Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.237627778T>ACA2651204059RYR2c.6167-29T>A (n.6167-29T>A)
c.6119-29T>A (n.6119-29T>A)
c.6197-29T>A (n.6197-29T>A)
c.6194-29T>A (n.6194-29T>A)
c.6164-29T>A (n.6164-29T>A)
n.6478-29T>A
c.6176-29T>A (n.6176-29T>A)
n.6511-29T>A
 gnomAD v4
1g.237627779T=CA2487417936RYR2c.6167-28T= (n.6167-28T=)
c.6119-28T= (n.6119-28T=)
c.6197-28T= (n.6197-28T=)
c.6194-28T= (n.6194-28T=)
c.6164-28T= (n.6164-28T=)
n.6478-28T=
c.6176-28T= (n.6176-28T=)
n.6511-28T=
1g.237627779_237627780insACA087065RYR2c.6167-28_6167-27insA (n.6167-28_6167-27insA)
c.6119-28_6119-27insA (n.6119-28_6119-27insA)
c.6197-28_6197-27insA (n.6197-28_6197-27insA)
c.6194-28_6194-27insA (n.6194-28_6194-27insA)
c.6164-28_6164-27insA (n.6164-28_6164-27insA)
n.6478-28_6478-27insA
c.6176-28_6176-27insA (n.6176-28_6176-27insA)
n.6511-28_6511-27insA
 dbSNP ExAC gnomAD v2
1g.237627780T>ACA087064RYR2c.6167-27T>A (n.6167-27T>A)
c.6119-27T>A (n.6119-27T>A)
c.6197-27T>A (n.6197-27T>A)
c.6194-27T>A (n.6194-27T>A)
c.6164-27T>A (n.6164-27T>A)
n.6478-27T>A
c.6176-27T>A (n.6176-27T>A)
n.6511-27T>A
 dbSNP ExAC gnomAD v2
1g.237627780T>CCA1013756937RYR2c.6167-27T>C (n.6167-27T>C)
c.6119-27T>C (n.6119-27T>C)
c.6197-27T>C (n.6197-27T>C)
c.6194-27T>C (n.6194-27T>C)
c.6164-27T>C (n.6164-27T>C)
n.6478-27T>C
c.6176-27T>C (n.6176-27T>C)
n.6511-27T>C
 dbSNP gnomAD v3 gnomAD v4
1g.237627780T=CA2487417938RYR2c.6167-27T= (n.6167-27T=)
c.6119-27T= (n.6119-27T=)
c.6197-27T= (n.6197-27T=)
c.6194-27T= (n.6194-27T=)
c.6164-27T= (n.6164-27T=)
n.6478-27T=
c.6176-27T= (n.6176-27T=)
n.6511-27T=
1g.237627780_237627781delinsTACA2487417937RYR2c.6167-27_6167-26delinsTA (n.6167-27_6167-26delinsTA)
c.6119-27_6119-26delinsTA (n.6119-27_6119-26delinsTA)
c.6197-27_6197-26delinsTA (n.6197-27_6197-26delinsTA)
c.6194-27_6194-26delinsTA (n.6194-27_6194-26delinsTA)
c.6164-27_6164-26delinsTA (n.6164-27_6164-26delinsTA)
n.6478-27_6478-26delinsTA
c.6176-27_6176-26delinsTA (n.6176-27_6176-26delinsTA)
n.6511-27_6511-26delinsTA
1g.237627781A=CA2487417940RYR2c.6167-26A= (n.6167-26A=)
c.6119-26A= (n.6119-26A=)
c.6197-26A= (n.6197-26A=)
c.6194-26A= (n.6194-26A=)
c.6164-26A= (n.6164-26A=)
n.6478-26A=
c.6176-26A= (n.6176-26A=)
n.6511-26A=
1g.237627781A>TCA087063RYR2c.6167-26A>T (n.6167-26A>T)
c.6119-26A>T (n.6119-26A>T)
c.6197-26A>T (n.6197-26A>T)
c.6194-26A>T (n.6194-26A>T)
c.6164-26A>T (n.6164-26A>T)
n.6478-26A>T
c.6176-26A>T (n.6176-26A>T)
n.6511-26A>T
 dbSNP ExAC
1g.237627781_237627786delCA2651204061RYR2c.6167-26_6167-21del (n.6167-26_6167-21del)
c.6119-26_6119-21del (n.6119-26_6119-21del)
c.6197-26_6197-21del (n.6197-26_6197-21del)
c.6194-26_6194-21del (n.6194-26_6194-21del)
c.6164-26_6164-21del (n.6164-26_6164-21del)
n.6478-26_6478-21del
c.6176-26_6176-21del (n.6176-26_6176-21del)
n.6511-26_6511-21del
 gnomAD v4
1g.237627786dupCA2651204060RYR2c.6167-21dup (n.6167-21dup)
c.6119-21dup (n.6119-21dup)
c.6197-21dup (n.6197-21dup)
c.6194-21dup (n.6194-21dup)
c.6164-21dup (n.6164-21dup)
n.6478-21dup
c.6176-21dup (n.6176-21dup)
n.6511-21dup
 gnomAD v4
1g.237627786delCA2487417939RYR2c.6167-21del (n.6167-21del)
c.6119-21del (n.6119-21del)
c.6197-21del (n.6197-21del)
c.6194-21del (n.6194-21del)
c.6164-21del (n.6164-21del)
n.6478-21del
c.6176-21del (n.6176-21del)
n.6511-21del
 dbSNP gnomAD v4
1g.237627782A>CCA2651204062RYR2c.6167-25A>C (n.6167-25A>C)
c.6119-25A>C (n.6119-25A>C)
c.6197-25A>C (n.6197-25A>C)
c.6194-25A>C (n.6194-25A>C)
c.6164-25A>C (n.6164-25A>C)
n.6478-25A>C
c.6176-25A>C (n.6176-25A>C)
n.6511-25A>C
 gnomAD v4
1g.237627782A>TCA2748277172RYR2c.6167-25A>T (n.6167-25A>T)
c.6119-25A>T (n.6119-25A>T)
c.6197-25A>T (n.6197-25A>T)
c.6194-25A>T (n.6194-25A>T)
c.6164-25A>T (n.6164-25A>T)
n.6478-25A>T
c.6176-25A>T (n.6176-25A>T)
n.6511-25A>T
1g.237627783A>TCA2748277173RYR2c.6167-24A>T (n.6167-24A>T)
c.6119-24A>T (n.6119-24A>T)
c.6197-24A>T (n.6197-24A>T)
c.6194-24A>T (n.6194-24A>T)
c.6164-24A>T (n.6164-24A>T)
n.6478-24A>T
c.6176-24A>T (n.6176-24A>T)
n.6511-24A>T
1g.237627786A=CA2487417941RYR2c.6167-21A= (n.6167-21A=)
c.6119-21A= (n.6119-21A=)
c.6197-21A= (n.6197-21A=)
c.6194-21A= (n.6194-21A=)
c.6164-21A= (n.6164-21A=)
n.6478-21A=
c.6176-21A= (n.6176-21A=)
n.6511-21A=
1g.237627786A>TCA529552360RYR2c.6167-21A>T (n.6167-21A>T)
c.6119-21A>T (n.6119-21A>T)
c.6197-21A>T (n.6197-21A>T)
c.6194-21A>T (n.6194-21A>T)
c.6164-21A>T (n.6164-21A>T)
n.6478-21A>T
c.6176-21A>T (n.6176-21A>T)
n.6511-21A>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.237627786_237627787insGCA2651204063RYR2c.6167-21_6167-20insG (n.6167-21_6167-20insG)
c.6119-21_6119-20insG (n.6119-21_6119-20insG)
c.6197-21_6197-20insG (n.6197-21_6197-20insG)
c.6194-21_6194-20insG (n.6194-21_6194-20insG)
c.6164-21_6164-20insG (n.6164-21_6164-20insG)
n.6478-21_6478-20insG
c.6176-21_6176-20insG (n.6176-21_6176-20insG)
n.6511-21_6511-20insG
 gnomAD v4
1g.237627787delCA2651204064RYR2c.6167-20del (n.6167-20del)
c.6119-20del (n.6119-20del)
c.6197-20del (n.6197-20del)
c.6194-20del (n.6194-20del)
c.6164-20del (n.6164-20del)
n.6478-20del
c.6176-20del (n.6176-20del)
n.6511-20del
 gnomAD v4
1g.237627787T>ACA087062RYR2c.6167-20T>A (n.6167-20T>A)
c.6119-20T>A (n.6119-20T>A)
c.6197-20T>A (n.6197-20T>A)
c.6194-20T>A (n.6194-20T>A)
c.6164-20T>A (n.6164-20T>A)
n.6478-20T>A
c.6176-20T>A (n.6176-20T>A)
n.6511-20T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.237627787T=CA2487417942RYR2c.6167-20T= (n.6167-20T=)
c.6119-20T= (n.6119-20T=)
c.6197-20T= (n.6197-20T=)
c.6194-20T= (n.6194-20T=)
c.6164-20T= (n.6164-20T=)
n.6478-20T=
c.6176-20T= (n.6176-20T=)
n.6511-20T=
1g.237627788A=CA2487417943RYR2c.6167-19A= (n.6167-19A=)
c.6119-19A= (n.6119-19A=)
c.6197-19A= (n.6197-19A=)
c.6194-19A= (n.6194-19A=)
c.6164-19A= (n.6164-19A=)
n.6478-19A=
c.6176-19A= (n.6176-19A=)
n.6511-19A=
1g.237627788A>GCA529552362RYR2c.6167-19A>G (n.6167-19A>G)
c.6119-19A>G (n.6119-19A>G)
c.6197-19A>G (n.6197-19A>G)
c.6194-19A>G (n.6194-19A>G)
c.6164-19A>G (n.6164-19A>G)
n.6478-19A>G
c.6176-19A>G (n.6176-19A>G)
n.6511-19A>G
 dbSNP gnomAD v2 gnomAD v4
1g.237627789T>CCA2487417945RYR2c.6167-18T>C (n.6167-18T>C)
c.6119-18T>C (n.6119-18T>C)
c.6197-18T>C (n.6197-18T>C)
c.6194-18T>C (n.6194-18T>C)
c.6164-18T>C (n.6164-18T>C)
n.6478-18T>C
c.6176-18T>C (n.6176-18T>C)
n.6511-18T>C
 dbSNP
1g.237627789T=CA2487417944RYR2c.6167-18T= (n.6167-18T=)
c.6119-18T= (n.6119-18T=)
c.6197-18T= (n.6197-18T=)
c.6194-18T= (n.6194-18T=)
c.6164-18T= (n.6164-18T=)
n.6478-18T=
c.6176-18T= (n.6176-18T=)
n.6511-18T=
1g.237627790C>ACA529552363RYR2c.6167-17C>A (n.6167-17C>A)
c.6119-17C>A (n.6119-17C>A)
c.6197-17C>A (n.6197-17C>A)
c.6194-17C>A (n.6194-17C>A)
c.6164-17C>A (n.6164-17C>A)
n.6478-17C>A
c.6176-17C>A (n.6176-17C>A)
n.6511-17C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.237627790C=CA2487417946RYR2c.6167-17C= (n.6167-17C=)
c.6119-17C= (n.6119-17C=)
c.6197-17C= (n.6197-17C=)
c.6194-17C= (n.6194-17C=)
c.6164-17C= (n.6164-17C=)
n.6478-17C=
c.6176-17C= (n.6176-17C=)
n.6511-17C=
1g.237627790C>TCA529552364RYR2c.6167-17C>T (n.6167-17C>T)
c.6119-17C>T (n.6119-17C>T)
c.6197-17C>T (n.6197-17C>T)
c.6194-17C>T (n.6194-17C>T)
c.6164-17C>T (n.6164-17C>T)
n.6478-17C>T
c.6176-17C>T (n.6176-17C>T)
n.6511-17C>T
 dbSNP gnomAD v2 gnomAD v4
1g.237627791C>ACA2651204065RYR2c.6167-16C>A (n.6167-16C>A)
c.6119-16C>A (n.6119-16C>A)
c.6197-16C>A (n.6197-16C>A)
c.6194-16C>A (n.6194-16C>A)
c.6164-16C>A (n.6164-16C>A)
n.6478-16C>A
c.6176-16C>A (n.6176-16C>A)
n.6511-16C>A
 gnomAD v4
1g.237627791C=CA2487417947RYR2c.6167-16C= (n.6167-16C=)
c.6119-16C= (n.6119-16C=)
c.6197-16C= (n.6197-16C=)
c.6194-16C= (n.6194-16C=)
c.6164-16C= (n.6164-16C=)
n.6478-16C=
c.6176-16C= (n.6176-16C=)
n.6511-16C=
1g.237627791C>TCA529552366RYR2c.6167-16C>T (n.6167-16C>T)
c.6119-16C>T (n.6119-16C>T)
c.6197-16C>T (n.6197-16C>T)
c.6194-16C>T (n.6194-16C>T)
c.6164-16C>T (n.6164-16C>T)
n.6478-16C>T
c.6176-16C>T (n.6176-16C>T)
n.6511-16C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.237627792A=CA2487417948RYR2c.6167-15A= (n.6167-15A=)
c.6119-15A= (n.6119-15A=)
c.6197-15A= (n.6197-15A=)
c.6194-15A= (n.6194-15A=)
