Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.237808931G>A | CA345424123 | RYR2 | c.*5421G>A (n.*5421G>A) c.14311G>A (p.Val4771Ile) c.14350G>A (p.Val4784Ile) c.6500G>A c.14329G>A (p.Val4777Ile) c.14278G>A (p.Val4760Ile) n.840G>A c.14383G>A (p.Val4795Ile) c.14380G>A (p.Val4794Ile) c.14359G>A (p.Val4787Ile) c.14353G>A (p.Val4785Ile) c.14347G>A (p.Val4783Ile) c.14323G>A (p.Val4775Ile) c.14146G>A (p.Val4716Ile) c.14290G>A (p.Val4764Ile) c.14362G>A (p.Val4788Ile) | |
1 | g.237808931G>C | CA345424125 | RYR2 | c.*5421G>C (n.*5421G>C) c.14311G>C (p.Val4771Leu) c.14350G>C (p.Val4784Leu) c.6500G>C c.14329G>C (p.Val4777Leu) c.14278G>C (p.Val4760Leu) n.840G>C c.14383G>C (p.Val4795Leu) c.14380G>C (p.Val4794Leu) c.14359G>C (p.Val4787Leu) c.14353G>C (p.Val4785Leu) c.14347G>C (p.Val4783Leu) c.14323G>C (p.Val4775Leu) c.14146G>C (p.Val4716Leu) c.14290G>C (p.Val4764Leu) c.14362G>C (p.Val4788Leu) | |
1 | g.237808931G>T | CA345424127 | RYR2 | c.*5421G>T (n.*5421G>T) c.14311G>T (p.Val4771Phe) c.14350G>T (p.Val4784Phe) c.6500G>T c.14329G>T (p.Val4777Phe) c.14278G>T (p.Val4760Phe) n.840G>T c.14383G>T (p.Val4795Phe) c.14380G>T (p.Val4794Phe) c.14359G>T (p.Val4787Phe) c.14353G>T (p.Val4785Phe) c.14347G>T (p.Val4783Phe) c.14323G>T (p.Val4775Phe) c.14146G>T (p.Val4716Phe) c.14290G>T (p.Val4764Phe) c.14362G>T (p.Val4788Phe) | |
1 | g.237808932T>A | CA345424143 | RYR2 | c.*5422T>A (n.*5422T>A) c.14312T>A (p.Val4771Asp) c.14351T>A (p.Val4784Asp) c.6501T>A c.14330T>A (p.Val4777Asp) c.14279T>A (p.Val4760Asp) n.841T>A c.14384T>A (p.Val4795Asp) c.14381T>A (p.Val4794Asp) c.14360T>A (p.Val4787Asp) c.14354T>A (p.Val4785Asp) c.14348T>A (p.Val4783Asp) c.14324T>A (p.Val4775Asp) c.14147T>A (p.Val4716Asp) c.14291T>A (p.Val4764Asp) c.14363T>A (p.Val4788Asp) | |
1 | g.237808932T>C | CA39843968 | RYR2 | c.*5422T>C (n.*5422T>C) c.14312T>C (p.Val4771Ala) c.14351T>C (p.Val4784Ala) c.6501T>C c.14330T>C (p.Val4777Ala) c.14279T>C (p.Val4760Ala) n.841T>C c.14384T>C (p.Val4795Ala) c.14381T>C (p.Val4794Ala) c.14360T>C (p.Val4787Ala) c.14354T>C (p.Val4785Ala) c.14348T>C (p.Val4783Ala) c.14324T>C (p.Val4775Ala) c.14147T>C (p.Val4716Ala) c.14291T>C (p.Val4764Ala) c.14363T>C (p.Val4788Ala) | dbSNP |
1 | g.237808932T>G | CA345424136 | RYR2 | c.*5422T>G (n.*5422T>G) c.14312T>G (p.Val4771Gly) c.14351T>G (p.Val4784Gly) c.6501T>G c.14330T>G (p.Val4777Gly) c.14279T>G (p.Val4760Gly) n.841T>G c.14384T>G (p.Val4795Gly) c.14381T>G (p.Val4794Gly) c.14360T>G (p.Val4787Gly) c.14354T>G (p.Val4785Gly) c.14348T>G (p.Val4783Gly) c.14324T>G (p.Val4775Gly) c.14147T>G (p.Val4716Gly) c.14291T>G (p.Val4764Gly) c.14363T>G (p.Val4788Gly) | |
1 | g.237808932T= | CA2487493380 | RYR2 | c.*5422T= (n.*5422T=) c.14312T= (p.Val4771=) c.14351T= (p.Val4784=) c.6501T= c.14330T= (p.Val4777=) c.14279T= (p.Val4760=) n.841T= c.14384T= (p.Val4795=) c.14381T= (p.Val4794=) c.14360T= (p.Val4787=) c.14354T= (p.Val4785=) c.14348T= (p.Val4783=) c.14324T= (p.Val4775=) c.14147T= (p.Val4716=) c.14291T= (p.Val4764=) c.14363T= (p.Val4788=) | |
1 | g.237808933T>A | CA424051707 | RYR2 | c.*5423T>A (n.*5423T>A) c.14313T>A (p.Val4771=) c.14352T>A (p.Val4784=) c.6502T>A c.14331T>A (p.Val4777=) c.14280T>A (p.Val4760=) n.842T>A c.14385T>A (p.Val4795=) c.14382T>A (p.Val4794=) c.14361T>A (p.Val4787=) c.14355T>A (p.Val4785=) c.14349T>A (p.Val4783=) c.14325T>A (p.Val4775=) c.14148T>A (p.Val4716=) c.14292T>A (p.Val4764=) c.14364T>A (p.Val4788=) | gnomAD v4 |
1 | g.237808933T>C | CA424051708 | RYR2 | c.*5423T>C (n.*5423T>C) c.14313T>C (p.Val4771=) c.14352T>C (p.Val4784=) c.6502T>C c.14331T>C (p.Val4777=) c.14280T>C (p.Val4760=) n.842T>C c.14385T>C (p.Val4795=) c.14382T>C (p.Val4794=) c.14361T>C (p.Val4787=) c.14355T>C (p.Val4785=) c.14349T>C (p.Val4783=) c.14325T>C (p.Val4775=) c.14148T>C (p.Val4716=) c.14292T>C (p.Val4764=) c.14364T>C (p.Val4788=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.237808933T>G | CA424051709 | RYR2 | c.*5423T>G (n.*5423T>G) c.14313T>G (p.Val4771=) c.14352T>G (p.Val4784=) c.6502T>G c.14331T>G (p.Val4777=) c.14280T>G (p.Val4760=) n.842T>G c.14385T>G (p.Val4795=) c.14382T>G (p.Val4794=) c.14361T>G (p.Val4787=) c.14355T>G (p.Val4785=) c.14349T>G (p.Val4783=) c.14325T>G (p.Val4775=) c.14148T>G (p.Val4716=) c.14292T>G (p.Val4764=) c.14364T>G (p.Val4788=) | |
1 | g.237808933T= | CA2487493381 | RYR2 | c.*5423T= (n.*5423T=) c.14313T= (p.Val4771=) c.14352T= (p.Val4784=) c.6502T= c.14331T= (p.Val4777=) c.14280T= (p.Val4760=) n.842T= c.14385T= (p.Val4795=) c.14382T= (p.Val4794=) c.14361T= (p.Val4787=) c.14355T= (p.Val4785=) c.14349T= (p.Val4783=) c.14325T= (p.Val4775=) c.14148T= (p.Val4716=) c.14292T= (p.Val4764=) c.14364T= (p.Val4788=) | |
1 | g.237808934G>A | CA345424147 | RYR2 | c.*5424G>A (n.*5424G>A) c.14314G>A (p.Val4772Ile) c.14353G>A (p.Val4785Ile) c.6503G>A c.14332G>A (p.Val4778Ile) c.14281G>A (p.Val4761Ile) n.843G>A c.14386G>A (p.Val4796Ile) c.14383G>A (p.Val4795Ile) c.14362G>A (p.Val4788Ile) c.14356G>A (p.Val4786Ile) c.14350G>A (p.Val4784Ile) c.14326G>A (p.Val4776Ile) c.14149G>A (p.Val4717Ile) c.14293G>A (p.Val4765Ile) c.14365G>A (p.Val4789Ile) | ClinVar dbSNP |
1 | g.237808934G>C | CA345424149 | RYR2 | c.*5424G>C (n.*5424G>C) c.14314G>C (p.Val4772Leu) c.14353G>C (p.Val4785Leu) c.6503G>C c.14332G>C (p.Val4778Leu) c.14281G>C (p.Val4761Leu) n.843G>C c.14386G>C (p.Val4796Leu) c.14383G>C (p.Val4795Leu) c.14362G>C (p.Val4788Leu) c.14356G>C (p.Val4786Leu) c.14350G>C (p.Val4784Leu) c.14326G>C (p.Val4776Leu) c.14149G>C (p.Val4717Leu) c.14293G>C (p.Val4765Leu) c.14365G>C (p.Val4789Leu) | |
1 | g.237808934G= | CA2487493382 | RYR2 | c.*5424G= (n.*5424G=) c.14314G= (p.Val4772=) c.14353G= (p.Val4785=) c.6503G= c.14332G= (p.Val4778=) c.14281G= (p.Val4761=) n.843G= c.14386G= (p.Val4796=) c.14383G= (p.Val4795=) c.14362G= (p.Val4788=) c.14356G= (p.Val4786=) c.14350G= (p.Val4784=) c.14326G= (p.Val4776=) c.14149G= (p.Val4717=) c.14293G= (p.Val4765=) c.14365G= (p.Val4789=) | |
1 | g.237808934G>T | CA16610068 | RYR2 | c.*5424G>T (n.*5424G>T) c.14314G>T (p.Val4772Leu) c.14353G>T (p.Val4785Leu) c.6503G>T c.14332G>T (p.Val4778Leu) c.14281G>T (p.Val4761Leu) n.843G>T c.14386G>T (p.Val4796Leu) c.14383G>T (p.Val4795Leu) c.14362G>T (p.Val4788Leu) c.14356G>T (p.Val4786Leu) c.14350G>T (p.Val4784Leu) c.14326G>T (p.Val4776Leu) c.14149G>T (p.Val4717Leu) c.14293G>T (p.Val4765Leu) c.14365G>T (p.Val4789Leu) | ClinVar dbSNP |
1 | g.237808935T>A | CA345424154 | RYR2 | c.*5425T>A (n.*5425T>A) c.14315T>A (p.Val4772Glu) c.14354T>A (p.Val4785Glu) c.6504T>A c.14333T>A (p.Val4778Glu) c.14282T>A (p.Val4761Glu) n.844T>A c.14387T>A (p.Val4796Glu) c.14384T>A (p.Val4795Glu) c.14363T>A (p.Val4788Glu) c.14357T>A (p.Val4786Glu) c.14351T>A (p.Val4784Glu) c.14327T>A (p.Val4776Glu) c.14150T>A (p.Val4717Glu) c.14294T>A (p.Val4765Glu) c.14366T>A (p.Val4789Glu) | |
1 | g.237808935T>C | CA345424156 | RYR2 | c.*5425T>C (n.*5425T>C) c.14315T>C (p.Val4772Ala) c.14354T>C (p.Val4785Ala) c.6504T>C c.14333T>C (p.Val4778Ala) c.14282T>C (p.Val4761Ala) n.844T>C c.14387T>C (p.Val4796Ala) c.14384T>C (p.Val4795Ala) c.14363T>C (p.Val4788Ala) c.14357T>C (p.Val4786Ala) c.14351T>C (p.Val4784Ala) c.14327T>C (p.Val4776Ala) c.14150T>C (p.Val4717Ala) c.14294T>C (p.Val4765Ala) c.14366T>C (p.Val4789Ala) | dbSNP |
1 | g.237808935T>G | CA068296 | RYR2 | c.*5425T>G (n.*5425T>G) c.14315T>G (p.Val4772Gly) c.14354T>G (p.Val4785Gly) c.6504T>G c.14333T>G (p.Val4778Gly) c.14282T>G (p.Val4761Gly) n.844T>G c.14387T>G (p.Val4796Gly) c.14384T>G (p.Val4795Gly) c.14363T>G (p.Val4788Gly) c.14357T>G (p.Val4786Gly) c.14351T>G (p.Val4784Gly) c.14327T>G (p.Val4776Gly) c.14150T>G (p.Val4717Gly) c.14294T>G (p.Val4765Gly) c.14366T>G (p.Val4789Gly) | |
