Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38496477G>ACA068616RYR1c.6732G>A (p.Arg2244=)
c.6729G>A (p.Arg2243=)
c.184G>A
n.6815G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38496477G>CCA507353672RYR1c.6732G>C (p.Arg2244=)
c.6729G>C (p.Arg2243=)
c.184G>C
n.6815G>C
19g.38496477G=CA2335051258RYR1c.6732G= (p.Arg2244=)
c.6729G= (p.Arg2243=)
c.184G=
n.6815G=
19g.38496477G>TCA507353673RYR1c.6732G>T (p.Arg2244=)
c.6729G>T (p.Arg2243=)
c.184G>T
n.6815G>T
19g.38496478C>ACA405666301RYR1c.6733C>A (p.Gln2245Lys)
c.6730C>A (p.Gln2244Lys)
c.185C>A
n.6816C>A
19g.38496478C=CA2335051259RYR1c.6733C= (p.Gln2245=)
c.6730C= (p.Gln2244=)
c.185C=
n.6816C=
19g.38496478C>GCA405666302RYR1c.6733C>G (p.Gln2245Glu)
c.6730C>G (p.Gln2244Glu)
c.185C>G
n.6816C>G
19g.38496478C>TCA082178RYR1c.6733C>T (p.Gln2245Ter)
c.6730C>T (p.Gln2244Ter)
c.185C>T
n.6816C>T
 dbSNP gnomAD v2 gnomAD v4
19g.38496479A>CCA405666303RYR1c.6734A>C (p.Gln2245Pro)
c.6731A>C (p.Gln2244Pro)
c.186A>C
n.6817A>C
19g.38496479A>GCA405666304RYR1c.6734A>G (p.Gln2245Arg)
c.6731A>G (p.Gln2244Arg)
c.186A>G
n.6817A>G
 gnomAD v4
19g.38496479A>TCA405666305RYR1c.6734A>T (p.Gln2245Leu)
c.6731A>T (p.Gln2244Leu)
c.186A>T
n.6817A>T
19g.38496480G>ACA082180RYR1c.6735G>A (p.Gln2245=)
c.6732G>A (p.Gln2244=)
c.187G>A
n.6818G>A
19g.38496480G>CCA405666306RYR1c.6735G>C (p.Gln2245His)
c.6732G>C (p.Gln2244His)
c.187G>C
n.6818G>C
19g.38496480G>TCA405666307RYR1c.6735G>T (p.Gln2245His)
c.6732G>T (p.Gln2244His)
c.187G>T
n.6818G>T
19g.38496481A>CCA405666310RYR1c.6736A>C (p.Asn2246His)
c.6733A>C (p.Asn2245His)
c.188A>C
n.6819A>C
19g.38496481A>GCA405666309RYR1c.6736A>G (p.Asn2246Asp)
c.6733A>G (p.Asn2245Asp)
c.188A>G
n.6819A>G
19g.38496481A>TCA405666308RYR1c.6736A>T (p.Asn2246Tyr)
c.6733A>T (p.Asn2245Tyr)
c.188A>T
n.6819A>T
19g.38496482A>CCA405666311RYR1c.6737A>C (p.Asn2246Thr)
c.6734A>C (p.Asn2245Thr)
c.189A>C
n.6820A>C
19g.38496482A>GCA405666312RYR1c.6737A>G (p.Asn2246Ser)
c.6734A>G (p.Asn2245Ser)
c.189A>G
n.6820A>G
19g.38496482A>TCA405666313RYR1c.6737A>T (p.Asn2246Ile)
c.6734A>T (p.Asn2245Ile)
c.189A>T
n.6820A>T
19g.38496483C>ACA405666314RYR1c.6738C>A (p.Asn2246Lys)
c.6735C>A (p.Asn2245Lys)
c.190C>A
n.6821C>A
19g.38496483C=CA2335051260RYR1c.6738C= (p.Asn2246=)
c.6735C= (p.Asn2245=)
c.190C=
n.6821C=
19g.38496483C>GCA405666315RYR1c.6738C>G (p.Asn2246Lys)
c.6735C>G (p.Asn2245Lys)
c.190C>G
n.6821C>G
19g.38496483C>TCA507353675RYR1c.6738C>T (p.Asn2246=)
c.6735C>T (p.Asn2245=)
c.190C>T
n.6821C>T
 ClinVar dbSNP gnomAD v4
19g.38496484C>ACA405666316RYR1c.6739C>A (p.Gln2247Lys)
c.6736C>A (p.Gln2246Lys)
c.191C>A
n.6822C>A
 gnomAD v4
19g.38496484C>GCA405666317RYR1c.6739C>G (p.Gln2247Glu)
c.6736C>G (p.Gln2246Glu)
c.191C>G
n.6822C>G
19g.38496484C>TCA405666318RYR1c.6739C>T (p.Gln2247Ter)
c.6736C>T (p.Gln2246Ter)
c.191C>T
n.6822C>T
 gnomAD v4
19g.38496485A=CA2335051261RYR1c.6740A= (p.Gln2247=)
c.6737A= (p.Gln2246=)
c.192A=
n.6823A=
19g.38496485A>CCA405666319RYR1c.6740A>C (p.Gln2247Pro)
c.6737A>C (p.Gln2246Pro)
c.192A>C
n.6823A>C
19g.38496485A>GCA068620RYR1c.6740A>G (p.Gln2247Arg)
c.6737A>G (p.Gln2246Arg)
c.192A>G
n.6823A>G
 dbSNP ExAC gnomAD v2
19g.38496485A>TCA405666320RYR1c.6740A>T (p.Gln2247Leu)
c.6737A>T (p.Gln2246Leu)
c.192A>T
n.6823A>T
19g.38496486G>ACA507353677RYR1c.6741G>A (p.Gln2247=)
c.6738G>A (p.Gln2246=)
c.193G>A
n.6824G>A
19g.38496486G>CCA405666321RYR1c.6741G>C (p.Gln2247His)
c.6738G>C (p.Gln2246His)
c.193G>C
n.6824G>C
19g.38496486G>TCA405666322RYR1c.6741G>T (p.Gln2247His)
c.6738G>T (p.Gln2246His)
c.193G>T
n.6824G>T
19g.38496487C>ACA405666323RYR1c.6742C>A (p.Arg2248Ser)
c.6739C>A (p.Arg2247Ser)
c.194C>A
n.6825C>A
19g.38496487C=CA2335051262RYR1c.6742C= (p.Arg2248=)
c.6739C= (p.Arg2247=)
c.194C=
n.6825C=
19g.38496487C>GCA405666324RYR1c.6742C>G (p.Arg2248Gly)
c.6739C>G (p.Arg2247Gly)
c.194C>G
n.6825C>G
19g.38496487C>TCA068623RYR1c.6742C>T (p.Arg2248Cys)
c.6739C>T (p.Arg2247Cys)
c.194C>T
n.6825C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38496488G>ACA068627RYR1c.6743G>A (p.Arg2248His)
c.6740G>A (p.Arg2247His)
c.195G>A
n.6826G>A
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
19g.38496488G>CCA405666325RYR1c.6743G>C (p.Arg2248Pro)
c.6740G>C (p.Arg2247Pro)
c.195G>C
n.6826G>C
19g.38496488G=CA2335051263RYR1c.6743G= (p.Arg2248=)
