| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.32756465T>C | CA4705942 | NRG1 | c.866T>C (p.Met289Thr) c.404T>C (p.Met135Thr) c.1046T>C (p.Met349Thr) c.716T>C (p.Met239Thr) c.*39T>C (n.*39T>C) c.818T>C (p.Met273Thr) c.857T>C (p.Met286Thr) c.604+1991T>C c.732T>C c.980T>C (p.Met327Thr) c.767T>C (p.Met256Thr) c.881T>C (p.Met294Thr) c.395T>C (p.Met132Thr) n.596T>C c.1085T>C (p.Met362Thr) c.1031T>C (p.Met344Thr) c.1022T>C (p.Met341Thr) c.206T>C (p.Met69Thr) c.902T>C (p.Met301Thr) c.92T>C (p.Met31Thr) c.887T>C (p.Met296Thr) c.878T>C (p.Met293Thr) c.800T>C (p.Met267Thr) c.779T>C (p.Met260Thr) c.419T>C (p.Met140Thr) c.764T>C (p.Met255Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.32756465T= | CA1774866083 | NRG1 | c.866T= (p.Met289=) c.404T= (p.Met135=) c.1046T= (p.Met349=) c.716T= (p.Met239=) c.*39T= (n.*39T=) c.818T= (p.Met273=) c.857T= (p.Met286=) c.604+1991T= c.732T= c.980T= (p.Met327=) c.767T= (p.Met256=) c.881T= (p.Met294=) c.395T= (p.Met132=) n.596T= c.1085T= (p.Met362=) c.1031T= (p.Met344=) c.1022T= (p.Met341=) c.206T= (p.Met69=) c.902T= (p.Met301=) c.92T= (p.Met31=) c.887T= (p.Met296=) c.878T= (p.Met293=) c.800T= (p.Met267=) c.779T= (p.Met260=) c.419T= (p.Met140=) c.764T= (p.Met255=) | dbSNP |