Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38584904G>ACA2335094901RYR1c.1583-39G>A
c.2980-39G>A
c.2952-39G>A
n.1G>A
c.14647-39G>A (n.14647-39G>A)
c.14632-39G>A (n.14632-39G>A)
c.14629-39G>A (n.14629-39G>A)
c.14614-39G>A (n.14614-39G>A)
c.14644-39G>A (n.14644-39G>A)
c.14560-39G>A (n.14560-39G>A)
 dbSNP
19g.38584904G=CA2335094900RYR1c.1583-39G=
c.2980-39G=
c.2952-39G=
n.1G=
c.14647-39G= (n.14647-39G=)
c.14632-39G= (n.14632-39G=)
c.14629-39G= (n.14629-39G=)
c.14614-39G= (n.14614-39G=)
c.14644-39G= (n.14644-39G=)
c.14560-39G= (n.14560-39G=)
19g.38584904G>TCA2576827549RYR1c.1583-39G>T
c.2980-39G>T
c.2952-39G>T
n.1G>T
c.14647-39G>T (n.14647-39G>T)
c.14632-39G>T (n.14632-39G>T)
c.14629-39G>T (n.14629-39G>T)
c.14614-39G>T (n.14614-39G>T)
c.14644-39G>T (n.14644-39G>T)
c.14560-39G>T (n.14560-39G>T)
 gnomAD v4
19g.38584906C>ACA2335094903RYR1c.1583-37C>A
c.2980-37C>A
c.2952-37C>A
n.3C>A
c.14647-37C>A (n.14647-37C>A)
c.14632-37C>A (n.14632-37C>A)
c.14629-37C>A (n.14629-37C>A)
c.14614-37C>A (n.14614-37C>A)
c.14644-37C>A (n.14644-37C>A)
c.14560-37C>A (n.14560-37C>A)
 dbSNP gnomAD v4
19g.38584906C=CA2335094902RYR1c.1583-37C=
c.2980-37C=
c.2952-37C=
n.3C=
c.14647-37C= (n.14647-37C=)
c.14632-37C= (n.14632-37C=)
c.14629-37C= (n.14629-37C=)
c.14614-37C= (n.14614-37C=)
c.14644-37C= (n.14644-37C=)
c.14560-37C= (n.14560-37C=)
19g.38584906C>GCA2584911005RYR1c.1583-37C>G
c.2980-37C>G
c.2952-37C>G
n.3C>G
c.14647-37C>G (n.14647-37C>G)
c.14632-37C>G (n.14632-37C>G)
c.14629-37C>G (n.14629-37C>G)
c.14614-37C>G (n.14614-37C>G)
c.14644-37C>G (n.14644-37C>G)
c.14560-37C>G (n.14560-37C>G)
 gnomAD v4
19g.38584906C>TCA061488RYR1c.1583-37C>T
c.2980-37C>T
c.2952-37C>T
n.3C>T
c.14647-37C>T (n.14647-37C>T)
c.14632-37C>T (n.14632-37C>T)
c.14629-37C>T (n.14629-37C>T)
c.14614-37C>T (n.14614-37C>T)
c.14644-37C>T (n.14644-37C>T)
c.14560-37C>T (n.14560-37C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38584907G>ACA061484RYR1c.1583-36G>A
c.2980-36G>A
c.2952-36G>A
n.4G>A
c.14647-36G>A (n.14647-36G>A)
c.14632-36G>A (n.14632-36G>A)
c.14629-36G>A (n.14629-36G>A)
c.14614-36G>A (n.14614-36G>A)
c.14644-36G>A (n.14644-36G>A)
c.14560-36G>A (n.14560-36G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38584907G>CCA2581382561RYR1c.1583-36G>C
c.2980-36G>C
c.2952-36G>C
n.4G>C
c.14647-36G>C (n.14647-36G>C)
c.14632-36G>C (n.14632-36G>C)
c.14629-36G>C (n.14629-36G>C)
c.14614-36G>C (n.14614-36G>C)
c.14644-36G>C (n.14644-36G>C)
c.14560-36G>C (n.14560-36G>C)
19g.38584907G=CA2335094904RYR1c.1583-36G=
c.2980-36G=
c.2952-36G=
n.4G=
c.14647-36G= (n.14647-36G=)
c.14632-36G= (n.14632-36G=)
c.14629-36G= (n.14629-36G=)
c.14614-36G= (n.14614-36G=)
c.14644-36G= (n.14644-36G=)
c.14560-36G= (n.14560-36G=)
19g.38584907G>TCA633066997RYR1c.1583-36G>T
c.2980-36G>T
c.2952-36G>T
n.4G>T
c.14647-36G>T (n.14647-36G>T)
c.14632-36G>T (n.14632-36G>T)
c.14629-36G>T (n.14629-36G>T)
c.14614-36G>T (n.14614-36G>T)
c.14644-36G>T (n.14644-36G>T)
c.14560-36G>T (n.14560-36G>T)
 dbSNP gnomAD v2 gnomAD v4
19g.38584910T>CCA2584911006RYR1c.1583-33T>C
c.2980-33T>C
c.2952-33T>C
n.7T>C
c.14647-33T>C (n.14647-33T>C)
c.14632-33T>C (n.14632-33T>C)
c.14629-33T>C (n.14629-33T>C)
c.14614-33T>C (n.14614-33T>C)
c.14644-33T>C (n.14644-33T>C)
c.14560-33T>C (n.14560-33T>C)
 gnomAD v4
19g.38584912A=CA2335094905RYR1c.1583-31A=
c.2980-31A=
c.2952-31A=
n.9A=
c.14647-31A= (n.14647-31A=)
c.14632-31A= (n.14632-31A=)
c.14629-31A= (n.14629-31A=)
c.14614-31A= (n.14614-31A=)
c.14644-31A= (n.14644-31A=)
c.14560-31A= (n.14560-31A=)
19g.38584912_38584913insCCCA2335094906RYR1c.1583-31_1583-30insCC
c.2980-31_2980-30insCC
c.2952-31_2952-30insCC
n.9_10insCC
c.14647-31_14647-30insCC (n.14647-31_14647-30insCC)
c.14632-31_14632-30insCC (n.14632-31_14632-30insCC)
c.14629-31_14629-30insCC (n.14629-31_14629-30insCC)
c.14614-31_14614-30insCC (n.14614-31_14614-30insCC)
c.14644-31_14644-30insCC (n.14644-31_14644-30insCC)
c.14560-31_14560-30insCC (n.14560-31_14560-30insCC)
 dbSNP
19g.38584913A=CA2335094907RYR1c.1583-30A=
c.2980-30A=
c.2952-30A=
n.10A=
c.14647-30A= (n.14647-30A=)
c.14632-30A= (n.14632-30A=)
c.14629-30A= (n.14629-30A=)
c.14614-30A= (n.14614-30A=)
c.14644-30A= (n.14644-30A=)
c.14560-30A= (n.14560-30A=)
19g.38584913A>GCA061482RYR1c.1583-30A>G
c.2980-30A>G
c.2952-30A>G
n.10A>G
c.14647-30A>G (n.14647-30A>G)
c.14632-30A>G (n.14632-30A>G)
c.14629-30A>G (n.14629-30A>G)
c.14614-30A>G (n.14614-30A>G)
c.14644-30A>G (n.14644-30A>G)
c.14560-30A>G (n.14560-30A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38584915G>TCA2584911007RYR1c.1583-28G>T
c.2980-28G>T
c.2952-28G>T
n.12G>T
c.14647-28G>T (n.14647-28G>T)
c.14632-28G>T (n.14632-28G>T)
c.14629-28G>T (n.14629-28G>T)
c.14614-28G>T (n.14614-28G>T)
c.14644-28G>T (n.14644-28G>T)
c.14560-28G>T (n.14560-28G>T)
 gnomAD v4
19g.38584916A>GCA081287RYR1c.1583-27A>G
c.2980-27A>G
c.2952-27A>G
n.13A>G
c.14647-27A>G (n.14647-27A>G)
c.14632-27A>G (n.14632-27A>G)
c.14629-27A>G (n.14629-27A>G)
c.14614-27A>G (n.14614-27A>G)
c.14644-27A>G (n.14644-27A>G)
c.14560-27A>G (n.14560-27A>G)
19g.38584916A>TCA2584911008RYR1c.1583-27A>T
c.2980-27A>T
c.2952-27A>T
n.13A>T
c.14647-27A>T (n.14647-27A>T)
c.14632-27A>T (n.14632-27A>T)
c.14629-27A>T (n.14629-27A>T)
c.14614-27A>T (n.14614-27A>T)
c.14644-27A>T (n.14644-27A>T)
c.14560-27A>T (n.14560-27A>T)
 gnomAD v4
19g.38584917G>ACA2814346505RYR1c.1583-26G>A
c.2980-26G>A
c.2952-26G>A
n.14G>A
c.14647-26G>A (n.14647-26G>A)
c.14632-26G>A (n.14632-26G>A)
c.14629-26G>A (n.14629-26G>A)
c.14614-26G>A (n.14614-26G>A)
c.14644-26G>A (n.14644-26G>A)
c.14560-26G>A (n.14560-26G>A)
19g.38584919G>ACA308125373RYR1c.1583-24G>A
c.2980-24G>A
c.2952-24G>A
n.16G>A
c.14647-24G>A (n.14647-24G>A)
c.14632-24G>A (n.14632-24G>A)
c.14629-24G>A (n.14629-24G>A)
c.14614-24G>A (n.14614-24G>A)
c.14644-24G>A (n.14644-24G>A)
c.14560-24G>A (n.14560-24G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38584919G=CA2335094908RYR1c.1583-24G=
c.2980-24G=
c.2952-24G=
n.16G=
c.14647-24G= (n.14647-24G=)
c.14632-24G= (n.14632-24G=)
c.14629-24G= (n.14629-24G=)
c.14614-24G= (n.14614-24G=)
c.14644-24G= (n.14644-24G=)
c.14560-24G= (n.14560-24G=)
19g.38584919G>TCA308125374RYR1c.1583-24G>T
c.2980-24G>T
c.2952-24G>T
n.16G>T
c.14647-24G>T (n.14647-24G>T)
c.14632-24G>T (n.14632-24G>T)
c.14629-24G>T (n.14629-24G>T)
c.14614-24G>T (n.14614-24G>T)
c.14644-24G>T (n.14644-24G>T)
c.14560-24G>T (n.14560-24G>T)
 dbSNP gnomAD v3 gnomAD v4
19g.38584921C>TCA2576827550RYR1c.1583-22C>T
c.2980-22C>T
c.2952-22C>T
n.18C>T
c.14647-22C>T (n.14647-22C>T)
c.14632-22C>T (n.14632-22C>T)
c.14629-22C>T (n.14629-22C>T)
c.14614-22C>T (n.14614-22C>T)
c.14644-22C>T (n.14644-22C>T)
c.14560-22C>T (n.14560-22C>T)
19g.38584921_38584939delinsCCAGTGTGCTCCCCTCCCTCA2335094909RYR1c.1583-22_1583-4delinsCCAGTGTGCTCCCCTCCCT
c.2980-22_2980-4delinsCCAGTGTGCTCCCCTCCCT
c.2952-22_2952-4delinsCCAGTGTGCTCCCCTCCCT
n.18_36delinsCCAGTGTGCTCCCCTCCCT
c.14647-22_14647-4delinsCCAGTGTGCTCCCCTCCCT (n.14647-22_14647-4delinsCCAGTGTGCTCCCCTCCCT)
c.14632-22_14632-4delinsCCAGTGTGCTCCCCTCCCT (n.14632-22_14632-4delinsCCAGTGTGCTCCCCTCCCT)
c.14629-22_14629-4delinsCCAGTGTGCTCCCCTCCCT (n.14629-22_14629-4delinsCCAGTGTGCTCCCCTCCCT)
c.14614-22_14614-4delinsCCAGTGTGCTCCCCTCCCT (n.14614-22_14614-4delinsCCAGTGTGCTCCCCTCCCT)
c.14644-22_14644-4delinsCCAGTGTGCTCCCCTCCCT (n.14644-22_14644-4delinsCCAGTGTGCTCCCCTCCCT)
c.14560-22_14560-4delinsCCAGTGTGCTCCCCTCCCT (n.14560-22_14560-4delinsCCAGTGTGCTCCCCTCCCT)
19g.38584928_38584945delCA915953039RYR1c.1583-15_1585del
c.2980-15_2982del
c.2952-15_2954del
n.25_42del
c.14647-15_14649del
c.14632-15_14634del
c.14629-15_14631del
c.14614-15_14616del
c.14644-15_14646del
c.14560-15_14562del
 ClinVar dbSNP
19g.38584924G>ACA2576827552RYR1c.1583-19G>A
c.2980-19G>A
c.2952-19G>A
n.21G>A
c.14647-19G>A (n.14647-19G>A)
c.14632-19G>A (n.14632-19G>A)
c.14629-19G>A (n.14629-19G>A)
c.14614-19G>A (n.14614-19G>A)
c.14644-19G>A (n.14644-19G>A)
c.14560-19G>A (n.14560-19G>A)
 ClinVar gnomAD v4
19g.38584924G>CCA2576827551RYR1c.1583-19G>C
c.2980-19G>C
c.2952-19G>C
n.21G>C
c.14647-19G>C (n.14647-19G>C)
c.14632-19G>C (n.14632-19G>C)
c.14629-19G>C (n.14629-19G>C)
c.14614-19G>C (n.14614-19G>C)
c.14644-19G>C (n.14644-19G>C)
c.14560-19G>C (n.14560-19G>C)
19g.38584924_38584925delinsGTCA2335094910RYR1c.1583-19_1583-18delinsGT
c.2980-19_2980-18delinsGT
c.2952-19_2952-18delinsGT
n.21_22delinsGT
c.14647-19_14647-18delinsGT (n.14647-19_14647-18delinsGT)
c.14632-19_14632-18delinsGT (n.14632-19_14632-18delinsGT)
c.14629-19_14629-18delinsGT (n.14629-19_14629-18delinsGT)
c.14614-19_14614-18delinsGT (n.14614-19_14614-18delinsGT)
c.14644-19_14644-18delinsGT (n.14644-19_14644-18delinsGT)
