| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.13231742A>C | CA404334378 | CACNA1A | c.5368T>G (p.Phe1790Val) c.5374T>G (p.Phe1792Val) c.787T>G n.592T>G c.529T>G (p.Phe177Val) c.5371T>G (p.Phe1791Val) n.1357T>G c.463T>G (p.Phe155Val) c.5377T>G (p.Phe1793Val) c.5386T>G (p.Phe1796Val) c.5230T>G (p.Phe1744Val) c.562T>G n.761T>G c.772T>G (p.Phe258Val) n.362T>G c.5572T>G (p.Phe1858Val) c.1426T>G (p.Phe476Val) c.829T>G (p.Phe277Val) | |
| 19 | g.13231742A>G | CA404334376 | CACNA1A | c.5368T>C (p.Phe1790Leu) c.5374T>C (p.Phe1792Leu) c.787T>C n.592T>C c.529T>C (p.Phe177Leu) c.5371T>C (p.Phe1791Leu) n.1357T>C c.463T>C (p.Phe155Leu) c.5377T>C (p.Phe1793Leu) c.5386T>C (p.Phe1796Leu) c.5230T>C (p.Phe1744Leu) c.562T>C n.761T>C c.772T>C (p.Phe258Leu) n.362T>C c.5572T>C (p.Phe1858Leu) c.1426T>C (p.Phe476Leu) c.829T>C (p.Phe277Leu) | |
| 19 | g.13231742A>T | CA404334374 | CACNA1A | c.5368T>A (p.Phe1790Ile) c.5374T>A (p.Phe1792Ile) c.787T>A n.592T>A c.529T>A (p.Phe177Ile) c.5371T>A (p.Phe1791Ile) n.1357T>A c.463T>A (p.Phe155Ile) c.5377T>A (p.Phe1793Ile) c.5386T>A (p.Phe1796Ile) c.5230T>A (p.Phe1744Ile) c.562T>A n.761T>A c.772T>A (p.Phe258Ile) n.362T>A c.5572T>A (p.Phe1858Ile) c.1426T>A (p.Phe476Ile) c.829T>A (p.Phe277Ile) | |
| 19 | g.13231743G>A | CA505657122 | CACNA1A | c.5367C>T (p.Tyr1789=) c.5373C>T (p.Tyr1791=) c.786C>T n.591C>T c.528C>T (p.Tyr176=) c.5370C>T (p.Tyr1790=) n.1356C>T c.462C>T (p.Tyr154=) c.5376C>T (p.Tyr1792=) c.5385C>T (p.Tyr1795=) c.5229C>T (p.Tyr1743=) c.561C>T n.760C>T c.771C>T (p.Tyr257=) n.361C>T c.5571C>T (p.Tyr1857=) c.1425C>T (p.Tyr475=) c.828C>T (p.Tyr276=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.13231743G>C | CA404334380 | CACNA1A | c.5367C>G (p.Tyr1789Ter) c.5373C>G (p.Tyr1791Ter) c.786C>G n.591C>G c.528C>G (p.Tyr176Ter) c.5370C>G (p.Tyr1790Ter) n.1356C>G c.462C>G (p.Tyr154Ter) c.5376C>G (p.Tyr1792Ter) c.5385C>G (p.Tyr1795Ter) c.5229C>G (p.Tyr1743Ter) c.561C>G n.760C>G c.771C>G (p.Tyr257Ter) n.361C>G c.5571C>G (p.Tyr1857Ter) c.1425C>G (p.Tyr475Ter) c.828C>G (p.Tyr276Ter) | |
| 19 | g.13231743G= | CA2323793788 | CACNA1A | c.5367C= (p.Tyr1789=) c.5373C= (p.Tyr1791=) c.786C= n.591C= c.528C= (p.Tyr176=) c.5370C= (p.Tyr1790=) n.1356C= c.462C= (p.Tyr154=) c.5376C= (p.Tyr1792=) c.5385C= (p.Tyr1795=) c.5229C= (p.Tyr1743=) c.561C= n.760C= c.771C= (p.Tyr257=) n.361C= c.5571C= (p.Tyr1857=) c.1425C= (p.Tyr475=) c.828C= (p.Tyr276=) | |
