.2176C>A (p.Leu726Met) c.2335C>A (p.Leu779Met) c.1938C>A c.1517C>A c.654C>A (p.Ala218=) c.2032C>A (p.Leu678Met) | gnomAD v4 |
X | g.53985131G>A | CA413252869 | PHF8 | c.1923C>T (p.Ser641=) c.2226C>T (p.Ser742=) c.*681C>T (n.*681C>T) c.*1668C>T (n.*1668C>T) n.1590C>T c.2175C>T (p.Ser725=) c.2334C>T (p.Ser778=) c.1937C>T c.1516C>T c.653C>T (p.Ala218Val) c.2031C>T (p.Ser677=) | COSMIC COSMIC COSMIC COSMIC |
X | g.53985131G>C | CA413252871 | PHF8 | c.1923C>G (p.Ser641Arg) c.2226C>G (p.Ser742Arg) c.*681C>G (n.*681C>G) c.*1668C>G (n.*1668C>G) n.1590C>G c.2175C>G (p.Ser725Arg) c.2334C>G (p.Ser778Arg) c.1937C>G c.1516C>G c.653C>G (p.Ala218Gly) c.2031C>G (p.Ser677Arg) | |
X | g.53985131G= | CA2430030700 | PHF8 | c.1923C= (p.Ser641=) c.2226C= (p.Ser742=) c.*681C= (n.*681C=) c.*1668C= (n.*1668C=) n.1590C= c.2175C= (p.Ser725=) c.2334C= (p.Ser778=) c.1937C= c.1516C= c.653C= (p.Ala218=) c.2031C= (p.Ser677=) | |
X | g.53985131G>T | CA413252873 | PHF8 | c.1923C>A (p.Ser641Arg) c.2226C>A (p.Ser742Arg) c.*681C>A (n.*681C>A) c.*1668C>A (n.*1668C>A) n.1590C>A c.2175C>A (p.Ser725Arg) c.2334C>A (p.Ser778Arg) c.1937C>A c.1516C>A c.653C>A (p.Ala218Asp) c.2031C>A (p.Ser677Arg) | |
X | g.53985132C>A | CA413252877 | PHF8 | c.1922G>T (p.Ser641Ile) c.2225G>T (p.Ser742Ile) c.*680G>T (n.*680G>T) c.*1667G>T (n.*1667G>T) n.1589G>T c.2174G>T (p.Ser725Ile) c.2333G>T (p.Ser778Ile) c.1936G>T c.1515G>T c.652G>T (p.Ala218Ser) c.2030G>T (p.Ser677Ile) | |
X | g.53985132C>G | CA413252879 | PHF8 | c.1922G>C (p.Ser641Thr) c.2225G>C (p.Ser742Thr) c.*680G>C (n.*680G>C) c.*1667G>C (n.*1667G>C) n.1589G>C c.2174G>C (p.Ser725Thr) c.2333G>C (p.Ser778Thr) c.1936G>C c.1515G>C c.652G>C (p.Ala218Pro) c.2030G>C (p.Ser677Thr) | |
X | g.53985132C>T | CA413252881 | PHF8 | c.1922G>A (p.Ser641Asn) c.2225G>A (p.Ser742Asn) c.*680G>A (n.*680G>A) c.*1667G>A (n.*1667G>A) n.1589G>A c.2174G>A (p.Ser725Asn) c.2333G>A (p.Ser778Asn) c.1936G>A c.1515G>A c.652G>A (p.Ala218Thr) c.2030G>A (p.Ser677Asn) | |
X | g.53985132dup | CA658799761 | PHF8 | c.1922dup (p.Ser641ArgfsTer26) c.2225dup (p.Ser742ArgfsTer26) c.*680dup (n.*680dup) c.*1667dup (n.*1667dup) n.1589dup c.2174dup (p.Ser725ArgfsTer26) c.2333dup (p.Ser778ArgfsTer26) c.1936dup c.1515dup c.652dup (p.Ala218GlyfsTer?) c.2030dup (p.Ser677ArgfsTer26) | ClinVar dbSNP |
X | g.53985133T>A | CA413252888 | PHF8 | c.1921A>T (p.Ser641Cys) c.2224A>T (p.Ser742Cys) c.*679A>T (n.*679A>T) c.*1666A>T (n.*1666A>T) n.1588A>T c.2173A>T (p.Ser725Cys) c.2332A>T (p.Ser778Cys) c.1935A>T c.1514A>T c.651A>T (p.Leu217=) c.2029A>T (p.Ser677Cys) | |
X | g.53985133T>C | CA413252886 | PHF8 | c.1921A>G (p.Ser641Gly) c.2224A>G (p.Ser742Gly) c.*679A>G (n.*679A>G) c.*1666A>G (n.*1666A>G) n.1588A>G c.2173A>G (p.Ser725Gly) c.2332A>G (p.Ser778Gly) c.1935A>G c.1514A>G c.651A>G (p.Leu217=) c.2029A>G (p.Ser677Gly) | |
X | g.53985133T>G | CA413252884 | PHF8 | c.1921A>C (p.Ser641Arg) c.2224A>C (p.Ser742Arg) c.*679A>C (n.*679A>C) c.*1666A>C (n.*1666A>C) n.1588A>C c.2173A>C (p.Ser725Arg) c.2332A>C (p.Ser778Arg) c.1935A>C c.1514A>C c.651A>C (p.Leu217=) c.2029A>C (p.Ser677Arg) | |
X | g.53985134A>C | CA413252890 | PHF8 | c.1920T>G (p.Ser640=) c.2223T>G (p.Ser741=) c.*678T>G (n.*678T>G) c.*1665T>G (n.*1665T>G) n.1587T>G c.2172T>G (p.Ser724=) c.2331T>G (p.Ser777=) c.1934T>G c.1513T>G c.650T>G (p.Leu217Arg) c.2028T>G (p.Ser676=) | gnomAD v4 |
X | g.53985134A>G | CA413252892 | PHF8 | c.1920T>C (p.Ser640=) c.2223T>C (p.Ser741=) c.*678T>C (n.*678T>C) c.*1665T>C (n.*1665T>C) n.1587T>C c.2172T>C (p.Ser724=) c.2331T>C (p.Ser777=) c.1934T>C c.1513T>C c.650T>C (p.Leu217Pro) c.2028T>C (p.Ser676=) | |
X | g.53985134A>T | CA413252895 | PHF8 | c.1920T>A (p.Ser640=) c.2223T>A (p.Ser741=) c.*678T>A (n.*678T>A) c.*1665T>A (n.*1665T>A) n.1587T>A c.2172T>A (p.Ser724=) c.2331T>A (p.Ser777=) c.1934T>A c.1513T>A c.650T>A (p.Leu217Gln) c.2028T>A (p.Ser676=) | |
X | g.53985135G>A | CA413252899 | PHF8 | c.1919C>T (p.Ser640Phe) c.2222C>T (p.Ser741Phe) c.*677C>T (n.*677C>T) c.*1664C>T (n.*1664C>T) n.1586C>T c.2171C>T (p.Ser724Phe) c.2330C>T (p.Ser777Phe) c.1933C>T c.1512C>T c.649C>T (p.Leu217=) c.2027C>T (p.Ser676Phe) | |
X | g.53985135G>C | CA413252901 | PHF8 | c.1919C>G (p.Ser640Cys) c.2222C>G (p.Ser741Cys) c.*677C>G (n.*677C>G) c.*1664C>G (n.*1664C>G) n.1586C>G c.2171C>G (p.Ser724Cys) c.2330C>G (p.Ser777Cys) c.1933C>G c.1512C>G c.649C>G (p.Leu217Val) c.2027C>G (p.Ser676Cys) | COSMIC COSMIC COSMIC COSMIC |
X | g.53985135G>T | CA413252903 | PHF8 | c.1919C>A (p.Ser640Tyr) c.2222C>A (p.Ser741Tyr) c.*677C>A (n.*677C>A) c.*1664C>A (n.*1664C>A) n.1586C>A c.2171C>A (p.Ser724Tyr) c.2330C>A (p.Ser777Tyr) c.1933C>A c.1512C>A c.649C>A (p.Leu217Ile) c.2027C>A (p.Ser676Tyr) | |
X | g.53985139_53985150del | CA2693828192 | PHF8 | c.1908_1919del (p.Pro637_Ser640del) c.2211_2222del (p.Pro738_Ser741del) c.*666_*677del (n.*666_*677del) c.*1653_*1664del (n.*1653_*1664del) n.1575_1586del c.2160_2171del (p.Pro721_Ser724del) c.2319_2330del (p.Pro774_Ser777del) c.1922_1933del c.1501_1512del c.638_649del (p.His213_Pro216del) c.2016_2027del (p.Pro673_Ser676del) | gnomAD v4 |
X | g.53985136A>C | CA413252906 | PHF8 | c.1918T>G (p.Ser640Ala) c.2221T>G (p.Ser741Ala) c.*676T>G (n.*676T>G) c.*1663T>G (n.*1663T>G) n.1585T>G c.2170T>G (p.Ser724Ala) c.2329T>G (p.Ser777Ala) c.1932T>G c.1511T>G c.648T>G (p.Pro216=) c.2026T>G (p.Ser676Ala) | |
X | g.53985136A>G | CA413252911 | PHF8 | c.1918T>C (p.Ser640Pro) c.2221T>C (p.Ser741Pro) c.*676T>C (n.*676T>C) c.*1663T>C (n.*1663T>C) n.1585T>C c.2170T>C (p.Ser724Pro) c.2329T>C (p.Ser777Pro) c.1932T>C c.1511T>C c.648T>C (p.Pro216=) c.2026T>C (p.Ser676Pro) | |
X | g.53985136A>T | CA413252908 | PHF8 | c.1918T>A (p.Ser640Thr) c.2221T>A (p.Ser741Thr) c.*676T>A (n.*676T>A) c.*1663T>A (n.*1663T>A) n.1585T>A c.2170T>A (p.Ser724Thr) c.2329T>A (p.Ser777Thr) c.1932T>A c.1511T>A c.648T>A (p.Pro216=) c.2026T>A (p.Ser676Thr) | |
X | g.53985137G>A | CA10423319 | PHF8 | c.1917C>T (p.Thr639=) c.2220C>T (p.Thr740=) c.*675C>T (n.*675C>T) c.*1662C>T (n.*1662C>T) n.1584C>T c.2169C>T (p.Thr723=) c.2328C>T (p.Thr776=) c.1931C>T c.1510C>T c.647C>T (p.Pro216Leu) c.2025C>T (p.Thr675=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53985137G>C | CA413252915 | PHF8 | c.1917C>G (p.Thr639=) c.2220C>G (p.Thr740=) c.*675C>G (n.*675C>G) c.*1662C>G (n.*1662C>G) n.1584C>G c.2169C>G (p.Thr723=) c.2328C>G (p.Thr776=) c.1931C>G c.1510C>G c.647C>G (p.Pro216Arg) c.2025C>G (p.Thr675=) | dbSNP |
X | g.53985137G= | CA2430030701 | PHF8 | c.1917C= (p.Thr639=) c.2220C= (p.Thr740=) c.*675C= (n.*675C=) c.*1662C= (n.*1662C=) n.1584C= c.2169C= (p.Thr723=) c.2328C= (p.Thr776=) c.1931C= c.1510C= c.647C= (p.Pro216=) c.2025C= (p.Thr675=) | |
X | g.53985137G>T | CA413252917 | PHF8 | c.1917C>A (p.Thr639=) c.2220C>A (p.Thr740=) c.*675C>A (n.*675C>A) c.*1662C>A (n.*1662C>A) n.1584C>A c.2169C>A (p.Thr723=) c.2328C>A (p.Thr776=) c.1931C>A c.1510C>A c.647C>A (p.Pro216His) c.2025C>A (p.Thr675=) | |
X | g.53985138G>A | CA413252919 | PHF8 | c.1916C>T (p.Thr639Ile) c.2219C>T (p.Thr740Ile) c.*674C>T (n.*674C>T) c.*1661C>T (n.*1661C>T) n.1583C>T c.2168C>T (p.Thr723Ile) c.2327C>T (p.Thr776Ile) c.1930C>T c.1509C>T c.646C>T (p.Pro216Ser) c.2024C>T (p.Thr675Ile) | gnomAD v4 |
X | g.53985138G>C | CA413252921 | PHF8 | c.1916C>G (p.Thr639Ser) c.2219C>G (p.Thr740Ser) c.*674C>G (n.*674C>G) c.*1661C>G (n.*1661C>G) n.1583C>G c.2168C>G (p.Thr723Ser) c.2327C>G (p.Thr776Ser) c.1930C>G c.1509C>G c.646C>G (p.Pro216Ala) c.2024C>G (p.Thr675Ser) | |
X | g.53985138G>T | CA413252923 | PHF8 | c.1916C>A (p.Thr639Asn) c.2219C>A (p.Thr740Asn) c.*674C>A (n.*674C>A) c.*1661C>A (n.*1661C>A) n.1583C>A c.2168C>A (p.Thr723Asn) c.2327C>A (p.Thr776Asn) c.1930C>A c.1509C>A c.646C>A (p.Pro216Thr) c.2024C>A (p.Thr675Asn) | |
X | g.53985139T>A | CA413252926 | PHF8 | c.1915A>T (p.Thr639Ser) c.2218A>T (p.Thr740Ser) c.*673A>T (n.*673A>T) c.*1660A>T (n.*1660A>T) n.1582A>T c.2167A>T (p.Thr723Ser) c.2326A>T (p.Thr776Ser) c.1929A>T c.1508A>T c.645A>T (p.Leu215=) c.2023A>T (p.Thr675Ser) | |
X | g.53985139T>C | CA10423320 | PHF8 | c.1915A>G (p.Thr639Ala) c.2218A>G (p.Thr740Ala) c.*673A>G (n.*673A>G) c.*1660A>G (n.*1660A>G) n.1582A>G c.2167A>G (p.Thr723Ala) c.2326A>G (p.Thr776Ala) c.1929A>G c.1508A>G c.645A>G (p.Leu215=) c.2023A>G (p.Thr675Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53985139T>G | CA413252930 | PHF8 | c.1915A>C (p.Thr639Pro) c.2218A>C (p.Thr740Pro) c.*673A>C (n.*673A>C) c.*1660A>C (n.*1660A>C) n.1582A>C c.2167A>C (p.Thr723Pro) c.2326A>C (p.Thr776Pro) c.1929A>C c.1508A>C c.645A>C (p.Leu215=) c.2023A>C (p.Thr675Pro) | |
X | g.53985139T= | CA2430030702 | PHF8 | c.1915A= (p.Thr639=) c.2218A= (p.Thr740=) c.*673A= (n.*673A=) c.*1660A= (n.*1660A=) n.1582A= c.2167A= (p.Thr723=) c.2326A= (p.Thr776=) c.1929A= c.1508A= c.645A= (p.Leu215=) c.2023A= (p.Thr675=) | |
X | g.53985140A= | CA2430030703 | PHF8 | c.1914T= (p.Ala638=) c.2217T= (p.Ala739=) c.*672T= (n.*672T=) c.*1659T= (n.*1659T=) n.1581T= c.2166T= (p.Ala722=) c.2325T= (p.Ala775=) c.1928T= c.1507T= c.644T= (p.Leu215=) c.2022T= (p.Ala674=) | |
X | g.53985140A>C | CA413252934 | PHF8 | c.1914T>G (p.Ala638=) c.2217T>G (p.Ala739=) c.*672T>G (n.*672T>G) c.*1659T>G (n.*1659T>G) n.1581T>G c.2166T>G (p.Ala722=) c.2325T>G (p.Ala775=) c.1928T>G c.1507T>G c.644T>G (p.Leu215Arg) c.2022T>G (p.Ala674=) | |
X | g.53985140A>G | CA413252935 | PHF8 | c.1914T>C (p.Ala638=) c.2217T>C (p.Ala739=) c.*672T>C (n.*672T>C) c.*1659T>C (n.*1659T>C) n.1581T>C c.2166T>C (p.Ala722=) c.2325T>C (p.Ala775=) c.1928T>C c.1507T>C c.644T>C (p.Leu215Pro) c.2022T>C (p.Ala674=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.53985140A>T | CA413252937 | PHF8 | c.1914T>A (p.Ala638=) c.2217T>A (p.Ala739=) c.*672T>A (n.*672T>A) c.*1659T>A (n.*1659T>A) n.1581T>A c.2166T>A (p.Ala722=) c.2325T>A (p.Ala775=) c.1928T>A c.1507T>A c.644T>A (p.Leu215Gln) c.2022T>A (p.Ala674=) | |
X | g.53985141G>A | CA413252940 | PHF8 | c.1913C>T (p.Ala638Val) c.2216C>T (p.Ala739Val) c.*671C>T (n.*671C>T) c.*1658C>T (n.*1658C>T) n.1580C>T c.2165C>T (p.Ala722Val) c.2324C>T (p.Ala775Val) c.1927C>T c.1506C>T c.643C>T (p.Leu215=) c.2021C>T (p.Ala674Val) | |
X | g.53985141G>C | CA413252944 | PHF8 | c.1913C>G (p.Ala638Gly) c.2216C>G (p.Ala739Gly) c.*671C>G (n.*671C>G) c.*1658C>G (n.*1658C>G) n.1580C>G c.2165C>G (p.Ala722Gly) c.2324C>G (p.Ala775Gly) c.1927C>G c.1506C>G c.643C>G (p.Leu215Val) c.2021C>G (p.Ala674Gly) | |
