| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.113287647G>A | CA145050 | ANK2 | c.2173G>A (p.Val725Met) c.2167G>A (p.Val723Met) n.5448G>A n.2329G>A n.2258G>A n.2134G>A n.1198G>A n.1119G>A c.2122G>A (p.Val708Met) c.2059G>A (p.Val687Met) c.2035G>A (p.Val679Met) c.1960G>A (p.Val654Met) c.2038G>A (p.Val680Met) c.1837G>A (p.Val613Met) c.1936G>A (p.Val646Met) c.2023G>A (p.Val675Met) c.1639G>A (p.Val547Met) c.1693G>A (p.Val565Met) c.1789G>A (p.Val597Met) c.2218G>A (p.Val740Met) c.2194G>A (p.Val732Met) c.2104G>A (p.Val702Met) c.2080G>A (p.Val694Met) c.1912G>A (p.Val638Met) c.1924G>A (p.Val642Met) c.2149G>A (p.Val717Met) c.2110G>A (p.Val704Met) c.1738G>A (p.Val580Met) c.2086G>A (p.Val696Met) | ClinVar dbSNP gnomAD v4 |
| 4 | g.113287647G>C | CA357915655 | ANK2 | c.2173G>C (p.Val725Leu) c.2167G>C (p.Val723Leu) n.5448G>C n.2329G>C n.2258G>C n.2134G>C n.1198G>C n.1119G>C c.2122G>C (p.Val708Leu) c.2059G>C (p.Val687Leu) c.2035G>C (p.Val679Leu) c.1960G>C (p.Val654Leu) c.2038G>C (p.Val680Leu) c.1837G>C (p.Val613Leu) c.1936G>C (p.Val646Leu) c.2023G>C (p.Val675Leu) c.1639G>C (p.Val547Leu) c.1693G>C (p.Val565Leu) c.1789G>C (p.Val597Leu) c.2218G>C (p.Val740Leu) c.2194G>C (p.Val732Leu) c.2104G>C (p.Val702Leu) c.2080G>C (p.Val694Leu) c.1912G>C (p.Val638Leu) c.1924G>C (p.Val642Leu) c.2149G>C (p.Val717Leu) c.2110G>C (p.Val704Leu) c.1738G>C (p.Val580Leu) c.2086G>C (p.Val696Leu) | |
| 4 | g.113287647G>T | CA357915658 | ANK2 | c.2173G>T (p.Val725Leu) c.2167G>T (p.Val723Leu) n.5448G>T n.2329G>T n.2258G>T n.2134G>T n.1198G>T n.1119G>T c.2122G>T (p.Val708Leu) c.2059G>T (p.Val687Leu) c.2035G>T (p.Val679Leu) c.1960G>T (p.Val654Leu) c.2038G>T (p.Val680Leu) c.1837G>T (p.Val613Leu) c.1936G>T (p.Val646Leu) c.2023G>T (p.Val675Leu) c.1639G>T (p.Val547Leu) c.1693G>T (p.Val565Leu) c.1789G>T (p.Val597Leu) c.2218G>T (p.Val740Leu) c.2194G>T (p.Val732Leu) c.2104G>T (p.Val702Leu) c.2080G>T (p.Val694Leu) c.1912G>T (p.Val638Leu) c.1924G>T (p.Val642Leu) c.2149G>T (p.Val717Leu) c.2110G>T (p.Val704Leu) c.1738G>T (p.Val580Leu) c.2086G>T (p.Val696Leu) | |
| 4 | g.113287648T>A | CA357915664 | ANK2 | c.2174T>A (p.Val725Glu) c.2168T>A (p.Val723Glu) n.5449T>A n.2330T>A n.2259T>A n.2135T>A n.1199T>A n.1120T>A c.2123T>A (p.Val708Glu) c.2060T>A (p.Val687Glu) c.2036T>A (p.Val679Glu) c.1961T>A (p.Val654Glu) c.2039T>A (p.Val680Glu) c.1838T>A (p.Val613Glu) c.1937T>A (p.Val646Glu) c.2024T>A (p.Val675Glu) c.1640T>A (p.Val547Glu) c.1694T>A (p.Val565Glu) c.1790T>A (p.Val597Glu) c.2219T>A (p.Val740Glu) c.2195T>A (p.Val732Glu) c.2105T>A (p.Val702Glu) c.2081T>A (p.Val694Glu) c.1913T>A (p.Val638Glu) c.1925T>A (p.Val642Glu) c.2150T>A (p.Val717Glu) c.2111T>A (p.Val704Glu) c.1739T>A (p.Val580Glu) c.2087T>A (p.Val696Glu) | gnomAD v4 |
| 4 | g.113287648T>C | CA357915663 | ANK2 | c.2174T>C (p.Val725Ala) c.2168T>C (p.Val723Ala) n.5449T>C n.2330T>C n.2259T>C n.2135T>C n.1199T>C n.1120T>C c.2123T>C (p.Val708Ala) c.2060T>C (p.Val687Ala) c.2036T>C (p.Val679Ala) c.1961T>C (p.Val654Ala) c.2039T>C (p.Val680Ala) c.1838T>C (p.Val613Ala) c.1937T>C (p.Val646Ala) c.2024T>C (p.Val675Ala) c.1640T>C (p.Val547Ala) c.1694T>C (p.Val565Ala) c.1790T>C (p.Val597Ala) c.2219T>C (p.Val740Ala) c.2195T>C (p.Val732Ala) c.2105T>C (p.Val702Ala) c.2081T>C (p.Val694Ala) c.1913T>C (p.Val638Ala) c.1925T>C (p.Val642Ala) c.2150T>C (p.Val717Ala) c.2111T>C (p.Val704Ala) c.1739T>C (p.Val580Ala) c.2087T>C (p.Val696Ala) | gnomAD v4 |
| 4 | g.113287648T>G | CA357915661 | ANK2 | c.2174T>G (p.Val725Gly) c.2168T>G (p.Val723Gly) n.5449T>G n.2330T>G n.2259T>G n.2135T>G n.1199T>G n.1120T>G c.2123T>G (p.Val708Gly) c.2060T>G (p.Val687Gly) c.2036T>G (p.Val679Gly) c.1961T>G (p.Val654Gly) c.2039T>G (p.Val680Gly) c.1838T>G (p.Val613Gly) c.1937T>G (p.Val646Gly) c.2024T>G (p.Val675Gly) c.1640T>G (p.Val547Gly) c.1694T>G (p.Val565Gly) c.1790T>G (p.Val597Gly) c.2219T>G (p.Val740Gly) c.2195T>G (p.Val732Gly) c.2105T>G (p.Val702Gly) c.2081T>G (p.Val694Gly) c.1913T>G (p.Val638Gly) c.1925T>G (p.Val642Gly) c.2150T>G (p.Val717Gly) c.2111T>G (p.Val704Gly) c.1739T>G (p.Val580Gly) c.2087T>G (p.Val696Gly) | |
| 4 | g.113287649G>A | CA440829624 | ANK2 | c.2175G>A (p.Val725=) c.2169G>A (p.Val723=) n.5450G>A n.2331G>A n.2260G>A n.2136G>A n.1200G>A n.1121G>A c.2124G>A (p.Val708=) c.2061G>A (p.Val687=) c.2037G>A (p.Val679=) c.1962G>A (p.Val654=) c.2040G>A (p.Val680=) c.1839G>A (p.Val613=) c.1938G>A (p.Val646=) c.2025G>A (p.Val675=) c.1641G>A (p.Val547=) c.1695G>A (p.Val565=) c.1791G>A (p.Val597=) c.2220G>A (p.Val740=) c.2196G>A (p.Val732=) c.2106G>A (p.Val702=) c.2082G>A (p.Val694=) c.1914G>A (p.Val638=) c.1926G>A (p.Val642=) c.2151G>A (p.Val717=) c.2112G>A (p.Val704=) c.1740G>A (p.Val580=) c.2088G>A (p.Val696=) | |
| 4 | g.113287649G>C | CA440829627 | ANK2 | c.2175G>C (p.Val725=) c.2169G>C (p.Val723=) n.5450G>C n.2331G>C n.2260G>C n.2136G>C n.1200G>C n.1121G>C c.2124G>C (p.Val708=) c.2061G>C (p.Val687=) c.2037G>C (p.Val679=) c.1962G>C (p.Val654=) c.2040G>C (p.Val680=) c.1839G>C (p.Val613=) c.1938G>C (p.Val646=) c.2025G>C (p.Val675=) c.1641G>C (p.Val547=) c.1695G>C (p.Val565=) c.1791G>C (p.Val597=) c.2220G>C (p.Val740=) c.2196G>C (p.Val732=) c.2106G>C (p.Val702=) c.2082G>C (p.Val694=) c.1914G>C (p.Val638=) c.1926G>C (p.Val642=) c.2151G>C (p.Val717=) c.2112G>C (p.Val704=) c.1740G>C (p.Val580=) c.2088G>C (p.Val696=) | |
| 4 | g.113287649G>T | CA103792140 | ANK2 | c.2175G>T (p.Val725=) c.2169G>T (p.Val723=) n.5450G>T n.2331G>T n.2260G>T n.2136G>T n.1200G>T n.1121G>T c.2124G>T (p.Val708=) c.2061G>T (p.Val687=) c.2037G>T (p.Val679=) c.1962G>T (p.Val654=) c.2040G>T (p.Val680=) c.1839G>T (p.Val613=) c.1938G>T (p.Val646=) c.2025G>T (p.Val675=) c.1641G>T (p.Val547=) c.1695G>T (p.Val565=) c.1791G>T (p.Val597=) c.2220G>T (p.Val740=) c.2196G>T (p.Val732=) c.2106G>T (p.Val702=) c.2082G>T (p.Val694=) c.1914G>T (p.Val638=) c.1926G>T (p.Val642=) c.2151G>T (p.Val717=) c.2112G>T (p.Val704=) c.1740G>T (p.Val580=) c.2088G>T (p.Val696=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.113287650A>C | CA357915665 | ANK2 | c.2176A>C (p.Asn726His) c.2170A>C (p.Asn724His) n.5451A>C n.2332A>C n.2261A>C n.2137A>C n.1201A>C n.1122A>C c.2125A>C (p.Asn709His) c.2062A>C (p.Asn688His) c.2038A>C (p.Asn680His) c.1963A>C (p.Asn655His) c.2041A>C (p.Asn681His) c.1840A>C (p.Asn614His) c.1939A>C (p.Asn647His) c.2026A>C (p.Asn676His) c.1642A>C (p.Asn548His) c.1696A>C (p.Asn566His) c.1792A>C (p.Asn598His) c.2221A>C (p.Asn741His) c.2197A>C (p.Asn733His) c.2107A>C (p.Asn703His) c.2083A>C (p.Asn695His) c.1915A>C (p.Asn639His) c.1927A>C (p.Asn643His) c.2152A>C (p.Asn718His) c.2113A>C (p.Asn705His) c.1741A>C (p.Asn581His) c.2089A>C (p.Asn697His) | |
| 4 | g.113287650A>G | CA357915666 | ANK2 | c.2176A>G (p.Asn726Asp) c.2170A>G (p.Asn724Asp) n.5451A>G n.2332A>G n.2261A>G n.2137A>G n.1201A>G n.1122A>G c.2125A>G (p.Asn709Asp) c.2062A>G (p.Asn688Asp) c.2038A>G (p.Asn680Asp) c.1963A>G (p.Asn655Asp) c.2041A>G (p.Asn681Asp) c.1840A>G (p.Asn614Asp) c.1939A>G (p.Asn647Asp) c.2026A>G (p.Asn676Asp) c.1642A>G (p.Asn548Asp) c.1696A>G (p.Asn566Asp) c.1792A>G (p.Asn598Asp) c.2221A>G (p.Asn741Asp) c.2197A>G (p.Asn733Asp) c.2107A>G (p.Asn703Asp) c.2083A>G (p.Asn695Asp) c.1915A>G (p.Asn639Asp) c.1927A>G (p.Asn643Asp) c.2152A>G (p.Asn718Asp) c.2113A>G (p.Asn705Asp) c.1741A>G (p.Asn581Asp) c.2089A>G (p.Asn697Asp) | |
| 4 | g.113287650A>T | CA357915667 | ANK2 | c.2176A>T (p.Asn726Tyr) c.2170A>T (p.Asn724Tyr) n.5451A>T n.2332A>T n.2261A>T n.2137A>T n.1201A>T n.1122A>T c.2125A>T (p.Asn709Tyr) c.2062A>T (p.Asn688Tyr) c.2038A>T (p.Asn680Tyr) c.1963A>T (p.Asn655Tyr) c.2041A>T (p.Asn681Tyr) c.1840A>T (p.Asn614Tyr) c.1939A>T (p.Asn647Tyr) c.2026A>T (p.Asn676Tyr) c.1642A>T (p.Asn548Tyr) c.1696A>T (p.Asn566Tyr) c.1792A>T (p.Asn598Tyr) c.2221A>T (p.Asn741Tyr) c.2197A>T (p.Asn733Tyr) c.2107A>T (p.Asn703Tyr) c.2083A>T (p.Asn695Tyr) c.1915A>T (p.Asn639Tyr) c.1927A>T (p.Asn643Tyr) c.2152A>T (p.Asn718Tyr) c.2113A>T (p.Asn705Tyr) c.1741A>T (p.Asn581Tyr) c.2089A>T (p.Asn697Tyr) | |
