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.13235693C>A | CA404336958 | CACNA1A | c.4988G>T (p.Arg1663Leu) c.4994G>T (p.Arg1665Leu) c.407G>T n.212G>T c.149G>T (p.Arg50Leu) n.193G>T c.4991G>T (p.Arg1664Leu) n.977G>T c.303G>T c.4997G>T (p.Arg1666Leu) c.284G>T (p.Arg95Leu) c.5006G>T (p.Arg1669Leu) c.4850G>T (p.Arg1617Leu) c.248G>T n.381G>T c.392G>T (p.Arg131Leu) c.5192G>T (p.Arg1731Leu) c.1046G>T (p.Arg349Leu) c.449G>T (p.Arg150Leu) | |
| 19 | g.13235693C= | CA2323795783 | CACNA1A | c.4988G= (p.Arg1663=) c.4994G= (p.Arg1665=) c.407G= n.212G= c.149G= (p.Arg50=) n.193G= c.4991G= (p.Arg1664=) n.977G= c.303G= c.4997G= (p.Arg1666=) c.284G= (p.Arg95=) c.5006G= (p.Arg1669=) c.4850G= (p.Arg1617=) c.248G= n.381G= c.392G= (p.Arg131=) c.5192G= (p.Arg1731=) c.1046G= (p.Arg349=) c.449G= (p.Arg150=) | |
| 19 | g.13235693C>G | CA404336959 | CACNA1A | c.4988G>C (p.Arg1663Pro) c.4994G>C (p.Arg1665Pro) c.407G>C n.212G>C c.149G>C (p.Arg50Pro) n.193G>C c.4991G>C (p.Arg1664Pro) n.977G>C c.303G>C c.4997G>C (p.Arg1666Pro) c.284G>C (p.Arg95Pro) c.5006G>C (p.Arg1669Pro) c.4850G>C (p.Arg1617Pro) c.248G>C n.381G>C c.392G>C (p.Arg131Pro) c.5192G>C (p.Arg1731Pro) c.1046G>C (p.Arg349Pro) c.449G>C (p.Arg150Pro) | gnomAD v4 |
| 19 | g.13235693C>T | CA185906 | CACNA1A | c.4988G>A (p.Arg1663Gln) c.4994G>A (p.Arg1665Gln) c.407G>A n.212G>A c.149G>A (p.Arg50Gln) n.193G>A c.4991G>A (p.Arg1664Gln) n.977G>A c.303G>A c.4997G>A (p.Arg1666Gln) c.284G>A (p.Arg95Gln) c.5006G>A (p.Arg1669Gln) c.4850G>A (p.Arg1617Gln) c.248G>A n.381G>A c.392G>A (p.Arg131Gln) c.5192G>A (p.Arg1731Gln) c.1046G>A (p.Arg349Gln) c.449G>A (p.Arg150Gln) | ClinVar dbSNP |
| 19 | g.13235694G>A | CA404336960 | CACNA1A | c.4987C>T (p.Arg1663Ter) c.4993C>T (p.Arg1665Ter) c.406C>T n.211C>T c.148C>T (p.Arg50Ter) n.192C>T c.4990C>T (p.Arg1664Ter) n.976C>T c.302C>T c.4996C>T (p.Arg1666Ter) c.283C>T (p.Arg95Ter) c.5005C>T (p.Arg1669Ter) c.4849C>T (p.Arg1617Ter) c.247C>T n.380C>T c.391C>T (p.Arg131Ter) c.5191C>T (p.Arg1731Ter) c.1045C>T (p.Arg349Ter) c.448C>T (p.Arg150Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
| 19 | g.13235694G>C | CA404336962 | CACNA1A | c.4987C>G (p.Arg1663Gly) c.4993C>G (p.Arg1665Gly) c.406C>G n.211C>G c.148C>G (p.Arg50Gly) n.192C>G c.4990C>G (p.Arg1664Gly) n.976C>G c.302C>G c.4996C>G (p.Arg1666Gly) c.283C>G (p.Arg95Gly) c.5005C>G (p.Arg1669Gly) c.4849C>G (p.Arg1617Gly) c.247C>G n.380C>G c.391C>G (p.Arg131Gly) c.5191C>G (p.Arg1731Gly) c.1045C>G (p.Arg349Gly) c.448C>G (p.Arg150Gly) | |
| 19 | g.13235694G= | CA2323795784 | CACNA1A | c.4987C= (p.Arg1663=) c.4993C= (p.Arg1665=) c.406C= n.211C= c.148C= (p.Arg50=) n.192C= c.4990C= (p.Arg1664=) n.976C= c.302C= c.4996C= (p.Arg1666=) c.283C= (p.Arg95=) c.5005C= (p.Arg1669=) c.4849C= (p.Arg1617=) c.247C= n.380C= c.391C= (p.Arg131=) c.5191C= (p.Arg1731=) c.1045C= (p.Arg349=) c.448C= (p.Arg150=) | |
| 19 | g.13235694G>T | CA505658808 | CACNA1A | c.4987C>A (p.Arg1663=) c.4993C>A (p.Arg1665=) c.406C>A n.211C>A c.148C>A (p.Arg50=) n.192C>A c.4990C>A (p.Arg1664=) n.976C>A c.302C>A c.4996C>A (p.Arg1666=) c.283C>A (p.Arg95=) c.5005C>A (p.Arg1669=) c.4849C>A (p.Arg1617=) c.247C>A n.380C>A c.391C>A (p.Arg131=) c.5191C>A (p.Arg1731=) c.1045C>A (p.Arg349=) c.448C>A (p.Arg150=) | |
| 19 | g.13235695G>A | CA505658809 | CACNA1A | c.4986C>T (p.Phe1662=) c.4992C>T (p.Phe1664=) c.405C>T n.210C>T c.147C>T (p.Phe49=) n.191C>T c.4989C>T (p.Phe1663=) n.975C>T c.301C>T c.4995C>T (p.Phe1665=) c.282C>T (p.Phe94=) c.5004C>T (p.Phe1668=) c.4848C>T (p.Phe1616=) c.246C>T n.379C>T c.390C>T (p.Phe130=) c.5190C>T (p.Phe1730=) c.1044C>T (p.Phe348=) c.447C>T (p.Phe149=) | |
| 19 | g.13235695G>C | CA404336963 | CACNA1A | c.4986C>G (p.Phe1662Leu) c.4992C>G (p.Phe1664Leu) c.405C>G n.210C>G c.147C>G (p.Phe49Leu) n.191C>G c.4989C>G (p.Phe1663Leu) n.975C>G c.301C>G c.4995C>G (p.Phe1665Leu) c.282C>G (p.Phe94Leu) c.5004C>G (p.Phe1668Leu) c.4848C>G (p.Phe1616Leu) c.246C>G n.379C>G c.390C>G (p.Phe130Leu) c.5190C>G (p.Phe1730Leu) c.1044C>G (p.Phe348Leu) c.447C>G (p.Phe149Leu) | |
| 19 | g.13235695G>T | CA404336965 | CACNA1A | c.4986C>A (p.Phe1662Leu) c.4992C>A (p.Phe1664Leu) c.405C>A n.210C>A c.147C>A (p.Phe49Leu) n.191C>A c.4989C>A (p.Phe1663Leu) n.975C>A c.301C>A c.4995C>A (p.Phe1665Leu) c.282C>A (p.Phe94Leu) c.5004C>A (p.Phe1668Leu) c.4848C>A (p.Phe1616Leu) c.246C>A n.379C>A c.390C>A (p.Phe130Leu) c.5190C>A (p.Phe1730Leu) c.1044C>A (p.Phe348Leu) c.447C>A (p.Phe149Leu) | |
| 19 | g.13235696A>C | CA404336969 | CACNA1A | c.4985T>G (p.Phe1662Cys) c.4991T>G (p.Phe1664Cys) c.404T>G n.209T>G c.146T>G (p.Phe49Cys) n.190T>G c.4988T>G (p.Phe1663Cys) n.974T>G c.300T>G c.4994T>G (p.Phe1665Cys) c.281T>G (p.Phe94Cys) c.5003T>G (p.Phe1668Cys) c.4847T>G (p.Phe1616Cys) c.245T>G n.378T>G c.389T>G (p.Phe130Cys) c.5189T>G (p.Phe1730Cys) c.1043T>G (p.Phe348Cys) c.446T>G (p.Phe149Cys) | |