c.14560-19_14560-18delinsGT (n.14560-19_14560-18delinsGT)
19g.38584925delCA061480RYR1c.1583-18del
c.2980-18del
c.2952-18del
n.22del
c.14647-18del (n.14647-18del)
c.14632-18del (n.14632-18del)
c.14629-18del (n.14629-18del)
c.14614-18del (n.14614-18del)
c.14644-18del (n.14644-18del)
c.14560-18del (n.14560-18del)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38584925T>CCA2584911009RYR1c.1583-18T>C
c.2980-18T>C
c.2952-18T>C
n.22T>C
c.14647-18T>C (n.14647-18T>C)
c.14632-18T>C (n.14632-18T>C)
c.14629-18T>C (n.14629-18T>C)
c.14614-18T>C (n.14614-18T>C)
c.14644-18T>C (n.14644-18T>C)
c.14560-18T>C (n.14560-18T>C)
 ClinVar gnomAD v4
19g.38584926G>ACA2335094912RYR1c.1583-17G>A
c.2980-17G>A
c.2952-17G>A
n.23G>A
c.14647-17G>A (n.14647-17G>A)
c.14632-17G>A (n.14632-17G>A)
c.14629-17G>A (n.14629-17G>A)
c.14614-17G>A (n.14614-17G>A)
c.14644-17G>A (n.14644-17G>A)
c.14560-17G>A (n.14560-17G>A)
 dbSNP gnomAD v4
19g.38584926G=CA2335094911RYR1c.1583-17G=
c.2980-17G=
c.2952-17G=
n.23G=
c.14647-17G= (n.14647-17G=)
c.14632-17G= (n.14632-17G=)
c.14629-17G= (n.14629-17G=)
c.14614-17G= (n.14614-17G=)
c.14644-17G= (n.14644-17G=)
c.14560-17G= (n.14560-17G=)
19g.38584928G>CCA995742888RYR1c.1583-15G>C
c.2980-15G>C
c.2952-15G>C
n.25G>C
c.14647-15G>C (n.14647-15G>C)
c.14632-15G>C (n.14632-15G>C)
c.14629-15G>C (n.14629-15G>C)
c.14614-15G>C (n.14614-15G>C)
c.14644-15G>C (n.14644-15G>C)
c.14560-15G>C (n.14560-15G>C)
 dbSNP gnomAD v3 gnomAD v4
19g.38584928G=CA2335094913RYR1c.1583-15G=
c.2980-15G=
c.2952-15G=
n.25G=
c.14647-15G= (n.14647-15G=)
c.14632-15G= (n.14632-15G=)
c.14629-15G= (n.14629-15G=)
c.14614-15G= (n.14614-15G=)
c.14644-15G= (n.14644-15G=)
c.14560-15G= (n.14560-15G=)
19g.38584928G>TCA2584911011RYR1c.1583-15G>T
c.2980-15G>T
c.2952-15G>T
n.25G>T
c.14647-15G>T (n.14647-15G>T)
c.14632-15G>T (n.14632-15G>T)
c.14629-15G>T (n.14629-15G>T)
c.14614-15G>T (n.14614-15G>T)
c.14644-15G>T (n.14644-15G>T)
c.14560-15G>T (n.14560-15G>T)
 gnomAD v4
19g.38584929C>TCA2576827553RYR1c.1583-14C>T
c.2980-14C>T
c.2952-14C>T
n.26C>T
c.14647-14C>T (n.14647-14C>T)
c.14632-14C>T (n.14632-14C>T)
c.14629-14C>T (n.14629-14C>T)
c.14614-14C>T (n.14614-14C>T)
c.14644-14C>T (n.14644-14C>T)
c.14560-14C>T (n.14560-14C>T)
 ClinVar gnomAD v4
19g.38584930T>CCA633066998RYR1c.1583-13T>C
c.2980-13T>C
c.2952-13T>C
n.27T>C
c.14647-13T>C (n.14647-13T>C)
c.14632-13T>C (n.14632-13T>C)
c.14629-13T>C (n.14629-13T>C)
c.14614-13T>C (n.14614-13T>C)
c.14644-13T>C (n.14644-13T>C)
c.14560-13T>C (n.14560-13T>C)
 ClinVar dbSNP gnomAD v2
19g.38584930T=CA2335094914RYR1c.1583-13T=
c.2980-13T=
c.2952-13T=
n.27T=
c.14647-13T= (n.14647-13T=)
c.14632-13T= (n.14632-13T=)
c.14629-13T= (n.14629-13T=)
c.14614-13T= (n.14614-13T=)
c.14644-13T= (n.14644-13T=)
c.14560-13T= (n.14560-13T=)
19g.38584931C=CA2335094915RYR1c.1583-12C=
c.2980-12C=
c.2952-12C=
n.28C=
c.14647-12C= (n.14647-12C=)
c.14632-12C= (n.14632-12C=)
c.14629-12C= (n.14629-12C=)
c.14614-12C= (n.14614-12C=)
c.14644-12C= (n.14644-12C=)
c.14560-12C= (n.14560-12C=)
19g.38584931C>GCA061476RYR1c.1583-12C>G
c.2980-12C>G
c.2952-12C>G
n.28C>G
c.14647-12C>G (n.14647-12C>G)
c.14632-12C>G (n.14632-12C>G)
c.14629-12C>G (n.14629-12C>G)
c.14614-12C>G (n.14614-12C>G)
c.14644-12C>G (n.14644-12C>G)
c.14560-12C>G (n.14560-12C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38584931C>TCA633066999RYR1c.1583-12C>T
c.2980-12C>T
c.2952-12C>T
n.28C>T
c.14647-12C>T (n.14647-12C>T)
c.14632-12C>T (n.14632-12C>T)
c.14629-12C>T (n.14629-12C>T)
c.14614-12C>T (n.14614-12C>T)
c.14644-12C>T (n.14644-12C>T)
c.14560-12C>T (n.14560-12C>T)
 dbSNP gnomAD v2 gnomAD v4
19g.38584932C=CA2335094916RYR1c.1583-11C=
c.2980-11C=
c.2952-11C=
n.29C=
c.14647-11C= (n.14647-11C=)
c.14632-11C= (n.14632-11C=)
c.14629-11C= (n.14629-11C=)
c.14614-11C= (n.14614-11C=)
c.14644-11C= (n.14644-11C=)
c.14560-11C= (n.14560-11C=)
19g.38584932C>TCA633067000RYR1c.1583-11C>T
c.2980-11C>T
c.2952-11C>T
n.29C>T
c.14647-11C>T (n.14647-11C>T)
c.14632-11C>T (n.14632-11C>T)
c.14629-11C>T (n.14629-11C>T)
c.14614-11C>T (n.14614-11C>T)
c.14644-11C>T (n.14644-11C>T)
c.14560-11C>T (n.14560-11C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38584933C=CA2335094917RYR1c.1583-10C=
c.2980-10C=
c.2952-10C=
n.30C=
c.14647-10C= (n.14647-10C=)
c.14632-10C= (n.14632-10C=)
c.14629-10C= (n.14629-10C=)
c.14614-10C= (n.14614-10C=)
c.14644-10C= (n.14644-10C=)
c.14560-10C= (n.14560-10C=)
19g.38584933C>TCA061475RYR1c.1583-10C>T
c.2980-10C>T
c.2952-10C>T
n.30C>T
c.14647-10C>T (n.14647-10C>T)
c.14632-10C>T (n.14632-10C>T)
c.14629-10C>T (n.14629-10C>T)
c.14614-10C>T (n.14614-10C>T)
c.14644-10C>T (n.14644-10C>T)
c.14560-10C>T (n.14560-10C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38584934C=CA2335094918RYR1c.1583-9C=
c.2980-9C=
c.2952-9C=
n.31C=
c.14647-9C= (n.14647-9C=)
c.14632-9C= (n.14632-9C=)
c.14629-9C= (n.14629-9C=)
c.14614-9C= (n.14614-9C=)
c.14644-9C= (n.14644-9C=)
c.14560-9C= (n.14560-9C=)
19g.38584934C>GCA081285RYR1c.1583-9C>G
c.2980-9C>G
c.2952-9C>G
n.31C>G
c.14647-9C>G (n.14647-9C>G)
c.14632-9C>G (n.14632-9C>G)
c.14629-9C>G (n.14629-9C>G)
c.14614-9C>G (n.14614-9C>G)
c.14644-9C>G (n.14644-9C>G)
c.14560-9C>G (n.14560-9C>G)
19g.38584934C>TCA633067001RYR1c.1583-9C>T
c.2980-9C>T
c.2952-9C>T
n.31C>T
c.14647-9C>T (n.14647-9C>T)
c.14632-9C>T (n.14632-9C>T)
c.14629-9C>T (n.14629-9C>T)
c.14614-9C>T (n.14614-9C>T)
c.14644-9C>T (n.14644-9C>T)
c.14560-9C>T (n.14560-9C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38584936C>TCA081284RYR1c.1583-7C>T
c.2980-7C>T
c.2952-7C>T
n.33C>T
c.14647-7C>T (n.14647-7C>T)
c.14632-7C>T (n.14632-7C>T)
c.14629-7C>T (n.14629-7C>T)
c.14614-7C>T (n.14614-7C>T)
c.14644-7C>T (n.14644-7C>T)
c.14560-7C>T (n.14560-7C>T)
19g.38584937C>TCA645613557RYR1c.1583-6C>T
c.2980-6C>T
c.2952-6C>T
n.34C>T
c.14647-6C>T (n.14647-6C>T)
c.14632-6C>T (n.14632-6C>T)
c.14629-6C>T (n.14629-6C>T)
c.14614-6C>T (n.14614-6C>T)
c.14644-6C>T (n.14644-6C>T)
c.14560-6C>T (n.14560-6C>T)
 COSMIC
19g.38584938C>ACA2551948338RYR1c.1583-5C>A
c.2980-5C>A
c.2952-5C>A
n.35C>A
c.14647-5C>A (n.14647-5C>A)
c.14632-5C>A (n.14632-5C>A)
c.14629-5C>A (n.14629-5C>A)
c.14614-5C>A (n.14614-5C>A)
c.14644-5C>A (n.14644-5C>A)
c.14560-5C>A (n.14560-5C>A)
19g.38584938C=CA2335094919RYR1c.1583-5C=
c.2980-5C=
c.2952-5C=
n.35C=
c.14647-5C= (n.14647-5C=)
c.14632-5C= (n.14632-5C=)
c.14629-5C= (n.14629-5C=)
c.14614-5C= (n.14614-5C=)
c.14644-5C= (n.14644-5C=)
c.14560-5C= (n.14560-5C=)
19g.38584938C>TCA061492RYR1c.1583-5C>T
c.2980-5C>T
c.2952-5C>T
n.35C>T
c.14647-5C>T (n.14647-5C>T)
c.14632-5C>T (n.14632-5C>T)
c.14629-5C>T (n.14629-5C>T)
c.14614-5C>T (n.14614-5C>T)
c.14644-5C>T (n.14644-5C>T)
c.14560-5C>T (n.14560-5C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38584938_38584942delinsCTCAGCA2335094920RYR1c.1583-5_1583-1delinsCTCAG
c.2980-5_2980-1delinsCTCAG
c.2952-5_2952-1delinsCTCAG
n.35_39delinsCTCAG
c.14647-5_14647-1delinsCTCAG (n.14647-5_14647-1delinsCTCAG)
c.14632-5_14632-1delinsCTCAG (n.14632-5_14632-1delinsCTCAG)
c.14629-5_14629-1delinsCTCAG (n.14629-5_14629-1delinsCTCAG)
c.14614-5_14614-1delinsCTCAG (n.14614-5_14614-1delinsCTCAG)
c.14644-5_14644-1delinsCTCAG (n.14644-5_14644-1delinsCTCAG)
c.14560-5_14560-1delinsCTCAG (n.14560-5_14560-1delinsCTCAG)
19g.38584939T>GCA061490RYR1c.1583-4T>G
c.2980-4T>G
c.2952-4T>G
n.36T>G
c.14647-4T>G (n.14647-4T>G)
c.14632-4T>G (n.14632-4T>G)
c.14629-4T>G (n.14629-4T>G)
c.14614-4T>G (n.14614-4T>G)
c.14644-4T>G (n.14644-4T>G)
c.14560-4T>G (n.14560-4T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38584939T=CA2335094921RYR1c.1583-4T=
c.2980-4T=
c.2952-4T=
n.36T=
c.14647-4T= (n.14647-4T=)
c.14632-4T= (n.14632-4T=)
c.14629-4T= (n.14629-4T=)
c.14614-4T= (n.14614-4T=)
c.14644-4T= (n.14644-4T=)
c.14560-4T= (n.14560-4T=)
19g.38584940_38584943delCA633067002RYR1c.1583-3_1583del
c.2980-3_2980del
c.2952-3_2952del
n.37_40del
c.14647-3_14647del
c.14632-3_14632del
c.14629-3_14629del
c.14614-3_14614del
c.14644-3_14644del
c.14560-3_14560del
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38584940C=CA2335094922RYR1c.1583-3C=
c.2980-3C=
c.2952-3C=
n.37C=
c.14647-3C= (n.14647-3C=)
c.14632-3C= (n.14632-3C=)
c.14629-3C= (n.14629-3C=)
c.14614-3C= (n.14614-3C=)
c.14644-3C= (n.14644-3C=)
c.14560-3C= (n.14560-3C=)
19g.38584940C>GCA915940775RYR1c.1583-3C>G
c.2980-3C>G
c.2952-3C>G
n.37C>G
c.14647-3C>G (n.14647-3C>G)
c.14632-3C>G (n.14632-3C>G)
c.14629-3C>G (n.14629-3C>G)
c.14614-3C>G (n.14614-3C>G)
c.14644-3C>G (n.14644-3C>G)
c.14560-3C>G (n.14560-3C>G)
 ClinVar dbSNP
19g.38584940C>TCA2335094923RYR1c.1583-3C>T
c.2980-3C>T
c.2952-3C>T
n.37C>T
c.14647-3C>T (n.14647-3C>T)
c.14632-3C>T (n.14632-3C>T)
c.14629-3C>T (n.14629-3C>T)
c.14614-3C>T (n.14614-3C>T)
c.14644-3C>T (n.14644-3C>T)
c.14560-3C>T (n.14560-3C>T)
 ClinVar dbSNP
19g.38584941A>CCA405689963RYR1c.1583-2A>C
c.2980-2A>C
c.2952-2A>C
n.38A>C
c.14647-2A>C (n.14647-2A>C)
c.14632-2A>C (n.14632-2A>C)
c.14629-2A>C (n.14629-2A>C)
c.14614-2A>C (n.14614-2A>C)
c.14644-2A>C (n.14644-2A>C)
c.14560-2A>C (n.14560-2A>C)
19g.38584941A>GCA405689969RYR1c.1583-2A>G
c.2980-2A>G
c.2952-2A>G
n.38A>G
c.14647-2A>G (n.14647-2A>G)
c.14632-2A>G (n.14632-2A>G)
c.14629-2A>G (n.14629-2A>G)
c.14614-2A>G (n.14614-2A>G)
c.14644-2A>G (n.14644-2A>G)
c.14560-2A>G (n.14560-2A>G)
19g.38584941A>TCA405689977RYR1c.1583-2A>T
c.2980-2A>T
c.2952-2A>T
n.38A>T
c.14647-2A>T (n.14647-2A>T)
c.14632-2A>T (n.14632-2A>T)
c.14629-2A>T (n.14629-2A>T)
c.14614-2A>T (n.14614-2A>T)
c.14644-2A>T (n.14644-2A>T)
c.14560-2A>T (n.14560-2A>T)
19g.38584942G>ACA308125416RYR1c.1583-1G>A
c.2980-1G>A
c.2952-1G>A
n.39G>A
c.14647-1G>A (n.14647-1G>A)
c.14632-1G>A (n.14632-1G>A)
c.14629-1G>A (n.14629-1G>A)
c.14614-1G>A (n.14614-1G>A)
c.14644-1G>A (n.14644-1G>A)
c.14560-1G>A (n.14560-1G>A)
 dbSNP
19g.38584942G>CCA405689987RYR1c.1583-1G>C
c.2980-1G>C
c.2952-1G>C
n.39G>C
c.14647-1G>C (n.14647-1G>C)
c.14632-1G>C (n.14632-1G>C)
c.14629-1G>C (n.14629-1G>C)
c.14614-1G>C (n.14614-1G>C)
c.14644-1G>C (n.14644-1G>C)
c.14560-1G>C (n.14560-1G>C)
 dbSNP gnomAD v2 gnomAD v4
19g.38584942G=CA2335094924RYR1c.1583-1G=
c.2980-1G=
c.2952-1G=
n.39G=
c.14647-1G= (n.14647-1G=)
c.14632-1G= (n.14632-1G=)
c.14629-1G= (n.14629-1G=)
c.14614-1G= (n.14614-1G=)
c.14644-1G= (n.14644-1G=)
c.14560-1G= (n.14560-1G=)
19g.38584942G>TCA405689991RYR1c.1583-1G>T
c.2980-1G>T
c.2952-1G>T
n.39G>T
c.14647-1G>T (n.14647-1G>T)
c.14632-1G>T (n.14632-1G>T)
c.14629-1G>T (n.14629-1G>T)
c.14614-1G>T (n.14614-1G>T)
c.14644-1G>T (n.14644-1G>T)
c.14560-1G>T (n.14560-1G>T)
19g.38584943T>ACA405689996RYR1c.1583T>A
c.2980T>A
c.2952T>A
n.40T>A
c.14647T>A (p.Cys4883Ser)
c.14632T>A (p.Cys4878Ser)
c.14629T>A (p.Cys4877Ser)
c.14614T>A (p.Cys4872Ser)
c.14644T>A (p.Cys4882Ser)
c.14560T>A (p.Cys4854Ser)
 ClinVar dbSNP
19g.38584943T>CCA405690008RYR1c.1583T>C
c.2980T>C
c.2952T>C
n.40T>C
c.14647T>C (p.Cys4883Arg)
c.14632T>C (p.Cys4878Arg)
c.14629T>C (p.Cys4877Arg)
c.14614T>C (p.Cys4872Arg)
c.14644T>C (p.Cys4882Arg)
c.14560T>C (p.Cys4854Arg)
19g.38584943T>GCA405689999RYR1c.1583T>G
c.2980T>G
c.2952T>G
n.40T>G
c.14647T>G (p.Cys4883Gly)
c.14632T>G (p.Cys4878Gly)
c.14629T>G (p.Cys4877Gly)
c.14614T>G (p.Cys4872Gly)
c.14644T>G (p.Cys4882Gly)
c.14560T>G (p.Cys4854Gly)
19g.38584943T=CA2335094925RYR1c.1583T=
c.2980T=
c.2952T=
n.40T=
c.14647T= (p.Cys4883=)
c.14632T= (p.Cys4878=)
c.14629T= (p.Cys4877=)
c.14614T= (p.Cys4872=)
c.14644T= (p.Cys4882=)
c.14560T= (p.Cys4854=)
19g.38584944G>ACA405690012RYR1c.1584G>A
c.2981G>A
c.2953G>A
n.41G>A
c.14648G>A (p.Cys4883Tyr)
c.14633G>A (p.Cys4878Tyr)
c.14630G>A (p.Cys4877Tyr)
c.14615G>A (p.Cys4872Tyr)
c.14645G>A (p.Cys4882Tyr)
c.14561G>A (p.Cys4854Tyr)
19g.38584944G>CCA405690021RYR1c.1584G>C
c.2981G>C
c.2953G>C
n.41G>C
c.14648G>C (p.Cys4883Ser)
c.14633G>C (p.Cys4878Ser)
c.14630G>C (p.Cys4877Ser)
c.14615G>C (p.Cys4872Ser)
c.14645G>C (p.Cys4882Ser)
c.14561G>C (p.Cys4854Ser)
19g.38584944G>TCA405690014RYR1c.1584G>T
c.2981G>T
c.2953G>T
n.41G>T
c.14648G>T (p.Cys4883Phe)
c.14633G>T (p.Cys4878Phe)
c.14630G>T (p.Cys4877Phe)
c.14615G>T (p.Cys4872Phe)
c.14645G>T (p.Cys4882Phe)
c.14561G>T (p.Cys4854Phe)
19g.38584945T>ACA405690025RYR1c.1585T>A
c.2982T>A
c.2954T>A
n.42T>A
c.14649T>A (p.Cys4883Ter)
c.14634T>A (p.Cys4878Ter)
c.14631T>A (p.Cys4877Ter)
c.14616T>A (p.Cys4872Ter)
c.14646T>A (p.Cys4882Ter)
c.14562T>A (p.Cys4854Ter)
19g.38584945T>CCA061498RYR1c.1585T>C
c.2982T>C
c.2954T>C
n.42T>C
c.14649T>C (p.Cys4883=)
c.14634T>C (p.Cys4878=)
c.14631T>C (p.Cys4877=)
c.14616T>C (p.Cys4872=)
c.14646T>C (p.Cys4882=)
c.14562T>C (p.Cys4854=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38584945T>GCA405690032RYR1c.1585T>G
c.2982T>G
c.2954T>G
n.42T>G
c.14649T>G (p.Cys4883Trp)
c.14634T>G (p.Cys4878Trp)
c.14631T>G (p.Cys4877Trp)
c.14616T>G (p.Cys4872Trp)
c.14646T>G (p.Cys4882Trp)
c.14562T>G (p.Cys4854Trp)
19g.38584945T=CA2335094926RYR1c.1585T=
c.2982T=
c.2954T=
n.42T=
c.14649T= (p.Cys4883=)
c.14634T= (p.Cys4878=)
c.14631T= (p.Cys4877=)
c.14616T= (p.Cys4872=)
c.14646T= (p.Cys4882=)
c.14562T= (p.Cys4854=)
19g.38584946T>ACA405690035RYR1c.1586T>A
c.2983T>A
c.2955T>A
n.43T>A
c.14650T>A (p.Tyr4884Asn)
c.14635T>A (p.Tyr4879Asn)
c.14632T>A (p.Tyr4878Asn)
c.14617T>A (p.Tyr4873Asn)
c.14647T>A (p.Tyr4883Asn)
c.14563T>A (p.Tyr4855Asn)
19g.38584946T>CCA405690038RYR1c.1586T>C
c.2983T>C
c.2955T>C
n.43T>C
c.14650T>C (p.Tyr4884His)
c.14635T>C (p.Tyr4879His)
c.14632T>C (p.Tyr4878His)
c.14617T>C (p.Tyr4873His)
c.14647T>C (p.Tyr4883His)
c.14563T>C (p.Tyr4855His)
 ClinVar dbSNP
19g.38584946T>GCA405690041RYR1c.1586T>G
c.2983T>G
c.2955T>G
n.43T>G
c.14650T>G (p.Tyr4884Asp)
c.14635T>G (p.Tyr4879Asp)
c.14632T>G (p.Tyr4878Asp)
c.14617T>G (p.Tyr4873Asp)
c.14647T>G (p.Tyr4883Asp)
c.14563T>G (p.Tyr4855Asp)
19g.38584947A>CCA405690044RYR1c.1587A>C
c.2984A>C
c.2956A>C
n.44A>C
c.14651A>C (p.Tyr4884Ser)
c.14636A>C (p.Tyr4879Ser)
c.14633A>C (p.Tyr4878Ser)
c.14618A>C (p.Tyr4873Ser)
c.14648A>C (p.Tyr4883Ser)
c.14564A>C (p.Tyr4855Ser)
19g.38584947A>GCA405690045RYR1c.1587A>G
c.2984A>G
c.2956A>G
n.44A>G
c.14651A>G (p.Tyr4884Cys)
c.14636A>G (p.Tyr4879Cys)
c.14633A>G (p.Tyr4878Cys)
c.14618A>G (p.Tyr4873Cys)
c.14648A>G (p.Tyr4883Cys)
c.14564A>G (p.Tyr4855Cys)
19g.38584947A>TCA405690049RYR1c.1587A>T
c.2984A>T
c.2956A>T
n.44A>T
c.14651A>T (p.Tyr4884Phe)
c.14636A>T (p.Tyr4879Phe)
c.14633A>T (p.Tyr4878Phe)
c.14618A>T (p.Tyr4873Phe)
c.14648A>T (p.Tyr4883Phe)
c.14564A>T (p.Tyr4855Phe)
19g.38584948C>ACA405690050RYR1c.1588C>A
c.2985C>A
c.2957C>A
n.45C>A
c.14652C>A (p.Tyr4884Ter)
c.14637C>A (p.Tyr4879Ter)
c.14634C>A (p.Tyr4878Ter)
c.14619C>A (p.Tyr4873Ter)
c.14649C>A (p.Tyr4883Ter)
c.14565C>A (p.Tyr4855Ter)
19g.38584948C>GCA405690051RYR1c.1588C>G
c.2985C>G
c.2957C>G
n.45C>G
c.14652C>G (p.Tyr4884Ter)
c.14637C>G (p.Tyr4879Ter)
c.14634C>G (p.Tyr4878Ter)
c.14619C>G (p.Tyr4873Ter)
c.14649C>G (p.Tyr4883Ter)
c.14565C>G (p.Tyr4855Ter)
 gnomAD v4
19g.38584948C>TCA507246300RYR1c.1588C>T
c.2985C>T
c.2957C>T
n.45C>T
c.14652C>T (p.Tyr4884=)
c.14637C>T (p.Tyr4879=)
c.14634C>T (p.Tyr4878=)
c.14619C>T (p.Tyr4873=)
c.14649C>T (p.Tyr4883=)
c.14565C>T (p.Tyr4855=)
 ClinVar gnomAD v4
19g.38584949C>ACA405690053RYR1c.1589C>A
c.2986C>A
c.2958C>A
n.46C>A
c.14653C>A (p.Leu4885Met)
c.14638C>A (p.Leu4880Met)
c.14635C>A (p.Leu4879Met)
c.14620C>A (p.Leu4874Met)
c.14650C>A (p.Leu4884Met)
c.14566C>A (p.Leu4856Met)
19g.38584949C=CA2335094927RYR1c.1589C=
c.2986C=
c.2958C=
n.46C=
c.14653C= (p.Leu4885=)
c.14638C= (p.Leu4880=)
c.14635C= (p.Leu4879=)
c.14620C= (p.Leu4874=)
c.14650C= (p.Leu4884=)
c.14566C= (p.Leu4856=)
19g.38584949C>GCA405690052RYR1c.1589C>G
c.2986C>G
c.2958C>G
n.46C>G
c.14653C>G (p.Leu4885Val)
c.14638C>G (p.Leu4880Val)
c.14635C>G (p.Leu4879Val)
c.14620C>G (p.Leu4874Val)
c.14650C>G (p.Leu4884Val)
c.14566C>G (p.Leu4856Val)
 gnomAD v4
19g.38584949C>TCA061500RYR1c.1589C>T
c.2986C>T
c.2958C>T
n.46C>T
c.14653C>T (p.Leu4885=)
c.14638C>T (p.Leu4880=)
c.14635C>T (p.Leu4879=)
c.14620C>T (p.Leu4874=)
c.14650C>T (p.Leu4884=)
c.14566C>T (p.Leu4856=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38584950T>ACA405690058RYR1c.1590T>A
c.2987T>A
c.2959T>A
n.47T>A
c.14654T>A (p.Leu4885Gln)
c.14639T>A (p.Leu4880Gln)
c.14636T>A (p.Leu4879Gln)
c.14621T>A (p.Leu4874Gln)
c.14651T>A (p.Leu4884Gln)
c.14567T>A (p.Leu4856Gln)
19g.38584950T>CCA405690066RYR1c.1590T>C
c.2987T>C
c.2959T>C
n.47T>C
c.14654T>C (p.Leu4885Pro)
c.14639T>C (p.Leu4880Pro)
c.14636T>C (p.Leu4879Pro)
c.14621T>C (p.Leu4874Pro)
c.14651T>C (p.Leu4884Pro)
c.14567T>C (p.Leu4856Pro)
19g.38584950T>GCA405690070RYR1c.1590T>G
c.2987T>G
c.2959T>G
n.47T>G
c.14654T>G (p.Leu4885Arg)
c.14639T>G (p.Leu4880Arg)
c.14636T>G (p.Leu4879Arg)
c.14621T>G (p.Leu4874Arg)
c.14651T>G (p.Leu4884Arg)
c.14567T>G (p.Leu4856Arg)
19g.38584951G>ACA507246304RYR1c.1591G>A
c.2988G>A
c.2960G>A
n.48G>A
c.14655G>A (p.Leu4885=)
c.14640G>A (p.Leu4880=)
c.14637G>A (p.Leu4879=)
c.14622G>A (p.Leu4874=)
c.14652G>A (p.Leu4884=)
c.14568G>A (p.Leu4856=)
19g.38584951G>CCA507246306RYR1c.1591G>C
c.2988G>C
c.2960G>C
n.48G>C
c.14655G>C (p.Leu4885=)
c.14640G>C (p.Leu4880=)
c.14637G>C (p.Leu4879=)
c.14622G>C (p.Leu4874=)
c.14652G>C (p.Leu4884=)
c.14568G>C (p.Leu4856=)
 COSMIC
19g.38584951G>TCA507246305RYR1c.1591G>T
c.2988G>T
c.2960G>T
n.48G>T
c.14655G>T (p.Leu4885=)
c.14640G>T (p.Leu4880=)
c.14637G>T (p.Leu4879=)
c.14622G>T (p.Leu4874=)
c.14652G>T (p.Leu4884=)
c.14568G>T (p.Leu4856=)
19g.38584952T>ACA405690073RYR1c.1592T>A
c.2989T>A