| 19 | g.13231743G>T | CA404334382 | CACNA1A | c.5367C>A (p.Tyr1789Ter) c.5373C>A (p.Tyr1791Ter) c.786C>A n.591C>A c.528C>A (p.Tyr176Ter) c.5370C>A (p.Tyr1790Ter) n.1356C>A c.462C>A (p.Tyr154Ter) c.5376C>A (p.Tyr1792Ter) c.5385C>A (p.Tyr1795Ter) c.5229C>A (p.Tyr1743Ter) c.561C>A n.760C>A c.771C>A (p.Tyr257Ter) n.361C>A c.5571C>A (p.Tyr1857Ter) c.1425C>A (p.Tyr475Ter) c.828C>A (p.Tyr276Ter) | |
| 19 | g.13231744T>A | CA404334385 | CACNA1A | c.5366A>T (p.Tyr1789Phe) c.5372A>T (p.Tyr1791Phe) c.785A>T n.590A>T c.527A>T (p.Tyr176Phe) c.5369A>T (p.Tyr1790Phe) n.1355A>T c.461A>T (p.Tyr154Phe) c.5375A>T (p.Tyr1792Phe) c.5384A>T (p.Tyr1795Phe) c.5228A>T (p.Tyr1743Phe) c.560A>T n.759A>T c.770A>T (p.Tyr257Phe) n.360A>T c.5570A>T (p.Tyr1857Phe) c.1424A>T (p.Tyr475Phe) c.827A>T (p.Tyr276Phe) | |
| 19 | g.13231744T>C | CA404334386 | CACNA1A | c.5366A>G (p.Tyr1789Cys) c.5372A>G (p.Tyr1791Cys) c.785A>G n.590A>G c.527A>G (p.Tyr176Cys) c.5369A>G (p.Tyr1790Cys) n.1355A>G c.461A>G (p.Tyr154Cys) c.5375A>G (p.Tyr1792Cys) c.5384A>G (p.Tyr1795Cys) c.5228A>G (p.Tyr1743Cys) c.560A>G n.759A>G c.770A>G (p.Tyr257Cys) n.360A>G c.5570A>G (p.Tyr1857Cys) c.1424A>G (p.Tyr475Cys) c.827A>G (p.Tyr276Cys) | |
| 19 | g.13231744T>G | CA404334389 | CACNA1A | c.5366A>C (p.Tyr1789Ser) c.5372A>C (p.Tyr1791Ser) c.785A>C n.590A>C c.527A>C (p.Tyr176Ser) c.5369A>C (p.Tyr1790Ser) n.1355A>C c.461A>C (p.Tyr154Ser) c.5375A>C (p.Tyr1792Ser) c.5384A>C (p.Tyr1795Ser) c.5228A>C (p.Tyr1743Ser) c.560A>C n.759A>C c.770A>C (p.Tyr257Ser) n.360A>C c.5570A>C (p.Tyr1857Ser) c.1424A>C (p.Tyr475Ser) c.827A>C (p.Tyr276Ser) | |
| 19 | g.13231745A>C | CA404334395 | CACNA1A | c.5365T>G (p.Tyr1789Asp) c.5371T>G (p.Tyr1791Asp) c.784T>G n.589T>G c.526T>G (p.Tyr176Asp) c.5368T>G (p.Tyr1790Asp) n.1354T>G c.460T>G (p.Tyr154Asp) c.5374T>G (p.Tyr1792Asp) c.5383T>G (p.Tyr1795Asp) c.5227T>G (p.Tyr1743Asp) c.559T>G n.758T>G c.769T>G (p.Tyr257Asp) n.359T>G c.5569T>G (p.Tyr1857Asp) c.1423T>G (p.Tyr475Asp) c.826T>G (p.Tyr276Asp) | |
| 19 | g.13231745A>G | CA404334393 | CACNA1A | c.5365T>C (p.Tyr1789His) c.5371T>C (p.Tyr1791His) c.784T>C n.589T>C c.526T>C (p.Tyr176His) c.5368T>C (p.Tyr1790His) n.1354T>C c.460T>C (p.Tyr154His) c.5374T>C (p.Tyr1792His) c.5383T>C (p.Tyr1795His) c.5227T>C (p.Tyr1743His) c.559T>C n.758T>C c.769T>C (p.Tyr257His) n.359T>C c.5569T>C (p.Tyr1857His) c.1423T>C (p.Tyr475His) c.826T>C (p.Tyr276His) | |
