| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.2593261G>C | CA346203 | CACNA1C | c.2654G>C (p.Arg885Pro) c.2579G>C (p.Arg860Pro) c.1071G>C c.2669G>C (p.Arg890Pro) c.2570G>C (p.Arg857Pro) c.2744G>C (p.Arg915Pro) c.*1186G>C (n.*1186G>C) c.*2199G>C (n.*2199G>C) c.414G>C c.2102G>C (p.Arg701Pro) c.1739G>C (p.Arg580Pro) c.1184G>C (p.Arg395Pro) c.2942G>C (p.Arg981Pro) c.2747G>C (p.Arg916Pro) c.2822G>C (p.Arg941Pro) c.2738G>C (p.Arg913Pro) | ClinVar dbSNP |
| 12 | g.2593261G>A | CA301404 | CACNA1C | c.2654G>A (p.Arg885Gln) c.2579G>A (p.Arg860Gln) c.1071G>A c.2669G>A (p.Arg890Gln) c.2570G>A (p.Arg857Gln) c.2744G>A (p.Arg915Gln) c.*1186G>A (n.*1186G>A) c.*2199G>A (n.*2199G>A) c.414G>A c.2102G>A (p.Arg701Gln) c.1739G>A (p.Arg580Gln) c.1184G>A (p.Arg395Gln) c.2942G>A (p.Arg981Gln) c.2747G>A (p.Arg916Gln) c.2822G>A (p.Arg941Gln) c.2738G>A (p.Arg913Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.2593261G= | CA2012308925 | CACNA1C | c.2654G= (p.Arg885=) c.2579G= (p.Arg860=) c.1071G= c.2669G= (p.Arg890=) c.2570G= (p.Arg857=) c.2744G= (p.Arg915=) c.*1186G= (n.*1186G=) c.*2199G= (n.*2199G=) c.414G= c.2102G= (p.Arg701=) c.1739G= (p.Arg580=) c.1184G= (p.Arg395=) c.2942G= (p.Arg981=) c.2747G= (p.Arg916=) c.2822G= (p.Arg941=) c.2738G= (p.Arg913=) | dbSNP |
| 12 | g.2593261G>T | CA383372161 | CACNA1C | c.2654G>T (p.Arg885Leu) c.2579G>T (p.Arg860Leu) c.1071G>T c.2669G>T (p.Arg890Leu) c.2570G>T (p.Arg857Leu) c.2744G>T (p.Arg915Leu) c.*1186G>T (n.*1186G>T) c.*2199G>T (n.*2199G>T) c.414G>T c.2102G>T (p.Arg701Leu) c.1739G>T (p.Arg580Leu) c.1184G>T (p.Arg395Leu) c.2942G>T (p.Arg981Leu) c.2747G>T (p.Arg916Leu) c.2822G>T (p.Arg941Leu) c.2738G>T (p.Arg913Leu) | dbSNP gnomAD v4 |