c.6164-15A= (n.6164-15A=)
n.6478-15A=
c.6176-15A= (n.6176-15A=)
n.6511-15A=
1g.237627792A>GCA913187718RYR2c.6167-15A>G (n.6167-15A>G)
c.6119-15A>G (n.6119-15A>G)
c.6197-15A>G (n.6197-15A>G)
c.6194-15A>G (n.6194-15A>G)
c.6164-15A>G (n.6164-15A>G)
n.6478-15A>G
c.6176-15A>G (n.6176-15A>G)
n.6511-15A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.237627793T>CCA2698437538RYR2c.6167-14T>C (n.6167-14T>C)
c.6119-14T>C (n.6119-14T>C)
c.6197-14T>C (n.6197-14T>C)
c.6194-14T>C (n.6194-14T>C)
c.6164-14T>C (n.6164-14T>C)
n.6478-14T>C
c.6176-14T>C (n.6176-14T>C)
n.6511-14T>C
 dbSNP
1g.237627794A>GCA2740092655RYR2c.6167-13A>G (n.6167-13A>G)
c.6119-13A>G (n.6119-13A>G)
c.6197-13A>G (n.6197-13A>G)
c.6194-13A>G (n.6194-13A>G)
c.6164-13A>G (n.6164-13A>G)
n.6478-13A>G
c.6176-13A>G (n.6176-13A>G)
n.6511-13A>G
 ClinVar
1g.237627795A>GCA2651204066RYR2c.6167-12A>G (n.6167-12A>G)
c.6119-12A>G (n.6119-12A>G)
c.6197-12A>G (n.6197-12A>G)
c.6194-12A>G (n.6194-12A>G)
c.6164-12A>G (n.6164-12A>G)
n.6478-12A>G
c.6176-12A>G (n.6176-12A>G)
n.6511-12A>G
 gnomAD v4
1g.237627795A>TCA2651204067RYR2c.6167-12A>T (n.6167-12A>T)
c.6119-12A>T (n.6119-12A>T)
c.6197-12A>T (n.6197-12A>T)
c.6194-12A>T (n.6194-12A>T)
c.6164-12A>T (n.6164-12A>T)
n.6478-12A>T
c.6176-12A>T (n.6176-12A>T)
n.6511-12A>T
 gnomAD v4
1g.237627796T>CCA2651204068RYR2c.6167-11T>C (n.6167-11T>C)
c.6119-11T>C (n.6119-11T>C)
c.6197-11T>C (n.6197-11T>C)
c.6194-11T>C (n.6194-11T>C)
c.6164-11T>C (n.6164-11T>C)
n.6478-11T>C
c.6176-11T>C (n.6176-11T>C)
n.6511-11T>C
 gnomAD v4
1g.237627797G>TCA2651204069RYR2c.6167-10G>T (n.6167-10G>T)
c.6119-10G>T (n.6119-10G>T)
c.6197-10G>T (n.6197-10G>T)
c.6194-10G>T (n.6194-10G>T)
c.6164-10G>T (n.6164-10G>T)
n.6478-10G>T
c.6176-10G>T (n.6176-10G>T)
n.6511-10G>T
 gnomAD v4
1g.237627798A=CA2487417949RYR2c.6167-9A= (n.6167-9A=)
c.6119-9A= (n.6119-9A=)
c.6197-9A= (n.6197-9A=)
c.6194-9A= (n.6194-9A=)
c.6164-9A= (n.6164-9A=)
n.6478-9A=
c.6176-9A= (n.6176-9A=)
n.6511-9A=
1g.237627798A>GCA529552368RYR2c.6167-9A>G (n.6167-9A>G)
c.6119-9A>G (n.6119-9A>G)
c.6197-9A>G (n.6197-9A>G)
c.6194-9A>G (n.6194-9A>G)
c.6164-9A>G (n.6164-9A>G)
n.6478-9A>G
c.6176-9A>G (n.6176-9A>G)
n.6511-9A>G
 dbSNP gnomAD v2
1g.237627800T>CCA1139656658RYR2c.6167-7T>C (n.6167-7T>C)
c.6119-7T>C (n.6119-7T>C)
c.6197-7T>C (n.6197-7T>C)
c.6194-7T>C (n.6194-7T>C)
c.6164-7T>C (n.6164-7T>C)
n.6478-7T>C
c.6176-7T>C (n.6176-7T>C)
n.6511-7T>C
 ClinVar dbSNP gnomAD v4
1g.237627800T=CA2487417950RYR2c.6167-7T= (n.6167-7T=)
c.6119-7T= (n.6119-7T=)
c.6197-7T= (n.6197-7T=)
c.6194-7T= (n.6194-7T=)
c.6164-7T= (n.6164-7T=)
n.6478-7T=
c.6176-7T= (n.6176-7T=)
n.6511-7T=
1g.237627802delCA2651204070RYR2c.6167-5del (n.6167-5del)
c.6119-5del (n.6119-5del)
c.6197-5del (n.6197-5del)
c.6194-5del (n.6194-5del)
c.6164-5del (n.6164-5del)
n.6478-5del
c.6176-5del (n.6176-5del)
n.6511-5del
 gnomAD v4
1g.237627802T>ACA2651204071RYR2c.6167-5T>A (n.6167-5T>A)
c.6119-5T>A (n.6119-5T>A)
c.6197-5T>A (n.6197-5T>A)
c.6194-5T>A (n.6194-5T>A)
c.6164-5T>A (n.6164-5T>A)
n.6478-5T>A
c.6176-5T>A (n.6176-5T>A)
n.6511-5T>A
 gnomAD v4
1g.237627802T>CCA2487417952RYR2c.6167-5T>C (n.6167-5T>C)
c.6119-5T>C (n.6119-5T>C)
c.6197-5T>C (n.6197-5T>C)
c.6194-5T>C (n.6194-5T>C)
c.6164-5T>C (n.6164-5T>C)
n.6478-5T>C
c.6176-5T>C (n.6176-5T>C)
n.6511-5T>C
 dbSNP
1g.237627802T=CA2487417951RYR2c.6167-5T= (n.6167-5T=)
c.6119-5T= (n.6119-5T=)
c.6197-5T= (n.6197-5T=)
c.6194-5T= (n.6194-5T=)
c.6164-5T= (n.6164-5T=)
n.6478-5T=
c.6176-5T= (n.6176-5T=)
n.6511-5T=
1g.237627803G>ACA529552369RYR2c.6167-4G>A (n.6167-4G>A)
c.6119-4G>A (n.6119-4G>A)
c.6197-4G>A (n.6197-4G>A)
c.6194-4G>A (n.6194-4G>A)
c.6164-4G>A (n.6164-4G>A)
n.6478-4G>A
c.6176-4G>A (n.6176-4G>A)
n.6511-4G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.237627803G=CA2487417953RYR2c.6167-4G= (n.6167-4G=)
c.6119-4G= (n.6119-4G=)
c.6197-4G= (n.6197-4G=)
c.6194-4G= (n.6194-4G=)
c.6164-4G= (n.6164-4G=)
n.6478-4G=
c.6176-4G= (n.6176-4G=)
n.6511-4G=
1g.237627803G>TCA2651204072RYR2c.6167-4G>T (n.6167-4G>T)
c.6119-4G>T (n.6119-4G>T)
c.6197-4G>T (n.6197-4G>T)
c.6194-4G>T (n.6194-4G>T)
c.6164-4G>T (n.6164-4G>T)
n.6478-4G>T
c.6176-4G>T (n.6176-4G>T)
n.6511-4G>T
 gnomAD v4
1g.237627804C>ACA2651204073RYR2c.6167-3C>A (n.6167-3C>A)
c.6119-3C>A (n.6119-3C>A)
c.6197-3C>A (n.6197-3C>A)
c.6194-3C>A (n.6194-3C>A)
c.6164-3C>A (n.6164-3C>A)
n.6478-3C>A
c.6176-3C>A (n.6176-3C>A)
n.6511-3C>A
 gnomAD v4
1g.237627804C=CA2487417954RYR2c.6167-3C= (n.6167-3C=)
c.6119-3C= (n.6119-3C=)
c.6197-3C= (n.6197-3C=)
c.6194-3C= (n.6194-3C=)
c.6164-3C= (n.6164-3C=)
n.6478-3C=
c.6176-3C= (n.6176-3C=)
n.6511-3C=
1g.237627804C>TCA074771RYR2c.6167-3C>T (n.6167-3C>T)
c.6119-3C>T (n.6119-3C>T)
c.6197-3C>T (n.6197-3C>T)
c.6194-3C>T (n.6194-3C>T)
c.6164-3C>T (n.6164-3C>T)
n.6478-3C>T
c.6176-3C>T (n.6176-3C>T)
n.6511-3C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.237627805A>CCA345410213RYR2c.6167-2A>C (n.6167-2A>C)
c.6119-2A>C (n.6119-2A>C)
c.6197-2A>C (n.6197-2A>C)
c.6194-2A>C (n.6194-2A>C)
c.6164-2A>C (n.6164-2A>C)
n.6478-2A>C
c.6176-2A>C (n.6176-2A>C)
n.6511-2A>C
1g.237627805A>GCA345410217RYR2c.6167-2A>G (n.6167-2A>G)
c.6119-2A>G (n.6119-2A>G)
c.6197-2A>G (n.6197-2A>G)
c.6194-2A>G (n.6194-2A>G)
c.6164-2A>G (n.6164-2A>G)
n.6478-2A>G
c.6176-2A>G (n.6176-2A>G)
n.6511-2A>G
1g.237627805A>TCA345410220RYR2c.6167-2A>T (n.6167-2A>T)
c.6119-2A>T (n.6119-2A>T)
c.6197-2A>T (n.6197-2A>T)
c.6194-2A>T (n.6194-2A>T)
c.6164-2A>T (n.6164-2A>T)
n.6478-2A>T
c.6176-2A>T (n.6176-2A>T)
n.6511-2A>T
1g.237627806G>ACA345410223RYR2c.6167-1G>A (n.6167-1G>A)
c.6119-1G>A (n.6119-1G>A)
c.6197-1G>A (n.6197-1G>A)
c.6194-1G>A (n.6194-1G>A)
c.6164-1G>A (n.6164-1G>A)
n.6478-1G>A
c.6176-1G>A (n.6176-1G>A)
n.6511-1G>A
 ClinVar COSMIC
1g.237627806G>CCA345410226RYR2c.6167-1G>C (n.6167-1G>C)
c.6119-1G>C (n.6119-1G>C)
c.6197-1G>C (n.6197-1G>C)
c.6194-1G>C (n.6194-1G>C)
c.6164-1G>C (n.6164-1G>C)
n.6478-1G>C
c.6176-1G>C (n.6176-1G>C)
n.6511-1G>C
1g.237627806G>TCA345410230RYR2c.6167-1G>T (n.6167-1G>T)
c.6119-1G>T (n.6119-1G>T)
c.6197-1G>T (n.6197-1G>T)
c.6194-1G>T (n.6194-1G>T)
c.6164-1G>T (n.6164-1G>T)
n.6478-1G>T
c.6176-1G>T (n.6176-1G>T)
n.6511-1G>T
 gnomAD v4
1g.237627807C>ACA345410236RYR2c.6167C>A (p.Ser2056Tyr)
c.6119C>A (p.Ser2040Tyr)
c.6197C>A (p.Ser2066Tyr)
c.6194C>A (p.Ser2065Tyr)
c.6164C>A (p.Ser2055Tyr)
n.6478C>A
c.6176C>A (p.Ser2059Tyr)
n.6511C>A
 gnomAD v4
1g.237627807C>GCA345410240RYR2c.6167C>G (p.Ser2056Cys)
c.6119C>G (p.Ser2040Cys)
c.6197C>G (p.Ser2066Cys)
c.6194C>G (p.Ser2065Cys)
c.6164C>G (p.Ser2055Cys)
n.6478C>G
c.6176C>G (p.Ser2059Cys)
n.6511C>G
 gnomAD v3 gnomAD v4
1g.237627807C>TCA074769RYR2c.6167C>T (p.Ser2056Phe)
c.6119C>T (p.Ser2040Phe)
c.6197C>T (p.Ser2066Phe)
c.6194C>T (p.Ser2065Phe)
c.6164C>T (p.Ser2055Phe)
n.6478C>T
c.6176C>T (p.Ser2059Phe)
n.6511C>T
 gnomAD v4
1g.237627808C>ACA423821657RYR2c.6168C>A (p.Ser2056=)
c.6120C>A (p.Ser2040=)
c.6198C>A (p.Ser2066=)
c.6195C>A (p.Ser2065=)
c.6165C>A (p.Ser2055=)
n.6479C>A
c.6177C>A (p.Ser2059=)
n.6512C>A
 gnomAD v4
1g.237627808C>GCA423821658RYR2c.6168C>G (p.Ser2056=)
c.6120C>G (p.Ser2040=)
c.6198C>G (p.Ser2066=)
c.6195C>G (p.Ser2065=)
c.6165C>G (p.Ser2055=)
n.6479C>G
c.6177C>G (p.Ser2059=)
n.6512C>G
1g.237627808C>TCA423821659RYR2c.6168C>T (p.Ser2056=)
c.6120C>T (p.Ser2040=)
c.6198C>T (p.Ser2066=)
c.6195C>T (p.Ser2065=)
c.6165C>T (p.Ser2055=)
n.6479C>T
c.6177C>T (p.Ser2059=)
n.6512C>T
1g.237627809A>CCA345410249RYR2c.6169A>C (p.Thr2057Pro)
c.6121A>C (p.Thr2041Pro)
c.6199A>C (p.Thr2067Pro)
c.6196A>C (p.Thr2066Pro)
c.6166A>C (p.Thr2056Pro)
n.6480A>C
c.6178A>C (p.Thr2060Pro)
n.6513A>C
1g.237627809A>GCA345410251RYR2c.6169A>G (p.Thr2057Ala)
c.6121A>G (p.Thr2041Ala)
c.6199A>G (p.Thr2067Ala)
c.6196A>G (p.Thr2066Ala)
c.6166A>G (p.Thr2056Ala)
n.6480A>G
c.6178A>G (p.Thr2060Ala)
n.6513A>G
1g.237627809A>TCA345410247RYR2c.6169A>T (p.Thr2057Ser)
c.6121A>T (p.Thr2041Ser)
c.6199A>T (p.Thr2067Ser)
c.6196A>T (p.Thr2066Ser)
c.6166A>T (p.Thr2056Ser)
n.6480A>T
c.6178A>T (p.Thr2060Ser)
n.6513A>T
1g.237627810C>ACA345410255RYR2c.6170C>A (p.Thr2057Asn)
c.6122C>A (p.Thr2041Asn)
c.6200C>A (p.Thr2067Asn)
c.6197C>A (p.Thr2066Asn)
c.6167C>A (p.Thr2056Asn)
n.6481C>A
c.6179C>A (p.Thr2060Asn)
n.6514C>A
1g.237627810C=CA2487417955RYR2c.6170C= (p.Thr2057=)
c.6122C= (p.Thr2041=)
c.6200C= (p.Thr2067=)
c.6197C= (p.Thr2066=)
c.6167C= (p.Thr2056=)
n.6481C=
c.6179C= (p.Thr2060=)
n.6514C=
1g.237627810C>GCA345410258RYR2c.6170C>G (p.Thr2057Ser)
c.6122C>G (p.Thr2041Ser)
c.6200C>G (p.Thr2067Ser)
c.6197C>G (p.Thr2066Ser)
c.6167C>G (p.Thr2056Ser)
n.6481C>G
c.6179C>G (p.Thr2060Ser)
n.6514C>G
1g.237627810C>TCA345410261RYR2c.6170C>T (p.Thr2057Ile)
c.6122C>T (p.Thr2041Ile)
c.6200C>T (p.Thr2067Ile)
c.6197C>T (p.Thr2066Ile)
c.6167C>T (p.Thr2056Ile)
n.6481C>T
c.6179C>T (p.Thr2060Ile)
n.6514C>T
 ClinVar dbSNP gnomAD v4
1g.237627811T>ACA423821660RYR2c.6171T>A (p.Thr2057=)
c.6123T>A (p.Thr2041=)
c.6201T>A (p.Thr2067=)
c.6198T>A (p.Thr2066=)
c.6168T>A (p.Thr2056=)
n.6482T>A
c.6180T>A (p.Thr2060=)
n.6515T>A
1g.237627811T>CCA423821661RYR2c.6171T>C (p.Thr2057=)
c.6123T>C (p.Thr2041=)
c.6201T>C (p.Thr2067=)
c.6198T>C (p.Thr2066=)
c.6168T>C (p.Thr2056=)
n.6482T>C
c.6180T>C (p.Thr2060=)
n.6515T>C
1g.237627811T>GCA423821662RYR2c.6171T>G (p.Thr2057=)
c.6123T>G (p.Thr2041=)
c.6201T>G (p.Thr2067=)
c.6198T>G (p.Thr2066=)
c.6168T>G (p.Thr2056=)
n.6482T>G
c.6180T>G (p.Thr2060=)
n.6515T>G
 ClinVar dbSNP gnomAD v4
1g.237627812C>ACA345410265RYR2c.6172C>A (p.Leu2058Met)
c.6124C>A (p.Leu2042Met)
c.6202C>A (p.Leu2068Met)
c.6199C>A (p.Leu2067Met)
c.6169C>A (p.Leu2057Met)
n.6483C>A
c.6181C>A (p.Leu2061Met)
n.6516C>A
1g.237627812C=CA2487417956RYR2c.6172C= (p.Leu2058=)
c.6124C= (p.Leu2042=)
c.6202C= (p.Leu2068=)
c.6199C= (p.Leu2067=)
c.6169C= (p.Leu2057=)
n.6483C=
c.6181C= (p.Leu2061=)
n.6516C=
1g.237627812C>GCA345410270RYR2c.6172C>G (p.Leu2058Val)
c.6124C>G (p.Leu2042Val)
c.6202C>G (p.Leu2068Val)
c.6199C>G (p.Leu2067Val)
c.6169C>G (p.Leu2057Val)
n.6483C>G
c.6181C>G (p.Leu2061Val)
n.6516C>G
1g.237627812C>TCA074765RYR2c.6172C>T (p.Leu2058=)
c.6124C>T (p.Leu2042=)
c.6202C>T (p.Leu2068=)
c.6199C>T (p.Leu2067=)
c.6169C>T (p.Leu2057=)
n.6483C>T
c.6181C>T (p.Leu2061=)
n.6516C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.237627813T>ACA345410275RYR2c.6173T>A (p.Leu2058Gln)
c.6125T>A (p.Leu2042Gln)
c.6203T>A (p.Leu2068Gln)
c.6200T>A (p.Leu2067Gln)
c.6170T>A (p.Leu2057Gln)
n.6484T>A
c.6182T>A (p.Leu2061Gln)
n.6517T>A
1g.237627813T>CCA345410283RYR2c.6173T>C (p.Leu2058Pro)
c.6125T>C (p.Leu2042Pro)
c.6203T>C (p.Leu2068Pro)
c.6200T>C (p.Leu2067Pro)
c.6170T>C (p.Leu2057Pro)
n.6484T>C
c.6182T>C (p.Leu2061Pro)
n.6517T>C
1g.237627813T>GCA345410280RYR2c.6173T>G (p.Leu2058Arg)
c.6125T>G (p.Leu2042Arg)
c.6203T>G (p.Leu2068Arg)
c.6200T>G (p.Leu2067Arg)
c.6170T>G (p.Leu2057Arg)
n.6484T>G
c.6182T>G (p.Leu2061Arg)
n.6517T>G
1g.237627814G>ACA087071RYR2c.6174G>A (p.Leu2058=)
c.6126G>A (p.Leu2042=)
c.6204G>A (p.Leu2068=)
c.6201G>A (p.Leu2067=)
c.6171G>A (p.Leu2057=)
n.6485G>A
c.6183G>A (p.Leu2061=)
n.6518G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.237627814G>CCA423821664RYR2c.6174G>C (p.Leu2058=)
c.6126G>C (p.Leu2042=)
c.6204G>C (p.Leu2068=)
c.6201G>C (p.Leu2067=)
c.6171G>C (p.Leu2057=)
n.6485G>C
c.6183G>C (p.Leu2061=)
n.6518G>C
1g.237627814G=CA1144573516RYR2c.6174G= (p.Leu2058=)
c.6126G= (p.Leu2042=)
c.6204G= (p.Leu2068=)
c.6201G= (p.Leu2067=)
c.6171G= (p.Leu2057=)
n.6485G=
c.6183G= (p.Leu2061=)
n.6518G=
1g.237627814G>TCA423821663RYR2c.6174G>T (p.Leu2058=)
c.6126G>T (p.Leu2042=)
c.6204G>T (p.Leu2068=)
c.6201G>T (p.Leu2067=)
c.6171G>T (p.Leu2057=)
n.6485G>T
c.6183G>T (p.Leu2061=)
n.6518G>T
1g.237627815C>ACA345410288RYR2c.6175C>A (p.Gln2059Lys)
c.6127C>A (p.Gln2043Lys)
c.6205C>A (p.Gln2069Lys)
c.6202C>A (p.Gln2068Lys)
c.6172C>A (p.Gln2058Lys)
n.6486C>A
c.6184C>A (p.Gln2062Lys)
n.6519C>A
1g.237627815C>GCA345410291RYR2c.6175C>G (p.Gln2059Glu)
c.6127C>G (p.Gln2043Glu)
c.6205C>G (p.Gln2069Glu)
c.6202C>G (p.Gln2068Glu)
c.6172C>G (p.Gln2058Glu)
n.6486C>G
c.6184C>G (p.Gln2062Glu)
n.6519C>G
1g.237627815C>TCA345410294RYR2c.6175C>T (p.Gln2059Ter)
c.6127C>T (p.Gln2043Ter)
c.6205C>T (p.Gln2069Ter)
c.6202C>T (p.Gln2068Ter)
c.6172C>T (p.Gln2058Ter)
n.6486C>T
c.6184C>T (p.Gln2062Ter)
n.6519C>T
 gnomAD v4
1g.237627816A>CCA345410304RYR2c.6176A>C (p.Gln2059Pro)
c.6128A>C (p.Gln2043Pro)
c.6206A>C (p.Gln2069Pro)
c.6203A>C (p.Gln2068Pro)
c.6173A>C (p.Gln2058Pro)
n.6487A>C
c.6185A>C (p.Gln2062Pro)
n.6520A>C
1g.237627816A>GCA345410297RYR2c.6176A>G (p.Gln2059Arg)
c.6128A>G (p.Gln2043Arg)
c.6206A>G (p.Gln2069Arg)
c.6203A>G (p.Gln2068Arg)
c.6173A>G (p.Gln2058Arg)
n.6487A>G
c.6185A>G (p.Gln2062Arg)
n.6520A>G
1g.237627816A>TCA345410301RYR2c.6176A>T (p.Gln2059Leu)
c.6128A>T (p.Gln2043Leu)
c.6206A>T (p.Gln2069Leu)
c.6203A>T (p.Gln2068Leu)
c.6173A>T (p.Gln2058Leu)
n.6487A>T
c.6185A>T (p.Gln2062Leu)
n.6520A>T
1g.237627817G>ACA39839599RYR2c.6177G>A (p.Gln2059=)
c.6129G>A (p.Gln2043=)
c.6207G>A (p.Gln2069=)
c.6204G>A (p.Gln2068=)
c.6174G>A (p.Gln2058=)
n.6488G>A
c.6186G>A (p.Gln2062=)
n.6521G>A
 dbSNP gnomAD v4
1g.237627817G>CCA345410309RYR2c.6177G>C (p.Gln2059His)
c.6129G>C (p.Gln2043His)
c.6207G>C (p.Gln2069His)
c.6204G>C (p.Gln2068His)
c.6174G>C (p.Gln2058His)
n.6488G>C
c.6186G>C (p.Gln2062His)
n.6521G>C
1g.237627817G=CA1143537425RYR2c.6177G= (p.Gln2059=)
c.6129G= (p.Gln2043=)
c.6207G= (p.Gln2069=)
c.6204G= (p.Gln2068=)
c.6174G= (p.Gln2058=)
n.6488G=
c.6186G= (p.Gln2062=)
n.6521G=
1g.237627817G>TCA345410310RYR2c.6177G>T (p.Gln2059His)
c.6129G>T (p.Gln2043His)
c.6207G>T (p.Gln2069His)
c.6204G>T (p.Gln2068His)
c.6174G>T (p.Gln2058His)
n.6488G>T
c.6186G>T (p.Gln2062His)
n.6521G>T
1g.237627818C>ACA345410312RYR2c.6178C>A (p.Gln2060Lys)
c.6130C>A (p.Gln2044Lys)
c.6208C>A (p.Gln2070Lys)
c.6205C>A (p.Gln2069Lys)
c.6175C>A (p.Gln2059Lys)
n.6489C>A
c.6187C>A (p.Gln2063Lys)
n.6522C>A
1g.237627818C>GCA345410314RYR2c.6178C>G (p.Gln2060Glu)
c.6130C>G (p.Gln2044Glu)
c.6208C>G (p.Gln2070Glu)
c.6205C>G (p.Gln2069Glu)
c.6175C>G (p.Gln2059Glu)
n.6489C>G
c.6187C>G (p.Gln2063Glu)
n.6522C>G
1g.237627818C>TCA074763RYR2c.6178C>T (p.Gln2060Ter)
c.6130C>T (p.Gln2044Ter)
c.6208C>T (p.Gln2070Ter)
c.6205C>T (p.Gln2069Ter)
c.6175C>T (p.Gln2059Ter)
n.6489C>T
c.6187C>T (p.Gln2063Ter)
n.6522C>T
1g.237627819A>CCA345410318RYR2c.6179A>C (p.Gln2060Pro)
c.6131A>C (p.Gln2044Pro)
c.6209A>C (p.Gln2070Pro)
c.6206A>C (p.Gln2069Pro)
c.6176A>C (p.Gln2059Pro)
n.6490A>C
c.6188A>C (p.Gln2063Pro)
n.6523A>C
1g.237627819A>GCA345410321RYR2c.6179A>G (p.Gln2060Arg)
c.6131A>G (p.Gln2044Arg)
c.6209A>G (p.Gln2070Arg)
c.6206A>G (p.Gln2069Arg)
c.6176A>G (p.Gln2059Arg)
n.6490A>G
c.6188A>G (p.Gln2063Arg)
n.6523A>G
1g.237627819A>TCA345410322RYR2c.6179A>T (p.Gln2060Leu)
c.6131A>T (p.Gln2044Leu)
c.6209A>T (p.Gln2070Leu)
c.6206A>T (p.Gln2069Leu)
c.6176A>T (p.Gln2059Leu)
n.6490A>T
c.6188A>T (p.Gln2063Leu)
n.6523A>T
1g.237627820G>ACA423821665RYR2c.6180G>A (p.Gln2060=)
c.6132G>A (p.Gln2044=)
c.6210G>A (p.Gln2070=)
c.6207G>A (p.Gln2069=)
c.6177G>A (p.Gln2059=)
n.6491G>A
c.6189G>A (p.Gln2063=)
n.6524G>A
 dbSNP
1g.237627820G>CCA345410323RYR2c.6180G>C (p.Gln2060His)
c.6132G>C (p.Gln2044His)
c.6210G>C (p.Gln2070His)
c.6207G>C (p.Gln2069His)
c.6177G>C (p.Gln2059His)
n.6491G>C
c.6189G>C (p.Gln2063His)
n.6524G>C
1g.237627820G>TCA345410325RYR2c.6180G>T (p.Gln2060His)
c.6132G>T (p.Gln2044His)
c.6210G>T (p.Gln2070His)
c.6207G>T (p.Gln2069His)
c.6177G>T (p.Gln2059His)
n.6491G>T
c.6189G>T (p.Gln2063His)
n.6524G>T
1g.237627820_237627821insAATATTTAAAGAATCA074717RYR2c.6180_6181insAATATTTAAAGAAT (p.Leu2061AsnfsTer3)
c.6132_6133insAATATTTAAAGAAT (p.Leu2045AsnfsTer3)
c.6210_6211insAATATTTAAAGAAT (p.Leu2071AsnfsTer3)
c.6207_6208insAATATTTAAAGAAT (p.Leu2070AsnfsTer3)
c.6177_6178insAATATTTAAAGAAT (p.Leu2060AsnfsTer3)
n.6491_6492insAATATTTAAAGAAT
c.6189_6190insAATATTTAAAGAAT (p.Leu2064AsnfsTer3)
n.6524_6525insAATATTTAAAGAAT
1g.237627821C>ACA074720RYR2c.6181C>A (p.Leu2061Met)
c.6133C>A (p.Leu2045Met)
c.6211C>A (p.Leu2071Met)
c.6208C>A (p.Leu2070Met)
c.6178C>A (p.Leu2060Met)
n.6492C>A
c.6190C>A (p.Leu2064Met)
n.6525C>A
1g.237627821C>GCA345410328RYR2c.6181C>G (p.Leu2061Val)
c.6133C>G (p.Leu2045Val)
c.6211C>G (p.Leu2071Val)
c.6208C>G (p.Leu2070Val)
c.6178C>G (p.Leu2060Val)
n.6492C>G
c.6190C>G (p.Leu2064Val)
n.6525C>G
1g.237627821C>TCA423821666RYR2c.6181C>T (p.Leu2061=)
c.6133C>T (p.Leu2045=)
c.6211C>T (p.Leu2071=)
c.6208C>T (p.Leu2070=)
c.6178C>T (p.Leu2060=)
n.6492C>T
c.6190C>T (p.Leu2064=)
n.6525C>T
1g.237627821_237627822insACA074761RYR2c.6181_6182insA (p.Leu2061HisfsTer4)
c.6133_6134insA (p.Leu2045HisfsTer4)
c.6211_6212insA (p.Leu2071HisfsTer4)
c.6208_6209insA (p.Leu2070HisfsTer4)
c.6178_6179insA (p.Leu2060HisfsTer4)
n.6492_6493insA
c.6190_6191insA (p.Leu2064HisfsTer4)
n.6525_6526insA
1g.237627822T>ACA074758RYR2c.6182T>A (p.Leu2061Gln)
c.6134T>A (p.Leu2045Gln)
c.6212T>A (p.Leu2071Gln)
c.6209T>A (p.Leu2070Gln)
c.6179T>A (p.Leu2060Gln)
n.6493T>A
c.6191T>A (p.Leu2064Gln)
n.6526T>A
 gnomAD v4
1g.237627822T>CCA345410337RYR2c.6182T>C (p.Leu2061Pro)
c.6134T>C (p.Leu2045Pro)
c.6212T>C (p.Leu2071Pro)
c.6209T>C (p.Leu2070Pro)
c.6179T>C (p.Leu2060Pro)
n.6493T>C
c.6191T>C (p.Leu2064Pro)
n.6526T>C
 gnomAD v4
1g.237627822T>GCA345410334RYR2c.6182T>G (p.Leu2061Arg)
c.6134T>G (p.Leu2045Arg)
c.6212T>G (p.Leu2071Arg)
c.6209T>G (p.Leu2070Arg)
c.6179T>G (p.Leu2060Arg)
n.6493T>G
c.6191T>G (p.Leu2064Arg)
n.6526T>G
1g.237627823G>ACA423821667RYR2c.6183G>A (p.Leu2061=)
c.6135G>A (p.Leu2045=)
c.6213G>A (p.Leu2071=)
c.6210G>A (p.Leu2070=)
c.6180G>A (p.Leu2060=)
n.6494G>A
c.6192G>A (p.Leu2064=)
n.6527G>A
1g.237627823G>CCA423821668RYR2c.6183G>C (p.Leu2061=)
c.6135G>C (p.Leu2045=)
c.6213G>C (p.Leu2071=)
c.6210G>C (p.Leu2070=)
c.6180G>C (p.Leu2060=)
n.6494G>C
c.6192G>C (p.Leu2064=)
n.6527G>C
1g.237627823G>TCA423821669RYR2c.6183G>T (p.Leu2061=)
c.6135G>T (p.Leu2045=)
c.6213G>T (p.Leu2071=)
c.6210G>T (p.Leu2070=)
c.6180G>T (p.Leu2060=)
n.6494G>T
c.6192G>T (p.Leu2064=)
n.6527G>T
1g.237627824A>CCA345410344RYR2c.6184A>C (p.Ile2062Leu)
c.6136A>C (p.Ile2046Leu)
c.6214A>C (p.Ile2072Leu)
c.6211A>C (p.Ile2071Leu)
c.6181A>C (p.Ile2061Leu)
n.6495A>C
c.6193A>C (p.Ile2065Leu)
n.6528A>C
1g.237627824A>GCA345410345RYR2c.6184A>G (p.Ile2062Val)
c.6136A>G (p.Ile2046Val)
c.6214A>G (p.Ile2072Val)
c.6211A>G (p.Ile2071Val)
c.6181A>G (p.Ile2061Val)
n.6495A>G
c.6193A>G (p.Ile2065Val)
n.6528A>G
1g.237627824A>TCA345410347RYR2c.6184A>T (p.Ile2062Phe)
c.6136A>T (p.Ile2046Phe)
c.6214A>T (p.Ile2072Phe)
c.6211A>T (p.Ile2071Phe)
c.6181A>T (p.Ile2061Phe)
n.6495A>T
c.6193A>T (p.Ile2065Phe)
n.6528A>T
1g.237627825T>ACA345410350RYR2c.6185T>A (p.Ile2062Asn)
c.6137T>A (p.Ile2046Asn)
c.6215T>A (p.Ile2072Asn)
c.6212T>A (p.Ile2071Asn)
c.6182T>A (p.Ile2061Asn)
n.6496T>A
c.6194T>A (p.Ile2065Asn)
n.6529T>A
1g.237627825T>CCA087072RYR2c.6185T>C (p.Ile2062Thr)
c.6137T>C (p.Ile2046Thr)
c.6215T>C (p.Ile2072Thr)
c.6212T>C (p.Ile2071Thr)
c.6182T>C (p.Ile2061Thr)
n.6496T>C
c.6194T>C (p.Ile2065Thr)
n.6529T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.237627825T>GCA345410353RYR2c.6185T>G (p.Ile2062Ser)
c.6137T>G (p.Ile2046Ser)
c.6215T>G (p.Ile2072Ser)
c.6212T>G (p.Ile2071Ser)
c.6182T>G (p.Ile2061Ser)
n.6496T>G
c.6194T>G (p.Ile2065Ser)
n.6529T>G
1g.237627825T=CA2487417957RYR2c.6185T= (p.Ile2062=)
c.6137T= (p.Ile2046=)
c.6215T= (p.Ile2072=)
c.6212T= (p.Ile2071=)
c.6182T= (p.Ile2061=)
n.6496T=
c.6194T= (p.Ile2065=)
n.6529T=
1g.237627826T>ACA423821670RYR2c.6186T>A (p.Ile2062=)
c.6138T>A (p.Ile2046=)
c.6216T>A (p.Ile2072=)
c.6213T>A (p.Ile2071=)
c.6183T>A (p.Ile2061=)
n.6497T>A
c.6195T>A (p.Ile2065=)
n.6530T>A
1g.237627826T>CCA423821671RYR2c.6186T>C (p.Ile2062=)
c.6138T>C (p.Ile2046=)
c.6216T>C (p.Ile2072=)
c.6213T>C (p.Ile2071=)
c.6183T>C (p.Ile2061=)
n.6497T>C
c.6195T>C (p.Ile2065=)
n.6530T>C
 dbSNP COSMIC
1g.237627826T>GCA345410355RYR2c.6186T>G (p.Ile2062Met)
c.6138T>G (p.Ile2046Met)
c.6216T>G (p.Ile2072Met)
c.6213T>G (p.Ile2071Met)
c.6183T>G (p.Ile2061Met)
n.6497T>G
c.6195T>G (p.Ile2065Met)
n.6530T>G
 COSMIC COSMIC
1g.237627827T>ACA345410358RYR2c.6187T>A (p.Ser2063Thr)
c.6139T>A (p.Ser2047Thr)
c.6217T>A (p.Ser2073Thr)
c.6214T>A (p.Ser2072Thr)
c.6184T>A (p.Ser2062Thr)
n.6498T>A
c.6196T>A (p.Ser2066Thr)
n.6531T>A
1g.237627827T>CCA345410359RYR2c.6187T>C (p.Ser2063Pro)
c.6139T>C (p.Ser2047Pro)
c.6217T>C (p.Ser2073Pro)
c.6214T>C (p.Ser2072Pro)
c.6184T>C (p.Ser2062Pro)
n.6498T>C
c.6196T>C (p.Ser2066Pro)
n.6531T>C
 gnomAD v4
1g.237627827T>GCA345410362RYR2c.6187T>G (p.Ser2063Ala)
c.6139T>G (p.Ser2047Ala)
c.6217T>G (p.Ser2073Ala)
c.6214T>G (p.Ser2072Ala)
c.6184T>G (p.Ser2062Ala)
n.6498T>G
c.6196T>G (p.Ser2066Ala)
n.6531T>G
1g.237627828C>ACA345410364RYR2c.6188C>A (p.Ser2063Tyr)
c.6140C>A (p.Ser2047Tyr)
c.6218C>A (p.Ser2073Tyr)
c.6215C>A (p.Ser2072Tyr)
c.6185C>A (p.Ser2062Tyr)
n.6499C>A
c.6197C>A (p.Ser2066Tyr)
n.6532C>A
 ClinVar
1g.237627828C>GCA345410366RYR2c.6188C>G (p.Ser2063Cys)
c.6140C>G (p.Ser2047Cys)
c.6218C>G (p.Ser2073Cys)
c.6215C>G (p.Ser2072Cys)
c.6185C>G (p.Ser2062Cys)
n.6499C>G
c.6197C>G (p.Ser2066Cys)
n.6532C>G
1g.237627828C>TCA345410367RYR2c.6188C>T (p.Ser2063Phe)
c.6140C>T (p.Ser2047Phe)
c.6218C>T (p.Ser2073Phe)
c.6215C>T (p.Ser2072Phe)
c.6185C>T (p.Ser2062Phe)
n.6499C>T
c.6197C>T (p.Ser2066Phe)
n.6532C>T
1g.237627829T>ACA074754RYR2c.6189T>A (p.Ser2063=)
c.6141T>A (p.Ser2047=)
c.6219T>A (p.Ser2073=)
c.6216T>A (p.Ser2072=)
c.6186T>A (p.Ser2062=)
n.6500T>A
c.6198T>A (p.Ser2066=)
n.6533T>A
1g.237627829T>CCA087073RYR2c.6189T>C (p.Ser2063=)
c.6141T>C (p.Ser2047=)
c.6219T>C (p.Ser2073=)
c.6216T>C (p.Ser2072=)
c.6186T>C (p.Ser2062=)
n.6500T>C
c.6198T>C (p.Ser2066=)
n.6533T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.237627829T>GCA423821672RYR2c.6189T>G (p.Ser2063=)
c.6141T>G (p.Ser2047=)
c.6219T>G (p.Ser2073=)
c.6216T>G (p.Ser2072=)
c.6186T>G (p.Ser2062=)
n.6500T>G
c.6198T>G (p.Ser2066=)
n.6533T>G
1g.237627829T=CA2487417958RYR2c.6189T= (p.Ser2063=)
c.6141T= (p.Ser2047=)
c.6219T= (p.Ser2073=)
c.6216T= (p.Ser2072=)
c.6186T= (p.Ser2062=)
n.6500T=
c.6198T= (p.Ser2066=)
n.6533T=
1g.237627830G>ACA345410374RYR2c.6190G>A (p.Glu2064Lys)
c.6142G>A (p.Glu2048Lys)
c.6220G>A (p.Glu2074Lys)
c.6217G>A (p.Glu2073Lys)
c.6187G>A (p.Glu2063Lys)
n.6501G>A
c.6199G>A (p.Glu2067Lys)
n.6534G>A
1g.237627830G>CCA345410372RYR2c.6190G>C (p.Glu2064Gln)
c.6142G>C (p.Glu2048Gln)
c.6220G>C (p.Glu2074Gln)
c.6217G>C (p.Glu2073Gln)
c.6187G>C (p.Glu2063Gln)
n.6501G>C
c.6199G>C (p.Glu2067Gln)
n.6534G>C
1g.237627830G>TCA345410370RYR2c.6190G>T (p.Glu2064Ter)
c.6142G>T (p.Glu2048Ter)
c.6220G>T (p.Glu2074Ter)
c.6217G>T (p.Glu2073Ter)
c.6187G>T (p.Glu2063Ter)
n.6501G>T
c.6199G>T (p.Glu2067Ter)
n.6534G>T
 gnomAD v4
1g.237627831A>CCA345410378RYR2c.6191A>C (p.Glu2064Ala)
c.6143A>C (p.Glu2048Ala)
c.6221A>C (p.Glu2074Ala)
c.6218A>C (p.Glu2073Ala)
c.6188A>C (p.Glu2063Ala)
n.6502A>C
c.6200A>C (p.Glu2067Ala)
n.6535A>C
1g.237627831A>GCA345410379RYR2c.6191A>G (p.Glu2064Gly)
c.6143A>G (p.Glu2048Gly)
c.6221A>G (p.Glu2074Gly)
c.6218A>G (p.Glu2073Gly)
c.6188A>G (p.Glu2063Gly)
n.6502A>G
c.6200A>G (p.Glu2067Gly)
n.6535A>G
 ClinVar gnomAD v4
1g.237627831A>TCA345410382RYR2c.6191A>T (p.Glu2064Val)
c.6143A>T (p.Glu2048Val)
c.6221A>T (p.Glu2074Val)
c.6218A>T (p.Glu2073Val)
c.6188A>T (p.Glu2063Val)
n.6502A>T
c.6200A>T (p.Glu2067Val)
n.6535A>T
1g.237627832G>ACA423821673RYR2c.6192G>A (p.Glu2064=)
c.6144G>A (p.Glu2048=)
c.6222G>A (p.Glu2074=)
c.6219G>A (p.Glu2073=)
c.6189G>A (p.Glu2063=)
n.6503G>A
c.6201G>A (p.Glu2067=)
n.6536G>A
1g.237627832G>CCA345410384RYR2c.6192G>C (p.Glu2064Asp)
c.6144G>C (p.Glu2048Asp)
c.6222G>C (p.Glu2074Asp)
c.6219G>C (p.Glu2073Asp)
c.6189G>C (p.Glu2063Asp)
n.6503G>C
c.6201G>C (p.Glu2067Asp)
n.6536G>C
1g.237627832G=CA2487417959RYR2c.6192G= (p.Glu2064=)
c.6144G= (p.Glu2048=)
c.6222G= (p.Glu2074=)
c.6219G= (p.Glu2073=)
c.6189G= (p.Glu2063=)
n.6503G=
c.6201G= (p.Glu2067=)
n.6536G=
1g.237627832G>TCA345410386RYR2c.6192G>T (p.Glu2064Asp)
c.6144G>T (p.Glu2048Asp)
c.6222G>T (p.Glu2074Asp)
c.6219G>T (p.Glu2073Asp)
c.6189G>T (p.Glu2063Asp)
n.6503G>T
c.6201G>T (p.Glu2067Asp)
n.6536G>T
 ClinVar dbSNP gnomAD v4
1g.237627833A>CCA345410393RYR2c.6193A>C (p.Thr2065Pro)
c.6145A>C (p.Thr2049Pro)
c.6223A>C (p.Thr2075Pro)
c.6220A>C (p.Thr2074Pro)
c.6190A>C (p.Thr2064Pro)
n.6504A>C
c.6202A>C (p.Thr2068Pro)
n.6537A>C
1g.237627833A>GCA345410391RYR2c.6193A>G (p.Thr2065Ala)
c.6145A>G (p.Thr2049Ala)
c.6223A>G (p.Thr2075Ala)
c.6220A>G (p.Thr2074Ala)
c.6190A>G (p.Thr2064Ala)
n.6504A>G
c.6202A>G (p.Thr2068Ala)
n.6537A>G
1g.237627833A>TCA345410389RYR2c.6193A>T (p.Thr2065Ser)
c.6145A>T (p.Thr2049Ser)
c.6223A>T (p.Thr2075Ser)
c.6220A>T (p.Thr2074Ser)
c.6190A>T (p.Thr2064Ser)
n.6504A>T
c.6202A>T (p.Thr2068Ser)
n.6537A>T
1g.237627834C>ACA345410396RYR2c.6194C>A (p.Thr2065Asn)
c.6146C>A (p.Thr2049Asn)
c.6224C>A (p.Thr2075Asn)
c.6221C>A (p.Thr2074Asn)
c.6191C>A (p.Thr2064Asn)
n.6505C>A
c.6203C>A (p.Thr2068Asn)
n.6538C>A
1g.237627834C>GCA345410402RYR2c.6194C>G (p.Thr2065Ser)
c.6146C>G (p.Thr2049Ser)
c.6224C>G (p.Thr2075Ser)
c.6221C>G (p.Thr2074Ser)
c.6191C>G (p.Thr2064Ser)
n.6505C>G
c.6203C>G (p.Thr2068Ser)
n.6538C>G
1g.237627834C>TCA345410404RYR2c.6194C>T (p.Thr2065Ile)
c.6146C>T (p.Thr2049Ile)
c.6224C>T (p.Thr2075Ile)
c.6221C>T (p.Thr2074Ile)
c.6191C>T (p.Thr2064Ile)
n.6505C>T
c.6203C>T (p.Thr2068Ile)
n.6538C>T
1g.237627835C>ACA423821674RYR2c.6195C>A (p.Thr2065=)
c.6147C>A (p.Thr2049=)
c.6225C>A (p.Thr2075=)
c.6222C>A (p.Thr2074=)
c.6192C>A (p.Thr2064=)
n.6506C>A
c.6204C>A (p.Thr2068=)
n.6539C>A
1g.237627835C=CA2487417960RYR2c.6195C= (p.Thr2065=)
c.6147C= (p.Thr2049=)
c.6225C= (p.Thr2075=)
c.6222C= (p.Thr2074=)
c.6192C= (p.Thr2064=)
n.6506C=
c.6204C= (p.Thr2068=)
n.6539C=
1g.237627835C>GCA074731RYR2c.6195C>G (p.Thr2065=)
c.6147C>G (p.Thr2049=)
c.6225C>G (p.Thr2075=)
c.6222C>G (p.Thr2074=)
c.6192C>G (p.Thr2064=)
n.6506C>G
c.6204C>G (p.Thr2068=)
n.6539C>G
1g.237627835C>TCA423821675RYR2c.6195C>T (p.Thr2065=)
c.6147C>T (p.Thr2049=)
c.6225C>T (p.Thr2075=)
c.6222C>T (p.Thr2074=)
c.6192C>T (p.Thr2064=)
n.6506C>T
c.6204C>T (p.Thr2068=)
n.6539C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.237627836A=CA2487417961RYR2c.6196A= (p.Met2066=)
c.6148A= (p.Met2050=)
c.6226A= (p.Met2076=)
c.6223A= (p.Met2075=)
c.6193A= (p.Met2065=)
n.6507A=
c.6205A= (p.Met2069=)
n.6540A=
1g.237627836A>CCA345410406RYR2c.6196A>C (p.Met2066Leu)
c.6148A>C (p.Met2050Leu)
c.6226A>C (p.Met2076Leu)
c.6223A>C (p.Met2075Leu)
c.6193A>C (p.Met2065Leu)
n.6507A>C
c.6205A>C (p.Met2069Leu)
n.6540A>C
1g.237627836A>GCA345410408RYR2c.6196A>G (p.Met2066Val)
c.6148A>G (p.Met2050Val)
c.6226A>G (p.Met2076Val)
c.6223A>G (p.Met2075Val)
c.6193A>G (p.Met2065Val)
n.6507A>G
c.6205A>G (p.Met2069Val)
n.6540A>G
 dbSNP gnomAD v4
1g.237627836A>TCA345410410RYR2c.6196A>T (p.Met2066Leu)
c.6148A>T (p.Met2050Leu)
c.6226A>T (p.Met2076Leu)
c.6223A>T (p.Met2075Leu)
c.6193A>T (p.Met2065Leu)
n.6507A>T
c.6205A>T (p.Met2069Leu)
n.6540A>T
1g.237627837T>ACA345410414RYR2c.6197T>A (p.Met2066Lys)
c.6149T>A (p.Met2050Lys)
c.6227T>A (p.Met2076Lys)
c.6224T>A (p.Met2075Lys)
c.6194T>A (p.Met2065Lys)
n.6508T>A
c.6206T>A (p.Met2069Lys)
n.6541T>A
1g.237627837T>CCA345410417RYR2c.6197T>C (p.Met2066Thr)
c.6149T>C (p.Met2050Thr)
c.6227T>C (p.Met2076Thr)
c.6224T>C (p.Met2075Thr)
c.6194T>C (p.Met2065Thr)
n.6508T>C
c.6206T>C (p.Met2069Thr)
n.6541T>C
 dbSNP gnomAD v4
1g.237627837T>GCA345410415RYR2c.6197T>G (p.Met2066Arg)
c.6149T>G (p.Met2050Arg)
c.6227T>G (p.Met2076Arg)
c.6224T>G (p.Met2075Arg)
c.6194T>G (p.Met2065Arg)
n.6508T>G
c.6206T>G (p.Met2069Arg)
n.6541T>G
1g.237627837T=CA2487417962RYR2c.6197T= (p.Met2066=)
c.6149T= (p.Met2050=)
c.6227T= (p.Met2076=)
c.6224T= (p.Met2075=)
c.6194T= (p.Met2065=)
n.6508T=
c.6206T= (p.Met2069=)
n.6541T=
1g.237627838G>ACA345410419RYR2c.6198G>A (p.Met2066Ile)
c.6150G>A (p.Met2050Ile)
c.6228G>A (p.Met2076Ile)
c.6225G>A (p.Met2075Ile)
c.6195G>A (p.Met2065Ile)
n.6509G>A
c.6207G>A (p.Met2069Ile)
n.6542G>A
 COSMIC COSMIC
1g.237627838G>CCA345410421RYR2c.6198G>C (p.Met2066Ile)
c.6150G>C (p.Met2050Ile)
c.6228G>C (p.Met2076Ile)
c.6225G>C (p.Met2075Ile)
c.6195G>C (p.Met2065Ile)
n.6509G>C
c.6207G>C (p.Met2069Ile)
n.6542G>C
1g.237627838G>TCA345410424RYR2c.6198G>T (p.Met2066Ile)
c.6150G>T (p.Met2050Ile)
c.6228G>T (p.Met2076Ile)
c.6225G>T (p.Met2075Ile)
c.6195G>T (p.Met2065Ile)
n.6509G>T
c.6207G>T (p.Met2069Ile)
n.6542G>T
1g.237627839G>ACA087074RYR2c.6199G>A (p.Val2067Ile)
c.6151G>A (p.Val2051Ile)
c.6229G>A (p.Val2077Ile)
c.6226G>A (p.Val2076Ile)
c.6196G>A (p.Val2066Ile)
n.6510G>A
c.6208G>A (p.Val2070Ile)
n.6543G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.237627839G>CCA345410427RYR2c.6199G>C (p.Val2067Leu)
c.6151G>C (p.Val2051Leu)
c.6229G>C (p.Val2077Leu)
c.6226G>C (p.Val2076Leu)
c.6196G>C (p.Val2066Leu)
n.6510G>C
c.6208G>C (p.Val2070Leu)
n.6543G>C
1g.237627839G=CA1146017944RYR2c.6199G= (p.Val2067=)
c.6151G= (p.Val2051=)
c.6229G= (p.Val2077=)
c.6226G= (p.Val2076=)
c.6196G= (p.Val2066=)
n.6510G=
c.6208G= (p.Val2070=)
n.6543G=
1g.237627839G>TCA345410429RYR2c.6199G>T (p.Val2067Phe)
c.6151G>T (p.Val2051Phe)
c.6229G>T (p.Val2077Phe)
c.6226G>T (p.Val2076Phe)
c.6196G>T (p.Val2066Phe)
n.6510G>T
c.6208G>T (p.Val2070Phe)
n.6543G>T
1g.237627840T>ACA345410432RYR2c.6200T>A (p.Val2067Asp)
c.6152T>A (p.Val2051Asp)
c.6230T>A (p.Val2077Asp)
c.6227T>A (p.Val2076Asp)
c.6197T>A (p.Val2066Asp)
n.6511T>A
c.6209T>A (p.Val2070Asp)
n.6544T>A
1g.237627840T>CCA345410434RYR2c.6200T>C (p.Val2067Ala)
c.6152T>C (p.Val2051Ala)
c.6230T>C (p.Val2077Ala)
c.6227T>C (p.Val2076Ala)
c.6197T>C (p.Val2066Ala)
n.6511T>C
c.6209T>C (p.Val2070Ala)
n.6544T>C
 ClinVar
1g.237627840T>GCA345410435RYR2c.6200T>G (p.Val2067Gly)
c.6152T>G (p.Val2051Gly)
c.6230T>G (p.Val2077Gly)
c.6227T>G (p.Val2076Gly)
c.6197T>G (p.Val2066Gly)
n.6511T>G
c.6209T>G (p.Val2070Gly)
n.6544T>G
1g.237627841C>ACA423821676RYR2c.6201C>A (p.Val2067=)
c.6153C>A (p.Val2051=)
c.6231C>A (p.Val2077=)
c.6228C>A (p.Val2076=)
c.6198C>A (p.Val2066=)
n.6512C>A
c.6210C>A (p.Val2070=)
n.6545C>A
1g.237627841C=CA2487417963RYR2c.6201C= (p.Val2067=)
c.6153C= (p.Val2051=)
c.6231C= (p.Val2077=)
c.6228C= (p.Val2076=)
c.6198C= (p.Val2066=)
n.6512C=
c.6210C= (p.Val2070=)
n.6545C=
1g.237627841C>GCA423821677RYR2c.6201C>G (p.Val2067=)
c.6153C>G (p.Val2051=)
c.6231C>G (p.Val2077=)
c.6228C>G (p.Val2076=)
c.6198C>G (p.Val2066=)
n.6512C>G
c.6210C>G (p.Val2070=)
n.6545C>G
1g.237627841C>TCA423821678RYR2c.6201C>T (p.Val2067=)
c.6153C>T (p.Val2051=)
c.6231C>T (p.Val2077=)
c.6228C>T (p.Val2076=)
c.6198C>T (p.Val2066=)
n.6512C>T
c.6210C>T (p.Val2070=)
n.6545C>T
 ClinVar dbSNP
1g.237627842C>ACA423821679RYR2c.6202C>A (p.Arg2068=)
c.6154C>A (p.Arg2052=)
c.6232C>A (p.Arg2078=)
c.6229C>A (p.Arg2077=)
c.6199C>A (p.Arg2067=)
n.6513C>A
c.6211C>A (p.Arg2071=)
n.6546C>A
 gnomAD v4
1g.237627842C=CA2487417964RYR2c.6202C= (p.Arg2068=)
c.6154C= (p.Arg2052=)
c.6232C= (p.Arg2078=)
c.6229C= (p.Arg2077=)
c.6199C= (p.Arg2067=)
n.6513C=
c.6211C= (p.Arg2071=)
n.6546C=
1g.237627842C>GCA345410436RYR2c.6202C>G (p.Arg2068Gly)
c.6154C>G (p.Arg2052Gly)
c.6232C>G (p.Arg2078Gly)
c.6229C>G (p.Arg2077Gly)
c.6199C>G (p.Arg2067Gly)
n.6513C>G
c.6211C>G (p.Arg2071Gly)
n.6546C>G
1g.237627842C>TCA345410438RYR2c.6202C>T (p.Arg2068Ter)
c.6154C>T (p.Arg2052Ter)
c.6232C>T (p.Arg2078Ter)
c.6229C>T (p.Arg2077Ter)
c.6199C>T (p.Arg2067Ter)
n.6513C>T
c.6211C>T (p.Arg2071Ter)
n.6546C>T
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
1g.237627843G>ACA345410442RYR2c.6203G>A (p.Arg2068Gln)
c.6155G>A (p.Arg2052Gln)
c.6233G>A (p.Arg2078Gln)
c.6230G>A (p.Arg2077Gln)
c.6200G>A (p.Arg2067Gln)
n.6514G>A
c.6212G>A (p.Arg2071Gln)
n.6547G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.237627843G>CCA345410446RYR2c.6203G>C (p.Arg2068Pro)
c.6155G>C (p.Arg2052Pro)
c.6233G>C (p.Arg2078Pro)
c.6230G>C (p.Arg2077Pro)
c.6200G>C (p.Arg2067Pro)
n.6514G>C
c.6212G>C (p.Arg2071Pro)
n.6547G>C
1g.237627843G=CA2487417965RYR2c.6203G= (p.Arg2068=)
c.6155G= (p.Arg2052=)
c.6233G= (p.Arg2078=)
c.6230G= (p.Arg2077=)
c.6200G= (p.Arg2067=)
n.6514G=
c.6212G= (p.Arg2071=)
n.6547G=
1g.237627843G>TCA352063RYR2c.6203G>T (p.Arg2068Leu)
c.6155G>T (p.Arg2052Leu)
c.6233G>T (p.Arg2078Leu)
c.6230G>T (p.Arg2077Leu)
c.6200G>T (p.Arg2067Leu)
n.6514G>T
c.6212G>T (p.Arg2071Leu)
n.6547G>T
 ClinVar dbSNP gnomAD v4
1g.237627844A>CCA423821680RYR2c.6204A>C (p.Arg2068=)
c.6156A>C (p.Arg2052=)
c.6234A>C (p.Arg2078=)
c.6231A>C (p.Arg2077=)
c.6201A>C (p.Arg2067=)
n.6515A>C
c.6213A>C (p.Arg2071=)
n.6548A>C
1g.237627844A>GCA423821681RYR2c.6204A>G (p.Arg2068=)
c.6156A>G (p.Arg2052=)
c.6234A>G (p.Arg2078=)
c.6231A>G (p.Arg2077=)
c.6201A>G (p.Arg2067=)
n.6515A>G
c.6213A>G (p.Arg2071=)
n.6548A>G
1g.237627844A>TCA423821682RYR2c.6204A>T (p.Arg2068=)
c.6156A>T (p.Arg2052=)
c.6234A>T (p.Arg2078=)
c.6231A>T (p.Arg2077=)
c.6201A>T (p.Arg2067=)
n.6515A>T
c.6213A>T (p.Arg2071=)
n.6548A>T
 gnomAD v4
1g.237627845T>ACA345410448RYR2c.6205T>A (p.Trp2069Arg)
c.6157T>A (p.Trp2053Arg)
c.6235T>A (p.Trp2079Arg)
c.6232T>A (p.Trp2078Arg)
c.6202T>A (p.Trp2068Arg)
n.6516T>A
c.6214T>A (p.Trp2072Arg)
n.6549T>A
1g.237627845T>CCA074741RYR2c.6205T>C (p.Trp2069Arg)
c.6157T>C (p.Trp2053Arg)
c.6235T>C (p.Trp2079Arg)
c.6232T>C (p.Trp2078Arg)
c.6202T>C (p.Trp2068Arg)
n.6516T>C
c.6214T>C (p.Trp2072Arg)
n.6549T>C
 gnomAD v4
1g.237627845T>GCA345410450RYR2c.6205T>G (p.Trp2069Gly)
c.6157T>G (p.Trp2053Gly)
c.6235T>G (p.Trp2079Gly)
c.6232T>G (p.Trp2078Gly)
c.6202T>G (p.Trp2068Gly)
n.6516T>G
c.6214T>G (p.Trp2072Gly)
n.6549T>G
1g.237627846G>ACA345410454RYR2c.6206G>A (p.Trp2069Ter)
c.6158G>A (p.Trp2053Ter)
c.6236G>A (p.Trp2079Ter)
c.6233G>A (p.Trp2078Ter)
c.6203G>A (p.Trp2068Ter)
n.6517G>A
c.6215G>A (p.Trp2072Ter)
n.6550G>A
1g.237627846G>CCA345410460RYR2c.6206G>C (p.Trp2069Ser)
c.6158G>C (p.Trp2053Ser)
c.6236G>C (p.Trp2079Ser)
c.6233G>C (p.Trp2078Ser)
c.6203G>C (p.Trp2068Ser)
n.6517G>C
c.6215G>C (p.Trp2072Ser)
n.6550G>C
1g.237627846G>TCA345410462RYR2c.6206G>T (p.Trp2069Leu)
c.6158G>T (p.Trp2053Leu)
c.6236G>T (p.Trp2079Leu)
c.6233G>T (p.Trp2078Leu)
c.6203G>T (p.Trp2068Leu)
n.6517G>T
c.6215G>T (p.Trp2072Leu)
n.6550G>T
1g.237627847G>ACA345410466RYR2c.6207G>A (p.Trp2069Ter)
c.6159G>A (p.Trp2053Ter)
c.6237G>A (p.Trp2079Ter)
c.6234G>A (p.Trp2078Ter)
c.6204G>A (p.Trp2068Ter)
n.6518G>A
c.6216G>A (p.Trp2072Ter)
n.6551G>A
1g.237627847G>CCA345410467RYR2c.6207G>C (p.Trp2069Cys)
c.6159G>C (p.Trp2053Cys)
c.6237G>C (p.Trp2079Cys)
c.6234G>C (p.Trp2078Cys)
c.6204G>C (p.Trp2068Cys)
n.6518G>C
c.6216G>C (p.Trp2072Cys)
n.6551G>C
1g.237627847G>TCA345410469RYR2c.6207G>T (p.Trp2069Cys)
c.6159G>T (p.Trp2053Cys)
c.6237G>T (p.Trp2079Cys)
c.6234G>T (p.Trp2078Cys)
c.6204G>T (p.Trp2068Cys)
n.6518G>T
c.6216G>T (p.Trp2072Cys)
n.6551G>T
1g.237627848G>ACA345410471RYR2c.6208G>A (p.Ala2070Thr)
c.6160G>A (p.Ala2054Thr)
c.6238G>A (p.Ala2080Thr)
c.6235G>A (p.Ala2079Thr)
c.6205G>A (p.Ala2069Thr)
n.6519G>A
c.6217G>A (p.Ala2073Thr)
n.6552G>A
1g.237627848G>CCA345410473RYR2c.6208G>C (p.Ala2070Pro)
c.6160G>C (p.Ala2054Pro)
c.6238G>C (p.Ala2080Pro)
c.6235G>C (p.Ala2079Pro)
c.6205G>C (p.Ala2069Pro)
n.6519G>C
c.6217G>C (p.Ala2073Pro)
n.6552G>C
1g.237627848G>TCA345410476RYR2c.6208G>T (p.Ala2070Ser)
c.6160G>T (p.Ala2054Ser)
c.6238G>T (p.Ala2080Ser)
c.6235G>T (p.Ala2079Ser)
c.6205G>T (p.Ala2069Ser)
n.6519G>T
c.6217G>T (p.Ala2073Ser)
n.6552G>T
1g.237627849C>ACA345410479RYR2c.6209C>A (p.Ala2070Asp)
c.6161C>A (p.Ala2054Asp)
c.6239C>A (p.Ala2080Asp)
c.6236C>A (p.Ala2079Asp)
c.6206C>A (p.Ala2069Asp)
n.6520C>A
c.6218C>A (p.Ala2073Asp)
n.6553C>A
 COSMIC COSMIC
1g.237627849C>GCA345410480RYR2c.6209C>G (p.Ala2070Gly)
c.6161C>G (p.Ala2054Gly)
c.6239C>G (p.Ala2080Gly)
c.6236C>G (p.Ala2079Gly)
c.6206C>G (p.Ala2069Gly)
n.6520C>G
c.6218C>G (p.Ala2073Gly)
n.6553C>G
1g.237627849C>TCA345410482RYR2c.6209C>T (p.Ala2070Val)
c.6161C>T (p.Ala2054Val)
c.6239C>T (p.Ala2080Val)
c.6236C>T (p.Ala2079Val)
c.6206C>T (p.Ala2069Val)
n.6520C>T
c.6218C>T (p.Ala2073Val)
n.6553C>T
1g.237627850T>ACA423821683RYR2c.6210T>A (p.Ala2070=)
c.6162T>A (p.Ala2054=)
c.6240T>A (p.Ala2080=)
c.6237T>A (p.Ala2079=)
c.6207T>A (p.Ala2069=)
n.6521T>A
c.6219T>A (p.Ala2073=)
n.6554T>A
1g.237627850T>CCA423821684RYR2c.6210T>C (p.Ala2070=)
c.6162T>C (p.Ala2054=)
c.6240T>C (p.Ala2080=)
c.6237T>C (p.Ala2079=)
c.6207T>C (p.Ala2069=)
n.6521T>C
c.6219T>C (p.Ala2073=)
n.6554T>C
1g.237627850T>GCA423821685RYR2c.6210T>G (p.Ala2070=)
c.6162T>G (p.Ala2054=)
c.6240T>G (p.Ala2080=)
c.6237T>G (p.Ala2079=)
c.6207T>G (p.Ala2069=)
n.6521T>G
c.6219T>G (p.Ala2073=)
n.6554T>G
1g.237627851C>ACA345410489RYR2c.6211C>A (p.Gln2071Lys)
c.6163C>A (p.Gln2055Lys)
c.6241C>A (p.Gln2081Lys)
c.6238C>A (p.Gln2080Lys)
c.6208C>A (p.Gln2070Lys)
n.6522C>A
c.6220C>A (p.Gln2074Lys)
n.6555C>A
1g.237627851C>GCA345410485RYR2c.6211C>G (p.Gln2071Glu)
c.6163C>G (p.Gln2055Glu)
c.6241C>G (p.Gln2081Glu)
c.6238C>G (p.Gln2080Glu)
c.6208C>G (p.Gln2070Glu)
n.6522C>G
c.6220C>G (p.Gln2074Glu)
n.6555C>G
1g.237627851C>TCA345410487RYR2c.6211C>T (p.Gln2071Ter)
c.6163C>T (p.Gln2055Ter)
c.6241C>T (p.Gln2081Ter)
c.6238C>T (p.Gln2080Ter)
c.6208C>T (p.Gln2070Ter)
n.6522C>T
c.6220C>T (p.Gln2074Ter)
n.6555C>T
 ClinVar
1g.237627852A=CA2487417966RYR2c.6212A= (p.Gln2071=)
c.6164A= (p.Gln2055=)
c.6242A= (p.Gln2081=)
c.6239A= (p.Gln2080=)
c.6209A= (p.Gln2070=)
n.6523A=
c.6221A= (p.Gln2074=)
n.6556A=
1g.237627852A>CCA345410491RYR2c.6212A>C (p.Gln2071Pro)
c.6164A>C (p.Gln2055Pro)
c.6242A>C (p.Gln2081Pro)
c.6239A>C (p.Gln2080Pro)
c.6209A>C (p.Gln2070Pro)
n.6523A>C
c.6221A>C (p.Gln2074Pro)
n.6556A>C
 ClinVar dbSNP gnomAD v4
1g.237627852A>GCA345410493RYR2c.6212A>G (p.Gln2071Arg)
c.6164A>G (p.Gln2055Arg)
c.6242A>G (p.Gln2081Arg)
c.6239A>G (p.Gln2080Arg)
c.6209A>G (p.Gln2070Arg)
n.6523A>G
c.6221A>G (p.Gln2074Arg)
n.6556A>G
1g.237627852A>TCA345410495RYR2c.6212A>T (p.Gln2071Leu)
c.6164A>T (p.Gln2055Leu)
c.6242A>T (p.Gln2081Leu)
c.6239A>T (p.Gln2080Leu)
c.6209A>T (p.Gln2070Leu)
n.6523A>T
c.6221A>T (p.Gln2074Leu)
n.6556A>T
1g.237627853G>ACA423821686RYR2c.6213G>A (p.Gln2071=)
c.6165G>A (p.Gln2055=)
c.6243G>A (p.Gln2081=)
c.6240G>A (p.Gln2080=)
c.6210G>A (p.Gln2070=)
n.6524G>A
c.6222G>A (p.Gln2074=)
n.6557G>A
 COSMIC
1g.237627853G>CCA345410498RYR2c.6213G>C (p.Gln2071His)
c.6165G>C (p.Gln2055His)
c.6243G>C (p.Gln2081His)
c.6240G>C (p.Gln2080His)
c.6210G>C (p.Gln2070His)
n.6524G>C
c.6222G>C (p.Gln2074His)
n.6557G>C
1g.237627853G>TCA345410500RYR2c.6213G>T (p.Gln2071His)
c.6165G>T (p.Gln2055His)
c.6243G>T (p.Gln2081His)
c.6240G>T (p.Gln2080His)
c.6210G>T (p.Gln2070His)
n.6524G>T
c.6222G>T (p.Gln2074His)
n.6557G>T
1g.237627853_237627854delinsAACA645514116RYR2c.6213_6214delinsAA (p.Glu2072Lys)
c.6165_6166delinsAA (p.Glu2056Lys)
c.6243_6244delinsAA (p.Glu2082Lys)
c.6240_6241delinsAA (p.Glu2081Lys)
c.6210_6211delinsAA (p.Glu2071Lys)
n.6524_6525delinsAA
c.6222_6223delinsAA (p.Glu2075Lys)
n.6557_6558delinsAA
 COSMIC
1g.237627854G>ACA345410503RYR2c.6214G>A (p.Glu2072Lys)
c.6166G>A (p.Glu2056Lys)
c.6244G>A (p.Glu2082Lys)
c.6241G>A (p.Glu2081Lys)
c.6211G>A (p.Glu2071Lys)
n.6525G>A
c.6223G>A (p.Glu2075Lys)
n.6558G>A
1g.237627854G>CCA345410505RYR2c.6214G>C (p.Glu2072Gln)
c.6166G>C (p.Glu2056Gln)
c.6244G>C (p.Glu2082Gln)
c.6241G>C (p.Glu2081Gln)
c.6211G>C (p.Glu2071Gln)
n.6525G>C
c.6223G>C (p.Glu2075Gln)
n.6558G>C
 COSMIC COSMIC
1g.237627854G>TCA345410507RYR2c.6214G>T (p.Glu2072Ter)
c.6166G>T (p.Glu2056Ter)
c.6244G>T (p.Glu2082Ter)
c.6241G>T (p.Glu2081Ter)
c.6211G>T (p.Glu2071Ter)
n.6525G>T
c.6223G>T (p.Glu2075Ter)
n.6558G>T
1g.237627855A>CCA345410510RYR2c.6215A>C (p.Glu2072Ala)
c.6167A>C (p.Glu2056Ala)
c.6245A>C (p.Glu2082Ala)
c.6242A>C (p.Glu2081Ala)
c.6212A>C (p.Glu2071Ala)
n.6526A>C
c.6224A>C (p.Glu2075Ala)
n.6559A>C
1g.237627855A>GCA345410512RYR2c.6215A>G (p.Glu2072Gly)
c.6167A>G (p.Glu2056Gly)
c.6245A>G (p.Glu2082Gly)
c.6242A>G (p.Glu2081Gly)
c.6212A>G (p.Glu2071Gly)
n.6526A>G
c.6224A>G (p.Glu2075Gly)
n.6559A>G
1g.237627855A>TCA345410514RYR2c.6215A>T (p.Glu2072Val)
c.6167A>T (p.Glu2056Val)
c.6245A>T (p.Glu2082Val)
c.6242A>T (p.Glu2081Val)
c.6212A>T (p.Glu2071Val)
n.6526A>T
c.6224A>T (p.Glu2075Val)
n.6559A>T
1g.237627856G>ACA074751RYR2c.6216G>A (p.Glu2072=)
c.6168G>A (p.Glu2056=)
c.6246G>A (p.Glu2082=)
c.6243G>A (p.Glu2081=)
c.6213G>A (p.Glu2071=)
n.6527G>A
c.6225G>A (p.Glu2075=)
n.6560G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.237627856G>CCA345410519RYR2c.6216G>C (p.Glu2072Asp)
c.6168G>C (p.Glu2056Asp)
c.6246G>C (p.Glu2082Asp)
c.6243G>C (p.Glu2081Asp)
c.6213G>C (p.Glu2071Asp)
n.6527G>C
c.6225G>C (p.Glu2075Asp)
n.6560G>C
1g.237627856G=CA2487417967RYR2c.6216G= (p.Glu2072=)
c.6168G= (p.Glu2056=)
c.6246G= (p.Glu2082=)
c.6243G= (p.Glu2081=)
c.6213G= (p.Glu2071=)
n.6527G=
c.6225G= (p.Glu2075=)
n.6560G=
1g.237627856G>TCA345410517RYR2c.6216G>T (p.Glu2072Asp)
c.6168G>T (p.Glu2056Asp)
c.6246G>T (p.Glu2082Asp)
c.6243G>T (p.Glu2081Asp)
c.6213G>T (p.Glu2071Asp)
n.6527G>T
c.6225G>T (p.Glu2075Asp)
n.6560G>T
1g.237627857T>ACA345410527RYR2c.6217T>A (p.Ser2073Thr)
c.6169T>A (p.Ser2057Thr)
c.6247T>A (p.Ser2083Thr)
c.6244T>A (p.Ser2082Thr)
c.6214T>A (p.Ser2072Thr)
n.6528T>A
c.6226T>A (p.Ser2076Thr)
n.6561T>A
1g.237627857T>CCA345410524RYR2c.6217T>C (p.Ser2073Pro)
c.6169T>C (p.Ser2057Pro)
c.6247T>C (p.Ser2083Pro)
c.6244T>C (p.Ser2082Pro)
c.6214T>C (p.Ser2072Pro)
n.6528T>C
c.6226T>C (p.Ser2076Pro)
n.6561T>C
1g.237627857T>GCA345410525RYR2c.6217T>G (p.Ser2073Ala)
c.6169T>G (p.Ser2057Ala)
c.6247T>G (p.Ser2083Ala)
c.6244T>G (p.Ser2082Ala)
c.6214T>G (p.Ser2072Ala)
n.6528T>G
c.6226T>G (p.Ser2076Ala)
n.6561T>G
1g.237627858C>ACA345410530RYR2c.6218C>A (p.Ser2073Tyr)
c.6170C>A (p.Ser2057Tyr)
c.6248C>A (p.Ser2083Tyr)
c.6245C>A (p.Ser2082Tyr)
c.6215C>A (p.Ser2072Tyr)
n.6529C>A
c.6227C>A (p.Ser2076Tyr)
n.6562C>A
1g.237627858C>GCA345410531RYR2c.6218C>G (p.Ser2073Cys)
c.6170C>G (p.Ser2057Cys)
c.6248C>G (p.Ser2083Cys)
c.6245C>G (p.Ser2082Cys)
c.6215C>G (p.Ser2072Cys)
n.6529C>G
c.6227C>G (p.Ser2076Cys)
n.6562C>G
1g.237627858C>TCA345410534RYR2c.6218C>T (p.Ser2073Phe)
c.6170C>T (p.Ser2057Phe)
c.6248C>T (p.Ser2083Phe)
c.6245C>T (p.Ser2082Phe)
c.6215C>T (p.Ser2072Phe)
n.6529C>T
c.6227C>T (p.Ser2076Phe)
n.6562C>T
 COSMIC COSMIC
1g.237627859T>ACA423821689RYR2c.6219T>A (p.Ser2073=)
c.6171T>A (p.Ser2057=)
c.6249T>A (p.Ser2083=)
c.6246T>A (p.Ser2082=)
c.6216T>A (p.Ser2072=)
n.6530T>A
c.6228T>A (p.Ser2076=)
n.6563T>A
1g.237627859T>CCA423821687RYR2c.6219T>C (p.Ser2073=)
c.6171T>C (p.Ser2057=)
c.6249T>C (p.Ser2083=)
c.6246T>C (p.Ser2082=)
c.6216T>C (p.Ser2072=)
n.6530T>C
c.6228T>C (p.Ser2076=)
n.6563T>C
1g.237627859T>GCA423821688RYR2c.6219T>G (p.Ser2073=)
c.6171T>G (p.Ser2057=)
c.6249T>G (p.Ser2083=)
c.6246T>G (p.Ser2082=)
c.6216T>G (p.Ser2072=)
n.6530T>G
c.6228T>G (p.Ser2076=)
n.6563T>G
1g.237627860G>ACA345410539RYR2c.6220G>A (p.Val2074Ile)
c.6172G>A (p.Val2058Ile)
c.6250G>A (p.Val2084Ile)
c.6247G>A (p.Val2083Ile)
c.6217G>A (p.Val2073Ile)
n.6531G>A
c.6229G>A (p.Val2077Ile)
n.6564G>A
1g.237627860G>CCA345410538RYR2c.6220G>C (p.Val2074Leu)
c.6172G>C (p.Val2058Leu)
c.6250G>C (p.Val2084Leu)
c.6247G>C (p.Val2083Leu)
c.6217G>C (p.Val2073Leu)
n.6531G>C
c.6229G>C (p.Val2077Leu)
n.6564G>C
1g.237627860G=CA1148396716RYR2c.6220G= (p.Val2074=)
c.6172G= (p.Val2058=)
c.6250G= (p.Val2084=)
c.6247G= (p.Val2083=)
c.6217G= (p.Val2073=)
n.6531G=
c.6229G= (p.Val2077=)
n.6564G=
1g.237627860G>TCA087075RYR2c.6220G>T (p.Val2074Phe)
c.6172G>T (p.Val2058Phe)
c.6250G>T (p.Val2084Phe)
c.6247G>T (p.Val2083Phe)
c.6217G>T (p.Val2073Phe)
n.6531G>T
c.6229G>T (p.Val2077Phe)
n.6564G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.237627861T>ACA345410541RYR2c.6221T>A (p.Val2074Asp)
c.6173T>A (p.Val2058Asp)
c.6251T>A (p.Val2084Asp)
c.6248T>A (p.Val2083Asp)
c.6218T>A (p.Val2073Asp)
n.6532T>A
c.6230T>A (p.Val2077Asp)
n.6565T>A
1g.237627861T>CCA345410544RYR2c.6221T>C (p.Val2074Ala)
c.6173T>C (p.Val2058Ala)
c.6251T>C (p.Val2084Ala)
c.6248T>C (p.Val2083Ala)
c.6218T>C (p.Val2073Ala)
n.6532T>C
c.6230T>C (p.Val2077Ala)
n.6565T>C
1g.237627861T>GCA345410547RYR2c.6221T>G (p.Val2074Gly)
c.6173T>G (p.Val2058Gly)
c.6251T>G (p.Val2084Gly)
c.6248T>G (p.Val2083Gly)
c.6218T>G (p.Val2073Gly)
n.6532T>G
c.6230T>G (p.Val2077Gly)
n.6565T>G
1g.237627862C>ACA423821690RYR2c.6222C>A (p.Val2074=)
c.6174C>A (p.Val2058=)
c.6252C>A (p.Val2084=)
c.6249C>A (p.Val2083=)
c.6219C>A (p.Val2073=)
n.6533C>A
c.6231C>A (p.Val2077=)
n.6566C>A
 gnomAD v4
1g.237627862C>GCA423821692RYR2c.6222C>G (p.Val2074=)
c.6174C>G (p.Val2058=)
c.6252C>G (p.Val2084=)
c.6249C>G (p.Val2083=)
c.6219C>G (p.Val2073=)
n.6533C>G
c.6231C>G (p.Val2077=)
n.6566C>G
1g.237627862C>TCA423821691RYR2c.6222C>T (p.Val2074=)
c.6174C>T (p.Val2058=)
c.6252C>T (p.Val2084=)
c.6249C>T (p.Val2083=)
c.6219C>T (p.Val2073=)
n.6533C>T
c.6231C>T (p.Val2077=)
n.6566C>T
1g.237627863A>CCA345410550RYR2c.6223A>C (p.Ile2075Leu)
c.6175A>C (p.Ile2059Leu)
c.6253A>C (p.Ile2085Leu)
c.6250A>C (p.Ile2084Leu)
c.6220A>C (p.Ile2074Leu)
n.6534A>C
c.6232A>C (p.Ile2078Leu)
n.6567A>C
1g.237627863A>GCA345410552RYR2c.6223A>G (p.Ile2075Val)
c.6175A>G (p.Ile2059Val)
c.6253A>G (p.Ile2085Val)
c.6250A>G (p.Ile2084Val)
c.6220A>G (p.Ile2074Val)
n.6534A>G
c.6232A>G (p.Ile2078Val)
n.6567A>G
 ClinVar
1g.237627863A>TCA345410553RYR2c.6223A>T (p.Ile2075Phe)
c.6175A>T (p.Ile2059Phe)
c.6253A>T (p.Ile2085Phe)
c.6250A>T (p.Ile2084Phe)
c.6220A>T (p.Ile2074Phe)
n.6534A>T
c.6232A>T (p.Ile2078Phe)
n.6567A>T
 gnomAD v4
1g.237627864T>ACA345410556RYR2c.6224T>A (p.Ile2075Asn)
c.6176T>A (p.Ile2059Asn)
c.6254T>A (p.Ile2085Asn)
c.6251T>A (p.Ile2084Asn)
c.6221T>A (p.Ile2074Asn)
n.6535T>A
c.6233T>A (p.Ile2078Asn)
n.6568T>A
1g.237627864T>CCA087076RYR2c.6224T>C (p.Ile2075Thr)
c.6176T>C (p.Ile2059Thr)
c.6254T>C (p.Ile2085Thr)
c.6251T>C (p.Ile2084Thr)
c.6221T>C (p.Ile2074Thr)
n.6535T>C
c.6233T>C (p.Ile2078Thr)
n.6568T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.237627864T>GCA345410558RYR2c.6224T>G (p.Ile2075Ser)
c.6176T>G (p.Ile2059Ser)
c.6254T>G (p.Ile2085Ser)
c.6251T>G (p.Ile2084Ser)
c.6221T>G (p.Ile2074Ser)
n.6535T>G
c.6233T>G (p.Ile2078Ser)
n.6568T>G
1g.237627864T=CA2487417968RYR2c.6224T= (p.Ile2075=)
c.6176T= (p.Ile2059=)
c.6254T= (p.Ile2085=)
c.6251T= (p.Ile2084=)
c.6221T= (p.Ile2074=)
n.6535T=
c.6233T= (p.Ile2078=)
n.6568T=
1g.237627865T>ACA423821693RYR2c.6225T>A (p.Ile2075=)
c.6177T>A (p.Ile2059=)
c.6255T>A (p.Ile2085=)
c.6252T>A (p.Ile2084=)
c.6222T>A (p.Ile2074=)
n.6536T>A
c.6234T>A (p.Ile2078=)
n.6569T>A
1g.237627865T>CCA423821694RYR2c.6225T>C (p.Ile2075=)
c.6177T>C (p.Ile2059=)
c.6255T>C (p.Ile2085=)
c.6252T>C (p.Ile2084=)
c.6222T>C (p.Ile2074=)
n.6536T>C
c.6234T>C (p.Ile2078=)
n.6569T>C
 dbSNP
1g.237627865T>GCA345410561RYR2c.6225T>G (p.Ile2075Met)
c.6177T>G (p.Ile2059Met)
c.6255T>G (p.Ile2085Met)
c.6252T>G (p.Ile2084Met)
c.6222T>G (p.Ile2074Met)
n.6536T>G
c.6234T>G (p.Ile2078Met)
n.6569T>G
1g.237627865T=CA2487417969RYR2c.6225T= (p.Ile2075=)
c.6177T= (p.Ile2059=)
c.6255T= (p.Ile2085=)
c.6252T= (p.Ile2084=)
c.6222T= (p.Ile2074=)
n.6536T=
c.6234T= (p.Ile2078=)
n.6569T=
1g.237627866G>ACA345410562RYR2c.6226G>A (p.Glu2076Lys)
c.6178G>A (p.Glu2060Lys)
c.6256G>A (p.Glu2086Lys)
c.6253G>A (p.Glu2085Lys)
c.6223G>A (p.Glu2075Lys)
n.6537G>A
c.6235G>A (p.Glu2079Lys)
n.6570G>A
1g.237627866G>CCA345410564RYR2c.6226G>C (p.Glu2076Gln)
c.6178G>C (p.Glu2060Gln)
c.6256G>C (p.Glu2086Gln)
c.6253G>C (p.Glu2085Gln)
c.6223G>C (p.Glu2075Gln)
n.6537G>C
c.6235G>C (p.Glu2079Gln)
n.6570G>C
1g.237627866G>TCA345410566RYR2c.6226G>T (p.Glu2076Ter)
c.6178G>T (p.Glu2060Ter)
c.6256G>T (p.Glu2086Ter)
c.6253G>T (p.Glu2085Ter)
c.6223G>T (p.Glu2075Ter)
n.6537G>T
c.6235G>T (p.Glu2079Ter)
n.6570G>T
1g.237627867A>CCA345410570RYR2c.6227A>C (p.Glu2076Ala)
c.6179A>C (p.Glu2060Ala)
c.6257A>C (p.Glu2086Ala)
c.6254A>C (p.Glu2085Ala)
c.6224A>C (p.Glu2075Ala)
n.6538A>C
c.6236A>C (p.Glu2079Ala)
n.6571A>C
1g.237627867A>GCA345410572RYR2c.6227A>G (p.Glu2076Gly)
c.6179A>G (p.Glu2060Gly)
c.6257A>G (p.Glu2086Gly)
c.6254A>G (p.Glu2085Gly)
c.6224A>G (p.Glu2075Gly)
n.6538A>G
c.6236A>G (p.Glu2079Gly)
n.6571A>G
1g.237627867A>TCA345410574RYR2c.6227A>T (p.Glu2076Val)
c.6179A>T (p.Glu2060Val)
c.6257A>T (p.Glu2086Val)
c.6254A>T (p.Glu2085Val)
c.6224A>T (p.Glu2075Val)
n.6538A>T
c.6236A>T (p.Glu2079Val)
n.6571A>T
 gnomAD v4
1g.237627868A>CCA345410577RYR2c.6228A>C (p.Glu2076Asp)
c.6180A>C (p.Glu2060Asp)
c.6258A>C (p.Glu2086Asp)
c.6255A>C (p.Glu2085Asp)
c.6225A>C (p.Glu2075Asp)
n.6539A>C
c.6237A>C (p.Glu2079Asp)
n.6572A>C
 gnomAD v4
1g.237627868A>GCA423821695RYR2c.6228A>G (p.Glu2076=)
c.6180A>G (p.Glu2060=)
c.6258A>G (p.Glu2086=)
c.6255A>G (p.Glu2085=)
c.6225A>G (p.Glu2075=)
n.6539A>G
c.6237A>G (p.Glu2079=)
n.6572A>G
 ClinVar
1g.237627868A>TCA345410579RYR2c.6228A>T (p.Glu2076Asp)
c.6180A>T (p.Glu2060Asp)
c.6258A>T (p.Glu2086Asp)
c.6255A>T (p.Glu2085Asp)
c.6225A>T (p.Glu2075Asp)
n.6539A>T