c.6740G= (p.Arg2247=)
c.195G=
n.6826G=
19g.38496488G>TCA405666326RYR1c.6743G>T (p.Arg2248Leu)
c.6740G>T (p.Arg2247Leu)
c.195G>T
n.6826G>T
19g.38496489C>ACA507353682RYR1c.6744C>A (p.Arg2248=)
c.6741C>A (p.Arg2247=)
c.196C>A
n.6827C>A
19g.38496489C=CA2335051264RYR1c.6744C= (p.Arg2248=)
c.6741C= (p.Arg2247=)
c.196C=
n.6827C=
19g.38496489C>GCA507353683RYR1c.6744C>G (p.Arg2248=)
c.6741C>G (p.Arg2247=)
c.196C>G
n.6827C>G
19g.38496489C>TCA068631RYR1c.6744C>T (p.Arg2248=)
c.6741C>T (p.Arg2247=)
c.196C>T
n.6827C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38496490T>ACA405666327RYR1c.6745T>A (p.Ser2249Thr)
c.6742T>A (p.Ser2248Thr)
c.197T>A
n.6828T>A
19g.38496490T>CCA405666328RYR1c.6745T>C (p.Ser2249Pro)
c.6742T>C (p.Ser2248Pro)
c.197T>C
n.6828T>C
19g.38496490T>GCA405666329RYR1c.6745T>G (p.Ser2249Ala)
c.6742T>G (p.Ser2248Ala)
c.197T>G
n.6828T>G
19g.38496491C>ACA405666330RYR1c.6746C>A (p.Ser2249Tyr)
c.6743C>A (p.Ser2248Tyr)
c.198C>A
n.6829C>A
19g.38496491C>GCA405666331RYR1c.6746C>G (p.Ser2249Cys)
c.6743C>G (p.Ser2248Cys)
c.198C>G
n.6829C>G
19g.38496491C>TCA405666332RYR1c.6746C>T (p.Ser2249Phe)
c.6743C>T (p.Ser2248Phe)
c.198C>T
n.6829C>T
19g.38496492C>ACA507353685RYR1c.6747C>A (p.Ser2249=)
c.6744C>A (p.Ser2248=)
c.199C>A
n.6830C>A
19g.38496492C=CA2335051265RYR1c.6747C= (p.Ser2249=)
c.6744C= (p.Ser2248=)
c.199C=
n.6830C=
19g.38496492C>GCA507353686RYR1c.6747C>G (p.Ser2249=)
c.6744C>G (p.Ser2248=)
c.199C>G
n.6830C>G
19g.38496492C>TCA068636RYR1c.6747C>T (p.Ser2249=)
c.6744C>T (p.Ser2248=)
c.199C>T
n.6830C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38496493A=CA2335051266RYR1c.6748A= (p.Met2250=)
c.6745A= (p.Met2249=)
c.200A=
n.6831A=
19g.38496493A>CCA405666333RYR1c.6748A>C (p.Met2250Leu)
c.6745A>C (p.Met2249Leu)
c.200A>C
n.6831A>C
19g.38496493A>GCA405666334RYR1c.6748A>G (p.Met2250Val)
c.6745A>G (p.Met2249Val)
c.200A>G
n.6831A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38496493A>TCA405666335RYR1c.6748A>T (p.Met2250Leu)
c.6745A>T (p.Met2249Leu)
c.200A>T
n.6831A>T
 dbSNP gnomAD v2 gnomAD v4
19g.38496494T>ACA405666338RYR1c.6749T>A (p.Met2250Lys)
c.6746T>A (p.Met2249Lys)
c.201T>A
n.6832T>A
19g.38496494T>CCA405666336RYR1c.6749T>C (p.Met2250Thr)
c.6746T>C (p.Met2249Thr)
c.201T>C
n.6832T>C
 dbSNP gnomAD v2 gnomAD v4
19g.38496494T>GCA405666337RYR1c.6749T>G (p.Met2250Arg)
c.6746T>G (p.Met2249Arg)
c.201T>G
n.6832T>G
19g.38496494T=CA2335051267RYR1c.6749T= (p.Met2250=)
c.6746T= (p.Met2249=)
c.201T=
n.6832T=
19g.38496495G>ACA405666339RYR1c.6750G>A (p.Met2250Ile)
c.6747G>A (p.Met2249Ile)
c.202G>A
n.6833G>A
 dbSNP gnomAD v3 gnomAD v4
19g.38496495G>CCA405666340RYR1c.6750G>C (p.Met2250Ile)
c.6747G>C (p.Met2249Ile)
c.202G>C
n.6833G>C
19g.38496495G=CA2335051268RYR1c.6750G= (p.Met2250=)
c.6747G= (p.Met2249=)
c.202G=
n.6833G=
19g.38496495G>TCA405666341RYR1c.6750G>T (p.Met2250Ile)
c.6747G>T (p.Met2249Ile)
c.202G>T
n.6833G>T
19g.38496496T>ACA405666342RYR1c.6751T>A (p.Phe2251Ile)
c.6748T>A (p.Phe2250Ile)
c.203T>A
n.6834T>A
19g.38496496T>CCA405666343RYR1c.6751T>C (p.Phe2251Leu)
c.6748T>C (p.Phe2250Leu)
c.203T>C
n.6834T>C
19g.38496496T>GCA405666344RYR1c.6751T>G (p.Phe2251Val)
c.6748T>G (p.Phe2250Val)
c.203T>G
n.6834T>G
19g.38496497T>ACA405666345RYR1c.6752T>A (p.Phe2251Tyr)
c.6749T>A (p.Phe2250Tyr)
c.204T>A
n.6835T>A
19g.38496497T>CCA405666346RYR1c.6752T>C (p.Phe2251Ser)
c.6749T>C (p.Phe2250Ser)
c.204T>C
n.6835T>C
 ClinVar dbSNP
19g.38496497T>GCA405666347RYR1c.6752T>G (p.Phe2251Cys)
c.6749T>G (p.Phe2250Cys)
c.204T>G
n.6835T>G
19g.38496497T=CA2335051269RYR1c.6752T= (p.Phe2251=)
c.6749T= (p.Phe2250=)
c.204T=
n.6835T=
19g.38496498T>ACA405666348RYR1c.6753T>A (p.Phe2251Leu)
c.6750T>A (p.Phe2250Leu)
c.205T>A
n.6836T>A
19g.38496498T>CCA068640RYR1c.6753T>C (p.Phe2251=)
c.6750T>C (p.Phe2250=)
c.205T>C
n.6836T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38496498T>GCA405666349RYR1c.6753T>G (p.Phe2251Leu)
c.6750T>G (p.Phe2250Leu)
c.205T>G
n.6836T>G
19g.38496498T=CA2335051270RYR1c.6753T= (p.Phe2251=)
c.6750T= (p.Phe2250=)
c.205T=
n.6836T=
19g.38496499G>ACA405666352RYR1c.6754G>A (p.Asp2252Asn)
c.6751G>A (p.Asp2251Asn)
c.206G>A
n.6837G>A
19g.38496499G>CCA405666351RYR1c.6754G>C (p.Asp2252His)
c.6751G>C (p.Asp2251His)
c.206G>C
n.6837G>C
19g.38496499G>TCA405666350RYR1c.6754G>T (p.Asp2252Tyr)
