Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.81974464T>ACA367892552CACNA2D1c.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
7g.81974464T>CCA367892553CACNA2D1c.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
7g.81974464T>GCA367892554CACNA2D1c.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
7g.81974465G>ACA4317774CACNA2D1c.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
7g.81974465G>CCA367892555CACNA2D1c.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
7g.81974465G=CA1720999250CACNA2D1c.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=
7g.81974465G>TCA367892556CACNA2D1c.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
7g.81974466T>ACA367892559CACNA2D1c.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
7g.81974466T>CCA367892558CACNA2D1c.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
7g.81974466T>GCA367892557CACNA2D1c.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
7g.81974467T>ACA367892560CACNA2D1c.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
7g.81974467T>CCA367892562CACNA2D1c.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
7g.81974467T>GCA367892561CACNA2D1c.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
7g.81974467T=CA1720999254CACNA2D1c.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=
7g.81974468T>ACA456132635CACNA2D1c.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
7g.81974468T>CCA4317775CACNA2D1c.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
7g.81974468T>GCA456132634CACNA2D1c.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
7g.81974468T=CA1720999256CACNA2D1c.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=
7g.81974469G>ACA367892565CACNA2D1c.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
7g.81974469G>CCA367892563CACNA2D1c.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
7g.81974469G>TCA367892564CACNA2D1c.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
7g.81974470G>ACA367892566CACNA2D1c.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
7g.81974470G>CCA367892567CACNA2D1c.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
7g.81974470G>TCA367892568CACNA2D1c.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
7g.81974471A>CCA456132643CACNA2D1c.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
7g.81974471A>GCA456132642CACNA2D1c.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
7g.81974471A>TCA456132641CACNA2D1c.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
7g.81974472G>ACA367892569CACNA2D1c.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
7g.81974472G>CCA367892570CACNA2D1c.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
7g.81974472G=CA1720999260CACNA2D1c.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=
7g.81974472G>TCA367892571CACNA2D1c.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
7g.81974473T>ACA367892572CACNA2D1c.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
7g.81974473T>CCA367892573CACNA2D1c.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
7g.81974473T>GCA367892574CACNA2D1c.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
7g.81974474T>ACA367892575CACNA2D1c.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
7g.81974474T>CCA456132646CACNA2D1c.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
7g.81974474T>GCA367892576CACNA2D1c.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
7g.81974475T>ACA367892579CACNA2D1c.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
7g.81974475T>CCA367892578CACNA2D1c.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
7g.81974475T>GCA367892577CACNA2D1c.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
7g.81974476T>ACA367892580CACNA2D1c.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
7g.81974476T>CCA367892581CACNA2D1c.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
7g.81974476T>GCA367892582CACNA2D1c.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
7g.81974477T>ACA367892583CACNA2D1c.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
7g.81974477T>CCA4317776CACNA2D1c.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
7g.81974477T>GCA367892584CACNA2D1c.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
7g.81974477T=CA1720999262CACNA2D1c.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=
7g.81974478C>ACA367892585CACNA2D1c.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
7g.81974478C=CA1720999264CACNA2D1c.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=
7g.81974478C>GCA367892586CACNA2D1c.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
7g.81974478C>TCA367892587CACNA2D1c.2066G>A (p.Arg689Lys)
c.1797G>A
c.1910G>A (p.Arg637Lys)
c.2030G>A (p.Arg677Lys)
c.562G>A
c.2015G>A (p.Arg672Lys)
c.2009G>A (p.Arg670Lys)
c.1994G>A (p.Arg665Lys)
c.2087G>A (p.Arg696Lys)
c.2012G>A (p.Arg671Lys)
c.1970G>A (p.Arg657Lys)
c.497G>A (p.Arg166Lys)
c.2072G>A (p.Arg691Lys)
c.2051G>A (p.Arg684Lys)
c.1856G>A (p.Arg619Lys)
c.1913G>A (p.Arg638Lys)
n.2107G>A
n.2014G>A
 dbSNP gnomAD v2 gnomAD v4
7g.81974479T>ACA367892588CACNA2D1c.2065A>T (p.Arg689Ter)
c.1796A>T
c.1909A>T (p.Arg637Ter)
c.2029A>T (p.Arg677Ter)
c.561A>T
c.2014A>T (p.Arg672Ter)
c.2008A>T (p.Arg670Ter)
c.1993A>T (p.Arg665Ter)
c.2086A>T (p.Arg696Ter)
c.2011A>T (p.Arg671Ter)
c.1969A>T (p.Arg657Ter)
c.496A>T (p.Arg166Ter)
c.2071A>T (p.Arg691Ter)
c.2050A>T (p.Arg684Ter)
c.1855A>T (p.Arg619Ter)
c.1912A>T (p.Arg638Ter)
n.2106A>T
n.2013A>T
 dbSNP
7g.81974479T>CCA367892589CACNA2D1c.2065A>G (p.Arg689Gly)
c.1796A>G
c.1909A>G (p.Arg637Gly)
c.2029A>G (p.Arg677Gly)
c.561A>G
c.2014A>G (p.Arg672Gly)
c.2008A>G (p.Arg670Gly)
c.1993A>G (p.Arg665Gly)
c.2086A>G (p.Arg696Gly)
c.2011A>G (p.Arg671Gly)
c.1969A>G (p.Arg657Gly)
c.496A>G (p.Arg166Gly)
c.2071A>G (p.Arg691Gly)
c.2050A>G (p.Arg684Gly)
c.1855A>G (p.Arg619Gly)
c.1912A>G (p.Arg638Gly)
n.2106A>G
n.2013A>G
 COSMIC COSMIC
7g.81974479T>GCA456132655CACNA2D1c.2065A>C (p.Arg689=)
c.1796A>C
c.1909A>C (p.Arg637=)
c.2029A>C (p.Arg677=)
c.561A>C
c.2014A>C (p.Arg672=)
c.2008A>C (p.Arg670=)
c.1993A>C (p.Arg665=)
c.2086A>C (p.Arg696=)
c.2011A>C (p.Arg671=)
c.1969A>C (p.Arg657=)
c.496A>C (p.Arg166=)
c.2071A>C (p.Arg691=)
c.2050A>C (p.Arg684=)
c.1855A>C (p.Arg619=)
c.1912A>C (p.Arg638=)
n.2106A>C
n.2013A>C
 dbSNP gnomAD v2 gnomAD v4
7g.81974479T=CA1720999268CACNA2D1c.2065A= (p.Arg689=)
c.1796A=
c.1909A= (p.Arg637=)
c.2029A= (p.Arg677=)
c.561A=
c.2014A= (p.Arg672=)
c.2008A= (p.Arg670=)
c.1993A= (p.Arg665=)
c.2086A= (p.Arg696=)
c.2011A= (p.Arg671=)
c.1969A= (p.Arg657=)
c.496A= (p.Arg166=)
c.2071A= (p.Arg691=)
c.2050A= (p.Arg684=)
c.1855A= (p.Arg619=)
c.1912A= (p.Arg638=)
n.2106A=
n.2013A=
7g.81974480A>CCA367892590CACNA2D1c.2064T>G (p.Asp688Glu)
c.1795T>G
c.1908T>G (p.Asp636Glu)
c.2028T>G (p.Asp676Glu)
c.560T>G
c.2013T>G (p.Asp671Glu)
c.2007T>G (p.Asp669Glu)
c.1992T>G (p.Asp664Glu)
c.2085T>G (p.Asp695Glu)
c.2010T>G (p.Asp670Glu)
c.1968T>G (p.Asp656Glu)
c.495T>G (p.Asp165Glu)
c.2070T>G (p.Asp690Glu)
c.2049T>G (p.Asp683Glu)
c.1854T>G (p.Asp618Glu)
c.1911T>G (p.Asp637Glu)
n.2105T>G
n.2012T>G
 gnomAD v4
7g.81974480A>GCA456132656CACNA2D1c.2064T>C (p.Asp688=)
c.1795T>C
c.1908T>C (p.Asp636=)
c.2028T>C (p.Asp676=)
c.560T>C
c.2013T>C (p.Asp671=)
c.2007T>C (p.Asp669=)
c.1992T>C (p.Asp664=)
c.2085T>C (p.Asp695=)
c.2010T>C (p.Asp670=)
c.1968T>C (p.Asp656=)
c.495T>C (p.Asp165=)
c.2070T>C (p.Asp690=)
c.2049T>C (p.Asp683=)
c.1854T>C (p.Asp618=)
c.1911T>C (p.Asp637=)
n.2105T>C
n.2012T>C
 gnomAD v4
7g.81974480A>TCA367892591CACNA2D1c.2064T>A (p.Asp688Glu)
c.1795T>A
c.1908T>A (p.Asp636Glu)
c.2028T>A (p.Asp676Glu)
c.560T>A
c.2013T>A (p.Asp671Glu)
c.2007T>A (p.Asp669Glu)
c.1992T>A (p.Asp664Glu)
c.2085T>A (p.Asp695Glu)
c.2010T>A (p.Asp670Glu)
c.1968T>A (p.Asp656Glu)
c.495T>A (p.Asp165Glu)
c.2070T>A (p.Asp690Glu)
c.2049T>A (p.Asp683Glu)
c.1854T>A (p.Asp618Glu)
c.1911T>A (p.Asp637Glu)
n.2105T>A
n.2012T>A
7g.81974481T>ACA367892594CACNA2D1c.2063A>T (p.Asp688Val)
c.1794A>T
c.1907A>T (p.Asp636Val)
c.2027A>T (p.Asp676Val)
c.559A>T
c.2012A>T (p.Asp671Val)
c.2006A>T (p.Asp669Val)
c.1991A>T (p.Asp664Val)
c.2084A>T (p.Asp695Val)
c.2009A>T (p.Asp670Val)
c.1967A>T (p.Asp656Val)
c.494A>T (p.Asp165Val)
c.2069A>T (p.Asp690Val)
c.2048A>T (p.Asp683Val)
c.1853A>T (p.Asp618Val)
c.1910A>T (p.Asp637Val)
n.2104A>T
n.2011A>T
7g.81974481T>CCA367892596CACNA2D1c.2063A>G (p.Asp688Gly)
c.1794A>G
c.1907A>G (p.Asp636Gly)
c.2027A>G (p.Asp676Gly)
c.559A>G
c.2012A>G (p.Asp671Gly)
c.2006A>G (p.Asp669Gly)
c.1991A>G (p.Asp664Gly)
c.2084A>G (p.Asp695Gly)
c.2009A>G (p.Asp670Gly)
c.1967A>G (p.Asp656Gly)
c.494A>G (p.Asp165Gly)
c.2069A>G (p.Asp690Gly)
c.2048A>G (p.Asp683Gly)
c.1853A>G (p.Asp618Gly)
c.1910A>G (p.Asp637Gly)
n.2104A>G
n.2011A>G
 dbSNP gnomAD v3 gnomAD v4
7g.81974481T>GCA367892592CACNA2D1c.2063A>C (p.Asp688Ala)
c.1794A>C
c.1907A>C (p.Asp636Ala)
c.2027A>C (p.Asp676Ala)
c.559A>C
c.2012A>C (p.Asp671Ala)
c.2006A>C (p.Asp669Ala)
c.1991A>C (p.Asp664Ala)
c.2084A>C (p.Asp695Ala)
c.2009A>C (p.Asp670Ala)
c.1967A>C (p.Asp656Ala)
c.494A>C (p.Asp165Ala)
c.2069A>C (p.Asp690Ala)
c.2048A>C (p.Asp683Ala)
c.1853A>C (p.Asp618Ala)
c.1910A>C (p.Asp637Ala)
n.2104A>C
n.2011A>C
7g.81974482C>ACA367892598CACNA2D1c.2062G>T (p.Asp688Tyr)
c.1793G>T
c.1906G>T (p.Asp636Tyr)
c.2026G>T (p.Asp676Tyr)
c.558G>T
c.2011G>T (p.Asp671Tyr)
c.2005G>T (p.Asp669Tyr)
c.1990G>T (p.Asp664Tyr)
c.2083G>T (p.Asp695Tyr)
c.2008G>T (p.Asp670Tyr)
c.1966G>T (p.Asp656Tyr)
c.493G>T (p.Asp165Tyr)
c.2068G>T (p.Asp690Tyr)
c.2047G>T (p.Asp683Tyr)
c.1852G>T (p.Asp618Tyr)
c.1909G>T (p.Asp637Tyr)
n.2103G>T
n.2010G>T
 gnomAD v4
7g.81974482C>GCA367892600CACNA2D1c.2062G>C (p.Asp688His)
c.1793G>C
c.1906G>C (p.Asp636His)
c.2026G>C (p.Asp676His)
c.558G>C
c.2011G>C (p.Asp671His)
c.2005G>C (p.Asp669His)
c.1990G>C (p.Asp664His)
c.2083G>C (p.Asp695His)
c.2008G>C (p.Asp670His)
c.1966G>C (p.Asp656His)
c.493G>C (p.Asp165His)
c.2068G>C (p.Asp690His)
c.2047G>C (p.Asp683His)
c.1852G>C (p.Asp618His)
c.1909G>C (p.Asp637His)
n.2103G>C
n.2010G>C
7g.81974482C>TCA367892602CACNA2D1c.2062G>A (p.Asp688Asn)
c.1793G>A
c.1906G>A (p.Asp636Asn)
c.2026G>A (p.Asp676Asn)
c.558G>A
c.2011G>A (p.Asp671Asn)
c.2005G>A (p.Asp669Asn)
c.1990G>A (p.Asp664Asn)
c.2083G>A (p.Asp695Asn)
c.2008G>A (p.Asp670Asn)
c.1966G>A (p.Asp656Asn)
c.493G>A (p.Asp165Asn)
c.2068G>A (p.Asp690Asn)
c.2047G>A (p.Asp683Asn)
c.1852G>A (p.Asp618Asn)
c.1909G>A (p.Asp637Asn)
n.2103G>A
n.2010G>A
7g.81974483A=CA1720999273CACNA2D1c.2061T= (p.Ile687=)
c.1792T=
c.1905T= (p.Ile635=)
c.2025T= (p.Ile675=)
c.557T=
c.2010T= (p.Ile670=)
c.2004T= (p.Ile668=)
c.1989T= (p.Ile663=)
c.2082T= (p.Ile694=)
c.2007T= (p.Ile669=)
c.1965T= (p.Ile655=)
c.492T= (p.Ile164=)
c.2067T= (p.Ile689=)
c.2046T= (p.Ile682=)
c.1851T= (p.Ile617=)
c.1908T= (p.Ile636=)
n.2102T=
n.2009T=
7g.81974483A>CCA367892603CACNA2D1c.2061T>G (p.Ile687Met)
c.1792T>G
c.1905T>G (p.Ile635Met)
c.2025T>G (p.Ile675Met)
c.557T>G
c.2010T>G (p.Ile670Met)
c.2004T>G (p.Ile668Met)
c.1989T>G (p.Ile663Met)
c.2082T>G (p.Ile694Met)
c.2007T>G (p.Ile669Met)
c.1965T>G (p.Ile655Met)
c.492T>G (p.Ile164Met)
c.2067T>G (p.Ile689Met)
c.2046T>G (p.Ile682Met)
c.1851T>G (p.Ile617Met)
c.1908T>G (p.Ile636Met)
n.2102T>G
n.2009T>G
 dbSNP gnomAD v3 gnomAD v4
7g.81974483A>GCA456132658CACNA2D1c.2061T>C (p.Ile687=)
c.1792T>C
c.1905T>C (p.Ile635=)
c.2025T>C (p.Ile675=)
c.557T>C
c.2010T>C (p.Ile670=)
c.2004T>C (p.Ile668=)
c.1989T>C (p.Ile663=)
c.2082T>C (p.Ile694=)
c.2007T>C (p.Ile669=)
c.1965T>C (p.Ile655=)
c.492T>C (p.Ile164=)
c.2067T>C (p.Ile689=)
c.2046T>C (p.Ile682=)
c.1851T>C (p.Ile617=)
c.1908T>C (p.Ile636=)
n.2102T>C
n.2009T>C
 gnomAD v4
7g.81974483A>TCA456132659CACNA2D1c.2061T>A (p.Ile687=)
c.1792T>A
c.1905T>A (p.Ile635=)
c.2025T>A (p.Ile675=)
c.557T>A
c.2010T>A (p.Ile670=)
c.2004T>A (p.Ile668=)
c.1989T>A (p.Ile663=)
c.2082T>A (p.Ile694=)
c.2007T>A (p.Ile669=)
c.1965T>A (p.Ile655=)
c.492T>A (p.Ile164=)
c.2067T>A (p.Ile689=)
c.2046T>A (p.Ile682=)
c.1851T>A (p.Ile617=)
c.1908T>A (p.Ile636=)
n.2102T>A
n.2009T>A
7g.81974484A=CA1720999277CACNA2D1c.2060T= (p.Ile687=)
c.1791T=
c.1904T= (p.Ile635=)
c.2024T= (p.Ile675=)
c.556T=
c.2009T= (p.Ile670=)
c.2003T= (p.Ile668=)
c.1988T= (p.Ile663=)
c.2081T= (p.Ile694=)
c.2006T= (p.Ile669=)
c.1964T= (p.Ile655=)
c.491T= (p.Ile164=)
c.2066T= (p.Ile689=)
c.2045T= (p.Ile682=)
c.1850T= (p.Ile617=)
c.1907T= (p.Ile636=)
n.2101T=
n.2008T=
7g.81974484A>CCA367892606CACNA2D1c.2060T>G (p.Ile687Ser)
c.1791T>G
c.1904T>G (p.Ile635Ser)
c.2024T>G (p.Ile675Ser)
c.556T>G
c.2009T>G (p.Ile670Ser)
c.2003T>G (p.Ile668Ser)
c.1988T>G (p.Ile663Ser)
c.2081T>G (p.Ile694Ser)
c.2006T>G (p.Ile669Ser)
c.1964T>G (p.Ile655Ser)
c.491T>G (p.Ile164Ser)
c.2066T>G (p.Ile689Ser)
c.2045T>G (p.Ile682Ser)
c.1850T>G (p.Ile617Ser)
c.1907T>G (p.Ile636Ser)
n.2101T>G
n.2008T>G
7g.81974484A>GCA367892608CACNA2D1c.2060T>C (p.Ile687Thr)
c.1791T>C
c.1904T>C (p.Ile635Thr)
c.2024T>C (p.Ile675Thr)
c.556T>C
c.2009T>C (p.Ile670Thr)
c.2003T>C (p.Ile668Thr)
c.1988T>C (p.Ile663Thr)
c.2081T>C (p.Ile694Thr)
c.2006T>C (p.Ile669Thr)
c.1964T>C (p.Ile655Thr)
c.491T>C (p.Ile164Thr)
c.2066T>C (p.Ile689Thr)
c.2045T>C (p.Ile682Thr)
c.1850T>C (p.Ile617Thr)
c.1907T>C (p.Ile636Thr)
n.2101T>C
n.2008T>C
 dbSNP gnomAD v2 gnomAD v4
7g.81974484A>TCA367892611CACNA2D1c.2060T>A (p.Ile687Asn)
c.1791T>A
c.1904T>A (p.Ile635Asn)
c.2024T>A (p.Ile675Asn)
c.556T>A
c.2009T>A (p.Ile670Asn)
c.2003T>A (p.Ile668Asn)
c.1988T>A (p.Ile663Asn)
c.2081T>A (p.Ile694Asn)
c.2006T>A (p.Ile669Asn)
c.1964T>A (p.Ile655Asn)
c.491T>A (p.Ile164Asn)
c.2066T>A (p.Ile689Asn)
c.2045T>A (p.Ile682Asn)
c.1850T>A (p.Ile617Asn)
c.1907T>A (p.Ile636Asn)
n.2101T>A
n.2008T>A
7g.81974485T>ACA367892612CACNA2D1c.2059A>T (p.Ile687Phe)
c.1790A>T
c.1903A>T (p.Ile635Phe)
c.2023A>T (p.Ile675Phe)
c.555A>T
c.2008A>T (p.Ile670Phe)
c.2002A>T (p.Ile668Phe)
c.1987A>T (p.Ile663Phe)
c.2080A>T (p.Ile694Phe)
c.2005A>T (p.Ile669Phe)
c.1963A>T (p.Ile655Phe)
c.490A>T (p.Ile164Phe)
c.2065A>T (p.Ile689Phe)
c.2044A>T (p.Ile682Phe)
c.1849A>T (p.Ile617Phe)
c.1906A>T (p.Ile636Phe)
n.2100A>T
n.2007A>T
7g.81974485T>CCA367892614CACNA2D1c.2059A>G (p.Ile687Val)
c.1790A>G
c.1903A>G (p.Ile635Val)
c.2023A>G (p.Ile675Val)
c.555A>G
c.2008A>G (p.Ile670Val)
c.2002A>G (p.Ile668Val)
c.1987A>G (p.Ile663Val)
c.2080A>G (p.Ile694Val)
c.2005A>G (p.Ile669Val)
c.1963A>G (p.Ile655Val)
c.490A>G (p.Ile164Val)
c.2065A>G (p.Ile689Val)
c.2044A>G (p.Ile682Val)
c.1849A>G (p.Ile617Val)
c.1906A>G (p.Ile636Val)
n.2100A>G
n.2007A>G
 gnomAD v4
7g.81974485T>GCA367892616CACNA2D1c.2059A>C (p.Ile687Leu)
c.1790A>C
c.1903A>C (p.Ile635Leu)
c.2023A>C (p.Ile675Leu)
c.555A>C
c.2008A>C (p.Ile670Leu)
c.2002A>C (p.Ile668Leu)
c.1987A>C (p.Ile663Leu)
c.2080A>C (p.Ile694Leu)
c.2005A>C (p.Ile669Leu)
c.1963A>C (p.Ile655Leu)
c.490A>C (p.Ile164Leu)
c.2065A>C (p.Ile689Leu)
c.2044A>C (p.Ile682Leu)
c.1849A>C (p.Ile617Leu)
c.1906A>C (p.Ile636Leu)
n.2100A>C
n.2007A>C
7g.81974486A=CA1720999279CACNA2D1c.2058T= (p.Phe686=)
c.1789T=
c.1902T= (p.Phe634=)
c.2022T= (p.Phe674=)
c.554T=
c.2007T= (p.Phe669=)
c.2001T= (p.Phe667=)
c.1986T= (p.Phe662=)
c.2079T= (p.Phe693=)
c.2004T= (p.Phe668=)
c.1962T= (p.Phe654=)
c.489T= (p.Phe163=)
c.2064T= (p.Phe688=)
c.2043T= (p.Phe681=)
c.1848T= (p.Phe616=)
c.1905T= (p.Phe635=)
n.2099T=
n.2006T=
7g.81974486A>CCA367892619CACNA2D1c.2058T>G (p.Phe686Leu)
c.1789T>G
c.1902T>G (p.Phe634Leu)
c.2022T>G (p.Phe674Leu)
c.554T>G
c.2007T>G (p.Phe669Leu)
c.2001T>G (p.Phe667Leu)
c.1986T>G (p.Phe662Leu)
c.2079T>G (p.Phe693Leu)
c.2004T>G (p.Phe668Leu)
c.1962T>G (p.Phe654Leu)
c.489T>G (p.Phe163Leu)
c.2064T>G (p.Phe688Leu)
c.2043T>G (p.Phe681Leu)
c.1848T>G (p.Phe616Leu)
c.1905T>G (p.Phe635Leu)
n.2099T>G
n.2006T>G
 gnomAD v4
7g.81974486A>GCA456132661CACNA2D1c.2058T>C (p.Phe686=)
c.1789T>C
c.1902T>C (p.Phe634=)
c.2022T>C (p.Phe674=)
c.554T>C
c.2007T>C (p.Phe669=)
c.2001T>C (p.Phe667=)
c.1986T>C (p.Phe662=)
c.2079T>C (p.Phe693=)
c.2004T>C (p.Phe668=)
c.1962T>C (p.Phe654=)
c.489T>C (p.Phe163=)
c.2064T>C (p.Phe688=)
c.2043T>C (p.Phe681=)
c.1848T>C (p.Phe616=)
c.1905T>C (p.Phe635=)
n.2099T>C
n.2006T>C
 dbSNP gnomAD v2 gnomAD v4
7g.81974486A>TCA367892621CACNA2D1c.2058T>A (p.Phe686Leu)
c.1789T>A
c.1902T>A (p.Phe634Leu)
c.2022T>A (p.Phe674Leu)
c.554T>A
c.2007T>A (p.Phe669Leu)
c.2001T>A (p.Phe667Leu)
c.1986T>A (p.Phe662Leu)
c.2079T>A (p.Phe693Leu)
c.2004T>A (p.Phe668Leu)
c.1962T>A (p.Phe654Leu)
c.489T>A (p.Phe163Leu)
c.2064T>A (p.Phe688Leu)
c.2043T>A (p.Phe681Leu)
c.1848T>A (p.Phe616Leu)
c.1905T>A (p.Phe635Leu)
n.2099T>A
n.2006T>A
7g.81974487A=CA1720999282CACNA2D1c.2057T= (p.Phe686=)
c.1788T=
c.1901T= (p.Phe634=)
c.2021T= (p.Phe674=)
c.553T=
c.2006T= (p.Phe669=)
c.2000T= (p.Phe667=)
c.1985T= (p.Phe662=)
c.2078T= (p.Phe693=)
c.2003T= (p.Phe668=)
c.1961T= (p.Phe654=)
c.488T= (p.Phe163=)
c.2063T= (p.Phe688=)
c.2042T= (p.Phe681=)
c.1847T= (p.Phe616=)
c.1904T= (p.Phe635=)
n.2098T=
n.2005T=
7g.81974487A>CCA367892628CACNA2D1c.2057T>G (p.Phe686Cys)
