Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.237566524C>T | CA2651201553 | RYR2 | c.3215-43C>T (n.3215-43C>T) c.3167-43C>T (n.3167-43C>T) c.3215-46C>T (n.3215-46C>T) n.3496-43C>T c.3194-43C>T (n.3194-43C>T) n.3529-43C>T | dbSNP gnomAD v4 |
1 | g.237566525T>A | CA2487391295 | RYR2 | c.3215-42T>A (n.3215-42T>A) c.3167-42T>A (n.3167-42T>A) c.3215-45T>A (n.3215-45T>A) n.3496-42T>A c.3194-42T>A (n.3194-42T>A) n.3529-42T>A | dbSNP |
1 | g.237566525T>C | CA2487391296 | RYR2 | c.3215-42T>C (n.3215-42T>C) c.3167-42T>C (n.3167-42T>C) c.3215-45T>C (n.3215-45T>C) n.3496-42T>C c.3194-42T>C (n.3194-42T>C) n.3529-42T>C | dbSNP |
1 | g.237566525T= | CA2487391294 | RYR2 | c.3215-42T= (n.3215-42T=) c.3167-42T= (n.3167-42T=) c.3215-45T= (n.3215-45T=) n.3496-42T= c.3194-42T= (n.3194-42T=) n.3529-42T= | |
1 | g.237566526C= | CA2487391297 | RYR2 | c.3215-41C= (n.3215-41C=) c.3167-41C= (n.3167-41C=) c.3215-44C= (n.3215-44C=) n.3496-41C= c.3194-41C= (n.3194-41C=) n.3529-41C= | |
1 | g.237566526C>G | CA086335 | RYR2 | c.3215-41C>G (n.3215-41C>G) c.3167-41C>G (n.3167-41C>G) c.3215-44C>G (n.3215-44C>G) n.3496-41C>G c.3194-41C>G (n.3194-41C>G) n.3529-41C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.237566526C>T | CA2651201554 | RYR2 | c.3215-41C>T (n.3215-41C>T) c.3167-41C>T (n.3167-41C>T) c.3215-44C>T (n.3215-44C>T) n.3496-41C>T c.3194-41C>T (n.3194-41C>T) n.3529-41C>T | gnomAD v4 |
1 | g.237566529del | CA2574453236 | RYR2 | c.3215-38del (n.3215-38del) c.3167-38del (n.3167-38del) c.3215-41del (n.3215-41del) n.3496-38del c.3194-38del (n.3194-38del) n.3529-38del | gnomAD v4 |
1 | g.237566527C>G | CA2651201555 | RYR2 | c.3215-40C>G (n.3215-40C>G) c.3167-40C>G (n.3167-40C>G) c.3215-43C>G (n.3215-43C>G) n.3496-40C>G c.3194-40C>G (n.3194-40C>G) n.3529-40C>G | gnomAD v4 |
1 | g.237566528C>A | CA2574453237 | RYR2 | c.3215-39C>A (n.3215-39C>A) c.3167-39C>A (n.3167-39C>A) c.3215-42C>A (n.3215-42C>A) n.3496-39C>A c.3194-39C>A (n.3194-39C>A) n.3529-39C>A | gnomAD v4 |
1 | g.237566528C= | CA2487391298 | RYR2 | c.3215-39C= (n.3215-39C=) c.3167-39C= (n.3167-39C=) c.3215-42C= (n.3215-42C=) n.3496-39C= c.3194-39C= (n.3194-39C=) n.3529-39C= | |
1 | g.237566528C>G | CA733318165 | RYR2 | c.3215-39C>G (n.3215-39C>G) c.3167-39C>G (n.3167-39C>G) c.3215-42C>G (n.3215-42C>G) n.3496-39C>G c.3194-39C>G (n.3194-39C>G) n.3529-39C>G | dbSNP |
1 | g.237566528C>T | CA529912697 | RYR2 | c.3215-39C>T (n.3215-39C>T) c.3167-39C>T (n.3167-39C>T) c.3215-42C>T (n.3215-42C>T) n.3496-39C>T c.3194-39C>T (n.3194-39C>T) n.3529-39C>T | dbSNP gnomAD v2 gnomAD v4 |
1 | g.237566529C>A | CA086334 | RYR2 | c.3215-38C>A (n.3215-38C>A) c.3167-38C>A (n.3167-38C>A) c.3215-41C>A (n.3215-41C>A) n.3496-38C>A c.3194-38C>A (n.3194-38C>A) n.3529-38C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.237566529C= | CA1143653237 | RYR2 | c.3215-38C= (n.3215-38C=) c.3167-38C= (n.3167-38C=) c.3215-41C= (n.3215-41C=) n.3496-38C= c.3194-38C= (n.3194-38C=) n.3529-38C= | |
1 | g.237566530A= | CA1143905203 | RYR2 | c.3215-37A= (n.3215-37A=) c.3167-37A= (n.3167-37A=) c.3215-40A= (n.3215-40A=) n.3496-37A= c.3194-37A= (n.3194-37A=) n.3529-37A= | |
1 | g.237566530A>C | CA086332 | RYR2 | c.3215-37A>C (n.3215-37A>C) c.3167-37A>C (n.3167-37A>C) c.3215-40A>C (n.3215-40A>C) n.3496-37A>C c.3194-37A>C (n.3194-37A>C) n.3529-37A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.237566530A>G | CA086333 | RYR2 | c.3215-37A>G (n.3215-37A>G) c.3167-37A>G (n.3167-37A>G) c.3215-40A>G (n.3215-40A>G) n.3496-37A>G c.3194-37A>G (n.3194-37A>G) n.3529-37A>G | dbSNP ExAC gnomAD v2 |
1 | g.237566532C>A | CA2651201556 | RYR2 | c.3215-35C>A (n.3215-35C>A) c.3167-35C>A (n.3167-35C>A) c.3215-38C>A (n.3215-38C>A) n.3496-35C>A c.3194-35C>A (n.3194-35C>A) n.3529-35C>A | gnomAD v4 |
1 | g.237566533C>T | CA2651201557 | RYR2 | c.3215-34C>T (n.3215-34C>T) c.3167-34C>T (n.3167-34C>T) c.3215-37C>T (n.3215-37C>T) n.3496-34C>T c.3194-34C>T (n.3194-34C>T) n.3529-34C>T | gnomAD v4 |
1 | g.237566536T>C | CA1013746950 | RYR2 | c.3215-31T>C (n.3215-31T>C) c.3167-31T>C (n.3167-31T>C) c.3215-34T>C (n.3215-34T>C) n.3496-31T>C c.3194-31T>C (n.3194-31T>C) n.3529-31T>C | gnomAD v3 gnomAD v4 |
1 | g.237566537G>T | CA2651201558 | RYR2 | c.3215-30G>T (n.3215-30G>T) c.3167-30G>T (n.3167-30G>T) c.3215-33G>T (n.3215-33G>T) n.3496-30G>T c.3194-30G>T (n.3194-30G>T) n.3529-30G>T | gnomAD v4 |
1 | g.237566538del | CA2651201559 | RYR2 | c.3215-29del (n.3215-29del) c.3167-29del (n.3167-29del) c.3215-32del (n.3215-32del) n.3496-29del c.3194-29del (n.3194-29del) n.3529-29del | gnomAD v4 |
1 | g.237566539C>T | CA2607444084 | RYR2 | c.3215-28C>T (n.3215-28C>T) c.3167-28C>T (n.3167-28C>T) c.3215-31C>T (n.3215-31C>T) n.3496-28C>T c.3194-28C>T (n.3194-28C>T) n.3529-28C>T | dbSNP gnomAD v3 gnomAD v4 |
1 | g.237566542C>A | CA2651201560 | RYR2 | c.3215-25C>A (n.3215-25C>A) c.3167-25C>A (n.3167-25C>A) c.3215-28C>A (n.3215-28C>A) n.3496-25C>A c.3194-25C>A (n.3194-25C>A) n.3529-25C>A | gnomAD v4 |
1 | g.237566543C>A | CA733318174 | RYR2 | c.3215-24C>A (n.3215-24C>A) c.3167-24C>A (n.3167-24C>A) c.3215-27C>A (n.3215-27C>A) n.3496-24C>A c.3194-24C>A (n.3194-24C>A) n.3529-24C>A | dbSNP gnomAD v4 |
1 | g.237566543C= | CA2487391299 | RYR2 | c.3215-24C= (n.3215-24C=) c.3167-24C= (n.3167-24C=) c.3215-27C= (n.3215-27C=) n.3496-24C= c.3194-24C= (n.3194-24C=) n.3529-24C= | |
1 | g.237566544A= | CA2487391300 | RYR2 | c.3215-23A= (n.3215-23A=) c.3167-23A= (n.3167-23A=) c.3215-26A= (n.3215-26A=) n.3496-23A= c.3194-23A= (n.3194-23A=) n.3529-23A= | |
1 | g.237566544A>G | CA529912698 | RYR2 | c.3215-23A>G (n.3215-23A>G) c.3167-23A>G (n.3167-23A>G) c.3215-26A>G (n.3215-26A>G) n.3496-23A>G c.3194-23A>G (n.3194-23A>G) n.3529-23A>G | dbSNP gnomAD v2 gnomAD v4 |
1 | g.237566552_237566553del | CA2580611241 | RYR2 | c.3215-15_3215-14del (n.3215-15_3215-14del) c.3167-15_3167-14del (n.3167-15_3167-14del) c.3215-18_3215-17del (n.3215-18_3215-17del) n.3496-15_3496-14del c.3194-15_3194-14del (n.3194-15_3194-14del) n.3529-15_3529-14del | ClinVar |
1 | g.237566550C>G | CA2651201561 | RYR2 | c.3215-17C>G (n.3215-17C>G) c.3167-17C>G (n.3167-17C>G) c.3215-20C>G (n.3215-20C>G) n.3496-17C>G c.3194-17C>G (n.3194-17C>G) n.3529-17C>G | gnomAD v4 |
1 | g.237566552C= | CA2487391301 | RYR2 | c.3215-15C= (n.3215-15C=) c.3167-15C= (n.3167-15C=) c.3215-18C= (n.3215-18C=) n.3496-15C= c.3194-15C= (n.3194-15C=) n.3529-15C= | |
1 | g.237566552C>T | CA086331 | RYR2 | c.3215-15C>T (n.3215-15C>T) c.3167-15C>T (n.3167-15C>T) c.3215-18C>T (n.3215-18C>T) n.3496-15C>T c.3194-15C>T (n.3194-15C>T) n.3529-15C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.237566553T>C | CA2573132988 | RYR2 | c.3215-14T>C (n.3215-14T>C) c.3167-14T>C (n.3167-14T>C) c.3215-17T>C (n.3215-17T>C) n.3496-14T>C c.3194-14T>C (n.3194-14T>C) n.3529-14T>C | ClinVar dbSNP |
1 | g.237566553T>G | CA913187663 | RYR2 | c.3215-14T>G (n.3215-14T>G) c.3167-14T>G (n.3167-14T>G) c.3215-17T>G (n.3215-17T>G) n.3496-14T>G c.3194-14T>G (n.3194-14T>G) n.3529-14T>G | ClinVar dbSNP gnomAD v4 |
1 | g.237566553T= | CA2487391302 | RYR2 | c.3215-14T= (n.3215-14T=) c.3167-14T= (n.3167-14T=) c.3215-17T= (n.3215-17T=) n.3496-14T= c.3194-14T= (n.3194-14T=) n.3529-14T= | |
1 | g.237566554G>C | CA2740092652 | RYR2 | c.3215-13G>C (n.3215-13G>C) c.3167-13G>C (n.3167-13G>C) c.3215-16G>C (n.3215-16G>C) n.3496-13G>C c.3194-13G>C (n.3194-13G>C) n.3529-13G>C | ClinVar |
1 | g.237566555T>G | CA2651201562 | RYR2 | c.3215-12T>G (n.3215-12T>G) c.3167-12T>G (n.3167-12T>G) c.3215-15T>G (n.3215-15T>G) n.3496-12T>G c.3194-12T>G (n.3194-12T>G) n.3529-12T>G | gnomAD v4 |
1 | g.237566556C>A | CA529912699 | RYR2 | c.3215-11C>A (n.3215-11C>A) c.3167-11C>A (n.3167-11C>A) c.3215-14C>A (n.3215-14C>A) n.3496-11C>A c.3194-11C>A (n.3194-11C>A) n.3529-11C>A | dbSNP gnomAD v2 gnomAD v4 |
1 | g.237566556C= | CA2487391303 | RYR2 | c.3215-11C= (n.3215-11C=) c.3167-11C= (n.3167-11C=) c.3215-14C= (n.3215-14C=) n.3496-11C= c.3194-11C= (n.3194-11C=) n.3529-11C= | |
1 | g.237566556C>G | CA2573132989 | RYR2 | c.3215-11C>G (n.3215-11C>G) c.3167-11C>G (n.3167-11C>G) c.3215-14C>G (n.3215-14C>G) n.3496-11C>G c.3194-11C>G (n.3194-11C>G) n.3529-11C>G | ClinVar dbSNP |
1 | g.237566558A= | CA2487391304 | RYR2 | c.3215-9A= (n.3215-9A=) c.3167-9A= (n.3167-9A=) c.3215-12A= (n.3215-12A=) n.3496-9A= c.3194-9A= (n.3194-9A=) n.3529-9A= | |
1 | g.237566558A>G | CA529912700 | RYR2 | c.3215-9A>G (n.3215-9A>G) c.3167-9A>G (n.3167-9A>G) c.3215-12A>G (n.3215-12A>G) n.3496-9A>G c.3194-9A>G (n.3194-9A>G) n.3529-9A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.237566560T>A | CA2574453238 | RYR2 | c.3215-7T>A (n.3215-7T>A) c.3167-7T>A (n.3167-7T>A) c.3215-10T>A (n.3215-10T>A) n.3496-7T>A c.3194-7T>A (n.3194-7T>A) n.3529-7T>A | |
1 | g.237566560T>C | CA086337 | RYR2 | c.3215-7T>C (n.3215-7T>C) c.3167-7T>C (n.3167-7T>C) c.3215-10T>C (n.3215-10T>C) n.3496-7T>C c.3194-7T>C (n.3194-7T>C) n.3529-7T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.237566560T= | CA2487391305 | RYR2 | c.3215-7T= (n.3215-7T=) c.3167-7T= (n.3167-7T=) c.3215-10T= (n.3215-10T=) n.3496-7T= c.3194-7T= (n.3194-7T=) n.3529-7T= | |
1 | g.237566562C>T | CA2739274061 | RYR2 | c.3215-5C>T (n.3215-5C>T) c.3167-5C>T (n.3167-5C>T) c.3215-8C>T (n.3215-8C>T) n.3496-5C>T c.3194-5C>T (n.3194-5C>T) n.3529-5C>T | ClinVar |
1 | g.237566563C>G | CA2697547730 | RYR2 | c.3215-4C>G (n.3215-4C>G) c.3167-4C>G (n.3167-4C>G) c.3215-7C>G (n.3215-7C>G) n.3496-4C>G c.3194-4C>G (n.3194-4C>G) n.3529-4C>G | ClinVar |
1 | g.237566563C>T | CA071324 | RYR2 | c.3215-4C>T (n.3215-4C>T) c.3167-4C>T (n.3167-4C>T) c.3215-7C>T (n.3215-7C>T) n.3496-4C>T c.3194-4C>T (n.3194-4C>T) n.3529-4C>T | COSMIC COSMIC |
1 | g.237566564C= | CA2487391307 | RYR2 | c.3215-3C= (n.3215-3C=) c.3167-3C= (n.3167-3C=) c.3215-6C= (n.3215-6C=) n.3496-3C= c.3194-3C= (n.3194-3C=) n.3529-3C= | |
1 | g.237566564C>T | CA2487391306 | RYR2 | c.3215-3C>T (n.3215-3C>T) c.3167-3C>T (n.3167-3C>T) c.3215-6C>T (n.3215-6C>T) n.3496-3C>T c.3194-3C>T (n.3194-3C>T) n.3529-3C>T | dbSNP |
1 | g.237566565A>C | CA345397782 | RYR2 | c.3215-2A>C (n.3215-2A>C) c.3167-2A>C (n.3167-2A>C) c.3215-5A>C (n.3215-5A>C) n.3496-2A>C c.3194-2A>C (n.3194-2A>C) n.3529-2A>C | |
1 | g.237566565A>G | CA345397784 | RYR2 | c.3215-2A>G (n.3215-2A>G) c.3167-2A>G (n.3167-2A>G) c.3215-5A>G (n.3215-5A>G) n.3496-2A>G c.3194-2A>G (n.3194-2A>G) n.3529-2A>G | |
1 | g.237566565A>T | CA345397785 | RYR2 | c.3215-2A>T (n.3215-2A>T) c.3167-2A>T (n.3167-2A>T) c.3215-5A>T (n.3215-5A>T) n.3496-2A>T c.3194-2A>T (n.3194-2A>T) n.3529-2A>T | |
1 | g.237566566G>A | CA345397789 | RYR2 | c.3215-1G>A (n.3215-1G>A) c.3167-1G>A (n.3167-1G>A) c.3215-4G>A (n.3215-4G>A) n.3496-1G>A c.3194-1G>A (n.3194-1G>A) n.3529-1G>A | |
1 | g.237566566G>C | CA345397792 | RYR2 | c.3215-1G>C (n.3215-1G>C) c.3167-1G>C (n.3167-1G>C) c.3215-4G>C (n.3215-4G>C) n.3496-1G>C c.3194-1G>C (n.3194-1G>C) n.3529-1G>C | |
1 | g.237566566G>T | CA345397790 | RYR2 | c.3215-1G>T (n.3215-1G>T) c.3167-1G>T (n.3167-1G>T) c.3215-4G>T (n.3215-4G>T) n.3496-1G>T c.3194-1G>T (n.3194-1G>T) n.3529-1G>T | |
1 | g.237566567C>A | CA345397794 | RYR2 | c.3215C>A (p.Ala1072Glu) c.3167C>A (p.Ala1056Glu) c.3215-3C>A (n.3215-3C>A) n.3496C>A c.3194C>A (p.Ala1065Glu) n.3529C>A | |
1 | g.237566567C= | CA2487391308 | RYR2 | c.3215C= (p.Ala1072=) c.3167C= (p.Ala1056=) c.3215-3C= (n.3215-3C=) n.3496C= c.3194C= (p.Ala1065=) n.3529C= | |
