Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.237808953_237808955delCA2651216736RYR2c.*5443_*5445del (n.*5443_*5445del)
c.14333_14335del (p.Val4778del)
c.14372_14374del (p.Val4791del)
c.6522_6524del
c.14351_14353del (p.Val4784del)
c.14300_14302del (p.Val4767del)
n.862_864del
c.14405_14407del (p.Val4802del)
c.14402_14404del (p.Val4801del)
c.14381_14383del (p.Val4794del)
c.14375_14377del (p.Val4792del)
c.14369_14371del (p.Val4790del)
c.14345_14347del (p.Val4782del)
c.14168_14170del (p.Val4723del)
c.14312_14314del (p.Val4771del)
c.14384_14386del (p.Val4795del)
 gnomAD v4
1g.237808953T>ACA345424225RYR2c.*5443T>A (n.*5443T>A)
c.14333T>A (p.Val4778Glu)
c.14372T>A (p.Val4791Glu)
c.6522T>A
c.14351T>A (p.Val4784Glu)
c.14300T>A (p.Val4767Glu)
n.862T>A
c.14405T>A (p.Val4802Glu)
c.14402T>A (p.Val4801Glu)
c.14381T>A (p.Val4794Glu)
c.14375T>A (p.Val4792Glu)
c.14369T>A (p.Val4790Glu)
c.14345T>A (p.Val4782Glu)
c.14168T>A (p.Val4723Glu)
c.14312T>A (p.Val4771Glu)
c.14384T>A (p.Val4795Glu)
1g.237808953T>CCA345424227RYR2c.*5443T>C (n.*5443T>C)
c.14333T>C (p.Val4778Ala)
c.14372T>C (p.Val4791Ala)
c.6522T>C
c.14351T>C (p.Val4784Ala)
c.14300T>C (p.Val4767Ala)
n.862T>C
c.14405T>C (p.Val4802Ala)
c.14402T>C (p.Val4801Ala)
c.14381T>C (p.Val4794Ala)
c.14375T>C (p.Val4792Ala)
c.14369T>C (p.Val4790Ala)
c.14345T>C (p.Val4782Ala)
c.14168T>C (p.Val4723Ala)
c.14312T>C (p.Val4771Ala)
c.14384T>C (p.Val4795Ala)
1g.237808953T>GCA345424224RYR2c.*5443T>G (n.*5443T>G)
c.14333T>G (p.Val4778Gly)
c.14372T>G (p.Val4791Gly)
c.6522T>G
c.14351T>G (p.Val4784Gly)
c.14300T>G (p.Val4767Gly)
n.862T>G
c.14405T>G (p.Val4802Gly)
c.14402T>G (p.Val4801Gly)
c.14381T>G (p.Val4794Gly)
c.14375T>G (p.Val4792Gly)
c.14369T>G (p.Val4790Gly)
c.14345T>G (p.Val4782Gly)
c.14168T>G (p.Val4723Gly)
c.14312T>G (p.Val4771Gly)
c.14384T>G (p.Val4795Gly)
1g.237808954G>ACA085649RYR2c.*5444G>A (n.*5444G>A)
c.14334G>A (p.Val4778=)
c.14373G>A (p.Val4791=)
c.6523G>A
c.14352G>A (p.Val4784=)
c.14301G>A (p.Val4767=)
n.863G>A
c.14406G>A (p.Val4802=)
c.14403G>A (p.Val4801=)
c.14382G>A (p.Val4794=)
c.14376G>A (p.Val4792=)
c.14370G>A (p.Val4790=)
c.14346G>A (p.Val4782=)
c.14169G>A (p.Val4723=)
c.14313G>A (p.Val4771=)
c.14385G>A (p.Val4795=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.237808954G>CCA424051723RYR2c.*5444G>C (n.*5444G>C)
c.14334G>C (p.Val4778=)
c.14373G>C (p.Val4791=)
c.6523G>C
c.14352G>C (p.Val4784=)
c.14301G>C (p.Val4767=)
n.863G>C
c.14406G>C (p.Val4802=)
c.14403G>C (p.Val4801=)
c.14382G>C (p.Val4794=)
c.14376G>C (p.Val4792=)
c.14370G>C (p.Val4790=)
c.14346G>C (p.Val4782=)
c.14169G>C (p.Val4723=)
c.14313G>C (p.Val4771=)
c.14385G>C (p.Val4795=)
1g.237808954G=CA2487493390RYR2c.*5444G= (n.*5444G=)
c.14334G= (p.Val4778=)
c.14373G= (p.Val4791=)
c.6523G=
c.14352G= (p.Val4784=)
c.14301G= (p.Val4767=)
n.863G=
c.14406G= (p.Val4802=)
c.14403G= (p.Val4801=)
c.14382G= (p.Val4794=)
c.14376G= (p.Val4792=)
c.14370G= (p.Val4790=)
c.14346G= (p.Val4782=)
c.14169G= (p.Val4723=)
c.14313G= (p.Val4771=)
c.14385G= (p.Val4795=)
1g.237808954G>TCA424051724RYR2c.*5444G>T (n.*5444G>T)
c.14334G>T (p.Val4778=)
c.14373G>T (p.Val4791=)
c.6523G>T
c.14352G>T (p.Val4784=)
c.14301G>T (p.Val4767=)
n.863G>T
c.14406G>T (p.Val4802=)
c.14403G>T (p.Val4801=)
c.14382G>T (p.Val4794=)
c.14376G>T (p.Val4792=)
c.14370G>T (p.Val4790=)
c.14346G>T (p.Val4782=)
c.14169G>T (p.Val4723=)
c.14313G>T (p.Val4771=)
c.14385G>T (p.Val4795=)
 dbSNP
1g.237808955G>ACA345424229RYR2c.*5445G>A (n.*5445G>A)
c.14335G>A (p.Ala4779Thr)
c.14374G>A (p.Ala4792Thr)
c.6524G>A
c.14353G>A (p.Ala4785Thr)
c.14302G>A (p.Ala4768Thr)
n.864G>A
c.14407G>A (p.Ala4803Thr)
c.14404G>A (p.Ala4802Thr)
c.14383G>A (p.Ala4795Thr)
c.14377G>A (p.Ala4793Thr)
c.14371G>A (p.Ala4791Thr)
c.14347G>A (p.Ala4783Thr)
c.14170G>A (p.Ala4724Thr)
c.14314G>A (p.Ala4772Thr)
c.14386G>A (p.Ala4796Thr)
1g.237808955G>CCA345424231RYR2c.*5445G>C (n.*5445G>C)
c.14335G>C (p.Ala4779Pro)
c.14374G>C (p.Ala4792Pro)
c.6524G>C
c.14353G>C (p.Ala4785Pro)
c.14302G>C (p.Ala4768Pro)
n.864G>C
c.14407G>C (p.Ala4803Pro)
c.14404G>C (p.Ala4802Pro)
c.14383G>C (p.Ala4795Pro)
c.14377G>C (p.Ala4793Pro)
c.14371G>C (p.Ala4791Pro)
c.14347G>C (p.Ala4783Pro)
c.14170G>C (p.Ala4724Pro)
c.14314G>C (p.Ala4772Pro)
c.14386G>C (p.Ala4796Pro)
1g.237808955G>TCA345424233RYR2c.*5445G>T (n.*5445G>T)
c.14335G>T (p.Ala4779Ser)
c.14374G>T (p.Ala4792Ser)
c.6524G>T
c.14353G>T (p.Ala4785Ser)
c.14302G>T (p.Ala4768Ser)
n.864G>T
c.14407G>T (p.Ala4803Ser)
c.14404G>T (p.Ala4802Ser)
c.14383G>T (p.Ala4795Ser)
c.14377G>T (p.Ala4793Ser)
c.14371G>T (p.Ala4791Ser)
c.14347G>T (p.Ala4783Ser)
c.14170G>T (p.Ala4724Ser)
c.14314G>T (p.Ala4772Ser)
c.14386G>T (p.Ala4796Ser)
1g.237808956C>ACA345424235RYR2c.*5446C>A (n.*5446C>A)
c.14336C>A (p.Ala4779Glu)
c.14375C>A (p.Ala4792Glu)
c.6525C>A
c.14354C>A (p.Ala4785Glu)
c.14303C>A (p.Ala4768Glu)
n.865C>A
c.14408C>A (p.Ala4803Glu)
c.14405C>A (p.Ala4802Glu)
c.14384C>A (p.Ala4795Glu)
c.14378C>A (p.Ala4793Glu)
c.14372C>A (p.Ala4791Glu)
c.14348C>A (p.Ala4783Glu)
c.14171C>A (p.Ala4724Glu)
c.14315C>A (p.Ala4772Glu)
c.14387C>A (p.Ala4796Glu)
1g.237808956C>GCA345424236RYR2c.*5446C>G (n.*5446C>G)
c.14336C>G (p.Ala4779Gly)
c.14375C>G (p.Ala4792Gly)
c.6525C>G
c.14354C>G (p.Ala4785Gly)
c.14303C>G (p.Ala4768Gly)
n.865C>G
c.14408C>G (p.Ala4803Gly)
c.14405C>G (p.Ala4802Gly)
c.14384C>G (p.Ala4795Gly)
c.14378C>G (p.Ala4793Gly)
c.14372C>G (p.Ala4791Gly)
c.14348C>G (p.Ala4783Gly)
c.14171C>G (p.Ala4724Gly)
c.14315C>G (p.Ala4772Gly)
c.14387C>G (p.Ala4796Gly)
1g.237808956C>TCA345424238RYR2c.*5446C>T (n.*5446C>T)
c.14336C>T (p.Ala4779Val)
c.14375C>T (p.Ala4792Val)
c.6525C>T
c.14354C>T (p.Ala4785Val)
c.14303C>T (p.Ala4768Val)
n.865C>T
c.14408C>T (p.Ala4803Val)
c.14405C>T (p.Ala4802Val)
c.14384C>T (p.Ala4795Val)
c.14378C>T (p.Ala4793Val)
c.14372C>T (p.Ala4791Val)
c.14348C>T (p.Ala4783Val)
c.14171C>T (p.Ala4724Val)
c.14315C>T (p.Ala4772Val)
c.14387C>T (p.Ala4796Val)
1g.237808957A=CA2487493391RYR2c.*5447A= (n.*5447A=)
c.14337A= (p.Ala4779=)
c.14376A= (p.Ala4792=)
c.6526A=
c.14355A= (p.Ala4785=)
c.14304A= (p.Ala4768=)
n.866A=
c.14409A= (p.Ala4803=)
c.14406A= (p.Ala4802=)
c.14385A= (p.Ala4795=)
c.14379A= (p.Ala4793=)
c.14373A= (p.Ala4791=)
c.14349A= (p.Ala4783=)
c.14172A= (p.Ala4724=)
c.14316A= (p.Ala4772=)
c.14388A= (p.Ala4796=)
1g.237808957A>CCA424051725RYR2c.*5447A>C (n.*5447A>C)
c.14337A>C (p.Ala4779=)
c.14376A>C (p.Ala4792=)
c.6526A>C
c.14355A>C (p.Ala4785=)
c.14304A>C (p.Ala4768=)
n.866A>C
c.14409A>C (p.Ala4803=)
c.14406A>C (p.Ala4802=)
c.14385A>C (p.Ala4795=)
c.14379A>C (p.Ala4793=)
c.14373A>C (p.Ala4791=)
c.14349A>C (p.Ala4783=)
c.14172A>C (p.Ala4724=)
c.14316A>C (p.Ala4772=)
c.14388A>C (p.Ala4796=)
1g.237808957A>GCA424051726RYR2c.*5447A>G (n.*5447A>G)
c.14337A>G (p.Ala4779=)
c.14376A>G (p.Ala4792=)
c.6526A>G
c.14355A>G (p.Ala4785=)
c.14304A>G (p.Ala4768=)
n.866A>G
c.14409A>G (p.Ala4803=)
c.14406A>G (p.Ala4802=)
c.14385A>G (p.Ala4795=)
c.14379A>G (p.Ala4793=)
c.14373A>G (p.Ala4791=)
c.14349A>G (p.Ala4783=)
c.14172A>G (p.Ala4724=)
c.14316A>G (p.Ala4772=)
c.14388A>G (p.Ala4796=)
 dbSNP gnomAD v4
1g.237808957A>TCA424051727RYR2c.*5447A>T (n.*5447A>T)
c.14337A>T (p.Ala4779=)
c.14376A>T (p.Ala4792=)
c.6526A>T
c.14355A>T (p.Ala4785=)
c.14304A>T (p.Ala4768=)
n.866A>T
c.14409A>T (p.Ala4803=)
c.14406A>T (p.Ala4802=)
c.14385A>T (p.Ala4795=)
c.14379A>T (p.Ala4793=)
c.14373A>T (p.Ala4791=)
c.14349A>T (p.Ala4783=)
c.14172A>T (p.Ala4724=)
c.14316A>T (p.Ala4772=)
c.14388A>T (p.Ala4796=)
1g.237808958T>ACA345424239RYR2c.*5448T>A (n.*5448T>A)
c.14338T>A (p.Phe4780Ile)
c.14377T>A (p.Phe4793Ile)
c.6527T>A
c.14356T>A (p.Phe4786Ile)
c.14305T>A (p.Phe4769Ile)
n.867T>A
c.14410T>A (p.Phe4804Ile)
c.14407T>A (p.Phe4803Ile)
c.14386T>A (p.Phe4796Ile)
c.14380T>A (p.Phe4794Ile)
c.14374T>A (p.Phe4792Ile)
c.14350T>A (p.Phe4784Ile)
c.14173T>A (p.Phe4725Ile)
c.14317T>A (p.Phe4773Ile)
c.14389T>A (p.Phe4797Ile)
1g.237808958T>CCA345424240RYR2c.*5448T>C (n.*5448T>C)
c.14338T>C (p.Phe4780Leu)
c.14377T>C (p.Phe4793Leu)
c.6527T>C
c.14356T>C (p.Phe4786Leu)
c.14305T>C (p.Phe4769Leu)
n.867T>C
c.14410T>C (p.Phe4804Leu)
c.14407T>C (p.Phe4803Leu)
c.14386T>C (p.Phe4796Leu)
c.14380T>C (p.Phe4794Leu)
c.14374T>C (p.Phe4792Leu)
c.14350T>C (p.Phe4784Leu)
c.14173T>C (p.Phe4725Leu)
c.14317T>C (p.Phe4773Leu)
c.14389T>C (p.Phe4797Leu)
1g.237808958T>GCA345424242RYR2c.*5448T>G (n.*5448T>G)
c.14338T>G (p.Phe4780Val)
c.14377T>G (p.Phe4793Val)
c.6527T>G
c.14356T>G (p.Phe4786Val)
c.14305T>G (p.Phe4769Val)
n.867T>G
c.14410T>G (p.Phe4804Val)
c.14407T>G (p.Phe4803Val)
c.14386T>G (p.Phe4796Val)
c.14380T>G (p.Phe4794Val)
c.14374T>G (p.Phe4792Val)
c.14350T>G (p.Phe4784Val)
c.14173T>G (p.Phe4725Val)
c.14317T>G (p.Phe4773Val)
c.14389T>G (p.Phe4797Val)
1g.237808959T>ACA345424244RYR2c.*5449T>A (n.*5449T>A)
c.14339T>A (p.Phe4780Tyr)
c.14378T>A (p.Phe4793Tyr)
c.6528T>A
c.14357T>A (p.Phe4786Tyr)
c.14306T>A (p.Phe4769Tyr)
n.868T>A
c.14411T>A (p.Phe4804Tyr)
c.14408T>A (p.Phe4803Tyr)
c.14387T>A (p.Phe4796Tyr)
c.14381T>A (p.Phe4794Tyr)
c.14375T>A (p.Phe4792Tyr)
c.14351T>A (p.Phe4784Tyr)
c.14174T>A (p.Phe4725Tyr)
c.14318T>A (p.Phe4773Tyr)
c.14390T>A (p.Phe4797Tyr)
1g.237808959T>CCA345424246RYR2c.*5449T>C (n.*5449T>C)
c.14339T>C (p.Phe4780Ser)
c.14378T>C (p.Phe4793Ser)
c.6528T>C
c.14357T>C (p.Phe4786Ser)
c.14306T>C (p.Phe4769Ser)
n.868T>C
c.14411T>C (p.Phe4804Ser)
c.14408T>C (p.Phe4803Ser)
c.14387T>C (p.Phe4796Ser)
c.14381T>C (p.Phe4794Ser)
c.14375T>C (p.Phe4792Ser)
c.14351T>C (p.Phe4784Ser)
c.14174T>C (p.Phe4725Ser)
c.14318T>C (p.Phe4773Ser)
c.14390T>C (p.Phe4797Ser)
1g.237808959T>GCA345424248RYR2c.*5449T>G (n.*5449T>G)
c.14339T>G (p.Phe4780Cys)
c.14378T>G (p.Phe4793Cys)
c.6528T>G
c.14357T>G (p.Phe4786Cys)
c.14306T>G (p.Phe4769Cys)
n.868T>G
c.14411T>G (p.Phe4804Cys)
c.14408T>G (p.Phe4803Cys)
c.14387T>G (p.Phe4796Cys)
c.14381T>G (p.Phe4794Cys)
c.14375T>G (p.Phe4792Cys)
c.14351T>G (p.Phe4784Cys)
c.14174T>G (p.Phe4725Cys)
c.14318T>G (p.Phe4773Cys)
c.14390T>G (p.Phe4797Cys)
1g.237808960C>ACA345424251RYR2c.*5450C>A (n.*5450C>A)
c.14340C>A (p.Phe4780Leu)
c.14379C>A (p.Phe4793Leu)
c.6529C>A
c.14358C>A (p.Phe4786Leu)
c.14307C>A (p.Phe4769Leu)
n.869C>A
c.14412C>A (p.Phe4804Leu)
c.14409C>A (p.Phe4803Leu)
c.14388C>A (p.Phe4796Leu)
c.14382C>A (p.Phe4794Leu)
c.14376C>A (p.Phe4792Leu)
c.14352C>A (p.Phe4784Leu)
c.14175C>A (p.Phe4725Leu)
c.14319C>A (p.Phe4773Leu)
c.14391C>A (p.Phe4797Leu)
1g.237808960C>GCA345424250RYR2c.*5450C>G (n.*5450C>G)
c.14340C>G (p.Phe4780Leu)
c.14379C>G (p.Phe4793Leu)
c.6529C>G
c.14358C>G (p.Phe4786Leu)
c.14307C>G (p.Phe4769Leu)
n.869C>G
c.14412C>G (p.Phe4804Leu)
c.14409C>G (p.Phe4803Leu)
c.14388C>G (p.Phe4796Leu)
c.14382C>G (p.Phe4794Leu)
c.14376C>G (p.Phe4792Leu)
c.14352C>G (p.Phe4784Leu)
c.14175C>G (p.Phe4725Leu)
c.14319C>G (p.Phe4773Leu)
c.14391C>G (p.Phe4797Leu)
1g.237808960C>TCA424051728RYR2c.*5450C>T (n.*5450C>T)
c.14340C>T (p.Phe4780=)
c.14379C>T (p.Phe4793=)
c.6529C>T
c.14358C>T (p.Phe4786=)
c.14307C>T (p.Phe4769=)
n.869C>T
c.14412C>T (p.Phe4804=)
c.14409C>T (p.Phe4803=)
c.14388C>T (p.Phe4796=)
c.14382C>T (p.Phe4794=)
c.14376C>T (p.Phe4792=)
c.14352C>T (p.Phe4784=)
c.14175C>T (p.Phe4725=)
c.14319C>T (p.Phe4773=)
c.14391C>T (p.Phe4797=)
1g.237808961A>CCA345424253RYR2c.*5451A>C (n.*5451A>C)
c.14341A>C (p.Asn4781His)
c.14380A>C (p.Asn4794His)
c.6530A>C
c.14359A>C (p.Asn4787His)
c.14308A>C (p.Asn4770His)
n.870A>C
c.14413A>C (p.Asn4805His)
c.14410A>C (p.Asn4804His)
c.14389A>C (p.Asn4797His)
c.14383A>C (p.Asn4795His)
c.14377A>C (p.Asn4793His)
c.14353A>C (p.Asn4785His)
c.14176A>C (p.Asn4726His)
c.14320A>C (p.Asn4774His)
c.14392A>C (p.Asn4798His)
 gnomAD v4
1g.237808961A>GCA345424255RYR2c.*5451A>G (n.*5451A>G)
c.14341A>G (p.Asn4781Asp)
c.14380A>G (p.Asn4794Asp)
c.6530A>G
c.14359A>G (p.Asn4787Asp)
c.14308A>G (p.Asn4770Asp)
n.870A>G
c.14413A>G (p.Asn4805Asp)
c.14410A>G (p.Asn4804Asp)
c.14389A>G (p.Asn4797Asp)
c.14383A>G (p.Asn4795Asp)
c.14377A>G (p.Asn4793Asp)
c.14353A>G (p.Asn4785Asp)
c.14176A>G (p.Asn4726Asp)
c.14320A>G (p.Asn4774Asp)
c.14392A>G (p.Asn4798Asp)
1g.237808961A>TCA345424259RYR2c.*5451A>T (n.*5451A>T)
c.14341A>T (p.Asn4781Tyr)
c.14380A>T (p.Asn4794Tyr)
c.6530A>T
c.14359A>T (p.Asn4787Tyr)
c.14308A>T (p.Asn4770Tyr)
n.870A>T
c.14413A>T (p.Asn4805Tyr)
c.14410A>T (p.Asn4804Tyr)
c.14389A>T (p.Asn4797Tyr)
c.14383A>T (p.Asn4795Tyr)
c.14377A>T (p.Asn4793Tyr)
c.14353A>T (p.Asn4785Tyr)
c.14176A>T (p.Asn4726Tyr)
c.14320A>T (p.Asn4774Tyr)
c.14392A>T (p.Asn4798Tyr)
1g.237808962A=CA2487493392RYR2c.*5452A= (n.*5452A=)
c.14342A= (p.Asn4781=)
c.14381A= (p.Asn4794=)
c.6531A=
c.14360A= (p.Asn4787=)
c.14309A= (p.Asn4770=)
n.871A=
c.14414A= (p.Asn4805=)
c.14411A= (p.Asn4804=)
c.14390A= (p.Asn4797=)
c.14384A= (p.Asn4795=)
c.14378A= (p.Asn4793=)
c.14354A= (p.Asn4785=)
c.14177A= (p.Asn4726=)
c.14321A= (p.Asn4774=)
c.14393A= (p.Asn4798=)
1g.237808962A>CCA345424262RYR2c.*5452A>C (n.*5452A>C)
c.14342A>C (p.Asn4781Thr)
c.14381A>C (p.Asn4794Thr)
c.6531A>C
c.14360A>C (p.Asn4787Thr)
c.14309A>C (p.Asn4770Thr)
n.871A>C
c.14414A>C (p.Asn4805Thr)
c.14411A>C (p.Asn4804Thr)
c.14390A>C (p.Asn4797Thr)
c.14384A>C (p.Asn4795Thr)
c.14378A>C (p.Asn4793Thr)
c.14354A>C (p.Asn4785Thr)
c.14177A>C (p.Asn4726Thr)
c.14321A>C (p.Asn4774Thr)
c.14393A>C (p.Asn4798Thr)
1g.237808962A>GCA345424264RYR2c.*5452A>G (n.*5452A>G)
c.14342A>G (p.Asn4781Ser)
c.14381A>G (p.Asn4794Ser)
c.6531A>G
c.14360A>G (p.Asn4787Ser)
c.14309A>G (p.Asn4770Ser)
n.871A>G
c.14414A>G (p.Asn4805Ser)
c.14411A>G (p.Asn4804Ser)
c.14390A>G (p.Asn4797Ser)
c.14384A>G (p.Asn4795Ser)
c.14378A>G (p.Asn4793Ser)
c.14354A>G (p.Asn4785Ser)
c.14177A>G (p.Asn4726Ser)
c.14321A>G (p.Asn4774Ser)
c.14393A>G (p.Asn4798Ser)
 dbSNP gnomAD v3 gnomAD v4
1g.237808962A>TCA345424266RYR2c.*5452A>T (n.*5452A>T)
c.14342A>T (p.Asn4781Ile)
c.14381A>T (p.Asn4794Ile)
c.6531A>T
c.14360A>T (p.Asn4787Ile)
c.14309A>T (p.Asn4770Ile)
n.871A>T
c.14414A>T (p.Asn4805Ile)
c.14411A>T (p.Asn4804Ile)
c.14390A>T (p.Asn4797Ile)
c.14384A>T (p.Asn4795Ile)
c.14378A>T (p.Asn4793Ile)
c.14354A>T (p.Asn4785Ile)
c.14177A>T (p.Asn4726Ile)
c.14321A>T (p.Asn4774Ile)
c.14393A>T (p.Asn4798Ile)
 COSMIC
1g.237808963T>ACA345424267RYR2c.*5453T>A (n.*5453T>A)
c.14343T>A (p.Asn4781Lys)
c.14382T>A (p.Asn4794Lys)
c.6532T>A
c.14361T>A (p.Asn4787Lys)
c.14310T>A (p.Asn4770Lys)
n.872T>A
c.14415T>A (p.Asn4805Lys)
c.14412T>A (p.Asn4804Lys)
c.14391T>A (p.Asn4797Lys)
c.14385T>A (p.Asn4795Lys)
c.14379T>A (p.Asn4793Lys)
c.14355T>A (p.Asn4785Lys)
c.14178T>A (p.Asn4726Lys)
c.14322T>A (p.Asn4774Lys)
c.14394T>A (p.Asn4798Lys)
1g.237808963T>CCA424051729RYR2c.*5453T>C (n.*5453T>C)
c.14343T>C (p.Asn4781=)
c.14382T>C (p.Asn4794=)
c.6532T>C
c.14361T>C (p.Asn4787=)
c.14310T>C (p.Asn4770=)
n.872T>C
c.14415T>C (p.Asn4805=)
c.14412T>C (p.Asn4804=)
c.14391T>C (p.Asn4797=)
c.14385T>C (p.Asn4795=)
c.14379T>C (p.Asn4793=)
c.14355T>C (p.Asn4785=)
c.14178T>C (p.Asn4726=)
c.14322T>C (p.Asn4774=)
c.14394T>C (p.Asn4798=)
 ClinVar dbSNP
1g.237808963T>GCA345424268RYR2c.*5453T>G (n.*5453T>G)
c.14343T>G (p.Asn4781Lys)
c.14382T>G (p.Asn4794Lys)
c.6532T>G
c.14361T>G (p.Asn4787Lys)
c.14310T>G (p.Asn4770Lys)
n.872T>G
c.14415T>G (p.Asn4805Lys)
c.14412T>G (p.Asn4804Lys)
c.14391T>G (p.Asn4797Lys)
c.14385T>G (p.Asn4795Lys)
c.14379T>G (p.Asn4793Lys)
c.14355T>G (p.Asn4785Lys)
c.14178T>G (p.Asn4726Lys)
c.14322T>G (p.Asn4774Lys)
c.14394T>G (p.Asn4798Lys)
 dbSNP gnomAD v2 gnomAD v4
1g.237808963T=CA2487493393RYR2c.*5453T= (n.*5453T=)
c.14343T= (p.Asn4781=)
c.14382T= (p.Asn4794=)
c.6532T=
c.14361T= (p.Asn4787=)
c.14310T= (p.Asn4770=)
n.872T=
c.14415T= (p.Asn4805=)
c.14412T= (p.Asn4804=)
c.14391T= (p.Asn4797=)
c.14385T= (p.Asn4795=)
c.14379T= (p.Asn4793=)
c.14355T= (p.Asn4785=)
c.14178T= (p.Asn4726=)
c.14322T= (p.Asn4774=)
c.14394T= (p.Asn4798=)
1g.237808968dupCA645515560RYR2c.*5458dup (n.*5458dup)
c.14348dup (p.Arg4784ProfsTer6)
c.14387dup (p.Arg4797ProfsTer6)
c.6537dup
c.14366dup (p.Arg4790ProfsTer6)
c.14315dup (p.Arg4773ProfsTer6)
n.877dup
c.14420dup (p.Arg4808ProfsTer6)
c.14417dup (p.Arg4807ProfsTer6)
c.14396dup (p.Arg4800ProfsTer6)
c.14390dup (p.Arg4798ProfsTer6)
c.14384dup (p.Arg4796ProfsTer6)
c.14360dup (p.Arg4788ProfsTer6)
c.14183dup (p.Arg4729ProfsTer6)