c.6751G>T (p.Asp2251Tyr)
c.206G>T
n.6837G>T
 gnomAD v4
19g.38496500A>CCA405666355RYR1c.6755A>C (p.Asp2252Ala)
c.6752A>C (p.Asp2251Ala)
c.207A>C
n.6838A>C
19g.38496500A>GCA405666353RYR1c.6755A>G (p.Asp2252Gly)
c.6752A>G (p.Asp2251Gly)
c.207A>G
n.6838A>G
19g.38496500A>TCA405666354RYR1c.6755A>T (p.Asp2252Val)
c.6752A>T (p.Asp2251Val)
c.207A>T
n.6838A>T
19g.38496501C>ACA068644RYR1c.6756C>A (p.Asp2252Glu)
c.6753C>A (p.Asp2251Glu)
c.208C>A
n.6839C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38496501C=CA2335051271RYR1c.6756C= (p.Asp2252=)
c.6753C= (p.Asp2251=)
c.208C=
n.6839C=
19g.38496501C>GCA405666356RYR1c.6756C>G (p.Asp2252Glu)
c.6753C>G (p.Asp2251Glu)
c.208C>G
n.6839C>G
19g.38496501C>TCA507353691RYR1c.6756C>T (p.Asp2252=)
c.6753C>T (p.Asp2251=)
c.208C>T
n.6839C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38496502C>ACA405666357RYR1c.6757C>A (p.His2253Asn)
c.6754C>A (p.His2252Asn)
c.209C>A
n.6840C>A
19g.38496502C=CA2335051272RYR1c.6757C= (p.His2253=)
c.6754C= (p.His2252=)
c.209C=
n.6840C=
19g.38496502C>GCA405666358RYR1c.6757C>G (p.His2253Asp)
c.6754C>G (p.His2252Asp)
c.209C>G
n.6840C>G
19g.38496502C>TCA308104435RYR1c.6757C>T (p.His2253Tyr)
c.6754C>T (p.His2252Tyr)
c.209C>T
n.6840C>T
 ClinVar dbSNP
19g.38496503A>CCA405666361RYR1c.6758A>C (p.His2253Pro)
c.6755A>C (p.His2252Pro)
c.210A>C
n.6841A>C
19g.38496503A>GCA405666359RYR1c.6758A>G (p.His2253Arg)
c.6755A>G (p.His2252Arg)
c.210A>G
n.6841A>G
19g.38496503A>TCA405666360RYR1c.6758A>T (p.His2253Leu)
c.6755A>T (p.His2252Leu)
c.210A>T
n.6841A>T
19g.38496504C>ACA082186RYR1c.6759C>A (p.His2253Gln)
c.6756C>A (p.His2252Gln)
c.211C>A
n.6842C>A
19g.38496504C=CA2335051273RYR1c.6759C= (p.His2253=)
c.6756C= (p.His2252=)
c.211C=
n.6842C=
19g.38496504C>GCA405666362RYR1c.6759C>G (p.His2253Gln)
c.6756C>G (p.His2252Gln)
c.211C>G
n.6842C>G
19g.38496504C>TCA068648RYR1c.6759C>T (p.His2253=)
c.6756C>T (p.His2252=)
c.211C>T
n.6842C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38496505C>ACA405666363RYR1c.6760C>A (p.Leu2254Met)
c.6757C>A (p.Leu2253Met)
c.212C>A
n.6843C>A
19g.38496505C=CA2335051274RYR1c.6760C= (p.Leu2254=)
c.6757C= (p.Leu2253=)
c.212C=
n.6843C=
19g.38496505C>GCA405666364RYR1c.6760C>G (p.Leu2254Val)
c.6757C>G (p.Leu2253Val)
c.212C>G
n.6843C>G
 gnomAD v4
19g.38496505C>TCA507353693RYR1c.6760C>T (p.Leu2254=)
c.6757C>T (p.Leu2253=)
c.212C>T
n.6843C>T
 dbSNP gnomAD v3 gnomAD v4
19g.38496506T>ACA405666365RYR1c.6761T>A (p.Leu2254Gln)
c.6758T>A (p.Leu2253Gln)
c.213T>A
n.6844T>A
19g.38496506T>CCA308104454RYR1c.6761T>C (p.Leu2254Pro)
c.6758T>C (p.Leu2253Pro)
c.213T>C
n.6844T>C
 ClinVar dbSNP gnomAD v4
19g.38496506T>GCA405666366RYR1c.6761T>G (p.Leu2254Arg)
c.6758T>G (p.Leu2253Arg)
c.213T>G
n.6844T>G
 gnomAD v4
19g.38496506T=CA2335051275RYR1c.6761T= (p.Leu2254=)
c.6758T= (p.Leu2253=)
c.213T=
n.6844T=
19g.38496507G>ACA308104481RYR1c.6762G>A (p.Leu2254=)
c.6759G>A (p.Leu2253=)
c.214G>A
n.6845G>A
 ClinVar dbSNP gnomAD v4
19g.38496507G>CCA507353695RYR1c.6762G>C (p.Leu2254=)
c.6759G>C (p.Leu2253=)
c.214G>C
n.6845G>C
19g.38496507G=CA2335051276RYR1c.6762G= (p.Leu2254=)
c.6759G= (p.Leu2253=)
c.214G=
n.6845G=
19g.38496507G>TCA507353696RYR1c.6762G>T (p.Leu2254=)
c.6759G>T (p.Leu2253=)
c.214G>T
n.6845G>T
19g.38496508A>CCA405666367RYR1c.6763A>C (p.Ser2255Arg)
c.6760A>C (p.Ser2254Arg)
c.215A>C
n.6846A>C
19g.38496508A>GCA405666368RYR1c.6763A>G (p.Ser2255Gly)
c.6760A>G (p.Ser2254Gly)
c.215A>G
n.6846A>G
19g.38496508A>TCA405666369RYR1c.6763A>T (p.Ser2255Cys)
c.6760A>T (p.Ser2254Cys)
c.215A>T
n.6846A>T
19g.38496509G>ACA405666370RYR1c.6764G>A (p.Ser2255Asn)
c.6761G>A (p.Ser2254Asn)
c.216G>A
n.6847G>A
 gnomAD v4
19g.38496509G>CCA405666371RYR1c.6764G>C (p.Ser2255Thr)
c.6761G>C (p.Ser2254Thr)
c.216G>C
n.6847G>C
19g.38496509G>TCA405666372RYR1c.6764G>T (p.Ser2255Ile)
c.6761G>T (p.Ser2254Ile)
c.216G>T
n.6847G>T
19g.38496510C>ACA405666373RYR1c.6765C>A (p.Ser2255Arg)
c.6762C>A (p.Ser2254Arg)
c.217C>A
n.6848C>A
19g.38496510C>GCA405666374RYR1c.6765C>G (p.Ser2255Arg)
c.6762C>G (p.Ser2254Arg)
c.217C>G
n.6848C>G
19g.38496510C>TCA507353702RYR1c.6765C>T (p.Ser2255=)
c.6762C>T (p.Ser2254=)
c.217C>T
n.6848C>T
 ClinVar
19g.38496511T>ACA405666375RYR1c.6766T>A (p.Tyr2256Asn)
c.6763T>A (p.Tyr2255Asn)
c.218T>A
n.6849T>A