| 4 | g.113287651A>C | CA103792145 | ANK2 | c.2177A>C (p.Asn726Thr) c.2171A>C (p.Asn724Thr) n.5452A>C n.2333A>C n.2262A>C n.2138A>C n.1202A>C n.1123A>C c.2126A>C (p.Asn709Thr) c.2063A>C (p.Asn688Thr) c.2039A>C (p.Asn680Thr) c.1964A>C (p.Asn655Thr) c.2042A>C (p.Asn681Thr) c.1841A>C (p.Asn614Thr) c.1940A>C (p.Asn647Thr) c.2027A>C (p.Asn676Thr) c.1643A>C (p.Asn548Thr) c.1697A>C (p.Asn566Thr) c.1793A>C (p.Asn598Thr) c.2222A>C (p.Asn741Thr) c.2198A>C (p.Asn733Thr) c.2108A>C (p.Asn703Thr) c.2084A>C (p.Asn695Thr) c.1916A>C (p.Asn639Thr) c.1928A>C (p.Asn643Thr) c.2153A>C (p.Asn718Thr) c.2114A>C (p.Asn705Thr) c.1742A>C (p.Asn581Thr) c.2090A>C (p.Asn697Thr) | dbSNP gnomAD v4 |
| 4 | g.113287651A>G | CA357915670 | ANK2 | c.2177A>G (p.Asn726Ser) c.2171A>G (p.Asn724Ser) n.5452A>G n.2333A>G n.2262A>G n.2138A>G n.1202A>G n.1123A>G c.2126A>G (p.Asn709Ser) c.2063A>G (p.Asn688Ser) c.2039A>G (p.Asn680Ser) c.1964A>G (p.Asn655Ser) c.2042A>G (p.Asn681Ser) c.1841A>G (p.Asn614Ser) c.1940A>G (p.Asn647Ser) c.2027A>G (p.Asn676Ser) c.1643A>G (p.Asn548Ser) c.1697A>G (p.Asn566Ser) c.1793A>G (p.Asn598Ser) c.2222A>G (p.Asn741Ser) c.2198A>G (p.Asn733Ser) c.2108A>G (p.Asn703Ser) c.2084A>G (p.Asn695Ser) c.1916A>G (p.Asn639Ser) c.1928A>G (p.Asn643Ser) c.2153A>G (p.Asn718Ser) c.2114A>G (p.Asn705Ser) c.1742A>G (p.Asn581Ser) c.2090A>G (p.Asn697Ser) | |
| 4 | g.113287651A>T | CA357915673 | ANK2 | c.2177A>T (p.Asn726Ile) c.2171A>T (p.Asn724Ile) n.5452A>T n.2333A>T n.2262A>T n.2138A>T n.1202A>T n.1123A>T c.2126A>T (p.Asn709Ile) c.2063A>T (p.Asn688Ile) c.2039A>T (p.Asn680Ile) c.1964A>T (p.Asn655Ile) c.2042A>T (p.Asn681Ile) c.1841A>T (p.Asn614Ile) c.1940A>T (p.Asn647Ile) c.2027A>T (p.Asn676Ile) c.1643A>T (p.Asn548Ile) c.1697A>T (p.Asn566Ile) c.1793A>T (p.Asn598Ile) c.2222A>T (p.Asn741Ile) c.2198A>T (p.Asn733Ile) c.2108A>T (p.Asn703Ile) c.2084A>T (p.Asn695Ile) c.1916A>T (p.Asn639Ile) c.1928A>T (p.Asn643Ile) c.2153A>T (p.Asn718Ile) c.2114A>T (p.Asn705Ile) c.1742A>T (p.Asn581Ile) c.2090A>T (p.Asn697Ile) | |
| 4 | g.113287652T>A | CA357915675 | ANK2 | c.2178T>A (p.Asn726Lys) c.2172T>A (p.Asn724Lys) n.5453T>A n.2334T>A n.2263T>A n.2139T>A n.1203T>A n.1124T>A c.2127T>A (p.Asn709Lys) c.2064T>A (p.Asn688Lys) c.2040T>A (p.Asn680Lys) c.1965T>A (p.Asn655Lys) c.2043T>A (p.Asn681Lys) c.1842T>A (p.Asn614Lys) c.1941T>A (p.Asn647Lys) c.2028T>A (p.Asn676Lys) c.1644T>A (p.Asn548Lys) c.1698T>A (p.Asn566Lys) c.1794T>A (p.Asn598Lys) c.2223T>A (p.Asn741Lys) c.2199T>A (p.Asn733Lys) c.2109T>A (p.Asn703Lys) c.2085T>A (p.Asn695Lys) c.1917T>A (p.Asn639Lys) c.1929T>A (p.Asn643Lys) c.2154T>A (p.Asn718Lys) c.2115T>A (p.Asn705Lys) c.1743T>A (p.Asn581Lys) c.2091T>A (p.Asn697Lys) | |
| 4 | g.113287652T>C | CA3050457 | ANK2 | c.2178T>C (p.Asn726=) c.2172T>C (p.Asn724=) n.5453T>C n.2334T>C n.2263T>C n.2139T>C n.1203T>C n.1124T>C c.2127T>C (p.Asn709=) c.2064T>C (p.Asn688=) c.2040T>C (p.Asn680=) c.1965T>C (p.Asn655=) c.2043T>C (p.Asn681=) c.1842T>C (p.Asn614=) c.1941T>C (p.Asn647=) c.2028T>C (p.Asn676=) c.1644T>C (p.Asn548=) c.1698T>C (p.Asn566=) c.1794T>C (p.Asn598=) c.2223T>C (p.Asn741=) c.2199T>C (p.Asn733=) c.2109T>C (p.Asn703=) c.2085T>C (p.Asn695=) c.1917T>C (p.Asn639=) c.1929T>C (p.Asn643=) c.2154T>C (p.Asn718=) c.2115T>C (p.Asn705=) c.1743T>C (p.Asn581=) c.2091T>C (p.Asn697=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 4 | g.113287652T>G | CA357915677 | ANK2 | c.2178T>G (p.Asn726Lys) c.2172T>G (p.Asn724Lys) n.5453T>G n.2334T>G n.2263T>G n.2139T>G n.1203T>G n.1124T>G c.2127T>G (p.Asn709Lys) c.2064T>G (p.Asn688Lys) c.2040T>G (p.Asn680Lys) c.1965T>G (p.Asn655Lys) c.2043T>G (p.Asn681Lys) c.1842T>G (p.Asn614Lys) c.1941T>G (p.Asn647Lys) c.2028T>G (p.Asn676Lys) c.1644T>G (p.Asn548Lys) c.1698T>G (p.Asn566Lys) c.1794T>G (p.Asn598Lys) c.2223T>G (p.Asn741Lys) c.2199T>G (p.Asn733Lys) c.2109T>G (p.Asn703Lys) c.2085T>G (p.Asn695Lys) c.1917T>G (p.Asn639Lys) c.1929T>G (p.Asn643Lys) c.2154T>G (p.Asn718Lys) c.2115T>G (p.Asn705Lys) c.1743T>G (p.Asn581Lys) c.2091T>G (p.Asn697Lys) | gnomAD v4 |
| 4 | g.113287653G>A | CA3050458 | ANK2 | c.2179G>A (p.Val727Ile) c.2173G>A (p.Val725Ile) n.5454G>A n.2335G>A n.2264G>A n.2140G>A n.1204G>A n.1125G>A c.2128G>A (p.Val710Ile) c.2065G>A (p.Val689Ile) c.2041G>A (p.Val681Ile) c.1966G>A (p.Val656Ile) c.2044G>A (p.Val682Ile) c.1843G>A (p.Val615Ile) c.1942G>A (p.Val648Ile) c.2029G>A (p.Val677Ile) c.1645G>A (p.Val549Ile) c.1699G>A (p.Val567Ile) c.1795G>A (p.Val599Ile) c.2224G>A (p.Val742Ile) c.2200G>A (p.Val734Ile) c.2110G>A (p.Val704Ile) c.2086G>A (p.Val696Ile) c.1918G>A (p.Val640Ile) c.1930G>A (p.Val644Ile) c.2155G>A (p.Val719Ile) c.2116G>A (p.Val706Ile) c.1744G>A (p.Val582Ile) c.2092G>A (p.Val698Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.113287653G>C | CA357915678 | ANK2 | c.2179G>C (p.Val727Leu) c.2173G>C (p.Val725Leu) n.5454G>C n.2335G>C n.2264G>C n.2140G>C n.1204G>C n.1125G>C c.2128G>C (p.Val710Leu) c.2065G>C (p.Val689Leu) c.2041G>C (p.Val681Leu) c.1966G>C (p.Val656Leu) c.2044G>C (p.Val682Leu) c.1843G>C (p.Val615Leu) c.1942G>C (p.Val648Leu) c.2029G>C (p.Val677Leu) c.1645G>C (p.Val549Leu) c.1699G>C (p.Val567Leu) c.1795G>C (p.Val599Leu) c.2224G>C (p.Val742Leu) c.2200G>C (p.Val734Leu) c.2110G>C (p.Val704Leu) c.2086G>C (p.Val696Leu) c.1918G>C (p.Val640Leu) c.1930G>C (p.Val644Leu) c.2155G>C (p.Val719Leu) c.2116G>C (p.Val706Leu) c.1744G>C (p.Val582Leu) c.2092G>C (p.Val698Leu) | |
| 4 | g.113287653G>T | CA357915679 | ANK2 | c.2179G>T (p.Val727Phe) c.2173G>T (p.Val725Phe) n.5454G>T n.2335G>T n.2264G>T n.2140G>T n.1204G>T n.1125G>T c.2128G>T (p.Val710Phe) c.2065G>T (p.Val689Phe) c.2041G>T (p.Val681Phe) c.1966G>T (p.Val656Phe) c.2044G>T (p.Val682Phe) c.1843G>T (p.Val615Phe) c.1942G>T (p.Val648Phe) c.2029G>T (p.Val677Phe) c.1645G>T (p.Val549Phe) c.1699G>T (p.Val567Phe) c.1795G>T (p.Val599Phe) c.2224G>T (p.Val742Phe) c.2200G>T (p.Val734Phe) c.2110G>T (p.Val704Phe) c.2086G>T (p.Val696Phe) c.1918G>T (p.Val640Phe) c.1930G>T (p.Val644Phe) c.2155G>T (p.Val719Phe) c.2116G>T (p.Val706Phe) c.1744G>T (p.Val582Phe) c.2092G>T (p.Val698Phe) | |
| 4 | g.113287654T>A | CA357915689 | ANK2 | c.2180T>A (p.Val727Asp) c.2174T>A (p.Val725Asp) n.5455T>A n.2336T>A n.2265T>A n.2141T>A n.1205T>A n.1126T>A c.2129T>A (p.Val710Asp) c.2066T>A (p.Val689Asp) c.2042T>A (p.Val681Asp) c.1967T>A (p.Val656Asp) c.2045T>A (p.Val682Asp) c.1844T>A (p.Val615Asp) c.1943T>A (p.Val648Asp) c.2030T>A (p.Val677Asp) c.1646T>A (p.Val549Asp) c.1700T>A (p.Val567Asp) c.1796T>A (p.Val599Asp) c.2225T>A (p.Val742Asp) c.2201T>A (p.Val734Asp) c.2111T>A (p.Val704Asp) c.2087T>A (p.Val696Asp) c.1919T>A (p.Val640Asp) c.1931T>A (p.Val644Asp) c.2156T>A (p.Val719Asp) c.2117T>A (p.Val706Asp) c.1745T>A (p.Val582Asp) c.2093T>A (p.Val698Asp) | |
| 4 | g.113287654T>C | CA357915682 | ANK2 | c.2180T>C (p.Val727Ala) c.2174T>C (p.Val725Ala) n.5455T>C n.2336T>C n.2265T>C n.2141T>C n.1205T>C n.1126T>C c.2129T>C (p.Val710Ala) c.2066T>C (p.Val689Ala) c.2042T>C (p.Val681Ala) c.1967T>C (p.Val656Ala) c.2045T>C (p.Val682Ala) c.1844T>C (p.Val615Ala) c.1943T>C (p.Val648Ala) c.2030T>C (p.Val677Ala) c.1646T>C (p.Val549Ala) c.1700T>C (p.Val567Ala) c.1796T>C (p.Val599Ala) c.2225T>C (p.Val742Ala) c.2201T>C (p.Val734Ala) c.2111T>C (p.Val704Ala) c.2087T>C (p.Val696Ala) c.1919T>C (p.Val640Ala) c.1931T>C (p.Val644Ala) c.2156T>C (p.Val719Ala) c.2117T>C (p.Val706Ala) c.1745T>C (p.Val582Ala) c.2093T>C (p.Val698Ala) | |
| 4 | g.113287654T>G | CA357915680 | ANK2 | c.2180T>G (p.Val727Gly) c.2174T>G (p.Val725Gly) n.5455T>G n.2336T>G n.2265T>G n.2141T>G n.1205T>G n.1126T>G c.2129T>G (p.Val710Gly) c.2066T>G (p.Val689Gly) c.2042T>G (p.Val681Gly) c.1967T>G (p.Val656Gly) c.2045T>G (p.Val682Gly) c.1844T>G (p.Val615Gly) c.1943T>G (p.Val648Gly) c.2030T>G (p.Val677Gly) c.1646T>G (p.Val549Gly) c.1700T>G (p.Val567Gly) c.1796T>G (p.Val599Gly) c.2225T>G (p.Val742Gly) c.2201T>G (p.Val734Gly) c.2111T>G (p.Val704Gly) c.2087T>G (p.Val696Gly) c.1919T>G (p.Val640Gly) c.1931T>G (p.Val644Gly) c.2156T>G (p.Val719Gly) c.2117T>G (p.Val706Gly) c.1745T>G (p.Val582Gly) c.2093T>G (p.Val698Gly) | |
| 4 | g.113287655T>A | CA440829635 | ANK2 | c.2181T>A (p.Val727=) c.2175T>A (p.Val725=) n.5456T>A n.2337T>A n.2266T>A n.2142T>A n.1206T>A n.1127T>A c.2130T>A (p.Val710=) c.2067T>A (p.Val689=) c.2043T>A (p.Val681=) c.1968T>A (p.Val656=) c.2046T>A (p.Val682=) c.1845T>A (p.Val615=) c.1944T>A (p.Val648=) c.2031T>A (p.Val677=) c.1647T>A (p.Val549=) c.1701T>A (p.Val567=) c.1797T>A (p.Val599=) c.2226T>A (p.Val742=) c.2202T>A (p.Val734=) c.2112T>A (p.Val704=) c.2088T>A (p.Val696=) c.1920T>A (p.Val640=) c.1932T>A (p.Val644=) c.2157T>A (p.Val719=) c.2118T>A (p.Val706=) c.1746T>A (p.Val582=) c.2094T>A (p.Val698=) | |
