| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38446423_38446424delinsTC | CA2335027067 | RYR1 | c.632-49_632-48delinsTC (n.632-49_632-48delinsTC) n.715-49_715-48delinsTC | |
| 19 | g.38446424C= | CA2335027068 | RYR1 | c.632-48C= (n.632-48C=) n.715-48C= | |
| 19 | g.38446424C>T | CA633065918 | RYR1 | c.632-48C>T (n.632-48C>T) n.715-48C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38446425del | CA068106 | RYR1 | c.632-47del (n.632-47del) n.715-47del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38446425C>A | CA2584893007 | RYR1 | c.632-47C>A (n.632-47C>A) n.715-47C>A | gnomAD v4 |
| 19 | g.38446425C= | CA2335027069 | RYR1 | c.632-47C= (n.632-47C=) n.715-47C= | |
| 19 | g.38446425C>G | CA995710765 | RYR1 | c.632-47C>G (n.632-47C>G) n.715-47C>G | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38446426T>C | CA2584893008 | RYR1 | c.632-46T>C (n.632-46T>C) n.715-46T>C | gnomAD v4 |
| 19 | g.38446426T>G | CA068104 | RYR1 | c.632-46T>G (n.632-46T>G) n.715-46T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38446426T= | CA2335027070 | RYR1 | c.632-46T= (n.632-46T=) n.715-46T= | |
| 19 | g.38446427G>A | CA2584893009 | RYR1 | c.632-45G>A (n.632-45G>A) n.715-45G>A | gnomAD v4 |
| 19 | g.38446430del | CA2576770209 | RYR1 | c.632-42del (n.632-42del) n.715-42del | gnomAD v4 |
| 19 | g.38446428G>A | CA308114103 | RYR1 | c.632-44G>A (n.632-44G>A) n.715-44G>A | dbSNP |
| 19 | g.38446428G>C | CA2584893011 | RYR1 | c.632-44G>C (n.632-44G>C) n.715-44G>C | gnomAD v4 |
| 19 | g.38446428G= | CA2335027071 | RYR1 | c.632-44G= (n.632-44G=) n.715-44G= | |
| 19 | g.38446428G>T | CA2584893010 | RYR1 | c.632-44G>T (n.632-44G>T) n.715-44G>T | gnomAD v4 |
| 19 | g.38446429G>T | CA2576770210 | RYR1 | c.632-43G>T (n.632-43G>T) n.715-43G>T | |
| 19 | g.38446429_38446431delinsGGC | CA2335027072 | RYR1 | c.632-43_632-41delinsGGC (n.632-43_632-41delinsGGC) n.715-43_715-41delinsGGC | |
| 19 | g.38446430G>A | CA068102 | RYR1 | c.632-42G>A (n.632-42G>A) n.715-42G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38446430G= | CA2335027073 | RYR1 | c.632-42G= (n.632-42G=) n.715-42G= | |
| 19 | g.38446430G>T | CA2584893012 | RYR1 | c.632-42G>T (n.632-42G>T) n.715-42G>T | gnomAD v4 |
| 19 | g.38446430_38446431del | CA308114105 | RYR1 | c.632-42_632-41del (n.632-42_632-41del) n.715-42_715-41del | dbSNP |
| 19 | g.38446431C>A | CA2576770211 | RYR1 | c.632-41C>A (n.632-41C>A) n.715-41C>A | gnomAD v4 |
| 19 | g.38446431C>T | CA2584893013 | RYR1 | c.632-41C>T (n.632-41C>T) n.715-41C>T | gnomAD v4 |
| 19 | g.38446432T>A | CA308114115 | RYR1 | c.632-40T>A (n.632-40T>A) n.715-40T>A | dbSNP |
| 19 | g.38446432T= | CA2335027074 | RYR1 | c.632-40T= (n.632-40T=) n.715-40T= | |
| 19 | g.38446433C>A | CA2584893014 | RYR1 | c.632-39C>A (n.632-39C>A) n.715-39C>A | gnomAD v4 |
| 19 | g.38446433C= | CA2335027075 | RYR1 | c.632-39C= (n.632-39C=) n.715-39C= | |
| 19 | g.38446433C>G | CA068095 | RYR1 | c.632-39C>G (n.632-39C>G) n.715-39C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38446433C>T | CA633065919 | RYR1 | c.632-39C>T (n.632-39C>T) n.715-39C>T | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38446434C= | CA2335027076 | RYR1 | c.632-38C= (n.632-38C=) n.715-38C= | |
| 19 | g.38446434C>T | CA068092 | RYR1 | c.632-38C>T (n.632-38C>T) n.715-38C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38446434_38446435insCAAGTAGCTGGGACTACAGACGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAG | CA995710767 | RYR1 | c.632-38_632-37insCAAGTAGCTGGGACTACAGACGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAG (n.632-38_632-37insCAAGTAGCTGGGACTACAGACGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAG) n.715-38_715-37insCAAGTAGCTGGGACTACAGACGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAG | gnomAD v3 gnomAD v4 |
| 19 | g.38446435A>G | CA2584893015 | RYR1 | c.632-37A>G (n.632-37A>G) n.715-37A>G | gnomAD v4 |
| 19 | g.38446436G>A | CA2584893016 | RYR1 | c.632-36G>A (n.632-36G>A) n.715-36G>A | gnomAD v4 |
| 19 | g.38446436G= | CA2335027077 | RYR1 | c.632-36G= (n.632-36G=) n.715-36G= | |
| 19 | g.38446436_38446437insGA | CA2335027078 | RYR1 | c.632-36_632-35insGA (n.632-36_632-35insGA) n.715-36_715-35insGA | dbSNP |
| 19 | g.38446437C>A | CA2584893017 | RYR1 | c.632-35C>A (n.632-35C>A) n.715-35C>A | gnomAD v4 |
| 19 | g.38446437C>T | CA2576770212 | RYR1 | c.632-35C>T (n.632-35C>T) n.715-35C>T | |
| 19 | g.38446438C>A | CA2584893018 | RYR1 | c.632-34C>A (n.632-34C>A) n.715-34C>A | gnomAD v4 |
| 19 | g.38446439del | CA2576770213 | RYR1 | c.632-33del (n.632-33del) n.715-33del | |
| 19 | g.38446439T>C | CA2584893019 | RYR1 | c.632-33T>C (n.632-33T>C) n.715-33T>C | gnomAD v4 |
| 19 | g.38446440C= | CA2335027079 | RYR1 | c.632-32C= (n.632-32C=) n.715-32C= | |
| 19 | g.38446440C>T | CA068089 | RYR1 | c.632-32C>T (n.632-32C>T) n.715-32C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38446441C>G | CA2584893020 | RYR1 | c.632-31C>G (n.632-31C>G) n.715-31C>G | gnomAD v4 |
| 19 | g.38446442C>A | CA2584893021 | RYR1 | c.632-30C>A (n.632-30C>A) n.715-30C>A | gnomAD v4 |
| 19 | g.38446442C>T | CA2584893022 | RYR1 | c.632-30C>T (n.632-30C>T) n.715-30C>T | gnomAD v4 |
| 19 | g.38446443A= | CA2335027080 | RYR1 | c.632-29A= (n.632-29A=) n.715-29A= | |
| 19 | g.38446443A>G | CA882053737 | RYR1 | c.632-29A>G (n.632-29A>G) n.715-29A>G | dbSNP |
| 19 | g.38446443A>T | CA068087 | RYR1 | c.632-29A>T (n.632-29A>T) n.715-29A>T | dbSNP ExAC gnomAD v2 |
| 19 | g.38446444T>C | CA2335027082 | RYR1 | c.632-28T>C (n.632-28T>C) n.715-28T>C | dbSNP |
| 19 | g.38446444T= | CA2335027081 | RYR1 | c.632-28T= (n.632-28T=) n.715-28T= | |
| 19 | g.38446446G>A | CA068084 | RYR1 | c.632-26G>A (n.632-26G>A) n.715-26G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38446446G= | CA2335027083 | RYR1 | c.632-26G= (n.632-26G=) n.715-26G= | |
| 19 | g.38446446G>T | CA2584893023 | RYR1 | c.632-26G>T (n.632-26G>T) n.715-26G>T | gnomAD v4 |
| 19 | g.38446447A= | CA2335027084 | RYR1 | c.632-25A= (n.632-25A=) n.715-25A= | |
| 19 | g.38446447A>G | CA633065920 | RYR1 | c.632-25A>G (n.632-25A>G) n.715-25A>G | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38446448C>A | CA2584893024 | RYR1 | c.632-24C>A (n.632-24C>A) n.715-24C>A | gnomAD v4 |
| 19 | g.38446449C>A | CA2584893025 | RYR1 | c.632-23C>A (n.632-23C>A) n.715-23C>A | gnomAD v4 |
| 19 | g.38446449C= | CA2335027085 | RYR1 | c.632-23C= (n.632-23C=) n.715-23C= | |
| 19 | g.38446449C>G | CA2584893026 | RYR1 | c.632-23C>G (n.632-23C>G) n.715-23C>G | gnomAD v4 |
| 19 | g.38446449C>T | CA308114126 | RYR1 | c.632-23C>T (n.632-23C>T) n.715-23C>T | dbSNP |
| 19 | g.38446451A= | CA2335027086 | RYR1 | c.632-21A= (n.632-21A=) n.715-21A= | |
| 19 | g.38446451A>C | CA2735882073 | RYR1 | c.632-21A>C (n.632-21A>C) n.715-21A>C | dbSNP |
| 19 | g.38446451A>G | CA068082 | RYR1 | c.632-21A>G (n.632-21A>G) n.715-21A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38446452C>A | CA2584893027 | RYR1 | c.632-20C>A (n.632-20C>A) n.715-20C>A | gnomAD v4 |
| 19 | g.38446452C>T | CA2576770214 | RYR1 | c.632-20C>T (n.632-20C>T) n.715-20C>T | gnomAD v4 |
| 19 | g.38446453T>A | CA308114128 | RYR1 | c.632-19T>A (n.632-19T>A) n.715-19T>A | dbSNP gnomAD v4 |
| 19 | g.38446453T>C | CA633065921 | RYR1 | c.632-19T>C (n.632-19T>C) n.715-19T>C | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38446453T= | CA2335027087 | RYR1 | c.632-19T= (n.632-19T=) n.715-19T= | |
| 19 | g.38446454T>G | CA2584893028 | RYR1 | c.632-18T>G (n.632-18T>G) n.715-18T>G | gnomAD v4 |
| 19 | g.38446455C>T | CA2584893029 | RYR1 | c.632-17C>T (n.632-17C>T) n.715-17C>T | gnomAD v4 |
| 19 | g.38446456C= | CA2335027088 | RYR1 | c.632-16C= (n.632-16C=) n.715-16C= | |
| 19 | g.38446456C>T | CA2335027089 | RYR1 | c.632-16C>T (n.632-16C>T) n.715-16C>T | dbSNP |
| 19 | g.38446457C>A | CA2584893030 | RYR1 | c.632-15C>A (n.632-15C>A) n.715-15C>A | gnomAD v4 |
| 19 | g.38446457C= | CA2335027090 | RYR1 | c.632-15C= (n.632-15C=) n.715-15C= | |
| 19 | g.38446457C>G | CA2584893031 | RYR1 | c.632-15C>G (n.632-15C>G) n.715-15C>G | gnomAD v4 |
| 19 | g.38446457C>T | CA882053743 | RYR1 | c.632-15C>T (n.632-15C>T) n.715-15C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38446458T>C | CA068075 | RYR1 | c.632-14T>C (n.632-14T>C) n.715-14T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38446458T= | CA2335027091 | RYR1 | c.632-14T= (n.632-14T=) n.715-14T= | |
| 19 | g.38446461C>A | CA2814333034 | RYR1 | c.632-11C>A (n.632-11C>A) n.715-11C>A | |
| 19 | g.38446461C= | CA2335027093 | RYR1 | c.632-11C= (n.632-11C=) n.715-11C= | |
| 19 | g.38446461C>T | CA10587302 | RYR1 | c.632-11C>T (n.632-11C>T) n.715-11C>T | ClinVar dbSNP |
| 19 | g.38446461_38446462delinsCT | CA2335027092 | RYR1 | c.632-11_632-10delinsCT (n.632-11_632-10delinsCT) n.715-11_715-10delinsCT | |
| 19 | g.38446462del | CA068071 | RYR1 | c.632-10del (n.632-10del) n.715-10del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38446463C= | CA2335027095 | RYR1 | c.632-9C= (n.632-9C=) n.715-9C= | |
| 19 | g.38446463C>G | CA2335027094 | RYR1 | c.632-9C>G (n.632-9C>G) n.715-9C>G | dbSNP |
| 19 | g.38446464del | CA405679178 | RYR1 | c.632-8del (n.632-8del) n.715-8del | |
| 19 | g.38446464C>T | CA2584893032 | RYR1 | c.632-8C>T (n.632-8C>T) n.715-8C>T | gnomAD v4 |
| 19 | g.38446467_38446468del | CA2576770215 | RYR1 | c.632-5_632-4del (n.632-5_632-4del) n.715-5_715-4del | |
| 19 | g.38446467T>C | CA2584893033 | RYR1 | c.632-5T>C (n.632-5T>C) n.715-5T>C | gnomAD v4 |
| 19 | g.38446468C>A | CA2576770216 | RYR1 | c.632-4C>A (n.632-4C>A) n.715-4C>A | |
| 19 | g.38446469C= | CA2335027096 | RYR1 | c.632-3C= (n.632-3C=) n.715-3C= | |
| 19 | g.38446469C>T | CA633065922 | RYR1 | c.632-3C>T (n.632-3C>T) n.715-3C>T | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38446470A>C | CA405679183 | RYR1 | c.632-2A>C (n.632-2A>C) n.715-2A>C | |
| 19 | g.38446470A>G | CA405679184 | RYR1 | c.632-2A>G (n.632-2A>G) n.715-2A>G | gnomAD v4 |
