| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.25891738T>A | CA409805447 | APP | c.2195A>T (p.His732Leu) c.1970A>T (p.His657Leu) c.1802A>T (p.His601Leu) c.2138A>T (p.His713Leu) c.2141A>T (p.His714Leu) c.1865A>T (p.His622Leu) c.2027A>T (p.His676Leu) c.2123A>T (p.His708Leu) n.542A>T c.2084A>T (p.His695Leu) c.1916A>T (p.His639Leu) | |
| 21 | g.25891738T>C | CA409805448 | APP | c.2195A>G (p.His732Arg) c.1970A>G (p.His657Arg) c.1802A>G (p.His601Arg) c.2138A>G (p.His713Arg) c.2141A>G (p.His714Arg) c.1865A>G (p.His622Arg) c.2027A>G (p.His676Arg) c.2123A>G (p.His708Arg) n.542A>G c.2084A>G (p.His695Arg) c.1916A>G (p.His639Arg) | |
| 21 | g.25891738T>G | CA409805449 | APP | c.2195A>C (p.His732Pro) c.1970A>C (p.His657Pro) c.1802A>C (p.His601Pro) c.2138A>C (p.His713Pro) c.2141A>C (p.His714Pro) c.1865A>C (p.His622Pro) c.2027A>C (p.His676Pro) c.2123A>C (p.His708Pro) n.542A>C c.2084A>C (p.His695Pro) c.1916A>C (p.His639Pro) | |
| 21 | g.25891739G>A | CA409805450 | APP | c.2194C>T (p.His732Tyr) c.1969C>T (p.His657Tyr) c.1801C>T (p.His601Tyr) c.2137C>T (p.His713Tyr) c.2140C>T (p.His714Tyr) c.1864C>T (p.His622Tyr) c.2026C>T (p.His676Tyr) c.2122C>T (p.His708Tyr) n.541C>T c.2083C>T (p.His695Tyr) c.1915C>T (p.His639Tyr) | |
| 21 | g.25891739G>C | CA409805451 | APP | c.2194C>G (p.His732Asp) c.1969C>G (p.His657Asp) c.1801C>G (p.His601Asp) c.2137C>G (p.His713Asp) c.2140C>G (p.His714Asp) c.1864C>G (p.His622Asp) c.2026C>G (p.His676Asp) c.2122C>G (p.His708Asp) n.541C>G c.2083C>G (p.His695Asp) c.1915C>G (p.His639Asp) | |
| 21 | g.25891739G>T | CA409805452 | APP | c.2194C>A (p.His732Asn) c.1969C>A (p.His657Asn) c.1801C>A (p.His601Asn) c.2137C>A (p.His713Asn) c.2140C>A (p.His714Asn) c.1864C>A (p.His622Asn) c.2026C>A (p.His676Asn) c.2122C>A (p.His708Asn) n.541C>A c.2083C>A (p.His695Asn) c.1915C>A (p.His639Asn) | |
| 21 | g.25891740A>C | CA409805453 | APP | c.2193T>G (p.Ile731Met) c.1968T>G (p.Ile656Met) c.1800T>G (p.Ile600Met) c.2136T>G (p.Ile712Met) c.2139T>G (p.Ile713Met) c.1863T>G (p.Ile621Met) c.2025T>G (p.Ile675Met) c.2121T>G (p.Ile707Met) n.540T>G c.2082T>G (p.Ile694Met) c.1914T>G (p.Ile638Met) | |
| 21 | g.25891740A>G | CA511685966 | APP | c.2193T>C (p.Ile731=) c.1968T>C (p.Ile656=) c.1800T>C (p.Ile600=) c.2136T>C (p.Ile712=) c.2139T>C (p.Ile713=) c.1863T>C (p.Ile621=) c.2025T>C (p.Ile675=) c.2121T>C (p.Ile707=) n.540T>C c.2082T>C (p.Ile694=) c.1914T>C (p.Ile638=) | |
