| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.2566466G>A | CA16042880 | CACNA1C | c.972G>A (n.972G>A) c.1628G>A (p.Arg543His) c.1553G>A (p.Arg518His) c.45G>A c.560G>A (p.Arg187His) c.1643G>A (p.Arg548His) c.1544G>A (p.Arg515His) c.1718G>A (p.Arg573His) c.*160G>A (n.*160G>A) c.*1173G>A (n.*1173G>A) n.553G>A c.1076G>A (p.Arg359His) c.713G>A (p.Arg238His) c.158G>A (p.Arg53His) c.1916G>A (p.Arg639His) c.1721G>A (p.Arg574His) c.1796G>A (p.Arg599His) c.1712G>A (p.Arg571His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 12 | g.2566466G>C | CA383368479 | CACNA1C | c.972G>C (n.972G>C) c.1628G>C (p.Arg543Pro) c.1553G>C (p.Arg518Pro) c.45G>C c.560G>C (p.Arg187Pro) c.1643G>C (p.Arg548Pro) c.1544G>C (p.Arg515Pro) c.1718G>C (p.Arg573Pro) c.*160G>C (n.*160G>C) c.*1173G>C (n.*1173G>C) n.553G>C c.1076G>C (p.Arg359Pro) c.713G>C (p.Arg238Pro) c.158G>C (p.Arg53Pro) c.1916G>C (p.Arg639Pro) c.1721G>C (p.Arg574Pro) c.1796G>C (p.Arg599Pro) c.1712G>C (p.Arg571Pro) | |
| 12 | g.2566466G>T | CA383368480 | CACNA1C | c.972G>T (n.972G>T) c.1628G>T (p.Arg543Leu) c.1553G>T (p.Arg518Leu) c.45G>T c.560G>T (p.Arg187Leu) c.1643G>T (p.Arg548Leu) c.1544G>T (p.Arg515Leu) c.1718G>T (p.Arg573Leu) c.*160G>T (n.*160G>T) c.*1173G>T (n.*1173G>T) n.553G>T c.1076G>T (p.Arg359Leu) c.713G>T (p.Arg238Leu) c.158G>T (p.Arg53Leu) c.1916G>T (p.Arg639Leu) c.1721G>T (p.Arg574Leu) c.1796G>T (p.Arg599Leu) c.1712G>T (p.Arg571Leu) | |
| 12 | g.2566467C>A | CA477884504 | CACNA1C | c.973C>A (n.973C>A) c.1629C>A (p.Arg543=) c.1554C>A (p.Arg518=) c.46C>A c.561C>A (p.Arg187=) c.1644C>A (p.Arg548=) c.1545C>A (p.Arg515=) c.1719C>A (p.Arg573=) c.*161C>A (n.*161C>A) c.*1174C>A (n.*1174C>A) n.554C>A c.1077C>A (p.Arg359=) c.714C>A (p.Arg238=) c.159C>A (p.Arg53=) c.1917C>A (p.Arg639=) c.1722C>A (p.Arg574=) c.1797C>A (p.Arg599=) c.1713C>A (p.Arg571=) | gnomAD v4 |
| 12 | g.2566467C>G | CA477884503 | CACNA1C | c.973C>G (n.973C>G) c.1629C>G (p.Arg543=) c.1554C>G (p.Arg518=) c.46C>G c.561C>G (p.Arg187=) c.1644C>G (p.Arg548=) c.1545C>G (p.Arg515=) c.1719C>G (p.Arg573=) c.*161C>G (n.*161C>G) c.*1174C>G (n.*1174C>G) n.554C>G c.1077C>G (p.Arg359=) c.714C>G (p.Arg238=) c.159C>G (p.Arg53=) c.1917C>G (p.Arg639=) c.1722C>G (p.Arg574=) c.1797C>G (p.Arg599=) c.1713C>G (p.Arg571=) | |
| 12 | g.2566467C>T | CA221254 | CACNA1C | c.973C>T (n.973C>T) c.1629C>T (p.Arg543=) c.1554C>T (p.Arg518=) c.46C>T c.561C>T (p.Arg187=) c.1644C>T (p.Arg548=) c.1545C>T (p.Arg515=) c.1719C>T (p.Arg573=) c.*161C>T (n.*161C>T) c.*1174C>T (n.*1174C>T) n.554C>T c.1077C>T (p.Arg359=) c.714C>T (p.Arg238=) c.159C>T (p.Arg53=) c.1917C>T (p.Arg639=) c.1722C>T (p.Arg574=) c.1797C>T (p.Arg599=) c.1713C>T (p.Arg571=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 12 | g.2566468G>A | CA6388813 | CACNA1C | c.974G>A (n.974G>A) c.1630G>A (p.Ala544Thr) c.1555G>A (p.Ala519Thr) c.47G>A c.562G>A (p.Ala188Thr) c.1645G>A (p.Ala549Thr) c.1546G>A (p.Ala516Thr) c.1720G>A (p.Ala574Thr) c.*162G>A (n.*162G>A) c.*1175G>A (n.*1175G>A) n.555G>A c.1078G>A (p.Ala360Thr) c.715G>A (p.Ala239Thr) c.160G>A (p.Ala54Thr) c.1918G>A (p.Ala640Thr) c.1723G>A (p.Ala575Thr) c.1798G>A (p.Ala600Thr) c.1714G>A (p.Ala572Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.2566468G>C | CA383368481 | CACNA1C | c.974G>C (n.974G>C) c.1630G>C (p.Ala544Pro) c.1555G>C (p.Ala519Pro) c.47G>C c.562G>C (p.Ala188Pro) c.1645G>C (p.Ala549Pro) c.1546G>C (p.Ala516Pro) c.1720G>C (p.Ala574Pro) c.*162G>C (n.*162G>C) c.*1175G>C (n.*1175G>C) n.555G>C c.1078G>C (p.Ala360Pro) c.715G>C (p.Ala239Pro) c.160G>C (p.Ala54Pro) c.1918G>C (p.Ala640Pro) c.1723G>C (p.Ala575Pro) c.1798G>C (p.Ala600Pro) c.1714G>C (p.Ala572Pro) | |
| 12 | g.2566468G>T | CA383368482 | CACNA1C | c.974G>T (n.974G>T) c.1630G>T (p.Ala544Ser) c.1555G>T (p.Ala519Ser) c.47G>T c.562G>T (p.Ala188Ser) c.1645G>T (p.Ala549Ser) c.1546G>T (p.Ala516Ser) c.1720G>T (p.Ala574Ser) c.*162G>T (n.*162G>T) c.*1175G>T (n.*1175G>T) n.555G>T c.1078G>T (p.Ala360Ser) c.715G>T (p.Ala239Ser) c.160G>T (p.Ala54Ser) c.1918G>T (p.Ala640Ser) c.1723G>T (p.Ala575Ser) c.1798G>T (p.Ala600Ser) c.1714G>T (p.Ala572Ser) | gnomAD v4 |
| 12 | g.2566469C>A | CA383368483 | CACNA1C | c.975C>A (n.975C>A) c.1631C>A (p.Ala544Asp) c.1556C>A (p.Ala519Asp) c.48C>A c.563C>A (p.Ala188Asp) c.1646C>A (p.Ala549Asp) c.1547C>A (p.Ala516Asp) c.1721C>A (p.Ala574Asp) c.*163C>A (n.*163C>A) c.*1176C>A (n.*1176C>A) n.556C>A c.1079C>A (p.Ala360Asp) c.716C>A (p.Ala239Asp) c.161C>A (p.Ala54Asp) c.1919C>A (p.Ala640Asp) c.1724C>A (p.Ala575Asp) c.1799C>A (p.Ala600Asp) c.1715C>A (p.Ala572Asp) | |
| 12 | g.2566469C>G | CA383368484 | CACNA1C | c.975C>G (n.975C>G) c.1631C>G (p.Ala544Gly) c.1556C>G (p.Ala519Gly) c.48C>G c.563C>G (p.Ala188Gly) c.1646C>G (p.Ala549Gly) c.1547C>G (p.Ala516Gly) c.1721C>G (p.Ala574Gly) c.*163C>G (n.*163C>G) c.*1176C>G (n.*1176C>G) n.556C>G c.1079C>G (p.Ala360Gly) c.716C>G (p.Ala239Gly) c.161C>G (p.Ala54Gly) c.1919C>G (p.Ala640Gly) c.1724C>G (p.Ala575Gly) c.1799C>G (p.Ala600Gly) c.1715C>G (p.Ala572Gly) | gnomAD v4 |
| 12 | g.2566469C>T | CA383368485 | CACNA1C | c.975C>T (n.975C>T) c.1631C>T (p.Ala544Val) c.1556C>T (p.Ala519Val) c.48C>T c.563C>T (p.Ala188Val) c.1646C>T (p.Ala549Val) c.1547C>T (p.Ala516Val) c.1721C>T (p.Ala574Val) c.*163C>T (n.*163C>T) c.*1176C>T (n.*1176C>T) n.556C>T c.1079C>T (p.Ala360Val) c.716C>T (p.Ala239Val) c.161C>T (p.Ala54Val) c.1919C>T (p.Ala640Val) c.1724C>T (p.Ala575Val) c.1799C>T (p.Ala600Val) c.1715C>T (p.Ala572Val) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.2566470C>A | CA6388814 | CACNA1C | c.976C>A (n.976C>A) c.1632C>A (p.Ala544=) c.1557C>A (p.Ala519=) c.49C>A c.564C>A (p.Ala188=) c.1647C>A (p.Ala549=) c.1548C>A (p.Ala516=) c.1722C>A (p.Ala574=) c.*164C>A (n.*164C>A) c.*1177C>A (n.*1177C>A) n.557C>A c.1080C>A (p.Ala360=) c.717C>A (p.Ala239=) c.162C>A (p.Ala54=) c.1920C>A (p.Ala640=) c.1725C>A (p.Ala575=) c.1800C>A (p.Ala600=) c.1716C>A (p.Ala572=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.2566470C>G | CA477884506 | CACNA1C | c.976C>G (n.976C>G) c.1632C>G (p.Ala544=) c.1557C>G (p.Ala519=) c.49C>G c.564C>G (p.Ala188=) c.1647C>G (p.Ala549=) c.1548C>G (p.Ala516=) c.1722C>G (p.Ala574=) c.*164C>G (n.*164C>G) c.*1177C>G (n.*1177C>G) n.557C>G c.1080C>G (p.Ala360=) c.717C>G (p.Ala239=) c.162C>G (p.Ala54=) c.1920C>G (p.Ala640=) c.1725C>G (p.Ala575=) c.1800C>G (p.Ala600=) c.1716C>G (p.Ala572=) | |
| 12 | g.2566470C>T | CA6388815 | CACNA1C | c.976C>T (n.976C>T) c.1632C>T (p.Ala544=) c.1557C>T (p.Ala519=) c.49C>T c.564C>T (p.Ala188=) c.1647C>T (p.Ala549=) c.1548C>T (p.Ala516=) c.1722C>T (p.Ala574=) c.*164C>T (n.*164C>T) c.*1177C>T (n.*1177C>T) n.557C>T c.1080C>T (p.Ala360=) c.717C>T (p.Ala239=) c.162C>T (p.Ala54=) c.1920C>T (p.Ala640=) c.1725C>T (p.Ala575=) c.1800C>T (p.Ala600=) c.1716C>T (p.Ala572=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.2566471G>A | CA6388816 | CACNA1C | c.977G>A (n.977G>A) c.1633G>A (p.Ala545Thr) c.1558G>A (p.Ala520Thr) c.50G>A c.565G>A (p.Ala189Thr) c.1648G>A (p.Ala550Thr) c.1549G>A (p.Ala517Thr) c.1723G>A (p.Ala575Thr) c.*165G>A (n.*165G>A) c.*1178G>A (n.*1178G>A) n.558G>A c.1081G>A (p.Ala361Thr) c.718G>A (p.Ala240Thr) c.163G>A (p.Ala55Thr) c.1921G>A (p.Ala641Thr) c.1726G>A (p.Ala576Thr) c.1801G>A (p.Ala601Thr) c.1717G>A (p.Ala573Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.2566471G>C | CA383368487 | CACNA1C | c.977G>C (n.977G>C) c.1633G>C (p.Ala545Pro) c.1558G>C (p.Ala520Pro) c.50G>C c.565G>C (p.Ala189Pro) c.1648G>C (p.Ala550Pro) c.1549G>C (p.Ala517Pro) c.1723G>C (p.Ala575Pro) c.*165G>C (n.*165G>C) c.*1178G>C (n.*1178G>C) n.558G>C c.1081G>C (p.Ala361Pro) c.718G>C (p.Ala240Pro) c.163G>C (p.Ala55Pro) c.1921G>C (p.Ala641Pro) c.1726G>C (p.Ala576Pro) c.1801G>C (p.Ala601Pro) c.1717G>C (p.Ala573Pro) | |
| 12 | g.2566471G>T | CA383368486 | CACNA1C | c.977G>T (n.977G>T) c.1633G>T (p.Ala545Ser) c.1558G>T (p.Ala520Ser) c.50G>T c.565G>T (p.Ala189Ser) c.1648G>T (p.Ala550Ser) c.1549G>T (p.Ala517Ser) c.1723G>T (p.Ala575Ser) c.*165G>T (n.*165G>T) c.*1178G>T (n.*1178G>T) n.558G>T c.1081G>T (p.Ala361Ser) c.718G>T (p.Ala240Ser) c.163G>T (p.Ala55Ser) c.1921G>T (p.Ala641Ser) c.1726G>T (p.Ala576Ser) c.1801G>T (p.Ala601Ser) c.1717G>T (p.Ala573Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.2566472C>A | CA383368490 | CACNA1C | c.978C>A (n.978C>A) c.1634C>A (p.Ala545Glu) c.1559C>A (p.Ala520Glu) c.51C>A c.566C>A (p.Ala189Glu) c.1649C>A (p.Ala550Glu) c.1550C>A (p.Ala517Glu) c.1724C>A (p.Ala575Glu) c.*166C>A (n.*166C>A) c.*1179C>A (n.*1179C>A) n.559C>A c.1082C>A (p.Ala361Glu) c.719C>A (p.Ala240Glu) c.164C>A (p.Ala55Glu) c.1922C>A (p.Ala641Glu) c.1727C>A (p.Ala576Glu) c.1802C>A (p.Ala601Glu) c.1718C>A (p.Ala573Glu) | gnomAD v4 |
| 12 | g.2566472C>G | CA383368488 | CACNA1C | c.978C>G (n.978C>G) c.1634C>G (p.Ala545Gly) c.1559C>G (p.Ala520Gly) c.51C>G c.566C>G (p.Ala189Gly) c.1649C>G (p.Ala550Gly) c.1550C>G (p.Ala517Gly) c.1724C>G (p.Ala575Gly) c.*166C>G (n.*166C>G) c.*1179C>G (n.*1179C>G) n.559C>G c.1082C>G (p.Ala361Gly) c.719C>G (p.Ala240Gly) c.164C>G (p.Ala55Gly) c.1922C>G (p.Ala641Gly) c.1727C>G (p.Ala576Gly) c.1802C>G (p.Ala601Gly) c.1718C>G (p.Ala573Gly) | |
| 12 | g.2566472C>T | CA383368489 | CACNA1C | c.978C>T (n.978C>T) c.1634C>T (p.Ala545Val) c.1559C>T (p.Ala520Val) c.51C>T c.566C>T (p.Ala189Val) c.1649C>T (p.Ala550Val) c.1550C>T (p.Ala517Val) c.1724C>T (p.Ala575Val) c.*166C>T (n.*166C>T) c.*1179C>T (n.*1179C>T) n.559C>T c.1082C>T (p.Ala361Val) c.719C>T (p.Ala240Val) c.164C>T (p.Ala55Val) c.1922C>T (p.Ala641Val) c.1727C>T (p.Ala576Val) c.1802C>T (p.Ala601Val) c.1718C>T (p.Ala573Val) | ClinVar |
| 12 | g.2566473A>C | CA477884514 | CACNA1C | c.979A>C (n.979A>C) c.1635A>C (p.Ala545=) c.1560A>C (p.Ala520=) c.52A>C c.567A>C (p.Ala189=) c.1650A>C (p.Ala550=) c.1551A>C (p.Ala517=) c.1725A>C (p.Ala575=) c.*167A>C (n.*167A>C) c.*1180A>C (n.*1180A>C) n.560A>C c.1083A>C (p.Ala361=) c.720A>C (p.Ala240=) c.165A>C (p.Ala55=) c.1923A>C (p.Ala641=) c.1728A>C (p.Ala576=) c.1803A>C (p.Ala601=) c.1719A>C (p.Ala573=) | gnomAD v4 |
| 12 | g.2566473A>G | CA477884512 | CACNA1C | c.979A>G (n.979A>G) c.1635A>G (p.Ala545=) c.1560A>G (p.Ala520=) c.52A>G c.567A>G (p.Ala189=) c.1650A>G (p.Ala550=) c.1551A>G (p.Ala517=) c.1725A>G (p.Ala575=) c.*167A>G (n.*167A>G) c.*1180A>G (n.*1180A>G) n.560A>G c.1083A>G (p.Ala361=) c.720A>G (p.Ala240=) c.165A>G (p.Ala55=) c.1923A>G (p.Ala641=) c.1728A>G (p.Ala576=) c.1803A>G (p.Ala601=) c.1719A>G (p.Ala573=) | ClinVar gnomAD v4 |
| 12 | g.2566473A>T | CA477884510 | CACNA1C | c.979A>T (n.979A>T) c.1635A>T (p.Ala545=) c.1560A>T (p.Ala520=) c.52A>T c.567A>T (p.Ala189=) c.1650A>T (p.Ala550=) c.1551A>T (p.Ala517=) c.1725A>T (p.Ala575=) c.*167A>T (n.*167A>T) c.*1180A>T (n.*1180A>T) n.560A>T c.1083A>T (p.Ala361=) c.720A>T (p.Ala240=) c.165A>T (p.Ala55=) c.1923A>T (p.Ala641=) c.1728A>T (p.Ala576=) c.1803A>T (p.Ala601=) c.1719A>T (p.Ala573=) | |
| 12 | g.2566474G>A | CA383368491 | CACNA1C | c.980G>A (n.980G>A) c.1636G>A (p.Val546Ile) c.1561G>A (p.Val521Ile) c.53G>A c.568G>A (p.Val190Ile) c.1651G>A (p.Val551Ile) c.1552G>A (p.Val518Ile) c.1726G>A (p.Val576Ile) c.*168G>A (n.*168G>A) c.*1181G>A (n.*1181G>A) n.561G>A c.1084G>A (p.Val362Ile) c.721G>A (p.Val241Ile) c.166G>A (p.Val56Ile) c.1924G>A (p.Val642Ile) c.1729G>A (p.Val577Ile) c.1804G>A (p.Val602Ile) c.1720G>A (p.Val574Ile) | ClinVar gnomAD v4 |