X | g.53985141G>T | CA413252942 | PHF8 | c.1913C>A (p.Ala638Asp) c.2216C>A (p.Ala739Asp) c.*671C>A (n.*671C>A) c.*1658C>A (n.*1658C>A) n.1580C>A c.2165C>A (p.Ala722Asp) c.2324C>A (p.Ala775Asp) c.1927C>A c.1506C>A c.643C>A (p.Leu215Ile) c.2021C>A (p.Ala674Asp) | gnomAD v4 |
X | g.53985142C>A | CA413252946 | PHF8 | c.1912G>T (p.Ala638Ser) c.2215G>T (p.Ala739Ser) c.*670G>T (n.*670G>T) c.*1657G>T (n.*1657G>T) n.1579G>T c.2164G>T (p.Ala722Ser) c.2323G>T (p.Ala775Ser) c.1926G>T c.1505G>T c.642G>T (p.Arg214=) c.2020G>T (p.Ala674Ser) | |
X | g.53985142C>G | CA413252948 | PHF8 | c.1912G>C (p.Ala638Pro) c.2215G>C (p.Ala739Pro) c.*670G>C (n.*670G>C) c.*1657G>C (n.*1657G>C) n.1579G>C c.2164G>C (p.Ala722Pro) c.2323G>C (p.Ala775Pro) c.1926G>C c.1505G>C c.642G>C (p.Arg214=) c.2020G>C (p.Ala674Pro) | |
X | g.53985142C>T | CA413252950 | PHF8 | c.1912G>A (p.Ala638Thr) c.2215G>A (p.Ala739Thr) c.*670G>A (n.*670G>A) c.*1657G>A (n.*1657G>A) n.1579G>A c.2164G>A (p.Ala722Thr) c.2323G>A (p.Ala775Thr) c.1926G>A c.1505G>A c.642G>A (p.Arg214=) c.2020G>A (p.Ala674Thr) | |
X | g.53985143C>A | CA413252952 | PHF8 | c.1911G>T (p.Pro637=) c.2214G>T (p.Pro738=) c.*669G>T (n.*669G>T) c.*1656G>T (n.*1656G>T) n.1578G>T c.2163G>T (p.Pro721=) c.2322G>T (p.Pro774=) c.1925G>T c.1504G>T c.641G>T (p.Arg214Leu) c.2019G>T (p.Pro673=) | |
X | g.53985143C= | CA2430030704 | PHF8 | c.1911G= (p.Pro637=) c.2214G= (p.Pro738=) c.*669G= (n.*669G=) c.*1656G= (n.*1656G=) n.1578G= c.2163G= (p.Pro721=) c.2322G= (p.Pro774=) c.1925G= c.1504G= c.641G= (p.Arg214=) c.2019G= (p.Pro673=) | |
X | g.53985143C>G | CA413252955 | PHF8 | c.1911G>C (p.Pro637=) c.2214G>C (p.Pro738=) c.*669G>C (n.*669G>C) c.*1656G>C (n.*1656G>C) n.1578G>C c.2163G>C (p.Pro721=) c.2322G>C (p.Pro774=) c.1925G>C c.1504G>C c.641G>C (p.Arg214Pro) c.2019G>C (p.Pro673=) | |
X | g.53985143C>T | CA10423321 | PHF8 | c.1911G>A (p.Pro637=) c.2214G>A (p.Pro738=) c.*669G>A (n.*669G>A) c.*1656G>A (n.*1656G>A) n.1578G>A c.2163G>A (p.Pro721=) c.2322G>A (p.Pro774=) c.1925G>A c.1504G>A c.641G>A (p.Arg214Gln) c.2019G>A (p.Pro673=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53985144G>A | CA10423322 | PHF8 | c.1910C>T (p.Pro637Leu) c.2213C>T (p.Pro738Leu) c.*668C>T (n.*668C>T) c.*1655C>T (n.*1655C>T) n.1577C>T c.2162C>T (p.Pro721Leu) c.2321C>T (p.Pro774Leu) c.1924C>T c.1503C>T c.640C>T (p.Arg214Trp) c.2018C>T (p.Pro673Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53985144G>C | CA413252957 | PHF8 | c.1910C>G (p.Pro637Arg) c.2213C>G (p.Pro738Arg) c.*668C>G (n.*668C>G) c.*1655C>G (n.*1655C>G) n.1577C>G c.2162C>G (p.Pro721Arg) c.2321C>G (p.Pro774Arg) c.1924C>G c.1503C>G c.640C>G (p.Arg214Gly) c.2018C>G (p.Pro673Arg) | |
X | g.53985144G= | CA2430030705 | PHF8 | c.1910C= (p.Pro637=) c.2213C= (p.Pro738=) c.*668C= (n.*668C=) c.*1655C= (n.*1655C=) n.1577C= c.2162C= (p.Pro721=) c.2321C= (p.Pro774=) c.1924C= c.1503C= c.640C= (p.Arg214=) c.2018C= (p.Pro673=) | |
X | g.53985144G>T | CA413252959 | PHF8 | c.1910C>A (p.Pro637Gln) c.2213C>A (p.Pro738Gln) c.*668C>A (n.*668C>A) c.*1655C>A (n.*1655C>A) n.1577C>A c.2162C>A (p.Pro721Gln) c.2321C>A (p.Pro774Gln) c.1924C>A c.1503C>A c.640C>A (p.Arg214=) c.2018C>A (p.Pro673Gln) | gnomAD v4 |
X | g.53985145G>A | CA413252962 | PHF8 | c.1909C>T (p.Pro637Ser) c.2212C>T (p.Pro738Ser) c.*667C>T (n.*667C>T) c.*1654C>T (n.*1654C>T) n.1576C>T c.2161C>T (p.Pro721Ser) c.2320C>T (p.Pro774Ser) c.1923C>T c.1502C>T c.639C>T (p.His213=) c.2017C>T (p.Pro673Ser) | |
X | g.53985145G>C | CA413252964 | PHF8 | c.1909C>G (p.Pro637Ala) c.2212C>G (p.Pro738Ala) c.*667C>G (n.*667C>G) c.*1654C>G (n.*1654C>G) n.1576C>G c.2161C>G (p.Pro721Ala) c.2320C>G (p.Pro774Ala) c.1923C>G c.1502C>G c.639C>G (p.His213Gln) c.2017C>G (p.Pro673Ala) | |
X | g.53985145G>T | CA413252965 | PHF8 | c.1909C>A (p.Pro637Thr) c.2212C>A (p.Pro738Thr) c.*667C>A (n.*667C>A) c.*1654C>A (n.*1654C>A) n.1576C>A c.2161C>A (p.Pro721Thr) c.2320C>A (p.Pro774Thr) c.1923C>A c.1502C>A c.639C>A (p.His213Gln) c.2017C>A (p.Pro673Thr) | |
X | g.53985146T>A | CA413252972 | PHF8 | c.1908A>T (p.Ser636=) c.2211A>T (p.Ser737=) c.*666A>T (n.*666A>T) c.*1653A>T (n.*1653A>T) n.1575A>T c.2160A>T (p.Ser720=) c.2319A>T (p.Ser773=) c.1922A>T c.1501A>T c.638A>T (p.His213Leu) c.2016A>T (p.Ser672=) | |
X | g.53985146T>C | CA10423323 | PHF8 | c.1908A>G (p.Ser636=) c.2211A>G (p.Ser737=) c.*666A>G (n.*666A>G) c.*1653A>G (n.*1653A>G) n.1575A>G c.2160A>G (p.Ser720=) c.2319A>G (p.Ser773=) c.1922A>G c.1501A>G c.638A>G (p.His213Arg) c.2016A>G (p.Ser672=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53985146T>G | CA413252968 | PHF8 | c.1908A>C (p.Ser636=) c.2211A>C (p.Ser737=) c.*666A>C (n.*666A>C) c.*1653A>C (n.*1653A>C) n.1575A>C c.2160A>C (p.Ser720=) c.2319A>C (p.Ser773=) c.1922A>C c.1501A>C c.638A>C (p.His213Pro) c.2016A>C (p.Ser672=) | |
X | g.53985146T= | CA2430030706 | PHF8 | c.1908A= (p.Ser636=) c.2211A= (p.Ser737=) c.*666A= (n.*666A=) c.*1653A= (n.*1653A=) n.1575A= c.2160A= (p.Ser720=) c.2319A= (p.Ser773=) c.1922A= c.1501A= c.638A= (p.His213=) c.2016A= (p.Ser672=) | |
X | g.53985147G>A | CA413252974 | PHF8 | c.1907C>T (p.Ser636Leu) c.2210C>T (p.Ser737Leu) c.*665C>T (n.*665C>T) c.*1652C>T (n.*1652C>T) n.1574C>T c.2159C>T (p.Ser720Leu) c.2318C>T (p.Ser773Leu) c.1921C>T c.1500C>T c.637C>T (p.His213Tyr) c.2015C>T (p.Ser672Leu) | |
X | g.53985147G>C | CA201396 | PHF8 | c.1907C>G (p.Ser636Ter) c.2210C>G (p.Ser737Ter) c.*665C>G (n.*665C>G) c.*1652C>G (n.*1652C>G) n.1574C>G c.2159C>G (p.Ser720Ter) c.2318C>G (p.Ser773Ter) c.1921C>G c.1500C>G c.637C>G (p.His213Asp) c.2015C>G (p.Ser672Ter) | ClinVar dbSNP |
X | g.53985147G= | CA2430030707 | PHF8 | c.1907C= (p.Ser636=) c.2210C= (p.Ser737=) c.*665C= (n.*665C=) c.*1652C= (n.*1652C=) n.1574C= c.2159C= (p.Ser720=) c.2318C= (p.Ser773=) c.1921C= c.1500C= c.637C= (p.His213=) c.2015C= (p.Ser672=) | |
X | g.53985147G>T | CA413252979 | PHF8 | c.1907C>A (p.Ser636Ter) c.2210C>A (p.Ser737Ter) c.*665C>A (n.*665C>A) c.*1652C>A (n.*1652C>A) n.1574C>A c.2159C>A (p.Ser720Ter) c.2318C>A (p.Ser773Ter) c.1921C>A c.1500C>A c.637C>A (p.His213Asn) c.2015C>A (p.Ser672Ter) | |
X | g.53985148A>C | CA413252982 | PHF8 | c.1906T>G (p.Ser636Ala) c.2209T>G (p.Ser737Ala) c.*664T>G (n.*664T>G) c.*1651T>G (n.*1651T>G) n.1573T>G c.2158T>G (p.Ser720Ala) c.2317T>G (p.Ser773Ala) c.1920T>G c.1499T>G c.636T>G (p.Pro212=) c.2014T>G (p.Ser672Ala) | |
X | g.53985148A>G | CA413252984 | PHF8 | c.1906T>C (p.Ser636Pro) c.2209T>C (p.Ser737Pro) c.*664T>C (n.*664T>C) c.*1651T>C (n.*1651T>C) n.1573T>C c.2158T>C (p.Ser720Pro) c.2317T>C (p.Ser773Pro) c.1920T>C c.1499T>C c.636T>C (p.Pro212=) c.2014T>C (p.Ser672Pro) | |
X | g.53985148A>T | CA413252986 | PHF8 | c.1906T>A (p.Ser636Thr) c.2209T>A (p.Ser737Thr) c.*664T>A (n.*664T>A) c.*1651T>A (n.*1651T>A) n.1573T>A c.2158T>A (p.Ser720Thr) c.2317T>A (p.Ser773Thr) c.1920T>A c.1499T>A c.636T>A (p.Pro212=) c.2014T>A (p.Ser672Thr) | |
X | g.53985149G>A | CA413252989 | PHF8 | c.1905C>T (p.Ser635=) c.2208C>T (p.Ser736=) c.*663C>T (n.*663C>T) c.*1650C>T (n.*1650C>T) n.1572C>T c.2157C>T (p.Ser719=) c.2316C>T (p.Ser772=) c.1919C>T c.1498C>T c.635C>T (p.Pro212Leu) c.2013C>T (p.Ser671=) | |
X | g.53985149G>C | CA413252990 | PHF8 | c.1905C>G (p.Ser635=) c.2208C>G (p.Ser736=) c.*663C>G (n.*663C>G) c.*1650C>G (n.*1650C>G) n.1572C>G c.2157C>G (p.Ser719=) c.2316C>G (p.Ser772=) c.1919C>G c.1498C>G c.635C>G (p.Pro212Arg) c.2013C>G (p.Ser671=) | |
X | g.53985149G>T | CA413252993 | PHF8 | c.1905C>A (p.Ser635=) c.2208C>A (p.Ser736=) c.*663C>A (n.*663C>A) c.*1650C>A (n.*1650C>A) n.1572C>A c.2157C>A (p.Ser719=) c.2316C>A (p.Ser772=) c.1919C>A c.1498C>A c.635C>A (p.Pro212His) c.2013C>A (p.Ser671=) | |
X | g.53985150G>A | CA413252996 | PHF8 | c.1904C>T (p.Ser635Phe) c.2207C>T (p.Ser736Phe) c.*662C>T (n.*662C>T) c.*1649C>T (n.*1649C>T) n.1571C>T c.2156C>T (p.Ser719Phe) c.2315C>T (p.Ser772Phe) c.1918C>T c.1497C>T c.634C>T (p.Pro212Ser) c.2012C>T (p.Ser671Phe) | |
X | g.53985150G>C | CA413252998 | PHF8 | c.1904C>G (p.Ser635Cys) c.2207C>G (p.Ser736Cys) c.*662C>G (n.*662C>G) c.*1649C>G (n.*1649C>G) n.1571C>G c.2156C>G (p.Ser719Cys) c.2315C>G (p.Ser772Cys) c.1918C>G c.1497C>G c.634C>G (p.Pro212Ala) c.2012C>G (p.Ser671Cys) | |
X | g.53985150G>T | CA413253000 | PHF8 | c.1904C>A (p.Ser635Tyr) c.2207C>A (p.Ser736Tyr) c.*662C>A (n.*662C>A) c.*1649C>A (n.*1649C>A) n.1571C>A c.2156C>A (p.Ser719Tyr) c.2315C>A (p.Ser772Tyr) c.1918C>A c.1497C>A c.634C>A (p.Pro212Thr) c.2012C>A (p.Ser671Tyr) | |
X | g.53985151A>C | CA413253003 | PHF8 | c.1903T>G (p.Ser635Ala) c.2206T>G (p.Ser736Ala) c.*661T>G (n.*661T>G) c.*1648T>G (n.*1648T>G) n.1570T>G c.2155T>G (p.Ser719Ala) c.2314T>G (p.Ser772Ala) c.1917T>G c.1496T>G c.633T>G (p.Arg211=) c.2011T>G (p.Ser671Ala) | |
X | g.53985151A>G | CA413253010 | PHF8 | c.1903T>C (p.Ser635Pro) c.2206T>C (p.Ser736Pro) c.*661T>C (n.*661T>C) c.*1648T>C (n.*1648T>C) n.1570T>C c.2155T>C (p.Ser719Pro) c.2314T>C (p.Ser772Pro) c.1917T>C c.1496T>C c.633T>C (p.Arg211=) c.2011T>C (p.Ser671Pro) | |
X | g.53985151A>T | CA413253007 | PHF8 | c.1903T>A (p.Ser635Thr) c.2206T>A (p.Ser736Thr) c.*661T>A (n.*661T>A) c.*1648T>A (n.*1648T>A) n.1570T>A c.2155T>A (p.Ser719Thr) c.2314T>A (p.Ser772Thr) c.1917T>A c.1496T>A c.633T>A (p.Arg211=) c.2011T>A (p.Ser671Thr) | |
X | g.53985152C>A | CA413253013 | PHF8 | c.1902G>T (p.Ser634=) c.2205G>T (p.Ser735=) c.*660G>T (n.*660G>T) c.*1647G>T (n.*1647G>T) n.1569G>T c.2154G>T (p.Ser718=) c.2313G>T (p.Ser771=) c.1916G>T c.1495G>T c.632G>T (p.Arg211Leu) c.2010G>T (p.Ser670=) | |
X | g.53985152C= | CA2430030708 | PHF8 | c.1902G= (p.Ser634=) c.2205G= (p.Ser735=) c.*660G= (n.*660G=) c.*1647G= (n.*1647G=) n.1569G= c.2154G= (p.Ser718=) c.2313G= (p.Ser771=) c.1916G= c.1495G= c.632G= (p.Arg211=) c.2010G= (p.Ser670=) | |
X | g.53985152C>G | CA413253018 | PHF8 | c.1902G>C (p.Ser634=) c.2205G>C (p.Ser735=) c.*660G>C (n.*660G>C) c.*1647G>C (n.*1647G>C) n.1569G>C c.2154G>C (p.Ser718=) c.2313G>C (p.Ser771=) c.1916G>C c.1495G>C c.632G>C (p.Arg211Pro) c.2010G>C (p.Ser670=) | |
X | g.53985152C>T | CA10423324 | PHF8 | c.1902G>A (p.Ser634=) c.2205G>A (p.Ser735=) c.*660G>A (n.*660G>A) c.*1647G>A (n.*1647G>A) n.1569G>A c.2154G>A (p.Ser718=) c.2313G>A (p.Ser771=) c.1916G>A c.1495G>A c.632G>A (p.Arg211His) c.2010G>A (p.Ser670=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53985153G>A | CA329924353 | PHF8 | c.1901C>T (p.Ser634Leu) c.2204C>T (p.Ser735Leu) c.*659C>T (n.*659C>T) c.*1646C>T (n.*1646C>T) n.1568C>T c.2153C>T (p.Ser718Leu) c.2312C>T (p.Ser771Leu) c.1915C>T c.1494C>T c.631C>T (p.Arg211Cys) c.2009C>T (p.Ser670Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
X | g.53985153G>C | CA413253024 | PHF8 | c.1901C>G (p.Ser634Trp) c.2204C>G (p.Ser735Trp) c.*659C>G (n.*659C>G) c.*1646C>G (n.*1646C>G) n.1568C>G c.2153C>G (p.Ser718Trp) c.2312C>G (p.Ser771Trp) c.1915C>G c.1494C>G c.631C>G (p.Arg211Gly) c.2009C>G (p.Ser670Trp) | |
X | g.53985153G= | CA2430030709 | PHF8 | c.1901C= (p.Ser634=) c.2204C= (p.Ser735=) c.*659C= (n.*659C=) c.*1646C= (n.*1646C=) n.1568C= c.2153C= (p.Ser718=) c.2312C= (p.Ser771=) c.1915C= c.1494C= c.631C= (p.Arg211=) c.2009C= (p.Ser670=) | |
X | g.53985153G>T | CA413253022 | PHF8 | c.1901C>A (p.Ser634Ter) c.2204C>A (p.Ser735Ter) c.*659C>A (n.*659C>A) c.*1646C>A (n.*1646C>A) n.1568C>A c.2153C>A (p.Ser718Ter) c.2312C>A (p.Ser771Ter) c.1915C>A c.1494C>A c.631C>A (p.Arg211Ser) c.2009C>A (p.Ser670Ter) | |
X | g.53985154A>C | CA413253028 | PHF8 | c.1900T>G (p.Ser634Ala) c.2203T>G (p.Ser735Ala) c.*658T>G (n.*658T>G) c.*1645T>G (n.*1645T>G) n.1567T>G c.2152T>G (p.Ser718Ala) c.2311T>G (p.Ser771Ala) c.1914T>G c.1493T>G c.630T>G (p.His210Gln) c.2008T>G (p.Ser670Ala) | |
X | g.53985154A>G | CA413253030 | PHF8 | c.1900T>C (p.Ser634Pro) c.2203T>C (p.Ser735Pro) c.*658T>C (n.*658T>C) c.*1645T>C (n.*1645T>C) n.1567T>C c.2152T>C (p.Ser718Pro) c.2311T>C (p.Ser771Pro) c.1914T>C c.1493T>C c.630T>C (p.His210=) c.2008T>C (p.Ser670Pro) | |
X | g.53985154A>T | CA413253032 | PHF8 | c.1900T>A (p.Ser634Thr) c.2203T>A (p.Ser735Thr) c.*658T>A (n.*658T>A) c.*1645T>A (n.*1645T>A) n.1567T>A c.2152T>A (p.Ser718Thr) c.2311T>A (p.Ser771Thr) c.1914T>A c.1493T>A c.630T>A (p.His210Gln) c.2008T>A (p.Ser670Thr) | |
X | g.53985155T>A | CA413253035 | PHF8 | c.1899A>T (p.Ser633=) c.2202A>T (p.Ser734=) c.*657A>T (n.*657A>T) c.*1644A>T (n.*1644A>T) n.1566A>T c.2151A>T (p.Ser717=) c.2310A>T (p.Ser770=) c.1913A>T c.1492A>T c.629A>T (p.His210Leu) c.2007A>T (p.Ser669=) | |
X | g.53985155T>C | CA413253037 | PHF8 | c.1899A>G (p.Ser633=) c.2202A>G (p.Ser734=) c.*657A>G (n.*657A>G) c.*1644A>G (n.*1644A>G) n.1566A>G c.2151A>G (p.Ser717=) c.2310A>G (p.Ser770=) c.1913A>G c.1492A>G c.629A>G (p.His210Arg) c.2007A>G (p.Ser669=) | gnomAD v4 |
X | g.53985155T>G | CA413253039 | PHF8 | c.1899A>C (p.Ser633=) c.2202A>C (p.Ser734=) c.*657A>C (n.*657A>C) c.*1644A>C (n.*1644A>C) n.1566A>C c.2151A>C (p.Ser717=) c.2310A>C (p.Ser770=) c.1913A>C c.1492A>C c.629A>C (p.His210Pro) c.2007A>C (p.Ser669=) | |
X | g.53985156G>A | CA413253044 | PHF8 | c.1898C>T (p.Ser633Leu) c.2201C>T (p.Ser734Leu) c.*656C>T (n.*656C>T) c.*1643C>T (n.*1643C>T) n.1565C>T c.2150C>T (p.Ser717Leu) c.2309C>T (p.Ser770Leu) c.1912C>T c.1491C>T c.628C>T (p.His210Tyr) c.2006C>T (p.Ser669Leu) | gnomAD v4 |
X | g.53985156G>C | CA413253046 | PHF8 | c.1898C>G (p.Ser633Ter) c.2201C>G (p.Ser734Ter) c.*656C>G (n.*656C>G) c.*1643C>G (n.*1643C>G) n.1565C>G c.2150C>G (p.Ser717Ter) c.2309C>G (p.Ser770Ter) c.1912C>G c.1491C>G c.628C>G (p.His210Asp) c.2006C>G (p.Ser669Ter) | |
X | g.53985156G>T | CA413253048 | PHF8 | c.1898C>A (p.Ser633Ter) c.2201C>A (p.Ser734Ter) c.*656C>A (n.*656C>A) c.*1643C>A (n.*1643C>A) n.1565C>A c.2150C>A (p.Ser717Ter) c.2309C>A (p.Ser770Ter) c.1912C>A c.1491C>A c.628C>A (p.His210Asn) c.2006C>A (p.Ser669Ter) | |
X | g.53985157A>C | CA413253050 | PHF8 | c.1897T>G (p.Ser633Ala) c.2200T>G (p.Ser734Ala) c.*655T>G (n.*655T>G) c.*1642T>G (n.*1642T>G) n.1564T>G c.2149T>G (p.Ser717Ala) c.2308T>G (p.Ser770Ala) c.1911T>G c.1490T>G c.627T>G (p.Pro209=) c.2005T>G (p.Ser669Ala) | |
X | g.53985157A>G | CA413253052 | PHF8 | c.1897T>C (p.Ser633Pro) c.2200T>C (p.Ser734Pro) c.*655T>C (n.*655T>C) c.*1642T>C (n.*1642T>C) n.1564T>C c.2149T>C (p.Ser717Pro) c.2308T>C (p.Ser770Pro) c.1911T>C c.1490T>C c.627T>C (p.Pro209=) c.2005T>C (p.Ser669Pro) | gnomAD v4 |
X | g.53985157A>T | CA413253054 | PHF8 | c.1897T>A (p.Ser633Thr) c.2200T>A (p.Ser734Thr) c.*655T>A (n.*655T>A) c.*1642T>A (n.*1642T>A) n.1564T>A c.2149T>A (p.Ser717Thr) c.2308T>A (p.Ser770Thr) c.1911T>A c.1490T>A c.627T>A (p.Pro209=) c.2005T>A (p.Ser669Thr) | |
X | g.53985158G>A | CA10423325 | PHF8 | c.1896C>T (p.Ser632=) c.2199C>T (p.Ser733=) c.*654C>T (n.*654C>T) c.*1641C>T (n.*1641C>T) n.1563C>T c.2148C>T (p.Ser716=) c.2307C>T (p.Ser769=) c.1910C>T c.1489C>T c.626C>T (p.Pro209Leu) c.2004C>T (p.Ser668=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53985158G>C | CA413253060 | PHF8 | c.1896C>G (p.Ser632=) c.2199C>G (p.Ser733=) c.*654C>G (n.*654C>G) c.*1641C>G (n.*1641C>G) n.1563C>G c.2148C>G (p.Ser716=) c.2307C>G (p.Ser769=) c.1910C>G c.1489C>G c.626C>G (p.Pro209Arg) c.2004C>G (p.Ser668=) | gnomAD v4 |
X | g.53985158G= | CA2430030710 | PHF8 | c.1896C= (p.Ser632=) c.2199C= (p.Ser733=) c.*654C= (n.*654C=) c.*1641C= (n.*1641C=) n.1563C= c.2148C= (p.Ser716=) c.2307C= (p.Ser769=) c.1910C= c.1489C= c.626C= (p.Pro209=) c.2004C= (p.Ser668=) | |
X | g.53985158G>T | CA413253057 | PHF8 | c.1896C>A (p.Ser632=) c.2199C>A (p.Ser733=) c.*654C>A (n.*654C>A) c.*1641C>A (n.*1641C>A) n.1563C>A c.2148C>A (p.Ser716=) c.2307C>A (p.Ser769=) c.1910C>A c.1489C>A c.626C>A (p.Pro209His) c.2004C>A (p.Ser668=) | |
X | g.53985159G>A | CA413253063 | PHF8 | c.1895C>T (p.Ser632Phe) c.2198C>T (p.Ser733Phe) c.*653C>T (n.*653C>T) c.*1640C>T (n.*1640C>T) n.1562C>T c.2147C>T (p.Ser716Phe) c.2306C>T (p.Ser769Phe) c.1909C>T c.1488C>T c.625C>T (p.Pro209Ser) c.2003C>T (p.Ser668Phe) | |
X | g.53985159G>C | CA413253066 | PHF8 | c.1895C>G (p.Ser632Cys) c.2198C>G (p.Ser733Cys) c.*653C>G (n.*653C>G) c.*1640C>G (n.*1640C>G) n.1562C>G c.2147C>G (p.Ser716Cys) c.2306C>G (p.Ser769Cys) c.1909C>G c.1488C>G c.625C>G (p.Pro209Ala) c.2003C>G (p.Ser668Cys) | |
X | g.53985159G>T | CA413253068 | PHF8 | c.1895C>A (p.Ser632Tyr) c.2198C>A (p.Ser733Tyr) c.*653C>A (n.*653C>A) c.*1640C>A (n.*1640C>A) n.1562C>A c.2147C>A (p.Ser716Tyr) c.2306C>A (p.Ser769Tyr) c.1909C>A c.1488C>A c.625C>A (p.Pro209Thr) c.2003C>A (p.Ser668Tyr) | |
X | g.53985160A= | CA2430030711 | PHF8 | c.1894T= (p.Ser632=) c.2197T= (p.Ser733=) c.*652T= (n.*652T=) c.*1639T= (n.*1639T=) n.1561T= c.2146T= (p.Ser716=) c.2305T= (p.Ser769=) c.1908T= c.1487T= c.624T= (p.Ser208=) c.2002T= (p.Ser668=) | |
X | g.53985160A>C | CA413253073 | PHF8 | c.1894T>G (p.Ser632Ala) c.2197T>G (p.Ser733Ala) c.*652T>G (n.*652T>G) c.*1639T>G (n.*1639T>G) n.1561T>G c.2146T>G (p.Ser716Ala) c.2305T>G (p.Ser769Ala) c.1908T>G c.1487T>G c.624T>G (p.Ser208Arg) c.2002T>G (p.Ser668Ala) | dbSNP gnomAD v2 gnomAD v4 |
X | g.53985160A>G | CA413253075 | PHF8 | c.1894T>C (p.Ser632Pro) c.2197T>C (p.Ser733Pro) c.*652T>C (n.*652T>C) c.*1639T>C (n.*1639T>C) n.1561T>C c.2146T>C (p.Ser716Pro) c.2305T>C (p.Ser769Pro) c.1908T>C c.1487T>C c.624T>C (p.Ser208=) c.2002T>C (p.Ser668Pro) | |
X | g.53985160A>T | CA413253077 | PHF8 | c.1894T>A (p.Ser632Thr) c.2197T>A (p.Ser733Thr) c.*652T>A (n.*652T>A) c.*1639T>A (n.*1639T>A) n.1561T>A c.2146T>A (p.Ser716Thr) c.2305T>A (p.Ser769Thr) c.1908T>A c.1487T>A c.624T>A (p.Ser208Arg) c.2002T>A (p.Ser668Thr) | |
X | g.53985161C>A | CA413253079 | PHF8 | c.1893G>T (p.Gln631His) c.2196G>T (p.Gln732His) c.*651G>T (n.*651G>T) c.*1638G>T (n.*1638G>T) n.1560G>T c.2145G>T (p.Gln715His) c.2304G>T (p.Gln768His) c.1907G>T c.1486G>T c.623G>T (p.Ser208Ile) c.2001G>T (p.Gln667His) | |
X | g.53985161C>G | CA413253081 | PHF8 | c.1893G>C (p.Gln631His) c.2196G>C (p.Gln732His) c.*651G>C (n.*651G>C) c.*1638G>C (n.*1638G>C) n.1560G>C c.2145G>C (p.Gln715His) c.2304G>C (p.Gln768His) c.1907G>C c.1486G>C c.623G>C (p.Ser208Thr) c.2001G>C (p.Gln667His) | |
X | g.53985161C>T | CA413253082 | PHF8 | c.1893G>A (p.Gln631=) c.2196G>A (p.Gln732=) c.*651G>A (n.*651G>A) c.*1638G>A (n.*1638G>A) n.1560G>A c.2145G>A (p.Gln715=) c.2304G>A (p.Gln768=) c.1907G>A c.1486G>A c.623G>A (p.Ser208Asn) c.2001G>A (p.Gln667=) | |
X | g.53985162T>A | CA329924354 | PHF8 | c.1892A>T (p.Gln631Leu) c.2195A>T (p.Gln732Leu) c.*650A>T (n.*650A>T) c.*1637A>T (n.*1637A>T) n.1559A>T c.2144A>T (p.Gln715Leu) c.2303A>T (p.Gln768Leu) c.1906A>T c.1485A>T c.622A>T (p.Ser208Cys) c.2000A>T (p.Gln667Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53985162T>C | CA413253085 | PHF8 | c.1892A>G (p.Gln631Arg) c.2195A>G (p.Gln732Arg) c.*650A>G (n.*650A>G) c.*1637A>G (n.*1637A>G) n.1559A>G c.2144A>G (p.Gln715Arg) c.2303A>G (p.Gln768Arg) c.1906A>G c.1485A>G c.622A>G (p.Ser208Gly) c.2000A>G (p.Gln667Arg) | |
X | g.53985162T>G | CA413253083 | PHF8 | c.1892A>C (p.Gln631Pro) c.2195A>C (p.Gln732Pro) c.*650A>C (n.*650A>C) c.*1637A>C (n.*1637A>C) n.1559A>C c.2144A>C (p.Gln715Pro) c.2303A>C (p.Gln768Pro) c.1906A>C c.1485A>C c.622A>C (p.Ser208Arg) c.2000A>C (p.Gln667Pro) | |
X | g.53985162T= | CA2430030712 | PHF8 | c.1892A= (p.Gln631=) c.2195A= (p.Gln732=) c.*650A= (n.*650A=) c.*1637A= (n.*1637A=) n.1559A= c.2144A= (p.Gln715=) c.2303A= (p.Gln768=) c.1906A= c.1485A= c.622A= (p.Ser208=) c.2000A= (p.Gln667=) | |
X | g.53985163G>A | CA413253088 | PHF8 | c.1891C>T (p.Gln631Ter) c.2194C>T (p.Gln732Ter) c.*649C>T (n.*649C>T) c.*1636C>T (n.*1636C>T) n.1558C>T c.2143C>T (p.Gln715Ter) c.2302C>T (p.Gln768Ter) c.1905C>T c.1484C>T c.621C>T (p.Cys207=) c.1999C>T (p.Gln667Ter) | |
X | g.53985163G>C | CA413253090 | PHF8 | c.1891C>G (p.Gln631Glu) c.2194C>G (p.Gln732Glu) c.*649C>G (n.*649C>G) c.*1636C>G (n.*1636C>G) n.1558C>G c.2143C>G (p.Gln715Glu) c.2302C>G (p.Gln768Glu) c.1905C>G c.1484C>G c.621C>G (p.Cys207Trp) c.1999C>G (p.Gln667Glu) | |
X | g.53985163G>T | CA413253091 | PHF8 | c.1891C>A (p.Gln631Lys) c.2194C>A (p.Gln732Lys) c.*649C>A (n.*649C>A) c.*1636C>A (n.*1636C>A) n.1558C>A c.2143C>A (p.Gln715Lys) c.2302C>A (p.Gln768Lys) c.1905C>A c.1484C>A c.621C>A (p.Cys207Ter) c.1999C>A (p.Gln667Lys) | gnomAD v4 |
X | g.53985164C>A | CA413253094 | PHF8 | c.1890G>T (p.Leu630=) c.2193G>T (p.Leu731=) c.*648G>T (n.*648G>T) c.*1635G>T (n.*1635G>T) n.1557G>T c.2142G>T (p.Leu714=) c.2301G>T (p.Leu767=) c.1904G>T c.1483G>T c.620G>T (p.Cys207Phe) c.1998G>T (p.Leu666=) | |
X | g.53985164C>G | CA413253096 | PHF8 | c.1890G>C (p.Leu630=) c.2193G>C (p.Leu731=) c.*648G>C (n.*648G>C) c.*1635G>C (n.*1635G>C) n.1557G>C c.2142G>C (p.Leu714=) c.2301G>C (p.Leu767=) c.1904G>C c.1483G>C c.620G>C (p.Cys207Ser) c.1998G>C (p.Leu666=) | |
X | g.53985164C>T | CA413253098 | PHF8 | c.1890G>A (p.Leu630=) c.2193G>A (p.Leu731=) c.*648G>A (n.*648G>A) c.*1635G>A (n.*1635G>A) n.1557G>A c.2142G>A (p.Leu714=) c.2301G>A (p.Leu767=) c.1904G>A c.1483G>A c.620G>A (p.Cys207Tyr) c.1998G>A (p.Leu666=) | |
X | g.53985165A= | CA2430030713 | PHF8 | c.1889T= (p.Leu630=) c.2192T= (p.Leu731=) c.*647T= (n.*647T=) c.*1634T= (n.*1634T=) n.1556T= c.2141T= (p.Leu714=) c.2300T= (p.Leu767=) c.1903T= c.1482T= c.619T= (p.Cys207=) c.1997T= (p.Leu666=) | |
X | g.53985165A>C | CA413253100 | PHF8 | c.1889T>G (p.Leu630Arg) c.2192T>G (p.Leu731Arg) c.*647T>G (n.*647T>G) c.*1634T>G (n.*1634T>G) n.1556T>G c.2141T>G (p.Leu714Arg) c.2300T>G (p.Leu767Arg) c.1903T>G c.1482T>G c.619T>G (p.Cys207Gly) c.1997T>G (p.Leu666Arg) | |
X | g.53985165A>G | CA413253102 | PHF8 | c.1889T>C (p.Leu630Pro) c.2192T>C (p.Leu731Pro) c.*647T>C (n.*647T>C) c.*1634T>C (n.*1634T>C) n.1556T>C c.2141T>C (p.Leu714Pro) c.2300T>C (p.Leu767Pro) c.1903T>C c.1482T>C c.619T>C (p.Cys207Arg) c.1997T>C (p.Leu666Pro) | dbSNP |
X | g.53985165A>T | CA413253104 | PHF8 | c.1889T>A (p.Leu630Gln) c.2192T>A (p.Leu731Gln) c.*647T>A (n.*647T>A) c.*1634T>A (n.*1634T>A) n.1556T>A c.2141T>A (p.Leu714Gln) c.2300T>A (p.Leu767Gln) c.1903T>A c.1482T>A c.619T>A (p.Cys207Ser) c.1997T>A (p.Leu666Gln) | |
X | g.53985166G>A | CA516689338 | PHF8 | c.1888C>T (p.Leu630=) c.2191C>T (p.Leu731=) c.*646C>T (n.*646C>T) c.*1633C>T (n.*1633C>T) n.1555C>T c.2140C>T (p.Leu714=) c.2299C>T (p.Leu767=) c.1902C>T c.1481C>T c.618C>T (p.Thr206=) c.1996C>T (p.Leu666=) | |
X | g.53985166G>C | CA413253106 | PHF8 | c.1888C>G (p.Leu630Val) c.2191C>G (p.Leu731Val) c.*646C>G (n.*646C>G) c.*1633C>G (n.*1633C>G) n.1555C>G c.2140C>G (p.Leu714Val) c.2299C>G (p.Leu767Val) c.1902C>G c.1481C>G c.618C>G (p.Thr206=) c.1996C>G (p.Leu666Val) | |
X | g.53985166G>T | CA413253108 | PHF8 | c.1888C>A (p.Leu630Met) c.2191C>A (p.Leu731Met) c.*646C>A (n.*646C>A) c.*1633C>A (n.*1633C>A) n.1555C>A c.2140C>A (p.Leu714Met) c.2299C>A (p.Leu767Met) c.1902C>A c.1481C>A c.618C>A (p.Thr206=) c.1996C>A (p.Leu666Met) | |
X | g.53985167G>A | CA329924355 | PHF8 | c.1887C>T (p.Asn629=) c.2190C>T (p.Asn730=) c.*645C>T (n.*645C>T) c.*1632C>T (n.*1632C>T) n.1554C>T c.2139C>T (p.Asn713=) c.2298C>T (p.Asn766=) c.1901C>T c.1480C>T c.617C>T (p.Thr206Ile) c.1995C>T (p.Asn665=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.53985167G>C | CA413253112 | PHF8 | c.1887C>G (p.Asn629Lys) c.2190C>G (p.Asn730Lys) c.*645C>G (n.*645C>G) c.*1632C>G (n.*1632C>G) n.1554C>G c.2139C>G (p.Asn713Lys) c.2298C>G (p.Asn766Lys) c.1901C>G c.1480C>G c.617C>G (p.Thr206Ser) c.1995C>G (p.Asn665Lys) | |
X | g.53985167G= | CA2430030714 | PHF8 | c.1887C= (p.Asn629=) c.2190C= (p.Asn730=) c.*645C= (n.*645C=) c.*1632C= (n.*1632C=) n.1554C= c.2139C= (p.Asn713=) c.2298C= (p.Asn766=) c.1901C= c.1480C= c.617C= (p.Thr206=) c.1995C= (p.Asn665=) | |
X | g.53985167G>T | CA413253111 | PHF8 | c.1887C>A (p.Asn629Lys) c.2190C>A (p.Asn730Lys) c.*645C>A (n.*645C>A) c.*1632C>A (n.*1632C>A) n.1554C>A c.2139C>A (p.Asn713Lys) c.2298C>A (p.Asn766Lys) c.1901C>A c.1480C>A c.617C>A (p.Thr206Asn) c.1995C>A (p.Asn665Lys) | |
X | g.53985168T>A | CA413253116 | PHF8 | c.1886A>T (p.Asn629Ile) c.2189A>T (p.Asn730Ile) c.*644A>T (n.*644A>T) c.*1631A>T (n.*1631A>T) n.1553A>T c.2138A>T (p.Asn713Ile) c.2297A>T (p.Asn766Ile) c.1900A>T c.1479A>T c.616A>T (p.Thr206Ser) c.1994A>T (p.Asn665Ile) | |
X | g.53985168T>C | CA413253118 | PHF8 | c.1886A>G (p.Asn629Ser) c.2189A>G (p.Asn730Ser) c.*644A>G (n.*644A>G) c.*1631A>G (n.*1631A>G) n.1553A>G c.2138A>G (p.Asn713Ser) c.2297A>G (p.Asn766Ser) c.1900A>G c.1479A>G c.616A>G (p.Thr206Ala) c.1994A>G (p.Asn665Ser) | gnomAD v4 |
X | g.53985168T>G | CA413253120 | PHF8 | c.1886A>C (p.Asn629Thr) c.2189A>C (p.Asn730Thr) c.*644A>C (n.*644A>C) c.*1631A>C (n.*1631A>C) n.1553A>C c.2138A>C (p.Asn713Thr) c.2297A>C (p.Asn766Thr) c.1900A>C c.1479A>C c.616A>C (p.Thr206Pro) c.1994A>C (p.Asn665Thr) | |
X | g.53985169T>A | CA413253123 | PHF8 | c.1885A>T (p.Asn629Tyr) c.2188A>T (p.Asn730Tyr) c.*643A>T (n.*643A>T) c.*1630A>T (n.*1630A>T) n.1552A>T c.2137A>T (p.Asn713Tyr) c.2296A>T (p.Asn766Tyr) c.1899A>T c.1478A>T c.615A>T (p.Pro205=) c.1993A>T (p.Asn665Tyr) | |
X | g.53985169T>C | CA413253124 | PHF8 | c.1885A>G (p.Asn629Asp) c.2188A>G (p.Asn730Asp) c.*643A>G (n.*643A>G) c.*1630A>G (n.*1630A>G) n.1552A>G c.2137A>G (p.Asn713Asp) c.2296A>G (p.Asn766Asp) c.1899A>G c.1478A>G c.615A>G (p.Pro205=) c.1993A>G (p.Asn665Asp) | |
X | g.53985169T>G | CA413253126 | PHF8 | c.1885A>C (p.Asn629His) c.2188A>C (p.Asn730His) c.*643A>C (n.*643A>C) c.*1630A>C (n.*1630A>C) n.1552A>C c.2137A>C (p.Asn713His) c.2296A>C (p.Asn766His) c.1899A>C c.1478A>C c.615A>C (p.Pro205=) c.1993A>C (p.Asn665His) | |
X | g.53985170G>A | CA413253129 | PHF8 | c.1884C>T (p.Ala628=) c.2187C>T (p.Ala729=) c.*642C>T (n.*642C>T) c.*1629C>T (n.*1629C>T) n.1551C>T c.2136C>T (p.Ala712=) c.2295C>T (p.Ala765=) c.1898C>T c.1477C>T c.614C>T (p.Pro205Leu) c.1992C>T (p.Ala664=) | |
X | g.53985170G>C | CA413253130 | PHF8 | c.1884C>G (p.Ala628=) c.2187C>G (p.Ala729=) c.*642C>G (n.*642C>G) c.*1629C>G (n.*1629C>G) n.1551C>G c.2136C>G (p.Ala712=) c.2295C>G (p.Ala765=) c.1898C>G c.1477C>G c.614C>G (p.Pro205Arg) c.1992C>G (p.Ala664=) | |
X | g.53985170G>T | CA413253132 | PHF8 | c.1884C>A (p.Ala628=) c.2187C>A (p.Ala729=) c.*642C>A (n.*642C>A) c.*1629C>A (n.*1629C>A) n.1551C>A c.2136C>A (p.Ala712=) c.2295C>A (p.Ala765=) c.1898C>A c.1477C>A c.614C>A (p.Pro205Gln) c.1992C>A (p.Ala664=) | |
X | g.53985171G>A | CA413253135 | PHF8 | c.1883C>T (p.Ala628Val) c.2186C>T (p.Ala729Val) c.*641C>T (n.*641C>T) c.*1628C>T (n.*1628C>T) n.1550C>T c.2135C>T (p.Ala712Val) c.2294C>T (p.Ala765Val) c.1897C>T c.1476C>T c.613C>T (p.Pro205Ser) c.1991C>T (p.Ala664Val) | |
X | g.53985171G>C | CA413253136 | PHF8 | c.1883C>G (p.Ala628Gly) c.2186C>G (p.Ala729Gly) c.*641C>G (n.*641C>G) c.*1628C>G (n.*1628C>G) n.1550C>G c.2135C>G (p.Ala712Gly) c.2294C>G (p.Ala765Gly) c.1897C>G c.1476C>G c.613C>G (p.Pro205Ala) c.1991C>G (p.Ala664Gly) | |
X | g.53985171G>T | CA413253139 | PHF8 | c.1883C>A (p.Ala628Asp) c.2186C>A (p.Ala729Asp) c.*641C>A (n.*641C>A) c.*1628C>A (n.*1628C>A) n.1550C>A c.2135C>A (p.Ala712Asp) c.2294C>A (p.Ala765Asp) c.1897C>A c.1476C>A c.613C>A (p.Pro205Thr) c.1991C>A (p.Ala664Asp) | |
X | g.53985172C>A | CA413253143 | PHF8 | c.1882G>T (p.Ala628Ser) c.2185G>T (p.Ala729Ser) c.*640G>T (n.*640G>T) c.*1627G>T (n.*1627G>T) n.1549G>T c.2134G>T (p.Ala712Ser) c.2293G>T (p.Ala765Ser) c.1896G>T c.1475G>T c.612G>T (p.Trp204Cys) c.1990G>T (p.Ala664Ser) | |
X | g.53985172C>G | CA413253145 | PHF8 | c.1882G>C (p.Ala628Pro) c.2185G>C (p.Ala729Pro) c.*640G>C (n.*640G>C) c.*1627G>C (n.*1627G>C) n.1549G>C c.2134G>C (p.Ala712Pro) c.2293G>C (p.Ala765Pro) c.1896G>C c.1475G>C c.612G>C (p.Trp204Cys) c.1990G>C (p.Ala664Pro) | |
X | g.53985172C>T | CA413253141 | PHF8 | c.1882G>A (p.Ala628Thr) c.2185G>A (p.Ala729Thr) c.*640G>A (n.*640G>A) c.*1627G>A (n.*1627G>A) n.1549G>A c.2134G>A (p.Ala712Thr) c.2293G>A (p.Ala765Thr) c.1896G>A c.1475G>A c.612G>A (p.Trp204Ter) c.1990G>A (p.Ala664Thr) | gnomAD v4 |
X | g.53985173C>A | CA413253146 | PHF8 | c.1881G>T (p.Met627Ile) c.2184G>T (p.Met728Ile) c.*639G>T (n.*639G>T) c.*1626G>T (n.*1626G>T) n.1548G>T c.2133G>T (p.Met711Ile) c.2292G>T (p.Met764Ile) c.1895G>T c.1474G>T c.611G>T (p.Trp204Leu) c.1989G>T (p.Met663Ile) | |
X | g.53985173C>G | CA413253147 | PHF8 | c.1881G>C (p.Met627Ile) c.2184G>C (p.Met728Ile) c.*639G>C (n.*639G>C) c.*1626G>C (n.*1626G>C) n.1548G>C c.2133G>C (p.Met711Ile) c.2292G>C (p.Met764Ile) c.1895G>C c.1474G>C c.611G>C (p.Trp204Ser) c.1989G>C (p.Met663Ile) | |
X | g.53985173C>T | CA413253150 | PHF8 | c.1881G>A (p.Met627Ile) c.2184G>A (p.Met728Ile) c.*639G>A (n.*639G>A) c.*1626G>A (n.*1626G>A) n.1548G>A c.2133G>A (p.Met711Ile) c.2292G>A (p.Met764Ile) c.1895G>A c.1474G>A c.611G>A (p.Trp204Ter) c.1989G>A (p.Met663Ile) | |
X | g.53985174A>C | CA413253153 | PHF8 | c.1880T>G (p.Met627Arg) c.2183T>G (p.Met728Arg) c.*638T>G (n.*638T>G) c.*1625T>G (n.*1625T>G) n.1547T>G c.2132T>G (p.Met711Arg) c.2291T>G (p.Met764Arg) c.1894T>G c.1473T>G c.610T>G (p.Trp204Gly) c.1988T>G (p.Met663Arg) | |
X | g.53985174A>G | CA413253155 | PHF8 | c.1880T>C (p.Met627Thr) c.2183T>C (p.Met728Thr) c.*638T>C (n.*638T>C) c.*1625T>C (n.*1625T>C) n.1547T>C c.2132T>C (p.Met711Thr) c.2291T>C (p.Met764Thr) c.1894T>C c.1473T>C c.610T>C (p.Trp204Arg) c.1988T>C (p.Met663Thr) | |
X | g.53985174A>T | CA413253157 | PHF8 | c.1880T>A (p.Met627Lys) c.2183T>A (p.Met728Lys) c.*638T>A (n.*638T>A) c.*1625T>A (n.*1625T>A) n.1547T>A c.2132T>A (p.Met711Lys) c.2291T>A (p.Met764Lys) c.1894T>A c.1473T>A c.610T>A (p.Trp204Arg) c.1988T>A (p.Met663Lys) | |
X | g.53985175T>A | CA413253159 | PHF8 | c.1879A>T (p.Met627Leu) c.2182A>T (p.Met728Leu) c.*637A>T (n.*637A>T) c.*1624A>T (n.*1624A>T) n.1546A>T c.2131A>T (p.Met711Leu) c.2290A>T (p.Met764Leu) c.1893A>T c.1472A>T c.609A>T (p.Ala203=) c.1987A>T (p.Met663Leu) | |
X | g.53985175T>C | CA413253161 | PHF8 | c.1879A>G (p.Met627Val) c.2182A>G (p.Met728Val) c.*637A>G (n.*637A>G) c.*1624A>G (n.*1624A>G) n.1546A>G c.2131A>G (p.Met711Val) c.2290A>G (p.Met764Val) c.1893A>G c.1472A>G c.609A>G (p.Ala203=) c.1987A>G (p.Met663Val) | |
X | g.53985175T>G | CA413253163 | PHF8 | c.1879A>C (p.Met627Leu) c.2182A>C (p.Met728Leu) c.*637A>C (n.*637A>C) c.*1624A>C (n.*1624A>C) n.1546A>C c.2131A>C (p.Met711Leu) c.2290A>C (p.Met764Leu) c.1893A>C c.1472A>C c.609A>C (p.Ala203=) c.1987A>C (p.Met663Leu) | |
X | g.53985176G>A | CA413253165 | PHF8 | c.1878C>T (p.Cys626=) c.2181C>T (p.Cys727=) c.*636C>T (n.*636C>T) c.*1623C>T (n.*1623C>T) n.1545C>T c.2130C>T (p.Cys710=) c.2289C>T (p.Cys763=) c.1892C>T c.1471C>T c.608C>T (p.Ala203Val) c.1986C>T (p.Cys662=) | gnomAD v4 |
X | g.53985176G>C | CA413253167 | PHF8 | c.1878C>G (p.Cys626Trp) c.2181C>G (p.Cys727Trp) c.*636C>G (n.*636C>G) c.*1623C>G (n.*1623C>G) n.1545C>G c.2130C>G (p.Cys710Trp) c.2289C>G (p.Cys763Trp) c.1892C>G c.1471C>G c.608C>G (p.Ala203Gly) c.1986C>G (p.Cys662Trp) | |
X | g.53985176G>T | CA413253169 | PHF8 | c.1878C>A (p.Cys626Ter) c.2181C>A (p.Cys727Ter) c.*636C>A (n.*636C>A) c.*1623C>A (n.*1623C>A) n.1545C>A c.2130C>A (p.Cys710Ter) c.2289C>A (p.Cys763Ter) c.1892C>A c.1471C>A c.608C>A (p.Ala203Glu) c.1986C>A (p.Cys662Ter) | |
X | g.53985177C>A | CA413253175 | PHF8 | c.1877G>T (p.Cys626Phe) c.2180G>T (p.Cys727Phe) c.*635G>T (n.*635G>T) c.*1622G>T (n.*1622G>T) n.1544G>T c.2129G>T (p.Cys710Phe) c.2288G>T (p.Cys763Phe) c.1891G>T c.1470G>T c.607G>T (p.Ala203Ser) c.1985G>T (p.Cys662Phe) | |
X | g.53985177C>G | CA413253173 | PHF8 | c.1877G>C (p.Cys626Ser) c.2180G>C (p.Cys727Ser) c.*635G>C (n.*635G>C) c.*1622G>C (n.*1622G>C) n.1544G>C c.2129G>C (p.Cys710Ser) c.2288G>C (p.Cys763Ser) c.1891G>C c.1470G>C c.607G>C (p.Ala203Pro) c.1985G>C (p.Cys662Ser) | |
X | g.53985177C>T | CA413253171 | PHF8 | c.1877G>A (p.Cys626Tyr) c.2180G>A (p.Cys727Tyr) c.*635G>A (n.*635G>A) c.*1622G>A (n.*1622G>A) n.1544G>A c.2129G>A (p.Cys710Tyr) c.2288G>A (p.Cys763Tyr) c.1891G>A c.1470G>A c.607G>A (p.Ala203Thr) c.1985G>A (p.Cys662Tyr) | |
