Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38500765G>ACA2584900529RYR1c.7444+39G>A (n.7444+39G>A)
c.7441+39G>A (n.7441+39G>A)
c.896+39G>A
n.7527+39G>A
 gnomAD v4
19g.38500765G>TCA2584900530RYR1c.7444+39G>T (n.7444+39G>T)
c.7441+39G>T (n.7441+39G>T)
c.896+39G>T
n.7527+39G>T
 gnomAD v4
19g.38500766G>TCA2584900531RYR1c.7444+40G>T (n.7444+40G>T)
c.7441+40G>T (n.7441+40G>T)
c.896+40G>T
n.7527+40G>T
 gnomAD v4
19g.38500767G>ACA633066122RYR1c.7444+41G>A (n.7444+41G>A)
c.7441+41G>A (n.7441+41G>A)
c.896+41G>A
n.7527+41G>A
 dbSNP gnomAD v2 gnomAD v4
19g.38500767G=CA2335053419RYR1c.7444+41G= (n.7444+41G=)
c.7441+41G= (n.7441+41G=)
c.896+41G=
n.7527+41G=
19g.38500769G>ACA069650RYR1c.7444+43G>A (n.7444+43G>A)
c.7441+43G>A (n.7441+43G>A)
c.896+43G>A
n.7527+43G>A
 dbSNP ExAC gnomAD v2
19g.38500769G=CA2335053420RYR1c.7444+43G= (n.7444+43G=)
c.7441+43G= (n.7441+43G=)
c.896+43G=
n.7527+43G=
19g.38500770G>CCA633066123RYR1c.7444+44G>C (n.7444+44G>C)
c.7441+44G>C (n.7441+44G>C)
c.896+44G>C
n.7527+44G>C
 dbSNP gnomAD v2 gnomAD v4
19g.38500770G=CA2335053421RYR1c.7444+44G= (n.7444+44G=)
c.7441+44G= (n.7441+44G=)
c.896+44G=
n.7527+44G=
19g.38500771G>ACA069653RYR1c.7444+45G>A (n.7444+45G>A)
c.7441+45G>A (n.7441+45G>A)
c.896+45G>A
n.7527+45G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38500771G=CA2335053422RYR1c.7444+45G= (n.7444+45G=)
c.7441+45G= (n.7441+45G=)
c.896+45G=
n.7527+45G=
19g.38500774C=CA2335053423RYR1c.7445-47C= (n.7445-47C=)
c.7442-47C= (n.7442-47C=)
c.897-47C=
n.7528-47C=
19g.38500774C>TCA308110558RYR1c.7445-47C>T (n.7445-47C>T)
c.7442-47C>T (n.7442-47C>T)
c.897-47C>T
n.7528-47C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38500775G>ACA069683RYR1c.7445-46G>A (n.7445-46G>A)
c.7442-46G>A (n.7442-46G>A)
c.897-46G>A
n.7528-46G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38500775G>CCA308110562RYR1c.7445-46G>C (n.7445-46G>C)
c.7442-46G>C (n.7442-46G>C)
c.897-46G>C
n.7528-46G>C
 dbSNP gnomAD v4
19g.38500775G=CA2335053424RYR1c.7445-46G= (n.7445-46G=)
c.7442-46G= (n.7442-46G=)
c.897-46G=
n.7528-46G=
19g.38500775G>TCA069685RYR1c.7445-46G>T (n.7445-46G>T)
c.7442-46G>T (n.7442-46G>T)
c.897-46G>T
n.7528-46G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38500777C=CA2335053425RYR1c.7445-44C= (n.7445-44C=)
c.7442-44C= (n.7442-44C=)
c.897-44C=
n.7528-44C=