c.2961T>A
n.49T>A
c.14656T>A (p.Phe4886Ile)
c.14641T>A (p.Phe4881Ile)
c.14638T>A (p.Phe4880Ile)
c.14623T>A (p.Phe4875Ile)
c.14653T>A (p.Phe4885Ile)
c.14569T>A (p.Phe4857Ile)
19g.38584952T>CCA405690076RYR1c.1592T>C
c.2989T>C
c.2961T>C
n.49T>C
c.14656T>C (p.Phe4886Leu)
c.14641T>C (p.Phe4881Leu)
c.14638T>C (p.Phe4880Leu)
c.14623T>C (p.Phe4875Leu)
c.14653T>C (p.Phe4885Leu)
c.14569T>C (p.Phe4857Leu)
19g.38584952T>GCA405690084RYR1c.1592T>G
c.2989T>G
c.2961T>G
n.49T>G
c.14656T>G (p.Phe4886Val)
c.14641T>G (p.Phe4881Val)
c.14638T>G (p.Phe4880Val)
c.14623T>G (p.Phe4875Val)
c.14653T>G (p.Phe4885Val)
c.14569T>G (p.Phe4857Val)
19g.38584953T>ACA405690087RYR1c.1593T>A
c.2990T>A
c.2962T>A
n.50T>A
c.14657T>A (p.Phe4886Tyr)
c.14642T>A (p.Phe4881Tyr)
c.14639T>A (p.Phe4880Tyr)
c.14624T>A (p.Phe4875Tyr)
c.14654T>A (p.Phe4885Tyr)
c.14570T>A (p.Phe4857Tyr)
19g.38584953T>CCA405690091RYR1c.1593T>C
c.2990T>C
c.2962T>C
n.50T>C
c.14657T>C (p.Phe4886Ser)
c.14642T>C (p.Phe4881Ser)
c.14639T>C (p.Phe4880Ser)
c.14624T>C (p.Phe4875Ser)
c.14654T>C (p.Phe4885Ser)
c.14570T>C (p.Phe4857Ser)
19g.38584953T>GCA405690093RYR1c.1593T>G
c.2990T>G
c.2962T>G
n.50T>G
c.14657T>G (p.Phe4886Cys)
c.14642T>G (p.Phe4881Cys)
c.14639T>G (p.Phe4880Cys)
c.14624T>G (p.Phe4875Cys)
c.14654T>G (p.Phe4885Cys)
c.14570T>G (p.Phe4857Cys)
19g.38584954T>ACA405690098RYR1c.1594T>A
c.2991T>A
c.2963T>A
n.51T>A
c.14658T>A (p.Phe4886Leu)
c.14643T>A (p.Phe4881Leu)
c.14640T>A (p.Phe4880Leu)
c.14625T>A (p.Phe4875Leu)
c.14655T>A (p.Phe4885Leu)
c.14571T>A (p.Phe4857Leu)
19g.38584954T>CCA308125432RYR1c.1594T>C
c.2991T>C
c.2963T>C
n.51T>C
c.14658T>C (p.Phe4886=)
c.14643T>C (p.Phe4881=)
c.14640T>C (p.Phe4880=)
c.14625T>C (p.Phe4875=)
c.14655T>C (p.Phe4885=)
c.14571T>C (p.Phe4857=)
 ClinVar dbSNP gnomAD v4
19g.38584954T>GCA405690100RYR1c.1594T>G
c.2991T>G
c.2963T>G
n.51T>G
c.14658T>G (p.Phe4886Leu)
c.14643T>G (p.Phe4881Leu)
c.14640T>G (p.Phe4880Leu)
c.14625T>G (p.Phe4875Leu)
c.14655T>G (p.Phe4885Leu)
c.14571T>G (p.Phe4857Leu)
19g.38584954T=CA2335094928RYR1c.1594T=
c.2991T=
c.2963T=
n.51T=
c.14658T= (p.Phe4886=)
c.14643T= (p.Phe4881=)
c.14640T= (p.Phe4880=)
c.14625T= (p.Phe4875=)
c.14655T= (p.Phe4885=)
c.14571T= (p.Phe4857=)
19g.38584955C>ACA405690105RYR1c.1595C>A
c.2992C>A
c.2964C>A
n.52C>A
c.14659C>A (p.His4887Asn)
c.14644C>A (p.His4882Asn)
c.14641C>A (p.His4881Asn)
c.14626C>A (p.His4876Asn)
c.14656C>A (p.His4886Asn)
c.14572C>A (p.His4858Asn)
19g.38584955C=CA2335094929RYR1c.1595C=
c.2992C=
c.2964C=
n.52C=
c.14659C= (p.His4887=)
c.14644C= (p.His4882=)
c.14641C= (p.His4881=)
c.14626C= (p.His4876=)
c.14656C= (p.His4886=)
c.14572C= (p.His4858=)
19g.38584955C>GCA405690108RYR1c.1595C>G
c.2992C>G
c.2964C>G
n.52C>G
c.14659C>G (p.His4887Asp)
c.14644C>G (p.His4882Asp)
c.14641C>G (p.His4881Asp)
c.14626C>G (p.His4876Asp)
c.14656C>G (p.His4886Asp)
c.14572C>G (p.His4858Asp)
 dbSNP
19g.38584955C>TCA024212RYR1c.1595C>T
c.2992C>T
c.2964C>T
n.52C>T
c.14659C>T (p.His4887Tyr)
c.14644C>T (p.His4882Tyr)
c.14641C>T (p.His4881Tyr)
c.14626C>T (p.His4876Tyr)
c.14656C>T (p.His4886Tyr)
c.14572C>T (p.His4858Tyr)
 ClinVar dbSNP gnomAD v2
19g.38584956A=CA2335094930RYR1c.1596A=
c.2993A=
c.2965A=
n.53A=
c.14660A= (p.His4887=)
c.14645A= (p.His4882=)
c.14642A= (p.His4881=)
c.14627A= (p.His4876=)
c.14657A= (p.His4886=)
c.14573A= (p.His4858=)
19g.38584956A>CCA405690112RYR1c.1596A>C
c.2993A>C
c.2965A>C
n.53A>C
c.14660A>C (p.His4887Pro)
c.14645A>C (p.His4882Pro)
c.14642A>C (p.His4881Pro)
c.14627A>C (p.His4876Pro)
c.14657A>C (p.His4886Pro)
c.14573A>C (p.His4858Pro)
19g.38584956A>GCA405690116RYR1c.1596A>G
c.2993A>G
c.2965A>G
n.53A>G
c.14660A>G (p.His4887Arg)
c.14645A>G (p.His4882Arg)
c.14642A>G (p.His4881Arg)
c.14627A>G (p.His4876Arg)
c.14657A>G (p.His4886Arg)
c.14573A>G (p.His4858Arg)
19g.38584956A>TCA405690118RYR1c.1596A>T
c.2993A>T
c.2965A>T
n.53A>T
c.14660A>T (p.His4887Leu)
c.14645A>T (p.His4882Leu)
c.14642A>T (p.His4881Leu)
c.14627A>T (p.His4876Leu)
c.14657A>T (p.His4886Leu)
c.14573A>T (p.His4858Leu)
 ClinVar dbSNP
19g.38584957C>ACA081274RYR1c.1597C>A
c.2994C>A
c.2966C>A
n.54C>A
c.14661C>A (p.His4887Gln)
c.14646C>A (p.His4882Gln)
c.14643C>A (p.His4881Gln)
c.14628C>A (p.His4876Gln)
c.14658C>A (p.His4886Gln)
c.14574C>A (p.His4858Gln)
19g.38584957C>GCA405690125RYR1c.1597C>G
c.2994C>G
c.2966C>G
n.54C>G
c.14661C>G (p.His4887Gln)
c.14646C>G (p.His4882Gln)
c.14643C>G (p.His4881Gln)
c.14628C>G (p.His4876Gln)
c.14658C>G (p.His4886Gln)
c.14574C>G (p.His4858Gln)
19g.38584957C>TCA081275RYR1c.1597C>T
c.2994C>T
c.2966C>T
n.54C>T
c.14661C>T (p.His4887=)
c.14646C>T (p.His4882=)
c.14643C>T (p.His4881=)
c.14628C>T (p.His4876=)
c.14658C>T (p.His4886=)
c.14574C>T (p.His4858=)
19g.38584958A=CA2335094931RYR1c.1598A=
c.2995A=
c.2967A=
n.55A=
c.14662A= (p.Met4888=)
c.14647A= (p.Met4883=)
c.14644A= (p.Met4882=)
c.14629A= (p.Met4877=)
c.14659A= (p.Met4887=)
c.14575A= (p.Met4859=)
19g.38584958A>CCA405690134RYR1c.1598A>C
c.2995A>C
c.2967A>C
n.55A>C
c.14662A>C (p.Met4888Leu)
c.14647A>C (p.Met4883Leu)
c.14644A>C (p.Met4882Leu)
c.14629A>C (p.Met4877Leu)
c.14659A>C (p.Met4887Leu)
c.14575A>C (p.Met4859Leu)
19g.38584958A>GCA405690133RYR1c.1598A>G
c.2995A>G
c.2967A>G
n.55A>G
c.14662A>G (p.Met4888Val)
c.14647A>G (p.Met4883Val)
c.14644A>G (p.Met4882Val)
c.14629A>G (p.Met4877Val)
c.14659A>G (p.Met4887Val)
c.14575A>G (p.Met4859Val)
 ClinVar dbSNP
19g.38584958A>TCA405690131RYR1c.1598A>T
c.2995A>T
c.2967A>T
n.55A>T
c.14662A>T (p.Met4888Leu)
c.14647A>T (p.Met4883Leu)
c.14644A>T (p.Met4882Leu)
c.14629A>T (p.Met4877Leu)
c.14659A>T (p.Met4887Leu)
c.14575A>T (p.Met4859Leu)
19g.38584959T>ACA405690137RYR1c.1599T>A
c.2996T>A
c.2968T>A
n.56T>A
c.14663T>A (p.Met4888Lys)
c.14648T>A (p.Met4883Lys)
c.14645T>A (p.Met4882Lys)
c.14630T>A (p.Met4877Lys)
c.14660T>A (p.Met4887Lys)
c.14576T>A (p.Met4859Lys)
19g.38584959T>CCA405690140RYR1c.1599T>C
c.2996T>C
c.2968T>C
n.56T>C
c.14663T>C (p.Met4888Thr)
c.14648T>C (p.Met4883Thr)
c.14645T>C (p.Met4882Thr)
c.14630T>C (p.Met4877Thr)
c.14660T>C (p.Met4887Thr)
c.14576T>C (p.Met4859Thr)
19g.38584959T>GCA405690142RYR1c.1599T>G
c.2996T>G
c.2968T>G
n.56T>G
c.14663T>G (p.Met4888Arg)
c.14648T>G (p.Met4883Arg)
c.14645T>G (p.Met4882Arg)
c.14630T>G (p.Met4877Arg)
c.14660T>G (p.Met4887Arg)
c.14576T>G (p.Met4859Arg)
19g.38584960G>ACA405690146RYR1c.1600G>A
c.2997G>A
c.2969G>A
n.57G>A
c.14664G>A (p.Met4888Ile)
c.14649G>A (p.Met4883Ile)
c.14646G>A (p.Met4882Ile)
c.14631G>A (p.Met4877Ile)
c.14661G>A (p.Met4887Ile)
c.14577G>A (p.Met4859Ile)
19g.38584960G>CCA405690151RYR1c.1600G>C
c.2997G>C
c.2969G>C
n.57G>C
c.14664G>C (p.Met4888Ile)
c.14649G>C (p.Met4883Ile)
c.14646G>C (p.Met4882Ile)
c.14631G>C (p.Met4877Ile)
c.14661G>C (p.Met4887Ile)
c.14577G>C (p.Met4859Ile)
19g.38584960G>TCA405690153RYR1c.1600G>T
c.2997G>T
c.2969G>T
n.57G>T
c.14664G>T (p.Met4888Ile)
c.14649G>T (p.Met4883Ile)
c.14646G>T (p.Met4882Ile)
c.14631G>T (p.Met4877Ile)
c.14661G>T (p.Met4887Ile)
c.14577G>T (p.Met4859Ile)
19g.38584961T>ACA405690167RYR1c.1601T>A
c.2998T>A
c.2970T>A
n.58T>A
c.14665T>A (p.Tyr4889Asn)
c.14650T>A (p.Tyr4884Asn)
c.14647T>A (p.Tyr4883Asn)
c.14632T>A (p.Tyr4878Asn)
c.14662T>A (p.Tyr4888Asn)
c.14578T>A (p.Tyr4860Asn)
19g.38584961T>CCA405690173RYR1c.1601T>C
c.2998T>C
c.2970T>C
n.58T>C
c.14665T>C (p.Tyr4889His)
c.14650T>C (p.Tyr4884His)
c.14647T>C (p.Tyr4883His)
c.14632T>C (p.Tyr4878His)
c.14662T>C (p.Tyr4888His)
c.14578T>C (p.Tyr4860His)
19g.38584961T>GCA405690171RYR1c.1601T>G
c.2998T>G
c.2970T>G
n.58T>G
c.14665T>G (p.Tyr4889Asp)
c.14650T>G (p.Tyr4884Asp)
c.14647T>G (p.Tyr4883Asp)
c.14632T>G (p.Tyr4878Asp)
c.14662T>G (p.Tyr4888Asp)
c.14578T>G (p.Tyr4860Asp)
19g.38584962A>CCA405690179RYR1c.1602A>C
c.2999A>C
c.2971A>C
n.59A>C
c.14666A>C (p.Tyr4889Ser)
c.14651A>C (p.Tyr4884Ser)
c.14648A>C (p.Tyr4883Ser)
c.14633A>C (p.Tyr4878Ser)
c.14663A>C (p.Tyr4888Ser)
c.14579A>C (p.Tyr4860Ser)
19g.38584962A>GCA405690182RYR1c.1602A>G
c.2999A>G
c.2971A>G
n.59A>G
c.14666A>G (p.Tyr4889Cys)
c.14651A>G (p.Tyr4884Cys)
c.14648A>G (p.Tyr4883Cys)
c.14633A>G (p.Tyr4878Cys)
c.14663A>G (p.Tyr4888Cys)
c.14579A>G (p.Tyr4860Cys)
19g.38584962A>TCA405690184RYR1c.1602A>T
c.2999A>T
c.2971A>T
n.59A>T
c.14666A>T (p.Tyr4889Phe)
c.14651A>T (p.Tyr4884Phe)
c.14648A>T (p.Tyr4883Phe)
c.14633A>T (p.Tyr4878Phe)
c.14663A>T (p.Tyr4888Phe)
c.14579A>T (p.Tyr4860Phe)
19g.38584963C>ACA405690192RYR1c.1603C>A
c.3000C>A
c.2972C>A
n.60C>A
c.14667C>A (p.Tyr4889Ter)
c.14652C>A (p.Tyr4884Ter)
c.14649C>A (p.Tyr4883Ter)
c.14634C>A (p.Tyr4878Ter)
c.14664C>A (p.Tyr4888Ter)
c.14580C>A (p.Tyr4860Ter)
 ClinVar dbSNP gnomAD v4
19g.38584963C=CA2335094932RYR1c.1603C=
c.3000C=
c.2972C=
n.60C=
c.14667C= (p.Tyr4889=)
c.14652C= (p.Tyr4884=)
c.14649C= (p.Tyr4883=)
c.14634C= (p.Tyr4878=)
c.14664C= (p.Tyr4888=)
c.14580C= (p.Tyr4860=)
19g.38584963C>GCA024213RYR1c.1603C>G
c.3000C>G
c.2972C>G
n.60C>G
c.14667C>G (p.Tyr4889Ter)
c.14652C>G (p.Tyr4884Ter)
c.14649C>G (p.Tyr4883Ter)
c.14634C>G (p.Tyr4878Ter)
c.14664C>G (p.Tyr4888Ter)
c.14580C>G (p.Tyr4860Ter)
 ClinVar dbSNP
19g.38584963C>TCA061506RYR1c.1603C>T
c.3000C>T
c.2972C>T
n.60C>T
c.14667C>T (p.Tyr4889=)
c.14652C>T (p.Tyr4884=)
c.14649C>T (p.Tyr4883=)
c.14634C>T (p.Tyr4878=)
c.14664C>T (p.Tyr4888=)
c.14580C>T (p.Tyr4860=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38584964G>ACA405690210RYR1c.1604G>A
c.3001G>A
c.2973G>A
n.61G>A
c.14668G>A (p.Val4890Met)
c.14653G>A (p.Val4885Met)
c.14650G>A (p.Val4884Met)
c.14635G>A (p.Val4879Met)
c.14665G>A (p.Val4889Met)
c.14581G>A (p.Val4861Met)
 ClinVar dbSNP gnomAD v4
19g.38584964G>CCA405690211RYR1c.1604G>C
c.3001G>C
c.2973G>C
n.61G>C
c.14668G>C (p.Val4890Leu)
c.14653G>C (p.Val4885Leu)
c.14650G>C (p.Val4884Leu)
c.14635G>C (p.Val4879Leu)
c.14665G>C (p.Val4889Leu)
c.14581G>C (p.Val4861Leu)
19g.38584964G=CA2335094933RYR1c.1604G=
c.3001G=
c.2973G=
n.61G=
c.14668G= (p.Val4890=)
c.14653G= (p.Val4885=)
c.14650G= (p.Val4884=)
c.14635G= (p.Val4879=)
c.14665G= (p.Val4889=)
c.14581G= (p.Val4861=)
19g.38584964G>TCA405690212RYR1c.1604G>T
c.3001G>T
c.2973G>T
n.61G>T
c.14668G>T (p.Val4890Leu)
c.14653G>T (p.Val4885Leu)
c.14650G>T (p.Val4884Leu)
c.14635G>T (p.Val4879Leu)
c.14665G>T (p.Val4889Leu)
c.14581G>T (p.Val4861Leu)
19g.38584965T>ACA405690213RYR1c.1605T>A
c.3002T>A
c.2974T>A
n.62T>A
c.14669T>A (p.Val4890Glu)
c.14654T>A (p.Val4885Glu)
c.14651T>A (p.Val4884Glu)
c.14636T>A (p.Val4879Glu)
c.14666T>A (p.Val4889Glu)
c.14582T>A (p.Val4861Glu)
19g.38584965T>CCA405690215RYR1c.1605T>C
c.3002T>C
c.2974T>C
n.62T>C
c.14669T>C (p.Val4890Ala)
c.14654T>C (p.Val4885Ala)
c.14651T>C (p.Val4884Ala)
c.14636T>C (p.Val4879Ala)
c.14666T>C (p.Val4889Ala)
c.14582T>C (p.Val4861Ala)
19g.38584965T>GCA405690218RYR1c.1605T>G
c.3002T>G
c.2974T>G
n.62T>G
c.14669T>G (p.Val4890Gly)
c.14654T>G (p.Val4885Gly)
c.14651T>G (p.Val4884Gly)
c.14636T>G (p.Val4879Gly)
c.14666T>G (p.Val4889Gly)
c.14582T>G (p.Val4861Gly)
19g.38584966G>ACA507246313RYR1c.1606G>A
c.3003G>A
c.2975G>A
n.63G>A
c.14670G>A (p.Val4890=)
c.14655G>A (p.Val4885=)
c.14652G>A (p.Val4884=)
c.14637G>A (p.Val4879=)
c.14667G>A (p.Val4889=)
c.14583G>A (p.Val4861=)
19g.38584966G>CCA061510RYR1c.1606G>C
c.3003G>C
c.2975G>C
n.63G>C
c.14670G>C (p.Val4890=)
c.14655G>C (p.Val4885=)
c.14652G>C (p.Val4884=)
c.14637G>C (p.Val4879=)
c.14667G>C (p.Val4889=)
c.14583G>C (p.Val4861=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38584966G=CA2335094934RYR1c.1606G=
c.3003G=
c.2975G=
n.63G=
c.14670G= (p.Val4890=)
c.14655G= (p.Val4885=)
c.14652G= (p.Val4884=)
c.14637G= (p.Val4879=)
c.14667G= (p.Val4889=)
c.14583G= (p.Val4861=)
19g.38584966G>TCA507246314RYR1c.1606G>T
c.3003G>T
c.2975G>T
n.63G>T
c.14670G>T (p.Val4890=)
c.14655G>T (p.Val4885=)
c.14652G>T (p.Val4884=)
c.14637G>T (p.Val4879=)
c.14667G>T (p.Val4889=)
c.14583G>T (p.Val4861=)
 COSMIC
19g.38584967G>ACA405690221RYR1c.1607G>A
c.3004G>A
c.2976G>A
n.64G>A
c.14671G>A (p.Gly4891Ser)
c.14656G>A (p.Gly4886Ser)
c.14653G>A (p.Gly4885Ser)
c.14638G>A (p.Gly4880Ser)
c.14668G>A (p.Gly4890Ser)
c.14584G>A (p.Gly4862Ser)
19g.38584967G>CCA024215RYR1c.1607G>C
c.3004G>C
c.2976G>C
n.64G>C
c.14671G>C (p.Gly4891Arg)
c.14656G>C (p.Gly4886Arg)
c.14653G>C (p.Gly4885Arg)
c.14638G>C (p.Gly4880Arg)
c.14668G>C (p.Gly4890Arg)
c.14584G>C (p.Gly4862Arg)
 ClinVar dbSNP
19g.38584967G=CA2335094935RYR1c.1607G=
c.3004G=
c.2976G=
n.64G=
c.14671G= (p.Gly4891=)
c.14656G= (p.Gly4886=)
c.14653G= (p.Gly4885=)
c.14638G= (p.Gly4880=)
c.14668G= (p.Gly4890=)
c.14584G= (p.Gly4862=)
19g.38584967G>TCA405690223RYR1c.1607G>T
c.3004G>T
c.2976G>T
n.64G>T
c.14671G>T (p.Gly4891Cys)
c.14656G>T (p.Gly4886Cys)
c.14653G>T (p.Gly4885Cys)
c.14638G>T (p.Gly4880Cys)
c.14668G>T (p.Gly4890Cys)
c.14584G>T (p.Gly4862Cys)
19g.38584968G>ACA024218RYR1c.1608G>A
c.3005G>A
c.2977G>A
n.65G>A
c.14672G>A (p.Gly4891Asp)
c.14657G>A (p.Gly4886Asp)
c.14654G>A (p.Gly4885Asp)
c.14639G>A (p.Gly4880Asp)
c.14669G>A (p.Gly4890Asp)
c.14585G>A (p.Gly4862Asp)
 ClinVar dbSNP
19g.38584968G>CCA405690230RYR1c.1608G>C
c.3005G>C
c.2977G>C
n.65G>C
c.14672G>C (p.Gly4891Ala)
c.14657G>C (p.Gly4886Ala)
c.14654G>C (p.Gly4885Ala)
c.14639G>C (p.Gly4880Ala)
c.14669G>C (p.Gly4890Ala)
c.14585G>C (p.Gly4862Ala)
19g.38584968G=CA2335094936RYR1c.1608G=
c.3005G=
c.2977G=
n.65G=
c.14672G= (p.Gly4891=)
c.14657G= (p.Gly4886=)
c.14654G= (p.Gly4885=)
c.14639G= (p.Gly4880=)
c.14669G= (p.Gly4890=)
c.14585G= (p.Gly4862=)
19g.38584968G>TCA405690233RYR1c.1608G>T
c.3005G>T
c.2977G>T
n.65G>T
c.14672G>T (p.Gly4891Val)
c.14657G>T (p.Gly4886Val)
c.14654G>T (p.Gly4885Val)
c.14639G>T (p.Gly4880Val)
c.14669G>T (p.Gly4890Val)
c.14585G>T (p.Gly4862Val)
19g.38584969T>ACA507246316RYR1c.1609T>A
c.3006T>A
c.2978T>A
n.66T>A
c.14673T>A (p.Gly4891=)
c.14658T>A (p.Gly4886=)
c.14655T>A (p.Gly4885=)
c.14640T>A (p.Gly4880=)
c.14670T>A (p.Gly4890=)
c.14586T>A (p.Gly4862=)
19g.38584969T>CCA507246317RYR1c.1609T>C
c.3006T>C
c.2978T>C
n.66T>C
c.14673T>C (p.Gly4891=)
c.14658T>C (p.Gly4886=)
c.14655T>C (p.Gly4885=)
c.14640T>C (p.Gly4880=)
c.14670T>C (p.Gly4890=)
c.14586T>C (p.Gly4862=)
19g.38584969T>GCA507246318RYR1c.1609T>G
c.3006T>G
c.2978T>G
n.66T>G
c.14673T>G (p.Gly4891=)
c.14658T>G (p.Gly4886=)
c.14655T>G (p.Gly4885=)
c.14640T>G (p.Gly4880=)
c.14670T>G (p.Gly4890=)
c.14586T>G (p.Gly4862=)
 dbSNP
19g.38584969T=CA2335094937RYR1c.1609T=
c.3006T=
c.2978T=
n.66T=
c.14673T= (p.Gly4891=)
c.14658T= (p.Gly4886=)
c.14655T= (p.Gly4885=)
c.14640T= (p.Gly4880=)
c.14670T= (p.Gly4890=)
c.14586T= (p.Gly4862=)
19g.38584970G>ACA405690237RYR1c.1610G>A
c.3007G>A
c.2979G>A
n.67G>A
c.14674G>A (p.Val4892Ile)
c.14659G>A (p.Val4887Ile)
c.14656G>A (p.Val4886Ile)
c.14641G>A (p.Val4881Ile)
c.14671G>A (p.Val4891Ile)
c.14587G>A (p.Val4863Ile)
19g.38584970G>CCA405690239RYR1c.1610G>C
c.3007G>C
c.2979G>C
n.67G>C
c.14674G>C (p.Val4892Leu)
c.14659G>C (p.Val4887Leu)
c.14656G>C (p.Val4886Leu)
c.14641G>C (p.Val4881Leu)
c.14671G>C (p.Val4891Leu)
c.14587G>C (p.Val4863Leu)
19g.38584970G>TCA405690242RYR1c.1610G>T
c.3007G>T
c.2979G>T
n.67G>T
c.14674G>T (p.Val4892Phe)
c.14659G>T (p.Val4887Phe)
c.14656G>T (p.Val4886Phe)
c.14641G>T (p.Val4881Phe)
c.14671G>T (p.Val4891Phe)
c.14587G>T (p.Val4863Phe)
19g.38584971T>ACA405690245RYR1c.1611T>A
c.3008T>A
c.2980T>A
n.68T>A
c.14675T>A (p.Val4892Asp)
c.14660T>A (p.Val4887Asp)
c.14657T>A (p.Val4886Asp)
c.14642T>A (p.Val4881Asp)
c.14672T>A (p.Val4891Asp)
c.14588T>A (p.Val4863Asp)
19g.38584971T>CCA405690243RYR1c.1611T>C
c.3008T>C
c.2980T>C
n.68T>C
c.14675T>C (p.Val4892Ala)
c.14660T>C (p.Val4887Ala)
c.14657T>C (p.Val4886Ala)
c.14642T>C (p.Val4881Ala)
c.14672T>C (p.Val4891Ala)
c.14588T>C (p.Val4863Ala)
19g.38584971T>GCA405690244RYR1c.1611T>G
c.3008T>G
c.2980T>G
n.68T>G
c.14675T>G (p.Val4892Gly)
c.14660T>G (p.Val4887Gly)
c.14657T>G (p.Val4886Gly)
c.14642T>G (p.Val4881Gly)
c.14672T>G (p.Val4891Gly)
c.14588T>G (p.Val4863Gly)
19g.38584972C>ACA507246320RYR1c.1612C>A
c.3009C>A
c.2981C>A
n.69C>A
c.14676C>A (p.Val4892=)
c.14661C>A (p.Val4887=)
c.14658C>A (p.Val4886=)
c.14643C>A (p.Val4881=)
c.14673C>A (p.Val4891=)
c.14589C>A (p.Val4863=)
19g.38584972C>GCA507246321RYR1c.1612C>G
c.3009C>G
c.2981C>G
n.69C>G
c.14676C>G (p.Val4892=)
c.14661C>G (p.Val4887=)
c.14658C>G (p.Val4886=)
c.14643C>G (p.Val4881=)
c.14673C>G (p.Val4891=)
c.14589C>G (p.Val4863=)
19g.38584972C>TCA507246322RYR1c.1612C>T
c.3009C>T
c.2981C>T
n.69C>T
c.14676C>T (p.Val4892=)
c.14661C>T (p.Val4887=)
c.14658C>T (p.Val4886=)
c.14643C>T (p.Val4881=)
c.14673C>T (p.Val4891=)
c.14589C>T (p.Val4863=)
19g.38584973C>ACA507246323RYR1c.1613C>A
c.3010C>A
c.2982C>A
n.70C>A
c.14677C>A (p.Arg4893=)
c.14662C>A (p.Arg4888=)
c.14659C>A (p.Arg4887=)
c.14644C>A (p.Arg4882=)
c.14674C>A (p.Arg4892=)
c.14590C>A (p.Arg4864=)
19g.38584973C=CA2335094938RYR1c.1613C=
c.3010C=
c.2982C=
n.70C=
c.14677C= (p.Arg4893=)
c.14662C= (p.Arg4888=)
c.14659C= (p.Arg4887=)
c.14644C= (p.Arg4882=)
c.14674C= (p.Arg4892=)
c.14590C= (p.Arg4864=)
19g.38584973C>GCA308125459RYR1c.1613C>G
c.3010C>G
c.2982C>G
n.70C>G
c.14677C>G (p.Arg4893Gly)
c.14662C>G (p.Arg4888Gly)
c.14659C>G (p.Arg4887Gly)
c.14644C>G (p.Arg4882Gly)
c.14674C>G (p.Arg4892Gly)
c.14590C>G (p.Arg4864Gly)
 dbSNP
19g.38584973C>TCA024220RYR1c.1613C>T
c.3010C>T
c.2982C>T
n.70C>T
c.14677C>T (p.Arg4893Trp)
c.14662C>T (p.Arg4888Trp)
c.14659C>T (p.Arg4887Trp)
c.14644C>T (p.Arg4882Trp)
c.14674C>T (p.Arg4892Trp)
c.14590C>T (p.Arg4864Trp)
 ClinVar dbSNP gnomAD v4
19g.38584974G>ACA024221RYR1c.1614G>A
c.3011G>A
c.2983G>A
n.71G>A