| 21 | g.25891740A>T | CA511685967 | APP | c.2193T>A (p.Ile731=) c.1968T>A (p.Ile656=) c.1800T>A (p.Ile600=) c.2136T>A (p.Ile712=) c.2139T>A (p.Ile713=) c.1863T>A (p.Ile621=) c.2025T>A (p.Ile675=) c.2121T>A (p.Ile707=) n.540T>A c.2082T>A (p.Ile694=) c.1914T>A (p.Ile638=) | |
| 21 | g.25891741A>C | CA409805456 | APP | c.2192T>G (p.Ile731Ser) c.1967T>G (p.Ile656Ser) c.1799T>G (p.Ile600Ser) c.2135T>G (p.Ile712Ser) c.2138T>G (p.Ile713Ser) c.1862T>G (p.Ile621Ser) c.2024T>G (p.Ile675Ser) c.2120T>G (p.Ile707Ser) n.539T>G c.2081T>G (p.Ile694Ser) c.1913T>G (p.Ile638Ser) | |
| 21 | g.25891741A>G | CA409805454 | APP | c.2192T>C (p.Ile731Thr) c.1967T>C (p.Ile656Thr) c.1799T>C (p.Ile600Thr) c.2135T>C (p.Ile712Thr) c.2138T>C (p.Ile713Thr) c.1862T>C (p.Ile621Thr) c.2024T>C (p.Ile675Thr) c.2120T>C (p.Ile707Thr) n.539T>C c.2081T>C (p.Ile694Thr) c.1913T>C (p.Ile638Thr) | |
| 21 | g.25891741A>T | CA409805455 | APP | c.2192T>A (p.Ile731Asn) c.1967T>A (p.Ile656Asn) c.1799T>A (p.Ile600Asn) c.2135T>A (p.Ile712Asn) c.2138T>A (p.Ile713Asn) c.1862T>A (p.Ile621Asn) c.2024T>A (p.Ile675Asn) c.2120T>A (p.Ile707Asn) n.539T>A c.2081T>A (p.Ile694Asn) c.1913T>A (p.Ile638Asn) | |
| 21 | g.25891742T>A | CA409805457 | APP | c.2191A>T (p.Ile731Phe) c.1966A>T (p.Ile656Phe) c.1798A>T (p.Ile600Phe) c.2134A>T (p.Ile712Phe) c.2137A>T (p.Ile713Phe) c.1861A>T (p.Ile621Phe) c.2023A>T (p.Ile675Phe) c.2119A>T (p.Ile707Phe) n.538A>T c.2080A>T (p.Ile694Phe) c.1912A>T (p.Ile638Phe) | |
| 21 | g.25891742T>C | CA409805458 | APP | c.2191A>G (p.Ile731Val) c.1966A>G (p.Ile656Val) c.1798A>G (p.Ile600Val) c.2134A>G (p.Ile712Val) c.2137A>G (p.Ile713Val) c.1861A>G (p.Ile621Val) c.2023A>G (p.Ile675Val) c.2119A>G (p.Ile707Val) n.538A>G c.2080A>G (p.Ile694Val) c.1912A>G (p.Ile638Val) | |
| 21 | g.25891742T>G | CA409805459 | APP | c.2191A>C (p.Ile731Leu) c.1966A>C (p.Ile656Leu) c.1798A>C (p.Ile600Leu) c.2134A>C (p.Ile712Leu) c.2137A>C (p.Ile713Leu) c.1861A>C (p.Ile621Leu) c.2023A>C (p.Ile675Leu) c.2119A>C (p.Ile707Leu) n.538A>C c.2080A>C (p.Ile694Leu) c.1912A>C (p.Ile638Leu) | |
| 21 | g.25891743G>A | CA9987048 | APP | c.2190C>T (p.Ser730=) c.1965C>T (p.Ser655=) c.1797C>T (p.Ser599=) c.2133C>T (p.Ser711=) c.2136C>T (p.Ser712=) c.1860C>T (p.Ser620=) c.2022C>T (p.Ser674=) c.2118C>T (p.Ser706=) n.537C>T c.2079C>T (p.Ser693=) c.1911C>T (p.Ser637=) | dbSNP ExAC gnomAD |
| 21 | g.25891743G>C | CA319097554 | APP | c.2190C>G (p.Ser730=) c.1965C>G (p.Ser655=) c.1797C>G (p.Ser599=) c.2133C>G (p.Ser711=) c.2136C>G (p.Ser712=) c.1860C>G (p.Ser620=) c.2022C>G (p.Ser674=) c.2118C>G (p.Ser706=) n.537C>G c.2079C>G (p.Ser693=) c.1911C>G (p.Ser637=) | dbSNP |
| 21 | g.25891743G= | CA2383551601 | APP | c.2190C= (p.Ser730=) c.1965C= (p.Ser655=) c.1797C= (p.Ser599=) c.2133C= (p.Ser711=) c.2136C= (p.Ser712=) c.1860C= (p.Ser620=) c.2022C= (p.Ser674=) c.2118C= (p.Ser706=) n.537C= c.2079C= (p.Ser693=) c.1911C= (p.Ser637=) | |
| 21 | g.25891743G>T | CA511685968 | APP | c.2190C>A (p.Ser730=) c.1965C>A (p.Ser655=) c.1797C>A (p.Ser599=) c.2133C>A (p.Ser711=) c.2136C>A (p.Ser712=) c.1860C>A (p.Ser620=) c.2022C>A (p.Ser674=) c.2118C>A (p.Ser706=) n.537C>A c.2079C>A (p.Ser693=) c.1911C>A (p.Ser637=) | |
| 21 | g.25891744G>A | CA409805460 | APP | c.2189C>T (p.Ser730Phe) c.1964C>T (p.Ser655Phe) c.1796C>T (p.Ser599Phe) c.2132C>T (p.Ser711Phe) c.2135C>T (p.Ser712Phe) c.1859C>T (p.Ser620Phe) c.2021C>T (p.Ser674Phe) c.2117C>T (p.Ser706Phe) n.536C>T c.2078C>T (p.Ser693Phe) c.1910C>T (p.Ser637Phe) | |
| 21 | g.25891744G>C | CA409805462 | APP | c.2189C>G (p.Ser730Cys) c.1964C>G (p.Ser655Cys) c.1796C>G (p.Ser599Cys) c.2132C>G (p.Ser711Cys) c.2135C>G (p.Ser712Cys) c.1859C>G (p.Ser620Cys) c.2021C>G (p.Ser674Cys) c.2117C>G (p.Ser706Cys) n.536C>G c.2078C>G (p.Ser693Cys) c.1910C>G (p.Ser637Cys) | |
| 21 | g.25891744G>T | CA409805461 | APP | c.2189C>A (p.Ser730Tyr) c.1964C>A (p.Ser655Tyr) c.1796C>A (p.Ser599Tyr) c.2132C>A (p.Ser711Tyr) c.2135C>A (p.Ser712Tyr) c.1859C>A (p.Ser620Tyr) c.2021C>A (p.Ser674Tyr) c.2117C>A (p.Ser706Tyr) n.536C>A c.2078C>A (p.Ser693Tyr) c.1910C>A (p.Ser637Tyr) | |
| 21 | g.25891745A>C | CA409805463 | APP | c.2188T>G (p.Ser730Ala) c.1963T>G (p.Ser655Ala) c.1795T>G (p.Ser599Ala) c.2131T>G (p.Ser711Ala) c.2134T>G (p.Ser712Ala) c.1858T>G (p.Ser620Ala) c.2020T>G (p.Ser674Ala) c.2116T>G (p.Ser706Ala) n.535T>G c.2077T>G (p.Ser693Ala) c.1909T>G (p.Ser637Ala) | |
| 21 | g.25891745A>G | CA409805464 | APP | c.2188T>C (p.Ser730Pro) c.1963T>C (p.Ser655Pro) c.1795T>C (p.Ser599Pro) c.2131T>C (p.Ser711Pro) c.2134T>C (p.Ser712Pro) c.1858T>C (p.Ser620Pro) c.2020T>C (p.Ser674Pro) c.2116T>C (p.Ser706Pro) n.535T>C c.2077T>C (p.Ser693Pro) c.1909T>C (p.Ser637Pro) | |
| 21 | g.25891745A>T | CA409805465 | APP | c.2188T>A (p.Ser730Thr) c.1963T>A (p.Ser655Thr) c.1795T>A (p.Ser599Thr) c.2131T>A (p.Ser711Thr) c.2134T>A (p.Ser712Thr) c.1858T>A (p.Ser620Thr) c.2020T>A (p.Ser674Thr) c.2116T>A (p.Ser706Thr) n.535T>A c.2077T>A (p.Ser693Thr) c.1909T>A (p.Ser637Thr) | |
| 21 | g.25891746T>A | CA511685971 | APP | c.2187A>T (p.Thr729=) c.1962A>T (p.Thr654=) c.1794A>T (p.Thr598=) c.2130A>T (p.Thr710=) c.2133A>T (p.Thr711=) c.1857A>T (p.Thr619=) c.2019A>T (p.Thr673=) c.2115A>T (p.Thr705=) n.534A>T c.2076A>T (p.Thr692=) c.1908A>T (p.Thr636=) | |
| 21 | g.25891746T>C | CA511685969 | APP | c.2187A>G (p.Thr729=) c.1962A>G (p.Thr654=) c.1794A>G (p.Thr598=) c.2130A>G (p.Thr710=) c.2133A>G (p.Thr711=) c.1857A>G (p.Thr619=) c.2019A>G (p.Thr673=) c.2115A>G (p.Thr705=) n.534A>G c.2076A>G (p.Thr692=) c.1908A>G (p.Thr636=) | |
| 21 | g.25891746T>G | CA511685970 | APP | c.2187A>C (p.Thr729=) c.1962A>C (p.Thr654=) c.1794A>C (p.Thr598=) c.2130A>C (p.Thr710=) c.2133A>C (p.Thr711=) c.1857A>C (p.Thr619=) c.2019A>C (p.Thr673=) c.2115A>C (p.Thr705=) n.534A>C c.2076A>C (p.Thr692=) c.1908A>C (p.Thr636=) | |
| 21 | g.25891746T= | CA2383551602 | APP | c.2187A= (p.Thr729=) c.1962A= (p.Thr654=) c.1794A= (p.Thr598=) c.2130A= (p.Thr710=) c.2133A= (p.Thr711=) c.1857A= (p.Thr619=) c.2019A= (p.Thr673=) c.2115A= (p.Thr705=) n.534A= c.2076A= (p.Thr692=) c.1908A= (p.Thr636=) | |
| 21 | g.25891747G>A | CA409805466 | APP | c.2186C>T (p.Thr729Ile) c.1961C>T (p.Thr654Ile) c.1793C>T (p.Thr598Ile) c.2129C>T (p.Thr710Ile) c.2132C>T (p.Thr711Ile) c.1856C>T (p.Thr619Ile) c.2018C>T (p.Thr673Ile) c.2114C>T (p.Thr705Ile) n.533C>T c.2075C>T (p.Thr692Ile) c.1907C>T (p.Thr636Ile) | |
| 21 | g.25891747G>C | CA409805467 | APP | c.2186C>G (p.Thr729Arg) c.1961C>G (p.Thr654Arg) c.1793C>G (p.Thr598Arg) c.2129C>G (p.Thr710Arg) c.2132C>G (p.Thr711Arg) c.1856C>G (p.Thr619Arg) c.2018C>G (p.Thr673Arg) c.2114C>G (p.Thr705Arg) n.533C>G c.2075C>G (p.Thr692Arg) c.1907C>G (p.Thr636Arg) | |
| 21 | g.25891747G>T | CA409805468 | APP | c.2186C>A (p.Thr729Lys) c.1961C>A (p.Thr654Lys) c.1793C>A (p.Thr598Lys) c.2129C>A (p.Thr710Lys) c.2132C>A (p.Thr711Lys) c.1856C>A (p.Thr619Lys) c.2018C>A (p.Thr673Lys) c.2114C>A (p.Thr705Lys) n.533C>A c.2075C>A (p.Thr692Lys) c.1907C>A (p.Thr636Lys) | |
| 21 | g.25891748T>A | CA409805469 | APP | c.2185A>T (p.Thr729Ser) c.1960A>T (p.Thr654Ser) c.1792A>T (p.Thr598Ser) c.2128A>T (p.Thr710Ser) c.2131A>T (p.Thr711Ser) c.1855A>T (p.Thr619Ser) c.2017A>T (p.Thr673Ser) c.2113A>T (p.Thr705Ser) n.532A>T c.2074A>T (p.Thr692Ser) c.1906A>T (p.Thr636Ser) | |
| 21 | g.25891748T>C | CA409805470 | APP | c.2185A>G (p.Thr729Ala) c.1960A>G (p.Thr654Ala) c.1792A>G (p.Thr598Ala) c.2128A>G (p.Thr710Ala) c.2131A>G (p.Thr711Ala) c.1855A>G (p.Thr619Ala) c.2017A>G (p.Thr673Ala) c.2113A>G (p.Thr705Ala) n.532A>G c.2074A>G (p.Thr692Ala) c.1906A>G (p.Thr636Ala) | COSMIC |
| 21 | g.25891748T>G | CA409805471 | APP | c.2185A>C (p.Thr729Pro) c.1960A>C (p.Thr654Pro) c.1792A>C (p.Thr598Pro) c.2128A>C (p.Thr710Pro) c.2131A>C (p.Thr711Pro) c.1855A>C (p.Thr619Pro) c.2017A>C (p.Thr673Pro) c.2113A>C (p.Thr705Pro) n.532A>C c.2074A>C (p.Thr692Pro) c.1906A>C (p.Thr636Pro) | |
| 21 | g.25891749G>A | CA511685972 | APP | c.2184C>T (p.Tyr728=) c.1959C>T (p.Tyr653=) c.1791C>T (p.Tyr597=) c.2127C>T (p.Tyr709=) c.2130C>T (p.Tyr710=) c.1854C>T (p.Tyr618=) c.2016C>T (p.Tyr672=) c.2112C>T (p.Tyr704=) n.531C>T c.2073C>T (p.Tyr691=) c.1905C>T (p.Tyr635=) | |
| 21 | g.25891749G>C | CA409805472 | APP | c.2184C>G (p.Tyr728Ter) c.1959C>G (p.Tyr653Ter) c.1791C>G (p.Tyr597Ter) c.2127C>G (p.Tyr709Ter) c.2130C>G (p.Tyr710Ter) c.1854C>G (p.Tyr618Ter) c.2016C>G (p.Tyr672Ter) c.2112C>G (p.Tyr704Ter) n.531C>G c.2073C>G (p.Tyr691Ter) c.1905C>G (p.Tyr635Ter) | |
| 21 | g.25891749G>T | CA409805473 | APP | c.2184C>A (p.Tyr728Ter) c.1959C>A (p.Tyr653Ter) c.1791C>A (p.Tyr597Ter) c.2127C>A (p.Tyr709Ter) c.2130C>A (p.Tyr710Ter) c.1854C>A (p.Tyr618Ter) c.2016C>A (p.Tyr672Ter) c.2112C>A (p.Tyr704Ter) n.531C>A c.2073C>A (p.Tyr691Ter) c.1905C>A (p.Tyr635Ter) | |
| 21 | g.25891750T>A | CA409805474 | APP | c.2183A>T (p.Tyr728Phe) c.1958A>T (p.Tyr653Phe) c.1790A>T (p.Tyr597Phe) c.2126A>T (p.Tyr709Phe) c.2129A>T (p.Tyr710Phe) c.1853A>T (p.Tyr618Phe) c.2015A>T (p.Tyr672Phe) c.2111A>T (p.Tyr704Phe) n.530A>T c.2072A>T (p.Tyr691Phe) c.1904A>T (p.Tyr635Phe) | |
| 21 | g.25891750T>C | CA409805476 | APP | c.2183A>G (p.Tyr728Cys) c.1958A>G (p.Tyr653Cys) c.1790A>G (p.Tyr597Cys) c.2126A>G (p.Tyr709Cys) c.2129A>G (p.Tyr710Cys) c.1853A>G (p.Tyr618Cys) c.2015A>G (p.Tyr672Cys) c.2111A>G (p.Tyr704Cys) n.530A>G c.2072A>G (p.Tyr691Cys) c.1904A>G (p.Tyr635Cys) | |
| 21 | g.25891750T>G | CA409805475 | APP | c.2183A>C (p.Tyr728Ser) c.1958A>C (p.Tyr653Ser) c.1790A>C (p.Tyr597Ser) c.2126A>C (p.Tyr709Ser) c.2129A>C (p.Tyr710Ser) c.1853A>C (p.Tyr618Ser) c.2015A>C (p.Tyr672Ser) c.2111A>C (p.Tyr704Ser) n.530A>C c.2072A>C (p.Tyr691Ser) c.1904A>C (p.Tyr635Ser) | |
| 21 | g.25891751A>C | CA409805477 | APP | c.2182T>G (p.Tyr728Asp) c.1957T>G (p.Tyr653Asp) c.1789T>G (p.Tyr597Asp) c.2125T>G (p.Tyr709Asp) c.2128T>G (p.Tyr710Asp) c.1852T>G (p.Tyr618Asp) c.2014T>G (p.Tyr672Asp) c.2110T>G (p.Tyr704Asp) n.529T>G c.2071T>G (p.Tyr691Asp) c.1903T>G (p.Tyr635Asp) | |
| 21 | g.25891751A>G | CA409805478 | APP | c.2182T>C (p.Tyr728His) c.1957T>C (p.Tyr653His) c.1789T>C (p.Tyr597His) c.2125T>C (p.Tyr709His) c.2128T>C (p.Tyr710His) c.1852T>C (p.Tyr618His) c.2014T>C (p.Tyr672His) c.2110T>C (p.Tyr704His) n.529T>C c.2071T>C (p.Tyr691His) c.1903T>C (p.Tyr635His) | |
| 21 | g.25891751A>T | CA409805479 | APP | c.2182T>A (p.Tyr728Asn) c.1957T>A (p.Tyr653Asn) c.1789T>A (p.Tyr597Asn) c.2125T>A (p.Tyr709Asn) c.2128T>A (p.Tyr710Asn) c.1852T>A (p.Tyr618Asn) c.2014T>A (p.Tyr672Asn) c.2110T>A (p.Tyr704Asn) n.529T>A c.2071T>A (p.Tyr691Asn) c.1903T>A (p.Tyr635Asn) | |
| 21 | g.25891752C>A | CA409805480 | APP | c.2181G>T (p.Gln727His) c.1956G>T (p.Gln652His) c.1788G>T (p.Gln596His) c.2124G>T (p.Gln708His) c.2127G>T (p.Gln709His) c.1851G>T (p.Gln617His) c.2013G>T (p.Gln671His) c.2109G>T (p.Gln703His) n.528G>T c.2070G>T (p.Gln690His) c.1902G>T (p.Gln634His) | |
| 21 | g.25891752C>G | CA409805481 | APP | c.2181G>C (p.Gln727His) c.1956G>C (p.Gln652His) c.1788G>C (p.Gln596His) c.2124G>C (p.Gln708His) c.2127G>C (p.Gln709His) c.1851G>C (p.Gln617His) c.2013G>C (p.Gln671His) c.2109G>C (p.Gln703His) n.528G>C c.2070G>C (p.Gln690His) c.1902G>C (p.Gln634His) | |
| 21 | g.25891752C>T | CA511685973 | APP | c.2181G>A (p.Gln727=) c.1956G>A (p.Gln652=) c.1788G>A (p.Gln596=) c.2124G>A (p.Gln708=) c.2127G>A (p.Gln709=) c.1851G>A (p.Gln617=) c.2013G>A (p.Gln671=) c.2109G>A (p.Gln703=) n.528G>A c.2070G>A (p.Gln690=) c.1902G>A (p.Gln634=) | |
| 21 | g.25891753T>A | CA409805482 | APP | c.2180A>T (p.Gln727Leu) c.1955A>T (p.Gln652Leu) c.1787A>T (p.Gln596Leu) c.2123A>T (p.Gln708Leu) c.2126A>T (p.Gln709Leu) c.1850A>T (p.Gln617Leu) c.2012A>T (p.Gln671Leu) c.2108A>T (p.Gln703Leu) n.527A>T c.2069A>T (p.Gln690Leu) c.1901A>T (p.Gln634Leu) | COSMIC |
| 21 | g.25891753T>C | CA409805483 | APP | c.2180A>G (p.Gln727Arg) c.1955A>G (p.Gln652Arg) c.1787A>G (p.Gln596Arg) c.2123A>G (p.Gln708Arg) c.2126A>G (p.Gln709Arg) c.1850A>G (p.Gln617Arg) c.2012A>G (p.Gln671Arg) c.2108A>G (p.Gln703Arg) n.527A>G c.2069A>G (p.Gln690Arg) c.1901A>G (p.Gln634Arg) | |
| 21 | g.25891753T>G | CA409805484 | APP | c.2180A>C (p.Gln727Pro) c.1955A>C (p.Gln652Pro) c.1787A>C (p.Gln596Pro) c.2123A>C (p.Gln708Pro) c.2126A>C (p.Gln709Pro) c.1850A>C (p.Gln617Pro) c.2012A>C (p.Gln671Pro) c.2108A>C (p.Gln703Pro) n.527A>C c.2069A>C (p.Gln690Pro) c.1901A>C (p.Gln634Pro) |