19g.38500777C>TCA882052395RYR1c.7445-44C>T (n.7445-44C>T)
c.7442-44C>T (n.7442-44C>T)
c.897-44C>T
n.7528-44C>T
 dbSNP gnomAD v3 gnomAD v4
19g.38500779G>ACA2335053427RYR1c.7445-42G>A (n.7445-42G>A)
c.7442-42G>A (n.7442-42G>A)
c.897-42G>A
n.7528-42G>A
 dbSNP
19g.38500779G=CA2335053426RYR1c.7445-42G= (n.7445-42G=)
c.7442-42G= (n.7442-42G=)
c.897-42G=
n.7528-42G=
19g.38500780G>ACA069679RYR1c.7445-41G>A (n.7445-41G>A)
c.7442-41G>A (n.7442-41G>A)
c.897-41G>A
n.7528-41G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38500780G=CA2335053428RYR1c.7445-41G= (n.7445-41G=)
c.7442-41G= (n.7442-41G=)
c.897-41G=
n.7528-41G=
19g.38500780G>TCA308110576RYR1c.7445-41G>T (n.7445-41G>T)
c.7442-41G>T (n.7442-41G>T)
c.897-41G>T
n.7528-41G>T
 dbSNP gnomAD v4
19g.38500782T>ACA633066125RYR1c.7445-39T>A (n.7445-39T>A)
c.7442-39T>A (n.7442-39T>A)
c.897-39T>A
n.7528-39T>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38500782T>CCA633066124RYR1c.7445-39T>C (n.7445-39T>C)
c.7442-39T>C (n.7442-39T>C)
c.897-39T>C
n.7528-39T>C
 dbSNP gnomAD v2 gnomAD v4
19g.38500782T>GCA069675RYR1c.7445-39T>G (n.7445-39T>G)
c.7442-39T>G (n.7442-39T>G)
c.897-39T>G
n.7528-39T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38500782T=CA2335053429RYR1c.7445-39T= (n.7445-39T=)
c.7442-39T= (n.7442-39T=)
c.897-39T=
n.7528-39T=
19g.38500783C=CA2335053430RYR1c.7445-38C= (n.7445-38C=)
c.7442-38C= (n.7442-38C=)
c.897-38C=
n.7528-38C=
19g.38500783C>TCA882052396RYR1c.7445-38C>T (n.7445-38C>T)
c.7442-38C>T (n.7442-38C>T)
c.897-38C>T
n.7528-38C>T
 dbSNP gnomAD v3 gnomAD v4
19g.38500784C>ACA633066126RYR1c.7445-37C>A (n.7445-37C>A)
c.7442-37C>A (n.7442-37C>A)
c.897-37C>A
n.7528-37C>A
 dbSNP gnomAD v2 gnomAD v4
19g.38500784C=CA2335053431RYR1c.7445-37C= (n.7445-37C=)
c.7442-37C= (n.7442-37C=)
c.897-37C=
n.7528-37C=
19g.38500784C>TCA069674RYR1c.7445-37C>T (n.7445-37C>T)
c.7442-37C>T (n.7442-37C>T)
c.897-37C>T
n.7528-37C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38500785G>ACA069670RYR1c.7445-36G>A (n.7445-36G>A)
c.7442-36G>A (n.7442-36G>A)
c.897-36G>A
n.7528-36G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38500785G=CA2335053432RYR1c.7445-36G= (n.7445-36G=)
c.7442-36G= (n.7442-36G=)
c.897-36G=
n.7528-36G=
19g.38500785G>TCA633066127RYR1c.7445-36G>T (n.7445-36G>T)
c.7442-36G>T (n.7442-36G>T)
c.897-36G>T