c.14327dup (p.Arg4777ProfsTer6)
c.14399dup (p.Arg4801ProfsTer6)
 gnomAD v4 COSMIC COSMIC
1g.237808968delCA2825000939RYR2c.*5458del (n.*5458del)
c.14348del (p.Phe4783SerfsTer16)
c.14387del (p.Phe4796SerfsTer16)
c.6537del
c.14366del (p.Phe4789SerfsTer16)
c.14315del (p.Phe4772SerfsTer16)
n.877del
c.14420del (p.Phe4807SerfsTer16)
c.14417del (p.Phe4806SerfsTer16)
c.14396del (p.Phe4799SerfsTer16)
c.14390del (p.Phe4797SerfsTer16)
c.14384del (p.Phe4795SerfsTer16)
c.14360del (p.Phe4787SerfsTer16)
c.14183del (p.Phe4728SerfsTer16)
c.14327del (p.Phe4776SerfsTer16)
c.14399del (p.Phe4800SerfsTer16)
 ClinVar
1g.237808964T>ACA345424270RYR2c.*5454T>A (n.*5454T>A)
c.14344T>A (p.Phe4782Ile)
c.14383T>A (p.Phe4795Ile)
c.6533T>A
c.14362T>A (p.Phe4788Ile)
c.14311T>A (p.Phe4771Ile)
n.873T>A
c.14416T>A (p.Phe4806Ile)
c.14413T>A (p.Phe4805Ile)
c.14392T>A (p.Phe4798Ile)
c.14386T>A (p.Phe4796Ile)
c.14380T>A (p.Phe4794Ile)
c.14356T>A (p.Phe4786Ile)
c.14179T>A (p.Phe4727Ile)
c.14323T>A (p.Phe4775Ile)
c.14395T>A (p.Phe4799Ile)
1g.237808964T>CCA345424272RYR2c.*5454T>C (n.*5454T>C)
c.14344T>C (p.Phe4782Leu)
c.14383T>C (p.Phe4795Leu)
c.6533T>C
c.14362T>C (p.Phe4788Leu)
c.14311T>C (p.Phe4771Leu)
n.873T>C
c.14416T>C (p.Phe4806Leu)
c.14413T>C (p.Phe4805Leu)
c.14392T>C (p.Phe4798Leu)
c.14386T>C (p.Phe4796Leu)
c.14380T>C (p.Phe4794Leu)
c.14356T>C (p.Phe4786Leu)
c.14179T>C (p.Phe4727Leu)
c.14323T>C (p.Phe4775Leu)
c.14395T>C (p.Phe4799Leu)
1g.237808964T>GCA345424274RYR2c.*5454T>G (n.*5454T>G)
c.14344T>G (p.Phe4782Val)
c.14383T>G (p.Phe4795Val)
c.6533T>G
c.14362T>G (p.Phe4788Val)
c.14311T>G (p.Phe4771Val)
n.873T>G
c.14416T>G (p.Phe4806Val)
c.14413T>G (p.Phe4805Val)
c.14392T>G (p.Phe4798Val)
c.14386T>G (p.Phe4796Val)
c.14380T>G (p.Phe4794Val)
c.14356T>G (p.Phe4786Val)
c.14179T>G (p.Phe4727Val)
c.14323T>G (p.Phe4775Val)
c.14395T>G (p.Phe4799Val)
1g.237808965T>ACA345424275RYR2c.*5455T>A (n.*5455T>A)
c.14345T>A (p.Phe4782Tyr)
c.14384T>A (p.Phe4795Tyr)
c.6534T>A
c.14363T>A (p.Phe4788Tyr)
c.14312T>A (p.Phe4771Tyr)
n.874T>A
c.14417T>A (p.Phe4806Tyr)
c.14414T>A (p.Phe4805Tyr)
c.14393T>A (p.Phe4798Tyr)
c.14387T>A (p.Phe4796Tyr)
c.14381T>A (p.Phe4794Tyr)
c.14357T>A (p.Phe4786Tyr)
c.14180T>A (p.Phe4727Tyr)
c.14324T>A (p.Phe4775Tyr)
c.14396T>A (p.Phe4799Tyr)
1g.237808965T>CCA345424277RYR2c.*5455T>C (n.*5455T>C)
c.14345T>C (p.Phe4782Ser)
c.14384T>C (p.Phe4795Ser)
c.6534T>C
c.14363T>C (p.Phe4788Ser)
c.14312T>C (p.Phe4771Ser)
n.874T>C
c.14417T>C (p.Phe4806Ser)
c.14414T>C (p.Phe4805Ser)
c.14393T>C (p.Phe4798Ser)
c.14387T>C (p.Phe4796Ser)
c.14381T>C (p.Phe4794Ser)
c.14357T>C (p.Phe4786Ser)
c.14180T>C (p.Phe4727Ser)
c.14324T>C (p.Phe4775Ser)
c.14396T>C (p.Phe4799Ser)
1g.237808965T>GCA345424279RYR2c.*5455T>G (n.*5455T>G)
c.14345T>G (p.Phe4782Cys)
c.14384T>G (p.Phe4795Cys)
c.6534T>G
c.14363T>G (p.Phe4788Cys)
c.14312T>G (p.Phe4771Cys)
n.874T>G
c.14417T>G (p.Phe4806Cys)
c.14414T>G (p.Phe4805Cys)
c.14393T>G (p.Phe4798Cys)
c.14387T>G (p.Phe4796Cys)
c.14381T>G (p.Phe4794Cys)
c.14357T>G (p.Phe4786Cys)
c.14180T>G (p.Phe4727Cys)
c.14324T>G (p.Phe4775Cys)
c.14396T>G (p.Phe4799Cys)
 ClinVar gnomAD v4
1g.237808966T>ACA345424282RYR2c.*5456T>A (n.*5456T>A)
c.14346T>A (p.Phe4782Leu)
c.14385T>A (p.Phe4795Leu)
c.6535T>A
c.14364T>A (p.Phe4788Leu)
c.14313T>A (p.Phe4771Leu)
n.875T>A
c.14418T>A (p.Phe4806Leu)
c.14415T>A (p.Phe4805Leu)
c.14394T>A (p.Phe4798Leu)
c.14388T>A (p.Phe4796Leu)
c.14382T>A (p.Phe4794Leu)
c.14358T>A (p.Phe4786Leu)
c.14181T>A (p.Phe4727Leu)
c.14325T>A (p.Phe4775Leu)
c.14397T>A (p.Phe4799Leu)
1g.237808966T>CCA424051730RYR2c.*5456T>C (n.*5456T>C)
c.14346T>C (p.Phe4782=)
c.14385T>C (p.Phe4795=)
c.6535T>C
c.14364T>C (p.Phe4788=)
c.14313T>C (p.Phe4771=)
n.875T>C
c.14418T>C (p.Phe4806=)
c.14415T>C (p.Phe4805=)
c.14394T>C (p.Phe4798=)
c.14388T>C (p.Phe4796=)
c.14382T>C (p.Phe4794=)
c.14358T>C (p.Phe4786=)
c.14181T>C (p.Phe4727=)
c.14325T>C (p.Phe4775=)
c.14397T>C (p.Phe4799=)
1g.237808966T>GCA345424280RYR2c.*5456T>G (n.*5456T>G)
c.14346T>G (p.Phe4782Leu)
c.14385T>G (p.Phe4795Leu)
c.6535T>G
c.14364T>G (p.Phe4788Leu)
c.14313T>G (p.Phe4771Leu)
n.875T>G
c.14418T>G (p.Phe4806Leu)
c.14415T>G (p.Phe4805Leu)
c.14394T>G (p.Phe4798Leu)
c.14388T>G (p.Phe4796Leu)
c.14382T>G (p.Phe4794Leu)
c.14358T>G (p.Phe4786Leu)
c.14181T>G (p.Phe4727Leu)
c.14325T>G (p.Phe4775Leu)
c.14397T>G (p.Phe4799Leu)
 gnomAD v4
1g.237808967T>ACA345424283RYR2c.*5457T>A (n.*5457T>A)
c.14347T>A (p.Phe4783Ile)
c.14386T>A (p.Phe4796Ile)
c.6536T>A
c.14365T>A (p.Phe4789Ile)
c.14314T>A (p.Phe4772Ile)
n.876T>A
c.14419T>A (p.Phe4807Ile)
c.14416T>A (p.Phe4806Ile)
c.14395T>A (p.Phe4799Ile)
c.14389T>A (p.Phe4797Ile)
c.14383T>A (p.Phe4795Ile)
c.14359T>A (p.Phe4787Ile)
c.14182T>A (p.Phe4728Ile)
c.14326T>A (p.Phe4776Ile)
c.14398T>A (p.Phe4800Ile)
1g.237808967T>CCA345424285RYR2c.*5457T>C (n.*5457T>C)
c.14347T>C (p.Phe4783Leu)
c.14386T>C (p.Phe4796Leu)
c.6536T>C
c.14365T>C (p.Phe4789Leu)
c.14314T>C (p.Phe4772Leu)
n.876T>C
c.14419T>C (p.Phe4807Leu)
c.14416T>C (p.Phe4806Leu)
c.14395T>C (p.Phe4799Leu)
c.14389T>C (p.Phe4797Leu)
c.14383T>C (p.Phe4795Leu)
c.14359T>C (p.Phe4787Leu)
c.14182T>C (p.Phe4728Leu)
c.14326T>C (p.Phe4776Leu)
c.14398T>C (p.Phe4800Leu)
1g.237808967T>GCA345424284RYR2c.*5457T>G (n.*5457T>G)
c.14347T>G (p.Phe4783Val)
c.14386T>G (p.Phe4796Val)
c.6536T>G
c.14365T>G (p.Phe4789Val)
c.14314T>G (p.Phe4772Val)
n.876T>G
c.14419T>G (p.Phe4807Val)
c.14416T>G (p.Phe4806Val)
c.14395T>G (p.Phe4799Val)
c.14389T>G (p.Phe4797Val)
c.14383T>G (p.Phe4795Val)
c.14359T>G (p.Phe4787Val)
c.14182T>G (p.Phe4728Val)
c.14326T>G (p.Phe4776Val)
c.14398T>G (p.Phe4800Val)
1g.237808968T>ACA345424288RYR2c.*5458T>A (n.*5458T>A)
c.14348T>A (p.Phe4783Tyr)
c.14387T>A (p.Phe4796Tyr)
c.6537T>A
c.14366T>A (p.Phe4789Tyr)
c.14315T>A (p.Phe4772Tyr)
n.877T>A
c.14420T>A (p.Phe4807Tyr)
c.14417T>A (p.Phe4806Tyr)
c.14396T>A (p.Phe4799Tyr)
c.14390T>A (p.Phe4797Tyr)
c.14384T>A (p.Phe4795Tyr)
c.14360T>A (p.Phe4787Tyr)
c.14183T>A (p.Phe4728Tyr)
c.14327T>A (p.Phe4776Tyr)
c.14399T>A (p.Phe4800Tyr)
1g.237808968T>CCA345424290RYR2c.*5458T>C (n.*5458T>C)
c.14348T>C (p.Phe4783Ser)
c.14387T>C (p.Phe4796Ser)
c.6537T>C
c.14366T>C (p.Phe4789Ser)
c.14315T>C (p.Phe4772Ser)
n.877T>C
c.14420T>C (p.Phe4807Ser)
c.14417T>C (p.Phe4806Ser)
c.14396T>C (p.Phe4799Ser)
c.14390T>C (p.Phe4797Ser)
c.14384T>C (p.Phe4795Ser)
c.14360T>C (p.Phe4787Ser)
c.14183T>C (p.Phe4728Ser)
c.14327T>C (p.Phe4776Ser)
c.14399T>C (p.Phe4800Ser)
1g.237808968T>GCA345424292RYR2c.*5458T>G (n.*5458T>G)
c.14348T>G (p.Phe4783Cys)
c.14387T>G (p.Phe4796Cys)
c.6537T>G
c.14366T>G (p.Phe4789Cys)
c.14315T>G (p.Phe4772Cys)
n.877T>G
c.14420T>G (p.Phe4807Cys)
c.14417T>G (p.Phe4806Cys)
c.14396T>G (p.Phe4799Cys)
c.14390T>G (p.Phe4797Cys)
c.14384T>G (p.Phe4795Cys)
c.14360T>G (p.Phe4787Cys)
c.14183T>G (p.Phe4728Cys)
c.14327T>G (p.Phe4776Cys)
c.14399T>G (p.Phe4800Cys)
1g.237808969C>ACA345424294RYR2c.*5459C>A (n.*5459C>A)
c.14349C>A (p.Phe4783Leu)
c.14388C>A (p.Phe4796Leu)
c.6538C>A
c.14367C>A (p.Phe4789Leu)
c.14316C>A (p.Phe4772Leu)
n.878C>A
c.14421C>A (p.Phe4807Leu)
c.14418C>A (p.Phe4806Leu)
c.14397C>A (p.Phe4799Leu)
c.14391C>A (p.Phe4797Leu)
c.14385C>A (p.Phe4795Leu)
c.14361C>A (p.Phe4787Leu)
c.14184C>A (p.Phe4728Leu)
c.14328C>A (p.Phe4776Leu)
c.14400C>A (p.Phe4800Leu)
1g.237808969C>GCA345424296RYR2c.*5459C>G (n.*5459C>G)
c.14349C>G (p.Phe4783Leu)
c.14388C>G (p.Phe4796Leu)
c.6538C>G
c.14367C>G (p.Phe4789Leu)
c.14316C>G (p.Phe4772Leu)
n.878C>G
c.14421C>G (p.Phe4807Leu)
c.14418C>G (p.Phe4806Leu)
c.14397C>G (p.Phe4799Leu)
c.14391C>G (p.Phe4797Leu)
c.14385C>G (p.Phe4795Leu)
c.14361C>G (p.Phe4787Leu)
c.14184C>G (p.Phe4728Leu)
c.14328C>G (p.Phe4776Leu)
c.14400C>G (p.Phe4800Leu)
1g.237808969C>TCA424051731RYR2c.*5459C>T (n.*5459C>T)
c.14349C>T (p.Phe4783=)
c.14388C>T (p.Phe4796=)
c.6538C>T
c.14367C>T (p.Phe4789=)
c.14316C>T (p.Phe4772=)
n.878C>T
c.14421C>T (p.Phe4807=)
c.14418C>T (p.Phe4806=)
c.14397C>T (p.Phe4799=)
c.14391C>T (p.Phe4797=)
c.14385C>T (p.Phe4795=)
c.14361C>T (p.Phe4787=)
c.14184C>T (p.Phe4728=)
c.14328C>T (p.Phe4776=)
c.14400C>T (p.Phe4800=)
1g.237808970C>ACA424051732RYR2c.*5460C>A (n.*5460C>A)
c.14350C>A (p.Arg4784=)
c.14389C>A (p.Arg4797=)
c.6539C>A
c.14368C>A (p.Arg4790=)
c.14317C>A (p.Arg4773=)
n.879C>A
c.14422C>A (p.Arg4808=)
c.14419C>A (p.Arg4807=)
c.14398C>A (p.Arg4800=)
c.14392C>A (p.Arg4798=)
c.14386C>A (p.Arg4796=)
c.14362C>A (p.Arg4788=)
c.14185C>A (p.Arg4729=)
c.14329C>A (p.Arg4777=)
c.14401C>A (p.Arg4801=)
 gnomAD v4
1g.237808970C=CA2487493394RYR2c.*5460C= (n.*5460C=)
c.14350C= (p.Arg4784=)
c.14389C= (p.Arg4797=)
c.6539C=
c.14368C= (p.Arg4790=)
c.14317C= (p.Arg4773=)
n.879C=
c.14422C= (p.Arg4808=)
c.14419C= (p.Arg4807=)
c.14398C= (p.Arg4800=)
c.14392C= (p.Arg4798=)
c.14386C= (p.Arg4796=)
c.14362C= (p.Arg4788=)
c.14185C= (p.Arg4729=)
c.14329C= (p.Arg4777=)
c.14401C= (p.Arg4801=)
1g.237808970C>GCA345424298RYR2c.*5460C>G (n.*5460C>G)
c.14350C>G (p.Arg4784Gly)
c.14389C>G (p.Arg4797Gly)
c.6539C>G
c.14368C>G (p.Arg4790Gly)
c.14317C>G (p.Arg4773Gly)
n.879C>G
c.14422C>G (p.Arg4808Gly)
c.14419C>G (p.Arg4807Gly)
c.14398C>G (p.Arg4800Gly)
c.14392C>G (p.Arg4798Gly)
c.14386C>G (p.Arg4796Gly)
c.14362C>G (p.Arg4788Gly)
c.14185C>G (p.Arg4729Gly)
c.14329C>G (p.Arg4777Gly)
c.14401C>G (p.Arg4801Gly)
1g.237808970C>TCA345424300RYR2c.*5460C>T (n.*5460C>T)
c.14350C>T (p.Arg4784Ter)
c.14389C>T (p.Arg4797Ter)
c.6539C>T
c.14368C>T (p.Arg4790Ter)
c.14317C>T (p.Arg4773Ter)
n.879C>T
c.14422C>T (p.Arg4808Ter)
c.14419C>T (p.Arg4807Ter)
c.14398C>T (p.Arg4800Ter)
c.14392C>T (p.Arg4798Ter)
c.14386C>T (p.Arg4796Ter)
c.14362C>T (p.Arg4788Ter)
c.14185C>T (p.Arg4729Ter)
c.14329C>T (p.Arg4777Ter)
c.14401C>T (p.Arg4801Ter)
 ClinVar dbSNP gnomAD v4
1g.237808971G>ACA085650RYR2c.*5461G>A (n.*5461G>A)
c.14351G>A (p.Arg4784Gln)
c.14390G>A (p.Arg4797Gln)
c.6540G>A
c.14369G>A (p.Arg4790Gln)
c.14318G>A (p.Arg4773Gln)
n.880G>A
c.14423G>A (p.Arg4808Gln)
c.14420G>A (p.Arg4807Gln)
c.14399G>A (p.Arg4800Gln)
c.14393G>A (p.Arg4798Gln)
c.14387G>A (p.Arg4796Gln)
c.14363G>A (p.Arg4788Gln)
c.14186G>A (p.Arg4729Gln)
c.14330G>A (p.Arg4777Gln)
c.14402G>A (p.Arg4801Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.237808971G>CCA345424304RYR2c.*5461G>C (n.*5461G>C)
c.14351G>C (p.Arg4784Pro)
c.14390G>C (p.Arg4797Pro)
c.6540G>C
c.14369G>C (p.Arg4790Pro)
c.14318G>C (p.Arg4773Pro)
n.880G>C
c.14423G>C (p.Arg4808Pro)
c.14420G>C (p.Arg4807Pro)
c.14399G>C (p.Arg4800Pro)
c.14393G>C (p.Arg4798Pro)
c.14387G>C (p.Arg4796Pro)
c.14363G>C (p.Arg4788Pro)
c.14186G>C (p.Arg4729Pro)
c.14330G>C (p.Arg4777Pro)
c.14402G>C (p.Arg4801Pro)
1g.237808971G=CA2487493395RYR2c.*5461G= (n.*5461G=)
c.14351G= (p.Arg4784=)
c.14390G= (p.Arg4797=)
c.6540G=
c.14369G= (p.Arg4790=)
c.14318G= (p.Arg4773=)
n.880G=
c.14423G= (p.Arg4808=)
c.14420G= (p.Arg4807=)
c.14399G= (p.Arg4800=)
c.14393G= (p.Arg4798=)
c.14387G= (p.Arg4796=)
c.14363G= (p.Arg4788=)
c.14186G= (p.Arg4729=)
c.14330G= (p.Arg4777=)
c.14402G= (p.Arg4801=)
1g.237808971G>TCA345424306RYR2c.*5461G>T (n.*5461G>T)
c.14351G>T (p.Arg4784Leu)
c.14390G>T (p.Arg4797Leu)
c.6540G>T
c.14369G>T (p.Arg4790Leu)
c.14318G>T (p.Arg4773Leu)
n.880G>T
c.14423G>T (p.Arg4808Leu)
c.14420G>T (p.Arg4807Leu)
c.14399G>T (p.Arg4800Leu)
c.14393G>T (p.Arg4798Leu)
c.14387G>T (p.Arg4796Leu)
c.14363G>T (p.Arg4788Leu)
c.14186G>T (p.Arg4729Leu)
c.14330G>T (p.Arg4777Leu)
c.14402G>T (p.Arg4801Leu)
 ClinVar
1g.237808972A>CCA424051733RYR2c.*5462A>C (n.*5462A>C)
c.14352A>C (p.Arg4784=)
c.14391A>C (p.Arg4797=)
c.6541A>C
c.14370A>C (p.Arg4790=)
c.14319A>C (p.Arg4773=)
n.881A>C
c.14424A>C (p.Arg4808=)
c.14421A>C (p.Arg4807=)
c.14400A>C (p.Arg4800=)
c.14394A>C (p.Arg4798=)
c.14388A>C (p.Arg4796=)
c.14364A>C (p.Arg4788=)
c.14187A>C (p.Arg4729=)
c.14331A>C (p.Arg4777=)
c.14403A>C (p.Arg4801=)
1g.237808972A>GCA424051734RYR2c.*5462A>G (n.*5462A>G)
c.14352A>G (p.Arg4784=)
c.14391A>G (p.Arg4797=)
c.6541A>G
c.14370A>G (p.Arg4790=)
c.14319A>G (p.Arg4773=)
n.881A>G
c.14424A>G (p.Arg4808=)
c.14421A>G (p.Arg4807=)
c.14400A>G (p.Arg4800=)
c.14394A>G (p.Arg4798=)
c.14388A>G (p.Arg4796=)
c.14364A>G (p.Arg4788=)
c.14187A>G (p.Arg4729=)
c.14331A>G (p.Arg4777=)
c.14403A>G (p.Arg4801=)
1g.237808972A>TCA424051735RYR2c.*5462A>T (n.*5462A>T)
c.14352A>T (p.Arg4784=)
c.14391A>T (p.Arg4797=)
c.6541A>T
c.14370A>T (p.Arg4790=)
c.14319A>T (p.Arg4773=)
n.881A>T
c.14424A>T (p.Arg4808=)
c.14421A>T (p.Arg4807=)
c.14400A>T (p.Arg4800=)
c.14394A>T (p.Arg4798=)
c.14388A>T (p.Arg4796=)
c.14364A>T (p.Arg4788=)
c.14187A>T (p.Arg4729=)
c.14331A>T (p.Arg4777=)
c.14403A>T (p.Arg4801=)
1g.237808973A>CCA345424308RYR2c.*5463A>C (n.*5463A>C)
c.14353A>C (p.Lys4785Gln)
c.14392A>C (p.Lys4798Gln)
c.6542A>C
c.14371A>C (p.Lys4791Gln)
c.14320A>C (p.Lys4774Gln)
n.882A>C
c.14425A>C (p.Lys4809Gln)
c.14422A>C (p.Lys4808Gln)
c.14401A>C (p.Lys4801Gln)
c.14395A>C (p.Lys4799Gln)
c.14389A>C (p.Lys4797Gln)
c.14365A>C (p.Lys4789Gln)
c.14188A>C (p.Lys4730Gln)
c.14332A>C (p.Lys4778Gln)
c.14404A>C (p.Lys4802Gln)
1g.237808973A>GCA345424309RYR2c.*5463A>G (n.*5463A>G)
c.14353A>G (p.Lys4785Glu)
c.14392A>G (p.Lys4798Glu)
c.6542A>G
c.14371A>G (p.Lys4791Glu)
c.14320A>G (p.Lys4774Glu)
n.882A>G
c.14425A>G (p.Lys4809Glu)
c.14422A>G (p.Lys4808Glu)
c.14401A>G (p.Lys4801Glu)
c.14395A>G (p.Lys4799Glu)
c.14389A>G (p.Lys4797Glu)
c.14365A>G (p.Lys4789Glu)
c.14188A>G (p.Lys4730Glu)
c.14332A>G (p.Lys4778Glu)
c.14404A>G (p.Lys4802Glu)
1g.237808973A>TCA345424311RYR2c.*5463A>T (n.*5463A>T)
c.14353A>T (p.Lys4785Ter)
c.14392A>T (p.Lys4798Ter)
c.6542A>T
c.14371A>T (p.Lys4791Ter)
c.14320A>T (p.Lys4774Ter)
n.882A>T
c.14425A>T (p.Lys4809Ter)
c.14422A>T (p.Lys4808Ter)
c.14401A>T (p.Lys4801Ter)
c.14395A>T (p.Lys4799Ter)
c.14389A>T (p.Lys4797Ter)
c.14365A>T (p.Lys4789Ter)
c.14188A>T (p.Lys4730Ter)
c.14332A>T (p.Lys4778Ter)
c.14404A>T (p.Lys4802Ter)
1g.237808974A=CA2487493396RYR2c.*5464A= (n.*5464A=)
c.14354A= (p.Lys4785=)
c.14393A= (p.Lys4798=)
c.6543A=
c.14372A= (p.Lys4791=)
c.14321A= (p.Lys4774=)
n.883A=
c.14426A= (p.Lys4809=)
c.14423A= (p.Lys4808=)
c.14402A= (p.Lys4801=)
c.14396A= (p.Lys4799=)
c.14390A= (p.Lys4797=)
c.14366A= (p.Lys4789=)
c.14189A= (p.Lys4730=)
c.14333A= (p.Lys4778=)
c.14405A= (p.Lys4802=)
1g.237808974A>CCA345424313RYR2c.*5464A>C (n.*5464A>C)
c.14354A>C (p.Lys4785Thr)
c.14393A>C (p.Lys4798Thr)
c.6543A>C
c.14372A>C (p.Lys4791Thr)
c.14321A>C (p.Lys4774Thr)
n.883A>C
c.14426A>C (p.Lys4809Thr)
c.14423A>C (p.Lys4808Thr)
c.14402A>C (p.Lys4801Thr)
c.14396A>C (p.Lys4799Thr)
c.14390A>C (p.Lys4797Thr)
c.14366A>C (p.Lys4789Thr)
c.14189A>C (p.Lys4730Thr)
c.14333A>C (p.Lys4778Thr)
c.14405A>C (p.Lys4802Thr)
 ClinVar
1g.237808974A>GCA345424315RYR2c.*5464A>G (n.*5464A>G)
c.14354A>G (p.Lys4785Arg)
c.14393A>G (p.Lys4798Arg)
c.6543A>G
c.14372A>G (p.Lys4791Arg)
c.14321A>G (p.Lys4774Arg)
n.883A>G
c.14426A>G (p.Lys4809Arg)
c.14423A>G (p.Lys4808Arg)
c.14402A>G (p.Lys4801Arg)
c.14396A>G (p.Lys4799Arg)
c.14390A>G (p.Lys4797Arg)
c.14366A>G (p.Lys4789Arg)
c.14189A>G (p.Lys4730Arg)
c.14333A>G (p.Lys4778Arg)
c.14405A>G (p.Lys4802Arg)
1g.237808974A>TCA16603655RYR2c.*5464A>T (n.*5464A>T)
c.14354A>T (p.Lys4785Ile)
c.14393A>T (p.Lys4798Ile)
c.6543A>T
c.14372A>T (p.Lys4791Ile)
c.14321A>T (p.Lys4774Ile)
n.883A>T
c.14426A>T (p.Lys4809Ile)
c.14423A>T (p.Lys4808Ile)
c.14402A>T (p.Lys4801Ile)
c.14396A>T (p.Lys4799Ile)
c.14390A>T (p.Lys4797Ile)
c.14366A>T (p.Lys4789Ile)
c.14189A>T (p.Lys4730Ile)
c.14333A>T (p.Lys4778Ile)
c.14405A>T (p.Lys4802Ile)
 ClinVar dbSNP
1g.237808975A>CCA345424317RYR2c.*5465A>C (n.*5465A>C)
c.14355A>C (p.Lys4785Asn)
c.14394A>C (p.Lys4798Asn)
c.6544A>C
c.14373A>C (p.Lys4791Asn)
c.14322A>C (p.Lys4774Asn)
n.884A>C
c.14427A>C (p.Lys4809Asn)
c.14424A>C (p.Lys4808Asn)
c.14403A>C (p.Lys4801Asn)
c.14397A>C (p.Lys4799Asn)
c.14391A>C (p.Lys4797Asn)
c.14367A>C (p.Lys4789Asn)
c.14190A>C (p.Lys4730Asn)
c.14334A>C (p.Lys4778Asn)
c.14406A>C (p.Lys4802Asn)
 COSMIC COSMIC
1g.237808975A>GCA424051736RYR2c.*5465A>G (n.*5465A>G)
c.14355A>G (p.Lys4785=)
c.14394A>G (p.Lys4798=)
c.6544A>G
c.14373A>G (p.Lys4791=)
c.14322A>G (p.Lys4774=)
n.884A>G
c.14427A>G (p.Lys4809=)
c.14424A>G (p.Lys4808=)
c.14403A>G (p.Lys4801=)
c.14397A>G (p.Lys4799=)
c.14391A>G (p.Lys4797=)
c.14367A>G (p.Lys4789=)
c.14190A>G (p.Lys4730=)