| 19 | g.38446470A>T | CA405679188 | RYR1 | c.632-2A>T (n.632-2A>T) n.715-2A>T | |
| 19 | g.38446471G>A | CA405679191 | RYR1 | c.632-1G>A (n.632-1G>A) n.715-1G>A | |
| 19 | g.38446471G>C | CA405679193 | RYR1 | c.632-1G>C (n.632-1G>C) n.715-1G>C | |
| 19 | g.38446471G>T | CA405679197 | RYR1 | c.632-1G>T (n.632-1G>T) n.715-1G>T | |
| 19 | g.38446472G>A | CA405679207 | RYR1 | c.632G>A (p.Gly211Asp) n.715G>A | |
| 19 | g.38446472G>C | CA405679202 | RYR1 | c.632G>C (p.Gly211Ala) n.715G>C | |
| 19 | g.38446472G= | CA2335027097 | RYR1 | c.632G= (p.Gly211=) n.715G= | |
| 19 | g.38446472G>T | CA405679204 | RYR1 | c.632G>T (p.Gly211Val) n.715G>T | dbSNP gnomAD v4 |
| 19 | g.38446473C>A | CA507241414 | RYR1 | c.633C>A (p.Gly211=) n.716C>A | |
| 19 | g.38446473C>G | CA507241415 | RYR1 | c.633C>G (p.Gly211=) n.716C>G | |
| 19 | g.38446473C>T | CA507241418 | RYR1 | c.633C>T (p.Gly211=) n.716C>T | |
| 19 | g.38446474T>A | CA405679211 | RYR1 | c.634T>A (p.Phe212Ile) n.717T>A | gnomAD v4 |
| 19 | g.38446474T>C | CA405679214 | RYR1 | c.634T>C (p.Phe212Leu) n.717T>C | |
| 19 | g.38446474T>G | CA405679217 | RYR1 | c.634T>G (p.Phe212Val) n.717T>G | |
| 19 | g.38446475T>A | CA405679221 | RYR1 | c.635T>A (p.Phe212Tyr) n.718T>A | |
| 19 | g.38446475T>C | CA308114136 | RYR1 | c.635T>C (p.Phe212Ser) n.718T>C | dbSNP |
| 19 | g.38446475T>G | CA405679225 | RYR1 | c.635T>G (p.Phe212Cys) n.718T>G | |
| 19 | g.38446475T= | CA2335027098 | RYR1 | c.635T= (p.Phe212=) n.718T= | |
| 19 | g.38446476C>A | CA405679230 | RYR1 | c.636C>A (p.Phe212Leu) n.719C>A | |
| 19 | g.38446476C= | CA2335027099 | RYR1 | c.636C= (p.Phe212=) n.719C= | |
| 19 | g.38446476C>G | CA405679234 | RYR1 | c.636C>G (p.Phe212Leu) n.719C>G | |
| 19 | g.38446476C>T | CA068162 | RYR1 | c.636C>T (p.Phe212=) n.719C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38446477G>A | CA068174 | RYR1 | c.637G>A (p.Val213Met) n.720G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38446477G>C | CA405679239 | RYR1 | c.637G>C (p.Val213Leu) n.720G>C | ClinVar gnomAD v4 |
| 19 | g.38446477G= | CA2335027100 | RYR1 | c.637G= (p.Val213=) n.720G= | |
| 19 | g.38446477G>T | CA405679242 | RYR1 | c.637G>T (p.Val213Leu) n.720G>T | gnomAD v4 |
| 19 | g.38446478T>A | CA405679246 | RYR1 | c.638T>A (p.Val213Glu) n.721T>A | |
| 19 | g.38446478T>C | CA405679255 | RYR1 | c.638T>C (p.Val213Ala) n.721T>C | |
| 19 | g.38446478T>G | CA405679251 | RYR1 | c.638T>G (p.Val213Gly) n.721T>G | |
| 19 | g.38446479G>A | CA507241424 | RYR1 | c.639G>A (p.Val213=) n.722G>A | ClinVar dbSNP |
| 19 | g.38446479G>C | CA507241425 | RYR1 | c.639G>C (p.Val213=) n.722G>C | dbSNP |
| 19 | g.38446479G= | CA2335027101 | RYR1 | c.639G= (p.Val213=) n.722G= | |
| 19 | g.38446479G>T | CA507241427 | RYR1 | c.639G>T (p.Val213=) n.722G>T | dbSNP |
| 19 | g.38446480A= | CA2335027102 | RYR1 | c.640A= (p.Thr214=) n.723A= | |
| 19 | g.38446480A>C | CA405679257 | RYR1 | c.640A>C (p.Thr214Pro) n.723A>C | |
| 19 | g.38446480A>G | CA068223 | RYR1 | c.640A>G (p.Thr214Ala) n.723A>G | ClinVar dbSNP ExAC gnomAD v4 |
| 19 | g.38446480A>T | CA405679263 | RYR1 | c.640A>T (p.Thr214Ser) n.723A>T | |
| 19 | g.38446481C>A | CA405679267 | RYR1 | c.641C>A (p.Thr214Lys) n.724C>A | |
| 19 | g.38446481C= | CA2335027103 | RYR1 | c.641C= (p.Thr214=) n.724C= | |
| 19 | g.38446481C>G | CA405679271 | RYR1 | c.641C>G (p.Thr214Arg) n.724C>G | |
| 19 | g.38446481C>T | CA024581 | RYR1 | c.641C>T (p.Thr214Met) n.724C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38446482G>A | CA507241429 | RYR1 | c.642G>A (p.Thr214=) n.725G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38446482G>C | CA507241430 | RYR1 | c.642G>C (p.Thr214=) n.725G>C | |
| 19 | g.38446482G= | CA2335027104 | RYR1 | c.642G= (p.Thr214=) n.725G= | |
| 19 | g.38446482G>T | CA507241431 | RYR1 | c.642G>T (p.Thr214=) n.725G>T | |
| 19 | g.38446483G>A | CA405679273 | RYR1 | c.643G>A (p.Gly215Arg) n.726G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38446483G>C | CA405679274 | RYR1 | c.643G>C (p.Gly215Arg) n.726G>C | |
| 19 | g.38446483G= | CA2335027105 | RYR1 | c.643G= (p.Gly215=) n.726G= | |
| 19 | g.38446483G>T | CA405679278 | RYR1 | c.643G>T (p.Gly215Ter) n.726G>T | ClinVar |
| 19 | g.38446484G>A | CA024583 | RYR1 | c.644G>A (p.Gly215Glu) n.727G>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.38446484G>C | CA405679284 | RYR1 | c.644G>C (p.Gly215Ala) n.727G>C | gnomAD v4 |
| 19 | g.38446484G= | CA2335027106 | RYR1 | c.644G= (p.Gly215=) n.727G= | |
| 19 | g.38446484G>T | CA405679285 | RYR1 | c.644G>T (p.Gly215Val) n.727G>T | |
| 19 | g.38446485A>C | CA507241434 | RYR1 | c.645A>C (p.Gly215=) n.728A>C | |
| 19 | g.38446485A>G | CA507241435 | RYR1 | c.645A>G (p.Gly215=) n.728A>G | |
| 19 | g.38446485A>T | CA507241433 | RYR1 | c.645A>T (p.Gly215=) n.728A>T | |
| 19 | g.38446486G>A | CA405679296 | RYR1 | c.646G>A (p.Gly216Ser) n.729G>A | |
| 19 | g.38446486G>C | CA405679289 | RYR1 | c.646G>C (p.Gly216Arg) n.729G>C | |
| 19 | g.38446486G>T | CA405679291 | RYR1 | c.646G>T (p.Gly216Cys) n.729G>T | gnomAD v4 |
| 19 | g.38446487G>A | CA405679301 | RYR1 | c.647G>A (p.Gly216Asp) n.730G>A | gnomAD v4 |
| 19 | g.38446487G>C | CA405679305 | RYR1 | c.647G>C (p.Gly216Ala) n.730G>C | |
| 19 | g.38446487G>T | CA405679307 | RYR1 | c.647G>T (p.Gly216Val) n.730G>T | gnomAD v4 |
| 19 | g.38446488T>A | CA507241439 | RYR1 | c.648T>A (p.Gly216=) n.731T>A | |
| 19 | g.38446488T>C | CA507241440 | RYR1 | c.648T>C (p.Gly216=) n.731T>C | |
| 19 | g.38446488T>G | CA507241441 | RYR1 | c.648T>G (p.Gly216=) n.731T>G | |
| 19 | g.38446489C>A | CA405679310 | RYR1 | c.649C>A (p.His217Asn) n.732C>A | |
| 19 | g.38446489C>G | CA405679312 | RYR1 | c.649C>G (p.His217Asp) n.732C>G | |
| 19 | g.38446489C>T | CA405679316 | RYR1 | c.649C>T (p.His217Tyr) n.732C>T | |
| 19 | g.38446490A= | CA2335027107 | RYR1 | c.650A= (p.His217=) n.733A= | |
| 19 | g.38446490A>C | CA405679320 | RYR1 | c.650A>C (p.His217Pro) n.733A>C | dbSNP |
| 19 | g.38446490A>G | CA405679323 | RYR1 | c.650A>G (p.His217Arg) n.733A>G | |
| 19 | g.38446490A>T | CA405679330 | RYR1 | c.650A>T (p.His217Leu) n.733A>T | |
| 19 | g.38446491C>A | CA405679334 | RYR1 | c.651C>A (p.His217Gln) n.734C>A | |
| 19 | g.38446491C= | CA2335027108 | RYR1 | c.651C= (p.His217=) n.734C= | |
| 19 | g.38446491C>G | CA405679338 | RYR1 | c.651C>G (p.His217Gln) n.734C>G | |
| 19 | g.38446491C>T | CA068324 | RYR1 | c.651C>T (p.His217=) n.734C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38446492G>A | CA024605 | RYR1 | c.652G>A (p.Val218Ile) n.735G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38446492G>C | CA405679355 | RYR1 | c.652G>C (p.Val218Leu) n.735G>C | |
| 19 | g.38446492G= | CA2335027109 | RYR1 | c.652G= (p.Val218=) n.735G= | |
| 19 | g.38446492G>T | CA405679349 | RYR1 | c.652G>T (p.Val218Phe) n.735G>T | |
| 19 | g.38446493T>A | CA405679371 | RYR1 | c.653T>A (p.Val218Asp) n.736T>A | |
| 19 | g.38446493T>C | CA405679363 | RYR1 | c.653T>C (p.Val218Ala) n.736T>C | |
| 19 | g.38446493T>G | CA405679366 | RYR1 | c.653T>G (p.Val218Gly) n.736T>G | |
| 19 | g.38446494C>A | CA507241444 | RYR1 | c.654C>A (p.Val218=) n.737C>A | |
| 19 | g.38446494C= | CA2335027110 | RYR1 | c.654C= (p.Val218=) n.737C= | |
| 19 | g.38446494C>G | CA507241445 | RYR1 | c.654C>G (p.Val218=) n.737C>G | |
| 19 | g.38446494C>T | CA068425 | RYR1 | c.654C>T (p.Val218=) n.737C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38446495C>A | CA405679376 | RYR1 | c.655C>A (p.Leu219Ile) n.738C>A | |
| 19 | g.38446495C>G | CA405679378 | RYR1 | c.655C>G (p.Leu219Val) n.738C>G | gnomAD v4 |
| 19 | g.38446495C>T | CA405679381 | RYR1 | c.655C>T (p.Leu219Phe) n.738C>T | gnomAD v4 |
| 19 | g.38446496T>A | CA405679396 | RYR1 | c.656T>A (p.Leu219His) n.739T>A | |
| 19 | g.38446496T>C | CA405679393 | RYR1 | c.656T>C (p.Leu219Pro) n.739T>C | |
| 19 | g.38446496T>G | CA405679386 | RYR1 | c.656T>G (p.Leu219Arg) n.739T>G | |
| 19 | g.38446497C>A | CA507241448 | RYR1 | c.657C>A (p.Leu219=) n.740C>A | |
| 19 | g.38446497C>G | CA507241450 | RYR1 | c.657C>G (p.Leu219=) n.740C>G | |
| 19 | g.38446497C>T | CA507241449 | RYR1 | c.657C>T (p.Leu219=) n.740C>T | |
| 19 | g.38446498C>A | CA405679400 | RYR1 | c.658C>A (p.Arg220Ser) n.741C>A | dbSNP |
| 19 | g.38446498C= | CA2335027111 | RYR1 | c.658C= (p.Arg220=) n.741C= | |
| 19 | g.38446498C>G | CA405679402 | RYR1 | c.658C>G (p.Arg220Gly) n.741C>G | |
| 19 | g.38446498C>T | CA405679405 | RYR1 | c.658C>T (p.Arg220Cys) n.741C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38446499G>A | CA068462 | RYR1 | c.659G>A (p.Arg220His) n.742G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38446499G>C | CA405679418 | RYR1 | c.659G>C (p.Arg220Pro) n.742G>C | |
| 19 | g.38446499G= | CA2335027112 | RYR1 | c.659G= (p.Arg220=) n.742G= | |
| 19 | g.38446499G>T | CA405679426 | RYR1 | c.659G>T (p.Arg220Leu) n.742G>T | |
| 19 | g.38446500C>A | CA507241451 | RYR1 | c.660C>A (p.Arg220=) n.743C>A | |
| 19 | g.38446500C>G | CA507241452 | RYR1 | c.660C>G (p.Arg220=) n.743C>G | |
| 19 | g.38446500C>T | CA507241453 | RYR1 | c.660C>T (p.Arg220=) n.743C>T | |
| 19 | g.38446501C>A | CA405679431 | RYR1 | c.661C>A (p.Leu221Ile) n.744C>A | |
| 19 | g.38446501C= | CA2335027113 | RYR1 | c.661C= (p.Leu221=) n.744C= | |
| 19 | g.38446501C>G | CA405679440 | RYR1 | c.661C>G (p.Leu221Val) n.744C>G | gnomAD v4 |
| 19 | g.38446501C>T | CA405679435 | RYR1 | c.661C>T (p.Leu221Phe) n.744C>T | ClinVar dbSNP |
| 19 | g.38446502T>A | CA405679443 | RYR1 | c.662T>A (p.Leu221His) n.745T>A | |
| 19 | g.38446502T>C | CA405679446 | RYR1 | c.662T>C (p.Leu221Pro) n.745T>C | gnomAD v4 |
| 19 | g.38446502T>G | CA405679451 | RYR1 | c.662T>G (p.Leu221Arg) n.745T>G | |
| 19 | g.38446503C>A | CA507241454 | RYR1 | c.663C>A (p.Leu221=) n.746C>A | |
| 19 | g.38446503C= | CA2335027114 | RYR1 | c.663C= (p.Leu221=) n.746C= | |
| 19 | g.38446503C>G | CA308114146 | RYR1 | c.663C>G (p.Leu221=) n.746C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38446503C>T | CA068502 | RYR1 | c.663C>T (p.Leu221=) n.746C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38446504T>A | CA405679456 | RYR1 | c.664T>A (p.Phe222Ile) n.747T>A | |
| 19 | g.38446504T>C | CA405679460 | RYR1 | c.664T>C (p.Phe222Leu) n.747T>C | |
| 19 | g.38446504T>G | CA405679465 | RYR1 | c.664T>G (p.Phe222Val) n.747T>G | |
| 19 | g.38446505T>A | CA405679468 | RYR1 | c.665T>A (p.Phe222Tyr) n.748T>A | |
| 19 | g.38446505T>C | CA405679470 | RYR1 | c.665T>C (p.Phe222Ser) n.748T>C | |
| 19 | g.38446505T>G | CA405679471 | RYR1 | c.665T>G (p.Phe222Cys) n.748T>G | |
| 19 | g.38446506T>A | CA405679474 | RYR1 | c.666T>A (p.Phe222Leu) n.749T>A | |
| 19 | g.38446506T>C | CA507241457 | RYR1 | c.666T>C (p.Phe222=) n.749T>C | |
| 19 | g.38446506T>G | CA405679479 | RYR1 | c.666T>G (p.Phe222Leu) n.749T>G | |
| 19 | g.38446507C>A | CA405679483 | RYR1 | c.667C>A (p.His223Asn) n.750C>A | |
| 19 | g.38446507C>G | CA405679491 | RYR1 | c.667C>G (p.His223Asp) n.750C>G | |
| 19 | g.38446507C>T | CA405679488 | RYR1 | c.667C>T (p.His223Tyr) n.750C>T | |
| 19 | g.38446508A= | CA2335027115 | RYR1 | c.668A= (p.His223=) n.751A= | |
| 19 | g.38446508A>C | CA405679496 | RYR1 | c.668A>C (p.His223Pro) n.751A>C | |
| 19 | g.38446508A>G | CA068570 | RYR1 | c.668A>G (p.His223Arg) n.751A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38446508A>T | CA405679508 | RYR1 | c.668A>T (p.His223Leu) n.751A>T | |
| 19 | g.38446509T>A | CA405679510 | RYR1 | c.669T>A (p.His223Gln) n.752T>A | |
| 19 | g.38446509T>C | CA507241461 | RYR1 | c.669T>C (p.His223=) n.752T>C | dbSNP |
| 19 | g.38446509T>G | CA405679512 | RYR1 | c.669T>G (p.His223Gln) n.752T>G | |
| 19 | g.38446509T= | CA2335027116 | RYR1 | c.669T= (p.His223=) n.752T= | |
| 19 | g.38446510G>A | CA405679515 | RYR1 | c.670G>A (p.Gly224Arg) n.753G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38446510G>C | CA405679514 | RYR1 | c.670G>C (p.Gly224Arg) n.753G>C | |
| 19 | g.38446510G= | CA2335027117 | RYR1 | c.670G= (p.Gly224=) n.753G= | |
| 19 | g.38446510G>T | CA405679513 | RYR1 | c.670G>T (p.Gly224Ter) n.753G>T | COSMIC |
| 19 | g.38446511G>A | CA405679517 | RYR1 | c.671G>A (p.Gly224Glu) n.754G>A | |
| 19 | g.38446511G>C | CA405679519 | RYR1 | c.671G>C (p.Gly224Ala) n.754G>C | |
| 19 | g.38446511G>T | CA405679522 | RYR1 | c.671G>T (p.Gly224Val) n.754G>T | |
| 19 | g.38446512A>C | CA507241464 | RYR1 | c.672A>C (p.Gly224=) n.755A>C | |
| 19 | g.38446512A>G | CA507241462 | RYR1 | c.672A>G (p.Gly224=) n.755A>G | |
| 19 | g.38446512A>T | CA507241463 | RYR1 | c.672A>T (p.Gly224=) n.755A>T | |
| 19 | g.38446513C>A | CA405679524 | RYR1 | c.673C>A (p.His225Asn) n.756C>A | |
| 19 | g.38446513C>G | CA405679527 | RYR1 | c.673C>G (p.His225Asp) n.756C>G | |
| 19 | g.38446513C>T | CA405679530 | RYR1 | c.673C>T (p.His225Tyr) n.756C>T | |
| 19 | g.38446514A= | CA2335027118 | RYR1 | c.674A= (p.His225=) n.757A= | |
| 19 | g.38446514A>C | CA405679531 | RYR1 | c.674A>C (p.His225Pro) n.757A>C | |
| 19 | g.38446514A>G | CA405679536 | RYR1 | c.674A>G (p.His225Arg) n.757A>G | gnomAD v4 |
| 19 | g.38446514A>T | CA405679534 | RYR1 | c.674A>T (p.His225Leu) n.757A>T | dbSNP gnomAD v2 |
| 19 | g.38446515T>A | CA405679540 | RYR1 | c.675T>A (p.His225Gln) n.758T>A | |
| 19 | g.38446515T>C | CA507241465 | RYR1 | c.675T>C (p.His225=) n.758T>C | |
| 19 | g.38446515T>G | CA068650 | RYR1 | c.675T>G (p.His225Gln) n.758T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38446515T= | CA2335027119 | RYR1 | c.675T= (p.His225=) n.758T= | |
| 19 | g.38446516A= | CA2335027120 | RYR1 | c.676A= (p.Met226=) n.759A= | |
| 19 | g.38446516A>C | CA405679560 | RYR1 | c.676A>C (p.Met226Leu) n.759A>C | |
| 19 | g.38446516A>G | CA405679561 | RYR1 | c.676A>G (p.Met226Val) n.759A>G | ClinVar dbSNP gnomAD v4 |
| 19 | g.38446516A>T | CA405679564 | RYR1 | c.676A>T (p.Met226Leu) n.759A>T | |
| 19 | g.38446517T>A | CA024646 | RYR1 | c.677T>A (p.Met226Lys) n.760T>A | ClinVar dbSNP |
| 19 | g.38446517T>C | CA068666 | RYR1 | c.677T>C (p.Met226Thr) n.760T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38446517T>G | CA405679573 | RYR1 | c.677T>G (p.Met226Arg) n.760T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38446517T= | CA2335027121 | RYR1 | c.677T= (p.Met226=) n.760T= | |
| 19 | g.38446518G>A | CA405679579 | RYR1 | c.678G>A (p.Met226Ile) n.761G>A | gnomAD v4 |
| 19 | g.38446518G>C | CA405679582 | RYR1 | c.678G>C (p.Met226Ile) n.761G>C | |
| 19 | g.38446518G>T | CA405679585 | RYR1 | c.678G>T (p.Met226Ile) n.761G>T | |
| 19 | g.38446518_38446520dup | CA2584893034 | RYR1 | c.678_680dup (p.Met226_Asp227insGlu) n.761_763dup | gnomAD v4 |
| 19 | g.38446519G>A | CA405679593 | RYR1 | c.679G>A (p.Asp227Asn) n.762G>A | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38446519G>C | CA405679596 | RYR1 | c.679G>C (p.Asp227His) n.762G>C | |
| 19 | g.38446519G= | CA2335027122 | RYR1 | c.679G= (p.Asp227=) n.762G= | |
| 19 | g.38446519G>T | CA405679590 | RYR1 | c.679G>T (p.Asp227Tyr) n.762G>T | gnomAD v4 |
| 19 | g.38446520A= | CA2335027123 | RYR1 | c.680A= (p.Asp227=) n.763A= | |
| 19 | g.38446520A>C | CA405679598 | RYR1 | c.680A>C (p.Asp227Ala) n.763A>C | |
| 19 | g.38446520A>G | CA405679600 | RYR1 | c.680A>G (p.Asp227Gly) n.763A>G | |
| 19 | g.38446520A>T | CA024649 | RYR1 | c.680A>T (p.Asp227Val) n.763A>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.38446521T>A | CA405679603 | RYR1 | c.681T>A (p.Asp227Glu) n.764T>A | |
| 19 | g.38446521T>C | CA507241468 | RYR1 | c.681T>C (p.Asp227=) n.764T>C | gnomAD v4 |
| 19 | g.38446521T>G | CA405679605 | RYR1 | c.681T>G (p.Asp227Glu) n.764T>G | |
| 19 | g.38446522G>A | CA405679608 | RYR1 | c.682G>A (p.Glu228Lys) n.765G>A | ClinVar dbSNP |
| 19 | g.38446522G>C | CA405679610 | RYR1 | c.682G>C (p.Glu228Gln) n.765G>C | |
| 19 | g.38446522G>T | CA405679612 | RYR1 | c.682G>T (p.Glu228Ter) n.765G>T | |
| 19 | g.38446523A= | CA2335027124 | RYR1 | c.683A= (p.Glu228=) n.766A= | |
| 19 | g.38446523A>C | CA405679613 | RYR1 | c.683A>C (p.Glu228Ala) n.766A>C | |
| 19 | g.38446523A>G | CA405679614 | RYR1 | c.683A>G (p.Glu228Gly) n.766A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38446523A>T | CA405679615 | RYR1 | c.683A>T (p.Glu228Val) n.766A>T | gnomAD v4 |
| 19 | g.38446524G>A | CA507241471 | RYR1 | c.684G>A (p.Glu228=) n.767G>A | ClinVar dbSNP |
| 19 | g.38446524G>C | CA405679616 | RYR1 | c.684G>C (p.Glu228Asp) n.767G>C | |
| 19 | g.38446524G>T | CA405679618 | RYR1 | c.684G>T (p.Glu228Asp) n.767G>T | |
| 19 | g.38446524_38446528delinsGTGTC | CA2335027125 | RYR1 | c.684_688delinsGTGTC (p.Glu228=) n.767_771delinsGTGTC |