n.7528-36G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38500786C>TCA2551528334RYR1c.7445-35C>T (n.7445-35C>T)
c.7442-35C>T (n.7442-35C>T)
c.897-35C>T
n.7528-35C>T
 gnomAD v4
19g.38500787A>GCA2576770882RYR1c.7445-34A>G (n.7445-34A>G)
c.7442-34A>G (n.7442-34A>G)
c.897-34A>G
n.7528-34A>G
 gnomAD v4
19g.38500788G>ACA082456RYR1c.7445-33G>A (n.7445-33G>A)
c.7442-33G>A (n.7442-33G>A)
c.897-33G>A
n.7528-33G>A
 gnomAD v4
19g.38500790G>ACA2576770883RYR1c.7445-31G>A (n.7445-31G>A)
c.7442-31G>A (n.7442-31G>A)
c.897-31G>A
n.7528-31G>A
19g.38500791C>ACA2584900532RYR1c.7445-30C>A (n.7445-30C>A)
c.7442-30C>A (n.7442-30C>A)
c.897-30C>A
n.7528-30C>A
 gnomAD v4
19g.38500791C>TCA2557202509RYR1c.7445-30C>T (n.7445-30C>T)
c.7442-30C>T (n.7442-30C>T)
c.897-30C>T
n.7528-30C>T
19g.38500792A>TCA2584900533RYR1c.7445-29A>T (n.7445-29A>T)
c.7442-29A>T (n.7442-29A>T)
c.897-29A>T
n.7528-29A>T
 gnomAD v4
19g.38500794C>ACA2584900536RYR1c.7445-27C>A (n.7445-27C>A)
c.7442-27C>A (n.7442-27C>A)
c.897-27C>A
n.7528-27C>A
 gnomAD v4
19g.38500794C>TCA2584900534RYR1c.7445-27C>T (n.7445-27C>T)
c.7442-27C>T (n.7442-27C>T)
c.897-27C>T
n.7528-27C>T
 gnomAD v4
19g.38500797dupCA2584900535RYR1c.7445-24dup (n.7445-24dup)
c.7442-24dup (n.7442-24dup)
c.897-24dup
n.7528-24dup
 gnomAD v4
19g.38500795C>ACA2584900537RYR1c.7445-26C>A (n.7445-26C>A)
c.7442-26C>A (n.7442-26C>A)
c.897-26C>A
n.7528-26C>A
 gnomAD v4
19g.38500795C>GCA2814346337RYR1c.7445-26C>G (n.7445-26C>G)
c.7442-26C>G (n.7442-26C>G)
c.897-26C>G
n.7528-26C>G
19g.38500796C>TCA2584900538RYR1c.7445-25C>T (n.7445-25C>T)
c.7442-25C>T (n.7442-25C>T)
c.897-25C>T
n.7528-25C>T
 gnomAD v4
19g.38500797C>ACA2584900539RYR1c.7445-24C>A (n.7445-24C>A)
c.7442-24C>A (n.7442-24C>A)
c.897-24C>A
n.7528-24C>A
 gnomAD v4
19g.38500797C=CA2335053433RYR1c.7445-24C= (n.7445-24C=)
c.7442-24C= (n.7442-24C=)
c.897-24C=
n.7528-24C=
19g.38500797C>GCA2584900541RYR1c.7445-24C>G (n.7445-24C>G)
c.7442-24C>G (n.7442-24C>G)
c.897-24C>G
n.7528-24C>G
 gnomAD v4
19g.38500797C>TCA2335053434RYR1c.7445-24C>T (n.7445-24C>T)
c.7442-24C>T (n.7442-24C>T)
c.897-24C>T
n.7528-24C>T
 dbSNP gnomAD v3 gnomAD v4
19g.38500798_38500801delCA2584900540RYR1c.7445-23_7445-20del (n.7445-23_7445-20del)
c.7442-23_7442-20del (n.7442-23_7442-20del)
c.897-23_897-20del
n.7528-23_7528-20del
 gnomAD v4
19g.38500798G>ACA069668RYR1c.7445-23G>A (n.7445-23G>A)
