| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.237798037G>A | CA085539 | RYR2 | c.*5049G>A (n.*5049G>A) c.13939G>A (p.Val4647Ile) c.13978G>A (p.Val4660Ile) c.6128G>A c.13957G>A (p.Val4653Ile) c.13906G>A (p.Val4636Ile) n.468G>A c.14011G>A (p.Val4671Ile) c.14008G>A (p.Val4670Ile) c.13987G>A (p.Val4663Ile) c.13981G>A (p.Val4661Ile) c.13975G>A (p.Val4659Ile) c.13951G>A (p.Val4651Ile) c.13774G>A (p.Val4592Ile) c.13918G>A (p.Val4640Ile) c.13990G>A (p.Val4664Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237798037G>T | CA008087 | RYR2 | c.*5049G>T (n.*5049G>T) c.13939G>T (p.Val4647Phe) c.13978G>T (p.Val4660Phe) c.6128G>T c.13957G>T (p.Val4653Phe) c.13906G>T (p.Val4636Phe) n.468G>T c.14011G>T (p.Val4671Phe) c.14008G>T (p.Val4670Phe) c.13987G>T (p.Val4663Phe) c.13981G>T (p.Val4661Phe) c.13975G>T (p.Val4659Phe) c.13951G>T (p.Val4651Phe) c.13774G>T (p.Val4592Phe) c.13918G>T (p.Val4640Phe) c.13990G>T (p.Val4664Phe) | ClinVar dbSNP |
| 1 | g.237798037G= | CA1141581503 | RYR2 | c.*5049G= (n.*5049G=) c.13939G= (p.Val4647=) c.13978G= (p.Val4660=) c.6128G= c.13957G= (p.Val4653=) c.13906G= (p.Val4636=) n.468G= c.14011G= (p.Val4671=) c.14008G= (p.Val4670=) c.13987G= (p.Val4663=) c.13981G= (p.Val4661=) c.13975G= (p.Val4659=) c.13951G= (p.Val4651=) c.13774G= (p.Val4592=) c.13918G= (p.Val4640=) c.13990G= (p.Val4664=) | dbSNP |