| 19 | g.13235696A>G | CA404336971 | CACNA1A | c.4985T>C (p.Phe1662Ser) c.4991T>C (p.Phe1664Ser) c.404T>C n.209T>C c.146T>C (p.Phe49Ser) n.190T>C c.4988T>C (p.Phe1663Ser) n.974T>C c.300T>C c.4994T>C (p.Phe1665Ser) c.281T>C (p.Phe94Ser) c.5003T>C (p.Phe1668Ser) c.4847T>C (p.Phe1616Ser) c.245T>C n.378T>C c.389T>C (p.Phe130Ser) c.5189T>C (p.Phe1730Ser) c.1043T>C (p.Phe348Ser) c.446T>C (p.Phe149Ser) | |
| 19 | g.13235696A>T | CA404336973 | CACNA1A | c.4985T>A (p.Phe1662Tyr) c.4991T>A (p.Phe1664Tyr) c.404T>A n.209T>A c.146T>A (p.Phe49Tyr) n.190T>A c.4988T>A (p.Phe1663Tyr) n.974T>A c.300T>A c.4994T>A (p.Phe1665Tyr) c.281T>A (p.Phe94Tyr) c.5003T>A (p.Phe1668Tyr) c.4847T>A (p.Phe1616Tyr) c.245T>A n.378T>A c.389T>A (p.Phe130Tyr) c.5189T>A (p.Phe1730Tyr) c.1043T>A (p.Phe348Tyr) c.446T>A (p.Phe149Tyr) | |
| 19 | g.13235697A>C | CA404336977 | CACNA1A | c.4984T>G (p.Phe1662Val) c.4990T>G (p.Phe1664Val) c.403T>G n.208T>G c.145T>G (p.Phe49Val) n.189T>G c.4987T>G (p.Phe1663Val) n.973T>G c.299T>G c.4993T>G (p.Phe1665Val) c.280T>G (p.Phe94Val) c.5002T>G (p.Phe1668Val) c.4846T>G (p.Phe1616Val) c.244T>G n.377T>G c.388T>G (p.Phe130Val) c.5188T>G (p.Phe1730Val) c.1042T>G (p.Phe348Val) c.445T>G (p.Phe149Val) | |
| 19 | g.13235697A>G | CA404336979 | CACNA1A | c.4984T>C (p.Phe1662Leu) c.4990T>C (p.Phe1664Leu) c.403T>C n.208T>C c.145T>C (p.Phe49Leu) n.189T>C c.4987T>C (p.Phe1663Leu) n.973T>C c.299T>C c.4993T>C (p.Phe1665Leu) c.280T>C (p.Phe94Leu) c.5002T>C (p.Phe1668Leu) c.4846T>C (p.Phe1616Leu) c.244T>C n.377T>C c.388T>C (p.Phe130Leu) c.5188T>C (p.Phe1730Leu) c.1042T>C (p.Phe348Leu) c.445T>C (p.Phe149Leu) | |
| 19 | g.13235697A>T | CA404336981 | CACNA1A | c.4984T>A (p.Phe1662Ile) c.4990T>A (p.Phe1664Ile) c.403T>A n.208T>A c.145T>A (p.Phe49Ile) n.189T>A c.4987T>A (p.Phe1663Ile) n.973T>A c.299T>A c.4993T>A (p.Phe1665Ile) c.280T>A (p.Phe94Ile) c.5002T>A (p.Phe1668Ile) c.4846T>A (p.Phe1616Ile) c.244T>A n.377T>A c.388T>A (p.Phe130Ile) c.5188T>A (p.Phe1730Ile) c.1042T>A (p.Phe348Ile) c.445T>A (p.Phe149Ile) | |
| 19 | g.13235698G>A | CA505658810 | CACNA1A | c.4983C>T (p.Leu1661=) c.4989C>T (p.Leu1663=) c.402C>T n.207C>T c.144C>T (p.Leu48=) n.188C>T c.4986C>T (p.Leu1662=) n.972C>T c.298C>T c.4992C>T (p.Leu1664=) c.279C>T (p.Leu93=) c.5001C>T (p.Leu1667=) c.4845C>T (p.Leu1615=) c.243C>T n.376C>T c.387C>T (p.Leu129=) c.5187C>T (p.Leu1729=) c.1041C>T (p.Leu347=) c.444C>T (p.Leu148=) | |
| 19 | g.13235698G>C | CA505658811 | CACNA1A | c.4983C>G (p.Leu1661=) c.4989C>G (p.Leu1663=) c.402C>G n.207C>G c.144C>G (p.Leu48=) n.188C>G c.4986C>G (p.Leu1662=) n.972C>G c.298C>G c.4992C>G (p.Leu1664=) c.279C>G (p.Leu93=) c.5001C>G (p.Leu1667=) c.4845C>G (p.Leu1615=) c.243C>G n.376C>G c.387C>G (p.Leu129=) c.5187C>G (p.Leu1729=) c.1041C>G (p.Leu347=) c.444C>G (p.Leu148=) | |
| 19 | g.13235698G>T | CA505658812 | CACNA1A | c.4983C>A (p.Leu1661=) c.4989C>A (p.Leu1663=) c.402C>A n.207C>A c.144C>A (p.Leu48=) n.188C>A c.4986C>A (p.Leu1662=) n.972C>A c.298C>A c.4992C>A (p.Leu1664=) c.279C>A (p.Leu93=) c.5001C>A (p.Leu1667=) c.4845C>A (p.Leu1615=) c.243C>A n.376C>A c.387C>A (p.Leu129=) c.5187C>A (p.Leu1729=) c.1041C>A (p.Leu347=) c.444C>A (p.Leu148=) | |
| 19 | g.13235699A>C | CA404336984 | CACNA1A | c.4982T>G (p.Leu1661Arg) c.4988T>G (p.Leu1663Arg) c.401T>G n.206T>G c.143T>G (p.Leu48Arg) n.187T>G c.4985T>G (p.Leu1662Arg) n.971T>G c.297T>G c.4991T>G (p.Leu1664Arg) c.278T>G (p.Leu93Arg) c.5000T>G (p.Leu1667Arg) c.4844T>G (p.Leu1615Arg) c.242T>G n.375T>G c.386T>G (p.Leu129Arg) c.5186T>G (p.Leu1729Arg) c.1040T>G (p.Leu347Arg) c.443T>G (p.Leu148Arg) | COSMIC COSMIC COSMIC COSMIC |
| 19 | g.13235699A>G | CA404336989 | CACNA1A | c.4982T>C (p.Leu1661Pro) c.4988T>C (p.Leu1663Pro) c.401T>C n.206T>C c.143T>C (p.Leu48Pro) n.187T>C c.4985T>C (p.Leu1662Pro) n.971T>C c.297T>C c.4991T>C (p.Leu1664Pro) c.278T>C (p.Leu93Pro) c.5000T>C (p.Leu1667Pro) c.4844T>C (p.Leu1615Pro) c.242T>C n.375T>C c.386T>C (p.Leu129Pro) c.5186T>C (p.Leu1729Pro) c.1040T>C (p.Leu347Pro) c.443T>C (p.Leu148Pro) | |
| 19 | g.13235699A>T | CA404336985 | CACNA1A | c.4982T>A (p.Leu1661His) c.4988T>A (p.Leu1663His) c.401T>A n.206T>A c.143T>A (p.Leu48His) n.187T>A c.4985T>A (p.Leu1662His) n.971T>A c.297T>A c.4991T>A (p.Leu1664His) c.278T>A (p.Leu93His) c.5000T>A (p.Leu1667His) c.4844T>A (p.Leu1615His) c.242T>A n.375T>A c.386T>A (p.Leu129His) c.5186T>A (p.Leu1729His) c.1040T>A (p.Leu347His) c.443T>A (p.Leu148His) | |
| 19 | g.13235700G>A | CA404336992 | CACNA1A | c.4981C>T (p.Leu1661Phe) c.4987C>T (p.Leu1663Phe) c.400C>T n.205C>T c.142C>T (p.Leu48Phe) n.186C>T c.4984C>T (p.Leu1662Phe) n.970C>T c.296C>T c.4990C>T (p.Leu1664Phe) c.277C>T (p.Leu93Phe) c.4999C>T (p.Leu1667Phe) c.4843C>T (p.Leu1615Phe) c.241C>T n.374C>T c.385C>T (p.Leu129Phe) c.5185C>T (p.Leu1729Phe) c.1039C>T (p.Leu347Phe) c.442C>T (p.Leu148Phe) | |
| 19 | g.13235700G>C | CA404336996 | CACNA1A | c.4981C>G (p.Leu1661Val) c.4987C>G (p.Leu1663Val) c.400C>G n.205C>G c.142C>G (p.Leu48Val) n.186C>G c.4984C>G (p.Leu1662Val) n.970C>G c.296C>G c.4990C>G (p.Leu1664Val) c.277C>G (p.Leu93Val) c.4999C>G (p.Leu1667Val) c.4843C>G (p.Leu1615Val) c.241C>G n.374C>G c.385C>G (p.Leu129Val) c.5185C>G (p.Leu1729Val) c.1039C>G (p.Leu347Val) c.442C>G (p.Leu148Val) | |
| 19 | g.13235700G>T | CA404337000 | CACNA1A | c.4981C>A (p.Leu1661Ile) c.4987C>A (p.Leu1663Ile) c.400C>A n.205C>A c.142C>A (p.Leu48Ile) n.186C>A c.4984C>A (p.Leu1662Ile) n.970C>A c.296C>A c.4990C>A (p.Leu1664Ile) c.277C>A (p.Leu93Ile) c.4999C>A (p.Leu1667Ile) c.4843C>A (p.Leu1615Ile) c.241C>A n.374C>A c.385C>A (p.Leu129Ile) c.5185C>A (p.Leu1729Ile) c.1039C>A (p.Leu347Ile) c.442C>A (p.Leu148Ile) | COSMIC COSMIC COSMIC COSMIC |
| 19 | g.13235701G>A | CA505658813 | CACNA1A | c.4980C>T (p.Arg1660=) c.4986C>T (p.Arg1662=) c.399C>T n.204C>T c.141C>T (p.Arg47=) n.185C>T c.4983C>T (p.Arg1661=) n.969C>T c.295C>T c.4989C>T (p.Arg1663=) c.276C>T (p.Arg92=) c.4998C>T (p.Arg1666=) c.4842C>T (p.Arg1614=) c.240C>T n.373C>T c.384C>T (p.Arg128=) c.5184C>T (p.Arg1728=) c.1038C>T (p.Arg346=) c.441C>T (p.Arg147=) | gnomAD v4 |
| 19 | g.13235701G>C | CA505658814 | CACNA1A | c.4980C>G (p.Arg1660=) c.4986C>G (p.Arg1662=) c.399C>G n.204C>G c.141C>G (p.Arg47=) n.185C>G c.4983C>G (p.Arg1661=) n.969C>G c.295C>G c.4989C>G (p.Arg1663=) c.276C>G (p.Arg92=) c.4998C>G (p.Arg1666=) c.4842C>G (p.Arg1614=) c.240C>G n.373C>G c.384C>G (p.Arg128=) c.5184C>G (p.Arg1728=) c.1038C>G (p.Arg346=) c.441C>G (p.Arg147=) | |
| 19 | g.13235701G>T | CA505658815 | CACNA1A | c.4980C>A (p.Arg1660=) c.4986C>A (p.Arg1662=) c.399C>A n.204C>A c.141C>A (p.Arg47=) n.185C>A c.4983C>A (p.Arg1661=) n.969C>A c.295C>A c.4989C>A (p.Arg1663=) c.276C>A (p.Arg92=) c.4998C>A (p.Arg1666=) c.4842C>A (p.Arg1614=) c.240C>A n.373C>A c.384C>A (p.Arg128=) c.5184C>A (p.Arg1728=) c.1038C>A (p.Arg346=) c.441C>A (p.Arg147=) | |
| 19 | g.13235702C>A | CA404337004 | CACNA1A | c.4979G>T (p.Arg1660Leu) c.4985G>T (p.Arg1662Leu) c.398G>T n.203G>T c.140G>T (p.Arg47Leu) n.184G>T c.4982G>T (p.Arg1661Leu) n.968G>T c.294G>T c.4988G>T (p.Arg1663Leu) c.275G>T (p.Arg92Leu) c.4997G>T (p.Arg1666Leu) c.4841G>T (p.Arg1614Leu) c.239G>T n.372G>T c.383G>T (p.Arg128Leu) c.5183G>T (p.Arg1728Leu) c.1037G>T (p.Arg346Leu) c.440G>T (p.Arg147Leu) | |
| 19 | g.13235702C= | CA2323795785 | CACNA1A | c.4979G= (p.Arg1660=) c.4985G= (p.Arg1662=) c.398G= n.203G= c.140G= (p.Arg47=) n.184G= c.4982G= (p.Arg1661=) n.968G= c.294G= c.4988G= (p.Arg1663=) c.275G= (p.Arg92=) c.4997G= (p.Arg1666=) c.4841G= (p.Arg1614=) c.239G= n.372G= c.383G= (p.Arg128=) c.5183G= (p.Arg1728=) c.1037G= (p.Arg346=) c.440G= (p.Arg147=) | |
