Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.38543290T>G | CA2584908066 | RYR1 | c.100-57T>G c.82-57T>G c.11690-57T>G (n.11690-57T>G) c.11675-57T>G (n.11675-57T>G) c.11672-57T>G (n.11672-57T>G) c.299-57T>G c.5059-57T>G c.11657-57T>G (n.11657-57T>G) c.11687-57T>G (n.11687-57T>G) | gnomAD v4 |
19 | g.38543291G>T | CA2584908067 | RYR1 | c.100-56G>T c.82-56G>T c.11690-56G>T (n.11690-56G>T) c.11675-56G>T (n.11675-56G>T) c.11672-56G>T (n.11672-56G>T) c.299-56G>T c.5059-56G>T c.11657-56G>T (n.11657-56G>T) c.11687-56G>T (n.11687-56G>T) | gnomAD v4 |
19 | g.38543293T>A | CA2584908068 | RYR1 | c.100-54T>A c.82-54T>A c.11690-54T>A (n.11690-54T>A) c.11675-54T>A (n.11675-54T>A) c.11672-54T>A (n.11672-54T>A) c.299-54T>A c.5059-54T>A c.11657-54T>A (n.11657-54T>A) c.11687-54T>A (n.11687-54T>A) | gnomAD v4 |
19 | g.38543294C>A | CA2584908069 | RYR1 | c.100-53C>A c.82-53C>A c.11690-53C>A (n.11690-53C>A) c.11675-53C>A (n.11675-53C>A) c.11672-53C>A (n.11672-53C>A) c.299-53C>A c.5059-53C>A c.11657-53C>A (n.11657-53C>A) c.11687-53C>A (n.11687-53C>A) | gnomAD v4 |
19 | g.38543295A= | CA2335074271 | RYR1 | c.100-52A= c.82-52A= c.11690-52A= (n.11690-52A=) c.11675-52A= (n.11675-52A=) c.11672-52A= (n.11672-52A=) c.299-52A= c.5059-52A= c.11657-52A= (n.11657-52A=) c.11687-52A= (n.11687-52A=) | |
19 | g.38543295A>C | CA308091863 | RYR1 | c.100-52A>C c.82-52A>C c.11690-52A>C (n.11690-52A>C) c.11675-52A>C (n.11675-52A>C) c.11672-52A>C (n.11672-52A>C) c.299-52A>C c.5059-52A>C c.11657-52A>C (n.11657-52A>C) c.11687-52A>C (n.11687-52A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38543295A>G | CA308091864 | RYR1 | c.100-52A>G c.82-52A>G c.11690-52A>G (n.11690-52A>G) c.11675-52A>G (n.11675-52A>G) c.11672-52A>G (n.11672-52A>G) c.299-52A>G c.5059-52A>G c.11657-52A>G (n.11657-52A>G) c.11687-52A>G (n.11687-52A>G) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38543295A>T | CA308091865 | RYR1 | c.100-52A>T c.82-52A>T c.11690-52A>T (n.11690-52A>T) c.11675-52A>T (n.11675-52A>T) c.11672-52A>T (n.11672-52A>T) c.299-52A>T c.5059-52A>T c.11657-52A>T (n.11657-52A>T) c.11687-52A>T (n.11687-52A>T) | dbSNP gnomAD v4 |
19 | g.38543297C>A | CA2584908070 | RYR1 | c.100-50C>A c.82-50C>A c.11690-50C>A (n.11690-50C>A) c.11675-50C>A (n.11675-50C>A) c.11672-50C>A (n.11672-50C>A) c.299-50C>A c.5059-50C>A c.11657-50C>A (n.11657-50C>A) c.11687-50C>A (n.11687-50C>A) | gnomAD v4 |
19 | g.38543299C>A | CA308091881 | RYR1 | c.100-48C>A c.82-48C>A c.11690-48C>A (n.11690-48C>A) c.11675-48C>A (n.11675-48C>A) c.11672-48C>A (n.11672-48C>A) c.299-48C>A c.5059-48C>A c.11657-48C>A (n.11657-48C>A) c.11687-48C>A (n.11687-48C>A) | dbSNP gnomAD v4 |
19 | g.38543299C= | CA2335074272 | RYR1 | c.100-48C= c.82-48C= c.11690-48C= (n.11690-48C=) c.11675-48C= (n.11675-48C=) c.11672-48C= (n.11672-48C=) c.299-48C= c.5059-48C= c.11657-48C= (n.11657-48C=) c.11687-48C= (n.11687-48C=) | |
19 | g.38543299C>T | CA2584908071 | RYR1 | c.100-48C>T c.82-48C>T c.11690-48C>T (n.11690-48C>T) c.11675-48C>T (n.11675-48C>T) c.11672-48C>T (n.11672-48C>T) c.299-48C>T c.5059-48C>T c.11657-48C>T (n.11657-48C>T) c.11687-48C>T (n.11687-48C>T) | gnomAD v4 |
19 | g.38543300C= | CA2335074273 | RYR1 | c.100-47C= c.82-47C= c.11690-47C= (n.11690-47C=) c.11675-47C= (n.11675-47C=) c.11672-47C= (n.11672-47C=) c.299-47C= c.5059-47C= c.11657-47C= (n.11657-47C=) c.11687-47C= (n.11687-47C=) | |
19 | g.38543300C>T | CA308091889 | RYR1 | c.100-47C>T c.82-47C>T c.11690-47C>T (n.11690-47C>T) c.11675-47C>T (n.11675-47C>T) c.11672-47C>T (n.11672-47C>T) c.299-47C>T c.5059-47C>T c.11657-47C>T (n.11657-47C>T) c.11687-47C>T (n.11687-47C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38543301C= | CA2335074274 | RYR1 | c.100-46C= c.82-46C= c.11690-46C= (n.11690-46C=) c.11675-46C= (n.11675-46C=) c.11672-46C= (n.11672-46C=) c.299-46C= c.5059-46C= c.11657-46C= (n.11657-46C=) c.11687-46C= (n.11687-46C=) | |
19 | g.38543301C>T | CA057519 | RYR1 | c.100-46C>T c.82-46C>T c.11690-46C>T (n.11690-46C>T) c.11675-46C>T (n.11675-46C>T) c.11672-46C>T (n.11672-46C>T) c.299-46C>T c.5059-46C>T c.11657-46C>T (n.11657-46C>T) c.11687-46C>T (n.11687-46C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38543302C>A | CA2584908072 | RYR1 | c.100-45C>A c.82-45C>A c.11690-45C>A (n.11690-45C>A) c.11675-45C>A (n.11675-45C>A) c.11672-45C>A (n.11672-45C>A) c.299-45C>A c.5059-45C>A c.11657-45C>A (n.11657-45C>A) c.11687-45C>A (n.11687-45C>A) | gnomAD v4 |
19 | g.38543302C= | CA2335074275 | RYR1 | c.100-45C= c.82-45C= c.11690-45C= (n.11690-45C=) c.11675-45C= (n.11675-45C=) c.11672-45C= (n.11672-45C=) c.299-45C= c.5059-45C= c.11657-45C= (n.11657-45C=) c.11687-45C= (n.11687-45C=) | |
19 | g.38543302C>T | CA633066738 | RYR1 | c.100-45C>T c.82-45C>T c.11690-45C>T (n.11690-45C>T) c.11675-45C>T (n.11675-45C>T) c.11672-45C>T (n.11672-45C>T) c.299-45C>T c.5059-45C>T c.11657-45C>T (n.11657-45C>T) c.11687-45C>T (n.11687-45C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38543305G>A | CA2584908074 | RYR1 | c.100-42G>A c.82-42G>A c.11690-42G>A (n.11690-42G>A) c.11675-42G>A (n.11675-42G>A) c.11672-42G>A (n.11672-42G>A) c.299-42G>A c.5059-42G>A c.11657-42G>A (n.11657-42G>A) c.11687-42G>A (n.11687-42G>A) | gnomAD v4 |
19 | g.38543305G>C | CA2584908073 | RYR1 | c.100-42G>C c.82-42G>C c.11690-42G>C (n.11690-42G>C) c.11675-42G>C (n.11675-42G>C) c.11672-42G>C (n.11672-42G>C) c.299-42G>C c.5059-42G>C c.11657-42G>C (n.11657-42G>C) c.11687-42G>C (n.11687-42G>C) | gnomAD v4 |
19 | g.38543306C>A | CA633066739 | RYR1 | c.100-41C>A c.82-41C>A c.11690-41C>A (n.11690-41C>A) c.11675-41C>A (n.11675-41C>A) c.11672-41C>A (n.11672-41C>A) c.299-41C>A c.5059-41C>A c.11657-41C>A (n.11657-41C>A) c.11687-41C>A (n.11687-41C>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38543306C= | CA2335074276 | RYR1 | c.100-41C= c.82-41C= c.11690-41C= (n.11690-41C=) c.11675-41C= (n.11675-41C=) c.11672-41C= (n.11672-41C=) c.299-41C= c.5059-41C= c.11657-41C= (n.11657-41C=) c.11687-41C= (n.11687-41C=) | |
19 | g.38543306C>T | CA633066740 | RYR1 | c.100-41C>T c.82-41C>T c.11690-41C>T (n.11690-41C>T) c.11675-41C>T (n.11675-41C>T) c.11672-41C>T (n.11672-41C>T) c.299-41C>T c.5059-41C>T c.11657-41C>T (n.11657-41C>T) c.11687-41C>T (n.11687-41C>T) | dbSNP gnomAD v2 |
19 | g.38543308C>T | CA657534943 | RYR1 | c.100-39C>T c.82-39C>T c.11690-39C>T (n.11690-39C>T) c.11675-39C>T (n.11675-39C>T) c.11672-39C>T (n.11672-39C>T) c.299-39C>T c.5059-39C>T c.11657-39C>T (n.11657-39C>T) c.11687-39C>T (n.11687-39C>T) | gnomAD v4 COSMIC |
19 | g.38543309A= | CA2335074277 | RYR1 | c.100-38A= c.82-38A= c.11690-38A= (n.11690-38A=) c.11675-38A= (n.11675-38A=) c.11672-38A= (n.11672-38A=) c.299-38A= c.5059-38A= c.11657-38A= (n.11657-38A=) c.11687-38A= (n.11687-38A=) | |
