WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.13230185T>A | CA404333749 | CACNA1A | c.5425A>T (p.Ile1809Phe) c.5431A>T (p.Ile1811Phe) c.844A>T n.649A>T c.586A>T (p.Ile196Phe) c.5428A>T (p.Ile1810Phe) n.1414A>T c.495+1525A>T (n.495+1525A>T) c.5434A>T (p.Ile1812Phe) c.52A>T (p.Ile18Phe) c.5443A>T (p.Ile1815Phe) c.5287A>T (p.Ile1763Phe) c.619A>T n.818A>T c.829A>T (p.Ile277Phe) n.419A>T c.5629A>T (p.Ile1877Phe) c.1483A>T (p.Ile495Phe) c.886A>T (p.Ile296Phe) | |
| 19 | g.13230185T>C | CA404333750 | CACNA1A | c.5425A>G (p.Ile1809Val) c.5431A>G (p.Ile1811Val) c.844A>G n.649A>G c.586A>G (p.Ile196Val) c.5428A>G (p.Ile1810Val) n.1414A>G c.495+1525A>G (n.495+1525A>G) c.5434A>G (p.Ile1812Val) c.52A>G (p.Ile18Val) c.5443A>G (p.Ile1815Val) c.5287A>G (p.Ile1763Val) c.619A>G n.818A>G c.829A>G (p.Ile277Val) n.419A>G c.5629A>G (p.Ile1877Val) c.1483A>G (p.Ile495Val) c.886A>G (p.Ile296Val) | ClinVar |
| 19 | g.13230185T>G | CA254421 | CACNA1A | c.5425A>C (p.Ile1809Leu) c.5431A>C (p.Ile1811Leu) c.844A>C n.649A>C c.586A>C (p.Ile196Leu) c.5428A>C (p.Ile1810Leu) n.1414A>C c.495+1525A>C (n.495+1525A>C) c.5434A>C (p.Ile1812Leu) c.52A>C (p.Ile18Leu) c.5443A>C (p.Ile1815Leu) c.5287A>C (p.Ile1763Leu) c.619A>C n.818A>C c.829A>C (p.Ile277Leu) n.419A>C c.5629A>C (p.Ile1877Leu) c.1483A>C (p.Ile495Leu) c.886A>C (p.Ile296Leu) | ClinVar dbSNP |
| 19 | g.13230185T= | CA2323793055 | CACNA1A | c.5425A= (p.Ile1809=) c.5431A= (p.Ile1811=) c.844A= n.649A= c.586A= (p.Ile196=) c.5428A= (p.Ile1810=) n.1414A= c.495+1525A= (n.495+1525A=) c.5434A= (p.Ile1812=) c.52A= (p.Ile18=) c.5443A= (p.Ile1815=) c.5287A= (p.Ile1763=) c.619A= n.818A= c.829A= (p.Ile277=) n.419A= c.5629A= (p.Ile1877=) c.1483A= (p.Ile495=) c.886A= (p.Ile296=) | |
| 19 | g.13230186G>A | CA505657076 | CACNA1A | c.5424C>T (p.Val1808=) c.5430C>T (p.Val1810=) c.843C>T n.648C>T c.585C>T (p.Val195=) c.5427C>T (p.Val1809=) n.1413C>T c.495+1524C>T (n.495+1524C>T) c.5433C>T (p.Val1811=) c.51C>T (p.Val17=) c.5442C>T (p.Val1814=) c.5286C>T (p.Val1762=) c.618C>T n.817C>T c.828C>T (p.Val276=) n.418C>T c.5628C>T (p.Val1876=) c.1482C>T (p.Val494=) c.885C>T (p.Val295=) | gnomAD v4 |
| 19 | g.13230186G>C | CA505657077 | CACNA1A | c.5424C>G (p.Val1808=) c.5430C>G (p.Val1810=) c.843C>G n.648C>G c.585C>G (p.Val195=) c.5427C>G (p.Val1809=) n.1413C>G c.495+1524C>G (n.495+1524C>G) c.5433C>G (p.Val1811=) c.51C>G (p.Val17=) c.5442C>G (p.Val1814=) c.5286C>G (p.Val1762=) c.618C>G n.817C>G c.828C>G (p.Val276=) n.418C>G c.5628C>G (p.Val1876=) c.1482C>G (p.Val494=) c.885C>G (p.Val295=) | |
| 19 | g.13230186G>T | CA505657078 | CACNA1A | c.5424C>A (p.Val1808=) c.5430C>A (p.Val1810=) c.843C>A n.648C>A c.585C>A (p.Val195=) c.5427C>A (p.Val1809=) n.1413C>A c.495+1524C>A (n.495+1524C>A) c.5433C>A (p.Val1811=) c.51C>A (p.Val17=) c.5442C>A (p.Val1814=) c.5286C>A (p.Val1762=) c.618C>A n.817C>A c.828C>A (p.Val276=) n.418C>A c.5628C>A (p.Val1876=) c.1482C>A (p.Val494=) c.885C>A (p.Val295=) | |
| 19 | g.13230187A>C | CA404333753 | CACNA1A | c.5423T>G (p.Val1808Gly) c.5429T>G (p.Val1810Gly) c.842T>G n.647T>G c.584T>G (p.Val195Gly) c.5426T>G (p.Val1809Gly) n.1412T>G c.495+1523T>G (n.495+1523T>G) c.5432T>G (p.Val1811Gly) c.50T>G (p.Val17Gly) c.5441T>G (p.Val1814Gly) c.5285T>G (p.Val1762Gly) c.617T>G n.816T>G c.827T>G (p.Val276Gly) n.417T>G c.5627T>G (p.Val1876Gly) c.1481T>G (p.Val494Gly) c.884T>G (p.Val295Gly) | |
| 19 | g.13230187A>G | CA404333751 | CACNA1A | c.5423T>C (p.Val1808Ala) c.5429T>C (p.Val1810Ala) c.842T>C n.647T>C c.584T>C (p.Val195Ala) c.5426T>C (p.Val1809Ala) n.1412T>C c.495+1523T>C (n.495+1523T>C) c.5432T>C (p.Val1811Ala) c.50T>C (p.Val17Ala) c.5441T>C (p.Val1814Ala) c.5285T>C (p.Val1762Ala) c.617T>C n.816T>C c.827T>C (p.Val276Ala) n.417T>C c.5627T>C (p.Val1876Ala) c.1481T>C (p.Val494Ala) c.884T>C (p.Val295Ala) | |
| 19 | g.13230187A>T | CA404333752 | CACNA1A | c.5423T>A (p.Val1808Asp) c.5429T>A (p.Val1810Asp) c.842T>A n.647T>A c.584T>A (p.Val195Asp) c.5426T>A (p.Val1809Asp) n.1412T>A c.495+1523T>A (n.495+1523T>A) c.5432T>A (p.Val1811Asp) c.50T>A (p.Val17Asp) c.5441T>A (p.Val1814Asp) c.5285T>A (p.Val1762Asp) c.617T>A n.816T>A c.827T>A (p.Val276Asp) n.417T>A c.5627T>A (p.Val1876Asp) c.1481T>A (p.Val494Asp) c.884T>A (p.Val295Asp) | |
| 19 | g.13230188C>A | CA404333754 | CACNA1A | c.5422G>T (p.Val1808Phe) c.5428G>T (p.Val1810Phe) c.841G>T n.646G>T c.583G>T (p.Val195Phe) c.5425G>T (p.Val1809Phe) n.1411G>T c.495+1522G>T (n.495+1522G>T) c.5431G>T (p.Val1811Phe) c.49G>T (p.Val17Phe) c.5440G>T (p.Val1814Phe) c.5284G>T (p.Val1762Phe) c.616G>T n.815G>T c.826G>T (p.Val276Phe) n.416G>T c.5626G>T (p.Val1876Phe) c.1480G>T (p.Val494Phe) c.883G>T (p.Val295Phe) | |
| 19 | g.13230188C= | CA2323793056 | CACNA1A | c.5422G= (p.Val1808=) c.5428G= (p.Val1810=) c.841G= n.646G= c.583G= (p.Val195=) c.5425G= (p.Val1809=) n.1411G= c.495+1522G= (n.495+1522G=) c.5431G= (p.Val1811=) c.49G= (p.Val17=) c.5440G= (p.Val1814=) c.5284G= (p.Val1762=) c.616G= n.815G= c.826G= (p.Val276=) n.416G= c.5626G= (p.Val1876=) c.1480G= (p.Val494=) c.883G= (p.Val295=) | |
| 19 | g.13230188C>G | CA404333755 | CACNA1A | c.5422G>C (p.Val1808Leu) c.5428G>C (p.Val1810Leu) c.841G>C n.646G>C c.583G>C (p.Val195Leu) c.5425G>C (p.Val1809Leu) n.1411G>C c.495+1522G>C (n.495+1522G>C) c.5431G>C (p.Val1811Leu) c.49G>C (p.Val17Leu) c.5440G>C (p.Val1814Leu) c.5284G>C (p.Val1762Leu) c.616G>C n.815G>C c.826G>C (p.Val276Leu) n.416G>C c.5626G>C (p.Val1876Leu) c.1480G>C (p.Val494Leu) c.883G>C (p.Val295Leu) | |
| 19 | g.13230188C>T | CA404333756 | CACNA1A | c.5422G>A (p.Val1808Ile) c.5428G>A (p.Val1810Ile) c.841G>A n.646G>A c.583G>A (p.Val195Ile) c.5425G>A (p.Val1809Ile) n.1411G>A c.495+1522G>A (n.495+1522G>A) c.5431G>A (p.Val1811Ile) c.49G>A (p.Val17Ile) c.5440G>A (p.Val1814Ile) c.5284G>A (p.Val1762Ile) c.616G>A n.815G>A c.826G>A (p.Val276Ile) n.416G>A c.5626G>A (p.Val1876Ile) c.1480G>A (p.Val494Ile) c.883G>A (p.Val295Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 19 | g.13230189G>A | CA9239733 | CACNA1A | c.5421C>T (p.Ala1807=) c.5427C>T (p.Ala1809=) c.840C>T n.645C>T c.582C>T (p.Ala194=) c.5424C>T (p.Ala1808=) n.1410C>T c.495+1521C>T (n.495+1521C>T) c.5430C>T (p.Ala1810=) c.48C>T (p.Ala16=) c.5439C>T (p.Ala1813=) c.5283C>T (p.Ala1761=) c.615C>T n.814C>T c.825C>T (p.Ala275=) n.415C>T c.5625C>T (p.Ala1875=) c.1479C>T (p.Ala493=) c.882C>T (p.Ala294=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.13230189G>C | CA505657079 | CACNA1A | c.5421C>G (p.Ala1807=) c.5427C>G (p.Ala1809=) c.840C>G n.645C>G c.582C>G (p.Ala194=) c.5424C>G (p.Ala1808=) n.1410C>G c.495+1521C>G (n.495+1521C>G) c.5430C>G (p.Ala1810=) c.48C>G (p.Ala16=) c.5439C>G (p.Ala1813=) c.5283C>G (p.Ala1761=) c.615C>G n.814C>G c.825C>G (p.Ala275=) n.415C>G c.5625C>G (p.Ala1875=) c.1479C>G (p.Ala493=) c.882C>G (p.Ala294=) | gnomAD v4 |
| 19 | g.13230189G= | CA2323793057 | CACNA1A | c.5421C= (p.Ala1807=) c.5427C= (p.Ala1809=) c.840C= n.645C= c.582C= (p.Ala194=) c.5424C= (p.Ala1808=) n.1410C= c.495+1521C= (n.495+1521C=) c.5430C= (p.Ala1810=) c.48C= (p.Ala16=) c.5439C= (p.Ala1813=) c.5283C= (p.Ala1761=) c.615C= n.814C= c.825C= (p.Ala275=) n.415C= c.5625C= (p.Ala1875=) c.1479C= (p.Ala493=) c.882C= (p.Ala294=) | |
| 19 | g.13230189G>T | CA505657080 | CACNA1A | c.5421C>A (p.Ala1807=) c.5427C>A (p.Ala1809=) c.840C>A n.645C>A c.582C>A (p.Ala194=) c.5424C>A (p.Ala1808=) n.1410C>A c.495+1521C>A (n.495+1521C>A) c.5430C>A (p.Ala1810=) c.48C>A (p.Ala16=) c.5439C>A (p.Ala1813=) c.5283C>A (p.Ala1761=) c.615C>A n.814C>A c.825C>A (p.Ala275=) n.415C>A c.5625C>A (p.Ala1875=) c.1479C>A (p.Ala493=) c.882C>A (p.Ala294=) | |
| 19 | g.13230190G>A | CA404333757 | CACNA1A | c.5420C>T (p.Ala1807Val) c.5426C>T (p.Ala1809Val) c.839C>T n.644C>T c.581C>T (p.Ala194Val) c.5423C>T (p.Ala1808Val) n.1409C>T c.495+1520C>T (n.495+1520C>T) c.5429C>T (p.Ala1810Val) c.47C>T (p.Ala16Val) c.5438C>T (p.Ala1813Val) c.5282C>T (p.Ala1761Val) c.614C>T n.813C>T c.824C>T (p.Ala275Val) n.414C>T c.5624C>T (p.Ala1875Val) c.1478C>T (p.Ala493Val) c.881C>T (p.Ala294Val) | COSMIC COSMIC COSMIC COSMIC |
| 19 | g.13230190G>C | CA404333758 | CACNA1A | c.5420C>G (p.Ala1807Gly) c.5426C>G (p.Ala1809Gly) c.839C>G n.644C>G c.581C>G (p.Ala194Gly) c.5423C>G (p.Ala1808Gly) n.1409C>G c.495+1520C>G (n.495+1520C>G) c.5429C>G (p.Ala1810Gly) c.47C>G (p.Ala16Gly) c.5438C>G (p.Ala1813Gly) c.5282C>G (p.Ala1761Gly) c.614C>G n.813C>G c.824C>G (p.Ala275Gly) n.414C>G c.5624C>G (p.Ala1875Gly) c.1478C>G (p.Ala493Gly) c.881C>G (p.Ala294Gly) | |
| 19 | g.13230190G>T | CA404333759 | CACNA1A | c.5420C>A (p.Ala1807Asp) c.5426C>A (p.Ala1809Asp) c.839C>A n.644C>A c.581C>A (p.Ala194Asp) c.5423C>A (p.Ala1808Asp) n.1409C>A c.495+1520C>A (n.495+1520C>A) c.5429C>A (p.Ala1810Asp) c.47C>A (p.Ala16Asp) c.5438C>A (p.Ala1813Asp) c.5282C>A (p.Ala1761Asp) c.614C>A n.813C>A c.824C>A (p.Ala275Asp) n.414C>A c.5624C>A (p.Ala1875Asp) c.1478C>A (p.Ala493Asp) c.881C>A (p.Ala294Asp) | |
| 19 | g.13230191C>A | CA404333760 | CACNA1A | c.5419G>T (p.Ala1807Ser) c.5425G>T (p.Ala1809Ser) c.838G>T n.643G>T c.580G>T (p.Ala194Ser) c.5422G>T (p.Ala1808Ser) n.1408G>T c.495+1519G>T (n.495+1519G>T) c.5428G>T (p.Ala1810Ser) c.46G>T (p.Ala16Ser) c.5437G>T (p.Ala1813Ser) c.5281G>T (p.Ala1761Ser) c.613G>T n.812G>T c.823G>T (p.Ala275Ser) n.413G>T c.5623G>T (p.Ala1875Ser) c.1477G>T (p.Ala493Ser) c.880G>T (p.Ala294Ser) | ClinVar dbSNP |
| 19 | g.13230191C= | CA2323793058 | CACNA1A | c.5419G= (p.Ala1807=) c.5425G= (p.Ala1809=) c.838G= n.643G= c.580G= (p.Ala194=) c.5422G= (p.Ala1808=) n.1408G= c.495+1519G= (n.495+1519G=) c.5428G= (p.Ala1810=) c.46G= (p.Ala16=) c.5437G= (p.Ala1813=) c.5281G= (p.Ala1761=) c.613G= n.812G= c.823G= (p.Ala275=) n.413G= c.5623G= (p.Ala1875=) c.1477G= (p.Ala493=) c.880G= (p.Ala294=) | |
| 19 | g.13230191C>G | CA404333761 | CACNA1A | c.5419G>C (p.Ala1807Pro) c.5425G>C (p.Ala1809Pro) c.838G>C n.643G>C c.580G>C (p.Ala194Pro) c.5422G>C (p.Ala1808Pro) n.1408G>C c.495+1519G>C (n.495+1519G>C) c.5428G>C (p.Ala1810Pro) c.46G>C (p.Ala16Pro) c.5437G>C (p.Ala1813Pro) c.5281G>C (p.Ala1761Pro) c.613G>C n.812G>C c.823G>C (p.Ala275Pro) n.413G>C c.5623G>C (p.Ala1875Pro) c.1477G>C (p.Ala493Pro) c.880G>C (p.Ala294Pro) | |
| 19 | g.13230191C>T | CA404333762 | CACNA1A | c.5419G>A (p.Ala1807Thr) c.5425G>A (p.Ala1809Thr) c.838G>A n.643G>A c.580G>A (p.Ala194Thr) c.5422G>A (p.Ala1808Thr) n.1408G>A c.495+1519G>A (n.495+1519G>A) c.5428G>A (p.Ala1810Thr) c.46G>A (p.Ala16Thr) c.5437G>A (p.Ala1813Thr) c.5281G>A (p.Ala1761Thr) c.613G>A n.812G>A c.823G>A (p.Ala275Thr) n.413G>A c.5623G>A (p.Ala1875Thr) c.1477G>A (p.Ala493Thr) c.880G>A (p.Ala294Thr) | ClinVar dbSNP |
| 19 | g.13230192G>A | CA9239734 | CACNA1A | c.5418C>T (p.Val1806=) c.5424C>T (p.Val1808=) c.837C>T n.642C>T c.579C>T (p.Val193=) c.5421C>T (p.Val1807=) n.1407C>T c.495+1518C>T (n.495+1518C>T) c.5427C>T (p.Val1809=) c.45C>T (p.Val15=) c.5436C>T (p.Val1812=) c.5280C>T (p.Val1760=) c.612C>T n.811C>T c.822C>T (p.Val274=) n.412C>T c.5622C>T (p.Val1874=) c.1476C>T (p.Val492=) c.879C>T (p.Val293=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13230192G>C | CA505657081 | CACNA1A | c.5418C>G (p.Val1806=) c.5424C>G (p.Val1808=) c.837C>G n.642C>G c.579C>G (p.Val193=) c.5421C>G (p.Val1807=) n.1407C>G c.495+1518C>G (n.495+1518C>G) c.5427C>G (p.Val1809=) c.45C>G (p.Val15=) c.5436C>G (p.Val1812=) c.5280C>G (p.Val1760=) c.612C>G n.811C>G c.822C>G (p.Val274=) n.412C>G c.5622C>G (p.Val1874=) c.1476C>G (p.Val492=) c.879C>G (p.Val293=) | |
| 19 | g.13230192G= | CA2323793059 | CACNA1A | c.5418C= (p.Val1806=) c.5424C= (p.Val1808=) c.837C= n.642C= c.579C= (p.Val193=) c.5421C= (p.Val1807=) n.1407C= c.495+1518C= (n.495+1518C=) c.5427C= (p.Val1809=) c.45C= (p.Val15=) c.5436C= (p.Val1812=) c.5280C= (p.Val1760=) c.612C= n.811C= c.822C= (p.Val274=) n.412C= c.5622C= (p.Val1874=) c.1476C= (p.Val492=) c.879C= (p.Val293=) | |
| 19 | g.13230192G>T | CA505657082 | CACNA1A | c.5418C>A (p.Val1806=) c.5424C>A (p.Val1808=) c.837C>A n.642C>A c.579C>A (p.Val193=) c.5421C>A (p.Val1807=) n.1407C>A c.495+1518C>A (n.495+1518C>A) c.5427C>A (p.Val1809=) c.45C>A (p.Val15=) c.5436C>A (p.Val1812=) c.5280C>A (p.Val1760=) c.612C>A n.811C>A c.822C>A (p.Val274=) n.412C>A c.5622C>A (p.Val1874=) c.1476C>A (p.Val492=) c.879C>A (p.Val293=) | |
| 19 | g.13230193A>C | CA404333765 | CACNA1A | c.5417T>G (p.Val1806Gly) c.5423T>G (p.Val1808Gly) c.836T>G n.641T>G c.578T>G (p.Val193Gly) c.5420T>G (p.Val1807Gly) n.1406T>G c.495+1517T>G (n.495+1517T>G) c.5426T>G (p.Val1809Gly) c.44T>G (p.Val15Gly) c.5435T>G (p.Val1812Gly) c.5279T>G (p.Val1760Gly) c.611T>G n.810T>G c.821T>G (p.Val274Gly) n.411T>G c.5621T>G (p.Val1874Gly) c.1475T>G (p.Val492Gly) c.878T>G (p.Val293Gly) | |
| 19 | g.13230193A>G | CA404333764 | CACNA1A | c.5417T>C (p.Val1806Ala) c.5423T>C (p.Val1808Ala) c.836T>C n.641T>C c.578T>C (p.Val193Ala) c.5420T>C (p.Val1807Ala) n.1406T>C c.495+1517T>C (n.495+1517T>C) c.5426T>C (p.Val1809Ala) c.44T>C (p.Val15Ala) c.5435T>C (p.Val1812Ala) c.5279T>C (p.Val1760Ala) c.611T>C n.810T>C c.821T>C (p.Val274Ala) n.411T>C c.5621T>C (p.Val1874Ala) c.1475T>C (p.Val492Ala) c.878T>C (p.Val293Ala) | ClinVar dbSNP |
| 19 | g.13230193A>T | CA404333763 | CACNA1A | c.5417T>A (p.Val1806Asp) c.5423T>A (p.Val1808Asp) c.836T>A n.641T>A c.578T>A (p.Val193Asp) c.5420T>A (p.Val1807Asp) n.1406T>A c.495+1517T>A (n.495+1517T>A) c.5426T>A (p.Val1809Asp) c.44T>A (p.Val15Asp) c.5435T>A (p.Val1812Asp) c.5279T>A (p.Val1760Asp) c.611T>A n.810T>A c.821T>A (p.Val274Asp) n.411T>A c.5621T>A (p.Val1874Asp) c.1475T>A (p.Val492Asp) c.878T>A (p.Val293Asp) | |
| 19 | g.13230194C>A | CA404333766 | CACNA1A | c.5416G>T (p.Val1806Phe) c.5422G>T (p.Val1808Phe) c.835G>T n.640G>T c.577G>T (p.Val193Phe) c.5419G>T (p.Val1807Phe) n.1405G>T c.495+1516G>T (n.495+1516G>T) c.5425G>T (p.Val1809Phe) c.43G>T (p.Val15Phe) c.5434G>T (p.Val1812Phe) c.5278G>T (p.Val1760Phe) c.610G>T n.809G>T c.820G>T (p.Val274Phe) n.410G>T c.5620G>T (p.Val1874Phe) c.1474G>T (p.Val492Phe) c.877G>T (p.Val293Phe) | |
| 19 | g.13230194C>G | CA404333770 | CACNA1A | c.5416G>C (p.Val1806Leu) c.5422G>C (p.Val1808Leu) c.835G>C n.640G>C c.577G>C (p.Val193Leu) c.5419G>C (p.Val1807Leu) n.1405G>C c.495+1516G>C (n.495+1516G>C) c.5425G>C (p.Val1809Leu) c.43G>C (p.Val15Leu) c.5434G>C (p.Val1812Leu) c.5278G>C (p.Val1760Leu) c.610G>C n.809G>C c.820G>C (p.Val274Leu) n.410G>C c.5620G>C (p.Val1874Leu) c.1474G>C (p.Val492Leu) c.877G>C (p.Val293Leu) | |
| 19 | g.13230194C>T | CA404333768 | CACNA1A | c.5416G>A (p.Val1806Ile) c.5422G>A (p.Val1808Ile) c.835G>A n.640G>A c.577G>A (p.Val193Ile) c.5419G>A (p.Val1807Ile) n.1405G>A c.495+1516G>A (n.495+1516G>A) c.5425G>A (p.Val1809Ile) c.43G>A (p.Val15Ile) c.5434G>A (p.Val1812Ile) c.5278G>A (p.Val1760Ile) c.610G>A n.809G>A c.820G>A (p.Val274Ile) n.410G>A c.5620G>A (p.Val1874Ile) c.1474G>A (p.Val492Ile) c.877G>A (p.Val293Ile) | ClinVar gnomAD v4 |
| 19 | g.13230195A= | CA2323793060 | CACNA1A | c.5415T= (p.Phe1805=) c.5421T= (p.Phe1807=) c.834T= n.639T= c.576T= (p.Phe192=) c.5418T= (p.Phe1806=) n.1404T= c.495+1515T= (n.495+1515T=) c.5424T= (p.Phe1808=) c.42T= (p.Phe14=) c.5433T= (p.Phe1811=) c.5277T= (p.Phe1759=) c.609T= n.808T= c.819T= (p.Phe273=) n.409T= c.5619T= (p.Phe1873=) c.1473T= (p.Phe491=) c.876T= (p.Phe292=) | |
| 19 | g.13230195A>C | CA404333773 | CACNA1A | c.5415T>G (p.Phe1805Leu) c.5421T>G (p.Phe1807Leu) c.834T>G n.639T>G c.576T>G (p.Phe192Leu) c.5418T>G (p.Phe1806Leu) n.1404T>G c.495+1515T>G (n.495+1515T>G) c.5424T>G (p.Phe1808Leu) c.42T>G (p.Phe14Leu) c.5433T>G (p.Phe1811Leu) c.5277T>G (p.Phe1759Leu) c.609T>G n.808T>G c.819T>G (p.Phe273Leu) n.409T>G c.5619T>G (p.Phe1873Leu) c.1473T>G (p.Phe491Leu) c.876T>G (p.Phe292Leu) | |
| 19 | g.13230195A>G | CA16608060 | CACNA1A | c.5415T>C (p.Phe1805=) c.5421T>C (p.Phe1807=) c.834T>C n.639T>C c.576T>C (p.Phe192=) c.5418T>C (p.Phe1806=) n.1404T>C c.495+1515T>C (n.495+1515T>C) c.5424T>C (p.Phe1808=) c.42T>C (p.Phe14=) c.5433T>C (p.Phe1811=) c.5277T>C (p.Phe1759=) c.609T>C n.808T>C c.819T>C (p.Phe273=) n.409T>C c.5619T>C (p.Phe1873=) c.1473T>C (p.Phe491=) c.876T>C (p.Phe292=) | ClinVar dbSNP |
| 19 | g.13230195A>T | CA404333776 | CACNA1A | c.5415T>A (p.Phe1805Leu) c.5421T>A (p.Phe1807Leu) c.834T>A n.639T>A c.576T>A (p.Phe192Leu) c.5418T>A (p.Phe1806Leu) n.1404T>A c.495+1515T>A (n.495+1515T>A) c.5424T>A (p.Phe1808Leu) c.42T>A (p.Phe14Leu) c.5433T>A (p.Phe1811Leu) c.5277T>A (p.Phe1759Leu) c.609T>A n.808T>A c.819T>A (p.Phe273Leu) n.409T>A c.5619T>A (p.Phe1873Leu) c.1473T>A (p.Phe491Leu) c.876T>A (p.Phe292Leu) | |
| 19 | g.13230196_13230197del | CA2582818200 | CACNA1A | c.5414_5415del (p.Phe1805CysfsTer9) c.5420_5421del (p.Phe1807CysfsTer9) c.833_834del n.638_639del c.575_576del (p.Phe192CysfsTer9) c.5417_5418del (p.Phe1806CysfsTer9) n.1403_1404del c.495+1514_495+1515del (n.495+1514_495+1515del) c.5423_5424del (p.Phe1808CysfsTer9) c.41_42del (p.Phe14CysfsTer9) c.5432_5433del (p.Phe1811CysfsTer9) c.5276_5277del (p.Phe1759CysfsTer9) c.608_609del n.807_808del c.818_819del (p.Phe273CysfsTer9) n.408_409del c.5618_5619del (p.Phe1873CysfsTer9) c.1472_1473del (p.Phe491CysfsTer9) c.875_876del (p.Phe292CysfsTer9) | gnomAD v4 |
| 19 | g.13230196A>C | CA404333780 | CACNA1A | c.5414T>G (p.Phe1805Cys) c.5420T>G (p.Phe1807Cys) c.833T>G n.638T>G c.575T>G (p.Phe192Cys) c.5417T>G (p.Phe1806Cys) n.1403T>G c.495+1514T>G (n.495+1514T>G) c.5423T>G (p.Phe1808Cys) c.41T>G (p.Phe14Cys) c.5432T>G (p.Phe1811Cys) c.5276T>G (p.Phe1759Cys) c.608T>G n.807T>G c.818T>G (p.Phe273Cys) n.408T>G c.5618T>G (p.Phe1873Cys) c.1472T>G (p.Phe491Cys) c.875T>G (p.Phe292Cys) | |
| 19 | g.13230196A>G | CA404333782 | CACNA1A | c.5414T>C (p.Phe1805Ser) c.5420T>C (p.Phe1807Ser) c.833T>C n.638T>C c.575T>C (p.Phe192Ser) c.5417T>C (p.Phe1806Ser) n.1403T>C c.495+1514T>C (n.495+1514T>C) c.5423T>C (p.Phe1808Ser) c.41T>C (p.Phe14Ser) c.5432T>C (p.Phe1811Ser) c.5276T>C (p.Phe1759Ser) c.608T>C n.807T>C c.818T>C (p.Phe273Ser) n.408T>C c.5618T>C (p.Phe1873Ser) c.1472T>C (p.Phe491Ser) c.875T>C (p.Phe292Ser) | |
| 19 | g.13230196A>T | CA404333784 | CACNA1A | c.5414T>A (p.Phe1805Tyr) c.5420T>A (p.Phe1807Tyr) c.833T>A n.638T>A c.575T>A (p.Phe192Tyr) c.5417T>A (p.Phe1806Tyr) n.1403T>A c.495+1514T>A (n.495+1514T>A) c.5423T>A (p.Phe1808Tyr) c.41T>A (p.Phe14Tyr) c.5432T>A (p.Phe1811Tyr) c.5276T>A (p.Phe1759Tyr) c.608T>A n.807T>A c.818T>A (p.Phe273Tyr) n.408T>A c.5618T>A (p.Phe1873Tyr) c.1472T>A (p.Phe491Tyr) c.875T>A (p.Phe292Tyr) | |
| 19 | g.13230197A>C | CA404333787 | CACNA1A | c.5413T>G (p.Phe1805Val) c.5419T>G (p.Phe1807Val) c.832T>G n.637T>G c.574T>G (p.Phe192Val) c.5416T>G (p.Phe1806Val) n.1402T>G c.495+1513T>G (n.495+1513T>G) c.5422T>G (p.Phe1808Val) c.40T>G (p.Phe14Val) c.5431T>G (p.Phe1811Val) c.5275T>G (p.Phe1759Val) c.607T>G n.806T>G c.817T>G (p.Phe273Val) n.407T>G c.5617T>G (p.Phe1873Val) c.1471T>G (p.Phe491Val) c.874T>G (p.Phe292Val) | |
| 19 | g.13230197A>G | CA404333788 | CACNA1A | c.5413T>C (p.Phe1805Leu) c.5419T>C (p.Phe1807Leu) c.832T>C n.637T>C c.574T>C (p.Phe192Leu) c.5416T>C (p.Phe1806Leu) n.1402T>C c.495+1513T>C (n.495+1513T>C) c.5422T>C (p.Phe1808Leu) c.40T>C (p.Phe14Leu) c.5431T>C (p.Phe1811Leu) c.5275T>C (p.Phe1759Leu) c.607T>C n.806T>C c.817T>C (p.Phe273Leu) n.407T>C c.5617T>C (p.Phe1873Leu) c.1471T>C (p.Phe491Leu) c.874T>C (p.Phe292Leu) | |
| 19 | g.13230197A>T | CA404333789 | CACNA1A | c.5413T>A (p.Phe1805Ile) c.5419T>A (p.Phe1807Ile) c.832T>A n.637T>A c.574T>A (p.Phe192Ile) c.5416T>A (p.Phe1806Ile) n.1402T>A c.495+1513T>A (n.495+1513T>A) c.5422T>A (p.Phe1808Ile) c.40T>A (p.Phe14Ile) c.5431T>A (p.Phe1811Ile) c.5275T>A (p.Phe1759Ile) c.607T>A n.806T>A c.817T>A (p.Phe273Ile) n.407T>A c.5617T>A (p.Phe1873Ile) c.1471T>A (p.Phe491Ile) c.874T>A (p.Phe292Ile) | |
| 19 | g.13230198G>A | CA9239735 | CACNA1A | c.5412C>T (p.Leu1804=) c.5418C>T (p.Leu1806=) c.831C>T n.636C>T c.573C>T (p.Leu191=) c.5415C>T (p.Leu1805=) n.1401C>T c.495+1512C>T (n.495+1512C>T) c.5421C>T (p.Leu1807=) c.39C>T (p.Leu13=) c.5430C>T (p.Leu1810=) c.5274C>T (p.Leu1758=) c.606C>T n.805C>T c.816C>T (p.Leu272=) n.406C>T c.5616C>T (p.Leu1872=) c.1470C>T (p.Leu490=) c.873C>T (p.Leu291=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13230198G>C | CA505657084 | CACNA1A | c.5412C>G (p.Leu1804=) c.5418C>G (p.Leu1806=) c.831C>G n.636C>G c.573C>G (p.Leu191=) c.5415C>G (p.Leu1805=) n.1401C>G c.495+1512C>G (n.495+1512C>G) c.5421C>G (p.Leu1807=) c.39C>G (p.Leu13=) c.5430C>G (p.Leu1810=) c.5274C>G (p.Leu1758=) c.606C>G n.805C>G c.816C>G (p.Leu272=) n.406C>G c.5616C>G (p.Leu1872=) c.1470C>G (p.Leu490=) c.873C>G (p.Leu291=) | dbSNP gnomAD v2 |
| 19 | g.13230198G= | CA2323793061 | CACNA1A | c.5412C= (p.Leu1804=) c.5418C= (p.Leu1806=) c.831C= n.636C= c.573C= (p.Leu191=) c.5415C= (p.Leu1805=) n.1401C= c.495+1512C= (n.495+1512C=) c.5421C= (p.Leu1807=) c.39C= (p.Leu13=) c.5430C= (p.Leu1810=) c.5274C= (p.Leu1758=) c.606C= n.805C= c.816C= (p.Leu272=) n.406C= c.5616C= (p.Leu1872=) c.1470C= (p.Leu490=) c.873C= (p.Leu291=) | |
| 19 | g.13230198G>T | CA505657086 | CACNA1A | c.5412C>A (p.Leu1804=) c.5418C>A (p.Leu1806=) c.831C>A n.636C>A c.573C>A (p.Leu191=) c.5415C>A (p.Leu1805=) n.1401C>A c.495+1512C>A (n.495+1512C>A) c.5421C>A (p.Leu1807=) c.39C>A (p.Leu13=) c.5430C>A (p.Leu1810=) c.5274C>A (p.Leu1758=) c.606C>A n.805C>A c.816C>A (p.Leu272=) n.406C>A c.5616C>A (p.Leu1872=) c.1470C>A (p.Leu490=) c.873C>A (p.Leu291=) |