c.7442-23G>A (n.7442-23G>A)
c.897-23G>A
n.7528-23G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38500798G>CCA995716191RYR1c.7445-23G>C (n.7445-23G>C)
c.7442-23G>C (n.7442-23G>C)
c.897-23G>C
n.7528-23G>C
 dbSNP gnomAD v3 gnomAD v4
19g.38500798G=CA2335053435RYR1c.7445-23G= (n.7445-23G=)
c.7442-23G= (n.7442-23G=)
c.897-23G=
n.7528-23G=
19g.38500798_38500800delCA2573320719RYR1c.7445-23_7445-21del (n.7445-23_7445-21del)
c.7442-23_7442-21del (n.7442-23_7442-21del)
c.897-23_897-21del
n.7528-23_7528-21del
 gnomAD v4
19g.38500799A=CA2335053436RYR1c.7445-22A= (n.7445-22A=)
c.7442-22A= (n.7442-22A=)
c.897-22A=
n.7528-22A=
19g.38500799A>CCA995716198RYR1c.7445-22A>C (n.7445-22A>C)
c.7442-22A>C (n.7442-22A>C)
c.897-22A>C
n.7528-22A>C
 dbSNP gnomAD v3 gnomAD v4
19g.38500800A=CA2335053437RYR1c.7445-21A= (n.7445-21A=)
c.7442-21A= (n.7442-21A=)
c.897-21A=
n.7528-21A=
19g.38500800A>GCA069665RYR1c.7445-21A>G (n.7445-21A>G)
c.7442-21A>G (n.7442-21A>G)
c.897-21A>G
n.7528-21A>G
 dbSNP ExAC gnomAD v2
19g.38500801C>ACA995716199RYR1c.7445-20C>A (n.7445-20C>A)
c.7442-20C>A (n.7442-20C>A)
c.897-20C>A
n.7528-20C>A
 dbSNP gnomAD v3 gnomAD v4
19g.38500801C=CA2335053438RYR1c.7445-20C= (n.7445-20C=)
c.7442-20C= (n.7442-20C=)
c.897-20C=
n.7528-20C=
19g.38500803_38500804insCCCCCA2584900542RYR1c.7445-18_7445-17insCCCC (n.7445-18_7445-17insCCCC)
c.7442-18_7442-17insCCCC (n.7442-18_7442-17insCCCC)
c.897-18_897-17insCCCC
n.7528-18_7528-17insCCCC
 gnomAD v4
19g.38500807_38500808insACCCAGCCAGCAACCACCCCA2584900543RYR1c.7445-14_7445-13insACCCAGCCAGCAACCACCC (n.7445-14_7445-13insACCCAGCCAGCAACCACCC)
c.7442-14_7442-13insACCCAGCCAGCAACCACCC (n.7442-14_7442-13insACCCAGCCAGCAACCACCC)
c.897-14_897-13insACCCAGCCAGCAACCACCC
n.7528-14_7528-13insACCCAGCCAGCAACCACCC
 gnomAD v4
19g.38500803C>ACA2584900544RYR1c.7445-18C>A (n.7445-18C>A)
c.7442-18C>A (n.7442-18C>A)
c.897-18C>A
n.7528-18C>A
 gnomAD v4
19g.38500803C=CA2335053439RYR1c.7445-18C= (n.7445-18C=)
c.7442-18C= (n.7442-18C=)
c.897-18C=
n.7528-18C=
19g.38500803C>TCA633066128RYR1c.7445-18C>T (n.7445-18C>T)
c.7442-18C>T (n.7442-18C>T)
c.897-18C>T
n.7528-18C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38500804delCA2584900545RYR1c.7445-17del (n.7445-17del)
c.7442-17del (n.7442-17del)
c.897-17del
n.7528-17del
 gnomAD v4
19g.38500804A=CA2335053440RYR1c.7445-17A= (n.7445-17A=)
c.7442-17A= (n.7442-17A=)
c.897-17A=
n.7528-17A=
19g.38500804A>CCA995716203RYR1c.7445-17A>C (n.7445-17A>C)
c.7442-17A>C (n.7442-17A>C)
c.897-17A>C
n.7528-17A>C
 dbSNP gnomAD v3 gnomAD v4
19g.38500805C=CA2335053441RYR1c.7445-16C= (n.7445-16C=)
c.7442-16C= (n.7442-16C=)
c.897-16C=
n.7528-16C=
19g.38500805C>TCA308110596RYR1c.7445-16C>T (n.7445-16C>T)
c.7442-16C>T (n.7442-16C>T)
c.897-16C>T
n.7528-16C>T
 ClinVar dbSNP gnomAD v4
19g.38500806C>ACA2584900546RYR1c.7445-15C>A (n.7445-15C>A)
c.7442-15C>A (n.7442-15C>A)
c.897-15C>A
n.7528-15C>A
 gnomAD v4
19g.38500806C>TCA2576770884RYR1c.7445-15C>T (n.7445-15C>T)
c.7442-15C>T (n.7442-15C>T)
c.897-15C>T
n.7528-15C>T
 ClinVar gnomAD v4
19g.38500807C>ACA2335053443RYR1c.7445-14C>A (n.7445-14C>A)
c.7442-14C>A (n.7442-14C>A)
c.897-14C>A
n.7528-14C>A
 dbSNP gnomAD v4
19g.38500807C=CA2335053442RYR1c.7445-14C= (n.7445-14C=)
c.7442-14C= (n.7442-14C=)
c.897-14C=
n.7528-14C=
19g.38500808T>ACA995716205RYR1c.7445-13T>A (n.7445-13T>A)
c.7442-13T>A (n.7442-13T>A)
c.897-13T>A
n.7528-13T>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38500808T>CCA2335053445RYR1c.7445-13T>C (n.7445-13T>C)
c.7442-13T>C (n.7442-13T>C)
c.897-13T>C
n.7528-13T>C
 dbSNP gnomAD v4
19g.38500808T>GCA2584900547RYR1c.7445-13T>G (n.7445-13T>G)
c.7442-13T>G (n.7442-13T>G)
c.897-13T>G
n.7528-13T>G
 gnomAD v4
19g.38500808T=CA2335053444RYR1c.7445-13T= (n.7445-13T=)
c.7442-13T= (n.7442-13T=)
c.897-13T=
n.7528-13T=
19g.38500809C>ACA2335053446RYR1c.7445-12C>A (n.7445-12C>A)
c.7442-12C>A (n.7442-12C>A)
c.897-12C>A
n.7528-12C>A
 dbSNP gnomAD v4
19g.38500809C=CA2335053447RYR1c.7445-12C= (n.7445-12C=)
c.7442-12C= (n.7442-12C=)
c.897-12C=
n.7528-12C=
19g.38500809C>GCA995716210RYR1c.7445-12C>G (n.7445-12C>G)
c.7442-12C>G (n.7442-12C>G)
c.897-12C>G
n.7528-12C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38500809C>TCA633066129RYR1c.7445-12C>T (n.7445-12C>T)
c.7442-12C>T (n.7442-12C>T)
c.897-12C>T
n.7528-12C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38500810C=CA2335053448RYR1c.7445-11C= (n.7445-11C=)
c.7442-11C= (n.7442-11C=)
c.897-11C=
n.7528-11C=
19g.38500810C>TCA633066130RYR1c.7445-11C>T (n.7445-11C>T)
c.7442-11C>T (n.7442-11C>T)
c.897-11C>T
n.7528-11C>T
 dbSNP gnomAD v2 gnomAD v4
19g.38500811_38500812insAACCCA2814346340RYR1c.7445-10_7445-9insAACC (n.7445-10_7445-9insAACC)