c.6237A>T (p.Glu2079Asp)
n.6572A>T
1g.237627869G>ACA345410582RYR2c.6229G>A (p.Asp2077Asn)
c.6181G>A (p.Asp2061Asn)
c.6259G>A (p.Asp2087Asn)
c.6256G>A (p.Asp2086Asn)
c.6226G>A (p.Asp2076Asn)
n.6540G>A
c.6238G>A (p.Asp2080Asn)
n.6573G>A
 gnomAD v4 COSMIC COSMIC
1g.237627869G>CCA345410585RYR2c.6229G>C (p.Asp2077His)
c.6181G>C (p.Asp2061His)
c.6259G>C (p.Asp2087His)
c.6256G>C (p.Asp2086His)
c.6226G>C (p.Asp2076His)
n.6540G>C
c.6238G>C (p.Asp2080His)
n.6573G>C
 ClinVar
1g.237627869G>TCA345410588RYR2c.6229G>T (p.Asp2077Tyr)
c.6181G>T (p.Asp2061Tyr)
c.6259G>T (p.Asp2087Tyr)
c.6256G>T (p.Asp2086Tyr)
c.6226G>T (p.Asp2076Tyr)
n.6540G>T
c.6238G>T (p.Asp2080Tyr)
n.6573G>T
1g.237627870A=CA2487417970RYR2c.6230A= (p.Asp2077=)
c.6182A= (p.Asp2061=)
c.6260A= (p.Asp2087=)
c.6257A= (p.Asp2086=)
c.6227A= (p.Asp2076=)
n.6541A=
c.6239A= (p.Asp2080=)
n.6574A=
1g.237627870A>CCA345410594RYR2c.6230A>C (p.Asp2077Ala)
c.6182A>C (p.Asp2061Ala)
c.6260A>C (p.Asp2087Ala)
c.6257A>C (p.Asp2086Ala)
c.6227A>C (p.Asp2076Ala)
n.6541A>C
c.6239A>C (p.Asp2080Ala)
n.6574A>C
1g.237627870A>GCA345410597RYR2c.6230A>G (p.Asp2077Gly)
c.6182A>G (p.Asp2061Gly)
c.6260A>G (p.Asp2087Gly)
c.6257A>G (p.Asp2086Gly)
c.6227A>G (p.Asp2076Gly)
n.6541A>G
c.6239A>G (p.Asp2080Gly)
n.6574A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.237627870A>TCA345410591RYR2c.6230A>T (p.Asp2077Val)
c.6182A>T (p.Asp2061Val)
c.6260A>T (p.Asp2087Val)
c.6257A>T (p.Asp2086Val)
c.6227A>T (p.Asp2076Val)
n.6541A>T
c.6239A>T (p.Asp2080Val)
n.6574A>T
1g.237627871C>ACA345410600RYR2c.6231C>A (p.Asp2077Glu)
c.6183C>A (p.Asp2061Glu)
c.6261C>A (p.Asp2087Glu)
c.6258C>A (p.Asp2086Glu)
c.6228C>A (p.Asp2076Glu)
n.6542C>A
c.6240C>A (p.Asp2080Glu)
n.6575C>A
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.237627871C=CA2487417971RYR2c.6231C= (p.Asp2077=)
c.6183C= (p.Asp2061=)
c.6261C= (p.Asp2087=)
c.6258C= (p.Asp2086=)
c.6228C= (p.Asp2076=)
n.6542C=
c.6240C= (p.Asp2080=)
n.6575C=
1g.237627871C>GCA345410603RYR2c.6231C>G (p.Asp2077Glu)
c.6183C>G (p.Asp2061Glu)
c.6261C>G (p.Asp2087Glu)
c.6258C>G (p.Asp2086Glu)
c.6228C>G (p.Asp2076Glu)
n.6542C>G
c.6240C>G (p.Asp2080Glu)
n.6575C>G
1g.237627871C>TCA423821696RYR2c.6231C>T (p.Asp2077=)
c.6183C>T (p.Asp2061=)
c.6261C>T (p.Asp2087=)
c.6258C>T (p.Asp2086=)
c.6228C>T (p.Asp2076=)
n.6542C>T
c.6240C>T (p.Asp2080=)
n.6575C>T
1g.237627872C>ACA345410607RYR2c.6232C>A (p.Pro2078Thr)
c.6184C>A (p.Pro2062Thr)
c.6262C>A (p.Pro2088Thr)
c.6259C>A (p.Pro2087Thr)
c.6229C>A (p.Pro2077Thr)
n.6543C>A
c.6241C>A (p.Pro2081Thr)
n.6576C>A
1g.237627872C=CA2487417972RYR2c.6232C= (p.Pro2078=)
c.6184C= (p.Pro2062=)
c.6262C= (p.Pro2088=)
c.6259C= (p.Pro2087=)
c.6229C= (p.Pro2077=)
n.6543C=
c.6241C= (p.Pro2081=)
n.6576C=
1g.237627872C>GCA345410609RYR2c.6232C>G (p.Pro2078Ala)
c.6184C>G (p.Pro2062Ala)
c.6262C>G (p.Pro2088Ala)
c.6259C>G (p.Pro2087Ala)
c.6229C>G (p.Pro2077Ala)
n.6543C>G
c.6241C>G (p.Pro2081Ala)
n.6576C>G
 dbSNP gnomAD v3 gnomAD v4
1g.237627872C>TCA087077RYR2c.6232C>T (p.Pro2078Ser)
c.6184C>T (p.Pro2062Ser)
c.6262C>T (p.Pro2088Ser)
c.6259C>T (p.Pro2087Ser)
c.6229C>T (p.Pro2077Ser)
n.6543C>T
c.6241C>T (p.Pro2081Ser)
n.6576C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.237627872_237627881delinsTCCCA2586968536RYR2c.6232_6241delinsTCC (p.Pro2078SerfsTer2)
c.6184_6193delinsTCC (p.Pro2062SerfsTer2)
c.6262_6271delinsTCC (p.Pro2088SerfsTer2)
c.6259_6268delinsTCC (p.Pro2087SerfsTer2)
c.6229_6238delinsTCC (p.Pro2077SerfsTer2)
n.6543_6552delinsTCC
c.6241_6250delinsTCC (p.Pro2081SerfsTer2)
n.6576_6585delinsTCC
1g.237627873C>ACA345410617RYR2c.6233C>A (p.Pro2078His)
c.6185C>A (p.Pro2062His)
c.6263C>A (p.Pro2088His)
c.6260C>A (p.Pro2087His)
c.6230C>A (p.Pro2077His)
n.6544C>A
c.6242C>A (p.Pro2081His)
n.6577C>A
1g.237627873C=CA2487417973RYR2c.6233C= (p.Pro2078=)
c.6185C= (p.Pro2062=)
c.6263C= (p.Pro2088=)
c.6260C= (p.Pro2087=)
c.6230C= (p.Pro2077=)
n.6544C=
c.6242C= (p.Pro2081=)
n.6577C=
1g.237627873C>GCA345410622RYR2c.6233C>G (p.Pro2078Arg)
c.6185C>G (p.Pro2062Arg)
c.6263C>G (p.Pro2088Arg)
c.6260C>G (p.Pro2087Arg)
c.6230C>G (p.Pro2077Arg)
n.6544C>G
c.6242C>G (p.Pro2081Arg)
n.6577C>G
1g.237627873C>TCA345410625RYR2c.6233C>T (p.Pro2078Leu)
c.6185C>T (p.Pro2062Leu)
c.6263C>T (p.Pro2088Leu)
c.6260C>T (p.Pro2087Leu)
c.6230C>T (p.Pro2077Leu)
n.6544C>T
c.6242C>T (p.Pro2081Leu)
n.6577C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.237627874C>ACA423821697RYR2c.6234C>A (p.Pro2078=)
c.6186C>A (p.Pro2062=)
c.6264C>A (p.Pro2088=)
c.6261C>A (p.Pro2087=)
c.6231C>A (p.Pro2077=)
n.6545C>A
c.6243C>A (p.Pro2081=)
n.6578C>A
1g.237627874C=CA1148721205RYR2c.6234C= (p.Pro2078=)
c.6186C= (p.Pro2062=)
c.6264C= (p.Pro2088=)
c.6261C= (p.Pro2087=)
c.6231C= (p.Pro2077=)
n.6545C=
c.6243C= (p.Pro2081=)
n.6578C=
1g.237627874C>GCA423821698RYR2c.6234C>G (p.Pro2078=)
c.6186C>G (p.Pro2062=)
c.6264C>G (p.Pro2088=)
c.6261C>G (p.Pro2087=)
c.6231C>G (p.Pro2077=)
n.6545C>G
c.6243C>G (p.Pro2081=)
n.6578C>G
1g.237627874C>TCA087078RYR2c.6234C>T (p.Pro2078=)
c.6186C>T (p.Pro2062=)
c.6264C>T (p.Pro2088=)
c.6261C>T (p.Pro2087=)
c.6231C>T (p.Pro2077=)
n.6545C>T
c.6243C>T (p.Pro2081=)
n.6578C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.237627875G>ACA087079RYR2c.6235G>A (p.Glu2079Lys)
c.6187G>A (p.Glu2063Lys)
c.6265G>A (p.Glu2089Lys)
c.6262G>A (p.Glu2088Lys)
c.6232G>A (p.Glu2078Lys)
n.6546G>A
c.6244G>A (p.Glu2082Lys)
n.6579G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.237627875G>CCA345410635RYR2c.6235G>C (p.Glu2079Gln)
c.6187G>C (p.Glu2063Gln)
c.6265G>C (p.Glu2089Gln)
c.6262G>C (p.Glu2088Gln)
c.6232G>C (p.Glu2078Gln)
n.6546G>C
c.6244G>C (p.Glu2082Gln)
n.6579G>C
 dbSNP gnomAD v2 gnomAD v4
1g.237627875G=CA2487417974RYR2c.6235G= (p.Glu2079=)
c.6187G= (p.Glu2063=)
c.6265G= (p.Glu2089=)
c.6262G= (p.Glu2088=)
c.6232G= (p.Glu2078=)
n.6546G=
c.6244G= (p.Glu2082=)
n.6579G=
1g.237627875G>TCA345410637RYR2c.6235G>T (p.Glu2079Ter)
c.6187G>T (p.Glu2063Ter)
c.6265G>T (p.Glu2089Ter)
c.6262G>T (p.Glu2088Ter)
c.6232G>T (p.Glu2078Ter)
n.6546G>T
c.6244G>T (p.Glu2082Ter)
n.6579G>T
1g.237627876A>CCA345410641RYR2c.6236A>C (p.Glu2079Ala)
c.6188A>C (p.Glu2063Ala)
c.6266A>C (p.Glu2089Ala)
c.6263A>C (p.Glu2088Ala)
c.6233A>C (p.Glu2078Ala)
n.6547A>C
c.6245A>C (p.Glu2082Ala)
n.6580A>C
 ClinVar gnomAD v4
1g.237627876A>GCA345410646RYR2c.6236A>G (p.Glu2079Gly)
c.6188A>G (p.Glu2063Gly)
c.6266A>G (p.Glu2089Gly)
c.6263A>G (p.Glu2088Gly)
c.6233A>G (p.Glu2078Gly)
n.6547A>G
c.6245A>G (p.Glu2082Gly)
n.6580A>G
1g.237627876A>TCA345410650RYR2c.6236A>T (p.Glu2079Val)
c.6188A>T (p.Glu2063Val)
c.6266A>T (p.Glu2089Val)
c.6263A>T (p.Glu2088Val)
c.6233A>T (p.Glu2078Val)
n.6547A>T
c.6245A>T (p.Glu2082Val)
n.6580A>T
1g.237627877G>ACA423821699RYR2c.6237G>A (p.Glu2079=)
c.6189G>A (p.Glu2063=)
c.6267G>A (p.Glu2089=)
c.6264G>A (p.Glu2088=)
c.6234G>A (p.Glu2078=)
n.6548G>A
c.6246G>A (p.Glu2082=)
n.6581G>A
1g.237627877G>CCA345410654RYR2c.6237G>C (p.Glu2079Asp)
c.6189G>C (p.Glu2063Asp)
c.6267G>C (p.Glu2089Asp)
c.6264G>C (p.Glu2088Asp)
c.6234G>C (p.Glu2078Asp)
n.6548G>C
c.6246G>C (p.Glu2082Asp)
n.6581G>C
1g.237627877G>TCA345410655RYR2c.6237G>T (p.Glu2079Asp)
c.6189G>T (p.Glu2063Asp)
c.6267G>T (p.Glu2089Asp)
c.6264G>T (p.Glu2088Asp)
c.6234G>T (p.Glu2078Asp)
n.6548G>T
c.6246G>T (p.Glu2082Asp)
n.6581G>T
1g.237627878C>ACA345410660RYR2c.6238C>A (p.Leu2080Met)
c.6190C>A (p.Leu2064Met)
c.6268C>A (p.Leu2090Met)
c.6265C>A (p.Leu2089Met)
c.6235C>A (p.Leu2079Met)
n.6549C>A
c.6247C>A (p.Leu2083Met)
n.6582C>A
1g.237627878C=CA2487417975RYR2c.6238C= (p.Leu2080=)
c.6190C= (p.Leu2064=)
c.6268C= (p.Leu2090=)
c.6265C= (p.Leu2089=)
c.6235C= (p.Leu2079=)
n.6549C=
c.6247C= (p.Leu2083=)
n.6582C=
1g.237627878C>GCA345410661RYR2c.6238C>G (p.Leu2080Val)
c.6190C>G (p.Leu2064Val)
c.6268C>G (p.Leu2090Val)
c.6265C>G (p.Leu2089Val)
c.6235C>G (p.Leu2079Val)
n.6549C>G
c.6247C>G (p.Leu2083Val)
n.6582C>G
 COSMIC COSMIC
1g.237627878C>TCA423821700RYR2c.6238C>T (p.Leu2080=)
c.6190C>T (p.Leu2064=)
c.6268C>T (p.Leu2090=)
c.6265C>T (p.Leu2089=)
c.6235C>T (p.Leu2079=)
n.6549C>T
c.6247C>T (p.Leu2083=)
n.6582C>T
 dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched