Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.53801131A= | CA1365484150 | CACNA1D | c.5174A= (p.Asn1725=) n.2194-81A= n.549A= c.5114A= (p.Asn1705=) c.5069A= (p.Asn1690=) c.1316-81A= n.470A= n.541A= c.5141A= (p.Asn1714=) c.4193A= (p.Asn1398=) c.5369A= (p.Asn1790=) c.5258A= (p.Asn1753=) c.5180A= (p.Asn1727=) c.4832A= (p.Asn1611=) c.4457A= (p.Asn1486=) c.5264A= (p.Asn1755=) c.5366A= (p.Asn1789=) c.5309A= (p.Asn1770=) c.5285A= (p.Asn1762=) c.5240A= (p.Asn1747=) | |
3 | g.53801131A>C | CA353249960 | CACNA1D | c.5174A>C (p.Asn1725Thr) n.2194-81A>C n.549A>C c.5114A>C (p.Asn1705Thr) c.5069A>C (p.Asn1690Thr) c.1316-81A>C n.470A>C n.541A>C c.5141A>C (p.Asn1714Thr) c.4193A>C (p.Asn1398Thr) c.5369A>C (p.Asn1790Thr) c.5258A>C (p.Asn1753Thr) c.5180A>C (p.Asn1727Thr) c.4832A>C (p.Asn1611Thr) c.4457A>C (p.Asn1486Thr) c.5264A>C (p.Asn1755Thr) c.5366A>C (p.Asn1789Thr) c.5309A>C (p.Asn1770Thr) c.5285A>C (p.Asn1762Thr) c.5240A>C (p.Asn1747Thr) | |
3 | g.53801131A>G | CA353249962 | CACNA1D | c.5174A>G (p.Asn1725Ser) n.2194-81A>G n.549A>G c.5114A>G (p.Asn1705Ser) c.5069A>G (p.Asn1690Ser) c.1316-81A>G n.470A>G n.541A>G c.5141A>G (p.Asn1714Ser) c.4193A>G (p.Asn1398Ser) c.5369A>G (p.Asn1790Ser) c.5258A>G (p.Asn1753Ser) c.5180A>G (p.Asn1727Ser) c.4832A>G (p.Asn1611Ser) c.4457A>G (p.Asn1486Ser) c.5264A>G (p.Asn1755Ser) c.5366A>G (p.Asn1789Ser) c.5309A>G (p.Asn1770Ser) c.5285A>G (p.Asn1762Ser) c.5240A>G (p.Asn1747Ser) | ClinVar dbSNP gnomAD v2 |
3 | g.53801131A>T | CA353249964 | CACNA1D | c.5174A>T (p.Asn1725Ile) n.2194-81A>T n.549A>T c.5114A>T (p.Asn1705Ile) c.5069A>T (p.Asn1690Ile) c.1316-81A>T n.470A>T n.541A>T c.5141A>T (p.Asn1714Ile) c.4193A>T (p.Asn1398Ile) c.5369A>T (p.Asn1790Ile) c.5258A>T (p.Asn1753Ile) c.5180A>T (p.Asn1727Ile) c.4832A>T (p.Asn1611Ile) c.4457A>T (p.Asn1486Ile) c.5264A>T (p.Asn1755Ile) c.5366A>T (p.Asn1789Ile) c.5309A>T (p.Asn1770Ile) c.5285A>T (p.Asn1762Ile) c.5240A>T (p.Asn1747Ile) | |
3 | g.53801132T>A | CA353249966 | CACNA1D | c.5175T>A (p.Asn1725Lys) n.2194-80T>A n.550T>A c.5115T>A (p.Asn1705Lys) c.5070T>A (p.Asn1690Lys) c.1316-80T>A n.471T>A n.542T>A c.5142T>A (p.Asn1714Lys) c.4194T>A (p.Asn1398Lys) c.5370T>A (p.Asn1790Lys) c.5259T>A (p.Asn1753Lys) c.5181T>A (p.Asn1727Lys) c.4833T>A (p.Asn1611Lys) c.4458T>A (p.Asn1486Lys) c.5265T>A (p.Asn1755Lys) c.5367T>A (p.Asn1789Lys) c.5310T>A (p.Asn1770Lys) c.5286T>A (p.Asn1762Lys) c.5241T>A (p.Asn1747Lys) | |
3 | g.53801132T>C | CA433895843 | CACNA1D | c.5175T>C (p.Asn1725=) n.2194-80T>C n.550T>C c.5115T>C (p.Asn1705=) c.5070T>C (p.Asn1690=) c.1316-80T>C n.471T>C n.542T>C c.5142T>C (p.Asn1714=) c.4194T>C (p.Asn1398=) c.5370T>C (p.Asn1790=) c.5259T>C (p.Asn1753=) c.5181T>C (p.Asn1727=) c.4833T>C (p.Asn1611=) c.4458T>C (p.Asn1486=) c.5265T>C (p.Asn1755=) c.5367T>C (p.Asn1789=) c.5310T>C (p.Asn1770=) c.5286T>C (p.Asn1762=) c.5241T>C (p.Asn1747=) | gnomAD v4 |
3 | g.53801132T>G | CA353249967 | CACNA1D | c.5175T>G (p.Asn1725Lys) n.2194-80T>G n.550T>G c.5115T>G (p.Asn1705Lys) c.5070T>G (p.Asn1690Lys) c.1316-80T>G n.471T>G n.542T>G c.5142T>G (p.Asn1714Lys) c.4194T>G (p.Asn1398Lys) c.5370T>G (p.Asn1790Lys) c.5259T>G (p.Asn1753Lys) c.5181T>G (p.Asn1727Lys) c.4833T>G (p.Asn1611Lys) c.4458T>G (p.Asn1486Lys) c.5265T>G (p.Asn1755Lys) c.5367T>G (p.Asn1789Lys) c.5310T>G (p.Asn1770Lys) c.5286T>G (p.Asn1762Lys) c.5241T>G (p.Asn1747Lys) | |
3 | g.53801133A>C | CA353249970 | CACNA1D | c.5176A>C (p.Thr1726Pro) n.2194-79A>C n.551A>C c.5116A>C (p.Thr1706Pro) c.5071A>C (p.Thr1691Pro) c.1316-79A>C n.472A>C n.543A>C c.5143A>C (p.Thr1715Pro) c.4195A>C (p.Thr1399Pro) c.5371A>C (p.Thr1791Pro) c.5260A>C (p.Thr1754Pro) c.5182A>C (p.Thr1728Pro) c.4834A>C (p.Thr1612Pro) c.4459A>C (p.Thr1487Pro) c.5266A>C (p.Thr1756Pro) c.5368A>C (p.Thr1790Pro) c.5311A>C (p.Thr1771Pro) c.5287A>C (p.Thr1763Pro) c.5242A>C (p.Thr1748Pro) | |
3 | g.53801133A>G | CA353249969 | CACNA1D | c.5176A>G (p.Thr1726Ala) n.2194-79A>G n.551A>G c.5116A>G (p.Thr1706Ala) c.5071A>G (p.Thr1691Ala) c.1316-79A>G n.472A>G n.543A>G c.5143A>G (p.Thr1715Ala) c.4195A>G (p.Thr1399Ala) c.5371A>G (p.Thr1791Ala) c.5260A>G (p.Thr1754Ala) c.5182A>G (p.Thr1728Ala) c.4834A>G (p.Thr1612Ala) c.4459A>G (p.Thr1487Ala) c.5266A>G (p.Thr1756Ala) c.5368A>G (p.Thr1790Ala) c.5311A>G (p.Thr1771Ala) c.5287A>G (p.Thr1763Ala) c.5242A>G (p.Thr1748Ala) | |
3 | g.53801133A>T | CA353249968 | CACNA1D | c.5176A>T (p.Thr1726Ser) n.2194-79A>T n.551A>T c.5116A>T (p.Thr1706Ser) c.5071A>T (p.Thr1691Ser) c.1316-79A>T n.472A>T n.543A>T c.5143A>T (p.Thr1715Ser) c.4195A>T (p.Thr1399Ser) c.5371A>T (p.Thr1791Ser) c.5260A>T (p.Thr1754Ser) c.5182A>T (p.Thr1728Ser) c.4834A>T (p.Thr1612Ser) c.4459A>T (p.Thr1487Ser) c.5266A>T (p.Thr1756Ser) c.5368A>T (p.Thr1790Ser) c.5311A>T (p.Thr1771Ser) c.5287A>T (p.Thr1763Ser) c.5242A>T (p.Thr1748Ser) | |
3 | g.53801134C>A | CA353249973 | CACNA1D | c.5177C>A (p.Thr1726Asn) n.2194-78C>A n.552C>A c.5117C>A (p.Thr1706Asn) c.5072C>A (p.Thr1691Asn) c.1316-78C>A n.473C>A n.544C>A c.5144C>A (p.Thr1715Asn) c.4196C>A (p.Thr1399Asn) c.5372C>A (p.Thr1791Asn) c.5261C>A (p.Thr1754Asn) c.5183C>A (p.Thr1728Asn) c.4835C>A (p.Thr1612Asn) c.4460C>A (p.Thr1487Asn) c.5267C>A (p.Thr1756Asn) c.5369C>A (p.Thr1790Asn) c.5312C>A (p.Thr1771Asn) c.5288C>A (p.Thr1763Asn) c.5243C>A (p.Thr1748Asn) | |
3 | g.53801134C>G | CA353249974 | CACNA1D | c.5177C>G (p.Thr1726Ser) n.2194-78C>G n.552C>G c.5117C>G (p.Thr1706Ser) c.5072C>G (p.Thr1691Ser) c.1316-78C>G n.473C>G n.544C>G c.5144C>G (p.Thr1715Ser) c.4196C>G (p.Thr1399Ser) c.5372C>G (p.Thr1791Ser) c.5261C>G (p.Thr1754Ser) c.5183C>G (p.Thr1728Ser) c.4835C>G (p.Thr1612Ser) c.4460C>G (p.Thr1487Ser) c.5267C>G (p.Thr1756Ser) c.5369C>G (p.Thr1790Ser) c.5312C>G (p.Thr1771Ser) c.5288C>G (p.Thr1763Ser) c.5243C>G (p.Thr1748Ser) | |
3 | g.53801134C>T | CA353249975 | CACNA1D | c.5177C>T (p.Thr1726Ile) n.2194-78C>T n.552C>T c.5117C>T (p.Thr1706Ile) c.5072C>T (p.Thr1691Ile) c.1316-78C>T n.473C>T n.544C>T c.5144C>T (p.Thr1715Ile) c.4196C>T (p.Thr1399Ile) c.5372C>T (p.Thr1791Ile) c.5261C>T (p.Thr1754Ile) c.5183C>T (p.Thr1728Ile) c.4835C>T (p.Thr1612Ile) c.4460C>T (p.Thr1487Ile) c.5267C>T (p.Thr1756Ile) c.5369C>T (p.Thr1790Ile) c.5312C>T (p.Thr1771Ile) c.5288C>T (p.Thr1763Ile) c.5243C>T (p.Thr1748Ile) | |
3 | g.53801135C>A | CA433895852 | CACNA1D | c.5178C>A (p.Thr1726=) n.2194-77C>A n.553C>A c.5118C>A (p.Thr1706=) c.5073C>A (p.Thr1691=) c.1316-77C>A n.474C>A n.545C>A c.5145C>A (p.Thr1715=) c.4197C>A (p.Thr1399=) c.5373C>A (p.Thr1791=) c.5262C>A (p.Thr1754=) c.5184C>A (p.Thr1728=) c.4836C>A (p.Thr1612=) c.4461C>A (p.Thr1487=) c.5268C>A (p.Thr1756=) c.5370C>A (p.Thr1790=) c.5313C>A (p.Thr1771=) c.5289C>A (p.Thr1763=) c.5244C>A (p.Thr1748=) | gnomAD v4 |
3 | g.53801135C= | CA1365484151 | CACNA1D | c.5178C= (p.Thr1726=) n.2194-77C= n.553C= c.5118C= (p.Thr1706=) c.5073C= (p.Thr1691=) c.1316-77C= n.474C= n.545C= c.5145C= (p.Thr1715=) c.4197C= (p.Thr1399=) c.5373C= (p.Thr1791=) c.5262C= (p.Thr1754=) c.5184C= (p.Thr1728=) c.4836C= (p.Thr1612=) c.4461C= (p.Thr1487=) c.5268C= (p.Thr1756=) c.5370C= (p.Thr1790=) c.5313C= (p.Thr1771=) c.5289C= (p.Thr1763=) c.5244C= (p.Thr1748=) | |
3 | g.53801135C>G | CA433895853 | CACNA1D | c.5178C>G (p.Thr1726=) n.2194-77C>G n.553C>G c.5118C>G (p.Thr1706=) c.5073C>G (p.Thr1691=) c.1316-77C>G n.474C>G n.545C>G c.5145C>G (p.Thr1715=) c.4197C>G (p.Thr1399=) c.5373C>G (p.Thr1791=) c.5262C>G (p.Thr1754=) c.5184C>G (p.Thr1728=) c.4836C>G (p.Thr1612=) c.4461C>G (p.Thr1487=) c.5268C>G (p.Thr1756=) c.5370C>G (p.Thr1790=) c.5313C>G (p.Thr1771=) c.5289C>G (p.Thr1763=) c.5244C>G (p.Thr1748=) | |
3 | g.53801135C>T | CA2455081 | CACNA1D | c.5178C>T (p.Thr1726=) n.2194-77C>T n.553C>T c.5118C>T (p.Thr1706=) c.5073C>T (p.Thr1691=) c.1316-77C>T n.474C>T n.545C>T c.5145C>T (p.Thr1715=) c.4197C>T (p.Thr1399=) c.5373C>T (p.Thr1791=) c.5262C>T (p.Thr1754=) c.5184C>T (p.Thr1728=) c.4836C>T (p.Thr1612=) c.4461C>T (p.Thr1487=) c.5268C>T (p.Thr1756=) c.5370C>T (p.Thr1790=) c.5313C>T (p.Thr1771=) c.5289C>T (p.Thr1763=) c.5244C>T (p.Thr1748=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.53801136A>C | CA353249977 | CACNA1D | c.5179A>C (p.Thr1727Pro) n.2194-76A>C n.554A>C c.5119A>C (p.Thr1707Pro) c.5074A>C (p.Thr1692Pro) c.1316-76A>C n.475A>C n.546A>C c.5146A>C (p.Thr1716Pro) c.4198A>C (p.Thr1400Pro) c.5374A>C (p.Thr1792Pro) c.5263A>C (p.Thr1755Pro) c.5185A>C (p.Thr1729Pro) c.4837A>C (p.Thr1613Pro) c.4462A>C (p.Thr1488Pro) c.5269A>C (p.Thr1757Pro) c.5371A>C (p.Thr1791Pro) c.5314A>C (p.Thr1772Pro) c.5290A>C (p.Thr1764Pro) c.5245A>C (p.Thr1749Pro) | |
3 | g.53801136A>G | CA353249979 | CACNA1D | c.5179A>G (p.Thr1727Ala) n.2194-76A>G n.554A>G c.5119A>G (p.Thr1707Ala) c.5074A>G (p.Thr1692Ala) c.1316-76A>G n.475A>G n.546A>G c.5146A>G (p.Thr1716Ala) c.4198A>G (p.Thr1400Ala) c.5374A>G (p.Thr1792Ala) c.5263A>G (p.Thr1755Ala) c.5185A>G (p.Thr1729Ala) c.4837A>G (p.Thr1613Ala) c.4462A>G (p.Thr1488Ala) c.5269A>G (p.Thr1757Ala) c.5371A>G (p.Thr1791Ala) c.5314A>G (p.Thr1772Ala) c.5290A>G (p.Thr1764Ala) c.5245A>G (p.Thr1749Ala) | |
3 | g.53801136A>T | CA353249981 | CACNA1D | c.5179A>T (p.Thr1727Ser) n.2194-76A>T n.554A>T c.5119A>T (p.Thr1707Ser) c.5074A>T (p.Thr1692Ser) c.1316-76A>T n.475A>T n.546A>T c.5146A>T (p.Thr1716Ser) c.4198A>T (p.Thr1400Ser) c.5374A>T (p.Thr1792Ser) c.5263A>T (p.Thr1755Ser) c.5185A>T (p.Thr1729Ser) c.4837A>T (p.Thr1613Ser) c.4462A>T (p.Thr1488Ser) c.5269A>T (p.Thr1757Ser) c.5371A>T (p.Thr1791Ser) c.5314A>T (p.Thr1772Ser) c.5290A>T (p.Thr1764Ser) c.5245A>T (p.Thr1749Ser) | |
3 | g.53801136_53801137insGGTAATTTAACAAGTATTTGATG | CA2545890271 | CACNA1D | c.5179_5180insGGTAATTTAACAAGTATTTGATG (p.Thr1727ArgfsTer2) n.2194-76_2194-75insGGTAATTTAACAAGTATTTGATG n.554_555insGGTAATTTAACAAGTATTTGATG c.5119_5120insGGTAATTTAACAAGTATTTGATG (p.Thr1707ArgfsTer2) c.5074_5075insGGTAATTTAACAAGTATTTGATG (p.Thr1692ArgfsTer2) c.1316-76_1316-75insGGTAATTTAACAAGTATTTGATG n.475_476insGGTAATTTAACAAGTATTTGATG n.546_547insGGTAATTTAACAAGTATTTGATG c.5146_5147insGGTAATTTAACAAGTATTTGATG (p.Thr1716ArgfsTer2) c.4198_4199insGGTAATTTAACAAGTATTTGATG (p.Thr1400ArgfsTer2) c.5374_5375insGGTAATTTAACAAGTATTTGATG (p.Thr1792ArgfsTer2) c.5263_5264insGGTAATTTAACAAGTATTTGATG (p.Thr1755ArgfsTer2) c.5185_5186insGGTAATTTAACAAGTATTTGATG (p.Thr1729ArgfsTer2) c.4837_4838insGGTAATTTAACAAGTATTTGATG (p.Thr1613ArgfsTer2) c.4462_4463insGGTAATTTAACAAGTATTTGATG (p.Thr1488ArgfsTer2) c.5269_5270insGGTAATTTAACAAGTATTTGATG (p.Thr1757ArgfsTer2) c.5371_5372insGGTAATTTAACAAGTATTTGATG (p.Thr1791ArgfsTer2) c.5314_5315insGGTAATTTAACAAGTATTTGATG (p.Thr1772ArgfsTer2) c.5290_5291insGGTAATTTAACAAGTATTTGATG (p.Thr1764ArgfsTer2) c.5245_5246insGGTAATTTAACAAGTATTTGATG (p.Thr1749ArgfsTer2) | |
3 | g.53801137C>A | CA353249982 | CACNA1D | c.5180C>A (p.Thr1727Asn) n.2194-75C>A n.555C>A c.5120C>A (p.Thr1707Asn) c.5075C>A (p.Thr1692Asn) c.1316-75C>A n.476C>A n.547C>A c.5147C>A (p.Thr1716Asn) c.4199C>A (p.Thr1400Asn) c.5375C>A (p.Thr1792Asn) c.5264C>A (p.Thr1755Asn) c.5186C>A (p.Thr1729Asn) c.4838C>A (p.Thr1613Asn) c.4463C>A (p.Thr1488Asn) c.5270C>A (p.Thr1757Asn) c.5372C>A (p.Thr1791Asn) c.5315C>A (p.Thr1772Asn) c.5291C>A (p.Thr1764Asn) c.5246C>A (p.Thr1749Asn) | |
3 | g.53801137C>G | CA353249983 | CACNA1D | c.5180C>G (p.Thr1727Ser) n.2194-75C>G n.555C>G c.5120C>G (p.Thr1707Ser) c.5075C>G (p.Thr1692Ser) c.1316-75C>G n.476C>G n.547C>G c.5147C>G (p.Thr1716Ser) c.4199C>G (p.Thr1400Ser) c.5375C>G (p.Thr1792Ser) c.5264C>G (p.Thr1755Ser) c.5186C>G (p.Thr1729Ser) c.4838C>G (p.Thr1613Ser) c.4463C>G (p.Thr1488Ser) c.5270C>G (p.Thr1757Ser) c.5372C>G (p.Thr1791Ser) c.5315C>G (p.Thr1772Ser) c.5291C>G (p.Thr1764Ser) c.5246C>G (p.Thr1749Ser) | |
3 | g.53801137C>T | CA353249984 | CACNA1D | c.5180C>T (p.Thr1727Ile) n.2194-75C>T n.555C>T c.5120C>T (p.Thr1707Ile) c.5075C>T (p.Thr1692Ile) c.1316-75C>T n.476C>T n.547C>T c.5147C>T (p.Thr1716Ile) c.4199C>T (p.Thr1400Ile) c.5375C>T (p.Thr1792Ile) c.5264C>T (p.Thr1755Ile) c.5186C>T (p.Thr1729Ile) c.4838C>T (p.Thr1613Ile) c.4463C>T (p.Thr1488Ile) c.5270C>T (p.Thr1757Ile) c.5372C>T (p.Thr1791Ile) c.5315C>T (p.Thr1772Ile) c.5291C>T (p.Thr1764Ile) c.5246C>T (p.Thr1749Ile) | |
3 | g.53801138C>A | CA433895861 | CACNA1D | c.5181C>A (p.Thr1727=) n.2194-74C>A n.556C>A c.5121C>A (p.Thr1707=) c.5076C>A (p.Thr1692=) c.1316-74C>A n.477C>A n.548C>A c.5148C>A (p.Thr1716=) c.4200C>A (p.Thr1400=) c.5376C>A (p.Thr1792=) c.5265C>A (p.Thr1755=) c.5187C>A (p.Thr1729=) c.4839C>A (p.Thr1613=) c.4464C>A (p.Thr1488=) c.5271C>A (p.Thr1757=) c.5373C>A (p.Thr1791=) c.5316C>A (p.Thr1772=) c.5292C>A (p.Thr1764=) c.5247C>A (p.Thr1749=) | |
3 | g.53801138C>G | CA433895868 | CACNA1D | c.5181C>G (p.Thr1727=) n.2194-74C>G n.556C>G c.5121C>G (p.Thr1707=) c.5076C>G (p.Thr1692=) c.1316-74C>G n.477C>G n.548C>G c.5148C>G (p.Thr1716=) c.4200C>G (p.Thr1400=) c.5376C>G (p.Thr1792=) c.5265C>G (p.Thr1755=) c.5187C>G (p.Thr1729=) c.4839C>G (p.Thr1613=) c.4464C>G (p.Thr1488=) c.5271C>G (p.Thr1757=) c.5373C>G (p.Thr1791=) c.5316C>G (p.Thr1772=) c.5292C>G (p.Thr1764=) c.5247C>G (p.Thr1749=) | |
3 | g.53801138C>T | CA433895863 | CACNA1D | c.5181C>T (p.Thr1727=) n.2194-74C>T n.556C>T c.5121C>T (p.Thr1707=) c.5076C>T (p.Thr1692=) c.1316-74C>T n.477C>T n.548C>T c.5148C>T (p.Thr1716=) c.4200C>T (p.Thr1400=) c.5376C>T (p.Thr1792=) c.5265C>T (p.Thr1755=) c.5187C>T (p.Thr1729=) c.4839C>T (p.Thr1613=) c.4464C>T (p.Thr1488=) c.5271C>T (p.Thr1757=) c.5373C>T (p.Thr1791=) c.5316C>T (p.Thr1772=) c.5292C>T (p.Thr1764=) c.5247C>T (p.Thr1749=) | |
3 | g.53801139C>A | CA353249987 | CACNA1D | c.5182C>A (p.His1728Asn) n.2194-73C>A n.557C>A c.5122C>A (p.His1708Asn) c.5077C>A (p.His1693Asn) c.1316-73C>A n.478C>A n.549C>A c.5149C>A (p.His1717Asn) c.4201C>A (p.His1401Asn) c.5377C>A (p.His1793Asn) c.5266C>A (p.His1756Asn) c.5188C>A (p.His1730Asn) c.4840C>A (p.His1614Asn) c.4465C>A (p.His1489Asn) c.5272C>A (p.His1758Asn) c.5374C>A (p.His1792Asn) c.5317C>A (p.His1773Asn) c.5293C>A (p.His1765Asn) c.5248C>A (p.His1750Asn) | |
3 | g.53801139C= | CA1365484152 | CACNA1D | c.5182C= (p.His1728=) n.2194-73C= n.557C= c.5122C= (p.His1708=) c.5077C= (p.His1693=) c.1316-73C= n.478C= n.549C= c.5149C= (p.His1717=) c.4201C= (p.His1401=) c.5377C= (p.His1793=) c.5266C= (p.His1756=) c.5188C= (p.His1730=) c.4840C= (p.His1614=) c.4465C= (p.His1489=) c.5272C= (p.His1758=) c.5374C= (p.His1792=) c.5317C= (p.His1773=) c.5293C= (p.His1765=) c.5248C= (p.His1750=) | |
3 | g.53801139C>G | CA353249989 | CACNA1D | c.5182C>G (p.His1728Asp) n.2194-73C>G n.557C>G c.5122C>G (p.His1708Asp) c.5077C>G (p.His1693Asp) c.1316-73C>G n.478C>G n.549C>G c.5149C>G (p.His1717Asp) c.4201C>G (p.His1401Asp) c.5377C>G (p.His1793Asp) c.5266C>G (p.His1756Asp) c.5188C>G (p.His1730Asp) c.4840C>G (p.His1614Asp) c.4465C>G (p.His1489Asp) c.5272C>G (p.His1758Asp) c.5374C>G (p.His1792Asp) c.5317C>G (p.His1773Asp) c.5293C>G (p.His1765Asp) c.5248C>G (p.His1750Asp) | |
3 | g.53801139C>T | CA353249991 | CACNA1D | c.5182C>T (p.His1728Tyr) n.2194-73C>T n.557C>T c.5122C>T (p.His1708Tyr) c.5077C>T (p.His1693Tyr) c.1316-73C>T n.478C>T n.549C>T c.5149C>T (p.His1717Tyr) c.4201C>T (p.His1401Tyr) c.5377C>T (p.His1793Tyr) c.5266C>T (p.His1756Tyr) c.5188C>T (p.His1730Tyr) c.4840C>T (p.His1614Tyr) c.4465C>T (p.His1489Tyr) c.5272C>T (p.His1758Tyr) c.5374C>T (p.His1792Tyr) c.5317C>T (p.His1773Tyr) c.5293C>T (p.His1765Tyr) c.5248C>T (p.His1750Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.53801140A>C | CA353249997 | CACNA1D | c.5183A>C (p.His1728Pro) n.2194-72A>C n.558A>C c.5123A>C (p.His1708Pro) c.5078A>C (p.His1693Pro) c.1316-72A>C n.479A>C n.550A>C c.5150A>C (p.His1717Pro) c.4202A>C (p.His1401Pro) c.5378A>C (p.His1793Pro) c.5267A>C (p.His1756Pro) c.5189A>C (p.His1730Pro) c.4841A>C (p.His1614Pro) c.4466A>C (p.His1489Pro) c.5273A>C (p.His1758Pro) c.5375A>C (p.His1792Pro) c.5318A>C (p.His1773Pro) c.5294A>C (p.His1765Pro) c.5249A>C (p.His1750Pro) | |
3 | g.53801140A>G | CA353249996 | CACNA1D | c.5183A>G (p.His1728Arg) n.2194-72A>G n.558A>G c.5123A>G (p.His1708Arg) c.5078A>G (p.His1693Arg) c.1316-72A>G n.479A>G n.550A>G c.5150A>G (p.His1717Arg) c.4202A>G (p.His1401Arg) c.5378A>G (p.His1793Arg) c.5267A>G (p.His1756Arg) c.5189A>G (p.His1730Arg) c.4841A>G (p.His1614Arg) c.4466A>G (p.His1489Arg) c.5273A>G (p.His1758Arg) c.5375A>G (p.His1792Arg) c.5318A>G (p.His1773Arg) c.5294A>G (p.His1765Arg) c.5249A>G (p.His1750Arg) | |
3 | g.53801140A>T | CA353249994 | CACNA1D | c.5183A>T (p.His1728Leu) n.2194-72A>T n.558A>T c.5123A>T (p.His1708Leu) c.5078A>T (p.His1693Leu) c.1316-72A>T n.479A>T n.550A>T c.5150A>T (p.His1717Leu) c.4202A>T (p.His1401Leu) c.5378A>T (p.His1793Leu) c.5267A>T (p.His1756Leu) c.5189A>T (p.His1730Leu) c.4841A>T (p.His1614Leu) c.4466A>T (p.His1489Leu) c.5273A>T (p.His1758Leu) c.5375A>T (p.His1792Leu) c.5318A>T (p.His1773Leu) c.5294A>T (p.His1765Leu) c.5249A>T (p.His1750Leu) | |
3 | g.53801141C>A | CA353250000 | CACNA1D | c.5184C>A (p.His1728Gln) n.2194-71C>A n.559C>A c.5124C>A (p.His1708Gln) c.5079C>A (p.His1693Gln) c.1316-71C>A n.480C>A n.551C>A c.5151C>A (p.His1717Gln) c.4203C>A (p.His1401Gln) c.5379C>A (p.His1793Gln) c.5268C>A (p.His1756Gln) c.5190C>A (p.His1730Gln) c.4842C>A (p.His1614Gln) c.4467C>A (p.His1489Gln) c.5274C>A (p.His1758Gln) c.5376C>A (p.His1792Gln) c.5319C>A (p.His1773Gln) c.5295C>A (p.His1765Gln) c.5250C>A (p.His1750Gln) | |
3 | g.53801141C= | CA1365484153 | CACNA1D | c.5184C= (p.His1728=) n.2194-71C= n.559C= c.5124C= (p.His1708=) c.5079C= (p.His1693=) c.1316-71C= n.480C= n.551C= c.5151C= (p.His1717=) c.4203C= (p.His1401=) c.5379C= (p.His1793=) c.5268C= (p.His1756=) c.5190C= (p.His1730=) c.4842C= (p.His1614=) c.4467C= (p.His1489=) c.5274C= (p.His1758=) c.5376C= (p.His1792=) c.5319C= (p.His1773=) c.5295C= (p.His1765=) c.5250C= (p.His1750=) | |
3 | g.53801141C>G | CA353249998 | CACNA1D | c.5184C>G (p.His1728Gln) n.2194-71C>G n.559C>G c.5124C>G (p.His1708Gln) c.5079C>G (p.His1693Gln) c.1316-71C>G n.480C>G n.551C>G c.5151C>G (p.His1717Gln) c.4203C>G (p.His1401Gln) c.5379C>G (p.His1793Gln) c.5268C>G (p.His1756Gln) c.5190C>G (p.His1730Gln) c.4842C>G (p.His1614Gln) c.4467C>G (p.His1489Gln) c.5274C>G (p.His1758Gln) c.5376C>G (p.His1792Gln) c.5319C>G (p.His1773Gln) c.5295C>G (p.His1765Gln) c.5250C>G (p.His1750Gln) | |
3 | g.53801141C>T | CA74859849 | CACNA1D | c.5184C>T (p.His1728=) n.2194-71C>T n.559C>T c.5124C>T (p.His1708=) c.5079C>T (p.His1693=) c.1316-71C>T n.480C>T n.551C>T c.5151C>T (p.His1717=) c.4203C>T (p.His1401=) c.5379C>T (p.His1793=) c.5268C>T (p.His1756=) c.5190C>T (p.His1730=) c.4842C>T (p.His1614=) c.4467C>T (p.His1489=) c.5274C>T (p.His1758=) c.5376C>T (p.His1792=) c.5319C>T (p.His1773=) c.5295C>T (p.His1765=) c.5250C>T (p.His1750=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.53801142C>A | CA353250003 | CACNA1D | c.5185C>A (p.Arg1729Ser) n.2194-70C>A n.560C>A c.5125C>A (p.Arg1709Ser) c.5080C>A (p.Arg1694Ser) c.1316-70C>A n.481C>A n.552C>A c.5152C>A (p.Arg1718Ser) c.4204C>A (p.Arg1402Ser) c.5380C>A (p.Arg1794Ser) c.5269C>A (p.Arg1757Ser) c.5191C>A (p.Arg1731Ser) c.4843C>A (p.Arg1615Ser) c.4468C>A (p.Arg1490Ser) c.5275C>A (p.Arg1759Ser) c.5377C>A (p.Arg1793Ser) c.5320C>A (p.Arg1774Ser) c.5296C>A (p.Arg1766Ser) c.5251C>A (p.Arg1751Ser) | |
3 | g.53801142C= | CA1365484154 | CACNA1D | c.5185C= (p.Arg1729=) n.2194-70C= n.560C= c.5125C= (p.Arg1709=) c.5080C= (p.Arg1694=) c.1316-70C= n.481C= n.552C= c.5152C= (p.Arg1718=) c.4204C= (p.Arg1402=) c.5380C= (p.Arg1794=) c.5269C= (p.Arg1757=) c.5191C= (p.Arg1731=) c.4843C= (p.Arg1615=) c.4468C= (p.Arg1490=) c.5275C= (p.Arg1759=) c.5377C= (p.Arg1793=) c.5320C= (p.Arg1774=) c.5296C= (p.Arg1766=) c.5251C= (p.Arg1751=) | |
3 | g.53801142C>G | CA353250005 | CACNA1D | c.5185C>G (p.Arg1729Gly) n.2194-70C>G n.560C>G c.5125C>G (p.Arg1709Gly) c.5080C>G (p.Arg1694Gly) c.1316-70C>G n.481C>G n.552C>G c.5152C>G (p.Arg1718Gly) c.4204C>G (p.Arg1402Gly) c.5380C>G (p.Arg1794Gly) c.5269C>G (p.Arg1757Gly) c.5191C>G (p.Arg1731Gly) c.4843C>G (p.Arg1615Gly) c.4468C>G (p.Arg1490Gly) c.5275C>G (p.Arg1759Gly) c.5377C>G (p.Arg1793Gly) c.5320C>G (p.Arg1774Gly) c.5296C>G (p.Arg1766Gly) c.5251C>G (p.Arg1751Gly) | |
3 | g.53801142C>T | CA2455082 | CACNA1D | c.5185C>T (p.Arg1729Cys) n.2194-70C>T n.560C>T c.5125C>T (p.Arg1709Cys) c.5080C>T (p.Arg1694Cys) c.1316-70C>T n.481C>T n.552C>T c.5152C>T (p.Arg1718Cys) c.4204C>T (p.Arg1402Cys) c.5380C>T (p.Arg1794Cys) c.5269C>T (p.Arg1757Cys) c.5191C>T (p.Arg1731Cys) c.4843C>T (p.Arg1615Cys) c.4468C>T (p.Arg1490Cys) c.5275C>T (p.Arg1759Cys) c.5377C>T (p.Arg1793Cys) c.5320C>T (p.Arg1774Cys) c.5296C>T (p.Arg1766Cys) c.5251C>T (p.Arg1751Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.53801143G>A | CA2455083 | CACNA1D | c.5186G>A (p.Arg1729His) n.2194-69G>A n.561G>A c.5126G>A (p.Arg1709His) c.5081G>A (p.Arg1694His) c.1316-69G>A n.482G>A n.553G>A c.5153G>A (p.Arg1718His) c.4205G>A (p.Arg1402His) c.5381G>A (p.Arg1794His) c.5270G>A (p.Arg1757His) c.5192G>A (p.Arg1731His) c.4844G>A (p.Arg1615His) c.4469G>A (p.Arg1490His) c.5276G>A (p.Arg1759His) c.5378G>A (p.Arg1793His) c.5321G>A (p.Arg1774His) c.5297G>A (p.Arg1766His) c.5252G>A (p.Arg1751His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.53801143G>C | CA353250009 | CACNA1D | c.5186G>C (p.Arg1729Pro) n.2194-69G>C n.561G>C c.5126G>C (p.Arg1709Pro) c.5081G>C (p.Arg1694Pro) c.1316-69G>C n.482G>C n.553G>C c.5153G>C (p.Arg1718Pro) c.4205G>C (p.Arg1402Pro) c.5381G>C (p.Arg1794Pro) c.5270G>C (p.Arg1757Pro) c.5192G>C (p.Arg1731Pro) c.4844G>C (p.Arg1615Pro) c.4469G>C (p.Arg1490Pro) c.5276G>C (p.Arg1759Pro) c.5378G>C (p.Arg1793Pro) c.5321G>C (p.Arg1774Pro) c.5297G>C (p.Arg1766Pro) c.5252G>C (p.Arg1751Pro) | |
3 | g.53801143G= | CA1365484155 | CACNA1D | c.5186G= (p.Arg1729=) n.2194-69G= n.561G= c.5126G= (p.Arg1709=) c.5081G= (p.Arg1694=) c.1316-69G= n.482G= n.553G= c.5153G= (p.Arg1718=) c.4205G= (p.Arg1402=) c.5381G= (p.Arg1794=) c.5270G= (p.Arg1757=) c.5192G= (p.Arg1731=) c.4844G= (p.Arg1615=) c.4469G= (p.Arg1490=) c.5276G= (p.Arg1759=) c.5378G= (p.Arg1793=) c.5321G= (p.Arg1774=) c.5297G= (p.Arg1766=) c.5252G= (p.Arg1751=) | |
3 | g.53801143G>T | CA353250010 | CACNA1D | c.5186G>T (p.Arg1729Leu) n.2194-69G>T n.561G>T c.5126G>T (p.Arg1709Leu) c.5081G>T (p.Arg1694Leu) c.1316-69G>T n.482G>T n.553G>T c.5153G>T (p.Arg1718Leu) c.4205G>T (p.Arg1402Leu) c.5381G>T (p.Arg1794Leu) c.5270G>T (p.Arg1757Leu) c.5192G>T (p.Arg1731Leu) c.4844G>T (p.Arg1615Leu) c.4469G>T (p.Arg1490Leu) c.5276G>T (p.Arg1759Leu) c.5378G>T (p.Arg1793Leu) c.5321G>T (p.Arg1774Leu) c.5297G>T (p.Arg1766Leu) c.5252G>T (p.Arg1751Leu) | |
3 | g.53801144T>A | CA433895872 | CACNA1D | c.5187T>A (p.Arg1729=) n.2194-68T>A n.562T>A c.5127T>A (p.Arg1709=) c.5082T>A (p.Arg1694=) c.1316-68T>A n.483T>A n.554T>A c.5154T>A (p.Arg1718=) c.4206T>A (p.Arg1402=) c.5382T>A (p.Arg1794=) c.5271T>A (p.Arg1757=) c.5193T>A (p.Arg1731=) c.4845T>A (p.Arg1615=) c.4470T>A (p.Arg1490=) c.5277T>A (p.Arg1759=) c.5379T>A (p.Arg1793=) c.5322T>A (p.Arg1774=) c.5298T>A (p.Arg1766=) c.5253T>A (p.Arg1751=) | |
3 | g.53801144T>C | CA433895874 | CACNA1D | c.5187T>C (p.Arg1729=) n.2194-68T>C n.562T>C c.5127T>C (p.Arg1709=) c.5082T>C (p.Arg1694=) c.1316-68T>C n.483T>C n.554T>C c.5154T>C (p.Arg1718=) c.4206T>C (p.Arg1402=) c.5382T>C (p.Arg1794=) c.5271T>C (p.Arg1757=) c.5193T>C (p.Arg1731=) c.4845T>C (p.Arg1615=) c.4470T>C (p.Arg1490=) c.5277T>C (p.Arg1759=) c.5379T>C (p.Arg1793=) c.5322T>C (p.Arg1774=) c.5298T>C (p.Arg1766=) c.5253T>C (p.Arg1751=) | ClinVar |
3 | g.53801144T>G | CA433895873 | CACNA1D | c.5187T>G (p.Arg1729=) n.2194-68T>G n.562T>G c.5127T>G (p.Arg1709=) c.5082T>G (p.Arg1694=) c.1316-68T>G n.483T>G n.554T>G c.5154T>G (p.Arg1718=) c.4206T>G (p.Arg1402=) c.5382T>G (p.Arg1794=) c.5271T>G (p.Arg1757=) c.5193T>G (p.Arg1731=) c.4845T>G (p.Arg1615=) c.4470T>G (p.Arg1490=) c.5277T>G (p.Arg1759=) c.5379T>G (p.Arg1793=) c.5322T>G (p.Arg1774=) c.5298T>G (p.Arg1766=) c.5253T>G (p.Arg1751=) | |
3 | g.53801145C>A | CA353250012 | CACNA1D | c.5188C>A (p.Pro1730Thr) n.2194-67C>A n.563C>A c.5128C>A (p.Pro1710Thr) c.5083C>A (p.Pro1695Thr) c.1316-67C>A n.484C>A n.555C>A c.5155C>A (p.Pro1719Thr) c.4207C>A (p.Pro1403Thr) c.5383C>A (p.Pro1795Thr) c.5272C>A (p.Pro1758Thr) c.5194C>A (p.Pro1732Thr) c.4846C>A (p.Pro1616Thr) c.4471C>A (p.Pro1491Thr) c.5278C>A (p.Pro1760Thr) c.5380C>A (p.Pro1794Thr) c.5323C>A (p.Pro1775Thr) c.5299C>A (p.Pro1767Thr) c.5254C>A (p.Pro1752Thr) | |
3 | g.53801145C>G | CA353250015 | CACNA1D | c.5188C>G (p.Pro1730Ala) n.2194-67C>G n.563C>G c.5128C>G (p.Pro1710Ala) c.5083C>G (p.Pro1695Ala) c.1316-67C>G n.484C>G n.555C>G c.5155C>G (p.Pro1719Ala) c.4207C>G (p.Pro1403Ala) c.5383C>G (p.Pro1795Ala) c.5272C>G (p.Pro1758Ala) c.5194C>G (p.Pro1732Ala) c.4846C>G (p.Pro1616Ala) c.4471C>G (p.Pro1491Ala) c.5278C>G (p.Pro1760Ala) c.5380C>G (p.Pro1794Ala) c.5323C>G (p.Pro1775Ala) c.5299C>G (p.Pro1767Ala) c.5254C>G (p.Pro1752Ala) | |
3 | g.53801145C>T | CA353250017 | CACNA1D | c.5188C>T (p.Pro1730Ser) n.2194-67C>T n.563C>T c.5128C>T (p.Pro1710Ser) c.5083C>T (p.Pro1695Ser) c.1316-67C>T n.484C>T n.555C>T c.5155C>T (p.Pro1719Ser) c.4207C>T (p.Pro1403Ser) c.5383C>T (p.Pro1795Ser) c.5272C>T (p.Pro1758Ser) c.5194C>T (p.Pro1732Ser) c.4846C>T (p.Pro1616Ser) c.4471C>T (p.Pro1491Ser) c.5278C>T (p.Pro1760Ser) c.5380C>T (p.Pro1794Ser) c.5323C>T (p.Pro1775Ser) c.5299C>T (p.Pro1767Ser) c.5254C>T (p.Pro1752Ser) | |
3 | g.53801146C>A | CA353250020 | CACNA1D | c.5189C>A (p.Pro1730His) n.2194-66C>A n.564C>A c.5129C>A (p.Pro1710His) c.5084C>A (p.Pro1695His) c.1316-66C>A n.485C>A n.556C>A c.5156C>A (p.Pro1719His) c.4208C>A (p.Pro1403His) c.5384C>A (p.Pro1795His) c.5273C>A (p.Pro1758His) c.5195C>A (p.Pro1732His) c.4847C>A (p.Pro1616His) c.4472C>A (p.Pro1491His) c.5279C>A (p.Pro1760His) c.5381C>A (p.Pro1794His) c.5324C>A (p.Pro1775His) c.5300C>A (p.Pro1767His) c.5255C>A (p.Pro1752His) | |
3 | g.53801146C>G | CA353250022 | CACNA1D | c.5189C>G (p.Pro1730Arg) n.2194-66C>G n.564C>G c.5129C>G (p.Pro1710Arg) c.5084C>G (p.Pro1695Arg) c.1316-66C>G n.485C>G n.556C>G c.5156C>G (p.Pro1719Arg) c.4208C>G (p.Pro1403Arg) c.5384C>G (p.Pro1795Arg) c.5273C>G (p.Pro1758Arg) c.5195C>G (p.Pro1732Arg) c.4847C>G (p.Pro1616Arg) c.4472C>G (p.Pro1491Arg) c.5279C>G (p.Pro1760Arg) c.5381C>G (p.Pro1794Arg) c.5324C>G (p.Pro1775Arg) c.5300C>G (p.Pro1767Arg) c.5255C>G (p.Pro1752Arg) | |
3 | g.53801146C>T | CA353250024 | CACNA1D | c.5189C>T (p.Pro1730Leu) n.2194-66C>T n.564C>T c.5129C>T (p.Pro1710Leu) c.5084C>T (p.Pro1695Leu) c.1316-66C>T n.485C>T n.556C>T c.5156C>T (p.Pro1719Leu) c.4208C>T (p.Pro1403Leu) c.5384C>T (p.Pro1795Leu) c.5273C>T (p.Pro1758Leu) c.5195C>T (p.Pro1732Leu) c.4847C>T (p.Pro1616Leu) c.4472C>T (p.Pro1491Leu) c.5279C>T (p.Pro1760Leu) c.5381C>T (p.Pro1794Leu) c.5324C>T (p.Pro1775Leu) c.5300C>T (p.Pro1767Leu) c.5255C>T (p.Pro1752Leu) | COSMIC COSMIC |
3 | g.53801147C>A | CA433895877 | CACNA1D | c.5190C>A (p.Pro1730=) n.2194-65C>A n.565C>A c.5130C>A (p.Pro1710=) c.5085C>A (p.Pro1695=) c.1316-65C>A n.486C>A n.557C>A c.5157C>A (p.Pro1719=) c.4209C>A (p.Pro1403=) c.5385C>A (p.Pro1795=) c.5274C>A (p.Pro1758=) c.5196C>A (p.Pro1732=) c.4848C>A (p.Pro1616=) c.4473C>A (p.Pro1491=) c.5280C>A (p.Pro1760=) c.5382C>A (p.Pro1794=) c.5325C>A (p.Pro1775=) c.5301C>A (p.Pro1767=) c.5256C>A (p.Pro1752=) | |
3 | g.53801147C>G | CA433895879 | CACNA1D | c.5190C>G (p.Pro1730=) n.2194-65C>G n.565C>G c.5130C>G (p.Pro1710=) c.5085C>G (p.Pro1695=) c.1316-65C>G n.486C>G n.557C>G c.5157C>G (p.Pro1719=) c.4209C>G (p.Pro1403=) c.5385C>G (p.Pro1795=) c.5274C>G (p.Pro1758=) c.5196C>G (p.Pro1732=) c.4848C>G (p.Pro1616=) c.4473C>G (p.Pro1491=) c.5280C>G (p.Pro1760=) c.5382C>G (p.Pro1794=) c.5325C>G (p.Pro1775=) c.5301C>G (p.Pro1767=) c.5256C>G (p.Pro1752=) | |
3 | g.53801147C>T | CA433895880 | CACNA1D | c.5190C>T (p.Pro1730=) n.2194-65C>T n.565C>T c.5130C>T (p.Pro1710=) c.5085C>T (p.Pro1695=) c.1316-65C>T n.486C>T n.557C>T c.5157C>T (p.Pro1719=) c.4209C>T (p.Pro1403=) c.5385C>T (p.Pro1795=) c.5274C>T (p.Pro1758=) c.5196C>T (p.Pro1732=) c.4848C>T (p.Pro1616=) c.4473C>T (p.Pro1491=) c.5280C>T (p.Pro1760=) c.5382C>T (p.Pro1794=) c.5325C>T (p.Pro1775=) c.5301C>T (p.Pro1767=) c.5256C>T (p.Pro1752=) | |
3 | g.53801148C>A | CA353250028 | CACNA1D | c.5191C>A (p.Leu1731Met) n.2194-64C>A n.566C>A c.5131C>A (p.Leu1711Met) c.5086C>A (p.Leu1696Met) c.1316-64C>A n.487C>A n.558C>A c.5158C>A (p.Leu1720Met) c.4210C>A (p.Leu1404Met) c.5386C>A (p.Leu1796Met) c.5275C>A (p.Leu1759Met) c.5197C>A (p.Leu1733Met) c.4849C>A (p.Leu1617Met) c.4474C>A (p.Leu1492Met) c.5281C>A (p.Leu1761Met) c.5383C>A (p.Leu1795Met) c.5326C>A (p.Leu1776Met) c.5302C>A (p.Leu1768Met) c.5257C>A (p.Leu1753Met) | |
3 | g.53801148C>G | CA353250026 | CACNA1D | c.5191C>G (p.Leu1731Val) n.2194-64C>G n.566C>G c.5131C>G (p.Leu1711Val) c.5086C>G (p.Leu1696Val) c.1316-64C>G n.487C>G n.558C>G c.5158C>G (p.Leu1720Val) c.4210C>G (p.Leu1404Val) c.5386C>G (p.Leu1796Val) c.5275C>G (p.Leu1759Val) c.5197C>G (p.Leu1733Val) c.4849C>G (p.Leu1617Val) c.4474C>G (p.Leu1492Val) c.5281C>G (p.Leu1761Val) c.5383C>G (p.Leu1795Val) c.5326C>G (p.Leu1776Val) c.5302C>G (p.Leu1768Val) c.5257C>G (p.Leu1753Val) | gnomAD v4 |
3 | g.53801148C>T | CA433895881 | CACNA1D | c.5191C>T (p.Leu1731=) n.2194-64C>T n.566C>T c.5131C>T (p.Leu1711=) c.5086C>T (p.Leu1696=) c.1316-64C>T n.487C>T n.558C>T c.5158C>T (p.Leu1720=) c.4210C>T (p.Leu1404=) c.5386C>T (p.Leu1796=) c.5275C>T (p.Leu1759=) c.5197C>T (p.Leu1733=) c.4849C>T (p.Leu1617=) c.4474C>T (p.Leu1492=) c.5281C>T (p.Leu1761=) c.5383C>T (p.Leu1795=) c.5326C>T (p.Leu1776=) c.5302C>T (p.Leu1768=) c.5257C>T (p.Leu1753=) | gnomAD v4 |
3 | g.53801149T>A | CA353250030 | CACNA1D | c.5192T>A (p.Leu1731Gln) n.2194-63T>A n.567T>A c.5132T>A (p.Leu1711Gln) c.5087T>A (p.Leu1696Gln) c.1316-63T>A n.488T>A n.559T>A c.5159T>A (p.Leu1720Gln) c.4211T>A (p.Leu1404Gln) c.5387T>A (p.Leu1796Gln) c.5276T>A (p.Leu1759Gln) c.5198T>A (p.Leu1733Gln) c.4850T>A (p.Leu1617Gln) c.4475T>A (p.Leu1492Gln) c.5282T>A (p.Leu1761Gln) c.5384T>A (p.Leu1795Gln) c.5327T>A (p.Leu1776Gln) c.5303T>A (p.Leu1768Gln) c.5258T>A (p.Leu1753Gln) | |
3 | g.53801149T>C | CA353250031 | CACNA1D | c.5192T>C (p.Leu1731Pro) n.2194-63T>C n.567T>C c.5132T>C (p.Leu1711Pro) c.5087T>C (p.Leu1696Pro) c.1316-63T>C n.488T>C n.559T>C c.5159T>C (p.Leu1720Pro) c.4211T>C (p.Leu1404Pro) c.5387T>C (p.Leu1796Pro) c.5276T>C (p.Leu1759Pro) c.5198T>C (p.Leu1733Pro) c.4850T>C (p.Leu1617Pro) c.4475T>C (p.Leu1492Pro) c.5282T>C (p.Leu1761Pro) c.5384T>C (p.Leu1795Pro) c.5327T>C (p.Leu1776Pro) c.5303T>C (p.Leu1768Pro) c.5258T>C (p.Leu1753Pro) | |
3 | g.53801149T>G | CA353250033 | CACNA1D | c.5192T>G (p.Leu1731Arg) n.2194-63T>G n.567T>G c.5132T>G (p.Leu1711Arg) c.5087T>G (p.Leu1696Arg) c.1316-63T>G n.488T>G n.559T>G c.5159T>G (p.Leu1720Arg) c.4211T>G (p.Leu1404Arg) c.5387T>G (p.Leu1796Arg) c.5276T>G (p.Leu1759Arg) c.5198T>G (p.Leu1733Arg) c.4850T>G (p.Leu1617Arg) c.4475T>G (p.Leu1492Arg) c.5282T>G (p.Leu1761Arg) c.5384T>G (p.Leu1795Arg) c.5327T>G (p.Leu1776Arg) c.5303T>G (p.Leu1768Arg) c.5258T>G (p.Leu1753Arg) | |
3 | g.53801150G>A | CA433895883 | CACNA1D | c.5193G>A (p.Leu1731=) n.2194-62G>A n.568G>A c.5133G>A (p.Leu1711=) c.5088G>A (p.Leu1696=) c.1316-62G>A n.489G>A n.560G>A c.5160G>A (p.Leu1720=) c.4212G>A (p.Leu1404=) c.5388G>A (p.Leu1796=) c.5277G>A (p.Leu1759=) c.5199G>A (p.Leu1733=) c.4851G>A (p.Leu1617=) c.4476G>A (p.Leu1492=) c.5283G>A (p.Leu1761=) c.5385G>A (p.Leu1795=) c.5328G>A (p.Leu1776=) c.5304G>A (p.Leu1768=) c.5259G>A (p.Leu1753=) | COSMIC |
3 | g.53801150G>C | CA433895885 | CACNA1D | c.5193G>C (p.Leu1731=) n.2194-62G>C n.568G>C c.5133G>C (p.Leu1711=) c.5088G>C (p.Leu1696=) c.1316-62G>C n.489G>C n.560G>C c.5160G>C (p.Leu1720=) c.4212G>C (p.Leu1404=) c.5388G>C (p.Leu1796=) c.5277G>C (p.Leu1759=) c.5199G>C (p.Leu1733=) c.4851G>C (p.Leu1617=) c.4476G>C (p.Leu1492=) c.5283G>C (p.Leu1761=) c.5385G>C (p.Leu1795=) c.5328G>C (p.Leu1776=) c.5304G>C (p.Leu1768=) c.5259G>C (p.Leu1753=) | |
3 | g.53801150G>T | CA433895887 | CACNA1D | c.5193G>T (p.Leu1731=) n.2194-62G>T n.568G>T c.5133G>T (p.Leu1711=) c.5088G>T (p.Leu1696=) c.1316-62G>T n.489G>T n.560G>T c.5160G>T (p.Leu1720=) c.4212G>T (p.Leu1404=) c.5388G>T (p.Leu1796=) c.5277G>T (p.Leu1759=) c.5199G>T (p.Leu1733=) c.4851G>T (p.Leu1617=) c.4476G>T (p.Leu1492=) c.5283G>T (p.Leu1761=) c.5385G>T (p.Leu1795=) c.5328G>T (p.Leu1776=) c.5304G>T (p.Leu1768=) c.5259G>T (p.Leu1753=) | |
3 | g.53801151C>A | CA353250034 | CACNA1D | c.5194C>A (p.His1732Asn) n.2194-61C>A n.569C>A c.5134C>A (p.His1712Asn) c.5089C>A (p.His1697Asn) c.1316-61C>A n.490C>A n.561C>A c.5161C>A (p.His1721Asn) c.4213C>A (p.His1405Asn) c.5389C>A (p.His1797Asn) c.5278C>A (p.His1760Asn) c.5200C>A (p.His1734Asn) c.4852C>A (p.His1618Asn) c.4477C>A (p.His1493Asn) c.5284C>A (p.His1762Asn) c.5386C>A (p.His1796Asn) c.5329C>A (p.His1777Asn) c.5305C>A (p.His1769Asn) c.5260C>A (p.His1754Asn) | |
3 | g.53801151C>G | CA353250036 | CACNA1D | c.5194C>G (p.His1732Asp) n.2194-61C>G n.569C>G c.5134C>G (p.His1712Asp) c.5089C>G (p.His1697Asp) c.1316-61C>G n.490C>G n.561C>G c.5161C>G (p.His1721Asp) c.4213C>G (p.His1405Asp) c.5389C>G (p.His1797Asp) c.5278C>G (p.His1760Asp) c.5200C>G (p.His1734Asp) c.4852C>G (p.His1618Asp) c.4477C>G (p.His1493Asp) c.5284C>G (p.His1762Asp) c.5386C>G (p.His1796Asp) c.5329C>G (p.His1777Asp) c.5305C>G (p.His1769Asp) c.5260C>G (p.His1754Asp) | |
3 | g.53801151C>T | CA353250039 | CACNA1D | c.5194C>T (p.His1732Tyr) n.2194-61C>T n.569C>T c.5134C>T (p.His1712Tyr) c.5089C>T (p.His1697Tyr) c.1316-61C>T n.490C>T n.561C>T c.5161C>T (p.His1721Tyr) c.4213C>T (p.His1405Tyr) c.5389C>T (p.His1797Tyr) c.5278C>T (p.His1760Tyr) c.5200C>T (p.His1734Tyr) c.4852C>T (p.His1618Tyr) c.4477C>T (p.His1493Tyr) c.5284C>T (p.His1762Tyr) c.5386C>T (p.His1796Tyr) c.5329C>T (p.His1777Tyr) c.5305C>T (p.His1769Tyr) c.5260C>T (p.His1754Tyr) | gnomAD v4 |
3 | g.53801152A>C | CA353250051 | CACNA1D | c.5195A>C (p.His1732Pro) n.2194-60A>C n.570A>C c.5135A>C (p.His1712Pro) c.5090A>C (p.His1697Pro) c.1316-60A>C n.491A>C n.562A>C c.5162A>C (p.His1721Pro) c.4214A>C (p.His1405Pro) c.5390A>C (p.His1797Pro) c.5279A>C (p.His1760Pro) c.5201A>C (p.His1734Pro) c.4853A>C (p.His1618Pro) c.4478A>C (p.His1493Pro) c.5285A>C (p.His1762Pro) c.5387A>C (p.His1796Pro) c.5330A>C (p.His1777Pro) c.5306A>C (p.His1769Pro) c.5261A>C (p.His1754Pro) | |
3 | g.53801152A>G | CA353250042 | CACNA1D | c.5195A>G (p.His1732Arg) n.2194-60A>G n.570A>G c.5135A>G (p.His1712Arg) c.5090A>G (p.His1697Arg) c.1316-60A>G n.491A>G n.562A>G c.5162A>G (p.His1721Arg) c.4214A>G (p.His1405Arg) c.5390A>G (p.His1797Arg) c.5279A>G (p.His1760Arg) c.5201A>G (p.His1734Arg) c.4853A>G (p.His1618Arg) c.4478A>G (p.His1493Arg) c.5285A>G (p.His1762Arg) c.5387A>G (p.His1796Arg) c.5330A>G (p.His1777Arg) c.5306A>G (p.His1769Arg) c.5261A>G (p.His1754Arg) | ClinVar gnomAD v4 |
3 | g.53801152A>T | CA353250050 | CACNA1D | c.5195A>T (p.His1732Leu) n.2194-60A>T n.570A>T c.5135A>T (p.His1712Leu) c.5090A>T (p.His1697Leu) c.1316-60A>T n.491A>T n.562A>T c.5162A>T (p.His1721Leu) c.4214A>T (p.His1405Leu) c.5390A>T (p.His1797Leu) c.5279A>T (p.His1760Leu) c.5201A>T (p.His1734Leu) c.4853A>T (p.His1618Leu) c.4478A>T (p.His1493Leu) c.5285A>T (p.His1762Leu) c.5387A>T (p.His1796Leu) c.5330A>T (p.His1777Leu) c.5306A>T (p.His1769Leu) c.5261A>T (p.His1754Leu) | |
3 | g.53801153T>A | CA353250052 | CACNA1D | c.5196T>A (p.His1732Gln) n.2194-59T>A n.571T>A c.5136T>A (p.His1712Gln) c.5091T>A (p.His1697Gln) c.1316-59T>A n.492T>A n.563T>A c.5163T>A (p.His1721Gln) c.4215T>A (p.His1405Gln) c.5391T>A (p.His1797Gln) c.5280T>A (p.His1760Gln) c.5202T>A (p.His1734Gln) c.4854T>A (p.His1618Gln) c.4479T>A (p.His1493Gln) c.5286T>A (p.His1762Gln) c.5388T>A (p.His1796Gln) c.5331T>A (p.His1777Gln) c.5307T>A (p.His1769Gln) c.5262T>A (p.His1754Gln) | |
3 | g.53801153T>C | CA433895891 | CACNA1D | c.5196T>C (p.His1732=) n.2194-59T>C n.571T>C c.5136T>C (p.His1712=) c.5091T>C (p.His1697=) c.1316-59T>C n.492T>C n.563T>C c.5163T>C (p.His1721=) c.4215T>C (p.His1405=) c.5391T>C (p.His1797=) c.5280T>C (p.His1760=) c.5202T>C (p.His1734=) c.4854T>C (p.His1618=) c.4479T>C (p.His1493=) c.5286T>C (p.His1762=) c.5388T>C (p.His1796=) c.5331T>C (p.His1777=) c.5307T>C (p.His1769=) c.5262T>C (p.His1754=) | |
3 | g.53801153T>G | CA353250054 | CACNA1D | c.5196T>G (p.His1732Gln) n.2194-59T>G n.571T>G c.5136T>G (p.His1712Gln) c.5091T>G (p.His1697Gln) c.1316-59T>G n.492T>G n.563T>G c.5163T>G (p.His1721Gln) c.4215T>G (p.His1405Gln) c.5391T>G (p.His1797Gln) c.5280T>G (p.His1760Gln) c.5202T>G (p.His1734Gln) c.4854T>G (p.His1618Gln) c.4479T>G (p.His1493Gln) c.5286T>G (p.His1762Gln) c.5388T>G (p.His1796Gln) c.5331T>G (p.His1777Gln) c.5307T>G (p.His1769Gln) c.5262T>G (p.His1754Gln) | |
3 | g.53801154G>A | CA353250058 | CACNA1D | c.5197G>A (p.Val1733Ile) n.2194-58G>A n.572G>A c.5137G>A (p.Val1713Ile) c.5092G>A (p.Val1698Ile) c.1316-58G>A n.493G>A n.564G>A c.5164G>A (p.Val1722Ile) c.4216G>A (p.Val1406Ile) c.5392G>A (p.Val1798Ile) c.5281G>A (p.Val1761Ile) c.5203G>A (p.Val1735Ile) c.4855G>A (p.Val1619Ile) c.4480G>A (p.Val1494Ile) c.5287G>A (p.Val1763Ile) c.5389G>A (p.Val1797Ile) c.5332G>A (p.Val1778Ile) c.5308G>A (p.Val1770Ile) c.5263G>A (p.Val1755Ile) | |
3 | g.53801154G>C | CA353250060 | CACNA1D | c.5197G>C (p.Val1733Leu) n.2194-58G>C n.572G>C c.5137G>C (p.Val1713Leu) c.5092G>C (p.Val1698Leu) c.1316-58G>C n.493G>C n.564G>C c.5164G>C (p.Val1722Leu) c.4216G>C (p.Val1406Leu) c.5392G>C (p.Val1798Leu) c.5281G>C (p.Val1761Leu) c.5203G>C (p.Val1735Leu) c.4855G>C (p.Val1619Leu) c.4480G>C (p.Val1494Leu) c.5287G>C (p.Val1763Leu) c.5389G>C (p.Val1797Leu) c.5332G>C (p.Val1778Leu) c.5308G>C (p.Val1770Leu) c.5263G>C (p.Val1755Leu) | |
3 | g.53801154G>T | CA353250062 | CACNA1D | c.5197G>T (p.Val1733Phe) n.2194-58G>T n.572G>T c.5137G>T (p.Val1713Phe) c.5092G>T (p.Val1698Phe) c.1316-58G>T n.493G>T n.564G>T c.5164G>T (p.Val1722Phe) c.4216G>T (p.Val1406Phe) c.5392G>T (p.Val1798Phe) c.5281G>T (p.Val1761Phe) c.5203G>T (p.Val1735Phe) c.4855G>T (p.Val1619Phe) c.4480G>T (p.Val1494Phe) c.5287G>T (p.Val1763Phe) c.5389G>T (p.Val1797Phe) c.5332G>T (p.Val1778Phe) c.5308G>T (p.Val1770Phe) c.5263G>T (p.Val1755Phe) | |
3 | g.53801155T>A | CA353250064 | CACNA1D | c.5198T>A (p.Val1733Asp) n.2194-57T>A n.573T>A c.5138T>A (p.Val1713Asp) c.5093T>A (p.Val1698Asp) c.1316-57T>A n.494T>A n.565T>A c.5165T>A (p.Val1722Asp) c.4217T>A (p.Val1406Asp) c.5393T>A (p.Val1798Asp) c.5282T>A (p.Val1761Asp) c.5204T>A (p.Val1735Asp) c.4856T>A (p.Val1619Asp) c.4481T>A (p.Val1494Asp) c.5288T>A (p.Val1763Asp) c.5390T>A (p.Val1797Asp) c.5333T>A (p.Val1778Asp) c.5309T>A (p.Val1770Asp) c.5264T>A (p.Val1755Asp) | |
3 | g.53801155T>C | CA353250068 | CACNA1D | c.5198T>C (p.Val1733Ala) n.2194-57T>C n.573T>C c.5138T>C (p.Val1713Ala) c.5093T>C (p.Val1698Ala) c.1316-57T>C n.494T>C n.565T>C c.5165T>C (p.Val1722Ala) c.4217T>C (p.Val1406Ala) c.5393T>C (p.Val1798Ala) c.5282T>C (p.Val1761Ala) c.5204T>C (p.Val1735Ala) c.4856T>C (p.Val1619Ala) c.4481T>C (p.Val1494Ala) c.5288T>C (p.Val1763Ala) c.5390T>C (p.Val1797Ala) c.5333T>C (p.Val1778Ala) c.5309T>C (p.Val1770Ala) c.5264T>C (p.Val1755Ala) | |
3 | g.53801155T>G | CA353250067 | CACNA1D | c.5198T>G (p.Val1733Gly) n.2194-57T>G n.573T>G c.5138T>G (p.Val1713Gly) c.5093T>G (p.Val1698Gly) c.1316-57T>G n.494T>G n.565T>G c.5165T>G (p.Val1722Gly) c.4217T>G (p.Val1406Gly) c.5393T>G (p.Val1798Gly) c.5282T>G (p.Val1761Gly) c.5204T>G (p.Val1735Gly) c.4856T>G (p.Val1619Gly) c.4481T>G (p.Val1494Gly) c.5288T>G (p.Val1763Gly) c.5390T>G (p.Val1797Gly) c.5333T>G (p.Val1778Gly) c.5309T>G (p.Val1770Gly) c.5264T>G (p.Val1755Gly) | |
3 | g.53801156C>A | CA433895899 | CACNA1D | c.5199C>A (p.Val1733=) n.2194-56C>A n.574C>A c.5139C>A (p.Val1713=) c.5094C>A (p.Val1698=) c.1316-56C>A n.495C>A n.566C>A c.5166C>A (p.Val1722=) c.4218C>A (p.Val1406=) c.5394C>A (p.Val1798=) c.5283C>A (p.Val1761=) c.5205C>A (p.Val1735=) c.4857C>A (p.Val1619=) c.4482C>A (p.Val1494=) c.5289C>A (p.Val1763=) c.5391C>A (p.Val1797=) c.5334C>A (p.Val1778=) c.5310C>A (p.Val1770=) c.5265C>A (p.Val1755=) | |
3 | g.53801156C>G | CA433895900 | CACNA1D | c.5199C>G (p.Val1733=) n.2194-56C>G n.574C>G c.5139C>G (p.Val1713=) c.5094C>G (p.Val1698=) c.1316-56C>G n.495C>G n.566C>G c.5166C>G (p.Val1722=) c.4218C>G (p.Val1406=) c.5394C>G (p.Val1798=) c.5283C>G (p.Val1761=) c.5205C>G (p.Val1735=) c.4857C>G (p.Val1619=) c.4482C>G (p.Val1494=) c.5289C>G (p.Val1763=) c.5391C>G (p.Val1797=) c.5334C>G (p.Val1778=) c.5310C>G (p.Val1770=) c.5265C>G (p.Val1755=) | |
3 | g.53801156C>T | CA433895901 | CACNA1D | c.5199C>T (p.Val1733=) n.2194-56C>T n.574C>T c.5139C>T (p.Val1713=) c.5094C>T (p.Val1698=) c.1316-56C>T n.495C>T n.566C>T c.5166C>T (p.Val1722=) c.4218C>T (p.Val1406=) c.5394C>T (p.Val1798=) c.5283C>T (p.Val1761=) c.5205C>T (p.Val1735=) c.4857C>T (p.Val1619=) c.4482C>T (p.Val1494=) c.5289C>T (p.Val1763=) c.5391C>T (p.Val1797=) c.5334C>T (p.Val1778=) c.5310C>T (p.Val1770=) c.5265C>T (p.Val1755=) | ClinVar dbSNP |
3 | g.53801157C>A | CA353250070 | CACNA1D | c.5200C>A (p.Gln1734Lys) n.2194-55C>A n.575C>A c.5140C>A (p.Gln1714Lys) c.5095C>A (p.Gln1699Lys) c.1316-55C>A n.496C>A n.567C>A c.5167C>A (p.Gln1723Lys) c.4219C>A (p.Gln1407Lys) c.5395C>A (p.Gln1799Lys) c.5284C>A (p.Gln1762Lys) c.5206C>A (p.Gln1736Lys) c.4858C>A (p.Gln1620Lys) c.4483C>A (p.Gln1495Lys) c.5290C>A (p.Gln1764Lys) c.5392C>A (p.Gln1798Lys) c.5335C>A (p.Gln1779Lys) c.5311C>A (p.Gln1771Lys) c.5266C>A (p.Gln1756Lys) | |
3 | g.53801157C>G | CA353250073 | CACNA1D | c.5200C>G (p.Gln1734Glu) n.2194-55C>G n.575C>G c.5140C>G (p.Gln1714Glu) c.5095C>G (p.Gln1699Glu) c.1316-55C>G n.496C>G n.567C>G c.5167C>G (p.Gln1723Glu) c.4219C>G (p.Gln1407Glu) c.5395C>G (p.Gln1799Glu) c.5284C>G (p.Gln1762Glu) c.5206C>G (p.Gln1736Glu) c.4858C>G (p.Gln1620Glu) c.4483C>G (p.Gln1495Glu) c.5290C>G (p.Gln1764Glu) c.5392C>G (p.Gln1798Glu) c.5335C>G (p.Gln1779Glu) c.5311C>G (p.Gln1771Glu) c.5266C>G (p.Gln1756Glu) | |
3 | g.53801157C>T | CA353250075 | CACNA1D | c.5200C>T (p.Gln1734Ter) n.2194-55C>T n.575C>T c.5140C>T (p.Gln1714Ter) c.5095C>T (p.Gln1699Ter) c.1316-55C>T n.496C>T n.567C>T c.5167C>T (p.Gln1723Ter) c.4219C>T (p.Gln1407Ter) c.5395C>T (p.Gln1799Ter) c.5284C>T (p.Gln1762Ter) c.5206C>T (p.Gln1736Ter) c.4858C>T (p.Gln1620Ter) c.4483C>T (p.Gln1495Ter) c.5290C>T (p.Gln1764Ter) c.5392C>T (p.Gln1798Ter) c.5335C>T (p.Gln1779Ter) c.5311C>T (p.Gln1771Ter) c.5266C>T (p.Gln1756Ter) | |
3 | g.53801158A>C | CA353250077 | CACNA1D | c.5201A>C (p.Gln1734Pro) n.2194-54A>C n.576A>C c.5141A>C (p.Gln1714Pro) c.5096A>C (p.Gln1699Pro) c.1316-54A>C n.497A>C n.568A>C c.5168A>C (p.Gln1723Pro) c.4220A>C (p.Gln1407Pro) c.5396A>C (p.Gln1799Pro) c.5285A>C (p.Gln1762Pro) c.5207A>C (p.Gln1736Pro) c.4859A>C (p.Gln1620Pro) c.4484A>C (p.Gln1495Pro) c.5291A>C (p.Gln1764Pro) c.5393A>C (p.Gln1798Pro) c.5336A>C (p.Gln1779Pro) c.5312A>C (p.Gln1771Pro) c.5267A>C (p.Gln1756Pro) | |
3 | g.53801158A>G | CA353250080 | CACNA1D | c.5201A>G (p.Gln1734Arg) n.2194-54A>G n.576A>G c.5141A>G (p.Gln1714Arg) c.5096A>G (p.Gln1699Arg) c.1316-54A>G n.497A>G n.568A>G c.5168A>G (p.Gln1723Arg) c.4220A>G (p.Gln1407Arg) c.5396A>G (p.Gln1799Arg) c.5285A>G (p.Gln1762Arg) c.5207A>G (p.Gln1736Arg) c.4859A>G (p.Gln1620Arg) c.4484A>G (p.Gln1495Arg) c.5291A>G (p.Gln1764Arg) c.5393A>G (p.Gln1798Arg) c.5336A>G (p.Gln1779Arg) c.5312A>G (p.Gln1771Arg) c.5267A>G (p.Gln1756Arg) | |
3 | g.53801158A>T | CA353250082 | CACNA1D | c.5201A>T (p.Gln1734Leu) n.2194-54A>T n.576A>T c.5141A>T (p.Gln1714Leu) c.5096A>T (p.Gln1699Leu) c.1316-54A>T n.497A>T n.568A>T c.5168A>T (p.Gln1723Leu) c.4220A>T (p.Gln1407Leu) c.5396A>T (p.Gln1799Leu) c.5285A>T (p.Gln1762Leu) c.5207A>T (p.Gln1736Leu) c.4859A>T (p.Gln1620Leu) c.4484A>T (p.Gln1495Leu) c.5291A>T (p.Gln1764Leu) c.5393A>T (p.Gln1798Leu) c.5336A>T (p.Gln1779Leu) c.5312A>T (p.Gln1771Leu) c.5267A>T (p.Gln1756Leu) | |
3 | g.53801159A>C | CA353250085 | CACNA1D | c.5202A>C (p.Gln1734His) n.2194-53A>C n.577A>C c.5142A>C (p.Gln1714His) c.5097A>C (p.Gln1699His) c.1316-53A>C n.498A>C n.569A>C c.5169A>C (p.Gln1723His) c.4221A>C (p.Gln1407His) c.5397A>C (p.Gln1799His) c.5286A>C (p.Gln1762His) c.5208A>C (p.Gln1736His) c.4860A>C (p.Gln1620His) c.4485A>C (p.Gln1495His) c.5292A>C (p.Gln1764His) c.5394A>C (p.Gln1798His) c.5337A>C (p.Gln1779His) c.5313A>C (p.Gln1771His) c.5268A>C (p.Gln1756His) | |
3 | g.53801159A>G | CA433895911 | CACNA1D | c.5202A>G (p.Gln1734=) n.2194-53A>G n.577A>G c.5142A>G (p.Gln1714=) c.5097A>G (p.Gln1699=) c.1316-53A>G n.498A>G n.569A>G c.5169A>G (p.Gln1723=) c.4221A>G (p.Gln1407=) c.5397A>G (p.Gln1799=) c.5286A>G (p.Gln1762=) c.5208A>G (p.Gln1736=) c.4860A>G (p.Gln1620=) c.4485A>G (p.Gln1495=) c.5292A>G (p.Gln1764=) c.5394A>G (p.Gln1798=) c.5337A>G (p.Gln1779=) c.5313A>G (p.Gln1771=) c.5268A>G (p.Gln1756=) | gnomAD v4 |
3 | g.53801159A>T | CA353250087 | CACNA1D | c.5202A>T (p.Gln1734His) n.2194-53A>T n.577A>T c.5142A>T (p.Gln1714His) c.5097A>T (p.Gln1699His) c.1316-53A>T n.498A>T n.569A>T c.5169A>T (p.Gln1723His) c.4221A>T (p.Gln1407His) c.5397A>T (p.Gln1799His) c.5286A>T (p.Gln1762His) c.5208A>T (p.Gln1736His) c.4860A>T (p.Gln1620His) c.4485A>T (p.Gln1495His) c.5292A>T (p.Gln1764His) c.5394A>T (p.Gln1798His) c.5337A>T (p.Gln1779His) c.5313A>T (p.Gln1771His) c.5268A>T (p.Gln1756His) | |
3 | g.53801160A>C | CA433895912 | CACNA1D | c.5203A>C (p.Arg1735=) n.2194-52A>C n.578A>C c.5143A>C (p.Arg1715=) c.5098A>C (p.Arg1700=) c.1316-52A>C n.499A>C n.570A>C c.5170A>C (p.Arg1724=) c.4222A>C (p.Arg1408=) c.5398A>C (p.Arg1800=) c.5287A>C (p.Arg1763=) c.5209A>C (p.Arg1737=) c.4861A>C (p.Arg1621=) c.4486A>C (p.Arg1496=) c.5293A>C (p.Arg1765=) c.5395A>C (p.Arg1799=) c.5338A>C (p.Arg1780=) c.5314A>C (p.Arg1772=) c.5269A>C (p.Arg1757=) | |
3 | g.53801160A>G | CA353250090 | CACNA1D | c.5203A>G (p.Arg1735Gly) n.2194-52A>G n.578A>G c.5143A>G (p.Arg1715Gly) c.5098A>G (p.Arg1700Gly) c.1316-52A>G n.499A>G n.570A>G c.5170A>G (p.Arg1724Gly) c.4222A>G (p.Arg1408Gly) c.5398A>G (p.Arg1800Gly) c.5287A>G (p.Arg1763Gly) c.5209A>G (p.Arg1737Gly) c.4861A>G (p.Arg1621Gly) c.4486A>G (p.Arg1496Gly) c.5293A>G (p.Arg1765Gly) c.5395A>G (p.Arg1799Gly) c.5338A>G (p.Arg1780Gly) c.5314A>G (p.Arg1772Gly) c.5269A>G (p.Arg1757Gly) | |
3 | g.53801160A>T | CA353250092 | CACNA1D | c.5203A>T (p.Arg1735Trp) n.2194-52A>T n.578A>T c.5143A>T (p.Arg1715Trp) c.5098A>T (p.Arg1700Trp) c.1316-52A>T n.499A>T n.570A>T c.5170A>T (p.Arg1724Trp) c.4222A>T (p.Arg1408Trp) c.5398A>T (p.Arg1800Trp) c.5287A>T (p.Arg1763Trp) c.5209A>T (p.Arg1737Trp) c.4861A>T (p.Arg1621Trp) c.4486A>T (p.Arg1496Trp) c.5293A>T (p.Arg1765Trp) c.5395A>T (p.Arg1799Trp) c.5338A>T (p.Arg1780Trp) c.5314A>T (p.Arg1772Trp) c.5269A>T (p.Arg1757Trp) | |
3 | g.53801161G>A | CA353250094 | CACNA1D | c.5204G>A (p.Arg1735Lys) n.2194-51G>A n.579G>A c.5144G>A (p.Arg1715Lys) c.5099G>A (p.Arg1700Lys) c.1316-51G>A n.500G>A n.571G>A c.5171G>A (p.Arg1724Lys) c.4223G>A (p.Arg1408Lys) c.5399G>A (p.Arg1800Lys) c.5288G>A (p.Arg1763Lys) c.5210G>A (p.Arg1737Lys) c.4862G>A (p.Arg1621Lys) c.4487G>A (p.Arg1496Lys) c.5294G>A (p.Arg1765Lys) c.5396G>A (p.Arg1799Lys) c.5339G>A (p.Arg1780Lys) c.5315G>A (p.Arg1772Lys) c.5270G>A (p.Arg1757Lys) | |
3 | g.53801161G>C | CA353250097 | CACNA1D | c.5204G>C (p.Arg1735Thr) n.2194-51G>C n.579G>C c.5144G>C (p.Arg1715Thr) c.5099G>C (p.Arg1700Thr) c.1316-51G>C n.500G>C n.571G>C c.5171G>C (p.Arg1724Thr) c.4223G>C (p.Arg1408Thr) c.5399G>C (p.Arg1800Thr) c.5288G>C (p.Arg1763Thr) c.5210G>C (p.Arg1737Thr) c.4862G>C (p.Arg1621Thr) c.4487G>C (p.Arg1496Thr) c.5294G>C (p.Arg1765Thr) c.5396G>C (p.Arg1799Thr) c.5339G>C (p.Arg1780Thr) c.5315G>C (p.Arg1772Thr) c.5270G>C (p.Arg1757Thr) | |
3 | g.53801161G>T | CA353250099 | CACNA1D | c.5204G>T (p.Arg1735Met) n.2194-51G>T n.579G>T c.5144G>T (p.Arg1715Met) c.5099G>T (p.Arg1700Met) c.1316-51G>T n.500G>T n.571G>T c.5171G>T (p.Arg1724Met) c.4223G>T (p.Arg1408Met) c.5399G>T (p.Arg1800Met) c.5288G>T (p.Arg1763Met) c.5210G>T (p.Arg1737Met) c.4862G>T (p.Arg1621Met) c.4487G>T (p.Arg1496Met) c.5294G>T (p.Arg1765Met) c.5396G>T (p.Arg1799Met) c.5339G>T (p.Arg1780Met) c.5315G>T (p.Arg1772Met) c.5270G>T (p.Arg1757Met) | |
3 | g.53801162G>A | CA433895919 | CACNA1D | c.5205G>A (p.Arg1735=) n.2194-50G>A n.580G>A c.5145G>A (p.Arg1715=) c.5100G>A (p.Arg1700=) c.1316-50G>A n.501G>A n.572G>A c.5172G>A (p.Arg1724=) c.4224G>A (p.Arg1408=) c.5400G>A (p.Arg1800=) c.5289G>A (p.Arg1763=) c.5211G>A (p.Arg1737=) c.4863G>A (p.Arg1621=) c.4488G>A (p.Arg1496=) c.5295G>A (p.Arg1765=) c.5397G>A (p.Arg1799=) c.5340G>A (p.Arg1780=) c.5316G>A (p.Arg1772=) c.5271G>A (p.Arg1757=) | |
3 | g.53801162G>C | CA353250102 | CACNA1D | c.5205G>C (p.Arg1735Ser) n.2194-50G>C n.580G>C c.5145G>C (p.Arg1715Ser) c.5100G>C (p.Arg1700Ser) c.1316-50G>C n.501G>C n.572G>C c.5172G>C (p.Arg1724Ser) c.4224G>C (p.Arg1408Ser) c.5400G>C (p.Arg1800Ser) c.5289G>C (p.Arg1763Ser) c.5211G>C (p.Arg1737Ser) c.4863G>C (p.Arg1621Ser) c.4488G>C (p.Arg1496Ser) c.5295G>C (p.Arg1765Ser) c.5397G>C (p.Arg1799Ser) c.5340G>C (p.Arg1780Ser) c.5316G>C (p.Arg1772Ser) c.5271G>C (p.Arg1757Ser) | |
3 | g.53801162G>T | CA353250104 | CACNA1D | c.5205G>T (p.Arg1735Ser) n.2194-50G>T n.580G>T c.5145G>T (p.Arg1715Ser) c.5100G>T (p.Arg1700Ser) c.1316-50G>T n.501G>T n.572G>T c.5172G>T (p.Arg1724Ser) c.4224G>T (p.Arg1408Ser) c.5400G>T (p.Arg1800Ser) c.5289G>T (p.Arg1763Ser) c.5211G>T (p.Arg1737Ser) c.4863G>T (p.Arg1621Ser) c.4488G>T (p.Arg1496Ser) c.5295G>T (p.Arg1765Ser) c.5397G>T (p.Arg1799Ser) c.5340G>T (p.Arg1780Ser) c.5316G>T (p.Arg1772Ser) c.5271G>T (p.Arg1757Ser) | COSMIC COSMIC |
3 | g.53801163C>A | CA353250108 | CACNA1D | c.5206C>A (p.Pro1736Thr) n.2194-49C>A n.581C>A c.5146C>A (p.Pro1716Thr) c.5101C>A (p.Pro1701Thr) c.1316-49C>A n.502C>A n.573C>A c.5173C>A (p.Pro1725Thr) c.4225C>A (p.Pro1409Thr) c.5401C>A (p.Pro1801Thr) c.5290C>A (p.Pro1764Thr) c.5212C>A (p.Pro1738Thr) c.4864C>A (p.Pro1622Thr) c.4489C>A (p.Pro1497Thr) c.5296C>A (p.Pro1766Thr) c.5398C>A (p.Pro1800Thr) c.5341C>A (p.Pro1781Thr) c.5317C>A (p.Pro1773Thr) c.5272C>A (p.Pro1758Thr) | |
3 | g.53801163C>G | CA353250109 | CACNA1D | c.5206C>G (p.Pro1736Ala) n.2194-49C>G n.581C>G c.5146C>G (p.Pro1716Ala) c.5101C>G (p.Pro1701Ala) c.1316-49C>G n.502C>G n.573C>G c.5173C>G (p.Pro1725Ala) c.4225C>G (p.Pro1409Ala) c.5401C>G (p.Pro1801Ala) c.5290C>G (p.Pro1764Ala) c.5212C>G (p.Pro1738Ala) c.4864C>G (p.Pro1622Ala) c.4489C>G (p.Pro1497Ala) c.5296C>G (p.Pro1766Ala) c.5398C>G (p.Pro1800Ala) c.5341C>G (p.Pro1781Ala) c.5317C>G (p.Pro1773Ala) c.5272C>G (p.Pro1758Ala) | |
3 | g.53801163C>T | CA353250111 | CACNA1D | c.5206C>T (p.Pro1736Ser) n.2194-49C>T n.581C>T c.5146C>T (p.Pro1716Ser) c.5101C>T (p.Pro1701Ser) c.1316-49C>T n.502C>T n.573C>T c.5173C>T (p.Pro1725Ser) c.4225C>T (p.Pro1409Ser) c.5401C>T (p.Pro1801Ser) c.5290C>T (p.Pro1764Ser) c.5212C>T (p.Pro1738Ser) c.4864C>T (p.Pro1622Ser) c.4489C>T (p.Pro1497Ser) c.5296C>T (p.Pro1766Ser) c.5398C>T (p.Pro1800Ser) c.5341C>T (p.Pro1781Ser) c.5317C>T (p.Pro1773Ser) c.5272C>T (p.Pro1758Ser) | ClinVar gnomAD v4 |
3 | g.53801164C>A | CA353250117 | CACNA1D | c.5207C>A (p.Pro1736His) n.2194-48C>A n.582C>A c.5147C>A (p.Pro1716His) c.5102C>A (p.Pro1701His) c.1316-48C>A n.503C>A n.574C>A c.5174C>A (p.Pro1725His) c.4226C>A (p.Pro1409His) c.5402C>A (p.Pro1801His) c.5291C>A (p.Pro1764His) c.5213C>A (p.Pro1738His) c.4865C>A (p.Pro1622His) c.4490C>A (p.Pro1497His) c.5297C>A (p.Pro1766His) c.5399C>A (p.Pro1800His) c.5342C>A (p.Pro1781His) c.5318C>A (p.Pro1773His) c.5273C>A (p.Pro1758His) | |
3 | g.53801164C>G | CA353250120 | CACNA1D | c.5207C>G (p.Pro1736Arg) n.2194-48C>G n.582C>G c.5147C>G (p.Pro1716Arg) c.5102C>G (p.Pro1701Arg) c.1316-48C>G n.503C>G n.574C>G c.5174C>G (p.Pro1725Arg) c.4226C>G (p.Pro1409Arg) c.5402C>G (p.Pro1801Arg) c.5291C>G (p.Pro1764Arg) c.5213C>G (p.Pro1738Arg) c.4865C>G (p.Pro1622Arg) c.4490C>G (p.Pro1497Arg) c.5297C>G (p.Pro1766Arg) c.5399C>G (p.Pro1800Arg) c.5342C>G (p.Pro1781Arg) c.5318C>G (p.Pro1773Arg) c.5273C>G (p.Pro1758Arg) | |
3 | g.53801164C>T | CA353250122 | CACNA1D | c.5207C>T (p.Pro1736Leu) n.2194-48C>T n.582C>T c.5147C>T (p.Pro1716Leu) c.5102C>T (p.Pro1701Leu) c.1316-48C>T n.503C>T n.574C>T c.5174C>T (p.Pro1725Leu) c.4226C>T (p.Pro1409Leu) c.5402C>T (p.Pro1801Leu) c.5291C>T (p.Pro1764Leu) c.5213C>T (p.Pro1738Leu) c.4865C>T (p.Pro1622Leu) c.4490C>T (p.Pro1497Leu) c.5297C>T (p.Pro1766Leu) c.5399C>T (p.Pro1800Leu) c.5342C>T (p.Pro1781Leu) c.5318C>T (p.Pro1773Leu) c.5273C>T (p.Pro1758Leu) | |
3 | g.53801165T>A | CA433895922 | CACNA1D | c.5208T>A (p.Pro1736=) n.2194-47T>A n.583T>A c.5148T>A (p.Pro1716=) c.5103T>A (p.Pro1701=) c.1316-47T>A n.504T>A n.575T>A c.5175T>A (p.Pro1725=) c.4227T>A (p.Pro1409=) c.5403T>A (p.Pro1801=) c.5292T>A (p.Pro1764=) c.5214T>A (p.Pro1738=) c.4866T>A (p.Pro1622=) c.4491T>A (p.Pro1497=) c.5298T>A (p.Pro1766=) c.5400T>A (p.Pro1800=) c.5343T>A (p.Pro1781=) c.5319T>A (p.Pro1773=) c.5274T>A (p.Pro1758=) | |
3 | g.53801165T>C | CA433895924 | CACNA1D | c.5208T>C (p.Pro1736=) n.2194-47T>C n.583T>C c.5148T>C (p.Pro1716=) c.5103T>C (p.Pro1701=) c.1316-47T>C n.504T>C n.575T>C c.5175T>C (p.Pro1725=) c.4227T>C (p.Pro1409=) c.5403T>C (p.Pro1801=) c.5292T>C (p.Pro1764=) c.5214T>C (p.Pro1738=) c.4866T>C (p.Pro1622=) c.4491T>C (p.Pro1497=) c.5298T>C (p.Pro1766=) c.5400T>C (p.Pro1800=) c.5343T>C (p.Pro1781=) c.5319T>C (p.Pro1773=) c.5274T>C (p.Pro1758=) | |
3 | g.53801165T>G | CA433895923 | CACNA1D | c.5208T>G (p.Pro1736=) n.2194-47T>G n.583T>G c.5148T>G (p.Pro1716=) c.5103T>G (p.Pro1701=) c.1316-47T>G n.504T>G n.575T>G c.5175T>G (p.Pro1725=) c.4227T>G (p.Pro1409=) c.5403T>G (p.Pro1801=) c.5292T>G (p.Pro1764=) c.5214T>G (p.Pro1738=) c.4866T>G (p.Pro1622=) c.4491T>G (p.Pro1497=) c.5298T>G (p.Pro1766=) c.5400T>G (p.Pro1800=) c.5343T>G (p.Pro1781=) c.5319T>G (p.Pro1773=) c.5274T>G (p.Pro1758=) | |
3 | g.53801166T>A | CA353250125 | CACNA1D | c.5209T>A (p.Ser1737Thr) n.2194-46T>A n.584T>A c.5149T>A (p.Ser1717Thr) c.5104T>A (p.Ser1702Thr) c.1316-46T>A n.505T>A n.576T>A c.5176T>A (p.Ser1726Thr) c.4228T>A (p.Ser1410Thr) c.5404T>A (p.Ser1802Thr) c.5293T>A (p.Ser1765Thr) c.5215T>A (p.Ser1739Thr) c.4867T>A (p.Ser1623Thr) c.4492T>A (p.Ser1498Thr) c.5299T>A (p.Ser1767Thr) c.5401T>A (p.Ser1801Thr) c.5344T>A (p.Ser1782Thr) c.5320T>A (p.Ser1774Thr) c.5275T>A (p.Ser1759Thr) | |
3 | g.53801166T>C | CA353250128 | CACNA1D | c.5209T>C (p.Ser1737Pro) n.2194-46T>C n.584T>C c.5149T>C (p.Ser1717Pro) c.5104T>C (p.Ser1702Pro) c.1316-46T>C n.505T>C n.576T>C c.5176T>C (p.Ser1726Pro) c.4228T>C (p.Ser1410Pro) c.5404T>C (p.Ser1802Pro) c.5293T>C (p.Ser1765Pro) c.5215T>C (p.Ser1739Pro) c.4867T>C (p.Ser1623Pro) c.4492T>C (p.Ser1498Pro) c.5299T>C (p.Ser1767Pro) c.5401T>C (p.Ser1801Pro) c.5344T>C (p.Ser1782Pro) c.5320T>C (p.Ser1774Pro) c.5275T>C (p.Ser1759Pro) | |
3 | g.53801166T>G | CA353250131 | CACNA1D | c.5209T>G (p.Ser1737Ala) n.2194-46T>G n.584T>G c.5149T>G (p.Ser1717Ala) c.5104T>G (p.Ser1702Ala) c.1316-46T>G n.505T>G n.576T>G c.5176T>G (p.Ser1726Ala) c.4228T>G (p.Ser1410Ala) c.5404T>G (p.Ser1802Ala) c.5293T>G (p.Ser1765Ala) c.5215T>G (p.Ser1739Ala) c.4867T>G (p.Ser1623Ala) c.4492T>G (p.Ser1498Ala) c.5299T>G (p.Ser1767Ala) c.5401T>G (p.Ser1801Ala) c.5344T>G (p.Ser1782Ala) c.5320T>G (p.Ser1774Ala) c.5275T>G (p.Ser1759Ala) | |
3 | g.53801167C>A | CA353250134 | CACNA1D | c.5210C>A (p.Ser1737Ter) n.2194-45C>A n.585C>A c.5150C>A (p.Ser1717Ter) c.5105C>A (p.Ser1702Ter) c.1316-45C>A n.506C>A n.577C>A c.5177C>A (p.Ser1726Ter) c.4229C>A (p.Ser1410Ter) c.5405C>A (p.Ser1802Ter) c.5294C>A (p.Ser1765Ter) c.5216C>A (p.Ser1739Ter) c.4868C>A (p.Ser1623Ter) c.4493C>A (p.Ser1498Ter) c.5300C>A (p.Ser1767Ter) c.5402C>A (p.Ser1801Ter) c.5345C>A (p.Ser1782Ter) c.5321C>A (p.Ser1774Ter) c.5276C>A (p.Ser1759Ter) | |
3 | g.53801167C>G | CA353250138 | CACNA1D | c.5210C>G (p.Ser1737Ter) n.2194-45C>G n.585C>G c.5150C>G (p.Ser1717Ter) c.5105C>G (p.Ser1702Ter) c.1316-45C>G n.506C>G n.577C>G c.5177C>G (p.Ser1726Ter) c.4229C>G (p.Ser1410Ter) c.5405C>G (p.Ser1802Ter) c.5294C>G (p.Ser1765Ter) c.5216C>G (p.Ser1739Ter) c.4868C>G (p.Ser1623Ter) c.4493C>G (p.Ser1498Ter) c.5300C>G (p.Ser1767Ter) c.5402C>G (p.Ser1801Ter) c.5345C>G (p.Ser1782Ter) c.5321C>G (p.Ser1774Ter) c.5276C>G (p.Ser1759Ter) | |
3 | g.53801167C>T | CA353250158 | CACNA1D | c.5210C>T (p.Ser1737Leu) n.2194-45C>T n.585C>T c.5150C>T (p.Ser1717Leu) c.5105C>T (p.Ser1702Leu) c.1316-45C>T n.506C>T n.577C>T c.5177C>T (p.Ser1726Leu) c.4229C>T (p.Ser1410Leu) c.5405C>T (p.Ser1802Leu) c.5294C>T (p.Ser1765Leu) c.5216C>T (p.Ser1739Leu) c.4868C>T (p.Ser1623Leu) c.4493C>T (p.Ser1498Leu) c.5300C>T (p.Ser1767Leu) c.5402C>T (p.Ser1801Leu) c.5345C>T (p.Ser1782Leu) c.5321C>T (p.Ser1774Leu) c.5276C>T (p.Ser1759Leu) | gnomAD v4 |
3 | g.53801168A>C | CA433895927 | CACNA1D | c.5211A>C (p.Ser1737=) n.2194-44A>C n.586A>C c.5151A>C (p.Ser1717=) c.5106A>C (p.Ser1702=) c.1316-44A>C n.507A>C n.578A>C c.5178A>C (p.Ser1726=) c.4230A>C (p.Ser1410=) c.5406A>C (p.Ser1802=) c.5295A>C (p.Ser1765=) c.5217A>C (p.Ser1739=) c.4869A>C (p.Ser1623=) c.4494A>C (p.Ser1498=) c.5301A>C (p.Ser1767=) c.5403A>C (p.Ser1801=) c.5346A>C (p.Ser1782=) c.5322A>C (p.Ser1774=) c.5277A>C (p.Ser1759=) | |
3 | g.53801168A>G | CA433895928 | CACNA1D | c.5211A>G (p.Ser1737=) n.2194-44A>G n.586A>G c.5151A>G (p.Ser1717=) c.5106A>G (p.Ser1702=) c.1316-44A>G n.507A>G n.578A>G c.5178A>G (p.Ser1726=) c.4230A>G (p.Ser1410=) c.5406A>G (p.Ser1802=) c.5295A>G (p.Ser1765=) c.5217A>G (p.Ser1739=) c.4869A>G (p.Ser1623=) c.4494A>G (p.Ser1498=) c.5301A>G (p.Ser1767=) c.5403A>G (p.Ser1801=) c.5346A>G (p.Ser1782=) c.5322A>G (p.Ser1774=) c.5277A>G (p.Ser1759=) | |
3 | g.53801168A>T | CA433895930 | CACNA1D | c.5211A>T (p.Ser1737=) n.2194-44A>T n.586A>T c.5151A>T (p.Ser1717=) c.5106A>T (p.Ser1702=) c.1316-44A>T n.507A>T n.578A>T c.5178A>T (p.Ser1726=) c.4230A>T (p.Ser1410=) c.5406A>T (p.Ser1802=) c.5295A>T (p.Ser1765=) c.5217A>T (p.Ser1739=) c.4869A>T (p.Ser1623=) c.4494A>T (p.Ser1498=) c.5301A>T (p.Ser1767=) c.5403A>T (p.Ser1801=) c.5346A>T (p.Ser1782=) c.5322A>T (p.Ser1774=) c.5277A>T (p.Ser1759=) | |
3 | g.53801169A= | CA1365484156 | CACNA1D | c.5212A= (p.Ile1738=) n.2194-43A= n.587A= c.5152A= (p.Ile1718=) c.5107A= (p.Ile1703=) c.1316-43A= n.508A= n.579A= c.5179A= (p.Ile1727=) c.4231A= (p.Ile1411=) c.5407A= (p.Ile1803=) c.5296A= (p.Ile1766=) c.5218A= (p.Ile1740=) c.4870A= (p.Ile1624=) c.4495A= (p.Ile1499=) c.5302A= (p.Ile1768=) c.5404A= (p.Ile1802=) c.5347A= (p.Ile1783=) c.5323A= (p.Ile1775=) c.5278A= (p.Ile1760=) | |
3 | g.53801169A>C | CA353250164 | CACNA1D | c.5212A>C (p.Ile1738Leu) n.2194-43A>C n.587A>C c.5152A>C (p.Ile1718Leu) c.5107A>C (p.Ile1703Leu) c.1316-43A>C n.508A>C n.579A>C c.5179A>C (p.Ile1727Leu) c.4231A>C (p.Ile1411Leu) c.5407A>C (p.Ile1803Leu) c.5296A>C (p.Ile1766Leu) c.5218A>C (p.Ile1740Leu) c.4870A>C (p.Ile1624Leu) c.4495A>C (p.Ile1499Leu) c.5302A>C (p.Ile1768Leu) c.5404A>C (p.Ile1802Leu) c.5347A>C (p.Ile1783Leu) c.5323A>C (p.Ile1775Leu) c.5278A>C (p.Ile1760Leu) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.53801169A>G | CA353250170 | CACNA1D | c.5212A>G (p.Ile1738Val) n.2194-43A>G n.587A>G c.5152A>G (p.Ile1718Val) c.5107A>G (p.Ile1703Val) c.1316-43A>G n.508A>G n.579A>G c.5179A>G (p.Ile1727Val) c.4231A>G (p.Ile1411Val) c.5407A>G (p.Ile1803Val) c.5296A>G (p.Ile1766Val) c.5218A>G (p.Ile1740Val) c.4870A>G (p.Ile1624Val) c.4495A>G (p.Ile1499Val) c.5302A>G (p.Ile1768Val) c.5404A>G (p.Ile1802Val) c.5347A>G (p.Ile1783Val) c.5323A>G (p.Ile1775Val) c.5278A>G (p.Ile1760Val) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.53801169A>T | CA353250161 | CACNA1D | c.5212A>T (p.Ile1738Phe) n.2194-43A>T n.587A>T c.5152A>T (p.Ile1718Phe) c.5107A>T (p.Ile1703Phe) c.1316-43A>T n.508A>T n.579A>T c.5179A>T (p.Ile1727Phe) c.4231A>T (p.Ile1411Phe) c.5407A>T (p.Ile1803Phe) c.5296A>T (p.Ile1766Phe) c.5218A>T (p.Ile1740Phe) c.4870A>T (p.Ile1624Phe) c.4495A>T (p.Ile1499Phe) c.5302A>T (p.Ile1768Phe) c.5404A>T (p.Ile1802Phe) c.5347A>T (p.Ile1783Phe) c.5323A>T (p.Ile1775Phe) c.5278A>T (p.Ile1760Phe) | gnomAD v4 |
3 | g.53801170T>A | CA353250172 | CACNA1D | c.5213T>A (p.Ile1738Asn) n.2194-42T>A n.588T>A c.5153T>A (p.Ile1718Asn) c.5108T>A (p.Ile1703Asn) c.1316-42T>A n.509T>A n.580T>A c.5180T>A (p.Ile1727Asn) c.4232T>A (p.Ile1411Asn) c.5408T>A (p.Ile1803Asn) c.5297T>A (p.Ile1766Asn) c.5219T>A (p.Ile1740Asn) c.4871T>A (p.Ile1624Asn) c.4496T>A (p.Ile1499Asn) c.5303T>A (p.Ile1768Asn) c.5405T>A (p.Ile1802Asn) c.5348T>A (p.Ile1783Asn) c.5324T>A (p.Ile1775Asn) c.5279T>A (p.Ile1760Asn) | |
3 | g.53801170T>C | CA353250174 | CACNA1D | c.5213T>C (p.Ile1738Thr) n.2194-42T>C n.588T>C c.5153T>C (p.Ile1718Thr) c.5108T>C (p.Ile1703Thr) c.1316-42T>C n.509T>C n.580T>C c.5180T>C (p.Ile1727Thr) c.4232T>C (p.Ile1411Thr) c.5408T>C (p.Ile1803Thr) c.5297T>C (p.Ile1766Thr) c.5219T>C (p.Ile1740Thr) c.4871T>C (p.Ile1624Thr) c.4496T>C (p.Ile1499Thr) c.5303T>C (p.Ile1768Thr) c.5405T>C (p.Ile1802Thr) c.5348T>C (p.Ile1783Thr) c.5324T>C (p.Ile1775Thr) c.5279T>C (p.Ile1760Thr) | |
3 | g.53801170T>G | CA353250177 | CACNA1D | c.5213T>G (p.Ile1738Ser) n.2194-42T>G n.588T>G c.5153T>G (p.Ile1718Ser) c.5108T>G (p.Ile1703Ser) c.1316-42T>G n.509T>G n.580T>G c.5180T>G (p.Ile1727Ser) c.4232T>G (p.Ile1411Ser) c.5408T>G (p.Ile1803Ser) c.5297T>G (p.Ile1766Ser) c.5219T>G (p.Ile1740Ser) c.4871T>G (p.Ile1624Ser) c.4496T>G (p.Ile1499Ser) c.5303T>G (p.Ile1768Ser) c.5405T>G (p.Ile1802Ser) c.5348T>G (p.Ile1783Ser) c.5324T>G (p.Ile1775Ser) c.5279T>G (p.Ile1760Ser) | |
3 | g.53801171T>A | CA433895938 | CACNA1D | c.5214T>A (p.Ile1738=) n.2194-41T>A n.589T>A c.5154T>A (p.Ile1718=) c.5109T>A (p.Ile1703=) c.1316-41T>A n.510T>A n.581T>A c.5181T>A (p.Ile1727=) c.4233T>A (p.Ile1411=) c.5409T>A (p.Ile1803=) c.5298T>A (p.Ile1766=) c.5220T>A (p.Ile1740=) c.4872T>A (p.Ile1624=) c.4497T>A (p.Ile1499=) c.5304T>A (p.Ile1768=) c.5406T>A (p.Ile1802=) c.5349T>A (p.Ile1783=) c.5325T>A (p.Ile1775=) c.5280T>A (p.Ile1760=) | |
3 | g.53801171T>C | CA433895940 | CACNA1D | c.5214T>C (p.Ile1738=) n.2194-41T>C n.589T>C c.5154T>C (p.Ile1718=) c.5109T>C (p.Ile1703=) c.1316-41T>C n.510T>C n.581T>C c.5181T>C (p.Ile1727=) c.4233T>C (p.Ile1411=) c.5409T>C (p.Ile1803=) c.5298T>C (p.Ile1766=) c.5220T>C (p.Ile1740=) c.4872T>C (p.Ile1624=) c.4497T>C (p.Ile1499=) c.5304T>C (p.Ile1768=) c.5406T>C (p.Ile1802=) c.5349T>C (p.Ile1783=) c.5325T>C (p.Ile1775=) c.5280T>C (p.Ile1760=) | |
3 | g.53801171T>G | CA353250179 | CACNA1D | c.5214T>G (p.Ile1738Met) n.2194-41T>G n.589T>G c.5154T>G (p.Ile1718Met) c.5109T>G (p.Ile1703Met) c.1316-41T>G n.510T>G n.581T>G c.5181T>G (p.Ile1727Met) c.4233T>G (p.Ile1411Met) c.5409T>G (p.Ile1803Met) c.5298T>G (p.Ile1766Met) c.5220T>G (p.Ile1740Met) c.4872T>G (p.Ile1624Met) c.4497T>G (p.Ile1499Met) c.5304T>G (p.Ile1768Met) c.5406T>G (p.Ile1802Met) c.5349T>G (p.Ile1783Met) c.5325T>G (p.Ile1775Met) c.5280T>G (p.Ile1760Met) | COSMIC COSMIC |
3 | g.53801172C>A | CA353250192 | CACNA1D | c.5215C>A (p.Pro1739Thr) n.2194-40C>A n.590C>A c.5155C>A (p.Pro1719Thr) c.5110C>A (p.Pro1704Thr) c.1316-40C>A n.511C>A n.582C>A c.5182C>A (p.Pro1728Thr) c.4234C>A (p.Pro1412Thr) c.5410C>A (p.Pro1804Thr) c.5299C>A (p.Pro1767Thr) c.5221C>A (p.Pro1741Thr) c.4873C>A (p.Pro1625Thr) c.4498C>A (p.Pro1500Thr) c.5305C>A (p.Pro1769Thr) c.5407C>A (p.Pro1803Thr) c.5350C>A (p.Pro1784Thr) c.5326C>A (p.Pro1776Thr) c.5281C>A (p.Pro1761Thr) | |
3 | g.53801172C>G | CA353250196 | CACNA1D | c.5215C>G (p.Pro1739Ala) n.2194-40C>G n.590C>G c.5155C>G (p.Pro1719Ala) c.5110C>G (p.Pro1704Ala) c.1316-40C>G n.511C>G n.582C>G c.5182C>G (p.Pro1728Ala) c.4234C>G (p.Pro1412Ala) c.5410C>G (p.Pro1804Ala) c.5299C>G (p.Pro1767Ala) c.5221C>G (p.Pro1741Ala) c.4873C>G (p.Pro1625Ala) c.4498C>G (p.Pro1500Ala) c.5305C>G (p.Pro1769Ala) c.5407C>G (p.Pro1803Ala) c.5350C>G (p.Pro1784Ala) c.5326C>G (p.Pro1776Ala) c.5281C>G (p.Pro1761Ala) | |
3 | g.53801172C>T | CA353250201 | CACNA1D | c.5215C>T (p.Pro1739Ser) n.2194-40C>T n.590C>T c.5155C>T (p.Pro1719Ser) c.5110C>T (p.Pro1704Ser) c.1316-40C>T n.511C>T n.582C>T c.5182C>T (p.Pro1728Ser) c.4234C>T (p.Pro1412Ser) c.5410C>T (p.Pro1804Ser) c.5299C>T (p.Pro1767Ser) c.5221C>T (p.Pro1741Ser) c.4873C>T (p.Pro1625Ser) c.4498C>T (p.Pro1500Ser) c.5305C>T (p.Pro1769Ser) c.5407C>T (p.Pro1803Ser) c.5350C>T (p.Pro1784Ser) c.5326C>T (p.Pro1776Ser) c.5281C>T (p.Pro1761Ser) | |
3 | g.53801173C>A | CA353250205 | CACNA1D | c.5216C>A (p.Pro1739Gln) n.2194-39C>A n.591C>A c.5156C>A (p.Pro1719Gln) c.5111C>A (p.Pro1704Gln) c.1316-39C>A n.512C>A n.583C>A c.5183C>A (p.Pro1728Gln) c.4235C>A (p.Pro1412Gln) c.5411C>A (p.Pro1804Gln) c.5300C>A (p.Pro1767Gln) c.5222C>A (p.Pro1741Gln) c.4874C>A (p.Pro1625Gln) c.4499C>A (p.Pro1500Gln) c.5306C>A (p.Pro1769Gln) c.5408C>A (p.Pro1803Gln) c.5351C>A (p.Pro1784Gln) c.5327C>A (p.Pro1776Gln) c.5282C>A (p.Pro1761Gln) | |
3 | g.53801173C= | CA1365484157 | CACNA1D | c.5216C= (p.Pro1739=) n.2194-39C= n.591C= c.5156C= (p.Pro1719=) c.5111C= (p.Pro1704=) c.1316-39C= n.512C= n.583C= c.5183C= (p.Pro1728=) c.4235C= (p.Pro1412=) c.5411C= (p.Pro1804=) c.5300C= (p.Pro1767=) c.5222C= (p.Pro1741=) c.4874C= (p.Pro1625=) c.4499C= (p.Pro1500=) c.5306C= (p.Pro1769=) c.5408C= (p.Pro1803=) c.5351C= (p.Pro1784=) c.5327C= (p.Pro1776=) c.5282C= (p.Pro1761=) | |
3 | g.53801173C>G | CA353250207 | CACNA1D | c.5216C>G (p.Pro1739Arg) n.2194-39C>G n.591C>G c.5156C>G (p.Pro1719Arg) c.5111C>G (p.Pro1704Arg) c.1316-39C>G n.512C>G n.583C>G c.5183C>G (p.Pro1728Arg) c.4235C>G (p.Pro1412Arg) c.5411C>G (p.Pro1804Arg) c.5300C>G (p.Pro1767Arg) c.5222C>G (p.Pro1741Arg) c.4874C>G (p.Pro1625Arg) c.4499C>G (p.Pro1500Arg) c.5306C>G (p.Pro1769Arg) c.5408C>G (p.Pro1803Arg) c.5351C>G (p.Pro1784Arg) c.5327C>G (p.Pro1776Arg) c.5282C>G (p.Pro1761Arg) | |
3 | g.53801173C>T | CA353250211 | CACNA1D | c.5216C>T (p.Pro1739Leu) n.2194-39C>T n.591C>T c.5156C>T (p.Pro1719Leu) c.5111C>T (p.Pro1704Leu) c.1316-39C>T n.512C>T n.583C>T c.5183C>T (p.Pro1728Leu) c.4235C>T (p.Pro1412Leu) c.5411C>T (p.Pro1804Leu) c.5300C>T (p.Pro1767Leu) c.5222C>T (p.Pro1741Leu) c.4874C>T (p.Pro1625Leu) c.4499C>T (p.Pro1500Leu) c.5306C>T (p.Pro1769Leu) c.5408C>T (p.Pro1803Leu) c.5351C>T (p.Pro1784Leu) c.5327C>T (p.Pro1776Leu) c.5282C>T (p.Pro1761Leu) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.53801174A>C | CA433895952 | CACNA1D | c.5217A>C (p.Pro1739=) n.2194-38A>C n.592A>C c.5157A>C (p.Pro1719=) c.5112A>C (p.Pro1704=) c.1316-38A>C n.513A>C n.584A>C c.5184A>C (p.Pro1728=) c.4236A>C (p.Pro1412=) c.5412A>C (p.Pro1804=) c.5301A>C (p.Pro1767=) c.5223A>C (p.Pro1741=) c.4875A>C (p.Pro1625=) c.4500A>C (p.Pro1500=) c.5307A>C (p.Pro1769=) c.5409A>C (p.Pro1803=) c.5352A>C (p.Pro1784=) c.5328A>C (p.Pro1776=) c.5283A>C (p.Pro1761=) | |
3 | g.53801174A>G | CA433895950 | CACNA1D | c.5217A>G (p.Pro1739=) n.2194-38A>G n.592A>G c.5157A>G (p.Pro1719=) c.5112A>G (p.Pro1704=) c.1316-38A>G n.513A>G n.584A>G c.5184A>G (p.Pro1728=) c.4236A>G (p.Pro1412=) c.5412A>G (p.Pro1804=) c.5301A>G (p.Pro1767=) c.5223A>G (p.Pro1741=) c.4875A>G (p.Pro1625=) c.4500A>G (p.Pro1500=) c.5307A>G (p.Pro1769=) c.5409A>G (p.Pro1803=) c.5352A>G (p.Pro1784=) c.5328A>G (p.Pro1776=) c.5283A>G (p.Pro1761=) | |
3 | g.53801174A>T | CA433895951 | CACNA1D | c.5217A>T (p.Pro1739=) n.2194-38A>T n.592A>T c.5157A>T (p.Pro1719=) c.5112A>T (p.Pro1704=) c.1316-38A>T n.513A>T n.584A>T c.5184A>T (p.Pro1728=) c.4236A>T (p.Pro1412=) c.5412A>T (p.Pro1804=) c.5301A>T (p.Pro1767=) c.5223A>T (p.Pro1741=) c.4875A>T (p.Pro1625=) c.4500A>T (p.Pro1500=) c.5307A>T (p.Pro1769=) c.5409A>T (p.Pro1803=) c.5352A>T (p.Pro1784=) c.5328A>T (p.Pro1776=) c.5283A>T (p.Pro1761=) | |
3 | g.53801175C>A | CA353250215 | CACNA1D | c.5218C>A (p.Pro1740Thr) n.2194-37C>A n.593C>A c.5158C>A (p.Pro1720Thr) c.5113C>A (p.Pro1705Thr) c.1316-37C>A n.514C>A n.585C>A c.5185C>A (p.Pro1729Thr) c.4237C>A (p.Pro1413Thr) c.5413C>A (p.Pro1805Thr) c.5302C>A (p.Pro1768Thr) c.5224C>A (p.Pro1742Thr) c.4876C>A (p.Pro1626Thr) c.4501C>A (p.Pro1501Thr) c.5308C>A (p.Pro1770Thr) c.5410C>A (p.Pro1804Thr) c.5353C>A (p.Pro1785Thr) c.5329C>A (p.Pro1777Thr) c.5284C>A (p.Pro1762Thr) | |
3 | g.53801175C= | CA1365484158 | CACNA1D | c.5218C= (p.Pro1740=) n.2194-37C= n.593C= c.5158C= (p.Pro1720=) c.5113C= (p.Pro1705=) c.1316-37C= n.514C= n.585C= c.5185C= (p.Pro1729=) c.4237C= (p.Pro1413=) c.5413C= (p.Pro1805=) c.5302C= (p.Pro1768=) c.5224C= (p.Pro1742=) c.4876C= (p.Pro1626=) c.4501C= (p.Pro1501=) c.5308C= (p.Pro1770=) c.5410C= (p.Pro1804=) c.5353C= (p.Pro1785=) c.5329C= (p.Pro1777=) c.5284C= (p.Pro1762=) | |
3 | g.53801175C>G | CA353250217 | CACNA1D | c.5218C>G (p.Pro1740Ala) n.2194-37C>G n.593C>G c.5158C>G (p.Pro1720Ala) c.5113C>G (p.Pro1705Ala) c.1316-37C>G n.514C>G n.585C>G c.5185C>G (p.Pro1729Ala) c.4237C>G (p.Pro1413Ala) c.5413C>G (p.Pro1805Ala) c.5302C>G (p.Pro1768Ala) c.5224C>G (p.Pro1742Ala) c.4876C>G (p.Pro1626Ala) c.4501C>G (p.Pro1501Ala) c.5308C>G (p.Pro1770Ala) c.5410C>G (p.Pro1804Ala) c.5353C>G (p.Pro1785Ala) c.5329C>G (p.Pro1777Ala) c.5284C>G (p.Pro1762Ala) | |
3 | g.53801175C>T | CA353250220 | CACNA1D | c.5218C>T (p.Pro1740Ser) n.2194-37C>T n.593C>T c.5158C>T (p.Pro1720Ser) c.5113C>T (p.Pro1705Ser) c.1316-37C>T n.514C>T n.585C>T c.5185C>T (p.Pro1729Ser) c.4237C>T (p.Pro1413Ser) c.5413C>T (p.Pro1805Ser) c.5302C>T (p.Pro1768Ser) c.5224C>T (p.Pro1742Ser) c.4876C>T (p.Pro1626Ser) c.4501C>T (p.Pro1501Ser) c.5308C>T (p.Pro1770Ser) c.5410C>T (p.Pro1804Ser) c.5353C>T (p.Pro1785Ser) c.5329C>T (p.Pro1777Ser) c.5284C>T (p.Pro1762Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.53801176C>A | CA353250230 | CACNA1D | c.5219C>A (p.Pro1740His) n.2194-36C>A n.594C>A c.5159C>A (p.Pro1720His) c.5114C>A (p.Pro1705His) c.1316-36C>A n.515C>A n.586C>A c.5186C>A (p.Pro1729His) c.4238C>A (p.Pro1413His) c.5414C>A (p.Pro1805His) c.5303C>A (p.Pro1768His) c.5225C>A (p.Pro1742His) c.4877C>A (p.Pro1626His) c.4502C>A (p.Pro1501His) c.5309C>A (p.Pro1770His) c.5411C>A (p.Pro1804His) c.5354C>A (p.Pro1785His) c.5330C>A (p.Pro1777His) c.5285C>A (p.Pro1762His) | |
3 | g.53801176C>G | CA353250227 | CACNA1D | c.5219C>G (p.Pro1740Arg) n.2194-36C>G n.594C>G c.5159C>G (p.Pro1720Arg) c.5114C>G (p.Pro1705Arg) c.1316-36C>G n.515C>G n.586C>G c.5186C>G (p.Pro1729Arg) c.4238C>G (p.Pro1413Arg) c.5414C>G (p.Pro1805Arg) c.5303C>G (p.Pro1768Arg) c.5225C>G (p.Pro1742Arg) c.4877C>G (p.Pro1626Arg) c.4502C>G (p.Pro1501Arg) c.5309C>G (p.Pro1770Arg) c.5411C>G (p.Pro1804Arg) c.5354C>G (p.Pro1785Arg) c.5330C>G (p.Pro1777Arg) c.5285C>G (p.Pro1762Arg) | |
3 | g.53801176C>T | CA353250224 | CACNA1D | c.5219C>T (p.Pro1740Leu) n.2194-36C>T n.594C>T c.5159C>T (p.Pro1720Leu) c.5114C>T (p.Pro1705Leu) c.1316-36C>T n.515C>T n.586C>T c.5186C>T (p.Pro1729Leu) c.4238C>T (p.Pro1413Leu) c.5414C>T (p.Pro1805Leu) c.5303C>T (p.Pro1768Leu) c.5225C>T (p.Pro1742Leu) c.4877C>T (p.Pro1626Leu) c.4502C>T (p.Pro1501Leu) c.5309C>T (p.Pro1770Leu) c.5411C>T (p.Pro1804Leu) c.5354C>T (p.Pro1785Leu) c.5330C>T (p.Pro1777Leu) c.5285C>T (p.Pro1762Leu) | |
3 | g.53801177T>A | CA433895958 | CACNA1D | c.5220T>A (p.Pro1740=) n.2194-35T>A n.595T>A c.5160T>A (p.Pro1720=) c.5115T>A (p.Pro1705=) c.1316-35T>A n.516T>A n.587T>A c.5187T>A (p.Pro1729=) c.4239T>A (p.Pro1413=) c.5415T>A (p.Pro1805=) c.5304T>A (p.Pro1768=) c.5226T>A (p.Pro1742=) c.4878T>A (p.Pro1626=) c.4503T>A (p.Pro1501=) c.5310T>A (p.Pro1770=) c.5412T>A (p.Pro1804=) c.5355T>A (p.Pro1785=) c.5331T>A (p.Pro1777=) c.5286T>A (p.Pro1762=) | |
3 | g.53801177T>C | CA433895959 | CACNA1D | c.5220T>C (p.Pro1740=) n.2194-35T>C n.595T>C c.5160T>C (p.Pro1720=) c.5115T>C (p.Pro1705=) c.1316-35T>C n.516T>C n.587T>C c.5187T>C (p.Pro1729=) c.4239T>C (p.Pro1413=) c.5415T>C (p.Pro1805=) c.5304T>C (p.Pro1768=) c.5226T>C (p.Pro1742=) c.4878T>C (p.Pro1626=) c.4503T>C (p.Pro1501=) c.5310T>C (p.Pro1770=) c.5412T>C (p.Pro1804=) c.5355T>C (p.Pro1785=) c.5331T>C (p.Pro1777=) c.5286T>C (p.Pro1762=) | |
3 | g.53801177T>G | CA433895960 | CACNA1D | c.5220T>G (p.Pro1740=) n.2194-35T>G n.595T>G c.5160T>G (p.Pro1720=) c.5115T>G (p.Pro1705=) c.1316-35T>G n.516T>G n.587T>G c.5187T>G (p.Pro1729=) c.4239T>G (p.Pro1413=) c.5415T>G (p.Pro1805=) c.5304T>G (p.Pro1768=) c.5226T>G (p.Pro1742=) c.4878T>G (p.Pro1626=) c.4503T>G (p.Pro1501=) c.5310T>G (p.Pro1770=) c.5412T>G (p.Pro1804=) c.5355T>G (p.Pro1785=) c.5331T>G (p.Pro1777=) c.5286T>G (p.Pro1762=) | |
3 | g.53801178G>A | CA353250232 | CACNA1D | c.5221G>A (p.Ala1741Thr) n.2194-34G>A n.596G>A c.5161G>A (p.Ala1721Thr) c.5116G>A (p.Ala1706Thr) c.1316-34G>A n.517G>A n.588G>A c.5188G>A (p.Ala1730Thr) c.4240G>A (p.Ala1414Thr) c.5416G>A (p.Ala1806Thr) c.5305G>A (p.Ala1769Thr) c.5227G>A (p.Ala1743Thr) c.4879G>A (p.Ala1627Thr) c.4504G>A (p.Ala1502Thr) c.5311G>A (p.Ala1771Thr) c.5413G>A (p.Ala1805Thr) c.5356G>A (p.Ala1786Thr) c.5332G>A (p.Ala1778Thr) c.5287G>A (p.Ala1763Thr) | ClinVar dbSNP gnomAD v4 |
3 | g.53801178G>C | CA353250234 | CACNA1D | c.5221G>C (p.Ala1741Pro) n.2194-34G>C n.596G>C c.5161G>C (p.Ala1721Pro) c.5116G>C (p.Ala1706Pro) c.1316-34G>C n.517G>C n.588G>C c.5188G>C (p.Ala1730Pro) c.4240G>C (p.Ala1414Pro) c.5416G>C (p.Ala1806Pro) c.5305G>C (p.Ala1769Pro) c.5227G>C (p.Ala1743Pro) c.4879G>C (p.Ala1627Pro) c.4504G>C (p.Ala1502Pro) c.5311G>C (p.Ala1771Pro) c.5413G>C (p.Ala1805Pro) c.5356G>C (p.Ala1786Pro) c.5332G>C (p.Ala1778Pro) c.5287G>C (p.Ala1763Pro) | |
3 | g.53801178G= | CA1365484159 | CACNA1D | c.5221G= (p.Ala1741=) n.2194-34G= n.596G= c.5161G= (p.Ala1721=) c.5116G= (p.Ala1706=) c.1316-34G= n.517G= n.588G= c.5188G= (p.Ala1730=) c.4240G= (p.Ala1414=) c.5416G= (p.Ala1806=) c.5305G= (p.Ala1769=) c.5227G= (p.Ala1743=) c.4879G= (p.Ala1627=) c.4504G= (p.Ala1502=) c.5311G= (p.Ala1771=) c.5413G= (p.Ala1805=) c.5356G= (p.Ala1786=) c.5332G= (p.Ala1778=) c.5287G= (p.Ala1763=) | |
3 | g.53801178G>T | CA353250237 | CACNA1D | c.5221G>T (p.Ala1741Ser) n.2194-34G>T n.596G>T c.5161G>T (p.Ala1721Ser) c.5116G>T (p.Ala1706Ser) c.1316-34G>T n.517G>T n.588G>T c.5188G>T (p.Ala1730Ser) c.4240G>T (p.Ala1414Ser) c.5416G>T (p.Ala1806Ser) c.5305G>T (p.Ala1769Ser) c.5227G>T (p.Ala1743Ser) c.4879G>T (p.Ala1627Ser) c.4504G>T (p.Ala1502Ser) c.5311G>T (p.Ala1771Ser) c.5413G>T (p.Ala1805Ser) c.5356G>T (p.Ala1786Ser) c.5332G>T (p.Ala1778Ser) c.5287G>T (p.Ala1763Ser) | |
3 | g.53801179C>A | CA353250240 | CACNA1D | c.5222C>A (p.Ala1741Glu) n.2194-33C>A n.597C>A c.5162C>A (p.Ala1721Glu) c.5117C>A (p.Ala1706Glu) c.1316-33C>A n.518C>A n.589C>A c.5189C>A (p.Ala1730Glu) c.4241C>A (p.Ala1414Glu) c.5417C>A (p.Ala1806Glu) c.5306C>A (p.Ala1769Glu) c.5228C>A (p.Ala1743Glu) c.4880C>A (p.Ala1627Glu) c.4505C>A (p.Ala1502Glu) c.5312C>A (p.Ala1771Glu) c.5414C>A (p.Ala1805Glu) c.5357C>A (p.Ala1786Glu) c.5333C>A (p.Ala1778Glu) c.5288C>A (p.Ala1763Glu) | |
3 | g.53801179C>G | CA353250243 | CACNA1D | c.5222C>G (p.Ala1741Gly) n.2194-33C>G n.597C>G c.5162C>G (p.Ala1721Gly) c.5117C>G (p.Ala1706Gly) c.1316-33C>G n.518C>G n.589C>G c.5189C>G (p.Ala1730Gly) c.4241C>G (p.Ala1414Gly) c.5417C>G (p.Ala1806Gly) c.5306C>G (p.Ala1769Gly) c.5228C>G (p.Ala1743Gly) c.4880C>G (p.Ala1627Gly) c.4505C>G (p.Ala1502Gly) c.5312C>G (p.Ala1771Gly) c.5414C>G (p.Ala1805Gly) c.5357C>G (p.Ala1786Gly) c.5333C>G (p.Ala1778Gly) c.5288C>G (p.Ala1763Gly) | |
3 | g.53801179C>T | CA353250245 | CACNA1D | c.5222C>T (p.Ala1741Val) n.2194-33C>T n.597C>T c.5162C>T (p.Ala1721Val) c.5117C>T (p.Ala1706Val) c.1316-33C>T n.518C>T n.589C>T c.5189C>T (p.Ala1730Val) c.4241C>T (p.Ala1414Val) c.5417C>T (p.Ala1806Val) c.5306C>T (p.Ala1769Val) c.5228C>T (p.Ala1743Val) c.4880C>T (p.Ala1627Val) c.4505C>T (p.Ala1502Val) c.5312C>T (p.Ala1771Val) c.5414C>T (p.Ala1805Val) c.5357C>T (p.Ala1786Val) c.5333C>T (p.Ala1778Val) c.5288C>T (p.Ala1763Val) | |
3 | g.53801180A>C | CA433895967 | CACNA1D | c.5223A>C (p.Ala1741=) n.2194-32A>C n.598A>C c.5163A>C (p.Ala1721=) c.5118A>C (p.Ala1706=) c.1316-32A>C n.519A>C n.590A>C c.5190A>C (p.Ala1730=) c.4242A>C (p.Ala1414=) c.5418A>C (p.Ala1806=) c.5307A>C (p.Ala1769=) c.5229A>C (p.Ala1743=) c.4881A>C (p.Ala1627=) c.4506A>C (p.Ala1502=) c.5313A>C (p.Ala1771=) c.5415A>C (p.Ala1805=) c.5358A>C (p.Ala1786=) c.5334A>C (p.Ala1778=) c.5289A>C (p.Ala1763=) | |
3 | g.53801180A>G | CA433895970 | CACNA1D | c.5223A>G (p.Ala1741=) n.2194-32A>G n.598A>G c.5163A>G (p.Ala1721=) c.5118A>G (p.Ala1706=) c.1316-32A>G n.519A>G n.590A>G c.5190A>G (p.Ala1730=) c.4242A>G (p.Ala1414=) c.5418A>G (p.Ala1806=) c.5307A>G (p.Ala1769=) c.5229A>G (p.Ala1743=) c.4881A>G (p.Ala1627=) c.4506A>G (p.Ala1502=) c.5313A>G (p.Ala1771=) c.5415A>G (p.Ala1805=) c.5358A>G (p.Ala1786=) c.5334A>G (p.Ala1778=) c.5289A>G (p.Ala1763=) | |
3 | g.53801180A>T | CA433895969 | CACNA1D | c.5223A>T (p.Ala1741=) n.2194-32A>T n.598A>T c.5163A>T (p.Ala1721=) c.5118A>T (p.Ala1706=) c.1316-32A>T n.519A>T n.590A>T c.5190A>T (p.Ala1730=) c.4242A>T (p.Ala1414=) c.5418A>T (p.Ala1806=) c.5307A>T (p.Ala1769=) c.5229A>T (p.Ala1743=) c.4881A>T (p.Ala1627=) c.4506A>T (p.Ala1502=) c.5313A>T (p.Ala1771=) c.5415A>T (p.Ala1805=) c.5358A>T (p.Ala1786=) c.5334A>T (p.Ala1778=) c.5289A>T (p.Ala1763=) | |
3 | g.53801181del | CA2577794094 | CACNA1D | c.5224del (p.Ser1742ValfsTer25) n.2194-31del n.599del c.5164del (p.Ser1722ValfsTer25) c.5119del (p.Ser1707ValfsTer25) c.1316-31del n.520del n.591del c.5191del (p.Ser1731ValfsTer25) c.4243del (p.Ser1415ValfsTer25) c.5419del (p.Ser1807ValfsTer25) c.5308del (p.Ser1770ValfsTer25) c.5230del (p.Ser1744ValfsTer25) c.4882del (p.Ser1628ValfsTer25) c.4507del (p.Ser1503ValfsTer25) c.5314del (p.Ser1772ValfsTer25) c.5416del (p.Ser1806ValfsTer25) c.5359del (p.Ser1787ValfsTer25) c.5335del (p.Ser1779ValfsTer25) c.5290del (p.Ser1764ValfsTer25) | |
3 | g.53801181A>C | CA353250249 | CACNA1D | c.5224A>C (p.Ser1742Arg) n.2194-31A>C n.599A>C c.5164A>C (p.Ser1722Arg) c.5119A>C (p.Ser1707Arg) c.1316-31A>C n.520A>C n.591A>C c.5191A>C (p.Ser1731Arg) c.4243A>C (p.Ser1415Arg) c.5419A>C (p.Ser1807Arg) c.5308A>C (p.Ser1770Arg) c.5230A>C (p.Ser1744Arg) c.4882A>C (p.Ser1628Arg) c.4507A>C (p.Ser1503Arg) c.5314A>C (p.Ser1772Arg) c.5416A>C (p.Ser1806Arg) c.5359A>C (p.Ser1787Arg) c.5335A>C (p.Ser1779Arg) c.5290A>C (p.Ser1764Arg) | |
3 | g.53801181A>G | CA353250251 | CACNA1D | c.5224A>G (p.Ser1742Gly) n.2194-31A>G n.599A>G c.5164A>G (p.Ser1722Gly) c.5119A>G (p.Ser1707Gly) c.1316-31A>G n.520A>G n.591A>G c.5191A>G (p.Ser1731Gly) c.4243A>G (p.Ser1415Gly) c.5419A>G (p.Ser1807Gly) c.5308A>G (p.Ser1770Gly) c.5230A>G (p.Ser1744Gly) c.4882A>G (p.Ser1628Gly) c.4507A>G (p.Ser1503Gly) c.5314A>G (p.Ser1772Gly) c.5416A>G (p.Ser1806Gly) c.5359A>G (p.Ser1787Gly) c.5335A>G (p.Ser1779Gly) c.5290A>G (p.Ser1764Gly) | |
3 | g.53801181A>T | CA353250253 | CACNA1D | c.5224A>T (p.Ser1742Cys) n.2194-31A>T n.599A>T c.5164A>T (p.Ser1722Cys) c.5119A>T (p.Ser1707Cys) c.1316-31A>T n.520A>T n.591A>T c.5191A>T (p.Ser1731Cys) c.4243A>T (p.Ser1415Cys) c.5419A>T (p.Ser1807Cys) c.5308A>T (p.Ser1770Cys) c.5230A>T (p.Ser1744Cys) c.4882A>T (p.Ser1628Cys) c.4507A>T (p.Ser1503Cys) c.5314A>T (p.Ser1772Cys) c.5416A>T (p.Ser1806Cys) c.5359A>T (p.Ser1787Cys) c.5335A>T (p.Ser1779Cys) c.5290A>T (p.Ser1764Cys) | |
3 | g.53801181_53801182insCCAAACACACCCAACACA | CA2756305509 | CACNA1D | c.5224_5225insCCAAACACACCCAACACA (p.Ala1741_Ser1742insThrLysHisThrGlnHis) n.2194-31_2194-30insCCAAACACACCCAACACA n.599_600insCCAAACACACCCAACACA c.5164_5165insCCAAACACACCCAACACA (p.Ala1721_Ser1722insThrLysHisThrGlnHis) c.5119_5120insCCAAACACACCCAACACA (p.Ala1706_Ser1707insThrLysHisThrGlnHis) c.1316-31_1316-30insCCAAACACACCCAACACA n.520_521insCCAAACACACCCAACACA n.591_592insCCAAACACACCCAACACA c.5191_5192insCCAAACACACCCAACACA (p.Ala1730_Ser1731insThrLysHisThrGlnHis) c.4243_4244insCCAAACACACCCAACACA (p.Ala1414_Ser1415insThrLysHisThrGlnHis) c.5419_5420insCCAAACACACCCAACACA (p.Ala1806_Ser1807insThrLysHisThrGlnHis) c.5308_5309insCCAAACACACCCAACACA (p.Ala1769_Ser1770insThrLysHisThrGlnHis) c.5230_5231insCCAAACACACCCAACACA (p.Ala1743_Ser1744insThrLysHisThrGlnHis) c.4882_4883insCCAAACACACCCAACACA (p.Ala1627_Ser1628insThrLysHisThrGlnHis) c.4507_4508insCCAAACACACCCAACACA (p.Ala1502_Ser1503insThrLysHisThrGlnHis) c.5314_5315insCCAAACACACCCAACACA (p.Ala1771_Ser1772insThrLysHisThrGlnHis) c.5416_5417insCCAAACACACCCAACACA (p.Ala1805_Ser1806insThrLysHisThrGlnHis) c.5359_5360insCCAAACACACCCAACACA (p.Ala1786_Ser1787insThrLysHisThrGlnHis) c.5335_5336insCCAAACACACCCAACACA (p.Ala1778_Ser1779insThrLysHisThrGlnHis) c.5290_5291insCCAAACACACCCAACACA (p.Ala1763_Ser1764insThrLysHisThrGlnHis) | |
3 | g.53801182G>A | CA353250258 | CACNA1D | c.5225G>A (p.Ser1742Asn) n.2194-30G>A n.600G>A c.5165G>A (p.Ser1722Asn) c.5120G>A (p.Ser1707Asn) c.1316-30G>A n.521G>A n.592G>A c.5192G>A (p.Ser1731Asn) c.4244G>A (p.Ser1415Asn) c.5420G>A (p.Ser1807Asn) c.5309G>A (p.Ser1770Asn) c.5231G>A (p.Ser1744Asn) c.4883G>A (p.Ser1628Asn) c.4508G>A (p.Ser1503Asn) c.5315G>A (p.Ser1772Asn) c.5417G>A (p.Ser1806Asn) c.5360G>A (p.Ser1787Asn) c.5336G>A (p.Ser1779Asn) c.5291G>A (p.Ser1764Asn) | |
3 | g.53801182G>C | CA2455084 | CACNA1D | c.5225G>C (p.Ser1742Thr) n.2194-30G>C n.600G>C c.5165G>C (p.Ser1722Thr) c.5120G>C (p.Ser1707Thr) c.1316-30G>C n.521G>C n.592G>C c.5192G>C (p.Ser1731Thr) c.4244G>C (p.Ser1415Thr) c.5420G>C (p.Ser1807Thr) c.5309G>C (p.Ser1770Thr) c.5231G>C (p.Ser1744Thr) c.4883G>C (p.Ser1628Thr) c.4508G>C (p.Ser1503Thr) c.5315G>C (p.Ser1772Thr) c.5417G>C (p.Ser1806Thr) c.5360G>C (p.Ser1787Thr) c.5336G>C (p.Ser1779Thr) c.5291G>C (p.Ser1764Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.53801182G= | CA1365484160 | CACNA1D | c.5225G= (p.Ser1742=) n.2194-30G= n.600G= c.5165G= (p.Ser1722=) c.5120G= (p.Ser1707=) c.1316-30G= n.521G= n.592G= c.5192G= (p.Ser1731=) c.4244G= (p.Ser1415=) c.5420G= (p.Ser1807=) c.5309G= (p.Ser1770=) c.5231G= (p.Ser1744=) c.4883G= (p.Ser1628=) c.4508G= (p.Ser1503=) c.5315G= (p.Ser1772=) c.5417G= (p.Ser1806=) c.5360G= (p.Ser1787=) c.5336G= (p.Ser1779=) c.5291G= (p.Ser1764=) | |
3 | g.53801182G>T | CA353250266 | CACNA1D | c.5225G>T (p.Ser1742Ile) n.2194-30G>T n.600G>T c.5165G>T (p.Ser1722Ile) c.5120G>T (p.Ser1707Ile) c.1316-30G>T n.521G>T n.592G>T c.5192G>T (p.Ser1731Ile) c.4244G>T (p.Ser1415Ile) c.5420G>T (p.Ser1807Ile) c.5309G>T (p.Ser1770Ile) c.5231G>T (p.Ser1744Ile) c.4883G>T (p.Ser1628Ile) c.4508G>T (p.Ser1503Ile) c.5315G>T (p.Ser1772Ile) c.5417G>T (p.Ser1806Ile) c.5360G>T (p.Ser1787Ile) c.5336G>T (p.Ser1779Ile) c.5291G>T (p.Ser1764Ile) | |
3 | g.53801183T>A | CA353250271 | CACNA1D | c.5226T>A (p.Ser1742Arg) n.2194-29T>A n.601T>A c.5166T>A (p.Ser1722Arg) c.5121T>A (p.Ser1707Arg) c.1316-29T>A n.522T>A n.593T>A c.5193T>A (p.Ser1731Arg) c.4245T>A (p.Ser1415Arg) c.5421T>A (p.Ser1807Arg) c.5310T>A (p.Ser1770Arg) c.5232T>A (p.Ser1744Arg) c.4884T>A (p.Ser1628Arg) c.4509T>A (p.Ser1503Arg) c.5316T>A (p.Ser1772Arg) c.5418T>A (p.Ser1806Arg) c.5361T>A (p.Ser1787Arg) c.5337T>A (p.Ser1779Arg) c.5292T>A (p.Ser1764Arg) | |
3 | g.53801183T>C | CA433895975 | CACNA1D | c.5226T>C (p.Ser1742=) n.2194-29T>C n.601T>C c.5166T>C (p.Ser1722=) c.5121T>C (p.Ser1707=) c.1316-29T>C n.522T>C n.593T>C c.5193T>C (p.Ser1731=) c.4245T>C (p.Ser1415=) c.5421T>C (p.Ser1807=) c.5310T>C (p.Ser1770=) c.5232T>C (p.Ser1744=) c.4884T>C (p.Ser1628=) c.4509T>C (p.Ser1503=) c.5316T>C (p.Ser1772=) c.5418T>C (p.Ser1806=) c.5361T>C (p.Ser1787=) c.5337T>C (p.Ser1779=) c.5292T>C (p.Ser1764=) | |
3 | g.53801183T>G | CA353250273 | CACNA1D | c.5226T>G (p.Ser1742Arg) n.2194-29T>G n.601T>G c.5166T>G (p.Ser1722Arg) c.5121T>G (p.Ser1707Arg) c.1316-29T>G n.522T>G n.593T>G c.5193T>G (p.Ser1731Arg) c.4245T>G (p.Ser1415Arg) c.5421T>G (p.Ser1807Arg) c.5310T>G (p.Ser1770Arg) c.5232T>G (p.Ser1744Arg) c.4884T>G (p.Ser1628Arg) c.4509T>G (p.Ser1503Arg) c.5316T>G (p.Ser1772Arg) c.5418T>G (p.Ser1806Arg) c.5361T>G (p.Ser1787Arg) c.5337T>G (p.Ser1779Arg) c.5292T>G (p.Ser1764Arg) | gnomAD v4 |
3 | g.53801184G>A | CA353250283 | CACNA1D | c.5227G>A (p.Asp1743Asn) n.2194-28G>A n.602G>A c.5167G>A (p.Asp1723Asn) c.5122G>A (p.Asp1708Asn) c.1316-28G>A n.523G>A n.594G>A c.5194G>A (p.Asp1732Asn) c.4246G>A (p.Asp1416Asn) c.5422G>A (p.Asp1808Asn) c.5311G>A (p.Asp1771Asn) c.5233G>A (p.Asp1745Asn) c.4885G>A (p.Asp1629Asn) c.4510G>A (p.Asp1504Asn) c.5317G>A (p.Asp1773Asn) c.5419G>A (p.Asp1807Asn) c.5362G>A (p.Asp1788Asn) c.5338G>A (p.Asp1780Asn) c.5293G>A (p.Asp1765Asn) | COSMIC COSMIC |
3 | g.53801184G>C | CA353250279 | CACNA1D | c.5227G>C (p.Asp1743His) n.2194-28G>C n.602G>C c.5167G>C (p.Asp1723His) c.5122G>C (p.Asp1708His) c.1316-28G>C n.523G>C n.594G>C c.5194G>C (p.Asp1732His) c.4246G>C (p.Asp1416His) c.5422G>C (p.Asp1808His) c.5311G>C (p.Asp1771His) c.5233G>C (p.Asp1745His) c.4885G>C (p.Asp1629His) c.4510G>C (p.Asp1504His) c.5317G>C (p.Asp1773His) c.5419G>C (p.Asp1807His) c.5362G>C (p.Asp1788His) c.5338G>C (p.Asp1780His) c.5293G>C (p.Asp1765His) | |
3 | g.53801184G>T | CA353250277 | CACNA1D | c.5227G>T (p.Asp1743Tyr) n.2194-28G>T n.602G>T c.5167G>T (p.Asp1723Tyr) c.5122G>T (p.Asp1708Tyr) c.1316-28G>T n.523G>T n.594G>T c.5194G>T (p.Asp1732Tyr) c.4246G>T (p.Asp1416Tyr) c.5422G>T (p.Asp1808Tyr) c.5311G>T (p.Asp1771Tyr) c.5233G>T (p.Asp1745Tyr) c.4885G>T (p.Asp1629Tyr) c.4510G>T (p.Asp1504Tyr) c.5317G>T (p.Asp1773Tyr) c.5419G>T (p.Asp1807Tyr) c.5362G>T (p.Asp1788Tyr) c.5338G>T (p.Asp1780Tyr) c.5293G>T (p.Asp1765Tyr) | |
3 | g.53801185A>C | CA353250287 | CACNA1D | c.5228A>C (p.Asp1743Ala) n.2194-27A>C n.603A>C c.5168A>C (p.Asp1723Ala) c.5123A>C (p.Asp1708Ala) c.1316-27A>C n.524A>C n.595A>C c.5195A>C (p.Asp1732Ala) c.4247A>C (p.Asp1416Ala) c.5423A>C (p.Asp1808Ala) c.5312A>C (p.Asp1771Ala) c.5234A>C (p.Asp1745Ala) c.4886A>C (p.Asp1629Ala) c.4511A>C (p.Asp1504Ala) c.5318A>C (p.Asp1773Ala) c.5420A>C (p.Asp1807Ala) c.5363A>C (p.Asp1788Ala) c.5339A>C (p.Asp1780Ala) c.5294A>C (p.Asp1765Ala) | |
3 | g.53801185A>G | CA353250289 | CACNA1D | c.5228A>G (p.Asp1743Gly) n.2194-27A>G n.603A>G c.5168A>G (p.Asp1723Gly) c.5123A>G (p.Asp1708Gly) c.1316-27A>G n.524A>G n.595A>G c.5195A>G (p.Asp1732Gly) c.4247A>G (p.Asp1416Gly) c.5423A>G (p.Asp1808Gly) c.5312A>G (p.Asp1771Gly) c.5234A>G (p.Asp1745Gly) c.4886A>G (p.Asp1629Gly) c.4511A>G (p.Asp1504Gly) c.5318A>G (p.Asp1773Gly) c.5420A>G (p.Asp1807Gly) c.5363A>G (p.Asp1788Gly) c.5339A>G (p.Asp1780Gly) c.5294A>G (p.Asp1765Gly) | |
3 | g.53801185A>T | CA353250292 | CACNA1D | c.5228A>T (p.Asp1743Val) n.2194-27A>T n.603A>T c.5168A>T (p.Asp1723Val) c.5123A>T (p.Asp1708Val) c.1316-27A>T n.524A>T n.595A>T c.5195A>T (p.Asp1732Val) c.4247A>T (p.Asp1416Val) c.5423A>T (p.Asp1808Val) c.5312A>T (p.Asp1771Val) c.5234A>T (p.Asp1745Val) c.4886A>T (p.Asp1629Val) c.4511A>T (p.Asp1504Val) c.5318A>T (p.Asp1773Val) c.5420A>T (p.Asp1807Val) c.5363A>T (p.Asp1788Val) c.5339A>T (p.Asp1780Val) c.5294A>T (p.Asp1765Val) | |
3 | g.53801186T>A | CA353250295 | CACNA1D | c.5229T>A (p.Asp1743Glu) n.2194-26T>A n.604T>A c.5169T>A (p.Asp1723Glu) c.5124T>A (p.Asp1708Glu) c.1316-26T>A n.525T>A n.596T>A c.5196T>A (p.Asp1732Glu) c.4248T>A (p.Asp1416Glu) c.5424T>A (p.Asp1808Glu) c.5313T>A (p.Asp1771Glu) c.5235T>A (p.Asp1745Glu) c.4887T>A (p.Asp1629Glu) c.4512T>A (p.Asp1504Glu) c.5319T>A (p.Asp1773Glu) c.5421T>A (p.Asp1807Glu) c.5364T>A (p.Asp1788Glu) c.5340T>A (p.Asp1780Glu) c.5295T>A (p.Asp1765Glu) | |
3 | g.53801186T>C | CA2455085 | CACNA1D | c.5229T>C (p.Asp1743=) n.2194-26T>C n.604T>C c.5169T>C (p.Asp1723=) c.5124T>C (p.Asp1708=) c.1316-26T>C n.525T>C n.596T>C c.5196T>C (p.Asp1732=) c.4248T>C (p.Asp1416=) c.5424T>C (p.Asp1808=) c.5313T>C (p.Asp1771=) c.5235T>C (p.Asp1745=) c.4887T>C (p.Asp1629=) c.4512T>C (p.Asp1504=) c.5319T>C (p.Asp1773=) c.5421T>C (p.Asp1807=) c.5364T>C (p.Asp1788=) c.5340T>C (p.Asp1780=) c.5295T>C (p.Asp1765=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.53801186T>G | CA353250301 | CACNA1D | c.5229T>G (p.Asp1743Glu) n.2194-26T>G n.604T>G c.5169T>G (p.Asp1723Glu) c.5124T>G (p.Asp1708Glu) c.1316-26T>G n.525T>G n.596T>G c.5196T>G (p.Asp1732Glu) c.4248T>G (p.Asp1416Glu) c.5424T>G (p.Asp1808Glu) c.5313T>G (p.Asp1771Glu) c.5235T>G (p.Asp1745Glu) c.4887T>G (p.Asp1629Glu) c.4512T>G (p.Asp1504Glu) c.5319T>G (p.Asp1773Glu) c.5421T>G (p.Asp1807Glu) c.5364T>G (p.Asp1788Glu) c.5340T>G (p.Asp1780Glu) c.5295T>G (p.Asp1765Glu) | |
3 | g.53801186T= | CA1365484161 | CACNA1D | c.5229T= (p.Asp1743=) n.2194-26T= n.604T= c.5169T= (p.Asp1723=) c.5124T= (p.Asp1708=) c.1316-26T= n.525T= n.596T= c.5196T= (p.Asp1732=) c.4248T= (p.Asp1416=) c.5424T= (p.Asp1808=) c.5313T= (p.Asp1771=) c.5235T= (p.Asp1745=) c.4887T= (p.Asp1629=) c.4512T= (p.Asp1504=) c.5319T= (p.Asp1773=) c.5421T= (p.Asp1807=) c.5364T= (p.Asp1788=) c.5340T= (p.Asp1780=) c.5295T= (p.Asp1765=) | |
3 | g.53801187A>C | CA353250305 | CACNA1D | c.5230A>C (p.Thr1744Pro) n.2194-25A>C n.605A>C c.5170A>C (p.Thr1724Pro) c.5125A>C (p.Thr1709Pro) c.1316-25A>C n.526A>C n.597A>C c.5197A>C (p.Thr1733Pro) c.4249A>C (p.Thr1417Pro) c.5425A>C (p.Thr1809Pro) c.5314A>C (p.Thr1772Pro) c.5236A>C (p.Thr1746Pro) c.4888A>C (p.Thr1630Pro) c.4513A>C (p.Thr1505Pro) c.5320A>C (p.Thr1774Pro) c.5422A>C (p.Thr1808Pro) c.5365A>C (p.Thr1789Pro) c.5341A>C (p.Thr1781Pro) c.5296A>C (p.Thr1766Pro) | |
3 | g.53801187A>G | CA353250308 | CACNA1D | c.5230A>G (p.Thr1744Ala) n.2194-25A>G n.605A>G c.5170A>G (p.Thr1724Ala) c.5125A>G (p.Thr1709Ala) c.1316-25A>G n.526A>G n.597A>G c.5197A>G (p.Thr1733Ala) c.4249A>G (p.Thr1417Ala) c.5425A>G (p.Thr1809Ala) c.5314A>G (p.Thr1772Ala) c.5236A>G (p.Thr1746Ala) c.4888A>G (p.Thr1630Ala) c.4513A>G (p.Thr1505Ala) c.5320A>G (p.Thr1774Ala) c.5422A>G (p.Thr1808Ala) c.5365A>G (p.Thr1789Ala) c.5341A>G (p.Thr1781Ala) c.5296A>G (p.Thr1766Ala) | gnomAD v4 |
3 | g.53801187A>T | CA353250309 | CACNA1D | c.5230A>T (p.Thr1744Ser) n.2194-25A>T n.605A>T c.5170A>T (p.Thr1724Ser) c.5125A>T (p.Thr1709Ser) c.1316-25A>T n.526A>T n.597A>T c.5197A>T (p.Thr1733Ser) c.4249A>T (p.Thr1417Ser) c.5425A>T (p.Thr1809Ser) c.5314A>T (p.Thr1772Ser) c.5236A>T (p.Thr1746Ser) c.4888A>T (p.Thr1630Ser) c.4513A>T (p.Thr1505Ser) c.5320A>T (p.Thr1774Ser) c.5422A>T (p.Thr1808Ser) c.5365A>T (p.Thr1789Ser) c.5341A>T (p.Thr1781Ser) c.5296A>T (p.Thr1766Ser) | |
3 | g.53801188C>A | CA353250318 | CACNA1D | c.5231C>A (p.Thr1744Asn) n.2194-24C>A n.606C>A c.5171C>A (p.Thr1724Asn) c.5126C>A (p.Thr1709Asn) c.1316-24C>A n.527C>A n.598C>A c.5198C>A (p.Thr1733Asn) c.4250C>A (p.Thr1417Asn) c.5426C>A (p.Thr1809Asn) c.5315C>A (p.Thr1772Asn) c.5237C>A (p.Thr1746Asn) c.4889C>A (p.Thr1630Asn) c.4514C>A (p.Thr1505Asn) c.5321C>A (p.Thr1774Asn) c.5423C>A (p.Thr1808Asn) c.5366C>A (p.Thr1789Asn) c.5342C>A (p.Thr1781Asn) c.5297C>A (p.Thr1766Asn) | |
3 | g.53801188C>G | CA353250320 | CACNA1D | c.5231C>G (p.Thr1744Ser) n.2194-24C>G n.606C>G c.5171C>G (p.Thr1724Ser) c.5126C>G (p.Thr1709Ser) c.1316-24C>G n.527C>G n.598C>G c.5198C>G (p.Thr1733Ser) c.4250C>G (p.Thr1417Ser) c.5426C>G (p.Thr1809Ser) c.5315C>G (p.Thr1772Ser) c.5237C>G (p.Thr1746Ser) c.4889C>G (p.Thr1630Ser) c.4514C>G (p.Thr1505Ser) c.5321C>G (p.Thr1774Ser) c.5423C>G (p.Thr1808Ser) c.5366C>G (p.Thr1789Ser) c.5342C>G (p.Thr1781Ser) c.5297C>G (p.Thr1766Ser) | |
3 | g.53801188C>T | CA353250324 | CACNA1D | c.5231C>T (p.Thr1744Ile) n.2194-24C>T n.606C>T c.5171C>T (p.Thr1724Ile) c.5126C>T (p.Thr1709Ile) c.1316-24C>T n.527C>T n.598C>T c.5198C>T (p.Thr1733Ile) c.4250C>T (p.Thr1417Ile) c.5426C>T (p.Thr1809Ile) c.5315C>T (p.Thr1772Ile) c.5237C>T (p.Thr1746Ile) c.4889C>T (p.Thr1630Ile) c.4514C>T (p.Thr1505Ile) c.5321C>T (p.Thr1774Ile) c.5423C>T (p.Thr1808Ile) c.5366C>T (p.Thr1789Ile) c.5342C>T (p.Thr1781Ile) c.5297C>T (p.Thr1766Ile) | |
3 | g.53801189T>A | CA433895991 | CACNA1D | c.5232T>A (p.Thr1744=) n.2194-23T>A n.607T>A c.5172T>A (p.Thr1724=) c.5127T>A (p.Thr1709=) c.1316-23T>A n.528T>A n.599T>A c.5199T>A (p.Thr1733=) c.4251T>A (p.Thr1417=) c.5427T>A (p.Thr1809=) c.5316T>A (p.Thr1772=) c.5238T>A (p.Thr1746=) c.4890T>A (p.Thr1630=) c.4515T>A (p.Thr1505=) c.5322T>A (p.Thr1774=) c.5424T>A (p.Thr1808=) c.5367T>A (p.Thr1789=) c.5343T>A (p.Thr1781=) c.5298T>A (p.Thr1766=) | |
3 | g.53801189T>C | CA433895993 | CACNA1D | c.5232T>C (p.Thr1744=) n.2194-23T>C n.607T>C c.5172T>C (p.Thr1724=) c.5127T>C (p.Thr1709=) c.1316-23T>C n.528T>C n.599T>C c.5199T>C (p.Thr1733=) c.4251T>C (p.Thr1417=) c.5427T>C (p.Thr1809=) c.5316T>C (p.Thr1772=) c.5238T>C (p.Thr1746=) c.4890T>C (p.Thr1630=) c.4515T>C (p.Thr1505=) c.5322T>C (p.Thr1774=) c.5424T>C (p.Thr1808=) c.5367T>C (p.Thr1789=) c.5343T>C (p.Thr1781=) c.5298T>C (p.Thr1766=) | |
3 | g.53801189T>G | CA433895994 | CACNA1D | c.5232T>G (p.Thr1744=) n.2194-23T>G n.607T>G c.5172T>G (p.Thr1724=) c.5127T>G (p.Thr1709=) c.1316-23T>G n.528T>G n.599T>G c.5199T>G (p.Thr1733=) c.4251T>G (p.Thr1417=) c.5427T>G (p.Thr1809=) c.5316T>G (p.Thr1772=) c.5238T>G (p.Thr1746=) c.4890T>G (p.Thr1630=) c.4515T>G (p.Thr1505=) c.5322T>G (p.Thr1774=) c.5424T>G (p.Thr1808=) c.5367T>G (p.Thr1789=) c.5343T>G (p.Thr1781=) c.5298T>G (p.Thr1766=) | |
3 | g.53801190G>A | CA353250333 | CACNA1D | c.5233G>A (p.Glu1745Lys) n.2194-22G>A n.608G>A c.5173G>A (p.Glu1725Lys) c.5128G>A (p.Glu1710Lys) c.1316-22G>A n.529G>A n.600G>A c.5200G>A (p.Glu1734Lys) c.4252G>A (p.Glu1418Lys) c.5428G>A (p.Glu1810Lys) c.5317G>A (p.Glu1773Lys) c.5239G>A (p.Glu1747Lys) c.4891G>A (p.Glu1631Lys) c.4516G>A (p.Glu1506Lys) c.5323G>A (p.Glu1775Lys) c.5425G>A (p.Glu1809Lys) c.5368G>A (p.Glu1790Lys) c.5344G>A (p.Glu1782Lys) c.5299G>A (p.Glu1767Lys) | |
3 | g.53801190G>C | CA353250331 | CACNA1D | c.5233G>C (p.Glu1745Gln) n.2194-22G>C n.608G>C c.5173G>C (p.Glu1725Gln) c.5128G>C (p.Glu1710Gln) c.1316-22G>C n.529G>C n.600G>C c.5200G>C (p.Glu1734Gln) c.4252G>C (p.Glu1418Gln) c.5428G>C (p.Glu1810Gln) c.5317G>C (p.Glu1773Gln) c.5239G>C (p.Glu1747Gln) c.4891G>C (p.Glu1631Gln) c.4516G>C (p.Glu1506Gln) c.5323G>C (p.Glu1775Gln) c.5425G>C (p.Glu1809Gln) c.5368G>C (p.Glu1790Gln) c.5344G>C (p.Glu1782Gln) c.5299G>C (p.Glu1767Gln) | |
3 | g.53801190G>T | CA353250329 | CACNA1D | c.5233G>T (p.Glu1745Ter) n.2194-22G>T n.608G>T c.5173G>T (p.Glu1725Ter) c.5128G>T (p.Glu1710Ter) c.1316-22G>T n.529G>T n.600G>T c.5200G>T (p.Glu1734Ter) c.4252G>T (p.Glu1418Ter) c.5428G>T (p.Glu1810Ter) c.5317G>T (p.Glu1773Ter) c.5239G>T (p.Glu1747Ter) c.4891G>T (p.Glu1631Ter) c.4516G>T (p.Glu1506Ter) c.5323G>T (p.Glu1775Ter) c.5425G>T (p.Glu1809Ter) c.5368G>T (p.Glu1790Ter) c.5344G>T (p.Glu1782Ter) c.5299G>T (p.Glu1767Ter) | |
3 | g.53801191A>C | CA353250337 | CACNA1D | c.5234A>C (p.Glu1745Ala) n.2194-21A>C n.609A>C c.5174A>C (p.Glu1725Ala) c.5129A>C (p.Glu1710Ala) c.1316-21A>C n.530A>C n.601A>C c.5201A>C (p.Glu1734Ala) c.4253A>C (p.Glu1418Ala) c.5429A>C (p.Glu1810Ala) c.5318A>C (p.Glu1773Ala) c.5240A>C (p.Glu1747Ala) c.4892A>C (p.Glu1631Ala) c.4517A>C (p.Glu1506Ala) c.5324A>C (p.Glu1775Ala) c.5426A>C (p.Glu1809Ala) c.5369A>C (p.Glu1790Ala) c.5345A>C (p.Glu1782Ala) c.5300A>C (p.Glu1767Ala) | |
3 | g.53801191A>G | CA353250344 | CACNA1D | c.5234A>G (p.Glu1745Gly) n.2194-21A>G n.609A>G c.5174A>G (p.Glu1725Gly) c.5129A>G (p.Glu1710Gly) c.1316-21A>G n.530A>G n.601A>G c.5201A>G (p.Glu1734Gly) c.4253A>G (p.Glu1418Gly) c.5429A>G (p.Glu1810Gly) c.5318A>G (p.Glu1773Gly) c.5240A>G (p.Glu1747Gly) c.4892A>G (p.Glu1631Gly) c.4517A>G (p.Glu1506Gly) c.5324A>G (p.Glu1775Gly) c.5426A>G (p.Glu1809Gly) c.5369A>G (p.Glu1790Gly) c.5345A>G (p.Glu1782Gly) c.5300A>G (p.Glu1767Gly) | |
3 | g.53801191A>T | CA353250354 | CACNA1D | c.5234A>T (p.Glu1745Val) n.2194-21A>T n.609A>T c.5174A>T (p.Glu1725Val) c.5129A>T (p.Glu1710Val) c.1316-21A>T n.530A>T n.601A>T c.5201A>T (p.Glu1734Val) c.4253A>T (p.Glu1418Val) c.5429A>T (p.Glu1810Val) c.5318A>T (p.Glu1773Val) c.5240A>T (p.Glu1747Val) c.4892A>T (p.Glu1631Val) c.4517A>T (p.Glu1506Val) c.5324A>T (p.Glu1775Val) c.5426A>T (p.Glu1809Val) c.5369A>T (p.Glu1790Val) c.5345A>T (p.Glu1782Val) c.5300A>T (p.Glu1767Val) | |
3 | g.53801192G>A | CA433895999 | CACNA1D | c.5235G>A (p.Glu1745=) n.2194-20G>A n.610G>A c.5175G>A (p.Glu1725=) c.5130G>A (p.Glu1710=) c.1316-20G>A n.531G>A n.602G>A c.5202G>A (p.Glu1734=) c.4254G>A (p.Glu1418=) c.5430G>A (p.Glu1810=) c.5319G>A (p.Glu1773=) c.5241G>A (p.Glu1747=) c.4893G>A (p.Glu1631=) c.4518G>A (p.Glu1506=) c.5325G>A (p.Glu1775=) c.5427G>A (p.Glu1809=) c.5370G>A (p.Glu1790=) c.5346G>A (p.Glu1782=) c.5301G>A (p.Glu1767=) | |
3 | g.53801192G>C | CA353250357 | CACNA1D | c.5235G>C (p.Glu1745Asp) n.2194-20G>C n.610G>C c.5175G>C (p.Glu1725Asp) c.5130G>C (p.Glu1710Asp) c.1316-20G>C n.531G>C n.602G>C c.5202G>C (p.Glu1734Asp) c.4254G>C (p.Glu1418Asp) c.5430G>C (p.Glu1810Asp) c.5319G>C (p.Glu1773Asp) c.5241G>C (p.Glu1747Asp) c.4893G>C (p.Glu1631Asp) c.4518G>C (p.Glu1506Asp) c.5325G>C (p.Glu1775Asp) c.5427G>C (p.Glu1809Asp) c.5370G>C (p.Glu1790Asp) c.5346G>C (p.Glu1782Asp) c.5301G>C (p.Glu1767Asp) | |
3 | g.53801192G>T | CA353250360 | CACNA1D | c.5235G>T (p.Glu1745Asp) n.2194-20G>T n.610G>T c.5175G>T (p.Glu1725Asp) c.5130G>T (p.Glu1710Asp) c.1316-20G>T n.531G>T n.602G>T c.5202G>T (p.Glu1734Asp) c.4254G>T (p.Glu1418Asp) c.5430G>T (p.Glu1810Asp) c.5319G>T (p.Glu1773Asp) c.5241G>T (p.Glu1747Asp) c.4893G>T (p.Glu1631Asp) c.4518G>T (p.Glu1506Asp) c.5325G>T (p.Glu1775Asp) c.5427G>T (p.Glu1809Asp) c.5370G>T (p.Glu1790Asp) c.5346G>T (p.Glu1782Asp) c.5301G>T (p.Glu1767Asp) | |
3 | g.53801193A>C | CA353250363 | CACNA1D | c.5236A>C (p.Lys1746Gln) n.2194-19A>C n.611A>C c.5176A>C (p.Lys1726Gln) c.5131A>C (p.Lys1711Gln) c.1316-19A>C n.532A>C n.603A>C c.5203A>C (p.Lys1735Gln) c.4255A>C (p.Lys1419Gln) c.5431A>C (p.Lys1811Gln) c.5320A>C (p.Lys1774Gln) c.5242A>C (p.Lys1748Gln) c.4894A>C (p.Lys1632Gln) c.4519A>C (p.Lys1507Gln) c.5326A>C (p.Lys1776Gln) c.5428A>C (p.Lys1810Gln) c.5371A>C (p.Lys1791Gln) c.5347A>C (p.Lys1783Gln) c.5302A>C (p.Lys1768Gln) | |
3 | g.53801193A>G | CA353250368 | CACNA1D | c.5236A>G (p.Lys1746Glu) n.2194-19A>G n.611A>G c.5176A>G (p.Lys1726Glu) c.5131A>G (p.Lys1711Glu) c.1316-19A>G n.532A>G n.603A>G c.5203A>G (p.Lys1735Glu) c.4255A>G (p.Lys1419Glu) c.5431A>G (p.Lys1811Glu) c.5320A>G (p.Lys1774Glu) c.5242A>G (p.Lys1748Glu) c.4894A>G (p.Lys1632Glu) c.4519A>G (p.Lys1507Glu) c.5326A>G (p.Lys1776Glu) c.5428A>G (p.Lys1810Glu) c.5371A>G (p.Lys1791Glu) c.5347A>G (p.Lys1783Glu) c.5302A>G (p.Lys1768Glu) | |
3 | g.53801193A>T | CA353250370 | CACNA1D | c.5236A>T (p.Lys1746Ter) n.2194-19A>T n.611A>T c.5176A>T (p.Lys1726Ter) c.5131A>T (p.Lys1711Ter) c.1316-19A>T n.532A>T n.603A>T c.5203A>T (p.Lys1735Ter) c.4255A>T (p.Lys1419Ter) c.5431A>T (p.Lys1811Ter) c.5320A>T (p.Lys1774Ter) c.5242A>T (p.Lys1748Ter) c.4894A>T (p.Lys1632Ter) c.4519A>T (p.Lys1507Ter) c.5326A>T (p.Lys1776Ter) c.5428A>T (p.Lys1810Ter) c.5371A>T (p.Lys1791Ter) c.5347A>T (p.Lys1783Ter) c.5302A>T (p.Lys1768Ter) | |
3 | g.53801194A>C | CA353250374 | CACNA1D | c.5237A>C (p.Lys1746Thr) n.2194-18A>C n.612A>C c.5177A>C (p.Lys1726Thr) c.5132A>C (p.Lys1711Thr) c.1316-18A>C n.533A>C n.604A>C c.5204A>C (p.Lys1735Thr) c.4256A>C (p.Lys1419Thr) c.5432A>C (p.Lys1811Thr) c.5321A>C (p.Lys1774Thr) c.5243A>C (p.Lys1748Thr) c.4895A>C (p.Lys1632Thr) c.4520A>C (p.Lys1507Thr) c.5327A>C (p.Lys1776Thr) c.5429A>C (p.Lys1810Thr) c.5372A>C (p.Lys1791Thr) c.5348A>C (p.Lys1783Thr) c.5303A>C (p.Lys1768Thr) | |
3 | g.53801194A>G | CA353250378 | CACNA1D | c.5237A>G (p.Lys1746Arg) n.2194-18A>G n.612A>G c.5177A>G (p.Lys1726Arg) c.5132A>G (p.Lys1711Arg) c.1316-18A>G n.533A>G n.604A>G c.5204A>G (p.Lys1735Arg) c.4256A>G (p.Lys1419Arg) c.5432A>G (p.Lys1811Arg) c.5321A>G (p.Lys1774Arg) c.5243A>G (p.Lys1748Arg) c.4895A>G (p.Lys1632Arg) c.4520A>G (p.Lys1507Arg) c.5327A>G (p.Lys1776Arg) c.5429A>G (p.Lys1810Arg) c.5372A>G (p.Lys1791Arg) c.5348A>G (p.Lys1783Arg) c.5303A>G (p.Lys1768Arg) | |
3 | g.53801194A>T | CA353250380 | CACNA1D | c.5237A>T (p.Lys1746Ile) n.2194-18A>T n.612A>T c.5177A>T (p.Lys1726Ile) c.5132A>T (p.Lys1711Ile) c.1316-18A>T n.533A>T n.604A>T c.5204A>T (p.Lys1735Ile) c.4256A>T (p.Lys1419Ile) c.5432A>T (p.Lys1811Ile) c.5321A>T (p.Lys1774Ile) c.5243A>T (p.Lys1748Ile) c.4895A>T (p.Lys1632Ile) c.4520A>T (p.Lys1507Ile) c.5327A>T (p.Lys1776Ile) c.5429A>T (p.Lys1810Ile) c.5372A>T (p.Lys1791Ile) c.5348A>T (p.Lys1783Ile) c.5303A>T (p.Lys1768Ile) | |
3 | g.53801195A>C | CA353250383 | CACNA1D | c.5238A>C (p.Lys1746Asn) n.2194-17A>C n.613A>C c.5178A>C (p.Lys1726Asn) c.5133A>C (p.Lys1711Asn) c.1316-17A>C n.534A>C n.605A>C c.5205A>C (p.Lys1735Asn) c.4257A>C (p.Lys1419Asn) c.5433A>C (p.Lys1811Asn) c.5322A>C (p.Lys1774Asn) c.5244A>C (p.Lys1748Asn) c.4896A>C (p.Lys1632Asn) c.4521A>C (p.Lys1507Asn) c.5328A>C (p.Lys1776Asn) c.5430A>C (p.Lys1810Asn) c.5373A>C (p.Lys1791Asn) c.5349A>C (p.Lys1783Asn) c.5304A>C (p.Lys1768Asn) | |
3 | g.53801195A>G | CA433896006 | CACNA1D | c.5238A>G (p.Lys1746=) n.2194-17A>G n.613A>G c.5178A>G (p.Lys1726=) c.5133A>G (p.Lys1711=) c.1316-17A>G n.534A>G n.605A>G c.5205A>G (p.Lys1735=) c.4257A>G (p.Lys1419=) c.5433A>G (p.Lys1811=) c.5322A>G (p.Lys1774=) c.5244A>G (p.Lys1748=) c.4896A>G (p.Lys1632=) c.4521A>G (p.Lys1507=) c.5328A>G (p.Lys1776=) c.5430A>G (p.Lys1810=) c.5373A>G (p.Lys1791=) c.5349A>G (p.Lys1783=) c.5304A>G (p.Lys1768=) | |
3 | g.53801195A>T | CA353250386 | CACNA1D | c.5238A>T (p.Lys1746Asn) n.2194-17A>T n.613A>T c.5178A>T (p.Lys1726Asn) c.5133A>T (p.Lys1711Asn) c.1316-17A>T n.534A>T n.605A>T c.5205A>T (p.Lys1735Asn) c.4257A>T (p.Lys1419Asn) c.5433A>T (p.Lys1811Asn) c.5322A>T (p.Lys1774Asn) c.5244A>T (p.Lys1748Asn) c.4896A>T (p.Lys1632Asn) c.4521A>T (p.Lys1507Asn) c.5328A>T (p.Lys1776Asn) c.5430A>T (p.Lys1810Asn) c.5373A>T (p.Lys1791Asn) c.5349A>T (p.Lys1783Asn) c.5304A>T (p.Lys1768Asn) | |
3 | g.53801196C>A | CA353250391 | CACNA1D | c.5239C>A (p.Pro1747Thr) n.2194-16C>A n.614C>A c.5179C>A (p.Pro1727Thr) c.5134C>A (p.Pro1712Thr) c.1316-16C>A n.535C>A n.606C>A c.5206C>A (p.Pro1736Thr) c.4258C>A (p.Pro1420Thr) c.5434C>A (p.Pro1812Thr) c.5323C>A (p.Pro1775Thr) c.5245C>A (p.Pro1749Thr) c.4897C>A (p.Pro1633Thr) c.4522C>A (p.Pro1508Thr) c.5329C>A (p.Pro1777Thr) c.5431C>A (p.Pro1811Thr) c.5374C>A (p.Pro1792Thr) c.5350C>A (p.Pro1784Thr) c.5305C>A (p.Pro1769Thr) | |
3 | g.53801196C>G | CA353250395 | CACNA1D | c.5239C>G (p.Pro1747Ala) n.2194-16C>G n.614C>G c.5179C>G (p.Pro1727Ala) c.5134C>G (p.Pro1712Ala) c.1316-16C>G n.535C>G n.606C>G c.5206C>G (p.Pro1736Ala) c.4258C>G (p.Pro1420Ala) c.5434C>G (p.Pro1812Ala) c.5323C>G (p.Pro1775Ala) c.5245C>G (p.Pro1749Ala) c.4897C>G (p.Pro1633Ala) c.4522C>G (p.Pro1508Ala) c.5329C>G (p.Pro1777Ala) c.5431C>G (p.Pro1811Ala) c.5374C>G (p.Pro1792Ala) c.5350C>G (p.Pro1784Ala) c.5305C>G (p.Pro1769Ala) | |
3 | g.53801196C>T | CA353250389 | CACNA1D | c.5239C>T (p.Pro1747Ser) n.2194-16C>T n.614C>T c.5179C>T (p.Pro1727Ser) c.5134C>T (p.Pro1712Ser) c.1316-16C>T n.535C>T n.606C>T c.5206C>T (p.Pro1736Ser) c.4258C>T (p.Pro1420Ser) c.5434C>T (p.Pro1812Ser) c.5323C>T (p.Pro1775Ser) c.5245C>T (p.Pro1749Ser) c.4897C>T (p.Pro1633Ser) c.4522C>T (p.Pro1508Ser) c.5329C>T (p.Pro1777Ser) c.5431C>T (p.Pro1811Ser) c.5374C>T (p.Pro1792Ser) c.5350C>T (p.Pro1784Ser) c.5305C>T (p.Pro1769Ser) | |
3 | g.53801197C>A | CA353250398 | CACNA1D | c.5240C>A (p.Pro1747Gln) n.2194-15C>A n.615C>A c.5180C>A (p.Pro1727Gln) c.5135C>A (p.Pro1712Gln) c.1316-15C>A n.536C>A n.607C>A c.5207C>A (p.Pro1736Gln) c.4259C>A (p.Pro1420Gln) c.5435C>A (p.Pro1812Gln) c.5324C>A (p.Pro1775Gln) c.5246C>A (p.Pro1749Gln) c.4898C>A (p.Pro1633Gln) c.4523C>A (p.Pro1508Gln) c.5330C>A (p.Pro1777Gln) c.5432C>A (p.Pro1811Gln) c.5375C>A (p.Pro1792Gln) c.5351C>A (p.Pro1784Gln) c.5306C>A (p.Pro1769Gln) | |
3 | g.53801197C= | CA1365484162 | CACNA1D | c.5240C= (p.Pro1747=) n.2194-15C= n.615C= c.5180C= (p.Pro1727=) c.5135C= (p.Pro1712=) c.1316-15C= n.536C= n.607C= c.5207C= (p.Pro1736=) c.4259C= (p.Pro1420=) c.5435C= (p.Pro1812=) c.5324C= (p.Pro1775=) c.5246C= (p.Pro1749=) c.4898C= (p.Pro1633=) c.4523C= (p.Pro1508=) c.5330C= (p.Pro1777=) c.5432C= (p.Pro1811=) c.5375C= (p.Pro1792=) c.5351C= (p.Pro1784=) c.5306C= (p.Pro1769=) | |
3 | g.53801197C>G | CA353250405 | CACNA1D | c.5240C>G (p.Pro1747Arg) n.2194-15C>G n.615C>G c.5180C>G (p.Pro1727Arg) c.5135C>G (p.Pro1712Arg) c.1316-15C>G n.536C>G n.607C>G c.5207C>G (p.Pro1736Arg) c.4259C>G (p.Pro1420Arg) c.5435C>G (p.Pro1812Arg) c.5324C>G (p.Pro1775Arg) c.5246C>G (p.Pro1749Arg) c.4898C>G (p.Pro1633Arg) c.4523C>G (p.Pro1508Arg) c.5330C>G (p.Pro1777Arg) c.5432C>G (p.Pro1811Arg) c.5375C>G (p.Pro1792Arg) c.5351C>G (p.Pro1784Arg) c.5306C>G (p.Pro1769Arg) | |
3 | g.53801197C>T | CA2455086 | CACNA1D | c.5240C>T (p.Pro1747Leu) n.2194-15C>T n.615C>T c.5180C>T (p.Pro1727Leu) c.5135C>T (p.Pro1712Leu) c.1316-15C>T n.536C>T n.607C>T c.5207C>T (p.Pro1736Leu) c.4259C>T (p.Pro1420Leu) c.5435C>T (p.Pro1812Leu) c.5324C>T (p.Pro1775Leu) c.5246C>T (p.Pro1749Leu) c.4898C>T (p.Pro1633Leu) c.4523C>T (p.Pro1508Leu) c.5330C>T (p.Pro1777Leu) c.5432C>T (p.Pro1811Leu) c.5375C>T (p.Pro1792Leu) c.5351C>T (p.Pro1784Leu) c.5306C>T (p.Pro1769Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.53801198G>A | CA2455087 | CACNA1D | c.5241G>A (p.Pro1747=) n.2194-14G>A n.616G>A c.5181G>A (p.Pro1727=) c.5136G>A (p.Pro1712=) c.1316-14G>A n.537G>A n.608G>A c.5208G>A (p.Pro1736=) c.4260G>A (p.Pro1420=) c.5436G>A (p.Pro1812=) c.5325G>A (p.Pro1775=) c.5247G>A (p.Pro1749=) c.4899G>A (p.Pro1633=) c.4524G>A (p.Pro1508=) c.5331G>A (p.Pro1777=) c.5433G>A (p.Pro1811=) c.5376G>A (p.Pro1792=) c.5352G>A (p.Pro1784=) c.5307G>A (p.Pro1769=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
3 | g.53801198G>C | CA433896010 | CACNA1D | c.5241G>C (p.Pro1747=) n.2194-14G>C n.616G>C c.5181G>C (p.Pro1727=) c.5136G>C (p.Pro1712=) c.1316-14G>C n.537G>C n.608G>C c.5208G>C (p.Pro1736=) c.4260G>C (p.Pro1420=) c.5436G>C (p.Pro1812=) c.5325G>C (p.Pro1775=) c.5247G>C (p.Pro1749=) c.4899G>C (p.Pro1633=) c.4524G>C (p.Pro1508=) c.5331G>C (p.Pro1777=) c.5433G>C (p.Pro1811=) c.5376G>C (p.Pro1792=) c.5352G>C (p.Pro1784=) c.5307G>C (p.Pro1769=) | |
3 | g.53801198G= | CA1365484163 | CACNA1D | c.5241G= (p.Pro1747=) n.2194-14G= n.616G= c.5181G= (p.Pro1727=) c.5136G= (p.Pro1712=) c.1316-14G= n.537G= n.608G= c.5208G= (p.Pro1736=) c.4260G= (p.Pro1420=) c.5436G= (p.Pro1812=) c.5325G= (p.Pro1775=) c.5247G= (p.Pro1749=) c.4899G= (p.Pro1633=) c.4524G= (p.Pro1508=) c.5331G= (p.Pro1777=) c.5433G= (p.Pro1811=) c.5376G= (p.Pro1792=) c.5352G= (p.Pro1784=) c.5307G= (p.Pro1769=) | |
3 | g.53801198G>T | CA433896015 | CACNA1D | c.5241G>T (p.Pro1747=) n.2194-14G>T n.616G>T c.5181G>T (p.Pro1727=) c.5136G>T (p.Pro1712=) c.1316-14G>T n.537G>T n.608G>T c.5208G>T (p.Pro1736=) c.4260G>T (p.Pro1420=) c.5436G>T (p.Pro1812=) c.5325G>T (p.Pro1775=) c.5247G>T (p.Pro1749=) c.4899G>T (p.Pro1633=) c.4524G>T (p.Pro1508=) c.5331G>T (p.Pro1777=) c.5433G>T (p.Pro1811=) c.5376G>T (p.Pro1792=) c.5352G>T (p.Pro1784=) c.5307G>T (p.Pro1769=) | dbSNP |
3 | g.53801199C>A | CA353250412 | CACNA1D | c.5242C>A (p.Leu1748Met) n.2194-13C>A n.617C>A c.5182C>A (p.Leu1728Met) c.5137C>A (p.Leu1713Met) c.1316-13C>A n.538C>A n.609C>A c.5209C>A (p.Leu1737Met) c.4261C>A (p.Leu1421Met) c.5437C>A (p.Leu1813Met) c.5326C>A (p.Leu1776Met) c.5248C>A (p.Leu1750Met) c.4900C>A (p.Leu1634Met) c.4525C>A (p.Leu1509Met) c.5332C>A (p.Leu1778Met) c.5434C>A (p.Leu1812Met) c.5377C>A (p.Leu1793Met) c.5353C>A (p.Leu1785Met) c.5308C>A (p.Leu1770Met) | |
3 | g.53801199C>G | CA353250413 | CACNA1D | c.5242C>G (p.Leu1748Val) n.2194-13C>G n.617C>G c.5182C>G (p.Leu1728Val) c.5137C>G (p.Leu1713Val) c.1316-13C>G n.538C>G n.609C>G c.5209C>G (p.Leu1737Val) c.4261C>G (p.Leu1421Val) c.5437C>G (p.Leu1813Val) c.5326C>G (p.Leu1776Val) c.5248C>G (p.Leu1750Val) c.4900C>G (p.Leu1634Val) c.4525C>G (p.Leu1509Val) c.5332C>G (p.Leu1778Val) c.5434C>G (p.Leu1812Val) c.5377C>G (p.Leu1793Val) c.5353C>G (p.Leu1785Val) c.5308C>G (p.Leu1770Val) | |
3 | g.53801199C>T | CA433896017 | CACNA1D | c.5242C>T (p.Leu1748=) n.2194-13C>T n.617C>T c.5182C>T (p.Leu1728=) c.5137C>T (p.Leu1713=) c.1316-13C>T n.538C>T n.609C>T c.5209C>T (p.Leu1737=) c.4261C>T (p.Leu1421=) c.5437C>T (p.Leu1813=) c.5326C>T (p.Leu1776=) c.5248C>T (p.Leu1750=) c.4900C>T (p.Leu1634=) c.4525C>T (p.Leu1509=) c.5332C>T (p.Leu1778=) c.5434C>T (p.Leu1812=) c.5377C>T (p.Leu1793=) c.5353C>T (p.Leu1785=) c.5308C>T (p.Leu1770=) | |
3 | g.53801200T>A | CA353250418 | CACNA1D | c.5243T>A (p.Leu1748Gln) n.2194-12T>A n.618T>A c.5183T>A (p.Leu1728Gln) c.5138T>A (p.Leu1713Gln) c.1316-12T>A n.539T>A n.610T>A c.5210T>A (p.Leu1737Gln) c.4262T>A (p.Leu1421Gln) c.5438T>A (p.Leu1813Gln) c.5327T>A (p.Leu1776Gln) c.5249T>A (p.Leu1750Gln) c.4901T>A (p.Leu1634Gln) c.4526T>A (p.Leu1509Gln) c.5333T>A (p.Leu1778Gln) c.5435T>A (p.Leu1812Gln) c.5378T>A (p.Leu1793Gln) c.5354T>A (p.Leu1785Gln) c.5309T>A (p.Leu1770Gln) | |
3 | g.53801200T>C | CA353250421 | CACNA1D | c.5243T>C (p.Leu1748Pro) n.2194-12T>C n.618T>C c.5183T>C (p.Leu1728Pro) c.5138T>C (p.Leu1713Pro) c.1316-12T>C n.539T>C n.610T>C c.5210T>C (p.Leu1737Pro) c.4262T>C (p.Leu1421Pro) c.5438T>C (p.Leu1813Pro) c.5327T>C (p.Leu1776Pro) c.5249T>C (p.Leu1750Pro) c.4901T>C (p.Leu1634Pro) c.4526T>C (p.Leu1509Pro) c.5333T>C (p.Leu1778Pro) c.5435T>C (p.Leu1812Pro) c.5378T>C (p.Leu1793Pro) c.5354T>C (p.Leu1785Pro) c.5309T>C (p.Leu1770Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.53801200T>G | CA353250422 | CACNA1D | c.5243T>G (p.Leu1748Arg) n.2194-12T>G n.618T>G c.5183T>G (p.Leu1728Arg) c.5138T>G (p.Leu1713Arg) c.1316-12T>G n.539T>G n.610T>G c.5210T>G (p.Leu1737Arg) c.4262T>G (p.Leu1421Arg) c.5438T>G (p.Leu1813Arg) c.5327T>G (p.Leu1776Arg) c.5249T>G (p.Leu1750Arg) c.4901T>G (p.Leu1634Arg) c.4526T>G (p.Leu1509Arg) c.5333T>G (p.Leu1778Arg) c.5435T>G (p.Leu1812Arg) c.5378T>G (p.Leu1793Arg) c.5354T>G (p.Leu1785Arg) c.5309T>G (p.Leu1770Arg) | |
3 | g.53801200T= | CA1365484164 | CACNA1D | c.5243T= (p.Leu1748=) n.2194-12T= n.618T= c.5183T= (p.Leu1728=) c.5138T= (p.Leu1713=) c.1316-12T= n.539T= n.610T= c.5210T= (p.Leu1737=) c.4262T= (p.Leu1421=) c.5438T= (p.Leu1813=) c.5327T= (p.Leu1776=) c.5249T= (p.Leu1750=) c.4901T= (p.Leu1634=) c.4526T= (p.Leu1509=) c.5333T= (p.Leu1778=) c.5435T= (p.Leu1812=) c.5378T= (p.Leu1793=) c.5354T= (p.Leu1785=) c.5309T= (p.Leu1770=) | |
3 | g.53801201G>A | CA433896018 | CACNA1D | c.5244G>A (p.Leu1748=) n.2194-11G>A n.619G>A c.5184G>A (p.Leu1728=) c.5139G>A (p.Leu1713=) c.1316-11G>A n.540G>A n.611G>A c.5211G>A (p.Leu1737=) c.4263G>A (p.Leu1421=) c.5439G>A (p.Leu1813=) c.5328G>A (p.Leu1776=) c.5250G>A (p.Leu1750=) c.4902G>A (p.Leu1634=) c.4527G>A (p.Leu1509=) c.5334G>A (p.Leu1778=) c.5436G>A (p.Leu1812=) c.5379G>A (p.Leu1793=) c.5355G>A (p.Leu1785=) c.5310G>A (p.Leu1770=) | gnomAD v4 |
3 | g.53801201G>C | CA433896020 | CACNA1D | c.5244G>C (p.Leu1748=) n.2194-11G>C n.619G>C c.5184G>C (p.Leu1728=) c.5139G>C (p.Leu1713=) c.1316-11G>C n.540G>C n.611G>C c.5211G>C (p.Leu1737=) c.4263G>C (p.Leu1421=) c.5439G>C (p.Leu1813=) c.5328G>C (p.Leu1776=) c.5250G>C (p.Leu1750=) c.4902G>C (p.Leu1634=) c.4527G>C (p.Leu1509=) c.5334G>C (p.Leu1778=) c.5436G>C (p.Leu1812=) c.5379G>C (p.Leu1793=) c.5355G>C (p.Leu1785=) c.5310G>C (p.Leu1770=) | |
3 | g.53801201G>T | CA433896023 | CACNA1D | c.5244G>T (p.Leu1748=) n.2194-11G>T n.619G>T c.5184G>T (p.Leu1728=) c.5139G>T (p.Leu1713=) c.1316-11G>T n.540G>T n.611G>T c.5211G>T (p.Leu1737=) c.4263G>T (p.Leu1421=) c.5439G>T (p.Leu1813=) c.5328G>T (p.Leu1776=) c.5250G>T (p.Leu1750=) c.4902G>T (p.Leu1634=) c.4527G>T (p.Leu1509=) c.5334G>T (p.Leu1778=) c.5436G>T (p.Leu1812=) c.5379G>T (p.Leu1793=) c.5355G>T (p.Leu1785=) c.5310G>T (p.Leu1770=) | |
3 | g.53801202T>A | CA353250426 | CACNA1D | c.5245T>A (p.Phe1749Ile) n.2194-10T>A n.620T>A c.5185T>A (p.Phe1729Ile) c.5140T>A (p.Phe1714Ile) c.1316-10T>A n.541T>A n.612T>A c.5212T>A (p.Phe1738Ile) c.4264T>A (p.Phe1422Ile) c.5440T>A (p.Phe1814Ile) c.5329T>A (p.Phe1777Ile) c.5251T>A (p.Phe1751Ile) c.4903T>A (p.Phe1635Ile) c.4528T>A (p.Phe1510Ile) c.5335T>A (p.Phe1779Ile) c.5437T>A (p.Phe1813Ile) c.5380T>A (p.Phe1794Ile) c.5356T>A (p.Phe1786Ile) c.5311T>A (p.Phe1771Ile) | |
3 | g.53801202T>C | CA353250428 | CACNA1D | c.5245T>C (p.Phe1749Leu) n.2194-10T>C n.620T>C c.5185T>C (p.Phe1729Leu) c.5140T>C (p.Phe1714Leu) c.1316-10T>C n.541T>C n.612T>C c.5212T>C (p.Phe1738Leu) c.4264T>C (p.Phe1422Leu) c.5440T>C (p.Phe1814Leu) c.5329T>C (p.Phe1777Leu) c.5251T>C (p.Phe1751Leu) c.4903T>C (p.Phe1635Leu) c.4528T>C (p.Phe1510Leu) c.5335T>C (p.Phe1779Leu) c.5437T>C (p.Phe1813Leu) c.5380T>C (p.Phe1794Leu) c.5356T>C (p.Phe1786Leu) c.5311T>C (p.Phe1771Leu) | |
3 | g.53801202T>G | CA353250432 | CACNA1D | c.5245T>G (p.Phe1749Val) n.2194-10T>G n.620T>G c.5185T>G (p.Phe1729Val) c.5140T>G (p.Phe1714Val) c.1316-10T>G n.541T>G n.612T>G c.5212T>G (p.Phe1738Val) c.4264T>G (p.Phe1422Val) c.5440T>G (p.Phe1814Val) c.5329T>G (p.Phe1777Val) c.5251T>G (p.Phe1751Val) c.4903T>G (p.Phe1635Val) c.4528T>G (p.Phe1510Val) c.5335T>G (p.Phe1779Val) c.5437T>G (p.Phe1813Val) c.5380T>G (p.Phe1794Val) c.5356T>G (p.Phe1786Val) c.5311T>G (p.Phe1771Val) | |
3 | g.53801203T>A | CA353250437 | CACNA1D | c.5246T>A (p.Phe1749Tyr) n.2194-9T>A n.621T>A c.5186T>A (p.Phe1729Tyr) c.5141T>A (p.Phe1714Tyr) c.1316-9T>A n.542T>A n.613T>A c.5213T>A (p.Phe1738Tyr) c.4265T>A (p.Phe1422Tyr) c.5441T>A (p.Phe1814Tyr) c.5330T>A (p.Phe1777Tyr) c.5252T>A (p.Phe1751Tyr) c.4904T>A (p.Phe1635Tyr) c.4529T>A (p.Phe1510Tyr) c.5336T>A (p.Phe1779Tyr) c.5438T>A (p.Phe1813Tyr) c.5381T>A (p.Phe1794Tyr) c.5357T>A (p.Phe1786Tyr) c.5312T>A (p.Phe1771Tyr) | |
3 | g.53801203T>C | CA353250438 | CACNA1D | c.5246T>C (p.Phe1749Ser) n.2194-9T>C n.621T>C c.5186T>C (p.Phe1729Ser) c.5141T>C (p.Phe1714Ser) c.1316-9T>C n.542T>C n.613T>C c.5213T>C (p.Phe1738Ser) c.4265T>C (p.Phe1422Ser) c.5441T>C (p.Phe1814Ser) c.5330T>C (p.Phe1777Ser) c.5252T>C (p.Phe1751Ser) c.4904T>C (p.Phe1635Ser) c.4529T>C (p.Phe1510Ser) c.5336T>C (p.Phe1779Ser) c.5438T>C (p.Phe1813Ser) c.5381T>C (p.Phe1794Ser) c.5357T>C (p.Phe1786Ser) c.5312T>C (p.Phe1771Ser) | |
3 | g.53801203T>G | CA353250441 | CACNA1D | c.5246T>G (p.Phe1749Cys) n.2194-9T>G n.621T>G c.5186T>G (p.Phe1729Cys) c.5141T>G (p.Phe1714Cys) c.1316-9T>G n.542T>G n.613T>G c.5213T>G (p.Phe1738Cys) c.4265T>G (p.Phe1422Cys) c.5441T>G (p.Phe1814Cys) c.5330T>G (p.Phe1777Cys) c.5252T>G (p.Phe1751Cys) c.4904T>G (p.Phe1635Cys) c.4529T>G (p.Phe1510Cys) c.5336T>G (p.Phe1779Cys) c.5438T>G (p.Phe1813Cys) c.5381T>G (p.Phe1794Cys) c.5357T>G (p.Phe1786Cys) c.5312T>G (p.Phe1771Cys) | |
3 | g.53801204T>A | CA353250443 | CACNA1D | c.5247T>A (p.Phe1749Leu) n.2194-8T>A n.622T>A c.5187T>A (p.Phe1729Leu) c.5142T>A (p.Phe1714Leu) c.1316-8T>A n.543T>A n.614T>A c.5214T>A (p.Phe1738Leu) c.4266T>A (p.Phe1422Leu) c.5442T>A (p.Phe1814Leu) c.5331T>A (p.Phe1777Leu) c.5253T>A (p.Phe1751Leu) c.4905T>A (p.Phe1635Leu) c.4530T>A (p.Phe1510Leu) c.5337T>A (p.Phe1779Leu) c.5439T>A (p.Phe1813Leu) c.5382T>A (p.Phe1794Leu) c.5358T>A (p.Phe1786Leu) c.5313T>A (p.Phe1771Leu) | |
3 | g.53801204T>C | CA433896028 | CACNA1D | c.5247T>C (p.Phe1749=) n.2194-8T>C n.622T>C c.5187T>C (p.Phe1729=) c.5142T>C (p.Phe1714=) c.1316-8T>C n.543T>C n.614T>C c.5214T>C (p.Phe1738=) c.4266T>C (p.Phe1422=) c.5442T>C (p.Phe1814=) c.5331T>C (p.Phe1777=) c.5253T>C (p.Phe1751=) c.4905T>C (p.Phe1635=) c.4530T>C (p.Phe1510=) c.5337T>C (p.Phe1779=) c.5439T>C (p.Phe1813=) c.5382T>C (p.Phe1794=) c.5358T>C (p.Phe1786=) c.5313T>C (p.Phe1771=) | COSMIC COSMIC |
3 | g.53801204T>G | CA353250447 | CACNA1D | c.5247T>G (p.Phe1749Leu) n.2194-8T>G n.622T>G c.5187T>G (p.Phe1729Leu) c.5142T>G (p.Phe1714Leu) c.1316-8T>G n.543T>G n.614T>G c.5214T>G (p.Phe1738Leu) c.4266T>G (p.Phe1422Leu) c.5442T>G (p.Phe1814Leu) c.5331T>G (p.Phe1777Leu) c.5253T>G (p.Phe1751Leu) c.4905T>G (p.Phe1635Leu) c.4530T>G (p.Phe1510Leu) c.5337T>G (p.Phe1779Leu) c.5439T>G (p.Phe1813Leu) c.5382T>G (p.Phe1794Leu) c.5358T>G (p.Phe1786Leu) c.5313T>G (p.Phe1771Leu) | |
3 | g.53801205C>A | CA353250451 | CACNA1D | c.5248C>A (p.Pro1750Thr) n.2194-7C>A n.623C>A c.5188C>A (p.Pro1730Thr) c.5143C>A (p.Pro1715Thr) c.1316-7C>A n.544C>A n.615C>A c.5215C>A (p.Pro1739Thr) c.4267C>A (p.Pro1423Thr) c.5443C>A (p.Pro1815Thr) c.5332C>A (p.Pro1778Thr) c.5254C>A (p.Pro1752Thr) c.4906C>A (p.Pro1636Thr) c.4531C>A (p.Pro1511Thr) c.5338C>A (p.Pro1780Thr) c.5440C>A (p.Pro1814Thr) c.5383C>A (p.Pro1795Thr) c.5359C>A (p.Pro1787Thr) c.5314C>A (p.Pro1772Thr) | |
3 | g.53801205C= | CA1365484165 | CACNA1D | c.5248C= (p.Pro1750=) n.2194-7C= n.623C= c.5188C= (p.Pro1730=) c.5143C= (p.Pro1715=) c.1316-7C= n.544C= n.615C= c.5215C= (p.Pro1739=) c.4267C= (p.Pro1423=) c.5443C= (p.Pro1815=) c.5332C= (p.Pro1778=) c.5254C= (p.Pro1752=) c.4906C= (p.Pro1636=) c.4531C= (p.Pro1511=) c.5338C= (p.Pro1780=) c.5440C= (p.Pro1814=) c.5383C= (p.Pro1795=) c.5359C= (p.Pro1787=) c.5314C= (p.Pro1772=) | |
3 | g.53801205C>G | CA353250452 | CACNA1D | c.5248C>G (p.Pro1750Ala) n.2194-7C>G n.623C>G c.5188C>G (p.Pro1730Ala) c.5143C>G (p.Pro1715Ala) c.1316-7C>G n.544C>G n.615C>G c.5215C>G (p.Pro1739Ala) c.4267C>G (p.Pro1423Ala) c.5443C>G (p.Pro1815Ala) c.5332C>G (p.Pro1778Ala) c.5254C>G (p.Pro1752Ala) c.4906C>G (p.Pro1636Ala) c.4531C>G (p.Pro1511Ala) c.5338C>G (p.Pro1780Ala) c.5440C>G (p.Pro1814Ala) c.5383C>G (p.Pro1795Ala) c.5359C>G (p.Pro1787Ala) c.5314C>G (p.Pro1772Ala) | |
3 | g.53801205C>T | CA353250456 | CACNA1D | c.5248C>T (p.Pro1750Ser) n.2194-7C>T n.623C>T c.5188C>T (p.Pro1730Ser) c.5143C>T (p.Pro1715Ser) c.1316-7C>T n.544C>T n.615C>T c.5215C>T (p.Pro1739Ser) c.4267C>T (p.Pro1423Ser) c.5443C>T (p.Pro1815Ser) c.5332C>T (p.Pro1778Ser) c.5254C>T (p.Pro1752Ser) c.4906C>T (p.Pro1636Ser) c.4531C>T (p.Pro1511Ser) c.5338C>T (p.Pro1780Ser) c.5440C>T (p.Pro1814Ser) c.5383C>T (p.Pro1795Ser) c.5359C>T (p.Pro1787Ser) c.5314C>T (p.Pro1772Ser) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.53801206C>A | CA353250459 | CACNA1D | c.5249C>A (p.Pro1750His) n.2194-6C>A n.624C>A c.5189C>A (p.Pro1730His) c.5144C>A (p.Pro1715His) c.1316-6C>A n.545C>A n.616C>A c.5216C>A (p.Pro1739His) c.4268C>A (p.Pro1423His) c.5444C>A (p.Pro1815His) c.5333C>A (p.Pro1778His) c.5255C>A (p.Pro1752His) c.4907C>A (p.Pro1636His) c.4532C>A (p.Pro1511His) c.5339C>A (p.Pro1780His) c.5441C>A (p.Pro1814His) c.5384C>A (p.Pro1795His) c.5360C>A (p.Pro1787His) c.5315C>A (p.Pro1772His) | COSMIC COSMIC |
3 | g.53801206C>G | CA353250462 | CACNA1D | c.5249C>G (p.Pro1750Arg) n.2194-6C>G n.624C>G c.5189C>G (p.Pro1730Arg) c.5144C>G (p.Pro1715Arg) c.1316-6C>G n.545C>G n.616C>G c.5216C>G (p.Pro1739Arg) c.4268C>G (p.Pro1423Arg) c.5444C>G (p.Pro1815Arg) c.5333C>G (p.Pro1778Arg) c.5255C>G (p.Pro1752Arg) c.4907C>G (p.Pro1636Arg) c.4532C>G (p.Pro1511Arg) c.5339C>G (p.Pro1780Arg) c.5441C>G (p.Pro1814Arg) c.5384C>G (p.Pro1795Arg) c.5360C>G (p.Pro1787Arg) c.5315C>G (p.Pro1772Arg) | |
3 | g.53801206C>T | CA353250464 | CACNA1D | c.5249C>T (p.Pro1750Leu) n.2194-6C>T n.624C>T c.5189C>T (p.Pro1730Leu) c.5144C>T (p.Pro1715Leu) c.1316-6C>T n.545C>T n.616C>T c.5216C>T (p.Pro1739Leu) c.4268C>T (p.Pro1423Leu) c.5444C>T (p.Pro1815Leu) c.5333C>T (p.Pro1778Leu) c.5255C>T (p.Pro1752Leu) c.4907C>T (p.Pro1636Leu) c.4532C>T (p.Pro1511Leu) c.5339C>T (p.Pro1780Leu) c.5441C>T (p.Pro1814Leu) c.5384C>T (p.Pro1795Leu) c.5360C>T (p.Pro1787Leu) c.5315C>T (p.Pro1772Leu) | |
3 | g.53801207T>A | CA433896032 | CACNA1D | c.5250T>A (p.Pro1750=) n.2194-5T>A n.625T>A c.5190T>A (p.Pro1730=) c.5145T>A (p.Pro1715=) c.1316-5T>A n.546T>A n.617T>A c.5217T>A (p.Pro1739=) c.4269T>A (p.Pro1423=) c.5445T>A (p.Pro1815=) c.5334T>A (p.Pro1778=) c.5256T>A (p.Pro1752=) c.4908T>A (p.Pro1636=) c.4533T>A (p.Pro1511=) c.5340T>A (p.Pro1780=) c.5442T>A (p.Pro1814=) c.5385T>A (p.Pro1795=) c.5361T>A (p.Pro1787=) c.5316T>A (p.Pro1772=) | |
3 | g.53801207T>C | CA433896033 | CACNA1D | c.5250T>C (p.Pro1750=) n.2194-5T>C n.625T>C c.5190T>C (p.Pro1730=) c.5145T>C (p.Pro1715=) c.1316-5T>C n.546T>C n.617T>C c.5217T>C (p.Pro1739=) c.4269T>C (p.Pro1423=) c.5445T>C (p.Pro1815=) c.5334T>C (p.Pro1778=) c.5256T>C (p.Pro1752=) c.4908T>C (p.Pro1636=) c.4533T>C (p.Pro1511=) c.5340T>C (p.Pro1780=) c.5442T>C (p.Pro1814=) c.5385T>C (p.Pro1795=) c.5361T>C (p.Pro1787=) c.5316T>C (p.Pro1772=) | |
3 | g.53801207T>G | CA433896035 | CACNA1D | c.5250T>G (p.Pro1750=) n.2194-5T>G n.625T>G c.5190T>G (p.Pro1730=) c.5145T>G (p.Pro1715=) c.1316-5T>G n.546T>G n.617T>G c.5217T>G (p.Pro1739=) c.4269T>G (p.Pro1423=) c.5445T>G (p.Pro1815=) c.5334T>G (p.Pro1778=) c.5256T>G (p.Pro1752=) c.4908T>G (p.Pro1636=) c.4533T>G (p.Pro1511=) c.5340T>G (p.Pro1780=) c.5442T>G (p.Pro1814=) c.5385T>G (p.Pro1795=) c.5361T>G (p.Pro1787=) c.5316T>G (p.Pro1772=) | |
3 | g.53801208C>A | CA353250468 | CACNA1D | c.5251C>A (p.Pro1751Thr) n.2194-4C>A n.626C>A c.5191C>A (p.Pro1731Thr) c.5146C>A (p.Pro1716Thr) c.1316-4C>A n.547C>A n.618C>A c.5218C>A (p.Pro1740Thr) c.4270C>A (p.Pro1424Thr) c.5446C>A (p.Pro1816Thr) c.5335C>A (p.Pro1779Thr) c.5257C>A (p.Pro1753Thr) c.4909C>A (p.Pro1637Thr) c.4534C>A (p.Pro1512Thr) c.5341C>A (p.Pro1781Thr) c.5443C>A (p.Pro1815Thr) c.5386C>A (p.Pro1796Thr) c.5362C>A (p.Pro1788Thr) c.5317C>A (p.Pro1773Thr) | |
3 | g.53801208C>G | CA353250470 | CACNA1D | c.5251C>G (p.Pro1751Ala) n.2194-4C>G n.626C>G c.5191C>G (p.Pro1731Ala) c.5146C>G (p.Pro1716Ala) c.1316-4C>G n.547C>G n.618C>G c.5218C>G (p.Pro1740Ala) c.4270C>G (p.Pro1424Ala) c.5446C>G (p.Pro1816Ala) c.5335C>G (p.Pro1779Ala) c.5257C>G (p.Pro1753Ala) c.4909C>G (p.Pro1637Ala) c.4534C>G (p.Pro1512Ala) c.5341C>G (p.Pro1781Ala) c.5443C>G (p.Pro1815Ala) c.5386C>G (p.Pro1796Ala) c.5362C>G (p.Pro1788Ala) c.5317C>G (p.Pro1773Ala) | |
3 | g.53801208C>T | CA353250475 | CACNA1D | c.5251C>T (p.Pro1751Ser) n.2194-4C>T n.626C>T c.5191C>T (p.Pro1731Ser) c.5146C>T (p.Pro1716Ser) c.1316-4C>T n.547C>T n.618C>T c.5218C>T (p.Pro1740Ser) c.4270C>T (p.Pro1424Ser) c.5446C>T (p.Pro1816Ser) c.5335C>T (p.Pro1779Ser) c.5257C>T (p.Pro1753Ser) c.4909C>T (p.Pro1637Ser) c.4534C>T (p.Pro1512Ser) c.5341C>T (p.Pro1781Ser) c.5443C>T (p.Pro1815Ser) c.5386C>T (p.Pro1796Ser) c.5362C>T (p.Pro1788Ser) c.5317C>T (p.Pro1773Ser) | COSMIC COSMIC |
3 | g.53801209C>A | CA353250479 | CACNA1D | c.5252C>A (p.Pro1751Gln) n.2194-3C>A n.627C>A c.5192C>A (p.Pro1731Gln) c.5147C>A (p.Pro1716Gln) c.1316-3C>A n.548C>A n.619C>A c.5219C>A (p.Pro1740Gln) c.4271C>A (p.Pro1424Gln) c.5447C>A (p.Pro1816Gln) c.5336C>A (p.Pro1779Gln) c.5258C>A (p.Pro1753Gln) c.4910C>A (p.Pro1637Gln) c.4535C>A (p.Pro1512Gln) c.5342C>A (p.Pro1781Gln) c.5444C>A (p.Pro1815Gln) c.5387C>A (p.Pro1796Gln) c.5363C>A (p.Pro1788Gln) c.5318C>A (p.Pro1773Gln) | |
3 | g.53801209C>G | CA353250484 | CACNA1D | c.5252C>G (p.Pro1751Arg) n.2194-3C>G n.627C>G c.5192C>G (p.Pro1731Arg) c.5147C>G (p.Pro1716Arg) c.1316-3C>G n.548C>G n.619C>G c.5219C>G (p.Pro1740Arg) c.4271C>G (p.Pro1424Arg) c.5447C>G (p.Pro1816Arg) c.5336C>G (p.Pro1779Arg) c.5258C>G (p.Pro1753Arg) c.4910C>G (p.Pro1637Arg) c.4535C>G (p.Pro1512Arg) c.5342C>G (p.Pro1781Arg) c.5444C>G (p.Pro1815Arg) c.5387C>G (p.Pro1796Arg) c.5363C>G (p.Pro1788Arg) c.5318C>G (p.Pro1773Arg) | |
3 | g.53801209C>T | CA353250485 | CACNA1D | c.5252C>T (p.Pro1751Leu) n.2194-3C>T n.627C>T c.5192C>T (p.Pro1731Leu) c.5147C>T (p.Pro1716Leu) c.1316-3C>T n.548C>T n.619C>T c.5219C>T (p.Pro1740Leu) c.4271C>T (p.Pro1424Leu) c.5447C>T (p.Pro1816Leu) c.5336C>T (p.Pro1779Leu) c.5258C>T (p.Pro1753Leu) c.4910C>T (p.Pro1637Leu) c.4535C>T (p.Pro1512Leu) c.5342C>T (p.Pro1781Leu) c.5444C>T (p.Pro1815Leu) c.5387C>T (p.Pro1796Leu) c.5363C>T (p.Pro1788Leu) c.5318C>T (p.Pro1773Leu) | gnomAD v4 COSMIC COSMIC |
3 | g.53801210A>C | CA433896040 | CACNA1D | c.5253A>C (p.Pro1751=) n.2194-2A>C n.628A>C c.5193A>C (p.Pro1731=) c.5148A>C (p.Pro1716=) c.1316-2A>C n.549A>C n.620A>C c.5220A>C (p.Pro1740=) c.4272A>C (p.Pro1424=) c.5448A>C (p.Pro1816=) c.5337A>C (p.Pro1779=) c.5259A>C (p.Pro1753=) c.4911A>C (p.Pro1637=) c.4536A>C (p.Pro1512=) c.5343A>C (p.Pro1781=) c.5445A>C (p.Pro1815=) c.5388A>C (p.Pro1796=) c.5364A>C (p.Pro1788=) c.5319A>C (p.Pro1773=) | |
3 | g.53801210A>G | CA433896041 | CACNA1D | c.5253A>G (p.Pro1751=) n.2194-2A>G n.628A>G c.5193A>G (p.Pro1731=) c.5148A>G (p.Pro1716=) c.1316-2A>G n.549A>G n.620A>G c.5220A>G (p.Pro1740=) c.4272A>G (p.Pro1424=) c.5448A>G (p.Pro1816=) c.5337A>G (p.Pro1779=) c.5259A>G (p.Pro1753=) c.4911A>G (p.Pro1637=) c.4536A>G (p.Pro1512=) c.5343A>G (p.Pro1781=) c.5445A>G (p.Pro1815=) c.5388A>G (p.Pro1796=) c.5364A>G (p.Pro1788=) c.5319A>G (p.Pro1773=) | |
3 | g.53801210A>T | CA433896042 | CACNA1D | c.5253A>T (p.Pro1751=) n.2194-2A>T n.628A>T c.5193A>T (p.Pro1731=) c.5148A>T (p.Pro1716=) c.1316-2A>T n.549A>T n.620A>T c.5220A>T (p.Pro1740=) c.4272A>T (p.Pro1424=) c.5448A>T (p.Pro1816=) c.5337A>T (p.Pro1779=) c.5259A>T (p.Pro1753=) c.4911A>T (p.Pro1637=) c.4536A>T (p.Pro1512=) c.5343A>T (p.Pro1781=) c.5445A>T (p.Pro1815=) c.5388A>T (p.Pro1796=) c.5364A>T (p.Pro1788=) c.5319A>T (p.Pro1773=) | |
3 | g.53801211G>A | CA353250487 | CACNA1D | c.5254G>A (p.Ala1752Thr) n.2194-1G>A n.629G>A c.5194G>A (p.Ala1732Thr) c.5149G>A (p.Ala1717Thr) c.1316-1G>A n.550G>A n.621G>A c.5221G>A (p.Ala1741Thr) c.4273G>A (p.Ala1425Thr) c.5449G>A (p.Ala1817Thr) c.5338G>A (p.Ala1780Thr) c.5260G>A (p.Ala1754Thr) c.4912G>A (p.Ala1638Thr) c.4537G>A (p.Ala1513Thr) c.5344G>A (p.Ala1782Thr) c.5446G>A (p.Ala1816Thr) c.5389G>A (p.Ala1797Thr) c.5365G>A (p.Ala1789Thr) c.5320G>A (p.Ala1774Thr) | COSMIC COSMIC |
3 | g.53801211G>C | CA353250489 | CACNA1D | c.5254G>C (p.Ala1752Pro) n.2194-1G>C n.629G>C c.5194G>C (p.Ala1732Pro) c.5149G>C (p.Ala1717Pro) c.1316-1G>C n.550G>C n.621G>C c.5221G>C (p.Ala1741Pro) c.4273G>C (p.Ala1425Pro) c.5449G>C (p.Ala1817Pro) c.5338G>C (p.Ala1780Pro) c.5260G>C (p.Ala1754Pro) c.4912G>C (p.Ala1638Pro) c.4537G>C (p.Ala1513Pro) c.5344G>C (p.Ala1782Pro) c.5446G>C (p.Ala1816Pro) c.5389G>C (p.Ala1797Pro) c.5365G>C (p.Ala1789Pro) c.5320G>C (p.Ala1774Pro) | |
3 | g.53801211G>T | CA353250488 | CACNA1D | c.5254G>T (p.Ala1752Ser) n.2194-1G>T n.629G>T c.5194G>T (p.Ala1732Ser) c.5149G>T (p.Ala1717Ser) c.1316-1G>T n.550G>T n.621G>T c.5221G>T (p.Ala1741Ser) c.4273G>T (p.Ala1425Ser) c.5449G>T (p.Ala1817Ser) c.5338G>T (p.Ala1780Ser) c.5260G>T (p.Ala1754Ser) c.4912G>T (p.Ala1638Ser) c.4537G>T (p.Ala1513Ser) c.5344G>T (p.Ala1782Ser) c.5446G>T (p.Ala1816Ser) c.5389G>T (p.Ala1797Ser) c.5365G>T (p.Ala1789Ser) c.5320G>T (p.Ala1774Ser) | ClinVar dbSNP |
3 | g.53801212C>A | CA353250490 | CACNA1D | c.5255C>A (p.Ala1752Glu) n.2194C>A n.630C>A c.5195C>A (p.Ala1732Glu) c.5150C>A (p.Ala1717Glu) c.1316C>A n.551C>A n.622C>A c.5222C>A (p.Ala1741Glu) c.4274C>A (p.Ala1425Glu) c.5450C>A (p.Ala1817Glu) c.5339C>A (p.Ala1780Glu) c.5261C>A (p.Ala1754Glu) c.4913C>A (p.Ala1638Glu) c.4538C>A (p.Ala1513Glu) c.5345C>A (p.Ala1782Glu) c.5447C>A (p.Ala1816Glu) c.5390C>A (p.Ala1797Glu) c.5366C>A (p.Ala1789Glu) c.5321C>A (p.Ala1774Glu) | |
3 | g.53801212C>G | CA353250491 | CACNA1D | c.5255C>G (p.Ala1752Gly) n.2194C>G n.630C>G c.5195C>G (p.Ala1732Gly) c.5150C>G (p.Ala1717Gly) c.1316C>G n.551C>G n.622C>G c.5222C>G (p.Ala1741Gly) c.4274C>G (p.Ala1425Gly) c.5450C>G (p.Ala1817Gly) c.5339C>G (p.Ala1780Gly) c.5261C>G (p.Ala1754Gly) c.4913C>G (p.Ala1638Gly) c.4538C>G (p.Ala1513Gly) c.5345C>G (p.Ala1782Gly) c.5447C>G (p.Ala1816Gly) c.5390C>G (p.Ala1797Gly) c.5366C>G (p.Ala1789Gly) c.5321C>G (p.Ala1774Gly) | |
3 | g.53801212C>T | CA353250493 | CACNA1D | c.5255C>T (p.Ala1752Val) n.2194C>T n.630C>T c.5195C>T (p.Ala1732Val) c.5150C>T (p.Ala1717Val) c.1316C>T n.551C>T n.622C>T c.5222C>T (p.Ala1741Val) c.4274C>T (p.Ala1425Val) c.5450C>T (p.Ala1817Val) c.5339C>T (p.Ala1780Val) c.5261C>T (p.Ala1754Val) c.4913C>T (p.Ala1638Val) c.4538C>T (p.Ala1513Val) c.5345C>T (p.Ala1782Val) c.5447C>T (p.Ala1816Val) c.5390C>T (p.Ala1797Val) c.5366C>T (p.Ala1789Val) c.5321C>T (p.Ala1774Val) | COSMIC COSMIC |
3 | g.53801213A>C | CA433896049 | CACNA1D | c.5256A>C (p.Ala1752=) n.2195A>C n.631A>C c.5196A>C (p.Ala1732=) c.5151A>C (p.Ala1717=) c.1317A>C n.552A>C n.623A>C c.5223A>C (p.Ala1741=) c.4275A>C (p.Ala1425=) c.5451A>C (p.Ala1817=) c.5340A>C (p.Ala1780=) c.5262A>C (p.Ala1754=) c.4914A>C (p.Ala1638=) c.4539A>C (p.Ala1513=) c.5346A>C (p.Ala1782=) c.5448A>C (p.Ala1816=) c.5391A>C (p.Ala1797=) c.5367A>C (p.Ala1789=) c.5322A>C (p.Ala1774=) | |
3 | g.53801213A>G | CA433896051 | CACNA1D | c.5256A>G (p.Ala1752=) n.2195A>G n.631A>G c.5196A>G (p.Ala1732=) c.5151A>G (p.Ala1717=) c.1317A>G n.552A>G n.623A>G c.5223A>G (p.Ala1741=) c.4275A>G (p.Ala1425=) c.5451A>G (p.Ala1817=) c.5340A>G (p.Ala1780=) c.5262A>G (p.Ala1754=) c.4914A>G (p.Ala1638=) c.4539A>G (p.Ala1513=) c.5346A>G (p.Ala1782=) c.5448A>G (p.Ala1816=) c.5391A>G (p.Ala1797=) c.5367A>G (p.Ala1789=) c.5322A>G (p.Ala1774=) | |
3 | g.53801213A>T | CA433896053 | CACNA1D | c.5256A>T (p.Ala1752=) n.2195A>T n.631A>T c.5196A>T (p.Ala1732=) c.5151A>T (p.Ala1717=) c.1317A>T n.552A>T n.623A>T c.5223A>T (p.Ala1741=) c.4275A>T (p.Ala1425=) c.5451A>T (p.Ala1817=) c.5340A>T (p.Ala1780=) c.5262A>T (p.Ala1754=) c.4914A>T (p.Ala1638=) c.4539A>T (p.Ala1513=) c.5346A>T (p.Ala1782=) c.5448A>T (p.Ala1816=) c.5391A>T (p.Ala1797=) c.5367A>T (p.Ala1789=) c.5322A>T (p.Ala1774=) | |
3 | g.53801214G>A | CA353250498 | CACNA1D | c.5257G>A (p.Gly1753Arg) n.2196G>A n.632G>A c.5197G>A (p.Gly1733Arg) c.5152G>A (p.Gly1718Arg) c.1318G>A n.553G>A n.624G>A c.5224G>A (p.Gly1742Arg) c.4276G>A (p.Gly1426Arg) c.5452G>A (p.Gly1818Arg) c.5341G>A (p.Gly1781Arg) c.5263G>A (p.Gly1755Arg) c.4915G>A (p.Gly1639Arg) c.4540G>A (p.Gly1514Arg) c.5347G>A (p.Gly1783Arg) c.5449G>A (p.Gly1817Arg) c.5392G>A (p.Gly1798Arg) c.5368G>A (p.Gly1790Arg) c.5323G>A (p.Gly1775Arg) | |
3 | g.53801214G>C | CA353250505 | CACNA1D | c.5257G>C (p.Gly1753Arg) n.2196G>C n.632G>C c.5197G>C (p.Gly1733Arg) c.5152G>C (p.Gly1718Arg) c.1318G>C n.553G>C n.624G>C c.5224G>C (p.Gly1742Arg) c.4276G>C (p.Gly1426Arg) c.5452G>C (p.Gly1818Arg) c.5341G>C (p.Gly1781Arg) c.5263G>C (p.Gly1755Arg) c.4915G>C (p.Gly1639Arg) c.4540G>C (p.Gly1514Arg) c.5347G>C (p.Gly1783Arg) c.5449G>C (p.Gly1817Arg) c.5392G>C (p.Gly1798Arg) c.5368G>C (p.Gly1790Arg) c.5323G>C (p.Gly1775Arg) | |
3 | g.53801214G>T | CA353250509 | CACNA1D | c.5257G>T (p.Gly1753Ter) n.2196G>T n.632G>T c.5197G>T (p.Gly1733Ter) c.5152G>T (p.Gly1718Ter) c.1318G>T n.553G>T n.624G>T c.5224G>T (p.Gly1742Ter) c.4276G>T (p.Gly1426Ter) c.5452G>T (p.Gly1818Ter) c.5341G>T (p.Gly1781Ter) c.5263G>T (p.Gly1755Ter) c.4915G>T (p.Gly1639Ter) c.4540G>T (p.Gly1514Ter) c.5347G>T (p.Gly1783Ter) c.5449G>T (p.Gly1817Ter) c.5392G>T (p.Gly1798Ter) c.5368G>T (p.Gly1790Ter) c.5323G>T (p.Gly1775Ter) | |
3 | g.53801215G>A | CA353250512 | CACNA1D | c.5258G>A (p.Gly1753Glu) n.2197G>A n.633G>A c.5198G>A (p.Gly1733Glu) c.5153G>A (p.Gly1718Glu) c.1319G>A n.554G>A n.625G>A c.5225G>A (p.Gly1742Glu) c.4277G>A (p.Gly1426Glu) c.5453G>A (p.Gly1818Glu) c.5342G>A (p.Gly1781Glu) c.5264G>A (p.Gly1755Glu) c.4916G>A (p.Gly1639Glu) c.4541G>A (p.Gly1514Glu) c.5348G>A (p.Gly1783Glu) c.5450G>A (p.Gly1817Glu) c.5393G>A (p.Gly1798Glu) c.5369G>A (p.Gly1790Glu) c.5324G>A (p.Gly1775Glu) | gnomAD v4 COSMIC COSMIC |
3 | g.53801215G>C | CA353250516 | CACNA1D | c.5258G>C (p.Gly1753Ala) n.2197G>C n.633G>C c.5198G>C (p.Gly1733Ala) c.5153G>C (p.Gly1718Ala) c.1319G>C n.554G>C n.625G>C c.5225G>C (p.Gly1742Ala) c.4277G>C (p.Gly1426Ala) c.5453G>C (p.Gly1818Ala) c.5342G>C (p.Gly1781Ala) c.5264G>C (p.Gly1755Ala) c.4916G>C (p.Gly1639Ala) c.4541G>C (p.Gly1514Ala) c.5348G>C (p.Gly1783Ala) c.5450G>C (p.Gly1817Ala) c.5393G>C (p.Gly1798Ala) c.5369G>C (p.Gly1790Ala) c.5324G>C (p.Gly1775Ala) | |
3 | g.53801215G>T | CA353250518 | CACNA1D | c.5258G>T (p.Gly1753Val) n.2197G>T n.633G>T c.5198G>T (p.Gly1733Val) c.5153G>T (p.Gly1718Val) c.1319G>T n.554G>T n.625G>T c.5225G>T (p.Gly1742Val) c.4277G>T (p.Gly1426Val) c.5453G>T (p.Gly1818Val) c.5342G>T (p.Gly1781Val) c.5264G>T (p.Gly1755Val) c.4916G>T (p.Gly1639Val) c.4541G>T (p.Gly1514Val) c.5348G>T (p.Gly1783Val) c.5450G>T (p.Gly1817Val) c.5393G>T (p.Gly1798Val) c.5369G>T (p.Gly1790Val) c.5324G>T (p.Gly1775Val) | |
3 | g.53801216A>C | CA433896059 | CACNA1D | c.5259A>C (p.Gly1753=) n.2198A>C n.634A>C c.5199A>C (p.Gly1733=) c.5154A>C (p.Gly1718=) c.1320A>C n.555A>C n.626A>C c.5226A>C (p.Gly1742=) c.4278A>C (p.Gly1426=) c.5454A>C (p.Gly1818=) c.5343A>C (p.Gly1781=) c.5265A>C (p.Gly1755=) c.4917A>C (p.Gly1639=) c.4542A>C (p.Gly1514=) c.5349A>C (p.Gly1783=) c.5451A>C (p.Gly1817=) c.5394A>C (p.Gly1798=) c.5370A>C (p.Gly1790=) c.5325A>C (p.Gly1775=) | |
3 | g.53801216A>G | CA433896055 | CACNA1D | c.5259A>G (p.Gly1753=) n.2198A>G n.634A>G c.5199A>G (p.Gly1733=) c.5154A>G (p.Gly1718=) c.1320A>G n.555A>G n.626A>G c.5226A>G (p.Gly1742=) c.4278A>G (p.Gly1426=) c.5454A>G (p.Gly1818=) c.5343A>G (p.Gly1781=) c.5265A>G (p.Gly1755=) c.4917A>G (p.Gly1639=) c.4542A>G (p.Gly1514=) c.5349A>G (p.Gly1783=) c.5451A>G (p.Gly1817=) c.5394A>G (p.Gly1798=) c.5370A>G (p.Gly1790=) c.5325A>G (p.Gly1775=) | |
3 | g.53801216A>T | CA433896057 | CACNA1D | c.5259A>T (p.Gly1753=) n.2198A>T n.634A>T c.5199A>T (p.Gly1733=) c.5154A>T (p.Gly1718=) c.1320A>T n.555A>T n.626A>T c.5226A>T (p.Gly1742=) c.4278A>T (p.Gly1426=) c.5454A>T (p.Gly1818=) c.5343A>T (p.Gly1781=) c.5265A>T (p.Gly1755=) c.4917A>T (p.Gly1639=) c.4542A>T (p.Gly1514=) c.5349A>T (p.Gly1783=) c.5451A>T (p.Gly1817=) c.5394A>T (p.Gly1798=) c.5370A>T (p.Gly1790=) c.5325A>T (p.Gly1775=) | |
3 | g.53801217A>C | CA353250523 | CACNA1D | c.5260A>C (p.Asn1754His) n.2199A>C n.635A>C c.5200A>C (p.Asn1734His) c.5155A>C (p.Asn1719His) c.1321A>C n.556A>C n.627A>C c.5227A>C (p.Asn1743His) c.4279A>C (p.Asn1427His) c.5455A>C (p.Asn1819His) c.5344A>C (p.Asn1782His) c.5266A>C (p.Asn1756His) c.4918A>C (p.Asn1640His) c.4543A>C (p.Asn1515His) c.5350A>C (p.Asn1784His) c.5452A>C (p.Asn1818His) c.5395A>C (p.Asn1799His) c.5371A>C (p.Asn1791His) c.5326A>C (p.Asn1776His) | |
3 | g.53801217A>G | CA353250526 | CACNA1D | c.5260A>G (p.Asn1754Asp) n.2199A>G n.635A>G c.5200A>G (p.Asn1734Asp) c.5155A>G (p.Asn1719Asp) c.1321A>G n.556A>G n.627A>G c.5227A>G (p.Asn1743Asp) c.4279A>G (p.Asn1427Asp) c.5455A>G (p.Asn1819Asp) c.5344A>G (p.Asn1782Asp) c.5266A>G (p.Asn1756Asp) c.4918A>G (p.Asn1640Asp) c.4543A>G (p.Asn1515Asp) c.5350A>G (p.Asn1784Asp) c.5452A>G (p.Asn1818Asp) c.5395A>G (p.Asn1799Asp) c.5371A>G (p.Asn1791Asp) c.5326A>G (p.Asn1776Asp) | |
3 | g.53801217A>T | CA353250529 | CACNA1D | c.5260A>T (p.Asn1754Tyr) n.2199A>T n.635A>T c.5200A>T (p.Asn1734Tyr) c.5155A>T (p.Asn1719Tyr) c.1321A>T n.556A>T n.627A>T c.5227A>T (p.Asn1743Tyr) c.4279A>T (p.Asn1427Tyr) c.5455A>T (p.Asn1819Tyr) c.5344A>T (p.Asn1782Tyr) c.5266A>T (p.Asn1756Tyr) c.4918A>T (p.Asn1640Tyr) c.4543A>T (p.Asn1515Tyr) c.5350A>T (p.Asn1784Tyr) c.5452A>T (p.Asn1818Tyr) c.5395A>T (p.Asn1799Tyr) c.5371A>T (p.Asn1791Tyr) c.5326A>T (p.Asn1776Tyr) | |
3 | g.53801218A= | CA1365484166 | CACNA1D | c.5261A= (p.Asn1754=) n.2200A= n.636A= c.5201A= (p.Asn1734=) c.5156A= (p.Asn1719=) c.1322A= n.557A= n.628A= c.5228A= (p.Asn1743=) c.4280A= (p.Asn1427=) c.5456A= (p.Asn1819=) c.5345A= (p.Asn1782=) c.5267A= (p.Asn1756=) c.4919A= (p.Asn1640=) c.4544A= (p.Asn1515=) c.5351A= (p.Asn1784=) c.5453A= (p.Asn1818=) c.5396A= (p.Asn1799=) c.5372A= (p.Asn1791=) c.5327A= (p.Asn1776=) | |
3 | g.53801218A>C | CA353250539 | CACNA1D | c.5261A>C (p.Asn1754Thr) n.2200A>C n.636A>C c.5201A>C (p.Asn1734Thr) c.5156A>C (p.Asn1719Thr) c.1322A>C n.557A>C n.628A>C c.5228A>C (p.Asn1743Thr) c.4280A>C (p.Asn1427Thr) c.5456A>C (p.Asn1819Thr) c.5345A>C (p.Asn1782Thr) c.5267A>C (p.Asn1756Thr) c.4919A>C (p.Asn1640Thr) c.4544A>C (p.Asn1515Thr) c.5351A>C (p.Asn1784Thr) c.5453A>C (p.Asn1818Thr) c.5396A>C (p.Asn1799Thr) c.5372A>C (p.Asn1791Thr) c.5327A>C (p.Asn1776Thr) | |
3 | g.53801218A>G | CA353250534 | CACNA1D | c.5261A>G (p.Asn1754Ser) n.2200A>G n.636A>G c.5201A>G (p.Asn1734Ser) c.5156A>G (p.Asn1719Ser) c.1322A>G n.557A>G n.628A>G c.5228A>G (p.Asn1743Ser) c.4280A>G (p.Asn1427Ser) c.5456A>G (p.Asn1819Ser) c.5345A>G (p.Asn1782Ser) c.5267A>G (p.Asn1756Ser) c.4919A>G (p.Asn1640Ser) c.4544A>G (p.Asn1515Ser) c.5351A>G (p.Asn1784Ser) c.5453A>G (p.Asn1818Ser) c.5396A>G (p.Asn1799Ser) c.5372A>G (p.Asn1791Ser) c.5327A>G (p.Asn1776Ser) | |
3 | g.53801218A>T | CA74859870 | CACNA1D | c.5261A>T (p.Asn1754Ile) n.2200A>T n.636A>T c.5201A>T (p.Asn1734Ile) c.5156A>T (p.Asn1719Ile) c.1322A>T n.557A>T n.628A>T c.5228A>T (p.Asn1743Ile) c.4280A>T (p.Asn1427Ile) c.5456A>T (p.Asn1819Ile) c.5345A>T (p.Asn1782Ile) c.5267A>T (p.Asn1756Ile) c.4919A>T (p.Asn1640Ile) c.4544A>T (p.Asn1515Ile) c.5351A>T (p.Asn1784Ile) c.5453A>T (p.Asn1818Ile) c.5396A>T (p.Asn1799Ile) c.5372A>T (p.Asn1791Ile) c.5327A>T (p.Asn1776Ile) | dbSNP |
3 | g.53801219T>A | CA353250543 | CACNA1D | c.5262T>A (p.Asn1754Lys) n.2201T>A n.637T>A c.5202T>A (p.Asn1734Lys) c.5157T>A (p.Asn1719Lys) c.1323T>A n.558T>A n.629T>A c.5229T>A (p.Asn1743Lys) c.4281T>A (p.Asn1427Lys) c.5457T>A (p.Asn1819Lys) c.5346T>A (p.Asn1782Lys) c.5268T>A (p.Asn1756Lys) c.4920T>A (p.Asn1640Lys) c.4545T>A (p.Asn1515Lys) c.5352T>A (p.Asn1784Lys) c.5454T>A (p.Asn1818Lys) c.5397T>A (p.Asn1799Lys) c.5373T>A (p.Asn1791Lys) c.5328T>A (p.Asn1776Lys) | |
3 | g.53801219T>C | CA433896065 | CACNA1D | c.5262T>C (p.Asn1754=) n.2201T>C n.637T>C c.5202T>C (p.Asn1734=) c.5157T>C (p.Asn1719=) c.1323T>C n.558T>C n.629T>C c.5229T>C (p.Asn1743=) c.4281T>C (p.Asn1427=) c.5457T>C (p.Asn1819=) c.5346T>C (p.Asn1782=) c.5268T>C (p.Asn1756=) c.4920T>C (p.Asn1640=) c.4545T>C (p.Asn1515=) c.5352T>C (p.Asn1784=) c.5454T>C (p.Asn1818=) c.5397T>C (p.Asn1799=) c.5373T>C (p.Asn1791=) c.5328T>C (p.Asn1776=) | |
3 | g.53801219T>G | CA353250546 | CACNA1D | c.5262T>G (p.Asn1754Lys) n.2201T>G n.637T>G c.5202T>G (p.Asn1734Lys) c.5157T>G (p.Asn1719Lys) c.1323T>G n.558T>G n.629T>G c.5229T>G (p.Asn1743Lys) c.4281T>G (p.Asn1427Lys) c.5457T>G (p.Asn1819Lys) c.5346T>G (p.Asn1782Lys) c.5268T>G (p.Asn1756Lys) c.4920T>G (p.Asn1640Lys) c.4545T>G (p.Asn1515Lys) c.5352T>G (p.Asn1784Lys) c.5454T>G (p.Asn1818Lys) c.5397T>G (p.Asn1799Lys) c.5373T>G (p.Asn1791Lys) c.5328T>G (p.Asn1776Lys) | |
3 | g.53801220T>A | CA353250550 | CACNA1D | c.5263T>A (p.Ser1755Thr) n.2202T>A n.638T>A c.5203T>A (p.Ser1735Thr) c.5158T>A (p.Ser1720Thr) c.1324T>A n.559T>A n.630T>A c.5230T>A (p.Ser1744Thr) c.4282T>A (p.Ser1428Thr) c.5458T>A (p.Ser1820Thr) c.5347T>A (p.Ser1783Thr) c.5269T>A (p.Ser1757Thr) c.4921T>A (p.Ser1641Thr) c.4546T>A (p.Ser1516Thr) c.5353T>A (p.Ser1785Thr) c.5455T>A (p.Ser1819Thr) c.5398T>A (p.Ser1800Thr) c.5374T>A (p.Ser1792Thr) c.5329T>A (p.Ser1777Thr) | |
3 | g.53801220T>C | CA353250552 | CACNA1D | c.5263T>C (p.Ser1755Pro) n.2202T>C n.638T>C c.5203T>C (p.Ser1735Pro) c.5158T>C (p.Ser1720Pro) c.1324T>C n.559T>C n.630T>C c.5230T>C (p.Ser1744Pro) c.4282T>C (p.Ser1428Pro) c.5458T>C (p.Ser1820Pro) c.5347T>C (p.Ser1783Pro) c.5269T>C (p.Ser1757Pro) c.4921T>C (p.Ser1641Pro) c.4546T>C (p.Ser1516Pro) c.5353T>C (p.Ser1785Pro) c.5455T>C (p.Ser1819Pro) c.5398T>C (p.Ser1800Pro) c.5374T>C (p.Ser1792Pro) c.5329T>C (p.Ser1777Pro) | gnomAD v4 |
3 | g.53801220T>G | CA353250554 | CACNA1D | c.5263T>G (p.Ser1755Ala) n.2202T>G n.638T>G c.5203T>G (p.Ser1735Ala) c.5158T>G (p.Ser1720Ala) c.1324T>G n.559T>G n.630T>G c.5230T>G (p.Ser1744Ala) c.4282T>G (p.Ser1428Ala) c.5458T>G (p.Ser1820Ala) c.5347T>G (p.Ser1783Ala) c.5269T>G (p.Ser1757Ala) c.4921T>G (p.Ser1641Ala) c.4546T>G (p.Ser1516Ala) c.5353T>G (p.Ser1785Ala) c.5455T>G (p.Ser1819Ala) c.5398T>G (p.Ser1800Ala) c.5374T>G (p.Ser1792Ala) c.5329T>G (p.Ser1777Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.53801220T= | CA1365484167 | CACNA1D | c.5263T= (p.Ser1755=) n.2202T= n.638T= c.5203T= (p.Ser1735=) c.5158T= (p.Ser1720=) c.1324T= n.559T= n.630T= c.5230T= (p.Ser1744=) c.4282T= (p.Ser1428=) c.5458T= (p.Ser1820=) c.5347T= (p.Ser1783=) c.5269T= (p.Ser1757=) c.4921T= (p.Ser1641=) c.4546T= (p.Ser1516=) c.5353T= (p.Ser1785=) c.5455T= (p.Ser1819=) c.5398T= (p.Ser1800=) c.5374T= (p.Ser1792=) c.5329T= (p.Ser1777=) | |
3 | g.53801221C>A | CA353250556 | CACNA1D | c.5264C>A (p.Ser1755Ter) n.2203C>A n.639C>A c.5204C>A (p.Ser1735Ter) c.5159C>A (p.Ser1720Ter) c.1325C>A n.560C>A n.631C>A c.5231C>A (p.Ser1744Ter) c.4283C>A (p.Ser1428Ter) c.5459C>A (p.Ser1820Ter) c.5348C>A (p.Ser1783Ter) c.5270C>A (p.Ser1757Ter) c.4922C>A (p.Ser1641Ter) c.4547C>A (p.Ser1516Ter) c.5354C>A (p.Ser1785Ter) c.5456C>A (p.Ser1819Ter) c.5399C>A (p.Ser1800Ter) c.5375C>A (p.Ser1792Ter) c.5330C>A (p.Ser1777Ter) | |
3 | g.53801221C= | CA1365484168 | CACNA1D | c.5264C= (p.Ser1755=) n.2203C= n.639C= c.5204C= (p.Ser1735=) c.5159C= (p.Ser1720=) c.1325C= n.560C= n.631C= c.5231C= (p.Ser1744=) c.4283C= (p.Ser1428=) c.5459C= (p.Ser1820=) c.5348C= (p.Ser1783=) c.5270C= (p.Ser1757=) c.4922C= (p.Ser1641=) c.4547C= (p.Ser1516=) c.5354C= (p.Ser1785=) c.5456C= (p.Ser1819=) c.5399C= (p.Ser1800=) c.5375C= (p.Ser1792=) c.5330C= (p.Ser1777=) | |
3 | g.53801221C>G | CA353250557 | CACNA1D | c.5264C>G (p.Ser1755Trp) n.2203C>G n.639C>G c.5204C>G (p.Ser1735Trp) c.5159C>G (p.Ser1720Trp) c.1325C>G n.560C>G n.631C>G c.5231C>G (p.Ser1744Trp) c.4283C>G (p.Ser1428Trp) c.5459C>G (p.Ser1820Trp) c.5348C>G (p.Ser1783Trp) c.5270C>G (p.Ser1757Trp) c.4922C>G (p.Ser1641Trp) c.4547C>G (p.Ser1516Trp) c.5354C>G (p.Ser1785Trp) c.5456C>G (p.Ser1819Trp) c.5399C>G (p.Ser1800Trp) c.5375C>G (p.Ser1792Trp) c.5330C>G (p.Ser1777Trp) | |
3 | g.53801221C>T | CA353250561 | CACNA1D | c.5264C>T (p.Ser1755Leu) n.2203C>T n.639C>T c.5204C>T (p.Ser1735Leu) c.5159C>T (p.Ser1720Leu) c.1325C>T n.560C>T n.631C>T c.5231C>T (p.Ser1744Leu) c.4283C>T (p.Ser1428Leu) c.5459C>T (p.Ser1820Leu) c.5348C>T (p.Ser1783Leu) c.5270C>T (p.Ser1757Leu) c.4922C>T (p.Ser1641Leu) c.4547C>T (p.Ser1516Leu) c.5354C>T (p.Ser1785Leu) c.5456C>T (p.Ser1819Leu) c.5399C>T (p.Ser1800Leu) c.5375C>T (p.Ser1792Leu) c.5330C>T (p.Ser1777Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
3 | g.53801222G>A | CA433896073 | CACNA1D | c.5265G>A (p.Ser1755=) n.2204G>A n.640G>A c.5205G>A (p.Ser1735=) c.5160G>A (p.Ser1720=) c.1326G>A n.561G>A n.632G>A c.5232G>A (p.Ser1744=) c.4284G>A (p.Ser1428=) c.5460G>A (p.Ser1820=) c.5349G>A (p.Ser1783=) c.5271G>A (p.Ser1757=) c.4923G>A (p.Ser1641=) c.4548G>A (p.Ser1516=) c.5355G>A (p.Ser1785=) c.5457G>A (p.Ser1819=) c.5400G>A (p.Ser1800=) c.5376G>A (p.Ser1792=) c.5331G>A (p.Ser1777=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.53801222G>C | CA433896071 | CACNA1D | c.5265G>C (p.Ser1755=) n.2204G>C n.640G>C c.5205G>C (p.Ser1735=) c.5160G>C (p.Ser1720=) c.1326G>C n.561G>C n.632G>C c.5232G>C (p.Ser1744=) c.4284G>C (p.Ser1428=) c.5460G>C (p.Ser1820=) c.5349G>C (p.Ser1783=) c.5271G>C (p.Ser1757=) c.4923G>C (p.Ser1641=) c.4548G>C (p.Ser1516=) c.5355G>C (p.Ser1785=) c.5457G>C (p.Ser1819=) c.5400G>C (p.Ser1800=) c.5376G>C (p.Ser1792=) c.5331G>C (p.Ser1777=) | gnomAD v4 |
3 | g.53801222G= | CA1365484169 | CACNA1D | c.5265G= (p.Ser1755=) n.2204G= n.640G= c.5205G= (p.Ser1735=) c.5160G= (p.Ser1720=) c.1326G= n.561G= n.632G= c.5232G= (p.Ser1744=) c.4284G= (p.Ser1428=) c.5460G= (p.Ser1820=) c.5349G= (p.Ser1783=) c.5271G= (p.Ser1757=) c.4923G= (p.Ser1641=) c.4548G= (p.Ser1516=) c.5355G= (p.Ser1785=) c.5457G= (p.Ser1819=) c.5400G= (p.Ser1800=) c.5376G= (p.Ser1792=) c.5331G= (p.Ser1777=) | |
3 | g.53801222G>T | CA433896075 | CACNA1D | c.5265G>T (p.Ser1755=) n.2204G>T n.640G>T c.5205G>T (p.Ser1735=) c.5160G>T (p.Ser1720=) c.1326G>T n.561G>T n.632G>T c.5232G>T (p.Ser1744=) c.4284G>T (p.Ser1428=) c.5460G>T (p.Ser1820=) c.5349G>T (p.Ser1783=) c.5271G>T (p.Ser1757=) c.4923G>T (p.Ser1641=) c.4548G>T (p.Ser1516=) c.5355G>T (p.Ser1785=) c.5457G>T (p.Ser1819=) c.5400G>T (p.Ser1800=) c.5376G>T (p.Ser1792=) c.5331G>T (p.Ser1777=) | |
3 | g.53801223G>A | CA353250564 | CACNA1D | c.5266G>A (p.Val1756Met) n.2205G>A n.641G>A c.5206G>A (p.Val1736Met) c.5161G>A (p.Val1721Met) c.1327G>A n.562G>A n.633G>A c.5233G>A (p.Val1745Met) c.4285G>A (p.Val1429Met) c.5461G>A (p.Val1821Met) c.5350G>A (p.Val1784Met) c.5272G>A (p.Val1758Met) c.4924G>A (p.Val1642Met) c.4549G>A (p.Val1517Met) c.5356G>A (p.Val1786Met) c.5458G>A (p.Val1820Met) c.5401G>A (p.Val1801Met) c.5377G>A (p.Val1793Met) c.5332G>A (p.Val1778Met) | |
3 | g.53801223G>C | CA353250568 | CACNA1D | c.5266G>C (p.Val1756Leu) n.2205G>C n.641G>C c.5206G>C (p.Val1736Leu) c.5161G>C (p.Val1721Leu) c.1327G>C n.562G>C n.633G>C c.5233G>C (p.Val1745Leu) c.4285G>C (p.Val1429Leu) c.5461G>C (p.Val1821Leu) c.5350G>C (p.Val1784Leu) c.5272G>C (p.Val1758Leu) c.4924G>C (p.Val1642Leu) c.4549G>C (p.Val1517Leu) c.5356G>C (p.Val1786Leu) c.5458G>C (p.Val1820Leu) c.5401G>C (p.Val1801Leu) c.5377G>C (p.Val1793Leu) c.5332G>C (p.Val1778Leu) | |
3 | g.53801223G>T | CA353250571 | CACNA1D | c.5266G>T (p.Val1756Leu) n.2205G>T n.641G>T c.5206G>T (p.Val1736Leu) c.5161G>T (p.Val1721Leu) c.1327G>T n.562G>T n.633G>T c.5233G>T (p.Val1745Leu) c.4285G>T (p.Val1429Leu) c.5461G>T (p.Val1821Leu) c.5350G>T (p.Val1784Leu) c.5272G>T (p.Val1758Leu) c.4924G>T (p.Val1642Leu) c.4549G>T (p.Val1517Leu) c.5356G>T (p.Val1786Leu) c.5458G>T (p.Val1820Leu) c.5401G>T (p.Val1801Leu) c.5377G>T (p.Val1793Leu) c.5332G>T (p.Val1778Leu) | |
3 | g.53801224T>A | CA353250577 | CACNA1D | c.5267T>A (p.Val1756Glu) n.2206T>A n.642T>A c.5207T>A (p.Val1736Glu) c.5162T>A (p.Val1721Glu) c.1328T>A n.563T>A n.634T>A c.5234T>A (p.Val1745Glu) c.4286T>A (p.Val1429Glu) c.5462T>A (p.Val1821Glu) c.5351T>A (p.Val1784Glu) c.5273T>A (p.Val1758Glu) c.4925T>A (p.Val1642Glu) c.4550T>A (p.Val1517Glu) c.5357T>A (p.Val1786Glu) c.5459T>A (p.Val1820Glu) c.5402T>A (p.Val1801Glu) c.5378T>A (p.Val1793Glu) c.5333T>A (p.Val1778Glu) | |
3 | g.53801224T>C | CA353250582 | CACNA1D | c.5267T>C (p.Val1756Ala) n.2206T>C n.642T>C c.5207T>C (p.Val1736Ala) c.5162T>C (p.Val1721Ala) c.1328T>C n.563T>C n.634T>C c.5234T>C (p.Val1745Ala) c.4286T>C (p.Val1429Ala) c.5462T>C (p.Val1821Ala) c.5351T>C (p.Val1784Ala) c.5273T>C (p.Val1758Ala) c.4925T>C (p.Val1642Ala) c.4550T>C (p.Val1517Ala) c.5357T>C (p.Val1786Ala) c.5459T>C (p.Val1820Ala) c.5402T>C (p.Val1801Ala) c.5378T>C (p.Val1793Ala) c.5333T>C (p.Val1778Ala) | |
3 | g.53801224T>G | CA353250574 | CACNA1D | c.5267T>G (p.Val1756Gly) n.2206T>G n.642T>G c.5207T>G (p.Val1736Gly) c.5162T>G (p.Val1721Gly) c.1328T>G n.563T>G n.634T>G c.5234T>G (p.Val1745Gly) c.4286T>G (p.Val1429Gly) c.5462T>G (p.Val1821Gly) c.5351T>G (p.Val1784Gly) c.5273T>G (p.Val1758Gly) c.4925T>G (p.Val1642Gly) c.4550T>G (p.Val1517Gly) c.5357T>G (p.Val1786Gly) c.5459T>G (p.Val1820Gly) c.5402T>G (p.Val1801Gly) c.5378T>G (p.Val1793Gly) c.5333T>G (p.Val1778Gly) | COSMIC COSMIC |
3 | g.53801225G>A | CA433896081 | CACNA1D | c.5268G>A (p.Val1756=) n.2207G>A n.643G>A c.5208G>A (p.Val1736=) c.5163G>A (p.Val1721=) c.1329G>A n.564G>A n.635G>A c.5235G>A (p.Val1745=) c.4287G>A (p.Val1429=) c.5463G>A (p.Val1821=) c.5352G>A (p.Val1784=) c.5274G>A (p.Val1758=) c.4926G>A (p.Val1642=) c.4551G>A (p.Val1517=) c.5358G>A (p.Val1786=) c.5460G>A (p.Val1820=) c.5403G>A (p.Val1801=) c.5379G>A (p.Val1793=) c.5334G>A (p.Val1778=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.53801225G>C | CA433896082 | CACNA1D | c.5268G>C (p.Val1756=) n.2207G>C n.643G>C c.5208G>C (p.Val1736=) c.5163G>C (p.Val1721=) c.1329G>C n.564G>C n.635G>C c.5235G>C (p.Val1745=) c.4287G>C (p.Val1429=) c.5463G>C (p.Val1821=) c.5352G>C (p.Val1784=) c.5274G>C (p.Val1758=) c.4926G>C (p.Val1642=) c.4551G>C (p.Val1517=) c.5358G>C (p.Val1786=) c.5460G>C (p.Val1820=) c.5403G>C (p.Val1801=) c.5379G>C (p.Val1793=) c.5334G>C (p.Val1778=) | |
3 | g.53801225G= | CA1365484170 | CACNA1D | c.5268G= (p.Val1756=) n.2207G= n.643G= c.5208G= (p.Val1736=) c.5163G= (p.Val1721=) c.1329G= n.564G= n.635G= c.5235G= (p.Val1745=) c.4287G= (p.Val1429=) c.5463G= (p.Val1821=) c.5352G= (p.Val1784=) c.5274G= (p.Val1758=) c.4926G= (p.Val1642=) c.4551G= (p.Val1517=) c.5358G= (p.Val1786=) c.5460G= (p.Val1820=) c.5403G= (p.Val1801=) c.5379G= (p.Val1793=) c.5334G= (p.Val1778=) | |
3 | g.53801225G>T | CA433896083 | CACNA1D | c.5268G>T (p.Val1756=) n.2207G>T n.643G>T c.5208G>T (p.Val1736=) c.5163G>T (p.Val1721=) c.1329G>T n.564G>T n.635G>T c.5235G>T (p.Val1745=) c.4287G>T (p.Val1429=) c.5463G>T (p.Val1821=) c.5352G>T (p.Val1784=) c.5274G>T (p.Val1758=) c.4926G>T (p.Val1642=) c.4551G>T (p.Val1517=) c.5358G>T (p.Val1786=) c.5460G>T (p.Val1820=) c.5403G>T (p.Val1801=) c.5379G>T (p.Val1793=) c.5334G>T (p.Val1778=) | |
3 | g.53801226T>A | CA353250588 | CACNA1D | c.5269T>A (p.Cys1757Ser) n.2208T>A n.644T>A c.5209T>A (p.Cys1737Ser) c.5164T>A (p.Cys1722Ser) c.1330T>A n.565T>A n.636T>A c.5236T>A (p.Cys1746Ser) c.4288T>A (p.Cys1430Ser) c.5464T>A (p.Cys1822Ser) c.5353T>A (p.Cys1785Ser) c.5275T>A (p.Cys1759Ser) c.4927T>A (p.Cys1643Ser) c.4552T>A (p.Cys1518Ser) c.5359T>A (p.Cys1787Ser) c.5461T>A (p.Cys1821Ser) c.5404T>A (p.Cys1802Ser) c.5380T>A (p.Cys1794Ser) c.5335T>A (p.Cys1779Ser) | |
3 | g.53801226T>C | CA353250586 | CACNA1D | c.5269T>C (p.Cys1757Arg) n.2208T>C n.644T>C c.5209T>C (p.Cys1737Arg) c.5164T>C (p.Cys1722Arg) c.1330T>C n.565T>C n.636T>C c.5236T>C (p.Cys1746Arg) c.4288T>C (p.Cys1430Arg) c.5464T>C (p.Cys1822Arg) c.5353T>C (p.Cys1785Arg) c.5275T>C (p.Cys1759Arg) c.4927T>C (p.Cys1643Arg) c.4552T>C (p.Cys1518Arg) c.5359T>C (p.Cys1787Arg) c.5461T>C (p.Cys1821Arg) c.5404T>C (p.Cys1802Arg) c.5380T>C (p.Cys1794Arg) c.5335T>C (p.Cys1779Arg) | |
3 | g.53801226T>G | CA353250590 | CACNA1D | c.5269T>G (p.Cys1757Gly) n.2208T>G n.644T>G c.5209T>G (p.Cys1737Gly) c.5164T>G (p.Cys1722Gly) c.1330T>G n.565T>G n.636T>G c.5236T>G (p.Cys1746Gly) c.4288T>G (p.Cys1430Gly) c.5464T>G (p.Cys1822Gly) c.5353T>G (p.Cys1785Gly) c.5275T>G (p.Cys1759Gly) c.4927T>G (p.Cys1643Gly) c.4552T>G (p.Cys1518Gly) c.5359T>G (p.Cys1787Gly) c.5461T>G (p.Cys1821Gly) c.5404T>G (p.Cys1802Gly) c.5380T>G (p.Cys1794Gly) c.5335T>G (p.Cys1779Gly) | |
3 | g.53801227G>A | CA353250593 | CACNA1D | c.5270G>A (p.Cys1757Tyr) n.2209G>A n.645G>A c.5210G>A (p.Cys1737Tyr) c.5165G>A (p.Cys1722Tyr) c.1331G>A n.566G>A n.637G>A c.5237G>A (p.Cys1746Tyr) c.4289G>A (p.Cys1430Tyr) c.5465G>A (p.Cys1822Tyr) c.5354G>A (p.Cys1785Tyr) c.5276G>A (p.Cys1759Tyr) c.4928G>A (p.Cys1643Tyr) c.4553G>A (p.Cys1518Tyr) c.5360G>A (p.Cys1787Tyr) c.5462G>A (p.Cys1821Tyr) c.5405G>A (p.Cys1802Tyr) c.5381G>A (p.Cys1794Tyr) c.5336G>A (p.Cys1779Tyr) | gnomAD v4 |
3 | g.53801227G>C | CA353250594 | CACNA1D | c.5270G>C (p.Cys1757Ser) n.2209G>C n.645G>C c.5210G>C (p.Cys1737Ser) c.5165G>C (p.Cys1722Ser) c.1331G>C n.566G>C n.637G>C c.5237G>C (p.Cys1746Ser) c.4289G>C (p.Cys1430Ser) c.5465G>C (p.Cys1822Ser) c.5354G>C (p.Cys1785Ser) c.5276G>C (p.Cys1759Ser) c.4928G>C (p.Cys1643Ser) c.4553G>C (p.Cys1518Ser) c.5360G>C (p.Cys1787Ser) c.5462G>C (p.Cys1821Ser) c.5405G>C (p.Cys1802Ser) c.5381G>C (p.Cys1794Ser) c.5336G>C (p.Cys1779Ser) | |
3 | g.53801227G>T | CA353250595 | CACNA1D | c.5270G>T (p.Cys1757Phe) n.2209G>T n.645G>T c.5210G>T (p.Cys1737Phe) c.5165G>T (p.Cys1722Phe) c.1331G>T n.566G>T n.637G>T c.5237G>T (p.Cys1746Phe) c.4289G>T (p.Cys1430Phe) c.5465G>T (p.Cys1822Phe) c.5354G>T (p.Cys1785Phe) c.5276G>T (p.Cys1759Phe) c.4928G>T (p.Cys1643Phe) c.4553G>T (p.Cys1518Phe) c.5360G>T (p.Cys1787Phe) c.5462G>T (p.Cys1821Phe) c.5405G>T (p.Cys1802Phe) c.5381G>T (p.Cys1794Phe) c.5336G>T (p.Cys1779Phe) | |
3 | g.53801227_53801236delinsGTCATAACCA | CA1365484171 | CACNA1D | c.5270_5279delinsGTCATAACCA (p.Cys1757=) n.2209_2218delinsGTCATAACCA n.645_654delinsGTCATAACCA c.5210_5219delinsGTCATAACCA (p.Cys1737=) c.5165_5174delinsGTCATAACCA (p.Cys1722=) c.1331_1340delinsGTCATAACCA n.566_575delinsGTCATAACCA n.637_646delinsGTCATAACCA c.5237_5246delinsGTCATAACCA (p.Cys1746=) c.4289_4298delinsGTCATAACCA (p.Cys1430=) c.5465_5474delinsGTCATAACCA (p.Cys1822=) c.5354_5363delinsGTCATAACCA (p.Cys1785=) c.5276_5285delinsGTCATAACCA (p.Cys1759=) c.4928_4937delinsGTCATAACCA (p.Cys1643=) c.4553_4562delinsGTCATAACCA (p.Cys1518=) c.5360_5369delinsGTCATAACCA (p.Cys1787=) c.5462_5471delinsGTCATAACCA (p.Cys1821=) c.5405_5414delinsGTCATAACCA (p.Cys1802=) c.5381_5390delinsGTCATAACCA (p.Cys1794=) c.5336_5345delinsGTCATAACCA (p.Cys1779=) | |
3 | g.53801228T>A | CA353250599 | CACNA1D | c.5271T>A (p.Cys1757Ter) n.2210T>A n.646T>A c.5211T>A (p.Cys1737Ter) c.5166T>A (p.Cys1722Ter) c.1332T>A n.567T>A n.638T>A c.5238T>A (p.Cys1746Ter) c.4290T>A (p.Cys1430Ter) c.5466T>A (p.Cys1822Ter) c.5355T>A (p.Cys1785Ter) c.5277T>A (p.Cys1759Ter) c.4929T>A (p.Cys1643Ter) c.4554T>A (p.Cys1518Ter) c.5361T>A (p.Cys1787Ter) c.5463T>A (p.Cys1821Ter) c.5406T>A (p.Cys1802Ter) c.5382T>A (p.Cys1794Ter) c.5337T>A (p.Cys1779Ter) | |
3 | g.53801228T>C | CA433896087 | CACNA1D | c.5271T>C (p.Cys1757=) n.2210T>C n.646T>C c.5211T>C (p.Cys1737=) c.5166T>C (p.Cys1722=) c.1332T>C n.567T>C n.638T>C c.5238T>C (p.Cys1746=) c.4290T>C (p.Cys1430=) c.5466T>C (p.Cys1822=) c.5355T>C (p.Cys1785=) c.5277T>C (p.Cys1759=) c.4929T>C (p.Cys1643=) c.4554T>C (p.Cys1518=) c.5361T>C (p.Cys1787=) c.5463T>C (p.Cys1821=) c.5406T>C (p.Cys1802=) c.5382T>C (p.Cys1794=) c.5337T>C (p.Cys1779=) | |
3 | g.53801228T>G | CA353250601 | CACNA1D | c.5271T>G (p.Cys1757Trp) n.2210T>G n.646T>G c.5211T>G (p.Cys1737Trp) c.5166T>G (p.Cys1722Trp) c.1332T>G n.567T>G n.638T>G c.5238T>G (p.Cys1746Trp) c.4290T>G (p.Cys1430Trp) c.5466T>G (p.Cys1822Trp) c.5355T>G (p.Cys1785Trp) c.5277T>G (p.Cys1759Trp) c.4929T>G (p.Cys1643Trp) c.4554T>G (p.Cys1518Trp) c.5361T>G (p.Cys1787Trp) c.5463T>G (p.Cys1821Trp) c.5406T>G (p.Cys1802Trp) c.5382T>G (p.Cys1794Trp) c.5337T>G (p.Cys1779Trp) | |
3 | g.53801238_53801246del | CA1048074805 | CACNA1D | c.5281_5289del (p.His1761_His1763del) n.2220_2228del n.656_664del c.5221_5229del (p.His1741_His1743del) c.5176_5184del (p.His1726_His1728del) c.1342_1350del n.577_585del n.648_656del c.5248_5256del (p.His1750_His1752del) c.4300_4308del (p.His1434_His1436del) c.5476_5484del (p.His1826_His1828del) c.5365_5373del (p.His1789_His1791del) c.5287_5295del (p.His1763_His1765del) c.4939_4947del (p.His1647_His1649del) c.4564_4572del (p.His1522_His1524del) c.5371_5379del (p.His1791_His1793del) c.5473_5481del (p.His1825_His1827del) c.5416_5424del (p.His1806_His1808del) c.5392_5400del (p.His1798_His1800del) c.5347_5355del (p.His1783_His1785del) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.53801229C>A | CA353250604 | CACNA1D | c.5272C>A (p.His1758Asn) n.2211C>A n.647C>A c.5212C>A (p.His1738Asn) c.5167C>A (p.His1723Asn) c.1333C>A n.568C>A n.639C>A c.5239C>A (p.His1747Asn) c.4291C>A (p.His1431Asn) c.5467C>A (p.His1823Asn) c.5356C>A (p.His1786Asn) c.5278C>A (p.His1760Asn) c.4930C>A (p.His1644Asn) c.4555C>A (p.His1519Asn) c.5362C>A (p.His1788Asn) c.5464C>A (p.His1822Asn) c.5407C>A (p.His1803Asn) c.5383C>A (p.His1795Asn) c.5338C>A (p.His1780Asn) | |
3 | g.53801229C>G | CA353250605 | CACNA1D | c.5272C>G (p.His1758Asp) n.2211C>G n.647C>G c.5212C>G (p.His1738Asp) c.5167C>G (p.His1723Asp) c.1333C>G n.568C>G n.639C>G c.5239C>G (p.His1747Asp) c.4291C>G (p.His1431Asp) c.5467C>G (p.His1823Asp) c.5356C>G (p.His1786Asp) c.5278C>G (p.His1760Asp) c.4930C>G (p.His1644Asp) c.4555C>G (p.His1519Asp) c.5362C>G (p.His1788Asp) c.5464C>G (p.His1822Asp) c.5407C>G (p.His1803Asp) c.5383C>G (p.His1795Asp) c.5338C>G (p.His1780Asp) | |
3 | g.53801229C>T | CA353250608 | CACNA1D | c.5272C>T (p.His1758Tyr) n.2211C>T n.647C>T c.5212C>T (p.His1738Tyr) c.5167C>T (p.His1723Tyr) c.1333C>T n.568C>T n.639C>T c.5239C>T (p.His1747Tyr) c.4291C>T (p.His1431Tyr) c.5467C>T (p.His1823Tyr) c.5356C>T (p.His1786Tyr) c.5278C>T (p.His1760Tyr) c.4930C>T (p.His1644Tyr) c.4555C>T (p.His1519Tyr) c.5362C>T (p.His1788Tyr) c.5464C>T (p.His1822Tyr) c.5407C>T (p.His1803Tyr) c.5383C>T (p.His1795Tyr) c.5338C>T (p.His1780Tyr) | |
3 | g.53801230A= | CA1365484172 | CACNA1D | c.5273A= (p.His1758=) n.2212A= n.648A= c.5213A= (p.His1738=) c.5168A= (p.His1723=) c.1334A= n.569A= n.640A= c.5240A= (p.His1747=) c.4292A= (p.His1431=) c.5468A= (p.His1823=) c.5357A= (p.His1786=) c.5279A= (p.His1760=) c.4931A= (p.His1644=) c.4556A= (p.His1519=) c.5363A= (p.His1788=) c.5465A= (p.His1822=) c.5408A= (p.His1803=) c.5384A= (p.His1795=) c.5339A= (p.His1780=) | |
3 | g.53801230A>C | CA353250609 | CACNA1D | c.5273A>C (p.His1758Pro) n.2212A>C n.648A>C c.5213A>C (p.His1738Pro) c.5168A>C (p.His1723Pro) c.1334A>C n.569A>C n.640A>C c.5240A>C (p.His1747Pro) c.4292A>C (p.His1431Pro) c.5468A>C (p.His1823Pro) c.5357A>C (p.His1786Pro) c.5279A>C (p.His1760Pro) c.4931A>C (p.His1644Pro) c.4556A>C (p.His1519Pro) c.5363A>C (p.His1788Pro) c.5465A>C (p.His1822Pro) c.5408A>C (p.His1803Pro) c.5384A>C (p.His1795Pro) c.5339A>C (p.His1780Pro) | dbSNP |
3 | g.53801230A>G | CA353250612 | CACNA1D | c.5273A>G (p.His1758Arg) n.2212A>G n.648A>G c.5213A>G (p.His1738Arg) c.5168A>G (p.His1723Arg) c.1334A>G n.569A>G n.640A>G c.5240A>G (p.His1747Arg) c.4292A>G (p.His1431Arg) c.5468A>G (p.His1823Arg) c.5357A>G (p.His1786Arg) c.5279A>G (p.His1760Arg) c.4931A>G (p.His1644Arg) c.4556A>G (p.His1519Arg) c.5363A>G (p.His1788Arg) c.5465A>G (p.His1822Arg) c.5408A>G (p.His1803Arg) c.5384A>G (p.His1795Arg) c.5339A>G (p.His1780Arg) | |
3 | g.53801230A>T | CA353250614 | CACNA1D | c.5273A>T (p.His1758Leu) n.2212A>T n.648A>T c.5213A>T (p.His1738Leu) c.5168A>T (p.His1723Leu) c.1334A>T n.569A>T n.640A>T c.5240A>T (p.His1747Leu) c.4292A>T (p.His1431Leu) c.5468A>T (p.His1823Leu) c.5357A>T (p.His1786Leu) c.5279A>T (p.His1760Leu) c.4931A>T (p.His1644Leu) c.4556A>T (p.His1519Leu) c.5363A>T (p.His1788Leu) c.5465A>T (p.His1822Leu) c.5408A>T (p.His1803Leu) c.5384A>T (p.His1795Leu) c.5339A>T (p.His1780Leu) | |
3 | g.53801231T>A | CA353250616 | CACNA1D | c.5274T>A (p.His1758Gln) n.2213T>A n.649T>A c.5214T>A (p.His1738Gln) c.5169T>A (p.His1723Gln) c.1335T>A n.570T>A n.641T>A c.5241T>A (p.His1747Gln) c.4293T>A (p.His1431Gln) c.5469T>A (p.His1823Gln) c.5358T>A (p.His1786Gln) c.5280T>A (p.His1760Gln) c.4932T>A (p.His1644Gln) c.4557T>A (p.His1519Gln) c.5364T>A (p.His1788Gln) c.5466T>A (p.His1822Gln) c.5409T>A (p.His1803Gln) c.5385T>A (p.His1795Gln) c.5340T>A (p.His1780Gln) | |
3 | g.53801231T>C | CA433896090 | CACNA1D | c.5274T>C (p.His1758=) n.2213T>C n.649T>C c.5214T>C (p.His1738=) c.5169T>C (p.His1723=) c.1335T>C n.570T>C n.641T>C c.5241T>C (p.His1747=) c.4293T>C (p.His1431=) c.5469T>C (p.His1823=) c.5358T>C (p.His1786=) c.5280T>C (p.His1760=) c.4932T>C (p.His1644=) c.4557T>C (p.His1519=) c.5364T>C (p.His1788=) c.5466T>C (p.His1822=) c.5409T>C (p.His1803=) c.5385T>C (p.His1795=) c.5340T>C (p.His1780=) | |
3 | g.53801231T>G | CA353250618 | CACNA1D | c.5274T>G (p.His1758Gln) n.2213T>G n.649T>G c.5214T>G (p.His1738Gln) c.5169T>G (p.His1723Gln) c.1335T>G n.570T>G n.641T>G c.5241T>G (p.His1747Gln) c.4293T>G (p.His1431Gln) c.5469T>G (p.His1823Gln) c.5358T>G (p.His1786Gln) c.5280T>G (p.His1760Gln) c.4932T>G (p.His1644Gln) c.4557T>G (p.His1519Gln) c.5364T>G (p.His1788Gln) c.5466T>G (p.His1822Gln) c.5409T>G (p.His1803Gln) c.5385T>G (p.His1795Gln) c.5340T>G (p.His1780Gln) |