| 19 | g.13231745A>T | CA404334391 | CACNA1A | c.5365T>A (p.Tyr1789Asn) c.5371T>A (p.Tyr1791Asn) c.784T>A n.589T>A c.526T>A (p.Tyr176Asn) c.5368T>A (p.Tyr1790Asn) n.1354T>A c.460T>A (p.Tyr154Asn) c.5374T>A (p.Tyr1792Asn) c.5383T>A (p.Tyr1795Asn) c.5227T>A (p.Tyr1743Asn) c.559T>A n.758T>A c.769T>A (p.Tyr257Asn) n.359T>A c.5569T>A (p.Tyr1857Asn) c.1423T>A (p.Tyr475Asn) c.826T>A (p.Tyr276Asn) | |
| 19 | g.13231749del | CA2695201649 | CACNA1A | c.5365del (p.Tyr1789ThrfsTer12) c.5371del (p.Tyr1791ThrfsTer12) c.784del n.589del c.526del (p.Tyr176ThrfsTer12) c.5368del (p.Tyr1790ThrfsTer12) n.1354del c.460del (p.Tyr154ThrfsTer?) c.5374del (p.Tyr1792ThrfsTer12) c.5383del (p.Tyr1795ThrfsTer12) c.5227del (p.Tyr1743ThrfsTer12) c.559del n.758del c.769del (p.Tyr257ThrfsTer12) n.359del c.5569del (p.Tyr1857ThrfsTer12) c.1423del (p.Tyr475ThrfsTer12) c.826del (p.Tyr276ThrfsTer12) | |
| 19 | g.13231746A= | CA2323793789 | CACNA1A | c.5364T= (p.Phe1788=) c.5370T= (p.Phe1790=) c.783T= n.588T= c.525T= (p.Phe175=) c.5367T= (p.Phe1789=) n.1353T= c.459T= (p.Phe153=) c.5373T= (p.Phe1791=) c.5382T= (p.Phe1794=) c.5226T= (p.Phe1742=) c.558T= n.757T= c.768T= (p.Phe256=) n.358T= c.5568T= (p.Phe1856=) c.1422T= (p.Phe474=) c.825T= (p.Phe275=) | |
| 19 | g.13231746A>C | CA404334397 | CACNA1A | c.5364T>G (p.Phe1788Leu) c.5370T>G (p.Phe1790Leu) c.783T>G n.588T>G c.525T>G (p.Phe175Leu) c.5367T>G (p.Phe1789Leu) n.1353T>G c.459T>G (p.Phe153Leu) c.5373T>G (p.Phe1791Leu) c.5382T>G (p.Phe1794Leu) c.5226T>G (p.Phe1742Leu) c.558T>G n.757T>G c.768T>G (p.Phe256Leu) n.358T>G c.5568T>G (p.Phe1856Leu) c.1422T>G (p.Phe474Leu) c.825T>G (p.Phe275Leu) | |
| 19 | g.13231746A>G | CA305513897 | CACNA1A | c.5364T>C (p.Phe1788=) c.5370T>C (p.Phe1790=) c.783T>C n.588T>C c.525T>C (p.Phe175=) c.5367T>C (p.Phe1789=) n.1353T>C c.459T>C (p.Phe153=) c.5373T>C (p.Phe1791=) c.5382T>C (p.Phe1794=) c.5226T>C (p.Phe1742=) c.558T>C n.757T>C c.768T>C (p.Phe256=) n.358T>C c.5568T>C (p.Phe1856=) c.1422T>C (p.Phe474=) c.825T>C (p.Phe275=) | dbSNP gnomAD v4 |
| 19 | g.13231746A>T | CA404334398 | CACNA1A | c.5364T>A (p.Phe1788Leu) c.5370T>A (p.Phe1790Leu) c.783T>A n.588T>A c.525T>A (p.Phe175Leu) c.5367T>A (p.Phe1789Leu) n.1353T>A c.459T>A (p.Phe153Leu) c.5373T>A (p.Phe1791Leu) c.5382T>A (p.Phe1794Leu) c.5226T>A (p.Phe1742Leu) c.558T>A n.757T>A c.768T>A (p.Phe256Leu) n.358T>A c.5568T>A (p.Phe1856Leu) c.1422T>A (p.Phe474Leu) c.825T>A (p.Phe275Leu) | |
| 19 | g.13231747A>C | CA404334400 | CACNA1A | c.5363T>G (p.Phe1788Cys) c.5369T>G (p.Phe1790Cys) c.782T>G n.587T>G c.524T>G (p.Phe175Cys) c.5366T>G (p.Phe1789Cys) n.1352T>G c.458T>G (p.Phe153Cys) c.5372T>G (p.Phe1791Cys) c.5381T>G (p.Phe1794Cys) c.5225T>G (p.Phe1742Cys) c.557T>G n.756T>G c.767T>G (p.Phe256Cys) n.357T>G c.5567T>G (p.Phe1856Cys) c.1421T>G (p.Phe474Cys) c.824T>G (p.Phe275Cys) | |
| 19 | g.13231747A>G | CA404334401 | CACNA1A | c.5363T>C (p.Phe1788Ser) c.5369T>C (p.Phe1790Ser) c.782T>C n.587T>C c.524T>C (p.Phe175Ser) c.5366T>C (p.Phe1789Ser) n.1352T>C c.458T>C (p.Phe153Ser) c.5372T>C (p.Phe1791Ser) c.5381T>C (p.Phe1794Ser) c.5225T>C (p.Phe1742Ser) c.557T>C n.756T>C c.767T>C (p.Phe256Ser) n.357T>C c.5567T>C (p.Phe1856Ser) c.1421T>C (p.Phe474Ser) c.824T>C (p.Phe275Ser) | |
| 19 | g.13231747A>T | CA404334403 | CACNA1A | c.5363T>A (p.Phe1788Tyr) c.5369T>A (p.Phe1790Tyr) c.782T>A n.587T>A c.524T>A (p.Phe175Tyr) c.5366T>A (p.Phe1789Tyr) n.1352T>A c.458T>A (p.Phe153Tyr) c.5372T>A (p.Phe1791Tyr) c.5381T>A (p.Phe1794Tyr) c.5225T>A (p.Phe1742Tyr) c.557T>A n.756T>A c.767T>A (p.Phe256Tyr) n.357T>A c.5567T>A (p.Phe1856Tyr) c.1421T>A (p.Phe474Tyr) c.824T>A (p.Phe275Tyr) | |
| 19 | g.13231748A>C | CA404334404 | CACNA1A | c.5362T>G (p.Phe1788Val) c.5368T>G (p.Phe1790Val) c.781T>G n.586T>G c.523T>G (p.Phe175Val) c.5365T>G (p.Phe1789Val) n.1351T>G c.457T>G (p.Phe153Val) c.5371T>G (p.Phe1791Val) c.5380T>G (p.Phe1794Val) c.5224T>G (p.Phe1742Val) c.556T>G n.755T>G c.766T>G (p.Phe256Val) n.356T>G c.5566T>G (p.Phe1856Val) c.1420T>G (p.Phe474Val) c.823T>G (p.Phe275Val) | |
| 19 | g.13231748A>G | CA404334407 | CACNA1A | c.5362T>C (p.Phe1788Leu) c.5368T>C (p.Phe1790Leu) c.781T>C n.586T>C c.523T>C (p.Phe175Leu) c.5365T>C (p.Phe1789Leu) n.1351T>C c.457T>C (p.Phe153Leu) c.5371T>C (p.Phe1791Leu) c.5380T>C (p.Phe1794Leu) c.5224T>C (p.Phe1742Leu) c.556T>C n.755T>C c.766T>C (p.Phe256Leu) n.356T>C c.5566T>C (p.Phe1856Leu) c.1420T>C (p.Phe474Leu) c.823T>C (p.Phe275Leu) | gnomAD v4 |
| 19 | g.13231748A>T | CA404334405 | CACNA1A | c.5362T>A (p.Phe1788Ile) c.5368T>A (p.Phe1790Ile) c.781T>A n.586T>A c.523T>A (p.Phe175Ile) c.5365T>A (p.Phe1789Ile) n.1351T>A c.457T>A (p.Phe153Ile) c.5371T>A (p.Phe1791Ile) c.5380T>A (p.Phe1794Ile) c.5224T>A (p.Phe1742Ile) c.556T>A n.755T>A c.766T>A (p.Phe256Ile) n.356T>A c.5566T>A (p.Phe1856Ile) c.1420T>A (p.Phe474Ile) c.823T>A (p.Phe275Ile) | |
| 19 | g.13231749A= | CA2323793790 | CACNA1A | c.5361T= (p.Tyr1787=) c.5367T= (p.Tyr1789=) c.780T= n.585T= c.522T= (p.Tyr174=) c.5364T= (p.Tyr1788=) n.1350T= c.456T= (p.Tyr152=) c.5370T= (p.Tyr1790=) c.5379T= (p.Tyr1793=) c.5223T= (p.Tyr1741=) c.555T= n.754T= c.765T= (p.Tyr255=) n.355T= c.5565T= (p.Tyr1855=) c.1419T= (p.Tyr473=) c.822T= (p.Tyr274=) | |
| 19 | g.13231749A>C | CA404334409 | CACNA1A | c.5361T>G (p.Tyr1787Ter) c.5367T>G (p.Tyr1789Ter) c.780T>G n.585T>G c.522T>G (p.Tyr174Ter) c.5364T>G (p.Tyr1788Ter) n.1350T>G c.456T>G (p.Tyr152Ter) c.5370T>G (p.Tyr1790Ter) c.5379T>G (p.Tyr1793Ter) c.5223T>G (p.Tyr1741Ter) c.555T>G n.754T>G c.765T>G (p.Tyr255Ter) n.355T>G c.5565T>G (p.Tyr1855Ter) c.1419T>G (p.Tyr473Ter) c.822T>G (p.Tyr274Ter) | |
| 19 | g.13231749A>G | CA505657123 | CACNA1A | c.5361T>C (p.Tyr1787=) c.5367T>C (p.Tyr1789=) c.780T>C n.585T>C c.522T>C (p.Tyr174=) c.5364T>C (p.Tyr1788=) n.1350T>C c.456T>C (p.Tyr152=) c.5370T>C (p.Tyr1790=) c.5379T>C (p.Tyr1793=) c.5223T>C (p.Tyr1741=) c.555T>C n.754T>C c.765T>C (p.Tyr255=) n.355T>C c.5565T>C (p.Tyr1855=) c.1419T>C (p.Tyr473=) c.822T>C (p.Tyr274=) | dbSNP |
| 19 | g.13231749A>T | CA404334411 | CACNA1A | c.5361T>A (p.Tyr1787Ter) c.5367T>A (p.Tyr1789Ter) c.780T>A n.585T>A c.522T>A (p.Tyr174Ter) c.5364T>A (p.Tyr1788Ter) n.1350T>A c.456T>A (p.Tyr152Ter) c.5370T>A (p.Tyr1790Ter) c.5379T>A (p.Tyr1793Ter) c.5223T>A (p.Tyr1741Ter) c.555T>A n.754T>A c.765T>A (p.Tyr255Ter) n.355T>A c.5565T>A (p.Tyr1855Ter) c.1419T>A (p.Tyr473Ter) c.822T>A (p.Tyr274Ter) | |
| 19 | g.13231750T>A | CA404334413 | CACNA1A | c.5360A>T (p.Tyr1787Phe) c.5366A>T (p.Tyr1789Phe) c.779A>T n.584A>T c.521A>T (p.Tyr174Phe) c.5363A>T (p.Tyr1788Phe) n.1349A>T c.455A>T (p.Tyr152Phe) c.5369A>T (p.Tyr1790Phe) c.5378A>T (p.Tyr1793Phe) c.5222A>T (p.Tyr1741Phe) c.554A>T n.753A>T c.764A>T (p.Tyr255Phe) n.354A>T c.5564A>T (p.Tyr1855Phe) c.1418A>T (p.Tyr473Phe) c.821A>T (p.Tyr274Phe) | |
| 19 | g.13231750T>C | CA404334415 | CACNA1A | c.5360A>G (p.Tyr1787Cys) c.5366A>G (p.Tyr1789Cys) c.779A>G n.584A>G c.521A>G (p.Tyr174Cys) c.5363A>G (p.Tyr1788Cys) n.1349A>G c.455A>G (p.Tyr152Cys) c.5369A>G (p.Tyr1790Cys) c.5378A>G (p.Tyr1793Cys) c.5222A>G (p.Tyr1741Cys) c.554A>G n.753A>G c.764A>G (p.Tyr255Cys) n.354A>G c.5564A>G (p.Tyr1855Cys) c.1418A>G (p.Tyr473Cys) c.821A>G (p.Tyr274Cys) | COSMIC COSMIC COSMIC COSMIC |
| 19 | g.13231750T>G | CA404334418 | CACNA1A | c.5360A>C (p.Tyr1787Ser) c.5366A>C (p.Tyr1789Ser) c.779A>C n.584A>C c.521A>C (p.Tyr174Ser) c.5363A>C (p.Tyr1788Ser) n.1349A>C c.455A>C (p.Tyr152Ser) c.5369A>C (p.Tyr1790Ser) c.5378A>C (p.Tyr1793Ser) c.5222A>C (p.Tyr1741Ser) c.554A>C n.753A>C c.764A>C (p.Tyr255Ser) n.354A>C c.5564A>C (p.Tyr1855Ser) c.1418A>C (p.Tyr473Ser) c.821A>C (p.Tyr274Ser) | |
| 19 | g.13231751A>C | CA404334420 | CACNA1A | c.5359T>G (p.Tyr1787Asp) c.5365T>G (p.Tyr1789Asp) c.778T>G n.583T>G c.520T>G (p.Tyr174Asp) c.5362T>G (p.Tyr1788Asp) n.1348T>G c.454T>G (p.Tyr152Asp) c.5368T>G (p.Tyr1790Asp) c.5377T>G (p.Tyr1793Asp) c.5221T>G (p.Tyr1741Asp) c.553T>G n.752T>G c.763T>G (p.Tyr255Asp) n.353T>G c.5563T>G (p.Tyr1855Asp) c.1417T>G (p.Tyr473Asp) c.820T>G (p.Tyr274Asp) | |
| 19 | g.13231751A>G | CA404334422 | CACNA1A | c.5359T>C (p.Tyr1787His) c.5365T>C (p.Tyr1789His) c.778T>C n.583T>C c.520T>C (p.Tyr174His) c.5362T>C (p.Tyr1788His) n.1348T>C c.454T>C (p.Tyr152His) c.5368T>C (p.Tyr1790His) c.5377T>C (p.Tyr1793His) c.5221T>C (p.Tyr1741His) c.553T>C n.752T>C c.763T>C (p.Tyr255His) n.353T>C c.5563T>C (p.Tyr1855His) c.1417T>C (p.Tyr473His) c.820T>C (p.Tyr274His) | |
| 19 | g.13231751A>T | CA404334424 | CACNA1A | c.5359T>A (p.Tyr1787Asn) c.5365T>A (p.Tyr1789Asn) c.778T>A n.583T>A c.520T>A (p.Tyr174Asn) c.5362T>A (p.Tyr1788Asn) n.1348T>A c.454T>A (p.Tyr152Asn) c.5368T>A (p.Tyr1790Asn) c.5377T>A (p.Tyr1793Asn) c.5221T>A (p.Tyr1741Asn) c.553T>A n.752T>A c.763T>A (p.Tyr255Asn) n.353T>A c.5563T>A (p.Tyr1855Asn) c.1417T>A (p.Tyr473Asn) c.820T>A (p.Tyr274Asn) | |
| 19 | g.13231752A>C | CA505657124 | CACNA1A | c.5358T>G (p.Ala1786=) c.5364T>G (p.Ala1788=) c.777T>G n.582T>G c.519T>G (p.Ala173=) c.5361T>G (p.Ala1787=) n.1347T>G c.453T>G (p.Ala151=) c.5367T>G (p.Ala1789=) c.5376T>G (p.Ala1792=) c.5220T>G (p.Ala1740=) c.552T>G n.751T>G c.762T>G (p.Ala254=) n.352T>G c.5562T>G (p.Ala1854=) c.1416T>G (p.Ala472=) c.819T>G (p.Ala273=) | |
| 19 | g.13231752A>G | CA505657125 | CACNA1A | c.5358T>C (p.Ala1786=) c.5364T>C (p.Ala1788=) c.777T>C n.582T>C c.519T>C (p.Ala173=) c.5361T>C (p.Ala1787=) n.1347T>C c.453T>C (p.Ala151=) c.5367T>C (p.Ala1789=) c.5376T>C (p.Ala1792=) c.5220T>C (p.Ala1740=) c.552T>C n.751T>C c.762T>C (p.Ala254=) n.352T>C c.5562T>C (p.Ala1854=) c.1416T>C (p.Ala472=) c.819T>C (p.Ala273=) | |
| 19 | g.13231752A>T | CA505657126 | CACNA1A | c.5358T>A (p.Ala1786=) c.5364T>A (p.Ala1788=) c.777T>A n.582T>A c.519T>A (p.Ala173=) c.5361T>A (p.Ala1787=) n.1347T>A c.453T>A (p.Ala151=) c.5367T>A (p.Ala1789=) c.5376T>A (p.Ala1792=) c.5220T>A (p.Ala1740=) c.552T>A n.751T>A c.762T>A (p.Ala254=) n.352T>A c.5562T>A (p.Ala1854=) c.1416T>A (p.Ala472=) c.819T>A (p.Ala273=) | |
| 19 | g.13231753G>A | CA404334427 | CACNA1A | c.5357C>T (p.Ala1786Val) c.5363C>T (p.Ala1788Val) c.776C>T n.581C>T c.518C>T (p.Ala173Val) c.5360C>T (p.Ala1787Val) n.1346C>T c.452C>T (p.Ala151Val) c.5366C>T (p.Ala1789Val) c.5375C>T (p.Ala1792Val) c.5219C>T (p.Ala1740Val) c.551C>T n.750C>T c.761C>T (p.Ala254Val) n.351C>T c.5561C>T (p.Ala1854Val) c.1415C>T (p.Ala472Val) c.818C>T (p.Ala273Val) | |
| 19 | g.13231753G>C | CA404334429 | CACNA1A | c.5357C>G (p.Ala1786Gly) c.5363C>G (p.Ala1788Gly) c.776C>G n.581C>G c.518C>G (p.Ala173Gly) c.5360C>G (p.Ala1787Gly) n.1346C>G c.452C>G (p.Ala151Gly) c.5366C>G (p.Ala1789Gly) c.5375C>G (p.Ala1792Gly) c.5219C>G (p.Ala1740Gly) c.551C>G n.750C>G c.761C>G (p.Ala254Gly) n.351C>G c.5561C>G (p.Ala1854Gly) c.1415C>G (p.Ala472Gly) c.818C>G (p.Ala273Gly) | |
| 19 | g.13231753G>T | CA404334431 | CACNA1A | c.5357C>A (p.Ala1786Asp) c.5363C>A (p.Ala1788Asp) c.776C>A n.581C>A c.518C>A (p.Ala173Asp) c.5360C>A (p.Ala1787Asp) n.1346C>A c.452C>A (p.Ala151Asp) c.5366C>A (p.Ala1789Asp) c.5375C>A (p.Ala1792Asp) c.5219C>A (p.Ala1740Asp) c.551C>A n.750C>A c.761C>A (p.Ala254Asp) n.351C>A c.5561C>A (p.Ala1854Asp) c.1415C>A (p.Ala472Asp) c.818C>A (p.Ala273Asp) | |
| 19 | g.13231754C>A | CA404334438 | CACNA1A | c.5356G>T (p.Ala1786Ser) c.5362G>T (p.Ala1788Ser) c.775G>T n.580G>T c.517G>T (p.Ala173Ser) c.5359G>T (p.Ala1787Ser) n.1345G>T c.451G>T (p.Ala151Ser) c.5365G>T (p.Ala1789Ser) c.5374G>T (p.Ala1792Ser) c.5218G>T (p.Ala1740Ser) c.550G>T n.749G>T c.760G>T (p.Ala254Ser) n.350G>T c.5560G>T (p.Ala1854Ser) c.1414G>T (p.Ala472Ser) c.817G>T (p.Ala273Ser) | ClinVar |
| 19 | g.13231754C>G | CA404334436 | CACNA1A | c.5356G>C (p.Ala1786Pro) c.5362G>C (p.Ala1788Pro) c.775G>C n.580G>C c.517G>C (p.Ala173Pro) c.5359G>C (p.Ala1787Pro) n.1345G>C c.451G>C (p.Ala151Pro) c.5365G>C (p.Ala1789Pro) c.5374G>C (p.Ala1792Pro) c.5218G>C (p.Ala1740Pro) c.550G>C n.749G>C c.760G>C (p.Ala254Pro) n.350G>C c.5560G>C (p.Ala1854Pro) c.1414G>C (p.Ala472Pro) c.817G>C (p.Ala273Pro) | |
| 19 | g.13231754C>T | CA404334434 | CACNA1A | c.5356G>A (p.Ala1786Thr) c.5362G>A (p.Ala1788Thr) c.775G>A n.580G>A c.517G>A (p.Ala173Thr) c.5359G>A (p.Ala1787Thr) n.1345G>A c.451G>A (p.Ala151Thr) c.5365G>A (p.Ala1789Thr) c.5374G>A (p.Ala1792Thr) c.5218G>A (p.Ala1740Thr) c.550G>A n.749G>A c.760G>A (p.Ala254Thr) n.350G>A c.5560G>A (p.Ala1854Thr) c.1414G>A (p.Ala472Thr) c.817G>A (p.Ala273Thr) | |
| 19 | g.13231755A>C | CA404334440 | CACNA1A | c.5355T>G (p.Phe1785Leu) c.5361T>G (p.Phe1787Leu) c.774T>G n.579T>G c.516T>G (p.Phe172Leu) c.5358T>G (p.Phe1786Leu) n.1344T>G c.450T>G (p.Phe150Leu) c.5364T>G (p.Phe1788Leu) c.5373T>G (p.Phe1791Leu) c.5217T>G (p.Phe1739Leu) c.549T>G n.748T>G c.759T>G (p.Phe253Leu) n.349T>G c.5559T>G (p.Phe1853Leu) c.1413T>G (p.Phe471Leu) c.816T>G (p.Phe272Leu) | |
| 19 | g.13231755A>G | CA505657127 | CACNA1A | c.5355T>C (p.Phe1785=) c.5361T>C (p.Phe1787=) c.774T>C n.579T>C c.516T>C (p.Phe172=) c.5358T>C (p.Phe1786=) n.1344T>C c.450T>C (p.Phe150=) c.5364T>C (p.Phe1788=) c.5373T>C (p.Phe1791=) c.5217T>C (p.Phe1739=) c.549T>C n.748T>C c.759T>C (p.Phe253=) n.349T>C c.5559T>C (p.Phe1853=) c.1413T>C (p.Phe471=) c.816T>C (p.Phe272=) | |
| 19 | g.13231755A>T | CA404334442 | CACNA1A | c.5355T>A (p.Phe1785Leu) c.5361T>A (p.Phe1787Leu) c.774T>A n.579T>A c.516T>A (p.Phe172Leu) c.5358T>A (p.Phe1786Leu) n.1344T>A c.450T>A (p.Phe150Leu) c.5364T>A (p.Phe1788Leu) c.5373T>A (p.Phe1791Leu) c.5217T>A (p.Phe1739Leu) c.549T>A n.748T>A c.759T>A (p.Phe253Leu) n.349T>A c.5559T>A (p.Phe1853Leu) c.1413T>A (p.Phe471Leu) c.816T>A (p.Phe272Leu) | |
| 19 | g.13231756A>C | CA404334444 | CACNA1A | c.5354T>G (p.Phe1785Cys) c.5360T>G (p.Phe1787Cys) c.773T>G n.578T>G c.515T>G (p.Phe172Cys) c.5357T>G (p.Phe1786Cys) n.1343T>G c.449T>G (p.Phe150Cys) c.5363T>G (p.Phe1788Cys) c.5372T>G (p.Phe1791Cys) c.5216T>G (p.Phe1739Cys) c.548T>G n.747T>G c.758T>G (p.Phe253Cys) n.348T>G c.5558T>G (p.Phe1853Cys) c.1412T>G (p.Phe471Cys) c.815T>G (p.Phe272Cys) | |
| 19 | g.13231756A>G | CA404334446 | CACNA1A | c.5354T>C (p.Phe1785Ser) c.5360T>C (p.Phe1787Ser) c.773T>C n.578T>C c.515T>C (p.Phe172Ser) c.5357T>C (p.Phe1786Ser) n.1343T>C c.449T>C (p.Phe150Ser) c.5363T>C (p.Phe1788Ser) c.5372T>C (p.Phe1791Ser) c.5216T>C (p.Phe1739Ser) c.548T>C n.747T>C c.758T>C (p.Phe253Ser) n.348T>C c.5558T>C (p.Phe1853Ser) c.1412T>C (p.Phe471Ser) c.815T>C (p.Phe272Ser) | |
| 19 | g.13231756A>T | CA404334449 | CACNA1A | c.5354T>A (p.Phe1785Tyr) c.5360T>A (p.Phe1787Tyr) c.773T>A n.578T>A c.515T>A (p.Phe172Tyr) c.5357T>A (p.Phe1786Tyr) n.1343T>A c.449T>A (p.Phe150Tyr) c.5363T>A (p.Phe1788Tyr) c.5372T>A (p.Phe1791Tyr) c.5216T>A (p.Phe1739Tyr) c.548T>A n.747T>A c.758T>A (p.Phe253Tyr) n.348T>A c.5558T>A (p.Phe1853Tyr) c.1412T>A (p.Phe471Tyr) c.815T>A (p.Phe272Tyr) | |
| 19 | g.13231757A>C | CA404334452 | CACNA1A | c.5353T>G (p.Phe1785Val) c.5359T>G (p.Phe1787Val) c.772T>G n.577T>G c.514T>G (p.Phe172Val) c.5356T>G (p.Phe1786Val) n.1342T>G c.448T>G (p.Phe150Val) c.5362T>G (p.Phe1788Val) c.5371T>G (p.Phe1791Val) c.5215T>G (p.Phe1739Val) c.547T>G n.746T>G c.757T>G (p.Phe253Val) n.347T>G c.5557T>G (p.Phe1853Val) c.1411T>G (p.Phe471Val) c.814T>G (p.Phe272Val) |