1 | g.237808935T= | CA2487493383 | RYR2 | c.*5425T= (n.*5425T=) c.14315T= (p.Val4772=) c.14354T= (p.Val4785=) c.6504T= c.14333T= (p.Val4778=) c.14282T= (p.Val4761=) n.844T= c.14387T= (p.Val4796=) c.14384T= (p.Val4795=) c.14363T= (p.Val4788=) c.14357T= (p.Val4786=) c.14351T= (p.Val4784=) c.14327T= (p.Val4776=) c.14150T= (p.Val4717=) c.14294T= (p.Val4765=) c.14366T= (p.Val4789=) | |
1 | g.237808936A>C | CA424051710 | RYR2 | c.*5426A>C (n.*5426A>C) c.14316A>C (p.Val4772=) c.14355A>C (p.Val4785=) c.6505A>C c.14334A>C (p.Val4778=) c.14283A>C (p.Val4761=) n.845A>C c.14388A>C (p.Val4796=) c.14385A>C (p.Val4795=) c.14364A>C (p.Val4788=) c.14358A>C (p.Val4786=) c.14352A>C (p.Val4784=) c.14328A>C (p.Val4776=) c.14151A>C (p.Val4717=) c.14295A>C (p.Val4765=) c.14367A>C (p.Val4789=) | |
1 | g.237808936A>G | CA424051711 | RYR2 | c.*5426A>G (n.*5426A>G) c.14316A>G (p.Val4772=) c.14355A>G (p.Val4785=) c.6505A>G c.14334A>G (p.Val4778=) c.14283A>G (p.Val4761=) n.845A>G c.14388A>G (p.Val4796=) c.14385A>G (p.Val4795=) c.14364A>G (p.Val4788=) c.14358A>G (p.Val4786=) c.14352A>G (p.Val4784=) c.14328A>G (p.Val4776=) c.14151A>G (p.Val4717=) c.14295A>G (p.Val4765=) c.14367A>G (p.Val4789=) | |
1 | g.237808936A>T | CA424051712 | RYR2 | c.*5426A>T (n.*5426A>T) c.14316A>T (p.Val4772=) c.14355A>T (p.Val4785=) c.6505A>T c.14334A>T (p.Val4778=) c.14283A>T (p.Val4761=) n.845A>T c.14388A>T (p.Val4796=) c.14385A>T (p.Val4795=) c.14364A>T (p.Val4788=) c.14358A>T (p.Val4786=) c.14352A>T (p.Val4784=) c.14328A>T (p.Val4776=) c.14151A>T (p.Val4717=) c.14295A>T (p.Val4765=) c.14367A>T (p.Val4789=) | |
1 | g.237808937T>A | CA345424160 | RYR2 | c.*5427T>A (n.*5427T>A) c.14317T>A (p.Tyr4773Asn) c.14356T>A (p.Tyr4786Asn) c.6506T>A c.14335T>A (p.Tyr4779Asn) c.14284T>A (p.Tyr4762Asn) n.846T>A c.14389T>A (p.Tyr4797Asn) c.14386T>A (p.Tyr4796Asn) c.14365T>A (p.Tyr4789Asn) c.14359T>A (p.Tyr4787Asn) c.14353T>A (p.Tyr4785Asn) c.14329T>A (p.Tyr4777Asn) c.14152T>A (p.Tyr4718Asn) c.14296T>A (p.Tyr4766Asn) c.14368T>A (p.Tyr4790Asn) | |
1 | g.237808937T>C | CA345424165 | RYR2 | c.*5427T>C (n.*5427T>C) c.14317T>C (p.Tyr4773His) c.14356T>C (p.Tyr4786His) c.6506T>C c.14335T>C (p.Tyr4779His) c.14284T>C (p.Tyr4762His) n.846T>C c.14389T>C (p.Tyr4797His) c.14386T>C (p.Tyr4796His) c.14365T>C (p.Tyr4789His) c.14359T>C (p.Tyr4787His) c.14353T>C (p.Tyr4785His) c.14329T>C (p.Tyr4777His) c.14152T>C (p.Tyr4718His) c.14296T>C (p.Tyr4766His) c.14368T>C (p.Tyr4790His) | |
1 | g.237808937T>G | CA345424168 | RYR2 | c.*5427T>G (n.*5427T>G) c.14317T>G (p.Tyr4773Asp) c.14356T>G (p.Tyr4786Asp) c.6506T>G c.14335T>G (p.Tyr4779Asp) c.14284T>G (p.Tyr4762Asp) n.846T>G c.14389T>G (p.Tyr4797Asp) c.14386T>G (p.Tyr4796Asp) c.14365T>G (p.Tyr4789Asp) c.14359T>G (p.Tyr4787Asp) c.14353T>G (p.Tyr4785Asp) c.14329T>G (p.Tyr4777Asp) c.14152T>G (p.Tyr4718Asp) c.14296T>G (p.Tyr4766Asp) c.14368T>G (p.Tyr4790Asp) | |
1 | g.237808938A>C | CA345424171 | RYR2 | c.*5428A>C (n.*5428A>C) c.14318A>C (p.Tyr4773Ser) c.14357A>C (p.Tyr4786Ser) c.6507A>C c.14336A>C (p.Tyr4779Ser) c.14285A>C (p.Tyr4762Ser) n.847A>C c.14390A>C (p.Tyr4797Ser) c.14387A>C (p.Tyr4796Ser) c.14366A>C (p.Tyr4789Ser) c.14360A>C (p.Tyr4787Ser) c.14354A>C (p.Tyr4785Ser) c.14330A>C (p.Tyr4777Ser) c.14153A>C (p.Tyr4718Ser) c.14297A>C (p.Tyr4766Ser) c.14369A>C (p.Tyr4790Ser) | |
1 | g.237808938A>G | CA345424174 | RYR2 | c.*5428A>G (n.*5428A>G) c.14318A>G (p.Tyr4773Cys) c.14357A>G (p.Tyr4786Cys) c.6507A>G c.14336A>G (p.Tyr4779Cys) c.14285A>G (p.Tyr4762Cys) n.847A>G c.14390A>G (p.Tyr4797Cys) c.14387A>G (p.Tyr4796Cys) c.14366A>G (p.Tyr4789Cys) c.14360A>G (p.Tyr4787Cys) c.14354A>G (p.Tyr4785Cys) c.14330A>G (p.Tyr4777Cys) c.14153A>G (p.Tyr4718Cys) c.14297A>G (p.Tyr4766Cys) c.14369A>G (p.Tyr4790Cys) | COSMIC COSMIC |
1 | g.237808938A>T | CA345424175 | RYR2 | c.*5428A>T (n.*5428A>T) c.14318A>T (p.Tyr4773Phe) c.14357A>T (p.Tyr4786Phe) c.6507A>T c.14336A>T (p.Tyr4779Phe) c.14285A>T (p.Tyr4762Phe) n.847A>T c.14390A>T (p.Tyr4797Phe) c.14387A>T (p.Tyr4796Phe) c.14366A>T (p.Tyr4789Phe) c.14360A>T (p.Tyr4787Phe) c.14354A>T (p.Tyr4785Phe) c.14330A>T (p.Tyr4777Phe) c.14153A>T (p.Tyr4718Phe) c.14297A>T (p.Tyr4766Phe) c.14369A>T (p.Tyr4790Phe) | |
1 | g.237808939C>A | CA345424178 | RYR2 | c.*5429C>A (n.*5429C>A) c.14319C>A (p.Tyr4773Ter) c.14358C>A (p.Tyr4786Ter) c.6508C>A c.14337C>A (p.Tyr4779Ter) c.14286C>A (p.Tyr4762Ter) n.848C>A c.14391C>A (p.Tyr4797Ter) c.14388C>A (p.Tyr4796Ter) c.14367C>A (p.Tyr4789Ter) c.14361C>A (p.Tyr4787Ter) c.14355C>A (p.Tyr4785Ter) c.14331C>A (p.Tyr4777Ter) c.14154C>A (p.Tyr4718Ter) c.14298C>A (p.Tyr4766Ter) c.14370C>A (p.Tyr4790Ter) | |
1 | g.237808939C>G | CA345424179 | RYR2 | c.*5429C>G (n.*5429C>G) c.14319C>G (p.Tyr4773Ter) c.14358C>G (p.Tyr4786Ter) c.6508C>G c.14337C>G (p.Tyr4779Ter) c.14286C>G (p.Tyr4762Ter) n.848C>G c.14391C>G (p.Tyr4797Ter) c.14388C>G (p.Tyr4796Ter) c.14367C>G (p.Tyr4789Ter) c.14361C>G (p.Tyr4787Ter) c.14355C>G (p.Tyr4785Ter) c.14331C>G (p.Tyr4777Ter) c.14154C>G (p.Tyr4718Ter) c.14298C>G (p.Tyr4766Ter) c.14370C>G (p.Tyr4790Ter) | |
1 | g.237808939C>T | CA424051713 | RYR2 | c.*5429C>T (n.*5429C>T) c.14319C>T (p.Tyr4773=) c.14358C>T (p.Tyr4786=) c.6508C>T c.14337C>T (p.Tyr4779=) c.14286C>T (p.Tyr4762=) n.848C>T c.14391C>T (p.Tyr4797=) c.14388C>T (p.Tyr4796=) c.14367C>T (p.Tyr4789=) c.14361C>T (p.Tyr4787=) c.14355C>T (p.Tyr4785=) c.14331C>T (p.Tyr4777=) c.14154C>T (p.Tyr4718=) c.14298C>T (p.Tyr4766=) c.14370C>T (p.Tyr4790=) | ClinVar |
1 | g.237808940C>A | CA345424180 | RYR2 | c.*5430C>A (n.*5430C>A) c.14320C>A (p.Leu4774Ile) c.14359C>A (p.Leu4787Ile) c.6509C>A c.14338C>A (p.Leu4780Ile) c.14287C>A (p.Leu4763Ile) n.849C>A c.14392C>A (p.Leu4798Ile) c.14389C>A (p.Leu4797Ile) c.14368C>A (p.Leu4790Ile) c.14362C>A (p.Leu4788Ile) c.14356C>A (p.Leu4786Ile) c.14332C>A (p.Leu4778Ile) c.14155C>A (p.Leu4719Ile) c.14299C>A (p.Leu4767Ile) c.14371C>A (p.Leu4791Ile) | COSMIC COSMIC |
1 | g.237808940C= | CA2487493384 | RYR2 | c.*5430C= (n.*5430C=) c.14320C= (p.Leu4774=) c.14359C= (p.Leu4787=) c.6509C= c.14338C= (p.Leu4780=) c.14287C= (p.Leu4763=) n.849C= c.14392C= (p.Leu4798=) c.14389C= (p.Leu4797=) c.14368C= (p.Leu4790=) c.14362C= (p.Leu4788=) c.14356C= (p.Leu4786=) c.14332C= (p.Leu4778=) c.14155C= (p.Leu4719=) c.14299C= (p.Leu4767=) c.14371C= (p.Leu4791=) | |
1 | g.237808940C>G | CA345424181 | RYR2 | c.*5430C>G (n.*5430C>G) c.14320C>G (p.Leu4774Val) c.14359C>G (p.Leu4787Val) c.6509C>G c.14338C>G (p.Leu4780Val) c.14287C>G (p.Leu4763Val) n.849C>G c.14392C>G (p.Leu4798Val) c.14389C>G (p.Leu4797Val) c.14368C>G (p.Leu4790Val) c.14362C>G (p.Leu4788Val) c.14356C>G (p.Leu4786Val) c.14332C>G (p.Leu4778Val) c.14155C>G (p.Leu4719Val) c.14299C>G (p.Leu4767Val) c.14371C>G (p.Leu4791Val) | ClinVar |
1 | g.237808940C>T | CA085645 | RYR2 | c.*5430C>T (n.*5430C>T) c.14320C>T (p.Leu4774=) c.14359C>T (p.Leu4787=) c.6509C>T c.14338C>T (p.Leu4780=) c.14287C>T (p.Leu4763=) n.849C>T c.14392C>T (p.Leu4798=) c.14389C>T (p.Leu4797=) c.14368C>T (p.Leu4790=) c.14362C>T (p.Leu4788=) c.14356C>T (p.Leu4786=) c.14332C>T (p.Leu4778=) c.14155C>T (p.Leu4719=) c.14299C>T (p.Leu4767=) c.14371C>T (p.Leu4791=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.237808941T>A | CA345424183 | RYR2 | c.*5431T>A (n.*5431T>A) c.14321T>A (p.Leu4774Gln) c.14360T>A (p.Leu4787Gln) c.6510T>A c.14339T>A (p.Leu4780Gln) c.14288T>A (p.Leu4763Gln) n.850T>A c.14393T>A (p.Leu4798Gln) c.14390T>A (p.Leu4797Gln) c.14369T>A (p.Leu4790Gln) c.14363T>A (p.Leu4788Gln) c.14357T>A (p.Leu4786Gln) c.14333T>A (p.Leu4778Gln) c.14156T>A (p.Leu4719Gln) c.14300T>A (p.Leu4767Gln) c.14372T>A (p.Leu4791Gln) | |