19g.38496511T>CCA405666376RYR1c.6766T>C (p.Tyr2256His)
c.6763T>C (p.Tyr2255His)
c.218T>C
n.6849T>C
 dbSNP
19g.38496511T>GCA405666377RYR1c.6766T>G (p.Tyr2256Asp)
c.6763T>G (p.Tyr2255Asp)
c.218T>G
n.6849T>G
19g.38496511T=CA2335051277RYR1c.6766T= (p.Tyr2256=)
c.6763T= (p.Tyr2255=)
c.218T=
n.6849T=
19g.38496512A>CCA405666379RYR1c.6767A>C (p.Tyr2256Ser)
c.6764A>C (p.Tyr2255Ser)
c.219A>C
n.6850A>C
19g.38496512A>GCA405666380RYR1c.6767A>G (p.Tyr2256Cys)
c.6764A>G (p.Tyr2255Cys)
c.219A>G
n.6850A>G
19g.38496512A>TCA405666378RYR1c.6767A>T (p.Tyr2256Phe)
c.6764A>T (p.Tyr2255Phe)
c.219A>T
n.6850A>T
19g.38496513C>ACA405666381RYR1c.6768C>A (p.Tyr2256Ter)
c.6765C>A (p.Tyr2255Ter)
c.220C>A
n.6851C>A
 gnomAD v4
19g.38496513C>GCA405666382RYR1c.6768C>G (p.Tyr2256Ter)
c.6765C>G (p.Tyr2255Ter)
c.220C>G
n.6851C>G
19g.38496513C>TCA507353707RYR1c.6768C>T (p.Tyr2256=)
c.6765C>T (p.Tyr2255=)
c.220C>T
n.6851C>T
19g.38496514C>ACA405666383RYR1c.6769C>A (p.Leu2257Met)
c.6766C>A (p.Leu2256Met)
c.221C>A
n.6852C>A
19g.38496514C>GCA405666384RYR1c.6769C>G (p.Leu2257Val)
c.6766C>G (p.Leu2256Val)
c.221C>G
n.6852C>G
19g.38496514C>TCA507353708RYR1c.6769C>T (p.Leu2257=)
c.6766C>T (p.Leu2256=)
c.221C>T
n.6852C>T
19g.38496515T>ACA405666385RYR1c.6770T>A (p.Leu2257Gln)
c.6767T>A (p.Leu2256Gln)
c.222T>A
n.6853T>A
19g.38496515T>CCA405666386RYR1c.6770T>C (p.Leu2257Pro)
c.6767T>C (p.Leu2256Pro)
c.222T>C
n.6853T>C
 gnomAD v4
19g.38496515T>GCA405666387RYR1c.6770T>G (p.Leu2257Arg)
c.6767T>G (p.Leu2256Arg)
c.222T>G
n.6853T>G
19g.38496516G>ACA507353712RYR1c.6771G>A (p.Leu2257=)
c.6768G>A (p.Leu2256=)
c.223G>A
n.6854G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38496516G>CCA507353713RYR1c.6771G>C (p.Leu2257=)
c.6768G>C (p.Leu2256=)
c.223G>C
n.6854G>C
 ClinVar
19g.38496516G=CA2335051278RYR1c.6771G= (p.Leu2257=)
c.6768G= (p.Leu2256=)
c.223G=
n.6854G=
19g.38496516G>TCA507353714RYR1c.6771G>T (p.Leu2257=)
c.6768G>T (p.Leu2256=)
c.223G>T
n.6854G>T
19g.38496517C>ACA405666388RYR1c.6772C>A (p.Leu2258Met)
c.6769C>A (p.Leu2257Met)
c.224C>A
n.6855C>A
19g.38496517C=CA2335051279RYR1c.6772C= (p.Leu2258=)
c.6769C= (p.Leu2257=)
c.224C=
n.6855C=
19g.38496517C>GCA405666389RYR1c.6772C>G (p.Leu2258Val)
c.6769C>G (p.Leu2257Val)
c.224C>G
n.6855C>G
19g.38496517C>TCA507353717RYR1c.6772C>T (p.Leu2258=)
c.6769C>T (p.Leu2257=)
c.224C>T
n.6855C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38496518T>ACA405666390RYR1c.6773T>A (p.Leu2258Gln)
c.6770T>A (p.Leu2257Gln)
c.225T>A
n.6856T>A
19g.38496518T>CCA068654RYR1c.6773T>C (p.Leu2258Pro)
c.6770T>C (p.Leu2257Pro)
c.225T>C
n.6856T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38496518T>GCA405666391RYR1c.6773T>G (p.Leu2258Arg)
c.6770T>G (p.Leu2257Arg)
c.225T>G
n.6856T>G
19g.38496518T=CA2335051280RYR1c.6773T= (p.Leu2258=)
c.6770T= (p.Leu2257=)
c.225T=
n.6856T=
19g.38496519G>ACA068659RYR1c.6774G>A (p.Leu2258=)
c.6771G>A (p.Leu2257=)
c.226G>A
n.6857G>A
 ClinVar dbSNP ExAC gnomAD v2 COSMIC
19g.38496519G>CCA507353719RYR1c.6774G>C (p.Leu2258=)
c.6771G>C (p.Leu2257=)
c.226G>C
n.6857G>C
19g.38496519G=CA2335051281RYR1c.6774G= (p.Leu2258=)
c.6771G= (p.Leu2257=)
c.226G=
n.6857G=
19g.38496519G>TCA507353720RYR1c.6774G>T (p.Leu2258=)
c.6771G>T (p.Leu2257=)
c.226G>T
n.6857G>T
19g.38496520G>ACA068661RYR1c.6775G>A (p.Glu2259Lys)
c.6772G>A (p.Glu2258Lys)
c.227G>A
n.6858G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38496520G>CCA405666392RYR1c.6775G>C (p.Glu2259Gln)
c.6772G>C (p.Glu2258Gln)
c.227G>C
n.6858G>C
19g.38496520G=CA2335051282RYR1c.6775G= (p.Glu2259=)
c.6772G= (p.Glu2258=)
c.227G=
n.6858G=
19g.38496520G>TCA405666393RYR1c.6775G>T (p.Glu2259Ter)
c.6772G>T (p.Glu2258Ter)
c.227G>T
n.6858G>T
19g.38496521A>CCA405666394RYR1c.6776A>C (p.Glu2259Ala)
c.6773A>C (p.Glu2258Ala)
c.228A>C
n.6859A>C
 gnomAD v4
19g.38496521A>GCA405666396RYR1c.6776A>G (p.Glu2259Gly)
c.6773A>G (p.Glu2258Gly)
c.228A>G
n.6859A>G
19g.38496521A>TCA405666395RYR1c.6776A>T (p.Glu2259Val)
c.6773A>T (p.Glu2258Val)
c.228A>T
n.6859A>T
19g.38496522G>ACA082189RYR1c.6777G>A (p.Glu2259=)
c.6774G>A (p.Glu2258=)
c.229G>A
n.6860G>A
 gnomAD v4
19g.38496522G>CCA405666397RYR1c.6777G>C (p.Glu2259Asp)
c.6774G>C (p.Glu2258Asp)
c.229G>C
n.6860G>C
 dbSNP gnomAD v3 gnomAD v4
19g.38496522G=CA2335051283RYR1c.6777G= (p.Glu2259=)
c.6774G= (p.Glu2258=)
c.229G=
n.6860G=
19g.38496522G>TCA405666398RYR1c.6777G>T (p.Glu2259Asp)
c.6774G>T (p.Glu2258Asp)
c.229G>T
n.6860G>T
19g.38496523A>CCA405666399RYR1c.6778A>C (p.Asn2260His)
c.6775A>C (p.Asn2259His)
c.230A>C
n.6861A>C
19g.38496523A>GCA405666400RYR1c.6778A>G (p.Asn2260Asp)
c.6775A>G (p.Asn2259Asp)
c.230A>G
n.6861A>G
19g.38496523A>TCA405666401RYR1c.6778A>T (p.Asn2260Tyr)
c.6775A>T (p.Asn2259Tyr)
c.230A>T
n.6861A>T
19g.38496524A>CCA405666402RYR1c.6779A>C (p.Asn2260Thr)
c.6776A>C (p.Asn2259Thr)
c.231A>C
n.6862A>C
19g.38496524A>GCA405666403RYR1c.6779A>G (p.Asn2260Ser)
c.6776A>G (p.Asn2259Ser)
c.231A>G
n.6862A>G
19g.38496524A>TCA405666404RYR1c.6779A>T (p.Asn2260Ile)
c.6776A>T (p.Asn2259Ile)
c.231A>T
n.6862A>T
19g.38496525C>ACA405666405RYR1c.6780C>A (p.Asn2260Lys)
c.6777C>A (p.Asn2259Lys)
c.232C>A
n.6863C>A
19g.38496525C=CA2335051284RYR1c.6780C= (p.Asn2260=)
c.6777C= (p.Asn2259=)
c.232C=
n.6863C=
19g.38496525C>GCA405666406RYR1c.6780C>G (p.Asn2260Lys)
c.6777C>G (p.Asn2259Lys)
c.232C>G
n.6863C>G
19g.38496525C>TCA068669RYR1c.6780C>T (p.Asn2260=)
c.6777C>T (p.Asn2259=)
c.232C>T
n.6863C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38496526A=CA2335051285RYR1c.6781A= (p.Ser2261=)
c.6778A= (p.Ser2260=)
c.233A=
n.6864A=
19g.38496526A>CCA405666409RYR1c.6781A>C (p.Ser2261Arg)
c.6778A>C (p.Ser2260Arg)
c.233A>C
n.6864A>C
19g.38496526A>GCA405666408RYR1c.6781A>G (p.Ser2261Gly)
c.6778A>G (p.Ser2260Gly)
c.233A>G
n.6864A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38496526A>TCA405666407RYR1c.6781A>T (p.Ser2261Cys)
c.6778A>T (p.Ser2260Cys)
c.233A>T
n.6864A>T
19g.38496527G>ACA405666410RYR1c.6782G>A (p.Ser2261Asn)
c.6779G>A (p.Ser2260Asn)
c.234G>A
n.6865G>A
19g.38496527G>CCA405666411RYR1c.6782G>C (p.Ser2261Thr)
c.6779G>C (p.Ser2260Thr)
c.234G>C
n.6865G>C
19g.38496527G>TCA405666412RYR1c.6782G>T (p.Ser2261Ile)
c.6779G>T (p.Ser2260Ile)
c.234G>T
n.6865G>T
19g.38496528T>ACA405666413RYR1c.6783T>A (p.Ser2261Arg)
c.6780T>A (p.Ser2260Arg)
c.235T>A
n.6866T>A
19g.38496528T>CCA507353730RYR1c.6783T>C (p.Ser2261=)
c.6780T>C (p.Ser2260=)
c.235T>C
n.6866T>C
19g.38496528T>GCA405666414RYR1c.6783T>G (p.Ser2261Arg)
c.6780T>G (p.Ser2260Arg)
c.235T>G
n.6866T>G
19g.38496529G>ACA405666417RYR1c.6784G>A (p.Gly2262Ser)
c.6781G>A (p.Gly2261Ser)
c.236G>A
n.6867G>A
19g.38496529G>CCA405666416RYR1c.6784G>C (p.Gly2262Arg)
c.6781G>C (p.Gly2261Arg)
c.236G>C
n.6867G>C
19g.38496529G>TCA405666415RYR1c.6784G>T (p.Gly2262Cys)
c.6781G>T (p.Gly2261Cys)
c.236G>T
n.6867G>T
19g.38496530G>ACA405666418RYR1c.6785G>A (p.Gly2262Asp)
c.6782G>A (p.Gly2261Asp)
c.237G>A
n.6868G>A
 gnomAD v4
19g.38496530G>CCA405666419RYR1c.6785G>C (p.Gly2262Ala)
c.6782G>C (p.Gly2261Ala)
c.237G>C
n.6868G>C
19g.38496530G>TCA405666420RYR1c.6785G>T (p.Gly2262Val)
c.6782G>T (p.Gly2261Val)
c.237G>T
n.6868G>T
19g.38496531C>ACA507353738RYR1c.6786C>A (p.Gly2262=)
c.6783C>A (p.Gly2261=)
c.238C>A
n.6869C>A
 gnomAD v4
19g.38496531C>GCA507353739RYR1c.6786C>G (p.Gly2262=)
c.6783C>G (p.Gly2261=)
c.238C>G
n.6869C>G
19g.38496531C>TCA507353740RYR1c.6786C>T (p.Gly2262=)
c.6783C>T (p.Gly2261=)
c.238C>T
n.6869C>T
19g.38496532A>CCA405666421RYR1c.6787A>C (p.Ile2263Leu)
c.6784A>C (p.Ile2262Leu)
c.239A>C
n.6870A>C
19g.38496532A>GCA405666422RYR1c.6787A>G (p.Ile2263Val)
c.6784A>G (p.Ile2262Val)
c.239A>G
n.6870A>G
19g.38496532A>TCA405666423RYR1c.6787A>T (p.Ile2263Phe)
c.6784A>T (p.Ile2262Phe)
c.239A>T
n.6870A>T
19g.38496533T>ACA405666424RYR1c.6788T>A (p.Ile2263Asn)
c.6785T>A (p.Ile2262Asn)
c.240T>A
n.6871T>A
19g.38496533T>CCA405666426RYR1c.6788T>C (p.Ile2263Thr)
c.6785T>C (p.Ile2262Thr)
c.240T>C
n.6871T>C
 gnomAD v4
19g.38496533T>GCA405666425RYR1c.6788T>G (p.Ile2263Ser)
c.6785T>G (p.Ile2262Ser)
c.240T>G
n.6871T>G
19g.38496534C>ACA507353746RYR1c.6789C>A (p.Ile2263=)
c.6786C>A (p.Ile2262=)
c.241C>A
n.6872C>A
 ClinVar dbSNP
19g.38496534C=CA2335051286RYR1c.6789C= (p.Ile2263=)
c.6786C= (p.Ile2262=)
c.241C=
n.6872C=
19g.38496534C>GCA405666427RYR1c.6789C>G (p.Ile2263Met)
c.6786C>G (p.Ile2262Met)
c.241C>G
n.6872C>G
19g.38496534C>TCA068673RYR1c.6789C>T (p.Ile2263=)
c.6786C>T (p.Ile2262=)
c.241C>T
n.6872C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38496535G>ACA405666428RYR1c.6790G>A (p.Gly2264Ser)
c.6787G>A (p.Gly2263Ser)
c.242G>A
n.6873G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
19g.38496535G>CCA405666429RYR1c.6790G>C (p.Gly2264Arg)
c.6787G>C (p.Gly2263Arg)
c.242G>C
n.6873G>C
19g.38496535G=CA2335051287RYR1c.6790G= (p.Gly2264=)
c.6787G= (p.Gly2263=)
c.242G=
n.6873G=
19g.38496535G>TCA405666430RYR1c.6790G>T (p.Gly2264Cys)
c.6787G>T (p.Gly2263Cys)
c.242G>T
n.6873G>T
19g.38496536G>ACA405666431RYR1c.6791G>A (p.Gly2264Asp)
c.6788G>A (p.Gly2263Asp)
c.243G>A
n.6874G>A
 COSMIC
19g.38496536G>CCA405666432RYR1c.6791G>C (p.Gly2264Ala)
c.6788G>C (p.Gly2263Ala)
c.243G>C
n.6874G>C
19g.38496536G>TCA405666433RYR1c.6791G>T (p.Gly2264Val)
c.6788G>T (p.Gly2263Val)
c.243G>T
n.6874G>T
19g.38496537C>ACA507353749RYR1c.6792C>A (p.Gly2264=)
c.6789C>A (p.Gly2263=)
c.244C>A
n.6875C>A
19g.38496537C=CA2335051288RYR1c.6792C= (p.Gly2264=)
c.6789C= (p.Gly2263=)
c.244C=
n.6875C=
19g.38496537C>GCA507353750RYR1c.6792C>G (p.Gly2264=)
c.6789C>G (p.Gly2263=)
c.244C>G
n.6875C>G
19g.38496537C>TCA068676RYR1c.6792C>T (p.Gly2264=)
c.6789C>T (p.Gly2263=)
c.244C>T
n.6875C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38496538C>ACA405666434RYR1c.6793C>A (p.Leu2265Met)
c.6790C>A (p.Leu2264Met)
c.245C>A
n.6876C>A
19g.38496538C>GCA405666435RYR1c.6793C>G (p.Leu2265Val)
c.6790C>G (p.Leu2264Val)
c.245C>G
n.6876C>G
19g.38496538C>TCA507353751RYR1c.6793C>T (p.Leu2265=)
c.6790C>T (p.Leu2264=)
c.245C>T
n.6876C>T
19g.38496539T>ACA405666436RYR1c.6794T>A (p.Leu2265Gln)
c.6791T>A (p.Leu2264Gln)
c.246T>A
n.6877T>A
19g.38496539T>CCA405666438RYR1c.6794T>C (p.Leu2265Pro)
c.6791T>C (p.Leu2264Pro)
c.246T>C
n.6877T>C
19g.38496539T>GCA405666437RYR1c.6794T>G (p.Leu2265Arg)
c.6791T>G (p.Leu2264Arg)
c.246T>G
n.6877T>G
19g.38496540G>ACA507353756RYR1c.6795G>A (p.Leu2265=)
c.6792G>A (p.Leu2264=)
c.247G>A
n.6878G>A
19g.38496540G>CCA507353757RYR1c.6795G>C (p.Leu2265=)
c.6792G>C (p.Leu2264=)
c.247G>C
n.6878G>C
 dbSNP gnomAD v3 gnomAD v4
19g.38496540G=CA2335051289RYR1c.6795G= (p.Leu2265=)
c.6792G= (p.Leu2264=)
c.247G=
n.6878G=
19g.38496540G>TCA507353758RYR1c.6795G>T (p.Leu2265=)
c.6792G>T (p.Leu2264=)
c.247G>T
n.6878G>T
19g.38496542delCA2584899323RYR1c.6796+1del
c.6793+1del
c.248+1del
n.6879+1del
 gnomAD v4
19g.38496541G>ACA405666439RYR1c.6796G>A (p.Gly2266Ser)
c.6793G>A (p.Gly2265Ser)
c.248G>A
n.6879G>A
 gnomAD v4
19g.38496541G>CCA068720RYR1c.6796G>C (p.Gly2266Arg)
c.6793G>C (p.Gly2265Arg)
c.248G>C
n.6879G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38496541G=CA2335051290RYR1c.6796G= (p.Gly2266=)
c.6793G= (p.Gly2265=)
c.248G=
n.6879G=
19g.38496541G>TCA068724RYR1c.6796G>T (p.Gly2266Cys)
c.6793G>T (p.Gly2265Cys)
c.248G>T
n.6879G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38496542G>ACA405666440RYR1c.6796+1G>A (n.6796+1G>A)
c.6793+1G>A (n.6793+1G>A)
c.248+1G>A
n.6879+1G>A
 ClinVar dbSNP
19g.38496542G>CCA405666441RYR1c.6796+1G>C (n.6796+1G>C)
c.6793+1G>C (n.6793+1G>C)
c.248+1G>C
n.6879+1G>C
19g.38496542G>TCA405666442RYR1c.6796+1G>T (n.6796+1G>T)
c.6793+1G>T (n.6793+1G>T)
c.248+1G>T
n.6879+1G>T
19g.38496543T>ACA405666443RYR1c.6796+2T>A (n.6796+2T>A)
c.6793+2T>A (n.6793+2T>A)
c.248+2T>A
n.6879+2T>A
 gnomAD v4
19g.38496543T>CCA405666444RYR1c.6796+2T>C (n.6796+2T>C)
c.6793+2T>C (n.6793+2T>C)
c.248+2T>C
n.6879+2T>C
19g.38496543T>GCA405666445RYR1c.6796+2T>G (n.6796+2T>G)
c.6793+2T>G (n.6793+2T>G)
c.248+2T>G
n.6879+2T>G
 dbSNP
19g.38496543T=CA2335051291RYR1c.6796+2T= (n.6796+2T=)
c.6793+2T= (n.6793+2T=)
c.248+2T=
n.6879+2T=
19g.38496545A=CA2335051292RYR1c.6796+4A= (n.6796+4A=)
c.6793+4A= (n.6793+4A=)
c.248+4A=
n.6879+4A=
19g.38496545A>GCA068708RYR1c.6796+4A>G (n.6796+4A>G)
c.6793+4A>G (n.6793+4A>G)
c.248+4A>G
n.6879+4A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38496547A>CCA2584899334RYR1c.6796+6A>C (n.6796+6A>C)
c.6793+6A>C (n.6793+6A>C)
c.248+6A>C
n.6879+6A>C
 gnomAD v4
19g.38496548A=CA2335051293RYR1c.6796+7A= (n.6796+7A=)
c.6793+7A= (n.6793+7A=)
c.248+7A=
n.6879+7A=
19g.38496548A>CCA633066116RYR1c.6796+7A>C (n.6796+7A>C)
c.6793+7A>C (n.6793+7A>C)
c.248+7A>C
n.6879+7A>C
 dbSNP gnomAD v2
19g.38496548A>GCA2576770970RYR1c.6796+7A>G (n.6796+7A>G)
c.6793+7A>G (n.6793+7A>G)
c.248+7A>G
n.6879+7A>G
 dbSNP
19g.38496549C>ACA2584899336RYR1c.6796+8C>A (n.6796+8C>A)
c.6793+8C>A (n.6793+8C>A)
c.248+8C>A
n.6879+8C>A
 gnomAD v4
19g.38496549C=CA2335051294RYR1c.6796+8C= (n.6796+8C=)
c.6793+8C= (n.6793+8C=)
c.248+8C=
n.6879+8C=
19g.38496549C>GCA2584899339RYR1c.6796+8C>G (n.6796+8C>G)
c.6793+8C>G (n.6793+8C>G)
c.248+8C>G
n.6879+8C>G
 ClinVar gnomAD v4
19g.38496549C>TCA068713RYR1c.6796+8C>T (n.6796+8C>T)
c.6793+8C>T (n.6793+8C>T)
c.248+8C>T
n.6879+8C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38496553delCA2584899337RYR1c.6796+12del (n.6796+12del)
c.6793+12del (n.6793+12del)
c.248+12del
n.6879+12del
 gnomAD v4
19g.38496550C=CA2335051295RYR1c.6796+9C= (n.6796+9C=)
c.6793+9C= (n.6793+9C=)
c.248+9C=
n.6879+9C=
19g.38496550C>TCA068715RYR1c.6796+9C>T (n.6796+9C>T)
c.6793+9C>T (n.6793+9C>T)
c.248+9C>T
n.6879+9C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38496551C>ACA2584899348RYR1c.6796+10C>A (n.6796+10C>A)
c.6793+10C>A (n.6793+10C>A)
c.248+10C>A
n.6879+10C>A
 gnomAD v4
19g.38496552C=CA2335051296RYR1c.6796+11C= (n.6796+11C=)
c.6793+11C= (n.6793+11C=)
c.248+11C=
n.6879+11C=
19g.38496552C>TCA068678RYR1c.6796+11C>T (n.6796+11C>T)
c.6793+11C>T (n.6793+11C>T)
c.248+11C>T
n.6879+11C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38496553C=CA2335051297RYR1c.6796+12C= (n.6796+12C=)
c.6793+12C= (n.6793+12C=)
c.248+12C=
n.6879+12C=
19g.38496553C>GCA2584899351RYR1c.6796+12C>G (n.6796+12C>G)
c.6793+12C>G (n.6793+12C>G)
c.248+12C>G
n.6879+12C>G
 gnomAD v4
19g.38496553C>TCA068680RYR1c.6796+12C>T (n.6796+12C>T)
c.6793+12C>T (n.6793+12C>T)
c.248+12C>T
n.6879+12C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38496554G>ACA068684RYR1c.6796+13G>A (n.6796+13G>A)
c.6793+13G>A (n.6793+13G>A)
c.248+13G>A
n.6879+13G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38496554G>CCA2814345955RYR1c.6796+13G>C (n.6796+13G>C)
c.6793+13G>C (n.6793+13G>C)
c.248+13G>C
n.6879+13G>C
19g.38496554G=CA2335051298RYR1c.6796+13G= (n.6796+13G=)
c.6793+13G= (n.6793+13G=)
c.248+13G=
n.6879+13G=
19g.38496555A>GCA2584899359RYR1c.6796+14A>G (n.6796+14A>G)
c.6793+14A>G (n.6793+14A>G)
c.248+14A>G
n.6879+14A>G
 gnomAD v4
19g.38496555A>TCA2576770971RYR1c.6796+14A>T (n.6796+14A>T)
c.6793+14A>T (n.6793+14A>T)
c.248+14A>T
n.6879+14A>T
 gnomAD v4
19g.38496556G>ACA633066117RYR1c.6796+15G>A (n.6796+15G>A)
c.6793+15G>A (n.6793+15G>A)
c.248+15G>A
n.6879+15G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38496556G=CA2335051299RYR1c.6796+15G= (n.6796+15G=)
c.6793+15G= (n.6793+15G=)
c.248+15G=
n.6879+15G=
19g.38496556G>TCA068686RYR1c.6796+15G>T (n.6796+15G>T)
c.6793+15G>T (n.6793+15G>T)
c.248+15G>T
n.6879+15G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38496557C>ACA2697556562RYR1c.6796+16C>A (n.6796+16C>A)
c.6793+16C>A (n.6793+16C>A)
c.248+16C>A
n.6879+16C>A
 ClinVar
19g.38496557C>TCA2576770972RYR1c.6796+16C>T (n.6796+16C>T)
c.6793+16C>T (n.6793+16C>T)
c.248+16C>T
n.6879+16C>T
 gnomAD v4
19g.38496558C>ACA2739276705RYR1c.6796+17C>A (n.6796+17C>A)
c.6793+17C>A (n.6793+17C>A)
c.248+17C>A
n.6879+17C>A
 ClinVar
19g.38496558C>TCA2584899363RYR1c.6796+17C>T (n.6796+17C>T)
c.6793+17C>T (n.6793+17C>T)
c.248+17C>T
n.6879+17C>T
 gnomAD v4
19g.38496559C>ACA2576770973RYR1c.6796+18C>A (n.6796+18C>A)
c.6793+18C>A (n.6793+18C>A)
c.248+18C>A
n.6879+18C>A
19g.38496559C>TCA2580097194RYR1c.6796+18C>T (n.6796+18C>T)
c.6793+18C>T (n.6793+18C>T)
c.248+18C>T
n.6879+18C>T
 ClinVar gnomAD v4
19g.38496560A=CA2335051300RYR1c.6796+19A= (n.6796+19A=)
c.6793+19A= (n.6793+19A=)
c.248+19A=
n.6879+19A=
19g.38496561G>ACA2584899364RYR1c.6796+20G>A (n.6796+20G>A)
c.6793+20G>A (n.6793+20G>A)
c.248+20G>A
n.6879+20G>A
 gnomAD v4
19g.38496564dupCA920105660RYR1c.6796+23dup (n.6796+23dup)
c.6793+23dup (n.6793+23dup)
c.248+23dup
n.6879+23dup
 dbSNP gnomAD v4
19g.38496562G>ACA882059319RYR1c.6796+21G>A (n.6796+21G>A)
c.6793+21G>A (n.6793+21G>A)
c.248+21G>A
n.6879+21G>A
 dbSNP gnomAD v3 gnomAD v4
19g.38496562G=CA2335051301RYR1c.6796+21G= (n.6796+21G=)
c.6793+21G= (n.6793+21G=)
c.248+21G=
n.6879+21G=
19g.38496563G>ACA2335051303RYR1c.6796+22G>A (n.6796+22G>A)
c.6793+22G>A (n.6793+22G>A)
c.248+22G>A
n.6879+22G>A
 dbSNP gnomAD v4
19g.38496563G=CA2335051302RYR1c.6796+22G= (n.6796+22G=)
c.6793+22G= (n.6793+22G=)
c.248+22G=
n.6879+22G=
19g.38496563G>TCA2584899366RYR1c.6796+22G>T (n.6796+22G>T)
c.6793+22G>T (n.6793+22G>T)
c.248+22G>T
n.6879+22G>T
 gnomAD v4
19g.38496564G>ACA068690RYR1c.6796+23G>A (n.6796+23G>A)
c.6793+23G>A (n.6793+23G>A)
c.248+23G>A
n.6879+23G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38496564G=CA2335051304RYR1c.6796+23G= (n.6796+23G=)
c.6793+23G= (n.6793+23G=)
c.248+23G=
n.6879+23G=
19g.38496565C=CA2335051305RYR1c.6796+24C= (n.6796+24C=)
c.6793+24C= (n.6793+24C=)
c.248+24C=
n.6879+24C=
19g.38496565C>TCA068694RYR1c.6796+24C>T (n.6796+24C>T)
c.6793+24C>T (n.6793+24C>T)
c.248+24C>T
n.6879+24C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38496567_38496568delCA2582145346RYR1c.6796+26_6796+27del (n.6796+26_6796+27del)
c.6793+26_6793+27del (n.6793+26_6793+27del)
c.248+26_248+27del
n.6879+26_6879+27del
 dbSNP gnomAD v3 gnomAD v4
19g.38496568T>ACA2582145347RYR1c.6796+27T>A (n.6796+27T>A)
c.6793+27T>A (n.6793+27T>A)
c.248+27T>A
n.6879+27T>A
 dbSNP gnomAD v3 gnomAD v4
19g.38496568T>CCA068698RYR1c.6796+27T>C (n.6796+27T>C)
c.6793+27T>C (n.6793+27T>C)
c.248+27T>C
n.6879+27T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38496568T=CA2335051306RYR1c.6796+27T= (n.6796+27T=)
c.6793+27T= (n.6793+27T=)
c.248+27T=
n.6879+27T=
19g.38496568_38496569delinsTCCA2335051307RYR1c.6796+27_6796+28delinsTC (n.6796+27_6796+28delinsTC)
c.6793+27_6793+28delinsTC (n.6793+27_6793+28delinsTC)
c.248+27_248+28delinsTC
n.6879+27_6879+28delinsTC
19g.38496569C>ACA308104579RYR1c.6796+28C>A (n.6796+28C>A)
c.6793+28C>A (n.6793+28C>A)
c.248+28C>A
n.6879+28C>A
 dbSNP gnomAD v3 gnomAD v4
19g.38496569C=CA2335051308RYR1c.6796+28C= (n.6796+28C=)
c.6793+28C= (n.6793+28C=)
c.248+28C=
n.6879+28C=
19g.38496569C>TCA2584899369RYR1c.6796+28C>T (n.6796+28C>T)
c.6793+28C>T (n.6793+28C>T)
c.248+28C>T
n.6879+28C>T
 gnomAD v4
19g.38496573delCA632874198RYR1c.6796+32del (n.6796+32del)
c.6793+32del (n.6793+32del)
c.248+32del
n.6879+32del
 dbSNP gnomAD v2 gnomAD v4
19g.38496570C>ACA2584899370RYR1c.6796+29C>A (n.6796+29C>A)
c.6793+29C>A (n.6793+29C>A)
c.248+29C>A
n.6879+29C>A
 gnomAD v4
19g.38496570C>GCA2576770974RYR1c.6796+29C>G (n.6796+29C>G)
c.6793+29C>G (n.6793+29C>G)
c.248+29C>G
n.6879+29C>G
 gnomAD v4
19g.38496571C=CA2335051309RYR1c.6796+30C= (n.6796+30C=)
c.6793+30C= (n.6793+30C=)
c.248+30C=
n.6879+30C=
19g.38496571C>TCA632874200RYR1c.6796+30C>T (n.6796+30C>T)
c.6793+30C>T (n.6793+30C>T)
c.248+30C>T
n.6879+30C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38496572C=CA2335051310RYR1c.6796+31C= (n.6796+31C=)
c.6793+31C= (n.6793+31C=)
c.248+31C=
n.6879+31C=
19g.38496572C>GCA2335051311RYR1c.6796+31C>G (n.6796+31C>G)
c.6793+31C>G (n.6793+31C>G)
c.248+31C>G
n.6879+31C>G
 dbSNP
19g.38496572C>TCA632874201RYR1c.6796+31C>T (n.6796+31C>T)
c.6793+31C>T (n.6793+31C>T)
c.248+31C>T
n.6879+31C>T
 dbSNP gnomAD v2 gnomAD v4
19g.38496573C>ACA2576770975RYR1c.6796+32C>A (n.6796+32C>A)
c.6793+32C>A (n.6793+32C>A)
c.248+32C>A
n.6879+32C>A
19g.38496573C=CA2335051312RYR1c.6796+32C= (n.6796+32C=)
c.6793+32C= (n.6793+32C=)
c.248+32C=
n.6879+32C=
19g.38496573C>TCA068701RYR1c.6796+32C>T (n.6796+32C>T)
c.6793+32C>T (n.6793+32C>T)
c.248+32C>T
n.6879+32C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38496574A=CA2335051313RYR1c.6796+33A= (n.6796+33A=)
c.6793+33A= (n.6793+33A=)
c.248+33A=
n.6879+33A=
19g.38496574A>GCA2584899373RYR1c.6796+33A>G (n.6796+33A>G)
c.6793+33A>G (n.6793+33A>G)
c.248+33A>G
n.6879+33A>G
 gnomAD v4
19g.38496574A>TCA632874203RYR1c.6796+33A>T (n.6796+33A>T)
c.6793+33A>T (n.6793+33A>T)
c.248+33A>T
n.6879+33A>T
 dbSNP gnomAD v2 gnomAD v4
19g.38496575G>ACA2576770976RYR1c.6796+34G>A (n.6796+34G>A)
c.6793+34G>A (n.6793+34G>A)
c.248+34G>A
n.6879+34G>A
 gnomAD v4
19g.38496575G>CCA2584899376RYR1c.6796+34G>C (n.6796+34G>C)
c.6793+34G>C (n.6793+34G>C)
c.248+34G>C
n.6879+34G>C
 gnomAD v4
19g.38496575G>TCA2584899377RYR1c.6796+34G>T (n.6796+34G>T)
c.6793+34G>T (n.6793+34G>T)
c.248+34G>T
n.6879+34G>T
 gnomAD v4
19g.38496577A=CA2335051315RYR1c.6796+36A= (n.6796+36A=)
c.6793+36A= (n.6793+36A=)
c.248+36A=
n.6879+36A=
19g.38496577A>TCA2335051316RYR1c.6796+36A>T (n.6796+36A>T)
c.6793+36A>T (n.6793+36A>T)
c.248+36A>T
n.6879+36A>T
 dbSNP gnomAD v4
19g.38496577_38496583delinsACCCACTCA2335051314RYR1c.6796+36_6796+42delinsACCCACT (n.6796+36_6796+42delinsACCCACT)
c.6793+36_6793+42delinsACCCACT (n.6793+36_6793+42delinsACCCACT)
c.248+36_248+42delinsACCCACT
n.6879+36_6879+42delinsACCCACT

Number of alleles fetched