| 4 | g.113287655T>C | CA440829636 | ANK2 | c.2181T>C (p.Val727=) c.2175T>C (p.Val725=) n.5456T>C n.2337T>C n.2266T>C n.2142T>C n.1206T>C n.1127T>C c.2130T>C (p.Val710=) c.2067T>C (p.Val689=) c.2043T>C (p.Val681=) c.1968T>C (p.Val656=) c.2046T>C (p.Val682=) c.1845T>C (p.Val615=) c.1944T>C (p.Val648=) c.2031T>C (p.Val677=) c.1647T>C (p.Val549=) c.1701T>C (p.Val567=) c.1797T>C (p.Val599=) c.2226T>C (p.Val742=) c.2202T>C (p.Val734=) c.2112T>C (p.Val704=) c.2088T>C (p.Val696=) c.1920T>C (p.Val640=) c.1932T>C (p.Val644=) c.2157T>C (p.Val719=) c.2118T>C (p.Val706=) c.1746T>C (p.Val582=) c.2094T>C (p.Val698=) | |
| 4 | g.113287655T>G | CA440829637 | ANK2 | c.2181T>G (p.Val727=) c.2175T>G (p.Val725=) n.5456T>G n.2337T>G n.2266T>G n.2142T>G n.1206T>G n.1127T>G c.2130T>G (p.Val710=) c.2067T>G (p.Val689=) c.2043T>G (p.Val681=) c.1968T>G (p.Val656=) c.2046T>G (p.Val682=) c.1845T>G (p.Val615=) c.1944T>G (p.Val648=) c.2031T>G (p.Val677=) c.1647T>G (p.Val549=) c.1701T>G (p.Val567=) c.1797T>G (p.Val599=) c.2226T>G (p.Val742=) c.2202T>G (p.Val734=) c.2112T>G (p.Val704=) c.2088T>G (p.Val696=) c.1920T>G (p.Val640=) c.1932T>G (p.Val644=) c.2157T>G (p.Val719=) c.2118T>G (p.Val706=) c.1746T>G (p.Val582=) c.2094T>G (p.Val698=) | |
| 4 | g.113287656G>A | CA357915692 | ANK2 | c.2182G>A (p.Ala728Thr) c.2176G>A (p.Ala726Thr) n.5457G>A n.2338G>A n.2267G>A n.2143G>A n.1207G>A n.1128G>A c.2131G>A (p.Ala711Thr) c.2068G>A (p.Ala690Thr) c.2044G>A (p.Ala682Thr) c.1969G>A (p.Ala657Thr) c.2047G>A (p.Ala683Thr) c.1846G>A (p.Ala616Thr) c.1945G>A (p.Ala649Thr) c.2032G>A (p.Ala678Thr) c.1648G>A (p.Ala550Thr) c.1702G>A (p.Ala568Thr) c.1798G>A (p.Ala600Thr) c.2227G>A (p.Ala743Thr) c.2203G>A (p.Ala735Thr) c.2113G>A (p.Ala705Thr) c.2089G>A (p.Ala697Thr) c.1921G>A (p.Ala641Thr) c.1933G>A (p.Ala645Thr) c.2158G>A (p.Ala720Thr) c.2119G>A (p.Ala707Thr) c.1747G>A (p.Ala583Thr) c.2095G>A (p.Ala699Thr) | |
| 4 | g.113287656G>C | CA357915693 | ANK2 | c.2182G>C (p.Ala728Pro) c.2176G>C (p.Ala726Pro) n.5457G>C n.2338G>C n.2267G>C n.2143G>C n.1207G>C n.1128G>C c.2131G>C (p.Ala711Pro) c.2068G>C (p.Ala690Pro) c.2044G>C (p.Ala682Pro) c.1969G>C (p.Ala657Pro) c.2047G>C (p.Ala683Pro) c.1846G>C (p.Ala616Pro) c.1945G>C (p.Ala649Pro) c.2032G>C (p.Ala678Pro) c.1648G>C (p.Ala550Pro) c.1702G>C (p.Ala568Pro) c.1798G>C (p.Ala600Pro) c.2227G>C (p.Ala743Pro) c.2203G>C (p.Ala735Pro) c.2113G>C (p.Ala705Pro) c.2089G>C (p.Ala697Pro) c.1921G>C (p.Ala641Pro) c.1933G>C (p.Ala645Pro) c.2158G>C (p.Ala720Pro) c.2119G>C (p.Ala707Pro) c.1747G>C (p.Ala583Pro) c.2095G>C (p.Ala699Pro) | |
| 4 | g.113287656G>T | CA357915694 | ANK2 | c.2182G>T (p.Ala728Ser) c.2176G>T (p.Ala726Ser) n.5457G>T n.2338G>T n.2267G>T n.2143G>T n.1207G>T n.1128G>T c.2131G>T (p.Ala711Ser) c.2068G>T (p.Ala690Ser) c.2044G>T (p.Ala682Ser) c.1969G>T (p.Ala657Ser) c.2047G>T (p.Ala683Ser) c.1846G>T (p.Ala616Ser) c.1945G>T (p.Ala649Ser) c.2032G>T (p.Ala678Ser) c.1648G>T (p.Ala550Ser) c.1702G>T (p.Ala568Ser) c.1798G>T (p.Ala600Ser) c.2227G>T (p.Ala743Ser) c.2203G>T (p.Ala735Ser) c.2113G>T (p.Ala705Ser) c.2089G>T (p.Ala697Ser) c.1921G>T (p.Ala641Ser) c.1933G>T (p.Ala645Ser) c.2158G>T (p.Ala720Ser) c.2119G>T (p.Ala707Ser) c.1747G>T (p.Ala583Ser) c.2095G>T (p.Ala699Ser) | |
| 4 | g.113287657C>A | CA357915696 | ANK2 | c.2183C>A (p.Ala728Asp) c.2177C>A (p.Ala726Asp) n.5458C>A n.2339C>A n.2268C>A n.2144C>A n.1208C>A n.1129C>A c.2132C>A (p.Ala711Asp) c.2069C>A (p.Ala690Asp) c.2045C>A (p.Ala682Asp) c.1970C>A (p.Ala657Asp) c.2048C>A (p.Ala683Asp) c.1847C>A (p.Ala616Asp) c.1946C>A (p.Ala649Asp) c.2033C>A (p.Ala678Asp) c.1649C>A (p.Ala550Asp) c.1703C>A (p.Ala568Asp) c.1799C>A (p.Ala600Asp) c.2228C>A (p.Ala743Asp) c.2204C>A (p.Ala735Asp) c.2114C>A (p.Ala705Asp) c.2090C>A (p.Ala697Asp) c.1922C>A (p.Ala641Asp) c.1934C>A (p.Ala645Asp) c.2159C>A (p.Ala720Asp) c.2120C>A (p.Ala707Asp) c.1748C>A (p.Ala583Asp) c.2096C>A (p.Ala699Asp) | |