1 | g.237808941T>C | CA345424186 | RYR2 | c.*5431T>C (n.*5431T>C) c.14321T>C (p.Leu4774Pro) c.14360T>C (p.Leu4787Pro) c.6510T>C c.14339T>C (p.Leu4780Pro) c.14288T>C (p.Leu4763Pro) n.850T>C c.14393T>C (p.Leu4798Pro) c.14390T>C (p.Leu4797Pro) c.14369T>C (p.Leu4790Pro) c.14363T>C (p.Leu4788Pro) c.14357T>C (p.Leu4786Pro) c.14333T>C (p.Leu4778Pro) c.14156T>C (p.Leu4719Pro) c.14300T>C (p.Leu4767Pro) c.14372T>C (p.Leu4791Pro) | ClinVar |
1 | g.237808941T>G | CA345424184 | RYR2 | c.*5431T>G (n.*5431T>G) c.14321T>G (p.Leu4774Arg) c.14360T>G (p.Leu4787Arg) c.6510T>G c.14339T>G (p.Leu4780Arg) c.14288T>G (p.Leu4763Arg) n.850T>G c.14393T>G (p.Leu4798Arg) c.14390T>G (p.Leu4797Arg) c.14369T>G (p.Leu4790Arg) c.14363T>G (p.Leu4788Arg) c.14357T>G (p.Leu4786Arg) c.14333T>G (p.Leu4778Arg) c.14156T>G (p.Leu4719Arg) c.14300T>G (p.Leu4767Arg) c.14372T>G (p.Leu4791Arg) | |
1 | g.237808942A= | CA2487493385 | RYR2 | c.*5432A= (n.*5432A=) c.14322A= (p.Leu4774=) c.14361A= (p.Leu4787=) c.6511A= c.14340A= (p.Leu4780=) c.14289A= (p.Leu4763=) n.851A= c.14394A= (p.Leu4798=) c.14391A= (p.Leu4797=) c.14370A= (p.Leu4790=) c.14364A= (p.Leu4788=) c.14358A= (p.Leu4786=) c.14334A= (p.Leu4778=) c.14157A= (p.Leu4719=) c.14301A= (p.Leu4767=) c.14373A= (p.Leu4791=) | |
1 | g.237808942A>C | CA424051714 | RYR2 | c.*5432A>C (n.*5432A>C) c.14322A>C (p.Leu4774=) c.14361A>C (p.Leu4787=) c.6511A>C c.14340A>C (p.Leu4780=) c.14289A>C (p.Leu4763=) n.851A>C c.14394A>C (p.Leu4798=) c.14391A>C (p.Leu4797=) c.14370A>C (p.Leu4790=) c.14364A>C (p.Leu4788=) c.14358A>C (p.Leu4786=) c.14334A>C (p.Leu4778=) c.14157A>C (p.Leu4719=) c.14301A>C (p.Leu4767=) c.14373A>C (p.Leu4791=) | |
1 | g.237808942A>G | CA085646 | RYR2 | c.*5432A>G (n.*5432A>G) c.14322A>G (p.Leu4774=) c.14361A>G (p.Leu4787=) c.6511A>G c.14340A>G (p.Leu4780=) c.14289A>G (p.Leu4763=) n.851A>G c.14394A>G (p.Leu4798=) c.14391A>G (p.Leu4797=) c.14370A>G (p.Leu4790=) c.14364A>G (p.Leu4788=) c.14358A>G (p.Leu4786=) c.14334A>G (p.Leu4778=) c.14157A>G (p.Leu4719=) c.14301A>G (p.Leu4767=) c.14373A>G (p.Leu4791=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.237808942A>T | CA424051715 | RYR2 | c.*5432A>T (n.*5432A>T) c.14322A>T (p.Leu4774=) c.14361A>T (p.Leu4787=) c.6511A>T c.14340A>T (p.Leu4780=) c.14289A>T (p.Leu4763=) n.851A>T c.14394A>T (p.Leu4798=) c.14391A>T (p.Leu4797=) c.14370A>T (p.Leu4790=) c.14364A>T (p.Leu4788=) c.14358A>T (p.Leu4786=) c.14334A>T (p.Leu4778=) c.14157A>T (p.Leu4719=) c.14301A>T (p.Leu4767=) c.14373A>T (p.Leu4791=) | |
1 | g.237808943T>A | CA345424189 | RYR2 | c.*5433T>A (n.*5433T>A) c.14323T>A (p.Tyr4775Asn) c.14362T>A (p.Tyr4788Asn) c.6512T>A c.14341T>A (p.Tyr4781Asn) c.14290T>A (p.Tyr4764Asn) n.852T>A c.14395T>A (p.Tyr4799Asn) c.14392T>A (p.Tyr4798Asn) c.14371T>A (p.Tyr4791Asn) c.14365T>A (p.Tyr4789Asn) c.14359T>A (p.Tyr4787Asn) c.14335T>A (p.Tyr4779Asn) c.14158T>A (p.Tyr4720Asn) c.14302T>A (p.Tyr4768Asn) c.14374T>A (p.Tyr4792Asn) | |
1 | g.237808943T>C | CA345424190 | RYR2 | c.*5433T>C (n.*5433T>C) c.14323T>C (p.Tyr4775His) c.14362T>C (p.Tyr4788His) c.6512T>C c.14341T>C (p.Tyr4781His) c.14290T>C (p.Tyr4764His) n.852T>C c.14395T>C (p.Tyr4799His) c.14392T>C (p.Tyr4798His) c.14371T>C (p.Tyr4791His) c.14365T>C (p.Tyr4789His) c.14359T>C (p.Tyr4787His) c.14335T>C (p.Tyr4779His) c.14158T>C (p.Tyr4720His) c.14302T>C (p.Tyr4768His) c.14374T>C (p.Tyr4792His) | ClinVar dbSNP |
1 | g.237808943T>G | CA345424191 | RYR2 | c.*5433T>G (n.*5433T>G) c.14323T>G (p.Tyr4775Asp) c.14362T>G (p.Tyr4788Asp) c.6512T>G c.14341T>G (p.Tyr4781Asp) c.14290T>G (p.Tyr4764Asp) n.852T>G c.14395T>G (p.Tyr4799Asp) c.14392T>G (p.Tyr4798Asp) c.14371T>G (p.Tyr4791Asp) c.14365T>G (p.Tyr4789Asp) c.14359T>G (p.Tyr4787Asp) c.14335T>G (p.Tyr4779Asp) c.14158T>G (p.Tyr4720Asp) c.14302T>G (p.Tyr4768Asp) c.14374T>G (p.Tyr4792Asp) | |
1 | g.237808943T= | CA2487493386 | RYR2 | c.*5433T= (n.*5433T=) c.14323T= (p.Tyr4775=) c.14362T= (p.Tyr4788=) c.6512T= c.14341T= (p.Tyr4781=) c.14290T= (p.Tyr4764=) n.852T= c.14395T= (p.Tyr4799=) c.14392T= (p.Tyr4798=) c.14371T= (p.Tyr4791=) c.14365T= (p.Tyr4789=) c.14359T= (p.Tyr4787=) c.14335T= (p.Tyr4779=) c.14158T= (p.Tyr4720=) c.14302T= (p.Tyr4768=) c.14374T= (p.Tyr4792=) | |
1 | g.237808944A>C | CA345424192 | RYR2 | c.*5434A>C (n.*5434A>C) c.14324A>C (p.Tyr4775Ser) c.14363A>C (p.Tyr4788Ser) c.6513A>C c.14342A>C (p.Tyr4781Ser) c.14291A>C (p.Tyr4764Ser) n.853A>C c.14396A>C (p.Tyr4799Ser) c.14393A>C (p.Tyr4798Ser) c.14372A>C (p.Tyr4791Ser) c.14366A>C (p.Tyr4789Ser) c.14360A>C (p.Tyr4787Ser) c.14336A>C (p.Tyr4779Ser) c.14159A>C (p.Tyr4720Ser) c.14303A>C (p.Tyr4768Ser) c.14375A>C (p.Tyr4792Ser) | |
1 | g.237808944A>G | CA345424193 | RYR2 | c.*5434A>G (n.*5434A>G) c.14324A>G (p.Tyr4775Cys) c.14363A>G (p.Tyr4788Cys) c.6513A>G c.14342A>G (p.Tyr4781Cys) c.14291A>G (p.Tyr4764Cys) n.853A>G c.14396A>G (p.Tyr4799Cys) c.14393A>G (p.Tyr4798Cys) c.14372A>G (p.Tyr4791Cys) c.14366A>G (p.Tyr4789Cys) c.14360A>G (p.Tyr4787Cys) c.14336A>G (p.Tyr4779Cys) c.14159A>G (p.Tyr4720Cys) c.14303A>G (p.Tyr4768Cys) c.14375A>G (p.Tyr4792Cys) | ClinVar dbSNP |
1 | g.237808944A>T | CA345424194 | RYR2 | c.*5434A>T (n.*5434A>T) c.14324A>T (p.Tyr4775Phe) c.14363A>T (p.Tyr4788Phe) c.6513A>T c.14342A>T (p.Tyr4781Phe) c.14291A>T (p.Tyr4764Phe) n.853A>T c.14396A>T (p.Tyr4799Phe) c.14393A>T (p.Tyr4798Phe) c.14372A>T (p.Tyr4791Phe) c.14366A>T (p.Tyr4789Phe) c.14360A>T (p.Tyr4787Phe) c.14336A>T (p.Tyr4779Phe) c.14159A>T (p.Tyr4720Phe) c.14303A>T (p.Tyr4768Phe) c.14375A>T (p.Tyr4792Phe) | |
1 | g.237808945C>A | CA345424195 | RYR2 | c.*5435C>A (n.*5435C>A) c.14325C>A (p.Tyr4775Ter) c.14364C>A (p.Tyr4788Ter) c.6514C>A c.14343C>A (p.Tyr4781Ter) c.14292C>A (p.Tyr4764Ter) n.854C>A c.14397C>A (p.Tyr4799Ter) c.14394C>A (p.Tyr4798Ter) c.14373C>A (p.Tyr4791Ter) c.14367C>A (p.Tyr4789Ter) c.14361C>A (p.Tyr4787Ter) c.14337C>A (p.Tyr4779Ter) c.14160C>A (p.Tyr4720Ter) c.14304C>A (p.Tyr4768Ter) c.14376C>A (p.Tyr4792Ter) | |
1 | g.237808945C>G | CA345424196 | RYR2 | c.*5435C>G (n.*5435C>G) c.14325C>G (p.Tyr4775Ter) c.14364C>G (p.Tyr4788Ter) c.6514C>G c.14343C>G (p.Tyr4781Ter) c.14292C>G (p.Tyr4764Ter) n.854C>G c.14397C>G (p.Tyr4799Ter) c.14394C>G (p.Tyr4798Ter) c.14373C>G (p.Tyr4791Ter) c.14367C>G (p.Tyr4789Ter) c.14361C>G (p.Tyr4787Ter) c.14337C>G (p.Tyr4779Ter) c.14160C>G (p.Tyr4720Ter) c.14304C>G (p.Tyr4768Ter) c.14376C>G (p.Tyr4792Ter) | |
1 | g.237808945C>T | CA424051716 | RYR2 | c.*5435C>T (n.*5435C>T) c.14325C>T (p.Tyr4775=) c.14364C>T (p.Tyr4788=) c.6514C>T c.14343C>T (p.Tyr4781=) c.14292C>T (p.Tyr4764=) n.854C>T c.14397C>T (p.Tyr4799=) c.14394C>T (p.Tyr4798=) c.14373C>T (p.Tyr4791=) c.14367C>T (p.Tyr4789=) c.14361C>T (p.Tyr4787=) c.14337C>T (p.Tyr4779=) c.14160C>T (p.Tyr4720=) c.14304C>T (p.Tyr4768=) c.14376C>T (p.Tyr4792=) | gnomAD v4 |
1 | g.237808946A= | CA2487493387 | RYR2 | c.*5436A= (n.*5436A=) c.14326A= (p.Thr4776=) c.14365A= (p.Thr4789=) c.6515A= c.14344A= (p.Thr4782=) c.14293A= (p.Thr4765=) n.855A= c.14398A= (p.Thr4800=) c.14395A= (p.Thr4799=) c.14374A= (p.Thr4792=) c.14368A= (p.Thr4790=) c.14362A= (p.Thr4788=) c.14338A= (p.Thr4780=) c.14161A= (p.Thr4721=) c.14305A= (p.Thr4769=) c.14377A= (p.Thr4793=) | |
1 | g.237808946A>C | CA345424198 | RYR2 | c.*5436A>C (n.*5436A>C) c.14326A>C (p.Thr4776Pro) c.14365A>C (p.Thr4789Pro) c.6515A>C c.14344A>C (p.Thr4782Pro) c.14293A>C (p.Thr4765Pro) n.855A>C c.14398A>C (p.Thr4800Pro) c.14395A>C (p.Thr4799Pro) c.14374A>C (p.Thr4792Pro) c.14368A>C (p.Thr4790Pro) c.14362A>C (p.Thr4788Pro) c.14338A>C (p.Thr4780Pro) c.14161A>C (p.Thr4721Pro) c.14305A>C (p.Thr4769Pro) c.14377A>C (p.Thr4793Pro) | |
1 | g.237808946A>G | CA085647 | RYR2 | c.*5436A>G (n.*5436A>G) c.14326A>G (p.Thr4776Ala) c.14365A>G (p.Thr4789Ala) c.6515A>G c.14344A>G (p.Thr4782Ala) c.14293A>G (p.Thr4765Ala) n.855A>G c.14398A>G (p.Thr4800Ala) c.14395A>G (p.Thr4799Ala) c.14374A>G (p.Thr4792Ala) c.14368A>G (p.Thr4790Ala) c.14362A>G (p.Thr4788Ala) c.14338A>G (p.Thr4780Ala) c.14161A>G (p.Thr4721Ala) c.14305A>G (p.Thr4769Ala) c.14377A>G (p.Thr4793Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.237808946A>T | CA345424200 | RYR2 | c.*5436A>T (n.*5436A>T) c.14326A>T (p.Thr4776Ser) c.14365A>T (p.Thr4789Ser) c.6515A>T c.14344A>T (p.Thr4782Ser) c.14293A>T (p.Thr4765Ser) n.855A>T c.14398A>T (p.Thr4800Ser) c.14395A>T (p.Thr4799Ser) c.14374A>T (p.Thr4792Ser) c.14368A>T (p.Thr4790Ser) c.14362A>T (p.Thr4788Ser) c.14338A>T (p.Thr4780Ser) c.14161A>T (p.Thr4721Ser) c.14305A>T (p.Thr4769Ser) c.14377A>T (p.Thr4793Ser) | gnomAD v4 |
1 | g.237808947C>A | CA345424202 | RYR2 | c.*5437C>A (n.*5437C>A) c.14327C>A (p.Thr4776Asn) c.14366C>A (p.Thr4789Asn) c.6516C>A c.14345C>A (p.Thr4782Asn) c.14294C>A (p.Thr4765Asn) n.856C>A c.14399C>A (p.Thr4800Asn) c.14396C>A (p.Thr4799Asn) c.14375C>A (p.Thr4792Asn) c.14369C>A (p.Thr4790Asn) c.14363C>A (p.Thr4788Asn) c.14339C>A (p.Thr4780Asn) c.14162C>A (p.Thr4721Asn) c.14306C>A (p.Thr4769Asn) c.14378C>A (p.Thr4793Asn) | dbSNP |
1 | g.237808947C= | CA2487493388 | RYR2 | c.*5437C= (n.*5437C=) c.14327C= (p.Thr4776=) c.14366C= (p.Thr4789=) c.6516C= c.14345C= (p.Thr4782=) c.14294C= (p.Thr4765=) n.856C= c.14399C= (p.Thr4800=) c.14396C= (p.Thr4799=) c.14375C= (p.Thr4792=) c.14369C= (p.Thr4790=) c.14363C= (p.Thr4788=) c.14339C= (p.Thr4780=) c.14162C= (p.Thr4721=) c.14306C= (p.Thr4769=) c.14378C= (p.Thr4793=) | |
1 | g.237808947C>G | CA345424206 | RYR2 | c.*5437C>G (n.*5437C>G) c.14327C>G (p.Thr4776Ser) c.14366C>G (p.Thr4789Ser) c.6516C>G c.14345C>G (p.Thr4782Ser) c.14294C>G (p.Thr4765Ser) n.856C>G c.14399C>G (p.Thr4800Ser) c.14396C>G (p.Thr4799Ser) c.14375C>G (p.Thr4792Ser) c.14369C>G (p.Thr4790Ser) c.14363C>G (p.Thr4788Ser) c.14339C>G (p.Thr4780Ser) c.14162C>G (p.Thr4721Ser) c.14306C>G (p.Thr4769Ser) c.14378C>G (p.Thr4793Ser) | |
1 | g.237808947C>T | CA345424204 | RYR2 | c.*5437C>T (n.*5437C>T) c.14327C>T (p.Thr4776Ile) c.14366C>T (p.Thr4789Ile) c.6516C>T c.14345C>T (p.Thr4782Ile) c.14294C>T (p.Thr4765Ile) n.856C>T c.14399C>T (p.Thr4800Ile) c.14396C>T (p.Thr4799Ile) c.14375C>T (p.Thr4792Ile) c.14369C>T (p.Thr4790Ile) c.14363C>T (p.Thr4788Ile) c.14339C>T (p.Thr4780Ile) c.14162C>T (p.Thr4721Ile) c.14306C>T (p.Thr4769Ile) c.14378C>T (p.Thr4793Ile) | COSMIC |
1 | g.237808948T>A | CA424051717 | RYR2 | c.*5438T>A (n.*5438T>A) c.14328T>A (p.Thr4776=) c.14367T>A (p.Thr4789=) c.6517T>A c.14346T>A (p.Thr4782=) c.14295T>A (p.Thr4765=) n.857T>A c.14400T>A (p.Thr4800=) c.14397T>A (p.Thr4799=) c.14376T>A (p.Thr4792=) c.14370T>A (p.Thr4790=) c.14364T>A (p.Thr4788=) c.14340T>A (p.Thr4780=) c.14163T>A (p.Thr4721=) c.14307T>A (p.Thr4769=) c.14379T>A (p.Thr4793=) | |
1 | g.237808948T>C | CA424051718 | RYR2 | c.*5438T>C (n.*5438T>C) c.14328T>C (p.Thr4776=) c.14367T>C (p.Thr4789=) c.6517T>C c.14346T>C (p.Thr4782=) c.14295T>C (p.Thr4765=) n.857T>C c.14400T>C (p.Thr4800=) c.14397T>C (p.Thr4799=) c.14376T>C (p.Thr4792=) c.14370T>C (p.Thr4790=) c.14364T>C (p.Thr4788=) c.14340T>C (p.Thr4780=) c.14163T>C (p.Thr4721=) c.14307T>C (p.Thr4769=) c.14379T>C (p.Thr4793=) | ClinVar dbSNP gnomAD v4 |
1 | g.237808948T>G | CA424051719 | RYR2 | c.*5438T>G (n.*5438T>G) c.14328T>G (p.Thr4776=) c.14367T>G (p.Thr4789=) c.6517T>G c.14346T>G (p.Thr4782=) c.14295T>G (p.Thr4765=) n.857T>G c.14400T>G (p.Thr4800=) c.14397T>G (p.Thr4799=) c.14376T>G (p.Thr4792=) c.14370T>G (p.Thr4790=) c.14364T>G (p.Thr4788=) c.14340T>G (p.Thr4780=) c.14163T>G (p.Thr4721=) c.14307T>G (p.Thr4769=) c.14379T>G (p.Thr4793=) | gnomAD v4 |
1 | g.237808948T= | CA2487493389 | RYR2 | c.*5438T= (n.*5438T=) c.14328T= (p.Thr4776=) c.14367T= (p.Thr4789=) c.6517T= c.14346T= (p.Thr4782=) c.14295T= (p.Thr4765=) n.857T= c.14400T= (p.Thr4800=) c.14397T= (p.Thr4799=) c.14376T= (p.Thr4792=) c.14370T= (p.Thr4790=) c.14364T= (p.Thr4788=) c.14340T= (p.Thr4780=) c.14163T= (p.Thr4721=) c.14307T= (p.Thr4769=) c.14379T= (p.Thr4793=) | |
1 | g.237808949G>A | CA345424208 | RYR2 | c.*5439G>A (n.*5439G>A) c.14329G>A (p.Val4777Met) c.14368G>A (p.Val4790Met) c.6518G>A c.14347G>A (p.Val4783Met) c.14296G>A (p.Val4766Met) n.858G>A c.14401G>A (p.Val4801Met) c.14398G>A (p.Val4800Met) c.14377G>A (p.Val4793Met) c.14371G>A (p.Val4791Met) c.14365G>A (p.Val4789Met) c.14341G>A (p.Val4781Met) c.14164G>A (p.Val4722Met) c.14308G>A (p.Val4770Met) c.14380G>A (p.Val4794Met) | |
1 | g.237808949G>C | CA345424210 | RYR2 | c.*5439G>C (n.*5439G>C) c.14329G>C (p.Val4777Leu) c.14368G>C (p.Val4790Leu) c.6518G>C c.14347G>C (p.Val4783Leu) c.14296G>C (p.Val4766Leu) n.858G>C c.14401G>C (p.Val4801Leu) c.14398G>C (p.Val4800Leu) c.14377G>C (p.Val4793Leu) c.14371G>C (p.Val4791Leu) c.14365G>C (p.Val4789Leu) c.14341G>C (p.Val4781Leu) c.14164G>C (p.Val4722Leu) c.14308G>C (p.Val4770Leu) c.14380G>C (p.Val4794Leu) | |
1 | g.237808949G>T | CA345424211 | RYR2 | c.*5439G>T (n.*5439G>T) c.14329G>T (p.Val4777Leu) c.14368G>T (p.Val4790Leu) c.6518G>T c.14347G>T (p.Val4783Leu) c.14296G>T (p.Val4766Leu) n.858G>T c.14401G>T (p.Val4801Leu) c.14398G>T (p.Val4800Leu) c.14377G>T (p.Val4793Leu) c.14371G>T (p.Val4791Leu) c.14365G>T (p.Val4789Leu) c.14341G>T (p.Val4781Leu) c.14164G>T (p.Val4722Leu) c.14308G>T (p.Val4770Leu) c.14380G>T (p.Val4794Leu) | ClinVar dbSNP |
1 | g.237808953_237808955del | CA2651216736 | RYR2 | c.*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 |
1 | g.237808950T>A | CA345424213 | RYR2 | c.*5440T>A (n.*5440T>A) c.14330T>A (p.Val4777Glu) c.14369T>A (p.Val4790Glu) c.6519T>A c.14348T>A (p.Val4783Glu) c.14297T>A (p.Val4766Glu) n.859T>A c.14402T>A (p.Val4801Glu) c.14399T>A (p.Val4800Glu) c.14378T>A (p.Val4793Glu) c.14372T>A (p.Val4791Glu) c.14366T>A (p.Val4789Glu) c.14342T>A (p.Val4781Glu) c.14165T>A (p.Val4722Glu) c.14309T>A (p.Val4770Glu) c.14381T>A (p.Val4794Glu) | |
1 | g.237808950T>C | CA345424215 | RYR2 | c.*5440T>C (n.*5440T>C) c.14330T>C (p.Val4777Ala) c.14369T>C (p.Val4790Ala) c.6519T>C c.14348T>C (p.Val4783Ala) c.14297T>C (p.Val4766Ala) n.859T>C c.14402T>C (p.Val4801Ala) c.14399T>C (p.Val4800Ala) c.14378T>C (p.Val4793Ala) c.14372T>C (p.Val4791Ala) c.14366T>C (p.Val4789Ala) c.14342T>C (p.Val4781Ala) c.14165T>C (p.Val4722Ala) c.14309T>C (p.Val4770Ala) c.14381T>C (p.Val4794Ala) | |
1 | g.237808950T>G | CA345424218 | RYR2 | c.*5440T>G (n.*5440T>G) c.14330T>G (p.Val4777Gly) c.14369T>G (p.Val4790Gly) c.6519T>G c.14348T>G (p.Val4783Gly) c.14297T>G (p.Val4766Gly) n.859T>G c.14402T>G (p.Val4801Gly) c.14399T>G (p.Val4800Gly) c.14378T>G (p.Val4793Gly) c.14372T>G (p.Val4791Gly) c.14366T>G (p.Val4789Gly) c.14342T>G (p.Val4781Gly) c.14165T>G (p.Val4722Gly) c.14309T>G (p.Val4770Gly) c.14381T>G (p.Val4794Gly) | |
1 | g.237808951G>A | CA424051720 | RYR2 | c.*5441G>A (n.*5441G>A) c.14331G>A (p.Val4777=) c.14370G>A (p.Val4790=) c.6520G>A c.14349G>A (p.Val4783=) c.14298G>A (p.Val4766=) n.860G>A c.14403G>A (p.Val4801=) c.14400G>A (p.Val4800=) c.14379G>A (p.Val4793=) c.14373G>A (p.Val4791=) c.14367G>A (p.Val4789=) c.14343G>A (p.Val4781=) c.14166G>A (p.Val4722=) c.14310G>A (p.Val4770=) c.14382G>A (p.Val4794=) | |
1 | g.237808951G>C | CA424051721 | RYR2 | c.*5441G>C (n.*5441G>C) c.14331G>C (p.Val4777=) c.14370G>C (p.Val4790=) c.6520G>C c.14349G>C (p.Val4783=) c.14298G>C (p.Val4766=) n.860G>C c.14403G>C (p.Val4801=) c.14400G>C (p.Val4800=) c.14379G>C (p.Val4793=) c.14373G>C (p.Val4791=) c.14367G>C (p.Val4789=) c.14343G>C (p.Val4781=) c.14166G>C (p.Val4722=) c.14310G>C (p.Val4770=) c.14382G>C (p.Val4794=) | |
1 | g.237808951G>T | CA424051722 | RYR2 | c.*5441G>T (n.*5441G>T) c.14331G>T (p.Val4777=) c.14370G>T (p.Val4790=) c.6520G>T c.14349G>T (p.Val4783=) c.14298G>T (p.Val4766=) n.860G>T c.14403G>T (p.Val4801=) c.14400G>T (p.Val4800=) c.14379G>T (p.Val4793=) c.14373G>T (p.Val4791=) c.14367G>T (p.Val4789=) c.14343G>T (p.Val4781=) c.14166G>T (p.Val4722=) c.14310G>T (p.Val4770=) c.14382G>T (p.Val4794=) | |
1 | g.237808952G>A | CA345424219 | RYR2 | c.*5442G>A (n.*5442G>A) c.14332G>A (p.Val4778Met) c.14371G>A (p.Val4791Met) c.6521G>A c.14350G>A (p.Val4784Met) c.14299G>A (p.Val4767Met) n.861G>A c.14404G>A (p.Val4802Met) c.14401G>A (p.Val4801Met) c.14380G>A (p.Val4794Met) c.14374G>A (p.Val4792Met) c.14368G>A (p.Val4790Met) c.14344G>A (p.Val4782Met) c.14167G>A (p.Val4723Met) c.14311G>A (p.Val4771Met) c.14383G>A (p.Val4795Met) | gnomAD v4 |
1 | g.237808952G>C | CA345424220 | RYR2 | c.*5442G>C (n.*5442G>C) c.14332G>C (p.Val4778Leu) c.14371G>C (p.Val4791Leu) c.6521G>C c.14350G>C (p.Val4784Leu) c.14299G>C (p.Val4767Leu) n.861G>C c.14404G>C (p.Val4802Leu) c.14401G>C (p.Val4801Leu) c.14380G>C (p.Val4794Leu) c.14374G>C (p.Val4792Leu) c.14368G>C (p.Val4790Leu) c.14344G>C (p.Val4782Leu) c.14167G>C (p.Val4723Leu) c.14311G>C (p.Val4771Leu) c.14383G>C (p.Val4795Leu) | |
1 | g.237808952G>T | CA345424222 | RYR2 | c.*5442G>T (n.*5442G>T) c.14332G>T (p.Val4778Leu) c.14371G>T (p.Val4791Leu) c.6521G>T c.14350G>T (p.Val4784Leu) c.14299G>T (p.Val4767Leu) n.861G>T c.14404G>T (p.Val4802Leu) c.14401G>T (p.Val4801Leu) c.14380G>T (p.Val4794Leu) c.14374G>T (p.Val4792Leu) c.14368G>T (p.Val4790Leu) c.14344G>T (p.Val4782Leu) c.14167G>T (p.Val4723Leu) c.14311G>T (p.Val4771Leu) c.14383G>T (p.Val4795Leu) | |
1 | g.237808953T>A | CA345424225 | RYR2 | c.*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) | |
1 | g.237808953T>C | CA345424227 | RYR2 | c.*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) | |
1 | g.237808953T>G | CA345424224 | RYR2 | c.*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) | |
1 | g.237808954G>A | CA085649 | RYR2 | c.*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 |
1 | g.237808954G>C | CA424051723 | RYR2 | c.*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=) | |
1 | g.237808954G= | CA2487493390 | RYR2 | c.*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=) | |
1 | g.237808954G>T | CA424051724 | RYR2 | c.*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 |
1 | g.237808955G>A | CA345424229 | RYR2 | c.*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) | |
1 | g.237808955G>C | CA345424231 | RYR2 | c.*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) | |
1 | g.237808955G>T | CA345424233 | RYR2 | c.*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) | |
1 | g.237808956C>A | CA345424235 | RYR2 | c.*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) | |
1 | g.237808956C>G | CA345424236 | RYR2 | c.*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) | |
1 | g.237808956C>T | CA345424238 | RYR2 | c.*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) | |
1 | g.237808957A= | CA2487493391 | RYR2 | c.*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=) | |
1 | g.237808957A>C | CA424051725 | RYR2 | c.*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=) | |
1 | g.237808957A>G | CA424051726 | RYR2 | c.*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 |
1 | g.237808957A>T | CA424051727 | RYR2 | c.*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=) | |
1 | g.237808958T>A | CA345424239 | RYR2 | c.*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) | |
1 | g.237808958T>C | CA345424240 | RYR2 | c.*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) | |
1 | g.237808958T>G | CA345424242 | RYR2 | c.*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) | |
1 | g.237808959T>A | CA345424244 | RYR2 | c.*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) | |
1 | g.237808959T>C | CA345424246 | RYR2 | c.*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) | |
1 | g.237808959T>G | CA345424248 | RYR2 | c.*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) | |
1 | g.237808960C>A | CA345424251 | RYR2 | c.*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) | |
1 | g.237808960C>G | CA345424250 | RYR2 | c.*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) | |
1 | g.237808960C>T | CA424051728 | RYR2 | c.*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=) | |
1 | g.237808961A>C | CA345424253 | RYR2 | c.*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 |
1 | g.237808961A>G | CA345424255 | RYR2 | c.*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) | |
1 | g.237808961A>T | CA345424259 | RYR2 | c.*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) | |
1 | g.237808962A= | CA2487493392 | RYR2 | c.*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=) | |
1 | g.237808962A>C | CA345424262 | RYR2 | c.*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) | |
1 | g.237808962A>G | CA345424264 | RYR2 | c.*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 |
1 | g.237808962A>T | CA345424266 | RYR2 | c.*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 |
1 | g.237808963T>A | CA345424267 | RYR2 | c.*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) | |
1 | g.237808963T>C | CA424051729 | RYR2 | c.*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 |
1 | g.237808963T>G | CA345424268 | RYR2 | c.*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 |
1 | g.237808963T= | CA2487493393 | RYR2 | c.*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=) | |
1 | g.237808968dup | CA645515560 | RYR2 | c.*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 |
1 | g.237808968del | CA2825000939 | RYR2 | c.*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 |
1 | g.237808964T>A | CA345424270 | RYR2 | c.*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) | |
1 | g.237808964T>C | CA345424272 | RYR2 | c.*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) | |
1 | g.237808964T>G | CA345424274 | RYR2 | c.*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) | |
1 | g.237808965T>A | CA345424275 | RYR2 | c.*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) | |
1 | g.237808965T>C | CA345424277 | RYR2 | c.*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) | |
1 | g.237808965T>G | CA345424279 | RYR2 | c.*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 |
1 | g.237808966T>A | CA345424282 | RYR2 | c.*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) | |
1 | g.237808966T>C | CA424051730 | RYR2 | c.*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=) | |
1 | g.237808966T>G | CA345424280 | RYR2 | c.*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 |
1 | g.237808967T>A | CA345424283 | RYR2 | c.*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) | |
1 | g.237808967T>C | CA345424285 | RYR2 | c.*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) | |
1 | g.237808967T>G | CA345424284 | RYR2 | c.*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) | |
1 | g.237808968T>A | CA345424288 | RYR2 | c.*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) | |
1 | g.237808968T>C | CA345424290 | RYR2 | c.*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) | |
1 | g.237808968T>G | CA345424292 | RYR2 | c.*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) | |
1 | g.237808969C>A | CA345424294 | RYR2 | c.*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) | |
1 | g.237808969C>G | CA345424296 | RYR2 | c.*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) | |
1 | g.237808969C>T | CA424051731 | RYR2 | c.*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=) | |
1 | g.237808970C>A | CA424051732 | RYR2 | c.*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 |
1 | g.237808970C= | CA2487493394 | RYR2 | c.*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=) | |
1 | g.237808970C>G | CA345424298 | RYR2 | c.*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) | |
1 | g.237808970C>T | CA345424300 | RYR2 | c.*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 |
1 | g.237808971G>A | CA085650 | RYR2 | c.*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 |
1 | g.237808971G>C | CA345424304 | RYR2 | c.*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) | |
1 | g.237808971G= | CA2487493395 | RYR2 | c.*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=) | |
1 | g.237808971G>T | CA345424306 | RYR2 | c.*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 |
1 | g.237808972A>C | CA424051733 | RYR2 | c.*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=) | |
1 | g.237808972A>G | CA424051734 | RYR2 | c.*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=) | |
1 | g.237808972A>T | CA424051735 | RYR2 | c.*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=) | |
1 | g.237808973A>C | CA345424308 | RYR2 | c.*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) | |
1 | g.237808973A>G | CA345424309 | RYR2 | c.*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) | |
1 | g.237808973A>T | CA345424311 | RYR2 | c.*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) | |
1 | g.237808974A= | CA2487493396 | RYR2 | c.*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=) | |
1 | g.237808974A>C | CA345424313 | RYR2 | c.*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 |
1 | g.237808974A>G | CA345424315 | RYR2 | c.*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) | |
1 | g.237808974A>T | CA16603655 | RYR2 | c.*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 |
1 | g.237808975A>C | CA345424317 | RYR2 | c.*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 |
1 | g.237808975A>G | CA424051736 | RYR2 | c.*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 |
1 | g.237808975A>T | CA345424319 | RYR2 | c.*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) | |
1 | g.237808976T>A | CA345424326 | RYR2 | c.*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) | |
1 | g.237808976T>C | CA345424328 | RYR2 | c.*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 |
1 | g.237808976T>G | CA345424330 | RYR2 | c.*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 |
1 | g.237808977T>A | CA345424332 | RYR2 | c.*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) | |
1 | g.237808977T>C | CA345424333 | RYR2 | c.*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 |
1 | g.237808977T>G | CA345424334 | RYR2 | c.*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) | |
1 | g.237808978C>A | CA345424335 | RYR2 | c.*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) | |
1 | g.237808978C>G | CA345424337 | RYR2 | c.*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) | |
1 | g.237808978C>T | CA424051737 | RYR2 | c.*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 |
1 | g.237808979T>A | CA345424339 | RYR2 | c.*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) | |
1 | g.237808979T>C | CA345424342 | RYR2 | c.*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) | |
1 | g.237808979T>G | CA068243 | RYR2 | c.*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) | |
1 | g.237808980A>C | CA345424344 | RYR2 | c.*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) | |
1 | g.237808980A>G | CA345424346 | RYR2 | c.*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) | |
1 | g.237808980A>T | CA345424348 | RYR2 | c.*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) | |
1 | g.237808981C>A | CA345424350 | RYR2 | c.*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) | |
1 | g.237808981C>G | CA345424352 | RYR2 | c.*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) | |
1 | g.237808981C>T | CA068314 | RYR2 | c.*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=) | |
1 | g.237808982A>C | CA345424355 | RYR2 | c.*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 |
1 | g.237808982A>G | CA345424356 | RYR2 | c.*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) | |
1 | g.237808982A>T | CA345424358 | RYR2 | c.*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) | |
1 | g.237808983A>C | CA345424361 | RYR2 | c.*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) | |
1 | g.237808983A>G | CA345424362 | RYR2 | c.*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 |
1 | g.237808983A>T | CA345424364 | RYR2 | c.*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) | |
1 | g.237808984T>A | CA345424366 | RYR2 | c.*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) | |
1 | g.237808984T>C | CA068251 | RYR2 | c.*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=) | |
1 | g.237808984T>G | CA345424368 | RYR2 | c.*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) | |
1 | g.237808985A= | CA2487493397 | RYR2 | c.*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=) | |
1 | g.237808985A>C | CA345424372 | RYR2 | c.*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) | |
1 | g.237808985A>G | CA345424370 | RYR2 | c.*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 |
1 | g.237808985A>T | CA345424369 | RYR2 | c.*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) | |
1 | g.237808986A= | CA2487493398 | RYR2 | c.*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=) | |
1 | g.237808986A>C | CA345424373 | RYR2 | c.*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) | |
1 | g.237808986A>G | CA345424375 | RYR2 | c.*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 |
1 | g.237808986A>T | CA345424376 | RYR2 | c.*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) | |
1 | g.237808987A= | CA2487493399 | RYR2 | c.*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=) | |
1 | g.237808987A>C | CA345424378 | RYR2 | c.*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) | |
1 | g.237808987A>G | CA424051738 | RYR2 | c.*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 |
1 | g.237808987A>T | CA345424380 | RYR2 | c.*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) | |
1 | g.237808988A>C | CA345424382 | RYR2 | c.*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) | |
1 | g.237808988A>G | CA345424384 | RYR2 | c.*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) | |
1 | g.237808988A>T | CA345424385 | RYR2 | c.*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) | |
1 | g.237808989G>A | CA345424387 | RYR2 | c.*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 |
1 | g.237808989G>C | CA345424388 | RYR2 | c.*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) | |
1 | g.237808989G= | CA2487493400 | RYR2 | c.*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=) | |
1 | g.237808989G>T | CA345424389 | RYR2 | c.*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 |
1 | g.237808990T>A | CA345424390 | RYR2 | c.*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) | |
1 | g.237808990T>C | CA424051739 | RYR2 | c.*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 |
1 | g.237808990T>G | CA345424392 | RYR2 | c.*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) | |
1 | g.237808991G>A | CA345424395 | RYR2 | c.*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 |
1 | g.237808991G>C | CA345424398 | RYR2 | c.*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) | |
1 | g.237808991G= | CA2487493401 | RYR2 | c.*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=) | |
1 | g.237808991G>T | CA345424396 | RYR2 | c.*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) | |
1 | g.237808992A>C | CA345424400 | RYR2 | c.*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) | |
1 | g.237808992A>G | CA345424403 | RYR2 | c.*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) | |
1 | g.237808992A>T | CA345424401 | RYR2 | c.*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) | |
1 | g.237808993A>C | CA345424405 | RYR2 | c.*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) | |
1 | g.237808993A>G | CA424051740 | RYR2 | c.*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=) | |
1 | g.237808993A>T | CA345424406 | RYR2 | c.*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) | |
1 | g.237808994G>A | CA345424409 | RYR2 | c.*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 |
1 | g.237808994G>C | CA345424411 | RYR2 | c.*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) | |
1 | g.237808994G= | CA2487493402 | RYR2 | c.*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=) | |
1 | g.237808994G>T | CA345424413 | RYR2 | c.*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 |
1 | g.237808995A>C | CA345424414 | RYR2 | c.*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) | |
1 | g.237808995A>G | CA345424416 | RYR2 | c.*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 |
1 | g.237808995A>T | CA345424418 | RYR2 | c.*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) | |
1 | g.237808996T>A | CA345424420 | RYR2 | c.*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) | |
1 | g.237808996T>C | CA424051741 | RYR2 | c.*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=) | |
1 | g.237808996T>G | CA345424422 | RYR2 | c.*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) | |
1 | g.237808997G>A | CA345424423 | RYR2 | c.*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 |
1 | g.237808997G>C | CA345424425 | RYR2 | c.*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) | |
1 | g.237808997G>T | CA345424427 | RYR2 | c.*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) | |
1 | g.237808998G>A | CA345424433 | RYR2 | c.*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) | |
1 | g.237808998G>C | CA345424431 | RYR2 | c.*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) | |
1 | g.237808998G>T | CA345424429 | RYR2 | c.*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) | |
1 | g.237808999T>A | CA424051742 | RYR2 | c.*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=) | |
1 | g.237808999T>C | CA424051743 | RYR2 | c.*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=) | |
1 | g.237808999T>G | CA424051744 | RYR2 | c.*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=) | |
1 | g.237809000G>A | CA345424435 | RYR2 | c.*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 |
1 | g.237809000G>C | CA345424438 | RYR2 | c.*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) | |
1 | g.237809000G= | CA2487493403 | RYR2 | c.*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=) | |
1 | g.237809000G>T | CA345424439 | RYR2 | c.*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) | |
1 | g.237809001A>C | CA345424449 | RYR2 | c.*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) | |
1 | g.237809001A>G | CA068264 | RYR2 | c.*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 |
1 | g.237809001A>T | CA345424450 | RYR2 | c.*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) | |
1 | g.237809001_237809003del | CA2697547705 | RYR2 | c.*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 |
1 | g.237809002T>A | CA345424452 | RYR2 | c.*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 |
1 | g.237809002T>C | CA424051745 | RYR2 | c.*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 |
1 | g.237809002T>G | CA345424454 | RYR2 | c.*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) | |
1 | g.237809002T= | CA2487493404 | RYR2 | c.*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=) | |
1 | g.237809003A>C | CA345424456 | RYR2 | c.*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) | |
1 | g.237809003A>G | CA345424458 | RYR2 | c.*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 |
1 | g.237809003A>T | CA345424459 | RYR2 | c.*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) | |
1 | g.237809005_237809006del | CA068267 | RYR2 | c.*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 |
1 | g.237809004C>A | CA345424461 | RYR2 | c.*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) | |
1 | g.237809004C= | CA2487493405 | RYR2 | c.*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=) | |
1 | g.237809004C>G | CA345424462 | RYR2 | c.*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) | |
1 | g.237809004C>T | CA345424463 | RYR2 | c.*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 |
1 | g.237809005A>C | CA424051746 | RYR2 | c.*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=) | |
1 | g.237809005A>G | CA424051747 | RYR2 | c.*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 |
1 | g.237809005A>T | CA424051748 | RYR2 | c.*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=) | |
1 | g.237809005_237809012dup | CA2840624480 | RYR2 | c.*5495_*5502dup (n.*5495_*5502dup) c.14385_14392dup (p.Met4798AsnfsTer4) c.14424_14431dup (p.Met4811AsnfsTer4) c.6574_6581dup c.14403_14410dup (p.Met4804AsnfsTer4) c.14352_14359dup (p.Met4787AsnfsTer4) n.914_921dup c.14457_14464dup (p.Met4822AsnfsTer4) c.14454_14461dup (p.Met4821AsnfsTer4) c.14433_14440dup (p.Met4814AsnfsTer4) c.14427_14434dup (p.Met4812AsnfsTer4) c.14421_14428dup (p.Met4810AsnfsTer4) c.14397_14404dup (p.Met4802AsnfsTer4) c.14220_14227dup (p.Met4743AsnfsTer4) c.14364_14371dup (p.Met4791AsnfsTer4) c.14436_14443dup (p.Met4815AsnfsTer4) | |
1 | g.237809006C>A | CA345424470 | RYR2 | c.*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) | |
1 | g.237809006C= | CA2487493406 | RYR2 | c.*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=) | |
1 | g.237809006C>G | CA345424468 | RYR2 | c.*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) | |
1 | g.237809006C>T | CA085652 | RYR2 | c.*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 |
1 | g.237809007C>A | CA345424472 | RYR2 | c.*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) | |
1 | g.237809007C= | CA2487493407 | RYR2 | c.*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=) | |
1 | g.237809007C>G | CA345424473 | RYR2 | c.*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) | |
1 | g.237809007C>T | CA345424474 | RYR2 | c.*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 |
1 | g.237809008A= | CA2487493408 | RYR2 | c.*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=) | |
1 | g.237809008A>C | CA424051749 | RYR2 | c.*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=) | |
1 | g.237809008A>G | CA085653 | RYR2 | c.*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 |
1 | g.237809008A>T | CA424051750 | RYR2 | c.*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=) | |
1 | g.237809009G>A | CA345424475 | RYR2 | c.*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) | |
1 | g.237809009G>C | CA345424478 | RYR2 | c.*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) | |
1 | g.237809009G>T | CA345424479 | RYR2 | c.*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) | |
1 | g.237809010A>C | CA345424481 | RYR2 | c.*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) | |
1 | g.237809010A>G | CA345424482 | RYR2 | c.*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) | |
1 | g.237809010A>T | CA345424483 | RYR2 | c.*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) | |
1 | g.237809011T>A | CA345424485 | RYR2 | c.*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) | |
1 | g.237809011T>C | CA16610021 | RYR2 | c.*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 |
1 | g.237809011T>G | CA345424489 | RYR2 | c.*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) | |
1 | g.237809011T= | CA2487493409 | RYR2 | c.*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=) | |
1 | g.237809012A>C | CA345424497 | RYR2 | c.*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) | |
1 | g.237809012A>G | CA345424494 | RYR2 | c.*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) | |
1 | g.237809012A>T | CA345424496 | RYR2 | c.*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) | |
1 | g.237809013T>A | CA345424498 | RYR2 | c.*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) | |
1 | g.237809013T>C | CA345424499 | RYR2 | c.*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 |
1 | g.237809013T>G | CA345424500 | RYR2 | c.*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 |
1 | g.237809013T= | CA2487493410 | RYR2 | c.*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=) | |
1 | g.237809014G>A | CA345424502 | RYR2 | c.*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) | |
1 | g.237809014G>C | CA345424503 | RYR2 | c.*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) | |
1 | g.237809014G>T | CA345424505 | RYR2 | c.*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) | |
1 | g.237809015A>C | CA345424507 | RYR2 | c.*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) | |
1 | g.237809015A>G | CA068327 | RYR2 | c.*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) | |
1 | g.237809015A>T | CA345424509 | RYR2 | c.*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) | |
1 | g.237809016A= | CA2487493411 | RYR2 | c.*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=) | |
1 | g.237809016A>C | CA345424511 | RYR2 | c.*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) | |
1 | g.237809016A>G | CA345424512 | RYR2 | c.*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 |
1 | g.237809016A>T | CA345424513 | RYR2 | c.*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) | |
1 | g.237809017A= | CA1144229294 | RYR2 | c.*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=) | |
1 | g.237809017A>C | CA345424514 | RYR2 | c.*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) | |
1 | g.237809017A>G | CA008235 | RYR2 | c.*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 |
1 | g.237809017A>T | CA345424516 | RYR2 | c.*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) | |
1 | g.237809018T>A | CA345424523 | RYR2 | c.*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) | |
1 | g.237809018T>C | CA345424527 | RYR2 | c.*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) | |
1 | g.237809018T>G | CA345424525 | RYR2 | c.*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) | |
1 | g.237809019G>A | CA345424529 | RYR2 | c.*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 |
1 | g.237809019G>C | CA345424535 | RYR2 | c.*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) | |
1 | g.237809019G= | CA2487493412 | RYR2 | c.*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=) | |
1 | g.237809019G>T | CA345424537 | RYR2 | c.*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) | |
1 | g.237809020del | CA2651216738 | RYR2 | c.*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 |
1 | g.237809020T>A | CA345424539 | RYR2 | c.*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) | |
1 | g.237809020T>C | CA424051751 | RYR2 | c.*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=) | |
1 | g.237809020T>G | CA345424541 | RYR2 | c.*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) | |
1 | g.237809021G>A | CA345424544 | RYR2 | c.*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) | |
1 | g.237809021G>C | CA345424545 | RYR2 | c.*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) | |
1 | g.237809021G>T | CA345424548 | RYR2 | c.*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) | |
1 | g.237809022A>C | CA345424550 | RYR2 | c.*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) | |
1 | g.237809022A>G | CA345424551 | RYR2 | c.*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) | |
1 | g.237809022A>T | CA345424554 | RYR2 | c.*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) | |
1 | g.237809023C>A | CA345424558 | RYR2 | c.*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) | |
1 | g.237809023C= | CA1140931691 | RYR2 | c.*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=) | |
1 | g.237809023C>G | CA345424557 | RYR2 | c.*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) | |
1 | g.237809023C>T | CA008243 | RYR2 | c.*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 |
1 | g.237809024G>A | CA085654 | RYR2 | c.*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 |
1 | g.237809024G>C | CA345424561 | RYR2 | c.*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) | |
1 | g.237809024G= | CA2487493413 | RYR2 | c.*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=) | |
1 | g.237809024G>T | CA345424562 | RYR2 | c.*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 |
1 | g.237809025A>C | CA345424564 | RYR2 | c.*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) | |
1 | g.237809025A>G | CA345424566 | RYR2 | c.*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 |
1 | g.237809025A>T | CA345424568 | RYR2 | c.*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) | |
1 | g.237809026T>A | CA345424569 | RYR2 | c.*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) | |
1 | g.237809026T>C | CA424051752 | RYR2 | c.*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 |
1 | g.237809026T>G | CA345424576 | RYR2 | c.*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) | |
1 | g.237809027A>C | CA345424579 | RYR2 | c.*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) | |
1 | g.237809027A>G | CA345424580 | RYR2 | c.*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) | |
1 | g.237809027A>T | CA345424583 | RYR2 | c.*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) | |
1 | g.237809028T>A | CA345424588 | RYR2 | c.*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) | |
1 | g.237809028T>C | CA345424586 | RYR2 | c.*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) | |
1 | g.237809028T>G | CA345424585 | RYR2 | c.*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) | |
1 | g.237809029G>A | CA345424589 | RYR2 | c.*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) | |
1 | g.237809029G>C | CA345424591 | RYR2 | c.*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) | |
1 | g.237809029G>T | CA345424593 | RYR2 | c.*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) | |
1 | g.237809030C>A | CA345424594 | RYR2 | c.*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 |
1 | g.237809030C>G | CA345424596 | RYR2 | c.*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) | |
1 | g.237809030C>T | CA424051753 | RYR2 | c.*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=) | |
1 | g.237809031T>A | CA345424603 | RYR2 | c.*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) | |
1 | g.237809031T>C | CA345424601 | RYR2 | c.*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 |
1 | g.237809031T>G | CA345424599 | RYR2 | c.*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) |