Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
X | g.53985096C>A | CA413252638 | PHF8 | c.1958G>T (p.Ser653Ile) c.2261G>T (p.Ser754Ile) c.*716G>T (n.*716G>T) c.*1703G>T (n.*1703G>T) n.1625G>T c.2210G>T (p.Ser737Ile) c.2369G>T (p.Ser790Ile) c.1972G>T c.1551G>T c.688G>T (p.Ala230Ser) c.2066G>T (p.Ser689Ile) | |
X | g.53985096C= | CA2430030692 | PHF8 | c.1958G= (p.Ser653=) c.2261G= (p.Ser754=) c.*716G= (n.*716G=) c.*1703G= (n.*1703G=) n.1625G= c.2210G= (p.Ser737=) c.2369G= (p.Ser790=) c.1972G= c.1551G= c.688G= (p.Ala230=) c.2066G= (p.Ser689=) | |
X | g.53985096C>G | CA413252640 | PHF8 | c.1958G>C (p.Ser653Thr) c.2261G>C (p.Ser754Thr) c.*716G>C (n.*716G>C) c.*1703G>C (n.*1703G>C) n.1625G>C c.2210G>C (p.Ser737Thr) c.2369G>C (p.Ser790Thr) c.1972G>C c.1551G>C c.688G>C (p.Ala230Pro) c.2066G>C (p.Ser689Thr) | |
X | g.53985096C>T | CA329924351 | PHF8 | c.1958G>A (p.Ser653Asn) c.2261G>A (p.Ser754Asn) c.*716G>A (n.*716G>A) c.*1703G>A (n.*1703G>A) n.1625G>A c.2210G>A (p.Ser737Asn) c.2369G>A (p.Ser790Asn) c.1972G>A c.1551G>A c.688G>A (p.Ala230Thr) c.2066G>A (p.Ser689Asn) | dbSNP |
X | g.53985097T>A | CA413252643 | PHF8 | c.1957A>T (p.Ser653Cys) c.2260A>T (p.Ser754Cys) c.*715A>T (n.*715A>T) c.*1702A>T (n.*1702A>T) n.1624A>T c.2209A>T (p.Ser737Cys) c.2368A>T (p.Ser790Cys) c.1971A>T c.1550A>T c.687A>T (p.Glu229Asp) c.2065A>T (p.Ser689Cys) | |
X | g.53985097T>C | CA413252644 | PHF8 | c.1957A>G (p.Ser653Gly) c.2260A>G (p.Ser754Gly) c.*715A>G (n.*715A>G) c.*1702A>G (n.*1702A>G) n.1624A>G c.2209A>G (p.Ser737Gly) c.2368A>G (p.Ser790Gly) c.1971A>G c.1550A>G c.687A>G (p.Glu229=) c.2065A>G (p.Ser689Gly) | |
X | g.53985097T>G | CA413252645 | PHF8 | c.1957A>C (p.Ser653Arg) c.2260A>C (p.Ser754Arg) c.*715A>C (n.*715A>C) c.*1702A>C (n.*1702A>C) n.1624A>C c.2209A>C (p.Ser737Arg) c.2368A>C (p.Ser790Arg) c.1971A>C c.1550A>C c.687A>C (p.Glu229Asp) c.2065A>C (p.Ser689Arg) | |
X | g.53985098T>A | CA413252646 | PHF8 | c.1956A>T (p.Arg652=) c.2259A>T (p.Arg753=) c.*714A>T (n.*714A>T) c.*1701A>T (n.*1701A>T) n.1623A>T c.2208A>T (p.Arg736=) c.2367A>T (p.Arg789=) c.1970A>T c.1549A>T c.686A>T (p.Glu229Val) c.2064A>T (p.Arg688=) | |
X | g.53985098T>C | CA413252648 | PHF8 | c.1956A>G (p.Arg652=) c.2259A>G (p.Arg753=) c.*714A>G (n.*714A>G) c.*1701A>G (n.*1701A>G) n.1623A>G c.2208A>G (p.Arg736=) c.2367A>G (p.Arg789=) c.1970A>G c.1549A>G c.686A>G (p.Glu229Gly) c.2064A>G (p.Arg688=) | |
X | g.53985098T>G | CA413252647 | PHF8 | c.1956A>C (p.Arg652=) c.2259A>C (p.Arg753=) c.*714A>C (n.*714A>C) c.*1701A>C (n.*1701A>C) n.1623A>C c.2208A>C (p.Arg736=) c.2367A>C (p.Arg789=) c.1970A>C c.1549A>C c.686A>C (p.Glu229Ala) c.2064A>C (p.Arg688=) | gnomAD v4 |
X | g.53985099C>A | CA413252649 | PHF8 | c.1955G>T (p.Arg652Leu) c.2258G>T (p.Arg753Leu) c.*713G>T (n.*713G>T) c.*1700G>T (n.*1700G>T) n.1622G>T c.2207G>T (p.Arg736Leu) c.2366G>T (p.Arg789Leu) c.1969G>T c.1548G>T c.685G>T (p.Glu229Ter) c.2063G>T (p.Arg688Leu) | |
X | g.53985099C= | CA2430030693 | PHF8 | c.1955G= (p.Arg652=) c.2258G= (p.Arg753=) c.*713G= (n.*713G=) c.*1700G= (n.*1700G=) n.1622G= c.2207G= (p.Arg736=) c.2366G= (p.Arg789=) c.1969G= c.1548G= c.685G= (p.Glu229=) c.2063G= (p.Arg688=) | |
X | g.53985099C>G | CA413252650 | PHF8 | c.1955G>C (p.Arg652Pro) c.2258G>C (p.Arg753Pro) c.*713G>C (n.*713G>C) c.*1700G>C (n.*1700G>C) n.1622G>C c.2207G>C (p.Arg736Pro) c.2366G>C (p.Arg789Pro) c.1969G>C c.1548G>C c.685G>C (p.Glu229Gln) c.2063G>C (p.Arg688Pro) | dbSNP |
X | g.53985099C>T | CA413252651 | PHF8 | c.1955G>A (p.Arg652Gln) c.2258G>A (p.Arg753Gln) c.*713G>A (n.*713G>A) c.*1700G>A (n.*1700G>A) n.1622G>A c.2207G>A (p.Arg736Gln) c.2366G>A (p.Arg789Gln) c.1969G>A c.1548G>A c.685G>A (p.Glu229Lys) c.2063G>A (p.Arg688Gln) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
X | g.53985100G>A | CA413252654 | PHF8 | c.1954C>T (p.Arg652Ter) c.2257C>T (p.Arg753Ter) c.*712C>T (n.*712C>T) c.*1699C>T (n.*1699C>T) n.1621C>T c.2206C>T (p.Arg736Ter) c.2365C>T (p.Arg789Ter) c.1968C>T c.1547C>T c.684C>T (p.Ile228=) c.2062C>T (p.Arg688Ter) | ClinVar |
X | g.53985100G>C | CA413252656 | PHF8 | c.1954C>G (p.Arg652Gly) c.2257C>G (p.Arg753Gly) c.*712C>G (n.*712C>G) c.*1699C>G (n.*1699C>G) n.1621C>G c.2206C>G (p.Arg736Gly) c.2365C>G (p.Arg789Gly) c.1968C>G c.1547C>G c.684C>G (p.Ile228Met) c.2062C>G (p.Arg688Gly) | gnomAD v4 |
X | g.53985100G>T | CA516688975 | PHF8 | c.1954C>A (p.Arg652=) c.2257C>A (p.Arg753=) c.*712C>A (n.*712C>A) c.*1699C>A (n.*1699C>A) n.1621C>A c.2206C>A (p.Arg736=) c.2365C>A (p.Arg789=) c.1968C>A c.1547C>A c.684C>A (p.Ile228=) c.2062C>A (p.Arg688=) | |
X | g.53985101A>C | CA413252658 | PHF8 | c.1953T>G (p.Asp651Glu) c.2256T>G (p.Asp752Glu) c.*711T>G (n.*711T>G) c.*1698T>G (n.*1698T>G) n.1620T>G c.2205T>G (p.Asp735Glu) c.2364T>G (p.Asp788Glu) c.1967T>G c.1546T>G c.683T>G (p.Ile228Ser) c.2061T>G (p.Asp687Glu) | gnomAD v4 |
X | g.53985101A>G | CA413252661 | PHF8 | c.1953T>C (p.Asp651=) c.2256T>C (p.Asp752=) c.*711T>C (n.*711T>C) c.*1698T>C (n.*1698T>C) n.1620T>C c.2205T>C (p.Asp735=) c.2364T>C (p.Asp788=) c.1967T>C c.1546T>C c.683T>C (p.Ile228Thr) c.2061T>C (p.Asp687=) | |
X | g.53985101A>T | CA413252663 | PHF8 | c.1953T>A (p.Asp651Glu) c.2256T>A (p.Asp752Glu) c.*711T>A (n.*711T>A) c.*1698T>A (n.*1698T>A) n.1620T>A c.2205T>A (p.Asp735Glu) c.2364T>A (p.Asp788Glu) c.1967T>A c.1546T>A c.683T>A (p.Ile228Asn) c.2061T>A (p.Asp687Glu) | |
X | g.53985102T>A | CA413252665 | PHF8 | c.1952A>T (p.Asp651Val) c.2255A>T (p.Asp752Val) c.*710A>T (n.*710A>T) c.*1697A>T (n.*1697A>T) n.1619A>T c.2204A>T (p.Asp735Val) c.2363A>T (p.Asp788Val) c.1966A>T c.1545A>T c.682A>T (p.Ile228Phe) c.2060A>T (p.Asp687Val) | |
X | g.53985102T>C | CA413252667 | PHF8 | c.1952A>G (p.Asp651Gly) c.2255A>G (p.Asp752Gly) c.*710A>G (n.*710A>G) c.*1697A>G (n.*1697A>G) n.1619A>G c.2204A>G (p.Asp735Gly) c.2363A>G (p.Asp788Gly) c.1966A>G c.1545A>G c.682A>G (p.Ile228Val) c.2060A>G (p.Asp687Gly) | |
X | g.53985102T>G | CA413252670 | PHF8 | c.1952A>C (p.Asp651Ala) c.2255A>C (p.Asp752Ala) c.*710A>C (n.*710A>C) c.*1697A>C (n.*1697A>C) n.1619A>C c.2204A>C (p.Asp735Ala) c.2363A>C (p.Asp788Ala) c.1966A>C c.1545A>C c.682A>C (p.Ile228Leu) c.2060A>C (p.Asp687Ala) | |
X | g.53985103C>A | CA413252678 | PHF8 | c.1951G>T (p.Asp651Tyr) c.2254G>T (p.Asp752Tyr) c.*709G>T (n.*709G>T) c.*1696G>T (n.*1696G>T) n.1618G>T c.2203G>T (p.Asp735Tyr) c.2362G>T (p.Asp788Tyr) c.1965G>T c.1544G>T c.681G>T (p.Arg227Ser) c.2059G>T (p.Asp687Tyr) | |
X | g.53985103C>G | CA413252676 | PHF8 | c.1951G>C (p.Asp651His) c.2254G>C (p.Asp752His) c.*709G>C (n.*709G>C) c.*1696G>C (n.*1696G>C) n.1618G>C c.2203G>C (p.Asp735His) c.2362G>C (p.Asp788His) c.1965G>C c.1544G>C c.681G>C (p.Arg227Ser) c.2059G>C (p.Asp687His) | |
X | g.53985103C>T | CA413252673 | PHF8 | c.1951G>A (p.Asp651Asn) c.2254G>A (p.Asp752Asn) c.*709G>A (n.*709G>A) c.*1696G>A (n.*1696G>A) n.1618G>A c.2203G>A (p.Asp735Asn) c.2362G>A (p.Asp788Asn) c.1965G>A c.1544G>A c.681G>A (p.Arg227=) c.2059G>A (p.Asp687Asn) | |
X | g.53985104C>A | CA413252681 | PHF8 | c.1950G>T (p.Gln650His) c.2253G>T (p.Gln751His) c.*708G>T (n.*708G>T) c.*1695G>T (n.*1695G>T) n.1617G>T c.2202G>T (p.Gln734His) c.2361G>T (p.Gln787His) c.1964G>T c.1543G>T c.680G>T (p.Arg227Met) c.2058G>T (p.Gln686His) | |
X | g.53985104C>G | CA413252683 | PHF8 | c.1950G>C (p.Gln650His) c.2253G>C (p.Gln751His) c.*708G>C (n.*708G>C) c.*1695G>C (n.*1695G>C) n.1617G>C c.2202G>C (p.Gln734His) c.2361G>C (p.Gln787His) c.1964G>C c.1543G>C c.680G>C (p.Arg227Thr) c.2058G>C (p.Gln686His) | |
X | g.53985104C>T | CA413252686 | PHF8 | c.1950G>A (p.Gln650=) c.2253G>A (p.Gln751=) c.*708G>A (n.*708G>A) c.*1695G>A (n.*1695G>A) n.1617G>A c.2202G>A (p.Gln734=) c.2361G>A (p.Gln787=) c.1964G>A c.1543G>A c.680G>A (p.Arg227Lys) c.2058G>A (p.Gln686=) | |
X | g.53985105T>A | CA413252689 | PHF8 | c.1949A>T (p.Gln650Leu) c.2252A>T (p.Gln751Leu) c.*707A>T (n.*707A>T) c.*1694A>T (n.*1694A>T) n.1616A>T c.2201A>T (p.Gln734Leu) c.2360A>T (p.Gln787Leu) c.1963A>T c.1542A>T c.679A>T (p.Arg227Trp) c.2057A>T (p.Gln686Leu) | |
X | g.53985105T>C | CA413252691 | PHF8 | c.1949A>G (p.Gln650Arg) c.2252A>G (p.Gln751Arg) c.*707A>G (n.*707A>G) c.*1694A>G (n.*1694A>G) n.1616A>G c.2201A>G (p.Gln734Arg) c.2360A>G (p.Gln787Arg) c.1963A>G c.1542A>G c.679A>G (p.Arg227Gly) c.2057A>G (p.Gln686Arg) | gnomAD v4 |
X | g.53985105T>G | CA413252694 | PHF8 | c.1949A>C (p.Gln650Pro) c.2252A>C (p.Gln751Pro) c.*707A>C (n.*707A>C) c.*1694A>C (n.*1694A>C) n.1616A>C c.2201A>C (p.Gln734Pro) c.2360A>C (p.Gln787Pro) c.1963A>C c.1542A>C c.679A>C (p.Arg227=) c.2057A>C (p.Gln686Pro) | |
X | g.53985106G>A | CA413252697 | PHF8 | c.1948C>T (p.Gln650Ter) c.2251C>T (p.Gln751Ter) c.*706C>T (n.*706C>T) c.*1693C>T (n.*1693C>T) n.1615C>T c.2200C>T (p.Gln734Ter) c.2359C>T (p.Gln787Ter) c.1962C>T c.1541C>T c.678C>T (p.Asp226=) c.2056C>T (p.Gln686Ter) | |
X | g.53985106G>C | CA413252699 | PHF8 | c.1948C>G (p.Gln650Glu) c.2251C>G (p.Gln751Glu) c.*706C>G (n.*706C>G) c.*1693C>G (n.*1693C>G) n.1615C>G c.2200C>G (p.Gln734Glu) c.2359C>G (p.Gln787Glu) c.1962C>G c.1541C>G c.678C>G (p.Asp226Glu) c.2056C>G (p.Gln686Glu) | |
X | g.53985106G>T | CA413252701 | PHF8 | c.1948C>A (p.Gln650Lys) c.2251C>A (p.Gln751Lys) c.*706C>A (n.*706C>A) c.*1693C>A (n.*1693C>A) n.1615C>A c.2200C>A (p.Gln734Lys) c.2359C>A (p.Gln787Lys) c.1962C>A c.1541C>A c.678C>A (p.Asp226Glu) c.2056C>A (p.Gln686Lys) | |
X | g.53985107T>A | CA413252704 | PHF8 | c.1947A>T (p.Gly649=) c.2250A>T (p.Gly750=) c.*705A>T (n.*705A>T) c.*1692A>T (n.*1692A>T) n.1614A>T c.2199A>T (p.Gly733=) c.2358A>T (p.Gly786=) c.1961A>T c.1540A>T c.677A>T (p.Asp226Val) c.2055A>T (p.Gly685=) | |
X | g.53985107T>C | CA413252706 | PHF8 | c.1947A>G (p.Gly649=) c.2250A>G (p.Gly750=) c.*705A>G (n.*705A>G) c.*1692A>G (n.*1692A>G) n.1614A>G c.2199A>G (p.Gly733=) c.2358A>G (p.Gly786=) c.1961A>G c.1540A>G c.677A>G (p.Asp226Gly) c.2055A>G (p.Gly685=) | |
X | g.53985107T>G | CA413252708 | PHF8 | c.1947A>C (p.Gly649=) c.2250A>C (p.Gly750=) c.*705A>C (n.*705A>C) c.*1692A>C (n.*1692A>C) n.1614A>C c.2199A>C (p.Gly733=) c.2358A>C (p.Gly786=) c.1961A>C c.1540A>C c.677A>C (p.Asp226Ala) c.2055A>C (p.Gly685=) | |
X | g.53985108C>A | CA413252711 | PHF8 | c.1946G>T (p.Gly649Val) c.2249G>T (p.Gly750Val) c.*704G>T (n.*704G>T) c.*1691G>T (n.*1691G>T) n.1613G>T c.2198G>T (p.Gly733Val) c.2357G>T (p.Gly786Val) c.1960G>T c.1539G>T c.676G>T (p.Asp226Tyr) c.2054G>T (p.Gly685Val) | |
X | g.53985108C>G | CA413252716 | PHF8 | c.1946G>C (p.Gly649Ala) c.2249G>C (p.Gly750Ala) c.*704G>C (n.*704G>C) c.*1691G>C (n.*1691G>C) n.1613G>C c.2198G>C (p.Gly733Ala) c.2357G>C (p.Gly786Ala) c.1960G>C c.1539G>C c.676G>C (p.Asp226His) c.2054G>C (p.Gly685Ala) | |
X | g.53985108C>T | CA413252714 | PHF8 | c.1946G>A (p.Gly649Glu) c.2249G>A (p.Gly750Glu) c.*704G>A (n.*704G>A) c.*1691G>A (n.*1691G>A) n.1613G>A c.2198G>A (p.Gly733Glu) c.2357G>A (p.Gly786Glu) c.1960G>A c.1539G>A c.676G>A (p.Asp226Asn) c.2054G>A (p.Gly685Glu) | |
X | g.53985109C>A | CA413252719 | PHF8 | c.1945G>T (p.Gly649Ter) c.2248G>T (p.Gly750Ter) c.*703G>T (n.*703G>T) c.*1690G>T (n.*1690G>T) n.1612G>T c.2197G>T (p.Gly733Ter) c.2356G>T (p.Gly786Ter) c.1959G>T c.1538G>T c.675G>T (p.Gly225=) c.2053G>T (p.Gly685Ter) | |
X | g.53985109C>G | CA413252723 | PHF8 | c.1945G>C (p.Gly649Arg) c.2248G>C (p.Gly750Arg) c.*703G>C (n.*703G>C) c.*1690G>C (n.*1690G>C) n.1612G>C c.2197G>C (p.Gly733Arg) c.2356G>C (p.Gly786Arg) c.1959G>C c.1538G>C c.675G>C (p.Gly225=) c.2053G>C (p.Gly685Arg) | |
X | g.53985109C>T | CA413252721 | PHF8 | c.1945G>A (p.Gly649Arg) c.2248G>A (p.Gly750Arg) c.*703G>A (n.*703G>A) c.*1690G>A (n.*1690G>A) n.1612G>A c.2197G>A (p.Gly733Arg) c.2356G>A (p.Gly786Arg) c.1959G>A c.1538G>A c.675G>A (p.Gly225=) c.2053G>A (p.Gly685Arg) | gnomAD v4 |
X | g.53985110C>A | CA413252727 | PHF8 | c.1944G>T (p.Gly648=) c.2247G>T (p.Gly749=) c.*702G>T (n.*702G>T) c.*1689G>T (n.*1689G>T) n.1611G>T c.2196G>T (p.Gly732=) c.2355G>T (p.Gly785=) c.1958G>T c.1537G>T c.674G>T (p.Gly225Val) c.2052G>T (p.Gly684=) | |
X | g.53985110C= | CA2430030694 | PHF8 | c.1944G= (p.Gly648=) c.2247G= (p.Gly749=) c.*702G= (n.*702G=) c.*1689G= (n.*1689G=) n.1611G= c.2196G= (p.Gly732=) c.2355G= (p.Gly785=) c.1958G= c.1537G= c.674G= (p.Gly225=) c.2052G= (p.Gly684=) | |
X | g.53985110C>G | CA413252729 | PHF8 | c.1944G>C (p.Gly648=) c.2247G>C (p.Gly749=) c.*702G>C (n.*702G>C) c.*1689G>C (n.*1689G>C) n.1611G>C c.2196G>C (p.Gly732=) c.2355G>C (p.Gly785=) c.1958G>C c.1537G>C c.674G>C (p.Gly225Ala) c.2052G>C (p.Gly684=) | |
X | g.53985110C>T | CA10423318 | PHF8 | c.1944G>A (p.Gly648=) c.2247G>A (p.Gly749=) c.*702G>A (n.*702G>A) c.*1689G>A (n.*1689G>A) n.1611G>A c.2196G>A (p.Gly732=) c.2355G>A (p.Gly785=) c.1958G>A c.1537G>A c.674G>A (p.Gly225Glu) c.2052G>A (p.Gly684=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
X | g.53985111C>A | CA413252734 | PHF8 | c.1943G>T (p.Gly648Val) c.2246G>T (p.Gly749Val) c.*701G>T (n.*701G>T) c.*1688G>T (n.*1688G>T) n.1610G>T c.2195G>T (p.Gly732Val) c.2354G>T (p.Gly785Val) c.1957G>T c.1536G>T c.673G>T (p.Gly225Trp) c.2051G>T (p.Gly684Val) | |
X | g.53985111C>G | CA413252736 | PHF8 | c.1943G>C (p.Gly648Ala) c.2246G>C (p.Gly749Ala) c.*701G>C (n.*701G>C) c.*1688G>C (n.*1688G>C) n.1610G>C c.2195G>C (p.Gly732Ala) c.2354G>C (p.Gly785Ala) c.1957G>C c.1536G>C c.673G>C (p.Gly225Arg) c.2051G>C (p.Gly684Ala) | ClinVar gnomAD v4 |
X | g.53985111C>T | CA413252739 | PHF8 | c.1943G>A (p.Gly648Glu) c.2246G>A (p.Gly749Glu) c.*701G>A (n.*701G>A) c.*1688G>A (n.*1688G>A) n.1610G>A c.2195G>A (p.Gly732Glu) c.2354G>A (p.Gly785Glu) c.1957G>A c.1536G>A c.673G>A (p.Gly225Arg) c.2051G>A (p.Gly684Glu) | |
X | g.53985112C>A | CA413252747 | PHF8 | c.1942G>T (p.Gly648Trp) c.2245G>T (p.Gly749Trp) c.*700G>T (n.*700G>T) c.*1687G>T (n.*1687G>T) n.1609G>T c.2194G>T (p.Gly732Trp) c.2353G>T (p.Gly785Trp) c.1956G>T c.1535G>T c.672G>T (p.Leu224=) c.2050G>T (p.Gly684Trp) | gnomAD v4 |
X | g.53985112C= | CA2430030695 | PHF8 | c.1942G= (p.Gly648=) c.2245G= (p.Gly749=) c.*700G= (n.*700G=) c.*1687G= (n.*1687G=) n.1609G= c.2194G= (p.Gly732=) c.2353G= (p.Gly785=) c.1956G= c.1535G= c.672G= (p.Leu224=) c.2050G= (p.Gly684=) | |
X | g.53985112C>G | CA413252745 | PHF8 | c.1942G>C (p.Gly648Arg) c.2245G>C (p.Gly749Arg) c.*700G>C (n.*700G>C) c.*1687G>C (n.*1687G>C) n.1609G>C c.2194G>C (p.Gly732Arg) c.2353G>C (p.Gly785Arg) c.1956G>C c.1535G>C c.672G>C (p.Leu224=) c.2050G>C (p.Gly684Arg) | |
X | g.53985112C>T | CA413252742 | PHF8 | c.1942G>A (p.Gly648Arg) c.2245G>A (p.Gly749Arg) c.*700G>A (n.*700G>A) c.*1687G>A (n.*1687G>A) n.1609G>A c.2194G>A (p.Gly732Arg) c.2353G>A (p.Gly785Arg) c.1956G>A c.1535G>A c.672G>A (p.Leu224=) c.2050G>A (p.Gly684Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53985113A>C | CA413252750 | PHF8 | c.1941T>G (p.Thr647=) c.2244T>G (p.Thr748=) c.*699T>G (n.*699T>G) c.*1686T>G (n.*1686T>G) n.1608T>G c.2193T>G (p.Thr731=) c.2352T>G (p.Thr784=) c.1955T>G c.1534T>G c.671T>G (p.Leu224Arg) c.2049T>G (p.Thr683=) | |
X | g.53985113A>G | CA413252751 | PHF8 | c.1941T>C (p.Thr647=) c.2244T>C (p.Thr748=) c.*699T>C (n.*699T>C) c.*1686T>C (n.*1686T>C) n.1608T>C c.2193T>C (p.Thr731=) c.2352T>C (p.Thr784=) c.1955T>C c.1534T>C c.671T>C (p.Leu224Pro) c.2049T>C (p.Thr683=) | |
X | g.53985113A>T | CA413252754 | PHF8 | c.1941T>A (p.Thr647=) c.2244T>A (p.Thr748=) c.*699T>A (n.*699T>A) c.*1686T>A (n.*1686T>A) n.1608T>A c.2193T>A (p.Thr731=) c.2352T>A (p.Thr784=) c.1955T>A c.1534T>A c.671T>A (p.Leu224Gln) c.2049T>A (p.Thr683=) | |
X | g.53985114G>A | CA413252757 | PHF8 | c.1940C>T (p.Thr647Ile) c.2243C>T (p.Thr748Ile) c.*698C>T (n.*698C>T) c.*1685C>T (n.*1685C>T) n.1607C>T c.2192C>T (p.Thr731Ile) c.2351C>T (p.Thr784Ile) c.1954C>T c.1533C>T c.670C>T (p.Leu224=) c.2048C>T (p.Thr683Ile) | dbSNP gnomAD v2 gnomAD v4 |
X | g.53985114G>C | CA413252759 | PHF8 | c.1940C>G (p.Thr647Ser) c.2243C>G (p.Thr748Ser) c.*698C>G (n.*698C>G) c.*1685C>G (n.*1685C>G) n.1607C>G c.2192C>G (p.Thr731Ser) c.2351C>G (p.Thr784Ser) c.1954C>G c.1533C>G c.670C>G (p.Leu224Val) c.2048C>G (p.Thr683Ser) | |
X | g.53985114G= | CA2430030696 | PHF8 | c.1940C= (p.Thr647=) c.2243C= (p.Thr748=) c.*698C= (n.*698C=) c.*1685C= (n.*1685C=) n.1607C= c.2192C= (p.Thr731=) c.2351C= (p.Thr784=) c.1954C= c.1533C= c.670C= (p.Leu224=) c.2048C= (p.Thr683=) | |
X | g.53985114G>T | CA413252762 | PHF8 | c.1940C>A (p.Thr647Asn) c.2243C>A (p.Thr748Asn) c.*698C>A (n.*698C>A) c.*1685C>A (n.*1685C>A) n.1607C>A c.2192C>A (p.Thr731Asn) c.2351C>A (p.Thr784Asn) c.1954C>A c.1533C>A c.670C>A (p.Leu224Met) c.2048C>A (p.Thr683Asn) | |
X | g.53985115T>A | CA413252764 | PHF8 | c.1939A>T (p.Thr647Ser) c.2242A>T (p.Thr748Ser) c.*697A>T (n.*697A>T) c.*1684A>T (n.*1684A>T) n.1606A>T c.2191A>T (p.Thr731Ser) c.2350A>T (p.Thr784Ser) c.1953A>T c.1532A>T c.669A>T (p.Gly223=) c.2047A>T (p.Thr683Ser) | |
X | g.53985115T>C | CA413252768 | PHF8 | c.1939A>G (p.Thr647Ala) c.2242A>G (p.Thr748Ala) c.*697A>G (n.*697A>G) c.*1684A>G (n.*1684A>G) n.1606A>G c.2191A>G (p.Thr731Ala) c.2350A>G (p.Thr784Ala) c.1953A>G c.1532A>G c.669A>G (p.Gly223=) c.2047A>G (p.Thr683Ala) | |
X | g.53985115T>G | CA413252766 | PHF8 | c.1939A>C (p.Thr647Pro) c.2242A>C (p.Thr748Pro) c.*697A>C (n.*697A>C) c.*1684A>C (n.*1684A>C) n.1606A>C c.2191A>C (p.Thr731Pro) c.2350A>C (p.Thr784Pro) c.1953A>C c.1532A>C c.669A>C (p.Gly223=) c.2047A>C (p.Thr683Pro) | |
X | g.53985116C>A | CA413252771 | PHF8 | c.1938G>T (p.Trp646Cys) c.2241G>T (p.Trp747Cys) c.*696G>T (n.*696G>T) c.*1683G>T (n.*1683G>T) n.1605G>T c.2190G>T (p.Trp730Cys) c.2349G>T (p.Trp783Cys) c.1952G>T c.1531G>T c.668G>T (p.Gly223Val) c.2046G>T (p.Trp682Cys) | gnomAD v4 |
X | g.53985116C>G | CA413252773 | PHF8 | c.1938G>C (p.Trp646Cys) c.2241G>C (p.Trp747Cys) c.*696G>C (n.*696G>C) c.*1683G>C (n.*1683G>C) n.1605G>C c.2190G>C (p.Trp730Cys) c.2349G>C (p.Trp783Cys) c.1952G>C c.1531G>C c.668G>C (p.Gly223Ala) c.2046G>C (p.Trp682Cys) | |
X | g.53985116C>T | CA413252775 | PHF8 | c.1938G>A (p.Trp646Ter) c.2241G>A (p.Trp747Ter) c.*696G>A (n.*696G>A) c.*1683G>A (n.*1683G>A) n.1605G>A c.2190G>A (p.Trp730Ter) c.2349G>A (p.Trp783Ter) c.1952G>A c.1531G>A c.668G>A (p.Gly223Glu) c.2046G>A (p.Trp682Ter) | |
X | g.53985117C>A | CA413252778 | PHF8 | c.1937G>T (p.Trp646Leu) c.2240G>T (p.Trp747Leu) c.*695G>T (n.*695G>T) c.*1682G>T (n.*1682G>T) n.1604G>T c.2189G>T (p.Trp730Leu) c.2348G>T (p.Trp783Leu) c.1951G>T c.1530G>T c.667G>T (p.Gly223Ter) c.2045G>T (p.Trp682Leu) | |
X | g.53985117C>G | CA413252779 | PHF8 | c.1937G>C (p.Trp646Ser) c.2240G>C (p.Trp747Ser) c.*695G>C (n.*695G>C) c.*1682G>C (n.*1682G>C) n.1604G>C c.2189G>C (p.Trp730Ser) c.2348G>C (p.Trp783Ser) c.1951G>C c.1530G>C c.667G>C (p.Gly223Arg) c.2045G>C (p.Trp682Ser) | |
X | g.53985117C>T | CA413252782 | PHF8 | c.1937G>A (p.Trp646Ter) c.2240G>A (p.Trp747Ter) c.*695G>A (n.*695G>A) c.*1682G>A (n.*1682G>A) n.1604G>A c.2189G>A (p.Trp730Ter) c.2348G>A (p.Trp783Ter) c.1951G>A c.1530G>A c.667G>A (p.Gly223Arg) c.2045G>A (p.Trp682Ter) | |
X | g.53985118A>C | CA413252785 | PHF8 | c.1936T>G (p.Trp646Gly) c.2239T>G (p.Trp747Gly) c.*694T>G (n.*694T>G) c.*1681T>G (n.*1681T>G) n.1603T>G c.2188T>G (p.Trp730Gly) c.2347T>G (p.Trp783Gly) c.1950T>G c.1529T>G c.666T>G (p.Gly222=) c.2044T>G (p.Trp682Gly) | |
X | g.53985118A>G | CA413252787 | PHF8 | c.1936T>C (p.Trp646Arg) c.2239T>C (p.Trp747Arg) c.*694T>C (n.*694T>C) c.*1681T>C (n.*1681T>C) n.1603T>C c.2188T>C (p.Trp730Arg) c.2347T>C (p.Trp783Arg) c.1950T>C c.1529T>C c.666T>C (p.Gly222=) c.2044T>C (p.Trp682Arg) | |
X | g.53985118A>T | CA413252789 | PHF8 | c.1936T>A (p.Trp646Arg) c.2239T>A (p.Trp747Arg) c.*694T>A (n.*694T>A) c.*1681T>A (n.*1681T>A) n.1603T>A c.2188T>A (p.Trp730Arg) c.2347T>A (p.Trp783Arg) c.1950T>A c.1529T>A c.666T>A (p.Gly222=) c.2044T>A (p.Trp682Arg) | |
X | g.53985119C>A | CA413252791 | PHF8 | c.1935G>T (p.Trp645Cys) c.2238G>T (p.Trp746Cys) c.*693G>T (n.*693G>T) c.*1680G>T (n.*1680G>T) n.1602G>T c.2187G>T (p.Trp729Cys) c.2346G>T (p.Trp782Cys) c.1949G>T c.1528G>T c.665G>T (p.Gly222Val) c.2043G>T (p.Trp681Cys) | |
X | g.53985119C>G | CA413252793 | PHF8 | c.1935G>C (p.Trp645Cys) c.2238G>C (p.Trp746Cys) c.*693G>C (n.*693G>C) c.*1680G>C (n.*1680G>C) n.1602G>C c.2187G>C (p.Trp729Cys) c.2346G>C (p.Trp782Cys) c.1949G>C c.1528G>C c.665G>C (p.Gly222Ala) c.2043G>C (p.Trp681Cys) | gnomAD v4 |
X | g.53985119C>T | CA413252795 | PHF8 | c.1935G>A (p.Trp645Ter) c.2238G>A (p.Trp746Ter) c.*693G>A (n.*693G>A) c.*1680G>A (n.*1680G>A) n.1602G>A c.2187G>A (p.Trp729Ter) c.2346G>A (p.Trp782Ter) c.1949G>A c.1528G>A c.665G>A (p.Gly222Asp) c.2043G>A (p.Trp681Ter) | |
X | g.53985120C>A | CA413252797 | PHF8 | c.1934G>T (p.Trp645Leu) c.2237G>T (p.Trp746Leu) c.*692G>T (n.*692G>T) c.*1679G>T (n.*1679G>T) n.1601G>T c.2186G>T (p.Trp729Leu) c.2345G>T (p.Trp782Leu) c.1948G>T c.1527G>T c.664G>T (p.Gly222Cys) c.2042G>T (p.Trp681Leu) | gnomAD v4 |
X | g.53985120C>G | CA413252801 | PHF8 | c.1934G>C (p.Trp645Ser) c.2237G>C (p.Trp746Ser) c.*692G>C (n.*692G>C) c.*1679G>C (n.*1679G>C) n.1601G>C c.2186G>C (p.Trp729Ser) c.2345G>C (p.Trp782Ser) c.1948G>C c.1527G>C c.664G>C (p.Gly222Arg) c.2042G>C (p.Trp681Ser) | |
X | g.53985120C>T | CA413252800 | PHF8 | c.1934G>A (p.Trp645Ter) c.2237G>A (p.Trp746Ter) c.*692G>A (n.*692G>A) c.*1679G>A (n.*1679G>A) n.1601G>A c.2186G>A (p.Trp729Ter) c.2345G>A (p.Trp782Ter) c.1948G>A c.1527G>A c.664G>A (p.Gly222Ser) c.2042G>A (p.Trp681Ter) | |
X | g.53985121A>C | CA413252805 | PHF8 | c.1933T>G (p.Trp645Gly) c.2236T>G (p.Trp746Gly) c.*691T>G (n.*691T>G) c.*1678T>G (n.*1678T>G) n.1600T>G c.2185T>G (p.Trp729Gly) c.2344T>G (p.Trp782Gly) c.1947T>G c.1526T>G c.663T>G (p.Pro221=) c.2041T>G (p.Trp681Gly) | |
X | g.53985121A>G | CA413252807 | PHF8 | c.1933T>C (p.Trp645Arg) c.2236T>C (p.Trp746Arg) c.*691T>C (n.*691T>C) c.*1678T>C (n.*1678T>C) n.1600T>C c.2185T>C (p.Trp729Arg) c.2344T>C (p.Trp782Arg) c.1947T>C c.1526T>C c.663T>C (p.Pro221=) c.2041T>C (p.Trp681Arg) | |
X | g.53985121A>T | CA413252812 | PHF8 | c.1933T>A (p.Trp645Arg) c.2236T>A (p.Trp746Arg) c.*691T>A (n.*691T>A) c.*1678T>A (n.*1678T>A) n.1600T>A c.2185T>A (p.Trp729Arg) c.2344T>A (p.Trp782Arg) c.1947T>A c.1526T>A c.663T>A (p.Pro221=) c.2041T>A (p.Trp681Arg) | |
X | g.53985122G>A | CA413252816 | PHF8 | c.1932C>T (p.Ala644=) c.2235C>T (p.Ala745=) c.*690C>T (n.*690C>T) c.*1677C>T (n.*1677C>T) n.1599C>T c.2184C>T (p.Ala728=) c.2343C>T (p.Ala781=) c.1946C>T c.1525C>T c.662C>T (p.Pro221Leu) c.2040C>T (p.Ala680=) | gnomAD v4 |
X | g.53985122G>C | CA413252818 | PHF8 | c.1932C>G (p.Ala644=) c.2235C>G (p.Ala745=) c.*690C>G (n.*690C>G) c.*1677C>G (n.*1677C>G) n.1599C>G c.2184C>G (p.Ala728=) c.2343C>G (p.Ala781=) c.1946C>G c.1525C>G c.662C>G (p.Pro221Arg) c.2040C>G (p.Ala680=) | |
X | g.53985122G>T | CA413252820 | PHF8 | c.1932C>A (p.Ala644=) c.2235C>A (p.Ala745=) c.*690C>A (n.*690C>A) c.*1677C>A (n.*1677C>A) n.1599C>A c.2184C>A (p.Ala728=) c.2343C>A (p.Ala781=) c.1946C>A c.1525C>A c.662C>A (p.Pro221His) c.2040C>A (p.Ala680=) | |
X | g.53985123G>A | CA413252823 | PHF8 | c.1931C>T (p.Ala644Val) c.2234C>T (p.Ala745Val) c.*689C>T (n.*689C>T) c.*1676C>T (n.*1676C>T) n.1598C>T c.2183C>T (p.Ala728Val) c.2342C>T (p.Ala781Val) c.1945C>T c.1524C>T c.661C>T (p.Pro221Ser) c.2039C>T (p.Ala680Val) | ClinVar dbSNP gnomAD v4 |
X | g.53985123G>C | CA413252825 | PHF8 | c.1931C>G (p.Ala644Gly) c.2234C>G (p.Ala745Gly) c.*689C>G (n.*689C>G) c.*1676C>G (n.*1676C>G) n.1598C>G c.2183C>G (p.Ala728Gly) c.2342C>G (p.Ala781Gly) c.1945C>G c.1524C>G c.661C>G (p.Pro221Ala) c.2039C>G (p.Ala680Gly) | |
X | g.53985123G= | CA2430030697 | PHF8 | c.1931C= (p.Ala644=) c.2234C= (p.Ala745=) c.*689C= (n.*689C=) c.*1676C= (n.*1676C=) n.1598C= c.2183C= (p.Ala728=) c.2342C= (p.Ala781=) c.1945C= c.1524C= c.661C= (p.Pro221=) c.2039C= (p.Ala680=) | |
X | g.53985123G>T | CA413252827 | PHF8 | c.1931C>A (p.Ala644Asp) c.2234C>A (p.Ala745Asp) c.*689C>A (n.*689C>A) c.*1676C>A (n.*1676C>A) n.1598C>A c.2183C>A (p.Ala728Asp) c.2342C>A (p.Ala781Asp) c.1945C>A c.1524C>A c.661C>A (p.Pro221Thr) c.2039C>A (p.Ala680Asp) | |
X | g.53985124C>A | CA413252830 | PHF8 | c.1930G>T (p.Ala644Ser) c.2233G>T (p.Ala745Ser) c.*688G>T (n.*688G>T) c.*1675G>T (n.*1675G>T) n.1597G>T c.2182G>T (p.Ala728Ser) c.2341G>T (p.Ala781Ser) c.1944G>T c.1523G>T c.660G>T (p.Arg220Ser) c.2038G>T (p.Ala680Ser) | |
X | g.53985124C>G | CA413252832 | PHF8 | c.1930G>C (p.Ala644Pro) c.2233G>C (p.Ala745Pro) c.*688G>C (n.*688G>C) c.*1675G>C (n.*1675G>C) n.1597G>C c.2182G>C (p.Ala728Pro) c.2341G>C (p.Ala781Pro) c.1944G>C c.1523G>C c.660G>C (p.Arg220Ser) c.2038G>C (p.Ala680Pro) | |
X | g.53985124C>T | CA413252835 | PHF8 | c.1930G>A (p.Ala644Thr) c.2233G>A (p.Ala745Thr) c.*688G>A (n.*688G>A) c.*1675G>A (n.*1675G>A) n.1597G>A c.2182G>A (p.Ala728Thr) c.2341G>A (p.Ala781Thr) c.1944G>A c.1523G>A c.660G>A (p.Arg220=) c.2038G>A (p.Ala680Thr) | |
X | g.53985125C>A | CA413252838 | PHF8 | c.1929G>T (p.Gln643His) c.2232G>T (p.Gln744His) c.*687G>T (n.*687G>T) c.*1674G>T (n.*1674G>T) n.1596G>T c.2181G>T (p.Gln727His) c.2340G>T (p.Gln780His) c.1943G>T c.1522G>T c.659G>T (p.Arg220Met) c.2037G>T (p.Gln679His) | |
X | g.53985125C>G | CA413252836 | PHF8 | c.1929G>C (p.Gln643His) c.2232G>C (p.Gln744His) c.*687G>C (n.*687G>C) c.*1674G>C (n.*1674G>C) n.1596G>C c.2181G>C (p.Gln727His) c.2340G>C (p.Gln780His) c.1943G>C c.1522G>C c.659G>C (p.Arg220Thr) c.2037G>C (p.Gln679His) | |
X | g.53985125C>T | CA413252837 | PHF8 | c.1929G>A (p.Gln643=) c.2232G>A (p.Gln744=) c.*687G>A (n.*687G>A) c.*1674G>A (n.*1674G>A) n.1596G>A c.2181G>A (p.Gln727=) c.2340G>A (p.Gln780=) c.1943G>A c.1522G>A c.659G>A (p.Arg220Lys) c.2037G>A (p.Gln679=) | |
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 |