X | g.53985178A>C | CA413253177 | PHF8 | c.1876T>G (p.Cys626Gly) c.2179T>G (p.Cys727Gly) c.*634T>G (n.*634T>G) c.*1621T>G (n.*1621T>G) n.1543T>G c.2128T>G (p.Cys710Gly) c.2287T>G (p.Cys763Gly) c.1890T>G c.1469T>G c.606T>G (p.Cys202Trp) c.1984T>G (p.Cys662Gly) | |
X | g.53985178A>G | CA413253179 | PHF8 | c.1876T>C (p.Cys626Arg) c.2179T>C (p.Cys727Arg) c.*634T>C (n.*634T>C) c.*1621T>C (n.*1621T>C) n.1543T>C c.2128T>C (p.Cys710Arg) c.2287T>C (p.Cys763Arg) c.1890T>C c.1469T>C c.606T>C (p.Cys202=) c.1984T>C (p.Cys662Arg) | |
X | g.53985178A>T | CA413253181 | PHF8 | c.1876T>A (p.Cys626Ser) c.2179T>A (p.Cys727Ser) c.*634T>A (n.*634T>A) c.*1621T>A (n.*1621T>A) n.1543T>A c.2128T>A (p.Cys710Ser) c.2287T>A (p.Cys763Ser) c.1890T>A c.1469T>A c.606T>A (p.Cys202Ter) c.1984T>A (p.Cys662Ser) | |
X | g.53985179C>A | CA413253183 | PHF8 | c.1875G>T (p.Leu625=) c.2178G>T (p.Leu726=) c.*633G>T (n.*633G>T) c.*1620G>T (n.*1620G>T) n.1542G>T c.2127G>T (p.Leu709=) c.2286G>T (p.Leu762=) c.1889G>T c.1468G>T c.605G>T (p.Cys202Phe) c.1983G>T (p.Leu661=) | |
X | g.53985179C>G | CA413253186 | PHF8 | c.1875G>C (p.Leu625=) c.2178G>C (p.Leu726=) c.*633G>C (n.*633G>C) c.*1620G>C (n.*1620G>C) n.1542G>C c.2127G>C (p.Leu709=) c.2286G>C (p.Leu762=) c.1889G>C c.1468G>C c.605G>C (p.Cys202Ser) c.1983G>C (p.Leu661=) | |
X | g.53985179C>T | CA413253188 | PHF8 | c.1875G>A (p.Leu625=) c.2178G>A (p.Leu726=) c.*633G>A (n.*633G>A) c.*1620G>A (n.*1620G>A) n.1542G>A c.2127G>A (p.Leu709=) c.2286G>A (p.Leu762=) c.1889G>A c.1468G>A c.605G>A (p.Cys202Tyr) c.1983G>A (p.Leu661=) | gnomAD v4 |
X | g.53985180A>C | CA413253190 | PHF8 | c.1874T>G (p.Leu625Arg) c.2177T>G (p.Leu726Arg) c.*632T>G (n.*632T>G) c.*1619T>G (n.*1619T>G) n.1541T>G c.2126T>G (p.Leu709Arg) c.2285T>G (p.Leu762Arg) c.1888T>G c.1467T>G c.604T>G (p.Cys202Gly) c.1982T>G (p.Leu661Arg) | |
X | g.53985180A>G | CA413253192 | PHF8 | c.1874T>C (p.Leu625Pro) c.2177T>C (p.Leu726Pro) c.*632T>C (n.*632T>C) c.*1619T>C (n.*1619T>C) n.1541T>C c.2126T>C (p.Leu709Pro) c.2285T>C (p.Leu762Pro) c.1888T>C c.1467T>C c.604T>C (p.Cys202Arg) c.1982T>C (p.Leu661Pro) | |
X | g.53985180A>T | CA413253194 | PHF8 | c.1874T>A (p.Leu625Gln) c.2177T>A (p.Leu726Gln) c.*632T>A (n.*632T>A) c.*1619T>A (n.*1619T>A) n.1541T>A c.2126T>A (p.Leu709Gln) c.2285T>A (p.Leu762Gln) c.1888T>A c.1467T>A c.604T>A (p.Cys202Ser) c.1982T>A (p.Leu661Gln) | |
X | g.53985181G>A | CA516689369 | PHF8 | c.1873C>T (p.Leu625=) c.2176C>T (p.Leu726=) c.*631C>T (n.*631C>T) c.*1618C>T (n.*1618C>T) n.1540C>T c.2125C>T (p.Leu709=) c.2284C>T (p.Leu762=) c.1887C>T c.1466C>T c.603C>T (p.Cys201=) c.1981C>T (p.Leu661=) | gnomAD v4 |
X | g.53985181G>C | CA413253196 | PHF8 | c.1873C>G (p.Leu625Val) c.2176C>G (p.Leu726Val) c.*631C>G (n.*631C>G) c.*1618C>G (n.*1618C>G) n.1540C>G c.2125C>G (p.Leu709Val) c.2284C>G (p.Leu762Val) c.1887C>G c.1466C>G c.603C>G (p.Cys201Trp) c.1981C>G (p.Leu661Val) | |
X | g.53985181G>T | CA413253198 | PHF8 | c.1873C>A (p.Leu625Met) c.2176C>A (p.Leu726Met) c.*631C>A (n.*631C>A) c.*1618C>A (n.*1618C>A) n.1540C>A c.2125C>A (p.Leu709Met) c.2284C>A (p.Leu762Met) c.1887C>A c.1466C>A c.603C>A (p.Cys201Ter) c.1981C>A (p.Leu661Met) | |
X | g.53985182C>A | CA413253201 | PHF8 | c.1872G>T (p.Met624Ile) c.2175G>T (p.Met725Ile) c.*630G>T (n.*630G>T) c.*1617G>T (n.*1617G>T) n.1539G>T c.2124G>T (p.Met708Ile) c.2283G>T (p.Met761Ile) c.1886G>T c.1465G>T c.602G>T (p.Cys201Phe) c.1980G>T (p.Met660Ile) | |
X | g.53985182C>G | CA413253202 | PHF8 | c.1872G>C (p.Met624Ile) c.2175G>C (p.Met725Ile) c.*630G>C (n.*630G>C) c.*1617G>C (n.*1617G>C) n.1539G>C c.2124G>C (p.Met708Ile) c.2283G>C (p.Met761Ile) c.1886G>C c.1465G>C c.602G>C (p.Cys201Ser) c.1980G>C (p.Met660Ile) | |
X | g.53985182C>T | CA413253204 | PHF8 | c.1872G>A (p.Met624Ile) c.2175G>A (p.Met725Ile) c.*630G>A (n.*630G>A) c.*1617G>A (n.*1617G>A) n.1539G>A c.2124G>A (p.Met708Ile) c.2283G>A (p.Met761Ile) c.1886G>A c.1465G>A c.602G>A (p.Cys201Tyr) c.1980G>A (p.Met660Ile) | gnomAD v4 |
X | g.53985183A>C | CA413253208 | PHF8 | c.1871T>G (p.Met624Arg) c.2174T>G (p.Met725Arg) c.*629T>G (n.*629T>G) c.*1616T>G (n.*1616T>G) n.1538T>G c.2123T>G (p.Met708Arg) c.2282T>G (p.Met761Arg) c.1885T>G c.1464T>G c.601T>G (p.Cys201Gly) c.1979T>G (p.Met660Arg) | |
X | g.53985183A>G | CA413253210 | PHF8 | c.1871T>C (p.Met624Thr) c.2174T>C (p.Met725Thr) c.*629T>C (n.*629T>C) c.*1616T>C (n.*1616T>C) n.1538T>C c.2123T>C (p.Met708Thr) c.2282T>C (p.Met761Thr) c.1885T>C c.1464T>C c.601T>C (p.Cys201Arg) c.1979T>C (p.Met660Thr) | |
X | g.53985183A>T | CA413253207 | PHF8 | c.1871T>A (p.Met624Lys) c.2174T>A (p.Met725Lys) c.*629T>A (n.*629T>A) c.*1616T>A (n.*1616T>A) n.1538T>A c.2123T>A (p.Met708Lys) c.2282T>A (p.Met761Lys) c.1885T>A c.1464T>A c.601T>A (p.Cys201Ser) c.1979T>A (p.Met660Lys) | |
X | g.53985184T>A | CA413253213 | PHF8 | c.1870A>T (p.Met624Leu) c.2173A>T (p.Met725Leu) c.*628A>T (n.*628A>T) c.*1615A>T (n.*1615A>T) n.1537A>T c.2122A>T (p.Met708Leu) c.2281A>T (p.Met761Leu) c.1884A>T c.1463A>T c.600A>T (p.Ala200=) c.1978A>T (p.Met660Leu) | |
X | g.53985184T>C | CA413253214 | PHF8 | c.1870A>G (p.Met624Val) c.2173A>G (p.Met725Val) c.*628A>G (n.*628A>G) c.*1615A>G (n.*1615A>G) n.1537A>G c.2122A>G (p.Met708Val) c.2281A>G (p.Met761Val) c.1884A>G c.1463A>G c.600A>G (p.Ala200=) c.1978A>G (p.Met660Val) | |
X | g.53985184T>G | CA413253215 | PHF8 | c.1870A>C (p.Met624Leu) c.2173A>C (p.Met725Leu) c.*628A>C (n.*628A>C) c.*1615A>C (n.*1615A>C) n.1537A>C c.2122A>C (p.Met708Leu) c.2281A>C (p.Met761Leu) c.1884A>C c.1463A>C c.600A>C (p.Ala200=) c.1978A>C (p.Met660Leu) | |
X | g.53985185G>A | CA413253217 | PHF8 | c.1869C>T (p.Gly623=) c.2172C>T (p.Gly724=) c.*627C>T (n.*627C>T) c.*1614C>T (n.*1614C>T) n.1536C>T c.2121C>T (p.Gly707=) c.2280C>T (p.Gly760=) c.1883C>T c.1462C>T c.599C>T (p.Ala200Val) c.1977C>T (p.Gly659=) | |
X | g.53985185G>C | CA413253218 | PHF8 | c.1869C>G (p.Gly623=) c.2172C>G (p.Gly724=) c.*627C>G (n.*627C>G) c.*1614C>G (n.*1614C>G) n.1536C>G c.2121C>G (p.Gly707=) c.2280C>G (p.Gly760=) c.1883C>G c.1462C>G c.599C>G (p.Ala200Gly) c.1977C>G (p.Gly659=) | |
X | g.53985185G>T | CA413253220 | PHF8 | c.1869C>A (p.Gly623=) c.2172C>A (p.Gly724=) c.*627C>A (n.*627C>A) c.*1614C>A (n.*1614C>A) n.1536C>A c.2121C>A (p.Gly707=) c.2280C>A (p.Gly760=) c.1883C>A c.1462C>A c.599C>A (p.Ala200Glu) c.1977C>A (p.Gly659=) | gnomAD v4 |
X | g.53985186C>A | CA413253223 | PHF8 | c.1868G>T (p.Gly623Val) c.2171G>T (p.Gly724Val) c.*626G>T (n.*626G>T) c.*1613G>T (n.*1613G>T) n.1535G>T c.2120G>T (p.Gly707Val) c.2279G>T (p.Gly760Val) c.1882G>T c.1461G>T c.598G>T (p.Ala200Ser) c.1976G>T (p.Gly659Val) | |
X | g.53985186C>G | CA413253225 | PHF8 | c.1868G>C (p.Gly623Ala) c.2171G>C (p.Gly724Ala) c.*626G>C (n.*626G>C) c.*1613G>C (n.*1613G>C) n.1535G>C c.2120G>C (p.Gly707Ala) c.2279G>C (p.Gly760Ala) c.1882G>C c.1461G>C c.598G>C (p.Ala200Pro) c.1976G>C (p.Gly659Ala) | |
X | g.53985186C>T | CA413253227 | PHF8 | c.1868G>A (p.Gly623Asp) c.2171G>A (p.Gly724Asp) c.*626G>A (n.*626G>A) c.*1613G>A (n.*1613G>A) n.1535G>A c.2120G>A (p.Gly707Asp) c.2279G>A (p.Gly760Asp) c.1882G>A c.1461G>A c.598G>A (p.Ala200Thr) c.1976G>A (p.Gly659Asp) | gnomAD v4 |
X | g.53985187C>A | CA413253230 | PHF8 | c.1867G>T (p.Gly623Cys) c.2170G>T (p.Gly724Cys) c.*625G>T (n.*625G>T) c.*1612G>T (n.*1612G>T) n.1534G>T c.2119G>T (p.Gly707Cys) c.2278G>T (p.Gly760Cys) c.1881G>T c.1460G>T c.597G>T (p.Arg199Ser) c.1975G>T (p.Gly659Cys) | |
X | g.53985187C>G | CA413253232 | PHF8 | c.1867G>C (p.Gly623Arg) c.2170G>C (p.Gly724Arg) c.*625G>C (n.*625G>C) c.*1612G>C (n.*1612G>C) n.1534G>C c.2119G>C (p.Gly707Arg) c.2278G>C (p.Gly760Arg) c.1881G>C c.1460G>C c.597G>C (p.Arg199Ser) c.1975G>C (p.Gly659Arg) | |
X | g.53985187C>T | CA413253234 | PHF8 | c.1867G>A (p.Gly623Ser) c.2170G>A (p.Gly724Ser) c.*625G>A (n.*625G>A) c.*1612G>A (n.*1612G>A) n.1534G>A c.2119G>A (p.Gly707Ser) c.2278G>A (p.Gly760Ser) c.1881G>A c.1460G>A c.597G>A (p.Arg199=) c.1975G>A (p.Gly659Ser) | gnomAD v4 |
X | g.53985188C>A | CA413253241 | PHF8 | c.1866G>T (p.Gln622His) c.2169G>T (p.Gln723His) c.*624G>T (n.*624G>T) c.*1611G>T (n.*1611G>T) n.1533G>T c.2118G>T (p.Gln706His) c.2277G>T (p.Gln759His) c.1880G>T c.1459G>T c.596G>T (p.Arg199Met) c.1974G>T (p.Gln658His) | gnomAD v4 |
X | g.53985188C>G | CA413253239 | PHF8 | c.1866G>C (p.Gln622His) c.2169G>C (p.Gln723His) c.*624G>C (n.*624G>C) c.*1611G>C (n.*1611G>C) n.1533G>C c.2118G>C (p.Gln706His) c.2277G>C (p.Gln759His) c.1880G>C c.1459G>C c.596G>C (p.Arg199Thr) c.1974G>C (p.Gln658His) | |
X | g.53985188C>T | CA413253236 | PHF8 | c.1866G>A (p.Gln622=) c.2169G>A (p.Gln723=) c.*624G>A (n.*624G>A) c.*1611G>A (n.*1611G>A) n.1533G>A c.2118G>A (p.Gln706=) c.2277G>A (p.Gln759=) c.1880G>A c.1459G>A c.596G>A (p.Arg199Lys) c.1974G>A (p.Gln658=) | gnomAD v4 |
X | g.53985189T>A | CA413253244 | PHF8 | c.1865A>T (p.Gln622Leu) c.2168A>T (p.Gln723Leu) c.*623A>T (n.*623A>T) c.*1610A>T (n.*1610A>T) n.1532A>T c.2117A>T (p.Gln706Leu) c.2276A>T (p.Gln759Leu) c.1879A>T c.1458A>T c.595A>T (p.Arg199Trp) c.1973A>T (p.Gln658Leu) | |
X | g.53985189T>C | CA413253246 | PHF8 | c.1865A>G (p.Gln622Arg) c.2168A>G (p.Gln723Arg) c.*623A>G (n.*623A>G) c.*1610A>G (n.*1610A>G) n.1532A>G c.2117A>G (p.Gln706Arg) c.2276A>G (p.Gln759Arg) c.1879A>G c.1458A>G c.595A>G (p.Arg199Gly) c.1973A>G (p.Gln658Arg) | |
X | g.53985189T>G | CA413253248 | PHF8 | c.1865A>C (p.Gln622Pro) c.2168A>C (p.Gln723Pro) c.*623A>C (n.*623A>C) c.*1610A>C (n.*1610A>C) n.1532A>C c.2117A>C (p.Gln706Pro) c.2276A>C (p.Gln759Pro) c.1879A>C c.1458A>C c.595A>C (p.Arg199=) c.1973A>C (p.Gln658Pro) | |
X | g.53985190G>A | CA413253251 | PHF8 | c.1864C>T (p.Gln622Ter) c.2167C>T (p.Gln723Ter) c.*622C>T (n.*622C>T) c.*1609C>T (n.*1609C>T) n.1531C>T c.2116C>T (p.Gln706Ter) c.2275C>T (p.Gln759Ter) c.1878C>T c.1457C>T c.594C>T (p.Ser198=) c.1972C>T (p.Gln658Ter) | |
X | g.53985190G>C | CA413253253 | PHF8 | c.1864C>G (p.Gln622Glu) c.2167C>G (p.Gln723Glu) c.*622C>G (n.*622C>G) c.*1609C>G (n.*1609C>G) n.1531C>G c.2116C>G (p.Gln706Glu) c.2275C>G (p.Gln759Glu) c.1878C>G c.1457C>G c.594C>G (p.Ser198=) c.1972C>G (p.Gln658Glu) | gnomAD v4 |
X | g.53985190G>T | CA413253255 | PHF8 | c.1864C>A (p.Gln622Lys) c.2167C>A (p.Gln723Lys) c.*622C>A (n.*622C>A) c.*1609C>A (n.*1609C>A) n.1531C>A c.2116C>A (p.Gln706Lys) c.2275C>A (p.Gln759Lys) c.1878C>A c.1457C>A c.594C>A (p.Ser198=) c.1972C>A (p.Gln658Lys) | gnomAD v4 |