c.14334A>G (p.Lys4778=)
c.14406A>G (p.Lys4802=)
 gnomAD v4
1g.237808975A>TCA345424319RYR2c.*5465A>T (n.*5465A>T)
c.14355A>T (p.Lys4785Asn)
c.14394A>T (p.Lys4798Asn)
c.6544A>T
c.14373A>T (p.Lys4791Asn)
c.14322A>T (p.Lys4774Asn)
n.884A>T
c.14427A>T (p.Lys4809Asn)
c.14424A>T (p.Lys4808Asn)
c.14403A>T (p.Lys4801Asn)
c.14397A>T (p.Lys4799Asn)
c.14391A>T (p.Lys4797Asn)
c.14367A>T (p.Lys4789Asn)
c.14190A>T (p.Lys4730Asn)
c.14334A>T (p.Lys4778Asn)
c.14406A>T (p.Lys4802Asn)
1g.237808976T>ACA345424326RYR2c.*5466T>A (n.*5466T>A)
c.14356T>A (p.Phe4786Ile)
c.14395T>A (p.Phe4799Ile)
c.6545T>A
c.14374T>A (p.Phe4792Ile)
c.14323T>A (p.Phe4775Ile)
n.885T>A
c.14428T>A (p.Phe4810Ile)
c.14425T>A (p.Phe4809Ile)
c.14404T>A (p.Phe4802Ile)
c.14398T>A (p.Phe4800Ile)
c.14392T>A (p.Phe4798Ile)
c.14368T>A (p.Phe4790Ile)
c.14191T>A (p.Phe4731Ile)
c.14335T>A (p.Phe4779Ile)
c.14407T>A (p.Phe4803Ile)
1g.237808976T>CCA345424328RYR2c.*5466T>C (n.*5466T>C)
c.14356T>C (p.Phe4786Leu)
c.14395T>C (p.Phe4799Leu)
c.6545T>C
c.14374T>C (p.Phe4792Leu)
c.14323T>C (p.Phe4775Leu)
n.885T>C
c.14428T>C (p.Phe4810Leu)
c.14425T>C (p.Phe4809Leu)
c.14404T>C (p.Phe4802Leu)
c.14398T>C (p.Phe4800Leu)
c.14392T>C (p.Phe4798Leu)
c.14368T>C (p.Phe4790Leu)
c.14191T>C (p.Phe4731Leu)
c.14335T>C (p.Phe4779Leu)
c.14407T>C (p.Phe4803Leu)
 gnomAD v4
1g.237808976T>GCA345424330RYR2c.*5466T>G (n.*5466T>G)
c.14356T>G (p.Phe4786Val)
c.14395T>G (p.Phe4799Val)
c.6545T>G
c.14374T>G (p.Phe4792Val)
c.14323T>G (p.Phe4775Val)
n.885T>G
c.14428T>G (p.Phe4810Val)
c.14425T>G (p.Phe4809Val)
c.14404T>G (p.Phe4802Val)
c.14398T>G (p.Phe4800Val)
c.14392T>G (p.Phe4798Val)
c.14368T>G (p.Phe4790Val)
c.14191T>G (p.Phe4731Val)
c.14335T>G (p.Phe4779Val)
c.14407T>G (p.Phe4803Val)
 dbSNP gnomAD v3 gnomAD v4
1g.237808977T>ACA345424332RYR2c.*5467T>A (n.*5467T>A)
c.14357T>A (p.Phe4786Tyr)
c.14396T>A (p.Phe4799Tyr)
c.6546T>A
c.14375T>A (p.Phe4792Tyr)
c.14324T>A (p.Phe4775Tyr)
n.886T>A
c.14429T>A (p.Phe4810Tyr)
c.14426T>A (p.Phe4809Tyr)
c.14405T>A (p.Phe4802Tyr)
c.14399T>A (p.Phe4800Tyr)
c.14393T>A (p.Phe4798Tyr)
c.14369T>A (p.Phe4790Tyr)
c.14192T>A (p.Phe4731Tyr)
c.14336T>A (p.Phe4779Tyr)
c.14408T>A (p.Phe4803Tyr)
1g.237808977T>CCA345424333RYR2c.*5467T>C (n.*5467T>C)
c.14357T>C (p.Phe4786Ser)
c.14396T>C (p.Phe4799Ser)
c.6546T>C
c.14375T>C (p.Phe4792Ser)
c.14324T>C (p.Phe4775Ser)
n.886T>C
c.14429T>C (p.Phe4810Ser)
c.14426T>C (p.Phe4809Ser)
c.14405T>C (p.Phe4802Ser)
c.14399T>C (p.Phe4800Ser)
c.14393T>C (p.Phe4798Ser)
c.14369T>C (p.Phe4790Ser)
c.14192T>C (p.Phe4731Ser)
c.14336T>C (p.Phe4779Ser)
c.14408T>C (p.Phe4803Ser)
 gnomAD v4
1g.237808977T>GCA345424334RYR2c.*5467T>G (n.*5467T>G)
c.14357T>G (p.Phe4786Cys)
c.14396T>G (p.Phe4799Cys)
c.6546T>G
c.14375T>G (p.Phe4792Cys)
c.14324T>G (p.Phe4775Cys)
n.886T>G
c.14429T>G (p.Phe4810Cys)
c.14426T>G (p.Phe4809Cys)
c.14405T>G (p.Phe4802Cys)
c.14399T>G (p.Phe4800Cys)
c.14393T>G (p.Phe4798Cys)
c.14369T>G (p.Phe4790Cys)
c.14192T>G (p.Phe4731Cys)
c.14336T>G (p.Phe4779Cys)
c.14408T>G (p.Phe4803Cys)
1g.237808978C>ACA345424335RYR2c.*5468C>A (n.*5468C>A)
c.14358C>A (p.Phe4786Leu)
c.14397C>A (p.Phe4799Leu)
c.6547C>A
c.14376C>A (p.Phe4792Leu)
c.14325C>A (p.Phe4775Leu)
n.887C>A
c.14430C>A (p.Phe4810Leu)
c.14427C>A (p.Phe4809Leu)
c.14406C>A (p.Phe4802Leu)
c.14400C>A (p.Phe4800Leu)
c.14394C>A (p.Phe4798Leu)
c.14370C>A (p.Phe4790Leu)
c.14193C>A (p.Phe4731Leu)
c.14337C>A (p.Phe4779Leu)
c.14409C>A (p.Phe4803Leu)
1g.237808978C>GCA345424337RYR2c.*5468C>G (n.*5468C>G)
c.14358C>G (p.Phe4786Leu)
c.14397C>G (p.Phe4799Leu)
c.6547C>G
c.14376C>G (p.Phe4792Leu)
c.14325C>G (p.Phe4775Leu)
n.887C>G
c.14430C>G (p.Phe4810Leu)
c.14427C>G (p.Phe4809Leu)
c.14406C>G (p.Phe4802Leu)
c.14400C>G (p.Phe4800Leu)
c.14394C>G (p.Phe4798Leu)
c.14370C>G (p.Phe4790Leu)
c.14193C>G (p.Phe4731Leu)
c.14337C>G (p.Phe4779Leu)
c.14409C>G (p.Phe4803Leu)
1g.237808978C>TCA424051737RYR2c.*5468C>T (n.*5468C>T)
c.14358C>T (p.Phe4786=)
c.14397C>T (p.Phe4799=)
c.6547C>T
c.14376C>T (p.Phe4792=)
c.14325C>T (p.Phe4775=)
n.887C>T
c.14430C>T (p.Phe4810=)
c.14427C>T (p.Phe4809=)
c.14406C>T (p.Phe4802=)
c.14400C>T (p.Phe4800=)
c.14394C>T (p.Phe4798=)
c.14370C>T (p.Phe4790=)
c.14193C>T (p.Phe4731=)
c.14337C>T (p.Phe4779=)
c.14409C>T (p.Phe4803=)
 COSMIC COSMIC
1g.237808979T>ACA345424339RYR2c.*5469T>A (n.*5469T>A)
c.14359T>A (p.Tyr4787Asn)
c.14398T>A (p.Tyr4800Asn)
c.6548T>A
c.14377T>A (p.Tyr4793Asn)
c.14326T>A (p.Tyr4776Asn)
n.888T>A
c.14431T>A (p.Tyr4811Asn)
c.14428T>A (p.Tyr4810Asn)
c.14407T>A (p.Tyr4803Asn)
c.14401T>A (p.Tyr4801Asn)
c.14395T>A (p.Tyr4799Asn)
c.14371T>A (p.Tyr4791Asn)
c.14194T>A (p.Tyr4732Asn)
c.14338T>A (p.Tyr4780Asn)
c.14410T>A (p.Tyr4804Asn)
1g.237808979T>CCA345424342RYR2c.*5469T>C (n.*5469T>C)
c.14359T>C (p.Tyr4787His)
c.14398T>C (p.Tyr4800His)
c.6548T>C
c.14377T>C (p.Tyr4793His)
c.14326T>C (p.Tyr4776His)
n.888T>C
c.14431T>C (p.Tyr4811His)
c.14428T>C (p.Tyr4810His)
c.14407T>C (p.Tyr4803His)
c.14401T>C (p.Tyr4801His)
c.14395T>C (p.Tyr4799His)
c.14371T>C (p.Tyr4791His)
c.14194T>C (p.Tyr4732His)
c.14338T>C (p.Tyr4780His)
c.14410T>C (p.Tyr4804His)
1g.237808979T>GCA068243RYR2c.*5469T>G (n.*5469T>G)
c.14359T>G (p.Tyr4787Asp)
c.14398T>G (p.Tyr4800Asp)
c.6548T>G
c.14377T>G (p.Tyr4793Asp)
c.14326T>G (p.Tyr4776Asp)
n.888T>G
c.14431T>G (p.Tyr4811Asp)
c.14428T>G (p.Tyr4810Asp)
c.14407T>G (p.Tyr4803Asp)
c.14401T>G (p.Tyr4801Asp)
c.14395T>G (p.Tyr4799Asp)
c.14371T>G (p.Tyr4791Asp)
c.14194T>G (p.Tyr4732Asp)
c.14338T>G (p.Tyr4780Asp)
c.14410T>G (p.Tyr4804Asp)
1g.237808980A>CCA345424344RYR2c.*5470A>C (n.*5470A>C)
c.14360A>C (p.Tyr4787Ser)
c.14399A>C (p.Tyr4800Ser)
c.6549A>C
c.14378A>C (p.Tyr4793Ser)
c.14327A>C (p.Tyr4776Ser)
n.889A>C
c.14432A>C (p.Tyr4811Ser)
c.14429A>C (p.Tyr4810Ser)
c.14408A>C (p.Tyr4803Ser)
c.14402A>C (p.Tyr4801Ser)
c.14396A>C (p.Tyr4799Ser)
c.14372A>C (p.Tyr4791Ser)
c.14195A>C (p.Tyr4732Ser)
c.14339A>C (p.Tyr4780Ser)
c.14411A>C (p.Tyr4804Ser)
1g.237808980A>GCA345424346RYR2c.*5470A>G (n.*5470A>G)
c.14360A>G (p.Tyr4787Cys)
c.14399A>G (p.Tyr4800Cys)
c.6549A>G
c.14378A>G (p.Tyr4793Cys)
c.14327A>G (p.Tyr4776Cys)
n.889A>G
c.14432A>G (p.Tyr4811Cys)
c.14429A>G (p.Tyr4810Cys)
c.14408A>G (p.Tyr4803Cys)
c.14402A>G (p.Tyr4801Cys)
c.14396A>G (p.Tyr4799Cys)
c.14372A>G (p.Tyr4791Cys)
c.14195A>G (p.Tyr4732Cys)
c.14339A>G (p.Tyr4780Cys)
c.14411A>G (p.Tyr4804Cys)
1g.237808980A>TCA345424348RYR2c.*5470A>T (n.*5470A>T)
c.14360A>T (p.Tyr4787Phe)
c.14399A>T (p.Tyr4800Phe)
c.6549A>T
c.14378A>T (p.Tyr4793Phe)
c.14327A>T (p.Tyr4776Phe)
n.889A>T
c.14432A>T (p.Tyr4811Phe)
c.14429A>T (p.Tyr4810Phe)
c.14408A>T (p.Tyr4803Phe)
c.14402A>T (p.Tyr4801Phe)
c.14396A>T (p.Tyr4799Phe)
c.14372A>T (p.Tyr4791Phe)
c.14195A>T (p.Tyr4732Phe)
c.14339A>T (p.Tyr4780Phe)
c.14411A>T (p.Tyr4804Phe)
1g.237808981C>ACA345424350RYR2c.*5471C>A (n.*5471C>A)
c.14361C>A (p.Tyr4787Ter)
c.14400C>A (p.Tyr4800Ter)
c.6550C>A
c.14379C>A (p.Tyr4793Ter)
c.14328C>A (p.Tyr4776Ter)
n.890C>A
c.14433C>A (p.Tyr4811Ter)
c.14430C>A (p.Tyr4810Ter)
c.14409C>A (p.Tyr4803Ter)
c.14403C>A (p.Tyr4801Ter)
c.14397C>A (p.Tyr4799Ter)
c.14373C>A (p.Tyr4791Ter)
c.14196C>A (p.Tyr4732Ter)
c.14340C>A (p.Tyr4780Ter)
c.14412C>A (p.Tyr4804Ter)
1g.237808981C>GCA345424352RYR2c.*5471C>G (n.*5471C>G)
c.14361C>G (p.Tyr4787Ter)
c.14400C>G (p.Tyr4800Ter)
c.6550C>G
c.14379C>G (p.Tyr4793Ter)
c.14328C>G (p.Tyr4776Ter)
n.890C>G
c.14433C>G (p.Tyr4811Ter)
c.14430C>G (p.Tyr4810Ter)
c.14409C>G (p.Tyr4803Ter)
c.14403C>G (p.Tyr4801Ter)
c.14397C>G (p.Tyr4799Ter)
c.14373C>G (p.Tyr4791Ter)
c.14196C>G (p.Tyr4732Ter)
c.14340C>G (p.Tyr4780Ter)
c.14412C>G (p.Tyr4804Ter)
1g.237808981C>TCA068314RYR2c.*5471C>T (n.*5471C>T)
c.14361C>T (p.Tyr4787=)
c.14400C>T (p.Tyr4800=)
c.6550C>T
c.14379C>T (p.Tyr4793=)
c.14328C>T (p.Tyr4776=)
n.890C>T
c.14433C>T (p.Tyr4811=)
c.14430C>T (p.Tyr4810=)
c.14409C>T (p.Tyr4803=)
c.14403C>T (p.Tyr4801=)
c.14397C>T (p.Tyr4799=)
c.14373C>T (p.Tyr4791=)
c.14196C>T (p.Tyr4732=)
c.14340C>T (p.Tyr4780=)
c.14412C>T (p.Tyr4804=)
1g.237808982A>CCA345424355RYR2c.*5472A>C (n.*5472A>C)
c.14362A>C (p.Asn4788His)
c.14401A>C (p.Asn4801His)
c.6551A>C
c.14380A>C (p.Asn4794His)
c.14329A>C (p.Asn4777His)
n.891A>C
c.14434A>C (p.Asn4812His)
c.14431A>C (p.Asn4811His)
c.14410A>C (p.Asn4804His)
c.14404A>C (p.Asn4802His)
c.14398A>C (p.Asn4800His)
c.14374A>C (p.Asn4792His)
c.14197A>C (p.Asn4733His)
c.14341A>C (p.Asn4781His)
c.14413A>C (p.Asn4805His)
 gnomAD v4
1g.237808982A>GCA345424356RYR2c.*5472A>G (n.*5472A>G)
c.14362A>G (p.Asn4788Asp)
c.14401A>G (p.Asn4801Asp)
c.6551A>G
c.14380A>G (p.Asn4794Asp)
c.14329A>G (p.Asn4777Asp)
n.891A>G
c.14434A>G (p.Asn4812Asp)
c.14431A>G (p.Asn4811Asp)
c.14410A>G (p.Asn4804Asp)
c.14404A>G (p.Asn4802Asp)
c.14398A>G (p.Asn4800Asp)
c.14374A>G (p.Asn4792Asp)
c.14197A>G (p.Asn4733Asp)
c.14341A>G (p.Asn4781Asp)
c.14413A>G (p.Asn4805Asp)
1g.237808982A>TCA345424358RYR2c.*5472A>T (n.*5472A>T)
c.14362A>T (p.Asn4788Tyr)
c.14401A>T (p.Asn4801Tyr)
c.6551A>T
c.14380A>T (p.Asn4794Tyr)
c.14329A>T (p.Asn4777Tyr)
n.891A>T
c.14434A>T (p.Asn4812Tyr)
c.14431A>T (p.Asn4811Tyr)
c.14410A>T (p.Asn4804Tyr)
c.14404A>T (p.Asn4802Tyr)
c.14398A>T (p.Asn4800Tyr)
c.14374A>T (p.Asn4792Tyr)
c.14197A>T (p.Asn4733Tyr)
c.14341A>T (p.Asn4781Tyr)
c.14413A>T (p.Asn4805Tyr)
1g.237808983A>CCA345424361RYR2c.*5473A>C (n.*5473A>C)
c.14363A>C (p.Asn4788Thr)
c.14402A>C (p.Asn4801Thr)
c.6552A>C
c.14381A>C (p.Asn4794Thr)
c.14330A>C (p.Asn4777Thr)
n.892A>C
c.14435A>C (p.Asn4812Thr)
c.14432A>C (p.Asn4811Thr)
c.14411A>C (p.Asn4804Thr)
c.14405A>C (p.Asn4802Thr)
c.14399A>C (p.Asn4800Thr)
c.14375A>C (p.Asn4792Thr)
c.14198A>C (p.Asn4733Thr)
c.14342A>C (p.Asn4781Thr)
c.14414A>C (p.Asn4805Thr)
1g.237808983A>GCA345424362RYR2c.*5473A>G (n.*5473A>G)
c.14363A>G (p.Asn4788Ser)
c.14402A>G (p.Asn4801Ser)
c.6552A>G
c.14381A>G (p.Asn4794Ser)
c.14330A>G (p.Asn4777Ser)
n.892A>G
c.14435A>G (p.Asn4812Ser)
c.14432A>G (p.Asn4811Ser)
c.14411A>G (p.Asn4804Ser)
c.14405A>G (p.Asn4802Ser)
c.14399A>G (p.Asn4800Ser)
c.14375A>G (p.Asn4792Ser)
c.14198A>G (p.Asn4733Ser)
c.14342A>G (p.Asn4781Ser)
c.14414A>G (p.Asn4805Ser)
 gnomAD v4
1g.237808983A>TCA345424364RYR2c.*5473A>T (n.*5473A>T)
c.14363A>T (p.Asn4788Ile)
c.14402A>T (p.Asn4801Ile)
c.6552A>T
c.14381A>T (p.Asn4794Ile)
c.14330A>T (p.Asn4777Ile)
n.892A>T
c.14435A>T (p.Asn4812Ile)
c.14432A>T (p.Asn4811Ile)
c.14411A>T (p.Asn4804Ile)
c.14405A>T (p.Asn4802Ile)
c.14399A>T (p.Asn4800Ile)
c.14375A>T (p.Asn4792Ile)
c.14198A>T (p.Asn4733Ile)
c.14342A>T (p.Asn4781Ile)
c.14414A>T (p.Asn4805Ile)
1g.237808984T>ACA345424366RYR2c.*5474T>A (n.*5474T>A)
c.14364T>A (p.Asn4788Lys)
c.14403T>A (p.Asn4801Lys)
c.6553T>A
c.14382T>A (p.Asn4794Lys)
c.14331T>A (p.Asn4777Lys)
n.893T>A
c.14436T>A (p.Asn4812Lys)
c.14433T>A (p.Asn4811Lys)
c.14412T>A (p.Asn4804Lys)
c.14406T>A (p.Asn4802Lys)
c.14400T>A (p.Asn4800Lys)
c.14376T>A (p.Asn4792Lys)
c.14199T>A (p.Asn4733Lys)
c.14343T>A (p.Asn4781Lys)
c.14415T>A (p.Asn4805Lys)
1g.237808984T>CCA068251RYR2c.*5474T>C (n.*5474T>C)
c.14364T>C (p.Asn4788=)
c.14403T>C (p.Asn4801=)
c.6553T>C
c.14382T>C (p.Asn4794=)
c.14331T>C (p.Asn4777=)
n.893T>C
c.14436T>C (p.Asn4812=)
c.14433T>C (p.Asn4811=)
c.14412T>C (p.Asn4804=)
c.14406T>C (p.Asn4802=)
c.14400T>C (p.Asn4800=)
c.14376T>C (p.Asn4792=)
c.14199T>C (p.Asn4733=)
c.14343T>C (p.Asn4781=)
c.14415T>C (p.Asn4805=)
1g.237808984T>GCA345424368RYR2c.*5474T>G (n.*5474T>G)
c.14364T>G (p.Asn4788Lys)
c.14403T>G (p.Asn4801Lys)
c.6553T>G
c.14382T>G (p.Asn4794Lys)
c.14331T>G (p.Asn4777Lys)
n.893T>G
c.14436T>G (p.Asn4812Lys)
c.14433T>G (p.Asn4811Lys)
c.14412T>G (p.Asn4804Lys)
c.14406T>G (p.Asn4802Lys)
c.14400T>G (p.Asn4800Lys)
c.14376T>G (p.Asn4792Lys)
c.14199T>G (p.Asn4733Lys)
c.14343T>G (p.Asn4781Lys)
c.14415T>G (p.Asn4805Lys)
1g.237808985A=CA2487493397RYR2c.*5475A= (n.*5475A=)
c.14365A= (p.Lys4789=)
c.14404A= (p.Lys4802=)
c.6554A=
c.14383A= (p.Lys4795=)
c.14332A= (p.Lys4778=)
n.894A=
c.14437A= (p.Lys4813=)
c.14434A= (p.Lys4812=)
c.14413A= (p.Lys4805=)
c.14407A= (p.Lys4803=)
c.14401A= (p.Lys4801=)
c.14377A= (p.Lys4793=)
c.14200A= (p.Lys4734=)
c.14344A= (p.Lys4782=)
c.14416A= (p.Lys4806=)
1g.237808985A>CCA345424372RYR2c.*5475A>C (n.*5475A>C)
c.14365A>C (p.Lys4789Gln)
c.14404A>C (p.Lys4802Gln)
c.6554A>C
c.14383A>C (p.Lys4795Gln)
c.14332A>C (p.Lys4778Gln)
n.894A>C
c.14437A>C (p.Lys4813Gln)
c.14434A>C (p.Lys4812Gln)
c.14413A>C (p.Lys4805Gln)
c.14407A>C (p.Lys4803Gln)
c.14401A>C (p.Lys4801Gln)
c.14377A>C (p.Lys4793Gln)
c.14200A>C (p.Lys4734Gln)
c.14344A>C (p.Lys4782Gln)
c.14416A>C (p.Lys4806Gln)
1g.237808985A>GCA345424370RYR2c.*5475A>G (n.*5475A>G)
c.14365A>G (p.Lys4789Glu)
c.14404A>G (p.Lys4802Glu)
c.6554A>G
c.14383A>G (p.Lys4795Glu)
c.14332A>G (p.Lys4778Glu)
n.894A>G
c.14437A>G (p.Lys4813Glu)
c.14434A>G (p.Lys4812Glu)
c.14413A>G (p.Lys4805Glu)
c.14407A>G (p.Lys4803Glu)
c.14401A>G (p.Lys4801Glu)
c.14377A>G (p.Lys4793Glu)
c.14200A>G (p.Lys4734Glu)
c.14344A>G (p.Lys4782Glu)
c.14416A>G (p.Lys4806Glu)
 ClinVar dbSNP COSMIC COSMIC
1g.237808985A>TCA345424369RYR2c.*5475A>T (n.*5475A>T)
c.14365A>T (p.Lys4789Ter)
c.14404A>T (p.Lys4802Ter)
c.6554A>T
c.14383A>T (p.Lys4795Ter)
c.14332A>T (p.Lys4778Ter)
n.894A>T
c.14437A>T (p.Lys4813Ter)
c.14434A>T (p.Lys4812Ter)
c.14413A>T (p.Lys4805Ter)
c.14407A>T (p.Lys4803Ter)
c.14401A>T (p.Lys4801Ter)
c.14377A>T (p.Lys4793Ter)
c.14200A>T (p.Lys4734Ter)
c.14344A>T (p.Lys4782Ter)
c.14416A>T (p.Lys4806Ter)
1g.237808986A=CA2487493398RYR2c.*5476A= (n.*5476A=)
c.14366A= (p.Lys4789=)
c.14405A= (p.Lys4802=)
c.6555A=
c.14384A= (p.Lys4795=)
c.14333A= (p.Lys4778=)
n.895A=
c.14438A= (p.Lys4813=)
c.14435A= (p.Lys4812=)
c.14414A= (p.Lys4805=)
c.14408A= (p.Lys4803=)
c.14402A= (p.Lys4801=)
c.14378A= (p.Lys4793=)
c.14201A= (p.Lys4734=)
c.14345A= (p.Lys4782=)
c.14417A= (p.Lys4806=)
1g.237808986A>CCA345424373RYR2c.*5476A>C (n.*5476A>C)
c.14366A>C (p.Lys4789Thr)
c.14405A>C (p.Lys4802Thr)
c.6555A>C
c.14384A>C (p.Lys4795Thr)
c.14333A>C (p.Lys4778Thr)
n.895A>C
c.14438A>C (p.Lys4813Thr)
c.14435A>C (p.Lys4812Thr)
c.14414A>C (p.Lys4805Thr)
c.14408A>C (p.Lys4803Thr)
c.14402A>C (p.Lys4801Thr)
c.14378A>C (p.Lys4793Thr)
c.14201A>C (p.Lys4734Thr)
c.14345A>C (p.Lys4782Thr)
c.14417A>C (p.Lys4806Thr)
1g.237808986A>GCA345424375RYR2c.*5476A>G (n.*5476A>G)
c.14366A>G (p.Lys4789Arg)
c.14405A>G (p.Lys4802Arg)
c.6555A>G
c.14384A>G (p.Lys4795Arg)
c.14333A>G (p.Lys4778Arg)
n.895A>G
c.14438A>G (p.Lys4813Arg)
c.14435A>G (p.Lys4812Arg)
c.14414A>G (p.Lys4805Arg)
c.14408A>G (p.Lys4803Arg)
c.14402A>G (p.Lys4801Arg)
c.14378A>G (p.Lys4793Arg)
c.14201A>G (p.Lys4734Arg)
c.14345A>G (p.Lys4782Arg)
c.14417A>G (p.Lys4806Arg)
 dbSNP
1g.237808986A>TCA345424376RYR2c.*5476A>T (n.*5476A>T)
c.14366A>T (p.Lys4789Ile)
c.14405A>T (p.Lys4802Ile)
c.6555A>T
c.14384A>T (p.Lys4795Ile)
c.14333A>T (p.Lys4778Ile)
n.895A>T
c.14438A>T (p.Lys4813Ile)
c.14435A>T (p.Lys4812Ile)
c.14414A>T (p.Lys4805Ile)
c.14408A>T (p.Lys4803Ile)
c.14402A>T (p.Lys4801Ile)
c.14378A>T (p.Lys4793Ile)
c.14201A>T (p.Lys4734Ile)
c.14345A>T (p.Lys4782Ile)
c.14417A>T (p.Lys4806Ile)
1g.237808987A=CA2487493399RYR2c.*5477A= (n.*5477A=)
c.14367A= (p.Lys4789=)
c.14406A= (p.Lys4802=)
c.6556A=
c.14385A= (p.Lys4795=)
c.14334A= (p.Lys4778=)
n.896A=
c.14439A= (p.Lys4813=)
c.14436A= (p.Lys4812=)
c.14415A= (p.Lys4805=)
c.14409A= (p.Lys4803=)
c.14403A= (p.Lys4801=)
c.14379A= (p.Lys4793=)
c.14202A= (p.Lys4734=)
c.14346A= (p.Lys4782=)
c.14418A= (p.Lys4806=)
1g.237808987A>CCA345424378RYR2c.*5477A>C (n.*5477A>C)
c.14367A>C (p.Lys4789Asn)
c.14406A>C (p.Lys4802Asn)
c.6556A>C
c.14385A>C (p.Lys4795Asn)
c.14334A>C (p.Lys4778Asn)
n.896A>C
c.14439A>C (p.Lys4813Asn)
c.14436A>C (p.Lys4812Asn)
c.14415A>C (p.Lys4805Asn)
c.14409A>C (p.Lys4803Asn)
c.14403A>C (p.Lys4801Asn)
c.14379A>C (p.Lys4793Asn)
c.14202A>C (p.Lys4734Asn)
c.14346A>C (p.Lys4782Asn)
c.14418A>C (p.Lys4806Asn)
1g.237808987A>GCA424051738RYR2c.*5477A>G (n.*5477A>G)
c.14367A>G (p.Lys4789=)
c.14406A>G (p.Lys4802=)
c.6556A>G
c.14385A>G (p.Lys4795=)
c.14334A>G (p.Lys4778=)
n.896A>G
c.14439A>G (p.Lys4813=)
c.14436A>G (p.Lys4812=)
c.14415A>G (p.Lys4805=)
c.14409A>G (p.Lys4803=)
c.14403A>G (p.Lys4801=)
c.14379A>G (p.Lys4793=)
c.14202A>G (p.Lys4734=)
c.14346A>G (p.Lys4782=)
c.14418A>G (p.Lys4806=)
 dbSNP
1g.237808987A>TCA345424380RYR2c.*5477A>T (n.*5477A>T)
c.14367A>T (p.Lys4789Asn)
c.14406A>T (p.Lys4802Asn)
c.6556A>T
c.14385A>T (p.Lys4795Asn)
c.14334A>T (p.Lys4778Asn)
n.896A>T
c.14439A>T (p.Lys4813Asn)
c.14436A>T (p.Lys4812Asn)
c.14415A>T (p.Lys4805Asn)
c.14409A>T (p.Lys4803Asn)
c.14403A>T (p.Lys4801Asn)
c.14379A>T (p.Lys4793Asn)
c.14202A>T (p.Lys4734Asn)
c.14346A>T (p.Lys4782Asn)
c.14418A>T (p.Lys4806Asn)
1g.237808988A>CCA345424382RYR2c.*5478A>C (n.*5478A>C)
c.14368A>C (p.Ser4790Arg)
c.14407A>C (p.Ser4803Arg)
c.6557A>C
c.14386A>C (p.Ser4796Arg)
c.14335A>C (p.Ser4779Arg)
n.897A>C
c.14440A>C (p.Ser4814Arg)
c.14437A>C (p.Ser4813Arg)
c.14416A>C (p.Ser4806Arg)
c.14410A>C (p.Ser4804Arg)
c.14404A>C (p.Ser4802Arg)
c.14380A>C (p.Ser4794Arg)
c.14203A>C (p.Ser4735Arg)
c.14347A>C (p.Ser4783Arg)
c.14419A>C (p.Ser4807Arg)
1g.237808988A>GCA345424384RYR2c.*5478A>G (n.*5478A>G)
c.14368A>G (p.Ser4790Gly)
c.14407A>G (p.Ser4803Gly)
c.6557A>G
c.14386A>G (p.Ser4796Gly)
c.14335A>G (p.Ser4779Gly)
n.897A>G
c.14440A>G (p.Ser4814Gly)
c.14437A>G (p.Ser4813Gly)
c.14416A>G (p.Ser4806Gly)
c.14410A>G (p.Ser4804Gly)
c.14404A>G (p.Ser4802Gly)
c.14380A>G (p.Ser4794Gly)
c.14203A>G (p.Ser4735Gly)
c.14347A>G (p.Ser4783Gly)
c.14419A>G (p.Ser4807Gly)
1g.237808988A>TCA345424385RYR2c.*5478A>T (n.*5478A>T)
c.14368A>T (p.Ser4790Cys)
c.14407A>T (p.Ser4803Cys)
c.6557A>T
c.14386A>T (p.Ser4796Cys)
c.14335A>T (p.Ser4779Cys)
n.897A>T
c.14440A>T (p.Ser4814Cys)
c.14437A>T (p.Ser4813Cys)
c.14416A>T (p.Ser4806Cys)
c.14410A>T (p.Ser4804Cys)
c.14404A>T (p.Ser4802Cys)
c.14380A>T (p.Ser4794Cys)
c.14203A>T (p.Ser4735Cys)
c.14347A>T (p.Ser4783Cys)
c.14419A>T (p.Ser4807Cys)
1g.237808989G>ACA345424387RYR2c.*5479G>A (n.*5479G>A)
c.14369G>A (p.Ser4790Asn)
c.14408G>A (p.Ser4803Asn)
c.6558G>A
c.14387G>A (p.Ser4796Asn)
c.14336G>A (p.Ser4779Asn)
n.898G>A
c.14441G>A (p.Ser4814Asn)
c.14438G>A (p.Ser4813Asn)
c.14417G>A (p.Ser4806Asn)
c.14411G>A (p.Ser4804Asn)
c.14405G>A (p.Ser4802Asn)
c.14381G>A (p.Ser4794Asn)
c.14204G>A (p.Ser4735Asn)
c.14348G>A (p.Ser4783Asn)
c.14420G>A (p.Ser4807Asn)
 dbSNP gnomAD v4
1g.237808989G>CCA345424388RYR2c.*5479G>C (n.*5479G>C)
c.14369G>C (p.Ser4790Thr)
c.14408G>C (p.Ser4803Thr)
c.6558G>C
c.14387G>C (p.Ser4796Thr)
c.14336G>C (p.Ser4779Thr)
n.898G>C
c.14441G>C (p.Ser4814Thr)
c.14438G>C (p.Ser4813Thr)
c.14417G>C (p.Ser4806Thr)
c.14411G>C (p.Ser4804Thr)
c.14405G>C (p.Ser4802Thr)
c.14381G>C (p.Ser4794Thr)
c.14204G>C (p.Ser4735Thr)
c.14348G>C (p.Ser4783Thr)
c.14420G>C (p.Ser4807Thr)
1g.237808989G=CA2487493400RYR2c.*5479G= (n.*5479G=)
c.14369G= (p.Ser4790=)
c.14408G= (p.Ser4803=)
c.6558G=
c.14387G= (p.Ser4796=)
c.14336G= (p.Ser4779=)
n.898G=
c.14441G= (p.Ser4814=)
c.14438G= (p.Ser4813=)
c.14417G= (p.Ser4806=)
c.14411G= (p.Ser4804=)
c.14405G= (p.Ser4802=)
c.14381G= (p.Ser4794=)
c.14204G= (p.Ser4735=)
c.14348G= (p.Ser4783=)
c.14420G= (p.Ser4807=)
1g.237808989G>TCA345424389RYR2c.*5479G>T (n.*5479G>T)
c.14369G>T (p.Ser4790Ile)
c.14408G>T (p.Ser4803Ile)
c.6558G>T
c.14387G>T (p.Ser4796Ile)
c.14336G>T (p.Ser4779Ile)
n.898G>T
c.14441G>T (p.Ser4814Ile)
c.14438G>T (p.Ser4813Ile)
c.14417G>T (p.Ser4806Ile)
c.14411G>T (p.Ser4804Ile)
c.14405G>T (p.Ser4802Ile)
c.14381G>T (p.Ser4794Ile)
c.14204G>T (p.Ser4735Ile)
c.14348G>T (p.Ser4783Ile)
c.14420G>T (p.Ser4807Ile)
 gnomAD v4
1g.237808990T>ACA345424390RYR2c.*5480T>A (n.*5480T>A)
c.14370T>A (p.Ser4790Arg)
c.14409T>A (p.Ser4803Arg)
c.6559T>A
c.14388T>A (p.Ser4796Arg)
c.14337T>A (p.Ser4779Arg)
n.899T>A
c.14442T>A (p.Ser4814Arg)
c.14439T>A (p.Ser4813Arg)
c.14418T>A (p.Ser4806Arg)
c.14412T>A (p.Ser4804Arg)
c.14406T>A (p.Ser4802Arg)
c.14382T>A (p.Ser4794Arg)
c.14205T>A (p.Ser4735Arg)
c.14349T>A (p.Ser4783Arg)
c.14421T>A (p.Ser4807Arg)
1g.237808990T>CCA424051739RYR2c.*5480T>C (n.*5480T>C)
c.14370T>C (p.Ser4790=)
c.14409T>C (p.Ser4803=)
c.6559T>C
c.14388T>C (p.Ser4796=)
c.14337T>C (p.Ser4779=)
n.899T>C
c.14442T>C (p.Ser4814=)
c.14439T>C (p.Ser4813=)
c.14418T>C (p.Ser4806=)
c.14412T>C (p.Ser4804=)
c.14406T>C (p.Ser4802=)
c.14382T>C (p.Ser4794=)
c.14205T>C (p.Ser4735=)
c.14349T>C (p.Ser4783=)
c.14421T>C (p.Ser4807=)
 ClinVar dbSNP gnomAD v4
1g.237808990T>GCA345424392RYR2c.*5480T>G (n.*5480T>G)
c.14370T>G (p.Ser4790Arg)
c.14409T>G (p.Ser4803Arg)
c.6559T>G
c.14388T>G (p.Ser4796Arg)
c.14337T>G (p.Ser4779Arg)
n.899T>G
c.14442T>G (p.Ser4814Arg)
c.14439T>G (p.Ser4813Arg)
c.14418T>G (p.Ser4806Arg)
c.14412T>G (p.Ser4804Arg)
c.14406T>G (p.Ser4802Arg)
c.14382T>G (p.Ser4794Arg)
c.14205T>G (p.Ser4735Arg)
c.14349T>G (p.Ser4783Arg)
c.14421T>G (p.Ser4807Arg)
1g.237808991G>ACA345424395RYR2c.*5481G>A (n.*5481G>A)
c.14371G>A (p.Glu4791Lys)
c.14410G>A (p.Glu4804Lys)
c.6560G>A
c.14389G>A (p.Glu4797Lys)
c.14338G>A (p.Glu4780Lys)
n.900G>A
c.14443G>A (p.Glu4815Lys)
c.14440G>A (p.Glu4814Lys)
c.14419G>A (p.Glu4807Lys)
c.14413G>A (p.Glu4805Lys)
c.14407G>A (p.Glu4803Lys)
c.14383G>A (p.Glu4795Lys)
c.14206G>A (p.Glu4736Lys)
c.14350G>A (p.Glu4784Lys)
c.14422G>A (p.Glu4808Lys)
 dbSNP
1g.237808991G>CCA345424398RYR2c.*5481G>C (n.*5481G>C)
c.14371G>C (p.Glu4791Gln)
c.14410G>C (p.Glu4804Gln)
c.6560G>C
c.14389G>C (p.Glu4797Gln)
c.14338G>C (p.Glu4780Gln)
n.900G>C
c.14443G>C (p.Glu4815Gln)
c.14440G>C (p.Glu4814Gln)
c.14419G>C (p.Glu4807Gln)
c.14413G>C (p.Glu4805Gln)
c.14407G>C (p.Glu4803Gln)
c.14383G>C (p.Glu4795Gln)
c.14206G>C (p.Glu4736Gln)
c.14350G>C (p.Glu4784Gln)
c.14422G>C (p.Glu4808Gln)
1g.237808991G=CA2487493401RYR2c.*5481G= (n.*5481G=)
c.14371G= (p.Glu4791=)
c.14410G= (p.Glu4804=)
c.6560G=
c.14389G= (p.Glu4797=)
c.14338G= (p.Glu4780=)
n.900G=
c.14443G= (p.Glu4815=)
c.14440G= (p.Glu4814=)
c.14419G= (p.Glu4807=)
c.14413G= (p.Glu4805=)
c.14407G= (p.Glu4803=)
c.14383G= (p.Glu4795=)
c.14206G= (p.Glu4736=)
c.14350G= (p.Glu4784=)
c.14422G= (p.Glu4808=)
1g.237808991G>TCA345424396RYR2c.*5481G>T (n.*5481G>T)
c.14371G>T (p.Glu4791Ter)
c.14410G>T (p.Glu4804Ter)
c.6560G>T
c.14389G>T (p.Glu4797Ter)
c.14338G>T (p.Glu4780Ter)
n.900G>T
c.14443G>T (p.Glu4815Ter)
c.14440G>T (p.Glu4814Ter)
c.14419G>T (p.Glu4807Ter)
c.14413G>T (p.Glu4805Ter)
c.14407G>T (p.Glu4803Ter)
c.14383G>T (p.Glu4795Ter)
c.14206G>T (p.Glu4736Ter)
c.14350G>T (p.Glu4784Ter)
c.14422G>T (p.Glu4808Ter)
1g.237808992A>CCA345424400RYR2c.*5482A>C (n.*5482A>C)
c.14372A>C (p.Glu4791Ala)
c.14411A>C (p.Glu4804Ala)
c.6561A>C
c.14390A>C (p.Glu4797Ala)
c.14339A>C (p.Glu4780Ala)
n.901A>C
c.14444A>C (p.Glu4815Ala)
c.14441A>C (p.Glu4814Ala)
c.14420A>C (p.Glu4807Ala)
c.14414A>C (p.Glu4805Ala)
c.14408A>C (p.Glu4803Ala)
c.14384A>C (p.Glu4795Ala)
c.14207A>C (p.Glu4736Ala)
c.14351A>C (p.Glu4784Ala)
c.14423A>C (p.Glu4808Ala)
1g.237808992A>GCA345424403RYR2c.*5482A>G (n.*5482A>G)
c.14372A>G (p.Glu4791Gly)
c.14411A>G (p.Glu4804Gly)
c.6561A>G
c.14390A>G (p.Glu4797Gly)
c.14339A>G (p.Glu4780Gly)
n.901A>G
c.14444A>G (p.Glu4815Gly)
c.14441A>G (p.Glu4814Gly)
c.14420A>G (p.Glu4807Gly)
c.14414A>G (p.Glu4805Gly)
c.14408A>G (p.Glu4803Gly)
c.14384A>G (p.Glu4795Gly)
c.14207A>G (p.Glu4736Gly)
c.14351A>G (p.Glu4784Gly)
c.14423A>G (p.Glu4808Gly)
1g.237808992A>TCA345424401RYR2c.*5482A>T (n.*5482A>T)
c.14372A>T (p.Glu4791Val)
c.14411A>T (p.Glu4804Val)
c.6561A>T
c.14390A>T (p.Glu4797Val)
c.14339A>T (p.Glu4780Val)
n.901A>T
c.14444A>T (p.Glu4815Val)
c.14441A>T (p.Glu4814Val)
c.14420A>T (p.Glu4807Val)
c.14414A>T (p.Glu4805Val)
c.14408A>T (p.Glu4803Val)
c.14384A>T (p.Glu4795Val)
c.14207A>T (p.Glu4736Val)
c.14351A>T (p.Glu4784Val)
c.14423A>T (p.Glu4808Val)
1g.237808993A>CCA345424405RYR2c.*5483A>C (n.*5483A>C)
c.14373A>C (p.Glu4791Asp)
c.14412A>C (p.Glu4804Asp)
c.6562A>C
c.14391A>C (p.Glu4797Asp)
c.14340A>C (p.Glu4780Asp)
n.902A>C
c.14445A>C (p.Glu4815Asp)
c.14442A>C (p.Glu4814Asp)
c.14421A>C (p.Glu4807Asp)
c.14415A>C (p.Glu4805Asp)
c.14409A>C (p.Glu4803Asp)
c.14385A>C (p.Glu4795Asp)
c.14208A>C (p.Glu4736Asp)
c.14352A>C (p.Glu4784Asp)
c.14424A>C (p.Glu4808Asp)
1g.237808993A>GCA424051740RYR2c.*5483A>G (n.*5483A>G)
c.14373A>G (p.Glu4791=)
c.14412A>G (p.Glu4804=)
c.6562A>G
c.14391A>G (p.Glu4797=)
c.14340A>G (p.Glu4780=)
n.902A>G
c.14445A>G (p.Glu4815=)
c.14442A>G (p.Glu4814=)
c.14421A>G (p.Glu4807=)
c.14415A>G (p.Glu4805=)
c.14409A>G (p.Glu4803=)
c.14385A>G (p.Glu4795=)
c.14208A>G (p.Glu4736=)
c.14352A>G (p.Glu4784=)
c.14424A>G (p.Glu4808=)
1g.237808993A>TCA345424406RYR2c.*5483A>T (n.*5483A>T)
c.14373A>T (p.Glu4791Asp)
c.14412A>T (p.Glu4804Asp)
c.6562A>T
c.14391A>T (p.Glu4797Asp)
c.14340A>T (p.Glu4780Asp)
n.902A>T
c.14445A>T (p.Glu4815Asp)
c.14442A>T (p.Glu4814Asp)
c.14421A>T (p.Glu4807Asp)
c.14415A>T (p.Glu4805Asp)
c.14409A>T (p.Glu4803Asp)
c.14385A>T (p.Glu4795Asp)
c.14208A>T (p.Glu4736Asp)
c.14352A>T (p.Glu4784Asp)
c.14424A>T (p.Glu4808Asp)
1g.237808994G>ACA345424409RYR2c.*5484G>A (n.*5484G>A)
c.14374G>A (p.Asp4792Asn)
c.14413G>A (p.Asp4805Asn)
c.6563G>A
c.14392G>A (p.Asp4798Asn)
c.14341G>A (p.Asp4781Asn)
n.903G>A
c.14446G>A (p.Asp4816Asn)
c.14443G>A (p.Asp4815Asn)
c.14422G>A (p.Asp4808Asn)
c.14416G>A (p.Asp4806Asn)
c.14410G>A (p.Asp4804Asn)
c.14386G>A (p.Asp4796Asn)
c.14209G>A (p.Asp4737Asn)
c.14353G>A (p.Asp4785Asn)
c.14425G>A (p.Asp4809Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.237808994G>CCA345424411RYR2c.*5484G>C (n.*5484G>C)
c.14374G>C (p.Asp4792His)
c.14413G>C (p.Asp4805His)
c.6563G>C
c.14392G>C (p.Asp4798His)
c.14341G>C (p.Asp4781His)
n.903G>C
c.14446G>C (p.Asp4816His)
c.14443G>C (p.Asp4815His)
c.14422G>C (p.Asp4808His)
c.14416G>C (p.Asp4806His)
c.14410G>C (p.Asp4804His)
c.14386G>C (p.Asp4796His)
c.14209G>C (p.Asp4737His)
c.14353G>C (p.Asp4785His)
c.14425G>C (p.Asp4809His)
1g.237808994G=CA2487493402RYR2c.*5484G= (n.*5484G=)
c.14374G= (p.Asp4792=)
c.14413G= (p.Asp4805=)
c.6563G=
c.14392G= (p.Asp4798=)
c.14341G= (p.Asp4781=)
n.903G=
c.14446G= (p.Asp4816=)
c.14443G= (p.Asp4815=)
c.14422G= (p.Asp4808=)
c.14416G= (p.Asp4806=)
c.14410G= (p.Asp4804=)
c.14386G= (p.Asp4796=)
c.14209G= (p.Asp4737=)
c.14353G= (p.Asp4785=)
c.14425G= (p.Asp4809=)
1g.237808994G>TCA345424413RYR2c.*5484G>T (n.*5484G>T)
c.14374G>T (p.Asp4792Tyr)
c.14413G>T (p.Asp4805Tyr)
c.6563G>T
c.14392G>T (p.Asp4798Tyr)
c.14341G>T (p.Asp4781Tyr)
n.903G>T
c.14446G>T (p.Asp4816Tyr)
c.14443G>T (p.Asp4815Tyr)
c.14422G>T (p.Asp4808Tyr)
c.14416G>T (p.Asp4806Tyr)
c.14410G>T (p.Asp4804Tyr)
c.14386G>T (p.Asp4796Tyr)
c.14209G>T (p.Asp4737Tyr)
c.14353G>T (p.Asp4785Tyr)
c.14425G>T (p.Asp4809Tyr)
 dbSNP gnomAD v2 gnomAD v4
1g.237808995A>CCA345424414RYR2c.*5485A>C (n.*5485A>C)
c.14375A>C (p.Asp4792Ala)
c.14414A>C (p.Asp4805Ala)
c.6564A>C
c.14393A>C (p.Asp4798Ala)
c.14342A>C (p.Asp4781Ala)
n.904A>C
c.14447A>C (p.Asp4816Ala)
c.14444A>C (p.Asp4815Ala)
c.14423A>C (p.Asp4808Ala)
c.14417A>C (p.Asp4806Ala)
c.14411A>C (p.Asp4804Ala)
c.14387A>C (p.Asp4796Ala)
c.14210A>C (p.Asp4737Ala)
c.14354A>C (p.Asp4785Ala)
c.14426A>C (p.Asp4809Ala)
1g.237808995A>GCA345424416RYR2c.*5485A>G (n.*5485A>G)
c.14375A>G (p.Asp4792Gly)
c.14414A>G (p.Asp4805Gly)
c.6564A>G
c.14393A>G (p.Asp4798Gly)
c.14342A>G (p.Asp4781Gly)
n.904A>G
c.14447A>G (p.Asp4816Gly)
c.14444A>G (p.Asp4815Gly)
c.14423A>G (p.Asp4808Gly)
c.14417A>G (p.Asp4806Gly)
c.14411A>G (p.Asp4804Gly)
c.14387A>G (p.Asp4796Gly)
c.14210A>G (p.Asp4737Gly)
c.14354A>G (p.Asp4785Gly)
c.14426A>G (p.Asp4809Gly)
 ClinVar gnomAD v4
1g.237808995A>TCA345424418RYR2c.*5485A>T (n.*5485A>T)
c.14375A>T (p.Asp4792Val)
c.14414A>T (p.Asp4805Val)
c.6564A>T
c.14393A>T (p.Asp4798Val)
c.14342A>T (p.Asp4781Val)
n.904A>T
c.14447A>T (p.Asp4816Val)
c.14444A>T (p.Asp4815Val)
c.14423A>T (p.Asp4808Val)
c.14417A>T (p.Asp4806Val)
c.14411A>T (p.Asp4804Val)
c.14387A>T (p.Asp4796Val)
c.14210A>T (p.Asp4737Val)
c.14354A>T (p.Asp4785Val)
c.14426A>T (p.Asp4809Val)
1g.237808996T>ACA345424420RYR2c.*5486T>A (n.*5486T>A)
c.14376T>A (p.Asp4792Glu)
c.14415T>A (p.Asp4805Glu)
c.6565T>A
c.14394T>A (p.Asp4798Glu)
c.14343T>A (p.Asp4781Glu)
n.905T>A
c.14448T>A (p.Asp4816Glu)
c.14445T>A (p.Asp4815Glu)
c.14424T>A (p.Asp4808Glu)
c.14418T>A (p.Asp4806Glu)
c.14412T>A (p.Asp4804Glu)
c.14388T>A (p.Asp4796Glu)
c.14211T>A (p.Asp4737Glu)
c.14355T>A (p.Asp4785Glu)
c.14427T>A (p.Asp4809Glu)
1g.237808996T>CCA424051741RYR2c.*5486T>C (n.*5486T>C)
c.14376T>C (p.Asp4792=)
c.14415T>C (p.Asp4805=)
c.6565T>C
c.14394T>C (p.Asp4798=)
c.14343T>C (p.Asp4781=)
n.905T>C
c.14448T>C (p.Asp4816=)
c.14445T>C (p.Asp4815=)
c.14424T>C (p.Asp4808=)
c.14418T>C (p.Asp4806=)
c.14412T>C (p.Asp4804=)
c.14388T>C (p.Asp4796=)
c.14211T>C (p.Asp4737=)
c.14355T>C (p.Asp4785=)
c.14427T>C (p.Asp4809=)
1g.237808996T>GCA345424422RYR2c.*5486T>G (n.*5486T>G)
c.14376T>G (p.Asp4792Glu)
c.14415T>G (p.Asp4805Glu)
c.6565T>G
c.14394T>G (p.Asp4798Glu)
c.14343T>G (p.Asp4781Glu)
n.905T>G
c.14448T>G (p.Asp4816Glu)
c.14445T>G (p.Asp4815Glu)
c.14424T>G (p.Asp4808Glu)
c.14418T>G (p.Asp4806Glu)
c.14412T>G (p.Asp4804Glu)
c.14388T>G (p.Asp4796Glu)
c.14211T>G (p.Asp4737Glu)
c.14355T>G (p.Asp4785Glu)
c.14427T>G (p.Asp4809Glu)
1g.237808997G>ACA345424423RYR2c.*5487G>A (n.*5487G>A)
c.14377G>A (p.Gly4793Ser)
c.14416G>A (p.Gly4806Ser)
c.6566G>A
c.14395G>A (p.Gly4799Ser)
c.14344G>A (p.Gly4782Ser)
n.906G>A
c.14449G>A (p.Gly4817Ser)
c.14446G>A (p.Gly4816Ser)
c.14425G>A (p.Gly4809Ser)
c.14419G>A (p.Gly4807Ser)
c.14413G>A (p.Gly4805Ser)
c.14389G>A (p.Gly4797Ser)
c.14212G>A (p.Gly4738Ser)
c.14356G>A (p.Gly4786Ser)
c.14428G>A (p.Gly4810Ser)
 gnomAD v4 COSMIC COSMIC
1g.237808997G>CCA345424425RYR2c.*5487G>C (n.*5487G>C)
c.14377G>C (p.Gly4793Arg)
c.14416G>C (p.Gly4806Arg)
c.6566G>C
c.14395G>C (p.Gly4799Arg)
c.14344G>C (p.Gly4782Arg)
n.906G>C
c.14449G>C (p.Gly4817Arg)
c.14446G>C (p.Gly4816Arg)
c.14425G>C (p.Gly4809Arg)
c.14419G>C (p.Gly4807Arg)
c.14413G>C (p.Gly4805Arg)
c.14389G>C (p.Gly4797Arg)
c.14212G>C (p.Gly4738Arg)
c.14356G>C (p.Gly4786Arg)
c.14428G>C (p.Gly4810Arg)
1g.237808997G>TCA345424427RYR2c.*5487G>T (n.*5487G>T)
c.14377G>T (p.Gly4793Cys)
c.14416G>T (p.Gly4806Cys)
c.6566G>T
c.14395G>T (p.Gly4799Cys)
c.14344G>T (p.Gly4782Cys)
n.906G>T
c.14449G>T (p.Gly4817Cys)
c.14446G>T (p.Gly4816Cys)
c.14425G>T (p.Gly4809Cys)
c.14419G>T (p.Gly4807Cys)
c.14413G>T (p.Gly4805Cys)
c.14389G>T (p.Gly4797Cys)
c.14212G>T (p.Gly4738Cys)
c.14356G>T (p.Gly4786Cys)
c.14428G>T (p.Gly4810Cys)
1g.237808998G>ACA345424433RYR2c.*5488G>A (n.*5488G>A)
c.14378G>A (p.Gly4793Asp)
c.14417G>A (p.Gly4806Asp)
c.6567G>A
c.14396G>A (p.Gly4799Asp)
c.14345G>A (p.Gly4782Asp)
n.907G>A
c.14450G>A (p.Gly4817Asp)
c.14447G>A (p.Gly4816Asp)
c.14426G>A (p.Gly4809Asp)
c.14420G>A (p.Gly4807Asp)
c.14414G>A (p.Gly4805Asp)
c.14390G>A (p.Gly4797Asp)
c.14213G>A (p.Gly4738Asp)
c.14357G>A (p.Gly4786Asp)
c.14429G>A (p.Gly4810Asp)
1g.237808998G>CCA345424431RYR2c.*5488G>C (n.*5488G>C)
c.14378G>C (p.Gly4793Ala)
c.14417G>C (p.Gly4806Ala)
c.6567G>C
c.14396G>C (p.Gly4799Ala)
c.14345G>C (p.Gly4782Ala)
n.907G>C
c.14450G>C (p.Gly4817Ala)
c.14447G>C (p.Gly4816Ala)
c.14426G>C (p.Gly4809Ala)
c.14420G>C (p.Gly4807Ala)
c.14414G>C (p.Gly4805Ala)
c.14390G>C (p.Gly4797Ala)
c.14213G>C (p.Gly4738Ala)
c.14357G>C (p.Gly4786Ala)
c.14429G>C (p.Gly4810Ala)
1g.237808998G>TCA345424429RYR2c.*5488G>T (n.*5488G>T)
c.14378G>T (p.Gly4793Val)
c.14417G>T (p.Gly4806Val)
c.6567G>T
c.14396G>T (p.Gly4799Val)
c.14345G>T (p.Gly4782Val)
n.907G>T
c.14450G>T (p.Gly4817Val)
c.14447G>T (p.Gly4816Val)
c.14426G>T (p.Gly4809Val)
c.14420G>T (p.Gly4807Val)
c.14414G>T (p.Gly4805Val)
c.14390G>T (p.Gly4797Val)
c.14213G>T (p.Gly4738Val)
c.14357G>T (p.Gly4786Val)
c.14429G>T (p.Gly4810Val)
1g.237808999T>ACA424051742RYR2c.*5489T>A (n.*5489T>A)
c.14379T>A (p.Gly4793=)
c.14418T>A (p.Gly4806=)
c.6568T>A
c.14397T>A (p.Gly4799=)
c.14346T>A (p.Gly4782=)
n.908T>A
c.14451T>A (p.Gly4817=)
c.14448T>A (p.Gly4816=)
c.14427T>A (p.Gly4809=)
c.14421T>A (p.Gly4807=)
c.14415T>A (p.Gly4805=)
c.14391T>A (p.Gly4797=)
c.14214T>A (p.Gly4738=)
c.14358T>A (p.Gly4786=)
c.14430T>A (p.Gly4810=)
1g.237808999T>CCA424051743RYR2c.*5489T>C (n.*5489T>C)
c.14379T>C (p.Gly4793=)
c.14418T>C (p.Gly4806=)
c.6568T>C
c.14397T>C (p.Gly4799=)
c.14346T>C (p.Gly4782=)
n.908T>C
c.14451T>C (p.Gly4817=)
c.14448T>C (p.Gly4816=)
c.14427T>C (p.Gly4809=)
c.14421T>C (p.Gly4807=)
c.14415T>C (p.Gly4805=)
c.14391T>C (p.Gly4797=)
c.14214T>C (p.Gly4738=)
c.14358T>C (p.Gly4786=)
c.14430T>C (p.Gly4810=)
1g.237808999T>GCA424051744RYR2c.*5489T>G (n.*5489T>G)
c.14379T>G (p.Gly4793=)
c.14418T>G (p.Gly4806=)
c.6568T>G
c.14397T>G (p.Gly4799=)
c.14346T>G (p.Gly4782=)
n.908T>G
c.14451T>G (p.Gly4817=)
c.14448T>G (p.Gly4816=)
c.14427T>G (p.Gly4809=)
c.14421T>G (p.Gly4807=)
c.14415T>G (p.Gly4805=)
c.14391T>G (p.Gly4797=)
c.14214T>G (p.Gly4738=)
c.14358T>G (p.Gly4786=)
c.14430T>G (p.Gly4810=)
1g.237809000G>ACA345424435RYR2c.*5490G>A (n.*5490G>A)
c.14380G>A (p.Asp4794Asn)
c.14419G>A (p.Asp4807Asn)
c.6569G>A
c.14398G>A (p.Asp4800Asn)
c.14347G>A (p.Asp4783Asn)
n.909G>A
c.14452G>A (p.Asp4818Asn)
c.14449G>A (p.Asp4817Asn)
c.14428G>A (p.Asp4810Asn)
c.14422G>A (p.Asp4808Asn)
c.14416G>A (p.Asp4806Asn)
c.14392G>A (p.Asp4798Asn)
c.14215G>A (p.Asp4739Asn)
c.14359G>A (p.Asp4787Asn)
c.14431G>A (p.Asp4811Asn)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
1g.237809000G>CCA345424438RYR2c.*5490G>C (n.*5490G>C)
c.14380G>C (p.Asp4794His)
c.14419G>C (p.Asp4807His)
c.6569G>C
c.14398G>C (p.Asp4800His)
c.14347G>C (p.Asp4783His)
n.909G>C
c.14452G>C (p.Asp4818His)
c.14449G>C (p.Asp4817His)
c.14428G>C (p.Asp4810His)
c.14422G>C (p.Asp4808His)
c.14416G>C (p.Asp4806His)
c.14392G>C (p.Asp4798His)
c.14215G>C (p.Asp4739His)
c.14359G>C (p.Asp4787His)
c.14431G>C (p.Asp4811His)
1g.237809000G=CA2487493403RYR2c.*5490G= (n.*5490G=)
c.14380G= (p.Asp4794=)
c.14419G= (p.Asp4807=)
c.6569G=
c.14398G= (p.Asp4800=)
c.14347G= (p.Asp4783=)
n.909G=
c.14452G= (p.Asp4818=)
c.14449G= (p.Asp4817=)
c.14428G= (p.Asp4810=)
c.14422G= (p.Asp4808=)
c.14416G= (p.Asp4806=)
c.14392G= (p.Asp4798=)
c.14215G= (p.Asp4739=)
c.14359G= (p.Asp4787=)
c.14431G= (p.Asp4811=)
1g.237809000G>TCA345424439RYR2c.*5490G>T (n.*5490G>T)
c.14380G>T (p.Asp4794Tyr)
c.14419G>T (p.Asp4807Tyr)
c.6569G>T
c.14398G>T (p.Asp4800Tyr)
c.14347G>T (p.Asp4783Tyr)
n.909G>T
c.14452G>T (p.Asp4818Tyr)
c.14449G>T (p.Asp4817Tyr)
c.14428G>T (p.Asp4810Tyr)
c.14422G>T (p.Asp4808Tyr)
c.14416G>T (p.Asp4806Tyr)
c.14392G>T (p.Asp4798Tyr)
c.14215G>T (p.Asp4739Tyr)
c.14359G>T (p.Asp4787Tyr)
c.14431G>T (p.Asp4811Tyr)
1g.237809001A>CCA345424449RYR2c.*5491A>C (n.*5491A>C)
c.14381A>C (p.Asp4794Ala)
c.14420A>C (p.Asp4807Ala)
c.6570A>C
c.14399A>C (p.Asp4800Ala)
c.14348A>C (p.Asp4783Ala)
n.910A>C
c.14453A>C (p.Asp4818Ala)
c.14450A>C (p.Asp4817Ala)
c.14429A>C (p.Asp4810Ala)
c.14423A>C (p.Asp4808Ala)
c.14417A>C (p.Asp4806Ala)
c.14393A>C (p.Asp4798Ala)
c.14216A>C (p.Asp4739Ala)
c.14360A>C (p.Asp4787Ala)
c.14432A>C (p.Asp4811Ala)
1g.237809001A>GCA068264RYR2c.*5491A>G (n.*5491A>G)
c.14381A>G (p.Asp4794Gly)
c.14420A>G (p.Asp4807Gly)
c.6570A>G
c.14399A>G (p.Asp4800Gly)
c.14348A>G (p.Asp4783Gly)
n.910A>G
c.14453A>G (p.Asp4818Gly)
c.14450A>G (p.Asp4817Gly)
c.14429A>G (p.Asp4810Gly)
c.14423A>G (p.Asp4808Gly)
c.14417A>G (p.Asp4806Gly)
c.14393A>G (p.Asp4798Gly)
c.14216A>G (p.Asp4739Gly)
c.14360A>G (p.Asp4787Gly)
c.14432A>G (p.Asp4811Gly)
 COSMIC COSMIC
1g.237809001A>TCA345424450RYR2c.*5491A>T (n.*5491A>T)
c.14381A>T (p.Asp4794Val)
c.14420A>T (p.Asp4807Val)
c.6570A>T
c.14399A>T (p.Asp4800Val)
c.14348A>T (p.Asp4783Val)
n.910A>T
c.14453A>T (p.Asp4818Val)
c.14450A>T (p.Asp4817Val)
c.14429A>T (p.Asp4810Val)
c.14423A>T (p.Asp4808Val)
c.14417A>T (p.Asp4806Val)
c.14393A>T (p.Asp4798Val)
c.14216A>T (p.Asp4739Val)
c.14360A>T (p.Asp4787Val)
c.14432A>T (p.Asp4811Val)
1g.237809001_237809003delCA2697547705RYR2c.*5491_*5493del (n.*5491_*5493del)
c.14381_14383del (p.Asp4794_Thr4795delinsAla)
c.14420_14422del (p.Asp4807_Thr4808delinsAla)
c.6570_6572del
c.14399_14401del (p.Asp4800_Thr4801delinsAla)
c.14348_14350del (p.Asp4783_Thr4784delinsAla)
n.910_912del
c.14453_14455del (p.Asp4818_Thr4819delinsAla)
c.14450_14452del (p.Asp4817_Thr4818delinsAla)
c.14429_14431del (p.Asp4810_Thr4811delinsAla)
c.14423_14425del (p.Asp4808_Thr4809delinsAla)
c.14417_14419del (p.Asp4806_Thr4807delinsAla)
c.14393_14395del (p.Asp4798_Thr4799delinsAla)
c.14216_14218del (p.Asp4739_Thr4740delinsAla)
c.14360_14362del (p.Asp4787_Thr4788delinsAla)
c.14432_14434del (p.Asp4811_Thr4812delinsAla)
 ClinVar
1g.237809002T>ACA345424452RYR2c.*5492T>A (n.*5492T>A)
c.14382T>A (p.Asp4794Glu)
c.14421T>A (p.Asp4807Glu)
c.6571T>A
c.14400T>A (p.Asp4800Glu)
c.14349T>A (p.Asp4783Glu)
n.911T>A
c.14454T>A (p.Asp4818Glu)
c.14451T>A (p.Asp4817Glu)
c.14430T>A (p.Asp4810Glu)
c.14424T>A (p.Asp4808Glu)
c.14418T>A (p.Asp4806Glu)
c.14394T>A (p.Asp4798Glu)
c.14217T>A (p.Asp4739Glu)
c.14361T>A (p.Asp4787Glu)
c.14433T>A (p.Asp4811Glu)
 COSMIC
1g.237809002T>CCA424051745RYR2c.*5492T>C (n.*5492T>C)
c.14382T>C (p.Asp4794=)
c.14421T>C (p.Asp4807=)
c.6571T>C
c.14400T>C (p.Asp4800=)
c.14349T>C (p.Asp4783=)
n.911T>C
c.14454T>C (p.Asp4818=)
c.14451T>C (p.Asp4817=)
c.14430T>C (p.Asp4810=)
c.14424T>C (p.Asp4808=)
c.14418T>C (p.Asp4806=)
c.14394T>C (p.Asp4798=)
c.14217T>C (p.Asp4739=)
c.14361T>C (p.Asp4787=)
c.14433T>C (p.Asp4811=)
 ClinVar dbSNP
1g.237809002T>GCA345424454RYR2c.*5492T>G (n.*5492T>G)
c.14382T>G (p.Asp4794Glu)
c.14421T>G (p.Asp4807Glu)
c.6571T>G
c.14400T>G (p.Asp4800Glu)
c.14349T>G (p.Asp4783Glu)
n.911T>G
c.14454T>G (p.Asp4818Glu)
c.14451T>G (p.Asp4817Glu)
c.14430T>G (p.Asp4810Glu)
c.14424T>G (p.Asp4808Glu)
c.14418T>G (p.Asp4806Glu)
c.14394T>G (p.Asp4798Glu)
c.14217T>G (p.Asp4739Glu)
c.14361T>G (p.Asp4787Glu)
c.14433T>G (p.Asp4811Glu)
1g.237809002T=CA2487493404RYR2c.*5492T= (n.*5492T=)
c.14382T= (p.Asp4794=)
c.14421T= (p.Asp4807=)
c.6571T=
c.14400T= (p.Asp4800=)
c.14349T= (p.Asp4783=)
n.911T=
c.14454T= (p.Asp4818=)
c.14451T= (p.Asp4817=)
c.14430T= (p.Asp4810=)
c.14424T= (p.Asp4808=)
c.14418T= (p.Asp4806=)
c.14394T= (p.Asp4798=)
c.14217T= (p.Asp4739=)
c.14361T= (p.Asp4787=)
c.14433T= (p.Asp4811=)
1g.237809003A>CCA345424456RYR2c.*5493A>C (n.*5493A>C)
c.14383A>C (p.Thr4795Pro)
c.14422A>C (p.Thr4808Pro)
c.6572A>C
c.14401A>C (p.Thr4801Pro)
c.14350A>C (p.Thr4784Pro)
n.912A>C
c.14455A>C (p.Thr4819Pro)
c.14452A>C (p.Thr4818Pro)
c.14431A>C (p.Thr4811Pro)
c.14425A>C (p.Thr4809Pro)
c.14419A>C (p.Thr4807Pro)
c.14395A>C (p.Thr4799Pro)
c.14218A>C (p.Thr4740Pro)
c.14362A>C (p.Thr4788Pro)
c.14434A>C (p.Thr4812Pro)
1g.237809003A>GCA345424458RYR2c.*5493A>G (n.*5493A>G)
c.14383A>G (p.Thr4795Ala)
c.14422A>G (p.Thr4808Ala)
c.6572A>G
c.14401A>G (p.Thr4801Ala)
c.14350A>G (p.Thr4784Ala)
n.912A>G
c.14455A>G (p.Thr4819Ala)
c.14452A>G (p.Thr4818Ala)
c.14431A>G (p.Thr4811Ala)
c.14425A>G (p.Thr4809Ala)
c.14419A>G (p.Thr4807Ala)
c.14395A>G (p.Thr4799Ala)
c.14218A>G (p.Thr4740Ala)
c.14362A>G (p.Thr4788Ala)
c.14434A>G (p.Thr4812Ala)
 gnomAD v4
1g.237809003A>TCA345424459RYR2c.*5493A>T (n.*5493A>T)
c.14383A>T (p.Thr4795Ser)
c.14422A>T (p.Thr4808Ser)
c.6572A>T
c.14401A>T (p.Thr4801Ser)
c.14350A>T (p.Thr4784Ser)
n.912A>T
c.14455A>T (p.Thr4819Ser)
c.14452A>T (p.Thr4818Ser)
c.14431A>T (p.Thr4811Ser)
c.14425A>T (p.Thr4809Ser)
c.14419A>T (p.Thr4807Ser)
c.14395A>T (p.Thr4799Ser)
c.14218A>T (p.Thr4740Ser)
c.14362A>T (p.Thr4788Ser)
c.14434A>T (p.Thr4812Ser)
1g.237809005_237809006delCA068267RYR2c.*5495_*5496del (n.*5495_*5496del)
c.14385_14386del (p.Pro4796ArgfsTer5)
c.14424_14425del (p.Pro4809ArgfsTer5)
c.6574_6575del
c.14403_14404del (p.Pro4802ArgfsTer5)
c.14352_14353del (p.Pro4785ArgfsTer5)
n.914_915del
c.14457_14458del (p.Pro4820ArgfsTer5)
c.14454_14455del (p.Pro4819ArgfsTer5)
c.14433_14434del (p.Pro4812ArgfsTer5)
c.14427_14428del (p.Pro4810ArgfsTer5)
c.14421_14422del (p.Pro4808ArgfsTer5)
c.14397_14398del (p.Pro4800ArgfsTer5)
c.14220_14221del (p.Pro4741ArgfsTer5)
c.14364_14365del (p.Pro4789ArgfsTer5)
c.14436_14437del (p.Pro4813ArgfsTer5)
 ClinVar
1g.237809004C>ACA345424461RYR2c.*5494C>A (n.*5494C>A)
c.14384C>A (p.Thr4795Lys)
c.14423C>A (p.Thr4808Lys)
c.6573C>A
c.14402C>A (p.Thr4801Lys)
c.14351C>A (p.Thr4784Lys)
n.913C>A
c.14456C>A (p.Thr4819Lys)
c.14453C>A (p.Thr4818Lys)
c.14432C>A (p.Thr4811Lys)
c.14426C>A (p.Thr4809Lys)
c.14420C>A (p.Thr4807Lys)
c.14396C>A (p.Thr4799Lys)
c.14219C>A (p.Thr4740Lys)
c.14363C>A (p.Thr4788Lys)
c.14435C>A (p.Thr4812Lys)
1g.237809004C=CA2487493405RYR2c.*5494C= (n.*5494C=)
c.14384C= (p.Thr4795=)
c.14423C= (p.Thr4808=)
c.6573C=
c.14402C= (p.Thr4801=)
c.14351C= (p.Thr4784=)
n.913C=
c.14456C= (p.Thr4819=)
c.14453C= (p.Thr4818=)
c.14432C= (p.Thr4811=)
c.14426C= (p.Thr4809=)
c.14420C= (p.Thr4807=)
c.14396C= (p.Thr4799=)
c.14219C= (p.Thr4740=)
c.14363C= (p.Thr4788=)
c.14435C= (p.Thr4812=)
1g.237809004C>GCA345424462RYR2c.*5494C>G (n.*5494C>G)
c.14384C>G (p.Thr4795Arg)
c.14423C>G (p.Thr4808Arg)
c.6573C>G
c.14402C>G (p.Thr4801Arg)
c.14351C>G (p.Thr4784Arg)
n.913C>G
c.14456C>G (p.Thr4819Arg)
c.14453C>G (p.Thr4818Arg)
c.14432C>G (p.Thr4811Arg)
c.14426C>G (p.Thr4809Arg)
c.14420C>G (p.Thr4807Arg)
c.14396C>G (p.Thr4799Arg)
c.14219C>G (p.Thr4740Arg)
c.14363C>G (p.Thr4788Arg)
c.14435C>G (p.Thr4812Arg)
1g.237809004C>TCA345424463RYR2c.*5494C>T (n.*5494C>T)
c.14384C>T (p.Thr4795Ile)
c.14423C>T (p.Thr4808Ile)
c.6573C>T
c.14402C>T (p.Thr4801Ile)
c.14351C>T (p.Thr4784Ile)
n.913C>T
c.14456C>T (p.Thr4819Ile)
c.14453C>T (p.Thr4818Ile)
c.14432C>T (p.Thr4811Ile)
c.14426C>T (p.Thr4809Ile)
c.14420C>T (p.Thr4807Ile)
c.14396C>T (p.Thr4799Ile)
c.14219C>T (p.Thr4740Ile)
c.14363C>T (p.Thr4788Ile)
c.14435C>T (p.Thr4812Ile)
 dbSNP gnomAD v2
1g.237809005A>CCA424051746RYR2c.*5495A>C (n.*5495A>C)
c.14385A>C (p.Thr4795=)
c.14424A>C (p.Thr4808=)
c.6574A>C
c.14403A>C (p.Thr4801=)
c.14352A>C (p.Thr4784=)
n.914A>C
c.14457A>C (p.Thr4819=)
c.14454A>C (p.Thr4818=)
c.14433A>C (p.Thr4811=)
c.14427A>C (p.Thr4809=)
c.14421A>C (p.Thr4807=)
c.14397A>C (p.Thr4799=)
c.14220A>C (p.Thr4740=)
c.14364A>C (p.Thr4788=)
c.14436A>C (p.Thr4812=)
1g.237809005A>GCA424051747RYR2c.*5495A>G (n.*5495A>G)
c.14385A>G (p.Thr4795=)
c.14424A>G (p.Thr4808=)
c.6574A>G
c.14403A>G (p.Thr4801=)
c.14352A>G (p.Thr4784=)
n.914A>G
c.14457A>G (p.Thr4819=)
c.14454A>G (p.Thr4818=)
c.14433A>G (p.Thr4811=)
c.14427A>G (p.Thr4809=)
c.14421A>G (p.Thr4807=)
c.14397A>G (p.Thr4799=)
c.14220A>G (p.Thr4740=)
c.14364A>G (p.Thr4788=)
c.14436A>G (p.Thr4812=)
 dbSNP
1g.237809005A>TCA424051748RYR2c.*5495A>T (n.*5495A>T)
c.14385A>T (p.Thr4795=)
c.14424A>T (p.Thr4808=)
c.6574A>T
c.14403A>T (p.Thr4801=)
c.14352A>T (p.Thr4784=)
n.914A>T
c.14457A>T (p.Thr4819=)
c.14454A>T (p.Thr4818=)
c.14433A>T (p.Thr4811=)
c.14427A>T (p.Thr4809=)
c.14421A>T (p.Thr4807=)
c.14397A>T (p.Thr4799=)
c.14220A>T (p.Thr4740=)
c.14364A>T (p.Thr4788=)
c.14436A>T (p.Thr4812=)
1g.237809006C>ACA345424470RYR2c.*5496C>A (n.*5496C>A)
c.14386C>A (p.Pro4796Thr)
c.14425C>A (p.Pro4809Thr)
c.6575C>A
c.14404C>A (p.Pro4802Thr)
c.14353C>A (p.Pro4785Thr)
n.915C>A
c.14458C>A (p.Pro4820Thr)
c.14455C>A (p.Pro4819Thr)
c.14434C>A (p.Pro4812Thr)
c.14428C>A (p.Pro4810Thr)
c.14422C>A (p.Pro4808Thr)
c.14398C>A (p.Pro4800Thr)
c.14221C>A (p.Pro4741Thr)
c.14365C>A (p.Pro4789Thr)
c.14437C>A (p.Pro4813Thr)
1g.237809006C=CA2487493406RYR2c.*5496C= (n.*5496C=)
c.14386C= (p.Pro4796=)
c.14425C= (p.Pro4809=)
c.6575C=
c.14404C= (p.Pro4802=)
c.14353C= (p.Pro4785=)
n.915C=
c.14458C= (p.Pro4820=)
c.14455C= (p.Pro4819=)
c.14434C= (p.Pro4812=)
c.14428C= (p.Pro4810=)
c.14422C= (p.Pro4808=)
c.14398C= (p.Pro4800=)
c.14221C= (p.Pro4741=)
c.14365C= (p.Pro4789=)
c.14437C= (p.Pro4813=)
1g.237809006C>GCA345424468RYR2c.*5496C>G (n.*5496C>G)
c.14386C>G (p.Pro4796Ala)
c.14425C>G (p.Pro4809Ala)
c.6575C>G
c.14404C>G (p.Pro4802Ala)
c.14353C>G (p.Pro4785Ala)
n.915C>G
c.14458C>G (p.Pro4820Ala)
c.14455C>G (p.Pro4819Ala)
c.14434C>G (p.Pro4812Ala)
c.14428C>G (p.Pro4810Ala)
c.14422C>G (p.Pro4808Ala)
c.14398C>G (p.Pro4800Ala)
c.14221C>G (p.Pro4741Ala)
c.14365C>G (p.Pro4789Ala)
c.14437C>G (p.Pro4813Ala)
1g.237809006C>TCA085652RYR2c.*5496C>T (n.*5496C>T)
c.14386C>T (p.Pro4796Ser)
c.14425C>T (p.Pro4809Ser)
c.6575C>T
c.14404C>T (p.Pro4802Ser)
c.14353C>T (p.Pro4785Ser)
n.915C>T
c.14458C>T (p.Pro4820Ser)
c.14455C>T (p.Pro4819Ser)
c.14434C>T (p.Pro4812Ser)
c.14428C>T (p.Pro4810Ser)
c.14422C>T (p.Pro4808Ser)
c.14398C>T (p.Pro4800Ser)
c.14221C>T (p.Pro4741Ser)
c.14365C>T (p.Pro4789Ser)
c.14437C>T (p.Pro4813Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.237809007C>ACA345424472RYR2c.*5497C>A (n.*5497C>A)
c.14387C>A (p.Pro4796Gln)
c.14426C>A (p.Pro4809Gln)
c.6576C>A
c.14405C>A (p.Pro4802Gln)
c.14354C>A (p.Pro4785Gln)
n.916C>A
c.14459C>A (p.Pro4820Gln)
c.14456C>A (p.Pro4819Gln)
c.14435C>A (p.Pro4812Gln)
c.14429C>A (p.Pro4810Gln)
c.14423C>A (p.Pro4808Gln)
c.14399C>A (p.Pro4800Gln)
c.14222C>A (p.Pro4741Gln)
c.14366C>A (p.Pro4789Gln)
c.14438C>A (p.Pro4813Gln)
1g.237809007C=CA2487493407RYR2c.*5497C= (n.*5497C=)
c.14387C= (p.Pro4796=)
c.14426C= (p.Pro4809=)
c.6576C=
c.14405C= (p.Pro4802=)
c.14354C= (p.Pro4785=)
n.916C=
c.14459C= (p.Pro4820=)
c.14456C= (p.Pro4819=)
c.14435C= (p.Pro4812=)
c.14429C= (p.Pro4810=)
c.14423C= (p.Pro4808=)
c.14399C= (p.Pro4800=)
c.14222C= (p.Pro4741=)
c.14366C= (p.Pro4789=)
c.14438C= (p.Pro4813=)
1g.237809007C>GCA345424473RYR2c.*5497C>G (n.*5497C>G)
c.14387C>G (p.Pro4796Arg)
c.14426C>G (p.Pro4809Arg)
c.6576C>G
c.14405C>G (p.Pro4802Arg)
c.14354C>G (p.Pro4785Arg)
n.916C>G
c.14459C>G (p.Pro4820Arg)
c.14456C>G (p.Pro4819Arg)
c.14435C>G (p.Pro4812Arg)
c.14429C>G (p.Pro4810Arg)
c.14423C>G (p.Pro4808Arg)
c.14399C>G (p.Pro4800Arg)
c.14222C>G (p.Pro4741Arg)
c.14366C>G (p.Pro4789Arg)
c.14438C>G (p.Pro4813Arg)
1g.237809007C>TCA345424474RYR2c.*5497C>T (n.*5497C>T)
c.14387C>T (p.Pro4796Leu)
c.14426C>T (p.Pro4809Leu)
c.6576C>T
c.14405C>T (p.Pro4802Leu)
c.14354C>T (p.Pro4785Leu)
n.916C>T
c.14459C>T (p.Pro4820Leu)
c.14456C>T (p.Pro4819Leu)
c.14435C>T (p.Pro4812Leu)
c.14429C>T (p.Pro4810Leu)
c.14423C>T (p.Pro4808Leu)
c.14399C>T (p.Pro4800Leu)
c.14222C>T (p.Pro4741Leu)
c.14366C>T (p.Pro4789Leu)
c.14438C>T (p.Pro4813Leu)
 ClinVar dbSNP gnomAD v4
1g.237809008A=CA2487493408RYR2c.*5498A= (n.*5498A=)
c.14388A= (p.Pro4796=)
c.14427A= (p.Pro4809=)
c.6577A=
c.14406A= (p.Pro4802=)
c.14355A= (p.Pro4785=)
n.917A=
c.14460A= (p.Pro4820=)
c.14457A= (p.Pro4819=)
c.14436A= (p.Pro4812=)
c.14430A= (p.Pro4810=)
c.14424A= (p.Pro4808=)
c.14400A= (p.Pro4800=)
c.14223A= (p.Pro4741=)
c.14367A= (p.Pro4789=)
c.14439A= (p.Pro4813=)
1g.237809008A>CCA424051749RYR2c.*5498A>C (n.*5498A>C)
c.14388A>C (p.Pro4796=)
c.14427A>C (p.Pro4809=)
c.6577A>C
c.14406A>C (p.Pro4802=)
c.14355A>C (p.Pro4785=)
n.917A>C
c.14460A>C (p.Pro4820=)
c.14457A>C (p.Pro4819=)
c.14436A>C (p.Pro4812=)
c.14430A>C (p.Pro4810=)
c.14424A>C (p.Pro4808=)
c.14400A>C (p.Pro4800=)
c.14223A>C (p.Pro4741=)
c.14367A>C (p.Pro4789=)
c.14439A>C (p.Pro4813=)
1g.237809008A>GCA085653RYR2c.*5498A>G (n.*5498A>G)
c.14388A>G (p.Pro4796=)
c.14427A>G (p.Pro4809=)
c.6577A>G
c.14406A>G (p.Pro4802=)
c.14355A>G (p.Pro4785=)
n.917A>G
c.14460A>G (p.Pro4820=)
c.14457A>G (p.Pro4819=)
c.14436A>G (p.Pro4812=)
c.14430A>G (p.Pro4810=)
c.14424A>G (p.Pro4808=)
c.14400A>G (p.Pro4800=)
c.14223A>G (p.Pro4741=)
c.14367A>G (p.Pro4789=)
c.14439A>G (p.Pro4813=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.237809008A>TCA424051750RYR2c.*5498A>T (n.*5498A>T)
c.14388A>T (p.Pro4796=)
c.14427A>T (p.Pro4809=)
c.6577A>T
c.14406A>T (p.Pro4802=)
c.14355A>T (p.Pro4785=)
n.917A>T
c.14460A>T (p.Pro4820=)
c.14457A>T (p.Pro4819=)
c.14436A>T (p.Pro4812=)
c.14430A>T (p.Pro4810=)
c.14424A>T (p.Pro4808=)
c.14400A>T (p.Pro4800=)
c.14223A>T (p.Pro4741=)
c.14367A>T (p.Pro4789=)
c.14439A>T (p.Pro4813=)
1g.237809009G>ACA345424475RYR2c.*5499G>A (n.*5499G>A)
c.14389G>A (p.Asp4797Asn)
c.14428G>A (p.Asp4810Asn)
c.6578G>A
c.14407G>A (p.Asp4803Asn)
c.14356G>A (p.Asp4786Asn)
n.918G>A
c.14461G>A (p.Asp4821Asn)
c.14458G>A (p.Asp4820Asn)
c.14437G>A (p.Asp4813Asn)
c.14431G>A (p.Asp4811Asn)
c.14425G>A (p.Asp4809Asn)
c.14401G>A (p.Asp4801Asn)
c.14224G>A (p.Asp4742Asn)
c.14368G>A (p.Asp4790Asn)
c.14440G>A (p.Asp4814Asn)
1g.237809009G>CCA345424478RYR2c.*5499G>C (n.*5499G>C)
c.14389G>C (p.Asp4797His)
c.14428G>C (p.Asp4810His)
c.6578G>C
c.14407G>C (p.Asp4803His)
c.14356G>C (p.Asp4786His)
n.918G>C
c.14461G>C (p.Asp4821His)
c.14458G>C (p.Asp4820His)
c.14437G>C (p.Asp4813His)
c.14431G>C (p.Asp4811His)
c.14425G>C (p.Asp4809His)
c.14401G>C (p.Asp4801His)
c.14224G>C (p.Asp4742His)
c.14368G>C (p.Asp4790His)
c.14440G>C (p.Asp4814His)
1g.237809009G>TCA345424479RYR2c.*5499G>T (n.*5499G>T)
c.14389G>T (p.Asp4797Tyr)
c.14428G>T (p.Asp4810Tyr)
c.6578G>T
c.14407G>T (p.Asp4803Tyr)
c.14356G>T (p.Asp4786Tyr)
n.918G>T
c.14461G>T (p.Asp4821Tyr)
c.14458G>T (p.Asp4820Tyr)
c.14437G>T (p.Asp4813Tyr)
c.14431G>T (p.Asp4811Tyr)
c.14425G>T (p.Asp4809Tyr)
c.14401G>T (p.Asp4801Tyr)
c.14224G>T (p.Asp4742Tyr)
c.14368G>T (p.Asp4790Tyr)
c.14440G>T (p.Asp4814Tyr)
1g.237809010A>CCA345424481RYR2c.*5500A>C (n.*5500A>C)
c.14390A>C (p.Asp4797Ala)
c.14429A>C (p.Asp4810Ala)
c.6579A>C
c.14408A>C (p.Asp4803Ala)
c.14357A>C (p.Asp4786Ala)
n.919A>C
c.14462A>C (p.Asp4821Ala)
c.14459A>C (p.Asp4820Ala)
c.14438A>C (p.Asp4813Ala)
c.14432A>C (p.Asp4811Ala)
c.14426A>C (p.Asp4809Ala)
c.14402A>C (p.Asp4801Ala)
c.14225A>C (p.Asp4742Ala)
c.14369A>C (p.Asp4790Ala)
c.14441A>C (p.Asp4814Ala)
1g.237809010A>GCA345424482RYR2c.*5500A>G (n.*5500A>G)
c.14390A>G (p.Asp4797Gly)
c.14429A>G (p.Asp4810Gly)
c.6579A>G
c.14408A>G (p.Asp4803Gly)
c.14357A>G (p.Asp4786Gly)
n.919A>G
c.14462A>G (p.Asp4821Gly)
c.14459A>G (p.Asp4820Gly)
c.14438A>G (p.Asp4813Gly)
c.14432A>G (p.Asp4811Gly)
c.14426A>G (p.Asp4809Gly)
c.14402A>G (p.Asp4801Gly)
c.14225A>G (p.Asp4742Gly)
c.14369A>G (p.Asp4790Gly)
c.14441A>G (p.Asp4814Gly)
1g.237809010A>TCA345424483RYR2c.*5500A>T (n.*5500A>T)
c.14390A>T (p.Asp4797Val)
c.14429A>T (p.Asp4810Val)
c.6579A>T
c.14408A>T (p.Asp4803Val)
c.14357A>T (p.Asp4786Val)
n.919A>T
c.14462A>T (p.Asp4821Val)
c.14459A>T (p.Asp4820Val)
c.14438A>T (p.Asp4813Val)
c.14432A>T (p.Asp4811Val)
c.14426A>T (p.Asp4809Val)
c.14402A>T (p.Asp4801Val)
c.14225A>T (p.Asp4742Val)
c.14369A>T (p.Asp4790Val)
c.14441A>T (p.Asp4814Val)
1g.237809011T>ACA345424485RYR2c.*5501T>A (n.*5501T>A)
c.14391T>A (p.Asp4797Glu)
c.14430T>A (p.Asp4810Glu)
c.6580T>A
c.14409T>A (p.Asp4803Glu)
c.14358T>A (p.Asp4786Glu)
n.920T>A
c.14463T>A (p.Asp4821Glu)
c.14460T>A (p.Asp4820Glu)
c.14439T>A (p.Asp4813Glu)
c.14433T>A (p.Asp4811Glu)
c.14427T>A (p.Asp4809Glu)
c.14403T>A (p.Asp4801Glu)
c.14226T>A (p.Asp4742Glu)
c.14370T>A (p.Asp4790Glu)
c.14442T>A (p.Asp4814Glu)
1g.237809011T>CCA16610021RYR2c.*5501T>C (n.*5501T>C)
c.14391T>C (p.Asp4797=)
c.14430T>C (p.Asp4810=)
c.6580T>C
c.14409T>C (p.Asp4803=)
c.14358T>C (p.Asp4786=)
n.920T>C
c.14463T>C (p.Asp4821=)
c.14460T>C (p.Asp4820=)
c.14439T>C (p.Asp4813=)
c.14433T>C (p.Asp4811=)
c.14427T>C (p.Asp4809=)
c.14403T>C (p.Asp4801=)
c.14226T>C (p.Asp4742=)
c.14370T>C (p.Asp4790=)
c.14442T>C (p.Asp4814=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.237809011T>GCA345424489RYR2c.*5501T>G (n.*5501T>G)
c.14391T>G (p.Asp4797Glu)
c.14430T>G (p.Asp4810Glu)
c.6580T>G
c.14409T>G (p.Asp4803Glu)
c.14358T>G (p.Asp4786Glu)
n.920T>G
c.14463T>G (p.Asp4821Glu)
c.14460T>G (p.Asp4820Glu)
c.14439T>G (p.Asp4813Glu)
c.14433T>G (p.Asp4811Glu)
c.14427T>G (p.Asp4809Glu)
c.14403T>G (p.Asp4801Glu)
c.14226T>G (p.Asp4742Glu)
c.14370T>G (p.Asp4790Glu)
c.14442T>G (p.Asp4814Glu)
1g.237809011T=CA2487493409RYR2c.*5501T= (n.*5501T=)
c.14391T= (p.Asp4797=)
c.14430T= (p.Asp4810=)
c.6580T=
c.14409T= (p.Asp4803=)
c.14358T= (p.Asp4786=)
n.920T=
c.14463T= (p.Asp4821=)
c.14460T= (p.Asp4820=)
c.14439T= (p.Asp4813=)
c.14433T= (p.Asp4811=)
c.14427T= (p.Asp4809=)
c.14403T= (p.Asp4801=)
c.14226T= (p.Asp4742=)
c.14370T= (p.Asp4790=)
c.14442T= (p.Asp4814=)
1g.237809012A>CCA345424497RYR2c.*5502A>C (n.*5502A>C)
c.14392A>C (p.Met4798Leu)
c.14431A>C (p.Met4811Leu)
c.6581A>C
c.14410A>C (p.Met4804Leu)
c.14359A>C (p.Met4787Leu)
n.921A>C
c.14464A>C (p.Met4822Leu)
c.14461A>C (p.Met4821Leu)
c.14440A>C (p.Met4814Leu)
c.14434A>C (p.Met4812Leu)
c.14428A>C (p.Met4810Leu)
c.14404A>C (p.Met4802Leu)
c.14227A>C (p.Met4743Leu)
c.14371A>C (p.Met4791Leu)
c.14443A>C (p.Met4815Leu)
1g.237809012A>GCA345424494RYR2c.*5502A>G (n.*5502A>G)
c.14392A>G (p.Met4798Val)
c.14431A>G (p.Met4811Val)
c.6581A>G
c.14410A>G (p.Met4804Val)
c.14359A>G (p.Met4787Val)
n.921A>G
c.14464A>G (p.Met4822Val)
c.14461A>G (p.Met4821Val)
c.14440A>G (p.Met4814Val)
c.14434A>G (p.Met4812Val)
c.14428A>G (p.Met4810Val)
c.14404A>G (p.Met4802Val)
c.14227A>G (p.Met4743Val)
c.14371A>G (p.Met4791Val)
c.14443A>G (p.Met4815Val)
1g.237809012A>TCA345424496RYR2c.*5502A>T (n.*5502A>T)
c.14392A>T (p.Met4798Leu)
c.14431A>T (p.Met4811Leu)
c.6581A>T
c.14410A>T (p.Met4804Leu)
c.14359A>T (p.Met4787Leu)
n.921A>T
c.14464A>T (p.Met4822Leu)
c.14461A>T (p.Met4821Leu)
c.14440A>T (p.Met4814Leu)
c.14434A>T (p.Met4812Leu)
c.14428A>T (p.Met4810Leu)
c.14404A>T (p.Met4802Leu)
c.14227A>T (p.Met4743Leu)
c.14371A>T (p.Met4791Leu)
c.14443A>T (p.Met4815Leu)
1g.237809013T>ACA345424498RYR2c.*5503T>A (n.*5503T>A)
c.14393T>A (p.Met4798Lys)
c.14432T>A (p.Met4811Lys)
c.6582T>A
c.14411T>A (p.Met4804Lys)
c.14360T>A (p.Met4787Lys)
n.922T>A
c.14465T>A (p.Met4822Lys)
c.14462T>A (p.Met4821Lys)
c.14441T>A (p.Met4814Lys)
c.14435T>A (p.Met4812Lys)
c.14429T>A (p.Met4810Lys)
c.14405T>A (p.Met4802Lys)
c.14228T>A (p.Met4743Lys)
c.14372T>A (p.Met4791Lys)
c.14444T>A (p.Met4815Lys)
1g.237809013T>CCA345424499RYR2c.*5503T>C (n.*5503T>C)
c.14393T>C (p.Met4798Thr)
c.14432T>C (p.Met4811Thr)
c.6582T>C
c.14411T>C (p.Met4804Thr)
c.14360T>C (p.Met4787Thr)
n.922T>C
c.14465T>C (p.Met4822Thr)
c.14462T>C (p.Met4821Thr)
c.14441T>C (p.Met4814Thr)
c.14435T>C (p.Met4812Thr)
c.14429T>C (p.Met4810Thr)
c.14405T>C (p.Met4802Thr)
c.14228T>C (p.Met4743Thr)
c.14372T>C (p.Met4791Thr)
c.14444T>C (p.Met4815Thr)
 dbSNP
1g.237809013T>GCA345424500RYR2c.*5503T>G (n.*5503T>G)
c.14393T>G (p.Met4798Arg)
c.14432T>G (p.Met4811Arg)
c.6582T>G
c.14411T>G (p.Met4804Arg)
c.14360T>G (p.Met4787Arg)
n.922T>G
c.14465T>G (p.Met4822Arg)
c.14462T>G (p.Met4821Arg)
c.14441T>G (p.Met4814Arg)
c.14435T>G (p.Met4812Arg)
c.14429T>G (p.Met4810Arg)
c.14405T>G (p.Met4802Arg)
c.14228T>G (p.Met4743Arg)
c.14372T>G (p.Met4791Arg)
c.14444T>G (p.Met4815Arg)
 gnomAD v4
1g.237809013T=CA2487493410RYR2c.*5503T= (n.*5503T=)
c.14393T= (p.Met4798=)
c.14432T= (p.Met4811=)
c.6582T=
c.14411T= (p.Met4804=)
c.14360T= (p.Met4787=)
n.922T=
c.14465T= (p.Met4822=)
c.14462T= (p.Met4821=)
c.14441T= (p.Met4814=)
c.14435T= (p.Met4812=)
c.14429T= (p.Met4810=)
c.14405T= (p.Met4802=)
c.14228T= (p.Met4743=)
c.14372T= (p.Met4791=)
c.14444T= (p.Met4815=)
1g.237809014G>ACA345424502RYR2c.*5504G>A (n.*5504G>A)
c.14394G>A (p.Met4798Ile)
c.14433G>A (p.Met4811Ile)
c.6583G>A
c.14412G>A (p.Met4804Ile)
c.14361G>A (p.Met4787Ile)
n.923G>A
c.14466G>A (p.Met4822Ile)
c.14463G>A (p.Met4821Ile)
c.14442G>A (p.Met4814Ile)
c.14436G>A (p.Met4812Ile)
c.14430G>A (p.Met4810Ile)
c.14406G>A (p.Met4802Ile)
c.14229G>A (p.Met4743Ile)
c.14373G>A (p.Met4791Ile)
c.14445G>A (p.Met4815Ile)
1g.237809014G>CCA345424503RYR2c.*5504G>C (n.*5504G>C)
c.14394G>C (p.Met4798Ile)
c.14433G>C (p.Met4811Ile)
c.6583G>C
c.14412G>C (p.Met4804Ile)
c.14361G>C (p.Met4787Ile)
n.923G>C
c.14466G>C (p.Met4822Ile)
c.14463G>C (p.Met4821Ile)
c.14442G>C (p.Met4814Ile)
c.14436G>C (p.Met4812Ile)
c.14430G>C (p.Met4810Ile)
c.14406G>C (p.Met4802Ile)
c.14229G>C (p.Met4743Ile)
c.14373G>C (p.Met4791Ile)
c.14445G>C (p.Met4815Ile)
1g.237809014G>TCA345424505RYR2c.*5504G>T (n.*5504G>T)
c.14394G>T (p.Met4798Ile)
c.14433G>T (p.Met4811Ile)
c.6583G>T
c.14412G>T (p.Met4804Ile)
c.14361G>T (p.Met4787Ile)
n.923G>T
c.14466G>T (p.Met4822Ile)
c.14463G>T (p.Met4821Ile)
c.14442G>T (p.Met4814Ile)
c.14436G>T (p.Met4812Ile)
c.14430G>T (p.Met4810Ile)
c.14406G>T (p.Met4802Ile)
c.14229G>T (p.Met4743Ile)
c.14373G>T (p.Met4791Ile)
c.14445G>T (p.Met4815Ile)
1g.237809015A>CCA345424507RYR2c.*5505A>C (n.*5505A>C)
c.14395A>C (p.Lys4799Gln)
c.14434A>C (p.Lys4812Gln)
c.6584A>C
c.14413A>C (p.Lys4805Gln)
c.14362A>C (p.Lys4788Gln)
n.924A>C
c.14467A>C (p.Lys4823Gln)
c.14464A>C (p.Lys4822Gln)
c.14443A>C (p.Lys4815Gln)
c.14437A>C (p.Lys4813Gln)
c.14431A>C (p.Lys4811Gln)
c.14407A>C (p.Lys4803Gln)
c.14230A>C (p.Lys4744Gln)
c.14374A>C (p.Lys4792Gln)
c.14446A>C (p.Lys4816Gln)
1g.237809015A>GCA068327RYR2c.*5505A>G (n.*5505A>G)
c.14395A>G (p.Lys4799Glu)
c.14434A>G (p.Lys4812Glu)
c.6584A>G
c.14413A>G (p.Lys4805Glu)
c.14362A>G (p.Lys4788Glu)
n.924A>G
c.14467A>G (p.Lys4823Glu)
c.14464A>G (p.Lys4822Glu)
c.14443A>G (p.Lys4815Glu)
c.14437A>G (p.Lys4813Glu)
c.14431A>G (p.Lys4811Glu)
c.14407A>G (p.Lys4803Glu)
c.14230A>G (p.Lys4744Glu)
c.14374A>G (p.Lys4792Glu)
c.14446A>G (p.Lys4816Glu)
1g.237809015A>TCA345424509RYR2c.*5505A>T (n.*5505A>T)
c.14395A>T (p.Lys4799Ter)
c.14434A>T (p.Lys4812Ter)
c.6584A>T
c.14413A>T (p.Lys4805Ter)
c.14362A>T (p.Lys4788Ter)
n.924A>T
c.14467A>T (p.Lys4823Ter)
c.14464A>T (p.Lys4822Ter)
c.14443A>T (p.Lys4815Ter)
c.14437A>T (p.Lys4813Ter)
c.14431A>T (p.Lys4811Ter)
c.14407A>T (p.Lys4803Ter)
c.14230A>T (p.Lys4744Ter)
c.14374A>T (p.Lys4792Ter)
c.14446A>T (p.Lys4816Ter)
1g.237809016A=CA2487493411RYR2c.*5506A= (n.*5506A=)
c.14396A= (p.Lys4799=)
c.14435A= (p.Lys4812=)
c.6585A=
c.14414A= (p.Lys4805=)
c.14363A= (p.Lys4788=)
n.925A=
c.14468A= (p.Lys4823=)
c.14465A= (p.Lys4822=)
c.14444A= (p.Lys4815=)
c.14438A= (p.Lys4813=)
c.14432A= (p.Lys4811=)
c.14408A= (p.Lys4803=)
c.14231A= (p.Lys4744=)
c.14375A= (p.Lys4792=)
c.14447A= (p.Lys4816=)
1g.237809016A>CCA345424511RYR2c.*5506A>C (n.*5506A>C)
c.14396A>C (p.Lys4799Thr)
c.14435A>C (p.Lys4812Thr)
c.6585A>C
c.14414A>C (p.Lys4805Thr)
c.14363A>C (p.Lys4788Thr)
n.925A>C
c.14468A>C (p.Lys4823Thr)
c.14465A>C (p.Lys4822Thr)
c.14444A>C (p.Lys4815Thr)
c.14438A>C (p.Lys4813Thr)
c.14432A>C (p.Lys4811Thr)
c.14408A>C (p.Lys4803Thr)
c.14231A>C (p.Lys4744Thr)
c.14375A>C (p.Lys4792Thr)
c.14447A>C (p.Lys4816Thr)
1g.237809016A>GCA345424512RYR2c.*5506A>G (n.*5506A>G)
c.14396A>G (p.Lys4799Arg)
c.14435A>G (p.Lys4812Arg)
c.6585A>G
c.14414A>G (p.Lys4805Arg)
c.14363A>G (p.Lys4788Arg)
n.925A>G
c.14468A>G (p.Lys4823Arg)
c.14465A>G (p.Lys4822Arg)
c.14444A>G (p.Lys4815Arg)
c.14438A>G (p.Lys4813Arg)
c.14432A>G (p.Lys4811Arg)
c.14408A>G (p.Lys4803Arg)
c.14231A>G (p.Lys4744Arg)
c.14375A>G (p.Lys4792Arg)
c.14447A>G (p.Lys4816Arg)
 ClinVar dbSNP
1g.237809016A>TCA345424513RYR2c.*5506A>T (n.*5506A>T)
c.14396A>T (p.Lys4799Ile)
c.14435A>T (p.Lys4812Ile)
c.6585A>T
c.14414A>T (p.Lys4805Ile)
c.14363A>T (p.Lys4788Ile)
n.925A>T
c.14468A>T (p.Lys4823Ile)
c.14465A>T (p.Lys4822Ile)
c.14444A>T (p.Lys4815Ile)
c.14438A>T (p.Lys4813Ile)
c.14432A>T (p.Lys4811Ile)
c.14408A>T (p.Lys4803Ile)
c.14231A>T (p.Lys4744Ile)
c.14375A>T (p.Lys4792Ile)
c.14447A>T (p.Lys4816Ile)
1g.237809017A=CA1144229294RYR2c.*5507A= (n.*5507A=)
c.14397A= (p.Lys4799=)
c.14436A= (p.Lys4812=)
c.6586A=
c.14415A= (p.Lys4805=)
c.14364A= (p.Lys4788=)
n.926A=
c.14469A= (p.Lys4823=)
c.14466A= (p.Lys4822=)
c.14445A= (p.Lys4815=)
c.14439A= (p.Lys4813=)
c.14433A= (p.Lys4811=)
c.14409A= (p.Lys4803=)
c.14232A= (p.Lys4744=)
c.14376A= (p.Lys4792=)
c.14448A= (p.Lys4816=)
1g.237809017A>CCA345424514RYR2c.*5507A>C (n.*5507A>C)
c.14397A>C (p.Lys4799Asn)
c.14436A>C (p.Lys4812Asn)
c.6586A>C
c.14415A>C (p.Lys4805Asn)
c.14364A>C (p.Lys4788Asn)
n.926A>C
c.14469A>C (p.Lys4823Asn)
c.14466A>C (p.Lys4822Asn)
c.14445A>C (p.Lys4815Asn)
c.14439A>C (p.Lys4813Asn)
c.14433A>C (p.Lys4811Asn)
c.14409A>C (p.Lys4803Asn)
c.14232A>C (p.Lys4744Asn)
c.14376A>C (p.Lys4792Asn)
c.14448A>C (p.Lys4816Asn)
1g.237809017A>GCA008235RYR2c.*5507A>G (n.*5507A>G)
c.14397A>G (p.Lys4799=)
c.14436A>G (p.Lys4812=)
c.6586A>G
c.14415A>G (p.Lys4805=)
c.14364A>G (p.Lys4788=)
n.926A>G
c.14469A>G (p.Lys4823=)
c.14466A>G (p.Lys4822=)
c.14445A>G (p.Lys4815=)
c.14439A>G (p.Lys4813=)
c.14433A>G (p.Lys4811=)
c.14409A>G (p.Lys4803=)
c.14232A>G (p.Lys4744=)
c.14376A>G (p.Lys4792=)
c.14448A>G (p.Lys4816=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.237809017A>TCA345424516RYR2c.*5507A>T (n.*5507A>T)
c.14397A>T (p.Lys4799Asn)
c.14436A>T (p.Lys4812Asn)
c.6586A>T
c.14415A>T (p.Lys4805Asn)
c.14364A>T (p.Lys4788Asn)
n.926A>T
c.14469A>T (p.Lys4823Asn)
c.14466A>T (p.Lys4822Asn)
c.14445A>T (p.Lys4815Asn)
c.14439A>T (p.Lys4813Asn)
c.14433A>T (p.Lys4811Asn)
c.14409A>T (p.Lys4803Asn)
c.14232A>T (p.Lys4744Asn)
c.14376A>T (p.Lys4792Asn)
c.14448A>T (p.Lys4816Asn)
1g.237809018T>ACA345424523RYR2c.*5508T>A (n.*5508T>A)
c.14398T>A (p.Cys4800Ser)
c.14437T>A (p.Cys4813Ser)
c.6587T>A
c.14416T>A (p.Cys4806Ser)
c.14365T>A (p.Cys4789Ser)
n.927T>A
c.14470T>A (p.Cys4824Ser)
c.14467T>A (p.Cys4823Ser)
c.14446T>A (p.Cys4816Ser)
c.14440T>A (p.Cys4814Ser)
c.14434T>A (p.Cys4812Ser)
c.14410T>A (p.Cys4804Ser)
c.14233T>A (p.Cys4745Ser)
c.14377T>A (p.Cys4793Ser)
c.14449T>A (p.Cys4817Ser)
1g.237809018T>CCA345424527RYR2c.*5508T>C (n.*5508T>C)
c.14398T>C (p.Cys4800Arg)
c.14437T>C (p.Cys4813Arg)
c.6587T>C
c.14416T>C (p.Cys4806Arg)
c.14365T>C (p.Cys4789Arg)
n.927T>C
c.14470T>C (p.Cys4824Arg)
c.14467T>C (p.Cys4823Arg)
c.14446T>C (p.Cys4816Arg)
c.14440T>C (p.Cys4814Arg)
c.14434T>C (p.Cys4812Arg)
c.14410T>C (p.Cys4804Arg)
c.14233T>C (p.Cys4745Arg)
c.14377T>C (p.Cys4793Arg)
c.14449T>C (p.Cys4817Arg)
1g.237809018T>GCA345424525RYR2c.*5508T>G (n.*5508T>G)
c.14398T>G (p.Cys4800Gly)
c.14437T>G (p.Cys4813Gly)
c.6587T>G
c.14416T>G (p.Cys4806Gly)
c.14365T>G (p.Cys4789Gly)
n.927T>G
c.14470T>G (p.Cys4824Gly)
c.14467T>G (p.Cys4823Gly)
c.14446T>G (p.Cys4816Gly)
c.14440T>G (p.Cys4814Gly)
c.14434T>G (p.Cys4812Gly)
c.14410T>G (p.Cys4804Gly)
c.14233T>G (p.Cys4745Gly)
c.14377T>G (p.Cys4793Gly)
c.14449T>G (p.Cys4817Gly)
1g.237809019G>ACA345424529RYR2c.*5509G>A (n.*5509G>A)
c.14399G>A (p.Cys4800Tyr)
c.14438G>A (p.Cys4813Tyr)
c.6588G>A
c.14417G>A (p.Cys4806Tyr)
c.14366G>A (p.Cys4789Tyr)
n.928G>A
c.14471G>A (p.Cys4824Tyr)
c.14468G>A (p.Cys4823Tyr)
c.14447G>A (p.Cys4816Tyr)
c.14441G>A (p.Cys4814Tyr)
c.14435G>A (p.Cys4812Tyr)
c.14411G>A (p.Cys4804Tyr)
c.14234G>A (p.Cys4745Tyr)
c.14378G>A (p.Cys4793Tyr)
c.14450G>A (p.Cys4817Tyr)
 dbSNP COSMIC COSMIC
1g.237809019G>CCA345424535RYR2c.*5509G>C (n.*5509G>C)
c.14399G>C (p.Cys4800Ser)
c.14438G>C (p.Cys4813Ser)
c.6588G>C
c.14417G>C (p.Cys4806Ser)
c.14366G>C (p.Cys4789Ser)
n.928G>C
c.14471G>C (p.Cys4824Ser)
c.14468G>C (p.Cys4823Ser)
c.14447G>C (p.Cys4816Ser)
c.14441G>C (p.Cys4814Ser)
c.14435G>C (p.Cys4812Ser)
c.14411G>C (p.Cys4804Ser)
c.14234G>C (p.Cys4745Ser)
c.14378G>C (p.Cys4793Ser)
c.14450G>C (p.Cys4817Ser)
1g.237809019G=CA2487493412RYR2c.*5509G= (n.*5509G=)
c.14399G= (p.Cys4800=)
c.14438G= (p.Cys4813=)
c.6588G=
c.14417G= (p.Cys4806=)
c.14366G= (p.Cys4789=)
n.928G=
c.14471G= (p.Cys4824=)
c.14468G= (p.Cys4823=)
c.14447G= (p.Cys4816=)
c.14441G= (p.Cys4814=)
c.14435G= (p.Cys4812=)
c.14411G= (p.Cys4804=)
c.14234G= (p.Cys4745=)
c.14378G= (p.Cys4793=)
c.14450G= (p.Cys4817=)
1g.237809019G>TCA345424537RYR2c.*5509G>T (n.*5509G>T)
c.14399G>T (p.Cys4800Phe)
c.14438G>T (p.Cys4813Phe)
c.6588G>T
c.14417G>T (p.Cys4806Phe)
c.14366G>T (p.Cys4789Phe)
n.928G>T
c.14471G>T (p.Cys4824Phe)
c.14468G>T (p.Cys4823Phe)
c.14447G>T (p.Cys4816Phe)
c.14441G>T (p.Cys4814Phe)
c.14435G>T (p.Cys4812Phe)
c.14411G>T (p.Cys4804Phe)
c.14234G>T (p.Cys4745Phe)
c.14378G>T (p.Cys4793Phe)
c.14450G>T (p.Cys4817Phe)
1g.237809020delCA2651216738RYR2c.*5510del (n.*5510del)
c.14400del (p.Cys4800TrpfsTer5)
c.14439del (p.Cys4813TrpfsTer5)
c.6589del
c.14418del (p.Cys4806TrpfsTer5)
c.14367del (p.Cys4789TrpfsTer5)
n.929del
c.14472del (p.Cys4824TrpfsTer5)
c.14469del (p.Cys4823TrpfsTer5)
c.14448del (p.Cys4816TrpfsTer5)
c.14442del (p.Cys4814TrpfsTer5)
c.14436del (p.Cys4812TrpfsTer5)
c.14412del (p.Cys4804TrpfsTer5)
c.14235del (p.Cys4745TrpfsTer5)
c.14379del (p.Cys4793TrpfsTer5)
c.14451del (p.Cys4817TrpfsTer5)
 gnomAD v4
1g.237809020T>ACA345424539RYR2c.*5510T>A (n.*5510T>A)
c.14400T>A (p.Cys4800Ter)
c.14439T>A (p.Cys4813Ter)
c.6589T>A
c.14418T>A (p.Cys4806Ter)
c.14367T>A (p.Cys4789Ter)
n.929T>A
c.14472T>A (p.Cys4824Ter)
c.14469T>A (p.Cys4823Ter)
c.14448T>A (p.Cys4816Ter)
c.14442T>A (p.Cys4814Ter)
c.14436T>A (p.Cys4812Ter)
c.14412T>A (p.Cys4804Ter)
c.14235T>A (p.Cys4745Ter)
c.14379T>A (p.Cys4793Ter)
c.14451T>A (p.Cys4817Ter)
1g.237809020T>CCA424051751RYR2c.*5510T>C (n.*5510T>C)
c.14400T>C (p.Cys4800=)
c.14439T>C (p.Cys4813=)
c.6589T>C
c.14418T>C (p.Cys4806=)
c.14367T>C (p.Cys4789=)
n.929T>C
c.14472T>C (p.Cys4824=)
c.14469T>C (p.Cys4823=)
c.14448T>C (p.Cys4816=)
c.14442T>C (p.Cys4814=)
c.14436T>C (p.Cys4812=)
c.14412T>C (p.Cys4804=)
c.14235T>C (p.Cys4745=)
c.14379T>C (p.Cys4793=)
c.14451T>C (p.Cys4817=)
1g.237809020T>GCA345424541RYR2c.*5510T>G (n.*5510T>G)
c.14400T>G (p.Cys4800Trp)
c.14439T>G (p.Cys4813Trp)
c.6589T>G
c.14418T>G (p.Cys4806Trp)
c.14367T>G (p.Cys4789Trp)
n.929T>G
c.14472T>G (p.Cys4824Trp)
c.14469T>G (p.Cys4823Trp)
c.14448T>G (p.Cys4816Trp)
c.14442T>G (p.Cys4814Trp)
c.14436T>G (p.Cys4812Trp)
c.14412T>G (p.Cys4804Trp)
c.14235T>G (p.Cys4745Trp)
c.14379T>G (p.Cys4793Trp)
c.14451T>G (p.Cys4817Trp)
1g.237809021G>ACA345424544RYR2c.*5511G>A (n.*5511G>A)
c.14401G>A (p.Asp4801Asn)
c.14440G>A (p.Asp4814Asn)
c.6590G>A
c.14419G>A (p.Asp4807Asn)
c.14368G>A (p.Asp4790Asn)
n.930G>A
c.14473G>A (p.Asp4825Asn)
c.14470G>A (p.Asp4824Asn)
c.14449G>A (p.Asp4817Asn)
c.14443G>A (p.Asp4815Asn)
c.14437G>A (p.Asp4813Asn)
c.14413G>A (p.Asp4805Asn)
c.14236G>A (p.Asp4746Asn)
c.14380G>A (p.Asp4794Asn)
c.14452G>A (p.Asp4818Asn)
1g.237809021G>CCA345424545RYR2c.*5511G>C (n.*5511G>C)
c.14401G>C (p.Asp4801His)
c.14440G>C (p.Asp4814His)
c.6590G>C
c.14419G>C (p.Asp4807His)
c.14368G>C (p.Asp4790His)
n.930G>C
c.14473G>C (p.Asp4825His)
c.14470G>C (p.Asp4824His)
c.14449G>C (p.Asp4817His)
c.14443G>C (p.Asp4815His)
c.14437G>C (p.Asp4813His)
c.14413G>C (p.Asp4805His)
c.14236G>C (p.Asp4746His)
c.14380G>C (p.Asp4794His)
c.14452G>C (p.Asp4818His)
1g.237809021G>TCA345424548RYR2c.*5511G>T (n.*5511G>T)
c.14401G>T (p.Asp4801Tyr)
c.14440G>T (p.Asp4814Tyr)
c.6590G>T
c.14419G>T (p.Asp4807Tyr)
c.14368G>T (p.Asp4790Tyr)
n.930G>T
c.14473G>T (p.Asp4825Tyr)
c.14470G>T (p.Asp4824Tyr)
c.14449G>T (p.Asp4817Tyr)
c.14443G>T (p.Asp4815Tyr)
c.14437G>T (p.Asp4813Tyr)
c.14413G>T (p.Asp4805Tyr)
c.14236G>T (p.Asp4746Tyr)
c.14380G>T (p.Asp4794Tyr)
c.14452G>T (p.Asp4818Tyr)
1g.237809022A>CCA345424550RYR2c.*5512A>C (n.*5512A>C)
c.14402A>C (p.Asp4801Ala)
c.14441A>C (p.Asp4814Ala)
c.6591A>C
c.14420A>C (p.Asp4807Ala)
c.14369A>C (p.Asp4790Ala)
n.931A>C
c.14474A>C (p.Asp4825Ala)
c.14471A>C (p.Asp4824Ala)
c.14450A>C (p.Asp4817Ala)
c.14444A>C (p.Asp4815Ala)
c.14438A>C (p.Asp4813Ala)
c.14414A>C (p.Asp4805Ala)
c.14237A>C (p.Asp4746Ala)
c.14381A>C (p.Asp4794Ala)
c.14453A>C (p.Asp4818Ala)
1g.237809022A>GCA345424551RYR2c.*5512A>G (n.*5512A>G)
c.14402A>G (p.Asp4801Gly)
c.14441A>G (p.Asp4814Gly)
c.6591A>G
c.14420A>G (p.Asp4807Gly)
c.14369A>G (p.Asp4790Gly)
n.931A>G
c.14474A>G (p.Asp4825Gly)
c.14471A>G (p.Asp4824Gly)
c.14450A>G (p.Asp4817Gly)
c.14444A>G (p.Asp4815Gly)
c.14438A>G (p.Asp4813Gly)
c.14414A>G (p.Asp4805Gly)
c.14237A>G (p.Asp4746Gly)
c.14381A>G (p.Asp4794Gly)
c.14453A>G (p.Asp4818Gly)
1g.237809022A>TCA345424554RYR2c.*5512A>T (n.*5512A>T)
c.14402A>T (p.Asp4801Val)
c.14441A>T (p.Asp4814Val)
c.6591A>T
c.14420A>T (p.Asp4807Val)
c.14369A>T (p.Asp4790Val)
n.931A>T
c.14474A>T (p.Asp4825Val)
c.14471A>T (p.Asp4824Val)
c.14450A>T (p.Asp4817Val)
c.14444A>T (p.Asp4815Val)
c.14438A>T (p.Asp4813Val)
c.14414A>T (p.Asp4805Val)
c.14237A>T (p.Asp4746Val)
c.14381A>T (p.Asp4794Val)
c.14453A>T (p.Asp4818Val)
1g.237809023C>ACA345424558RYR2c.*5513C>A (n.*5513C>A)
c.14403C>A (p.Asp4801Glu)
c.14442C>A (p.Asp4814Glu)
c.6592C>A
c.14421C>A (p.Asp4807Glu)
c.14370C>A (p.Asp4790Glu)
n.932C>A
c.14475C>A (p.Asp4825Glu)
c.14472C>A (p.Asp4824Glu)
c.14451C>A (p.Asp4817Glu)
c.14445C>A (p.Asp4815Glu)
c.14439C>A (p.Asp4813Glu)
c.14415C>A (p.Asp4805Glu)
c.14238C>A (p.Asp4746Glu)
c.14382C>A (p.Asp4794Glu)
c.14454C>A (p.Asp4818Glu)
1g.237809023C=CA1140931691RYR2c.*5513C= (n.*5513C=)
c.14403C= (p.Asp4801=)
c.14442C= (p.Asp4814=)
c.6592C=
c.14421C= (p.Asp4807=)
c.14370C= (p.Asp4790=)
n.932C=
c.14475C= (p.Asp4825=)
c.14472C= (p.Asp4824=)
c.14451C= (p.Asp4817=)
c.14445C= (p.Asp4815=)
c.14439C= (p.Asp4813=)
c.14415C= (p.Asp4805=)
c.14238C= (p.Asp4746=)
c.14382C= (p.Asp4794=)
c.14454C= (p.Asp4818=)
1g.237809023C>GCA345424557RYR2c.*5513C>G (n.*5513C>G)
c.14403C>G (p.Asp4801Glu)
c.14442C>G (p.Asp4814Glu)
c.6592C>G
c.14421C>G (p.Asp4807Glu)
c.14370C>G (p.Asp4790Glu)
n.932C>G
c.14475C>G (p.Asp4825Glu)
c.14472C>G (p.Asp4824Glu)
c.14451C>G (p.Asp4817Glu)
c.14445C>G (p.Asp4815Glu)
c.14439C>G (p.Asp4813Glu)
c.14415C>G (p.Asp4805Glu)
c.14238C>G (p.Asp4746Glu)
c.14382C>G (p.Asp4794Glu)
c.14454C>G (p.Asp4818Glu)
1g.237809023C>TCA008243RYR2c.*5513C>T (n.*5513C>T)
c.14403C>T (p.Asp4801=)
c.14442C>T (p.Asp4814=)
c.6592C>T
c.14421C>T (p.Asp4807=)
c.14370C>T (p.Asp4790=)
n.932C>T
c.14475C>T (p.Asp4825=)
c.14472C>T (p.Asp4824=)
c.14451C>T (p.Asp4817=)
c.14445C>T (p.Asp4815=)
c.14439C>T (p.Asp4813=)
c.14415C>T (p.Asp4805=)
c.14238C>T (p.Asp4746=)
c.14382C>T (p.Asp4794=)
c.14454C>T (p.Asp4818=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.237809024G>ACA085654RYR2c.*5514G>A (n.*5514G>A)
c.14404G>A (p.Asp4802Asn)
c.14443G>A (p.Asp4815Asn)
c.6593G>A
c.14422G>A (p.Asp4808Asn)
c.14371G>A (p.Asp4791Asn)
n.933G>A
c.14476G>A (p.Asp4826Asn)
c.14473G>A (p.Asp4825Asn)
c.14452G>A (p.Asp4818Asn)
c.14446G>A (p.Asp4816Asn)
c.14440G>A (p.Asp4814Asn)
c.14416G>A (p.Asp4806Asn)
c.14239G>A (p.Asp4747Asn)
c.14383G>A (p.Asp4795Asn)
c.14455G>A (p.Asp4819Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.237809024G>CCA345424561RYR2c.*5514G>C (n.*5514G>C)
c.14404G>C (p.Asp4802His)
c.14443G>C (p.Asp4815His)
c.6593G>C
c.14422G>C (p.Asp4808His)
c.14371G>C (p.Asp4791His)
n.933G>C
c.14476G>C (p.Asp4826His)
c.14473G>C (p.Asp4825His)
c.14452G>C (p.Asp4818His)
c.14446G>C (p.Asp4816His)
c.14440G>C (p.Asp4814His)
c.14416G>C (p.Asp4806His)
c.14239G>C (p.Asp4747His)
c.14383G>C (p.Asp4795His)
c.14455G>C (p.Asp4819His)
1g.237809024G=CA2487493413RYR2c.*5514G= (n.*5514G=)
c.14404G= (p.Asp4802=)
c.14443G= (p.Asp4815=)
c.6593G=
c.14422G= (p.Asp4808=)
c.14371G= (p.Asp4791=)
n.933G=
c.14476G= (p.Asp4826=)
c.14473G= (p.Asp4825=)
c.14452G= (p.Asp4818=)
c.14446G= (p.Asp4816=)
c.14440G= (p.Asp4814=)
c.14416G= (p.Asp4806=)
c.14239G= (p.Asp4747=)
c.14383G= (p.Asp4795=)
c.14455G= (p.Asp4819=)
1g.237809024G>TCA345424562RYR2c.*5514G>T (n.*5514G>T)
c.14404G>T (p.Asp4802Tyr)
c.14443G>T (p.Asp4815Tyr)
c.6593G>T
c.14422G>T (p.Asp4808Tyr)
c.14371G>T (p.Asp4791Tyr)
n.933G>T
c.14476G>T (p.Asp4826Tyr)
c.14473G>T (p.Asp4825Tyr)
c.14452G>T (p.Asp4818Tyr)
c.14446G>T (p.Asp4816Tyr)
c.14440G>T (p.Asp4814Tyr)
c.14416G>T (p.Asp4806Tyr)
c.14239G>T (p.Asp4747Tyr)
c.14383G>T (p.Asp4795Tyr)
c.14455G>T (p.Asp4819Tyr)
 COSMIC
1g.237809025A>CCA345424564RYR2c.*5515A>C (n.*5515A>C)
c.14405A>C (p.Asp4802Ala)
c.14444A>C (p.Asp4815Ala)
c.6594A>C
c.14423A>C (p.Asp4808Ala)
c.14372A>C (p.Asp4791Ala)
n.934A>C
c.14477A>C (p.Asp4826Ala)
c.14474A>C (p.Asp4825Ala)
c.14453A>C (p.Asp4818Ala)
c.14447A>C (p.Asp4816Ala)
c.14441A>C (p.Asp4814Ala)
c.14417A>C (p.Asp4806Ala)
c.14240A>C (p.Asp4747Ala)
c.14384A>C (p.Asp4795Ala)
c.14456A>C (p.Asp4819Ala)
1g.237809025A>GCA345424566RYR2c.*5515A>G (n.*5515A>G)
c.14405A>G (p.Asp4802Gly)
c.14444A>G (p.Asp4815Gly)
c.6594A>G
c.14423A>G (p.Asp4808Gly)
c.14372A>G (p.Asp4791Gly)
n.934A>G
c.14477A>G (p.Asp4826Gly)
c.14474A>G (p.Asp4825Gly)
c.14453A>G (p.Asp4818Gly)
c.14447A>G (p.Asp4816Gly)
c.14441A>G (p.Asp4814Gly)
c.14417A>G (p.Asp4806Gly)
c.14240A>G (p.Asp4747Gly)
c.14384A>G (p.Asp4795Gly)
c.14456A>G (p.Asp4819Gly)
 gnomAD v4
1g.237809025A>TCA345424568RYR2c.*5515A>T (n.*5515A>T)
c.14405A>T (p.Asp4802Val)
c.14444A>T (p.Asp4815Val)
c.6594A>T
c.14423A>T (p.Asp4808Val)
c.14372A>T (p.Asp4791Val)
n.934A>T
c.14477A>T (p.Asp4826Val)
c.14474A>T (p.Asp4825Val)
c.14453A>T (p.Asp4818Val)
c.14447A>T (p.Asp4816Val)
c.14441A>T (p.Asp4814Val)
c.14417A>T (p.Asp4806Val)
c.14240A>T (p.Asp4747Val)
c.14384A>T (p.Asp4795Val)
c.14456A>T (p.Asp4819Val)
1g.237809026T>ACA345424569RYR2c.*5516T>A (n.*5516T>A)
c.14406T>A (p.Asp4802Glu)
c.14445T>A (p.Asp4815Glu)
c.6595T>A
c.14424T>A (p.Asp4808Glu)
c.14373T>A (p.Asp4791Glu)
n.935T>A
c.14478T>A (p.Asp4826Glu)
c.14475T>A (p.Asp4825Glu)
c.14454T>A (p.Asp4818Glu)
c.14448T>A (p.Asp4816Glu)
c.14442T>A (p.Asp4814Glu)
c.14418T>A (p.Asp4806Glu)
c.14241T>A (p.Asp4747Glu)
c.14385T>A (p.Asp4795Glu)
c.14457T>A (p.Asp4819Glu)
1g.237809026T>CCA424051752RYR2c.*5516T>C (n.*5516T>C)
c.14406T>C (p.Asp4802=)
c.14445T>C (p.Asp4815=)
c.6595T>C
c.14424T>C (p.Asp4808=)
c.14373T>C (p.Asp4791=)
n.935T>C
c.14478T>C (p.Asp4826=)
c.14475T>C (p.Asp4825=)
c.14454T>C (p.Asp4818=)
c.14448T>C (p.Asp4816=)
c.14442T>C (p.Asp4814=)
c.14418T>C (p.Asp4806=)
c.14241T>C (p.Asp4747=)
c.14385T>C (p.Asp4795=)
c.14457T>C (p.Asp4819=)
 gnomAD v4 COSMIC COSMIC
1g.237809026T>GCA345424576RYR2c.*5516T>G (n.*5516T>G)
c.14406T>G (p.Asp4802Glu)
c.14445T>G (p.Asp4815Glu)
c.6595T>G
c.14424T>G (p.Asp4808Glu)
c.14373T>G (p.Asp4791Glu)
n.935T>G
c.14478T>G (p.Asp4826Glu)
c.14475T>G (p.Asp4825Glu)
c.14454T>G (p.Asp4818Glu)
c.14448T>G (p.Asp4816Glu)
c.14442T>G (p.Asp4814Glu)
c.14418T>G (p.Asp4806Glu)
c.14241T>G (p.Asp4747Glu)
c.14385T>G (p.Asp4795Glu)
c.14457T>G (p.Asp4819Glu)
1g.237809027A>CCA345424579RYR2c.*5517A>C (n.*5517A>C)
c.14407A>C (p.Met4803Leu)
c.14446A>C (p.Met4816Leu)
c.6596A>C
c.14425A>C (p.Met4809Leu)
c.14374A>C (p.Met4792Leu)
n.936A>C
c.14479A>C (p.Met4827Leu)
c.14476A>C (p.Met4826Leu)
c.14455A>C (p.Met4819Leu)
c.14449A>C (p.Met4817Leu)
c.14443A>C (p.Met4815Leu)
c.14419A>C (p.Met4807Leu)
c.14242A>C (p.Met4748Leu)
c.14386A>C (p.Met4796Leu)
c.14458A>C (p.Met4820Leu)
1g.237809027A>GCA345424580RYR2c.*5517A>G (n.*5517A>G)
c.14407A>G (p.Met4803Val)
c.14446A>G (p.Met4816Val)
c.6596A>G
c.14425A>G (p.Met4809Val)
c.14374A>G (p.Met4792Val)
n.936A>G
c.14479A>G (p.Met4827Val)
c.14476A>G (p.Met4826Val)
c.14455A>G (p.Met4819Val)
c.14449A>G (p.Met4817Val)
c.14443A>G (p.Met4815Val)
c.14419A>G (p.Met4807Val)
c.14242A>G (p.Met4748Val)
c.14386A>G (p.Met4796Val)
c.14458A>G (p.Met4820Val)
1g.237809027A>TCA345424583RYR2c.*5517A>T (n.*5517A>T)
c.14407A>T (p.Met4803Leu)
c.14446A>T (p.Met4816Leu)
c.6596A>T
c.14425A>T (p.Met4809Leu)
c.14374A>T (p.Met4792Leu)
n.936A>T
c.14479A>T (p.Met4827Leu)
c.14476A>T (p.Met4826Leu)
c.14455A>T (p.Met4819Leu)
c.14449A>T (p.Met4817Leu)
c.14443A>T (p.Met4815Leu)
c.14419A>T (p.Met4807Leu)
c.14242A>T (p.Met4748Leu)
c.14386A>T (p.Met4796Leu)
c.14458A>T (p.Met4820Leu)
1g.237809028T>ACA345424588RYR2c.*5518T>A (n.*5518T>A)
c.14408T>A (p.Met4803Lys)
c.14447T>A (p.Met4816Lys)
c.6597T>A
c.14426T>A (p.Met4809Lys)
c.14375T>A (p.Met4792Lys)
n.937T>A
c.14480T>A (p.Met4827Lys)
c.14477T>A (p.Met4826Lys)
c.14456T>A (p.Met4819Lys)
c.14450T>A (p.Met4817Lys)
c.14444T>A (p.Met4815Lys)
c.14420T>A (p.Met4807Lys)
c.14243T>A (p.Met4748Lys)
c.14387T>A (p.Met4796Lys)
c.14459T>A (p.Met4820Lys)
1g.237809028T>CCA345424586RYR2c.*5518T>C (n.*5518T>C)
c.14408T>C (p.Met4803Thr)
c.14447T>C (p.Met4816Thr)
c.6597T>C
c.14426T>C (p.Met4809Thr)
c.14375T>C (p.Met4792Thr)
n.937T>C
c.14480T>C (p.Met4827Thr)
c.14477T>C (p.Met4826Thr)
c.14456T>C (p.Met4819Thr)
c.14450T>C (p.Met4817Thr)
c.14444T>C (p.Met4815Thr)
c.14420T>C (p.Met4807Thr)
c.14243T>C (p.Met4748Thr)
c.14387T>C (p.Met4796Thr)
c.14459T>C (p.Met4820Thr)
1g.237809028T>GCA345424585RYR2c.*5518T>G (n.*5518T>G)
c.14408T>G (p.Met4803Arg)
c.14447T>G (p.Met4816Arg)
c.6597T>G
c.14426T>G (p.Met4809Arg)
c.14375T>G (p.Met4792Arg)
n.937T>G
c.14480T>G (p.Met4827Arg)
c.14477T>G (p.Met4826Arg)
c.14456T>G (p.Met4819Arg)
c.14450T>G (p.Met4817Arg)
c.14444T>G (p.Met4815Arg)
c.14420T>G (p.Met4807Arg)
c.14243T>G (p.Met4748Arg)
c.14387T>G (p.Met4796Arg)
c.14459T>G (p.Met4820Arg)
1g.237809029G>ACA345424589RYR2c.*5519G>A (n.*5519G>A)
c.14409G>A (p.Met4803Ile)
c.14448G>A (p.Met4816Ile)
c.6598G>A
c.14427G>A (p.Met4809Ile)
c.14376G>A (p.Met4792Ile)
n.938G>A
c.14481G>A (p.Met4827Ile)
c.14478G>A (p.Met4826Ile)
c.14457G>A (p.Met4819Ile)
c.14451G>A (p.Met4817Ile)
c.14445G>A (p.Met4815Ile)
c.14421G>A (p.Met4807Ile)
c.14244G>A (p.Met4748Ile)
c.14388G>A (p.Met4796Ile)
c.14460G>A (p.Met4820Ile)
1g.237809029G>CCA345424591RYR2c.*5519G>C (n.*5519G>C)
c.14409G>C (p.Met4803Ile)
c.14448G>C (p.Met4816Ile)
c.6598G>C
c.14427G>C (p.Met4809Ile)
c.14376G>C (p.Met4792Ile)
n.938G>C
c.14481G>C (p.Met4827Ile)
c.14478G>C (p.Met4826Ile)
c.14457G>C (p.Met4819Ile)
c.14451G>C (p.Met4817Ile)
c.14445G>C (p.Met4815Ile)
c.14421G>C (p.Met4807Ile)
c.14244G>C (p.Met4748Ile)
c.14388G>C (p.Met4796Ile)
c.14460G>C (p.Met4820Ile)
1g.237809029G>TCA345424593RYR2c.*5519G>T (n.*5519G>T)
c.14409G>T (p.Met4803Ile)
c.14448G>T (p.Met4816Ile)
c.6598G>T
c.14427G>T (p.Met4809Ile)
c.14376G>T (p.Met4792Ile)
n.938G>T
c.14481G>T (p.Met4827Ile)
c.14478G>T (p.Met4826Ile)
c.14457G>T (p.Met4819Ile)
c.14451G>T (p.Met4817Ile)
c.14445G>T (p.Met4815Ile)
c.14421G>T (p.Met4807Ile)
c.14244G>T (p.Met4748Ile)
c.14388G>T (p.Met4796Ile)
c.14460G>T (p.Met4820Ile)
1g.237809030C>ACA345424594RYR2c.*5520C>A (n.*5520C>A)
c.14410C>A (p.Leu4804Ile)
c.14449C>A (p.Leu4817Ile)
c.6599C>A
c.14428C>A (p.Leu4810Ile)
c.14377C>A (p.Leu4793Ile)
n.939C>A
c.14482C>A (p.Leu4828Ile)
c.14479C>A (p.Leu4827Ile)
c.14458C>A (p.Leu4820Ile)
c.14452C>A (p.Leu4818Ile)
c.14446C>A (p.Leu4816Ile)
c.14422C>A (p.Leu4808Ile)
c.14245C>A (p.Leu4749Ile)
c.14389C>A (p.Leu4797Ile)
c.14461C>A (p.Leu4821Ile)
 gnomAD v4
1g.237809030C>GCA345424596RYR2c.*5520C>G (n.*5520C>G)
c.14410C>G (p.Leu4804Val)
c.14449C>G (p.Leu4817Val)
c.6599C>G
c.14428C>G (p.Leu4810Val)
c.14377C>G (p.Leu4793Val)
n.939C>G
c.14482C>G (p.Leu4828Val)
c.14479C>G (p.Leu4827Val)
c.14458C>G (p.Leu4820Val)
c.14452C>G (p.Leu4818Val)
c.14446C>G (p.Leu4816Val)
c.14422C>G (p.Leu4808Val)
c.14245C>G (p.Leu4749Val)
c.14389C>G (p.Leu4797Val)
c.14461C>G (p.Leu4821Val)
1g.237809030C>TCA424051753RYR2c.*5520C>T (n.*5520C>T)
c.14410C>T (p.Leu4804=)
c.14449C>T (p.Leu4817=)
c.6599C>T
c.14428C>T (p.Leu4810=)
c.14377C>T (p.Leu4793=)
n.939C>T
c.14482C>T (p.Leu4828=)
c.14479C>T (p.Leu4827=)
c.14458C>T (p.Leu4820=)
c.14452C>T (p.Leu4818=)
c.14446C>T (p.Leu4816=)
c.14422C>T (p.Leu4808=)
c.14245C>T (p.Leu4749=)
c.14389C>T (p.Leu4797=)
c.14461C>T (p.Leu4821=)
1g.237809031T>ACA345424603RYR2c.*5521T>A (n.*5521T>A)
c.14411T>A (p.Leu4804Gln)
c.14450T>A (p.Leu4817Gln)
c.6600T>A
c.14429T>A (p.Leu4810Gln)
c.14378T>A (p.Leu4793Gln)
n.940T>A
c.14483T>A (p.Leu4828Gln)
c.14480T>A (p.Leu4827Gln)
c.14459T>A (p.Leu4820Gln)
c.14453T>A (p.Leu4818Gln)
c.14447T>A (p.Leu4816Gln)
c.14423T>A (p.Leu4808Gln)
c.14246T>A (p.Leu4749Gln)
c.14390T>A (p.Leu4797Gln)
c.14462T>A (p.Leu4821Gln)
1g.237809031T>CCA345424601RYR2c.*5521T>C (n.*5521T>C)
c.14411T>C (p.Leu4804Pro)
c.14450T>C (p.Leu4817Pro)
c.6600T>C
c.14429T>C (p.Leu4810Pro)
c.14378T>C (p.Leu4793Pro)
n.940T>C
c.14483T>C (p.Leu4828Pro)
c.14480T>C (p.Leu4827Pro)
c.14459T>C (p.Leu4820Pro)
c.14453T>C (p.Leu4818Pro)
c.14447T>C (p.Leu4816Pro)
c.14423T>C (p.Leu4808Pro)
c.14246T>C (p.Leu4749Pro)
c.14390T>C (p.Leu4797Pro)
c.14462T>C (p.Leu4821Pro)
 COSMIC
1g.237809031T>GCA345424599RYR2c.*5521T>G (n.*5521T>G)
c.14411T>G (p.Leu4804Arg)
c.14450T>G (p.Leu4817Arg)
c.6600T>G
c.14429T>G (p.Leu4810Arg)
c.14378T>G (p.Leu4793Arg)
n.940T>G
c.14483T>G (p.Leu4828Arg)
c.14480T>G (p.Leu4827Arg)
c.14459T>G (p.Leu4820Arg)
c.14453T>G (p.Leu4818Arg)
c.14447T>G (p.Leu4816Arg)
c.14423T>G (p.Leu4808Arg)
c.14246T>G (p.Leu4749Arg)
c.14390T>G (p.Leu4797Arg)
c.14462T>G (p.Leu4821Arg)
1g.237809032A>CCA424051754RYR2c.*5522A>C (n.*5522A>C)
c.14412A>C (p.Leu4804=)
c.14451A>C (p.Leu4817=)
c.6601A>C
c.14430A>C (p.Leu4810=)
c.14379A>C (p.Leu4793=)
n.941A>C
c.14484A>C (p.Leu4828=)
c.14481A>C (p.Leu4827=)
c.14460A>C (p.Leu4820=)
c.14454A>C (p.Leu4818=)
c.14448A>C (p.Leu4816=)
c.14424A>C (p.Leu4808=)
c.14247A>C (p.Leu4749=)
c.14391A>C (p.Leu4797=)
c.14463A>C (p.Leu4821=)
1g.237809032A>GCA424051755RYR2c.*5522A>G (n.*5522A>G)
c.14412A>G (p.Leu4804=)
c.14451A>G (p.Leu4817=)
c.6601A>G
c.14430A>G (p.Leu4810=)
c.14379A>G (p.Leu4793=)
n.941A>G
c.14484A>G (p.Leu4828=)
c.14481A>G (p.Leu4827=)
c.14460A>G (p.Leu4820=)
c.14454A>G (p.Leu4818=)
c.14448A>G (p.Leu4816=)
c.14424A>G (p.Leu4808=)
c.14247A>G (p.Leu4749=)
c.14391A>G (p.Leu4797=)
c.14463A>G (p.Leu4821=)
1g.237809032A>TCA424051756RYR2c.*5522A>T (n.*5522A>T)
c.14412A>T (p.Leu4804=)
c.14451A>T (p.Leu4817=)
c.6601A>T
c.14430A>T (p.Leu4810=)
c.14379A>T (p.Leu4793=)
n.941A>T
c.14484A>T (p.Leu4828=)
c.14481A>T (p.Leu4827=)
c.14460A>T (p.Leu4820=)
c.14454A>T (p.Leu4818=)
c.14448A>T (p.Leu4816=)
c.14424A>T (p.Leu4808=)
c.14247A>T (p.Leu4749=)
c.14391A>T (p.Leu4797=)
c.14463A>T (p.Leu4821=)
1g.237809033A=CA2487493414RYR2c.*5523A= (n.*5523A=)
c.14413A= (p.Thr4805=)
c.14452A= (p.Thr4818=)
c.6602A=
c.14431A= (p.Thr4811=)
c.14380A= (p.Thr4794=)
n.942A=
c.14485A= (p.Thr4829=)
c.14482A= (p.Thr4828=)
c.14461A= (p.Thr4821=)
c.14455A= (p.Thr4819=)
c.14449A= (p.Thr4817=)
c.14425A= (p.Thr4809=)
c.14248A= (p.Thr4750=)
c.14392A= (p.Thr4798=)
c.14464A= (p.Thr4822=)
1g.237809033A>CCA345424605RYR2c.*5523A>C (n.*5523A>C)
c.14413A>C (p.Thr4805Pro)
c.14452A>C (p.Thr4818Pro)
c.6602A>C
c.14431A>C (p.Thr4811Pro)
c.14380A>C (p.Thr4794Pro)
n.942A>C
c.14485A>C (p.Thr4829Pro)
c.14482A>C (p.Thr4828Pro)
c.14461A>C (p.Thr4821Pro)
c.14455A>C (p.Thr4819Pro)
c.14449A>C (p.Thr4817Pro)
c.14425A>C (p.Thr4809Pro)
c.14248A>C (p.Thr4750Pro)
c.14392A>C (p.Thr4798Pro)
c.14464A>C (p.Thr4822Pro)
1g.237809033A>GCA345424607RYR2c.*5523A>G (n.*5523A>G)
c.14413A>G (p.Thr4805Ala)
c.14452A>G (p.Thr4818Ala)
c.6602A>G
c.14431A>G (p.Thr4811Ala)
c.14380A>G (p.Thr4794Ala)
n.942A>G
c.14485A>G (p.Thr4829Ala)
c.14482A>G (p.Thr4828Ala)
c.14461A>G (p.Thr4821Ala)
c.14455A>G (p.Thr4819Ala)
c.14449A>G (p.Thr4817Ala)
c.14425A>G (p.Thr4809Ala)
c.14248A>G (p.Thr4750Ala)
c.14392A>G (p.Thr4798Ala)
c.14464A>G (p.Thr4822Ala)
1g.237809033A>TCA345424609RYR2c.*5523A>T (n.*5523A>T)
c.14413A>T (p.Thr4805Ser)
c.14452A>T (p.Thr4818Ser)
c.6602A>T
c.14431A>T (p.Thr4811Ser)
c.14380A>T (p.Thr4794Ser)
n.942A>T
c.14485A>T (p.Thr4829Ser)
c.14482A>T (p.Thr4828Ser)
c.14461A>T (p.Thr4821Ser)
c.14455A>T (p.Thr4819Ser)
c.14449A>T (p.Thr4817Ser)
c.14425A>T (p.Thr4809Ser)
c.14248A>T (p.Thr4750Ser)
c.14392A>T (p.Thr4798Ser)
c.14464A>T (p.Thr4822Ser)
 dbSNP gnomAD v2
1g.237809034C>ACA345424612RYR2c.*5524C>A (n.*5524C>A)
c.14414C>A (p.Thr4805Lys)
c.14453C>A (p.Thr4818Lys)
c.6603C>A
c.14432C>A (p.Thr4811Lys)
c.14381C>A (p.Thr4794Lys)
n.943C>A
c.14486C>A (p.Thr4829Lys)
c.14483C>A (p.Thr4828Lys)
c.14462C>A (p.Thr4821Lys)
c.14456C>A (p.Thr4819Lys)
c.14450C>A (p.Thr4817Lys)
c.14426C>A (p.Thr4809Lys)
c.14249C>A (p.Thr4750Lys)
c.14393C>A (p.Thr4798Lys)
c.14465C>A (p.Thr4822Lys)
1g.237809034C>GCA345424613RYR2c.*5524C>G (n.*5524C>G)
c.14414C>G (p.Thr4805Arg)
c.14453C>G (p.Thr4818Arg)
c.6603C>G
c.14432C>G (p.Thr4811Arg)
c.14381C>G (p.Thr4794Arg)
n.943C>G
c.14486C>G (p.Thr4829Arg)
c.14483C>G (p.Thr4828Arg)
c.14462C>G (p.Thr4821Arg)
c.14456C>G (p.Thr4819Arg)
c.14450C>G (p.Thr4817Arg)
c.14426C>G (p.Thr4809Arg)
c.14249C>G (p.Thr4750Arg)
c.14393C>G (p.Thr4798Arg)
c.14465C>G (p.Thr4822Arg)
1g.237809034C>TCA345424615RYR2c.*5524C>T (n.*5524C>T)
c.14414C>T (p.Thr4805Ile)
c.14453C>T (p.Thr4818Ile)
c.6603C>T
c.14432C>T (p.Thr4811Ile)
c.14381C>T (p.Thr4794Ile)
n.943C>T
c.14486C>T (p.Thr4829Ile)
c.14483C>T (p.Thr4828Ile)
c.14462C>T (p.Thr4821Ile)
c.14456C>T (p.Thr4819Ile)
c.14450C>T (p.Thr4817Ile)
c.14426C>T (p.Thr4809Ile)
c.14249C>T (p.Thr4750Ile)
c.14393C>T (p.Thr4798Ile)
c.14465C>T (p.Thr4822Ile)
1g.237809035A>CCA424051758RYR2c.*5525A>C (n.*5525A>C)
c.14415A>C (p.Thr4805=)
c.14454A>C (p.Thr4818=)
c.6604A>C
c.14433A>C (p.Thr4811=)
c.14382A>C (p.Thr4794=)
n.944A>C
c.14487A>C (p.Thr4829=)
c.14484A>C (p.Thr4828=)
c.14463A>C (p.Thr4821=)
c.14457A>C (p.Thr4819=)
c.14451A>C (p.Thr4817=)
c.14427A>C (p.Thr4809=)
c.14250A>C (p.Thr4750=)
c.14394A>C (p.Thr4798=)
c.14466A>C (p.Thr4822=)
 ClinVar
1g.237809035A>GCA424051759RYR2c.*5525A>G (n.*5525A>G)
c.14415A>G (p.Thr4805=)
c.14454A>G (p.Thr4818=)
c.6604A>G
c.14433A>G (p.Thr4811=)
c.14382A>G (p.Thr4794=)
n.944A>G
c.14487A>G (p.Thr4829=)
c.14484A>G (p.Thr4828=)
c.14463A>G (p.Thr4821=)
c.14457A>G (p.Thr4819=)
c.14451A>G (p.Thr4817=)
c.14427A>G (p.Thr4809=)
c.14250A>G (p.Thr4750=)
c.14394A>G (p.Thr4798=)
c.14466A>G (p.Thr4822=)
1g.237809035A>TCA424051757RYR2c.*5525A>T (n.*5525A>T)
c.14415A>T (p.Thr4805=)
c.14454A>T (p.Thr4818=)
c.6604A>T
c.14433A>T (p.Thr4811=)
c.14382A>T (p.Thr4794=)
n.944A>T
c.14487A>T (p.Thr4829=)
c.14484A>T (p.Thr4828=)
c.14463A>T (p.Thr4821=)
c.14457A>T (p.Thr4819=)
c.14451A>T (p.Thr4817=)
c.14427A>T (p.Thr4809=)
c.14250A>T (p.Thr4750=)
c.14394A>T (p.Thr4798=)
c.14466A>T (p.Thr4822=)
1g.237809036G>ACA345424617RYR2c.*5525+1G>A (n.*5525+1G>A)
c.14415+1G>A (n.14415+1G>A)
c.14454+1G>A (n.14454+1G>A)
c.6604+1G>A
c.14433+1G>A (n.14433+1G>A)
c.14382+1G>A (n.14382+1G>A)
n.944+1G>A
c.14487+1G>A (n.14487+1G>A)
c.14484+1G>A (n.14484+1G>A)
c.14463+1G>A (n.14463+1G>A)
c.14457+1G>A (n.14457+1G>A)
c.14451+1G>A (n.14451+1G>A)
c.14427+1G>A (n.14427+1G>A)
c.14250+1G>A (n.14250+1G>A)
c.14394+1G>A (n.14394+1G>A)
c.14466+1G>A (n.14466+1G>A)
1g.237809036G>CCA345424619RYR2c.*5525+1G>C (n.*5525+1G>C)
c.14415+1G>C (n.14415+1G>C)
c.14454+1G>C (n.14454+1G>C)
c.6604+1G>C
c.14433+1G>C (n.14433+1G>C)
c.14382+1G>C (n.14382+1G>C)
n.944+1G>C
c.14487+1G>C (n.14487+1G>C)
c.14484+1G>C (n.14484+1G>C)
c.14463+1G>C (n.14463+1G>C)
c.14457+1G>C (n.14457+1G>C)
c.14451+1G>C (n.14451+1G>C)
c.14427+1G>C (n.14427+1G>C)
c.14250+1G>C (n.14250+1G>C)
c.14394+1G>C (n.14394+1G>C)
c.14466+1G>C (n.14466+1G>C)
1g.237809036G>TCA345424618RYR2c.*5525+1G>T (n.*5525+1G>T)
c.14415+1G>T (n.14415+1G>T)
c.14454+1G>T (n.14454+1G>T)
c.6604+1G>T
c.14433+1G>T (n.14433+1G>T)
c.14382+1G>T (n.14382+1G>T)
n.944+1G>T
c.14487+1G>T (n.14487+1G>T)
c.14484+1G>T (n.14484+1G>T)
c.14463+1G>T (n.14463+1G>T)
c.14457+1G>T (n.14457+1G>T)
c.14451+1G>T (n.14451+1G>T)
c.14427+1G>T (n.14427+1G>T)
c.14250+1G>T (n.14250+1G>T)
c.14394+1G>T (n.14394+1G>T)
c.14466+1G>T (n.14466+1G>T)
 COSMIC COSMIC
1g.237809037T>ACA345424621RYR2c.*5525+2T>A (n.*5525+2T>A)
c.14415+2T>A (n.14415+2T>A)
c.14454+2T>A (n.14454+2T>A)
c.6604+2T>A
c.14433+2T>A (n.14433+2T>A)
c.14382+2T>A (n.14382+2T>A)
n.944+2T>A
c.14487+2T>A (n.14487+2T>A)
c.14484+2T>A (n.14484+2T>A)
c.14463+2T>A (n.14463+2T>A)
c.14457+2T>A (n.14457+2T>A)
c.14451+2T>A (n.14451+2T>A)
c.14427+2T>A (n.14427+2T>A)
c.14250+2T>A (n.14250+2T>A)
c.14394+2T>A (n.14394+2T>A)
c.14466+2T>A (n.14466+2T>A)
1g.237809037T>CCA345424623RYR2c.*5525+2T>C (n.*5525+2T>C)
c.14415+2T>C (n.14415+2T>C)
c.14454+2T>C (n.14454+2T>C)
c.6604+2T>C
c.14433+2T>C (n.14433+2T>C)
c.14382+2T>C (n.14382+2T>C)
n.944+2T>C
c.14487+2T>C (n.14487+2T>C)
c.14484+2T>C (n.14484+2T>C)
c.14463+2T>C (n.14463+2T>C)
c.14457+2T>C (n.14457+2T>C)
c.14451+2T>C (n.14451+2T>C)
c.14427+2T>C (n.14427+2T>C)
c.14250+2T>C (n.14250+2T>C)
c.14394+2T>C (n.14394+2T>C)
c.14466+2T>C (n.14466+2T>C)
1g.237809037T>GCA345424625RYR2c.*5525+2T>G (n.*5525+2T>G)
c.14415+2T>G (n.14415+2T>G)
c.14454+2T>G (n.14454+2T>G)
c.6604+2T>G
c.14433+2T>G (n.14433+2T>G)
c.14382+2T>G (n.14382+2T>G)
n.944+2T>G
c.14487+2T>G (n.14487+2T>G)
c.14484+2T>G (n.14484+2T>G)
c.14463+2T>G (n.14463+2T>G)
c.14457+2T>G (n.14457+2T>G)
c.14451+2T>G (n.14451+2T>G)
c.14427+2T>G (n.14427+2T>G)
c.14250+2T>G (n.14250+2T>G)
c.14394+2T>G (n.14394+2T>G)
c.14466+2T>G (n.14466+2T>G)
1g.237809038_237809039dupCA2651216739RYR2c.*5525+3_*5525+4dup (n.*5525+3_*5525+4dup)
c.14415+3_14415+4dup (n.14415+3_14415+4dup)
c.14454+3_14454+4dup (n.14454+3_14454+4dup)
c.6604+3_6604+4dup
c.14433+3_14433+4dup (n.14433+3_14433+4dup)
c.14382+3_14382+4dup (n.14382+3_14382+4dup)
n.944+3_944+4dup
c.14487+3_14487+4dup (n.14487+3_14487+4dup)
c.14484+3_14484+4dup (n.14484+3_14484+4dup)
c.14463+3_14463+4dup (n.14463+3_14463+4dup)
c.14457+3_14457+4dup (n.14457+3_14457+4dup)
c.14451+3_14451+4dup (n.14451+3_14451+4dup)
c.14427+3_14427+4dup (n.14427+3_14427+4dup)
c.14250+3_14250+4dup (n.14250+3_14250+4dup)
c.14394+3_14394+4dup (n.14394+3_14394+4dup)
c.14466+3_14466+4dup (n.14466+3_14466+4dup)
 gnomAD v4
1g.237809040G>ACA2580062482RYR2c.*5525+5G>A (n.*5525+5G>A)
c.14415+5G>A (n.14415+5G>A)
c.14454+5G>A (n.14454+5G>A)
c.6604+5G>A
c.14433+5G>A (n.14433+5G>A)
c.14382+5G>A (n.14382+5G>A)
n.944+5G>A
c.14487+5G>A (n.14487+5G>A)
c.14484+5G>A (n.14484+5G>A)
c.14463+5G>A (n.14463+5G>A)
c.14457+5G>A (n.14457+5G>A)
c.14451+5G>A (n.14451+5G>A)
c.14427+5G>A (n.14427+5G>A)
c.14250+5G>A (n.14250+5G>A)
c.14394+5G>A (n.14394+5G>A)
c.14466+5G>A (n.14466+5G>A)
 ClinVar
1g.237809040G>CCA085659RYR2c.*5525+5G>C (n.*5525+5G>C)
c.14415+5G>C (n.14415+5G>C)
c.14454+5G>C (n.14454+5G>C)
c.6604+5G>C
c.14433+5G>C (n.14433+5G>C)
c.14382+5G>C (n.14382+5G>C)
n.944+5G>C
c.14487+5G>C (n.14487+5G>C)
c.14484+5G>C (n.14484+5G>C)
c.14463+5G>C (n.14463+5G>C)
c.14457+5G>C (n.14457+5G>C)
c.14451+5G>C (n.14451+5G>C)
c.14427+5G>C (n.14427+5G>C)
c.14250+5G>C (n.14250+5G>C)
c.14394+5G>C (n.14394+5G>C)
c.14466+5G>C (n.14466+5G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.237809040G=CA2487493415RYR2c.*5525+5G= (n.*5525+5G=)
c.14415+5G= (n.14415+5G=)
c.14454+5G= (n.14454+5G=)
c.6604+5G=
c.14433+5G= (n.14433+5G=)
c.14382+5G= (n.14382+5G=)
n.944+5G=
c.14487+5G= (n.14487+5G=)
c.14484+5G= (n.14484+5G=)
c.14463+5G= (n.14463+5G=)
c.14457+5G= (n.14457+5G=)
c.14451+5G= (n.14451+5G=)
c.14427+5G= (n.14427+5G=)
c.14250+5G= (n.14250+5G=)
c.14394+5G= (n.14394+5G=)
c.14466+5G= (n.14466+5G=)
1g.237809042T>GCA1013770157RYR2c.*5525+7T>G (n.*5525+7T>G)
c.14415+7T>G (n.14415+7T>G)
c.14454+7T>G (n.14454+7T>G)
c.6604+7T>G
c.14433+7T>G (n.14433+7T>G)
c.14382+7T>G (n.14382+7T>G)
n.944+7T>G
c.14487+7T>G (n.14487+7T>G)
c.14484+7T>G (n.14484+7T>G)
c.14463+7T>G (n.14463+7T>G)
c.14457+7T>G (n.14457+7T>G)
c.14451+7T>G (n.14451+7T>G)
c.14427+7T>G (n.14427+7T>G)
c.14250+7T>G (n.14250+7T>G)
c.14394+7T>G (n.14394+7T>G)
c.14466+7T>G (n.14466+7T>G)
 dbSNP gnomAD v3 gnomAD v4
1g.237809042T=CA2487493416RYR2c.*5525+7T= (n.*5525+7T=)
c.14415+7T= (n.14415+7T=)
c.14454+7T= (n.14454+7T=)
c.6604+7T=
c.14433+7T= (n.14433+7T=)
c.14382+7T= (n.14382+7T=)
n.944+7T=
c.14487+7T= (n.14487+7T=)
c.14484+7T= (n.14484+7T=)
c.14463+7T= (n.14463+7T=)
c.14457+7T= (n.14457+7T=)
c.14451+7T= (n.14451+7T=)
c.14427+7T= (n.14427+7T=)
c.14250+7T= (n.14250+7T=)
c.14394+7T= (n.14394+7T=)
c.14466+7T= (n.14466+7T=)
1g.237809043C>ACA2651216740RYR2c.*5525+8C>A (n.*5525+8C>A)
c.14415+8C>A (n.14415+8C>A)
c.14454+8C>A (n.14454+8C>A)
c.6604+8C>A
c.14433+8C>A (n.14433+8C>A)
c.14382+8C>A (n.14382+8C>A)
n.944+8C>A
c.14487+8C>A (n.14487+8C>A)
c.14484+8C>A (n.14484+8C>A)
c.14463+8C>A (n.14463+8C>A)
c.14457+8C>A (n.14457+8C>A)
c.14451+8C>A (n.14451+8C>A)
c.14427+8C>A (n.14427+8C>A)
c.14250+8C>A (n.14250+8C>A)
c.14394+8C>A (n.14394+8C>A)
c.14466+8C>A (n.14466+8C>A)
 gnomAD v4
1g.237809043C>GCA2651216742RYR2c.*5525+8C>G (n.*5525+8C>G)
c.14415+8C>G (n.14415+8C>G)
c.14454+8C>G (n.14454+8C>G)
c.6604+8C>G
c.14433+8C>G (n.14433+8C>G)
c.14382+8C>G (n.14382+8C>G)
n.944+8C>G
c.14487+8C>G (n.14487+8C>G)
c.14484+8C>G (n.14484+8C>G)
c.14463+8C>G (n.14463+8C>G)
c.14457+8C>G (n.14457+8C>G)
c.14451+8C>G (n.14451+8C>G)
c.14427+8C>G (n.14427+8C>G)
c.14250+8C>G (n.14250+8C>G)
c.14394+8C>G (n.14394+8C>G)
c.14466+8C>G (n.14466+8C>G)
 gnomAD v4
1g.237809043C>TCA2651216741RYR2c.*5525+8C>T (n.*5525+8C>T)
c.14415+8C>T (n.14415+8C>T)
c.14454+8C>T (n.14454+8C>T)
c.6604+8C>T
c.14433+8C>T (n.14433+8C>T)
c.14382+8C>T (n.14382+8C>T)
n.944+8C>T
c.14487+8C>T (n.14487+8C>T)
c.14484+8C>T (n.14484+8C>T)
c.14463+8C>T (n.14463+8C>T)
c.14457+8C>T (n.14457+8C>T)
c.14451+8C>T (n.14451+8C>T)
c.14427+8C>T (n.14427+8C>T)
c.14250+8C>T (n.14250+8C>T)
c.14394+8C>T (n.14394+8C>T)
c.14466+8C>T (n.14466+8C>T)
 gnomAD v4
1g.237809044A>GCA424051760RYR2c.*5525+9A>G (n.*5525+9A>G)
c.14415+9A>G (n.14415+9A>G)
c.14454+9A>G (n.14454+9A>G)
c.6604+9A>G
c.14433+9A>G (n.14433+9A>G)
c.14382+9A>G (n.14382+9A>G)
n.944+9A>G
c.14487+9A>G (n.14487+9A>G)
c.14484+9A>G (n.14484+9A>G)
c.14463+9A>G (n.14463+9A>G)
c.14457+9A>G (n.14457+9A>G)
c.14451+9A>G (n.14451+9A>G)
c.14427+9A>G (n.14427+9A>G)
c.14250+9A>G (n.14250+9A>G)
c.14394+9A>G (n.14394+9A>G)
c.14466+9A>G (n.14466+9A>G)
 gnomAD v4
1g.237809045T>ACA529567755RYR2c.*5525+10T>A (n.*5525+10T>A)
c.14415+10T>A (n.14415+10T>A)
c.14454+10T>A (n.14454+10T>A)
c.6604+10T>A
c.14433+10T>A (n.14433+10T>A)
c.14382+10T>A (n.14382+10T>A)
n.944+10T>A
c.14487+10T>A (n.14487+10T>A)
c.14484+10T>A (n.14484+10T>A)
c.14463+10T>A (n.14463+10T>A)
c.14457+10T>A (n.14457+10T>A)
c.14451+10T>A (n.14451+10T>A)
c.14427+10T>A (n.14427+10T>A)
c.14250+10T>A (n.14250+10T>A)
c.14394+10T>A (n.14394+10T>A)
c.14466+10T>A (n.14466+10T>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.237809045T=CA2487493417RYR2c.*5525+10T= (n.*5525+10T=)
c.14415+10T= (n.14415+10T=)
c.14454+10T= (n.14454+10T=)
c.6604+10T=
c.14433+10T= (n.14433+10T=)
c.14382+10T= (n.14382+10T=)
n.944+10T=
c.14487+10T= (n.14487+10T=)
c.14484+10T= (n.14484+10T=)
c.14463+10T= (n.14463+10T=)
c.14457+10T= (n.14457+10T=)
c.14451+10T= (n.14451+10T=)
c.14427+10T= (n.14427+10T=)
c.14250+10T= (n.14250+10T=)
c.14394+10T= (n.14394+10T=)
c.14466+10T= (n.14466+10T=)
1g.237809047A>GCA2651216743RYR2c.*5525+12A>G (n.*5525+12A>G)
c.14415+12A>G (n.14415+12A>G)
c.14454+12A>G (n.14454+12A>G)
c.6604+12A>G
c.14433+12A>G (n.14433+12A>G)
c.14382+12A>G (n.14382+12A>G)
n.944+12A>G
c.14487+12A>G (n.14487+12A>G)
c.14484+12A>G (n.14484+12A>G)
c.14463+12A>G (n.14463+12A>G)
c.14457+12A>G (n.14457+12A>G)
c.14451+12A>G (n.14451+12A>G)
c.14427+12A>G (n.14427+12A>G)
c.14250+12A>G (n.14250+12A>G)
c.14394+12A>G (n.14394+12A>G)
c.14466+12A>G (n.14466+12A>G)
 gnomAD v4
1g.237809048C>TCA2574488295RYR2c.*5525+13C>T (n.*5525+13C>T)
c.14415+13C>T (n.14415+13C>T)
c.14454+13C>T (n.14454+13C>T)
c.6604+13C>T
c.14433+13C>T (n.14433+13C>T)
c.14382+13C>T (n.14382+13C>T)
n.944+13C>T
c.14487+13C>T (n.14487+13C>T)
c.14484+13C>T (n.14484+13C>T)
c.14463+13C>T (n.14463+13C>T)
c.14457+13C>T (n.14457+13C>T)
c.14451+13C>T (n.14451+13C>T)
c.14427+13C>T (n.14427+13C>T)
c.14250+13C>T (n.14250+13C>T)
c.14394+13C>T (n.14394+13C>T)
c.14466+13C>T (n.14466+13C>T)
 gnomAD v4
1g.237809049C>ACA529567756RYR2c.*5525+14C>A (n.*5525+14C>A)
c.14415+14C>A (n.14415+14C>A)
c.14454+14C>A (n.14454+14C>A)
c.6604+14C>A
c.14433+14C>A (n.14433+14C>A)
c.14382+14C>A (n.14382+14C>A)
n.944+14C>A
c.14487+14C>A (n.14487+14C>A)
c.14484+14C>A (n.14484+14C>A)
c.14463+14C>A (n.14463+14C>A)
c.14457+14C>A (n.14457+14C>A)
c.14451+14C>A (n.14451+14C>A)
c.14427+14C>A (n.14427+14C>A)
c.14250+14C>A (n.14250+14C>A)
c.14394+14C>A (n.14394+14C>A)
c.14466+14C>A (n.14466+14C>A)
 dbSNP gnomAD v2 gnomAD v4
1g.237809049C=CA2487493418RYR2c.*5525+14C= (n.*5525+14C=)
c.14415+14C= (n.14415+14C=)
c.14454+14C= (n.14454+14C=)
c.6604+14C=
c.14433+14C= (n.14433+14C=)
c.14382+14C= (n.14382+14C=)
n.944+14C=
c.14487+14C= (n.14487+14C=)
c.14484+14C= (n.14484+14C=)
c.14463+14C= (n.14463+14C=)
c.14457+14C= (n.14457+14C=)
c.14451+14C= (n.14451+14C=)
c.14427+14C= (n.14427+14C=)
c.14250+14C= (n.14250+14C=)
c.14394+14C= (n.14394+14C=)
c.14466+14C= (n.14466+14C=)
1g.237809049C>GCA2651216744RYR2c.*5525+14C>G (n.*5525+14C>G)
c.14415+14C>G (n.14415+14C>G)
c.14454+14C>G (n.14454+14C>G)
c.6604+14C>G
c.14433+14C>G (n.14433+14C>G)
c.14382+14C>G (n.14382+14C>G)
n.944+14C>G
c.14487+14C>G (n.14487+14C>G)
c.14484+14C>G (n.14484+14C>G)
c.14463+14C>G (n.14463+14C>G)
c.14457+14C>G (n.14457+14C>G)
c.14451+14C>G (n.14451+14C>G)
c.14427+14C>G (n.14427+14C>G)
c.14250+14C>G (n.14250+14C>G)
c.14394+14C>G (n.14394+14C>G)
c.14466+14C>G (n.14466+14C>G)
 gnomAD v4
1g.237809049C>TCA2698181315RYR2c.*5525+14C>T (n.*5525+14C>T)
c.14415+14C>T (n.14415+14C>T)
c.14454+14C>T (n.14454+14C>T)
c.6604+14C>T
c.14433+14C>T (n.14433+14C>T)
c.14382+14C>T (n.14382+14C>T)
n.944+14C>T
c.14487+14C>T (n.14487+14C>T)
c.14484+14C>T (n.14484+14C>T)
c.14463+14C>T (n.14463+14C>T)
c.14457+14C>T (n.14457+14C>T)
c.14451+14C>T (n.14451+14C>T)
c.14427+14C>T (n.14427+14C>T)
c.14250+14C>T (n.14250+14C>T)
c.14394+14C>T (n.14394+14C>T)
c.14466+14C>T (n.14466+14C>T)
 dbSNP
1g.237809050T>ACA2651216745RYR2c.*5525+15T>A (n.*5525+15T>A)
c.14415+15T>A (n.14415+15T>A)
c.14454+15T>A (n.14454+15T>A)
c.6604+15T>A
c.14433+15T>A (n.14433+15T>A)
c.14382+15T>A (n.14382+15T>A)
n.944+15T>A
c.14487+15T>A (n.14487+15T>A)
c.14484+15T>A (n.14484+15T>A)
c.14463+15T>A (n.14463+15T>A)
c.14457+15T>A (n.14457+15T>A)
c.14451+15T>A (n.14451+15T>A)
c.14427+15T>A (n.14427+15T>A)
c.14250+15T>A (n.14250+15T>A)
c.14394+15T>A (n.14394+15T>A)
c.14466+15T>A (n.14466+15T>A)
 gnomAD v4
1g.237809053G>TCA2651216746RYR2c.*5525+18G>T (n.*5525+18G>T)
c.14415+18G>T (n.14415+18G>T)
c.14454+18G>T (n.14454+18G>T)
c.6604+18G>T
c.14433+18G>T (n.14433+18G>T)
c.14382+18G>T (n.14382+18G>T)
n.944+18G>T
c.14487+18G>T (n.14487+18G>T)
c.14484+18G>T (n.14484+18G>T)
c.14463+18G>T (n.14463+18G>T)
c.14457+18G>T (n.14457+18G>T)
c.14451+18G>T (n.14451+18G>T)
c.14427+18G>T (n.14427+18G>T)
c.14250+18G>T (n.14250+18G>T)
c.14394+18G>T (n.14394+18G>T)
c.14466+18G>T (n.14466+18G>T)
 gnomAD v4

Number of alleles fetched