19 | g.38543309A>G | CA057511 | RYR1 | c.100-38A>G c.82-38A>G c.11690-38A>G (n.11690-38A>G) c.11675-38A>G (n.11675-38A>G) c.11672-38A>G (n.11672-38A>G) c.299-38A>G c.5059-38A>G c.11657-38A>G (n.11657-38A>G) c.11687-38A>G (n.11687-38A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38543310T>C | CA057509 | RYR1 | c.100-37T>C c.82-37T>C c.11690-37T>C (n.11690-37T>C) c.11675-37T>C (n.11675-37T>C) c.11672-37T>C (n.11672-37T>C) c.299-37T>C c.5059-37T>C c.11657-37T>C (n.11657-37T>C) c.11687-37T>C (n.11687-37T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38543310T= | CA2335074278 | RYR1 | c.100-37T= c.82-37T= c.11690-37T= (n.11690-37T=) c.11675-37T= (n.11675-37T=) c.11672-37T= (n.11672-37T=) c.299-37T= c.5059-37T= c.11657-37T= (n.11657-37T=) c.11687-37T= (n.11687-37T=) | |
19 | g.38543311G= | CA2335074279 | RYR1 | c.100-36G= c.82-36G= c.11690-36G= (n.11690-36G=) c.11675-36G= (n.11675-36G=) c.11672-36G= (n.11672-36G=) c.299-36G= c.5059-36G= c.11657-36G= (n.11657-36G=) c.11687-36G= (n.11687-36G=) | |
19 | g.38543311G>T | CA633066741 | RYR1 | c.100-36G>T c.82-36G>T c.11690-36G>T (n.11690-36G>T) c.11675-36G>T (n.11675-36G>T) c.11672-36G>T (n.11672-36G>T) c.299-36G>T c.5059-36G>T c.11657-36G>T (n.11657-36G>T) c.11687-36G>T (n.11687-36G>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38543312G>A | CA2584908075 | RYR1 | c.100-35G>A c.82-35G>A c.11690-35G>A (n.11690-35G>A) c.11675-35G>A (n.11675-35G>A) c.11672-35G>A (n.11672-35G>A) c.299-35G>A c.5059-35G>A c.11657-35G>A (n.11657-35G>A) c.11687-35G>A (n.11687-35G>A) | gnomAD v4 |
19 | g.38543312G>C | CA057505 | RYR1 | c.100-35G>C c.82-35G>C c.11690-35G>C (n.11690-35G>C) c.11675-35G>C (n.11675-35G>C) c.11672-35G>C (n.11672-35G>C) c.299-35G>C c.5059-35G>C c.11657-35G>C (n.11657-35G>C) c.11687-35G>C (n.11687-35G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38543312G= | CA2335074280 | RYR1 | c.100-35G= c.82-35G= c.11690-35G= (n.11690-35G=) c.11675-35G= (n.11675-35G=) c.11672-35G= (n.11672-35G=) c.299-35G= c.5059-35G= c.11657-35G= (n.11657-35G=) c.11687-35G= (n.11687-35G=) | |
19 | g.38543313G>A | CA057499 | RYR1 | c.100-34G>A c.82-34G>A c.11690-34G>A (n.11690-34G>A) c.11675-34G>A (n.11675-34G>A) c.11672-34G>A (n.11672-34G>A) c.299-34G>A c.5059-34G>A c.11657-34G>A (n.11657-34G>A) c.11687-34G>A (n.11687-34G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38543313G>C | CA2584908076 | RYR1 | c.100-34G>C c.82-34G>C c.11690-34G>C (n.11690-34G>C) c.11675-34G>C (n.11675-34G>C) c.11672-34G>C (n.11672-34G>C) c.299-34G>C c.5059-34G>C c.11657-34G>C (n.11657-34G>C) c.11687-34G>C (n.11687-34G>C) | gnomAD v4 |
19 | g.38543313G= | CA2335074281 | RYR1 | c.100-34G= c.82-34G= c.11690-34G= (n.11690-34G=) c.11675-34G= (n.11675-34G=) c.11672-34G= (n.11672-34G=) c.299-34G= c.5059-34G= c.11657-34G= (n.11657-34G=) c.11687-34G= (n.11687-34G=) | |
19 | g.38543314A= | CA2335074282 | RYR1 | c.100-33A= c.82-33A= c.11690-33A= (n.11690-33A=) c.11675-33A= (n.11675-33A=) c.11672-33A= (n.11672-33A=) c.299-33A= c.5059-33A= c.11657-33A= (n.11657-33A=) c.11687-33A= (n.11687-33A=) | |
19 | g.38543314A>G | CA633066742 | RYR1 | c.100-33A>G c.82-33A>G c.11690-33A>G (n.11690-33A>G) c.11675-33A>G (n.11675-33A>G) c.11672-33A>G (n.11672-33A>G) c.299-33A>G c.5059-33A>G c.11657-33A>G (n.11657-33A>G) c.11687-33A>G (n.11687-33A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38543315G>A | CA633066743 | RYR1 | c.100-32G>A c.82-32G>A c.11690-32G>A (n.11690-32G>A) c.11675-32G>A (n.11675-32G>A) c.11672-32G>A (n.11672-32G>A) c.299-32G>A c.5059-32G>A c.11657-32G>A (n.11657-32G>A) c.11687-32G>A (n.11687-32G>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38543315G>C | CA080404 | RYR1 | c.100-32G>C c.82-32G>C c.11690-32G>C (n.11690-32G>C) c.11675-32G>C (n.11675-32G>C) c.11672-32G>C (n.11672-32G>C) c.299-32G>C c.5059-32G>C c.11657-32G>C (n.11657-32G>C) c.11687-32G>C (n.11687-32G>C) | |
19 | g.38543315G= | CA2335074283 | RYR1 | c.100-32G= c.82-32G= c.11690-32G= (n.11690-32G=) c.11675-32G= (n.11675-32G=) c.11672-32G= (n.11672-32G=) c.299-32G= c.5059-32G= c.11657-32G= (n.11657-32G=) c.11687-32G= (n.11687-32G=) | |
19 | g.38543316G>A | CA057498 | RYR1 | c.100-31G>A c.82-31G>A c.11690-31G>A (n.11690-31G>A) c.11675-31G>A (n.11675-31G>A) c.11672-31G>A (n.11672-31G>A) c.299-31G>A c.5059-31G>A c.11657-31G>A (n.11657-31G>A) c.11687-31G>A (n.11687-31G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38543316G= | CA2335074284 | RYR1 | c.100-31G= c.82-31G= c.11690-31G= (n.11690-31G=) c.11675-31G= (n.11675-31G=) c.11672-31G= (n.11672-31G=) c.299-31G= c.5059-31G= c.11657-31G= (n.11657-31G=) c.11687-31G= (n.11687-31G=) | |
19 | g.38543316G>T | CA633066744 | RYR1 | c.100-31G>T c.82-31G>T c.11690-31G>T (n.11690-31G>T) c.11675-31G>T (n.11675-31G>T) c.11672-31G>T (n.11672-31G>T) c.299-31G>T c.5059-31G>T c.11657-31G>T (n.11657-31G>T) c.11687-31G>T (n.11687-31G>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38543317T>A | CA308091923 | RYR1 | c.100-30T>A c.82-30T>A c.11690-30T>A (n.11690-30T>A) c.11675-30T>A (n.11675-30T>A) c.11672-30T>A (n.11672-30T>A) c.299-30T>A c.5059-30T>A c.11657-30T>A (n.11657-30T>A) c.11687-30T>A (n.11687-30T>A) | dbSNP gnomAD v4 |
19 | g.38543317T= | CA2335074285 | RYR1 | c.100-30T= c.82-30T= c.11690-30T= (n.11690-30T=) c.11675-30T= (n.11675-30T=) c.11672-30T= (n.11672-30T=) c.299-30T= c.5059-30T= c.11657-30T= (n.11657-30T=) c.11687-30T= (n.11687-30T=) | |
19 | g.38543318G>A | CA2576804828 | RYR1 | c.100-29G>A c.82-29G>A c.11690-29G>A (n.11690-29G>A) c.11675-29G>A (n.11675-29G>A) c.11672-29G>A (n.11672-29G>A) c.299-29G>A c.5059-29G>A c.11657-29G>A (n.11657-29G>A) c.11687-29G>A (n.11687-29G>A) | |
19 | g.38543318G= | CA2335074286 | RYR1 | c.100-29G= c.82-29G= c.11690-29G= (n.11690-29G=) c.11675-29G= (n.11675-29G=) c.11672-29G= (n.11672-29G=) c.299-29G= c.5059-29G= c.11657-29G= (n.11657-29G=) c.11687-29G= (n.11687-29G=) | |
19 | g.38543318G>T | CA057496 | RYR1 | c.100-29G>T c.82-29G>T c.11690-29G>T (n.11690-29G>T) c.11675-29G>T (n.11675-29G>T) c.11672-29G>T (n.11672-29G>T) c.299-29G>T c.5059-29G>T c.11657-29G>T (n.11657-29G>T) c.11687-29G>T (n.11687-29G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38543319C>T | CA2814346115 | RYR1 | c.100-28C>T c.82-28C>T c.11690-28C>T (n.11690-28C>T) c.11675-28C>T (n.11675-28C>T) c.11672-28C>T (n.11672-28C>T) c.299-28C>T c.5059-28C>T c.11657-28C>T (n.11657-28C>T) c.11687-28C>T (n.11687-28C>T) | |
19 | g.38543321G>A | CA2584908077 | RYR1 | c.100-26G>A c.82-26G>A c.11690-26G>A (n.11690-26G>A) c.11675-26G>A (n.11675-26G>A) c.11672-26G>A (n.11672-26G>A) c.299-26G>A c.5059-26G>A c.11657-26G>A (n.11657-26G>A) c.11687-26G>A (n.11687-26G>A) | gnomAD v4 |
19 | g.38543321G>T | CA080402 | RYR1 | c.100-26G>T c.82-26G>T c.11690-26G>T (n.11690-26G>T) c.11675-26G>T (n.11675-26G>T) c.11672-26G>T (n.11672-26G>T) c.299-26G>T c.5059-26G>T c.11657-26G>T (n.11657-26G>T) c.11687-26G>T (n.11687-26G>T) | |
19 | g.38543323A= | CA2335074287 | RYR1 | c.100-24A= c.82-24A= c.11690-24A= (n.11690-24A=) c.11675-24A= (n.11675-24A=) c.11672-24A= (n.11672-24A=) c.299-24A= c.5059-24A= c.11657-24A= (n.11657-24A=) c.11687-24A= (n.11687-24A=) | |
19 | g.38543323A>G | CA882060482 | RYR1 | c.100-24A>G c.82-24A>G c.11690-24A>G (n.11690-24A>G) c.11675-24A>G (n.11675-24A>G) c.11672-24A>G (n.11672-24A>G) c.299-24A>G c.5059-24A>G c.11657-24A>G (n.11657-24A>G) c.11687-24A>G (n.11687-24A>G) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38543324T>C | CA057491 | RYR1 | c.100-23T>C c.82-23T>C c.11690-23T>C (n.11690-23T>C) c.11675-23T>C (n.11675-23T>C) c.11672-23T>C (n.11672-23T>C) c.299-23T>C c.5059-23T>C c.11657-23T>C (n.11657-23T>C) c.11687-23T>C (n.11687-23T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38543324T= | CA2335074288 | RYR1 | c.100-23T= c.82-23T= c.11690-23T= (n.11690-23T=) c.11675-23T= (n.11675-23T=) c.11672-23T= (n.11672-23T=) c.299-23T= c.5059-23T= c.11657-23T= (n.11657-23T=) c.11687-23T= (n.11687-23T=) | |
19 | g.38543327A= | CA2335074289 | RYR1 | c.100-20A= c.82-20A= c.11690-20A= (n.11690-20A=) c.11675-20A= (n.11675-20A=) c.11672-20A= (n.11672-20A=) c.299-20A= c.5059-20A= c.11657-20A= (n.11657-20A=) c.11687-20A= (n.11687-20A=) | |
19 | g.38543327A>G | CA057486 | RYR1 | c.100-20A>G c.82-20A>G c.11690-20A>G (n.11690-20A>G) c.11675-20A>G (n.11675-20A>G) c.11672-20A>G (n.11672-20A>G) c.299-20A>G c.5059-20A>G c.11657-20A>G (n.11657-20A>G) c.11687-20A>G (n.11687-20A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38543329G>A | CA633066745 | RYR1 | c.100-18G>A c.82-18G>A c.11690-18G>A (n.11690-18G>A) c.11675-18G>A (n.11675-18G>A) c.11672-18G>A (n.11672-18G>A) c.299-18G>A c.5059-18G>A c.11657-18G>A (n.11657-18G>A) c.11687-18G>A (n.11687-18G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38543329G= | CA2335074290 | RYR1 | c.100-18G= c.82-18G= c.11690-18G= (n.11690-18G=) c.11675-18G= (n.11675-18G=) c.11672-18G= (n.11672-18G=) c.299-18G= c.5059-18G= c.11657-18G= (n.11657-18G=) c.11687-18G= (n.11687-18G=) | |
19 | g.38543330A>G | CA080400 | RYR1 | c.100-17A>G c.82-17A>G c.11690-17A>G (n.11690-17A>G) c.11675-17A>G (n.11675-17A>G) c.11672-17A>G (n.11672-17A>G) c.299-17A>G c.5059-17A>G c.11657-17A>G (n.11657-17A>G) c.11687-17A>G (n.11687-17A>G) | |
19 | g.38543331C>A | CA2335074293 | RYR1 | c.100-16C>A c.82-16C>A c.11690-16C>A (n.11690-16C>A) c.11675-16C>A (n.11675-16C>A) c.11672-16C>A (n.11672-16C>A) c.299-16C>A c.5059-16C>A c.11657-16C>A (n.11657-16C>A) c.11687-16C>A (n.11687-16C>A) | dbSNP |
19 | g.38543331C= | CA2335074292 | RYR1 | c.100-16C= c.82-16C= c.11690-16C= (n.11690-16C=) c.11675-16C= (n.11675-16C=) c.11672-16C= (n.11672-16C=) c.299-16C= c.5059-16C= c.11657-16C= (n.11657-16C=) c.11687-16C= (n.11687-16C=) | |
19 | g.38543331C>T | CA2335074294 | RYR1 | c.100-16C>T c.82-16C>T c.11690-16C>T (n.11690-16C>T) c.11675-16C>T (n.11675-16C>T) c.11672-16C>T (n.11672-16C>T) c.299-16C>T c.5059-16C>T c.11657-16C>T (n.11657-16C>T) c.11687-16C>T (n.11687-16C>T) | dbSNP gnomAD v4 |
19 | g.38543331_38543333delinsCTT | CA2335074291 | RYR1 | c.100-16_100-14delinsCTT c.82-16_82-14delinsCTT c.11690-16_11690-14delinsCTT (n.11690-16_11690-14delinsCTT) c.11675-16_11675-14delinsCTT (n.11675-16_11675-14delinsCTT) c.11672-16_11672-14delinsCTT (n.11672-16_11672-14delinsCTT) c.299-16_299-14delinsCTT c.5059-16_5059-14delinsCTT c.11657-16_11657-14delinsCTT (n.11657-16_11657-14delinsCTT) c.11687-16_11687-14delinsCTT (n.11687-16_11687-14delinsCTT) | |
19 | g.38543334_38543335del | CA057483 | RYR1 | c.100-13_100-12del c.82-13_82-12del c.11690-13_11690-12del (n.11690-13_11690-12del) c.11675-13_11675-12del (n.11675-13_11675-12del) c.11672-13_11672-12del (n.11672-13_11672-12del) c.299-13_299-12del c.5059-13_5059-12del c.11657-13_11657-12del (n.11657-13_11657-12del) c.11687-13_11687-12del (n.11687-13_11687-12del) | dbSNP ExAC |
19 | g.38543333T>C | CA2814346118 | RYR1 | c.100-14T>C c.82-14T>C c.11690-14T>C (n.11690-14T>C) c.11675-14T>C (n.11675-14T>C) c.11672-14T>C (n.11672-14T>C) c.299-14T>C c.5059-14T>C c.11657-14T>C (n.11657-14T>C) c.11687-14T>C (n.11687-14T>C) | |
19 | g.38543334T>C | CA2584908078 | RYR1 | c.100-13T>C c.82-13T>C c.11690-13T>C (n.11690-13T>C) c.11675-13T>C (n.11675-13T>C) c.11672-13T>C (n.11672-13T>C) c.299-13T>C c.5059-13T>C c.11657-13T>C (n.11657-13T>C) c.11687-13T>C (n.11687-13T>C) | gnomAD v4 |
19 | g.38543335T= | CA2335074295 | RYR1 | c.100-12T= c.82-12T= c.11690-12T= (n.11690-12T=) c.11675-12T= (n.11675-12T=) c.11672-12T= (n.11672-12T=) c.299-12T= c.5059-12T= c.11657-12T= (n.11657-12T=) c.11687-12T= (n.11687-12T=) | |
19 | g.38543336C>A | CA633066747 | RYR1 | c.100-11C>A c.82-11C>A c.11690-11C>A (n.11690-11C>A) c.11675-11C>A (n.11675-11C>A) c.11672-11C>A (n.11672-11C>A) c.299-11C>A c.5059-11C>A c.11657-11C>A (n.11657-11C>A) c.11687-11C>A (n.11687-11C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38543336C= | CA2335074296 | RYR1 | c.100-11C= c.82-11C= c.11690-11C= (n.11690-11C=) c.11675-11C= (n.11675-11C=) c.11672-11C= (n.11672-11C=) c.299-11C= c.5059-11C= c.11657-11C= (n.11657-11C=) c.11687-11C= (n.11687-11C=) | |
19 | g.38543336C>T | CA2814346122 | RYR1 | c.100-11C>T c.82-11C>T c.11690-11C>T (n.11690-11C>T) c.11675-11C>T (n.11675-11C>T) c.11672-11C>T (n.11672-11C>T) c.299-11C>T c.5059-11C>T c.11657-11C>T (n.11657-11C>T) c.11687-11C>T (n.11687-11C>T) | |
19 | g.38543336dup | CA633066746 | RYR1 | c.100-11dup c.82-11dup c.11690-11dup (n.11690-11dup) c.11675-11dup (n.11675-11dup) c.11672-11dup (n.11672-11dup) c.299-11dup c.5059-11dup c.11657-11dup (n.11657-11dup) c.11687-11dup (n.11687-11dup) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38543339C>A | CA2697556578 | RYR1 | c.100-8C>A c.82-8C>A c.11690-8C>A (n.11690-8C>A) c.11675-8C>A (n.11675-8C>A) c.11672-8C>A (n.11672-8C>A) c.299-8C>A c.5059-8C>A c.11657-8C>A (n.11657-8C>A) c.11687-8C>A (n.11687-8C>A) | ClinVar |
19 | g.38543339C= | CA2335074297 | RYR1 | c.100-8C= c.82-8C= c.11690-8C= (n.11690-8C=) c.11675-8C= (n.11675-8C=) c.11672-8C= (n.11672-8C=) c.299-8C= c.5059-8C= c.11657-8C= (n.11657-8C=) c.11687-8C= (n.11687-8C=) | |
19 | g.38543339C>G | CA633066748 | RYR1 | c.100-8C>G c.82-8C>G c.11690-8C>G (n.11690-8C>G) c.11675-8C>G (n.11675-8C>G) c.11672-8C>G (n.11672-8C>G) c.299-8C>G c.5059-8C>G c.11657-8C>G (n.11657-8C>G) c.11687-8C>G (n.11687-8C>G) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38543341C>A | CA2584908080 | RYR1 | c.100-6C>A c.82-6C>A c.11690-6C>A (n.11690-6C>A) c.11675-6C>A (n.11675-6C>A) c.11672-6C>A (n.11672-6C>A) c.299-6C>A c.5059-6C>A c.11657-6C>A (n.11657-6C>A) c.11687-6C>A (n.11687-6C>A) | gnomAD v4 |
19 | g.38543344del | CA2584908079 | RYR1 | c.100-3del c.82-3del c.11690-3del (n.11690-3del) c.11675-3del (n.11675-3del) c.11672-3del (n.11672-3del) c.299-3del c.5059-3del c.11657-3del (n.11657-3del) c.11687-3del (n.11687-3del) | ClinVar gnomAD v4 |
19 | g.38543342C= | CA2335074298 | RYR1 | c.100-5C= c.82-5C= c.11690-5C= (n.11690-5C=) c.11675-5C= (n.11675-5C=) c.11672-5C= (n.11672-5C=) c.299-5C= c.5059-5C= c.11657-5C= (n.11657-5C=) c.11687-5C= (n.11687-5C=) | |
19 | g.38543342C>G | CA057523 | RYR1 | c.100-5C>G c.82-5C>G c.11690-5C>G (n.11690-5C>G) c.11675-5C>G (n.11675-5C>G) c.11672-5C>G (n.11672-5C>G) c.299-5C>G c.5059-5C>G c.11657-5C>G (n.11657-5C>G) c.11687-5C>G (n.11687-5C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38543343C= | CA2335074299 | RYR1 | c.100-4C= c.82-4C= c.11690-4C= (n.11690-4C=) c.11675-4C= (n.11675-4C=) c.11672-4C= (n.11672-4C=) c.299-4C= c.5059-4C= c.11657-4C= (n.11657-4C=) c.11687-4C= (n.11687-4C=) | |