1 | g.237566567C>G | CA345397796 | RYR2 | c.3215C>G (p.Ala1072Gly) c.3167C>G (p.Ala1056Gly) c.3215-3C>G (n.3215-3C>G) n.3496C>G c.3194C>G (p.Ala1065Gly) n.3529C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.237566567C>T | CA345397798 | RYR2 | c.3215C>T (p.Ala1072Val) c.3167C>T (p.Ala1056Val) c.3215-3C>T (n.3215-3C>T) n.3496C>T c.3194C>T (p.Ala1065Val) n.3529C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.237566568A= | CA1143402989 | RYR2 | c.3216A= (p.Ala1072=) c.3168A= (p.Ala1056=) c.3215-2A= (n.3215-2A=) n.3497A= c.3195A= (p.Ala1065=) n.3530A= | |
1 | g.237566568A>C | CA423819078 | RYR2 | c.3216A>C (p.Ala1072=) c.3168A>C (p.Ala1056=) c.3215-2A>C (n.3215-2A>C) n.3497A>C c.3195A>C (p.Ala1065=) n.3530A>C | |
1 | g.237566568A>G | CA39822619 | RYR2 | c.3216A>G (p.Ala1072=) c.3168A>G (p.Ala1056=) c.3215-2A>G (n.3215-2A>G) n.3497A>G c.3195A>G (p.Ala1065=) n.3530A>G | dbSNP |
1 | g.237566568A>T | CA423819079 | RYR2 | c.3216A>T (p.Ala1072=) c.3168A>T (p.Ala1056=) c.3215-2A>T (n.3215-2A>T) n.3497A>T c.3195A>T (p.Ala1065=) n.3530A>T | |
1 | g.237566569G>A | CA345397801 | RYR2 | c.3217G>A (p.Ala1073Thr) c.3169G>A (p.Ala1057Thr) c.3215-1G>A (n.3215-1G>A) n.3498G>A c.3196G>A (p.Ala1066Thr) n.3531G>A | ClinVar dbSNP gnomAD v4 |
1 | g.237566569G>C | CA345397803 | RYR2 | c.3217G>C (p.Ala1073Pro) c.3169G>C (p.Ala1057Pro) c.3215-1G>C (n.3215-1G>C) n.3498G>C c.3196G>C (p.Ala1066Pro) n.3531G>C | |
1 | g.237566569G= | CA2487391309 | RYR2 | c.3217G= (p.Ala1073=) c.3169G= (p.Ala1057=) c.3215-1G= (n.3215-1G=) n.3498G= c.3196G= (p.Ala1066=) n.3531G= | |
1 | g.237566569G>T | CA345397804 | RYR2 | c.3217G>T (p.Ala1073Ser) c.3169G>T (p.Ala1057Ser) c.3215-1G>T (n.3215-1G>T) n.3498G>T c.3196G>T (p.Ala1066Ser) n.3531G>T | |
1 | g.237566570C>A | CA071233 | RYR2 | c.3218C>A (p.Ala1073Asp) c.3170C>A (p.Ala1057Asp) c.3215C>A (p.Ala1072Asp) n.3499C>A c.3197C>A (p.Ala1066Asp) n.3532C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.237566570C= | CA2487391310 | RYR2 | c.3218C= (p.Ala1073=) c.3170C= (p.Ala1057=) c.3215C= (p.Ala1072=) n.3499C= c.3197C= (p.Ala1066=) n.3532C= | |
1 | g.237566570C>G | CA345397807 | RYR2 | c.3218C>G (p.Ala1073Gly) c.3170C>G (p.Ala1057Gly) c.3215C>G (p.Ala1072Gly) n.3499C>G c.3197C>G (p.Ala1066Gly) n.3532C>G | |
1 | g.237566570C>T | CA345397809 | RYR2 | c.3218C>T (p.Ala1073Val) c.3170C>T (p.Ala1057Val) c.3215C>T (p.Ala1072Val) n.3499C>T c.3197C>T (p.Ala1066Val) n.3532C>T | ClinVar dbSNP gnomAD v2 |
1 | g.237566571C>A | CA071314 | RYR2 | c.3219C>A (p.Ala1073=) c.3171C>A (p.Ala1057=) c.3216C>A (p.Ala1072=) n.3500C>A c.3198C>A (p.Ala1066=) n.3533C>A | |
1 | g.237566571C>G | CA423819083 | RYR2 | c.3219C>G (p.Ala1073=) c.3171C>G (p.Ala1057=) c.3216C>G (p.Ala1072=) n.3500C>G c.3198C>G (p.Ala1066=) n.3533C>G | |
1 | g.237566571C>T | CA423819084 | RYR2 | c.3219C>T (p.Ala1073=) c.3171C>T (p.Ala1057=) c.3216C>T (p.Ala1072=) n.3500C>T c.3198C>T (p.Ala1066=) n.3533C>T | ClinVar dbSNP |
1 | g.237566572A= | CA2487391311 | RYR2 | c.3220A= (p.Arg1074=) c.3172A= (p.Arg1058=) c.3217A= (p.Arg1073=) n.3501A= c.3199A= (p.Arg1067=) n.3534A= | |
1 | g.237566572A>C | CA071304 | RYR2 | c.3220A>C (p.Arg1074=) c.3172A>C (p.Arg1058=) c.3217A>C (p.Arg1073=) n.3501A>C c.3199A>C (p.Arg1067=) n.3534A>C | |
1 | g.237566572A>G | CA071310 | RYR2 | c.3220A>G (p.Arg1074Gly) c.3172A>G (p.Arg1058Gly) c.3217A>G (p.Arg1073Gly) n.3501A>G c.3199A>G (p.Arg1067Gly) n.3534A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.237566572A>T | CA345397812 | RYR2 | c.3220A>T (p.Arg1074Ter) c.3172A>T (p.Arg1058Ter) c.3217A>T (p.Arg1073Ter) n.3501A>T c.3199A>T (p.Arg1067Ter) n.3534A>T | |
1 | g.237566573G>A | CA345397818 | RYR2 | c.3221G>A (p.Arg1074Lys) c.3173G>A (p.Arg1058Lys) c.3218G>A (p.Arg1073Lys) n.3502G>A c.3200G>A (p.Arg1067Lys) n.3535G>A | |
1 | g.237566573G>C | CA345397815 | RYR2 | c.3221G>C (p.Arg1074Thr) c.3173G>C (p.Arg1058Thr) c.3218G>C (p.Arg1073Thr) n.3502G>C c.3200G>C (p.Arg1067Thr) n.3535G>C | |
1 | g.237566573G>T | CA345397816 | RYR2 | c.3221G>T (p.Arg1074Ile) c.3173G>T (p.Arg1058Ile) c.3218G>T (p.Arg1073Ile) n.3502G>T c.3200G>T (p.Arg1067Ile) n.3535G>T | |
1 | g.237566574A>C | CA345397820 | RYR2 | c.3222A>C (p.Arg1074Ser) c.3174A>C (p.Arg1058Ser) c.3219A>C (p.Arg1073Ser) n.3503A>C c.3201A>C (p.Arg1067Ser) n.3536A>C | |
1 | g.237566574A>G | CA423819088 | RYR2 | c.3222A>G (p.Arg1074=) c.3174A>G (p.Arg1058=) c.3219A>G (p.Arg1073=) n.3503A>G c.3201A>G (p.Arg1067=) n.3536A>G | |
1 | g.237566574A>T | CA345397821 | RYR2 | c.3222A>T (p.Arg1074Ser) c.3174A>T (p.Arg1058Ser) c.3219A>T (p.Arg1073Ser) n.3503A>T c.3201A>T (p.Arg1067Ser) n.3536A>T | |
1 | g.237566575G>A | CA071248 | RYR2 | c.3223G>A (p.Ala1075Thr) c.3175G>A (p.Ala1059Thr) c.3220G>A (p.Ala1074Thr) n.3504G>A c.3202G>A (p.Ala1068Thr) n.3537G>A | |
1 | g.237566575G>C | CA345397823 | RYR2 | c.3223G>C (p.Ala1075Pro) c.3175G>C (p.Ala1059Pro) c.3220G>C (p.Ala1074Pro) n.3504G>C c.3202G>C (p.Ala1068Pro) n.3537G>C | |
1 | g.237566575G>T | CA345397826 | RYR2 | c.3223G>T (p.Ala1075Ser) c.3175G>T (p.Ala1059Ser) c.3220G>T (p.Ala1074Ser) n.3504G>T c.3202G>T (p.Ala1068Ser) n.3537G>T | |
1 | g.237566576C>A | CA345397828 | RYR2 | c.3224C>A (p.Ala1075Asp) c.3176C>A (p.Ala1059Asp) c.3221C>A (p.Ala1074Asp) n.3505C>A c.3203C>A (p.Ala1068Asp) n.3538C>A | gnomAD v4 |
1 | g.237566576C= | CA2487391312 | RYR2 | c.3224C= (p.Ala1075=) c.3176C= (p.Ala1059=) c.3221C= (p.Ala1074=) n.3505C= c.3203C= (p.Ala1068=) n.3538C= | |
1 | g.237566576C>G | CA345397829 | RYR2 | c.3224C>G (p.Ala1075Gly) c.3176C>G (p.Ala1059Gly) c.3221C>G (p.Ala1074Gly) n.3505C>G c.3203C>G (p.Ala1068Gly) n.3538C>G | |
1 | g.237566576C>T | CA345397831 | RYR2 | c.3224C>T (p.Ala1075Val) c.3176C>T (p.Ala1059Val) c.3221C>T (p.Ala1074Val) n.3505C>T c.3203C>T (p.Ala1068Val) n.3538C>T | dbSNP gnomAD v2 COSMIC COSMIC |