c.14678G>A (p.Arg4893Gln)
c.14663G>A (p.Arg4888Gln)
c.14660G>A (p.Arg4887Gln)
c.14645G>A (p.Arg4882Gln)
c.14675G>A (p.Arg4892Gln)
c.14591G>A (p.Arg4864Gln)
 ClinVar dbSNP
19g.38584974G>CCA024223RYR1c.1614G>C
c.3011G>C
c.2983G>C
n.71G>C
c.14678G>C (p.Arg4893Pro)
c.14663G>C (p.Arg4888Pro)
c.14660G>C (p.Arg4887Pro)
c.14645G>C (p.Arg4882Pro)
c.14675G>C (p.Arg4892Pro)
c.14591G>C (p.Arg4864Pro)
 ClinVar dbSNP
19g.38584974G=CA2335094939RYR1c.1614G=
c.3011G=
c.2983G=
n.71G=
c.14678G= (p.Arg4893=)
c.14663G= (p.Arg4888=)
c.14660G= (p.Arg4887=)
c.14645G= (p.Arg4882=)
c.14675G= (p.Arg4892=)
c.14591G= (p.Arg4864=)
19g.38584974G>TCA405690254RYR1c.1614G>T
c.3011G>T
c.2983G>T
n.71G>T
c.14678G>T (p.Arg4893Leu)
c.14663G>T (p.Arg4888Leu)
c.14660G>T (p.Arg4887Leu)
c.14645G>T (p.Arg4882Leu)
c.14675G>T (p.Arg4892Leu)
c.14591G>T (p.Arg4864Leu)
 ClinVar gnomAD v4
19g.38584975G>ACA507246325RYR1c.1615G>A
c.3012G>A
c.2984G>A
n.72G>A
c.14679G>A (p.Arg4893=)
c.14664G>A (p.Arg4888=)
c.14661G>A (p.Arg4887=)
c.14646G>A (p.Arg4882=)
c.14676G>A (p.Arg4892=)
c.14592G>A (p.Arg4864=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38584975G>CCA507246326RYR1c.1615G>C
c.3012G>C
c.2984G>C
n.72G>C
c.14679G>C (p.Arg4893=)
c.14664G>C (p.Arg4888=)
c.14661G>C (p.Arg4887=)
c.14646G>C (p.Arg4882=)
c.14676G>C (p.Arg4892=)
c.14592G>C (p.Arg4864=)
19g.38584975G=CA2335094940RYR1c.1615G=
c.3012G=
c.2984G=
n.72G=
c.14679G= (p.Arg4893=)
c.14664G= (p.Arg4888=)
c.14661G= (p.Arg4887=)
c.14646G= (p.Arg4882=)
c.14676G= (p.Arg4892=)
c.14592G= (p.Arg4864=)
19g.38584975G>TCA507246328RYR1c.1615G>T
c.3012G>T
c.2984G>T
n.72G>T
c.14679G>T (p.Arg4893=)
c.14664G>T (p.Arg4888=)
c.14661G>T (p.Arg4887=)
c.14646G>T (p.Arg4882=)
c.14676G>T (p.Arg4892=)
c.14592G>T (p.Arg4864=)
19g.38584976G>ACA024225RYR1c.1616G>A
c.3013G>A
c.2985G>A
n.73G>A
c.14680G>A (p.Ala4894Thr)
c.14665G>A (p.Ala4889Thr)
c.14662G>A (p.Ala4888Thr)
c.14647G>A (p.Ala4883Thr)
c.14677G>A (p.Ala4893Thr)
c.14593G>A (p.Ala4865Thr)
 ClinVar dbSNP
19g.38584976G>CCA024227RYR1c.1616G>C
c.3013G>C
c.2985G>C
n.73G>C
c.14680G>C (p.Ala4894Pro)
c.14665G>C (p.Ala4889Pro)
c.14662G>C (p.Ala4888Pro)
c.14647G>C (p.Ala4883Pro)
c.14677G>C (p.Ala4893Pro)
c.14593G>C (p.Ala4865Pro)
 ClinVar dbSNP
19g.38584976G=CA2335094941RYR1c.1616G=
c.3013G=
c.2985G=
n.73G=
c.14680G= (p.Ala4894=)
c.14665G= (p.Ala4889=)
c.14662G= (p.Ala4888=)
c.14647G= (p.Ala4883=)
c.14677G= (p.Ala4893=)
c.14593G= (p.Ala4865=)
19g.38584976G>TCA405690256RYR1c.1616G>T
c.3013G>T
c.2985G>T
n.73G>T
c.14680G>T (p.Ala4894Ser)
c.14665G>T (p.Ala4889Ser)
c.14662G>T (p.Ala4888Ser)
c.14647G>T (p.Ala4883Ser)
c.14677G>T (p.Ala4893Ser)
c.14593G>T (p.Ala4865Ser)
19g.38584977C>ACA405690259RYR1c.1617C>A
c.3014C>A
c.2986C>A
n.74C>A
c.14681C>A (p.Ala4894Asp)
c.14666C>A (p.Ala4889Asp)
c.14663C>A (p.Ala4888Asp)
c.14648C>A (p.Ala4883Asp)
c.14678C>A (p.Ala4893Asp)
c.14594C>A (p.Ala4865Asp)
 ClinVar dbSNP
19g.38584977C=CA2335094942RYR1c.1617C=
c.3014C=
c.2986C=
n.74C=
c.14681C= (p.Ala4894=)
c.14666C= (p.Ala4889=)
c.14663C= (p.Ala4888=)
c.14648C= (p.Ala4883=)
c.14678C= (p.Ala4893=)
c.14594C= (p.Ala4865=)
19g.38584977C>GCA405690261RYR1c.1617C>G
c.3014C>G
c.2986C>G
n.74C>G
c.14681C>G (p.Ala4894Gly)
c.14666C>G (p.Ala4889Gly)
c.14663C>G (p.Ala4888Gly)
c.14648C>G (p.Ala4883Gly)
c.14678C>G (p.Ala4893Gly)
c.14594C>G (p.Ala4865Gly)
19g.38584977C>TCA024229RYR1c.1617C>T
c.3014C>T
c.2986C>T
n.74C>T
c.14681C>T (p.Ala4894Val)
c.14666C>T (p.Ala4889Val)
c.14663C>T (p.Ala4888Val)
c.14648C>T (p.Ala4883Val)
c.14678C>T (p.Ala4893Val)
c.14594C>T (p.Ala4865Val)
 ClinVar dbSNP
19g.38584978T>ACA507246330RYR1c.1618T>A
c.3015T>A
c.2987T>A
n.75T>A
c.14682T>A (p.Ala4894=)
c.14667T>A (p.Ala4889=)
c.14664T>A (p.Ala4888=)
c.14649T>A (p.Ala4883=)
c.14679T>A (p.Ala4893=)
c.14595T>A (p.Ala4865=)
19g.38584978T>CCA507246332RYR1c.1618T>C
c.3015T>C
c.2987T>C
n.75T>C
c.14682T>C (p.Ala4894=)
c.14667T>C (p.Ala4889=)
c.14664T>C (p.Ala4888=)
c.14649T>C (p.Ala4883=)
c.14679T>C (p.Ala4893=)
c.14595T>C (p.Ala4865=)
 dbSNP gnomAD v2 gnomAD v4
19g.38584978T>GCA507246333RYR1c.1618T>G
c.3015T>G
c.2987T>G
n.75T>G
c.14682T>G (p.Ala4894=)
c.14667T>G (p.Ala4889=)
c.14664T>G (p.Ala4888=)
c.14649T>G (p.Ala4883=)
c.14679T>G (p.Ala4893=)
c.14595T>G (p.Ala4865=)
19g.38584978T=CA2335094943RYR1c.1618T=
c.3015T=
c.2987T=
n.75T=
c.14682T= (p.Ala4894=)
c.14667T= (p.Ala4889=)
c.14664T= (p.Ala4888=)
c.14649T= (p.Ala4883=)
c.14679T= (p.Ala4893=)
c.14595T= (p.Ala4865=)
19g.38584979G>ACA405690265RYR1c.1619G>A
c.3016G>A
c.2988G>A
n.76G>A
c.14683G>A (p.Gly4895Ser)
c.14668G>A (p.Gly4890Ser)
c.14665G>A (p.Gly4889Ser)
c.14650G>A (p.Gly4884Ser)
c.14680G>A (p.Gly4894Ser)
c.14596G>A (p.Gly4866Ser)
19g.38584979G>CCA405690266RYR1c.1619G>C
c.3016G>C
c.2988G>C
n.76G>C
c.14683G>C (p.Gly4895Arg)
c.14668G>C (p.Gly4890Arg)
c.14665G>C (p.Gly4889Arg)
c.14650G>C (p.Gly4884Arg)
c.14680G>C (p.Gly4894Arg)
c.14596G>C (p.Gly4866Arg)
19g.38584979G>TCA405690267RYR1c.1619G>T
c.3016G>T
c.2988G>T
n.76G>T
c.14683G>T (p.Gly4895Cys)
c.14668G>T (p.Gly4890Cys)
c.14665G>T (p.Gly4889Cys)
c.14650G>T (p.Gly4884Cys)
c.14680G>T (p.Gly4894Cys)
c.14596G>T (p.Gly4866Cys)
19g.38584980G>ACA405690268RYR1c.1620G>A
c.3017G>A
c.2989G>A
n.77G>A
c.14684G>A (p.Gly4895Asp)
c.14669G>A (p.Gly4890Asp)
c.14666G>A (p.Gly4889Asp)
c.14651G>A (p.Gly4884Asp)
c.14681G>A (p.Gly4894Asp)
c.14597G>A (p.Gly4866Asp)
 COSMIC
19g.38584980G>CCA405690269RYR1c.1620G>C
c.3017G>C
c.2989G>C
n.77G>C
c.14684G>C (p.Gly4895Ala)
c.14669G>C (p.Gly4890Ala)
c.14666G>C (p.Gly4889Ala)
c.14651G>C (p.Gly4884Ala)
c.14681G>C (p.Gly4894Ala)
c.14597G>C (p.Gly4866Ala)
19g.38584980G=CA2335094944RYR1c.1620G=
c.3017G=
c.2989G=
n.77G=
c.14684G= (p.Gly4895=)
c.14669G= (p.Gly4890=)
c.14666G= (p.Gly4889=)
c.14651G= (p.Gly4884=)
c.14681G= (p.Gly4894=)
c.14597G= (p.Gly4866=)
19g.38584980G>TCA405690270RYR1c.1620G>T
c.3017G>T
c.2989G>T
n.77G>T
c.14684G>T (p.Gly4895Val)
c.14669G>T (p.Gly4890Val)
c.14666G>T (p.Gly4889Val)
c.14651G>T (p.Gly4884Val)
c.14681G>T (p.Gly4894Val)
c.14597G>T (p.Gly4866Val)
 ClinVar dbSNP
19g.38584981C>ACA507246335RYR1c.1621C>A
c.3018C>A
c.2990C>A
n.78C>A
c.14685C>A (p.Gly4895=)
c.14670C>A (p.Gly4890=)
c.14667C>A (p.Gly4889=)
c.14652C>A (p.Gly4884=)
c.14682C>A (p.Gly4894=)
c.14598C>A (p.Gly4866=)
19g.38584981C=CA2335094945RYR1c.1621C=
c.3018C=
c.2990C=
n.78C=
c.14685C= (p.Gly4895=)
c.14670C= (p.Gly4890=)
c.14667C= (p.Gly4889=)
c.14652C= (p.Gly4884=)
c.14682C= (p.Gly4894=)
c.14598C= (p.Gly4866=)
19g.38584981C>GCA507246336RYR1c.1621C>G
c.3018C>G
c.2990C>G
n.78C>G
c.14685C>G (p.Gly4895=)
c.14670C>G (p.Gly4890=)
c.14667C>G (p.Gly4889=)
c.14652C>G (p.Gly4884=)
c.14682C>G (p.Gly4894=)
c.14598C>G (p.Gly4866=)
19g.38584981C>TCA061513RYR1c.1621C>T
c.3018C>T
c.2990C>T
n.78C>T
c.14685C>T (p.Gly4895=)
c.14670C>T (p.Gly4890=)
c.14667C>T (p.Gly4889=)
c.14652C>T (p.Gly4884=)
c.14682C>T (p.Gly4894=)
c.14598C>T (p.Gly4866=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38584982G>ACA405690275RYR1c.1622G>A
c.3019G>A
c.2991G>A
n.79G>A
c.14686G>A (p.Gly4896Arg)
c.14671G>A (p.Gly4891Arg)
c.14668G>A (p.Gly4890Arg)
c.14653G>A (p.Gly4885Arg)
c.14683G>A (p.Gly4895Arg)
c.14599G>A (p.Gly4867Arg)
 ClinVar dbSNP gnomAD v4 COSMIC
19g.38584982G>CCA405690279RYR1c.1622G>C
c.3019G>C
c.2991G>C
n.79G>C
c.14686G>C (p.Gly4896Arg)
c.14671G>C (p.Gly4891Arg)
c.14668G>C (p.Gly4890Arg)
c.14653G>C (p.Gly4885Arg)
c.14683G>C (p.Gly4895Arg)
c.14599G>C (p.Gly4867Arg)
19g.38584982G=CA2335094946RYR1c.1622G=
c.3019G=
c.2991G=
n.79G=
c.14686G= (p.Gly4896=)
c.14671G= (p.Gly4891=)
c.14668G= (p.Gly4890=)
c.14653G= (p.Gly4885=)
c.14683G= (p.Gly4895=)
c.14599G= (p.Gly4867=)
19g.38584982G>TCA405690281RYR1c.1622G>T
c.3019G>T
c.2991G>T
n.79G>T
c.14686G>T (p.Gly4896Ter)
c.14671G>T (p.Gly4891Ter)
c.14668G>T (p.Gly4890Ter)
c.14653G>T (p.Gly4885Ter)
c.14683G>T (p.Gly4895Ter)
c.14599G>T (p.Gly4867Ter)
19g.38584983G>ACA405690282RYR1c.1623G>A
c.3020G>A
c.2992G>A
n.80G>A
c.14687G>A (p.Gly4896Glu)
c.14672G>A (p.Gly4891Glu)
c.14669G>A (p.Gly4890Glu)
c.14654G>A (p.Gly4885Glu)
c.14684G>A (p.Gly4895Glu)
c.14600G>A (p.Gly4867Glu)
 ClinVar dbSNP
19g.38584983G>CCA405690286RYR1c.1623G>C
c.3020G>C
c.2992G>C
n.80G>C
c.14687G>C (p.Gly4896Ala)
c.14672G>C (p.Gly4891Ala)
c.14669G>C (p.Gly4890Ala)
c.14654G>C (p.Gly4885Ala)
c.14684G>C (p.Gly4895Ala)
c.14600G>C (p.Gly4867Ala)
19g.38584983G=CA2335094947RYR1c.1623G=
c.3020G=
c.2992G=
n.80G=
c.14687G= (p.Gly4896=)
c.14672G= (p.Gly4891=)
c.14669G= (p.Gly4890=)
c.14654G= (p.Gly4885=)
c.14684G= (p.Gly4895=)
c.14600G= (p.Gly4867=)
19g.38584983G>TCA405690284RYR1c.1623G>T
c.3020G>T
c.2992G>T
n.80G>T
c.14687G>T (p.Gly4896Val)
c.14672G>T (p.Gly4891Val)
c.14669G>T (p.Gly4890Val)
c.14654G>T (p.Gly4885Val)
c.14684G>T (p.Gly4895Val)
c.14600G>T (p.Gly4867Val)
19g.38584984A>CCA507246338RYR1c.1624A>C
c.3021A>C
c.2993A>C
n.81A>C
c.14688A>C (p.Gly4896=)
c.14673A>C (p.Gly4891=)
c.14670A>C (p.Gly4890=)
c.14655A>C (p.Gly4885=)
c.14685A>C (p.Gly4895=)
c.14601A>C (p.Gly4867=)
19g.38584984A>GCA507246339RYR1c.1624A>G
c.3021A>G
c.2993A>G
n.81A>G
c.14688A>G (p.Gly4896=)
c.14673A>G (p.Gly4891=)
c.14670A>G (p.Gly4890=)
c.14655A>G (p.Gly4885=)
c.14685A>G (p.Gly4895=)
c.14601A>G (p.Gly4867=)
19g.38584984A>TCA507246340RYR1c.1624A>T
c.3021A>T
c.2993A>T
n.81A>T
c.14688A>T (p.Gly4896=)
c.14673A>T (p.Gly4891=)
c.14670A>T (p.Gly4890=)
c.14655A>T (p.Gly4885=)
c.14685A>T (p.Gly4895=)
c.14601A>T (p.Gly4867=)
19g.38584985G>ACA405690288RYR1c.1625G>A
c.3022G>A
c.2994G>A
n.82G>A
c.14689G>A (p.Gly4897Ser)
c.14674G>A (p.Gly4892Ser)
c.14671G>A (p.Gly4891Ser)
c.14656G>A (p.Gly4886Ser)
c.14686G>A (p.Gly4896Ser)
c.14602G>A (p.Gly4868Ser)
19g.38584985G>CCA405690289RYR1c.1625G>C
c.3022G>C
c.2994G>C
n.82G>C
c.14689G>C (p.Gly4897Arg)
c.14674G>C (p.Gly4892Arg)
c.14671G>C (p.Gly4891Arg)
c.14656G>C (p.Gly4886Arg)
c.14686G>C (p.Gly4896Arg)
c.14602G>C (p.Gly4868Arg)
19g.38584985G>TCA405690290RYR1c.1625G>T
c.3022G>T
c.2994G>T
n.82G>T
c.14689G>T (p.Gly4897Cys)
c.14674G>T (p.Gly4892Cys)
c.14671G>T (p.Gly4891Cys)
c.14656G>T (p.Gly4886Cys)
c.14686G>T (p.Gly4896Cys)
c.14602G>T (p.Gly4868Cys)
19g.38584986G>ACA405690291RYR1c.1626G>A
c.3023G>A
c.2995G>A
n.83G>A
c.14690G>A (p.Gly4897Asp)
c.14675G>A (p.Gly4892Asp)
c.14672G>A (p.Gly4891Asp)
c.14657G>A (p.Gly4886Asp)
c.14687G>A (p.Gly4896Asp)
c.14603G>A (p.Gly4868Asp)
 ClinVar dbSNP
19g.38584986G>CCA405690292RYR1c.1626G>C
c.3023G>C
c.2995G>C
n.83G>C
c.14690G>C (p.Gly4897Ala)
c.14675G>C (p.Gly4892Ala)
c.14672G>C (p.Gly4891Ala)
c.14657G>C (p.Gly4886Ala)
c.14687G>C (p.Gly4896Ala)
c.14603G>C (p.Gly4868Ala)
19g.38584986G=CA2335094948RYR1c.1626G=
c.3023G=
c.2995G=
n.83G=
c.14690G= (p.Gly4897=)
c.14675G= (p.Gly4892=)
c.14672G= (p.Gly4891=)
c.14657G= (p.Gly4886=)
c.14687G= (p.Gly4896=)
c.14603G= (p.Gly4868=)
19g.38584986G>TCA024231RYR1c.1626G>T
c.3023G>T
c.2995G>T
n.83G>T
c.14690G>T (p.Gly4897Val)
c.14675G>T (p.Gly4892Val)
c.14672G>T (p.Gly4891Val)
c.14657G>T (p.Gly4886Val)
c.14687G>T (p.Gly4896Val)
c.14603G>T (p.Gly4868Val)
 ClinVar dbSNP
19g.38584987C>ACA507246343RYR1c.1627C>A
c.3024C>A
c.2996C>A
n.84C>A
c.14691C>A (p.Gly4897=)
c.14676C>A (p.Gly4892=)
c.14673C>A (p.Gly4891=)
c.14658C>A (p.Gly4886=)
c.14688C>A (p.Gly4896=)
c.14604C>A (p.Gly4868=)
19g.38584987C>GCA507246344RYR1c.1627C>G
c.3024C>G
c.2996C>G
n.84C>G
c.14691C>G (p.Gly4897=)
c.14676C>G (p.Gly4892=)
c.14673C>G (p.Gly4891=)
c.14658C>G (p.Gly4886=)
c.14688C>G (p.Gly4896=)
c.14604C>G (p.Gly4868=)
19g.38584987C>TCA507246342RYR1c.1627C>T
c.3024C>T
c.2996C>T
n.84C>T
c.14691C>T (p.Gly4897=)
c.14676C>T (p.Gly4892=)
c.14673C>T (p.Gly4891=)
c.14658C>T (p.Gly4886=)
c.14688C>T (p.Gly4896=)
c.14604C>T (p.Gly4868=)
19g.38584988A>CCA405690295RYR1c.1628A>C
c.3025A>C
c.2997A>C
n.85A>C
c.14692A>C (p.Ile4898Leu)
c.14677A>C (p.Ile4893Leu)
c.14674A>C (p.Ile4892Leu)
c.14659A>C (p.Ile4887Leu)
c.14689A>C (p.Ile4897Leu)
c.14605A>C (p.Ile4869Leu)
19g.38584988A>GCA405690297RYR1c.1628A>G
c.3025A>G
c.2997A>G
n.85A>G
c.14692A>G (p.Ile4898Val)
c.14677A>G (p.Ile4893Val)
c.14674A>G (p.Ile4892Val)
c.14659A>G (p.Ile4887Val)
c.14689A>G (p.Ile4897Val)
c.14605A>G (p.Ile4869Val)
19g.38584988A>TCA405690299RYR1c.1628A>T
c.3025A>T
c.2997A>T
n.85A>T
c.14692A>T (p.Ile4898Phe)
c.14677A>T (p.Ile4893Phe)
c.14674A>T (p.Ile4892Phe)
c.14659A>T (p.Ile4887Phe)
c.14689A>T (p.Ile4897Phe)
c.14605A>T (p.Ile4869Phe)
19g.38584989T>ACA405690302RYR1c.1629T>A
c.3026T>A
c.2998T>A
n.86T>A
c.14693T>A (p.Ile4898Asn)
c.14678T>A (p.Ile4893Asn)
c.14675T>A (p.Ile4892Asn)
c.14660T>A (p.Ile4887Asn)
c.14690T>A (p.Ile4897Asn)
c.14606T>A (p.Ile4869Asn)
 ClinVar dbSNP
19g.38584989T>CCA024233RYR1c.1629T>C
c.3026T>C
c.2998T>C
n.86T>C
c.14693T>C (p.Ile4898Thr)
c.14678T>C (p.Ile4893Thr)
c.14675T>C (p.Ile4892Thr)
c.14660T>C (p.Ile4887Thr)
c.14690T>C (p.Ile4897Thr)
c.14606T>C (p.Ile4869Thr)
 ClinVar dbSNP gnomAD v4
19g.38584989T>GCA405690306RYR1c.1629T>G
c.3026T>G
c.2998T>G
n.86T>G
c.14693T>G (p.Ile4898Ser)
c.14678T>G (p.Ile4893Ser)
c.14675T>G (p.Ile4892Ser)
c.14660T>G (p.Ile4887Ser)
c.14690T>G (p.Ile4897Ser)
c.14606T>G (p.Ile4869Ser)
 ClinVar
19g.38584989T=CA2335094949RYR1c.1629T=
c.3026T=
c.2998T=
n.86T=
c.14693T= (p.Ile4898=)
c.14678T= (p.Ile4893=)
c.14675T= (p.Ile4892=)
c.14660T= (p.Ile4887=)
c.14690T= (p.Ile4897=)
c.14606T= (p.Ile4869=)
19g.38584990dupCA2584911050RYR1c.1630dup
c.3027dup
c.2999dup
n.87dup
c.14694dup (p.Gly4899TrpfsTer10)
c.14679dup (p.Gly4894TrpfsTer10)
c.14676dup (p.Gly4893TrpfsTer10)
c.14661dup (p.Gly4888TrpfsTer10)
c.14691dup (p.Gly4898TrpfsTer10)
c.14607dup (p.Gly4870TrpfsTer10)
 gnomAD v4
19g.38584990T>ACA507246348RYR1c.1630T>A
c.3027T>A
c.2999T>A
n.87T>A
c.14694T>A (p.Ile4898=)
c.14679T>A (p.Ile4893=)
c.14676T>A (p.Ile4892=)
c.14661T>A (p.Ile4887=)
c.14691T>A (p.Ile4897=)
c.14607T>A (p.Ile4869=)
19g.38584990T>CCA507246347RYR1c.1630T>C
c.3027T>C
c.2999T>C
n.87T>C
c.14694T>C (p.Ile4898=)
c.14679T>C (p.Ile4893=)
c.14676T>C (p.Ile4892=)
c.14661T>C (p.Ile4887=)
c.14691T>C (p.Ile4897=)
c.14607T>C (p.Ile4869=)
 gnomAD v4
19g.38584990T>GCA405690307RYR1c.1630T>G
c.3027T>G
c.2999T>G
n.87T>G
c.14694T>G (p.Ile4898Met)
c.14679T>G (p.Ile4893Met)
c.14676T>G (p.Ile4892Met)
c.14661T>G (p.Ile4887Met)
c.14691T>G (p.Ile4897Met)
c.14607T>G (p.Ile4869Met)
19g.38584991G>ACA024235RYR1c.1631G>A
c.3028G>A
c.3000G>A
n.88G>A
c.14695G>A (p.Gly4899Arg)
c.14680G>A (p.Gly4894Arg)
c.14677G>A (p.Gly4893Arg)
c.14662G>A (p.Gly4888Arg)
c.14692G>A (p.Gly4898Arg)
c.14608G>A (p.Gly4870Arg)
 ClinVar dbSNP
19g.38584991G>CCA405690308RYR1c.1631G>C
c.3028G>C
c.3000G>C
n.88G>C
c.14695G>C (p.Gly4899Arg)
c.14680G>C (p.Gly4894Arg)
c.14677G>C (p.Gly4893Arg)
c.14662G>C (p.Gly4888Arg)
c.14692G>C (p.Gly4898Arg)
c.14608G>C (p.Gly4870Arg)
19g.38584991G=CA2335094950RYR1c.1631G=
c.3028G=
c.3000G=
n.88G=
c.14695G= (p.Gly4899=)
c.14680G= (p.Gly4894=)
c.14677G= (p.Gly4893=)
c.14662G= (p.Gly4888=)
c.14692G= (p.Gly4898=)
c.14608G= (p.Gly4870=)
19g.38584991G>TCA405690309RYR1c.1631G>T
c.3028G>T
c.3000G>T
n.88G>T
c.14695G>T (p.Gly4899Trp)
c.14680G>T (p.Gly4894Trp)
c.14677G>T (p.Gly4893Trp)
c.14662G>T (p.Gly4888Trp)
c.14692G>T (p.Gly4898Trp)
c.14608G>T (p.Gly4870Trp)
19g.38584992G>ACA024237RYR1c.1632G>A
c.3029G>A
c.3001G>A
n.89G>A
c.14696G>A (p.Gly4899Glu)
c.14681G>A (p.Gly4894Glu)
c.14678G>A (p.Gly4893Glu)
c.14663G>A (p.Gly4888Glu)
c.14693G>A (p.Gly4898Glu)
c.14609G>A (p.Gly4870Glu)
 ClinVar dbSNP
19g.38584992G>CCA405690312RYR1c.1632G>C
c.3029G>C
c.3001G>C
n.89G>C
c.14696G>C (p.Gly4899Ala)
c.14681G>C (p.Gly4894Ala)
c.14678G>C (p.Gly4893Ala)
c.14663G>C (p.Gly4888Ala)
c.14693G>C (p.Gly4898Ala)
c.14609G>C (p.Gly4870Ala)
19g.38584992G=CA2335094951RYR1c.1632G=
c.3029G=
c.3001G=
n.89G=
c.14696G= (p.Gly4899=)
c.14681G= (p.Gly4894=)
c.14678G= (p.Gly4893=)
c.14663G= (p.Gly4888=)
c.14693G= (p.Gly4898=)
c.14609G= (p.Gly4870=)
19g.38584992G>TCA405690314RYR1c.1632G>T
c.3029G>T
c.3001G>T
n.89G>T
c.14696G>T (p.Gly4899Val)
c.14681G>T (p.Gly4894Val)
c.14678G>T (p.Gly4893Val)
c.14663G>T (p.Gly4888Val)
c.14693G>T (p.Gly4898Val)
c.14609G>T (p.Gly4870Val)
19g.38584993G>ACA061519RYR1c.1633G>A
c.3030G>A
c.3002G>A
n.90G>A
c.14697G>A (p.Gly4899=)
c.14682G>A (p.Gly4894=)
c.14679G>A (p.Gly4893=)
c.14664G>A (p.Gly4888=)
c.14694G>A (p.Gly4898=)
c.14610G>A (p.Gly4870=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38584993G>CCA507246351RYR1c.1633G>C
c.3030G>C
c.3002G>C
n.90G>C
c.14697G>C (p.Gly4899=)
c.14682G>C (p.Gly4894=)
c.14679G>C (p.Gly4893=)
c.14664G>C (p.Gly4888=)
c.14694G>C (p.Gly4898=)
c.14610G>C (p.Gly4870=)
19g.38584993G=CA2335094952RYR1c.1633G=
c.3030G=
c.3002G=
n.90G=
c.14697G= (p.Gly4899=)
c.14682G= (p.Gly4894=)
c.14679G= (p.Gly4893=)
c.14664G= (p.Gly4888=)
c.14694G= (p.Gly4898=)
c.14610G= (p.Gly4870=)
19g.38584993G>TCA061521RYR1c.1633G>T
c.3030G>T
c.3002G>T
n.90G>T
c.14697G>T (p.Gly4899=)
c.14682G>T (p.Gly4894=)
c.14679G>T (p.Gly4893=)
c.14664G>T (p.Gly4888=)
c.14694G>T (p.Gly4898=)
c.14610G>T (p.Gly4870=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38584994G>ACA405690320RYR1c.1634G>A
c.3031G>A
c.3003G>A
n.91G>A
c.14698G>A (p.Asp4900Asn)
c.14683G>A (p.Asp4895Asn)
c.14680G>A (p.Asp4894Asn)
c.14665G>A (p.Asp4889Asn)
c.14695G>A (p.Asp4899Asn)
c.14611G>A (p.Asp4871Asn)
19g.38584994G>CCA405690323RYR1c.1634G>C
c.3031G>C
c.3003G>C
n.91G>C
c.14698G>C (p.Asp4900His)
c.14683G>C (p.Asp4895His)
c.14680G>C (p.Asp4894His)
c.14665G>C (p.Asp4889His)
c.14695G>C (p.Asp4899His)
c.14611G>C (p.Asp4871His)
19g.38584994G>TCA405690327RYR1c.1634G>T
c.3031G>T
c.3003G>T
n.91G>T
c.14698G>T (p.Asp4900Tyr)
c.14683G>T (p.Asp4895Tyr)
c.14680G>T (p.Asp4894Tyr)
c.14665G>T (p.Asp4889Tyr)
c.14695G>T (p.Asp4899Tyr)
c.14611G>T (p.Asp4871Tyr)
19g.38584995A>CCA405690330RYR1c.1635A>C
c.3032A>C
c.3004A>C
n.92A>C
c.14699A>C (p.Asp4900Ala)
c.14684A>C (p.Asp4895Ala)
c.14681A>C (p.Asp4894Ala)
c.14666A>C (p.Asp4889Ala)
c.14696A>C (p.Asp4899Ala)
c.14612A>C (p.Asp4871Ala)
19g.38584995A>GCA405690333RYR1c.1635A>G
c.3032A>G
c.3004A>G
n.92A>G
c.14699A>G (p.Asp4900Gly)
c.14684A>G (p.Asp4895Gly)
c.14681A>G (p.Asp4894Gly)
c.14666A>G (p.Asp4889Gly)
c.14696A>G (p.Asp4899Gly)
c.14612A>G (p.Asp4871Gly)
 ClinVar dbSNP COSMIC
19g.38584995A>TCA405690342RYR1c.1635A>T
c.3032A>T
c.3004A>T
n.92A>T
c.14699A>T (p.Asp4900Val)
c.14684A>T (p.Asp4895Val)
c.14681A>T (p.Asp4894Val)
c.14666A>T (p.Asp4889Val)
c.14696A>T (p.Asp4899Val)
c.14612A>T (p.Asp4871Val)
19g.38584996C>ACA405690351RYR1c.1636C>A
c.3033C>A
c.3005C>A
n.93C>A
c.14700C>A (p.Asp4900Glu)
c.14685C>A (p.Asp4895Glu)
c.14682C>A (p.Asp4894Glu)
c.14667C>A (p.Asp4889Glu)
c.14697C>A (p.Asp4899Glu)
c.14613C>A (p.Asp4871Glu)
19g.38584996C=CA2335094953RYR1c.1636C=
c.3033C=
c.3005C=
n.93C=
c.14700C= (p.Asp4900=)
c.14685C= (p.Asp4895=)
c.14682C= (p.Asp4894=)
c.14667C= (p.Asp4889=)
c.14697C= (p.Asp4899=)
c.14613C= (p.Asp4871=)
19g.38584996C>GCA405690348RYR1c.1636C>G
c.3033C>G
c.3005C>G
n.93C>G
c.14700C>G (p.Asp4900Glu)
c.14685C>G (p.Asp4895Glu)
c.14682C>G (p.Asp4894Glu)
c.14667C>G (p.Asp4889Glu)
c.14697C>G (p.Asp4899Glu)
c.14613C>G (p.Asp4871Glu)
19g.38584996C>TCA081298RYR1c.1636C>T
c.3033C>T
c.3005C>T
n.93C>T
c.14700C>T (p.Asp4900=)
c.14685C>T (p.Asp4895=)
c.14682C>T (p.Asp4894=)
c.14667C>T (p.Asp4889=)
c.14697C>T (p.Asp4899=)
c.14613C>T (p.Asp4871=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38584998_38585012dupCA2580097258RYR1c.1638_1652dup
c.3035_3049dup
c.3007_3021dup
n.95_109dup
c.14702_14716dup (p.Pro4905_Ala4906insGluIleGluAspPro)
c.14687_14701dup (p.Pro4900_Ala4901insGluIleGluAspPro)
c.14684_14698dup (p.Pro4899_Ala4900insGluIleGluAspPro)
c.14669_14683dup (p.Pro4894_Ala4895insGluIleGluAspPro)
c.14699_14713dup (p.Pro4904_Ala4905insGluIleGluAspPro)
c.14615_14629dup (p.Pro4876_Ala4877insGluIleGluAspPro)
 ClinVar
19g.38584997G>ACA061530RYR1c.1637G>A
c.3034G>A
c.3006G>A
n.94G>A
c.14701G>A (p.Glu4901Lys)
c.14686G>A (p.Glu4896Lys)
c.14683G>A (p.Glu4895Lys)
c.14668G>A (p.Glu4890Lys)
c.14698G>A (p.Glu4900Lys)
c.14614G>A (p.Glu4872Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38584997G>CCA405690362RYR1c.1637G>C
c.3034G>C
c.3006G>C
n.94G>C
c.14701G>C (p.Glu4901Gln)
c.14686G>C (p.Glu4896Gln)
c.14683G>C (p.Glu4895Gln)
c.14668G>C (p.Glu4890Gln)
c.14698G>C (p.Glu4900Gln)
c.14614G>C (p.Glu4872Gln)
19g.38584997G=CA2335094954RYR1c.1637G=
c.3034G=
c.3006G=
n.94G=
c.14701G= (p.Glu4901=)
c.14686G= (p.Glu4896=)
c.14683G= (p.Glu4895=)
c.14668G= (p.Glu4890=)
c.14698G= (p.Glu4900=)
c.14614G= (p.Glu4872=)
19g.38584997G>TCA405690358RYR1c.1637G>T
c.3034G>T
c.3006G>T
n.94G>T
c.14701G>T (p.Glu4901Ter)
c.14686G>T (p.Glu4896Ter)
c.14683G>T (p.Glu4895Ter)
c.14668G>T (p.Glu4890Ter)
c.14698G>T (p.Glu4900Ter)
c.14614G>T (p.Glu4872Ter)
19g.38584998A>CCA405690368RYR1c.1638A>C
c.3035A>C
c.3007A>C
n.95A>C
c.14702A>C (p.Glu4901Ala)
c.14687A>C (p.Glu4896Ala)
c.14684A>C (p.Glu4895Ala)
c.14669A>C (p.Glu4890Ala)
c.14699A>C (p.Glu4900Ala)
c.14615A>C (p.Glu4872Ala)
19g.38584998A>GCA405690371RYR1c.1638A>G
c.3035A>G
c.3007A>G
n.95A>G
c.14702A>G (p.Glu4901Gly)
c.14687A>G (p.Glu4896Gly)
c.14684A>G (p.Glu4895Gly)
c.14669A>G (p.Glu4890Gly)
c.14699A>G (p.Glu4900Gly)
c.14615A>G (p.Glu4872Gly)
19g.38584998A>TCA405690372RYR1c.1638A>T
c.3035A>T
c.3007A>T
n.95A>T
c.14702A>T (p.Glu4901Val)
c.14687A>T (p.Glu4896Val)
c.14684A>T (p.Glu4895Val)
c.14669A>T (p.Glu4890Val)
c.14699A>T (p.Glu4900Val)
c.14615A>T (p.Glu4872Val)
19g.38584999G>ACA507246355RYR1c.1639G>A
c.3036G>A
c.3008G>A
n.96G>A
c.14703G>A (p.Glu4901=)
c.14688G>A (p.Glu4896=)
c.14685G>A (p.Glu4895=)
c.14670G>A (p.Glu4890=)
c.14700G>A (p.Glu4900=)
c.14616G>A (p.Glu4872=)
19g.38584999G>CCA405690377RYR1c.1639G>C
c.3036G>C
c.3008G>C
n.96G>C
c.14703G>C (p.Glu4901Asp)
c.14688G>C (p.Glu4896Asp)
c.14685G>C (p.Glu4895Asp)
c.14670G>C (p.Glu4890Asp)
c.14700G>C (p.Glu4900Asp)
c.14616G>C (p.Glu4872Asp)
19g.38584999G>TCA405690380RYR1c.1639G>T
c.3036G>T
c.3008G>T
n.96G>T
c.14703G>T (p.Glu4901Asp)
c.14688G>T (p.Glu4896Asp)
c.14685G>T (p.Glu4895Asp)
c.14670G>T (p.Glu4890Asp)
c.14700G>T (p.Glu4900Asp)
c.14616G>T (p.Glu4872Asp)
19g.38585000A>CCA405690383RYR1c.1640A>C
c.3037A>C
c.3009A>C
n.97A>C
c.14704A>C (p.Ile4902Leu)
c.14689A>C (p.Ile4897Leu)
c.14686A>C (p.Ile4896Leu)
c.14671A>C (p.Ile4891Leu)
c.14701A>C (p.Ile4901Leu)
c.14617A>C (p.Ile4873Leu)
19g.38585000A>GCA405690384RYR1c.1640A>G
c.3037A>G
c.3009A>G
n.97A>G
c.14704A>G (p.Ile4902Val)
c.14689A>G (p.Ile4897Val)
c.14686A>G (p.Ile4896Val)
c.14671A>G (p.Ile4891Val)
c.14701A>G (p.Ile4901Val)
c.14617A>G (p.Ile4873Val)
19g.38585000A>TCA405690385RYR1c.1640A>T
c.3037A>T
c.3009A>T
n.97A>T
c.14704A>T (p.Ile4902Phe)
c.14689A>T (p.Ile4897Phe)
c.14686A>T (p.Ile4896Phe)
c.14671A>T (p.Ile4891Phe)
c.14701A>T (p.Ile4901Phe)
c.14617A>T (p.Ile4873Phe)
19g.38585001T>ACA405690386RYR1c.1641T>A
c.3038T>A
c.3010T>A
n.98T>A
c.14705T>A (p.Ile4902Asn)
c.14690T>A (p.Ile4897Asn)
c.14687T>A (p.Ile4896Asn)
c.14672T>A (p.Ile4891Asn)
c.14702T>A (p.Ile4901Asn)
c.14618T>A (p.Ile4873Asn)
19g.38585001T>CCA405690387RYR1c.1641T>C
c.3038T>C
c.3010T>C
n.98T>C
c.14705T>C (p.Ile4902Thr)
c.14690T>C (p.Ile4897Thr)
c.14687T>C (p.Ile4896Thr)
c.14672T>C (p.Ile4891Thr)
c.14702T>C (p.Ile4901Thr)
c.14618T>C (p.Ile4873Thr)
 ClinVar dbSNP
19g.38585001T>GCA405690389RYR1c.1641T>G
c.3038T>G
c.3010T>G
n.98T>G
c.14705T>G (p.Ile4902Ser)
c.14690T>G (p.Ile4897Ser)
c.14687T>G (p.Ile4896Ser)
c.14672T>G (p.Ile4891Ser)
c.14702T>G (p.Ile4901Ser)
c.14618T>G (p.Ile4873Ser)
19g.38585001T=CA2335094955RYR1c.1641T=
c.3038T=
c.3010T=
n.98T=
c.14705T= (p.Ile4902=)
c.14690T= (p.Ile4897=)
c.14687T= (p.Ile4896=)
c.14672T= (p.Ile4891=)
c.14702T= (p.Ile4901=)
c.14618T= (p.Ile4873=)
19g.38585002C>ACA507246358RYR1c.1642C>A
c.3039C>A
c.3011C>A
n.99C>A
c.14706C>A (p.Ile4902=)
c.14691C>A (p.Ile4897=)
c.14688C>A (p.Ile4896=)
c.14673C>A (p.Ile4891=)
c.14703C>A (p.Ile4901=)
c.14619C>A (p.Ile4873=)
19g.38585002C=CA2335094956RYR1c.1642C=
c.3039C=
c.3011C=
n.99C=
c.14706C= (p.Ile4902=)
c.14691C= (p.Ile4897=)
c.14688C= (p.Ile4896=)
c.14673C= (p.Ile4891=)
c.14703C= (p.Ile4901=)
c.14619C= (p.Ile4873=)
19g.38585002C>GCA405690396RYR1c.1642C>G
c.3039C>G
c.3011C>G
n.99C>G
c.14706C>G (p.Ile4902Met)
c.14691C>G (p.Ile4897Met)
c.14688C>G (p.Ile4896Met)
c.14673C>G (p.Ile4891Met)
c.14703C>G (p.Ile4901Met)
c.14619C>G (p.Ile4873Met)
19g.38585002C>TCA10642775RYR1c.1642C>T
c.3039C>T
c.3011C>T
n.99C>T
c.14706C>T (p.Ile4902=)
c.14691C>T (p.Ile4897=)
c.14688C>T (p.Ile4896=)
c.14673C>T (p.Ile4891=)
c.14703C>T (p.Ile4901=)
c.14619C>T (p.Ile4873=)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
19g.38585003G>ACA061534RYR1c.1643G>A
c.3040G>A
c.3012G>A
n.100G>A
c.14707G>A (p.Glu4903Lys)
c.14692G>A (p.Glu4898Lys)
c.14689G>A (p.Glu4897Lys)
c.14674G>A (p.Glu4892Lys)
c.14704G>A (p.Glu4902Lys)
c.14620G>A (p.Glu4874Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38585003G>CCA405690409RYR1c.1643G>C
c.3040G>C
c.3012G>C
n.100G>C
c.14707G>C (p.Glu4903Gln)
c.14692G>C (p.Glu4898Gln)
c.14689G>C (p.Glu4897Gln)
c.14674G>C (p.Glu4892Gln)
c.14704G>C (p.Glu4902Gln)
c.14620G>C (p.Glu4874Gln)
19g.38585003G=CA2335094957RYR1c.1643G=
c.3040G=
c.3012G=
n.100G=
c.14707G= (p.Glu4903=)
c.14692G= (p.Glu4898=)
c.14689G= (p.Glu4897=)
c.14674G= (p.Glu4892=)
c.14704G= (p.Glu4902=)
c.14620G= (p.Glu4874=)
19g.38585003G>TCA405690406RYR1c.1643G>T
c.3040G>T
c.3012G>T
n.100G>T
c.14707G>T (p.Glu4903Ter)
c.14692G>T (p.Glu4898Ter)
c.14689G>T (p.Glu4897Ter)
c.14674G>T (p.Glu4892Ter)
c.14704G>T (p.Glu4902Ter)
c.14620G>T (p.Glu4874Ter)
19g.38585004A>CCA405690410RYR1c.1644A>C
c.3041A>C
c.3013A>C
n.101A>C
c.14708A>C (p.Glu4903Ala)
c.14693A>C (p.Glu4898Ala)
c.14690A>C (p.Glu4897Ala)
c.14675A>C (p.Glu4892Ala)
c.14705A>C (p.Glu4902Ala)
c.14621A>C (p.Glu4874Ala)
19g.38585004A>GCA405690412RYR1c.1644A>G
c.3041A>G
c.3013A>G
n.101A>G
c.14708A>G (p.Glu4903Gly)
c.14693A>G (p.Glu4898Gly)
c.14690A>G (p.Glu4897Gly)
c.14675A>G (p.Glu4892Gly)
c.14705A>G (p.Glu4902Gly)
c.14621A>G (p.Glu4874Gly)
19g.38585004A>TCA405690414RYR1c.1644A>T
c.3041A>T
c.3013A>T
n.101A>T
c.14708A>T (p.Glu4903Val)
c.14693A>T (p.Glu4898Val)
c.14690A>T (p.Glu4897Val)
c.14675A>T (p.Glu4892Val)
c.14705A>T (p.Glu4902Val)
c.14621A>T (p.Glu4874Val)

Number of alleles fetched