19 | g.38543343C>G | CA995728661 | RYR1 | c.100-4C>G c.82-4C>G c.11690-4C>G (n.11690-4C>G) c.11675-4C>G (n.11675-4C>G) c.11672-4C>G (n.11672-4C>G) c.299-4C>G c.5059-4C>G c.11657-4C>G (n.11657-4C>G) c.11687-4C>G (n.11687-4C>G) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38543344C= | CA2335074300 | RYR1 | c.100-3C= c.82-3C= c.11690-3C= (n.11690-3C=) c.11675-3C= (n.11675-3C=) c.11672-3C= (n.11672-3C=) c.299-3C= c.5059-3C= c.11657-3C= (n.11657-3C=) c.11687-3C= (n.11687-3C=) | |
19 | g.38543344C>G | CA2584908081 | RYR1 | c.100-3C>G c.82-3C>G c.11690-3C>G (n.11690-3C>G) c.11675-3C>G (n.11675-3C>G) c.11672-3C>G (n.11672-3C>G) c.299-3C>G c.5059-3C>G c.11657-3C>G (n.11657-3C>G) c.11687-3C>G (n.11687-3C>G) | gnomAD v4 |
19 | g.38543344C>T | CA882060486 | RYR1 | c.100-3C>T c.82-3C>T c.11690-3C>T (n.11690-3C>T) c.11675-3C>T (n.11675-3C>T) c.11672-3C>T (n.11672-3C>T) c.299-3C>T c.5059-3C>T c.11657-3C>T (n.11657-3C>T) c.11687-3C>T (n.11687-3C>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38543345A>C | CA405661040 | RYR1 | c.100-2A>C c.82-2A>C c.11690-2A>C (n.11690-2A>C) c.11675-2A>C (n.11675-2A>C) c.11672-2A>C (n.11672-2A>C) c.299-2A>C c.5059-2A>C c.11657-2A>C (n.11657-2A>C) c.11687-2A>C (n.11687-2A>C) | ClinVar dbSNP |
19 | g.38543345A>G | CA405661038 | RYR1 | c.100-2A>G c.82-2A>G c.11690-2A>G (n.11690-2A>G) c.11675-2A>G (n.11675-2A>G) c.11672-2A>G (n.11672-2A>G) c.299-2A>G c.5059-2A>G c.11657-2A>G (n.11657-2A>G) c.11687-2A>G (n.11687-2A>G) | |
19 | g.38543345A>T | CA405661036 | RYR1 | c.100-2A>T c.82-2A>T c.11690-2A>T (n.11690-2A>T) c.11675-2A>T (n.11675-2A>T) c.11672-2A>T (n.11672-2A>T) c.299-2A>T c.5059-2A>T c.11657-2A>T (n.11657-2A>T) c.11687-2A>T (n.11687-2A>T) | |
19 | g.38543346G>A | CA405661042 | RYR1 | c.100-1G>A c.82-1G>A c.11690-1G>A (n.11690-1G>A) c.11675-1G>A (n.11675-1G>A) c.11672-1G>A (n.11672-1G>A) c.299-1G>A c.5059-1G>A c.11657-1G>A (n.11657-1G>A) c.11687-1G>A (n.11687-1G>A) | |
19 | g.38543346G>C | CA405661044 | RYR1 | c.100-1G>C c.82-1G>C c.11690-1G>C (n.11690-1G>C) c.11675-1G>C (n.11675-1G>C) c.11672-1G>C (n.11672-1G>C) c.299-1G>C c.5059-1G>C c.11657-1G>C (n.11657-1G>C) c.11687-1G>C (n.11687-1G>C) | |
19 | g.38543346G>T | CA405661046 | RYR1 | c.100-1G>T c.82-1G>T c.11690-1G>T (n.11690-1G>T) c.11675-1G>T (n.11675-1G>T) c.11672-1G>T (n.11672-1G>T) c.299-1G>T c.5059-1G>T c.11657-1G>T (n.11657-1G>T) c.11687-1G>T (n.11687-1G>T) | |
19 | g.38543347A= | CA2335074301 | RYR1 | c.100A= c.82A= c.11690A= (p.Asp3897=) c.11675A= (p.Asp3892=) c.11672A= (p.Asp3891=) c.299A= c.5059A= c.11657A= (p.Asp3886=) c.11687A= (p.Asp3896=) | |
19 | g.38543347A>C | CA405661048 | RYR1 | c.100A>C c.82A>C c.11690A>C (p.Asp3897Ala) c.11675A>C (p.Asp3892Ala) c.11672A>C (p.Asp3891Ala) c.299A>C c.5059A>C c.11657A>C (p.Asp3886Ala) c.11687A>C (p.Asp3896Ala) | |
19 | g.38543347A>G | CA405661050 | RYR1 | c.100A>G c.82A>G c.11690A>G (p.Asp3897Gly) c.11675A>G (p.Asp3892Gly) c.11672A>G (p.Asp3891Gly) c.299A>G c.5059A>G c.11657A>G (p.Asp3886Gly) c.11687A>G (p.Asp3896Gly) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38543347A>T | CA405661052 | RYR1 | c.100A>T c.82A>T c.11690A>T (p.Asp3897Val) c.11675A>T (p.Asp3892Val) c.11672A>T (p.Asp3891Val) c.299A>T c.5059A>T c.11657A>T (p.Asp3886Val) c.11687A>T (p.Asp3896Val) | |
19 | g.38543348T>A | CA405661054 | RYR1 | c.101T>A c.83T>A c.11691T>A (p.Asp3897Glu) c.11676T>A (p.Asp3892Glu) c.11673T>A (p.Asp3891Glu) c.300T>A c.5060T>A c.11658T>A (p.Asp3886Glu) c.11688T>A (p.Asp3896Glu) | |
19 | g.38543348T>C | CA057527 | RYR1 | c.101T>C c.83T>C c.11691T>C (p.Asp3897=) c.11676T>C (p.Asp3892=) c.11673T>C (p.Asp3891=) c.300T>C c.5060T>C c.11658T>C (p.Asp3886=) c.11688T>C (p.Asp3896=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38543348T>G | CA405661057 | RYR1 | c.101T>G c.83T>G c.11691T>G (p.Asp3897Glu) c.11676T>G (p.Asp3892Glu) c.11673T>G (p.Asp3891Glu) c.300T>G c.5060T>G c.11658T>G (p.Asp3886Glu) c.11688T>G (p.Asp3896Glu) | |
19 | g.38543348T= | CA2335074302 | RYR1 | c.101T= c.83T= c.11691T= (p.Asp3897=) c.11676T= (p.Asp3892=) c.11673T= (p.Asp3891=) c.300T= c.5060T= c.11658T= (p.Asp3886=) c.11688T= (p.Asp3896=) | |
19 | g.38543349T>A | CA405661059 | RYR1 | c.102T>A c.84T>A c.11692T>A (p.Phe3898Ile) c.11677T>A (p.Phe3893Ile) c.11674T>A (p.Phe3892Ile) c.301T>A c.5061T>A c.11659T>A (p.Phe3887Ile) c.11689T>A (p.Phe3897Ile) | |
19 | g.38543349T>C | CA405661062 | RYR1 | c.102T>C c.84T>C c.11692T>C (p.Phe3898Leu) c.11677T>C (p.Phe3893Leu) c.11674T>C (p.Phe3892Leu) c.301T>C c.5061T>C c.11659T>C (p.Phe3887Leu) c.11689T>C (p.Phe3897Leu) | |
19 | g.38543349T>G | CA405661063 | RYR1 | c.102T>G c.84T>G c.11692T>G (p.Phe3898Val) c.11677T>G (p.Phe3893Val) c.11674T>G (p.Phe3892Val) c.301T>G c.5061T>G c.11659T>G (p.Phe3887Val) c.11689T>G (p.Phe3897Val) | |
19 | g.38543350T>A | CA405661068 | RYR1 | c.103T>A c.85T>A c.11693T>A (p.Phe3898Tyr) c.11678T>A (p.Phe3893Tyr) c.11675T>A (p.Phe3892Tyr) c.302T>A c.5062T>A c.11660T>A (p.Phe3887Tyr) c.11690T>A (p.Phe3897Tyr) | |
19 | g.38543350T>C | CA405661070 | RYR1 | c.103T>C c.85T>C c.11693T>C (p.Phe3898Ser) c.11678T>C (p.Phe3893Ser) c.11675T>C (p.Phe3892Ser) c.302T>C c.5062T>C c.11660T>C (p.Phe3887Ser) c.11690T>C (p.Phe3897Ser) | |
19 | g.38543350T>G | CA405661066 | RYR1 | c.103T>G c.85T>G c.11693T>G (p.Phe3898Cys) c.11678T>G (p.Phe3893Cys) c.11675T>G (p.Phe3892Cys) c.302T>G c.5062T>G c.11660T>G (p.Phe3887Cys) c.11690T>G (p.Phe3897Cys) | |
19 | g.38543351C>A | CA405661073 | RYR1 | c.104C>A c.86C>A c.11694C>A (p.Phe3898Leu) c.11679C>A (p.Phe3893Leu) c.11676C>A (p.Phe3892Leu) c.303C>A c.5063C>A c.11661C>A (p.Phe3887Leu) c.11691C>A (p.Phe3897Leu) | ClinVar dbSNP COSMIC |
19 | g.38543351C>G | CA405661074 | RYR1 | c.104C>G c.86C>G c.11694C>G (p.Phe3898Leu) c.11679C>G (p.Phe3893Leu) c.11676C>G (p.Phe3892Leu) c.303C>G c.5063C>G c.11661C>G (p.Phe3887Leu) c.11691C>G (p.Phe3897Leu) | |
19 | g.38543351C>T | CA507354570 | RYR1 | c.104C>T c.86C>T c.11694C>T (p.Phe3898=) c.11679C>T (p.Phe3893=) c.11676C>T (p.Phe3892=) c.303C>T c.5063C>T c.11661C>T (p.Phe3887=) c.11691C>T (p.Phe3897=) | |
19 | g.38543352C>A | CA405661076 | RYR1 | c.105C>A c.87C>A c.11695C>A (p.Gln3899Lys) c.11680C>A (p.Gln3894Lys) c.11677C>A (p.Gln3893Lys) c.304C>A c.5064C>A c.11662C>A (p.Gln3888Lys) c.11692C>A (p.Gln3898Lys) | |
19 | g.38543352C>G | CA405661078 | RYR1 | c.105C>G c.87C>G c.11695C>G (p.Gln3899Glu) c.11680C>G (p.Gln3894Glu) c.11677C>G (p.Gln3893Glu) c.304C>G c.5064C>G c.11662C>G (p.Gln3888Glu) c.11692C>G (p.Gln3898Glu) | |
19 | g.38543352C>T | CA405661082 | RYR1 | c.105C>T c.87C>T c.11695C>T (p.Gln3899Ter) c.11680C>T (p.Gln3894Ter) c.11677C>T (p.Gln3893Ter) c.304C>T c.5064C>T c.11662C>T (p.Gln3888Ter) c.11692C>T (p.Gln3898Ter) | |
19 | g.38543353A>C | CA405661086 | RYR1 | c.106A>C c.88A>C c.11696A>C (p.Gln3899Pro) c.11681A>C (p.Gln3894Pro) c.11678A>C (p.Gln3893Pro) c.305A>C c.5065A>C c.11663A>C (p.Gln3888Pro) c.11693A>C (p.Gln3898Pro) | |
19 | g.38543353A>G | CA405661087 | RYR1 | c.106A>G c.88A>G c.11696A>G (p.Gln3899Arg) c.11681A>G (p.Gln3894Arg) c.11678A>G (p.Gln3893Arg) c.305A>G c.5065A>G c.11663A>G (p.Gln3888Arg) c.11693A>G (p.Gln3898Arg) | |
19 | g.38543353A>T | CA405661089 | RYR1 | c.106A>T c.88A>T c.11696A>T (p.Gln3899Leu) c.11681A>T (p.Gln3894Leu) c.11678A>T (p.Gln3893Leu) c.305A>T c.5065A>T c.11663A>T (p.Gln3888Leu) c.11693A>T (p.Gln3898Leu) | |
19 | g.38543354G>A | CA507354573 | RYR1 | c.107G>A c.89G>A c.11697G>A (p.Gln3899=) c.11682G>A (p.Gln3894=) c.11679G>A (p.Gln3893=) c.306G>A c.5066G>A c.11664G>A (p.Gln3888=) c.11694G>A (p.Gln3898=) | gnomAD v4 |
19 | g.38543354G>C | CA405661092 | RYR1 | c.107G>C c.89G>C c.11697G>C (p.Gln3899His) c.11682G>C (p.Gln3894His) c.11679G>C (p.Gln3893His) c.306G>C c.5066G>C c.11664G>C (p.Gln3888His) c.11694G>C (p.Gln3898His) | ClinVar dbSNP |
19 | g.38543354G= | CA2335074303 | RYR1 | c.107G= c.89G= c.11697G= (p.Gln3899=) c.11682G= (p.Gln3894=) c.11679G= (p.Gln3893=) c.306G= c.5066G= c.11664G= (p.Gln3888=) c.11694G= (p.Gln3898=) | |
19 | g.38543354G>T | CA405661093 | RYR1 | c.107G>T c.89G>T c.11697G>T (p.Gln3899His) c.11682G>T (p.Gln3894His) c.11679G>T (p.Gln3893His) c.306G>T c.5066G>T c.11664G>T (p.Gln3888His) c.11694G>T (p.Gln3898His) | ClinVar dbSNP |
19 | g.38543355A>C | CA405661095 | RYR1 | c.108A>C c.90A>C c.11698A>C (p.Asn3900His) c.11683A>C (p.Asn3895His) c.11680A>C (p.Asn3894His) c.307A>C c.5067A>C c.11665A>C (p.Asn3889His) c.11695A>C (p.Asn3899His) | |
19 | g.38543355A>G | CA405661097 | RYR1 | c.108A>G c.90A>G c.11698A>G (p.Asn3900Asp) c.11683A>G (p.Asn3895Asp) c.11680A>G (p.Asn3894Asp) c.307A>G c.5067A>G c.11665A>G (p.Asn3889Asp) c.11695A>G (p.Asn3899Asp) | |
19 | g.38543355A>T | CA405661099 | RYR1 | c.108A>T c.90A>T c.11698A>T (p.Asn3900Tyr) c.11683A>T (p.Asn3895Tyr) c.11680A>T (p.Asn3894Tyr) c.307A>T c.5067A>T c.11665A>T (p.Asn3889Tyr) c.11695A>T (p.Asn3899Tyr) | ClinVar dbSNP |
19 | g.38543356A>C | CA405661105 | RYR1 | c.109A>C c.91A>C c.11699A>C (p.Asn3900Thr) c.11684A>C (p.Asn3895Thr) c.11681A>C (p.Asn3894Thr) c.308A>C c.5068A>C c.11666A>C (p.Asn3889Thr) c.11696A>C (p.Asn3899Thr) | |
19 | g.38543356A>G | CA405661103 | RYR1 | c.109A>G c.91A>G c.11699A>G (p.Asn3900Ser) c.11684A>G (p.Asn3895Ser) c.11681A>G (p.Asn3894Ser) c.308A>G c.5068A>G c.11666A>G (p.Asn3889Ser) c.11696A>G (p.Asn3899Ser) | |
19 | g.38543356A>T | CA405661101 | RYR1 | c.109A>T c.91A>T c.11699A>T (p.Asn3900Ile) c.11684A>T (p.Asn3895Ile) c.11681A>T (p.Asn3894Ile) c.308A>T c.5068A>T c.11666A>T (p.Asn3889Ile) c.11696A>T (p.Asn3899Ile) | |
19 | g.38543357C>A | CA405661107 | RYR1 | c.110C>A c.92C>A c.11700C>A (p.Asn3900Lys) c.11685C>A (p.Asn3895Lys) c.11682C>A (p.Asn3894Lys) c.309C>A c.5069C>A c.11667C>A (p.Asn3889Lys) c.11697C>A (p.Asn3899Lys) | dbSNP |
19 | g.38543357C= | CA2335074304 | RYR1 | c.110C= c.92C= c.11700C= (p.Asn3900=) c.11685C= (p.Asn3895=) c.11682C= (p.Asn3894=) c.309C= c.5069C= c.11667C= (p.Asn3889=) c.11697C= (p.Asn3899=) | |
19 | g.38543357C>G | CA405661109 | RYR1 | c.110C>G c.92C>G c.11700C>G (p.Asn3900Lys) c.11685C>G (p.Asn3895Lys) c.11682C>G (p.Asn3894Lys) c.309C>G c.5069C>G c.11667C>G (p.Asn3889Lys) c.11697C>G (p.Asn3899Lys) | gnomAD v4 |
19 | g.38543357C>T | CA507354577 | RYR1 | c.110C>T c.92C>T c.11700C>T (p.Asn3900=) c.11685C>T (p.Asn3895=) c.11682C>T (p.Asn3894=) c.309C>T c.5069C>T c.11667C>T (p.Asn3889=) c.11697C>T (p.Asn3899=) | ClinVar |
19 | g.38543358T>A | CA405661111 | RYR1 | c.111T>A c.93T>A c.11701T>A (p.Tyr3901Asn) c.11686T>A (p.Tyr3896Asn) c.11683T>A (p.Tyr3895Asn) c.310T>A c.5070T>A c.11668T>A (p.Tyr3890Asn) c.11698T>A (p.Tyr3900Asn) | |
19 | g.38543358T>C | CA405661113 | RYR1 | c.111T>C c.93T>C c.11701T>C (p.Tyr3901His) c.11686T>C (p.Tyr3896His) c.11683T>C (p.Tyr3895His) c.310T>C c.5070T>C c.11668T>C (p.Tyr3890His) c.11698T>C (p.Tyr3900His) | |
19 | g.38543358T>G | CA405661114 | RYR1 | c.111T>G c.93T>G c.11701T>G (p.Tyr3901Asp) c.11686T>G (p.Tyr3896Asp) c.11683T>G (p.Tyr3895Asp) c.310T>G c.5070T>G c.11668T>G (p.Tyr3890Asp) c.11698T>G (p.Tyr3900Asp) | |
19 | g.38543359A>C | CA405661116 | RYR1 | c.112A>C c.94A>C c.11702A>C (p.Tyr3901Ser) c.11687A>C (p.Tyr3896Ser) c.11684A>C (p.Tyr3895Ser) c.311A>C c.5071A>C c.11669A>C (p.Tyr3890Ser) c.11699A>C (p.Tyr3900Ser) | |
19 | g.38543359A>G | CA405661118 | RYR1 | c.112A>G c.94A>G c.11702A>G (p.Tyr3901Cys) c.11687A>G (p.Tyr3896Cys) c.11684A>G (p.Tyr3895Cys) c.311A>G c.5071A>G c.11669A>G (p.Tyr3890Cys) c.11699A>G (p.Tyr3900Cys) | |
19 | g.38543359A>T | CA405661120 | RYR1 | c.112A>T c.94A>T c.11702A>T (p.Tyr3901Phe) c.11687A>T (p.Tyr3896Phe) c.11684A>T (p.Tyr3895Phe) c.311A>T c.5071A>T c.11669A>T (p.Tyr3890Phe) c.11699A>T (p.Tyr3900Phe) | |
19 | g.38543360C>A | CA405661122 | RYR1 | c.113C>A c.95C>A c.11703C>A (p.Tyr3901Ter) c.11688C>A (p.Tyr3896Ter) c.11685C>A (p.Tyr3895Ter) c.312C>A c.5072C>A c.11670C>A (p.Tyr3890Ter) c.11700C>A (p.Tyr3900Ter) | |
19 | g.38543360C= | CA2335074305 | RYR1 | c.113C= c.95C= c.11703C= (p.Tyr3901=) c.11688C= (p.Tyr3896=) c.11685C= (p.Tyr3895=) c.312C= c.5072C= c.11670C= (p.Tyr3890=) c.11700C= (p.Tyr3900=) | |
19 | g.38543360C>G | CA405661124 | RYR1 | c.113C>G c.95C>G c.11703C>G (p.Tyr3901Ter) c.11688C>G (p.Tyr3896Ter) c.11685C>G (p.Tyr3895Ter) c.312C>G c.5072C>G c.11670C>G (p.Tyr3890Ter) c.11700C>G (p.Tyr3900Ter) | |
19 | g.38543360C>T | CA507354583 | RYR1 | c.113C>T c.95C>T c.11703C>T (p.Tyr3901=) c.11688C>T (p.Tyr3896=) c.11685C>T (p.Tyr3895=) c.312C>T c.5072C>T c.11670C>T (p.Tyr3890=) c.11700C>T (p.Tyr3900=) | dbSNP |
19 | g.38543361C>A | CA405661127 | RYR1 | c.114C>A c.96C>A c.11704C>A (p.Leu3902Ile) c.11689C>A (p.Leu3897Ile) c.11686C>A (p.Leu3896Ile) c.313C>A c.5073C>A c.11671C>A (p.Leu3891Ile) c.11701C>A (p.Leu3901Ile) | |
19 | g.38543361C= | CA2335074306 | RYR1 | c.114C= c.96C= c.11704C= (p.Leu3902=) c.11689C= (p.Leu3897=) c.11686C= (p.Leu3896=) c.313C= c.5073C= c.11671C= (p.Leu3891=) c.11701C= (p.Leu3901=) | |
19 | g.38543361C>G | CA405661129 | RYR1 | c.114C>G c.96C>G c.11704C>G (p.Leu3902Val) c.11689C>G (p.Leu3897Val) c.11686C>G (p.Leu3896Val) c.313C>G c.5073C>G c.11671C>G (p.Leu3891Val) c.11701C>G (p.Leu3901Val) | dbSNP COSMIC |
19 | g.38543361C>T | CA507354586 | RYR1 | c.114C>T c.96C>T c.11704C>T (p.Leu3902=) c.11689C>T (p.Leu3897=) c.11686C>T (p.Leu3896=) c.313C>T c.5073C>T c.11671C>T (p.Leu3891=) c.11701C>T (p.Leu3901=) | ClinVar dbSNP |
19 | g.38543362T>A | CA405661135 | RYR1 | c.115T>A c.97T>A c.11705T>A (p.Leu3902Gln) c.11690T>A (p.Leu3897Gln) c.11687T>A (p.Leu3896Gln) c.314T>A c.5074T>A c.11672T>A (p.Leu3891Gln) c.11702T>A (p.Leu3901Gln) | |
19 | g.38543362T>C | CA405661133 | RYR1 | c.115T>C c.97T>C c.11705T>C (p.Leu3902Pro) c.11690T>C (p.Leu3897Pro) c.11687T>C (p.Leu3896Pro) c.314T>C c.5074T>C c.11672T>C (p.Leu3891Pro) c.11702T>C (p.Leu3901Pro) | |
19 | g.38543362T>G | CA405661131 | RYR1 | c.115T>G c.97T>G c.11705T>G (p.Leu3902Arg) c.11690T>G (p.Leu3897Arg) c.11687T>G (p.Leu3896Arg) c.314T>G c.5074T>G c.11672T>G (p.Leu3891Arg) c.11702T>G (p.Leu3901Arg) | |
19 | g.38543363A= | CA2335074307 | RYR1 | c.116A= c.98A= c.11706A= (p.Leu3902=) c.11691A= (p.Leu3897=) c.11688A= (p.Leu3896=) c.315A= c.5075A= c.11673A= (p.Leu3891=) c.11703A= (p.Leu3901=) | |
19 | g.38543363A>C | CA507354590 | RYR1 | c.116A>C c.98A>C c.11706A>C (p.Leu3902=) c.11691A>C (p.Leu3897=) c.11688A>C (p.Leu3896=) c.315A>C c.5075A>C c.11673A>C (p.Leu3891=) c.11703A>C (p.Leu3901=) | |
19 | g.38543363A>G | CA057532 | RYR1 | c.116A>G c.98A>G c.11706A>G (p.Leu3902=) c.11691A>G (p.Leu3897=) c.11688A>G (p.Leu3896=) c.315A>G c.5075A>G c.11673A>G (p.Leu3891=) c.11703A>G (p.Leu3901=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38543363A>T | CA507354591 | RYR1 | c.116A>T c.98A>T c.11706A>T (p.Leu3902=) c.11691A>T (p.Leu3897=) c.11688A>T (p.Leu3896=) c.315A>T c.5075A>T c.11673A>T (p.Leu3891=) c.11703A>T (p.Leu3901=) | |
19 | g.38543364C>A | CA507354592 | RYR1 | c.117C>A c.99C>A c.11707C>A (p.Arg3903=) c.11692C>A (p.Arg3898=) c.11689C>A (p.Arg3897=) c.316C>A c.5076C>A c.11674C>A (p.Arg3892=) c.11704C>A (p.Arg3902=) | gnomAD v4 |
19 | g.38543364C= | CA2335074308 | RYR1 | c.117C= c.99C= c.11707C= (p.Arg3903=) c.11692C= (p.Arg3898=) c.11689C= (p.Arg3897=) c.316C= c.5076C= c.11674C= (p.Arg3892=) c.11704C= (p.Arg3902=) | |
19 | g.38543364C>G | CA405661137 | RYR1 | c.117C>G c.99C>G c.11707C>G (p.Arg3903Gly) c.11692C>G (p.Arg3898Gly) c.11689C>G (p.Arg3897Gly) c.316C>G c.5076C>G c.11674C>G (p.Arg3892Gly) c.11704C>G (p.Arg3902Gly) | |
19 | g.38543364C>T | CA405661138 | RYR1 | c.117C>T c.99C>T c.11707C>T (p.Arg3903Trp) c.11692C>T (p.Arg3898Trp) c.11689C>T (p.Arg3897Trp) c.316C>T c.5076C>T c.11674C>T (p.Arg3892Trp) c.11704C>T (p.Arg3902Trp) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.38543365G>A | CA023926 | RYR1 | c.118G>A c.100G>A c.11708G>A (p.Arg3903Gln) c.11693G>A (p.Arg3898Gln) c.11690G>A (p.Arg3897Gln) c.317G>A c.5077G>A c.11675G>A (p.Arg3892Gln) c.11705G>A (p.Arg3902Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38543365G>C | CA405661141 | RYR1 | c.118G>C c.100G>C c.11708G>C (p.Arg3903Pro) c.11693G>C (p.Arg3898Pro) c.11690G>C (p.Arg3897Pro) c.317G>C c.5077G>C c.11675G>C (p.Arg3892Pro) c.11705G>C (p.Arg3902Pro) | ClinVar |
19 | g.38543365G= | CA2335074309 | RYR1 | c.118G= c.100G= c.11708G= (p.Arg3903=) c.11693G= (p.Arg3898=) c.11690G= (p.Arg3897=) c.317G= c.5077G= c.11675G= (p.Arg3892=) c.11705G= (p.Arg3902=) | |
19 | g.38543365G>T | CA405661143 | RYR1 | c.118G>T c.100G>T c.11708G>T (p.Arg3903Leu) c.11693G>T (p.Arg3898Leu) c.11690G>T (p.Arg3897Leu) c.317G>T c.5077G>T c.11675G>T (p.Arg3892Leu) c.11705G>T (p.Arg3902Leu) | ClinVar gnomAD v4 |
19 | g.38543366G>A | CA507354594 | RYR1 | c.119G>A c.101G>A c.11709G>A (p.Arg3903=) c.11694G>A (p.Arg3898=) c.11691G>A (p.Arg3897=) c.318G>A c.5078G>A c.11676G>A (p.Arg3892=) c.11706G>A (p.Arg3902=) | COSMIC |
19 | g.38543366G>C | CA507354595 | RYR1 | c.119G>C c.101G>C c.11709G>C (p.Arg3903=) c.11694G>C (p.Arg3898=) c.11691G>C (p.Arg3897=) c.318G>C c.5078G>C c.11676G>C (p.Arg3892=) c.11706G>C (p.Arg3902=) | |
19 | g.38543366G>T | CA507354596 | RYR1 | c.119G>T c.101G>T c.11709G>T (p.Arg3903=) c.11694G>T (p.Arg3898=) c.11691G>T (p.Arg3897=) c.318G>T c.5078G>T c.11676G>T (p.Arg3892=) c.11706G>T (p.Arg3902=) | |
19 | g.38543367A>C | CA405661145 | RYR1 | c.120A>C c.102A>C c.11710A>C (p.Thr3904Pro) c.11695A>C (p.Thr3899Pro) c.11692A>C (p.Thr3898Pro) c.319A>C c.5079A>C c.11677A>C (p.Thr3893Pro) c.11707A>C (p.Thr3903Pro) | |
19 | g.38543367A>G | CA405661147 | RYR1 | c.120A>G c.102A>G c.11710A>G (p.Thr3904Ala) c.11695A>G (p.Thr3899Ala) c.11692A>G (p.Thr3898Ala) c.319A>G c.5079A>G c.11677A>G (p.Thr3893Ala) c.11707A>G (p.Thr3903Ala) | |
19 | g.38543367A>T | CA405661149 | RYR1 | c.120A>T c.102A>T c.11710A>T (p.Thr3904Ser) c.11695A>T (p.Thr3899Ser) c.11692A>T (p.Thr3898Ser) c.319A>T c.5079A>T c.11677A>T (p.Thr3893Ser) c.11707A>T (p.Thr3903Ser) | |
19 | g.38543368C>A | CA405661152 | RYR1 | c.121C>A c.103C>A c.11711C>A (p.Thr3904Lys) c.11696C>A (p.Thr3899Lys) c.11693C>A (p.Thr3898Lys) c.320C>A c.5080C>A c.11678C>A (p.Thr3893Lys) c.11708C>A (p.Thr3903Lys) | |
19 | g.38543368C>G | CA405661154 | RYR1 | c.121C>G c.103C>G c.11711C>G (p.Thr3904Arg) c.11696C>G (p.Thr3899Arg) c.11693C>G (p.Thr3898Arg) c.320C>G c.5080C>G c.11678C>G (p.Thr3893Arg) c.11708C>G (p.Thr3903Arg) | |
19 | g.38543368C>T | CA405661155 | RYR1 | c.121C>T c.103C>T c.11711C>T (p.Thr3904Ile) c.11696C>T (p.Thr3899Ile) c.11693C>T (p.Thr3898Ile) c.320C>T c.5080C>T c.11678C>T (p.Thr3893Ile) c.11708C>T (p.Thr3903Ile) | gnomAD v4 |
19 | g.38543369A= | CA2335074310 | RYR1 | c.122A= c.104A= c.11712A= (p.Thr3904=) c.11697A= (p.Thr3899=) c.11694A= (p.Thr3898=) c.321A= c.5081A= c.11679A= (p.Thr3893=) c.11709A= (p.Thr3903=) | |
19 | g.38543369A>C | CA507354602 | RYR1 | c.122A>C c.104A>C c.11712A>C (p.Thr3904=) c.11697A>C (p.Thr3899=) c.11694A>C (p.Thr3898=) c.321A>C c.5081A>C c.11679A>C (p.Thr3893=) c.11709A>C (p.Thr3903=) | |
19 | g.38543369A>G | CA057538 | RYR1 | c.122A>G c.104A>G c.11712A>G (p.Thr3904=) c.11697A>G (p.Thr3899=) c.11694A>G (p.Thr3898=) c.321A>G c.5081A>G c.11679A>G (p.Thr3893=) c.11709A>G (p.Thr3903=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38543369A>T | CA507354603 | RYR1 | c.122A>T c.104A>T c.11712A>T (p.Thr3904=) c.11697A>T (p.Thr3899=) c.11694A>T (p.Thr3898=) c.321A>T c.5081A>T c.11679A>T (p.Thr3893=) c.11709A>T (p.Thr3903=) | |
19 | g.38543373_38543376del | CA2584908082 | RYR1 | c.126_129del c.108_111del c.11716_11719del (p.Thr3906GlyfsTer?) c.11701_11704del (p.Thr3901GlyfsTer?) c.11698_11701del (p.Thr3900GlyfsTer?) c.325_328del c.5085_5088del c.11683_11686del (p.Thr3895GlyfsTer?) c.11713_11716del (p.Thr3905GlyfsTer?) | gnomAD v4 |
19 | g.38543370C>A | CA405661163 | RYR1 | c.123C>A c.105C>A c.11713C>A (p.Gln3905Lys) c.11698C>A (p.Gln3900Lys) c.11695C>A (p.Gln3899Lys) c.322C>A c.5082C>A c.11680C>A (p.Gln3894Lys) c.11710C>A (p.Gln3904Lys) | |
19 | g.38543370C>G | CA405661161 | RYR1 | c.123C>G c.105C>G c.11713C>G (p.Gln3905Glu) c.11698C>G (p.Gln3900Glu) c.11695C>G (p.Gln3899Glu) c.322C>G c.5082C>G c.11680C>G (p.Gln3894Glu) c.11710C>G (p.Gln3904Glu) | gnomAD v4 |
19 | g.38543370C>T | CA405661159 | RYR1 | c.123C>T c.105C>T c.11713C>T (p.Gln3905Ter) c.11698C>T (p.Gln3900Ter) c.11695C>T (p.Gln3899Ter) c.322C>T c.5082C>T c.11680C>T (p.Gln3894Ter) c.11710C>T (p.Gln3904Ter) | gnomAD v4 |
19 | g.38543371A>C | CA405661165 | RYR1 | c.124A>C c.106A>C c.11714A>C (p.Gln3905Pro) c.11699A>C (p.Gln3900Pro) c.11696A>C (p.Gln3899Pro) c.323A>C c.5083A>C c.11681A>C (p.Gln3894Pro) c.11711A>C (p.Gln3904Pro) | COSMIC |
19 | g.38543371A>G | CA405661167 | RYR1 | c.124A>G c.106A>G c.11714A>G (p.Gln3905Arg) c.11699A>G (p.Gln3900Arg) c.11696A>G (p.Gln3899Arg) c.323A>G c.5083A>G c.11681A>G (p.Gln3894Arg) c.11711A>G (p.Gln3904Arg) | |
19 | g.38543371A>T | CA405661169 | RYR1 | c.124A>T c.106A>T c.11714A>T (p.Gln3905Leu) c.11699A>T (p.Gln3900Leu) c.11696A>T (p.Gln3899Leu) c.323A>T c.5083A>T c.11681A>T (p.Gln3894Leu) c.11711A>T (p.Gln3904Leu) | |
