| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.2608651T>C | CA204669 | CACNA1C | c.3572T>C (p.Ile1191Thr) c.3497T>C (p.Ile1166Thr) n.325T>C c.3587T>C (p.Ile1196Thr) c.3647T>C (p.Ile1216Thr) c.3488T>C (p.Ile1163Thr) c.3662T>C (p.Ile1221Thr) c.3557T>C (p.Ile1186Thr) c.*2104T>C (n.*2104T>C) c.212T>C (p.Ile71Thr) c.3020T>C (p.Ile1007Thr) c.3080T>C (p.Ile1027Thr) c.2657T>C (p.Ile886Thr) c.2102T>C (p.Ile701Thr) c.3860T>C (p.Ile1287Thr) c.3665T>C (p.Ile1222Thr) c.3740T>C (p.Ile1247Thr) c.3656T>C (p.Ile1219Thr) | ClinVar dbSNP |
| 12 | g.2608651T= | CA2012315695 | CACNA1C | c.3572T= (p.Ile1191=) c.3497T= (p.Ile1166=) n.325T= c.3587T= (p.Ile1196=) c.3647T= (p.Ile1216=) c.3488T= (p.Ile1163=) c.3662T= (p.Ile1221=) c.3557T= (p.Ile1186=) c.*2104T= (n.*2104T=) c.212T= (p.Ile71=) c.3020T= (p.Ile1007=) c.3080T= (p.Ile1027=) c.2657T= (p.Ile886=) c.2102T= (p.Ile701=) c.3860T= (p.Ile1287=) c.3665T= (p.Ile1222=) c.3740T= (p.Ile1247=) c.3656T= (p.Ile1219=) | dbSNP |