1 | g.237566577C>A | CA423819090 | RYR2 | c.3225C>A (p.Ala1075=) c.3177C>A (p.Ala1059=) c.3222C>A (p.Ala1074=) n.3506C>A c.3204C>A (p.Ala1068=) n.3539C>A | gnomAD v4 |
1 | g.237566577C= | CA1148225054 | RYR2 | c.3225C= (p.Ala1075=) c.3177C= (p.Ala1059=) c.3222C= (p.Ala1074=) n.3506C= c.3204C= (p.Ala1068=) n.3539C= | |
1 | g.237566577C>G | CA423819091 | RYR2 | c.3225C>G (p.Ala1075=) c.3177C>G (p.Ala1059=) c.3222C>G (p.Ala1074=) n.3506C>G c.3204C>G (p.Ala1068=) n.3539C>G | |
1 | g.237566577C>T | CA009133 | RYR2 | c.3225C>T (p.Ala1075=) c.3177C>T (p.Ala1059=) c.3222C>T (p.Ala1074=) n.3506C>T c.3204C>T (p.Ala1068=) n.3539C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.237566578G>A | CA086339 | RYR2 | c.3226G>A (p.Glu1076Lys) c.3178G>A (p.Glu1060Lys) c.3223G>A (p.Glu1075Lys) n.3507G>A c.3205G>A (p.Glu1069Lys) n.3540G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.237566578G>C | CA345397836 | RYR2 | c.3226G>C (p.Glu1076Gln) c.3178G>C (p.Glu1060Gln) c.3223G>C (p.Glu1075Gln) n.3507G>C c.3205G>C (p.Glu1069Gln) n.3540G>C | |
1 | g.237566578G= | CA2487391313 | RYR2 | c.3226G= (p.Glu1076=) c.3178G= (p.Glu1060=) c.3223G= (p.Glu1075=) n.3507G= c.3205G= (p.Glu1069=) n.3540G= | |
1 | g.237566578G>T | CA345397838 | RYR2 | c.3226G>T (p.Glu1076Ter) c.3178G>T (p.Glu1060Ter) c.3223G>T (p.Glu1075Ter) n.3507G>T c.3205G>T (p.Glu1069Ter) n.3540G>T | gnomAD v4 |
1 | g.237566579A>C | CA345397842 | RYR2 | c.3227A>C (p.Glu1076Ala) c.3179A>C (p.Glu1060Ala) c.3224A>C (p.Glu1075Ala) n.3508A>C c.3206A>C (p.Glu1069Ala) n.3541A>C | |
1 | g.237566579A>G | CA345397843 | RYR2 | c.3227A>G (p.Glu1076Gly) c.3179A>G (p.Glu1060Gly) c.3224A>G (p.Glu1075Gly) n.3508A>G c.3206A>G (p.Glu1069Gly) n.3541A>G | |
1 | g.237566579A>T | CA345397840 | RYR2 | c.3227A>T (p.Glu1076Val) c.3179A>T (p.Glu1060Val) c.3224A>T (p.Glu1075Val) n.3508A>T c.3206A>T (p.Glu1069Val) n.3541A>T | |
1 | g.237566580del | CA913187667 | RYR2 | c.3228del (p.Val1077CysfsTer20) c.3180del (p.Val1061CysfsTer20) c.3225del (p.Val1076CysfsTer20) n.3509del c.3207del (p.Val1070CysfsTer20) n.3542del | |
1 | g.237566580A>C | CA345397847 | RYR2 | c.3228A>C (p.Glu1076Asp) c.3180A>C (p.Glu1060Asp) c.3225A>C (p.Glu1075Asp) n.3509A>C c.3207A>C (p.Glu1069Asp) n.3542A>C | |
1 | g.237566580A>G | CA423819093 | RYR2 | c.3228A>G (p.Glu1076=) c.3180A>G (p.Glu1060=) c.3225A>G (p.Glu1075=) n.3509A>G c.3207A>G (p.Glu1069=) n.3542A>G | |
1 | g.237566580A>T | CA345397845 | RYR2 | c.3228A>T (p.Glu1076Asp) c.3180A>T (p.Glu1060Asp) c.3225A>T (p.Glu1075Asp) n.3509A>T c.3207A>T (p.Glu1069Asp) n.3542A>T | |
1 | g.237566581G>A | CA345397853 | RYR2 | c.3229G>A (p.Val1077Met) c.3181G>A (p.Val1061Met) c.3226G>A (p.Val1076Met) n.3510G>A c.3208G>A (p.Val1070Met) n.3543G>A | |
1 | g.237566581G>C | CA345397849 | RYR2 | c.3229G>C (p.Val1077Leu) c.3181G>C (p.Val1061Leu) c.3226G>C (p.Val1076Leu) n.3510G>C c.3208G>C (p.Val1070Leu) n.3543G>C | |
1 | g.237566581G>T | CA345397851 | RYR2 | c.3229G>T (p.Val1077Leu) c.3181G>T (p.Val1061Leu) c.3226G>T (p.Val1076Leu) n.3510G>T c.3208G>T (p.Val1070Leu) n.3543G>T | |
1 | g.237566582T>A | CA345397855 | RYR2 | c.3230T>A (p.Val1077Glu) c.3182T>A (p.Val1061Glu) c.3227T>A (p.Val1076Glu) n.3511T>A c.3209T>A (p.Val1070Glu) n.3544T>A | |
1 | g.237566582T>C | CA009141 | RYR2 | c.3230T>C (p.Val1077Ala) c.3182T>C (p.Val1061Ala) c.3227T>C (p.Val1076Ala) n.3511T>C c.3209T>C (p.Val1070Ala) n.3544T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.237566582T>G | CA39822643 | RYR2 | c.3230T>G (p.Val1077Gly) c.3182T>G (p.Val1061Gly) c.3227T>G (p.Val1076Gly) n.3511T>G c.3209T>G (p.Val1070Gly) n.3544T>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.237566582T= | CA1143531749 | RYR2 | c.3230T= (p.Val1077=) c.3182T= (p.Val1061=) c.3227T= (p.Val1076=) n.3511T= c.3209T= (p.Val1070=) n.3544T= | |
1 | g.237566583G>A | CA423819098 | RYR2 | c.3231G>A (p.Val1077=) c.3183G>A (p.Val1061=) c.3228G>A (p.Val1076=) n.3512G>A c.3210G>A (p.Val1070=) n.3545G>A | |
1 | g.237566583G>C | CA423819100 | RYR2 | c.3231G>C (p.Val1077=) c.3183G>C (p.Val1061=) c.3228G>C (p.Val1076=) n.3512G>C c.3210G>C (p.Val1070=) n.3545G>C | |
1 | g.237566583G>T | CA423819101 | RYR2 | c.3231G>T (p.Val1077=) c.3183G>T (p.Val1061=) c.3228G>T (p.Val1076=) n.3512G>T c.3210G>T (p.Val1070=) n.3545G>T | |
1 | g.237566584T>A | CA345397859 | RYR2 | c.3232T>A (p.Cys1078Ser) c.3184T>A (p.Cys1062Ser) c.3229T>A (p.Cys1077Ser) n.3513T>A c.3211T>A (p.Cys1071Ser) n.3546T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.237566584T>C | CA345397861 | RYR2 | c.3232T>C (p.Cys1078Arg) c.3184T>C (p.Cys1062Arg) c.3229T>C (p.Cys1077Arg) n.3513T>C c.3211T>C (p.Cys1071Arg) n.3546T>C | ClinVar |
1 | g.237566584T>G | CA345397863 | RYR2 | c.3232T>G (p.Cys1078Gly) c.3184T>G (p.Cys1062Gly) c.3229T>G (p.Cys1077Gly) n.3513T>G c.3211T>G (p.Cys1071Gly) n.3546T>G | |
1 | g.237566584T= | CA2487391314 | RYR2 | c.3232T= (p.Cys1078=) c.3184T= (p.Cys1062=) c.3229T= (p.Cys1077=) n.3513T= c.3211T= (p.Cys1071=) n.3546T= | |
1 | g.237566585G>A | CA345397865 | RYR2 | c.3233G>A (p.Cys1078Tyr) c.3185G>A (p.Cys1062Tyr) c.3230G>A (p.Cys1077Tyr) n.3514G>A c.3212G>A (p.Cys1071Tyr) n.3547G>A | dbSNP |
1 | g.237566585G>C | CA345397867 | RYR2 | c.3233G>C (p.Cys1078Ser) c.3185G>C (p.Cys1062Ser) c.3230G>C (p.Cys1077Ser) n.3514G>C c.3212G>C (p.Cys1071Ser) n.3547G>C | |
1 | g.237566585G= | CA2487391315 | RYR2 | c.3233G= (p.Cys1078=) c.3185G= (p.Cys1062=) c.3230G= (p.Cys1077=) n.3514G= c.3212G= (p.Cys1071=) n.3547G= | |
1 | g.237566585G>T | CA345397869 | RYR2 | c.3233G>T (p.Cys1078Phe) c.3185G>T (p.Cys1062Phe) c.3230G>T (p.Cys1077Phe) n.3514G>T c.3212G>T (p.Cys1071Phe) n.3547G>T | |
1 | g.237566586C>A | CA345397873 | RYR2 | c.3234C>A (p.Cys1078Ter) c.3186C>A (p.Cys1062Ter) c.3231C>A (p.Cys1077Ter) n.3515C>A c.3213C>A (p.Cys1071Ter) n.3548C>A | |