X | g.53985191G>A | CA413253259 | PHF8 | c.1863C>T (p.Ile621=) c.2166C>T (p.Ile722=) c.*621C>T (n.*621C>T) c.*1608C>T (n.*1608C>T) n.1530C>T c.2115C>T (p.Ile705=) c.2274C>T (p.Ile758=) c.1877C>T c.1456C>T c.593C>T (p.Ser198Phe) c.1971C>T (p.Ile657=) | |
X | g.53985191G>C | CA413253261 | PHF8 | c.1863C>G (p.Ile621Met) c.2166C>G (p.Ile722Met) c.*621C>G (n.*621C>G) c.*1608C>G (n.*1608C>G) n.1530C>G c.2115C>G (p.Ile705Met) c.2274C>G (p.Ile758Met) c.1877C>G c.1456C>G c.593C>G (p.Ser198Cys) c.1971C>G (p.Ile657Met) | |
X | g.53985191G>T | CA413253263 | PHF8 | c.1863C>A (p.Ile621=) c.2166C>A (p.Ile722=) c.*621C>A (n.*621C>A) c.*1608C>A (n.*1608C>A) n.1530C>A c.2115C>A (p.Ile705=) c.2274C>A (p.Ile758=) c.1877C>A c.1456C>A c.593C>A (p.Ser198Tyr) c.1971C>A (p.Ile657=) | gnomAD v4 |
X | g.53985192A>C | CA413253266 | PHF8 | c.1862T>G (p.Ile621Ser) c.2165T>G (p.Ile722Ser) c.*620T>G (n.*620T>G) c.*1607T>G (n.*1607T>G) n.1529T>G c.2114T>G (p.Ile705Ser) c.2273T>G (p.Ile758Ser) c.1876T>G c.1455T>G c.592T>G (p.Ser198Ala) c.1970T>G (p.Ile657Ser) | |
X | g.53985192A>G | CA413253267 | PHF8 | c.1862T>C (p.Ile621Thr) c.2165T>C (p.Ile722Thr) c.*620T>C (n.*620T>C) c.*1607T>C (n.*1607T>C) n.1529T>C c.2114T>C (p.Ile705Thr) c.2273T>C (p.Ile758Thr) c.1876T>C c.1455T>C c.592T>C (p.Ser198Pro) c.1970T>C (p.Ile657Thr) | |
X | g.53985192A>T | CA413253269 | PHF8 | c.1862T>A (p.Ile621Asn) c.2165T>A (p.Ile722Asn) c.*620T>A (n.*620T>A) c.*1607T>A (n.*1607T>A) n.1529T>A c.2114T>A (p.Ile705Asn) c.2273T>A (p.Ile758Asn) c.1876T>A c.1455T>A c.592T>A (p.Ser198Thr) c.1970T>A (p.Ile657Asn) | |
X | g.53985193T>A | CA413253277 | PHF8 | c.1861A>T (p.Ile621Phe) c.2164A>T (p.Ile722Phe) c.*619A>T (n.*619A>T) c.*1606A>T (n.*1606A>T) n.1528A>T c.2113A>T (p.Ile705Phe) c.2272A>T (p.Ile758Phe) c.1875A>T c.1454A>T c.591A>T (p.Pro197=) c.1969A>T (p.Ile657Phe) | |
X | g.53985193T>C | CA413253275 | PHF8 | c.1861A>G (p.Ile621Val) c.2164A>G (p.Ile722Val) c.*619A>G (n.*619A>G) c.*1606A>G (n.*1606A>G) n.1528A>G c.2113A>G (p.Ile705Val) c.2272A>G (p.Ile758Val) c.1875A>G c.1454A>G c.591A>G (p.Pro197=) c.1969A>G (p.Ile657Val) | |
X | g.53985193T>G | CA413253272 | PHF8 | c.1861A>C (p.Ile621Leu) c.2164A>C (p.Ile722Leu) c.*619A>C (n.*619A>C) c.*1606A>C (n.*1606A>C) n.1528A>C c.2113A>C (p.Ile705Leu) c.2272A>C (p.Ile758Leu) c.1875A>C c.1454A>C c.591A>C (p.Pro197=) c.1969A>C (p.Ile657Leu) | |
X | g.53985194G>A | CA10423326 | PHF8 | c.1860C>T (p.Ala620=) c.2163C>T (p.Ala721=) c.*618C>T (n.*618C>T) c.*1605C>T (n.*1605C>T) n.1527C>T c.2112C>T (p.Ala704=) c.2271C>T (p.Ala757=) c.1874C>T c.1453C>T c.590C>T (p.Pro197Leu) c.1968C>T (p.Ala656=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53985194G>C | CA413253283 | PHF8 | c.1860C>G (p.Ala620=) c.2163C>G (p.Ala721=) c.*618C>G (n.*618C>G) c.*1605C>G (n.*1605C>G) n.1527C>G c.2112C>G (p.Ala704=) c.2271C>G (p.Ala757=) c.1874C>G c.1453C>G c.590C>G (p.Pro197Arg) c.1968C>G (p.Ala656=) | |
X | g.53985194G= | CA2430030715 | PHF8 | c.1860C= (p.Ala620=) c.2163C= (p.Ala721=) c.*618C= (n.*618C=) c.*1605C= (n.*1605C=) n.1527C= c.2112C= (p.Ala704=) c.2271C= (p.Ala757=) c.1874C= c.1453C= c.590C= (p.Pro197=) c.1968C= (p.Ala656=) | |
X | g.53985194G>T | CA413253280 | PHF8 | c.1860C>A (p.Ala620=) c.2163C>A (p.Ala721=) c.*618C>A (n.*618C>A) c.*1605C>A (n.*1605C>A) n.1527C>A c.2112C>A (p.Ala704=) c.2271C>A (p.Ala757=) c.1874C>A c.1453C>A c.590C>A (p.Pro197Gln) c.1968C>A (p.Ala656=) | |
X | g.53985195G>A | CA413253286 | PHF8 | c.1859C>T (p.Ala620Val) c.2162C>T (p.Ala721Val) c.*617C>T (n.*617C>T) c.*1604C>T (n.*1604C>T) n.1526C>T c.2111C>T (p.Ala704Val) c.2270C>T (p.Ala757Val) c.1873C>T c.1452C>T c.589C>T (p.Pro197Ser) c.1967C>T (p.Ala656Val) | |
X | g.53985195G>C | CA413253290 | PHF8 | c.1859C>G (p.Ala620Gly) c.2162C>G (p.Ala721Gly) c.*617C>G (n.*617C>G) c.*1604C>G (n.*1604C>G) n.1526C>G c.2111C>G (p.Ala704Gly) c.2270C>G (p.Ala757Gly) c.1873C>G c.1452C>G c.589C>G (p.Pro197Ala) c.1967C>G (p.Ala656Gly) | |
X | g.53985195G>T | CA413253288 | PHF8 | c.1859C>A (p.Ala620Asp) c.2162C>A (p.Ala721Asp) c.*617C>A (n.*617C>A) c.*1604C>A (n.*1604C>A) n.1526C>A c.2111C>A (p.Ala704Asp) c.2270C>A (p.Ala757Asp) c.1873C>A c.1452C>A c.589C>A (p.Pro197Thr) c.1967C>A (p.Ala656Asp) | gnomAD v4 |
X | g.53985196C>A | CA413253293 | PHF8 | c.1858G>T (p.Ala620Ser) c.2161G>T (p.Ala721Ser) c.*616G>T (n.*616G>T) c.*1603G>T (n.*1603G>T) n.1525G>T c.2110G>T (p.Ala704Ser) c.2269G>T (p.Ala757Ser) c.1872G>T c.1451G>T c.588G>T (p.Arg196Ser) c.1966G>T (p.Ala656Ser) | |
X | g.53985196C>G | CA413253296 | PHF8 | c.1858G>C (p.Ala620Pro) c.2161G>C (p.Ala721Pro) c.*616G>C (n.*616G>C) c.*1603G>C (n.*1603G>C) n.1525G>C c.2110G>C (p.Ala704Pro) c.2269G>C (p.Ala757Pro) c.1872G>C c.1451G>C c.588G>C (p.Arg196Ser) c.1966G>C (p.Ala656Pro) | |
X | g.53985196C>T | CA413253298 | PHF8 | c.1858G>A (p.Ala620Thr) c.2161G>A (p.Ala721Thr) c.*616G>A (n.*616G>A) c.*1603G>A (n.*1603G>A) n.1525G>A c.2110G>A (p.Ala704Thr) c.2269G>A (p.Ala757Thr) c.1872G>A c.1451G>A c.588G>A (p.Arg196=) c.1966G>A (p.Ala656Thr) | gnomAD v4 |
X | g.53985197C>A | CA413253301 | PHF8 | c.1857G>T (p.Glu619Asp) c.2160G>T (p.Glu720Asp) c.*615G>T (n.*615G>T) c.*1602G>T (n.*1602G>T) n.1524G>T c.2109G>T (p.Glu703Asp) c.2268G>T (p.Glu756Asp) c.1871G>T c.1450G>T c.587G>T (p.Arg196Met) c.1965G>T (p.Glu655Asp) | |
X | g.53985197C= | CA2430030716 | PHF8 | c.1857G= (p.Glu619=) c.2160G= (p.Glu720=) c.*615G= (n.*615G=) c.*1602G= (n.*1602G=) n.1524G= c.2109G= (p.Glu703=) c.2268G= (p.Glu756=) c.1871G= c.1450G= c.587G= (p.Arg196=) c.1965G= (p.Glu655=) | |
X | g.53985197C>G | CA413253303 | PHF8 | c.1857G>C (p.Glu619Asp) c.2160G>C (p.Glu720Asp) c.*615G>C (n.*615G>C) c.*1602G>C (n.*1602G>C) n.1524G>C c.2109G>C (p.Glu703Asp) c.2268G>C (p.Glu756Asp) c.1871G>C c.1450G>C c.587G>C (p.Arg196Thr) c.1965G>C (p.Glu655Asp) | |
X | g.53985197C>T | CA10423327 | PHF8 | c.1857G>A (p.Glu619=) c.2160G>A (p.Glu720=) c.*615G>A (n.*615G>A) c.*1602G>A (n.*1602G>A) n.1524G>A c.2109G>A (p.Glu703=) c.2268G>A (p.Glu756=) c.1871G>A c.1450G>A c.587G>A (p.Arg196Lys) c.1965G>A (p.Glu655=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53985198T>A | CA413253313 | PHF8 | c.1856A>T (p.Glu619Val) c.2159A>T (p.Glu720Val) c.*614A>T (n.*614A>T) c.*1601A>T (n.*1601A>T) n.1523A>T c.2108A>T (p.Glu703Val) c.2267A>T (p.Glu756Val) c.1870A>T c.1449A>T c.586A>T (p.Arg196Trp) c.1964A>T (p.Glu655Val) | |
X | g.53985198T>C | CA413253310 | PHF8 | c.1856A>G (p.Glu619Gly) c.2159A>G (p.Glu720Gly) c.*614A>G (n.*614A>G) c.*1601A>G (n.*1601A>G) n.1523A>G c.2108A>G (p.Glu703Gly) c.2267A>G (p.Glu756Gly) c.1870A>G c.1449A>G c.586A>G (p.Arg196Gly) c.1964A>G (p.Glu655Gly) | gnomAD v4 |
X | g.53985198T>G | CA413253308 | PHF8 | c.1856A>C (p.Glu619Ala) c.2159A>C (p.Glu720Ala) c.*614A>C (n.*614A>C) c.*1601A>C (n.*1601A>C) n.1523A>C c.2108A>C (p.Glu703Ala) c.2267A>C (p.Glu756Ala) c.1870A>C c.1449A>C c.586A>C (p.Arg196=) c.1964A>C (p.Glu655Ala) | |
X | g.53985199C>A | CA413253316 | PHF8 | c.1855G>T (p.Glu619Ter) c.2158G>T (p.Glu720Ter) c.*613G>T (n.*613G>T) c.*1600G>T (n.*1600G>T) n.1522G>T c.2107G>T (p.Glu703Ter) c.2266G>T (p.Glu756Ter) c.1869G>T c.1448G>T c.585G>T (p.Arg195Ser) c.1963G>T (p.Glu655Ter) | |
X | g.53985199C>G | CA413253318 | PHF8 | c.1855G>C (p.Glu619Gln) c.2158G>C (p.Glu720Gln) c.*613G>C (n.*613G>C) c.*1600G>C (n.*1600G>C) n.1522G>C c.2107G>C (p.Glu703Gln) c.2266G>C (p.Glu756Gln) c.1869G>C c.1448G>C c.585G>C (p.Arg195Ser) c.1963G>C (p.Glu655Gln) | |
X | g.53985199C>T | CA413253320 | PHF8 | c.1855G>A (p.Glu619Lys) c.2158G>A (p.Glu720Lys) c.*613G>A (n.*613G>A) c.*1600G>A (n.*1600G>A) n.1522G>A c.2107G>A (p.Glu703Lys) c.2266G>A (p.Glu756Lys) c.1869G>A c.1448G>A c.585G>A (p.Arg195=) c.1963G>A (p.Glu655Lys) | |
X | g.53985200C>A | CA413253323 | PHF8 | c.1854G>T (p.Gln618His) c.2157G>T (p.Gln719His) c.*612G>T (n.*612G>T) c.*1599G>T (n.*1599G>T) n.1521G>T c.2106G>T (p.Gln702His) c.2265G>T (p.Gln755His) c.1868G>T c.1447G>T c.584G>T (p.Arg195Met) c.1962G>T (p.Gln654His) | |
X | g.53985200C= | CA2430030717 | PHF8 | c.1854G= (p.Gln618=) c.2157G= (p.Gln719=) c.*612G= (n.*612G=) c.*1599G= (n.*1599G=) n.1521G= c.2106G= (p.Gln702=) c.2265G= (p.Gln755=) c.1868G= c.1447G= c.584G= (p.Arg195=) c.1962G= (p.Gln654=) | |
X | g.53985200C>G | CA413253325 | PHF8 | c.1854G>C (p.Gln618His) c.2157G>C (p.Gln719His) c.*612G>C (n.*612G>C) c.*1599G>C (n.*1599G>C) n.1521G>C c.2106G>C (p.Gln702His) c.2265G>C (p.Gln755His) c.1868G>C c.1447G>C c.584G>C (p.Arg195Thr) c.1962G>C (p.Gln654His) | |
X | g.53985200C>T | CA413253327 | PHF8 | c.1854G>A (p.Gln618=) c.2157G>A (p.Gln719=) c.*612G>A (n.*612G>A) c.*1599G>A (n.*1599G>A) n.1521G>A c.2106G>A (p.Gln702=) c.2265G>A (p.Gln755=) c.1868G>A c.1447G>A c.584G>A (p.Arg195Lys) c.1962G>A (p.Gln654=) | dbSNP gnomAD v2 |
X | g.53985201T>A | CA413253331 | PHF8 | c.1853A>T (p.Gln618Leu) c.2156A>T (p.Gln719Leu) c.*611A>T (n.*611A>T) c.*1598A>T (n.*1598A>T) n.1520A>T c.2105A>T (p.Gln702Leu) c.2264A>T (p.Gln755Leu) c.1867A>T c.1446A>T c.583A>T (p.Arg195Trp) c.1961A>T (p.Gln654Leu) | |
X | g.53985201T>C | CA413253335 | PHF8 | c.1853A>G (p.Gln618Arg) c.2156A>G (p.Gln719Arg) c.*611A>G (n.*611A>G) c.*1598A>G (n.*1598A>G) n.1520A>G c.2105A>G (p.Gln702Arg) c.2264A>G (p.Gln755Arg) c.1867A>G c.1446A>G c.583A>G (p.Arg195Gly) c.1961A>G (p.Gln654Arg) | |
X | g.53985201T>G | CA413253333 | PHF8 | c.1853A>C (p.Gln618Pro) c.2156A>C (p.Gln719Pro) c.*611A>C (n.*611A>C) c.*1598A>C (n.*1598A>C) n.1520A>C c.2105A>C (p.Gln702Pro) c.2264A>C (p.Gln755Pro) c.1867A>C c.1446A>C c.583A>C (p.Arg195=) c.1961A>C (p.Gln654Pro) | ClinVar |
X | g.53985202G>A | CA413253338 | PHF8 | c.1852C>T (p.Gln618Ter) c.2155C>T (p.Gln719Ter) c.*610C>T (n.*610C>T) c.*1597C>T (n.*1597C>T) n.1519C>T c.2104C>T (p.Gln702Ter) c.2263C>T (p.Gln755Ter) c.1866C>T c.1445C>T c.582C>T (p.Leu194=) c.1960C>T (p.Gln654Ter) | |
X | g.53985202G>C | CA413253340 | PHF8 | c.1852C>G (p.Gln618Glu) c.2155C>G (p.Gln719Glu) c.*610C>G (n.*610C>G) c.*1597C>G (n.*1597C>G) n.1519C>G c.2104C>G (p.Gln702Glu) c.2263C>G (p.Gln755Glu) c.1866C>G c.1445C>G c.582C>G (p.Leu194=) c.1960C>G (p.Gln654Glu) | |
X | g.53985202G>T | CA413253342 | PHF8 | c.1852C>A (p.Gln618Lys) c.2155C>A (p.Gln719Lys) c.*610C>A (n.*610C>A) c.*1597C>A (n.*1597C>A) n.1519C>A c.2104C>A (p.Gln702Lys) c.2263C>A (p.Gln755Lys) c.1866C>A c.1445C>A c.582C>A (p.Leu194=) c.1960C>A (p.Gln654Lys) | gnomAD v4 |
X | g.53985203A>C | CA413253346 | PHF8 | c.1851T>G (p.Thr617=) c.2154T>G (p.Thr718=) c.*609T>G (n.*609T>G) c.*1596T>G (n.*1596T>G) n.1518T>G c.2103T>G (p.Thr701=) c.2262T>G (p.Thr754=) c.1865T>G c.1444T>G c.581T>G (p.Leu194Arg) c.1959T>G (p.Thr653=) | gnomAD v4 |
X | g.53985203A>G | CA413253349 | PHF8 | c.1851T>C (p.Thr617=) c.2154T>C (p.Thr718=) c.*609T>C (n.*609T>C) c.*1596T>C (n.*1596T>C) n.1518T>C c.2103T>C (p.Thr701=) c.2262T>C (p.Thr754=) c.1865T>C c.1444T>C c.581T>C (p.Leu194Pro) c.1959T>C (p.Thr653=) | |
X | g.53985203A>T | CA413253351 | PHF8 | c.1851T>A (p.Thr617=) c.2154T>A (p.Thr718=) c.*609T>A (n.*609T>A) c.*1596T>A (n.*1596T>A) n.1518T>A c.2103T>A (p.Thr701=) c.2262T>A (p.Thr754=) c.1865T>A c.1444T>A c.581T>A (p.Leu194His) c.1959T>A (p.Thr653=) | |
X | g.53985204G>A | CA413253354 | PHF8 | c.1850C>T (p.Thr617Ile) c.2153C>T (p.Thr718Ile) c.*608C>T (n.*608C>T) c.*1595C>T (n.*1595C>T) n.1517C>T c.2102C>T (p.Thr701Ile) c.2261C>T (p.Thr754Ile) c.1864C>T c.1443C>T c.580C>T (p.Leu194Phe) c.1958C>T (p.Thr653Ile) | |
X | g.53985204G>C | CA413253356 | PHF8 | c.1850C>G (p.Thr617Ser) c.2153C>G (p.Thr718Ser) c.*608C>G (n.*608C>G) c.*1595C>G (n.*1595C>G) n.1517C>G c.2102C>G (p.Thr701Ser) c.2261C>G (p.Thr754Ser) c.1864C>G c.1443C>G c.580C>G (p.Leu194Val) c.1958C>G (p.Thr653Ser) | |
X | g.53985204G>T | CA413253358 | PHF8 | c.1850C>A (p.Thr617Asn) c.2153C>A (p.Thr718Asn) c.*608C>A (n.*608C>A) c.*1595C>A (n.*1595C>A) n.1517C>A c.2102C>A (p.Thr701Asn) c.2261C>A (p.Thr754Asn) c.1864C>A c.1443C>A c.580C>A (p.Leu194Ile) c.1958C>A (p.Thr653Asn) | gnomAD v4 |
X | g.53985205T>A | CA413253361 | PHF8 | c.1849A>T (p.Thr617Ser) c.2152A>T (p.Thr718Ser) c.*607A>T (n.*607A>T) c.*1594A>T (n.*1594A>T) n.1516A>T c.2101A>T (p.Thr701Ser) c.2260A>T (p.Thr754Ser) c.1863A>T c.1442A>T c.579A>T (p.Ala193=) c.1957A>T (p.Thr653Ser) | |
X | g.53985205T>C | CA413253363 | PHF8 | c.1849A>G (p.Thr617Ala) c.2152A>G (p.Thr718Ala) c.*607A>G (n.*607A>G) c.*1594A>G (n.*1594A>G) n.1516A>G c.2101A>G (p.Thr701Ala) c.2260A>G (p.Thr754Ala) c.1863A>G c.1442A>G c.579A>G (p.Ala193=) c.1957A>G (p.Thr653Ala) | |
X | g.53985205T>G | CA413253365 | PHF8 | c.1849A>C (p.Thr617Pro) c.2152A>C (p.Thr718Pro) c.*607A>C (n.*607A>C) c.*1594A>C (n.*1594A>C) n.1516A>C c.2101A>C (p.Thr701Pro) c.2260A>C (p.Thr754Pro) c.1863A>C c.1442A>C c.579A>C (p.Ala193=) c.1957A>C (p.Thr653Pro) | |
X | g.53985206G>A | CA413253368 | PHF8 | c.1848C>T (p.Ser616=) c.2151C>T (p.Ser717=) c.*606C>T (n.*606C>T) c.*1593C>T (n.*1593C>T) n.1515C>T c.2100C>T (p.Ser700=) c.2259C>T (p.Ser753=) c.1862C>T c.1441C>T c.578C>T (p.Ala193Val) c.1956C>T (p.Ser652=) | |
X | g.53985206G>C | CA413253371 | PHF8 | c.1848C>G (p.Ser616Arg) c.2151C>G (p.Ser717Arg) c.*606C>G (n.*606C>G) c.*1593C>G (n.*1593C>G) n.1515C>G c.2100C>G (p.Ser700Arg) c.2259C>G (p.Ser753Arg) c.1862C>G c.1441C>G c.578C>G (p.Ala193Gly) c.1956C>G (p.Ser652Arg) | |
X | g.53985206G>T | CA413253369 | PHF8 | c.1848C>A (p.Ser616Arg) c.2151C>A (p.Ser717Arg) c.*606C>A (n.*606C>A) c.*1593C>A (n.*1593C>A) n.1515C>A c.2100C>A (p.Ser700Arg) c.2259C>A (p.Ser753Arg) c.1862C>A c.1441C>A c.578C>A (p.Ala193Glu) c.1956C>A (p.Ser652Arg) | |
X | g.53985207C>A | CA413253374 | PHF8 | c.1847G>T (p.Ser616Ile) c.2150G>T (p.Ser717Ile) c.*605G>T (n.*605G>T) c.*1592G>T (n.*1592G>T) n.1514G>T c.2099G>T (p.Ser700Ile) c.2258G>T (p.Ser753Ile) c.1861G>T c.1440G>T c.577G>T (p.Ala193Ser) c.1955G>T (p.Ser652Ile) | gnomAD v4 |
X | g.53985207C>G | CA413253375 | PHF8 | c.1847G>C (p.Ser616Thr) c.2150G>C (p.Ser717Thr) c.*605G>C (n.*605G>C) c.*1592G>C (n.*1592G>C) n.1514G>C c.2099G>C (p.Ser700Thr) c.2258G>C (p.Ser753Thr) c.1861G>C c.1440G>C c.577G>C (p.Ala193Pro) c.1955G>C (p.Ser652Thr) | gnomAD v4 |
X | g.53985207C>T | CA413253376 | PHF8 | c.1847G>A (p.Ser616Asn) c.2150G>A (p.Ser717Asn) c.*605G>A (n.*605G>A) c.*1592G>A (n.*1592G>A) n.1514G>A c.2099G>A (p.Ser700Asn) c.2258G>A (p.Ser753Asn) c.1861G>A c.1440G>A c.577G>A (p.Ala193Thr) c.1955G>A (p.Ser652Asn) | gnomAD v4 |
X | g.53985208T>A | CA413253377 | PHF8 | c.1846A>T (p.Ser616Cys) c.2149A>T (p.Ser717Cys) c.*604A>T (n.*604A>T) c.*1591A>T (n.*1591A>T) n.1513A>T c.2098A>T (p.Ser700Cys) c.2257A>T (p.Ser753Cys) c.1860A>T c.1439A>T c.576A>T (p.Pro192=) c.1954A>T (p.Ser652Cys) | |
X | g.53985208T>C | CA413253378 | PHF8 | c.1846A>G (p.Ser616Gly) c.2149A>G (p.Ser717Gly) c.*604A>G (n.*604A>G) c.*1591A>G (n.*1591A>G) n.1513A>G c.2098A>G (p.Ser700Gly) c.2257A>G (p.Ser753Gly) c.1860A>G c.1439A>G c.576A>G (p.Pro192=) c.1954A>G (p.Ser652Gly) | |
X | g.53985208T>G | CA413253379 | PHF8 | c.1846A>C (p.Ser616Arg) c.2149A>C (p.Ser717Arg) c.*604A>C (n.*604A>C) c.*1591A>C (n.*1591A>C) n.1513A>C c.2098A>C (p.Ser700Arg) c.2257A>C (p.Ser753Arg) c.1860A>C c.1439A>C c.576A>C (p.Pro192=) c.1954A>C (p.Ser652Arg) | |
X | g.53985209G>A | CA413253380 | PHF8 | c.1845C>T (p.Pro615=) c.2148C>T (p.Pro716=) c.*603C>T (n.*603C>T) c.*1590C>T (n.*1590C>T) n.1512C>T c.2097C>T (p.Pro699=) c.2256C>T (p.Pro752=) c.1859C>T c.1438C>T c.575C>T (p.Pro192Leu) c.1953C>T (p.Pro651=) | gnomAD v4 |
X | g.53985209G>C | CA413253381 | PHF8 | c.1845C>G (p.Pro615=) c.2148C>G (p.Pro716=) c.*603C>G (n.*603C>G) c.*1590C>G (n.*1590C>G) n.1512C>G c.2097C>G (p.Pro699=) c.2256C>G (p.Pro752=) c.1859C>G c.1438C>G c.575C>G (p.Pro192Arg) c.1953C>G (p.Pro651=) | |
X | g.53985209G>T | CA413253382 | PHF8 | c.1845C>A (p.Pro615=) c.2148C>A (p.Pro716=) c.*603C>A (n.*603C>A) c.*1590C>A (n.*1590C>A) n.1512C>A c.2097C>A (p.Pro699=) c.2256C>A (p.Pro752=) c.1859C>A c.1438C>A c.575C>A (p.Pro192Gln) c.1953C>A (p.Pro651=) | gnomAD v4 |
X | g.53985210G>A | CA413253383 | PHF8 | c.1844C>T (p.Pro615Leu) c.2147C>T (p.Pro716Leu) c.*602C>T (n.*602C>T) c.*1589C>T (n.*1589C>T) n.1511C>T c.2096C>T (p.Pro699Leu) c.2255C>T (p.Pro752Leu) c.1858C>T c.1437C>T c.574C>T (p.Pro192Ser) c.1952C>T (p.Pro651Leu) | |
X | g.53985210G>C | CA413253385 | PHF8 | c.1844C>G (p.Pro615Arg) c.2147C>G (p.Pro716Arg) c.*602C>G (n.*602C>G) c.*1589C>G (n.*1589C>G) n.1511C>G c.2096C>G (p.Pro699Arg) c.2255C>G (p.Pro752Arg) c.1858C>G c.1437C>G c.574C>G (p.Pro192Ala) c.1952C>G (p.Pro651Arg) | |
X | g.53985210G>T | CA413253387 | PHF8 | c.1844C>A (p.Pro615His) c.2147C>A (p.Pro716His) c.*602C>A (n.*602C>A) c.*1589C>A (n.*1589C>A) n.1511C>A c.2096C>A (p.Pro699His) c.2255C>A (p.Pro752His) c.1858C>A c.1437C>A c.574C>A (p.Pro192Thr) c.1952C>A (p.Pro651His) | |
X | g.53985211G>A | CA413253395 | PHF8 | c.1843C>T (p.Pro615Ser) c.2146C>T (p.Pro716Ser) c.*601C>T (n.*601C>T) c.*1588C>T (n.*1588C>T) n.1510C>T c.2095C>T (p.Pro699Ser) c.2254C>T (p.Pro752Ser) c.1857C>T c.1436C>T c.573C>T (p.Leu191=) c.1951C>T (p.Pro651Ser) | |
X | g.53985211G>C | CA413253392 | PHF8 | c.1843C>G (p.Pro615Ala) c.2146C>G (p.Pro716Ala) c.*601C>G (n.*601C>G) c.*1588C>G (n.*1588C>G) n.1510C>G c.2095C>G (p.Pro699Ala) c.2254C>G (p.Pro752Ala) c.1857C>G c.1436C>G c.573C>G (p.Leu191=) c.1951C>G (p.Pro651Ala) | |
X | g.53985211G>T | CA413253390 | PHF8 | c.1843C>A (p.Pro615Thr) c.2146C>A (p.Pro716Thr) c.*601C>A (n.*601C>A) c.*1588C>A (n.*1588C>A) n.1510C>A c.2095C>A (p.Pro699Thr) c.2254C>A (p.Pro752Thr) c.1857C>A c.1436C>A c.573C>A (p.Leu191=) c.1951C>A (p.Pro651Thr) | gnomAD v4 |
X | g.53985212A= | CA2430030718 | PHF8 | c.1842T= (p.Ser614=) c.2145T= (p.Ser715=) c.*600T= (n.*600T=) c.*1587T= (n.*1587T=) n.1509T= c.2094T= (p.Ser698=) c.2253T= (p.Ser751=) c.1856T= c.1435T= c.572T= (p.Leu191=) c.1950T= (p.Ser650=) | |
X | g.53985212A>C | CA413253397 | PHF8 | c.1842T>G (p.Ser614=) c.2145T>G (p.Ser715=) c.*600T>G (n.*600T>G) c.*1587T>G (n.*1587T>G) n.1509T>G c.2094T>G (p.Ser698=) c.2253T>G (p.Ser751=) c.1856T>G c.1435T>G c.572T>G (p.Leu191Arg) c.1950T>G (p.Ser650=) | |
X | g.53985212A>G | CA329924356 | PHF8 | c.1842T>C (p.Ser614=) c.2145T>C (p.Ser715=) c.*600T>C (n.*600T>C) c.*1587T>C (n.*1587T>C) n.1509T>C c.2094T>C (p.Ser698=) c.2253T>C (p.Ser751=) c.1856T>C c.1435T>C c.572T>C (p.Leu191Pro) c.1950T>C (p.Ser650=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53985212A>T | CA413253401 | PHF8 | c.1842T>A (p.Ser614=) c.2145T>A (p.Ser715=) c.*600T>A (n.*600T>A) c.*1587T>A (n.*1587T>A) n.1509T>A c.2094T>A (p.Ser698=) c.2253T>A (p.Ser751=) c.1856T>A c.1435T>A c.572T>A (p.Leu191His) c.1950T>A (p.Ser650=) | |
X | g.53985213G>A | CA413253405 | PHF8 | c.1841C>T (p.Ser614Phe) c.2144C>T (p.Ser715Phe) c.*599C>T (n.*599C>T) c.*1586C>T (n.*1586C>T) n.1508C>T c.2093C>T (p.Ser698Phe) c.2252C>T (p.Ser751Phe) c.1855C>T c.1434C>T c.571C>T (p.Leu191Phe) c.1949C>T (p.Ser650Phe) | dbSNP gnomAD v4 |
X | g.53985213G>C | CA413253407 | PHF8 | c.1841C>G (p.Ser614Cys) c.2144C>G (p.Ser715Cys) c.*599C>G (n.*599C>G) c.*1586C>G (n.*1586C>G) n.1508C>G c.2093C>G (p.Ser698Cys) c.2252C>G (p.Ser751Cys) c.1855C>G c.1434C>G c.571C>G (p.Leu191Val) c.1949C>G (p.Ser650Cys) | |
X | g.53985213G= | CA2430030719 | PHF8 | c.1841C= (p.Ser614=) c.2144C= (p.Ser715=) c.*599C= (n.*599C=) c.*1586C= (n.*1586C=) n.1508C= c.2093C= (p.Ser698=) c.2252C= (p.Ser751=) c.1855C= c.1434C= c.571C= (p.Leu191=) c.1949C= (p.Ser650=) | |
X | g.53985213G>T | CA413253409 | PHF8 | c.1841C>A (p.Ser614Tyr) c.2144C>A (p.Ser715Tyr) c.*599C>A (n.*599C>A) c.*1586C>A (n.*1586C>A) n.1508C>A c.2093C>A (p.Ser698Tyr) c.2252C>A (p.Ser751Tyr) c.1855C>A c.1434C>A c.571C>A (p.Leu191Ile) c.1949C>A (p.Ser650Tyr) | |
X | g.53985214A>C | CA413253411 | PHF8 | c.1840T>G (p.Ser614Ala) c.2143T>G (p.Ser715Ala) c.*598T>G (n.*598T>G) c.*1585T>G (n.*1585T>G) n.1507T>G c.2092T>G (p.Ser698Ala) c.2251T>G (p.Ser751Ala) c.1854T>G c.1433T>G c.570T>G (p.Leu190=) c.1948T>G (p.Ser650Ala) | |
X | g.53985214A>G | CA413253414 | PHF8 | c.1840T>C (p.Ser614Pro) c.2143T>C (p.Ser715Pro) c.*598T>C (n.*598T>C) c.*1585T>C (n.*1585T>C) n.1507T>C c.2092T>C (p.Ser698Pro) c.2251T>C (p.Ser751Pro) c.1854T>C c.1433T>C c.570T>C (p.Leu190=) c.1948T>C (p.Ser650Pro) | |
X | g.53985214A>T | CA413253416 | PHF8 | c.1840T>A (p.Ser614Thr) c.2143T>A (p.Ser715Thr) c.*598T>A (n.*598T>A) c.*1585T>A (n.*1585T>A) n.1507T>A c.2092T>A (p.Ser698Thr) c.2251T>A (p.Ser751Thr) c.1854T>A c.1433T>A c.570T>A (p.Leu190=) c.1948T>A (p.Ser650Thr) | |
X | g.53985215A>C | CA413253418 | PHF8 | c.1839T>G (p.Ala613=) c.2142T>G (p.Ala714=) c.*597T>G (n.*597T>G) c.*1584T>G (n.*1584T>G) n.1506T>G c.2091T>G (p.Ala697=) c.2250T>G (p.Ala750=) c.1853T>G c.1432T>G c.569T>G (p.Leu190Arg) c.1947T>G (p.Ala649=) | |
X | g.53985215A>G | CA413253421 | PHF8 | c.1839T>C (p.Ala613=) c.2142T>C (p.Ala714=) c.*597T>C (n.*597T>C) c.*1584T>C (n.*1584T>C) n.1506T>C c.2091T>C (p.Ala697=) c.2250T>C (p.Ala750=) c.1853T>C c.1432T>C c.569T>C (p.Leu190Pro) c.1947T>C (p.Ala649=) | |
X | g.53985215A>T | CA413253423 | PHF8 | c.1839T>A (p.Ala613=) c.2142T>A (p.Ala714=) c.*597T>A (n.*597T>A) c.*1584T>A (n.*1584T>A) n.1506T>A c.2091T>A (p.Ala697=) c.2250T>A (p.Ala750=) c.1853T>A c.1432T>A c.569T>A (p.Leu190His) c.1947T>A (p.Ala649=) | |
X | g.53985216G>A | CA413253426 | PHF8 | c.1838C>T (p.Ala613Val) c.2141C>T (p.Ala714Val) c.*596C>T (n.*596C>T) c.*1583C>T (n.*1583C>T) n.1505C>T c.2090C>T (p.Ala697Val) c.2249C>T (p.Ala750Val) c.1852C>T c.1431C>T c.568C>T (p.Leu190Phe) c.1946C>T (p.Ala649Val) | |
X | g.53985216G>C | CA413253430 | PHF8 | c.1838C>G (p.Ala613Gly) c.2141C>G (p.Ala714Gly) c.*596C>G (n.*596C>G) c.*1583C>G (n.*1583C>G) n.1505C>G c.2090C>G (p.Ala697Gly) c.2249C>G (p.Ala750Gly) c.1852C>G c.1431C>G c.568C>G (p.Leu190Val) c.1946C>G (p.Ala649Gly) | |
X | g.53985216G>T | CA413253428 | PHF8 | c.1838C>A (p.Ala613Asp) c.2141C>A (p.Ala714Asp) c.*596C>A (n.*596C>A) c.*1583C>A (n.*1583C>A) n.1505C>A c.2090C>A (p.Ala697Asp) c.2249C>A (p.Ala750Asp) c.1852C>A c.1431C>A c.568C>A (p.Leu190Ile) c.1946C>A (p.Ala649Asp) | gnomAD v4 |
X | g.53985217C>A | CA413253432 | PHF8 | c.1837G>T (p.Ala613Ser) c.2140G>T (p.Ala714Ser) c.*595G>T (n.*595G>T) c.*1582G>T (n.*1582G>T) n.1504G>T c.2089G>T (p.Ala697Ser) c.2248G>T (p.Ala750Ser) c.1851G>T c.1430G>T c.567G>T (p.Gln189His) c.1945G>T (p.Ala649Ser) | ClinVar |
X | g.53985217C>G | CA413253437 | PHF8 | c.1837G>C (p.Ala613Pro) c.2140G>C (p.Ala714Pro) c.*595G>C (n.*595G>C) c.*1582G>C (n.*1582G>C) n.1504G>C c.2089G>C (p.Ala697Pro) c.2248G>C (p.Ala750Pro) c.1851G>C c.1430G>C c.567G>C (p.Gln189His) c.1945G>C (p.Ala649Pro) | |
X | g.53985217C>T | CA413253434 | PHF8 | c.1837G>A (p.Ala613Thr) c.2140G>A (p.Ala714Thr) c.*595G>A (n.*595G>A) c.*1582G>A (n.*1582G>A) n.1504G>A c.2089G>A (p.Ala697Thr) c.2248G>A (p.Ala750Thr) c.1851G>A c.1430G>A c.567G>A (p.Gln189=) c.1945G>A (p.Ala649Thr) | gnomAD v4 |
X | g.53985218T>A | CA413253440 | PHF8 | c.1836A>T (p.Pro612=) c.2139A>T (p.Pro713=) c.*594A>T (n.*594A>T) c.*1581A>T (n.*1581A>T) n.1503A>T c.2088A>T (p.Pro696=) c.2247A>T (p.Pro749=) c.1850A>T c.1429A>T c.566A>T (p.Gln189Leu) c.1944A>T (p.Pro648=) | |
X | g.53985218T>C | CA413253442 | PHF8 | c.1836A>G (p.Pro612=) c.2139A>G (p.Pro713=) c.*594A>G (n.*594A>G) c.*1581A>G (n.*1581A>G) n.1503A>G c.2088A>G (p.Pro696=) c.2247A>G (p.Pro749=) c.1850A>G c.1429A>G c.566A>G (p.Gln189Arg) c.1944A>G (p.Pro648=) | dbSNP |
X | g.53985218T>G | CA413253444 | PHF8 | c.1836A>C (p.Pro612=) c.2139A>C (p.Pro713=) c.*594A>C (n.*594A>C) c.*1581A>C (n.*1581A>C) n.1503A>C c.2088A>C (p.Pro696=) c.2247A>C (p.Pro749=) c.1850A>C c.1429A>C c.566A>C (p.Gln189Pro) c.1944A>C (p.Pro648=) | |
X | g.53985218T= | CA2430030720 | PHF8 | c.1836A= (p.Pro612=) c.2139A= (p.Pro713=) c.*594A= (n.*594A=) c.*1581A= (n.*1581A=) n.1503A= c.2088A= (p.Pro696=) c.2247A= (p.Pro749=) c.1850A= c.1429A= c.566A= (p.Gln189=) c.1944A= (p.Pro648=) | |
X | g.53985219G>A | CA413253447 | PHF8 | c.1835C>T (p.Pro612Leu) c.2138C>T (p.Pro713Leu) c.*593C>T (n.*593C>T) c.*1580C>T (n.*1580C>T) n.1502C>T c.2087C>T (p.Pro696Leu) c.2246C>T (p.Pro749Leu) c.1849C>T c.1428C>T c.565C>T (p.Gln189Ter) c.1943C>T (p.Pro648Leu) | gnomAD v4 |
X | g.53985219G>C | CA413253449 | PHF8 | c.1835C>G (p.Pro612Arg) c.2138C>G (p.Pro713Arg) c.*593C>G (n.*593C>G) c.*1580C>G (n.*1580C>G) n.1502C>G c.2087C>G (p.Pro696Arg) c.2246C>G (p.Pro749Arg) c.1849C>G c.1428C>G c.565C>G (p.Gln189Glu) c.1943C>G (p.Pro648Arg) | |
X | g.53985219G>T | CA413253452 | PHF8 | c.1835C>A (p.Pro612Gln) c.2138C>A (p.Pro713Gln) c.*593C>A (n.*593C>A) c.*1580C>A (n.*1580C>A) n.1502C>A c.2087C>A (p.Pro696Gln) c.2246C>A (p.Pro749Gln) c.1849C>A c.1428C>A c.565C>A (p.Gln189Lys) c.1943C>A (p.Pro648Gln) | |
X | g.53985222del | CA2579619386 | PHF8 | c.1835del (p.Pro612GlnfsTer?) c.2138del (p.Pro713GlnfsTer?) c.*593del (n.*593del) c.*1580del (n.*1580del) n.1502del c.2087del (p.Pro696GlnfsTer?) c.2246del (p.Pro749GlnfsTer?) c.1849del c.1428del c.565del (p.Gln189SerfsTer29) c.1943del (p.Pro648GlnfsTer?) | gnomAD v4 |
X | g.53985220G>A | CA413253455 | PHF8 | c.1834C>T (p.Pro612Ser) c.2137C>T (p.Pro713Ser) c.*592C>T (n.*592C>T) c.*1579C>T (n.*1579C>T) n.1501C>T c.2086C>T (p.Pro696Ser) c.2245C>T (p.Pro749Ser) c.1848C>T c.1427C>T c.564C>T (p.Pro188=) c.1942C>T (p.Pro648Ser) | |
X | g.53985220G>C | CA413253457 | PHF8 | c.1834C>G (p.Pro612Ala) c.2137C>G (p.Pro713Ala) c.*592C>G (n.*592C>G) c.*1579C>G (n.*1579C>G) n.1501C>G c.2086C>G (p.Pro696Ala) c.2245C>G (p.Pro749Ala) c.1848C>G c.1427C>G c.564C>G (p.Pro188=) c.1942C>G (p.Pro648Ala) | |
X | g.53985220G>T | CA413253460 | PHF8 | c.1834C>A (p.Pro612Thr) c.2137C>A (p.Pro713Thr) c.*592C>A (n.*592C>A) c.*1579C>A (n.*1579C>A) n.1501C>A c.2086C>A (p.Pro696Thr) c.2245C>A (p.Pro749Thr) c.1848C>A c.1427C>A c.564C>A (p.Pro188=) c.1942C>A (p.Pro648Thr) | gnomAD v4 |
X | g.53985221G>A | CA413253462 | PHF8 | c.1833C>T (p.Ala611=) c.2136C>T (p.Ala712=) c.*591C>T (n.*591C>T) c.*1578C>T (n.*1578C>T) n.1500C>T c.2085C>T (p.Ala695=) c.2244C>T (p.Ala748=) c.1847C>T c.1426C>T c.563C>T (p.Pro188Leu) c.1941C>T (p.Ala647=) | dbSNP gnomAD v4 |
X | g.53985221G>C | CA413253465 | PHF8 | c.1833C>G (p.Ala611=) c.2136C>G (p.Ala712=) c.*591C>G (n.*591C>G) c.*1578C>G (n.*1578C>G) n.1500C>G c.2085C>G (p.Ala695=) c.2244C>G (p.Ala748=) c.1847C>G c.1426C>G c.563C>G (p.Pro188Arg) c.1941C>G (p.Ala647=) | |
X | g.53985221G= | CA2430030721 | PHF8 | c.1833C= (p.Ala611=) c.2136C= (p.Ala712=) c.*591C= (n.*591C=) c.*1578C= (n.*1578C=) n.1500C= c.2085C= (p.Ala695=) c.2244C= (p.Ala748=) c.1847C= c.1426C= c.563C= (p.Pro188=) c.1941C= (p.Ala647=) | |
X | g.53985221G>T | CA413253467 | PHF8 | c.1833C>A (p.Ala611=) c.2136C>A (p.Ala712=) c.*591C>A (n.*591C>A) c.*1578C>A (n.*1578C>A) n.1500C>A c.2085C>A (p.Ala695=) c.2244C>A (p.Ala748=) c.1847C>A c.1426C>A c.563C>A (p.Pro188His) c.1941C>A (p.Ala647=) | gnomAD v4 |
X | g.53985222G>A | CA413253471 | PHF8 | c.1832C>T (p.Ala611Val) c.2135C>T (p.Ala712Val) c.*590C>T (n.*590C>T) c.*1577C>T (n.*1577C>T) n.1499C>T c.2084C>T (p.Ala695Val) c.2243C>T (p.Ala748Val) c.1846C>T c.1425C>T c.562C>T (p.Pro188Ser) c.1940C>T (p.Ala647Val) | dbSNP gnomAD v3 gnomAD v4 |
X | g.53985222G>C | CA413253475 | PHF8 | c.1832C>G (p.Ala611Gly) c.2135C>G (p.Ala712Gly) c.*590C>G (n.*590C>G) c.*1577C>G (n.*1577C>G) n.1499C>G c.2084C>G (p.Ala695Gly) c.2243C>G (p.Ala748Gly) c.1846C>G c.1425C>G c.562C>G (p.Pro188Ala) c.1940C>G (p.Ala647Gly) | |
X | g.53985222G= | CA2430030722 | PHF8 | c.1832C= (p.Ala611=) c.2135C= (p.Ala712=) c.*590C= (n.*590C=) c.*1577C= (n.*1577C=) n.1499C= c.2084C= (p.Ala695=) c.2243C= (p.Ala748=) c.1846C= c.1425C= c.562C= (p.Pro188=) c.1940C= (p.Ala647=) | |
X | g.53985222G>T | CA413253473 | PHF8 | c.1832C>A (p.Ala611Asp) c.2135C>A (p.Ala712Asp) c.*590C>A (n.*590C>A) c.*1577C>A (n.*1577C>A) n.1499C>A c.2084C>A (p.Ala695Asp) c.2243C>A (p.Ala748Asp) c.1846C>A c.1425C>A c.562C>A (p.Pro188Thr) c.1940C>A (p.Ala647Asp) | gnomAD v4 |
X | g.53985223C>A | CA413253479 | PHF8 | c.1831G>T (p.Ala611Ser) c.2134G>T (p.Ala712Ser) c.*589G>T (n.*589G>T) c.*1576G>T (n.*1576G>T) n.1498G>T c.2083G>T (p.Ala695Ser) c.2242G>T (p.Ala748Ser) c.1845G>T c.1424G>T c.561G>T (p.Arg187Ser) c.1939G>T (p.Ala647Ser) | gnomAD v4 |
X | g.53985223C>G | CA413253481 | PHF8 | c.1831G>C (p.Ala611Pro) c.2134G>C (p.Ala712Pro) c.*589G>C (n.*589G>C) c.*1576G>C (n.*1576G>C) n.1498G>C c.2083G>C (p.Ala695Pro) c.2242G>C (p.Ala748Pro) c.1845G>C c.1424G>C c.561G>C (p.Arg187Ser) c.1939G>C (p.Ala647Pro) | |
X | g.53985223C>T | CA413253483 | PHF8 | c.1831G>A (p.Ala611Thr) c.2134G>A (p.Ala712Thr) c.*589G>A (n.*589G>A) c.*1576G>A (n.*1576G>A) n.1498G>A c.2083G>A (p.Ala695Thr) c.2242G>A (p.Ala748Thr) c.1845G>A c.1424G>A c.561G>A (p.Arg187=) c.1939G>A (p.Ala647Thr) | gnomAD v4 |
X | g.53985224C>A | CA413253486 | PHF8 | c.1830G>T (p.Glu610Asp) c.2133G>T (p.Glu711Asp) c.*588G>T (n.*588G>T) c.*1575G>T (n.*1575G>T) n.1497G>T c.2082G>T (p.Glu694Asp) c.2241G>T (p.Glu747Asp) c.1844G>T c.1423G>T c.560G>T (p.Arg187Met) c.1938G>T (p.Glu646Asp) | |
X | g.53985224C>G | CA413253487 | PHF8 | c.1830G>C (p.Glu610Asp) c.2133G>C (p.Glu711Asp) c.*588G>C (n.*588G>C) c.*1575G>C (n.*1575G>C) n.1497G>C c.2082G>C (p.Glu694Asp) c.2241G>C (p.Glu747Asp) c.1844G>C c.1423G>C c.560G>C (p.Arg187Thr) c.1938G>C (p.Glu646Asp) | |
X | g.53985224C>T | CA413253489 | PHF8 | c.1830G>A (p.Glu610=) c.2133G>A (p.Glu711=) c.*588G>A (n.*588G>A) c.*1575G>A (n.*1575G>A) n.1497G>A c.2082G>A (p.Glu694=) c.2241G>A (p.Glu747=) c.1844G>A c.1423G>A c.560G>A (p.Arg187Lys) c.1938G>A (p.Glu646=) | |
X | g.53985225T>A | CA413253491 | PHF8 | c.1829A>T (p.Glu610Val) c.2132A>T (p.Glu711Val) c.*587A>T (n.*587A>T) c.*1574A>T (n.*1574A>T) n.1496A>T c.2081A>T (p.Glu694Val) c.2240A>T (p.Glu747Val) c.1843A>T c.1422A>T c.559A>T (p.Arg187Trp) c.1937A>T (p.Glu646Val) | |
X | g.53985225T>C | CA413253493 | PHF8 | c.1829A>G (p.Glu610Gly) c.2132A>G (p.Glu711Gly) c.*587A>G (n.*587A>G) c.*1574A>G (n.*1574A>G) n.1496A>G c.2081A>G (p.Glu694Gly) c.2240A>G (p.Glu747Gly) c.1843A>G c.1422A>G c.559A>G (p.Arg187Gly) c.1937A>G (p.Glu646Gly) | |
X | g.53985225T>G | CA10423328 | PHF8 | c.1829A>C (p.Glu610Ala) c.2132A>C (p.Glu711Ala) c.*587A>C (n.*587A>C) c.*1574A>C (n.*1574A>C) n.1496A>C c.2081A>C (p.Glu694Ala) c.2240A>C (p.Glu747Ala) c.1843A>C c.1422A>C c.559A>C (p.Arg187=) c.1937A>C (p.Glu646Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53985225T= | CA2430030723 | PHF8 | c.1829A= (p.Glu610=) c.2132A= (p.Glu711=) c.*587A= (n.*587A=) c.*1574A= (n.*1574A=) n.1496A= c.2081A= (p.Glu694=) c.2240A= (p.Glu747=) c.1843A= c.1422A= c.559A= (p.Arg187=) c.1937A= (p.Glu646=) | |
X | g.53985226C>A | CA413253500 | PHF8 | c.1828G>T (p.Glu610Ter) c.2131G>T (p.Glu711Ter) c.*586G>T (n.*586G>T) c.*1573G>T (n.*1573G>T) n.1495G>T c.2080G>T (p.Glu694Ter) c.2239G>T (p.Glu747Ter) c.1842G>T c.1421G>T c.558G>T (p.Pro186=) c.1936G>T (p.Glu646Ter) | gnomAD v4 |
X | g.53985226C= | CA2430030724 | PHF8 | c.1828G= (p.Glu610=) c.2131G= (p.Glu711=) c.*586G= (n.*586G=) c.*1573G= (n.*1573G=) n.1495G= c.2080G= (p.Glu694=) c.2239G= (p.Glu747=) c.1842G= c.1421G= c.558G= (p.Pro186=) c.1936G= (p.Glu646=) | |
X | g.53985226C>G | CA413253502 | PHF8 | c.1828G>C (p.Glu610Gln) c.2131G>C (p.Glu711Gln) c.*586G>C (n.*586G>C) c.*1573G>C (n.*1573G>C) n.1495G>C c.2080G>C (p.Glu694Gln) c.2239G>C (p.Glu747Gln) c.1842G>C c.1421G>C c.558G>C (p.Pro186=) c.1936G>C (p.Glu646Gln) | |
X | g.53985226C>T | CA209130 | PHF8 | c.1828G>A (p.Glu610Lys) c.2131G>A (p.Glu711Lys) c.*586G>A (n.*586G>A) c.*1573G>A (n.*1573G>A) n.1495G>A c.2080G>A (p.Glu694Lys) c.2239G>A (p.Glu747Lys) c.1842G>A c.1421G>A c.558G>A (p.Pro186=) c.1936G>A (p.Glu646Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |