| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.81974464T>A | CA367892552 | CACNA2D1 | c.2080A>T (p.Asn694Tyr) c.1811A>T c.1924A>T (p.Asn642Tyr) c.2044A>T (p.Asn682Tyr) c.576A>T c.2029A>T (p.Asn677Tyr) c.2023A>T (p.Asn675Tyr) c.2008A>T (p.Asn670Tyr) c.2101A>T (p.Asn701Tyr) c.2026A>T (p.Asn676Tyr) c.1984A>T (p.Asn662Tyr) c.511A>T (p.Asn171Tyr) c.2086A>T (p.Asn696Tyr) c.2065A>T (p.Asn689Tyr) c.1870A>T (p.Asn624Tyr) c.1927A>T (p.Asn643Tyr) n.2121A>T n.2028A>T | |
| 7 | g.81974464T>C | CA367892553 | CACNA2D1 | c.2080A>G (p.Asn694Asp) c.1811A>G c.1924A>G (p.Asn642Asp) c.2044A>G (p.Asn682Asp) c.576A>G c.2029A>G (p.Asn677Asp) c.2023A>G (p.Asn675Asp) c.2008A>G (p.Asn670Asp) c.2101A>G (p.Asn701Asp) c.2026A>G (p.Asn676Asp) c.1984A>G (p.Asn662Asp) c.511A>G (p.Asn171Asp) c.2086A>G (p.Asn696Asp) c.2065A>G (p.Asn689Asp) c.1870A>G (p.Asn624Asp) c.1927A>G (p.Asn643Asp) n.2121A>G n.2028A>G | gnomAD v4 |
| 7 | g.81974464T>G | CA367892554 | CACNA2D1 | c.2080A>C (p.Asn694His) c.1811A>C c.1924A>C (p.Asn642His) c.2044A>C (p.Asn682His) c.576A>C c.2029A>C (p.Asn677His) c.2023A>C (p.Asn675His) c.2008A>C (p.Asn670His) c.2101A>C (p.Asn701His) c.2026A>C (p.Asn676His) c.1984A>C (p.Asn662His) c.511A>C (p.Asn171His) c.2086A>C (p.Asn696His) c.2065A>C (p.Asn689His) c.1870A>C (p.Asn624His) c.1927A>C (p.Asn643His) n.2121A>C n.2028A>C | gnomAD v4 |
| 7 | g.81974465G>A | CA4317774 | CACNA2D1 | c.2079C>T (p.Asn693=) c.1810C>T c.1923C>T (p.Asn641=) c.2043C>T (p.Asn681=) c.575C>T c.2028C>T (p.Asn676=) c.2022C>T (p.Asn674=) c.2007C>T (p.Asn669=) c.2100C>T (p.Asn700=) c.2025C>T (p.Asn675=) c.1983C>T (p.Asn661=) c.510C>T (p.Asn170=) c.2085C>T (p.Asn695=) c.2064C>T (p.Asn688=) c.1869C>T (p.Asn623=) c.1926C>T (p.Asn642=) n.2120C>T n.2027C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.81974465G>C | CA367892555 | CACNA2D1 | c.2079C>G (p.Asn693Lys) c.1810C>G c.1923C>G (p.Asn641Lys) c.2043C>G (p.Asn681Lys) c.575C>G c.2028C>G (p.Asn676Lys) c.2022C>G (p.Asn674Lys) c.2007C>G (p.Asn669Lys) c.2100C>G (p.Asn700Lys) c.2025C>G (p.Asn675Lys) c.1983C>G (p.Asn661Lys) c.510C>G (p.Asn170Lys) c.2085C>G (p.Asn695Lys) c.2064C>G (p.Asn688Lys) c.1869C>G (p.Asn623Lys) c.1926C>G (p.Asn642Lys) n.2120C>G n.2027C>G | |
| 7 | g.81974465G= | CA1720999250 | CACNA2D1 | c.2079C= (p.Asn693=) c.1810C= c.1923C= (p.Asn641=) c.2043C= (p.Asn681=) c.575C= c.2028C= (p.Asn676=) c.2022C= (p.Asn674=) c.2007C= (p.Asn669=) c.2100C= (p.Asn700=) c.2025C= (p.Asn675=) c.1983C= (p.Asn661=) c.510C= (p.Asn170=) c.2085C= (p.Asn695=) c.2064C= (p.Asn688=) c.1869C= (p.Asn623=) c.1926C= (p.Asn642=) n.2120C= n.2027C= | |
| 7 | g.81974465G>T | CA367892556 | CACNA2D1 | c.2079C>A (p.Asn693Lys) c.1810C>A c.1923C>A (p.Asn641Lys) c.2043C>A (p.Asn681Lys) c.575C>A c.2028C>A (p.Asn676Lys) c.2022C>A (p.Asn674Lys) c.2007C>A (p.Asn669Lys) c.2100C>A (p.Asn700Lys) c.2025C>A (p.Asn675Lys) c.1983C>A (p.Asn661Lys) c.510C>A (p.Asn170Lys) c.2085C>A (p.Asn695Lys) c.2064C>A (p.Asn688Lys) c.1869C>A (p.Asn623Lys) c.1926C>A (p.Asn642Lys) n.2120C>A n.2027C>A | gnomAD v4 |
| 7 | g.81974466T>A | CA367892559 | CACNA2D1 | c.2078A>T (p.Asn693Ile) c.1809A>T c.1922A>T (p.Asn641Ile) c.2042A>T (p.Asn681Ile) c.574A>T c.2027A>T (p.Asn676Ile) c.2021A>T (p.Asn674Ile) c.2006A>T (p.Asn669Ile) c.2099A>T (p.Asn700Ile) c.2024A>T (p.Asn675Ile) c.1982A>T (p.Asn661Ile) c.509A>T (p.Asn170Ile) c.2084A>T (p.Asn695Ile) c.2063A>T (p.Asn688Ile) c.1868A>T (p.Asn623Ile) c.1925A>T (p.Asn642Ile) n.2119A>T n.2026A>T | |
| 7 | g.81974466T>C | CA367892558 | CACNA2D1 | c.2078A>G (p.Asn693Ser) c.1809A>G c.1922A>G (p.Asn641Ser) c.2042A>G (p.Asn681Ser) c.574A>G c.2027A>G (p.Asn676Ser) c.2021A>G (p.Asn674Ser) c.2006A>G (p.Asn669Ser) c.2099A>G (p.Asn700Ser) c.2024A>G (p.Asn675Ser) c.1982A>G (p.Asn661Ser) c.509A>G (p.Asn170Ser) c.2084A>G (p.Asn695Ser) c.2063A>G (p.Asn688Ser) c.1868A>G (p.Asn623Ser) c.1925A>G (p.Asn642Ser) n.2119A>G n.2026A>G | |
| 7 | g.81974466T>G | CA367892557 | CACNA2D1 | c.2078A>C (p.Asn693Thr) c.1809A>C c.1922A>C (p.Asn641Thr) c.2042A>C (p.Asn681Thr) c.574A>C c.2027A>C (p.Asn676Thr) c.2021A>C (p.Asn674Thr) c.2006A>C (p.Asn669Thr) c.2099A>C (p.Asn700Thr) c.2024A>C (p.Asn675Thr) c.1982A>C (p.Asn661Thr) c.509A>C (p.Asn170Thr) c.2084A>C (p.Asn695Thr) c.2063A>C (p.Asn688Thr) c.1868A>C (p.Asn623Thr) c.1925A>C (p.Asn642Thr) n.2119A>C n.2026A>C | |
| 7 | g.81974467T>A | CA367892560 | CACNA2D1 | c.2077A>T (p.Asn693Tyr) c.1808A>T c.1921A>T (p.Asn641Tyr) c.2041A>T (p.Asn681Tyr) c.573A>T c.2026A>T (p.Asn676Tyr) c.2020A>T (p.Asn674Tyr) c.2005A>T (p.Asn669Tyr) c.2098A>T (p.Asn700Tyr) c.2023A>T (p.Asn675Tyr) c.1981A>T (p.Asn661Tyr) c.508A>T (p.Asn170Tyr) c.2083A>T (p.Asn695Tyr) c.2062A>T (p.Asn688Tyr) c.1867A>T (p.Asn623Tyr) c.1924A>T (p.Asn642Tyr) n.2118A>T n.2025A>T | |
| 7 | g.81974467T>C | CA367892562 | CACNA2D1 | c.2077A>G (p.Asn693Asp) c.1808A>G c.1921A>G (p.Asn641Asp) c.2041A>G (p.Asn681Asp) c.573A>G c.2026A>G (p.Asn676Asp) c.2020A>G (p.Asn674Asp) c.2005A>G (p.Asn669Asp) c.2098A>G (p.Asn700Asp) c.2023A>G (p.Asn675Asp) c.1981A>G (p.Asn661Asp) c.508A>G (p.Asn170Asp) c.2083A>G (p.Asn695Asp) c.2062A>G (p.Asn688Asp) c.1867A>G (p.Asn623Asp) c.1924A>G (p.Asn642Asp) n.2118A>G n.2025A>G | dbSNP gnomAD v4 |
| 7 | g.81974467T>G | CA367892561 | CACNA2D1 | c.2077A>C (p.Asn693His) c.1808A>C c.1921A>C (p.Asn641His) c.2041A>C (p.Asn681His) c.573A>C c.2026A>C (p.Asn676His) c.2020A>C (p.Asn674His) c.2005A>C (p.Asn669His) c.2098A>C (p.Asn700His) c.2023A>C (p.Asn675His) c.1981A>C (p.Asn661His) c.508A>C (p.Asn170His) c.2083A>C (p.Asn695His) c.2062A>C (p.Asn688His) c.1867A>C (p.Asn623His) c.1924A>C (p.Asn642His) n.2118A>C n.2025A>C | |
| 7 | g.81974467T= | CA1720999254 | CACNA2D1 | c.2077A= (p.Asn693=) c.1808A= c.1921A= (p.Asn641=) c.2041A= (p.Asn681=) c.573A= c.2026A= (p.Asn676=) c.2020A= (p.Asn674=) c.2005A= (p.Asn669=) c.2098A= (p.Asn700=) c.2023A= (p.Asn675=) c.1981A= (p.Asn661=) c.508A= (p.Asn170=) c.2083A= (p.Asn695=) c.2062A= (p.Asn688=) c.1867A= (p.Asn623=) c.1924A= (p.Asn642=) n.2118A= n.2025A= | |
| 7 | g.81974468T>A | CA456132635 | CACNA2D1 | c.2076A>T (p.Pro692=) c.1807A>T c.1920A>T (p.Pro640=) c.2040A>T (p.Pro680=) c.572A>T c.2025A>T (p.Pro675=) c.2019A>T (p.Pro673=) c.2004A>T (p.Pro668=) c.2097A>T (p.Pro699=) c.2022A>T (p.Pro674=) c.1980A>T (p.Pro660=) c.507A>T (p.Pro169=) c.2082A>T (p.Pro694=) c.2061A>T (p.Pro687=) c.1866A>T (p.Pro622=) c.1923A>T (p.Pro641=) n.2117A>T n.2024A>T | |
| 7 | g.81974468T>C | CA4317775 | CACNA2D1 | c.2076A>G (p.Pro692=) c.1807A>G c.1920A>G (p.Pro640=) c.2040A>G (p.Pro680=) c.572A>G c.2025A>G (p.Pro675=) c.2019A>G (p.Pro673=) c.2004A>G (p.Pro668=) c.2097A>G (p.Pro699=) c.2022A>G (p.Pro674=) c.1980A>G (p.Pro660=) c.507A>G (p.Pro169=) c.2082A>G (p.Pro694=) c.2061A>G (p.Pro687=) c.1866A>G (p.Pro622=) c.1923A>G (p.Pro641=) n.2117A>G n.2024A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.81974468T>G | CA456132634 | CACNA2D1 | c.2076A>C (p.Pro692=) c.1807A>C c.1920A>C (p.Pro640=) c.2040A>C (p.Pro680=) c.572A>C c.2025A>C (p.Pro675=) c.2019A>C (p.Pro673=) c.2004A>C (p.Pro668=) c.2097A>C (p.Pro699=) c.2022A>C (p.Pro674=) c.1980A>C (p.Pro660=) c.507A>C (p.Pro169=) c.2082A>C (p.Pro694=) c.2061A>C (p.Pro687=) c.1866A>C (p.Pro622=) c.1923A>C (p.Pro641=) n.2117A>C n.2024A>C | |
| 7 | g.81974468T= | CA1720999256 | CACNA2D1 | c.2076A= (p.Pro692=) c.1807A= c.1920A= (p.Pro640=) c.2040A= (p.Pro680=) c.572A= c.2025A= (p.Pro675=) c.2019A= (p.Pro673=) c.2004A= (p.Pro668=) c.2097A= (p.Pro699=) c.2022A= (p.Pro674=) c.1980A= (p.Pro660=) c.507A= (p.Pro169=) c.2082A= (p.Pro694=) c.2061A= (p.Pro687=) c.1866A= (p.Pro622=) c.1923A= (p.Pro641=) n.2117A= n.2024A= | |
| 7 | g.81974469G>A | CA367892565 | CACNA2D1 | c.2075C>T (p.Pro692Leu) c.1806C>T c.1919C>T (p.Pro640Leu) c.2039C>T (p.Pro680Leu) c.571C>T c.2024C>T (p.Pro675Leu) c.2018C>T (p.Pro673Leu) c.2003C>T (p.Pro668Leu) c.2096C>T (p.Pro699Leu) c.2021C>T (p.Pro674Leu) c.1979C>T (p.Pro660Leu) c.506C>T (p.Pro169Leu) c.2081C>T (p.Pro694Leu) c.2060C>T (p.Pro687Leu) c.1865C>T (p.Pro622Leu) c.1922C>T (p.Pro641Leu) n.2116C>T n.2023C>T | |
| 7 | g.81974469G>C | CA367892563 | CACNA2D1 | c.2075C>G (p.Pro692Arg) c.1806C>G c.1919C>G (p.Pro640Arg) c.2039C>G (p.Pro680Arg) c.571C>G c.2024C>G (p.Pro675Arg) c.2018C>G (p.Pro673Arg) c.2003C>G (p.Pro668Arg) c.2096C>G (p.Pro699Arg) c.2021C>G (p.Pro674Arg) c.1979C>G (p.Pro660Arg) c.506C>G (p.Pro169Arg) c.2081C>G (p.Pro694Arg) c.2060C>G (p.Pro687Arg) c.1865C>G (p.Pro622Arg) c.1922C>G (p.Pro641Arg) n.2116C>G n.2023C>G | |
| 7 | g.81974469G>T | CA367892564 | CACNA2D1 | c.2075C>A (p.Pro692Gln) c.1806C>A c.1919C>A (p.Pro640Gln) c.2039C>A (p.Pro680Gln) c.571C>A c.2024C>A (p.Pro675Gln) c.2018C>A (p.Pro673Gln) c.2003C>A (p.Pro668Gln) c.2096C>A (p.Pro699Gln) c.2021C>A (p.Pro674Gln) c.1979C>A (p.Pro660Gln) c.506C>A (p.Pro169Gln) c.2081C>A (p.Pro694Gln) c.2060C>A (p.Pro687Gln) c.1865C>A (p.Pro622Gln) c.1922C>A (p.Pro641Gln) n.2116C>A n.2023C>A | gnomAD v4 |
| 7 | g.81974470G>A | CA367892566 | CACNA2D1 | c.2074C>T (p.Pro692Ser) c.1805C>T c.1918C>T (p.Pro640Ser) c.2038C>T (p.Pro680Ser) c.570C>T c.2023C>T (p.Pro675Ser) c.2017C>T (p.Pro673Ser) c.2002C>T (p.Pro668Ser) c.2095C>T (p.Pro699Ser) c.2020C>T (p.Pro674Ser) c.1978C>T (p.Pro660Ser) c.505C>T (p.Pro169Ser) c.2080C>T (p.Pro694Ser) c.2059C>T (p.Pro687Ser) c.1864C>T (p.Pro622Ser) c.1921C>T (p.Pro641Ser) n.2115C>T n.2022C>T | gnomAD v4 |
| 7 | g.81974470G>C | CA367892567 | CACNA2D1 | c.2074C>G (p.Pro692Ala) c.1805C>G c.1918C>G (p.Pro640Ala) c.2038C>G (p.Pro680Ala) c.570C>G c.2023C>G (p.Pro675Ala) c.2017C>G (p.Pro673Ala) c.2002C>G (p.Pro668Ala) c.2095C>G (p.Pro699Ala) c.2020C>G (p.Pro674Ala) c.1978C>G (p.Pro660Ala) c.505C>G (p.Pro169Ala) c.2080C>G (p.Pro694Ala) c.2059C>G (p.Pro687Ala) c.1864C>G (p.Pro622Ala) c.1921C>G (p.Pro641Ala) n.2115C>G n.2022C>G | |
| 7 | g.81974470G>T | CA367892568 | CACNA2D1 | c.2074C>A (p.Pro692Thr) c.1805C>A c.1918C>A (p.Pro640Thr) c.2038C>A (p.Pro680Thr) c.570C>A c.2023C>A (p.Pro675Thr) c.2017C>A (p.Pro673Thr) c.2002C>A (p.Pro668Thr) c.2095C>A (p.Pro699Thr) c.2020C>A (p.Pro674Thr) c.1978C>A (p.Pro660Thr) c.505C>A (p.Pro169Thr) c.2080C>A (p.Pro694Thr) c.2059C>A (p.Pro687Thr) c.1864C>A (p.Pro622Thr) c.1921C>A (p.Pro641Thr) n.2115C>A n.2022C>A | dbSNP gnomAD v4 COSMIC COSMIC |
| 7 | g.81974471A>C | CA456132643 | CACNA2D1 | c.2073T>G (p.Thr691=) c.1804T>G c.1917T>G (p.Thr639=) c.2037T>G (p.Thr679=) c.569T>G c.2022T>G (p.Thr674=) c.2016T>G (p.Thr672=) c.2001T>G (p.Thr667=) c.2094T>G (p.Thr698=) c.2019T>G (p.Thr673=) c.1977T>G (p.Thr659=) c.504T>G (p.Thr168=) c.2079T>G (p.Thr693=) c.2058T>G (p.Thr686=) c.1863T>G (p.Thr621=) c.1920T>G (p.Thr640=) n.2114T>G n.2021T>G | gnomAD v4 |
| 7 | g.81974471A>G | CA456132642 | CACNA2D1 | c.2073T>C (p.Thr691=) c.1804T>C c.1917T>C (p.Thr639=) c.2037T>C (p.Thr679=) c.569T>C c.2022T>C (p.Thr674=) c.2016T>C (p.Thr672=) c.2001T>C (p.Thr667=) c.2094T>C (p.Thr698=) c.2019T>C (p.Thr673=) c.1977T>C (p.Thr659=) c.504T>C (p.Thr168=) c.2079T>C (p.Thr693=) c.2058T>C (p.Thr686=) c.1863T>C (p.Thr621=) c.1920T>C (p.Thr640=) n.2114T>C n.2021T>C | gnomAD v4 |
| 7 | g.81974471A>T | CA456132641 | CACNA2D1 | c.2073T>A (p.Thr691=) c.1804T>A c.1917T>A (p.Thr639=) c.2037T>A (p.Thr679=) c.569T>A c.2022T>A (p.Thr674=) c.2016T>A (p.Thr672=) c.2001T>A (p.Thr667=) c.2094T>A (p.Thr698=) c.2019T>A (p.Thr673=) c.1977T>A (p.Thr659=) c.504T>A (p.Thr168=) c.2079T>A (p.Thr693=) c.2058T>A (p.Thr686=) c.1863T>A (p.Thr621=) c.1920T>A (p.Thr640=) n.2114T>A n.2021T>A | gnomAD v4 |
| 7 | g.81974472G>A | CA367892569 | CACNA2D1 | c.2072C>T (p.Thr691Ile) c.1803C>T c.1916C>T (p.Thr639Ile) c.2036C>T (p.Thr679Ile) c.568C>T c.2021C>T (p.Thr674Ile) c.2015C>T (p.Thr672Ile) c.2000C>T (p.Thr667Ile) c.2093C>T (p.Thr698Ile) c.2018C>T (p.Thr673Ile) c.1976C>T (p.Thr659Ile) c.503C>T (p.Thr168Ile) c.2078C>T (p.Thr693Ile) c.2057C>T (p.Thr686Ile) c.1862C>T (p.Thr621Ile) c.1919C>T (p.Thr640Ile) n.2113C>T n.2020C>T | |
| 7 | g.81974472G>C | CA367892570 | CACNA2D1 | c.2072C>G (p.Thr691Ser) c.1803C>G c.1916C>G (p.Thr639Ser) c.2036C>G (p.Thr679Ser) c.568C>G c.2021C>G (p.Thr674Ser) c.2015C>G (p.Thr672Ser) c.2000C>G (p.Thr667Ser) c.2093C>G (p.Thr698Ser) c.2018C>G (p.Thr673Ser) c.1976C>G (p.Thr659Ser) c.503C>G (p.Thr168Ser) c.2078C>G (p.Thr693Ser) c.2057C>G (p.Thr686Ser) c.1862C>G (p.Thr621Ser) c.1919C>G (p.Thr640Ser) n.2113C>G n.2020C>G | dbSNP |
| 7 | g.81974472G= | CA1720999260 | CACNA2D1 | c.2072C= (p.Thr691=) c.1803C= c.1916C= (p.Thr639=) c.2036C= (p.Thr679=) c.568C= c.2021C= (p.Thr674=) c.2015C= (p.Thr672=) c.2000C= (p.Thr667=) c.2093C= (p.Thr698=) c.2018C= (p.Thr673=) c.1976C= (p.Thr659=) c.503C= (p.Thr168=) c.2078C= (p.Thr693=) c.2057C= (p.Thr686=) c.1862C= (p.Thr621=) c.1919C= (p.Thr640=) n.2113C= n.2020C= | |
| 7 | g.81974472G>T | CA367892571 | CACNA2D1 | c.2072C>A (p.Thr691Asn) c.1803C>A c.1916C>A (p.Thr639Asn) c.2036C>A (p.Thr679Asn) c.568C>A c.2021C>A (p.Thr674Asn) c.2015C>A (p.Thr672Asn) c.2000C>A (p.Thr667Asn) c.2093C>A (p.Thr698Asn) c.2018C>A (p.Thr673Asn) c.1976C>A (p.Thr659Asn) c.503C>A (p.Thr168Asn) c.2078C>A (p.Thr693Asn) c.2057C>A (p.Thr686Asn) c.1862C>A (p.Thr621Asn) c.1919C>A (p.Thr640Asn) n.2113C>A n.2020C>A | gnomAD v4 |
| 7 | g.81974473T>A | CA367892572 | CACNA2D1 | c.2071A>T (p.Thr691Ser) c.1802A>T c.1915A>T (p.Thr639Ser) c.2035A>T (p.Thr679Ser) c.567A>T c.2020A>T (p.Thr674Ser) c.2014A>T (p.Thr672Ser) c.1999A>T (p.Thr667Ser) c.2092A>T (p.Thr698Ser) c.2017A>T (p.Thr673Ser) c.1975A>T (p.Thr659Ser) c.502A>T (p.Thr168Ser) c.2077A>T (p.Thr693Ser) c.2056A>T (p.Thr686Ser) c.1861A>T (p.Thr621Ser) c.1918A>T (p.Thr640Ser) n.2112A>T n.2019A>T | |
| 7 | g.81974473T>C | CA367892573 | CACNA2D1 | c.2071A>G (p.Thr691Ala) c.1802A>G c.1915A>G (p.Thr639Ala) c.2035A>G (p.Thr679Ala) c.567A>G c.2020A>G (p.Thr674Ala) c.2014A>G (p.Thr672Ala) c.1999A>G (p.Thr667Ala) c.2092A>G (p.Thr698Ala) c.2017A>G (p.Thr673Ala) c.1975A>G (p.Thr659Ala) c.502A>G (p.Thr168Ala) c.2077A>G (p.Thr693Ala) c.2056A>G (p.Thr686Ala) c.1861A>G (p.Thr621Ala) c.1918A>G (p.Thr640Ala) n.2112A>G n.2019A>G | gnomAD v4 |
| 7 | g.81974473T>G | CA367892574 | CACNA2D1 | c.2071A>C (p.Thr691Pro) c.1802A>C c.1915A>C (p.Thr639Pro) c.2035A>C (p.Thr679Pro) c.567A>C c.2020A>C (p.Thr674Pro) c.2014A>C (p.Thr672Pro) c.1999A>C (p.Thr667Pro) c.2092A>C (p.Thr698Pro) c.2017A>C (p.Thr673Pro) c.1975A>C (p.Thr659Pro) c.502A>C (p.Thr168Pro) c.2077A>C (p.Thr693Pro) c.2056A>C (p.Thr686Pro) c.1861A>C (p.Thr621Pro) c.1918A>C (p.Thr640Pro) n.2112A>C n.2019A>C | |
| 7 | g.81974474T>A | CA367892575 | CACNA2D1 | c.2070A>T (p.Lys690Asn) c.1801A>T c.1914A>T (p.Lys638Asn) c.2034A>T (p.Lys678Asn) c.566A>T c.2019A>T (p.Lys673Asn) c.2013A>T (p.Lys671Asn) c.1998A>T (p.Lys666Asn) c.2091A>T (p.Lys697Asn) c.2016A>T (p.Lys672Asn) c.1974A>T (p.Lys658Asn) c.501A>T (p.Lys167Asn) c.2076A>T (p.Lys692Asn) c.2055A>T (p.Lys685Asn) c.1860A>T (p.Lys620Asn) c.1917A>T (p.Lys639Asn) n.2111A>T n.2018A>T | |
| 7 | g.81974474T>C | CA456132646 | CACNA2D1 | c.2070A>G (p.Lys690=) c.1801A>G c.1914A>G (p.Lys638=) c.2034A>G (p.Lys678=) c.566A>G c.2019A>G (p.Lys673=) c.2013A>G (p.Lys671=) c.1998A>G (p.Lys666=) c.2091A>G (p.Lys697=) c.2016A>G (p.Lys672=) c.1974A>G (p.Lys658=) c.501A>G (p.Lys167=) c.2076A>G (p.Lys692=) c.2055A>G (p.Lys685=) c.1860A>G (p.Lys620=) c.1917A>G (p.Lys639=) n.2111A>G n.2018A>G | gnomAD v4 |
| 7 | g.81974474T>G | CA367892576 | CACNA2D1 | c.2070A>C (p.Lys690Asn) c.1801A>C c.1914A>C (p.Lys638Asn) c.2034A>C (p.Lys678Asn) c.566A>C c.2019A>C (p.Lys673Asn) c.2013A>C (p.Lys671Asn) c.1998A>C (p.Lys666Asn) c.2091A>C (p.Lys697Asn) c.2016A>C (p.Lys672Asn) c.1974A>C (p.Lys658Asn) c.501A>C (p.Lys167Asn) c.2076A>C (p.Lys692Asn) c.2055A>C (p.Lys685Asn) c.1860A>C (p.Lys620Asn) c.1917A>C (p.Lys639Asn) n.2111A>C n.2018A>C | |
| 7 | g.81974475T>A | CA367892579 | CACNA2D1 | c.2069A>T (p.Lys690Ile) c.1800A>T c.1913A>T (p.Lys638Ile) c.2033A>T (p.Lys678Ile) c.565A>T c.2018A>T (p.Lys673Ile) c.2012A>T (p.Lys671Ile) c.1997A>T (p.Lys666Ile) c.2090A>T (p.Lys697Ile) c.2015A>T (p.Lys672Ile) c.1973A>T (p.Lys658Ile) c.500A>T (p.Lys167Ile) c.2075A>T (p.Lys692Ile) c.2054A>T (p.Lys685Ile) c.1859A>T (p.Lys620Ile) c.1916A>T (p.Lys639Ile) n.2110A>T n.2017A>T | |
| 7 | g.81974475T>C | CA367892578 | CACNA2D1 | c.2069A>G (p.Lys690Arg) c.1800A>G c.1913A>G (p.Lys638Arg) c.2033A>G (p.Lys678Arg) c.565A>G c.2018A>G (p.Lys673Arg) c.2012A>G (p.Lys671Arg) c.1997A>G (p.Lys666Arg) c.2090A>G (p.Lys697Arg) c.2015A>G (p.Lys672Arg) c.1973A>G (p.Lys658Arg) c.500A>G (p.Lys167Arg) c.2075A>G (p.Lys692Arg) c.2054A>G (p.Lys685Arg) c.1859A>G (p.Lys620Arg) c.1916A>G (p.Lys639Arg) n.2110A>G n.2017A>G | ClinVar |
| 7 | g.81974475T>G | CA367892577 | CACNA2D1 | c.2069A>C (p.Lys690Thr) c.1800A>C c.1913A>C (p.Lys638Thr) c.2033A>C (p.Lys678Thr) c.565A>C c.2018A>C (p.Lys673Thr) c.2012A>C (p.Lys671Thr) c.1997A>C (p.Lys666Thr) c.2090A>C (p.Lys697Thr) c.2015A>C (p.Lys672Thr) c.1973A>C (p.Lys658Thr) c.500A>C (p.Lys167Thr) c.2075A>C (p.Lys692Thr) c.2054A>C (p.Lys685Thr) c.1859A>C (p.Lys620Thr) c.1916A>C (p.Lys639Thr) n.2110A>C n.2017A>C | |
| 7 | g.81974476T>A | CA367892580 | CACNA2D1 | c.2068A>T (p.Lys690Ter) c.1799A>T c.1912A>T (p.Lys638Ter) c.2032A>T (p.Lys678Ter) c.564A>T c.2017A>T (p.Lys673Ter) c.2011A>T (p.Lys671Ter) c.1996A>T (p.Lys666Ter) c.2089A>T (p.Lys697Ter) c.2014A>T (p.Lys672Ter) c.1972A>T (p.Lys658Ter) c.499A>T (p.Lys167Ter) c.2074A>T (p.Lys692Ter) c.2053A>T (p.Lys685Ter) c.1858A>T (p.Lys620Ter) c.1915A>T (p.Lys639Ter) n.2109A>T n.2016A>T | |
| 7 | g.81974476T>C | CA367892581 | CACNA2D1 | c.2068A>G (p.Lys690Glu) c.1799A>G c.1912A>G (p.Lys638Glu) c.2032A>G (p.Lys678Glu) c.564A>G c.2017A>G (p.Lys673Glu) c.2011A>G (p.Lys671Glu) c.1996A>G (p.Lys666Glu) c.2089A>G (p.Lys697Glu) c.2014A>G (p.Lys672Glu) c.1972A>G (p.Lys658Glu) c.499A>G (p.Lys167Glu) c.2074A>G (p.Lys692Glu) c.2053A>G (p.Lys685Glu) c.1858A>G (p.Lys620Glu) c.1915A>G (p.Lys639Glu) n.2109A>G n.2016A>G | gnomAD v4 |
| 7 | g.81974476T>G | CA367892582 | CACNA2D1 | c.2068A>C (p.Lys690Gln) c.1799A>C c.1912A>C (p.Lys638Gln) c.2032A>C (p.Lys678Gln) c.564A>C c.2017A>C (p.Lys673Gln) c.2011A>C (p.Lys671Gln) c.1996A>C (p.Lys666Gln) c.2089A>C (p.Lys697Gln) c.2014A>C (p.Lys672Gln) c.1972A>C (p.Lys658Gln) c.499A>C (p.Lys167Gln) c.2074A>C (p.Lys692Gln) c.2053A>C (p.Lys685Gln) c.1858A>C (p.Lys620Gln) c.1915A>C (p.Lys639Gln) n.2109A>C n.2016A>C | |
| 7 | g.81974477T>A | CA367892583 | CACNA2D1 | c.2067A>T (p.Arg689Ser) c.1798A>T c.1911A>T (p.Arg637Ser) c.2031A>T (p.Arg677Ser) c.563A>T c.2016A>T (p.Arg672Ser) c.2010A>T (p.Arg670Ser) c.1995A>T (p.Arg665Ser) c.2088A>T (p.Arg696Ser) c.2013A>T (p.Arg671Ser) c.1971A>T (p.Arg657Ser) c.498A>T (p.Arg166Ser) c.2073A>T (p.Arg691Ser) c.2052A>T (p.Arg684Ser) c.1857A>T (p.Arg619Ser) c.1914A>T (p.Arg638Ser) n.2108A>T n.2015A>T | |
| 7 | g.81974477T>C | CA4317776 | CACNA2D1 | c.2067A>G (p.Arg689=) c.1798A>G c.1911A>G (p.Arg637=) c.2031A>G (p.Arg677=) c.563A>G c.2016A>G (p.Arg672=) c.2010A>G (p.Arg670=) c.1995A>G (p.Arg665=) c.2088A>G (p.Arg696=) c.2013A>G (p.Arg671=) c.1971A>G (p.Arg657=) c.498A>G (p.Arg166=) c.2073A>G (p.Arg691=) c.2052A>G (p.Arg684=) c.1857A>G (p.Arg619=) c.1914A>G (p.Arg638=) n.2108A>G n.2015A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.81974477T>G | CA367892584 | CACNA2D1 | c.2067A>C (p.Arg689Ser) c.1798A>C c.1911A>C (p.Arg637Ser) c.2031A>C (p.Arg677Ser) c.563A>C c.2016A>C (p.Arg672Ser) c.2010A>C (p.Arg670Ser) c.1995A>C (p.Arg665Ser) c.2088A>C (p.Arg696Ser) c.2013A>C (p.Arg671Ser) c.1971A>C (p.Arg657Ser) c.498A>C (p.Arg166Ser) c.2073A>C (p.Arg691Ser) c.2052A>C (p.Arg684Ser) c.1857A>C (p.Arg619Ser) c.1914A>C (p.Arg638Ser) n.2108A>C n.2015A>C | |
| 7 | g.81974477T= | CA1720999262 | CACNA2D1 | c.2067A= (p.Arg689=) c.1798A= c.1911A= (p.Arg637=) c.2031A= (p.Arg677=) c.563A= c.2016A= (p.Arg672=) c.2010A= (p.Arg670=) c.1995A= (p.Arg665=) c.2088A= (p.Arg696=) c.2013A= (p.Arg671=) c.1971A= (p.Arg657=) c.498A= (p.Arg166=) c.2073A= (p.Arg691=) c.2052A= (p.Arg684=) c.1857A= (p.Arg619=) c.1914A= (p.Arg638=) n.2108A= n.2015A= | |
| 7 | g.81974478C>A | CA367892585 | CACNA2D1 | c.2066G>T (p.Arg689Ile) c.1797G>T c.1910G>T (p.Arg637Ile) c.2030G>T (p.Arg677Ile) c.562G>T c.2015G>T (p.Arg672Ile) c.2009G>T (p.Arg670Ile) c.1994G>T (p.Arg665Ile) c.2087G>T (p.Arg696Ile) c.2012G>T (p.Arg671Ile) c.1970G>T (p.Arg657Ile) c.497G>T (p.Arg166Ile) c.2072G>T (p.Arg691Ile) c.2051G>T (p.Arg684Ile) c.1856G>T (p.Arg619Ile) c.1913G>T (p.Arg638Ile) n.2107G>T n.2014G>T | gnomAD v4 |
| 7 | g.81974478C= | CA1720999264 | CACNA2D1 | c.2066G= (p.Arg689=) c.1797G= c.1910G= (p.Arg637=) c.2030G= (p.Arg677=) c.562G= c.2015G= (p.Arg672=) c.2009G= (p.Arg670=) c.1994G= (p.Arg665=) c.2087G= (p.Arg696=) c.2012G= (p.Arg671=) c.1970G= (p.Arg657=) c.497G= (p.Arg166=) c.2072G= (p.Arg691=) c.2051G= (p.Arg684=) c.1856G= (p.Arg619=) c.1913G= (p.Arg638=) n.2107G= n.2014G= | |
| 7 | g.81974478C>G | CA367892586 | CACNA2D1 | c.2066G>C (p.Arg689Thr) c.1797G>C c.1910G>C (p.Arg637Thr) c.2030G>C (p.Arg677Thr) c.562G>C c.2015G>C (p.Arg672Thr) c.2009G>C (p.Arg670Thr) c.1994G>C (p.Arg665Thr) c.2087G>C (p.Arg696Thr) c.2012G>C (p.Arg671Thr) c.1970G>C (p.Arg657Thr) c.497G>C (p.Arg166Thr) c.2072G>C (p.Arg691Thr) c.2051G>C (p.Arg684Thr) c.1856G>C (p.Arg619Thr) c.1913G>C (p.Arg638Thr) n.2107G>C n.2014G>C |