19 | g.38543372G>A | CA308091978 | RYR1 | c.125G>A c.107G>A c.11715G>A (p.Gln3905=) c.11700G>A (p.Gln3900=) c.11697G>A (p.Gln3899=) c.324G>A c.5084G>A c.11682G>A (p.Gln3894=) c.11712G>A (p.Gln3904=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38543372G>C | CA405661171 | RYR1 | c.125G>C c.107G>C c.11715G>C (p.Gln3905His) c.11700G>C (p.Gln3900His) c.11697G>C (p.Gln3899His) c.324G>C c.5084G>C c.11682G>C (p.Gln3894His) c.11712G>C (p.Gln3904His) | ClinVar |
19 | g.38543372G= | CA2335074311 | RYR1 | c.125G= c.107G= c.11715G= (p.Gln3905=) c.11700G= (p.Gln3900=) c.11697G= (p.Gln3899=) c.324G= c.5084G= c.11682G= (p.Gln3894=) c.11712G= (p.Gln3904=) | |
19 | g.38543372G>T | CA405661173 | RYR1 | c.125G>T c.107G>T c.11715G>T (p.Gln3905His) c.11700G>T (p.Gln3900His) c.11697G>T (p.Gln3899His) c.324G>T c.5084G>T c.11682G>T (p.Gln3894His) c.11712G>T (p.Gln3904His) | COSMIC |
19 | g.38543373A= | CA2335074312 | RYR1 | c.126A= c.108A= c.11716A= (p.Thr3906=) c.11701A= (p.Thr3901=) c.11698A= (p.Thr3900=) c.325A= c.5085A= c.11683A= (p.Thr3895=) c.11713A= (p.Thr3905=) | |
19 | g.38543373A>C | CA405661176 | RYR1 | c.126A>C c.108A>C c.11716A>C (p.Thr3906Pro) c.11701A>C (p.Thr3901Pro) c.11698A>C (p.Thr3900Pro) c.325A>C c.5085A>C c.11683A>C (p.Thr3895Pro) c.11713A>C (p.Thr3905Pro) | |
19 | g.38543373A>G | CA405661177 | RYR1 | c.126A>G c.108A>G c.11716A>G (p.Thr3906Ala) c.11701A>G (p.Thr3901Ala) c.11698A>G (p.Thr3900Ala) c.325A>G c.5085A>G c.11683A>G (p.Thr3895Ala) c.11713A>G (p.Thr3905Ala) | COSMIC |
19 | g.38543373A>T | CA405661179 | RYR1 | c.126A>T c.108A>T c.11716A>T (p.Thr3906Ser) c.11701A>T (p.Thr3901Ser) c.11698A>T (p.Thr3900Ser) c.325A>T c.5085A>T c.11683A>T (p.Thr3895Ser) c.11713A>T (p.Thr3905Ser) | ClinVar dbSNP gnomAD v4 |
19 | g.38543374C>A | CA405661182 | RYR1 | c.127C>A c.109C>A c.11717C>A (p.Thr3906Lys) c.11702C>A (p.Thr3901Lys) c.11699C>A (p.Thr3900Lys) c.326C>A c.5086C>A c.11684C>A (p.Thr3895Lys) c.11714C>A (p.Thr3905Lys) | |
19 | g.38543374C>G | CA405661183 | RYR1 | c.127C>G c.109C>G c.11717C>G (p.Thr3906Arg) c.11702C>G (p.Thr3901Arg) c.11699C>G (p.Thr3900Arg) c.326C>G c.5086C>G c.11684C>G (p.Thr3895Arg) c.11714C>G (p.Thr3905Arg) | |
19 | g.38543374C>T | CA405661185 | RYR1 | c.127C>T c.109C>T c.11717C>T (p.Thr3906Ile) c.11702C>T (p.Thr3901Ile) c.11699C>T (p.Thr3900Ile) c.326C>T c.5086C>T c.11684C>T (p.Thr3895Ile) c.11714C>T (p.Thr3905Ile) | gnomAD v4 COSMIC |
19 | g.38543375A>C | CA507354609 | RYR1 | c.128A>C c.110A>C c.11718A>C (p.Thr3906=) c.11703A>C (p.Thr3901=) c.11700A>C (p.Thr3900=) c.327A>C c.5087A>C c.11685A>C (p.Thr3895=) c.11715A>C (p.Thr3905=) | |
19 | g.38543375A>G | CA507354610 | RYR1 | c.128A>G c.110A>G c.11718A>G (p.Thr3906=) c.11703A>G (p.Thr3901=) c.11700A>G (p.Thr3900=) c.327A>G c.5087A>G c.11685A>G (p.Thr3895=) c.11715A>G (p.Thr3905=) | gnomAD v4 |
19 | g.38543375A>T | CA507354611 | RYR1 | c.128A>T c.110A>T c.11718A>T (p.Thr3906=) c.11703A>T (p.Thr3901=) c.11700A>T (p.Thr3900=) c.327A>T c.5087A>T c.11685A>T (p.Thr3895=) c.11715A>T (p.Thr3905=) | |
19 | g.38543376G>A | CA080389 | RYR1 | c.129G>A c.111G>A c.11719G>A (p.Gly3907Arg) c.11704G>A (p.Gly3902Arg) c.11701G>A (p.Gly3901Arg) c.328G>A c.5088G>A c.11686G>A (p.Gly3896Arg) c.11716G>A (p.Gly3906Arg) | |
19 | g.38543376G>C | CA405661188 | RYR1 | c.129G>C c.111G>C c.11719G>C (p.Gly3907Arg) c.11704G>C (p.Gly3902Arg) c.11701G>C (p.Gly3901Arg) c.328G>C c.5088G>C c.11686G>C (p.Gly3896Arg) c.11716G>C (p.Gly3906Arg) | |
19 | g.38543376G>T | CA405661189 | RYR1 | c.129G>T c.111G>T c.11719G>T (p.Gly3907Trp) c.11704G>T (p.Gly3902Trp) c.11701G>T (p.Gly3901Trp) c.328G>T c.5088G>T c.11686G>T (p.Gly3896Trp) c.11716G>T (p.Gly3906Trp) | |
19 | g.38543377G>A | CA405661193 | RYR1 | c.130G>A c.112G>A c.11720G>A (p.Gly3907Glu) c.11705G>A (p.Gly3902Glu) c.11702G>A (p.Gly3901Glu) c.329G>A c.5089G>A c.11687G>A (p.Gly3896Glu) c.11717G>A (p.Gly3906Glu) | |
19 | g.38543377G>C | CA405661194 | RYR1 | c.130G>C c.112G>C c.11720G>C (p.Gly3907Ala) c.11705G>C (p.Gly3902Ala) c.11702G>C (p.Gly3901Ala) c.329G>C c.5089G>C c.11687G>C (p.Gly3896Ala) c.11717G>C (p.Gly3906Ala) | |
19 | g.38543377G>T | CA405661191 | RYR1 | c.130G>T c.112G>T c.11720G>T (p.Gly3907Val) c.11705G>T (p.Gly3902Val) c.11702G>T (p.Gly3901Val) c.329G>T c.5089G>T c.11687G>T (p.Gly3896Val) c.11717G>T (p.Gly3906Val) | |
19 | g.38543378G>A | CA507354613 | RYR1 | c.131G>A c.113G>A c.11721G>A (p.Gly3907=) c.11706G>A (p.Gly3902=) c.11703G>A (p.Gly3901=) c.330G>A c.5090G>A c.11688G>A (p.Gly3896=) c.11718G>A (p.Gly3906=) | |
19 | g.38543378G>C | CA507354615 | RYR1 | c.131G>C c.113G>C c.11721G>C (p.Gly3907=) c.11706G>C (p.Gly3902=) c.11703G>C (p.Gly3901=) c.330G>C c.5090G>C c.11688G>C (p.Gly3896=) c.11718G>C (p.Gly3906=) | |
19 | g.38543378G>T | CA507354614 | RYR1 | c.131G>T c.113G>T c.11721G>T (p.Gly3907=) c.11706G>T (p.Gly3902=) c.11703G>T (p.Gly3901=) c.330G>T c.5090G>T c.11688G>T (p.Gly3896=) c.11718G>T (p.Gly3906=) | |
19 | g.38543379A>C | CA405661196 | RYR1 | c.132A>C c.114A>C c.11722A>C (p.Asn3908His) c.11707A>C (p.Asn3903His) c.11704A>C (p.Asn3902His) c.331A>C c.5091A>C c.11689A>C (p.Asn3897His) c.11719A>C (p.Asn3907His) | |
19 | g.38543379A>G | CA405661198 | RYR1 | c.132A>G c.114A>G c.11722A>G (p.Asn3908Asp) c.11707A>G (p.Asn3903Asp) c.11704A>G (p.Asn3902Asp) c.331A>G c.5091A>G c.11689A>G (p.Asn3897Asp) c.11719A>G (p.Asn3907Asp) | |
19 | g.38543379A>T | CA405661200 | RYR1 | c.132A>T c.114A>T c.11722A>T (p.Asn3908Tyr) c.11707A>T (p.Asn3903Tyr) c.11704A>T (p.Asn3902Tyr) c.331A>T c.5091A>T c.11689A>T (p.Asn3897Tyr) c.11719A>T (p.Asn3907Tyr) | |
19 | g.38543380A= | CA2335074313 | RYR1 | c.133A= c.115A= c.11723A= (p.Asn3908=) c.11708A= (p.Asn3903=) c.11705A= (p.Asn3902=) c.332A= c.5092A= c.11690A= (p.Asn3897=) c.11720A= (p.Asn3907=) | |
19 | g.38543380A>C | CA405661201 | RYR1 | c.133A>C c.115A>C c.11723A>C (p.Asn3908Thr) c.11708A>C (p.Asn3903Thr) c.11705A>C (p.Asn3902Thr) c.332A>C c.5092A>C c.11690A>C (p.Asn3897Thr) c.11720A>C (p.Asn3907Thr) | |
19 | g.38543380A>G | CA057545 | RYR1 | c.133A>G c.115A>G c.11723A>G (p.Asn3908Ser) c.11708A>G (p.Asn3903Ser) c.11705A>G (p.Asn3902Ser) c.332A>G c.5092A>G c.11690A>G (p.Asn3897Ser) c.11720A>G (p.Asn3907Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38543380A>T | CA405661203 | RYR1 | c.133A>T c.115A>T c.11723A>T (p.Asn3908Ile) c.11708A>T (p.Asn3903Ile) c.11705A>T (p.Asn3902Ile) c.332A>T c.5092A>T c.11690A>T (p.Asn3897Ile) c.11720A>T (p.Asn3907Ile) | ClinVar dbSNP gnomAD v4 |
19 | g.38543381C>A | CA405661204 | RYR1 | c.134C>A c.116C>A c.11724C>A (p.Asn3908Lys) c.11709C>A (p.Asn3903Lys) c.11706C>A (p.Asn3902Lys) c.333C>A c.5093C>A c.11691C>A (p.Asn3897Lys) c.11721C>A (p.Asn3907Lys) | |
19 | g.38543381C= | CA2335074314 | RYR1 | c.134C= c.116C= c.11724C= (p.Asn3908=) c.11709C= (p.Asn3903=) c.11706C= (p.Asn3902=) c.333C= c.5093C= c.11691C= (p.Asn3897=) c.11721C= (p.Asn3907=) | |
19 | g.38543381C>G | CA405661206 | RYR1 | c.134C>G c.116C>G c.11724C>G (p.Asn3908Lys) c.11709C>G (p.Asn3903Lys) c.11706C>G (p.Asn3902Lys) c.333C>G c.5093C>G c.11691C>G (p.Asn3897Lys) c.11721C>G (p.Asn3907Lys) | |
19 | g.38543381C>T | CA308091985 | RYR1 | c.134C>T c.116C>T c.11724C>T (p.Asn3908=) c.11709C>T (p.Asn3903=) c.11706C>T (p.Asn3902=) c.333C>T c.5093C>T c.11691C>T (p.Asn3897=) c.11721C>T (p.Asn3907=) | dbSNP gnomAD v4 |
19 | g.38543382A>C | CA405661207 | RYR1 | c.135A>C c.117A>C c.11725A>C (p.Thr3909Pro) c.11710A>C (p.Thr3904Pro) c.11707A>C (p.Thr3903Pro) c.334A>C c.5094A>C c.11692A>C (p.Thr3898Pro) c.11722A>C (p.Thr3908Pro) | gnomAD v4 |
19 | g.38543382A>G | CA405661208 | RYR1 | c.135A>G c.117A>G c.11725A>G (p.Thr3909Ala) c.11710A>G (p.Thr3904Ala) c.11707A>G (p.Thr3903Ala) c.334A>G c.5094A>G c.11692A>G (p.Thr3898Ala) c.11722A>G (p.Thr3908Ala) | |
19 | g.38543382A>T | CA405661210 | RYR1 | c.135A>T c.117A>T c.11725A>T (p.Thr3909Ser) c.11710A>T (p.Thr3904Ser) c.11707A>T (p.Thr3903Ser) c.334A>T c.5094A>T c.11692A>T (p.Thr3898Ser) c.11722A>T (p.Thr3908Ser) | |
19 | g.38543383C>A | CA405661214 | RYR1 | c.136C>A c.118C>A c.11726C>A (p.Thr3909Lys) c.11711C>A (p.Thr3904Lys) c.11708C>A (p.Thr3903Lys) c.335C>A c.5095C>A c.11693C>A (p.Thr3898Lys) c.11723C>A (p.Thr3908Lys) | COSMIC |
19 | g.38543383C= | CA2335074315 | RYR1 | c.136C= c.118C= c.11726C= (p.Thr3909=) c.11711C= (p.Thr3904=) c.11708C= (p.Thr3903=) c.335C= c.5095C= c.11693C= (p.Thr3898=) c.11723C= (p.Thr3908=) | |
19 | g.38543383C>G | CA405661212 | RYR1 | c.136C>G c.118C>G c.11726C>G (p.Thr3909Arg) c.11711C>G (p.Thr3904Arg) c.11708C>G (p.Thr3903Arg) c.335C>G c.5095C>G c.11693C>G (p.Thr3898Arg) c.11723C>G (p.Thr3908Arg) | gnomAD v4 |
19 | g.38543383C>T | CA057550 | RYR1 | c.136C>T c.118C>T c.11726C>T (p.Thr3909Met) c.11711C>T (p.Thr3904Met) c.11708C>T (p.Thr3903Met) c.335C>T c.5095C>T c.11693C>T (p.Thr3898Met) c.11723C>T (p.Thr3908Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38543384G>A | CA057557 | RYR1 | c.137G>A c.119G>A c.11727G>A (p.Thr3909=) c.11712G>A (p.Thr3904=) c.11709G>A (p.Thr3903=) c.336G>A c.5096G>A c.11694G>A (p.Thr3898=) c.11724G>A (p.Thr3908=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38543384G>C | CA507354623 | RYR1 | c.137G>C c.119G>C c.11727G>C (p.Thr3909=) c.11712G>C (p.Thr3904=) c.11709G>C (p.Thr3903=) c.336G>C c.5096G>C c.11694G>C (p.Thr3898=) c.11724G>C (p.Thr3908=) | |
19 | g.38543384G= | CA2335074316 | RYR1 | c.137G= c.119G= c.11727G= (p.Thr3909=) c.11712G= (p.Thr3904=) c.11709G= (p.Thr3903=) c.336G= c.5096G= c.11694G= (p.Thr3898=) c.11724G= (p.Thr3908=) | |
19 | g.38543384G>T | CA080391 | RYR1 | c.137G>T c.119G>T c.11727G>T (p.Thr3909=) c.11712G>T (p.Thr3904=) c.11709G>T (p.Thr3903=) c.336G>T c.5096G>T c.11694G>T (p.Thr3898=) c.11724G>T (p.Thr3908=) | gnomAD v4 |
19 | g.38543385A>C | CA080392 | RYR1 | c.138A>C c.120A>C c.11728A>C (p.Thr3910Pro) c.11713A>C (p.Thr3905Pro) c.11710A>C (p.Thr3904Pro) c.337A>C c.5097A>C c.11695A>C (p.Thr3899Pro) c.11725A>C (p.Thr3909Pro) | |
19 | g.38543385A>G | CA405661218 | RYR1 | c.138A>G c.120A>G c.11728A>G (p.Thr3910Ala) c.11713A>G (p.Thr3905Ala) c.11710A>G (p.Thr3904Ala) c.337A>G c.5097A>G c.11695A>G (p.Thr3899Ala) c.11725A>G (p.Thr3909Ala) | |
19 | g.38543385A>T | CA405661220 | RYR1 | c.138A>T c.120A>T c.11728A>T (p.Thr3910Ser) c.11713A>T (p.Thr3905Ser) c.11710A>T (p.Thr3904Ser) c.337A>T c.5097A>T c.11695A>T (p.Thr3899Ser) c.11725A>T (p.Thr3909Ser) | |
19 | g.38543386C>A | CA405661222 | RYR1 | c.139C>A c.121C>A c.11729C>A (p.Thr3910Asn) c.11714C>A (p.Thr3905Asn) c.11711C>A (p.Thr3904Asn) c.338C>A c.5098C>A c.11696C>A (p.Thr3899Asn) c.11726C>A (p.Thr3909Asn) | |
19 | g.38543386C>G | CA405661224 | RYR1 | c.139C>G c.121C>G c.11729C>G (p.Thr3910Ser) c.11714C>G (p.Thr3905Ser) c.11711C>G (p.Thr3904Ser) c.338C>G c.5098C>G c.11696C>G (p.Thr3899Ser) c.11726C>G (p.Thr3909Ser) | |
19 | g.38543386C>T | CA080414 | RYR1 | c.139C>T c.121C>T c.11729C>T (p.Thr3910Ile) c.11714C>T (p.Thr3905Ile) c.11711C>T (p.Thr3904Ile) c.338C>T c.5098C>T c.11696C>T (p.Thr3899Ile) c.11726C>T (p.Thr3909Ile) | |
19 | g.38543387C>A | CA507354629 | RYR1 | c.140C>A c.122C>A c.11730C>A (p.Thr3910=) c.11715C>A (p.Thr3905=) c.11712C>A (p.Thr3904=) c.339C>A c.5099C>A c.11697C>A (p.Thr3899=) c.11727C>A (p.Thr3909=) | |
19 | g.38543387C= | CA2335074317 | RYR1 | c.140C= c.122C= c.11730C= (p.Thr3910=) c.11715C= (p.Thr3905=) c.11712C= (p.Thr3904=) c.339C= c.5099C= c.11697C= (p.Thr3899=) c.11727C= (p.Thr3909=) | |
19 | g.38543387C>G | CA507354628 | RYR1 | c.140C>G c.122C>G c.11730C>G (p.Thr3910=) c.11715C>G (p.Thr3905=) c.11712C>G (p.Thr3904=) c.339C>G c.5099C>G c.11697C>G (p.Thr3899=) c.11727C>G (p.Thr3909=) | ClinVar |
19 | g.38543387C>T | CA507354627 | RYR1 | c.140C>T c.122C>T c.11730C>T (p.Thr3910=) c.11715C>T (p.Thr3905=) c.11712C>T (p.Thr3904=) c.339C>T c.5099C>T c.11697C>T (p.Thr3899=) c.11727C>T (p.Thr3909=) | dbSNP |
19 | g.38543388A= | CA2335074318 | RYR1 | c.141A= c.123A= c.11731A= (p.Thr3911=) c.11716A= (p.Thr3906=) c.11713A= (p.Thr3905=) c.340A= c.5100A= c.11698A= (p.Thr3900=) c.11728A= (p.Thr3910=) | |
19 | g.38543388A>C | CA405661226 | RYR1 | c.141A>C c.123A>C c.11731A>C (p.Thr3911Pro) c.11716A>C (p.Thr3906Pro) c.11713A>C (p.Thr3905Pro) c.340A>C c.5100A>C c.11698A>C (p.Thr3900Pro) c.11728A>C (p.Thr3910Pro) | gnomAD v4 |
19 | g.38543388A>G | CA057560 | RYR1 | c.141A>G c.123A>G c.11731A>G (p.Thr3911Ala) c.11716A>G (p.Thr3906Ala) c.11713A>G (p.Thr3905Ala) c.340A>G c.5100A>G c.11698A>G (p.Thr3900Ala) c.11728A>G (p.Thr3910Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38543388A>T | CA405661228 | RYR1 | c.141A>T c.123A>T c.11731A>T (p.Thr3911Ser) c.11716A>T (p.Thr3906Ser) c.11713A>T (p.Thr3905Ser) c.340A>T c.5100A>T c.11698A>T (p.Thr3900Ser) c.11728A>T (p.Thr3910Ser) | |
19 | g.38543389C>A | CA405661231 | RYR1 | c.142C>A c.124C>A c.11732C>A (p.Thr3911Asn) c.11717C>A (p.Thr3906Asn) c.11714C>A (p.Thr3905Asn) c.341C>A c.5101C>A c.11699C>A (p.Thr3900Asn) c.11729C>A (p.Thr3910Asn) | |
19 | g.38543389C>G | CA405661233 | RYR1 | c.142C>G c.124C>G c.11732C>G (p.Thr3911Ser) c.11717C>G (p.Thr3906Ser) c.11714C>G (p.Thr3905Ser) c.341C>G c.5101C>G c.11699C>G (p.Thr3900Ser) c.11729C>G (p.Thr3910Ser) | |
19 | g.38543389C>T | CA405661235 | RYR1 | c.142C>T c.124C>T c.11732C>T (p.Thr3911Ile) c.11717C>T (p.Thr3906Ile) c.11714C>T (p.Thr3905Ile) c.341C>T c.5101C>T c.11699C>T (p.Thr3900Ile) c.11729C>T (p.Thr3910Ile) | COSMIC |
19 | g.38543390T>A | CA507354630 | RYR1 | c.143T>A c.125T>A c.11733T>A (p.Thr3911=) c.11718T>A (p.Thr3906=) c.11715T>A (p.Thr3905=) c.342T>A c.5102T>A c.11700T>A (p.Thr3900=) c.11730T>A (p.Thr3910=) | |
19 | g.38543390T>C | CA507354632 | RYR1 | c.143T>C c.125T>C c.11733T>C (p.Thr3911=) c.11718T>C (p.Thr3906=) c.11715T>C (p.Thr3905=) c.342T>C c.5102T>C c.11700T>C (p.Thr3900=) c.11730T>C (p.Thr3910=) | |
19 | g.38543390T>G | CA507354633 | RYR1 | c.143T>G c.125T>G c.11733T>G (p.Thr3911=) c.11718T>G (p.Thr3906=) c.11715T>G (p.Thr3905=) c.342T>G c.5102T>G c.11700T>G (p.Thr3900=) c.11730T>G (p.Thr3910=) | gnomAD v4 |