| 19 | g.13235702C>G | CA404337007 | CACNA1A | c.4979G>C (p.Arg1660Pro) c.4985G>C (p.Arg1662Pro) c.398G>C n.203G>C c.140G>C (p.Arg47Pro) n.184G>C c.4982G>C (p.Arg1661Pro) n.968G>C c.294G>C c.4988G>C (p.Arg1663Pro) c.275G>C (p.Arg92Pro) c.4997G>C (p.Arg1666Pro) c.4841G>C (p.Arg1614Pro) c.239G>C n.372G>C c.383G>C (p.Arg128Pro) c.5183G>C (p.Arg1728Pro) c.1037G>C (p.Arg346Pro) c.440G>C (p.Arg147Pro) | |
| 19 | g.13235702C>T | CA254430 | CACNA1A | c.4979G>A (p.Arg1660His) c.4985G>A (p.Arg1662His) c.398G>A n.203G>A c.140G>A (p.Arg47His) n.184G>A c.4982G>A (p.Arg1661His) n.968G>A c.294G>A c.4988G>A (p.Arg1663His) c.275G>A (p.Arg92His) c.4997G>A (p.Arg1666His) c.4841G>A (p.Arg1614His) c.239G>A n.372G>A c.383G>A (p.Arg128His) c.5183G>A (p.Arg1728His) c.1037G>A (p.Arg346His) c.440G>A (p.Arg147His) | ClinVar dbSNP gnomAD v4 |
| 19 | g.13235703G>A | CA9239858 | CACNA1A | c.4978C>T (p.Arg1660Cys) c.4984C>T (p.Arg1662Cys) c.397C>T n.202C>T c.139C>T (p.Arg47Cys) n.183C>T c.4981C>T (p.Arg1661Cys) n.967C>T c.293C>T c.4987C>T (p.Arg1663Cys) c.274C>T (p.Arg92Cys) c.4996C>T (p.Arg1666Cys) c.4840C>T (p.Arg1614Cys) c.238C>T n.371C>T c.382C>T (p.Arg128Cys) c.5182C>T (p.Arg1728Cys) c.1036C>T (p.Arg346Cys) c.439C>T (p.Arg147Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.13235703G>C | CA404337014 | CACNA1A | c.4978C>G (p.Arg1660Gly) c.4984C>G (p.Arg1662Gly) c.397C>G n.202C>G c.139C>G (p.Arg47Gly) n.183C>G c.4981C>G (p.Arg1661Gly) n.967C>G c.293C>G c.4987C>G (p.Arg1663Gly) c.274C>G (p.Arg92Gly) c.4996C>G (p.Arg1666Gly) c.4840C>G (p.Arg1614Gly) c.238C>G n.371C>G c.382C>G (p.Arg128Gly) c.5182C>G (p.Arg1728Gly) c.1036C>G (p.Arg346Gly) c.439C>G (p.Arg147Gly) | |
| 19 | g.13235703G= | CA2323795786 | CACNA1A | c.4978C= (p.Arg1660=) c.4984C= (p.Arg1662=) c.397C= n.202C= c.139C= (p.Arg47=) n.183C= c.4981C= (p.Arg1661=) n.967C= c.293C= c.4987C= (p.Arg1663=) c.274C= (p.Arg92=) c.4996C= (p.Arg1666=) c.4840C= (p.Arg1614=) c.238C= n.371C= c.382C= (p.Arg128=) c.5182C= (p.Arg1728=) c.1036C= (p.Arg346=) c.439C= (p.Arg147=) | |
| 19 | g.13235703G>T | CA404337016 | CACNA1A | c.4978C>A (p.Arg1660Ser) c.4984C>A (p.Arg1662Ser) c.397C>A n.202C>A c.139C>A (p.Arg47Ser) n.183C>A c.4981C>A (p.Arg1661Ser) n.967C>A c.293C>A c.4987C>A (p.Arg1663Ser) c.274C>A (p.Arg92Ser) c.4996C>A (p.Arg1666Ser) c.4840C>A (p.Arg1614Ser) c.238C>A n.371C>A c.382C>A (p.Arg128Ser) c.5182C>A (p.Arg1728Ser) c.1036C>A (p.Arg346Ser) c.439C>A (p.Arg147Ser) | |
| 19 | g.13235704G>A | CA505658816 | CACNA1A | c.4977C>T (p.Leu1659=) c.4983C>T (p.Leu1661=) c.396C>T n.201C>T c.138C>T (p.Leu46=) n.182C>T c.4980C>T (p.Leu1660=) n.966C>T c.292C>T c.4986C>T (p.Leu1662=) c.273C>T (p.Leu91=) c.4995C>T (p.Leu1665=) c.4839C>T (p.Leu1613=) c.237C>T n.370C>T c.381C>T (p.Leu127=) c.5181C>T (p.Leu1727=) c.1035C>T (p.Leu345=) c.438C>T (p.Leu146=) | |
| 19 | g.13235704G>C | CA505658817 | CACNA1A | c.4977C>G (p.Leu1659=) c.4983C>G (p.Leu1661=) c.396C>G n.201C>G c.138C>G (p.Leu46=) n.182C>G c.4980C>G (p.Leu1660=) n.966C>G c.292C>G c.4986C>G (p.Leu1662=) c.273C>G (p.Leu91=) c.4995C>G (p.Leu1665=) c.4839C>G (p.Leu1613=) c.237C>G n.370C>G c.381C>G (p.Leu127=) c.5181C>G (p.Leu1727=) c.1035C>G (p.Leu345=) c.438C>G (p.Leu146=) | |
| 19 | g.13235704G>T | CA505658818 | CACNA1A | c.4977C>A (p.Leu1659=) c.4983C>A (p.Leu1661=) c.396C>A n.201C>A c.138C>A (p.Leu46=) n.182C>A c.4980C>A (p.Leu1660=) n.966C>A c.292C>A c.4986C>A (p.Leu1662=) c.273C>A (p.Leu91=) c.4995C>A (p.Leu1665=) c.4839C>A (p.Leu1613=) c.237C>A n.370C>A c.381C>A (p.Leu127=) c.5181C>A (p.Leu1727=) c.1035C>A (p.Leu345=) c.438C>A (p.Leu146=) | |
| 19 | g.13235705A>C | CA404337025 | CACNA1A | c.4976T>G (p.Leu1659Arg) c.4982T>G (p.Leu1661Arg) c.395T>G n.200T>G c.137T>G (p.Leu46Arg) n.181T>G c.4979T>G (p.Leu1660Arg) n.965T>G c.291T>G c.4985T>G (p.Leu1662Arg) c.272T>G (p.Leu91Arg) c.4994T>G (p.Leu1665Arg) c.4838T>G (p.Leu1613Arg) c.236T>G n.369T>G c.380T>G (p.Leu127Arg) c.5180T>G (p.Leu1727Arg) c.1034T>G (p.Leu345Arg) c.437T>G (p.Leu146Arg) | |
| 19 | g.13235705A>G | CA404337028 | CACNA1A | c.4976T>C (p.Leu1659Pro) c.4982T>C (p.Leu1661Pro) c.395T>C n.200T>C c.137T>C (p.Leu46Pro) n.181T>C c.4979T>C (p.Leu1660Pro) n.965T>C c.291T>C c.4985T>C (p.Leu1662Pro) c.272T>C (p.Leu91Pro) c.4994T>C (p.Leu1665Pro) c.4838T>C (p.Leu1613Pro) c.236T>C n.369T>C c.380T>C (p.Leu127Pro) c.5180T>C (p.Leu1727Pro) c.1034T>C (p.Leu345Pro) c.437T>C (p.Leu146Pro) | |
| 19 | g.13235705A>T | CA404337031 | CACNA1A | c.4976T>A (p.Leu1659His) c.4982T>A (p.Leu1661His) c.395T>A n.200T>A c.137T>A (p.Leu46His) n.181T>A c.4979T>A (p.Leu1660His) n.965T>A c.291T>A c.4985T>A (p.Leu1662His) c.272T>A (p.Leu91His) c.4994T>A (p.Leu1665His) c.4838T>A (p.Leu1613His) c.236T>A n.369T>A c.380T>A (p.Leu127His) c.5180T>A (p.Leu1727His) c.1034T>A (p.Leu345His) c.437T>A (p.Leu146His) | |
| 19 | g.13235706G>A | CA404337034 | CACNA1A | c.4975C>T (p.Leu1659Phe) c.4981C>T (p.Leu1661Phe) c.394C>T n.199C>T c.136C>T (p.Leu46Phe) n.180C>T c.4978C>T (p.Leu1660Phe) n.964C>T c.290C>T c.4984C>T (p.Leu1662Phe) c.271C>T (p.Leu91Phe) c.4993C>T (p.Leu1665Phe) c.4837C>T (p.Leu1613Phe) c.235C>T n.368C>T c.379C>T (p.Leu127Phe) c.5179C>T (p.Leu1727Phe) c.1033C>T (p.Leu345Phe) c.436C>T (p.Leu146Phe) | ClinVar dbSNP |
| 19 | g.13235706G>C | CA404337039 | CACNA1A | c.4975C>G (p.Leu1659Val) c.4981C>G (p.Leu1661Val) c.394C>G n.199C>G c.136C>G (p.Leu46Val) n.180C>G c.4978C>G (p.Leu1660Val) n.964C>G c.290C>G c.4984C>G (p.Leu1662Val) c.271C>G (p.Leu91Val) c.4993C>G (p.Leu1665Val) c.4837C>G (p.Leu1613Val) c.235C>G n.368C>G c.379C>G (p.Leu127Val) c.5179C>G (p.Leu1727Val) c.1033C>G (p.Leu345Val) c.436C>G (p.Leu146Val) | |
| 19 | g.13235706G>T | CA404337038 | CACNA1A | c.4975C>A (p.Leu1659Ile) c.4981C>A (p.Leu1661Ile) c.394C>A n.199C>A c.136C>A (p.Leu46Ile) n.180C>A c.4978C>A (p.Leu1660Ile) n.964C>A c.290C>A c.4984C>A (p.Leu1662Ile) c.271C>A (p.Leu91Ile) c.4993C>A (p.Leu1665Ile) c.4837C>A (p.Leu1613Ile) c.235C>A n.368C>A c.379C>A (p.Leu127Ile) c.5179C>A (p.Leu1727Ile) c.1033C>A (p.Leu345Ile) c.436C>A (p.Leu146Ile) | |
| 19 | g.13235707A>C | CA404337042 | CACNA1A | c.4974T>G (p.Phe1658Leu) c.4980T>G (p.Phe1660Leu) c.393T>G n.198T>G c.135T>G (p.Phe45Leu) n.179T>G c.4977T>G (p.Phe1659Leu) n.963T>G c.289T>G c.4983T>G (p.Phe1661Leu) c.270T>G (p.Phe90Leu) c.4992T>G (p.Phe1664Leu) c.4836T>G (p.Phe1612Leu) c.234T>G n.367T>G c.378T>G (p.Phe126Leu) c.5178T>G (p.Phe1726Leu) c.1032T>G (p.Phe344Leu) c.435T>G (p.Phe145Leu) | |
| 19 | g.13235707A>G | CA505658819 | CACNA1A | c.4974T>C (p.Phe1658=) c.4980T>C (p.Phe1660=) c.393T>C n.198T>C c.135T>C (p.Phe45=) n.179T>C c.4977T>C (p.Phe1659=) n.963T>C c.289T>C c.4983T>C (p.Phe1661=) c.270T>C (p.Phe90=) c.4992T>C (p.Phe1664=) c.4836T>C (p.Phe1612=) c.234T>C n.367T>C c.378T>C (p.Phe126=) c.5178T>C (p.Phe1726=) c.1032T>C (p.Phe344=) c.435T>C (p.Phe145=) | gnomAD v4 |
| 19 | g.13235707A>T | CA404337043 | CACNA1A | c.4974T>A (p.Phe1658Leu) c.4980T>A (p.Phe1660Leu) c.393T>A n.198T>A c.135T>A (p.Phe45Leu) n.179T>A c.4977T>A (p.Phe1659Leu) n.963T>A c.289T>A c.4983T>A (p.Phe1661Leu) c.270T>A (p.Phe90Leu) c.4992T>A (p.Phe1664Leu) c.4836T>A (p.Phe1612Leu) c.234T>A n.367T>A c.378T>A (p.Phe126Leu) c.5178T>A (p.Phe1726Leu) c.1032T>A (p.Phe344Leu) c.435T>A (p.Phe145Leu) | |
| 19 | g.13235708A>C | CA404337046 | CACNA1A | c.4973T>G (p.Phe1658Cys) c.4979T>G (p.Phe1660Cys) c.392T>G n.197T>G c.134T>G (p.Phe45Cys) n.178T>G c.4976T>G (p.Phe1659Cys) n.962T>G c.288T>G c.4982T>G (p.Phe1661Cys) c.269T>G (p.Phe90Cys) c.4991T>G (p.Phe1664Cys) c.4835T>G (p.Phe1612Cys) c.233T>G n.366T>G c.377T>G (p.Phe126Cys) c.5177T>G (p.Phe1726Cys) c.1031T>G (p.Phe344Cys) c.434T>G (p.Phe145Cys) |