| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.2223629A>C | CA686442816 | CACNA1C | c.477+103199A>C (n.477+103199A>C) c.428+103199A>C c.567+103199A>C (n.567+103199A>C) n.484-48707A>C c.*97+103199A>C (n.*97+103199A>C) c.-642+103199A>C (n.-642+103199A>C) c.645+103199A>C (n.645+103199A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.2223629A>T | CA13576928 | CACNA1C | c.477+103199A>T (n.477+103199A>T) c.428+103199A>T c.567+103199A>T (n.567+103199A>T) n.484-48707A>T c.*97+103199A>T (n.*97+103199A>T) c.-642+103199A>T (n.-642+103199A>T) c.645+103199A>T (n.645+103199A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |