Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38502829_38502847delinsAGCAGAGCGGGCCTGGACGCA2335054732RYR1c.7836-51_7836-33delinsAGCAGAGCGGGCCTGGACG (n.7836-51_7836-33delinsAGCAGAGCGGGCCTGGACG)
c.7833-51_7833-33delinsAGCAGAGCGGGCCTGGACG (n.7833-51_7833-33delinsAGCAGAGCGGGCCTGGACG)
c.1288-51_1288-33delinsAGCAGAGCGGGCCTGGACG
n.7919-51_7919-33delinsAGCAGAGCGGGCCTGGACG
19g.38502831_38502847delCA2584901094RYR1c.7836-49_7836-33del (n.7836-49_7836-33del)
c.7833-49_7833-33del (n.7833-49_7833-33del)
c.1288-49_1288-33del
n.7919-49_7919-33del
gnomAD v4
19g.38502831_38502848delCA633066342RYR1c.7836-49_7836-32del (n.7836-49_7836-32del)
c.7833-49_7833-32del (n.7833-49_7833-32del)
c.1288-49_1288-32del
n.7919-49_7919-32del
dbSNP gnomAD v2 gnomAD v4
19g.38502831_38502846delCA995718931RYR1c.7836-49_7836-34del (n.7836-49_7836-34del)
c.7833-49_7833-34del (n.7833-49_7833-34del)
c.1288-49_1288-34del
n.7919-49_7919-34del
gnomAD v3 gnomAD v4
19g.38502836_38502847delCA2584901108RYR1c.7836-44_7836-33del (n.7836-44_7836-33del)
c.7833-44_7833-33del (n.7833-44_7833-33del)
c.1288-44_1288-33del
n.7919-44_7919-33del
gnomAD v4
19g.38502840_38502843delCA2584901110RYR1c.7836-40_7836-37del (n.7836-40_7836-37del)
c.7833-40_7833-37del (n.7833-40_7833-37del)
c.1288-40_1288-37del
n.7919-40_7919-37del
gnomAD v4
19g.38502841_38502844delCA995718993RYR1c.7836-39_7836-36del (n.7836-39_7836-36del)
c.7833-39_7833-36del (n.7833-39_7833-36del)
c.1288-39_1288-36del
n.7919-39_7919-36del
gnomAD v3 gnomAD v4
19g.38502842_38502843delinsTGCA2335054750RYR1c.7836-38_7836-37delinsTG (n.7836-38_7836-37delinsTG)
c.7833-38_7833-37delinsTG (n.7833-38_7833-37delinsTG)
c.1288-38_1288-37delinsTG
n.7919-38_7919-37delinsTG
19g.38502843G>ACA070650RYR1c.7836-37G>A (n.7836-37G>A)
c.7833-37G>A (n.7833-37G>A)
c.1288-37G>A
n.7919-37G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502843G>CCA070656RYR1c.7836-37G>C (n.7836-37G>C)
c.7833-37G>C (n.7833-37G>C)
c.1288-37G>C
n.7919-37G>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502843G=CA2335054752RYR1c.7836-37G= (n.7836-37G=)
c.7833-37G= (n.7833-37G=)
c.1288-37G=
n.7919-37G=
19g.38502843G>TCA2584901113RYR1c.7836-37G>T (n.7836-37G>T)
c.7833-37G>T (n.7833-37G>T)
c.1288-37G>T
n.7919-37G>T
gnomAD v4
19g.38502844delCA9415894RYR1c.7836-36del (n.7836-36del)
c.7833-36del (n.7833-36del)
c.1288-36del
n.7919-36del
dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502844G>ACA633066357RYR1c.7836-36G>A (n.7836-36G>A)
c.7833-36G>A (n.7833-36G>A)
c.1288-36G>A
n.7919-36G>A
dbSNP gnomAD v2 gnomAD v4
19g.38502844G=CA2335054753RYR1c.7836-36G= (n.7836-36G=)
c.7833-36G= (n.7833-36G=)
c.1288-36G=
n.7919-36G=
19g.38502844G>TCA082820RYR1c.7836-36G>T (n.7836-36G>T)
c.7833-36G>T (n.7833-36G>T)
c.1288-36G>T
n.7919-36G>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502845A=CA2335054754RYR1c.7836-35A= (n.7836-35A=)
c.7833-35A= (n.7833-35A=)
c.1288-35A=
n.7919-35A=
19g.38502845A>CCA2335054755RYR1c.7836-35A>C (n.7836-35A>C)
c.7833-35A>C (n.7833-35A>C)
c.1288-35A>C
n.7919-35A>C
dbSNP
19g.38502845A>GCA633066358RYR1c.7836-35A>G (n.7836-35A>G)
c.7833-35A>G (n.7833-35A>G)
c.1288-35A>G
n.7919-35A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502845_38502846delinsCGCA082814RYR1c.7836-35_7836-34delinsCG (n.7836-35_7836-34delinsCG)
c.7833-35_7833-34delinsCG (n.7833-35_7833-34delinsCG)
c.1288-35_1288-34delinsCG
n.7919-35_7919-34delinsCG
19g.38502846delCA995719010RYR1c.7836-34del (n.7836-34del)
c.7833-34del (n.7833-34del)
c.1288-34del
n.7919-34del
gnomAD v3 gnomAD v4
19g.38502846C>ACA2584901114RYR1c.7836-34C>A (n.7836-34C>A)
c.7833-34C>A (n.7833-34C>A)
c.1288-34C>A
n.7919-34C>A
gnomAD v4
19g.38502846C=CA2335054756RYR1c.7836-34C= (n.7836-34C=)
c.7833-34C= (n.7833-34C=)
c.1288-34C=
n.7919-34C=
19g.38502846C>GCA070641RYR1c.7836-34C>G (n.7836-34C>G)
c.7833-34C>G (n.7833-34C>G)
c.1288-34C>G
n.7919-34C>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502846C>TCA070642RYR1c.7836-34C>T (n.7836-34C>T)
c.7833-34C>T (n.7833-34C>T)
c.1288-34C>T
n.7919-34C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502846_38502847delinsCGCA2335054757RYR1c.7836-34_7836-33delinsCG (n.7836-34_7836-33delinsCG)
c.7833-34_7833-33delinsCG (n.7833-34_7833-33delinsCG)
c.1288-34_1288-33delinsCG
n.7919-34_7919-33delinsCG
19g.38502847G>ACA633066359RYR1c.7836-33G>A (n.7836-33G>A)
c.7833-33G>A (n.7833-33G>A)
c.1288-33G>A
n.7919-33G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502847G>CCA633066360RYR1c.7836-33G>C (n.7836-33G>C)
c.7833-33G>C (n.7833-33G>C)
c.1288-33G>C
n.7919-33G>C
dbSNP gnomAD v2 gnomAD v4
19g.38502847G=CA2335054758RYR1c.7836-33G= (n.7836-33G=)
c.7833-33G= (n.7833-33G=)
c.1288-33G=
n.7919-33G=
19g.38502847G>TCA082810RYR1c.7836-33G>T (n.7836-33G>T)
c.7833-33G>T (n.7833-33G>T)
c.1288-33G>T
n.7919-33G>T
gnomAD v3 gnomAD v4
19g.38502851delCA2335054759RYR1c.7836-29del (n.7836-29del)
c.7833-29del (n.7833-29del)
c.1288-29del
n.7919-29del
dbSNP
19g.38502848G>ACA2584901115RYR1c.7836-32G>A (n.7836-32G>A)
c.7833-32G>A (n.7833-32G>A)
c.1288-32G>A
n.7919-32G>A
gnomAD v4
19g.38502848G>TCA2584901116RYR1c.7836-32G>T (n.7836-32G>T)
c.7833-32G>T (n.7833-32G>T)
c.1288-32G>T
n.7919-32G>T
gnomAD v4
19g.38502849G>ACA070640RYR1c.7836-31G>A (n.7836-31G>A)
c.7833-31G>A (n.7833-31G>A)
c.1288-31G>A
n.7919-31G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502849G>CCA308113188RYR1c.7836-31G>C (n.7836-31G>C)
c.7833-31G>C (n.7833-31G>C)
c.1288-31G>C
n.7919-31G>C
dbSNP gnomAD v3 gnomAD v4
19g.38502849G=CA2335054760RYR1c.7836-31G= (n.7836-31G=)
c.7833-31G= (n.7833-31G=)
c.1288-31G=
n.7919-31G=
19g.38502849G>TCA2584901117RYR1c.7836-31G>T (n.7836-31G>T)
c.7833-31G>T (n.7833-31G>T)
c.1288-31G>T
n.7919-31G>T
gnomAD v4
19g.38502850G>ACA070634RYR1c.7836-30G>A (n.7836-30G>A)
c.7833-30G>A (n.7833-30G>A)
c.1288-30G>A
n.7919-30G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502850G>CCA2584901118RYR1c.7836-30G>C (n.7836-30G>C)
c.7833-30G>C (n.7833-30G>C)
c.1288-30G>C
n.7919-30G>C
gnomAD v4
19g.38502850G=CA2335054761RYR1c.7836-30G= (n.7836-30G=)
c.7833-30G= (n.7833-30G=)
c.1288-30G=
n.7919-30G=
19g.38502850G>TCA633066361RYR1c.7836-30G>T (n.7836-30G>T)
c.7833-30G>T (n.7833-30G>T)
c.1288-30G>T
n.7919-30G>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502851G>ACA9415899RYR1c.7836-29G>A (n.7836-29G>A)
c.7833-29G>A (n.7833-29G>A)
c.1288-29G>A
n.7919-29G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502851G>CCA9415898RYR1c.7836-29G>C (n.7836-29G>C)
c.7833-29G>C (n.7833-29G>C)
c.1288-29G>C
n.7919-29G>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502851G=CA2335054762RYR1c.7836-29G= (n.7836-29G=)
c.7833-29G= (n.7833-29G=)
c.1288-29G=
n.7919-29G=
19g.38502851G>TCA9415900RYR1c.7836-29G>T (n.7836-29G>T)
c.7833-29G>T (n.7833-29G>T)
c.1288-29G>T
n.7919-29G>T
dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502851_38502852delinsGACA2335054763RYR1c.7836-29_7836-28delinsGA (n.7836-29_7836-28delinsGA)
c.7833-29_7833-28delinsGA (n.7833-29_7833-28delinsGA)
c.1288-29_1288-28delinsGA
n.7919-29_7919-28delinsGA
19g.38502852delCA9415897RYR1c.7836-28del (n.7836-28del)
c.7833-28del (n.7833-28del)
c.1288-28del
n.7919-28del
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502852A=CA2335054764RYR1c.7836-28A= (n.7836-28A=)
c.7833-28A= (n.7833-28A=)
c.1288-28A=
n.7919-28A=
19g.38502852A>CCA882054398RYR1c.7836-28A>C (n.7836-28A>C)
c.7833-28A>C (n.7833-28A>C)
c.1288-28A>C
n.7919-28A>C
dbSNP gnomAD v3 gnomAD v4
19g.38502852A>GCA995719078RYR1c.7836-28A>G (n.7836-28A>G)
c.7833-28A>G (n.7833-28A>G)
c.1288-28A>G
n.7919-28A>G
dbSNP gnomAD v3 gnomAD v4
19g.38502852A>TCA070614RYR1c.7836-28A>T (n.7836-28A>T)
c.7833-28A>T (n.7833-28A>T)
c.1288-28A>T
n.7919-28A>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502852dupCA9415896RYR1c.7836-28dup (n.7836-28dup)
c.7833-28dup (n.7833-28dup)
c.1288-28dup
n.7919-28dup
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502853T>CCA995719088RYR1c.7836-27T>C (n.7836-27T>C)
c.7833-27T>C (n.7833-27T>C)
c.1288-27T>C
n.7919-27T>C
dbSNP gnomAD v3 gnomAD v4
19g.38502853T>GCA633066362RYR1c.7836-27T>G (n.7836-27T>G)
c.7833-27T>G (n.7833-27T>G)
c.1288-27T>G
n.7919-27T>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502853T=CA2335054765RYR1c.7836-27T= (n.7836-27T=)
c.7833-27T= (n.7833-27T=)
c.1288-27T=
n.7919-27T=
19g.38502854T>ACA070607RYR1c.7836-26T>A (n.7836-26T>A)
c.7833-26T>A (n.7833-26T>A)
c.1288-26T>A
n.7919-26T>A
dbSNP ExAC gnomAD v4
19g.38502854T>CCA070610RYR1c.7836-26T>C (n.7836-26T>C)
c.7833-26T>C (n.7833-26T>C)
c.1288-26T>C
n.7919-26T>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502854T>GCA995719093RYR1c.7836-26T>G (n.7836-26T>G)
c.7833-26T>G (n.7833-26T>G)
c.1288-26T>G
n.7919-26T>G
gnomAD v3 gnomAD v4
19g.38502854T=CA2335054766RYR1c.7836-26T= (n.7836-26T=)
c.7833-26T= (n.7833-26T=)
c.1288-26T=
n.7919-26T=
19g.38502854_38502855delinsAACA082795RYR1c.7836-26_7836-25delinsAA (n.7836-26_7836-25delinsAA)
c.7833-26_7833-25delinsAA (n.7833-26_7833-25delinsAA)
c.1288-26_1288-25delinsAA
n.7919-26_7919-25delinsAA
19g.38502854_38502855insGCA2335054767RYR1c.7836-26_7836-25insG (n.7836-26_7836-25insG)
c.7833-26_7833-25insG (n.7833-26_7833-25insG)
c.1288-26_1288-25insG
n.7919-26_7919-25insG
dbSNP
19g.38502855C=CA2335054768RYR1c.7836-25C= (n.7836-25C=)
c.7833-25C= (n.7833-25C=)
c.1288-25C=
n.7919-25C=
19g.38502855C>GCA070598RYR1c.7836-25C>G (n.7836-25C>G)
c.7833-25C>G (n.7833-25C>G)
c.1288-25C>G
n.7919-25C>G
dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502855C>TCA082793RYR1c.7836-25C>T (n.7836-25C>T)
c.7833-25C>T (n.7833-25C>T)
c.1288-25C>T
n.7919-25C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502856T>ACA2584901119RYR1c.7836-24T>A (n.7836-24T>A)
c.7833-24T>A (n.7833-24T>A)
c.1288-24T>A
n.7919-24T>A
gnomAD v4
19g.38502856T>CCA633066363RYR1c.7836-24T>C (n.7836-24T>C)
c.7833-24T>C (n.7833-24T>C)
c.1288-24T>C
n.7919-24T>C
dbSNP gnomAD v2 gnomAD v4
19g.38502856T=CA2335054769RYR1c.7836-24T= (n.7836-24T=)
c.7833-24T= (n.7833-24T=)
c.1288-24T=
n.7919-24T=
19g.38502857A=CA2335054770RYR1c.7836-23A= (n.7836-23A=)
c.7833-23A= (n.7833-23A=)
c.1288-23A=
n.7919-23A=
19g.38502857A>CCA995719104RYR1c.7836-23A>C (n.7836-23A>C)
c.7833-23A>C (n.7833-23A>C)
c.1288-23A>C
n.7919-23A>C
gnomAD v3 gnomAD v4
19g.38502857A>GCA070597RYR1c.7836-23A>G (n.7836-23A>G)
c.7833-23A>G (n.7833-23A>G)
c.1288-23A>G
n.7919-23A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502857A>TCA2518344338RYR1c.7836-23A>T (n.7836-23A>T)
c.7833-23A>T (n.7833-23A>T)
c.1288-23A>T
n.7919-23A>T
19g.38502858C>ACA633066364RYR1c.7836-22C>A (n.7836-22C>A)
c.7833-22C>A (n.7833-22C>A)
c.1288-22C>A
n.7919-22C>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502858C=CA2335054771RYR1c.7836-22C= (n.7836-22C=)
c.7833-22C= (n.7833-22C=)
c.1288-22C=
n.7919-22C=
19g.38502858C>GCA082788RYR1c.7836-22C>G (n.7836-22C>G)
c.7833-22C>G (n.7833-22C>G)
c.1288-22C>G
n.7919-22C>G
19g.38502858C>TCA070591RYR1c.7836-22C>T (n.7836-22C>T)
c.7833-22C>T (n.7833-22C>T)
c.1288-22C>T
n.7919-22C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502859A=CA2335054772RYR1c.7836-21A= (n.7836-21A=)
c.7833-21A= (n.7833-21A=)
c.1288-21A=
n.7919-21A=
19g.38502859A>CCA070586RYR1c.7836-21A>C (n.7836-21A>C)
c.7833-21A>C (n.7833-21A>C)
c.1288-21A>C
n.7919-21A>C
dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502859A>GCA2335054773RYR1c.7836-21A>G (n.7836-21A>G)
c.7833-21A>G (n.7833-21A>G)
c.1288-21A>G
n.7919-21A>G
dbSNP gnomAD v4
19g.38502859dupCA9415901RYR1c.7836-21dup (n.7836-21dup)
c.7833-21dup (n.7833-21dup)
c.1288-21dup
n.7919-21dup
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502860T>ACA633066365RYR1c.7836-20T>A (n.7836-20T>A)
c.7833-20T>A (n.7833-20T>A)
c.1288-20T>A
n.7919-20T>A
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502860T>GCA995719110RYR1c.7836-20T>G (n.7836-20T>G)
c.7833-20T>G (n.7833-20T>G)
c.1288-20T>G
n.7919-20T>G
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38502860T=CA2335054774RYR1c.7836-20T= (n.7836-20T=)
c.7833-20T= (n.7833-20T=)
c.1288-20T=
n.7919-20T=
19g.38502861C>ACA633066366RYR1c.7836-19C>A (n.7836-19C>A)
c.7833-19C>A (n.7833-19C>A)
c.1288-19C>A
n.7919-19C>A
ClinVar dbSNP gnomAD v2
19g.38502861C=CA2335054775RYR1c.7836-19C= (n.7836-19C=)
c.7833-19C= (n.7833-19C=)
c.1288-19C=
n.7919-19C=
19g.38502861C>GCA658799200RYR1c.7836-19C>G (n.7836-19C>G)
c.7833-19C>G (n.7833-19C>G)
c.1288-19C>G
n.7919-19C>G
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38502861C>TCA070582RYR1c.7836-19C>T (n.7836-19C>T)
c.7833-19C>T (n.7833-19C>T)
c.1288-19C>T
n.7919-19C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502862T>GCA070579RYR1c.7836-18T>G (n.7836-18T>G)
c.7833-18T>G (n.7833-18T>G)
c.1288-18T>G
n.7919-18T>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502862T=CA2335054776RYR1c.7836-18T= (n.7836-18T=)
c.7833-18T= (n.7833-18T=)
c.1288-18T=
n.7919-18T=
19g.38502863T>ACA633066367RYR1c.7836-17T>A (n.7836-17T>A)
c.7833-17T>A (n.7833-17T>A)
c.1288-17T>A
n.7919-17T>A
dbSNP gnomAD v2
19g.38502863T>CCA070575RYR1c.7836-17T>C (n.7836-17T>C)
c.7833-17T>C (n.7833-17T>C)
c.1288-17T>C
n.7919-17T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502863T>GCA633066368RYR1c.7836-17T>G (n.7836-17T>G)
c.7833-17T>G (n.7833-17T>G)
c.1288-17T>G
n.7919-17T>G
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502863T=CA2335054777RYR1c.7836-17T= (n.7836-17T=)
c.7833-17T= (n.7833-17T=)
c.1288-17T=
n.7919-17T=
19g.38502864G>ACA070572RYR1c.7836-16G>A (n.7836-16G>A)
c.7833-16G>A (n.7833-16G>A)
c.1288-16G>A
n.7919-16G>A
dbSNP ExAC gnomAD v2
19g.38502864G>CCA2584901120RYR1c.7836-16G>C (n.7836-16G>C)
c.7833-16G>C (n.7833-16G>C)
c.1288-16G>C
n.7919-16G>C
gnomAD v4
19g.38502864G=CA2335054778RYR1c.7836-16G= (n.7836-16G=)
c.7833-16G= (n.7833-16G=)
c.1288-16G=
n.7919-16G=
19g.38502864G>TCA2576771137RYR1c.7836-16G>T (n.7836-16G>T)
c.7833-16G>T (n.7833-16G>T)
c.1288-16G>T
n.7919-16G>T
19g.38502865T>ACA2584901121RYR1c.7836-15T>A (n.7836-15T>A)
c.7833-15T>A (n.7833-15T>A)
c.1288-15T>A
n.7919-15T>A
gnomAD v4
19g.38502865T>CCA2576771138RYR1c.7836-15T>C (n.7836-15T>C)
c.7833-15T>C (n.7833-15T>C)
c.1288-15T>C
n.7919-15T>C
ClinVar gnomAD v4
19g.38502865T>GCA082780RYR1c.7836-15T>G (n.7836-15T>G)
c.7833-15T>G (n.7833-15T>G)
c.1288-15T>G
n.7919-15T>G
dbSNP gnomAD v4
19g.38502865T=CA2335054779RYR1c.7836-15T= (n.7836-15T=)
c.7833-15T= (n.7833-15T=)
c.1288-15T=
n.7919-15T=
19g.38502866G>ACA882054462RYR1c.7836-14G>A (n.7836-14G>A)
c.7833-14G>A (n.7833-14G>A)
c.1288-14G>A
n.7919-14G>A
ClinVar dbSNP gnomAD v4
19g.38502866G=CA2335054780RYR1c.7836-14G= (n.7836-14G=)
c.7833-14G= (n.7833-14G=)
c.1288-14G=
n.7919-14G=
19g.38502866G>TCA308113278RYR1c.7836-14G>T (n.7836-14G>T)
c.7833-14G>T (n.7833-14G>T)
c.1288-14G>T
n.7919-14G>T
dbSNP gnomAD v3 gnomAD v4
19g.38502867C>ACA308113279RYR1c.7836-13C>A (n.7836-13C>A)
c.7833-13C>A (n.7833-13C>A)
c.1288-13C>A
n.7919-13C>A
ClinVar dbSNP
19g.38502867C=CA2335054781RYR1c.7836-13C= (n.7836-13C=)
c.7833-13C= (n.7833-13C=)
c.1288-13C=
n.7919-13C=
19g.38502867C>GCA10587320RYR1c.7836-13C>G (n.7836-13C>G)
c.7833-13C>G (n.7833-13C>G)
c.1288-13C>G
n.7919-13C>G
ClinVar dbSNP gnomAD v4
19g.38502867C>TCA070567RYR1c.7836-13C>T (n.7836-13C>T)
c.7833-13C>T (n.7833-13C>T)
c.1288-13C>T
n.7919-13C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502868A=CA2335054782RYR1c.7836-12A= (n.7836-12A=)
c.7833-12A= (n.7833-12A=)
c.1288-12A=
n.7919-12A=
19g.38502868A>CCA2584901122RYR1c.7836-12A>C (n.7836-12A>C)
c.7833-12A>C (n.7833-12A>C)
c.1288-12A>C
n.7919-12A>C
gnomAD v4
19g.38502868A>GCA308113289RYR1c.7836-12A>G (n.7836-12A>G)
c.7833-12A>G (n.7833-12A>G)
c.1288-12A>G
n.7919-12A>G
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502869T>CCA070563RYR1c.7836-11T>C (n.7836-11T>C)
c.7833-11T>C (n.7833-11T>C)
c.1288-11T>C
n.7919-11T>C
dbSNP ExAC gnomAD v4
19g.38502869T>GCA2580097217RYR1c.7836-11T>G (n.7836-11T>G)
c.7833-11T>G (n.7833-11T>G)
c.1288-11T>G
n.7919-11T>G
ClinVar
19g.38502869T=CA2335054783RYR1c.7836-11T= (n.7836-11T=)
c.7833-11T= (n.7833-11T=)
c.1288-11T=
n.7919-11T=
19g.38502870T>CCA2584901123RYR1c.7836-10T>C (n.7836-10T>C)
c.7833-10T>C (n.7833-10T>C)
c.1288-10T>C
n.7919-10T>C
ClinVar gnomAD v4
19g.38502870T>GCA633066369RYR1c.7836-10T>G (n.7836-10T>G)
c.7833-10T>G (n.7833-10T>G)
c.1288-10T>G
n.7919-10T>G
dbSNP gnomAD v2 gnomAD v4
19g.38502870T=CA2335054784RYR1c.7836-10T= (n.7836-10T=)
c.7833-10T= (n.7833-10T=)
c.1288-10T=
n.7919-10T=
19g.38502871G>ACA633066370RYR1c.7836-9G>A (n.7836-9G>A)
c.7833-9G>A (n.7833-9G>A)
c.1288-9G>A
n.7919-9G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502871G=CA2335054785RYR1c.7836-9G= (n.7836-9G=)
c.7833-9G= (n.7833-9G=)
c.1288-9G=
n.7919-9G=
19g.38502871G>TCA2335054786RYR1c.7836-9G>T (n.7836-9G>T)
c.7833-9G>T (n.7833-9G>T)
c.1288-9G>T
n.7919-9G>T
dbSNP gnomAD v4
19g.38502872T>ACA2584901124RYR1c.7836-8T>A (n.7836-8T>A)
c.7833-8T>A (n.7833-8T>A)
c.1288-8T>A
n.7919-8T>A
gnomAD v4
19g.38502872T>CCA070784RYR1c.7836-8T>C (n.7836-8T>C)
c.7833-8T>C (n.7833-8T>C)
c.1288-8T>C
n.7919-8T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502872T=CA2335054787RYR1c.7836-8T= (n.7836-8T=)
c.7833-8T= (n.7833-8T=)
c.1288-8T=
n.7919-8T=
19g.38502873C=CA2335054788RYR1c.7836-7C= (n.7836-7C=)
c.7833-7C= (n.7833-7C=)
c.1288-7C=
n.7919-7C=
19g.38502873C>GCA2814347365RYR1c.7836-7C>G (n.7836-7C>G)
c.7833-7C>G (n.7833-7C>G)
c.1288-7C>G
n.7919-7C>G
19g.38502873C>TCA070780RYR1c.7836-7C>T (n.7836-7C>T)
c.7833-7C>T (n.7833-7C>T)
c.1288-7C>T
n.7919-7C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502874C=CA2335054789RYR1c.7836-6C= (n.7836-6C=)
c.7833-6C= (n.7833-6C=)
c.1288-6C=
n.7919-6C=
19g.38502874C>GCA308113304RYR1c.7836-6C>G (n.7836-6C>G)
c.7833-6C>G (n.7833-6C>G)
c.1288-6C>G
n.7919-6C>G
dbSNP gnomAD v4
19g.38502874C>TCA070758RYR1c.7836-6C>T (n.7836-6C>T)
c.7833-6C>T (n.7833-6C>T)
c.1288-6C>T
n.7919-6C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502875C>ACA2499225471RYR1c.7836-5C>A (n.7836-5C>A)
c.7833-5C>A (n.7833-5C>A)
c.1288-5C>A
n.7919-5C>A
ClinVar dbSNP gnomAD v4
19g.38502875C=CA2335054790RYR1c.7836-5C= (n.7836-5C=)
c.7833-5C= (n.7833-5C=)
c.1288-5C=
n.7919-5C=
19g.38502875C>GCA633066371RYR1c.7836-5C>G (n.7836-5C>G)
c.7833-5C>G (n.7833-5C>G)
c.1288-5C>G
n.7919-5C>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502875C>TCA633066372RYR1c.7836-5C>T (n.7836-5C>T)
c.7833-5C>T (n.7833-5C>T)
c.1288-5C>T
n.7919-5C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502876G>ACA070721RYR1c.7836-4G>A (n.7836-4G>A)
c.7833-4G>A (n.7833-4G>A)
c.1288-4G>A
n.7919-4G>A
ClinVar dbSNP ExAC gnomAD v4
19g.38502876G>CCA2584901125RYR1c.7836-4G>C (n.7836-4G>C)
c.7833-4G>C (n.7833-4G>C)
c.1288-4G>C
n.7919-4G>C
gnomAD v4
19g.38502876G=CA2335054791RYR1c.7836-4G= (n.7836-4G=)
c.7833-4G= (n.7833-4G=)
c.1288-4G=
n.7919-4G=
19g.38502876G>TCA645612040RYR1c.7836-4G>T (n.7836-4G>T)
c.7833-4G>T (n.7833-4G>T)
c.1288-4G>T
n.7919-4G>T
gnomAD v4 COSMIC
19g.38502877C>ACA2576771139RYR1c.7836-3C>A (n.7836-3C>A)
c.7833-3C>A (n.7833-3C>A)
c.1288-3C>A
n.7919-3C>A
19g.38502877C=CA2335054792RYR1c.7836-3C= (n.7836-3C=)
c.7833-3C= (n.7833-3C=)
c.1288-3C=
n.7919-3C=
19g.38502877C>GCA2580097218RYR1c.7836-3C>G (n.7836-3C>G)
c.7833-3C>G (n.7833-3C>G)
c.1288-3C>G
n.7919-3C>G
ClinVar gnomAD v4
19g.38502877C>TCA082854RYR1c.7836-3C>T (n.7836-3C>T)
c.7833-3C>T (n.7833-3C>T)
c.1288-3C>T
n.7919-3C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502878A=CA2335054793RYR1c.7836-2A= (n.7836-2A=)
c.7833-2A= (n.7833-2A=)
c.1288-2A=
n.7919-2A=
19g.38502878A>CCA405673458RYR1c.7836-2A>C (n.7836-2A>C)
c.7833-2A>C (n.7833-2A>C)
c.1288-2A>C
n.7919-2A>C
gnomAD v4
19g.38502878A>GCA405673469RYR1c.7836-2A>G (n.7836-2A>G)
c.7833-2A>G (n.7833-2A>G)
c.1288-2A>G
n.7919-2A>G
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502878A>TCA405673472RYR1c.7836-2A>T (n.7836-2A>T)
c.7833-2A>T (n.7833-2A>T)
c.1288-2A>T
n.7919-2A>T
19g.38502879G>ACA082842RYR1c.7836-1G>A (n.7836-1G>A)
c.7833-1G>A (n.7833-1G>A)
c.1288-1G>A
n.7919-1G>A
ClinVar dbSNP gnomAD v4
19g.38502879G>CCA405673477RYR1c.7836-1G>C (n.7836-1G>C)
c.7833-1G>C (n.7833-1G>C)
c.1288-1G>C
n.7919-1G>C
19g.38502879G=CA2335054794RYR1c.7836-1G= (n.7836-1G=)
c.7833-1G= (n.7833-1G=)
c.1288-1G=
n.7919-1G=
19g.38502879G>TCA405673480RYR1c.7836-1G>T (n.7836-1G>T)
c.7833-1G>T (n.7833-1G>T)
c.1288-1G>T
n.7919-1G>T
gnomAD v4 COSMIC
19g.38502880G>ACA024866RYR1c.7836G>A (p.Arg2612=)
c.7833G>A (p.Arg2611=)
c.1288G>A
n.7919G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502880G>CCA405673484RYR1c.7836G>C (p.Arg2612Ser)
c.7833G>C (p.Arg2611Ser)
c.1288G>C
n.7919G>C
19g.38502880G=CA2335054795RYR1c.7836G= (p.Arg2612=)
c.7833G= (p.Arg2611=)
c.1288G=
n.7919G=
19g.38502880G>TCA070796RYR1c.7836G>T (p.Arg2612Ser)
c.7833G>T (p.Arg2611Ser)
c.1288G>T
n.7919G>T
dbSNP ExAC gnomAD v3 gnomAD v4
19g.38502881T>ACA405673497RYR1c.7837T>A (p.Tyr2613Asn)
c.7834T>A (p.Tyr2612Asn)
c.1289T>A
n.7920T>A
gnomAD v4
19g.38502881T>CCA405673493RYR1c.7837T>C (p.Tyr2613His)
c.7834T>C (p.Tyr2612His)
c.1289T>C
n.7920T>C
gnomAD v4
19g.38502881T>GCA405673491RYR1c.7837T>G (p.Tyr2613Asp)
c.7834T>G (p.Tyr2612Asp)
c.1289T>G
n.7920T>G
dbSNP
19g.38502882A=CA2335054796RYR1c.7838A= (p.Tyr2613=)
c.7835A= (p.Tyr2612=)
c.1290A=
n.7921A=
19g.38502882A>CCA070800RYR1c.7838A>C (p.Tyr2613Ser)
c.7835A>C (p.Tyr2612Ser)
c.1290A>C
n.7921A>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502882A>GCA405673509RYR1c.7838A>G (p.Tyr2613Cys)
c.7835A>G (p.Tyr2612Cys)
c.1290A>G
n.7921A>G
dbSNP COSMIC
19g.38502882A>TCA405673511RYR1c.7838A>T (p.Tyr2613Phe)
c.7835A>T (p.Tyr2612Phe)
c.1290A>T
n.7921A>T
19g.38502883C>ACA405673513RYR1c.7839C>A (p.Tyr2613Ter)
c.7836C>A (p.Tyr2612Ter)
c.1291C>A
n.7922C>A
dbSNP
19g.38502883C=CA2335054797RYR1c.7839C= (p.Tyr2613=)
c.7836C= (p.Tyr2612=)
c.1291C=
n.7922C=
19g.38502883C>GCA405673515RYR1c.7839C>G (p.Tyr2613Ter)
c.7836C>G (p.Tyr2612Ter)
c.1291C>G
n.7922C>G
19g.38502883C>TCA070806RYR1c.7839C>T (p.Tyr2613=)
c.7836C>T (p.Tyr2612=)
c.1291C>T
n.7922C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502884A=CA2335054798RYR1c.7840A= (p.Ile2614=)
c.7837A= (p.Ile2613=)
c.1292A=
n.7923A=
19g.38502884A>CCA405673518RYR1c.7840A>C (p.Ile2614Leu)
c.7837A>C (p.Ile2613Leu)
c.1292A>C
n.7923A>C
19g.38502884A>GCA405673521RYR1c.7840A>G (p.Ile2614Val)
c.7837A>G (p.Ile2613Val)
c.1292A>G
n.7923A>G
dbSNP
19g.38502884A>TCA405673523RYR1c.7840A>T (p.Ile2614Phe)
c.7837A>T (p.Ile2613Phe)
c.1292A>T
n.7923A>T
19g.38502884_38502885insGGGGCCA082719RYR1c.7840_7841insGGGGC (p.Ile2614ArgfsTer?)
c.7837_7838insGGGGC (p.Ile2613ArgfsTer?)
c.1292_1293insGGGGC
n.7923_7924insGGGGC
19g.38502885T>ACA405673525RYR1c.7841T>A (p.Ile2614Asn)
c.7838T>A (p.Ile2613Asn)
c.1293T>A
n.7924T>A
ClinVar dbSNP gnomAD v4
19g.38502885T>CCA405673527RYR1c.7841T>C (p.Ile2614Thr)
c.7838T>C (p.Ile2613Thr)
c.1293T>C
n.7924T>C
dbSNP gnomAD v2 gnomAD v4
19g.38502885T>GCA405673529RYR1c.7841T>G (p.Ile2614Ser)
c.7838T>G (p.Ile2613Ser)
c.1293T>G
n.7924T>G
gnomAD v4
19g.38502885T=CA2335054799RYR1c.7841T= (p.Ile2614=)
c.7838T= (p.Ile2613=)
c.1293T=
n.7924T=
19g.38502886C>ACA507354024RYR1c.7842C>A (p.Ile2614=)
c.7839C>A (p.Ile2613=)
c.1294C>A
n.7925C>A
19g.38502886C=CA2335054800RYR1c.7842C= (p.Ile2614=)
c.7839C= (p.Ile2613=)
c.1294C=
n.7925C=
19g.38502886C>GCA405673531RYR1c.7842C>G (p.Ile2614Met)
c.7839C>G (p.Ile2613Met)
c.1294C>G
n.7925C>G
ClinVar gnomAD v4
19g.38502886C>TCA070814RYR1c.7842C>T (p.Ile2614=)
c.7839C>T (p.Ile2613=)
c.1294C>T
n.7925C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502886_38502887delinsAACA082762RYR1c.7842_7843delinsAA (p.Arg2615Ser)
c.7839_7840delinsAA (p.Arg2614Ser)
c.1294_1295delinsAA
n.7925_7926delinsAA
19g.38502887C>ACA405673540RYR1c.7843C>A (p.Arg2615Ser)
c.7840C>A (p.Arg2614Ser)
c.1295C>A
n.7926C>A
gnomAD v4
19g.38502887C=CA2335054801RYR1c.7843C= (p.Arg2615=)
c.7840C= (p.Arg2614=)
c.1295C=
n.7926C=
19g.38502887C>GCA405673541RYR1c.7843C>G (p.Arg2615Gly)
c.7840C>G (p.Arg2614Gly)
c.1295C>G
n.7926C>G
ClinVar gnomAD v4
19g.38502887C>TCA405673535RYR1c.7843C>T (p.Arg2615Cys)
c.7840C>T (p.Arg2614Cys)
c.1295C>T
n.7926C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502888G>ACA070820RYR1c.7844G>A (p.Arg2615His)
c.7841G>A (p.Arg2614His)
c.1296G>A
n.7927G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502888G>CCA405673546RYR1c.7844G>C (p.Arg2615Pro)
c.7841G>C (p.Arg2614Pro)
c.1296G>C
n.7927G>C
gnomAD v4
19g.38502888G=CA2335054802RYR1c.7844G= (p.Arg2615=)
c.7841G= (p.Arg2614=)
c.1296G=
n.7927G=
19g.38502888G>TCA405673547RYR1c.7844G>T (p.Arg2615Leu)
c.7841G>T (p.Arg2614Leu)
c.1296G>T
n.7927G>T
gnomAD v4
19g.38502888_38502889delinsGCCA2335054803RYR1c.7844_7845delinsGC (p.Arg2615=)
c.7841_7842delinsGC (p.Arg2614=)
c.1296_1297delinsGC
n.7927_7928delinsGC
19g.38502889C>ACA507354030RYR1c.7845C>A (p.Arg2615=)
c.7842C>A (p.Arg2614=)
c.1297C>A
n.7928C>A
19g.38502889C=CA2335054804RYR1c.7845C= (p.Arg2615=)
c.7842C= (p.Arg2614=)
c.1297C=
n.7928C=
19g.38502889C>GCA082767RYR1c.7845C>G (p.Arg2615=)
c.7842C>G (p.Arg2614=)
c.1297C>G
n.7928C>G
ClinVar gnomAD v4
19g.38502889C>TCA082769RYR1c.7845C>T (p.Arg2615=)
c.7842C>T (p.Arg2614=)
c.1297C>T
n.7928C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502891delCA1139666424RYR1c.7847del (p.Pro2616ArgfsTer?)
c.7844del (p.Pro2615ArgfsTer?)
c.1299del
n.7930del
ClinVar dbSNP
19g.38502890C>ACA405673550RYR1c.7846C>A (p.Pro2616Thr)
c.7843C>A (p.Pro2615Thr)
c.1298C>A
n.7929C>A
gnomAD v4
19g.38502890C>GCA405673553RYR1c.7846C>G (p.Pro2616Ala)
c.7843C>G (p.Pro2615Ala)
c.1298C>G
n.7929C>G
19g.38502890C>TCA405673565RYR1c.7846C>T (p.Pro2616Ser)
c.7843C>T (p.Pro2615Ser)
c.1298C>T
n.7929C>T
ClinVar dbSNP gnomAD v4
19g.38502891C>ACA405673574RYR1c.7847C>A (p.Pro2616Gln)
c.7844C>A (p.Pro2615Gln)
c.1299C>A
n.7930C>A
19g.38502891C=CA2335054805RYR1c.7847C= (p.Pro2616=)
c.7844C= (p.Pro2615=)
c.1299C=
n.7930C=
19g.38502891C>GCA405673568RYR1c.7847C>G (p.Pro2616Arg)
c.7844C>G (p.Pro2615Arg)
c.1299C>G
n.7930C>G
ClinVar dbSNP
19g.38502891C>TCA405673570RYR1c.7847C>T (p.Pro2616Leu)
c.7844C>T (p.Pro2615Leu)
c.1299C>T
n.7930C>T
COSMIC
19g.38502892G>ACA070828RYR1c.7848G>A (p.Pro2616=)
c.7845G>A (p.Pro2615=)
c.1300G>A
n.7931G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502892G>CCA308113326RYR1c.7848G>C (p.Pro2616=)
c.7845G>C (p.Pro2615=)
c.1300G>C
n.7931G>C
ClinVar dbSNP gnomAD v4
19g.38502892G=CA2335054806RYR1c.7848G= (p.Pro2616=)
c.7845G= (p.Pro2615=)
c.1300G=
n.7931G=
19g.38502892G>TCA507354034RYR1c.7848G>T (p.Pro2616=)
c.7845G>T (p.Pro2615=)
c.1300G>T
n.7931G>T
ClinVar dbSNP gnomAD v4
19g.38502893T>ACA405673580RYR1c.7849T>A (p.Ser2617Thr)
c.7846T>A (p.Ser2616Thr)
c.1301T>A
n.7932T>A
19g.38502893T>CCA405673583RYR1c.7849T>C (p.Ser2617Pro)
c.7846T>C (p.Ser2616Pro)
c.1301T>C
n.7932T>C
gnomAD v4
19g.38502893T>GCA405673586RYR1c.7849T>G (p.Ser2617Ala)
c.7846T>G (p.Ser2616Ala)
c.1301T>G
n.7932T>G
19g.38502894C>ACA405673588RYR1c.7850C>A (p.Ser2617Ter)
c.7847C>A (p.Ser2616Ter)
c.1302C>A
n.7933C>A
ClinVar dbSNP
19g.38502894C=CA2335054807RYR1c.7850C= (p.Ser2617=)
c.7847C= (p.Ser2616=)
c.1302C=
n.7933C=
19g.38502894C>GCA082684RYR1c.7850C>G (p.Ser2617Trp)
c.7847C>G (p.Ser2616Trp)
c.1302C>G
n.7933C>G
ClinVar
19g.38502894C>TCA070831RYR1c.7850C>T (p.Ser2617Leu)
c.7847C>T (p.Ser2616Leu)
c.1302C>T
n.7933C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502895G>ACA070838RYR1c.7851G>A (p.Ser2617=)
c.7848G>A (p.Ser2616=)
c.1303G>A
n.7934G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38502895G>CCA507354036RYR1c.7851G>C (p.Ser2617=)
c.7848G>C (p.Ser2616=)
c.1303G>C
n.7934G>C
gnomAD v4
19g.38502895G=CA2335054808RYR1c.7851G= (p.Ser2617=)
c.7848G= (p.Ser2616=)
c.1303G=
n.7934G=
19g.38502895G>TCA507354037RYR1c.7851G>T (p.Ser2617=)
c.7848G>T (p.Ser2616=)
c.1303G>T
n.7934G>T
ClinVar dbSNP gnomAD v4
19g.38502896A=CA2335054809RYR1c.7852A= (p.Met2618=)
c.7849A= (p.Met2617=)
c.1304A=
n.7935A=
19g.38502896A>CCA405673605RYR1c.7852A>C (p.Met2618Leu)
c.7849A>C (p.Met2617Leu)
c.1304A>C
n.7935A>C
gnomAD v4
19g.38502896A>GCA405673611RYR1c.7852A>G (p.Met2618Val)
c.7849A>G (p.Met2617Val)
c.1304A>G
n.7935A>G
dbSNP gnomAD v3 gnomAD v4
19g.38502896A>TCA405673614RYR1c.7852A>T (p.Met2618Leu)
c.7849A>T (p.Met2617Leu)
c.1304A>T
n.7935A>T
19g.38502897T>ACA405673629RYR1c.7853T>A (p.Met2618Lys)
c.7850T>A (p.Met2617Lys)
c.1305T>A
n.7936T>A
gnomAD v4
19g.38502897T>CCA070844RYR1c.7853T>C (p.Met2618Thr)
c.7850T>C (p.Met2617Thr)
c.1305T>C
n.7936T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502897T>GCA405673638RYR1c.7853T>G (p.Met2618Arg)
c.7850T>G (p.Met2617Arg)
c.1305T>G
n.7936T>G
ClinVar gnomAD v4
19g.38502897T=CA2335054810RYR1c.7853T= (p.Met2618=)
c.7850T= (p.Met2617=)
c.1305T=
n.7936T=
19g.38502898G>ACA070853RYR1c.7854G>A (p.Met2618Ile)
c.7851G>A (p.Met2617Ile)
c.1306G>A
n.7937G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502898G>CCA405673645RYR1c.7854G>C (p.Met2618Ile)
c.7851G>C (p.Met2617Ile)
c.1306G>C
n.7937G>C
19g.38502898G=CA2335054811RYR1c.7854G= (p.Met2618=)
c.7851G= (p.Met2617=)
c.1306G=
n.7937G=
19g.38502898G>TCA405673648RYR1c.7854G>T (p.Met2618Ile)
c.7851G>T (p.Met2617Ile)
c.1306G>T
n.7937G>T
gnomAD v4
19g.38502899delCA2584901126RYR1c.7855del (p.Leu2619CysfsTer?)
c.7852del (p.Leu2618CysfsTer?)
c.1307del
n.7938del
ClinVar gnomAD v4
19g.38502899C>ACA405673651RYR1c.7855C>A (p.Leu2619Met)
c.7852C>A (p.Leu2618Met)
c.1307C>A
n.7938C>A
19g.38502899C=CA2335054812RYR1c.7855C= (p.Leu2619=)
c.7852C= (p.Leu2618=)
c.1307C=
n.7938C=
19g.38502899C>GCA405673653RYR1c.7855C>G (p.Leu2619Val)
c.7852C>G (p.Leu2618Val)
c.1307C>G
n.7938C>G
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502899C>TCA070859RYR1c.7855C>T (p.Leu2619=)
c.7852C>T (p.Leu2618=)
c.1307C>T
n.7938C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502900T>ACA405673656RYR1c.7856T>A (p.Leu2619Gln)
c.7853T>A (p.Leu2618Gln)
c.1308T>A
n.7939T>A
dbSNP gnomAD v2
19g.38502900T>CCA082875RYR1c.7856T>C (p.Leu2619Pro)
c.7853T>C (p.Leu2618Pro)
c.1308T>C
n.7939T>C
ClinVar dbSNP
19g.38502900T>GCA405673657RYR1c.7856T>G (p.Leu2619Arg)
c.7853T>G (p.Leu2618Arg)
c.1308T>G
n.7939T>G
19g.38502900T=CA2335054813RYR1c.7856T= (p.Leu2619=)
c.7853T= (p.Leu2618=)
c.1308T=
n.7939T=
19g.38502901_38502902insAGGGTGCA082695RYR1c.7857_7858insAGGGTG (p.Leu2619_Gln2620insArgVal)
c.7854_7855insAGGGTG (p.Leu2618_Gln2619insArgVal)
c.1309_1310insAGGGTG
n.7940_7941insAGGGTG
19g.38502901G>ACA070866RYR1c.7857G>A (p.Leu2619=)
c.7854G>A (p.Leu2618=)
c.1309G>A
n.7940G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502901G>CCA507354040RYR1c.7857G>C (p.Leu2619=)
c.7854G>C (p.Leu2618=)
c.1309G>C
n.7940G>C
ClinVar dbSNP gnomAD v4
19g.38502901G=CA2335054814RYR1c.7857G= (p.Leu2619=)
c.7854G= (p.Leu2618=)
c.1309G=
n.7940G=
19g.38502901G>TCA507354039RYR1c.7857G>T (p.Leu2619=)
c.7854G>T (p.Leu2618=)
c.1309G>T
n.7940G>T
gnomAD v4
19g.38502902C>ACA405673663RYR1c.7858C>A (p.Gln2620Lys)
c.7855C>A (p.Gln2619Lys)
c.1310C>A
n.7941C>A
dbSNP
19g.38502902C=CA2335054815RYR1c.7858C= (p.Gln2620=)
c.7855C= (p.Gln2619=)
c.1310C=
n.7941C=
19g.38502902C>GCA405673659RYR1c.7858C>G (p.Gln2620Glu)
c.7855C>G (p.Gln2619Glu)
c.1310C>G
n.7941C>G
gnomAD v4
19g.38502902C>TCA082877RYR1c.7858C>T (p.Gln2620Ter)
c.7855C>T (p.Gln2619Ter)
c.1310C>T
n.7941C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502903A=CA2335054816RYR1c.7859A= (p.Gln2620=)
c.7856A= (p.Gln2619=)
c.1311A=
n.7942A=
19g.38502903A>CCA405673674RYR1c.7859A>C (p.Gln2620Pro)
c.7856A>C (p.Gln2619Pro)
c.1311A>C
n.7942A>C
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502903A>GCA405673676RYR1c.7859A>G (p.Gln2620Arg)
c.7856A>G (p.Gln2619Arg)
c.1311A>G
n.7942A>G
19g.38502903A>TCA405673680RYR1c.7859A>T (p.Gln2620Leu)
c.7856A>T (p.Gln2619Leu)
c.1311A>T
n.7942A>T
19g.38502904G>ACA070869RYR1c.7860G>A (p.Gln2620=)
c.7857G>A (p.Gln2619=)
c.1312G>A
n.7943G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502904G>CCA405673688RYR1c.7860G>C (p.Gln2620His)
c.7857G>C (p.Gln2619His)
c.1312G>C
n.7943G>C
19g.38502904G=CA2335054817RYR1c.7860G= (p.Gln2620=)
c.7857G= (p.Gln2619=)
c.1312G=
n.7943G=
19g.38502904G>TCA405673689RYR1c.7860G>T (p.Gln2620His)
c.7857G>T (p.Gln2619His)
c.1312G>T
n.7943G>T
19g.38502905C>ACA405673691RYR1c.7861C>A (p.His2621Asn)
c.7858C>A (p.His2620Asn)
c.1313C>A
n.7944C>A
19g.38502905C=CA2335054818RYR1c.7861C= (p.His2621=)
c.7858C= (p.His2620=)
c.1313C=
n.7944C=
19g.38502905C>GCA405673693RYR1c.7861C>G (p.His2621Asp)
c.7858C>G (p.His2620Asp)
c.1313C>G
n.7944C>G
19g.38502905C>TCA070877RYR1c.7861C>T (p.His2621Tyr)
c.7858C>T (p.His2620Tyr)
c.1313C>T
n.7944C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502906A=CA2335054819RYR1c.7862A= (p.His2621=)
c.7859A= (p.His2620=)
c.1314A=
n.7945A=
19g.38502906A>CCA405673706RYR1c.7862A>C (p.His2621Pro)
c.7859A>C (p.His2620Pro)
c.1314A>C
n.7945A>C
dbSNP gnomAD v3 gnomAD v4
19g.38502906A>GCA405673700RYR1c.7862A>G (p.His2621Arg)
c.7859A>G (p.His2620Arg)
c.1314A>G
n.7945A>G
dbSNP gnomAD v2 gnomAD v4
19g.38502906A>TCA405673703RYR1c.7862A>T (p.His2621Leu)
c.7859A>T (p.His2620Leu)
c.1314A>T
n.7945A>T
19g.38502907C>ACA405673709RYR1c.7863C>A (p.His2621Gln)
c.7860C>A (p.His2620Gln)
c.1315C>A
n.7946C>A
19g.38502907C=CA2335054820RYR1c.7863C= (p.His2621=)
c.7860C= (p.His2620=)
c.1315C=
n.7946C=
19g.38502907C>GCA405673729RYR1c.7863C>G (p.His2621Gln)
c.7860C>G (p.His2620Gln)
c.1315C>G
n.7946C>G
ClinVar dbSNP gnomAD v4
19g.38502907C>TCA024868RYR1c.7863C>T (p.His2621=)
c.7860C>T (p.His2620=)
c.1315C>T
n.7946C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502907_38502908delinsCCCA2335054821RYR1c.7863_7864delinsCC (p.His2621=)
c.7860_7861delinsCC (p.His2620=)
c.1315_1316delinsCC
n.7946_7947delinsCC
19g.38502907_38502908delinsTTCA915952999RYR1c.7863_7864delinsTT (p.His2621=)
c.7860_7861delinsTT (p.His2620=)
c.1315_1316delinsTT
n.7946_7947delinsTT
ClinVar dbSNP
19g.38502908C>ACA405673732RYR1c.7864C>A (p.Leu2622Met)
c.7861C>A (p.Leu2621Met)
c.1316C>A
n.7947C>A
19g.38502908C=CA2335054822RYR1c.7864C= (p.Leu2622=)
c.7861C= (p.Leu2621=)
c.1316C=
n.7947C=
19g.38502908C>GCA405673733RYR1c.7864C>G (p.Leu2622Val)
c.7861C>G (p.Leu2621Val)
c.1316C>G
n.7947C>G
ClinVar gnomAD v4
19g.38502908C>TCA082716RYR1c.7864C>T (p.Leu2622=)
c.7861C>T (p.Leu2621=)
c.1316C>T
n.7947C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502909T>ACA405673738RYR1c.7865T>A (p.Leu2622Gln)
c.7862T>A (p.Leu2621Gln)
c.1317T>A
n.7948T>A
19g.38502909T>CCA405673741RYR1c.7865T>C (p.Leu2622Pro)
c.7862T>C (p.Leu2621Pro)
c.1317T>C
n.7948T>C
gnomAD v4
19g.38502909T>GCA405673744RYR1c.7865T>G (p.Leu2622Arg)
c.7862T>G (p.Leu2621Arg)
c.1317T>G
n.7948T>G
19g.38502911_38502913delCA082721RYR1c.7867_7869del (p.Leu2623del)
c.7864_7866del (p.Leu2622del)
c.1319_1321del
n.7950_7952del
19g.38502910G>ACA507354045RYR1c.7866G>A (p.Leu2622=)
c.7863G>A (p.Leu2621=)
c.1318G>A
n.7949G>A
ClinVar dbSNP gnomAD v4
19g.38502910G>CCA507354046RYR1c.7866G>C (p.Leu2622=)
c.7863G>C (p.Leu2621=)
c.1318G>C
n.7949G>C
ClinVar dbSNP
19g.38502910G=CA2335054823RYR1c.7866G= (p.Leu2622=)
c.7863G= (p.Leu2621=)
c.1318G=
n.7949G=
19g.38502910G>TCA507354047RYR1c.7866G>T (p.Leu2622=)
c.7863G>T (p.Leu2621=)
c.1318G>T
n.7949G>T
ClinVar gnomAD v4
19g.38502911T>ACA405673746RYR1c.7867T>A (p.Leu2623Met)
c.7864T>A (p.Leu2622Met)
c.1319T>A
n.7950T>A
gnomAD v4
19g.38502911T>CCA507354048RYR1c.7867T>C (p.Leu2623=)
c.7864T>C (p.Leu2622=)
c.1319T>C
n.7950T>C
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502911T>GCA405673749RYR1c.7867T>G (p.Leu2623Val)
c.7864T>G (p.Leu2622Val)
c.1319T>G
n.7950T>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502911T=CA2335054824RYR1c.7867T= (p.Leu2623=)
c.7864T= (p.Leu2622=)
c.1319T=
n.7950T=
19g.38502912T>ACA405673754RYR1c.7868T>A (p.Leu2623Ter)
c.7865T>A (p.Leu2622Ter)
c.1320T>A
n.7951T>A
19g.38502912T>CCA405673759RYR1c.7868T>C (p.Leu2623Ser)
c.7865T>C (p.Leu2622Ser)
c.1320T>C
n.7951T>C
19g.38502912T>GCA405673751RYR1c.7868T>G (p.Leu2623Trp)
c.7865T>G (p.Leu2622Trp)
c.1320T>G
n.7951T>G
19g.38502913G>ACA070899RYR1c.7869G>A (p.Leu2623=)
c.7866G>A (p.Leu2622=)
c.1321G>A
n.7952G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502913G>CCA405673763RYR1c.7869G>C (p.Leu2623Phe)
c.7866G>C (p.Leu2622Phe)
c.1321G>C
n.7952G>C
ClinVar gnomAD v4
19g.38502913G=CA2335054825RYR1c.7869G= (p.Leu2623=)
c.7866G= (p.Leu2622=)
c.1321G=
n.7952G=
19g.38502913G>TCA405673776RYR1c.7869G>T (p.Leu2623Phe)
c.7866G>T (p.Leu2622Phe)
c.1321G>T
n.7952G>T
gnomAD v4
19g.38502914C>ACA405673782RYR1c.7870C>A (p.Arg2624Ser)
c.7867C>A (p.Arg2623Ser)
c.1322C>A
n.7953C>A
19g.38502914C=CA2335054826RYR1c.7870C= (p.Arg2624=)
c.7867C= (p.Arg2623=)
c.1322C=
n.7953C=
19g.38502914C>GCA405673790RYR1c.7870C>G (p.Arg2624Gly)
c.7867C>G (p.Arg2623Gly)
c.1322C>G
n.7953C>G
gnomAD v4
19g.38502914C>TCA082728RYR1c.7870C>T (p.Arg2624Cys)
c.7867C>T (p.Arg2623Cys)
c.1322C>T
n.7953C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502918_38502955delCA082731RYR1c.7874_7911del (p.Arg2625GlnfsTer12)
c.7871_7908del (p.Arg2624GlnfsTer12)
c.1326_1363del
n.7957_7994del
19g.38502915G>ACA405673794RYR1c.7871G>A (p.Arg2624His)
c.7868G>A (p.Arg2623His)
c.1323G>A
n.7954G>A
dbSNP gnomAD v2 gnomAD v4
19g.38502915G>CCA405673797RYR1c.7871G>C (p.Arg2624Pro)
c.7868G>C (p.Arg2623Pro)
c.1323G>C
n.7954G>C
ClinVar gnomAD v4
19g.38502915G=CA2335054827RYR1c.7871G= (p.Arg2624=)
c.7868G= (p.Arg2623=)
c.1323G=
n.7954G=
19g.38502915G>TCA405673799RYR1c.7871G>T (p.Arg2624Leu)
c.7868G>T (p.Arg2623Leu)
c.1323G>T
n.7954G>T
gnomAD v4
19g.38502916C>ACA070913RYR1c.7872C>A (p.Arg2624=)
c.7869C>A (p.Arg2623=)
c.1324C>A
n.7955C>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502916C=CA2335054828RYR1c.7872C= (p.Arg2624=)
c.7869C= (p.Arg2623=)
c.1324C=
n.7955C=
19g.38502916C>GCA308113415RYR1c.7872C>G (p.Arg2624=)
c.7869C>G (p.Arg2623=)
c.1324C>G
n.7955C>G
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502916C>TCA024870RYR1c.7872C>T (p.Arg2624=)
c.7869C>T (p.Arg2623=)
c.1324C>T
n.7955C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502916_38502917delinsTTCA2573156352RYR1c.7872_7873delinsTT (p.Arg2625Cys)
c.7869_7870delinsTT (p.Arg2624Cys)
c.1324_1325delinsTT
n.7955_7956delinsTT
ClinVar dbSNP
19g.38502917C>ACA405673804RYR1c.7873C>A (p.Arg2625Ser)
c.7870C>A (p.Arg2624Ser)
c.1325C>A
n.7956C>A
19g.38502917C=CA2335054829RYR1c.7873C= (p.Arg2625=)
c.7870C= (p.Arg2624=)
c.1325C=
n.7956C=
19g.38502917C>GCA405673801RYR1c.7873C>G (p.Arg2625Gly)
c.7870C>G (p.Arg2624Gly)
c.1325C>G
n.7956C>G
19g.38502917C>TCA070926RYR1c.7873C>T (p.Arg2625Cys)
c.7870C>T (p.Arg2624Cys)
c.1325C>T
n.7956C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502918G>ACA070928RYR1c.7874G>A (p.Arg2625His)
c.7871G>A (p.Arg2624His)
c.1326G>A
n.7957G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502918G>CCA405673814RYR1c.7874G>C (p.Arg2625Pro)
c.7871G>C (p.Arg2624Pro)
c.1326G>C
n.7957G>C
ClinVar dbSNP
19g.38502918G=CA2335054830RYR1c.7874G= (p.Arg2625=)
c.7871G= (p.Arg2624=)
c.1326G=
n.7957G=
19g.38502918G>TCA070934RYR1c.7874G>T (p.Arg2625Leu)
c.7871G>T (p.Arg2624Leu)
c.1326G>T
n.7957G>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502918_38502926delinsACA082738RYR1c.7874_7882delinsA (p.Arg2625HisfsTer22)
c.7871_7879delinsA (p.Arg2624HisfsTer22)
c.1326_1334delinsA
n.7957_7965delinsA
19g.38502919C>ACA082891RYR1c.7875C>A (p.Arg2625=)
c.7872C>A (p.Arg2624=)
c.1327C>A
n.7958C>A
gnomAD v4
19g.38502919C=CA2335054831RYR1c.7875C= (p.Arg2625=)
c.7872C= (p.Arg2624=)
c.1327C=
n.7958C=
19g.38502919C>GCA070940RYR1c.7875C>G (p.Arg2625=)
c.7872C>G (p.Arg2624=)
c.1327C>G
n.7958C>G
dbSNP ExAC gnomAD v4
19g.38502919C>TCA070942RYR1c.7875C>T (p.Arg2625=)
c.7872C>T (p.Arg2624=)
c.1327C>T
n.7958C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502920C>ACA405673819RYR1c.7876C>A (p.Leu2626Met)
c.7873C>A (p.Leu2625Met)
c.1328C>A
n.7959C>A
gnomAD v4
19g.38502920C=CA2335054832RYR1c.7876C= (p.Leu2626=)
c.7873C= (p.Leu2625=)
c.1328C=
n.7959C=
19g.38502920C>GCA070948RYR1c.7876C>G (p.Leu2626Val)
c.7873C>G (p.Leu2625Val)
c.1328C>G
n.7959C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502920C>TCA070955RYR1c.7876C>T (p.Leu2626=)
c.7873C>T (p.Leu2625=)
c.1328C>T
n.7959C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502920_38502923delinsAGGCCA082745RYR1c.7876_7879delinsAGGC (p.Leu2626_Val2627delinsArgLeu)
c.7873_7876delinsAGGC (p.Leu2625_Val2626delinsArgLeu)
c.1328_1331delinsAGGC
n.7959_7962delinsAGGC
19g.38502921T>ACA405673834RYR1c.7877T>A (p.Leu2626Gln)
c.7874T>A (p.Leu2625Gln)
c.1329T>A
n.7960T>A
dbSNP
19g.38502921T>CCA405673837RYR1c.7877T>C (p.Leu2626Pro)
c.7874T>C (p.Leu2625Pro)
c.1329T>C
n.7960T>C
19g.38502921T>GCA070956RYR1c.7877T>G (p.Leu2626Arg)
c.7874T>G (p.Leu2625Arg)
c.1329T>G
n.7960T>G
dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502921T=CA2335054833RYR1c.7877T= (p.Leu2626=)
c.7874T= (p.Leu2625=)
c.1329T=
n.7960T=
19g.38502922G>ACA070962RYR1c.7878G>A (p.Leu2626=)
c.7875G>A (p.Leu2625=)
c.1330G>A
n.7961G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502922G>CCA070963RYR1c.7878G>C (p.Leu2626=)
c.7875G>C (p.Leu2625=)
c.1330G>C
n.7961G>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502922G=CA2335054834RYR1c.7878G= (p.Leu2626=)
c.7875G= (p.Leu2625=)
c.1330G=
n.7961G=
19g.38502922G>TCA507354059RYR1c.7878G>T (p.Leu2626=)
c.7875G>T (p.Leu2625=)
c.1330G>T
n.7961G>T
gnomAD v4
19g.38502923G>ACA405673885RYR1c.7879G>A (p.Val2627Met)
c.7876G>A (p.Val2626Met)
c.1331G>A
n.7962G>A
ClinVar dbSNP gnomAD v4
19g.38502923G>CCA308113474RYR1c.7879G>C (p.Val2627Leu)
c.7876G>C (p.Val2626Leu)
c.1331G>C
n.7962G>C
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502923G=CA2335054835RYR1c.7879G= (p.Val2627=)
c.7876G= (p.Val2626=)
c.1331G=
n.7962G=
19g.38502923G>TCA405673868RYR1c.7879G>T (p.Val2627Leu)
c.7876G>T (p.Val2626Leu)
c.1331G>T
n.7962G>T
gnomAD v4
19g.38502924T>ACA405673889RYR1c.7880T>A (p.Val2627Glu)
c.7877T>A (p.Val2626Glu)
c.1332T>A
n.7963T>A
19g.38502924T>CCA070969RYR1c.7880T>C (p.Val2627Ala)
c.7877T>C (p.Val2626Ala)
c.1332T>C
n.7963T>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502924T>GCA082908RYR1c.7880T>G (p.Val2627Gly)
c.7877T>G (p.Val2626Gly)
c.1332T>G
n.7963T>G
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502924T=CA2335054836RYR1c.7880T= (p.Val2627=)
c.7877T= (p.Val2626=)
c.1332T=
n.7963T=
19g.38502924_38502939delinsACA082754RYR1c.7880_7895delinsA (p.Val2627_Ile2632delinsAsp)
c.7877_7892delinsA (p.Val2626_Ile2631delinsAsp)
c.1332_1347delinsA
n.7963_7978delinsA
19g.38502925G>ACA070973RYR1c.7881G>A (p.Val2627=)
c.7878G>A (p.Val2626=)
c.1333G>A
n.7964G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502925G>CCA082912RYR1c.7881G>C (p.Val2627=)
c.7878G>C (p.Val2626=)
c.1333G>C
n.7964G>C
19g.38502925G=CA2335054837RYR1c.7881G= (p.Val2627=)
c.7878G= (p.Val2626=)
c.1333G=
n.7964G=
19g.38502925G>TCA507354060RYR1c.7881G>T (p.Val2627=)
c.7878G>T (p.Val2626=)
c.1333G>T
n.7964G>T
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502926_38502929delCA082759RYR1c.7882_7885del (p.Phe2628ThrfsTer?)
c.7879_7882del (p.Phe2627ThrfsTer?)
c.1334_1337del
n.7965_7968del
19g.38502926T>ACA405673894RYR1c.7882T>A (p.Phe2628Ile)
c.7879T>A (p.Phe2627Ile)
c.1334T>A
n.7965T>A
19g.38502926T>CCA405673906RYR1c.7882T>C (p.Phe2628Leu)
c.7879T>C (p.Phe2627Leu)
c.1334T>C
n.7965T>C
19g.38502926T>GCA405673917RYR1c.7882T>G (p.Phe2628Val)
c.7879T>G (p.Phe2627Val)
c.1334T>G
n.7965T>G
19g.38502927T>ACA405673932RYR1c.7883T>A (p.Phe2628Tyr)
c.7880T>A (p.Phe2627Tyr)
c.1335T>A
n.7966T>A
19g.38502927T>CCA082915RYR1c.7883T>C (p.Phe2628Ser)
c.7880T>C (p.Phe2627Ser)
c.1335T>C
n.7966T>C
19g.38502927T>GCA405673943RYR1c.7883T>G (p.Phe2628Cys)
c.7880T>G (p.Phe2627Cys)
c.1335T>G
n.7966T>G
19g.38502928C>ACA405673944RYR1c.7884C>A (p.Phe2628Leu)
c.7881C>A (p.Phe2627Leu)
c.1336C>A
n.7967C>A
19g.38502928C=CA2335054838RYR1c.7884C= (p.Phe2628=)
c.7881C= (p.Phe2627=)
c.1336C=
n.7967C=
19g.38502928C>GCA405673948RYR1c.7884C>G (p.Phe2628Leu)
c.7881C>G (p.Phe2627Leu)
c.1336C>G
n.7967C>G
19g.38502928C>TCA070978RYR1c.7884C>T (p.Phe2628=)
c.7881C>T (p.Phe2627=)
c.1336C>T
n.7967C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502930_38502932dupCA2825002790RYR1c.7886_7888dup (p.Asp2629_Val2630insAsp)
c.7883_7885dup (p.Asp2628_Val2629insAsp)
c.1338_1340dup
n.7969_7971dup
ClinVar
19g.38502929G>ACA405673949RYR1c.7885G>A (p.Asp2629Asn)
c.7882G>A (p.Asp2628Asn)
c.1337G>A
n.7968G>A
dbSNP gnomAD v2
19g.38502929G>CCA405673950RYR1c.7885G>C (p.Asp2629His)
c.7882G>C (p.Asp2628His)
c.1337G>C
n.7968G>C
dbSNP gnomAD v2 gnomAD v4
19g.38502929G=CA2335054839RYR1c.7885G= (p.Asp2629=)
c.7882G= (p.Asp2628=)
c.1337G=
n.7968G=
19g.38502929G>TCA405673951RYR1c.7885G>T (p.Asp2629Tyr)
c.7882G>T (p.Asp2628Tyr)
c.1337G>T
n.7968G>T
19g.38502930A>CCA405673955RYR1c.7886A>C (p.Asp2629Ala)
c.7883A>C (p.Asp2628Ala)
c.1338A>C
n.7969A>C
gnomAD v4
19g.38502930A>GCA405673952RYR1c.7886A>G (p.Asp2629Gly)
c.7883A>G (p.Asp2628Gly)
c.1338A>G
n.7969A>G
19g.38502930A>TCA405673953RYR1c.7886A>T (p.Asp2629Val)
c.7883A>T (p.Asp2628Val)
c.1338A>T
n.7969A>T
gnomAD v4
19g.38502931C>ACA405673961RYR1c.7887C>A (p.Asp2629Glu)
c.7884C>A (p.Asp2628Glu)
c.1339C>A
n.7970C>A
ClinVar gnomAD v4
19g.38502931C=CA2335054840RYR1c.7887C= (p.Asp2629=)
c.7884C= (p.Asp2628=)
c.1339C=
n.7970C=
19g.38502931C>GCA070983RYR1c.7887C>G (p.Asp2629Glu)
c.7884C>G (p.Asp2628Glu)
c.1339C>G
n.7970C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502931C>TCA070988RYR1c.7887C>T (p.Asp2629=)
c.7884C>T (p.Asp2628=)
c.1339C>T
n.7970C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502932G>ACA070994RYR1c.7888G>A (p.Val2630Met)
c.7885G>A (p.Val2629Met)
c.1340G>A
n.7971G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502932G>CCA024872RYR1c.7888G>C (p.Val2630Leu)
c.7885G>C (p.Val2629Leu)
c.1340G>C
n.7971G>C
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502932G=CA2335054841RYR1c.7888G= (p.Val2630=)
c.7885G= (p.Val2629=)
c.1340G=
n.7971G=
19g.38502932G>TCA405673969RYR1c.7888G>T (p.Val2630Leu)
c.7885G>T (p.Val2629Leu)
c.1340G>T
n.7971G>T
gnomAD v4
19g.38502933T>ACA405673970RYR1c.7889T>A (p.Val2630Glu)
c.7886T>A (p.Val2629Glu)
c.1341T>A
n.7972T>A
19g.38502933T>CCA405673972RYR1c.7889T>C (p.Val2630Ala)
c.7886T>C (p.Val2629Ala)
c.1341T>C
n.7972T>C
19g.38502933T>GCA405673975RYR1c.7889T>G (p.Val2630Gly)
c.7886T>G (p.Val2629Gly)
c.1341T>G
n.7972T>G
19g.38502934G>ACA507354069RYR1c.7890G>A (p.Val2630=)
c.7887G>A (p.Val2629=)
c.1342G>A
n.7973G>A
ClinVar dbSNP gnomAD v4
19g.38502934G>CCA10587321RYR1c.7890G>C (p.Val2630=)
c.7887G>C (p.Val2629=)
c.1342G>C
n.7973G>C
ClinVar dbSNP gnomAD v4
19g.38502934G=CA2335054842RYR1c.7890G= (p.Val2630=)
c.7887G= (p.Val2629=)
c.1342G=
n.7973G=
19g.38502934G>TCA082921RYR1c.7890G>T (p.Val2630=)
c.7887G>T (p.Val2629=)
c.1342G>T
n.7973G>T
dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502935C>ACA405674000RYR1c.7891C>A (p.Pro2631Thr)
c.7888C>A (p.Pro2630Thr)
c.1343C>A
n.7974C>A
19g.38502935C>GCA405673998RYR1c.7891C>G (p.Pro2631Ala)
c.7888C>G (p.Pro2630Ala)
c.1343C>G
n.7974C>G
19g.38502935C>TCA405673989RYR1c.7891C>T (p.Pro2631Ser)
c.7888C>T (p.Pro2630Ser)
c.1343C>T
n.7974C>T
gnomAD v4 COSMIC
19g.38502937delCA2584901127RYR1c.7893del (p.Ile2632SerfsTer?)
c.7890del (p.Ile2631SerfsTer?)
c.1345del
n.7976del
gnomAD v4
19g.38502936C>ACA071003RYR1c.7892C>A (p.Pro2631His)
c.7889C>A (p.Pro2630His)
c.1344C>A
n.7975C>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502936C=CA2335054843RYR1c.7892C= (p.Pro2631=)
c.7889C= (p.Pro2630=)
c.1344C=
n.7975C=
19g.38502936C>GCA405674009RYR1c.7892C>G (p.Pro2631Arg)
c.7889C>G (p.Pro2630Arg)
c.1344C>G
n.7975C>G
19g.38502936C>TCA405674012RYR1c.7892C>T (p.Pro2631Leu)
c.7889C>T (p.Pro2630Leu)
c.1344C>T
n.7975C>T
gnomAD v4 COSMIC
19g.38502937C>ACA507354075RYR1c.7893C>A (p.Pro2631=)
c.7890C>A (p.Pro2630=)
c.1345C>A
n.7976C>A
gnomAD v4
19g.38502937C=CA2335054844RYR1c.7893C= (p.Pro2631=)
c.7890C= (p.Pro2630=)
c.1345C=
n.7976C=
19g.38502937C>GCA507354076RYR1c.7893C>G (p.Pro2631=)
c.7890C>G (p.Pro2630=)
c.1345C>G
n.7976C>G
19g.38502937C>TCA071008RYR1c.7893C>T (p.Pro2631=)
c.7890C>T (p.Pro2630=)
c.1345C>T
n.7976C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502938A=CA2335054845RYR1c.7894A= (p.Ile2632=)
c.7891A= (p.Ile2631=)
c.1346A=
n.7977A=
19g.38502938A>CCA405674020RYR1c.7894A>C (p.Ile2632Leu)
c.7891A>C (p.Ile2631Leu)
c.1346A>C
n.7977A>C
19g.38502938A>GCA405674022RYR1c.7894A>G (p.Ile2632Val)
c.7891A>G (p.Ile2631Val)
c.1346A>G
n.7977A>G
dbSNP gnomAD v3 gnomAD v4
19g.38502938A>TCA405674027RYR1c.7894A>T (p.Ile2632Phe)
c.7891A>T (p.Ile2631Phe)
c.1346A>T
n.7977A>T
19g.38502939T>ACA405674041RYR1c.7895T>A (p.Ile2632Asn)
c.7892T>A (p.Ile2631Asn)
c.1347T>A
n.7978T>A
19g.38502939T>CCA405674049RYR1c.7895T>C (p.Ile2632Thr)
c.7892T>C (p.Ile2631Thr)
c.1347T>C
n.7978T>C
19g.38502939T>GCA405674047RYR1c.7895T>G (p.Ile2632Ser)
c.7892T>G (p.Ile2631Ser)
c.1347T>G
n.7978T>G
19g.38502941_38502943delCA2584901128RYR1c.7897_7899del (p.Leu2633del)
c.7894_7896del (p.Leu2632del)
c.1349_1351del
n.7980_7982del
gnomAD v4
19g.38502940C>ACA507354078RYR1c.7896C>A (p.Ile2632=)
c.7893C>A (p.Ile2631=)
c.1348C>A
n.7979C>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502940C=CA2335054846RYR1c.7896C= (p.Ile2632=)
c.7893C= (p.Ile2631=)
c.1348C=
n.7979C=
19g.38502940C>GCA308113557RYR1c.7896C>G (p.Ile2632Met)
c.7893C>G (p.Ile2631Met)
c.1348C>G
n.7979C>G
dbSNP gnomAD v4
19g.38502940C>TCA082929RYR1c.7896C>T (p.Ile2632=)
c.7893C>T (p.Ile2631=)
c.1348C>T
n.7979C>T
19g.38502941C>ACA405674059RYR1c.7897C>A (p.Leu2633Ile)
c.7894C>A (p.Leu2632Ile)
c.1349C>A
n.7980C>A
gnomAD v4
19g.38502941C=CA2335054847RYR1c.7897C= (p.Leu2633=)
c.7894C= (p.Leu2632=)
c.1349C=
n.7980C=
19g.38502941C>GCA071011RYR1c.7897C>G (p.Leu2633Val)
c.7894C>G (p.Leu2632Val)
c.1349C>G
n.7980C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502941C>TCA405674061RYR1c.7897C>T (p.Leu2633Phe)
c.7894C>T (p.Leu2632Phe)
c.1349C>T
n.7980C>T
19g.38502942T>ACA405674065RYR1c.7898T>A (p.Leu2633His)
c.7895T>A (p.Leu2632His)
c.1350T>A
n.7981T>A
19g.38502942T>CCA405674069RYR1c.7898T>C (p.Leu2633Pro)
c.7895T>C (p.Leu2632Pro)
c.1350T>C
n.7981T>C
19g.38502942T>GCA405674067RYR1c.7898T>G (p.Leu2633Arg)
c.7895T>G (p.Leu2632Arg)
c.1350T>G
n.7981T>G
19g.38502943C>ACA507354083RYR1c.7899C>A (p.Leu2633=)
c.7896C>A (p.Leu2632=)
c.1351C>A
n.7982C>A
gnomAD v4
19g.38502943C=CA2335054848RYR1c.7899C= (p.Leu2633=)
c.7896C= (p.Leu2632=)
c.1351C=
n.7982C=
19g.38502943C>GCA507354085RYR1c.7899C>G (p.Leu2633=)
c.7896C>G (p.Leu2632=)
c.1351C>G
n.7982C>G
dbSNP
19g.38502943C>TCA507354084RYR1c.7899C>T (p.Leu2633=)
c.7896C>T (p.Leu2632=)
c.1351C>T
n.7982C>T

Number of alleles fetched