| 4 | g.113287657C>G | CA357915697 | ANK2 | c.2183C>G (p.Ala728Gly) c.2177C>G (p.Ala726Gly) n.5458C>G n.2339C>G n.2268C>G n.2144C>G n.1208C>G n.1129C>G c.2132C>G (p.Ala711Gly) c.2069C>G (p.Ala690Gly) c.2045C>G (p.Ala682Gly) c.1970C>G (p.Ala657Gly) c.2048C>G (p.Ala683Gly) c.1847C>G (p.Ala616Gly) c.1946C>G (p.Ala649Gly) c.2033C>G (p.Ala678Gly) c.1649C>G (p.Ala550Gly) c.1703C>G (p.Ala568Gly) c.1799C>G (p.Ala600Gly) c.2228C>G (p.Ala743Gly) c.2204C>G (p.Ala735Gly) c.2114C>G (p.Ala705Gly) c.2090C>G (p.Ala697Gly) c.1922C>G (p.Ala641Gly) c.1934C>G (p.Ala645Gly) c.2159C>G (p.Ala720Gly) c.2120C>G (p.Ala707Gly) c.1748C>G (p.Ala583Gly) c.2096C>G (p.Ala699Gly) | |
| 4 | g.113287657C>T | CA357915698 | ANK2 | c.2183C>T (p.Ala728Val) c.2177C>T (p.Ala726Val) n.5458C>T n.2339C>T n.2268C>T n.2144C>T n.1208C>T n.1129C>T c.2132C>T (p.Ala711Val) c.2069C>T (p.Ala690Val) c.2045C>T (p.Ala682Val) c.1970C>T (p.Ala657Val) c.2048C>T (p.Ala683Val) c.1847C>T (p.Ala616Val) c.1946C>T (p.Ala649Val) c.2033C>T (p.Ala678Val) c.1649C>T (p.Ala550Val) c.1703C>T (p.Ala568Val) c.1799C>T (p.Ala600Val) c.2228C>T (p.Ala743Val) c.2204C>T (p.Ala735Val) c.2114C>T (p.Ala705Val) c.2090C>T (p.Ala697Val) c.1922C>T (p.Ala641Val) c.1934C>T (p.Ala645Val) c.2159C>T (p.Ala720Val) c.2120C>T (p.Ala707Val) c.1748C>T (p.Ala583Val) c.2096C>T (p.Ala699Val) | |
| 4 | g.113287658T>A | CA440829639 | ANK2 | c.2184T>A (p.Ala728=) c.2178T>A (p.Ala726=) n.5459T>A n.2340T>A n.2269T>A n.2145T>A n.1209T>A n.1130T>A c.2133T>A (p.Ala711=) c.2070T>A (p.Ala690=) c.2046T>A (p.Ala682=) c.1971T>A (p.Ala657=) c.2049T>A (p.Ala683=) c.1848T>A (p.Ala616=) c.1947T>A (p.Ala649=) c.2034T>A (p.Ala678=) c.1650T>A (p.Ala550=) c.1704T>A (p.Ala568=) c.1800T>A (p.Ala600=) c.2229T>A (p.Ala743=) c.2205T>A (p.Ala735=) c.2115T>A (p.Ala705=) c.2091T>A (p.Ala697=) c.1923T>A (p.Ala641=) c.1935T>A (p.Ala645=) c.2160T>A (p.Ala720=) c.2121T>A (p.Ala707=) c.1749T>A (p.Ala583=) c.2097T>A (p.Ala699=) | |
| 4 | g.113287658T>C | CA440829640 | ANK2 | c.2184T>C (p.Ala728=) c.2178T>C (p.Ala726=) n.5459T>C n.2340T>C n.2269T>C n.2145T>C n.1209T>C n.1130T>C c.2133T>C (p.Ala711=) c.2070T>C (p.Ala690=) c.2046T>C (p.Ala682=) c.1971T>C (p.Ala657=) c.2049T>C (p.Ala683=) c.1848T>C (p.Ala616=) c.1947T>C (p.Ala649=) c.2034T>C (p.Ala678=) c.1650T>C (p.Ala550=) c.1704T>C (p.Ala568=) c.1800T>C (p.Ala600=) c.2229T>C (p.Ala743=) c.2205T>C (p.Ala735=) c.2115T>C (p.Ala705=) c.2091T>C (p.Ala697=) c.1923T>C (p.Ala641=) c.1935T>C (p.Ala645=) c.2160T>C (p.Ala720=) c.2121T>C (p.Ala707=) c.1749T>C (p.Ala583=) c.2097T>C (p.Ala699=) | |
| 4 | g.113287658T>G | CA440829641 | ANK2 | c.2184T>G (p.Ala728=) c.2178T>G (p.Ala726=) n.5459T>G n.2340T>G n.2269T>G n.2145T>G n.1209T>G n.1130T>G c.2133T>G (p.Ala711=) c.2070T>G (p.Ala690=) c.2046T>G (p.Ala682=) c.1971T>G (p.Ala657=) c.2049T>G (p.Ala683=) c.1848T>G (p.Ala616=) c.1947T>G (p.Ala649=) c.2034T>G (p.Ala678=) c.1650T>G (p.Ala550=) c.1704T>G (p.Ala568=) c.1800T>G (p.Ala600=) c.2229T>G (p.Ala743=) c.2205T>G (p.Ala735=) c.2115T>G (p.Ala705=) c.2091T>G (p.Ala697=) c.1923T>G (p.Ala641=) c.1935T>G (p.Ala645=) c.2160T>G (p.Ala720=) c.2121T>G (p.Ala707=) c.1749T>G (p.Ala583=) c.2097T>G (p.Ala699=) | |
| 4 | g.113287659G>A | CA357915704 | ANK2 | c.2185G>A (p.Asp729Asn) c.2179G>A (p.Asp727Asn) n.5460G>A n.2341G>A n.2270G>A n.2146G>A n.1210G>A n.1131G>A c.2134G>A (p.Asp712Asn) c.2071G>A (p.Asp691Asn) c.2047G>A (p.Asp683Asn) c.1972G>A (p.Asp658Asn) c.2050G>A (p.Asp684Asn) c.1849G>A (p.Asp617Asn) c.1948G>A (p.Asp650Asn) c.2035G>A (p.Asp679Asn) c.1651G>A (p.Asp551Asn) c.1705G>A (p.Asp569Asn) c.1801G>A (p.Asp601Asn) c.2230G>A (p.Asp744Asn) c.2206G>A (p.Asp736Asn) c.2116G>A (p.Asp706Asn) c.2092G>A (p.Asp698Asn) c.1924G>A (p.Asp642Asn) c.1936G>A (p.Asp646Asn) c.2161G>A (p.Asp721Asn) c.2122G>A (p.Asp708Asn) c.1750G>A (p.Asp584Asn) c.2098G>A (p.Asp700Asn) | |
| 4 | g.113287659G>C | CA357915700 | ANK2 | c.2185G>C (p.Asp729His) c.2179G>C (p.Asp727His) n.5460G>C n.2341G>C n.2270G>C n.2146G>C n.1210G>C n.1131G>C c.2134G>C (p.Asp712His) c.2071G>C (p.Asp691His) c.2047G>C (p.Asp683His) c.1972G>C (p.Asp658His) c.2050G>C (p.Asp684His) c.1849G>C (p.Asp617His) c.1948G>C (p.Asp650His) c.2035G>C (p.Asp679His) c.1651G>C (p.Asp551His) c.1705G>C (p.Asp569His) c.1801G>C (p.Asp601His) c.2230G>C (p.Asp744His) c.2206G>C (p.Asp736His) c.2116G>C (p.Asp706His) c.2092G>C (p.Asp698His) c.1924G>C (p.Asp642His) c.1936G>C (p.Asp646His) c.2161G>C (p.Asp721His) c.2122G>C (p.Asp708His) c.1750G>C (p.Asp584His) c.2098G>C (p.Asp700His) | |
| 4 | g.113287659G>T | CA357915702 | ANK2 | c.2185G>T (p.Asp729Tyr) c.2179G>T (p.Asp727Tyr) n.5460G>T n.2341G>T n.2270G>T n.2146G>T n.1210G>T n.1131G>T c.2134G>T (p.Asp712Tyr) c.2071G>T (p.Asp691Tyr) c.2047G>T (p.Asp683Tyr) c.1972G>T (p.Asp658Tyr) c.2050G>T (p.Asp684Tyr) c.1849G>T (p.Asp617Tyr) c.1948G>T (p.Asp650Tyr) c.2035G>T (p.Asp679Tyr) c.1651G>T (p.Asp551Tyr) c.1705G>T (p.Asp569Tyr) c.1801G>T (p.Asp601Tyr) c.2230G>T (p.Asp744Tyr) c.2206G>T (p.Asp736Tyr) c.2116G>T (p.Asp706Tyr) c.2092G>T (p.Asp698Tyr) c.1924G>T (p.Asp642Tyr) c.1936G>T (p.Asp646Tyr) c.2161G>T (p.Asp721Tyr) c.2122G>T (p.Asp708Tyr) c.1750G>T (p.Asp584Tyr) c.2098G>T (p.Asp700Tyr) | |
| 4 | g.113287660A>C | CA357915706 | ANK2 | c.2186A>C (p.Asp729Ala) c.2180A>C (p.Asp727Ala) n.5461A>C n.2342A>C n.2271A>C n.2147A>C n.1211A>C n.1132A>C c.2135A>C (p.Asp712Ala) c.2072A>C (p.Asp691Ala) c.2048A>C (p.Asp683Ala) c.1973A>C (p.Asp658Ala) c.2051A>C (p.Asp684Ala) c.1850A>C (p.Asp617Ala) c.1949A>C (p.Asp650Ala) c.2036A>C (p.Asp679Ala) c.1652A>C (p.Asp551Ala) c.1706A>C (p.Asp569Ala) c.1802A>C (p.Asp601Ala) c.2231A>C (p.Asp744Ala) c.2207A>C (p.Asp736Ala) c.2117A>C (p.Asp706Ala) c.2093A>C (p.Asp698Ala) c.1925A>C (p.Asp642Ala) c.1937A>C (p.Asp646Ala) c.2162A>C (p.Asp721Ala) c.2123A>C (p.Asp708Ala) c.1751A>C (p.Asp584Ala) c.2099A>C (p.Asp700Ala) | |
| 4 | g.113287660A>G | CA3050459 | ANK2 | c.2186A>G (p.Asp729Gly) c.2180A>G (p.Asp727Gly) n.5461A>G n.2342A>G n.2271A>G n.2147A>G n.1211A>G n.1132A>G c.2135A>G (p.Asp712Gly) c.2072A>G (p.Asp691Gly) c.2048A>G (p.Asp683Gly) c.1973A>G (p.Asp658Gly) c.2051A>G (p.Asp684Gly) c.1850A>G (p.Asp617Gly) c.1949A>G (p.Asp650Gly) c.2036A>G (p.Asp679Gly) c.1652A>G (p.Asp551Gly) c.1706A>G (p.Asp569Gly) c.1802A>G (p.Asp601Gly) c.2231A>G (p.Asp744Gly) c.2207A>G (p.Asp736Gly) c.2117A>G (p.Asp706Gly) c.2093A>G (p.Asp698Gly) c.1925A>G (p.Asp642Gly) c.1937A>G (p.Asp646Gly) c.2162A>G (p.Asp721Gly) c.2123A>G (p.Asp708Gly) c.1751A>G (p.Asp584Gly) c.2099A>G (p.Asp700Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.113287660A>T | CA357915710 | ANK2 | c.2186A>T (p.Asp729Val) c.2180A>T (p.Asp727Val) n.5461A>T n.2342A>T n.2271A>T n.2147A>T n.1211A>T n.1132A>T c.2135A>T (p.Asp712Val) c.2072A>T (p.Asp691Val) c.2048A>T (p.Asp683Val) c.1973A>T (p.Asp658Val) c.2051A>T (p.Asp684Val) c.1850A>T (p.Asp617Val) c.1949A>T (p.Asp650Val) c.2036A>T (p.Asp679Val) c.1652A>T (p.Asp551Val) c.1706A>T (p.Asp569Val) c.1802A>T (p.Asp601Val) c.2231A>T (p.Asp744Val) c.2207A>T (p.Asp736Val) c.2117A>T (p.Asp706Val) c.2093A>T (p.Asp698Val) c.1925A>T (p.Asp642Val) c.1937A>T (p.Asp646Val) c.2162A>T (p.Asp721Val) c.2123A>T (p.Asp708Val) c.1751A>T (p.Asp584Val) c.2099A>T (p.Asp700Val) | |
| 4 | g.113287661T>A | CA357915715 | ANK2 | c.2187T>A (p.Asp729Glu) c.2181T>A (p.Asp727Glu) n.5462T>A n.2343T>A n.2272T>A n.2148T>A n.1212T>A n.1133T>A c.2136T>A (p.Asp712Glu) c.2073T>A (p.Asp691Glu) c.2049T>A (p.Asp683Glu) c.1974T>A (p.Asp658Glu) c.2052T>A (p.Asp684Glu) c.1851T>A (p.Asp617Glu) c.1950T>A (p.Asp650Glu) c.2037T>A (p.Asp679Glu) c.1653T>A (p.Asp551Glu) c.1707T>A (p.Asp569Glu) c.1803T>A (p.Asp601Glu) c.2232T>A (p.Asp744Glu) c.2208T>A (p.Asp736Glu) c.2118T>A (p.Asp706Glu) c.2094T>A (p.Asp698Glu) c.1926T>A (p.Asp642Glu) c.1938T>A (p.Asp646Glu) c.2163T>A (p.Asp721Glu) c.2124T>A (p.Asp708Glu) c.1752T>A (p.Asp584Glu) c.2100T>A (p.Asp700Glu) | |
| 4 | g.113287661T>C | CA440829642 | ANK2 | c.2187T>C (p.Asp729=) c.2181T>C (p.Asp727=) n.5462T>C n.2343T>C n.2272T>C n.2148T>C n.1212T>C n.1133T>C c.2136T>C (p.Asp712=) c.2073T>C (p.Asp691=) c.2049T>C (p.Asp683=) c.1974T>C (p.Asp658=) c.2052T>C (p.Asp684=) c.1851T>C (p.Asp617=) c.1950T>C (p.Asp650=) c.2037T>C (p.Asp679=) c.1653T>C (p.Asp551=) c.1707T>C (p.Asp569=) c.1803T>C (p.Asp601=) c.2232T>C (p.Asp744=) c.2208T>C (p.Asp736=) c.2118T>C (p.Asp706=) c.2094T>C (p.Asp698=) c.1926T>C (p.Asp642=) c.1938T>C (p.Asp646=) c.2163T>C (p.Asp721=) c.2124T>C (p.Asp708=) c.1752T>C (p.Asp584=) c.2100T>C (p.Asp700=) | gnomAD v4 |
| 4 | g.113287661T>G | CA357915717 | ANK2 | c.2187T>G (p.Asp729Glu) c.2181T>G (p.Asp727Glu) n.5462T>G n.2343T>G n.2272T>G n.2148T>G n.1212T>G n.1133T>G c.2136T>G (p.Asp712Glu) c.2073T>G (p.Asp691Glu) c.2049T>G (p.Asp683Glu) c.1974T>G (p.Asp658Glu) c.2052T>G (p.Asp684Glu) c.1851T>G (p.Asp617Glu) c.1950T>G (p.Asp650Glu) c.2037T>G (p.Asp679Glu) c.1653T>G (p.Asp551Glu) c.1707T>G (p.Asp569Glu) c.1803T>G (p.Asp601Glu) c.2232T>G (p.Asp744Glu) c.2208T>G (p.Asp736Glu) c.2118T>G (p.Asp706Glu) c.2094T>G (p.Asp698Glu) c.1926T>G (p.Asp642Glu) c.1938T>G (p.Asp646Glu) c.2163T>G (p.Asp721Glu) c.2124T>G (p.Asp708Glu) c.1752T>G (p.Asp584Glu) c.2100T>G (p.Asp700Glu) | |
| 4 | g.113287662A>C | CA357915719 | ANK2 | c.2188A>C (p.Ile730Leu) c.2182A>C (p.Ile728Leu) n.5463A>C n.2344A>C n.2273A>C n.2149A>C n.1213A>C n.1134A>C c.2137A>C (p.Ile713Leu) c.2074A>C (p.Ile692Leu) c.2050A>C (p.Ile684Leu) c.1975A>C (p.Ile659Leu) c.2053A>C (p.Ile685Leu) c.1852A>C (p.Ile618Leu) c.1951A>C (p.Ile651Leu) c.2038A>C (p.Ile680Leu) c.1654A>C (p.Ile552Leu) c.1708A>C (p.Ile570Leu) c.1804A>C (p.Ile602Leu) c.2233A>C (p.Ile745Leu) c.2209A>C (p.Ile737Leu) c.2119A>C (p.Ile707Leu) c.2095A>C (p.Ile699Leu) c.1927A>C (p.Ile643Leu) c.1939A>C (p.Ile647Leu) c.2164A>C (p.Ile722Leu) c.2125A>C (p.Ile709Leu) c.1753A>C (p.Ile585Leu) c.2101A>C (p.Ile701Leu) | |
| 4 | g.113287662A>G | CA357915721 | ANK2 | c.2188A>G (p.Ile730Val) c.2182A>G (p.Ile728Val) n.5463A>G n.2344A>G n.2273A>G n.2149A>G n.1213A>G n.1134A>G c.2137A>G (p.Ile713Val) c.2074A>G (p.Ile692Val) c.2050A>G (p.Ile684Val) c.1975A>G (p.Ile659Val) c.2053A>G (p.Ile685Val) c.1852A>G (p.Ile618Val) c.1951A>G (p.Ile651Val) c.2038A>G (p.Ile680Val) c.1654A>G (p.Ile552Val) c.1708A>G (p.Ile570Val) c.1804A>G (p.Ile602Val) c.2233A>G (p.Ile745Val) c.2209A>G (p.Ile737Val) c.2119A>G (p.Ile707Val) c.2095A>G (p.Ile699Val) c.1927A>G (p.Ile643Val) c.1939A>G (p.Ile647Val) c.2164A>G (p.Ile722Val) c.2125A>G (p.Ile709Val) c.1753A>G (p.Ile585Val) c.2101A>G (p.Ile701Val) | |
| 4 | g.113287662A>T | CA357915720 | ANK2 | c.2188A>T (p.Ile730Phe) c.2182A>T (p.Ile728Phe) n.5463A>T n.2344A>T n.2273A>T n.2149A>T n.1213A>T n.1134A>T c.2137A>T (p.Ile713Phe) c.2074A>T (p.Ile692Phe) c.2050A>T (p.Ile684Phe) c.1975A>T (p.Ile659Phe) c.2053A>T (p.Ile685Phe) c.1852A>T (p.Ile618Phe) c.1951A>T (p.Ile651Phe) c.2038A>T (p.Ile680Phe) c.1654A>T (p.Ile552Phe) c.1708A>T (p.Ile570Phe) c.1804A>T (p.Ile602Phe) c.2233A>T (p.Ile745Phe) c.2209A>T (p.Ile737Phe) c.2119A>T (p.Ile707Phe) c.2095A>T (p.Ile699Phe) c.1927A>T (p.Ile643Phe) c.1939A>T (p.Ile647Phe) c.2164A>T (p.Ile722Phe) c.2125A>T (p.Ile709Phe) c.1753A>T (p.Ile585Phe) c.2101A>T (p.Ile701Phe) | |
| 4 | g.113287663T>A | CA357915723 | ANK2 | c.2189T>A (p.Ile730Asn) c.2183T>A (p.Ile728Asn) n.5464T>A n.2345T>A n.2274T>A n.2150T>A n.1214T>A n.1135T>A c.2138T>A (p.Ile713Asn) c.2075T>A (p.Ile692Asn) c.2051T>A (p.Ile684Asn) c.1976T>A (p.Ile659Asn) c.2054T>A (p.Ile685Asn) c.1853T>A (p.Ile618Asn) c.1952T>A (p.Ile651Asn) c.2039T>A (p.Ile680Asn) c.1655T>A (p.Ile552Asn) c.1709T>A (p.Ile570Asn) c.1805T>A (p.Ile602Asn) c.2234T>A (p.Ile745Asn) c.2210T>A (p.Ile737Asn) c.2120T>A (p.Ile707Asn) c.2096T>A (p.Ile699Asn) c.1928T>A (p.Ile643Asn) c.1940T>A (p.Ile647Asn) c.2165T>A (p.Ile722Asn) c.2126T>A (p.Ile709Asn) c.1754T>A (p.Ile585Asn) c.2102T>A (p.Ile701Asn) | dbSNP |
| 4 | g.113287663T>C | CA357915725 | ANK2 | c.2189T>C (p.Ile730Thr) c.2183T>C (p.Ile728Thr) n.5464T>C n.2345T>C n.2274T>C n.2150T>C n.1214T>C n.1135T>C c.2138T>C (p.Ile713Thr) c.2075T>C (p.Ile692Thr) c.2051T>C (p.Ile684Thr) c.1976T>C (p.Ile659Thr) c.2054T>C (p.Ile685Thr) c.1853T>C (p.Ile618Thr) c.1952T>C (p.Ile651Thr) c.2039T>C (p.Ile680Thr) c.1655T>C (p.Ile552Thr) c.1709T>C (p.Ile570Thr) c.1805T>C (p.Ile602Thr) c.2234T>C (p.Ile745Thr) c.2210T>C (p.Ile737Thr) c.2120T>C (p.Ile707Thr) c.2096T>C (p.Ile699Thr) c.1928T>C (p.Ile643Thr) c.1940T>C (p.Ile647Thr) c.2165T>C (p.Ile722Thr) c.2126T>C (p.Ile709Thr) c.1754T>C (p.Ile585Thr) c.2102T>C (p.Ile701Thr) |