| 12 | g.2566474G>C | CA383368492 | CACNA1C | c.980G>C (n.980G>C) c.1636G>C (p.Val546Leu) c.1561G>C (p.Val521Leu) c.53G>C c.568G>C (p.Val190Leu) c.1651G>C (p.Val551Leu) c.1552G>C (p.Val518Leu) c.1726G>C (p.Val576Leu) c.*168G>C (n.*168G>C) c.*1181G>C (n.*1181G>C) n.561G>C c.1084G>C (p.Val362Leu) c.721G>C (p.Val241Leu) c.166G>C (p.Val56Leu) c.1924G>C (p.Val642Leu) c.1729G>C (p.Val577Leu) c.1804G>C (p.Val602Leu) c.1720G>C (p.Val574Leu) | |
| 12 | g.2566474G>T | CA383368493 | CACNA1C | c.980G>T (n.980G>T) c.1636G>T (p.Val546Phe) c.1561G>T (p.Val521Phe) c.53G>T c.568G>T (p.Val190Phe) c.1651G>T (p.Val551Phe) c.1552G>T (p.Val518Phe) c.1726G>T (p.Val576Phe) c.*168G>T (n.*168G>T) c.*1181G>T (n.*1181G>T) n.561G>T c.1084G>T (p.Val362Phe) c.721G>T (p.Val241Phe) c.166G>T (p.Val56Phe) c.1924G>T (p.Val642Phe) c.1729G>T (p.Val577Phe) c.1804G>T (p.Val602Phe) c.1720G>T (p.Val574Phe) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 12 | g.2566475T>A | CA383368494 | CACNA1C | c.981T>A (n.981T>A) c.1637T>A (p.Val546Asp) c.1562T>A (p.Val521Asp) c.54T>A c.569T>A (p.Val190Asp) c.1652T>A (p.Val551Asp) c.1553T>A (p.Val518Asp) c.1727T>A (p.Val576Asp) c.*169T>A (n.*169T>A) c.*1182T>A (n.*1182T>A) n.562T>A c.1085T>A (p.Val362Asp) c.722T>A (p.Val241Asp) c.167T>A (p.Val56Asp) c.1925T>A (p.Val642Asp) c.1730T>A (p.Val577Asp) c.1805T>A (p.Val602Asp) c.1721T>A (p.Val574Asp) | |
| 12 | g.2566475T>C | CA383368495 | CACNA1C | c.981T>C (n.981T>C) c.1637T>C (p.Val546Ala) c.1562T>C (p.Val521Ala) c.54T>C c.569T>C (p.Val190Ala) c.1652T>C (p.Val551Ala) c.1553T>C (p.Val518Ala) c.1727T>C (p.Val576Ala) c.*169T>C (n.*169T>C) c.*1182T>C (n.*1182T>C) n.562T>C c.1085T>C (p.Val362Ala) c.722T>C (p.Val241Ala) c.167T>C (p.Val56Ala) c.1925T>C (p.Val642Ala) c.1730T>C (p.Val577Ala) c.1805T>C (p.Val602Ala) c.1721T>C (p.Val574Ala) | dbSNP gnomAD v2 |
| 12 | g.2566475T>G | CA383368496 | CACNA1C | c.981T>G (n.981T>G) c.1637T>G (p.Val546Gly) c.1562T>G (p.Val521Gly) c.54T>G c.569T>G (p.Val190Gly) c.1652T>G (p.Val551Gly) c.1553T>G (p.Val518Gly) c.1727T>G (p.Val576Gly) c.*169T>G (n.*169T>G) c.*1182T>G (n.*1182T>G) n.562T>G c.1085T>G (p.Val362Gly) c.722T>G (p.Val241Gly) c.167T>G (p.Val56Gly) c.1925T>G (p.Val642Gly) c.1730T>G (p.Val577Gly) c.1805T>G (p.Val602Gly) c.1721T>G (p.Val574Gly) | |
| 12 | g.2566476C>A | CA477884522 | CACNA1C | c.982C>A (n.982C>A) c.1638C>A (p.Val546=) c.1563C>A (p.Val521=) c.55C>A c.570C>A (p.Val190=) c.1653C>A (p.Val551=) c.1554C>A (p.Val518=) c.1728C>A (p.Val576=) c.*170C>A (n.*170C>A) c.*1183C>A (n.*1183C>A) n.563C>A c.1086C>A (p.Val362=) c.723C>A (p.Val241=) c.168C>A (p.Val56=) c.1926C>A (p.Val642=) c.1731C>A (p.Val577=) c.1806C>A (p.Val602=) c.1722C>A (p.Val574=) | gnomAD v4 |
| 12 | g.2566476C>G | CA477884520 | CACNA1C | c.982C>G (n.982C>G) c.1638C>G (p.Val546=) c.1563C>G (p.Val521=) c.55C>G c.570C>G (p.Val190=) c.1653C>G (p.Val551=) c.1554C>G (p.Val518=) c.1728C>G (p.Val576=) c.*170C>G (n.*170C>G) c.*1183C>G (n.*1183C>G) n.563C>G c.1086C>G (p.Val362=) c.723C>G (p.Val241=) c.168C>G (p.Val56=) c.1926C>G (p.Val642=) c.1731C>G (p.Val577=) c.1806C>G (p.Val602=) c.1722C>G (p.Val574=) | dbSNP gnomAD v4 |
| 12 | g.2566476C>T | CA477884521 | CACNA1C | c.982C>T (n.982C>T) c.1638C>T (p.Val546=) c.1563C>T (p.Val521=) c.55C>T c.570C>T (p.Val190=) c.1653C>T (p.Val551=) c.1554C>T (p.Val518=) c.1728C>T (p.Val576=) c.*170C>T (n.*170C>T) c.*1183C>T (n.*1183C>T) n.563C>T c.1086C>T (p.Val362=) c.723C>T (p.Val241=) c.168C>T (p.Val56=) c.1926C>T (p.Val642=) c.1731C>T (p.Val577=) c.1806C>T (p.Val602=) c.1722C>T (p.Val574=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.2566477A>C | CA383368497 | CACNA1C | c.983A>C (n.983A>C) c.1639A>C (p.Lys547Gln) c.1564A>C (p.Lys522Gln) c.56A>C c.571A>C (p.Lys191Gln) c.1654A>C (p.Lys552Gln) c.1555A>C (p.Lys519Gln) c.1729A>C (p.Lys577Gln) c.*171A>C (n.*171A>C) c.*1184A>C (n.*1184A>C) n.564A>C c.1087A>C (p.Lys363Gln) c.724A>C (p.Lys242Gln) c.169A>C (p.Lys57Gln) c.1927A>C (p.Lys643Gln) c.1732A>C (p.Lys578Gln) c.1807A>C (p.Lys603Gln) c.1723A>C (p.Lys575Gln) | |
| 12 | g.2566477A>G | CA383368498 | CACNA1C | c.983A>G (n.983A>G) c.1639A>G (p.Lys547Glu) c.1564A>G (p.Lys522Glu) c.56A>G c.571A>G (p.Lys191Glu) c.1654A>G (p.Lys552Glu) c.1555A>G (p.Lys519Glu) c.1729A>G (p.Lys577Glu) c.*171A>G (n.*171A>G) c.*1184A>G (n.*1184A>G) n.564A>G c.1087A>G (p.Lys363Glu) c.724A>G (p.Lys242Glu) c.169A>G (p.Lys57Glu) c.1927A>G (p.Lys643Glu) c.1732A>G (p.Lys578Glu) c.1807A>G (p.Lys603Glu) c.1723A>G (p.Lys575Glu) | |
| 12 | g.2566477A>T | CA383368499 | CACNA1C | c.983A>T (n.983A>T) c.1639A>T (p.Lys547Ter) c.1564A>T (p.Lys522Ter) c.56A>T c.571A>T (p.Lys191Ter) c.1654A>T (p.Lys552Ter) c.1555A>T (p.Lys519Ter) c.1729A>T (p.Lys577Ter) c.*171A>T (n.*171A>T) c.*1184A>T (n.*1184A>T) n.564A>T c.1087A>T (p.Lys363Ter) c.724A>T (p.Lys242Ter) c.169A>T (p.Lys57Ter) c.1927A>T (p.Lys643Ter) c.1732A>T (p.Lys578Ter) c.1807A>T (p.Lys603Ter) c.1723A>T (p.Lys575Ter) | dbSNP gnomAD v4 |
| 12 | g.2566478A>C | CA383368500 | CACNA1C | c.984A>C (n.984A>C) c.1640A>C (p.Lys547Thr) c.1565A>C (p.Lys522Thr) c.57A>C c.572A>C (p.Lys191Thr) c.1655A>C (p.Lys552Thr) c.1556A>C (p.Lys519Thr) c.1730A>C (p.Lys577Thr) c.*172A>C (n.*172A>C) c.*1185A>C (n.*1185A>C) n.565A>C c.1088A>C (p.Lys363Thr) c.725A>C (p.Lys242Thr) c.170A>C (p.Lys57Thr) c.1928A>C (p.Lys643Thr) c.1733A>C (p.Lys578Thr) c.1808A>C (p.Lys603Thr) c.1724A>C (p.Lys575Thr) | |
| 12 | g.2566478A>G | CA383368501 | CACNA1C | c.984A>G (n.984A>G) c.1640A>G (p.Lys547Arg) c.1565A>G (p.Lys522Arg) c.57A>G c.572A>G (p.Lys191Arg) c.1655A>G (p.Lys552Arg) c.1556A>G (p.Lys519Arg) c.1730A>G (p.Lys577Arg) c.*172A>G (n.*172A>G) c.*1185A>G (n.*1185A>G) n.565A>G c.1088A>G (p.Lys363Arg) c.725A>G (p.Lys242Arg) c.170A>G (p.Lys57Arg) c.1928A>G (p.Lys643Arg) c.1733A>G (p.Lys578Arg) c.1808A>G (p.Lys603Arg) c.1724A>G (p.Lys575Arg) | dbSNP gnomAD v2 |
| 12 | g.2566478A>T | CA383368502 | CACNA1C | c.984A>T (n.984A>T) c.1640A>T (p.Lys547Met) c.1565A>T (p.Lys522Met) c.57A>T c.572A>T (p.Lys191Met) c.1655A>T (p.Lys552Met) c.1556A>T (p.Lys519Met) c.1730A>T (p.Lys577Met) c.*172A>T (n.*172A>T) c.*1185A>T (n.*1185A>T) n.565A>T c.1088A>T (p.Lys363Met) c.725A>T (p.Lys242Met) c.170A>T (p.Lys57Met) c.1928A>T (p.Lys643Met) c.1733A>T (p.Lys578Met) c.1808A>T (p.Lys603Met) c.1724A>T (p.Lys575Met) | |
| 12 | g.2566479G>A | CA477884527 | CACNA1C | c.985G>A (n.985G>A) c.1641G>A (p.Lys547=) c.1566G>A (p.Lys522=) c.58G>A c.573G>A (p.Lys191=) c.1656G>A (p.Lys552=) c.1557G>A (p.Lys519=) c.1731G>A (p.Lys577=) c.*173G>A (n.*173G>A) c.*1186G>A (n.*1186G>A) n.566G>A c.1089G>A (p.Lys363=) c.726G>A (p.Lys242=) c.171G>A (p.Lys57=) c.1929G>A (p.Lys643=) c.1734G>A (p.Lys578=) c.1809G>A (p.Lys603=) c.1725G>A (p.Lys575=) | |
| 12 | g.2566479G>C | CA383368504 | CACNA1C | c.985G>C (n.985G>C) c.1641G>C (p.Lys547Asn) c.1566G>C (p.Lys522Asn) c.58G>C c.573G>C (p.Lys191Asn) c.1656G>C (p.Lys552Asn) c.1557G>C (p.Lys519Asn) c.1731G>C (p.Lys577Asn) c.*173G>C (n.*173G>C) c.*1186G>C (n.*1186G>C) n.566G>C c.1089G>C (p.Lys363Asn) c.726G>C (p.Lys242Asn) c.171G>C (p.Lys57Asn) c.1929G>C (p.Lys643Asn) c.1734G>C (p.Lys578Asn) c.1809G>C (p.Lys603Asn) c.1725G>C (p.Lys575Asn) | |
| 12 | g.2566479G>T | CA383368503 | CACNA1C | c.985G>T (n.985G>T) c.1641G>T (p.Lys547Asn) c.1566G>T (p.Lys522Asn) c.58G>T c.573G>T (p.Lys191Asn) c.1656G>T (p.Lys552Asn) c.1557G>T (p.Lys519Asn) c.1731G>T (p.Lys577Asn) c.*173G>T (n.*173G>T) c.*1186G>T (n.*1186G>T) n.566G>T c.1089G>T (p.Lys363Asn) c.726G>T (p.Lys242Asn) c.171G>T (p.Lys57Asn) c.1929G>T (p.Lys643Asn) c.1734G>T (p.Lys578Asn) c.1809G>T (p.Lys603Asn) c.1725G>T (p.Lys575Asn) | |
| 12 | g.2566480T>A | CA383368505 | CACNA1C | c.986T>A (n.986T>A) c.1642T>A (p.Ser548Thr) c.1567T>A (p.Ser523Thr) c.59T>A c.574T>A (p.Ser192Thr) c.1657T>A (p.Ser553Thr) c.1558T>A (p.Ser520Thr) c.1732T>A (p.Ser578Thr) c.*174T>A (n.*174T>A) c.*1187T>A (n.*1187T>A) n.567T>A c.1090T>A (p.Ser364Thr) c.727T>A (p.Ser243Thr) c.172T>A (p.Ser58Thr) c.1930T>A (p.Ser644Thr) c.1735T>A (p.Ser579Thr) c.1810T>A (p.Ser604Thr) c.1726T>A (p.Ser576Thr) | gnomAD v4 |
| 12 | g.2566480T>C | CA383368506 | CACNA1C | c.986T>C (n.986T>C) c.1642T>C (p.Ser548Pro) c.1567T>C (p.Ser523Pro) c.59T>C c.574T>C (p.Ser192Pro) c.1657T>C (p.Ser553Pro) c.1558T>C (p.Ser520Pro) c.1732T>C (p.Ser578Pro) c.*174T>C (n.*174T>C) c.*1187T>C (n.*1187T>C) n.567T>C c.1090T>C (p.Ser364Pro) c.727T>C (p.Ser243Pro) c.172T>C (p.Ser58Pro) c.1930T>C (p.Ser644Pro) c.1735T>C (p.Ser579Pro) c.1810T>C (p.Ser604Pro) c.1726T>C (p.Ser576Pro) | |
| 12 | g.2566480T>G | CA383368507 | CACNA1C | c.986T>G (n.986T>G) c.1642T>G (p.Ser548Ala) c.1567T>G (p.Ser523Ala) c.59T>G c.574T>G (p.Ser192Ala) c.1657T>G (p.Ser553Ala) c.1558T>G (p.Ser520Ala) c.1732T>G (p.Ser578Ala) c.*174T>G (n.*174T>G) c.*1187T>G (n.*1187T>G) n.567T>G c.1090T>G (p.Ser364Ala) c.727T>G (p.Ser243Ala) c.172T>G (p.Ser58Ala) c.1930T>G (p.Ser644Ala) c.1735T>G (p.Ser579Ala) c.1810T>G (p.Ser604Ala) c.1726T>G (p.Ser576Ala) | |
| 12 | g.2566481C>A | CA383368508 | CACNA1C | c.987C>A (n.987C>A) c.1643C>A (p.Ser548Tyr) c.1568C>A (p.Ser523Tyr) c.60C>A c.575C>A (p.Ser192Tyr) c.1658C>A (p.Ser553Tyr) c.1559C>A (p.Ser520Tyr) c.1733C>A (p.Ser578Tyr) c.*175C>A (n.*175C>A) c.*1188C>A (n.*1188C>A) n.568C>A c.1091C>A (p.Ser364Tyr) c.728C>A (p.Ser243Tyr) c.173C>A (p.Ser58Tyr) c.1931C>A (p.Ser644Tyr) c.1736C>A (p.Ser579Tyr) c.1811C>A (p.Ser604Tyr) c.1727C>A (p.Ser576Tyr) | |
| 12 | g.2566481C>G | CA383368509 | CACNA1C | c.987C>G (n.987C>G) c.1643C>G (p.Ser548Cys) c.1568C>G (p.Ser523Cys) c.60C>G c.575C>G (p.Ser192Cys) c.1658C>G (p.Ser553Cys) c.1559C>G (p.Ser520Cys) c.1733C>G (p.Ser578Cys) c.*175C>G (n.*175C>G) c.*1188C>G (n.*1188C>G) n.568C>G c.1091C>G (p.Ser364Cys) c.728C>G (p.Ser243Cys) c.173C>G (p.Ser58Cys) c.1931C>G (p.Ser644Cys) c.1736C>G (p.Ser579Cys) c.1811C>G (p.Ser604Cys) c.1727C>G (p.Ser576Cys) | gnomAD v4 |
| 12 | g.2566481C>T | CA383368510 | CACNA1C | c.987C>T (n.987C>T) c.1643C>T (p.Ser548Phe) c.1568C>T (p.Ser523Phe) c.60C>T c.575C>T (p.Ser192Phe) c.1658C>T (p.Ser553Phe) c.1559C>T (p.Ser520Phe) c.1733C>T (p.Ser578Phe) c.*175C>T (n.*175C>T) c.*1188C>T (n.*1188C>T) n.568C>T c.1091C>T (p.Ser364Phe) c.728C>T (p.Ser243Phe) c.173C>T (p.Ser58Phe) c.1931C>T (p.Ser644Phe) c.1736C>T (p.Ser579Phe) c.1811C>T (p.Ser604Phe) c.1727C>T (p.Ser576Phe) | |
| 12 | g.2566482T>A | CA477884532 | CACNA1C | c.988T>A (n.988T>A) c.1644T>A (p.Ser548=) c.1569T>A (p.Ser523=) c.61T>A c.576T>A (p.Ser192=) c.1659T>A (p.Ser553=) c.1560T>A (p.Ser520=) c.1734T>A (p.Ser578=) c.*176T>A (n.*176T>A) c.*1189T>A (n.*1189T>A) n.569T>A c.1092T>A (p.Ser364=) c.729T>A (p.Ser243=) c.174T>A (p.Ser58=) c.1932T>A (p.Ser644=) c.1737T>A (p.Ser579=) c.1812T>A (p.Ser604=) c.1728T>A (p.Ser576=) | |
| 12 | g.2566482T>C | CA477884534 | CACNA1C | c.988T>C (n.988T>C) c.1644T>C (p.Ser548=) c.1569T>C (p.Ser523=) c.61T>C c.576T>C (p.Ser192=) c.1659T>C (p.Ser553=) c.1560T>C (p.Ser520=) c.1734T>C (p.Ser578=) c.*176T>C (n.*176T>C) c.*1189T>C (n.*1189T>C) n.569T>C c.1092T>C (p.Ser364=) c.729T>C (p.Ser243=) c.174T>C (p.Ser58=) c.1932T>C (p.Ser644=) c.1737T>C (p.Ser579=) c.1812T>C (p.Ser604=) c.1728T>C (p.Ser576=) | ClinVar dbSNP |