1 | g.237566586C>G | CA345397871 | RYR2 | c.3234C>G (p.Cys1078Trp) c.3186C>G (p.Cys1062Trp) c.3231C>G (p.Cys1077Trp) n.3515C>G c.3213C>G (p.Cys1071Trp) n.3548C>G | |
1 | g.237566586C>T | CA423819105 | RYR2 | c.3234C>T (p.Cys1078=) c.3186C>T (p.Cys1062=) c.3231C>T (p.Cys1077=) n.3515C>T c.3213C>T (p.Cys1071=) n.3548C>T | |
1 | g.237566587A>C | CA345397875 | RYR2 | c.3235A>C (p.Ser1079Arg) c.3187A>C (p.Ser1063Arg) c.3232A>C (p.Ser1078Arg) n.3516A>C c.3214A>C (p.Ser1072Arg) n.3549A>C | |
1 | g.237566587A>G | CA345397877 | RYR2 | c.3235A>G (p.Ser1079Gly) c.3187A>G (p.Ser1063Gly) c.3232A>G (p.Ser1078Gly) n.3516A>G c.3214A>G (p.Ser1072Gly) n.3549A>G | |
1 | g.237566587A>T | CA345397879 | RYR2 | c.3235A>T (p.Ser1079Cys) c.3187A>T (p.Ser1063Cys) c.3232A>T (p.Ser1078Cys) n.3516A>T c.3214A>T (p.Ser1072Cys) n.3549A>T | |
1 | g.237566588G>A | CA345397881 | RYR2 | c.3236G>A (p.Ser1079Asn) c.3188G>A (p.Ser1063Asn) c.3233G>A (p.Ser1078Asn) n.3517G>A c.3215G>A (p.Ser1072Asn) n.3550G>A | gnomAD v4 |
1 | g.237566588G>C | CA345397882 | RYR2 | c.3236G>C (p.Ser1079Thr) c.3188G>C (p.Ser1063Thr) c.3233G>C (p.Ser1078Thr) n.3517G>C c.3215G>C (p.Ser1072Thr) n.3550G>C | |
1 | g.237566588G>T | CA345397884 | RYR2 | c.3236G>T (p.Ser1079Ile) c.3188G>T (p.Ser1063Ile) c.3233G>T (p.Ser1078Ile) n.3517G>T c.3215G>T (p.Ser1072Ile) n.3550G>T | gnomAD v4 |
1 | g.237566589C>A | CA345397886 | RYR2 | c.3237C>A (p.Ser1079Arg) c.3189C>A (p.Ser1063Arg) c.3234C>A (p.Ser1078Arg) n.3518C>A c.3216C>A (p.Ser1072Arg) n.3551C>A | |
1 | g.237566589C= | CA2487391316 | RYR2 | c.3237C= (p.Ser1079=) c.3189C= (p.Ser1063=) c.3234C= (p.Ser1078=) n.3518C= c.3216C= (p.Ser1072=) n.3551C= | |
1 | g.237566589C>G | CA345397889 | RYR2 | c.3237C>G (p.Ser1079Arg) c.3189C>G (p.Ser1063Arg) c.3234C>G (p.Ser1078Arg) n.3518C>G c.3216C>G (p.Ser1072Arg) n.3551C>G | |
1 | g.237566589C>T | CA086340 | RYR2 | c.3237C>T (p.Ser1079=) c.3189C>T (p.Ser1063=) c.3234C>T (p.Ser1078=) n.3518C>T c.3216C>T (p.Ser1072=) n.3551C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.237566590G>A | CA009148 | RYR2 | c.3238G>A (p.Gly1080Ser) c.3190G>A (p.Gly1064Ser) c.3235G>A (p.Gly1079Ser) n.3519G>A c.3217G>A (p.Gly1073Ser) n.3552G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.237566590G>C | CA345397892 | RYR2 | c.3238G>C (p.Gly1080Arg) c.3190G>C (p.Gly1064Arg) c.3235G>C (p.Gly1079Arg) n.3519G>C c.3217G>C (p.Gly1073Arg) n.3552G>C | |
1 | g.237566590G= | CA1148225055 | RYR2 | c.3238G= (p.Gly1080=) c.3190G= (p.Gly1064=) c.3235G= (p.Gly1079=) n.3519G= c.3217G= (p.Gly1073=) n.3552G= | |
1 | g.237566590G>T | CA345397894 | RYR2 | c.3238G>T (p.Gly1080Cys) c.3190G>T (p.Gly1064Cys) c.3235G>T (p.Gly1079Cys) n.3519G>T c.3217G>T (p.Gly1073Cys) n.3552G>T | COSMIC COSMIC |
1 | g.237566591G>A | CA345397898 | RYR2 | c.3239G>A (p.Gly1080Asp) c.3191G>A (p.Gly1064Asp) c.3236G>A (p.Gly1079Asp) n.3520G>A c.3218G>A (p.Gly1073Asp) n.3553G>A | gnomAD v4 |
1 | g.237566591G>C | CA345397900 | RYR2 | c.3239G>C (p.Gly1080Ala) c.3191G>C (p.Gly1064Ala) c.3236G>C (p.Gly1079Ala) n.3520G>C c.3218G>C (p.Gly1073Ala) n.3553G>C | |
1 | g.237566591G>T | CA345397897 | RYR2 | c.3239G>T (p.Gly1080Val) c.3191G>T (p.Gly1064Val) c.3236G>T (p.Gly1079Val) n.3520G>T c.3218G>T (p.Gly1073Val) n.3553G>T | COSMIC COSMIC |
1 | g.237566592C>A | CA086341 | RYR2 | c.3240C>A (p.Gly1080=) c.3192C>A (p.Gly1064=) c.3237C>A (p.Gly1079=) n.3521C>A c.3219C>A (p.Gly1073=) n.3554C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.237566592C= | CA1148240688 | RYR2 | c.3240C= (p.Gly1080=) c.3192C= (p.Gly1064=) c.3237C= (p.Gly1079=) n.3521C= c.3219C= (p.Gly1073=) n.3554C= | |
1 | g.237566592C>G | CA423819111 | RYR2 | c.3240C>G (p.Gly1080=) c.3192C>G (p.Gly1064=) c.3237C>G (p.Gly1079=) n.3521C>G c.3219C>G (p.Gly1073=) n.3554C>G | |
1 | g.237566592C>T | CA423819112 | RYR2 | c.3240C>T (p.Gly1080=) c.3192C>T (p.Gly1064=) c.3237C>T (p.Gly1079=) n.3521C>T c.3219C>T (p.Gly1073=) n.3554C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.237566593A>C | CA345397903 | RYR2 | c.3241A>C (p.Thr1081Pro) c.3193A>C (p.Thr1065Pro) c.3238A>C (p.Thr1080Pro) n.3522A>C c.3220A>C (p.Thr1074Pro) n.3555A>C | |
1 | g.237566593A>G | CA345397904 | RYR2 | c.3241A>G (p.Thr1081Ala) c.3193A>G (p.Thr1065Ala) c.3238A>G (p.Thr1080Ala) n.3522A>G c.3220A>G (p.Thr1074Ala) n.3555A>G | gnomAD v4 |
1 | g.237566593A>T | CA345397906 | RYR2 | c.3241A>T (p.Thr1081Ser) c.3193A>T (p.Thr1065Ser) c.3238A>T (p.Thr1080Ser) n.3522A>T c.3220A>T (p.Thr1074Ser) n.3555A>T | |
1 | g.237566594C>A | CA345397908 | RYR2 | c.3242C>A (p.Thr1081Asn) c.3194C>A (p.Thr1065Asn) c.3239C>A (p.Thr1080Asn) n.3523C>A c.3221C>A (p.Thr1074Asn) n.3556C>A | |
1 | g.237566594C>G | CA345397910 | RYR2 | c.3242C>G (p.Thr1081Ser) c.3194C>G (p.Thr1065Ser) c.3239C>G (p.Thr1080Ser) n.3523C>G c.3221C>G (p.Thr1074Ser) n.3556C>G | |
1 | g.237566594C>T | CA071301 | RYR2 | c.3242C>T (p.Thr1081Ile) c.3194C>T (p.Thr1065Ile) c.3239C>T (p.Thr1080Ile) n.3523C>T c.3221C>T (p.Thr1074Ile) n.3556C>T | gnomAD v4 COSMIC COSMIC |
1 | g.237566595C>A | CA423819114 | RYR2 | c.3243C>A (p.Thr1081=) c.3195C>A (p.Thr1065=) c.3240C>A (p.Thr1080=) n.3524C>A c.3222C>A (p.Thr1074=) n.3557C>A | COSMIC |
1 | g.237566595C= | CA2487391317 | RYR2 | c.3243C= (p.Thr1081=) c.3195C= (p.Thr1065=) c.3240C= (p.Thr1080=) n.3524C= c.3222C= (p.Thr1074=) n.3557C= | |
1 | g.237566595C>G | CA423819113 | RYR2 | c.3243C>G (p.Thr1081=) c.3195C>G (p.Thr1065=) c.3240C>G (p.Thr1080=) n.3524C>G c.3222C>G (p.Thr1074=) n.3557C>G | |
1 | g.237566595C>T | CA086342 | RYR2 | c.3243C>T (p.Thr1081=) c.3195C>T (p.Thr1065=) c.3240C>T (p.Thr1080=) n.3524C>T c.3222C>T (p.Thr1074=) n.3557C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.237566596G>A | CA086343 | RYR2 | c.3244G>A (p.Gly1082Arg) c.3196G>A (p.Gly1066Arg) c.3241G>A (p.Gly1081Arg) n.3525G>A c.3223G>A (p.Gly1075Arg) n.3558G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.237566596G>C | CA345397914 | RYR2 | c.3244G>C (p.Gly1082Arg) c.3196G>C (p.Gly1066Arg) c.3241G>C (p.Gly1081Arg) n.3525G>C c.3223G>C (p.Gly1075Arg) n.3558G>C | |
1 | g.237566596G= | CA2487391318 | RYR2 | c.3244G= (p.Gly1082=) c.3196G= (p.Gly1066=) c.3241G= (p.Gly1081=) n.3525G= c.3223G= (p.Gly1075=) n.3558G= | |
1 | g.237566596G>T | CA345397915 | RYR2 | c.3244G>T (p.Gly1082Trp) c.3196G>T (p.Gly1066Trp) c.3241G>T (p.Gly1081Trp) n.3525G>T c.3223G>T (p.Gly1075Trp) n.3558G>T | ClinVar |
1 | g.237566597G>A | CA345397918 | RYR2 | c.3245G>A (p.Gly1082Glu) c.3197G>A (p.Gly1066Glu) c.3242G>A (p.Gly1081Glu) n.3526G>A c.3224G>A (p.Gly1075Glu) n.3559G>A | gnomAD v4 |
1 | g.237566597G>C | CA345397919 | RYR2 | c.3245G>C (p.Gly1082Ala) c.3197G>C (p.Gly1066Ala) c.3242G>C (p.Gly1081Ala) n.3526G>C c.3224G>C (p.Gly1075Ala) n.3559G>C | gnomAD v4 |
1 | g.237566597G>T | CA345397920 | RYR2 | c.3245G>T (p.Gly1082Val) c.3197G>T (p.Gly1066Val) c.3242G>T (p.Gly1081Val) n.3526G>T c.3224G>T (p.Gly1075Val) n.3559G>T | gnomAD v4 |
1 | g.237566598G>A | CA423819115 | RYR2 | c.3246G>A (p.Gly1082=) c.3198G>A (p.Gly1066=) c.3243G>A (p.Gly1081=) n.3527G>A c.3225G>A (p.Gly1075=) n.3560G>A | ClinVar dbSNP |
1 | g.237566598G>C | CA423819116 | RYR2 | c.3246G>C (p.Gly1082=) c.3198G>C (p.Gly1066=) c.3243G>C (p.Gly1081=) n.3527G>C c.3225G>C (p.Gly1075=) n.3560G>C | |
1 | g.237566598G= | CA2487391319 | RYR2 | c.3246G= (p.Gly1082=) c.3198G= (p.Gly1066=) c.3243G= (p.Gly1081=) n.3527G= c.3225G= (p.Gly1075=) n.3560G= | |
1 | g.237566598G>T | CA423819117 | RYR2 | c.3246G>T (p.Gly1082=) c.3198G>T (p.Gly1066=) c.3243G>T (p.Gly1081=) n.3527G>T c.3225G>T (p.Gly1075=) n.3560G>T | |
1 | g.237566599G>A | CA345397922 | RYR2 | c.3247G>A (p.Glu1083Lys) c.3199G>A (p.Glu1067Lys) c.3244G>A (p.Glu1082Lys) n.3528G>A c.3226G>A (p.Glu1076Lys) n.3561G>A | ClinVar gnomAD v4 COSMIC COSMIC |
1 | g.237566599G>C | CA345397927 | RYR2 | c.3247G>C (p.Glu1083Gln) c.3199G>C (p.Glu1067Gln) c.3244G>C (p.Glu1082Gln) n.3528G>C c.3226G>C (p.Glu1076Gln) n.3561G>C | |
1 | g.237566599G>T | CA345397924 | RYR2 | c.3247G>T (p.Glu1083Ter) c.3199G>T (p.Glu1067Ter) c.3244G>T (p.Glu1082Ter) n.3528G>T c.3226G>T (p.Glu1076Ter) n.3561G>T | |
1 | g.237566600A= | CA2487391320 | RYR2 | c.3248A= (p.Glu1083=) c.3200A= (p.Glu1067=) c.3245A= (p.Glu1082=) n.3529A= c.3227A= (p.Glu1076=) n.3562A= | |
1 | g.237566600A>C | CA345397929 | RYR2 | c.3248A>C (p.Glu1083Ala) c.3200A>C (p.Glu1067Ala) c.3245A>C (p.Glu1082Ala) n.3529A>C c.3227A>C (p.Glu1076Ala) n.3562A>C | |
1 | g.237566600A>G | CA345397932 | RYR2 | c.3248A>G (p.Glu1083Gly) c.3200A>G (p.Glu1067Gly) c.3245A>G (p.Glu1082Gly) n.3529A>G c.3227A>G (p.Glu1076Gly) n.3562A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.237566600A>T | CA345397934 | RYR2 | c.3248A>T (p.Glu1083Val) c.3200A>T (p.Glu1067Val) c.3245A>T (p.Glu1082Val) n.3529A>T c.3227A>T (p.Glu1076Val) n.3562A>T | |
1 | g.237566601A>C | CA345397939 | RYR2 | c.3249A>C (p.Glu1083Asp) c.3201A>C (p.Glu1067Asp) c.3246A>C (p.Glu1082Asp) n.3530A>C c.3228A>C (p.Glu1076Asp) n.3563A>C | |
1 | g.237566601A>G | CA423819121 | RYR2 | c.3249A>G (p.Glu1083=) c.3201A>G (p.Glu1067=) c.3246A>G (p.Glu1082=) n.3530A>G c.3228A>G (p.Glu1076=) n.3563A>G | |
1 | g.237566601A>T | CA345397942 | RYR2 | c.3249A>T (p.Glu1083Asp) c.3201A>T (p.Glu1067Asp) c.3246A>T (p.Glu1082Asp) n.3530A>T c.3228A>T (p.Glu1076Asp) n.3563A>T | |
1 | g.237566602A>C | CA423819122 | RYR2 | c.3250A>C (p.Arg1084=) c.3202A>C (p.Arg1068=) c.3247A>C (p.Arg1083=) n.3531A>C c.3229A>C (p.Arg1077=) n.3564A>C | |
1 | g.237566602A>G | CA345397945 | RYR2 | c.3250A>G (p.Arg1084Gly) c.3202A>G (p.Arg1068Gly) c.3247A>G (p.Arg1083Gly) n.3531A>G c.3229A>G (p.Arg1077Gly) n.3564A>G | |
1 | g.237566602A>T | CA345397946 | RYR2 | c.3250A>T (p.Arg1084Trp) c.3202A>T (p.Arg1068Trp) c.3247A>T (p.Arg1083Trp) n.3531A>T c.3229A>T (p.Arg1077Trp) n.3564A>T | |
1 | g.237566603G>A | CA009157 | RYR2 | c.3251G>A (p.Arg1084Lys) c.3203G>A (p.Arg1068Lys) c.3248G>A (p.Arg1083Lys) n.3532G>A c.3230G>A (p.Arg1077Lys) n.3565G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.237566603G>C | CA345397953 | RYR2 | c.3251G>C (p.Arg1084Thr) c.3203G>C (p.Arg1068Thr) c.3248G>C (p.Arg1083Thr) n.3532G>C c.3230G>C (p.Arg1077Thr) n.3565G>C | dbSNP |
1 | g.237566603G= | CA1143355772 | RYR2 | c.3251G= (p.Arg1084=) c.3203G= (p.Arg1068=) c.3248G= (p.Arg1083=) n.3532G= c.3230G= (p.Arg1077=) n.3565G= | |
1 | g.237566603G>T | CA345397957 | RYR2 | c.3251G>T (p.Arg1084Met) c.3203G>T (p.Arg1068Met) c.3248G>T (p.Arg1083Met) n.3532G>T c.3230G>T (p.Arg1077Met) n.3565G>T | dbSNP gnomAD v3 gnomAD v4 |
1 | g.237566604G>A | CA423819125 | RYR2 | c.3252G>A (p.Arg1084=) c.3204G>A (p.Arg1068=) c.3249G>A (p.Arg1083=) n.3533G>A c.3231G>A (p.Arg1077=) n.3566G>A | ClinVar |
1 | g.237566604G>C | CA345397961 | RYR2 | c.3252G>C (p.Arg1084Ser) c.3204G>C (p.Arg1068Ser) c.3249G>C (p.Arg1083Ser) n.3533G>C c.3231G>C (p.Arg1077Ser) n.3566G>C | |
1 | g.237566604G>T | CA345397966 | RYR2 | c.3252G>T (p.Arg1084Ser) c.3204G>T (p.Arg1068Ser) c.3249G>T (p.Arg1083Ser) n.3533G>T c.3231G>T (p.Arg1077Ser) n.3566G>T | gnomAD v4 |
1 | g.237566605T>A | CA345397972 | RYR2 | c.3253T>A (p.Phe1085Ile) c.3205T>A (p.Phe1069Ile) c.3250T>A (p.Phe1084Ile) n.3534T>A c.3232T>A (p.Phe1078Ile) n.3567T>A | |
1 | g.237566605T>C | CA345397975 | RYR2 | c.3253T>C (p.Phe1085Leu) c.3205T>C (p.Phe1069Leu) c.3250T>C (p.Phe1084Leu) n.3534T>C c.3232T>C (p.Phe1078Leu) n.3567T>C | dbSNP |
1 | g.237566605T>G | CA345397969 | RYR2 | c.3253T>G (p.Phe1085Val) c.3205T>G (p.Phe1069Val) c.3250T>G (p.Phe1084Val) n.3534T>G c.3232T>G (p.Phe1078Val) n.3567T>G | |
1 | g.237566605T= | CA2487391321 | RYR2 | c.3253T= (p.Phe1085=) c.3205T= (p.Phe1069=) c.3250T= (p.Phe1084=) n.3534T= c.3232T= (p.Phe1078=) n.3567T= | |
1 | g.237566606T>A | CA345397981 | RYR2 | c.3254T>A (p.Phe1085Tyr) c.3206T>A (p.Phe1069Tyr) c.3251T>A (p.Phe1084Tyr) n.3535T>A c.3233T>A (p.Phe1078Tyr) n.3568T>A | |
1 | g.237566606T>C | CA345397978 | RYR2 | c.3254T>C (p.Phe1085Ser) c.3206T>C (p.Phe1069Ser) c.3251T>C (p.Phe1084Ser) n.3535T>C c.3233T>C (p.Phe1078Ser) n.3568T>C | |
1 | g.237566606T>G | CA345397980 | RYR2 | c.3254T>G (p.Phe1085Cys) c.3206T>G (p.Phe1069Cys) c.3251T>G (p.Phe1084Cys) n.3535T>G c.3233T>G (p.Phe1078Cys) n.3568T>G | |
1 | g.237566607C>A | CA345397985 | RYR2 | c.3255C>A (p.Phe1085Leu) c.3207C>A (p.Phe1069Leu) c.3252C>A (p.Phe1084Leu) n.3536C>A c.3234C>A (p.Phe1078Leu) n.3569C>A | |
1 | g.237566607C>G | CA345397988 | RYR2 | c.3255C>G (p.Phe1085Leu) c.3207C>G (p.Phe1069Leu) c.3252C>G (p.Phe1084Leu) n.3536C>G c.3234C>G (p.Phe1078Leu) n.3569C>G | |
1 | g.237566607C>T | CA423819127 | RYR2 | c.3255C>T (p.Phe1085=) c.3207C>T (p.Phe1069=) c.3252C>T (p.Phe1084=) n.3536C>T c.3234C>T (p.Phe1078=) n.3569C>T | |
1 | g.237566608C>A | CA423819128 | RYR2 | c.3256C>A (p.Arg1086=) c.3208C>A (p.Arg1070=) c.3253C>A (p.Arg1085=) n.3537C>A c.3235C>A (p.Arg1079=) n.3570C>A | |
1 | g.237566608C= | CA1143787240 | RYR2 | c.3256C= (p.Arg1086=) c.3208C= (p.Arg1070=) c.3253C= (p.Arg1085=) n.3537C= c.3235C= (p.Arg1079=) n.3570C= | |
1 | g.237566608C>G | CA345397991 | RYR2 | c.3256C>G (p.Arg1086Gly) c.3208C>G (p.Arg1070Gly) c.3253C>G (p.Arg1085Gly) n.3537C>G c.3235C>G (p.Arg1079Gly) n.3570C>G | |
1 | g.237566608C>T | CA086344 | RYR2 | c.3256C>T (p.Arg1086Ter) c.3208C>T (p.Arg1070Ter) c.3253C>T (p.Arg1085Ter) n.3537C>T c.3235C>T (p.Arg1079Ter) n.3570C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.237566609G>A | CA345397997 | RYR2 | c.3257G>A (p.Arg1086Gln) c.3209G>A (p.Arg1070Gln) c.3254G>A (p.Arg1085Gln) n.3538G>A c.3236G>A (p.Arg1079Gln) n.3571G>A | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
1 | g.237566609G>C | CA345397998 | RYR2 | c.3257G>C (p.Arg1086Pro) c.3209G>C (p.Arg1070Pro) c.3254G>C (p.Arg1085Pro) n.3538G>C c.3236G>C (p.Arg1079Pro) n.3571G>C | dbSNP |
1 | g.237566609G= | CA1149127145 | RYR2 | c.3257G= (p.Arg1086=) c.3209G= (p.Arg1070=) c.3254G= (p.Arg1085=) n.3538G= c.3236G= (p.Arg1079=) n.3571G= | |
1 | g.237566609G>T | CA39822680 | RYR2 | c.3257G>T (p.Arg1086Leu) c.3209G>T (p.Arg1070Leu) c.3254G>T (p.Arg1085Leu) n.3538G>T c.3236G>T (p.Arg1079Leu) n.3571G>T | dbSNP |
1 | g.237566610A= | CA1143502246 | RYR2 | c.3258A= (p.Arg1086=) c.3210A= (p.Arg1070=) c.3255A= (p.Arg1085=) n.3539A= c.3237A= (p.Arg1079=) n.3572A= | |
1 | g.237566610A>C | CA423819130 | RYR2 | c.3258A>C (p.Arg1086=) c.3210A>C (p.Arg1070=) c.3255A>C (p.Arg1085=) n.3539A>C c.3237A>C (p.Arg1079=) n.3572A>C | |
1 | g.237566610A>G | CA423819131 | RYR2 | c.3258A>G (p.Arg1086=) c.3210A>G (p.Arg1070=) c.3255A>G (p.Arg1085=) n.3539A>G c.3237A>G (p.Arg1079=) n.3572A>G | |
1 | g.237566610A>T | CA39822682 | RYR2 | c.3258A>T (p.Arg1086=) c.3210A>T (p.Arg1070=) c.3255A>T (p.Arg1085=) n.3539A>T c.3237A>T (p.Arg1079=) n.3572A>T | dbSNP |
1 | g.237566611A>C | CA345398005 | RYR2 | c.3259A>C (p.Ile1087Leu) c.3211A>C (p.Ile1071Leu) c.3256A>C (p.Ile1086Leu) n.3540A>C c.3238A>C (p.Ile1080Leu) n.3573A>C | |
1 | g.237566611A>G | CA345398008 | RYR2 | c.3259A>G (p.Ile1087Val) c.3211A>G (p.Ile1071Val) c.3256A>G (p.Ile1086Val) n.3540A>G c.3238A>G (p.Ile1080Val) n.3573A>G | |
1 | g.237566611A>T | CA345398010 | RYR2 | c.3259A>T (p.Ile1087Phe) c.3211A>T (p.Ile1071Phe) c.3256A>T (p.Ile1086Phe) n.3540A>T c.3238A>T (p.Ile1080Phe) n.3573A>T | |
1 | g.237566612T>A | CA345398019 | RYR2 | c.3260T>A (p.Ile1087Asn) c.3212T>A (p.Ile1071Asn) c.3257T>A (p.Ile1086Asn) n.3541T>A c.3239T>A (p.Ile1080Asn) n.3574T>A | |
1 | g.237566612T>C | CA345398015 | RYR2 | c.3260T>C (p.Ile1087Thr) c.3212T>C (p.Ile1071Thr) c.3257T>C (p.Ile1086Thr) n.3541T>C c.3239T>C (p.Ile1080Thr) n.3574T>C | gnomAD v4 |
1 | g.237566612T>G | CA345398016 | RYR2 | c.3260T>G (p.Ile1087Ser) c.3212T>G (p.Ile1071Ser) c.3257T>G (p.Ile1086Ser) n.3541T>G c.3239T>G (p.Ile1080Ser) n.3574T>G | |
1 | g.237566613C>A | CA423819133 | RYR2 | c.3261C>A (p.Ile1087=) c.3213C>A (p.Ile1071=) c.3258C>A (p.Ile1086=) n.3542C>A c.3240C>A (p.Ile1080=) n.3575C>A | ClinVar |
1 | g.237566613C>G | CA345398022 | RYR2 | c.3261C>G (p.Ile1087Met) c.3213C>G (p.Ile1071Met) c.3258C>G (p.Ile1086Met) n.3542C>G c.3240C>G (p.Ile1080Met) n.3575C>G | |
1 | g.237566613C>T | CA423819135 | RYR2 | c.3261C>T (p.Ile1087=) c.3213C>T (p.Ile1071=) c.3258C>T (p.Ile1086=) n.3542C>T c.3240C>T (p.Ile1080=) n.3575C>T | |
1 | g.237566614T>A | CA345398025 | RYR2 | c.3262T>A (p.Phe1088Ile) c.3214T>A (p.Phe1072Ile) c.3259T>A (p.Phe1087Ile) n.3543T>A c.3241T>A (p.Phe1081Ile) n.3576T>A | |
1 | g.237566614T>C | CA345398028 | RYR2 | c.3262T>C (p.Phe1088Leu) c.3214T>C (p.Phe1072Leu) c.3259T>C (p.Phe1087Leu) n.3543T>C c.3241T>C (p.Phe1081Leu) n.3576T>C | |
1 | g.237566614T>G | CA345398030 | RYR2 | c.3262T>G (p.Phe1088Val) c.3214T>G (p.Phe1072Val) c.3259T>G (p.Phe1087Val) n.3543T>G c.3241T>G (p.Phe1081Val) n.3576T>G | |
1 | g.237566615del | CA2698397483 | RYR2 | c.3263del (p.Phe1088SerfsTer9) c.3215del (p.Phe1072SerfsTer9) c.3260del (p.Phe1087SerfsTer9) n.3544del c.3242del (p.Phe1081SerfsTer9) n.3577del | dbSNP |
1 | g.237566615T>A | CA345398033 | RYR2 | c.3263T>A (p.Phe1088Tyr) c.3215T>A (p.Phe1072Tyr) c.3260T>A (p.Phe1087Tyr) n.3544T>A c.3242T>A (p.Phe1081Tyr) n.3577T>A | |
1 | g.237566615T>C | CA345398035 | RYR2 | c.3263T>C (p.Phe1088Ser) c.3215T>C (p.Phe1072Ser) c.3260T>C (p.Phe1087Ser) n.3544T>C c.3242T>C (p.Phe1081Ser) n.3577T>C | |
1 | g.237566615T>G | CA071290 | RYR2 | c.3263T>G (p.Phe1088Cys) c.3215T>G (p.Phe1072Cys) c.3260T>G (p.Phe1087Cys) n.3544T>G c.3242T>G (p.Phe1081Cys) n.3577T>G | dbSNP COSMIC |
1 | g.237566615T= | CA2487391322 | RYR2 | c.3263T= (p.Phe1088=) c.3215T= (p.Phe1072=) c.3260T= (p.Phe1087=) n.3544T= c.3242T= (p.Phe1081=) n.3577T= | |
1 | g.237566616C>A | CA345398038 | RYR2 | c.3264C>A (p.Phe1088Leu) c.3216C>A (p.Phe1072Leu) c.3261C>A (p.Phe1087Leu) n.3545C>A c.3243C>A (p.Phe1081Leu) n.3578C>A | |
1 | g.237566616C>G | CA345398040 | RYR2 | c.3264C>G (p.Phe1088Leu) c.3216C>G (p.Phe1072Leu) c.3261C>G (p.Phe1087Leu) n.3545C>G c.3243C>G (p.Phe1081Leu) n.3578C>G | |
1 | g.237566616C>T | CA423819136 | RYR2 | c.3264C>T (p.Phe1088=) c.3216C>T (p.Phe1072=) c.3261C>T (p.Phe1087=) n.3545C>T c.3243C>T (p.Phe1081=) n.3578C>T | |
1 | g.237566617C>A | CA345398043 | RYR2 | c.3265C>A (p.Arg1089Ser) c.3217C>A (p.Arg1073Ser) c.3262C>A (p.Arg1088Ser) n.3546C>A c.3244C>A (p.Arg1082Ser) n.3579C>A | COSMIC |
1 | g.237566617C= | CA2487391323 | RYR2 | c.3265C= (p.Arg1089=) c.3217C= (p.Arg1073=) c.3262C= (p.Arg1088=) n.3546C= c.3244C= (p.Arg1082=) n.3579C= | |
1 | g.237566617C>G | CA345398045 | RYR2 | c.3265C>G (p.Arg1089Gly) c.3217C>G (p.Arg1073Gly) c.3262C>G (p.Arg1088Gly) n.3546C>G c.3244C>G (p.Arg1082Gly) n.3579C>G | |
1 | g.237566617C>T | CA10585956 | RYR2 | c.3265C>T (p.Arg1089Cys) c.3217C>T (p.Arg1073Cys) c.3262C>T (p.Arg1088Cys) n.3546C>T c.3244C>T (p.Arg1082Cys) n.3579C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.237566618G>A | CA086345 | RYR2 | c.3266G>A (p.Arg1089His) c.3218G>A (p.Arg1073His) c.3263G>A (p.Arg1088His) n.3547G>A c.3245G>A (p.Arg1082His) n.3580G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.237566618G>C | CA345398051 | RYR2 | c.3266G>C (p.Arg1089Pro) c.3218G>C (p.Arg1073Pro) c.3263G>C (p.Arg1088Pro) n.3547G>C c.3245G>C (p.Arg1082Pro) n.3580G>C | |
1 | g.237566618G= | CA1146164360 | RYR2 | c.3266G= (p.Arg1089=) c.3218G= (p.Arg1073=) c.3263G= (p.Arg1088=) n.3547G= c.3245G= (p.Arg1082=) n.3580G= | |
1 | g.237566618G>T | CA345398047 | RYR2 | c.3266G>T (p.Arg1089Leu) c.3218G>T (p.Arg1073Leu) c.3263G>T (p.Arg1088Leu) n.3547G>T c.3245G>T (p.Arg1082Leu) n.3580G>T | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.237566619T>A | CA423819137 | RYR2 | c.3267T>A (p.Arg1089=) c.3219T>A (p.Arg1073=) c.3264T>A (p.Arg1088=) n.3548T>A c.3246T>A (p.Arg1082=) n.3581T>A | |
1 | g.237566619T>C | CA086346 | RYR2 | c.3267T>C (p.Arg1089=) c.3219T>C (p.Arg1073=) c.3264T>C (p.Arg1088=) n.3548T>C c.3246T>C (p.Arg1082=) n.3581T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.237566619T>G | CA423819138 | RYR2 | c.3267T>G (p.Arg1089=) c.3219T>G (p.Arg1073=) c.3264T>G (p.Arg1088=) n.3548T>G c.3246T>G (p.Arg1082=) n.3581T>G | |
1 | g.237566619T= | CA2487391324 | RYR2 | c.3267T= (p.Arg1089=) c.3219T= (p.Arg1073=) c.3264T= (p.Arg1088=) n.3548T= c.3246T= (p.Arg1082=) n.3581T= | |
1 | g.237566620G>A | CA071349 | RYR2 | c.3268G>A (p.Ala1090Thr) c.3220G>A (p.Ala1074Thr) c.3265G>A (p.Ala1089Thr) n.3549G>A c.3247G>A (p.Ala1083Thr) n.3582G>A | |
1 | g.237566620G>C | CA345398055 | RYR2 | c.3268G>C (p.Ala1090Pro) c.3220G>C (p.Ala1074Pro) c.3265G>C (p.Ala1089Pro) n.3549G>C c.3247G>C (p.Ala1083Pro) n.3582G>C | |
1 | g.237566620G>T | CA345398057 | RYR2 | c.3268G>T (p.Ala1090Ser) c.3220G>T (p.Ala1074Ser) c.3265G>T (p.Ala1089Ser) n.3549G>T c.3247G>T (p.Ala1083Ser) n.3582G>T | |
1 | g.237566621C>A | CA345398060 | RYR2 | c.3269C>A (p.Ala1090Asp) c.3221C>A (p.Ala1074Asp) c.3266C>A (p.Ala1089Asp) n.3550C>A c.3248C>A (p.Ala1083Asp) n.3583C>A | |
1 | g.237566621C>G | CA345398061 | RYR2 | c.3269C>G (p.Ala1090Gly) c.3221C>G (p.Ala1074Gly) c.3266C>G (p.Ala1089Gly) n.3550C>G c.3248C>G (p.Ala1083Gly) n.3583C>G | |
1 | g.237566621C>T | CA345398064 | RYR2 | c.3269C>T (p.Ala1090Val) c.3221C>T (p.Ala1074Val) c.3266C>T (p.Ala1089Val) n.3550C>T c.3248C>T (p.Ala1083Val) n.3583C>T | COSMIC |
1 | g.237566622C>A | CA423819139 | RYR2 | c.3270C>A (p.Ala1090=) c.3222C>A (p.Ala1074=) c.3267C>A (p.Ala1089=) n.3551C>A c.3249C>A (p.Ala1083=) n.3584C>A | ClinVar dbSNP gnomAD v4 |
1 | g.237566622C= | CA2487391325 | RYR2 | c.3270C= (p.Ala1090=) c.3222C= (p.Ala1074=) c.3267C= (p.Ala1089=) n.3551C= c.3249C= (p.Ala1083=) n.3584C= | |
1 | g.237566622C>G | CA423819140 | RYR2 | c.3270C>G (p.Ala1090=) c.3222C>G (p.Ala1074=) c.3267C>G (p.Ala1089=) n.3551C>G c.3249C>G (p.Ala1083=) n.3584C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.237566622C>T | CA423819141 | RYR2 | c.3270C>T (p.Ala1090=) c.3222C>T (p.Ala1074=) c.3267C>T (p.Ala1089=) n.3551C>T c.3249C>T (p.Ala1083=) n.3584C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.237566623G>A | CA009166 | RYR2 | c.3271G>A (p.Glu1091Lys) c.3223G>A (p.Glu1075Lys) c.3268G>A (p.Glu1090Lys) n.3552G>A c.3250G>A (p.Glu1084Lys) n.3585G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.237566623G>C | CA345398068 | RYR2 | c.3271G>C (p.Glu1091Gln) c.3223G>C (p.Glu1075Gln) c.3268G>C (p.Glu1090Gln) n.3552G>C c.3250G>C (p.Glu1084Gln) n.3585G>C | |
1 | g.237566623G= | CA1148225056 | RYR2 | c.3271G= (p.Glu1091=) c.3223G= (p.Glu1075=) c.3268G= (p.Glu1090=) n.3552G= c.3250G= (p.Glu1084=) n.3585G= | |
1 | g.237566623G>T | CA345398070 | RYR2 | c.3271G>T (p.Glu1091Ter) c.3223G>T (p.Glu1075Ter) c.3268G>T (p.Glu1090Ter) n.3552G>T c.3250G>T (p.Glu1084Ter) n.3585G>T | COSMIC COSMIC |
1 | g.237566623_237566626delinsGAGA | CA2487391326 | RYR2 | c.3271_3274delinsGAGA (p.Glu1091=) c.3223_3226delinsGAGA (p.Glu1075=) c.3268_3271delinsGAGA (p.Glu1090=) n.3552_3555delinsGAGA c.3250_3253delinsGAGA (p.Glu1084=) n.3585_3588delinsGAGA |