c.1788T>G
c.1901T>G (p.Phe634Cys)
c.2021T>G (p.Phe674Cys)
c.553T>G
c.2006T>G (p.Phe669Cys)
c.2000T>G (p.Phe667Cys)
c.1985T>G (p.Phe662Cys)
c.2078T>G (p.Phe693Cys)
c.2003T>G (p.Phe668Cys)
c.1961T>G (p.Phe654Cys)
c.488T>G (p.Phe163Cys)
c.2063T>G (p.Phe688Cys)
c.2042T>G (p.Phe681Cys)
c.1847T>G (p.Phe616Cys)
c.1904T>G (p.Phe635Cys)
n.2098T>G
n.2005T>G
 dbSNP
7g.81974487A>GCA367892624CACNA2D1c.2057T>C (p.Phe686Ser)
c.1788T>C
c.1901T>C (p.Phe634Ser)
c.2021T>C (p.Phe674Ser)
c.553T>C
c.2006T>C (p.Phe669Ser)
c.2000T>C (p.Phe667Ser)
c.1985T>C (p.Phe662Ser)
c.2078T>C (p.Phe693Ser)
c.2003T>C (p.Phe668Ser)
c.1961T>C (p.Phe654Ser)
c.488T>C (p.Phe163Ser)
c.2063T>C (p.Phe688Ser)
c.2042T>C (p.Phe681Ser)
c.1847T>C (p.Phe616Ser)
c.1904T>C (p.Phe635Ser)
n.2098T>C
n.2005T>C
7g.81974487A>TCA367892626CACNA2D1c.2057T>A (p.Phe686Tyr)
c.1788T>A
c.1901T>A (p.Phe634Tyr)
c.2021T>A (p.Phe674Tyr)
c.553T>A
c.2006T>A (p.Phe669Tyr)
c.2000T>A (p.Phe667Tyr)
c.1985T>A (p.Phe662Tyr)
c.2078T>A (p.Phe693Tyr)
c.2003T>A (p.Phe668Tyr)
c.1961T>A (p.Phe654Tyr)
c.488T>A (p.Phe163Tyr)
c.2063T>A (p.Phe688Tyr)
c.2042T>A (p.Phe681Tyr)
c.1847T>A (p.Phe616Tyr)
c.1904T>A (p.Phe635Tyr)
n.2098T>A
n.2005T>A
7g.81974488A>CCA367892631CACNA2D1c.2056T>G (p.Phe686Val)
c.1787T>G
c.1900T>G (p.Phe634Val)
c.2020T>G (p.Phe674Val)
c.552T>G
c.2005T>G (p.Phe669Val)
c.1999T>G (p.Phe667Val)
c.1984T>G (p.Phe662Val)
c.2077T>G (p.Phe693Val)
c.2002T>G (p.Phe668Val)
c.1960T>G (p.Phe654Val)
c.487T>G (p.Phe163Val)
c.2062T>G (p.Phe688Val)
c.2041T>G (p.Phe681Val)
c.1846T>G (p.Phe616Val)
c.1903T>G (p.Phe635Val)
n.2097T>G
n.2004T>G
7g.81974488A>GCA367892633CACNA2D1c.2056T>C (p.Phe686Leu)
c.1787T>C
c.1900T>C (p.Phe634Leu)
c.2020T>C (p.Phe674Leu)
c.552T>C
c.2005T>C (p.Phe669Leu)
c.1999T>C (p.Phe667Leu)
c.1984T>C (p.Phe662Leu)
c.2077T>C (p.Phe693Leu)
c.2002T>C (p.Phe668Leu)
c.1960T>C (p.Phe654Leu)
c.487T>C (p.Phe163Leu)
c.2062T>C (p.Phe688Leu)
c.2041T>C (p.Phe681Leu)
c.1846T>C (p.Phe616Leu)
c.1903T>C (p.Phe635Leu)
n.2097T>C
n.2004T>C
7g.81974488A>TCA367892635CACNA2D1c.2056T>A (p.Phe686Ile)
c.1787T>A
c.1900T>A (p.Phe634Ile)
c.2020T>A (p.Phe674Ile)
c.552T>A
c.2005T>A (p.Phe669Ile)
c.1999T>A (p.Phe667Ile)
c.1984T>A (p.Phe662Ile)
c.2077T>A (p.Phe693Ile)
c.2002T>A (p.Phe668Ile)
c.1960T>A (p.Phe654Ile)
c.487T>A (p.Phe163Ile)
c.2062T>A (p.Phe688Ile)
c.2041T>A (p.Phe681Ile)
c.1846T>A (p.Phe616Ile)
c.1903T>A (p.Phe635Ile)
n.2097T>A
n.2004T>A
7g.81974489C>ACA367892639CACNA2D1c.2055G>T (p.Glu685Asp)
c.1786G>T
c.1899G>T (p.Glu633Asp)
c.2019G>T (p.Glu673Asp)
c.551G>T
c.2004G>T (p.Glu668Asp)
c.1998G>T (p.Glu666Asp)
c.1983G>T (p.Glu661Asp)
c.2076G>T (p.Glu692Asp)
c.2001G>T (p.Glu667Asp)
c.1959G>T (p.Glu653Asp)
c.486G>T (p.Glu162Asp)
c.2061G>T (p.Glu687Asp)
c.2040G>T (p.Glu680Asp)
c.1845G>T (p.Glu615Asp)
c.1902G>T (p.Glu634Asp)
n.2096G>T
n.2003G>T
7g.81974489C>GCA367892640CACNA2D1c.2055G>C (p.Glu685Asp)
c.1786G>C
c.1899G>C (p.Glu633Asp)
c.2019G>C (p.Glu673Asp)
c.551G>C
c.2004G>C (p.Glu668Asp)
c.1998G>C (p.Glu666Asp)
c.1983G>C (p.Glu661Asp)
c.2076G>C (p.Glu692Asp)
c.2001G>C (p.Glu667Asp)
c.1959G>C (p.Glu653Asp)
c.486G>C (p.Glu162Asp)
c.2061G>C (p.Glu687Asp)
c.2040G>C (p.Glu680Asp)
c.1845G>C (p.Glu615Asp)
c.1902G>C (p.Glu634Asp)
n.2096G>C
n.2003G>C
7g.81974489C>TCA456132666CACNA2D1c.2055G>A (p.Glu685=)
c.1786G>A
c.1899G>A (p.Glu633=)
c.2019G>A (p.Glu673=)
c.551G>A
c.2004G>A (p.Glu668=)
c.1998G>A (p.Glu666=)
c.1983G>A (p.Glu661=)
c.2076G>A (p.Glu692=)
c.2001G>A (p.Glu667=)
c.1959G>A (p.Glu653=)
c.486G>A (p.Glu162=)
c.2061G>A (p.Glu687=)
c.2040G>A (p.Glu680=)
c.1845G>A (p.Glu615=)
c.1902G>A (p.Glu634=)
n.2096G>A
n.2003G>A
 gnomAD v4
7g.81974490T>ACA367892643CACNA2D1c.2054A>T (p.Glu685Val)
c.1785A>T
c.1898A>T (p.Glu633Val)
c.2018A>T (p.Glu673Val)
c.550A>T
c.2003A>T (p.Glu668Val)
c.1997A>T (p.Glu666Val)
c.1982A>T (p.Glu661Val)
c.2075A>T (p.Glu692Val)
c.2000A>T (p.Glu667Val)
c.1958A>T (p.Glu653Val)
c.485A>T (p.Glu162Val)
c.2060A>T (p.Glu687Val)
c.2039A>T (p.Glu680Val)
c.1844A>T (p.Glu615Val)
c.1901A>T (p.Glu634Val)
n.2095A>T
n.2002A>T
7g.81974490T>CCA367892645CACNA2D1c.2054A>G (p.Glu685Gly)
c.1785A>G
c.1898A>G (p.Glu633Gly)
c.2018A>G (p.Glu673Gly)
c.550A>G
c.2003A>G (p.Glu668Gly)
c.1997A>G (p.Glu666Gly)
c.1982A>G (p.Glu661Gly)
c.2075A>G (p.Glu692Gly)
c.2000A>G (p.Glu667Gly)
c.1958A>G (p.Glu653Gly)
c.485A>G (p.Glu162Gly)
c.2060A>G (p.Glu687Gly)
c.2039A>G (p.Glu680Gly)
c.1844A>G (p.Glu615Gly)
c.1901A>G (p.Glu634Gly)
n.2095A>G
n.2002A>G
7g.81974490T>GCA367892648CACNA2D1c.2054A>C (p.Glu685Ala)
c.1785A>C
c.1898A>C (p.Glu633Ala)
c.2018A>C (p.Glu673Ala)
c.550A>C
c.2003A>C (p.Glu668Ala)
c.1997A>C (p.Glu666Ala)
c.1982A>C (p.Glu661Ala)
c.2075A>C (p.Glu692Ala)
c.2000A>C (p.Glu667Ala)
c.1958A>C (p.Glu653Ala)
c.485A>C (p.Glu162Ala)
c.2060A>C (p.Glu687Ala)
c.2039A>C (p.Glu680Ala)
c.1844A>C (p.Glu615Ala)
c.1901A>C (p.Glu634Ala)
n.2095A>C
n.2002A>C
7g.81974490_81974491delinsAACA645557642CACNA2D1c.2053_2054delinsTT (p.Glu685Leu)
c.1784_1785delinsTT
c.1897_1898delinsTT (p.Glu633Leu)
c.2017_2018delinsTT (p.Glu673Leu)
c.549_550delinsTT
c.2002_2003delinsTT (p.Glu668Leu)
c.1996_1997delinsTT (p.Glu666Leu)
c.1981_1982delinsTT (p.Glu661Leu)
c.2074_2075delinsTT (p.Glu692Leu)
c.1999_2000delinsTT (p.Glu667Leu)
c.1957_1958delinsTT (p.Glu653Leu)
c.484_485delinsTT (p.Glu162Leu)
c.2059_2060delinsTT (p.Glu687Leu)
c.2038_2039delinsTT (p.Glu680Leu)
c.1843_1844delinsTT (p.Glu615Leu)
c.1900_1901delinsTT (p.Glu634Leu)
n.2094_2095delinsTT
n.2001_2002delinsTT
 COSMIC
7g.81974491C>ACA367892649CACNA2D1c.2053G>T (p.Glu685Ter)
c.1784G>T
c.1897G>T (p.Glu633Ter)
c.2017G>T (p.Glu673Ter)
c.549G>T
c.2002G>T (p.Glu668Ter)
c.1996G>T (p.Glu666Ter)
c.1981G>T (p.Glu661Ter)
c.2074G>T (p.Glu692Ter)
c.1999G>T (p.Glu667Ter)
c.1957G>T (p.Glu653Ter)
c.484G>T (p.Glu162Ter)
c.2059G>T (p.Glu687Ter)
c.2038G>T (p.Glu680Ter)
c.1843G>T (p.Glu615Ter)
c.1900G>T (p.Glu634Ter)
n.2094G>T
n.2001G>T
 dbSNP
7g.81974491C=CA1720999284CACNA2D1c.2053G= (p.Glu685=)
c.1784G=
c.1897G= (p.Glu633=)
c.2017G= (p.Glu673=)
c.549G=
c.2002G= (p.Glu668=)
c.1996G= (p.Glu666=)
c.1981G= (p.Glu661=)
c.2074G= (p.Glu692=)
c.1999G= (p.Glu667=)
c.1957G= (p.Glu653=)
c.484G= (p.Glu162=)
c.2059G= (p.Glu687=)
c.2038G= (p.Glu680=)
c.1843G= (p.Glu615=)
c.1900G= (p.Glu634=)
n.2094G=
n.2001G=
7g.81974491C>GCA367892651CACNA2D1c.2053G>C (p.Glu685Gln)
c.1784G>C
c.1897G>C (p.Glu633Gln)
c.2017G>C (p.Glu673Gln)
c.549G>C
c.2002G>C (p.Glu668Gln)
c.1996G>C (p.Glu666Gln)
c.1981G>C (p.Glu661Gln)
c.2074G>C (p.Glu692Gln)
c.1999G>C (p.Glu667Gln)
c.1957G>C (p.Glu653Gln)
c.484G>C (p.Glu162Gln)
c.2059G>C (p.Glu687Gln)
c.2038G>C (p.Glu680Gln)
c.1843G>C (p.Glu615Gln)
c.1900G>C (p.Glu634Gln)
n.2094G>C
n.2001G>C
7g.81974491C>TCA4317777CACNA2D1c.2053G>A (p.Glu685Lys)
c.1784G>A
c.1897G>A (p.Glu633Lys)
c.2017G>A (p.Glu673Lys)
c.549G>A
c.2002G>A (p.Glu668Lys)
c.1996G>A (p.Glu666Lys)
c.1981G>A (p.Glu661Lys)
c.2074G>A (p.Glu692Lys)
c.1999G>A (p.Glu667Lys)
c.1957G>A (p.Glu653Lys)
c.484G>A (p.Glu162Lys)
c.2059G>A (p.Glu687Lys)
c.2038G>A (p.Glu680Lys)
c.1843G>A (p.Glu615Lys)
c.1900G>A (p.Glu634Lys)
n.2094G>A
n.2001G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.81974492G>ACA4317778CACNA2D1c.2052C>T (p.Asn684=)
c.1783C>T
c.1896C>T (p.Asn632=)
c.2016C>T (p.Asn672=)
c.548C>T
c.2001C>T (p.Asn667=)
c.1995C>T (p.Asn665=)
c.1980C>T (p.Asn660=)
c.2073C>T (p.Asn691=)
c.1998C>T (p.Asn666=)
c.1956C>T (p.Asn652=)
c.483C>T (p.Asn161=)
c.2058C>T (p.Asn686=)
c.2037C>T (p.Asn679=)
c.1842C>T (p.Asn614=)
c.1899C>T (p.Asn633=)
n.2093C>T
n.2000C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
7g.81974492G>CCA367892657CACNA2D1c.2052C>G (p.Asn684Lys)
c.1783C>G
c.1896C>G (p.Asn632Lys)
c.2016C>G (p.Asn672Lys)
c.548C>G
c.2001C>G (p.Asn667Lys)
c.1995C>G (p.Asn665Lys)
c.1980C>G (p.Asn660Lys)
c.2073C>G (p.Asn691Lys)
c.1998C>G (p.Asn666Lys)
c.1956C>G (p.Asn652Lys)
c.483C>G (p.Asn161Lys)
c.2058C>G (p.Asn686Lys)
c.2037C>G (p.Asn679Lys)
c.1842C>G (p.Asn614Lys)
c.1899C>G (p.Asn633Lys)
n.2093C>G
n.2000C>G
7g.81974492G=CA1720999290CACNA2D1c.2052C= (p.Asn684=)
c.1783C=
c.1896C= (p.Asn632=)
c.2016C= (p.Asn672=)
c.548C=
c.2001C= (p.Asn667=)
c.1995C= (p.Asn665=)
c.1980C= (p.Asn660=)
c.2073C= (p.Asn691=)
c.1998C= (p.Asn666=)
c.1956C= (p.Asn652=)
c.483C= (p.Asn161=)
c.2058C= (p.Asn686=)
c.2037C= (p.Asn679=)
c.1842C= (p.Asn614=)
c.1899C= (p.Asn633=)
n.2093C=
n.2000C=
7g.81974492G>TCA367892655CACNA2D1c.2052C>A (p.Asn684Lys)
c.1783C>A
c.1896C>A (p.Asn632Lys)
c.2016C>A (p.Asn672Lys)
c.548C>A
c.2001C>A (p.Asn667Lys)
c.1995C>A (p.Asn665Lys)
c.1980C>A (p.Asn660Lys)
c.2073C>A (p.Asn691Lys)
c.1998C>A (p.Asn666Lys)
c.1956C>A (p.Asn652Lys)
c.483C>A (p.Asn161Lys)
c.2058C>A (p.Asn686Lys)
c.2037C>A (p.Asn679Lys)
c.1842C>A (p.Asn614Lys)
c.1899C>A (p.Asn633Lys)
n.2093C>A
n.2000C>A
 gnomAD v4
7g.81974493T>ACA367892661CACNA2D1c.2051A>T (p.Asn684Ile)
c.1782A>T
c.1895A>T (p.Asn632Ile)
c.2015A>T (p.Asn672Ile)
c.547A>T
c.2000A>T (p.Asn667Ile)
c.1994A>T (p.Asn665Ile)
c.1979A>T (p.Asn660Ile)
c.2072A>T (p.Asn691Ile)
c.1997A>T (p.Asn666Ile)
c.1955A>T (p.Asn652Ile)
c.482A>T (p.Asn161Ile)
c.2057A>T (p.Asn686Ile)
c.2036A>T (p.Asn679Ile)
c.1841A>T (p.Asn614Ile)
c.1898A>T (p.Asn633Ile)
n.2092A>T
n.1999A>T
7g.81974493T>CCA367892665CACNA2D1c.2051A>G (p.Asn684Ser)
c.1782A>G
c.1895A>G (p.Asn632Ser)
c.2015A>G (p.Asn672Ser)
c.547A>G
c.2000A>G (p.Asn667Ser)
c.1994A>G (p.Asn665Ser)
c.1979A>G (p.Asn660Ser)
c.2072A>G (p.Asn691Ser)
c.1997A>G (p.Asn666Ser)
c.1955A>G (p.Asn652Ser)
c.482A>G (p.Asn161Ser)
c.2057A>G (p.Asn686Ser)
c.2036A>G (p.Asn679Ser)
c.1841A>G (p.Asn614Ser)
c.1898A>G (p.Asn633Ser)
n.2092A>G
n.1999A>G
7g.81974493T>GCA367892663CACNA2D1c.2051A>C (p.Asn684Thr)
c.1782A>C
c.1895A>C (p.Asn632Thr)
c.2015A>C (p.Asn672Thr)
c.547A>C
c.2000A>C (p.Asn667Thr)
c.1994A>C (p.Asn665Thr)
c.1979A>C (p.Asn660Thr)
c.2072A>C (p.Asn691Thr)
c.1997A>C (p.Asn666Thr)
c.1955A>C (p.Asn652Thr)
c.482A>C (p.Asn161Thr)
c.2057A>C (p.Asn686Thr)
c.2036A>C (p.Asn679Thr)
c.1841A>C (p.Asn614Thr)
c.1898A>C (p.Asn633Thr)
n.2092A>C
n.1999A>C
7g.81974494delCA2683539820CACNA2D1c.2051del (p.Asn684ThrfsTer18)
c.1782del
c.1895del (p.Asn632ThrfsTer18)
c.2015del (p.Asn672ThrfsTer18)
c.547del
c.2000del (p.Asn667ThrfsTer18)
c.1994del (p.Asn665ThrfsTer18)
c.1979del (p.Asn660ThrfsTer18)
c.2072del (p.Asn691ThrfsTer18)
c.1997del (p.Asn666ThrfsTer18)
c.1955del (p.Asn652ThrfsTer18)
c.482del (p.Asn161ThrfsTer18)
c.2057del (p.Asn686ThrfsTer18)
c.2036del (p.Asn679ThrfsTer18)
c.1841del (p.Asn614ThrfsTer18)
c.1898del (p.Asn633ThrfsTer18)
n.2092del
n.1999del
 gnomAD v4
7g.81974494T>ACA367892668CACNA2D1c.2050A>T (p.Asn684Tyr)
c.1781A>T
c.1894A>T (p.Asn632Tyr)
c.2014A>T (p.Asn672Tyr)
c.546A>T
c.1999A>T (p.Asn667Tyr)
c.1993A>T (p.Asn665Tyr)
c.1978A>T (p.Asn660Tyr)
c.2071A>T (p.Asn691Tyr)
c.1996A>T (p.Asn666Tyr)
c.1954A>T (p.Asn652Tyr)
c.481A>T (p.Asn161Tyr)
c.2056A>T (p.Asn686Tyr)
c.2035A>T (p.Asn679Tyr)
c.1840A>T (p.Asn614Tyr)
c.1897A>T (p.Asn633Tyr)
n.2091A>T
n.1998A>T
7g.81974494T>CCA367892670CACNA2D1c.2050A>G (p.Asn684Asp)
c.1781A>G
c.1894A>G (p.Asn632Asp)
c.2014A>G (p.Asn672Asp)
c.546A>G
c.1999A>G (p.Asn667Asp)
c.1993A>G (p.Asn665Asp)
c.1978A>G (p.Asn660Asp)
c.2071A>G (p.Asn691Asp)
c.1996A>G (p.Asn666Asp)
c.1954A>G (p.Asn652Asp)
c.481A>G (p.Asn161Asp)
c.2056A>G (p.Asn686Asp)
c.2035A>G (p.Asn679Asp)
c.1840A>G (p.Asn614Asp)
c.1897A>G (p.Asn633Asp)
n.2091A>G
n.1998A>G
7g.81974494T>GCA367892672CACNA2D1c.2050A>C (p.Asn684His)
c.1781A>C
c.1894A>C (p.Asn632His)
c.2014A>C (p.Asn672His)
c.546A>C
c.1999A>C (p.Asn667His)
c.1993A>C (p.Asn665His)
c.1978A>C (p.Asn660His)
c.2071A>C (p.Asn691His)
c.1996A>C (p.Asn666His)
c.1954A>C (p.Asn652His)
c.481A>C (p.Asn161His)
c.2056A>C (p.Asn686His)
c.2035A>C (p.Asn679His)
c.1840A>C (p.Asn614His)
c.1897A>C (p.Asn633His)
n.2091A>C
n.1998A>C
7g.81974495G>ACA456132673CACNA2D1c.2049C>T (p.Phe683=)
c.1780C>T
c.1893C>T (p.Phe631=)
c.2013C>T (p.Phe671=)
c.545C>T
c.1998C>T (p.Phe666=)
c.1992C>T (p.Phe664=)
c.1977C>T (p.Phe659=)
c.2070C>T (p.Phe690=)
c.1995C>T (p.Phe665=)
c.1953C>T (p.Phe651=)
c.480C>T (p.Phe160=)
c.2055C>T (p.Phe685=)
c.2034C>T (p.Phe678=)
c.1839C>T (p.Phe613=)
c.1896C>T (p.Phe632=)
n.2090C>T
n.1997C>T
7g.81974495G>CCA367892674CACNA2D1c.2049C>G (p.Phe683Leu)
c.1780C>G
c.1893C>G (p.Phe631Leu)
c.2013C>G (p.Phe671Leu)
c.545C>G
c.1998C>G (p.Phe666Leu)
c.1992C>G (p.Phe664Leu)
c.1977C>G (p.Phe659Leu)
c.2070C>G (p.Phe690Leu)
c.1995C>G (p.Phe665Leu)
c.1953C>G (p.Phe651Leu)
c.480C>G (p.Phe160Leu)
c.2055C>G (p.Phe685Leu)
c.2034C>G (p.Phe678Leu)
c.1839C>G (p.Phe613Leu)
c.1896C>G (p.Phe632Leu)
n.2090C>G
n.1997C>G
7g.81974495G>TCA367892677CACNA2D1c.2049C>A (p.Phe683Leu)
c.1780C>A
c.1893C>A (p.Phe631Leu)
c.2013C>A (p.Phe671Leu)
c.545C>A
c.1998C>A (p.Phe666Leu)
c.1992C>A (p.Phe664Leu)
c.1977C>A (p.Phe659Leu)
c.2070C>A (p.Phe690Leu)
c.1995C>A (p.Phe665Leu)
c.1953C>A (p.Phe651Leu)
c.480C>A (p.Phe160Leu)
c.2055C>A (p.Phe685Leu)
c.2034C>A (p.Phe678Leu)
c.1839C>A (p.Phe613Leu)
c.1896C>A (p.Phe632Leu)
n.2090C>A
n.1997C>A
 gnomAD v4
7g.81974496A>CCA367892680CACNA2D1c.2048T>G (p.Phe683Cys)
c.1779T>G
c.1892T>G (p.Phe631Cys)
c.2012T>G (p.Phe671Cys)
c.544T>G
c.1997T>G (p.Phe666Cys)
c.1991T>G (p.Phe664Cys)
c.1976T>G (p.Phe659Cys)
c.2069T>G (p.Phe690Cys)
c.1994T>G (p.Phe665Cys)
c.1952T>G (p.Phe651Cys)
c.479T>G (p.Phe160Cys)
c.2054T>G (p.Phe685Cys)
c.2033T>G (p.Phe678Cys)
c.1838T>G (p.Phe613Cys)
c.1895T>G (p.Phe632Cys)
n.2089T>G
n.1996T>G
7g.81974496A>GCA367892682CACNA2D1c.2048T>C (p.Phe683Ser)
c.1779T>C
c.1892T>C (p.Phe631Ser)
c.2012T>C (p.Phe671Ser)
c.544T>C
c.1997T>C (p.Phe666Ser)
c.1991T>C (p.Phe664Ser)
c.1976T>C (p.Phe659Ser)
c.2069T>C (p.Phe690Ser)
c.1994T>C (p.Phe665Ser)
c.1952T>C (p.Phe651Ser)
c.479T>C (p.Phe160Ser)
c.2054T>C (p.Phe685Ser)
c.2033T>C (p.Phe678Ser)
c.1838T>C (p.Phe613Ser)
c.1895T>C (p.Phe632Ser)
n.2089T>C
n.1996T>C
7g.81974496A>TCA367892684CACNA2D1c.2048T>A (p.Phe683Tyr)
c.1779T>A
c.1892T>A (p.Phe631Tyr)
c.2012T>A (p.Phe671Tyr)
c.544T>A
c.1997T>A (p.Phe666Tyr)
c.1991T>A (p.Phe664Tyr)
c.1976T>A (p.Phe659Tyr)
c.2069T>A (p.Phe690Tyr)
c.1994T>A (p.Phe665Tyr)
c.1952T>A (p.Phe651Tyr)
c.479T>A (p.Phe160Tyr)
c.2054T>A (p.Phe685Tyr)
c.2033T>A (p.Phe678Tyr)
c.1838T>A (p.Phe613Tyr)
c.1895T>A (p.Phe632Tyr)
n.2089T>A
n.1996T>A
 gnomAD v4
7g.81974497A>CCA367892687CACNA2D1c.2047T>G (p.Phe683Val)
c.1778T>G
c.1891T>G (p.Phe631Val)
c.2011T>G (p.Phe671Val)
c.543T>G
c.1996T>G (p.Phe666Val)
c.1990T>G (p.Phe664Val)
c.1975T>G (p.Phe659Val)
c.2068T>G (p.Phe690Val)
c.1993T>G (p.Phe665Val)
c.1951T>G (p.Phe651Val)
c.478T>G (p.Phe160Val)
c.2053T>G (p.Phe685Val)
c.2032T>G (p.Phe678Val)
c.1837T>G (p.Phe613Val)
c.1894T>G (p.Phe632Val)
n.2088T>G
n.1995T>G
7g.81974497A>GCA367892688CACNA2D1c.2047T>C (p.Phe683Leu)
c.1778T>C
c.1891T>C (p.Phe631Leu)
c.2011T>C (p.Phe671Leu)
c.543T>C
c.1996T>C (p.Phe666Leu)
c.1990T>C (p.Phe664Leu)
c.1975T>C (p.Phe659Leu)
c.2068T>C (p.Phe690Leu)
c.1993T>C (p.Phe665Leu)
c.1951T>C (p.Phe651Leu)
c.478T>C (p.Phe160Leu)
c.2053T>C (p.Phe685Leu)
c.2032T>C (p.Phe678Leu)
c.1837T>C (p.Phe613Leu)
c.1894T>C (p.Phe632Leu)
n.2088T>C
n.1995T>C
 gnomAD v4
7g.81974497A>TCA367892690CACNA2D1c.2047T>A (p.Phe683Ile)
c.1778T>A
c.1891T>A (p.Phe631Ile)
c.2011T>A (p.Phe671Ile)
c.543T>A
c.1996T>A (p.Phe666Ile)
c.1990T>A (p.Phe664Ile)
c.1975T>A (p.Phe659Ile)
c.2068T>A (p.Phe690Ile)
c.1993T>A (p.Phe665Ile)
c.1951T>A (p.Phe651Ile)
c.478T>A (p.Phe160Ile)
c.2053T>A (p.Phe685Ile)
c.2032T>A (p.Phe678Ile)
c.1837T>A (p.Phe613Ile)
c.1894T>A (p.Phe632Ile)
n.2088T>A
n.1995T>A
7g.81974498A>CCA367892692CACNA2D1c.2046T>G (p.Asn682Lys)
c.1777T>G
c.1890T>G (p.Asn630Lys)
c.2010T>G (p.Asn670Lys)
c.542T>G
c.1995T>G (p.Asn665Lys)
c.1989T>G (p.Asn663Lys)
c.1974T>G (p.Asn658Lys)
c.2067T>G (p.Asn689Lys)
c.1992T>G (p.Asn664Lys)
c.1950T>G (p.Asn650Lys)
c.477T>G (p.Asn159Lys)
c.2052T>G (p.Asn684Lys)
c.2031T>G (p.Asn677Lys)
c.1836T>G (p.Asn612Lys)
c.1893T>G (p.Asn631Lys)
n.2087T>G
n.1994T>G
7g.81974498A>GCA456132677CACNA2D1c.2046T>C (p.Asn682=)
c.1777T>C
c.1890T>C (p.Asn630=)
c.2010T>C (p.Asn670=)
c.542T>C
c.1995T>C (p.Asn665=)
c.1989T>C (p.Asn663=)
c.1974T>C (p.Asn658=)
c.2067T>C (p.Asn689=)
c.1992T>C (p.Asn664=)
c.1950T>C (p.Asn650=)
c.477T>C (p.Asn159=)
c.2052T>C (p.Asn684=)
c.2031T>C (p.Asn677=)
c.1836T>C (p.Asn612=)
c.1893T>C (p.Asn631=)
n.2087T>C
n.1994T>C
 gnomAD v4
7g.81974498A>TCA367892694CACNA2D1c.2046T>A (p.Asn682Lys)
c.1777T>A
c.1890T>A (p.Asn630Lys)
c.2010T>A (p.Asn670Lys)
c.542T>A
c.1995T>A (p.Asn665Lys)
c.1989T>A (p.Asn663Lys)
c.1974T>A (p.Asn658Lys)
c.2067T>A (p.Asn689Lys)
c.1992T>A (p.Asn664Lys)
c.1950T>A (p.Asn650Lys)
c.477T>A (p.Asn159Lys)
c.2052T>A (p.Asn684Lys)
c.2031T>A (p.Asn677Lys)
c.1836T>A (p.Asn612Lys)
c.1893T>A (p.Asn631Lys)
n.2087T>A
n.1994T>A
7g.81974499T>ACA367892697CACNA2D1c.2045A>T (p.Asn682Ile)
c.1776A>T
c.1889A>T (p.Asn630Ile)
c.2009A>T (p.Asn670Ile)
c.541A>T
c.1994A>T (p.Asn665Ile)
c.1988A>T (p.Asn663Ile)
c.1973A>T (p.Asn658Ile)
c.2066A>T (p.Asn689Ile)
c.1991A>T (p.Asn664Ile)
c.1949A>T (p.Asn650Ile)
c.476A>T (p.Asn159Ile)
c.2051A>T (p.Asn684Ile)
c.2030A>T (p.Asn677Ile)
c.1835A>T (p.Asn612Ile)
c.1892A>T (p.Asn631Ile)
n.2086A>T
n.1993A>T
7g.81974499T>CCA367892701CACNA2D1c.2045A>G (p.Asn682Ser)
c.1776A>G
c.1889A>G (p.Asn630Ser)
c.2009A>G (p.Asn670Ser)
c.541A>G
c.1994A>G (p.Asn665Ser)
c.1988A>G (p.Asn663Ser)
c.1973A>G (p.Asn658Ser)
c.2066A>G (p.Asn689Ser)
c.1991A>G (p.Asn664Ser)
c.1949A>G (p.Asn650Ser)
c.476A>G (p.Asn159Ser)
c.2051A>G (p.Asn684Ser)
c.2030A>G (p.Asn677Ser)
c.1835A>G (p.Asn612Ser)
c.1892A>G (p.Asn631Ser)
n.2086A>G
n.1993A>G
 gnomAD v4
7g.81974499T>GCA367892699CACNA2D1c.2045A>C (p.Asn682Thr)
c.1776A>C
c.1889A>C (p.Asn630Thr)
c.2009A>C (p.Asn670Thr)
c.541A>C
c.1994A>C (p.Asn665Thr)
c.1988A>C (p.Asn663Thr)
c.1973A>C (p.Asn658Thr)
c.2066A>C (p.Asn689Thr)
c.1991A>C (p.Asn664Thr)
c.1949A>C (p.Asn650Thr)
c.476A>C (p.Asn159Thr)
c.2051A>C (p.Asn684Thr)
c.2030A>C (p.Asn677Thr)
c.1835A>C (p.Asn612Thr)
c.1892A>C (p.Asn631Thr)
n.2086A>C
n.1993A>C
7g.81974500T>ACA367892704CACNA2D1c.2044A>T (p.Asn682Tyr)
c.1775A>T
c.1888A>T (p.Asn630Tyr)
c.2008A>T (p.Asn670Tyr)
c.540A>T
c.1993A>T (p.Asn665Tyr)
c.1987A>T (p.Asn663Tyr)
c.1972A>T (p.Asn658Tyr)
c.2065A>T (p.Asn689Tyr)
c.1990A>T (p.Asn664Tyr)
c.1948A>T (p.Asn650Tyr)
c.475A>T (p.Asn159Tyr)
c.2050A>T (p.Asn684Tyr)
c.2029A>T (p.Asn677Tyr)
c.1834A>T (p.Asn612Tyr)
c.1891A>T (p.Asn631Tyr)
n.2085A>T
n.1992A>T
7g.81974500T>CCA367892706CACNA2D1c.2044A>G (p.Asn682Asp)
c.1775A>G
c.1888A>G (p.Asn630Asp)
c.2008A>G (p.Asn670Asp)
c.540A>G
c.1993A>G (p.Asn665Asp)
c.1987A>G (p.Asn663Asp)
c.1972A>G (p.Asn658Asp)
c.2065A>G (p.Asn689Asp)
c.1990A>G (p.Asn664Asp)
c.1948A>G (p.Asn650Asp)
c.475A>G (p.Asn159Asp)
c.2050A>G (p.Asn684Asp)
c.2029A>G (p.Asn677Asp)
c.1834A>G (p.Asn612Asp)
c.1891A>G (p.Asn631Asp)
n.2085A>G
n.1992A>G
 gnomAD v4
7g.81974500T>GCA367892708CACNA2D1c.2044A>C (p.Asn682His)
c.1775A>C
c.1888A>C (p.Asn630His)
c.2008A>C (p.Asn670His)
c.540A>C
c.1993A>C (p.Asn665His)
c.1987A>C (p.Asn663His)
c.1972A>C (p.Asn658His)
c.2065A>C (p.Asn689His)
c.1990A>C (p.Asn664His)
c.1948A>C (p.Asn650His)
c.475A>C (p.Asn159His)
c.2050A>C (p.Asn684His)
c.2029A>C (p.Asn677His)
c.1834A>C (p.Asn612His)
c.1891A>C (p.Asn631His)
n.2085A>C
n.1992A>C
7g.81974501T>ACA367892711CACNA2D1c.2043A>T (p.Leu681Phe)
c.1774A>T
c.1887A>T (p.Leu629Phe)
c.2007A>T (p.Leu669Phe)
c.539A>T
c.1992A>T (p.Leu664Phe)
c.1986A>T (p.Leu662Phe)
c.1971A>T (p.Leu657Phe)
c.2064A>T (p.Leu688Phe)
c.1989A>T (p.Leu663Phe)
c.1947A>T (p.Leu649Phe)
c.474A>T (p.Leu158Phe)
c.2049A>T (p.Leu683Phe)
c.2028A>T (p.Leu676Phe)
c.1833A>T (p.Leu611Phe)
c.1890A>T (p.Leu630Phe)
n.2084A>T
n.1991A>T
7g.81974501T>CCA456132688CACNA2D1c.2043A>G (p.Leu681=)
c.1774A>G
c.1887A>G (p.Leu629=)
c.2007A>G (p.Leu669=)
c.539A>G
c.1992A>G (p.Leu664=)
c.1986A>G (p.Leu662=)
c.1971A>G (p.Leu657=)
c.2064A>G (p.Leu688=)
c.1989A>G (p.Leu663=)
c.1947A>G (p.Leu649=)
c.474A>G (p.Leu158=)
c.2049A>G (p.Leu683=)
c.2028A>G (p.Leu676=)
c.1833A>G (p.Leu611=)
c.1890A>G (p.Leu630=)
n.2084A>G
n.1991A>G
7g.81974501T>GCA367892713CACNA2D1c.2043A>C (p.Leu681Phe)
c.1774A>C
c.1887A>C (p.Leu629Phe)
c.2007A>C (p.Leu669Phe)
c.539A>C
c.1992A>C (p.Leu664Phe)
c.1986A>C (p.Leu662Phe)
c.1971A>C (p.Leu657Phe)
c.2064A>C (p.Leu688Phe)
c.1989A>C (p.Leu663Phe)
c.1947A>C (p.Leu649Phe)
c.474A>C (p.Leu158Phe)
c.2049A>C (p.Leu683Phe)
c.2028A>C (p.Leu676Phe)
c.1833A>C (p.Leu611Phe)
c.1890A>C (p.Leu630Phe)
n.2084A>C
n.1991A>C
7g.81974502A>CCA367892716CACNA2D1c.2042T>G (p.Leu681Ter)
c.1773T>G
c.1886T>G (p.Leu629Ter)
c.2006T>G (p.Leu669Ter)
c.538T>G
c.1991T>G (p.Leu664Ter)
c.1985T>G (p.Leu662Ter)
c.1970T>G (p.Leu657Ter)
c.2063T>G (p.Leu688Ter)
c.1988T>G (p.Leu663Ter)
c.1946T>G (p.Leu649Ter)
c.473T>G (p.Leu158Ter)
c.2048T>G (p.Leu683Ter)
c.2027T>G (p.Leu676Ter)
c.1832T>G (p.Leu611Ter)
c.1889T>G (p.Leu630Ter)
n.2083T>G
n.1990T>G
7g.81974502A>GCA367892717CACNA2D1c.2042T>C (p.Leu681Ser)
c.1773T>C
c.1886T>C (p.Leu629Ser)
c.2006T>C (p.Leu669Ser)
c.538T>C
c.1991T>C (p.Leu664Ser)
c.1985T>C (p.Leu662Ser)
c.1970T>C (p.Leu657Ser)
c.2063T>C (p.Leu688Ser)
c.1988T>C (p.Leu663Ser)
c.1946T>C (p.Leu649Ser)
c.473T>C (p.Leu158Ser)
c.2048T>C (p.Leu683Ser)
c.2027T>C (p.Leu676Ser)
c.1832T>C (p.Leu611Ser)
c.1889T>C (p.Leu630Ser)
n.2083T>C
n.1990T>C
 gnomAD v4
7g.81974502A>TCA367892719CACNA2D1c.2042T>A (p.Leu681Ter)
c.1773T>A
c.1886T>A (p.Leu629Ter)
c.2006T>A (p.Leu669Ter)
c.538T>A
c.1991T>A (p.Leu664Ter)
c.1985T>A (p.Leu662Ter)
c.1970T>A (p.Leu657Ter)
c.2063T>A (p.Leu688Ter)
c.1988T>A (p.Leu663Ter)
c.1946T>A (p.Leu649Ter)
c.473T>A (p.Leu158Ter)
c.2048T>A (p.Leu683Ter)
c.2027T>A (p.Leu676Ter)
c.1832T>A (p.Leu611Ter)
c.1889T>A (p.Leu630Ter)
n.2083T>A
n.1990T>A
7g.81974503A>CCA367892722CACNA2D1c.2041T>G (p.Leu681Val)
c.1772T>G
c.1885T>G (p.Leu629Val)
c.2005T>G (p.Leu669Val)
c.537T>G
c.1990T>G (p.Leu664Val)
c.1984T>G (p.Leu662Val)
c.1969T>G (p.Leu657Val)
c.2062T>G (p.Leu688Val)
c.1987T>G (p.Leu663Val)
c.1945T>G (p.Leu649Val)
c.472T>G (p.Leu158Val)
c.2047T>G (p.Leu683Val)
c.2026T>G (p.Leu676Val)
c.1831T>G (p.Leu611Val)
c.1888T>G (p.Leu630Val)
n.2082T>G
n.1989T>G
7g.81974503A>GCA456132690CACNA2D1c.2041T>C (p.Leu681=)
c.1772T>C
c.1885T>C (p.Leu629=)
c.2005T>C (p.Leu669=)
c.537T>C
c.1990T>C (p.Leu664=)
c.1984T>C (p.Leu662=)
c.1969T>C (p.Leu657=)
c.2062T>C (p.Leu688=)
c.1987T>C (p.Leu663=)
c.1945T>C (p.Leu649=)
c.472T>C (p.Leu158=)
c.2047T>C (p.Leu683=)
c.2026T>C (p.Leu676=)
c.1831T>C (p.Leu611=)
c.1888T>C (p.Leu630=)
n.2082T>C
n.1989T>C
7g.81974503A>TCA367892724CACNA2D1c.2041T>A (p.Leu681Ile)
c.1772T>A
c.1885T>A (p.Leu629Ile)
c.2005T>A (p.Leu669Ile)
c.537T>A
c.1990T>A (p.Leu664Ile)
c.1984T>A (p.Leu662Ile)
c.1969T>A (p.Leu657Ile)
c.2062T>A (p.Leu688Ile)
c.1987T>A (p.Leu663Ile)
c.1945T>A (p.Leu649Ile)
c.472T>A (p.Leu158Ile)
c.2047T>A (p.Leu683Ile)
c.2026T>A (p.Leu676Ile)
c.1831T>A (p.Leu611Ile)
c.1888T>A (p.Leu630Ile)
n.2082T>A
n.1989T>A
7g.81974504A>CCA456132697CACNA2D1c.2040T>G (p.Leu680=)
c.1771T>G
c.1884T>G (p.Leu628=)
c.2004T>G (p.Leu668=)
c.536T>G
c.1989T>G (p.Leu663=)
c.1983T>G (p.Leu661=)
c.1968T>G (p.Leu656=)
c.2061T>G (p.Leu687=)
c.1986T>G (p.Leu662=)
c.1944T>G (p.Leu648=)
c.471T>G (p.Leu157=)
c.2046T>G (p.Leu682=)
c.2025T>G (p.Leu675=)
c.1830T>G (p.Leu610=)
c.1887T>G (p.Leu629=)
n.2081T>G
n.1988T>G
7g.81974504A>GCA456132698CACNA2D1c.2040T>C (p.Leu680=)
c.1771T>C
c.1884T>C (p.Leu628=)
c.2004T>C (p.Leu668=)
c.536T>C
c.1989T>C (p.Leu663=)
c.1983T>C (p.Leu661=)
c.1968T>C (p.Leu656=)
c.2061T>C (p.Leu687=)
c.1986T>C (p.Leu662=)
c.1944T>C (p.Leu648=)
c.471T>C (p.Leu157=)
c.2046T>C (p.Leu682=)
c.2025T>C (p.Leu675=)
c.1830T>C (p.Leu610=)
c.1887T>C (p.Leu629=)
n.2081T>C
n.1988T>C
 gnomAD v4
7g.81974504A>TCA456132700CACNA2D1c.2040T>A (p.Leu680=)
c.1771T>A
c.1884T>A (p.Leu628=)
c.2004T>A (p.Leu668=)
c.536T>A
c.1989T>A (p.Leu663=)
c.1983T>A (p.Leu661=)
c.1968T>A (p.Leu656=)
c.2061T>A (p.Leu687=)
c.1986T>A (p.Leu662=)
c.1944T>A (p.Leu648=)
c.471T>A (p.Leu157=)
c.2046T>A (p.Leu682=)
c.2025T>A (p.Leu675=)
c.1830T>A (p.Leu610=)
c.1887T>A (p.Leu629=)
n.2081T>A
n.1988T>A
7g.81974505A=CA1720999293CACNA2D1c.2039T= (p.Leu680=)
c.1770T=
c.1883T= (p.Leu628=)
c.2003T= (p.Leu668=)
c.535T=
c.1988T= (p.Leu663=)
c.1982T= (p.Leu661=)
c.1967T= (p.Leu656=)
c.2060T= (p.Leu687=)
c.1985T= (p.Leu662=)
c.1943T= (p.Leu648=)
c.470T= (p.Leu157=)
c.2045T= (p.Leu682=)
c.2024T= (p.Leu675=)
c.1829T= (p.Leu610=)
c.1886T= (p.Leu629=)
n.2080T=
n.1987T=
7g.81974505A>CCA367892730CACNA2D1c.2039T>G (p.Leu680Arg)
c.1770T>G
c.1883T>G (p.Leu628Arg)
c.2003T>G (p.Leu668Arg)
c.535T>G
c.1988T>G (p.Leu663Arg)
c.1982T>G (p.Leu661Arg)
c.1967T>G (p.Leu656Arg)
c.2060T>G (p.Leu687Arg)
c.1985T>G (p.Leu662Arg)
c.1943T>G (p.Leu648Arg)
c.470T>G (p.Leu157Arg)
c.2045T>G (p.Leu682Arg)
c.2024T>G (p.Leu675Arg)
c.1829T>G (p.Leu610Arg)
c.1886T>G (p.Leu629Arg)
n.2080T>G
n.1987T>G
 dbSNP
7g.81974505A>GCA367892729CACNA2D1c.2039T>C (p.Leu680Pro)
c.1770T>C
c.1883T>C (p.Leu628Pro)
c.2003T>C (p.Leu668Pro)
c.535T>C
c.1988T>C (p.Leu663Pro)
c.1982T>C (p.Leu661Pro)
c.1967T>C (p.Leu656Pro)
c.2060T>C (p.Leu687Pro)
c.1985T>C (p.Leu662Pro)
c.1943T>C (p.Leu648Pro)
c.470T>C (p.Leu157Pro)
c.2045T>C (p.Leu682Pro)
c.2024T>C (p.Leu675Pro)
c.1829T>C (p.Leu610Pro)
c.1886T>C (p.Leu629Pro)
n.2080T>C
n.1987T>C
7g.81974505A>TCA367892727CACNA2D1c.2039T>A (p.Leu680His)
c.1770T>A
c.1883T>A (p.Leu628His)
c.2003T>A (p.Leu668His)
c.535T>A
c.1988T>A (p.Leu663His)
c.1982T>A (p.Leu661His)
c.1967T>A (p.Leu656His)
c.2060T>A (p.Leu687His)
c.1985T>A (p.Leu662His)
c.1943T>A (p.Leu648His)
c.470T>A (p.Leu157His)
c.2045T>A (p.Leu682His)
c.2024T>A (p.Leu675His)
c.1829T>A (p.Leu610His)
c.1886T>A (p.Leu629His)
n.2080T>A
n.1987T>A
 gnomAD v4
7g.81974506G>ACA367892732CACNA2D1c.2038C>T (p.Leu680Phe)
c.1769C>T
c.1882C>T (p.Leu628Phe)
c.2002C>T (p.Leu668Phe)
c.534C>T
c.1987C>T (p.Leu663Phe)
c.1981C>T (p.Leu661Phe)
c.1966C>T (p.Leu656Phe)
c.2059C>T (p.Leu687Phe)
c.1984C>T (p.Leu662Phe)
c.1942C>T (p.Leu648Phe)
c.469C>T (p.Leu157Phe)
c.2044C>T (p.Leu682Phe)
c.2023C>T (p.Leu675Phe)
c.1828C>T (p.Leu610Phe)
c.1885C>T (p.Leu629Phe)
n.2079C>T
n.1986C>T
 gnomAD v4
7g.81974506G>CCA367892734CACNA2D1c.2038C>G (p.Leu680Val)
c.1769C>G
c.1882C>G (p.Leu628Val)
c.2002C>G (p.Leu668Val)
c.534C>G
c.1987C>G (p.Leu663Val)
c.1981C>G (p.Leu661Val)
c.1966C>G (p.Leu656Val)
c.2059C>G (p.Leu687Val)
c.1984C>G (p.Leu662Val)
c.1942C>G (p.Leu648Val)
c.469C>G (p.Leu157Val)
c.2044C>G (p.Leu682Val)
c.2023C>G (p.Leu675Val)
c.1828C>G (p.Leu610Val)
c.1885C>G (p.Leu629Val)
n.2079C>G
n.1986C>G
7g.81974506G>TCA367892736CACNA2D1c.2038C>A (p.Leu680Ile)
c.1769C>A
c.1882C>A (p.Leu628Ile)
c.2002C>A (p.Leu668Ile)
c.534C>A
c.1987C>A (p.Leu663Ile)
c.1981C>A (p.Leu661Ile)
c.1966C>A (p.Leu656Ile)
c.2059C>A (p.Leu687Ile)
c.1984C>A (p.Leu662Ile)
c.1942C>A (p.Leu648Ile)
c.469C>A (p.Leu157Ile)
c.2044C>A (p.Leu682Ile)
c.2023C>A (p.Leu675Ile)
c.1828C>A (p.Leu610Ile)
c.1885C>A (p.Leu629Ile)
n.2079C>A
n.1986C>A
 gnomAD v4
7g.81974507A>CCA367892739CACNA2D1c.2037T>G (p.Phe679Leu)
c.1768T>G
c.1881T>G (p.Phe627Leu)
c.2001T>G (p.Phe667Leu)
c.533T>G
c.1986T>G (p.Phe662Leu)
c.1980T>G (p.Phe660Leu)
c.1965T>G (p.Phe655Leu)
c.2058T>G (p.Phe686Leu)
c.1983T>G (p.Phe661Leu)
c.1941T>G (p.Phe647Leu)
c.468T>G (p.Phe156Leu)
c.2043T>G (p.Phe681Leu)
c.2022T>G (p.Phe674Leu)
c.1827T>G (p.Phe609Leu)
c.1884T>G (p.Phe628Leu)
n.2078T>G
n.1985T>G
7g.81974507A>GCA456132705CACNA2D1c.2037T>C (p.Phe679=)
c.1768T>C
c.1881T>C (p.Phe627=)
c.2001T>C (p.Phe667=)
c.533T>C
c.1986T>C (p.Phe662=)
c.1980T>C (p.Phe660=)
c.1965T>C (p.Phe655=)
c.2058T>C (p.Phe686=)
c.1983T>C (p.Phe661=)
c.1941T>C (p.Phe647=)
c.468T>C (p.Phe156=)
c.2043T>C (p.Phe681=)
c.2022T>C (p.Phe674=)
c.1827T>C (p.Phe609=)
c.1884T>C (p.Phe628=)
n.2078T>C
n.1985T>C
7g.81974507A>TCA367892741CACNA2D1c.2037T>A (p.Phe679Leu)
c.1768T>A
c.1881T>A (p.Phe627Leu)
c.2001T>A (p.Phe667Leu)
c.533T>A
c.1986T>A (p.Phe662Leu)
c.1980T>A (p.Phe660Leu)
c.1965T>A (p.Phe655Leu)
c.2058T>A (p.Phe686Leu)
c.1983T>A (p.Phe661Leu)
c.1941T>A (p.Phe647Leu)
c.468T>A (p.Phe156Leu)
c.2043T>A (p.Phe681Leu)
c.2022T>A (p.Phe674Leu)
c.1827T>A (p.Phe609Leu)
c.1884T>A (p.Phe628Leu)
n.2078T>A
n.1985T>A
7g.81974508A>CCA367892744CACNA2D1c.2036T>G (p.Phe679Cys)
c.1767T>G
c.1880T>G (p.Phe627Cys)
c.2000T>G (p.Phe667Cys)
c.532T>G
c.1985T>G (p.Phe662Cys)
c.1979T>G (p.Phe660Cys)
c.1964T>G (p.Phe655Cys)
c.2057T>G (p.Phe686Cys)
c.1982T>G (p.Phe661Cys)
c.1940T>G (p.Phe647Cys)
c.467T>G (p.Phe156Cys)
c.2042T>G (p.Phe681Cys)
c.2021T>G (p.Phe674Cys)
c.1826T>G (p.Phe609Cys)
c.1883T>G (p.Phe628Cys)
n.2077T>G
n.1984T>G
7g.81974508A>GCA367892746CACNA2D1c.2036T>C (p.Phe679Ser)
c.1767T>C
c.1880T>C (p.Phe627Ser)
c.2000T>C (p.Phe667Ser)
c.532T>C
c.1985T>C (p.Phe662Ser)
c.1979T>C (p.Phe660Ser)
c.1964T>C (p.Phe655Ser)
c.2057T>C (p.Phe686Ser)
c.1982T>C (p.Phe661Ser)
c.1940T>C (p.Phe647Ser)
c.467T>C (p.Phe156Ser)
c.2042T>C (p.Phe681Ser)
c.2021T>C (p.Phe674Ser)
c.1826T>C (p.Phe609Ser)
c.1883T>C (p.Phe628Ser)
n.2077T>C
n.1984T>C
 gnomAD v4
7g.81974508A>TCA367892748CACNA2D1c.2036T>A (p.Phe679Tyr)
c.1767T>A
c.1880T>A (p.Phe627Tyr)
c.2000T>A (p.Phe667Tyr)
c.532T>A
c.1985T>A (p.Phe662Tyr)
c.1979T>A (p.Phe660Tyr)
c.1964T>A (p.Phe655Tyr)
c.2057T>A (p.Phe686Tyr)
c.1982T>A (p.Phe661Tyr)
c.1940T>A (p.Phe647Tyr)
c.467T>A (p.Phe156Tyr)
c.2042T>A (p.Phe681Tyr)
c.2021T>A (p.Phe674Tyr)
c.1826T>A (p.Phe609Tyr)
c.1883T>A (p.Phe628Tyr)
n.2077T>A
n.1984T>A
7g.81974509A=CA1720999296CACNA2D1c.2035T= (p.Phe679=)
c.1766T=
c.1879T= (p.Phe627=)
c.1999T= (p.Phe667=)
c.531T=
c.1984T= (p.Phe662=)
c.1978T= (p.Phe660=)
c.1963T= (p.Phe655=)
c.2056T= (p.Phe686=)
c.1981T= (p.Phe661=)
c.1939T= (p.Phe647=)
c.466T= (p.Phe156=)
c.2041T= (p.Phe681=)
c.2020T= (p.Phe674=)
c.1825T= (p.Phe609=)
c.1882T= (p.Phe628=)
n.2076T=
n.1983T=
7g.81974509A>CCA367892750CACNA2D1c.2035T>G (p.Phe679Val)
c.1766T>G
c.1879T>G (p.Phe627Val)
c.1999T>G (p.Phe667Val)
c.531T>G
c.1984T>G (p.Phe662Val)
c.1978T>G (p.Phe660Val)
c.1963T>G (p.Phe655Val)
c.2056T>G (p.Phe686Val)
c.1981T>G (p.Phe661Val)
c.1939T>G (p.Phe647Val)
c.466T>G (p.Phe156Val)
c.2041T>G (p.Phe681Val)
c.2020T>G (p.Phe674Val)
c.1825T>G (p.Phe609Val)
c.1882T>G (p.Phe628Val)
n.2076T>G
n.1983T>G
7g.81974509A>GCA161125683CACNA2D1c.2035T>C (p.Phe679Leu)
c.1766T>C
c.1879T>C (p.Phe627Leu)
c.1999T>C (p.Phe667Leu)
c.531T>C
c.1984T>C (p.Phe662Leu)
c.1978T>C (p.Phe660Leu)
c.1963T>C (p.Phe655Leu)
c.2056T>C (p.Phe686Leu)
c.1981T>C (p.Phe661Leu)
c.1939T>C (p.Phe647Leu)
c.466T>C (p.Phe156Leu)
c.2041T>C (p.Phe681Leu)
c.2020T>C (p.Phe674Leu)
c.1825T>C (p.Phe609Leu)
c.1882T>C (p.Phe628Leu)
n.2076T>C
n.1983T>C
 dbSNP gnomAD v4
7g.81974509A>TCA367892753CACNA2D1c.2035T>A (p.Phe679Ile)
c.1766T>A
c.1879T>A (p.Phe627Ile)
c.1999T>A (p.Phe667Ile)
c.531T>A
c.1984T>A (p.Phe662Ile)
c.1978T>A (p.Phe660Ile)
c.1963T>A (p.Phe655Ile)
c.2056T>A (p.Phe686Ile)
c.1981T>A (p.Phe661Ile)
c.1939T>A (p.Phe647Ile)
c.466T>A (p.Phe156Ile)
c.2041T>A (p.Phe681Ile)
c.2020T>A (p.Phe674Ile)
c.1825T>A (p.Phe609Ile)
c.1882T>A (p.Phe628Ile)
n.2076T>A
n.1983T>A
7g.81974510T>ACA367892756CACNA2D1c.2034A>T (p.Glu678Asp)
c.1765A>T
c.1878A>T (p.Glu626Asp)
c.1998A>T (p.Glu666Asp)
c.530A>T
c.1983A>T (p.Glu661Asp)
c.1977A>T (p.Glu659Asp)
c.1962A>T (p.Glu654Asp)
c.2055A>T (p.Glu685Asp)
c.1980A>T (p.Glu660Asp)
c.1938A>T (p.Glu646Asp)
c.465A>T (p.Glu155Asp)
c.2040A>T (p.Glu680Asp)
c.2019A>T (p.Glu673Asp)
c.1824A>T (p.Glu608Asp)
c.1881A>T (p.Glu627Asp)
n.2075A>T
n.1982A>T
7g.81974510T>CCA456132711CACNA2D1c.2034A>G (p.Glu678=)
c.1765A>G
c.1878A>G (p.Glu626=)
c.1998A>G (p.Glu666=)
c.530A>G
c.1983A>G (p.Glu661=)
c.1977A>G (p.Glu659=)
c.1962A>G (p.Glu654=)
c.2055A>G (p.Glu685=)
c.1980A>G (p.Glu660=)
c.1938A>G (p.Glu646=)
c.465A>G (p.Glu155=)
c.2040A>G (p.Glu680=)
c.2019A>G (p.Glu673=)
c.1824A>G (p.Glu608=)
c.1881A>G (p.Glu627=)
n.2075A>G
n.1982A>G
 gnomAD v4
7g.81974510T>GCA367892758CACNA2D1c.2034A>C (p.Glu678Asp)
c.1765A>C
c.1878A>C (p.Glu626Asp)
c.1998A>C (p.Glu666Asp)
c.530A>C
c.1983A>C (p.Glu661Asp)
c.1977A>C (p.Glu659Asp)
c.1962A>C (p.Glu654Asp)
c.2055A>C (p.Glu685Asp)
c.1980A>C (p.Glu660Asp)
c.1938A>C (p.Glu646Asp)
c.465A>C (p.Glu155Asp)
c.2040A>C (p.Glu680Asp)
c.2019A>C (p.Glu673Asp)
c.1824A>C (p.Glu608Asp)
c.1881A>C (p.Glu627Asp)
n.2075A>C
n.1982A>C
7g.81974511T>ACA367892765CACNA2D1c.2033A>T (p.Glu678Val)
c.1764A>T
c.1877A>T (p.Glu626Val)
c.1997A>T (p.Glu666Val)
c.529A>T
c.1982A>T (p.Glu661Val)
c.1976A>T (p.Glu659Val)
c.1961A>T (p.Glu654Val)
c.2054A>T (p.Glu685Val)
c.1979A>T (p.Glu660Val)
c.1937A>T (p.Glu646Val)
c.464A>T (p.Glu155Val)
c.2039A>T (p.Glu680Val)
c.2018A>T (p.Glu673Val)
c.1823A>T (p.Glu608Val)
c.1880A>T (p.Glu627Val)
n.2074A>T
n.1981A>T
7g.81974511T>CCA367892761CACNA2D1c.2033A>G (p.Glu678Gly)
c.1764A>G
c.1877A>G (p.Glu626Gly)
c.1997A>G (p.Glu666Gly)
c.529A>G
c.1982A>G (p.Glu661Gly)
c.1976A>G (p.Glu659Gly)
c.1961A>G (p.Glu654Gly)
c.2054A>G (p.Glu685Gly)
c.1979A>G (p.Glu660Gly)
c.1937A>G (p.Glu646Gly)
c.464A>G (p.Glu155Gly)
c.2039A>G (p.Glu680Gly)
c.2018A>G (p.Glu673Gly)
c.1823A>G (p.Glu608Gly)
c.1880A>G (p.Glu627Gly)
n.2074A>G
n.1981A>G
 gnomAD v4
7g.81974511T>GCA367892763CACNA2D1c.2033A>C (p.Glu678Ala)
c.1764A>C
c.1877A>C (p.Glu626Ala)
c.1997A>C (p.Glu666Ala)
c.529A>C
c.1982A>C (p.Glu661Ala)
c.1976A>C (p.Glu659Ala)
c.1961A>C (p.Glu654Ala)
c.2054A>C (p.Glu685Ala)
c.1979A>C (p.Glu660Ala)
c.1937A>C (p.Glu646Ala)
c.464A>C (p.Glu155Ala)
c.2039A>C (p.Glu680Ala)
c.2018A>C (p.Glu673Ala)
c.1823A>C (p.Glu608Ala)
c.1880A>C (p.Glu627Ala)
n.2074A>C
n.1981A>C
7g.81974512C>ACA367892766CACNA2D1c.2032G>T (p.Glu678Ter)
c.1763G>T
c.1876G>T (p.Glu626Ter)
c.1996G>T (p.Glu666Ter)
c.528G>T
c.1981G>T (p.Glu661Ter)
c.1975G>T (p.Glu659Ter)
c.1960G>T (p.Glu654Ter)
c.2053G>T (p.Glu685Ter)
c.1978G>T (p.Glu660Ter)
c.1936G>T (p.Glu646Ter)
c.463G>T (p.Glu155Ter)
c.2038G>T (p.Glu680Ter)
c.2017G>T (p.Glu673Ter)
c.1822G>T (p.Glu608Ter)
c.1879G>T (p.Glu627Ter)
n.2073G>T
n.1980G>T
 dbSNP gnomAD v4 COSMIC COSMIC
7g.81974512C=CA1720999300CACNA2D1c.2032G= (p.Glu678=)
c.1763G=
c.1876G= (p.Glu626=)
c.1996G= (p.Glu666=)
c.528G=
c.1981G= (p.Glu661=)
c.1975G= (p.Glu659=)
c.1960G= (p.Glu654=)
c.2053G= (p.Glu685=)
c.1978G= (p.Glu660=)
c.1936G= (p.Glu646=)
c.463G= (p.Glu155=)
c.2038G= (p.Glu680=)
c.2017G= (p.Glu673=)
c.1822G= (p.Glu608=)
c.1879G= (p.Glu627=)
n.2073G=
n.1980G=
7g.81974512C>GCA367892768CACNA2D1c.2032G>C (p.Glu678Gln)
c.1763G>C
c.1876G>C (p.Glu626Gln)
c.1996G>C (p.Glu666Gln)
c.528G>C
c.1981G>C (p.Glu661Gln)
c.1975G>C (p.Glu659Gln)
c.1960G>C (p.Glu654Gln)
c.2053G>C (p.Glu685Gln)
c.1978G>C (p.Glu660Gln)
c.1936G>C (p.Glu646Gln)
c.463G>C (p.Glu155Gln)
c.2038G>C (p.Glu680Gln)
c.2017G>C (p.Glu673Gln)
c.1822G>C (p.Glu608Gln)
c.1879G>C (p.Glu627Gln)
n.2073G>C
n.1980G>C
7g.81974512C>TCA367892771CACNA2D1c.2032G>A (p.Glu678Lys)
c.1763G>A
c.1876G>A (p.Glu626Lys)
c.1996G>A (p.Glu666Lys)
c.528G>A
c.1981G>A (p.Glu661Lys)
c.1975G>A (p.Glu659Lys)
c.1960G>A (p.Glu654Lys)
c.2053G>A (p.Glu685Lys)
c.1978G>A (p.Glu660Lys)
c.1936G>A (p.Glu646Lys)
c.463G>A (p.Glu155Lys)
c.2038G>A (p.Glu680Lys)
c.2017G>A (p.Glu673Lys)
c.1822G>A (p.Glu608Lys)
c.1879G>A (p.Glu627Lys)
n.2073G>A
n.1980G>A
 gnomAD v4
7g.81974513A=CA1720999305CACNA2D1c.2031T= (p.Thr677=)
c.1762T=
c.1875T= (p.Thr625=)
c.1995T= (p.Thr665=)
c.527T=
c.1980T= (p.Thr660=)
c.1974T= (p.Thr658=)
c.1959T= (p.Thr653=)
c.2052T= (p.Thr684=)
c.1977T= (p.Thr659=)
c.1935T= (p.Thr645=)
c.462T= (p.Thr154=)
c.2037T= (p.Thr679=)
c.2016T= (p.Thr672=)
c.1821T= (p.Thr607=)
c.1878T= (p.Thr626=)
n.2072T=
n.1979T=
7g.81974513A>CCA456132716CACNA2D1c.2031T>G (p.Thr677=)
c.1762T>G
c.1875T>G (p.Thr625=)
c.1995T>G (p.Thr665=)
c.527T>G
c.1980T>G (p.Thr660=)
c.1974T>G (p.Thr658=)
c.1959T>G (p.Thr653=)
c.2052T>G (p.Thr684=)
c.1977T>G (p.Thr659=)
c.1935T>G (p.Thr645=)
c.462T>G (p.Thr154=)
c.2037T>G (p.Thr679=)
c.2016T>G (p.Thr672=)
c.1821T>G (p.Thr607=)
c.1878T>G (p.Thr626=)
n.2072T>G
n.1979T>G
 ClinVar dbSNP
7g.81974513A>GCA456132714CACNA2D1c.2031T>C (p.Thr677=)
c.1762T>C
c.1875T>C (p.Thr625=)
c.1995T>C (p.Thr665=)
c.527T>C
c.1980T>C (p.Thr660=)
c.1974T>C (p.Thr658=)
c.1959T>C (p.Thr653=)
c.2052T>C (p.Thr684=)
c.1977T>C (p.Thr659=)
c.1935T>C (p.Thr645=)
c.462T>C (p.Thr154=)
c.2037T>C (p.Thr679=)
c.2016T>C (p.Thr672=)
c.1821T>C (p.Thr607=)
c.1878T>C (p.Thr626=)
n.2072T>C
n.1979T>C
 gnomAD v4
7g.81974513A>TCA456132715CACNA2D1c.2031T>A (p.Thr677=)
c.1762T>A
c.1875T>A (p.Thr625=)
c.1995T>A (p.Thr665=)
c.527T>A
c.1980T>A (p.Thr660=)
c.1974T>A (p.Thr658=)
c.1959T>A (p.Thr653=)
c.2052T>A (p.Thr684=)
c.1977T>A (p.Thr659=)
c.1935T>A (p.Thr645=)
c.462T>A (p.Thr154=)
c.2037T>A (p.Thr679=)
c.2016T>A (p.Thr672=)
c.1821T>A (p.Thr607=)
c.1878T>A (p.Thr626=)
n.2072T>A
n.1979T>A
7g.81974514G>ACA367892774CACNA2D1c.2030C>T (p.Thr677Ile)
c.1761C>T
c.1874C>T (p.Thr625Ile)
c.1994C>T (p.Thr665Ile)
c.526C>T
c.1979C>T (p.Thr660Ile)
c.1973C>T (p.Thr658Ile)
c.1958C>T (p.Thr653Ile)
c.2051C>T (p.Thr684Ile)
c.1976C>T (p.Thr659Ile)
c.1934C>T (p.Thr645Ile)
c.461C>T (p.Thr154Ile)
c.2036C>T (p.Thr679Ile)
c.2015C>T (p.Thr672Ile)
c.1820C>T (p.Thr607Ile)
c.1877C>T (p.Thr626Ile)
n.2071C>T
n.1978C>T
7g.81974514G>CCA367892777CACNA2D1c.2030C>G (p.Thr677Ser)
c.1761C>G
c.1874C>G (p.Thr625Ser)
c.1994C>G (p.Thr665Ser)
c.526C>G
c.1979C>G (p.Thr660Ser)
c.1973C>G (p.Thr658Ser)
c.1958C>G (p.Thr653Ser)
c.2051C>G (p.Thr684Ser)
c.1976C>G (p.Thr659Ser)
c.1934C>G (p.Thr645Ser)
c.461C>G (p.Thr154Ser)
c.2036C>G (p.Thr679Ser)
c.2015C>G (p.Thr672Ser)
c.1820C>G (p.Thr607Ser)
c.1877C>G (p.Thr626Ser)
n.2071C>G
n.1978C>G
7g.81974514G>TCA367892780CACNA2D1c.2030C>A (p.Thr677Asn)
c.1761C>A
c.1874C>A (p.Thr625Asn)
c.1994C>A (p.Thr665Asn)
c.526C>A
c.1979C>A (p.Thr660Asn)
c.1973C>A (p.Thr658Asn)
c.1958C>A (p.Thr653Asn)
c.2051C>A (p.Thr684Asn)
c.1976C>A (p.Thr659Asn)
c.1934C>A (p.Thr645Asn)
c.461C>A (p.Thr154Asn)
c.2036C>A (p.Thr679Asn)
c.2015C>A (p.Thr672Asn)
c.1820C>A (p.Thr607Asn)
c.1877C>A (p.Thr626Asn)
n.2071C>A
n.1978C>A
 gnomAD v4
7g.81974515T>ACA367892783CACNA2D1c.2029A>T (p.Thr677Ser)
c.1760A>T
c.1873A>T (p.Thr625Ser)
c.1993A>T (p.Thr665Ser)
c.525A>T
c.1978A>T (p.Thr660Ser)
c.1972A>T (p.Thr658Ser)
c.1957A>T (p.Thr653Ser)
c.2050A>T (p.Thr684Ser)
c.1975A>T (p.Thr659Ser)
c.1933A>T (p.Thr645Ser)
c.460A>T (p.Thr154Ser)
c.2035A>T (p.Thr679Ser)
c.2014A>T (p.Thr672Ser)
c.1819A>T (p.Thr607Ser)
c.1876A>T (p.Thr626Ser)
n.2070A>T
n.1977A>T
7g.81974515T>CCA4317780CACNA2D1c.2029A>G (p.Thr677Ala)
c.1760A>G
c.1873A>G (p.Thr625Ala)
c.1993A>G (p.Thr665Ala)
c.525A>G
c.1978A>G (p.Thr660Ala)
c.1972A>G (p.Thr658Ala)
c.1957A>G (p.Thr653Ala)
c.2050A>G (p.Thr684Ala)
c.1975A>G (p.Thr659Ala)
c.1933A>G (p.Thr645Ala)
c.460A>G (p.Thr154Ala)
c.2035A>G (p.Thr679Ala)
c.2014A>G (p.Thr672Ala)
c.1819A>G (p.Thr607Ala)
c.1876A>G (p.Thr626Ala)
n.2070A>G
n.1977A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.81974515T>GCA4317779CACNA2D1c.2029A>C (p.Thr677Pro)
c.1760A>C
c.1873A>C (p.Thr625Pro)
c.1993A>C (p.Thr665Pro)
c.525A>C
c.1978A>C (p.Thr660Pro)
c.1972A>C (p.Thr658Pro)
c.1957A>C (p.Thr653Pro)
c.2050A>C (p.Thr684Pro)
c.1975A>C (p.Thr659Pro)
c.1933A>C (p.Thr645Pro)
c.460A>C (p.Thr154Pro)
c.2035A>C (p.Thr679Pro)
c.2014A>C (p.Thr672Pro)
c.1819A>C (p.Thr607Pro)
c.1876A>C (p.Thr626Pro)
n.2070A>C
n.1977A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.81974515T=CA1720999311CACNA2D1c.2029A= (p.Thr677=)
c.1760A=
c.1873A= (p.Thr625=)
c.1993A= (p.Thr665=)
c.525A=
c.1978A= (p.Thr660=)
c.1972A= (p.Thr658=)
c.1957A= (p.Thr653=)
c.2050A= (p.Thr684=)
c.1975A= (p.Thr659=)
c.1933A= (p.Thr645=)
c.460A= (p.Thr154=)
c.2035A= (p.Thr679=)
c.2014A= (p.Thr672=)
c.1819A= (p.Thr607=)
c.1876A= (p.Thr626=)
n.2070A=
n.1977A=
7g.81974516G>ACA456132719CACNA2D1c.2028C>T (p.Asn676=)
c.1759C>T
c.1872C>T (p.Asn624=)
c.1992C>T (p.Asn664=)
c.524C>T
c.1977C>T (p.Asn659=)
c.1971C>T (p.Asn657=)
c.1956C>T (p.Asn652=)
c.2049C>T (p.Asn683=)
c.1974C>T (p.Asn658=)
c.1932C>T (p.Asn644=)
c.459C>T (p.Asn153=)
c.2034C>T (p.Asn678=)
c.2013C>T (p.Asn671=)
c.1818C>T (p.Asn606=)
c.1875C>T (p.Asn625=)
n.2069C>T
n.1976C>T
7g.81974516G>CCA367892790CACNA2D1c.2028C>G (p.Asn676Lys)
c.1759C>G
c.1872C>G (p.Asn624Lys)
c.1992C>G (p.Asn664Lys)
c.524C>G
c.1977C>G (p.Asn659Lys)
c.1971C>G (p.Asn657Lys)
c.1956C>G (p.Asn652Lys)
c.2049C>G (p.Asn683Lys)
c.1974C>G (p.Asn658Lys)
c.1932C>G (p.Asn644Lys)
c.459C>G (p.Asn153Lys)
c.2034C>G (p.Asn678Lys)
c.2013C>G (p.Asn671Lys)
c.1818C>G (p.Asn606Lys)
c.1875C>G (p.Asn625Lys)
n.2069C>G
n.1976C>G
7g.81974516G>TCA367892792CACNA2D1c.2028C>A (p.Asn676Lys)
c.1759C>A
c.1872C>A (p.Asn624Lys)
c.1992C>A (p.Asn664Lys)
c.524C>A
c.1977C>A (p.Asn659Lys)
c.1971C>A (p.Asn657Lys)
c.1956C>A (p.Asn652Lys)
c.2049C>A (p.Asn683Lys)
c.1974C>A (p.Asn658Lys)
c.1932C>A (p.Asn644Lys)
c.459C>A (p.Asn153Lys)
c.2034C>A (p.Asn678Lys)
c.2013C>A (p.Asn671Lys)
c.1818C>A (p.Asn606Lys)
c.1875C>A (p.Asn625Lys)
n.2069C>A
n.1976C>A
 gnomAD v4
7g.81974517T>ACA367892797CACNA2D1c.2027A>T (p.Asn676Ile)
c.1758A>T
c.1871A>T (p.Asn624Ile)
c.1991A>T (p.Asn664Ile)
c.523A>T
c.1976A>T (p.Asn659Ile)
c.1970A>T (p.Asn657Ile)
c.1955A>T (p.Asn652Ile)
c.2048A>T (p.Asn683Ile)
c.1973A>T (p.Asn658Ile)
c.1931A>T (p.Asn644Ile)
c.458A>T (p.Asn153Ile)
c.2033A>T (p.Asn678Ile)
c.2012A>T (p.Asn671Ile)
c.1817A>T (p.Asn606Ile)
c.1874A>T (p.Asn625Ile)
n.2068A>T
n.1975A>T
 dbSNP
7g.81974517T>CCA4317781CACNA2D1c.2027A>G (p.Asn676Ser)
c.1758A>G
c.1871A>G (p.Asn624Ser)
c.1991A>G (p.Asn664Ser)
c.523A>G
c.1976A>G (p.Asn659Ser)
c.1970A>G (p.Asn657Ser)
c.1955A>G (p.Asn652Ser)
c.2048A>G (p.Asn683Ser)
c.1973A>G (p.Asn658Ser)
c.1931A>G (p.Asn644Ser)
c.458A>G (p.Asn153Ser)
c.2033A>G (p.Asn678Ser)
c.2012A>G (p.Asn671Ser)
c.1817A>G (p.Asn606Ser)
c.1874A>G (p.Asn625Ser)
n.2068A>G
n.1975A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.81974517T>GCA367892794CACNA2D1c.2027A>C (p.Asn676Thr)
c.1758A>C
c.1871A>C (p.Asn624Thr)
c.1991A>C (p.Asn664Thr)
c.523A>C
c.1976A>C (p.Asn659Thr)
c.1970A>C (p.Asn657Thr)
c.1955A>C (p.Asn652Thr)
c.2048A>C (p.Asn683Thr)
c.1973A>C (p.Asn658Thr)
c.1931A>C (p.Asn644Thr)
c.458A>C (p.Asn153Thr)
c.2033A>C (p.Asn678Thr)
c.2012A>C (p.Asn671Thr)
c.1817A>C (p.Asn606Thr)
c.1874A>C (p.Asn625Thr)
n.2068A>C
n.1975A>C
7g.81974517T=CA1720999321CACNA2D1c.2027A= (p.Asn676=)
c.1758A=
c.1871A= (p.Asn624=)
c.1991A= (p.Asn664=)
c.523A=
c.1976A= (p.Asn659=)
c.1970A= (p.Asn657=)
c.1955A= (p.Asn652=)
c.2048A= (p.Asn683=)
c.1973A= (p.Asn658=)
c.1931A= (p.Asn644=)
c.458A= (p.Asn153=)
c.2033A= (p.Asn678=)
c.2012A= (p.Asn671=)
c.1817A= (p.Asn606=)
c.1874A= (p.Asn625=)
n.2068A=
n.1975A=
7g.81974521_81974523delCA2683539848CACNA2D1c.2025_2027del (p.Asn676del)
c.1756_1758del
c.1869_1871del (p.Asn624del)
c.1989_1991del (p.Asn664del)
c.521_523del
c.1974_1976del (p.Asn659del)
c.1968_1970del (p.Asn657del)
c.1953_1955del (p.Asn652del)
c.2046_2048del (p.Asn683del)
c.1971_1973del (p.Asn658del)
c.1929_1931del (p.Asn644del)
c.456_458del (p.Asn153del)
c.2031_2033del (p.Asn678del)
c.2010_2012del (p.Asn671del)
c.1815_1817del (p.Asn606del)
c.1872_1874del (p.Asn625del)
n.2066_2068del
n.1973_1975del
 gnomAD v4
7g.81974518T>ACA367892800CACNA2D1c.2026A>T (p.Asn676Tyr)
c.1757A>T
c.1870A>T (p.Asn624Tyr)
c.1990A>T (p.Asn664Tyr)
c.522A>T
c.1975A>T (p.Asn659Tyr)
c.1969A>T (p.Asn657Tyr)
c.1954A>T (p.Asn652Tyr)
c.2047A>T (p.Asn683Tyr)
c.1972A>T (p.Asn658Tyr)
c.1930A>T (p.Asn644Tyr)
c.457A>T (p.Asn153Tyr)
c.2032A>T (p.Asn678Tyr)
c.2011A>T (p.Asn671Tyr)
c.1816A>T (p.Asn606Tyr)
c.1873A>T (p.Asn625Tyr)
n.2067A>T
n.1974A>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.81974518T>CCA4317782CACNA2D1c.2026A>G (p.Asn676Asp)
c.1757A>G
c.1870A>G (p.Asn624Asp)
c.1990A>G (p.Asn664Asp)
c.522A>G
c.1975A>G (p.Asn659Asp)
c.1969A>G (p.Asn657Asp)
c.1954A>G (p.Asn652Asp)
c.2047A>G (p.Asn683Asp)
c.1972A>G (p.Asn658Asp)
c.1930A>G (p.Asn644Asp)
c.457A>G (p.Asn153Asp)
c.2032A>G (p.Asn678Asp)
c.2011A>G (p.Asn671Asp)
c.1816A>G (p.Asn606Asp)
c.1873A>G (p.Asn625Asp)
n.2067A>G
n.1974A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.81974518T>GCA367892804CACNA2D1c.2026A>C (p.Asn676His)
c.1757A>C
c.1870A>C (p.Asn624His)
c.1990A>C (p.Asn664His)
c.522A>C
c.1975A>C (p.Asn659His)
c.1969A>C (p.Asn657His)
c.1954A>C (p.Asn652His)
c.2047A>C (p.Asn683His)
c.1972A>C (p.Asn658His)
c.1930A>C (p.Asn644His)
c.457A>C (p.Asn153His)
c.2032A>C (p.Asn678His)
c.2011A>C (p.Asn671His)
c.1816A>C (p.Asn606His)
c.1873A>C (p.Asn625His)
n.2067A>C
n.1974A>C
7g.81974518T=CA1720999324CACNA2D1c.2026A= (p.Asn676=)
c.1757A=
c.1870A= (p.Asn624=)
c.1990A= (p.Asn664=)
c.522A=
c.1975A= (p.Asn659=)
c.1969A= (p.Asn657=)
c.1954A= (p.Asn652=)
c.2047A= (p.Asn683=)
c.1972A= (p.Asn658=)
c.1930A= (p.Asn644=)
c.457A= (p.Asn153=)
c.2032A= (p.Asn678=)
c.2011A= (p.Asn671=)
c.1816A= (p.Asn606=)
c.1873A= (p.Asn625=)
n.2067A=
n.1974A=
7g.81974519A>CCA367892808CACNA2D1c.2025T>G (p.Asn675Lys)
c.1756T>G
c.1869T>G (p.Asn623Lys)
c.1989T>G (p.Asn663Lys)
c.521T>G
c.1974T>G (p.Asn658Lys)
c.1968T>G (p.Asn656Lys)
c.1953T>G (p.Asn651Lys)
c.2046T>G (p.Asn682Lys)
c.1971T>G (p.Asn657Lys)
c.1929T>G (p.Asn643Lys)
c.456T>G (p.Asn152Lys)
c.2031T>G (p.Asn677Lys)
c.2010T>G (p.Asn670Lys)
c.1815T>G (p.Asn605Lys)
c.1872T>G (p.Asn624Lys)
n.2066T>G
n.1973T>G
7g.81974519A>GCA456132724CACNA2D1c.2025T>C (p.Asn675=)
c.1756T>C
c.1869T>C (p.Asn623=)
c.1989T>C (p.Asn663=)
c.521T>C
c.1974T>C (p.Asn658=)
c.1968T>C (p.Asn656=)
c.1953T>C (p.Asn651=)
c.2046T>C (p.Asn682=)
c.1971T>C (p.Asn657=)
c.1929T>C (p.Asn643=)
c.456T>C (p.Asn152=)
c.2031T>C (p.Asn677=)
c.2010T>C (p.Asn670=)
c.1815T>C (p.Asn605=)
c.1872T>C (p.Asn624=)
n.2066T>C
n.1973T>C
7g.81974519A>TCA367892810CACNA2D1c.2025T>A (p.Asn675Lys)
c.1756T>A
c.1869T>A (p.Asn623Lys)
c.1989T>A (p.Asn663Lys)
c.521T>A
c.1974T>A (p.Asn658Lys)
c.1968T>A (p.Asn656Lys)
c.1953T>A (p.Asn651Lys)
c.2046T>A (p.Asn682Lys)
c.1971T>A (p.Asn657Lys)
c.1929T>A (p.Asn643Lys)
c.456T>A (p.Asn152Lys)
c.2031T>A (p.Asn677Lys)
c.2010T>A (p.Asn670Lys)
c.1815T>A (p.Asn605Lys)
c.1872T>A (p.Asn624Lys)
n.2066T>A
n.1973T>A
7g.81974520T>ACA367892813CACNA2D1c.2024A>T (p.Asn675Ile)
c.1755A>T
c.1868A>T (p.Asn623Ile)
c.1988A>T (p.Asn663Ile)
c.520A>T
c.1973A>T (p.Asn658Ile)
c.1967A>T (p.Asn656Ile)
c.1952A>T (p.Asn651Ile)
c.2045A>T (p.Asn682Ile)
c.1970A>T (p.Asn657Ile)
c.1928A>T (p.Asn643Ile)
c.455A>T (p.Asn152Ile)
c.2030A>T (p.Asn677Ile)
c.2009A>T (p.Asn670Ile)
c.1814A>T (p.Asn605Ile)
c.1871A>T (p.Asn624Ile)
n.2065A>T
n.1972A>T
7g.81974520T>CCA367892815CACNA2D1c.2024A>G (p.Asn675Ser)
c.1755A>G
c.1868A>G (p.Asn623Ser)
c.1988A>G (p.Asn663Ser)
c.520A>G
c.1973A>G (p.Asn658Ser)
c.1967A>G (p.Asn656Ser)
c.1952A>G (p.Asn651Ser)
c.2045A>G (p.Asn682Ser)
c.1970A>G (p.Asn657Ser)
c.1928A>G (p.Asn643Ser)
c.455A>G (p.Asn152Ser)
c.2030A>G (p.Asn677Ser)
c.2009A>G (p.Asn670Ser)
c.1814A>G (p.Asn605Ser)
c.1871A>G (p.Asn624Ser)
n.2065A>G
n.1972A>G
 ClinVar gnomAD v4
7g.81974520T>GCA367892818CACNA2D1c.2024A>C (p.Asn675Thr)
c.1755A>C
c.1868A>C (p.Asn623Thr)
c.1988A>C (p.Asn663Thr)
c.520A>C
c.1973A>C (p.Asn658Thr)
c.1967A>C (p.Asn656Thr)
c.1952A>C (p.Asn651Thr)
c.2045A>C (p.Asn682Thr)
c.1970A>C (p.Asn657Thr)
c.1928A>C (p.Asn643Thr)
c.455A>C (p.Asn152Thr)
c.2030A>C (p.Asn677Thr)
c.2009A>C (p.Asn670Thr)
c.1814A>C (p.Asn605Thr)
c.1871A>C (p.Asn624Thr)
n.2065A>C
n.1972A>C
7g.81974521delCA2683539853CACNA2D1c.2024del (p.Asn675IlefsTer7)
c.1755del
c.1868del (p.Asn623IlefsTer7)
c.1988del (p.Asn663IlefsTer7)
c.520del
c.1973del (p.Asn658IlefsTer7)
c.1967del (p.Asn656IlefsTer7)
c.1952del (p.Asn651IlefsTer7)
c.2045del (p.Asn682IlefsTer7)
c.1970del (p.Asn657IlefsTer7)
c.1928del (p.Asn643IlefsTer7)
c.455del (p.Asn152IlefsTer7)
c.2030del (p.Asn677IlefsTer7)
c.2009del (p.Asn670IlefsTer7)
c.1814del (p.Asn605IlefsTer7)
c.1871del (p.Asn624IlefsTer7)
n.2065del
n.1972del
 gnomAD v4
7g.81974521T>ACA367892821CACNA2D1c.2023A>T (p.Asn675Tyr)
c.1754A>T
c.1867A>T (p.Asn623Tyr)
c.1987A>T (p.Asn663Tyr)
c.519A>T
c.1972A>T (p.Asn658Tyr)
c.1966A>T (p.Asn656Tyr)
c.1951A>T (p.Asn651Tyr)
c.2044A>T (p.Asn682Tyr)
c.1969A>T (p.Asn657Tyr)
c.1927A>T (p.Asn643Tyr)
c.454A>T (p.Asn152Tyr)
c.2029A>T (p.Asn677Tyr)
c.2008A>T (p.Asn670Tyr)
c.1813A>T (p.Asn605Tyr)
c.1870A>T (p.Asn624Tyr)
n.2064A>T
n.1971A>T
7g.81974521T>CCA367892823CACNA2D1c.2023A>G (p.Asn675Asp)
c.1754A>G
c.1867A>G (p.Asn623Asp)
c.1987A>G (p.Asn663Asp)
c.519A>G
c.1972A>G (p.Asn658Asp)
c.1966A>G (p.Asn656Asp)
c.1951A>G (p.Asn651Asp)
c.2044A>G (p.Asn682Asp)
c.1969A>G (p.Asn657Asp)
c.1927A>G (p.Asn643Asp)
c.454A>G (p.Asn152Asp)
c.2029A>G (p.Asn677Asp)
c.2008A>G (p.Asn670Asp)
c.1813A>G (p.Asn605Asp)
c.1870A>G (p.Asn624Asp)
n.2064A>G
n.1971A>G
 gnomAD v4
7g.81974521T>GCA367892825CACNA2D1c.2023A>C (p.Asn675His)
c.1754A>C
c.1867A>C (p.Asn623His)
c.1987A>C (p.Asn663His)
c.519A>C
c.1972A>C (p.Asn658His)
c.1966A>C (p.Asn656His)
c.1951A>C (p.Asn651His)
c.2044A>C (p.Asn682His)
c.1969A>C (p.Asn657His)
c.1927A>C (p.Asn643His)
c.454A>C (p.Asn152His)
c.2029A>C (p.Asn677His)
c.2008A>C (p.Asn670His)
c.1813A>C (p.Asn605His)
c.1870A>C (p.Asn624His)
n.2064A>C
n.1971A>C
7g.81974522A=CA1720999331CACNA2D1c.2022T= (p.Asp674=)
c.1753T=
c.1866T= (p.Asp622=)
c.1986T= (p.Asp662=)
c.518T=
c.1971T= (p.Asp657=)
c.1965T= (p.Asp655=)
c.1950T= (p.Asp650=)
c.2043T= (p.Asp681=)
c.1968T= (p.Asp656=)
c.1926T= (p.Asp642=)
c.453T= (p.Asp151=)
c.2028T= (p.Asp676=)
c.2007T= (p.Asp669=)
c.1812T= (p.Asp604=)
c.1869T= (p.Asp623=)
n.2063T=
n.1970T=
7g.81974522A>CCA4317783CACNA2D1c.2022T>G (p.Asp674Glu)
c.1753T>G
c.1866T>G (p.Asp622Glu)
c.1986T>G (p.Asp662Glu)
c.518T>G
c.1971T>G (p.Asp657Glu)
c.1965T>G (p.Asp655Glu)
c.1950T>G (p.Asp650Glu)
c.2043T>G (p.Asp681Glu)
c.1968T>G (p.Asp656Glu)
c.1926T>G (p.Asp642Glu)
c.453T>G (p.Asp151Glu)
c.2028T>G (p.Asp676Glu)
c.2007T>G (p.Asp669Glu)
c.1812T>G (p.Asp604Glu)
c.1869T>G (p.Asp623Glu)
n.2063T>G
n.1970T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.81974522A>GCA456132727CACNA2D1c.2022T>C (p.Asp674=)
c.1753T>C
c.1866T>C (p.Asp622=)
c.1986T>C (p.Asp662=)
c.518T>C
c.1971T>C (p.Asp657=)
c.1965T>C (p.Asp655=)
c.1950T>C (p.Asp650=)
c.2043T>C (p.Asp681=)
c.1968T>C (p.Asp656=)
c.1926T>C (p.Asp642=)
c.453T>C (p.Asp151=)
c.2028T>C (p.Asp676=)
c.2007T>C (p.Asp669=)
c.1812T>C (p.Asp604=)
c.1869T>C (p.Asp623=)
n.2063T>C
n.1970T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.81974522A>TCA367892829CACNA2D1c.2022T>A (p.Asp674Glu)
c.1753T>A
c.1866T>A (p.Asp622Glu)
c.1986T>A (p.Asp662Glu)
c.518T>A
c.1971T>A (p.Asp657Glu)
c.1965T>A (p.Asp655Glu)
c.1950T>A (p.Asp650Glu)
c.2043T>A (p.Asp681Glu)
c.1968T>A (p.Asp656Glu)
c.1926T>A (p.Asp642Glu)
c.453T>A (p.Asp151Glu)
c.2028T>A (p.Asp676Glu)
c.2007T>A (p.Asp669Glu)
c.1812T>A (p.Asp604Glu)
c.1869T>A (p.Asp623Glu)
n.2063T>A
n.1970T>A
7g.81974523T>ACA367892838CACNA2D1c.2021A>T (p.Asp674Val)
c.1752A>T
c.1865A>T (p.Asp622Val)
c.1985A>T (p.Asp662Val)
c.517A>T
c.1970A>T (p.Asp657Val)
c.1964A>T (p.Asp655Val)
c.1949A>T (p.Asp650Val)
c.2042A>T (p.Asp681Val)
c.1967A>T (p.Asp656Val)
c.1925A>T (p.Asp642Val)
c.452A>T (p.Asp151Val)
c.2027A>T (p.Asp676Val)
c.2006A>T (p.Asp669Val)
c.1811A>T (p.Asp604Val)
c.1868A>T (p.Asp623Val)
n.2062A>T
n.1969A>T
7g.81974523T>CCA367892835CACNA2D1c.2021A>G (p.Asp674Gly)
c.1752A>G
c.1865A>G (p.Asp622Gly)
c.1985A>G (p.Asp662Gly)
c.517A>G
c.1970A>G (p.Asp657Gly)
c.1964A>G (p.Asp655Gly)
c.1949A>G (p.Asp650Gly)
c.2042A>G (p.Asp681Gly)
c.1967A>G (p.Asp656Gly)
c.1925A>G (p.Asp642Gly)
c.452A>G (p.Asp151Gly)
c.2027A>G (p.Asp676Gly)
c.2006A>G (p.Asp669Gly)
c.1811A>G (p.Asp604Gly)
c.1868A>G (p.Asp623Gly)
n.2062A>G
n.1969A>G
 gnomAD v4
7g.81974523T>GCA367892832CACNA2D1c.2021A>C (p.Asp674Ala)
c.1752A>C
c.1865A>C (p.Asp622Ala)
c.1985A>C (p.Asp662Ala)
c.517A>C
c.1970A>C (p.Asp657Ala)
c.1964A>C (p.Asp655Ala)
c.1949A>C (p.Asp650Ala)
c.2042A>C (p.Asp681Ala)
c.1967A>C (p.Asp656Ala)
c.1925A>C (p.Asp642Ala)
c.452A>C (p.Asp151Ala)
c.2027A>C (p.Asp676Ala)
c.2006A>C (p.Asp669Ala)
c.1811A>C (p.Asp604Ala)
c.1868A>C (p.Asp623Ala)
n.2062A>C
n.1969A>C
7g.81974524C>ACA367892840CACNA2D1c.2020G>T (p.Asp674Tyr)
c.1751G>T
c.1864G>T (p.Asp622Tyr)
c.1984G>T (p.Asp662Tyr)
c.516G>T
c.1969G>T (p.Asp657Tyr)
c.1963G>T (p.Asp655Tyr)
c.1948G>T (p.Asp650Tyr)
c.2041G>T (p.Asp681Tyr)
c.1966G>T (p.Asp656Tyr)
c.1924G>T (p.Asp642Tyr)
c.451G>T (p.Asp151Tyr)
c.2026G>T (p.Asp676Tyr)
c.2005G>T (p.Asp669Tyr)
c.1810G>T (p.Asp604Tyr)
c.1867G>T (p.Asp623Tyr)
n.2061G>T
n.1968G>T
 gnomAD v4
7g.81974524C>GCA367892841CACNA2D1c.2020G>C (p.Asp674His)
c.1751G>C
c.1864G>C (p.Asp622His)
c.1984G>C (p.Asp662His)
c.516G>C
c.1969G>C (p.Asp657His)
c.1963G>C (p.Asp655His)
c.1948G>C (p.Asp650His)
c.2041G>C (p.Asp681His)
c.1966G>C (p.Asp656His)
c.1924G>C (p.Asp642His)
c.451G>C (p.Asp151His)
c.2026G>C (p.Asp676His)
c.2005G>C (p.Asp669His)
c.1810G>C (p.Asp604His)
c.1867G>C (p.Asp623His)
n.2061G>C
n.1968G>C
7g.81974524C>TCA367892844CACNA2D1c.2020G>A (p.Asp674Asn)
c.1751G>A
c.1864G>A (p.Asp622Asn)
c.1984G>A (p.Asp662Asn)
c.516G>A
c.1969G>A (p.Asp657Asn)
c.1963G>A (p.Asp655Asn)
c.1948G>A (p.Asp650Asn)
c.2041G>A (p.Asp681Asn)
c.1966G>A (p.Asp656Asn)
c.1924G>A (p.Asp642Asn)
c.451G>A (p.Asp151Asn)
c.2026G>A (p.Asp676Asn)
c.2005G>A (p.Asp669Asn)
c.1810G>A (p.Asp604Asn)
c.1867G>A (p.Asp623Asn)
n.2061G>A
n.1968G>A
 gnomAD v4
7g.81974525C>ACA456132735CACNA2D1c.2019G>T (p.Ser673=)
c.1750G>T
c.1863G>T (p.Ser621=)
c.1983G>T (p.Ser661=)
c.515G>T
c.1968G>T (p.Ser656=)
c.1962G>T (p.Ser654=)
c.1947G>T (p.Ser649=)
c.2040G>T (p.Ser680=)
c.1965G>T (p.Ser655=)
c.1923G>T (p.Ser641=)
c.450G>T (p.Ser150=)
c.2025G>T (p.Ser675=)
c.2004G>T (p.Ser668=)
c.1809G>T (p.Ser603=)
c.1866G>T (p.Ser622=)
n.2060G>T
n.1967G>T
 gnomAD v4
7g.81974525C=CA1720999335CACNA2D1c.2019G= (p.Ser673=)
c.1750G=
c.1863G= (p.Ser621=)
c.1983G= (p.Ser661=)
c.515G=
c.1968G= (p.Ser656=)
c.1962G= (p.Ser654=)
c.1947G= (p.Ser649=)
c.2040G= (p.Ser680=)
c.1965G= (p.Ser655=)
c.1923G= (p.Ser641=)
c.450G= (p.Ser150=)
c.2025G= (p.Ser675=)
c.2004G= (p.Ser668=)
c.1809G= (p.Ser603=)
c.1866G= (p.Ser622=)
n.2060G=
n.1967G=
7g.81974525C>GCA456132737CACNA2D1c.2019G>C (p.Ser673=)
c.1750G>C
c.1863G>C (p.Ser621=)
c.1983G>C (p.Ser661=)
c.515G>C
c.1968G>C (p.Ser656=)
c.1962G>C (p.Ser654=)
c.1947G>C (p.Ser649=)
c.2040G>C (p.Ser680=)
c.1965G>C (p.Ser655=)
c.1923G>C (p.Ser641=)
c.450G>C (p.Ser150=)
c.2025G>C (p.Ser675=)
c.2004G>C (p.Ser668=)
c.1809G>C (p.Ser603=)
c.1866G>C (p.Ser622=)
n.2060G>C
n.1967G>C
7g.81974525C>TCA4317784CACNA2D1c.2019G>A (p.Ser673=)
c.1750G>A
c.1863G>A (p.Ser621=)
c.1983G>A (p.Ser661=)
c.515G>A
c.1968G>A (p.Ser656=)
c.1962G>A (p.Ser654=)
c.1947G>A (p.Ser649=)
c.2040G>A (p.Ser680=)
c.1965G>A (p.Ser655=)
c.1923G>A (p.Ser641=)
c.450G>A (p.Ser150=)
c.2025G>A (p.Ser675=)
c.2004G>A (p.Ser668=)
c.1809G>A (p.Ser603=)
c.1866G>A (p.Ser622=)
n.2060G>A
n.1967G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.81974526G>ACA4317785CACNA2D1c.2018C>T (p.Ser673Leu)
c.1749C>T
c.1862C>T (p.Ser621Leu)
c.1982C>T (p.Ser661Leu)
c.514C>T
c.1967C>T (p.Ser656Leu)
c.1961C>T (p.Ser654Leu)
c.1946C>T (p.Ser649Leu)
c.2039C>T (p.Ser680Leu)
c.1964C>T (p.Ser655Leu)
c.1922C>T (p.Ser641Leu)
c.449C>T (p.Ser150Leu)
c.2024C>T (p.Ser675Leu)
c.2003C>T (p.Ser668Leu)
c.1808C>T (p.Ser603Leu)
c.1865C>T (p.Ser622Leu)
n.2059C>T
n.1966C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
7g.81974526G>CCA367892851CACNA2D1c.2018C>G (p.Ser673Trp)
c.1749C>G
c.1862C>G (p.Ser621Trp)
c.1982C>G (p.Ser661Trp)
c.514C>G
c.1967C>G (p.Ser656Trp)
c.1961C>G (p.Ser654Trp)
c.1946C>G (p.Ser649Trp)
c.2039C>G (p.Ser680Trp)
c.1964C>G (p.Ser655Trp)
c.1922C>G (p.Ser641Trp)
c.449C>G (p.Ser150Trp)
c.2024C>G (p.Ser675Trp)
c.2003C>G (p.Ser668Trp)
c.1808C>G (p.Ser603Trp)
c.1865C>G (p.Ser622Trp)
n.2059C>G
n.1966C>G
7g.81974526G=CA1720999340CACNA2D1c.2018C= (p.Ser673=)
c.1749C=
c.1862C= (p.Ser621=)
c.1982C= (p.Ser661=)
c.514C=
c.1967C= (p.Ser656=)
c.1961C= (p.Ser654=)
c.1946C= (p.Ser649=)
c.2039C= (p.Ser680=)
c.1964C= (p.Ser655=)
c.1922C= (p.Ser641=)
c.449C= (p.Ser150=)
c.2024C= (p.Ser675=)
c.2003C= (p.Ser668=)
c.1808C= (p.Ser603=)
c.1865C= (p.Ser622=)
n.2059C=
n.1966C=
7g.81974526G>TCA4317786CACNA2D1c.2018C>A (p.Ser673Ter)
c.1749C>A
c.1862C>A (p.Ser621Ter)
c.1982C>A (p.Ser661Ter)
c.514C>A
c.1967C>A (p.Ser656Ter)
c.1961C>A (p.Ser654Ter)
c.1946C>A (p.Ser649Ter)
c.2039C>A (p.Ser680Ter)
c.1964C>A (p.Ser655Ter)
c.1922C>A (p.Ser641Ter)
c.449C>A (p.Ser150Ter)
c.2024C>A (p.Ser675Ter)
c.2003C>A (p.Ser668Ter)
c.1808C>A (p.Ser603Ter)
c.1865C>A (p.Ser622Ter)
n.2059C>A
n.1966C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.81974527A>CCA367892853CACNA2D1c.2017T>G (p.Ser673Ala)
c.1748T>G
c.1861T>G (p.Ser621Ala)
c.1981T>G (p.Ser661Ala)
c.513T>G
c.1966T>G (p.Ser656Ala)
c.1960T>G (p.Ser654Ala)
c.1945T>G (p.Ser649Ala)
c.2038T>G (p.Ser680Ala)
c.1963T>G (p.Ser655Ala)
c.1921T>G (p.Ser641Ala)
c.448T>G (p.Ser150Ala)
c.2023T>G (p.Ser675Ala)
c.2002T>G (p.Ser668Ala)
c.1807T>G (p.Ser603Ala)
c.1864T>G (p.Ser622Ala)
n.2058T>G
n.1965T>G
7g.81974527A>GCA367892855CACNA2D1c.2017T>C (p.Ser673Pro)
c.1748T>C
c.1861T>C (p.Ser621Pro)
c.1981T>C (p.Ser661Pro)
c.513T>C
c.1966T>C (p.Ser656Pro)
c.1960T>C (p.Ser654Pro)
c.1945T>C (p.Ser649Pro)
c.2038T>C (p.Ser680Pro)
c.1963T>C (p.Ser655Pro)
c.1921T>C (p.Ser641Pro)
c.448T>C (p.Ser150Pro)
c.2023T>C (p.Ser675Pro)
c.2002T>C (p.Ser668Pro)
c.1807T>C (p.Ser603Pro)
c.1864T>C (p.Ser622Pro)
n.2058T>C
n.1965T>C
 gnomAD v4 COSMIC COSMIC
7g.81974527A>TCA367892857CACNA2D1c.2017T>A (p.Ser673Thr)
c.1748T>A
c.1861T>A (p.Ser621Thr)
c.1981T>A (p.Ser661Thr)
c.513T>A
c.1966T>A (p.Ser656Thr)
c.1960T>A (p.Ser654Thr)
c.1945T>A (p.Ser649Thr)
c.2038T>A (p.Ser680Thr)
c.1963T>A (p.Ser655Thr)
c.1921T>A (p.Ser641Thr)
c.448T>A (p.Ser150Thr)
c.2023T>A (p.Ser675Thr)
c.2002T>A (p.Ser668Thr)
c.1807T>A (p.Ser603Thr)
c.1864T>A (p.Ser622Thr)
n.2058T>A
n.1965T>A
7g.81974528T>ACA456132743CACNA2D1c.2016A>T (p.Ile672=)
c.1747A>T
c.1860A>T (p.Ile620=)
c.1980A>T (p.Ile660=)
c.512A>T
c.1965A>T (p.Ile655=)
c.1959A>T (p.Ile653=)
c.1944A>T (p.Ile648=)
c.2037A>T (p.Ile679=)
c.1962A>T (p.Ile654=)
c.1920A>T (p.Ile640=)
c.447A>T (p.Ile149=)
c.2022A>T (p.Ile674=)
c.2001A>T (p.Ile667=)
c.1806A>T (p.Ile602=)
c.1863A>T (p.Ile621=)
n.2057A>T
n.1964A>T
7g.81974528T>CCA367892860CACNA2D1c.2016A>G (p.Ile672Met)
c.1747A>G
c.1860A>G (p.Ile620Met)
c.1980A>G (p.Ile660Met)
c.512A>G
c.1965A>G (p.Ile655Met)
c.1959A>G (p.Ile653Met)
c.1944A>G (p.Ile648Met)
c.2037A>G (p.Ile679Met)
c.1962A>G (p.Ile654Met)
c.1920A>G (p.Ile640Met)
c.447A>G (p.Ile149Met)
c.2022A>G (p.Ile674Met)
c.2001A>G (p.Ile667Met)
c.1806A>G (p.Ile602Met)
c.1863A>G (p.Ile621Met)
n.2057A>G
n.1964A>G
 dbSNP gnomAD v4
7g.81974528T>GCA456132746CACNA2D1c.2016A>C (p.Ile672=)
c.1747A>C
c.1860A>C (p.Ile620=)
c.1980A>C (p.Ile660=)
c.512A>C
c.1965A>C (p.Ile655=)
c.1959A>C (p.Ile653=)
c.1944A>C (p.Ile648=)
c.2037A>C (p.Ile679=)
c.1962A>C (p.Ile654=)
c.1920A>C (p.Ile640=)
c.447A>C (p.Ile149=)
c.2022A>C (p.Ile674=)
c.2001A>C (p.Ile667=)
c.1806A>C (p.Ile602=)
c.1863A>C (p.Ile621=)
n.2057A>C
n.1964A>C
7g.81974528T=CA1720999345CACNA2D1c.2016A= (p.Ile672=)
c.1747A=
c.1860A= (p.Ile620=)
c.1980A= (p.Ile660=)
c.512A=
c.1965A= (p.Ile655=)
c.1959A= (p.Ile653=)
c.1944A= (p.Ile648=)
c.2037A= (p.Ile679=)
c.1962A= (p.Ile654=)
c.1920A= (p.Ile640=)
c.447A= (p.Ile149=)
c.2022A= (p.Ile674=)
c.2001A= (p.Ile667=)
c.1806A= (p.Ile602=)
c.1863A= (p.Ile621=)
n.2057A=
n.1964A=
7g.81974529A=CA1720999349CACNA2D1c.2015T= (p.Ile672=)
c.1746T=
c.1859T= (p.Ile620=)
c.1979T= (p.Ile660=)
c.511T=
c.1964T= (p.Ile655=)
c.1958T= (p.Ile653=)
c.1943T= (p.Ile648=)
c.2036T= (p.Ile679=)
c.1961T= (p.Ile654=)
c.1919T= (p.Ile640=)
c.446T= (p.Ile149=)
c.2021T= (p.Ile674=)
c.2000T= (p.Ile667=)
c.1805T= (p.Ile602=)
c.1862T= (p.Ile621=)
n.2056T=
n.1963T=
7g.81974529A>CCA367892863CACNA2D1c.2015T>G (p.Ile672Arg)
c.1746T>G
c.1859T>G (p.Ile620Arg)
c.1979T>G (p.Ile660Arg)
c.511T>G
c.1964T>G (p.Ile655Arg)
c.1958T>G (p.Ile653Arg)
c.1943T>G (p.Ile648Arg)
c.2036T>G (p.Ile679Arg)
c.1961T>G (p.Ile654Arg)
c.1919T>G (p.Ile640Arg)
c.446T>G (p.Ile149Arg)
c.2021T>G (p.Ile674Arg)
c.2000T>G (p.Ile667Arg)
c.1805T>G (p.Ile602Arg)
c.1862T>G (p.Ile621Arg)
n.2056T>G
n.1963T>G
7g.81974529A>GCA161125705CACNA2D1c.2015T>C (p.Ile672Thr)
c.1746T>C
c.1859T>C (p.Ile620Thr)
c.1979T>C (p.Ile660Thr)
c.511T>C
c.1964T>C (p.Ile655Thr)
c.1958T>C (p.Ile653Thr)
c.1943T>C (p.Ile648Thr)
c.2036T>C (p.Ile679Thr)
c.1961T>C (p.Ile654Thr)
c.1919T>C (p.Ile640Thr)
c.446T>C (p.Ile149Thr)
c.2021T>C (p.Ile674Thr)
c.2000T>C (p.Ile667Thr)
c.1805T>C (p.Ile602Thr)
c.1862T>C (p.Ile621Thr)
n.2056T>C
n.1963T>C
 dbSNP
7g.81974529A>TCA367892867CACNA2D1c.2015T>A (p.Ile672Lys)
c.1746T>A
c.1859T>A (p.Ile620Lys)
c.1979T>A (p.Ile660Lys)
c.511T>A
c.1964T>A (p.Ile655Lys)
c.1958T>A (p.Ile653Lys)
c.1943T>A (p.Ile648Lys)
c.2036T>A (p.Ile679Lys)
c.1961T>A (p.Ile654Lys)
c.1919T>A (p.Ile640Lys)
c.446T>A (p.Ile149Lys)
c.2021T>A (p.Ile674Lys)
c.2000T>A (p.Ile667Lys)
c.1805T>A (p.Ile602Lys)
c.1862T>A (p.Ile621Lys)
n.2056T>A
n.1963T>A
7g.81974530T>ACA367892874CACNA2D1c.2014A>T (p.Ile672Leu)
c.1745A>T
c.1858A>T (p.Ile620Leu)
c.1978A>T (p.Ile660Leu)
c.510A>T
c.1963A>T (p.Ile655Leu)
c.1957A>T (p.Ile653Leu)
c.1942A>T (p.Ile648Leu)
c.2035A>T (p.Ile679Leu)
c.1960A>T (p.Ile654Leu)
c.1918A>T (p.Ile640Leu)
c.445A>T (p.Ile149Leu)
c.2020A>T (p.Ile674Leu)
c.1999A>T (p.Ile667Leu)
c.1804A>T (p.Ile602Leu)
c.1861A>T (p.Ile621Leu)
n.2055A>T
n.1962A>T
7g.81974530T>CCA367892872CACNA2D1c.2014A>G (p.Ile672Val)
c.1745A>G
c.1858A>G (p.Ile620Val)
c.1978A>G (p.Ile660Val)
c.510A>G
c.1963A>G (p.Ile655Val)
c.1957A>G (p.Ile653Val)
c.1942A>G (p.Ile648Val)
c.2035A>G (p.Ile679Val)
c.1960A>G (p.Ile654Val)
c.1918A>G (p.Ile640Val)
c.445A>G (p.Ile149Val)
c.2020A>G (p.Ile674Val)
c.1999A>G (p.Ile667Val)
c.1804A>G (p.Ile602Val)
c.1861A>G (p.Ile621Val)
n.2055A>G
n.1962A>G
7g.81974530T>GCA367892871CACNA2D1c.2014A>C (p.Ile672Leu)
c.1745A>C
c.1858A>C (p.Ile620Leu)
c.1978A>C (p.Ile660Leu)
c.510A>C
c.1963A>C (p.Ile655Leu)
c.1957A>C (p.Ile653Leu)
c.1942A>C (p.Ile648Leu)
c.2035A>C (p.Ile679Leu)
c.1960A>C (p.Ile654Leu)
c.1918A>C (p.Ile640Leu)
c.445A>C (p.Ile149Leu)
c.2020A>C (p.Ile674Leu)
c.1999A>C (p.Ile667Leu)
c.1804A>C (p.Ile602Leu)
c.1861A>C (p.Ile621Leu)
n.2055A>C
n.1962A>C
7g.81974533delCA2683539871CACNA2D1c.2014del (p.Ile672TyrfsTer10)
c.1745del
c.1858del (p.Ile620TyrfsTer10)
c.1978del (p.Ile660TyrfsTer10)
c.510del
c.1963del (p.Ile655TyrfsTer10)
c.1957del (p.Ile653TyrfsTer10)
c.1942del (p.Ile648TyrfsTer10)
c.2035del (p.Ile679TyrfsTer10)
c.1960del (p.Ile654TyrfsTer10)
c.1918del (p.Ile640TyrfsTer10)
c.445del (p.Ile149TyrfsTer10)
c.2020del (p.Ile674TyrfsTer10)
c.1999del (p.Ile667TyrfsTer10)
c.1804del (p.Ile602TyrfsTer10)
c.1861del (p.Ile621TyrfsTer10)
n.2055del
n.1962del
 gnomAD v4
7g.81974531T>ACA367892876CACNA2D1c.2013A>T (p.Lys671Asn)
c.1744A>T
c.1857A>T (p.Lys619Asn)
c.1977A>T (p.Lys659Asn)
c.509A>T
c.1962A>T (p.Lys654Asn)
c.1956A>T (p.Lys652Asn)
c.1941A>T (p.Lys647Asn)
c.2034A>T (p.Lys678Asn)
c.1959A>T (p.Lys653Asn)
c.1917A>T (p.Lys639Asn)
c.444A>T (p.Lys148Asn)
c.2019A>T (p.Lys673Asn)
c.1998A>T (p.Lys666Asn)
c.1803A>T (p.Lys601Asn)
c.1860A>T (p.Lys620Asn)
n.2054A>T
n.1961A>T
7g.81974531T>CCA456132748CACNA2D1c.2013A>G (p.Lys671=)
c.1744A>G
c.1857A>G (p.Lys619=)
c.1977A>G (p.Lys659=)
c.509A>G
c.1962A>G (p.Lys654=)
c.1956A>G (p.Lys652=)
c.1941A>G (p.Lys647=)
c.2034A>G (p.Lys678=)
c.1959A>G (p.Lys653=)
c.1917A>G (p.Lys639=)
c.444A>G (p.Lys148=)
c.2019A>G (p.Lys673=)
c.1998A>G (p.Lys666=)
c.1803A>G (p.Lys601=)
c.1860A>G (p.Lys620=)
n.2054A>G
n.1961A>G
 gnomAD v4
7g.81974531T>GCA367892878CACNA2D1c.2013A>C (p.Lys671Asn)
c.1744A>C
c.1857A>C (p.Lys619Asn)
c.1977A>C (p.Lys659Asn)
c.509A>C
c.1962A>C (p.Lys654Asn)
c.1956A>C (p.Lys652Asn)
c.1941A>C (p.Lys647Asn)
c.2034A>C (p.Lys678Asn)
c.1959A>C (p.Lys653Asn)
c.1917A>C (p.Lys639Asn)
c.444A>C (p.Lys148Asn)
c.2019A>C (p.Lys673Asn)
c.1998A>C (p.Lys666Asn)
c.1803A>C (p.Lys601Asn)
c.1860A>C (p.Lys620Asn)
n.2054A>C
n.1961A>C
7g.81974532T>ACA367892881CACNA2D1c.2012A>T (p.Lys671Ile)
c.1743A>T
c.1856A>T (p.Lys619Ile)
c.1976A>T (p.Lys659Ile)
c.508A>T
c.1961A>T (p.Lys654Ile)
c.1955A>T (p.Lys652Ile)
c.1940A>T (p.Lys647Ile)
c.2033A>T (p.Lys678Ile)
c.1958A>T (p.Lys653Ile)
c.1916A>T (p.Lys639Ile)
c.443A>T (p.Lys148Ile)
c.2018A>T (p.Lys673Ile)
c.1997A>T (p.Lys666Ile)
c.1802A>T (p.Lys601Ile)
c.1859A>T (p.Lys620Ile)
n.2053A>T
n.1960A>T
7g.81974532T>CCA367892883CACNA2D1c.2012A>G (p.Lys671Arg)
c.1743A>G
c.1856A>G (p.Lys619Arg)
c.1976A>G (p.Lys659Arg)
c.508A>G
c.1961A>G (p.Lys654Arg)
c.1955A>G (p.Lys652Arg)
c.1940A>G (p.Lys647Arg)
c.2033A>G (p.Lys678Arg)
c.1958A>G (p.Lys653Arg)
c.1916A>G (p.Lys639Arg)
c.443A>G (p.Lys148Arg)
c.2018A>G (p.Lys673Arg)
c.1997A>G (p.Lys666Arg)
c.1802A>G (p.Lys601Arg)
c.1859A>G (p.Lys620Arg)
n.2053A>G
n.1960A>G
 gnomAD v4
7g.81974532T>GCA4317787CACNA2D1c.2012A>C (p.Lys671Thr)
c.1743A>C
c.1856A>C (p.Lys619Thr)
c.1976A>C (p.Lys659Thr)
c.508A>C
c.1961A>C (p.Lys654Thr)
c.1955A>C (p.Lys652Thr)
c.1940A>C (p.Lys647Thr)
c.2033A>C (p.Lys678Thr)
c.1958A>C (p.Lys653Thr)
c.1916A>C (p.Lys639Thr)
c.443A>C (p.Lys148Thr)
c.2018A>C (p.Lys673Thr)
c.1997A>C (p.Lys666Thr)
c.1802A>C (p.Lys601Thr)
c.1859A>C (p.Lys620Thr)
n.2053A>C
n.1960A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.81974532T=CA1720999351CACNA2D1c.2012A= (p.Lys671=)
c.1743A=
c.1856A= (p.Lys619=)
c.1976A= (p.Lys659=)
c.508A=
c.1961A= (p.Lys654=)
c.1955A= (p.Lys652=)
c.1940A= (p.Lys647=)
c.2033A= (p.Lys678=)
c.1958A= (p.Lys653=)
c.1916A= (p.Lys639=)
c.443A= (p.Lys148=)
c.2018A= (p.Lys673=)
c.1997A= (p.Lys666=)
c.1802A= (p.Lys601=)
c.1859A= (p.Lys620=)
n.2053A=
n.1960A=
7g.81974533T>ACA367892887CACNA2D1c.2011A>T (p.Lys671Ter)
c.1742A>T
c.1855A>T (p.Lys619Ter)
c.1975A>T (p.Lys659Ter)
c.507A>T
c.1960A>T (p.Lys654Ter)
c.1954A>T (p.Lys652Ter)
c.1939A>T (p.Lys647Ter)
c.2032A>T (p.Lys678Ter)
c.1957A>T (p.Lys653Ter)
c.1915A>T (p.Lys639Ter)
c.442A>T (p.Lys148Ter)
c.2017A>T (p.Lys673Ter)
c.1996A>T (p.Lys666Ter)
c.1801A>T (p.Lys601Ter)
c.1858A>T (p.Lys620Ter)
n.2052A>T
n.1959A>T
 dbSNP
7g.81974533T>CCA4317788CACNA2D1c.2011A>G (p.Lys671Glu)
c.1742A>G
c.1855A>G (p.Lys619Glu)
c.1975A>G (p.Lys659Glu)
c.507A>G
c.1960A>G (p.Lys654Glu)
c.1954A>G (p.Lys652Glu)
c.1939A>G (p.Lys647Glu)
c.2032A>G (p.Lys678Glu)
c.1957A>G (p.Lys653Glu)
c.1915A>G (p.Lys639Glu)
c.442A>G (p.Lys148Glu)
c.2017A>G (p.Lys673Glu)
c.1996A>G (p.Lys666Glu)
c.1801A>G (p.Lys601Glu)
c.1858A>G (p.Lys620Glu)
n.2052A>G
n.1959A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.81974533T>GCA367892890CACNA2D1c.2011A>C (p.Lys671Gln)
c.1742A>C
c.1855A>C (p.Lys619Gln)
c.1975A>C (p.Lys659Gln)
c.507A>C
c.1960A>C (p.Lys654Gln)
c.1954A>C (p.Lys652Gln)
c.1939A>C (p.Lys647Gln)
c.2032A>C (p.Lys678Gln)
c.1957A>C (p.Lys653Gln)
c.1915A>C (p.Lys639Gln)
c.442A>C (p.Lys148Gln)
c.2017A>C (p.Lys673Gln)
c.1996A>C (p.Lys666Gln)
c.1801A>C (p.Lys601Gln)
c.1858A>C (p.Lys620Gln)
n.2052A>C
n.1959A>C
7g.81974533T=CA1720999354CACNA2D1c.2011A= (p.Lys671=)
c.1742A=
c.1855A= (p.Lys619=)
c.1975A= (p.Lys659=)
c.507A=
c.1960A= (p.Lys654=)
c.1954A= (p.Lys652=)
c.1939A= (p.Lys647=)
c.2032A= (p.Lys678=)
c.1957A= (p.Lys653=)
c.1915A= (p.Lys639=)
c.442A= (p.Lys148=)
c.2017A= (p.Lys673=)
c.1996A= (p.Lys666=)
c.1801A= (p.Lys601=)
c.1858A= (p.Lys620=)
n.2052A=
n.1959A=
7g.81974534C>ACA456132754CACNA2D1c.2010G>T (p.Leu670=)
c.1741G>T
c.1854G>T (p.Leu618=)
c.1974G>T (p.Leu658=)
c.506G>T
c.1959G>T (p.Leu653=)
c.1953G>T (p.Leu651=)
c.1938G>T (p.Leu646=)
c.2031G>T (p.Leu677=)
c.1956G>T (p.Leu652=)
c.1914G>T (p.Leu638=)
c.441G>T (p.Leu147=)
c.2016G>T (p.Leu672=)
c.1995G>T (p.Leu665=)
c.1800G>T (p.Leu600=)
c.1857G>T (p.Leu619=)
n.2051G>T
n.1958G>T
 gnomAD v4
7g.81974534C>GCA456132756CACNA2D1c.2010G>C (p.Leu670=)
c.1741G>C
c.1854G>C (p.Leu618=)
c.1974G>C (p.Leu658=)
c.506G>C
c.1959G>C (p.Leu653=)
c.1953G>C (p.Leu651=)
c.1938G>C (p.Leu646=)
c.2031G>C (p.Leu677=)
c.1956G>C (p.Leu652=)
c.1914G>C (p.Leu638=)
c.441G>C (p.Leu147=)
c.2016G>C (p.Leu672=)
c.1995G>C (p.Leu665=)
c.1800G>C (p.Leu600=)
c.1857G>C (p.Leu619=)
n.2051G>C
n.1958G>C
 gnomAD v4
7g.81974534C>TCA456132755CACNA2D1c.2010G>A (p.Leu670=)
c.1741G>A
c.1854G>A (p.Leu618=)
c.1974G>A (p.Leu658=)
c.506G>A
c.1959G>A (p.Leu653=)
c.1953G>A (p.Leu651=)
c.1938G>A (p.Leu646=)
c.2031G>A (p.Leu677=)
c.1956G>A (p.Leu652=)
c.1914G>A (p.Leu638=)
c.441G>A (p.Leu147=)
c.2016G>A (p.Leu672=)
c.1995G>A (p.Leu665=)
c.1800G>A (p.Leu600=)
c.1857G>A (p.Leu619=)
n.2051G>A
n.1958G>A
 gnomAD v4
7g.81974535A>CCA367892892CACNA2D1c.2009T>G (p.Leu670Arg)
c.1740T>G
c.1853T>G (p.Leu618Arg)
c.1973T>G (p.Leu658Arg)
c.505T>G
c.1958T>G (p.Leu653Arg)
c.1952T>G (p.Leu651Arg)
c.1937T>G (p.Leu646Arg)
c.2030T>G (p.Leu677Arg)
c.1955T>G (p.Leu652Arg)
c.1913T>G (p.Leu638Arg)
c.440T>G (p.Leu147Arg)
c.2015T>G (p.Leu672Arg)
c.1994T>G (p.Leu665Arg)
c.1799T>G (p.Leu600Arg)
c.1856T>G (p.Leu619Arg)
n.2050T>G
n.1957T>G
7g.81974535A>GCA367892897CACNA2D1c.2009T>C (p.Leu670Pro)
c.1740T>C
c.1853T>C (p.Leu618Pro)
c.1973T>C (p.Leu658Pro)
c.505T>C
c.1958T>C (p.Leu653Pro)
c.1952T>C (p.Leu651Pro)
c.1937T>C (p.Leu646Pro)
c.2030T>C (p.Leu677Pro)
c.1955T>C (p.Leu652Pro)
c.1913T>C (p.Leu638Pro)
c.440T>C (p.Leu147Pro)
c.2015T>C (p.Leu672Pro)
c.1994T>C (p.Leu665Pro)
c.1799T>C (p.Leu600Pro)
c.1856T>C (p.Leu619Pro)
n.2050T>C
n.1957T>C
 gnomAD v4
7g.81974535A>TCA367892895CACNA2D1c.2009T>A (p.Leu670Gln)
c.1740T>A
c.1853T>A (p.Leu618Gln)
c.1973T>A (p.Leu658Gln)
c.505T>A
c.1958T>A (p.Leu653Gln)
c.1952T>A (p.Leu651Gln)
c.1937T>A (p.Leu646Gln)
c.2030T>A (p.Leu677Gln)
c.1955T>A (p.Leu652Gln)
c.1913T>A (p.Leu638Gln)
c.440T>A (p.Leu147Gln)
c.2015T>A (p.Leu672Gln)
c.1994T>A (p.Leu665Gln)
c.1799T>A (p.Leu600Gln)
c.1856T>A (p.Leu619Gln)
n.2050T>A
n.1957T>A
 gnomAD v4
7g.81974537_81974573dupCA2683539878CACNA2D1c.1992-19_2009dup
c.1723-19_1740dup
c.1836-19_1853dup
c.1956-19_1973dup
c.488-19_505dup
c.1941-19_1958dup
c.1935-19_1952dup
c.1920-19_1937dup
c.2013-19_2030dup
c.1938-19_1955dup
c.1896-19_1913dup
c.423-19_440dup
c.1998-19_2015dup
c.1977-19_1994dup
c.1782-19_1799dup
c.1839-19_1856dup
n.2033-19_2050dup
n.1940-19_1957dup
 gnomAD v4
7g.81974536G>ACA161125716CACNA2D1c.2008C>T (p.Leu670=)
c.1739C>T
c.1852C>T (p.Leu618=)
c.1972C>T (p.Leu658=)
c.504C>T
c.1957C>T (p.Leu653=)
c.1951C>T (p.Leu651=)
c.1936C>T (p.Leu646=)
c.2029C>T (p.Leu677=)
c.1954C>T (p.Leu652=)
c.1912C>T (p.Leu638=)
c.439C>T (p.Leu147=)
c.2014C>T (p.Leu672=)
c.1993C>T (p.Leu665=)
c.1798C>T (p.Leu600=)
c.1855C>T (p.Leu619=)
n.2049C>T
n.1956C>T
 dbSNP
7g.81974536G>CCA367892899CACNA2D1c.2008C>G (p.Leu670Val)
c.1739C>G
c.1852C>G (p.Leu618Val)
c.1972C>G (p.Leu658Val)
c.504C>G
c.1957C>G (p.Leu653Val)
c.1951C>G (p.Leu651Val)
c.1936C>G (p.Leu646Val)
c.2029C>G (p.Leu677Val)
c.1954C>G (p.Leu652Val)
c.1912C>G (p.Leu638Val)
c.439C>G (p.Leu147Val)
c.2014C>G (p.Leu672Val)
c.1993C>G (p.Leu665Val)
c.1798C>G (p.Leu600Val)
c.1855C>G (p.Leu619Val)
n.2049C>G
n.1956C>G
7g.81974536G=CA1720999357CACNA2D1c.2008C= (p.Leu670=)
c.1739C=
c.1852C= (p.Leu618=)
c.1972C= (p.Leu658=)
c.504C=
c.1957C= (p.Leu653=)
c.1951C= (p.Leu651=)
c.1936C= (p.Leu646=)
c.2029C= (p.Leu677=)
c.1954C= (p.Leu652=)
c.1912C= (p.Leu638=)
c.439C= (p.Leu147=)
c.2014C= (p.Leu672=)
c.1993C= (p.Leu665=)
c.1798C= (p.Leu600=)
c.1855C= (p.Leu619=)
n.2049C=
n.1956C=
7g.81974536G>TCA367892900CACNA2D1c.2008C>A (p.Leu670Met)
c.1739C>A
c.1852C>A (p.Leu618Met)
c.1972C>A (p.Leu658Met)
c.504C>A
c.1957C>A (p.Leu653Met)
c.1951C>A (p.Leu651Met)
c.1936C>A (p.Leu646Met)
c.2029C>A (p.Leu677Met)
c.1954C>A (p.Leu652Met)
c.1912C>A (p.Leu638Met)
c.439C>A (p.Leu147Met)
c.2014C>A (p.Leu672Met)
c.1993C>A (p.Leu665Met)
c.1798C>A (p.Leu600Met)
c.1855C>A (p.Leu619Met)
n.2049C>A
n.1956C>A
 gnomAD v4
7g.81974537G>ACA456132758CACNA2D1c.2007C>T (p.Asp669=)
c.1738C>T
c.1851C>T (p.Asp617=)
c.1971C>T (p.Asp657=)
c.503C>T
c.1956C>T (p.Asp652=)
c.1950C>T (p.Asp650=)
c.1935C>T (p.Asp645=)
c.2028C>T (p.Asp676=)
c.1953C>T (p.Asp651=)
c.1911C>T (p.Asp637=)
c.438C>T (p.Asp146=)
c.2013C>T (p.Asp671=)
c.1992C>T (p.Asp664=)
c.1797C>T (p.Asp599=)
c.1854C>T (p.Asp618=)
n.2048C>T
n.1955C>T
 gnomAD v4
7g.81974537G>CCA367892904CACNA2D1c.2007C>G (p.Asp669Glu)
c.1738C>G
c.1851C>G (p.Asp617Glu)
c.1971C>G (p.Asp657Glu)
c.503C>G
c.1956C>G (p.Asp652Glu)
c.1950C>G (p.Asp650Glu)
c.1935C>G (p.Asp645Glu)
c.2028C>G (p.Asp676Glu)
c.1953C>G (p.Asp651Glu)
c.1911C>G (p.Asp637Glu)
c.438C>G (p.Asp146Glu)
c.2013C>G (p.Asp671Glu)
c.1992C>G (p.Asp664Glu)
c.1797C>G (p.Asp599Glu)
c.1854C>G (p.Asp618Glu)
n.2048C>G
n.1955C>G
7g.81974537G>TCA367892905CACNA2D1c.2007C>A (p.Asp669Glu)
c.1738C>A
c.1851C>A (p.Asp617Glu)
c.1971C>A (p.Asp657Glu)
c.503C>A
c.1956C>A (p.Asp652Glu)
c.1950C>A (p.Asp650Glu)
c.1935C>A (p.Asp645Glu)
c.2028C>A (p.Asp676Glu)
c.1953C>A (p.Asp651Glu)
c.1911C>A (p.Asp637Glu)
c.438C>A (p.Asp146Glu)
c.2013C>A (p.Asp671Glu)
c.1992C>A (p.Asp664Glu)
c.1797C>A (p.Asp599Glu)
c.1854C>A (p.Asp618Glu)
n.2048C>A
n.1955C>A
 gnomAD v4
7g.81974538T>ACA367892907CACNA2D1c.2006A>T (p.Asp669Val)
c.1737A>T
c.1850A>T (p.Asp617Val)
c.1970A>T (p.Asp657Val)
c.502A>T
c.1955A>T (p.Asp652Val)
c.1949A>T (p.Asp650Val)
c.1934A>T (p.Asp645Val)
c.2027A>T (p.Asp676Val)
c.1952A>T (p.Asp651Val)
c.1910A>T (p.Asp637Val)
c.437A>T (p.Asp146Val)
c.2012A>T (p.Asp671Val)
c.1991A>T (p.Asp664Val)
c.1796A>T (p.Asp599Val)
c.1853A>T (p.Asp618Val)
n.2047A>T
n.1954A>T
7g.81974538T>CCA367892911CACNA2D1c.2006A>G (p.Asp669Gly)
c.1737A>G
c.1850A>G (p.Asp617Gly)
c.1970A>G (p.Asp657Gly)
c.502A>G
c.1955A>G (p.Asp652Gly)
c.1949A>G (p.Asp650Gly)
c.1934A>G (p.Asp645Gly)
c.2027A>G (p.Asp676Gly)
c.1952A>G (p.Asp651Gly)
c.1910A>G (p.Asp637Gly)
c.437A>G (p.Asp146Gly)
c.2012A>G (p.Asp671Gly)
c.1991A>G (p.Asp664Gly)
c.1796A>G (p.Asp599Gly)
c.1853A>G (p.Asp618Gly)
n.2047A>G
n.1954A>G
7g.81974538T>GCA367892909CACNA2D1c.2006A>C (p.Asp669Ala)
c.1737A>C
c.1850A>C (p.Asp617Ala)
c.1970A>C (p.Asp657Ala)
c.502A>C
c.1955A>C (p.Asp652Ala)
c.1949A>C (p.Asp650Ala)
c.1934A>C (p.Asp645Ala)
c.2027A>C (p.Asp676Ala)
c.1952A>C (p.Asp651Ala)
c.1910A>C (p.Asp637Ala)
c.437A>C (p.Asp146Ala)
c.2012A>C (p.Asp671Ala)
c.1991A>C (p.Asp664Ala)
c.1796A>C (p.Asp599Ala)
c.1853A>C (p.Asp618Ala)
n.2047A>C
n.1954A>C
 gnomAD v4
7g.81974539C>ACA367892914CACNA2D1c.2005G>T (p.Asp669Tyr)
c.1736G>T
c.1849G>T (p.Asp617Tyr)
c.1969G>T (p.Asp657Tyr)
c.501G>T
c.1954G>T (p.Asp652Tyr)
c.1948G>T (p.Asp650Tyr)
c.1933G>T (p.Asp645Tyr)
c.2026G>T (p.Asp676Tyr)
c.1951G>T (p.Asp651Tyr)
c.1909G>T (p.Asp637Tyr)
c.436G>T (p.Asp146Tyr)
c.2011G>T (p.Asp671Tyr)
c.1990G>T (p.Asp664Tyr)
c.1795G>T (p.Asp599Tyr)
c.1852G>T (p.Asp618Tyr)
n.2046G>T
n.1953G>T
 gnomAD v4
7g.81974539C>GCA367892915CACNA2D1c.2005G>C (p.Asp669His)
c.1736G>C
c.1849G>C (p.Asp617His)
c.1969G>C (p.Asp657His)
c.501G>C
c.1954G>C (p.Asp652His)
c.1948G>C (p.Asp650His)
c.1933G>C (p.Asp645His)
c.2026G>C (p.Asp676His)
c.1951G>C (p.Asp651His)
c.1909G>C (p.Asp637His)
c.436G>C (p.Asp146His)
c.2011G>C (p.Asp671His)
c.1990G>C (p.Asp664His)
c.1795G>C (p.Asp599His)
c.1852G>C (p.Asp618His)
n.2046G>C
n.1953G>C
7g.81974539C>TCA367892917CACNA2D1c.2005G>A (p.Asp669Asn)
c.1736G>A
c.1849G>A (p.Asp617Asn)
c.1969G>A (p.Asp657Asn)
c.501G>A
c.1954G>A (p.Asp652Asn)
c.1948G>A (p.Asp650Asn)
c.1933G>A (p.Asp645Asn)
c.2026G>A (p.Asp676Asn)
c.1951G>A (p.Asp651Asn)
c.1909G>A (p.Asp637Asn)
c.436G>A (p.Asp146Asn)
c.2011G>A (p.Asp671Asn)
c.1990G>A (p.Asp664Asn)
c.1795G>A (p.Asp599Asn)
c.1852G>A (p.Asp618Asn)
n.2046G>A
n.1953G>A
 gnomAD v4
7g.81974540A>CCA367892919CACNA2D1c.2004T>G (p.Asn668Lys)
c.1735T>G
c.1848T>G (p.Asn616Lys)
c.1968T>G (p.Asn656Lys)
c.500T>G
c.1953T>G (p.Asn651Lys)
c.1947T>G (p.Asn649Lys)
c.1932T>G (p.Asn644Lys)
c.2025T>G (p.Asn675Lys)
c.1950T>G (p.Asn650Lys)
c.1908T>G (p.Asn636Lys)
c.435T>G (p.Asn145Lys)
c.2010T>G (p.Asn670Lys)
c.1989T>G (p.Asn663Lys)
c.1794T>G (p.Asn598Lys)
c.1851T>G (p.Asn617Lys)
n.2045T>G
n.1952T>G
7g.81974540A>GCA456132764CACNA2D1c.2004T>C (p.Asn668=)
c.1735T>C
c.1848T>C (p.Asn616=)
c.1968T>C (p.Asn656=)
c.500T>C
c.1953T>C (p.Asn651=)
c.1947T>C (p.Asn649=)
c.1932T>C (p.Asn644=)
c.2025T>C (p.Asn675=)
c.1950T>C (p.Asn650=)
c.1908T>C (p.Asn636=)
c.435T>C (p.Asn145=)
c.2010T>C (p.Asn670=)
c.1989T>C (p.Asn663=)
c.1794T>C (p.Asn598=)
c.1851T>C (p.Asn617=)
n.2045T>C
n.1952T>C
 gnomAD v4
7g.81974540A>TCA367892921CACNA2D1c.2004T>A (p.Asn668Lys)
c.1735T>A
c.1848T>A (p.Asn616Lys)
c.1968T>A (p.Asn656Lys)
c.500T>A
c.1953T>A (p.Asn651Lys)
c.1947T>A (p.Asn649Lys)
c.1932T>A (p.Asn644Lys)
c.2025T>A (p.Asn675Lys)
c.1950T>A (p.Asn650Lys)
c.1908T>A (p.Asn636Lys)
c.435T>A (p.Asn145Lys)
c.2010T>A (p.Asn670Lys)
c.1989T>A (p.Asn663Lys)
c.1794T>A (p.Asn598Lys)
c.1851T>A (p.Asn617Lys)
n.2045T>A
n.1952T>A
7g.81974541T>ACA367892924CACNA2D1c.2003A>T (p.Asn668Ile)
c.1734A>T
c.1847A>T (p.Asn616Ile)
c.1967A>T (p.Asn656Ile)
c.499A>T
c.1952A>T (p.Asn651Ile)
c.1946A>T (p.Asn649Ile)
c.1931A>T (p.Asn644Ile)
c.2024A>T (p.Asn675Ile)
c.1949A>T (p.Asn650Ile)
c.1907A>T (p.Asn636Ile)
c.434A>T (p.Asn145Ile)
c.2009A>T (p.Asn670Ile)
c.1988A>T (p.Asn663Ile)
c.1793A>T (p.Asn598Ile)
c.1850A>T (p.Asn617Ile)
n.2044A>T
n.1951A>T
7g.81974541T>CCA4317789CACNA2D1c.2003A>G (p.Asn668Ser)
c.1734A>G
c.1847A>G (p.Asn616Ser)
c.1967A>G (p.Asn656Ser)
c.499A>G
c.1952A>G (p.Asn651Ser)
c.1946A>G (p.Asn649Ser)
c.1931A>G (p.Asn644Ser)
c.2024A>G (p.Asn675Ser)
c.1949A>G (p.Asn650Ser)
c.1907A>G (p.Asn636Ser)
c.434A>G (p.Asn145Ser)
c.2009A>G (p.Asn670Ser)
c.1988A>G (p.Asn663Ser)
c.1793A>G (p.Asn598Ser)
c.1850A>G (p.Asn617Ser)
n.2044A>G
n.1951A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.81974541T>GCA367892927CACNA2D1c.2003A>C (p.Asn668Thr)
c.1734A>C
c.1847A>C (p.Asn616Thr)
c.1967A>C (p.Asn656Thr)
c.499A>C
c.1952A>C (p.Asn651Thr)
c.1946A>C (p.Asn649Thr)
c.1931A>C (p.Asn644Thr)
c.2024A>C (p.Asn675Thr)
c.1949A>C (p.Asn650Thr)
c.1907A>C (p.Asn636Thr)
c.434A>C (p.Asn145Thr)
c.2009A>C (p.Asn670Thr)
c.1988A>C (p.Asn663Thr)
c.1793A>C (p.Asn598Thr)
c.1850A>C (p.Asn617Thr)
n.2044A>C
n.1951A>C
7g.81974541T=CA1720999361CACNA2D1c.2003A= (p.Asn668=)
c.1734A=
c.1847A= (p.Asn616=)
c.1967A= (p.Asn656=)
c.499A=
c.1952A= (p.Asn651=)
c.1946A= (p.Asn649=)
c.1931A= (p.Asn644=)
c.2024A= (p.Asn675=)
c.1949A= (p.Asn650=)
c.1907A= (p.Asn636=)
c.434A= (p.Asn145=)
c.2009A= (p.Asn670=)
c.1988A= (p.Asn663=)
c.1793A= (p.Asn598=)
c.1850A= (p.Asn617=)
n.2044A=
n.1951A=
7g.81974542T>ACA367892930CACNA2D1c.2002A>T (p.Asn668Tyr)
c.1733A>T
c.1846A>T (p.Asn616Tyr)
c.1966A>T (p.Asn656Tyr)
c.498A>T
c.1951A>T (p.Asn651Tyr)
c.1945A>T (p.Asn649Tyr)
c.1930A>T (p.Asn644Tyr)
c.2023A>T (p.Asn675Tyr)
c.1948A>T (p.Asn650Tyr)
c.1906A>T (p.Asn636Tyr)
c.433A>T (p.Asn145Tyr)
c.2008A>T (p.Asn670Tyr)
c.1987A>T (p.Asn663Tyr)
c.1792A>T (p.Asn598Tyr)
c.1849A>T (p.Asn617Tyr)
n.2043A>T
n.1950A>T
7g.81974542T>CCA367892932CACNA2D1c.2002A>G (p.Asn668Asp)
c.1733A>G
c.1846A>G (p.Asn616Asp)
c.1966A>G (p.Asn656Asp)
c.498A>G
c.1951A>G (p.Asn651Asp)
c.1945A>G (p.Asn649Asp)
c.1930A>G (p.Asn644Asp)
c.2023A>G (p.Asn675Asp)
c.1948A>G (p.Asn650Asp)
c.1906A>G (p.Asn636Asp)
c.433A>G (p.Asn145Asp)
c.2008A>G (p.Asn670Asp)
c.1987A>G (p.Asn663Asp)
c.1792A>G (p.Asn598Asp)
c.1849A>G (p.Asn617Asp)
n.2043A>G
n.1950A>G
 gnomAD v4
7g.81974542T>GCA367892934CACNA2D1c.2002A>C (p.Asn668His)
c.1733A>C
c.1846A>C (p.Asn616His)
c.1966A>C (p.Asn656His)
c.498A>C
c.1951A>C (p.Asn651His)
c.1945A>C (p.Asn649His)
c.1930A>C (p.Asn644His)
c.2023A>C (p.Asn675His)
c.1948A>C (p.Asn650His)
c.1906A>C (p.Asn636His)
c.433A>C (p.Asn145His)
c.2008A>C (p.Asn670His)
c.1987A>C (p.Asn663His)
c.1792A>C (p.Asn598His)
c.1849A>C (p.Asn617His)
n.2043A>C
n.1950A>C
7g.81974543G>ACA4317790CACNA2D1c.2001C>T (p.Cys667=)
c.1732C>T
c.1845C>T (p.Cys615=)
c.1965C>T (p.Cys655=)
c.497C>T
c.1950C>T (p.Cys650=)
c.1944C>T (p.Cys648=)
c.1929C>T (p.Cys643=)
c.2022C>T (p.Cys674=)
c.1947C>T (p.Cys649=)
c.1905C>T (p.Cys635=)
c.432C>T (p.Cys144=)
c.2007C>T (p.Cys669=)
c.1986C>T (p.Cys662=)
c.1791C>T (p.Cys597=)
c.1848C>T (p.Cys616=)
n.2042C>T
n.1949C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.81974543G>CCA367892941CACNA2D1c.2001C>G (p.Cys667Trp)
c.1732C>G
c.1845C>G (p.Cys615Trp)
c.1965C>G (p.Cys655Trp)
c.497C>G
c.1950C>G (p.Cys650Trp)
c.1944C>G (p.Cys648Trp)
c.1929C>G (p.Cys643Trp)
c.2022C>G (p.Cys674Trp)
c.1947C>G (p.Cys649Trp)
c.1905C>G (p.Cys635Trp)
c.432C>G (p.Cys144Trp)
c.2007C>G (p.Cys669Trp)
c.1986C>G (p.Cys662Trp)
c.1791C>G (p.Cys597Trp)
c.1848C>G (p.Cys616Trp)
n.2042C>G
n.1949C>G
7g.81974543G=CA1720999365CACNA2D1c.2001C= (p.Cys667=)
c.1732C=
c.1845C= (p.Cys615=)
c.1965C= (p.Cys655=)
c.497C=
c.1950C= (p.Cys650=)
c.1944C= (p.Cys648=)
c.1929C= (p.Cys643=)
c.2022C= (p.Cys674=)
c.1947C= (p.Cys649=)
c.1905C= (p.Cys635=)
c.432C= (p.Cys144=)
c.2007C= (p.Cys669=)
c.1986C= (p.Cys662=)
c.1791C= (p.Cys597=)
c.1848C= (p.Cys616=)
n.2042C=
n.1949C=
7g.81974543G>TCA367892938CACNA2D1c.2001C>A (p.Cys667Ter)
c.1732C>A
c.1845C>A (p.Cys615Ter)
c.1965C>A (p.Cys655Ter)
c.497C>A
c.1950C>A (p.Cys650Ter)
c.1944C>A (p.Cys648Ter)
c.1929C>A (p.Cys643Ter)
c.2022C>A (p.Cys674Ter)
c.1947C>A (p.Cys649Ter)
c.1905C>A (p.Cys635Ter)
c.432C>A (p.Cys144Ter)
c.2007C>A (p.Cys669Ter)
c.1986C>A (p.Cys662Ter)
c.1791C>A (p.Cys597Ter)
c.1848C>A (p.Cys616Ter)
n.2042C>A
n.1949C>A
 dbSNP gnomAD v4 COSMIC COSMIC
7g.81974544C>ACA367892944CACNA2D1c.2000G>T (p.Cys667Phe)
c.1731G>T
c.1844G>T (p.Cys615Phe)
c.1964G>T (p.Cys655Phe)
c.496G>T
c.1949G>T (p.Cys650Phe)
c.1943G>T (p.Cys648Phe)
c.1928G>T (p.Cys643Phe)
c.2021G>T (p.Cys674Phe)
c.1946G>T (p.Cys649Phe)
c.1904G>T (p.Cys635Phe)
c.431G>T (p.Cys144Phe)
c.2006G>T (p.Cys669Phe)
c.1985G>T (p.Cys662Phe)
c.1790G>T (p.Cys597Phe)
c.1847G>T (p.Cys616Phe)
n.2041G>T
n.1948G>T
 gnomAD v4
7g.81974544C>GCA367892949CACNA2D1c.2000G>C (p.Cys667Ser)
c.1731G>C
c.1844G>C (p.Cys615Ser)
c.1964G>C (p.Cys655Ser)
c.496G>C
c.1949G>C (p.Cys650Ser)
c.1943G>C (p.Cys648Ser)
c.1928G>C (p.Cys643Ser)
c.2021G>C (p.Cys674Ser)
c.1946G>C (p.Cys649Ser)
c.1904G>C (p.Cys635Ser)
c.431G>C (p.Cys144Ser)
c.2006G>C (p.Cys669Ser)
c.1985G>C (p.Cys662Ser)
c.1790G>C (p.Cys597Ser)
c.1847G>C (p.Cys616Ser)
n.2041G>C
n.1948G>C
7g.81974544C>TCA367892946CACNA2D1c.2000G>A (p.Cys667Tyr)
c.1731G>A
c.1844G>A (p.Cys615Tyr)
c.1964G>A (p.Cys655Tyr)
c.496G>A
c.1949G>A (p.Cys650Tyr)
c.1943G>A (p.Cys648Tyr)
c.1928G>A (p.Cys643Tyr)
c.2021G>A (p.Cys674Tyr)
c.1946G>A (p.Cys649Tyr)
c.1904G>A (p.Cys635Tyr)
c.431G>A (p.Cys144Tyr)
c.2006G>A (p.Cys669Tyr)
c.1985G>A (p.Cys662Tyr)
c.1790G>A (p.Cys597Tyr)
c.1847G>A (p.Cys616Tyr)
n.2041G>A
n.1948G>A
 gnomAD v4
7g.81974545A=CA1720999370CACNA2D1c.1999T= (p.Cys667=)
c.1730T=
c.1843T= (p.Cys615=)
c.1963T= (p.Cys655=)
c.495T=
c.1948T= (p.Cys650=)
c.1942T= (p.Cys648=)
c.1927T= (p.Cys643=)
c.2020T= (p.Cys674=)
c.1945T= (p.Cys649=)
c.1903T= (p.Cys635=)
c.430T= (p.Cys144=)
c.2005T= (p.Cys669=)
c.1984T= (p.Cys662=)
c.1789T= (p.Cys597=)
c.1846T= (p.Cys616=)
n.2040T=
n.1947T=
7g.81974545A>CCA367892952CACNA2D1c.1999T>G (p.Cys667Gly)
c.1730T>G
c.1843T>G (p.Cys615Gly)
c.1963T>G (p.Cys655Gly)
c.495T>G
c.1948T>G (p.Cys650Gly)
c.1942T>G (p.Cys648Gly)
c.1927T>G (p.Cys643Gly)
c.2020T>G (p.Cys674Gly)
c.1945T>G (p.Cys649Gly)
c.1903T>G (p.Cys635Gly)
c.430T>G (p.Cys144Gly)
c.2005T>G (p.Cys669Gly)
c.1984T>G (p.Cys662Gly)
c.1789T>G (p.Cys597Gly)
c.1846T>G (p.Cys616Gly)
n.2040T>G
n.1947T>G
7g.81974545A>GCA367892953CACNA2D1c.1999T>C (p.Cys667Arg)
c.1730T>C
c.1843T>C (p.Cys615Arg)
c.1963T>C (p.Cys655Arg)
c.495T>C
c.1948T>C (p.Cys650Arg)
c.1942T>C (p.Cys648Arg)
c.1927T>C (p.Cys643Arg)
c.2020T>C (p.Cys674Arg)
c.1945T>C (p.Cys649Arg)
c.1903T>C (p.Cys635Arg)
c.430T>C (p.Cys144Arg)
c.2005T>C (p.Cys669Arg)
c.1984T>C (p.Cys662Arg)
c.1789T>C (p.Cys597Arg)
c.1846T>C (p.Cys616Arg)
n.2040T>C
n.1947T>C
 dbSNP gnomAD v2 gnomAD v4
7g.81974545A>TCA367892955CACNA2D1c.1999T>A (p.Cys667Ser)
c.1730T>A
c.1843T>A (p.Cys615Ser)
c.1963T>A (p.Cys655Ser)
c.495T>A
c.1948T>A (p.Cys650Ser)
c.1942T>A (p.Cys648Ser)
c.1927T>A (p.Cys643Ser)
c.2020T>A (p.Cys674Ser)
c.1945T>A (p.Cys649Ser)
c.1903T>A (p.Cys635Ser)
c.430T>A (p.Cys144Ser)
c.2005T>A (p.Cys669Ser)
c.1984T>A (p.Cys662Ser)
c.1789T>A (p.Cys597Ser)
c.1846T>A (p.Cys616Ser)
n.2040T>A
n.1947T>A
7g.81974546G>ACA456132777CACNA2D1c.1998C>T (p.Tyr666=)
c.1729C>T
c.1842C>T (p.Tyr614=)
c.1962C>T (p.Tyr654=)
c.494C>T
c.1947C>T (p.Tyr649=)
c.1941C>T (p.Tyr647=)
c.1926C>T (p.Tyr642=)
c.2019C>T (p.Tyr673=)
c.1944C>T (p.Tyr648=)
c.1902C>T (p.Tyr634=)
c.429C>T (p.Tyr143=)
c.2004C>T (p.Tyr668=)
c.1983C>T (p.Tyr661=)
c.1788C>T (p.Tyr596=)
c.1845C>T (p.Tyr615=)
n.2039C>T
n.1946C>T
 ClinVar dbSNP gnomAD v4
7g.81974546G>CCA367892958CACNA2D1c.1998C>G (p.Tyr666Ter)
c.1729C>G
c.1842C>G (p.Tyr614Ter)
c.1962C>G (p.Tyr654Ter)
c.494C>G
c.1947C>G (p.Tyr649Ter)
c.1941C>G (p.Tyr647Ter)
c.1926C>G (p.Tyr642Ter)
c.2019C>G (p.Tyr673Ter)
c.1944C>G (p.Tyr648Ter)
c.1902C>G (p.Tyr634Ter)
c.429C>G (p.Tyr143Ter)
c.2004C>G (p.Tyr668Ter)
c.1983C>G (p.Tyr661Ter)
c.1788C>G (p.Tyr596Ter)
c.1845C>G (p.Tyr615Ter)
n.2039C>G
n.1946C>G
7g.81974546G=CA1720999372CACNA2D1c.1998C= (p.Tyr666=)
c.1729C=
c.1842C= (p.Tyr614=)
c.1962C= (p.Tyr654=)
c.494C=
c.1947C= (p.Tyr649=)
c.1941C= (p.Tyr647=)
c.1926C= (p.Tyr642=)
c.2019C= (p.Tyr673=)
c.1944C= (p.Tyr648=)
c.1902C= (p.Tyr634=)
c.429C= (p.Tyr143=)
c.2004C= (p.Tyr668=)
c.1983C= (p.Tyr661=)
c.1788C= (p.Tyr596=)
c.1845C= (p.Tyr615=)
n.2039C=
n.1946C=
7g.81974546G>TCA367892960CACNA2D1c.1998C>A (p.Tyr666Ter)
c.1729C>A
c.1842C>A (p.Tyr614Ter)
c.1962C>A (p.Tyr654Ter)
c.494C>A
c.1947C>A (p.Tyr649Ter)
c.1941C>A (p.Tyr647Ter)
c.1926C>A (p.Tyr642Ter)
c.2019C>A (p.Tyr673Ter)
c.1944C>A (p.Tyr648Ter)
c.1902C>A (p.Tyr634Ter)
c.429C>A (p.Tyr143Ter)
c.2004C>A (p.Tyr668Ter)
c.1983C>A (p.Tyr661Ter)
c.1788C>A (p.Tyr596Ter)
c.1845C>A (p.Tyr615Ter)
n.2039C>A
n.1946C>A
 gnomAD v4
7g.81974547T>ACA367892963CACNA2D1c.1997A>T (p.Tyr666Phe)
c.1728A>T
c.1841A>T (p.Tyr614Phe)
c.1961A>T (p.Tyr654Phe)
c.493A>T
c.1946A>T (p.Tyr649Phe)
c.1940A>T (p.Tyr647Phe)
c.1925A>T (p.Tyr642Phe)
c.2018A>T (p.Tyr673Phe)
c.1943A>T (p.Tyr648Phe)
c.1901A>T (p.Tyr634Phe)
c.428A>T (p.Tyr143Phe)
c.2003A>T (p.Tyr668Phe)
c.1982A>T (p.Tyr661Phe)
c.1787A>T (p.Tyr596Phe)
c.1844A>T (p.Tyr615Phe)
n.2038A>T
n.1945A>T
 gnomAD v4
7g.81974547T>CCA367892965CACNA2D1c.1997A>G (p.Tyr666Cys)
c.1728A>G
c.1841A>G (p.Tyr614Cys)
c.1961A>G (p.Tyr654Cys)
c.493A>G
c.1946A>G (p.Tyr649Cys)
c.1940A>G (p.Tyr647Cys)
c.1925A>G (p.Tyr642Cys)
c.2018A>G (p.Tyr673Cys)
c.1943A>G (p.Tyr648Cys)
c.1901A>G (p.Tyr634Cys)
c.428A>G (p.Tyr143Cys)
c.2003A>G (p.Tyr668Cys)
c.1982A>G (p.Tyr661Cys)
c.1787A>G (p.Tyr596Cys)
c.1844A>G (p.Tyr615Cys)
n.2038A>G
n.1945A>G
 gnomAD v4
7g.81974547T>GCA367892966CACNA2D1c.1997A>C (p.Tyr666Ser)
c.1728A>C
c.1841A>C (p.Tyr614Ser)
c.1961A>C (p.Tyr654Ser)
c.493A>C
c.1946A>C (p.Tyr649Ser)
c.1940A>C (p.Tyr647Ser)
c.1925A>C (p.Tyr642Ser)
c.2018A>C (p.Tyr673Ser)
c.1943A>C (p.Tyr648Ser)
c.1901A>C (p.Tyr634Ser)
c.428A>C (p.Tyr143Ser)
c.2003A>C (p.Tyr668Ser)
c.1982A>C (p.Tyr661Ser)
c.1787A>C (p.Tyr596Ser)
c.1844A>C (p.Tyr615Ser)
n.2038A>C
n.1945A>C
7g.81974548A=CA1720999375CACNA2D1c.1996T= (p.Tyr666=)
c.1727T=
c.1840T= (p.Tyr614=)
c.1960T= (p.Tyr654=)
c.492T=
c.1945T= (p.Tyr649=)
c.1939T= (p.Tyr647=)
c.1924T= (p.Tyr642=)
c.2017T= (p.Tyr673=)
c.1942T= (p.Tyr648=)
c.1900T= (p.Tyr634=)
c.427T= (p.Tyr143=)
c.2002T= (p.Tyr668=)
c.1981T= (p.Tyr661=)
c.1786T= (p.Tyr596=)
c.1843T= (p.Tyr615=)
n.2037T=
n.1944T=
7g.81974548A>CCA367892968CACNA2D1c.1996T>G (p.Tyr666Asp)
c.1727T>G
c.1840T>G (p.Tyr614Asp)
c.1960T>G (p.Tyr654Asp)
c.492T>G
c.1945T>G (p.Tyr649Asp)
c.1939T>G (p.Tyr647Asp)
c.1924T>G (p.Tyr642Asp)
c.2017T>G (p.Tyr673Asp)
c.1942T>G (p.Tyr648Asp)
c.1900T>G (p.Tyr634Asp)
c.427T>G (p.Tyr143Asp)
c.2002T>G (p.Tyr668Asp)
c.1981T>G (p.Tyr661Asp)
c.1786T>G (p.Tyr596Asp)
c.1843T>G (p.Tyr615Asp)
n.2037T>G
n.1944T>G
7g.81974548A>GCA367892969CACNA2D1c.1996T>C (p.Tyr666His)
c.1727T>C
c.1840T>C (p.Tyr614His)
c.1960T>C (p.Tyr654His)
c.492T>C
c.1945T>C (p.Tyr649His)
c.1939T>C (p.Tyr647His)
c.1924T>C (p.Tyr642His)
c.2017T>C (p.Tyr673His)
c.1942T>C (p.Tyr648His)
c.1900T>C (p.Tyr634His)
c.427T>C (p.Tyr143His)
c.2002T>C (p.Tyr668His)
c.1981T>C (p.Tyr661His)
c.1786T>C (p.Tyr596His)
c.1843T>C (p.Tyr615His)
n.2037T>C
n.1944T>C
 dbSNP gnomAD v4
7g.81974548A>TCA367892970CACNA2D1c.1996T>A (p.Tyr666Asn)
c.1727T>A
c.1840T>A (p.Tyr614Asn)
c.1960T>A (p.Tyr654Asn)
c.492T>A
c.1945T>A (p.Tyr649Asn)
c.1939T>A (p.Tyr647Asn)
c.1924T>A (p.Tyr642Asn)
c.2017T>A (p.Tyr673Asn)
c.1942T>A (p.Tyr648Asn)
c.1900T>A (p.Tyr634Asn)
c.427T>A (p.Tyr143Asn)
c.2002T>A (p.Tyr668Asn)
c.1981T>A (p.Tyr661Asn)
c.1786T>A (p.Tyr596Asn)
c.1843T>A (p.Tyr615Asn)
n.2037T>A
n.1944T>A
7g.81974549delCA2683539900CACNA2D1c.1996del (p.Tyr666ThrfsTer5)
c.1727del
c.1840del (p.Tyr614ThrfsTer5)
c.1960del (p.Tyr654ThrfsTer5)
c.492del
c.1945del (p.Tyr649ThrfsTer5)
c.1939del (p.Tyr647ThrfsTer5)
c.1924del (p.Tyr642ThrfsTer5)
c.2017del (p.Tyr673ThrfsTer5)
c.1942del (p.Tyr648ThrfsTer5)
c.1900del (p.Tyr634ThrfsTer5)
c.427del (p.Tyr143ThrfsTer5)
c.2002del (p.Tyr668ThrfsTer5)
c.1981del (p.Tyr661ThrfsTer5)
c.1786del (p.Tyr596ThrfsTer5)
c.1843del (p.Tyr615ThrfsTer5)
n.2037del
n.1944del
 gnomAD v4
7g.81974549A=CA1720999379CACNA2D1c.1995T= (p.Asp665=)
c.1726T=
c.1839T= (p.Asp613=)
c.1959T= (p.Asp653=)
c.491T=
c.1944T= (p.Asp648=)
c.1938T= (p.Asp646=)
c.1923T= (p.Asp641=)
c.2016T= (p.Asp672=)
c.1941T= (p.Asp647=)
c.1899T= (p.Asp633=)
c.426T= (p.Asp142=)
c.2001T= (p.Asp667=)
c.1980T= (p.Asp660=)
c.1785T= (p.Asp595=)
c.1842T= (p.Asp614=)
n.2036T=
n.1943T=
7g.81974549A>CCA367892972CACNA2D1c.1995T>G (p.Asp665Glu)
c.1726T>G
c.1839T>G (p.Asp613Glu)
c.1959T>G (p.Asp653Glu)
c.491T>G
c.1944T>G (p.Asp648Glu)
c.1938T>G (p.Asp646Glu)
c.1923T>G (p.Asp641Glu)
c.2016T>G (p.Asp672Glu)
c.1941T>G (p.Asp647Glu)
c.1899T>G (p.Asp633Glu)
c.426T>G (p.Asp142Glu)
c.2001T>G (p.Asp667Glu)
c.1980T>G (p.Asp660Glu)
c.1785T>G (p.Asp595Glu)
c.1842T>G (p.Asp614Glu)
n.2036T>G
n.1943T>G
7g.81974549A>GCA456132788CACNA2D1c.1995T>C (p.Asp665=)
c.1726T>C
c.1839T>C (p.Asp613=)
c.1959T>C (p.Asp653=)
c.491T>C
c.1944T>C (p.Asp648=)
c.1938T>C (p.Asp646=)
c.1923T>C (p.Asp641=)
c.2016T>C (p.Asp672=)
c.1941T>C (p.Asp647=)
c.1899T>C (p.Asp633=)
c.426T>C (p.Asp142=)
c.2001T>C (p.Asp667=)
c.1980T>C (p.Asp660=)
c.1785T>C (p.Asp595=)
c.1842T>C (p.Asp614=)
n.2036T>C
n.1943T>C
 dbSNP gnomAD v4
7g.81974549A>TCA367892971CACNA2D1c.1995T>A (p.Asp665Glu)
c.1726T>A
c.1839T>A (p.Asp613Glu)
c.1959T>A (p.Asp653Glu)
c.491T>A
c.1944T>A (p.Asp648Glu)
c.1938T>A (p.Asp646Glu)
c.1923T>A (p.Asp641Glu)
c.2016T>A (p.Asp672Glu)
c.1941T>A (p.Asp647Glu)
c.1899T>A (p.Asp633Glu)
c.426T>A (p.Asp142Glu)
c.2001T>A (p.Asp667Glu)
c.1980T>A (p.Asp660Glu)
c.1785T>A (p.Asp595Glu)
c.1842T>A (p.Asp614Glu)
n.2036T>A
n.1943T>A
7g.81974550T>ACA367892973CACNA2D1c.1994A>T (p.Asp665Val)
c.1725A>T
c.1838A>T (p.Asp613Val)
c.1958A>T (p.Asp653Val)
c.490A>T
c.1943A>T (p.Asp648Val)
c.1937A>T (p.Asp646Val)
c.1922A>T (p.Asp641Val)
c.2015A>T (p.Asp672Val)
c.1940A>T (p.Asp647Val)
c.1898A>T (p.Asp633Val)
c.425A>T (p.Asp142Val)
c.2000A>T (p.Asp667Val)
c.1979A>T (p.Asp660Val)
c.1784A>T (p.Asp595Val)
c.1841A>T (p.Asp614Val)
n.2035A>T
n.1942A>T
 gnomAD v4
7g.81974550T>CCA367892974CACNA2D1c.1994A>G (p.Asp665Gly)
c.1725A>G
c.1838A>G (p.Asp613Gly)
c.1958A>G (p.Asp653Gly)
c.490A>G
c.1943A>G (p.Asp648Gly)
c.1937A>G (p.Asp646Gly)
c.1922A>G (p.Asp641Gly)
c.2015A>G (p.Asp672Gly)
c.1940A>G (p.Asp647Gly)
c.1898A>G (p.Asp633Gly)
c.425A>G (p.Asp142Gly)
c.2000A>G (p.Asp667Gly)
c.1979A>G (p.Asp660Gly)
c.1784A>G (p.Asp595Gly)
c.1841A>G (p.Asp614Gly)
n.2035A>G
n.1942A>G
7g.81974550T>GCA367892975CACNA2D1c.1994A>C (p.Asp665Ala)
c.1725A>C
c.1838A>C (p.Asp613Ala)
c.1958A>C (p.Asp653Ala)
c.490A>C
c.1943A>C (p.Asp648Ala)
c.1937A>C (p.Asp646Ala)
c.1922A>C (p.Asp641Ala)
c.2015A>C (p.Asp672Ala)
c.1940A>C (p.Asp647Ala)
c.1898A>C (p.Asp633Ala)
c.425A>C (p.Asp142Ala)
c.2000A>C (p.Asp667Ala)
c.1979A>C (p.Asp660Ala)
c.1784A>C (p.Asp595Ala)
c.1841A>C (p.Asp614Ala)
n.2035A>C
n.1942A>C
7g.81974553_81974554delCA2683539906CACNA2D1c.1993_1994del
c.1724_1725del
c.1837_1838del
c.1957_1958del
c.489_490del
c.1942_1943del
c.1936_1937del
c.1921_1922del
c.2014_2015del
c.1939_1940del
c.1897_1898del
c.424_425del
c.1999_2000del
c.1978_1979del
c.1783_1784del
c.1840_1841del
n.2034_2035del
n.1941_1942del
 gnomAD v4
7g.81974550_81974555delCA2683539905CACNA2D1c.1992-3_1994del
c.1723-3_1725del
c.1836-3_1838del
c.1956-3_1958del
c.488-3_490del
c.1941-3_1943del
c.1935-3_1937del
c.1920-3_1922del
c.2013-3_2015del
c.1938-3_1940del
c.1896-3_1898del
c.423-3_425del
c.1998-3_2000del
c.1977-3_1979del
c.1782-3_1784del
c.1839-3_1841del
n.2033-3_2035del
n.1940-3_1942del
 gnomAD v4
7g.81974551C>ACA367892976CACNA2D1c.1993G>T (p.Asp665Tyr)
c.1724G>T
c.1837G>T (p.Asp613Tyr)
c.1957G>T (p.Asp653Tyr)
c.489G>T
c.1942G>T (p.Asp648Tyr)
c.1936G>T (p.Asp646Tyr)
c.1921G>T (p.Asp641Tyr)
c.2014G>T (p.Asp672Tyr)
c.1939G>T (p.Asp647Tyr)
c.1897G>T (p.Asp633Tyr)
c.424G>T (p.Asp142Tyr)
c.1999G>T (p.Asp667Tyr)
c.1978G>T (p.Asp660Tyr)
c.1783G>T (p.Asp595Tyr)
c.1840G>T (p.Asp614Tyr)
n.2034G>T
n.1941G>T
 gnomAD v4
7g.81974551C=CA1720999382CACNA2D1c.1993G= (p.Asp665=)
c.1724G=
c.1837G= (p.Asp613=)
c.1957G= (p.Asp653=)
c.489G=
c.1942G= (p.Asp648=)
c.1936G= (p.Asp646=)
c.1921G= (p.Asp641=)
c.2014G= (p.Asp672=)
c.1939G= (p.Asp647=)
c.1897G= (p.Asp633=)
c.424G= (p.Asp142=)
c.1999G= (p.Asp667=)
c.1978G= (p.Asp660=)
c.1783G= (p.Asp595=)
c.1840G= (p.Asp614=)
n.2034G=
n.1941G=
7g.81974551C>GCA367892979CACNA2D1c.1993G>C (p.Asp665His)
c.1724G>C
c.1837G>C (p.Asp613His)
c.1957G>C (p.Asp653His)
c.489G>C
c.1942G>C (p.Asp648His)
c.1936G>C (p.Asp646His)
c.1921G>C (p.Asp641His)
c.2014G>C (p.Asp672His)
c.1939G>C (p.Asp647His)
c.1897G>C (p.Asp633His)
c.424G>C (p.Asp142His)
c.1999G>C (p.Asp667His)
c.1978G>C (p.Asp660His)
c.1783G>C (p.Asp595His)
c.1840G>C (p.Asp614His)
n.2034G>C
n.1941G>C
 dbSNP gnomAD v2 gnomAD v4
7g.81974551C>TCA4317791CACNA2D1c.1993G>A (p.Asp665Asn)
c.1724G>A
c.1837G>A (p.Asp613Asn)
c.1957G>A (p.Asp653Asn)
c.489G>A
c.1942G>A (p.Asp648Asn)
c.1936G>A (p.Asp646Asn)
c.1921G>A (p.Asp641Asn)
c.2014G>A (p.Asp672Asn)
c.1939G>A (p.Asp647Asn)
c.1897G>A (p.Asp633Asn)
c.424G>A (p.Asp142Asn)
c.1999G>A (p.Asp667Asn)
c.1978G>A (p.Asp660Asn)
c.1783G>A (p.Asp595Asn)
c.1840G>A (p.Asp614Asn)
n.2034G>A
n.1941G>A
 dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC COSMIC
7g.81974552T>ACA367892982CACNA2D1c.1992A>T (p.Arg664Ser)
c.1723A>T
c.1836A>T (p.Arg612Ser)
c.1956A>T (p.Arg652Ser)
c.488A>T
c.1941A>T (p.Arg647Ser)
c.1935A>T (p.Arg645Ser)
c.1920A>T (p.Arg640Ser)
c.2013A>T (p.Arg671Ser)
c.1938A>T (p.Arg646Ser)
c.1896A>T (p.Arg632Ser)
c.423A>T (p.Arg141Ser)
c.1998A>T (p.Arg666Ser)
c.1977A>T (p.Arg659Ser)
c.1782A>T (p.Arg594Ser)
c.1839A>T (p.Arg613Ser)
n.2033A>T
n.1940A>T
 gnomAD v4
7g.81974552T>CCA456132793CACNA2D1c.1992A>G (p.Arg664=)
c.1723A>G
c.1836A>G (p.Arg612=)
c.1956A>G (p.Arg652=)
c.488A>G
c.1941A>G (p.Arg647=)
c.1935A>G (p.Arg645=)
c.1920A>G (p.Arg640=)
c.2013A>G (p.Arg671=)
c.1938A>G (p.Arg646=)
c.1896A>G (p.Arg632=)
c.423A>G (p.Arg141=)
c.1998A>G (p.Arg666=)
c.1977A>G (p.Arg659=)
c.1782A>G (p.Arg594=)
c.1839A>G (p.Arg613=)
n.2033A>G
n.1940A>G
 gnomAD v4
7g.81974552T>GCA367892984CACNA2D1c.1992A>C (p.Arg664Ser)
c.1723A>C
c.1836A>C (p.Arg612Ser)
c.1956A>C (p.Arg652Ser)
c.488A>C
c.1941A>C (p.Arg647Ser)
c.1935A>C (p.Arg645Ser)
c.1920A>C (p.Arg640Ser)
c.2013A>C (p.Arg671Ser)
c.1938A>C (p.Arg646Ser)
c.1896A>C (p.Arg632Ser)
c.423A>C (p.Arg141Ser)
c.1998A>C (p.Arg666Ser)
c.1977A>C (p.Arg659Ser)
c.1782A>C (p.Arg594Ser)
c.1839A>C (p.Arg613Ser)
n.2033A>C
n.1940A>C
7g.81974553C>ACA367892987CACNA2D1c.1992-1G>T (n.1992-1G>T)
c.1723-1G>T
c.1836-1G>T (n.1836-1G>T)
c.1956-1G>T (n.1956-1G>T)
c.488-1G>T
c.1941-1G>T (n.1941-1G>T)
c.1935-1G>T (n.1935-1G>T)
c.1920-1G>T (n.1920-1G>T)
c.2013-1G>T (n.2013-1G>T)
c.1938-1G>T (n.1938-1G>T)
c.1896-1G>T (n.1896-1G>T)
c.423-1G>T (n.423-1G>T)
c.1998-1G>T (n.1998-1G>T)
c.1977-1G>T (n.1977-1G>T)
c.1782-1G>T (n.1782-1G>T)
c.1839-1G>T (n.1839-1G>T)
n.2033-1G>T
n.1940-1G>T
 gnomAD v4
7g.81974553C>GCA367892989CACNA2D1c.1992-1G>C (n.1992-1G>C)
c.1723-1G>C
c.1836-1G>C (n.1836-1G>C)
c.1956-1G>C (n.1956-1G>C)
c.488-1G>C
c.1941-1G>C (n.1941-1G>C)
c.1935-1G>C (n.1935-1G>C)
c.1920-1G>C (n.1920-1G>C)
c.2013-1G>C (n.2013-1G>C)
c.1938-1G>C (n.1938-1G>C)
c.1896-1G>C (n.1896-1G>C)
c.423-1G>C (n.423-1G>C)
c.1998-1G>C (n.1998-1G>C)
c.1977-1G>C (n.1977-1G>C)
c.1782-1G>C (n.1782-1G>C)
c.1839-1G>C (n.1839-1G>C)
n.2033-1G>C
n.1940-1G>C
7g.81974553C>TCA367892992CACNA2D1c.1992-1G>A (n.1992-1G>A)
c.1723-1G>A
c.1836-1G>A (n.1836-1G>A)
c.1956-1G>A (n.1956-1G>A)
c.488-1G>A
c.1941-1G>A (n.1941-1G>A)
c.1935-1G>A (n.1935-1G>A)
c.1920-1G>A (n.1920-1G>A)
c.2013-1G>A (n.2013-1G>A)
c.1938-1G>A (n.1938-1G>A)
c.1896-1G>A (n.1896-1G>A)
c.423-1G>A (n.423-1G>A)
c.1998-1G>A (n.1998-1G>A)
c.1977-1G>A (n.1977-1G>A)
c.1782-1G>A (n.1782-1G>A)
c.1839-1G>A (n.1839-1G>A)
n.2033-1G>A
n.1940-1G>A
 gnomAD v4
7g.81974554T>ACA161125728CACNA2D1c.1992-2A>T (n.1992-2A>T)
c.1723-2A>T
c.1836-2A>T (n.1836-2A>T)
c.1956-2A>T (n.1956-2A>T)
c.488-2A>T
c.1941-2A>T (n.1941-2A>T)
c.1935-2A>T (n.1935-2A>T)
c.1920-2A>T (n.1920-2A>T)
c.2013-2A>T (n.2013-2A>T)
c.1938-2A>T (n.1938-2A>T)
c.1896-2A>T (n.1896-2A>T)
c.423-2A>T (n.423-2A>T)
c.1998-2A>T (n.1998-2A>T)
c.1977-2A>T (n.1977-2A>T)
c.1782-2A>T (n.1782-2A>T)
c.1839-2A>T (n.1839-2A>T)
n.2033-2A>T
n.1940-2A>T
 dbSNP gnomAD v4
7g.81974554T>CCA367892998CACNA2D1c.1992-2A>G (n.1992-2A>G)
c.1723-2A>G
c.1836-2A>G (n.1836-2A>G)
c.1956-2A>G (n.1956-2A>G)
c.488-2A>G
c.1941-2A>G (n.1941-2A>G)
c.1935-2A>G (n.1935-2A>G)
c.1920-2A>G (n.1920-2A>G)
c.2013-2A>G (n.2013-2A>G)
c.1938-2A>G (n.1938-2A>G)
c.1896-2A>G (n.1896-2A>G)
c.423-2A>G (n.423-2A>G)
c.1998-2A>G (n.1998-2A>G)
c.1977-2A>G (n.1977-2A>G)
c.1782-2A>G (n.1782-2A>G)
c.1839-2A>G (n.1839-2A>G)
n.2033-2A>G
n.1940-2A>G
 gnomAD v4
7g.81974554T>GCA367892994CACNA2D1c.1992-2A>C (n.1992-2A>C)
c.1723-2A>C
c.1836-2A>C (n.1836-2A>C)
c.1956-2A>C (n.1956-2A>C)
c.488-2A>C
c.1941-2A>C (n.1941-2A>C)
c.1935-2A>C (n.1935-2A>C)
c.1920-2A>C (n.1920-2A>C)
c.2013-2A>C (n.2013-2A>C)
c.1938-2A>C (n.1938-2A>C)
c.1896-2A>C (n.1896-2A>C)
c.423-2A>C (n.423-2A>C)
c.1998-2A>C (n.1998-2A>C)
c.1977-2A>C (n.1977-2A>C)
c.1782-2A>C (n.1782-2A>C)
c.1839-2A>C (n.1839-2A>C)
n.2033-2A>C
n.1940-2A>C
 gnomAD v4
7g.81974554T=CA1720999388CACNA2D1c.1992-2A= (n.1992-2A=)
c.1723-2A=
c.1836-2A= (n.1836-2A=)
c.1956-2A= (n.1956-2A=)
c.488-2A=
c.1941-2A= (n.1941-2A=)
c.1935-2A= (n.1935-2A=)
c.1920-2A= (n.1920-2A=)
c.2013-2A= (n.2013-2A=)
c.1938-2A= (n.1938-2A=)
c.1896-2A= (n.1896-2A=)
c.423-2A= (n.423-2A=)
c.1998-2A= (n.1998-2A=)
c.1977-2A= (n.1977-2A=)
c.1782-2A= (n.1782-2A=)
c.1839-2A= (n.1839-2A=)
n.2033-2A=
n.1940-2A=
7g.81974554dupCA2683539912CACNA2D1c.1992-2dup (n.1992-2dup)
c.1723-2dup
c.1836-2dup (n.1836-2dup)
c.1956-2dup (n.1956-2dup)
c.488-2dup
c.1941-2dup (n.1941-2dup)
c.1935-2dup (n.1935-2dup)
c.1920-2dup (n.1920-2dup)
c.2013-2dup (n.2013-2dup)
c.1938-2dup (n.1938-2dup)
c.1896-2dup (n.1896-2dup)
c.423-2dup (n.423-2dup)
c.1998-2dup (n.1998-2dup)
c.1977-2dup (n.1977-2dup)
c.1782-2dup (n.1782-2dup)
c.1839-2dup (n.1839-2dup)
n.2033-2dup
n.1940-2dup
 gnomAD v4
7g.81974554_81974555insACA2683539917CACNA2D1c.1992-3_1992-2insT (n.1992-3_1992-2insT)
c.1723-3_1723-2insT
c.1836-3_1836-2insT (n.1836-3_1836-2insT)
c.1956-3_1956-2insT (n.1956-3_1956-2insT)
c.488-3_488-2insT
c.1941-3_1941-2insT (n.1941-3_1941-2insT)
c.1935-3_1935-2insT (n.1935-3_1935-2insT)
c.1920-3_1920-2insT (n.1920-3_1920-2insT)
c.2013-3_2013-2insT (n.2013-3_2013-2insT)
c.1938-3_1938-2insT (n.1938-3_1938-2insT)
c.1896-3_1896-2insT (n.1896-3_1896-2insT)
c.423-3_423-2insT (n.423-3_423-2insT)
c.1998-3_1998-2insT (n.1998-3_1998-2insT)
c.1977-3_1977-2insT (n.1977-3_1977-2insT)
c.1782-3_1782-2insT (n.1782-3_1782-2insT)
c.1839-3_1839-2insT (n.1839-3_1839-2insT)
n.2033-3_2033-2insT
n.1940-3_1940-2insT
 gnomAD v4
7g.81974554_81974555insAACA575808335CACNA2D1c.1992-3_1992-2insTT (n.1992-3_1992-2insTT)
c.1723-3_1723-2insTT
c.1836-3_1836-2insTT (n.1836-3_1836-2insTT)
c.1956-3_1956-2insTT (n.1956-3_1956-2insTT)
c.488-3_488-2insTT
c.1941-3_1941-2insTT (n.1941-3_1941-2insTT)
c.1935-3_1935-2insTT (n.1935-3_1935-2insTT)
c.1920-3_1920-2insTT (n.1920-3_1920-2insTT)
c.2013-3_2013-2insTT (n.2013-3_2013-2insTT)
c.1938-3_1938-2insTT (n.1938-3_1938-2insTT)
c.1896-3_1896-2insTT (n.1896-3_1896-2insTT)
c.423-3_423-2insTT (n.423-3_423-2insTT)
c.1998-3_1998-2insTT (n.1998-3_1998-2insTT)
c.1977-3_1977-2insTT (n.1977-3_1977-2insTT)
c.1782-3_1782-2insTT (n.1782-3_1782-2insTT)
c.1839-3_1839-2insTT (n.1839-3_1839-2insTT)
n.2033-3_2033-2insTT
n.1940-3_1940-2insTT
 gnomAD v2 gnomAD v4
7g.81974554_81974555insTACA2683539919CACNA2D1c.1992-3_1992-2insTA (n.1992-3_1992-2insTA)
c.1723-3_1723-2insTA
c.1836-3_1836-2insTA (n.1836-3_1836-2insTA)
c.1956-3_1956-2insTA (n.1956-3_1956-2insTA)
c.488-3_488-2insTA
c.1941-3_1941-2insTA (n.1941-3_1941-2insTA)
c.1935-3_1935-2insTA (n.1935-3_1935-2insTA)
c.1920-3_1920-2insTA (n.1920-3_1920-2insTA)
c.2013-3_2013-2insTA (n.2013-3_2013-2insTA)
c.1938-3_1938-2insTA (n.1938-3_1938-2insTA)
c.1896-3_1896-2insTA (n.1896-3_1896-2insTA)
c.423-3_423-2insTA (n.423-3_423-2insTA)
c.1998-3_1998-2insTA (n.1998-3_1998-2insTA)
c.1977-3_1977-2insTA (n.1977-3_1977-2insTA)
c.1782-3_1782-2insTA (n.1782-3_1782-2insTA)
c.1839-3_1839-2insTA (n.1839-3_1839-2insTA)
n.2033-3_2033-2insTA
n.1940-3_1940-2insTA
 gnomAD v4
7g.81974554_81974555insAAACA575808334CACNA2D1c.1992-3_1992-2insTTT (n.1992-3_1992-2insTTT)
c.1723-3_1723-2insTTT
c.1836-3_1836-2insTTT (n.1836-3_1836-2insTTT)
c.1956-3_1956-2insTTT (n.1956-3_1956-2insTTT)
c.488-3_488-2insTTT
c.1941-3_1941-2insTTT (n.1941-3_1941-2insTTT)
c.1935-3_1935-2insTTT (n.1935-3_1935-2insTTT)
c.1920-3_1920-2insTTT (n.1920-3_1920-2insTTT)
c.2013-3_2013-2insTTT (n.2013-3_2013-2insTTT)
c.1938-3_1938-2insTTT (n.1938-3_1938-2insTTT)
c.1896-3_1896-2insTTT (n.1896-3_1896-2insTTT)
c.423-3_423-2insTTT (n.423-3_423-2insTTT)
c.1998-3_1998-2insTTT (n.1998-3_1998-2insTTT)
c.1977-3_1977-2insTTT (n.1977-3_1977-2insTTT)
c.1782-3_1782-2insTTT (n.1782-3_1782-2insTTT)
c.1839-3_1839-2insTTT (n.1839-3_1839-2insTTT)
n.2033-3_2033-2insTTT
n.1940-3_1940-2insTTT
 gnomAD v2 gnomAD v3 gnomAD v4
7g.81974555G>ACA161125745CACNA2D1c.1992-3C>T (n.1992-3C>T)
c.1723-3C>T
c.1836-3C>T (n.1836-3C>T)
c.1956-3C>T (n.1956-3C>T)
c.488-3C>T
c.1941-3C>T (n.1941-3C>T)
c.1935-3C>T (n.1935-3C>T)
c.1920-3C>T (n.1920-3C>T)
c.2013-3C>T (n.2013-3C>T)
c.1938-3C>T (n.1938-3C>T)
c.1896-3C>T (n.1896-3C>T)
c.423-3C>T (n.423-3C>T)
c.1998-3C>T (n.1998-3C>T)
c.1977-3C>T (n.1977-3C>T)
c.1782-3C>T (n.1782-3C>T)
c.1839-3C>T (n.1839-3C>T)
n.2033-3C>T
n.1940-3C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.81974555G=CA1139532134CACNA2D1c.1992-3C= (n.1992-3C=)
c.1723-3C=
c.1836-3C= (n.1836-3C=)
c.1956-3C= (n.1956-3C=)
c.488-3C=
c.1941-3C= (n.1941-3C=)
c.1935-3C= (n.1935-3C=)
c.1920-3C= (n.1920-3C=)
c.2013-3C= (n.2013-3C=)
c.1938-3C= (n.1938-3C=)
c.1896-3C= (n.1896-3C=)
c.423-3C= (n.423-3C=)
c.1998-3C= (n.1998-3C=)
c.1977-3C= (n.1977-3C=)
c.1782-3C= (n.1782-3C=)
c.1839-3C= (n.1839-3C=)
n.2033-3C=
n.1940-3C=
7g.81974555G>TCA2683539921CACNA2D1c.1992-3C>A (n.1992-3C>A)
c.1723-3C>A
c.1836-3C>A (n.1836-3C>A)
c.1956-3C>A (n.1956-3C>A)
c.488-3C>A
c.1941-3C>A (n.1941-3C>A)
c.1935-3C>A (n.1935-3C>A)
c.1920-3C>A (n.1920-3C>A)
c.2013-3C>A (n.2013-3C>A)
c.1938-3C>A (n.1938-3C>A)
c.1896-3C>A (n.1896-3C>A)
c.423-3C>A (n.423-3C>A)
c.1998-3C>A (n.1998-3C>A)
c.1977-3C>A (n.1977-3C>A)
c.1782-3C>A (n.1782-3C>A)
c.1839-3C>A (n.1839-3C>A)
n.2033-3C>A
n.1940-3C>A
 gnomAD v4
7g.81974555_81974556delinsGACA1720999390CACNA2D1c.1992-4_1992-3delinsTC (n.1992-4_1992-3delinsTC)
c.1723-4_1723-3delinsTC
c.1836-4_1836-3delinsTC (n.1836-4_1836-3delinsTC)
c.1956-4_1956-3delinsTC (n.1956-4_1956-3delinsTC)
c.488-4_488-3delinsTC
c.1941-4_1941-3delinsTC (n.1941-4_1941-3delinsTC)
c.1935-4_1935-3delinsTC (n.1935-4_1935-3delinsTC)
c.1920-4_1920-3delinsTC (n.1920-4_1920-3delinsTC)
c.2013-4_2013-3delinsTC (n.2013-4_2013-3delinsTC)
c.1938-4_1938-3delinsTC (n.1938-4_1938-3delinsTC)
c.1896-4_1896-3delinsTC (n.1896-4_1896-3delinsTC)
c.423-4_423-3delinsTC (n.423-4_423-3delinsTC)
c.1998-4_1998-3delinsTC (n.1998-4_1998-3delinsTC)
c.1977-4_1977-3delinsTC (n.1977-4_1977-3delinsTC)
c.1782-4_1782-3delinsTC (n.1782-4_1782-3delinsTC)
c.1839-4_1839-3delinsTC (n.1839-4_1839-3delinsTC)
n.2033-4_2033-3delinsTC
n.1940-4_1940-3delinsTC
7g.81974555_81974556insGACA2683539928CACNA2D1c.1992-4_1992-3insTC (n.1992-4_1992-3insTC)
c.1723-4_1723-3insTC
c.1836-4_1836-3insTC (n.1836-4_1836-3insTC)
c.1956-4_1956-3insTC (n.1956-4_1956-3insTC)
c.488-4_488-3insTC
c.1941-4_1941-3insTC (n.1941-4_1941-3insTC)
c.1935-4_1935-3insTC (n.1935-4_1935-3insTC)
c.1920-4_1920-3insTC (n.1920-4_1920-3insTC)
c.2013-4_2013-3insTC (n.2013-4_2013-3insTC)
c.1938-4_1938-3insTC (n.1938-4_1938-3insTC)
c.1896-4_1896-3insTC (n.1896-4_1896-3insTC)
c.423-4_423-3insTC (n.423-4_423-3insTC)
c.1998-4_1998-3insTC (n.1998-4_1998-3insTC)
c.1977-4_1977-3insTC (n.1977-4_1977-3insTC)
c.1782-4_1782-3insTC (n.1782-4_1782-3insTC)
c.1839-4_1839-3insTC (n.1839-4_1839-3insTC)
n.2033-4_2033-3insTC
n.1940-4_1940-3insTC
 gnomAD v4
7g.81974556A=CA1720999410CACNA2D1c.1992-4T= (n.1992-4T=)
c.1723-4T=
c.1836-4T= (n.1836-4T=)
c.1956-4T= (n.1956-4T=)
c.488-4T=
c.1941-4T= (n.1941-4T=)
c.1935-4T= (n.1935-4T=)
c.1920-4T= (n.1920-4T=)
c.2013-4T= (n.2013-4T=)
c.1938-4T= (n.1938-4T=)
c.1896-4T= (n.1896-4T=)
c.423-4T= (n.423-4T=)
c.1998-4T= (n.1998-4T=)
c.1977-4T= (n.1977-4T=)
c.1782-4T= (n.1782-4T=)
c.1839-4T= (n.1839-4T=)
n.2033-4T=
n.1940-4T=
7g.81974556A>GCA4317796CACNA2D1c.1992-4T>C (n.1992-4T>C)
c.1723-4T>C
c.1836-4T>C (n.1836-4T>C)
c.1956-4T>C (n.1956-4T>C)
c.488-4T>C
c.1941-4T>C (n.1941-4T>C)
c.1935-4T>C (n.1935-4T>C)
c.1920-4T>C (n.1920-4T>C)
c.2013-4T>C (n.2013-4T>C)
c.1938-4T>C (n.1938-4T>C)
c.1896-4T>C (n.1896-4T>C)
c.423-4T>C (n.423-4T>C)
c.1998-4T>C (n.1998-4T>C)
c.1977-4T>C (n.1977-4T>C)
c.1782-4T>C (n.1782-4T>C)
c.1839-4T>C (n.1839-4T>C)
n.2033-4T>C
n.1940-4T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.81974564dupCA4317793CACNA2D1c.1992-4dup (n.1992-4dup)
c.1723-4dup
c.1836-4dup (n.1836-4dup)
c.1956-4dup (n.1956-4dup)
c.488-4dup
c.1941-4dup (n.1941-4dup)
c.1935-4dup (n.1935-4dup)
c.1920-4dup (n.1920-4dup)
c.2013-4dup (n.2013-4dup)
c.1938-4dup (n.1938-4dup)
c.1896-4dup (n.1896-4dup)
c.423-4dup (n.423-4dup)
c.1998-4dup (n.1998-4dup)
c.1977-4dup (n.1977-4dup)
c.1782-4dup (n.1782-4dup)
c.1839-4dup (n.1839-4dup)
n.2033-4dup
n.1940-4dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.81974563_81974564dupCA249170CACNA2D1c.1992-5_1992-4dup (n.1992-5_1992-4dup)
c.1723-5_1723-4dup
c.1836-5_1836-4dup (n.1836-5_1836-4dup)
c.1956-5_1956-4dup (n.1956-5_1956-4dup)
c.488-5_488-4dup
c.1941-5_1941-4dup (n.1941-5_1941-4dup)
c.1935-5_1935-4dup (n.1935-5_1935-4dup)
c.1920-5_1920-4dup (n.1920-5_1920-4dup)
c.2013-5_2013-4dup (n.2013-5_2013-4dup)
c.1938-5_1938-4dup (n.1938-5_1938-4dup)
c.1896-5_1896-4dup (n.1896-5_1896-4dup)
c.423-5_423-4dup (n.423-5_423-4dup)
c.1998-5_1998-4dup (n.1998-5_1998-4dup)
c.1977-5_1977-4dup (n.1977-5_1977-4dup)
c.1782-5_1782-4dup (n.1782-5_1782-4dup)
c.1839-5_1839-4dup (n.1839-5_1839-4dup)
n.2033-5_2033-4dup
n.1940-5_1940-4dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.81974562_81974564dupCA4317792CACNA2D1c.1992-6_1992-4dup (n.1992-6_1992-4dup)
c.1723-6_1723-4dup
c.1836-6_1836-4dup (n.1836-6_1836-4dup)
c.1956-6_1956-4dup (n.1956-6_1956-4dup)
c.488-6_488-4dup
c.1941-6_1941-4dup (n.1941-6_1941-4dup)
c.1935-6_1935-4dup (n.1935-6_1935-4dup)
c.1920-6_1920-4dup (n.1920-6_1920-4dup)
c.2013-6_2013-4dup (n.2013-6_2013-4dup)
c.1938-6_1938-4dup (n.1938-6_1938-4dup)
c.1896-6_1896-4dup (n.1896-6_1896-4dup)
c.423-6_423-4dup (n.423-6_423-4dup)
c.1998-6_1998-4dup (n.1998-6_1998-4dup)
c.1977-6_1977-4dup (n.1977-6_1977-4dup)
c.1782-6_1782-4dup (n.1782-6_1782-4dup)
c.1839-6_1839-4dup (n.1839-6_1839-4dup)
n.2033-6_2033-4dup
n.1940-6_1940-4dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.81974561_81974564dupCA4317794CACNA2D1c.1992-7_1992-4dup (n.1992-7_1992-4dup)
c.1723-7_1723-4dup
c.1836-7_1836-4dup (n.1836-7_1836-4dup)
c.1956-7_1956-4dup (n.1956-7_1956-4dup)
c.488-7_488-4dup
c.1941-7_1941-4dup (n.1941-7_1941-4dup)
c.1935-7_1935-4dup (n.1935-7_1935-4dup)
c.1920-7_1920-4dup (n.1920-7_1920-4dup)
c.2013-7_2013-4dup (n.2013-7_2013-4dup)
c.1938-7_1938-4dup (n.1938-7_1938-4dup)
c.1896-7_1896-4dup (n.1896-7_1896-4dup)
c.423-7_423-4dup (n.423-7_423-4dup)
c.1998-7_1998-4dup (n.1998-7_1998-4dup)
c.1977-7_1977-4dup (n.1977-7_1977-4dup)
c.1782-7_1782-4dup (n.1782-7_1782-4dup)
c.1839-7_1839-4dup (n.1839-7_1839-4dup)
n.2033-7_2033-4dup
n.1940-7_1940-4dup
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.81974560_81974564dupCA2683539930CACNA2D1c.1992-8_1992-4dup (n.1992-8_1992-4dup)
c.1723-8_1723-4dup
c.1836-8_1836-4dup (n.1836-8_1836-4dup)
c.1956-8_1956-4dup (n.1956-8_1956-4dup)
c.488-8_488-4dup
c.1941-8_1941-4dup (n.1941-8_1941-4dup)
c.1935-8_1935-4dup (n.1935-8_1935-4dup)
c.1920-8_1920-4dup (n.1920-8_1920-4dup)
c.2013-8_2013-4dup (n.2013-8_2013-4dup)
c.1938-8_1938-4dup (n.1938-8_1938-4dup)
c.1896-8_1896-4dup (n.1896-8_1896-4dup)
c.423-8_423-4dup (n.423-8_423-4dup)
c.1998-8_1998-4dup (n.1998-8_1998-4dup)
c.1977-8_1977-4dup (n.1977-8_1977-4dup)
c.1782-8_1782-4dup (n.1782-8_1782-4dup)
c.1839-8_1839-4dup (n.1839-8_1839-4dup)
n.2033-8_2033-4dup
n.1940-8_1940-4dup
 gnomAD v4
7g.81974564delCA4317795CACNA2D1c.1992-4del (n.1992-4del)
c.1723-4del
c.1836-4del (n.1836-4del)
c.1956-4del (n.1956-4del)
c.488-4del
c.1941-4del (n.1941-4del)
c.1935-4del (n.1935-4del)
c.1920-4del (n.1920-4del)
c.2013-4del (n.2013-4del)
c.1938-4del (n.1938-4del)
c.1896-4del (n.1896-4del)
c.423-4del (n.423-4del)
c.1998-4del (n.1998-4del)
c.1977-4del (n.1977-4del)
c.1782-4del (n.1782-4del)
c.1839-4del (n.1839-4del)
n.2033-4del
n.1940-4del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.81974563_81974564delCA2683539927CACNA2D1c.1992-5_1992-4del (n.1992-5_1992-4del)
c.1723-5_1723-4del
c.1836-5_1836-4del (n.1836-5_1836-4del)
c.1956-5_1956-4del (n.1956-5_1956-4del)
c.488-5_488-4del
c.1941-5_1941-4del (n.1941-5_1941-4del)
c.1935-5_1935-4del (n.1935-5_1935-4del)
c.1920-5_1920-4del (n.1920-5_1920-4del)
c.2013-5_2013-4del (n.2013-5_2013-4del)
c.1938-5_1938-4del (n.1938-5_1938-4del)
c.1896-5_1896-4del (n.1896-5_1896-4del)
c.423-5_423-4del (n.423-5_423-4del)
c.1998-5_1998-4del (n.1998-5_1998-4del)
c.1977-5_1977-4del (n.1977-5_1977-4del)
c.1782-5_1782-4del (n.1782-5_1782-4del)
c.1839-5_1839-4del (n.1839-5_1839-4del)
n.2033-5_2033-4del
n.1940-5_1940-4del
 dbSNP gnomAD v4
7g.81974561_81974564delCA2714988875CACNA2D1c.1992-7_1992-4del (n.1992-7_1992-4del)
c.1723-7_1723-4del
c.1836-7_1836-4del (n.1836-7_1836-4del)
c.1956-7_1956-4del (n.1956-7_1956-4del)
c.488-7_488-4del
c.1941-7_1941-4del (n.1941-7_1941-4del)
c.1935-7_1935-4del (n.1935-7_1935-4del)
c.1920-7_1920-4del (n.1920-7_1920-4del)
c.2013-7_2013-4del (n.2013-7_2013-4del)
c.1938-7_1938-4del (n.1938-7_1938-4del)
c.1896-7_1896-4del (n.1896-7_1896-4del)
c.423-7_423-4del (n.423-7_423-4del)
c.1998-7_1998-4del (n.1998-7_1998-4del)
c.1977-7_1977-4del (n.1977-7_1977-4del)
c.1782-7_1782-4del (n.1782-7_1782-4del)
c.1839-7_1839-4del (n.1839-7_1839-4del)
n.2033-7_2033-4del
n.1940-7_1940-4del
 dbSNP
7g.81974557A=CA1720999413CACNA2D1c.1992-5T= (n.1992-5T=)
c.1723-5T=
c.1836-5T= (n.1836-5T=)
c.1956-5T= (n.1956-5T=)
c.488-5T=
c.1941-5T= (n.1941-5T=)
c.1935-5T= (n.1935-5T=)
c.1920-5T= (n.1920-5T=)
c.2013-5T= (n.2013-5T=)
c.1938-5T= (n.1938-5T=)
c.1896-5T= (n.1896-5T=)
c.423-5T= (n.423-5T=)
c.1998-5T= (n.1998-5T=)
c.1977-5T= (n.1977-5T=)
c.1782-5T= (n.1782-5T=)
c.1839-5T= (n.1839-5T=)
n.2033-5T=
n.1940-5T=
7g.81974557A>CCA2683539934CACNA2D1c.1992-5T>G (n.1992-5T>G)
c.1723-5T>G
c.1836-5T>G (n.1836-5T>G)
c.1956-5T>G (n.1956-5T>G)
c.488-5T>G
c.1941-5T>G (n.1941-5T>G)
c.1935-5T>G (n.1935-5T>G)
c.1920-5T>G (n.1920-5T>G)
c.2013-5T>G (n.2013-5T>G)
c.1938-5T>G (n.1938-5T>G)
c.1896-5T>G (n.1896-5T>G)
c.423-5T>G (n.423-5T>G)
c.1998-5T>G (n.1998-5T>G)
c.1977-5T>G (n.1977-5T>G)
c.1782-5T>G (n.1782-5T>G)
c.1839-5T>G (n.1839-5T>G)
n.2033-5T>G
n.1940-5T>G
 gnomAD v4
7g.81974557A>GCA2683539935CACNA2D1c.1992-5T>C (n.1992-5T>C)
c.1723-5T>C
c.1836-5T>C (n.1836-5T>C)
c.1956-5T>C (n.1956-5T>C)
c.488-5T>C
c.1941-5T>C (n.1941-5T>C)
c.1935-5T>C (n.1935-5T>C)
c.1920-5T>C (n.1920-5T>C)
c.2013-5T>C (n.2013-5T>C)
c.1938-5T>C (n.1938-5T>C)
c.1896-5T>C (n.1896-5T>C)
c.423-5T>C (n.423-5T>C)
c.1998-5T>C (n.1998-5T>C)
c.1977-5T>C (n.1977-5T>C)
c.1782-5T>C (n.1782-5T>C)
c.1839-5T>C (n.1839-5T>C)
n.2033-5T>C
n.1940-5T>C
 gnomAD v4
7g.81974558_81974559insGACA1103737947CACNA2D1c.1992-6_1992-5insCT (n.1992-6_1992-5insCT)
c.1723-6_1723-5insCT
c.1836-6_1836-5insCT (n.1836-6_1836-5insCT)
c.1956-6_1956-5insCT (n.1956-6_1956-5insCT)
c.488-6_488-5insCT
c.1941-6_1941-5insCT (n.1941-6_1941-5insCT)
c.1935-6_1935-5insCT (n.1935-6_1935-5insCT)
c.1920-6_1920-5insCT (n.1920-6_1920-5insCT)
c.2013-6_2013-5insCT (n.2013-6_2013-5insCT)
c.1938-6_1938-5insCT (n.1938-6_1938-5insCT)
c.1896-6_1896-5insCT (n.1896-6_1896-5insCT)
c.423-6_423-5insCT (n.423-6_423-5insCT)
c.1998-6_1998-5insCT (n.1998-6_1998-5insCT)
c.1977-6_1977-5insCT (n.1977-6_1977-5insCT)
c.1782-6_1782-5insCT (n.1782-6_1782-5insCT)
c.1839-6_1839-5insCT (n.1839-6_1839-5insCT)
n.2033-6_2033-5insCT
n.1940-6_1940-5insCT
 dbSNP gnomAD v3 gnomAD v4
7g.81974561A=CA1720999415CACNA2D1c.1992-9T= (n.1992-9T=)
c.1723-9T=
c.1836-9T= (n.1836-9T=)
c.1956-9T= (n.1956-9T=)
c.488-9T=
c.1941-9T= (n.1941-9T=)
c.1935-9T= (n.1935-9T=)
c.1920-9T= (n.1920-9T=)
c.2013-9T= (n.2013-9T=)
c.1938-9T= (n.1938-9T=)
c.1896-9T= (n.1896-9T=)
c.423-9T= (n.423-9T=)
c.1998-9T= (n.1998-9T=)
c.1977-9T= (n.1977-9T=)
c.1782-9T= (n.1782-9T=)
c.1839-9T= (n.1839-9T=)
n.2033-9T=
n.1940-9T=
7g.81974561A>CCA4317797CACNA2D1c.1992-9T>G (n.1992-9T>G)
c.1723-9T>G
c.1836-9T>G (n.1836-9T>G)
c.1956-9T>G (n.1956-9T>G)
c.488-9T>G
c.1941-9T>G (n.1941-9T>G)
c.1935-9T>G (n.1935-9T>G)
c.1920-9T>G (n.1920-9T>G)
c.2013-9T>G (n.2013-9T>G)
c.1938-9T>G (n.1938-9T>G)
c.1896-9T>G (n.1896-9T>G)
c.423-9T>G (n.423-9T>G)
c.1998-9T>G (n.1998-9T>G)
c.1977-9T>G (n.1977-9T>G)
c.1782-9T>G (n.1782-9T>G)
c.1839-9T>G (n.1839-9T>G)
n.2033-9T>G
n.1940-9T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.81974561A>GCA2683539936CACNA2D1c.1992-9T>C (n.1992-9T>C)
c.1723-9T>C
c.1836-9T>C (n.1836-9T>C)
c.1956-9T>C (n.1956-9T>C)
c.488-9T>C
c.1941-9T>C (n.1941-9T>C)
c.1935-9T>C (n.1935-9T>C)
c.1920-9T>C (n.1920-9T>C)
c.2013-9T>C (n.2013-9T>C)
c.1938-9T>C (n.1938-9T>C)
c.1896-9T>C (n.1896-9T>C)
c.423-9T>C (n.423-9T>C)
c.1998-9T>C (n.1998-9T>C)
c.1977-9T>C (n.1977-9T>C)
c.1782-9T>C (n.1782-9T>C)
c.1839-9T>C (n.1839-9T>C)
n.2033-9T>C
n.1940-9T>C
 gnomAD v4
7g.81974561_81974562insCCCA2776700040CACNA2D1c.1992-10_1992-9insGG (n.1992-10_1992-9insGG)
c.1723-10_1723-9insGG
c.1836-10_1836-9insGG (n.1836-10_1836-9insGG)
c.1956-10_1956-9insGG (n.1956-10_1956-9insGG)
c.488-10_488-9insGG
c.1941-10_1941-9insGG (n.1941-10_1941-9insGG)
c.1935-10_1935-9insGG (n.1935-10_1935-9insGG)
c.1920-10_1920-9insGG (n.1920-10_1920-9insGG)
c.2013-10_2013-9insGG (n.2013-10_2013-9insGG)
c.1938-10_1938-9insGG (n.1938-10_1938-9insGG)
c.1896-10_1896-9insGG (n.1896-10_1896-9insGG)
c.423-10_423-9insGG (n.423-10_423-9insGG)
c.1998-10_1998-9insGG (n.1998-10_1998-9insGG)
c.1977-10_1977-9insGG (n.1977-10_1977-9insGG)
c.1782-10_1782-9insGG (n.1782-10_1782-9insGG)
c.1839-10_1839-9insGG (n.1839-10_1839-9insGG)
n.2033-10_2033-9insGG
n.1940-10_1940-9insGG
7g.81974564A=CA1720999417CACNA2D1c.1992-12T= (n.1992-12T=)
c.1723-12T=
c.1836-12T= (n.1836-12T=)
c.1956-12T= (n.1956-12T=)
c.488-12T=
c.1941-12T= (n.1941-12T=)
c.1935-12T= (n.1935-12T=)
c.1920-12T= (n.1920-12T=)
c.2013-12T= (n.2013-12T=)
c.1938-12T= (n.1938-12T=)
c.1896-12T= (n.1896-12T=)
c.423-12T= (n.423-12T=)
c.1998-12T= (n.1998-12T=)
c.1977-12T= (n.1977-12T=)
c.1782-12T= (n.1782-12T=)
c.1839-12T= (n.1839-12T=)
n.2033-12T=
n.1940-12T=
7g.81974564A>CCA4317798CACNA2D1c.1992-12T>G (n.1992-12T>G)
c.1723-12T>G
c.1836-12T>G (n.1836-12T>G)
c.1956-12T>G (n.1956-12T>G)
c.488-12T>G
c.1941-12T>G (n.1941-12T>G)
c.1935-12T>G (n.1935-12T>G)
c.1920-12T>G (n.1920-12T>G)
c.2013-12T>G (n.2013-12T>G)
c.1938-12T>G (n.1938-12T>G)
c.1896-12T>G (n.1896-12T>G)
c.423-12T>G (n.423-12T>G)
c.1998-12T>G (n.1998-12T>G)
c.1977-12T>G (n.1977-12T>G)
c.1782-12T>G (n.1782-12T>G)
c.1839-12T>G (n.1839-12T>G)
n.2033-12T>G
n.1940-12T>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.81974564A>GCA2683539937CACNA2D1c.1992-12T>C (n.1992-12T>C)
c.1723-12T>C
c.1836-12T>C (n.1836-12T>C)
c.1956-12T>C (n.1956-12T>C)
c.488-12T>C
c.1941-12T>C (n.1941-12T>C)
c.1935-12T>C (n.1935-12T>C)
c.1920-12T>C (n.1920-12T>C)
c.2013-12T>C (n.2013-12T>C)
c.1938-12T>C (n.1938-12T>C)
c.1896-12T>C (n.1896-12T>C)
c.423-12T>C (n.423-12T>C)
c.1998-12T>C (n.1998-12T>C)
c.1977-12T>C (n.1977-12T>C)
c.1782-12T>C (n.1782-12T>C)
c.1839-12T>C (n.1839-12T>C)
n.2033-12T>C
n.1940-12T>C
 gnomAD v4
7g.81974564_81974565delinsACCA1720999420CACNA2D1c.1992-13_1992-12delinsGT (n.1992-13_1992-12delinsGT)
c.1723-13_1723-12delinsGT
c.1836-13_1836-12delinsGT (n.1836-13_1836-12delinsGT)
c.1956-13_1956-12delinsGT (n.1956-13_1956-12delinsGT)
c.488-13_488-12delinsGT
c.1941-13_1941-12delinsGT (n.1941-13_1941-12delinsGT)
c.1935-13_1935-12delinsGT (n.1935-13_1935-12delinsGT)
c.1920-13_1920-12delinsGT (n.1920-13_1920-12delinsGT)
c.2013-13_2013-12delinsGT (n.2013-13_2013-12delinsGT)
c.1938-13_1938-12delinsGT (n.1938-13_1938-12delinsGT)
c.1896-13_1896-12delinsGT (n.1896-13_1896-12delinsGT)
c.423-13_423-12delinsGT (n.423-13_423-12delinsGT)
c.1998-13_1998-12delinsGT (n.1998-13_1998-12delinsGT)
c.1977-13_1977-12delinsGT (n.1977-13_1977-12delinsGT)
c.1782-13_1782-12delinsGT (n.1782-13_1782-12delinsGT)
c.1839-13_1839-12delinsGT (n.1839-13_1839-12delinsGT)
n.2033-13_2033-12delinsGT
n.1940-13_1940-12delinsGT

Number of alleles fetched