c.7442-10_7442-9insAACC (n.7442-10_7442-9insAACC)
c.897-10_897-9insAACC
n.7528-10_7528-9insAACC
19g.38500811C>GCA2576770885RYR1c.7445-10C>G (n.7445-10C>G)
c.7442-10C>G (n.7442-10C>G)
c.897-10C>G
n.7528-10C>G
 gnomAD v4
19g.38500812T>ACA995716217RYR1c.7445-9T>A (n.7445-9T>A)
c.7442-9T>A (n.7442-9T>A)
c.897-9T>A
n.7528-9T>A
 dbSNP gnomAD v3 gnomAD v4
19g.38500812T>CCA995716220RYR1c.7445-9T>C (n.7445-9T>C)
c.7442-9T>C (n.7442-9T>C)
c.897-9T>C
n.7528-9T>C
 gnomAD v3 gnomAD v4
19g.38500812T>GCA2584900548RYR1c.7445-9T>G (n.7445-9T>G)
c.7442-9T>G (n.7442-9T>G)
c.897-9T>G
n.7528-9T>G
 gnomAD v4
19g.38500812T=CA2335053449RYR1c.7445-9T= (n.7445-9T=)
c.7442-9T= (n.7442-9T=)
c.897-9T=
n.7528-9T=
19g.38500813G>CCA633066131RYR1c.7445-8G>C (n.7445-8G>C)
c.7442-8G>C (n.7442-8G>C)
c.897-8G>C
n.7528-8G>C
 dbSNP gnomAD v2 gnomAD v4
19g.38500813G=CA2335053450RYR1c.7445-8G= (n.7445-8G=)
c.7442-8G= (n.7442-8G=)
c.897-8G=
n.7528-8G=
19g.38500813G>TCA2584900549RYR1c.7445-8G>T (n.7445-8G>T)
c.7442-8G>T (n.7442-8G>T)
c.897-8G>T
n.7528-8G>T
 gnomAD v4
19g.38500814C>ACA2584900550RYR1c.7445-7C>A (n.7445-7C>A)
c.7442-7C>A (n.7442-7C>A)
c.897-7C>A
n.7528-7C>A
 gnomAD v4
19g.38500814C>GCA2584900551RYR1c.7445-7C>G (n.7445-7C>G)
c.7442-7C>G (n.7442-7C>G)
c.897-7C>G
n.7528-7C>G
 gnomAD v4
19g.38500815C=CA2335053451RYR1c.7445-6C= (n.7445-6C=)
c.7442-6C= (n.7442-6C=)
c.897-6C=
n.7528-6C=
19g.38500815C>TCA069689RYR1c.7445-6C>T (n.7445-6C>T)
c.7442-6C>T (n.7442-6C>T)
c.897-6C>T
n.7528-6C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38500816T>ACA995716222RYR1c.7445-5T>A (n.7445-5T>A)
c.7442-5T>A (n.7442-5T>A)
c.897-5T>A
n.7528-5T>A
 dbSNP gnomAD v3 gnomAD v4
19g.38500816T>CCA2584900552RYR1c.7445-5T>C (n.7445-5T>C)
c.7442-5T>C (n.7442-5T>C)
c.897-5T>C
n.7528-5T>C
 dbSNP gnomAD v4
19g.38500816T>GCA2584900553RYR1c.7445-5T>G (n.7445-5T>G)
c.7442-5T>G (n.7442-5T>G)
c.897-5T>G
n.7528-5T>G
 ClinVar gnomAD v4
19g.38500816T=CA2335053452RYR1c.7445-5T= (n.7445-5T=)
c.7442-5T= (n.7442-5T=)
c.897-5T=
n.7528-5T=
19g.38500818C>TCA082462RYR1c.7445-3C>T (n.7445-3C>T)
c.7442-3C>T (n.7442-3C>T)
c.897-3C>T
n.7528-3C>T
 COSMIC
19g.38500819A>CCA405670216RYR1c.7445-2A>C (n.7445-2A>C)
c.7442-2A>C (n.7442-2A>C)
c.897-2A>C
n.7528-2A>C
 gnomAD v4
19g.38500819A>GCA405670217RYR1c.7445-2A>G (n.7445-2A>G)
c.7442-2A>G (n.7442-2A>G)
c.897-2A>G
n.7528-2A>G
19g.38500819A>TCA405670218RYR1c.7445-2A>T (n.7445-2A>T)
c.7442-2A>T (n.7442-2A>T)
c.897-2A>T
n.7528-2A>T
19g.38500820G>ACA405670219RYR1c.7445-1G>A (n.7445-1G>A)
c.7442-1G>A (n.7442-1G>A)
c.897-1G>A
n.7528-1G>A
 gnomAD v4 COSMIC
19g.38500820G>CCA405670220RYR1c.7445-1G>C (n.7445-1G>C)
c.7442-1G>C (n.7442-1G>C)
c.897-1G>C
n.7528-1G>C
 gnomAD v3 gnomAD v4
19g.38500820G>TCA405670221RYR1c.7445-1G>T (n.7445-1G>T)
c.7442-1G>T (n.7442-1G>T)
c.897-1G>T
n.7528-1G>T
19g.38500821A=CA2335053453RYR1c.7445A= (p.Asp2482=)
c.7442A= (p.Asp2481=)
c.897A=
n.7528A=
19g.38500821A>CCA405670222RYR1c.7445A>C (p.Asp2482Ala)
c.7442A>C (p.Asp2481Ala)
c.897A>C
n.7528A>C
19g.38500821A>GCA069694RYR1c.7445A>G (p.Asp2482Gly)
c.7442A>G (p.Asp2481Gly)
c.897A>G
n.7528A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38500821A>TCA405670223RYR1c.7445A>T (p.Asp2482Val)
c.7442A>T (p.Asp2481Val)
c.897A>T
n.7528A>T
 gnomAD v4
19g.38500822T>ACA405670224RYR1c.7446T>A (p.Asp2482Glu)
c.7443T>A (p.Asp2481Glu)
c.898T>A
n.7529T>A
 gnomAD v4
19g.38500822T>CCA069698RYR1c.7446T>C (p.Asp2482=)
c.7443T>C (p.Asp2481=)
c.898T>C
n.7529T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38500822T>GCA405670225RYR1c.7446T>G (p.Asp2482Glu)
c.7443T>G (p.Asp2481Glu)
c.898T>G
n.7529T>G
19g.38500822T=CA2335053454RYR1c.7446T= (p.Asp2482=)
c.7443T= (p.Asp2481=)
c.898T=
n.7529T=
19g.38500823G>ACA082453RYR1c.7447G>A (p.Gly2483Arg)
c.7444G>A (p.Gly2482Arg)
c.899G>A
n.7530G>A
19g.38500823G>CCA405670226RYR1c.7447G>C (p.Gly2483Arg)
c.7444G>C (p.Gly2482Arg)
c.899G>C
n.7530G>C
19g.38500823G>TCA405670227RYR1c.7447G>T (p.Gly2483Trp)
c.7444G>T (p.Gly2482Trp)
c.899G>T
n.7530G>T
 gnomAD v3 gnomAD v4
19g.38500824G>ACA405670228RYR1c.7448G>A (p.Gly2483Glu)
c.7445G>A (p.Gly2482Glu)
c.900G>A
n.7531G>A
 dbSNP gnomAD v3 gnomAD v4
19g.38500824G>CCA405670229RYR1c.7448G>C (p.Gly2483Ala)
c.7445G>C (p.Gly2482Ala)
c.900G>C
n.7531G>C
19g.38500824G=CA2335053455RYR1c.7448G= (p.Gly2483=)
c.7445G= (p.Gly2482=)
c.900G=
n.7531G=
19g.38500824G>TCA405670230RYR1c.7448G>T (p.Gly2483Val)
c.7445G>T (p.Gly2482Val)
c.900G>T
n.7531G>T
19g.38500825G>ACA507353995RYR1c.7449G>A (p.Gly2483=)
c.7446G>A (p.Gly2482=)
c.901G>A
n.7532G>A
19g.38500825G>CCA507353996RYR1c.7449G>C (p.Gly2483=)
c.7446G>C (p.Gly2482=)
c.901G>C
n.7532G>C
19g.38500825G>TCA507353997RYR1c.7449G>T (p.Gly2483=)
c.7446G>T (p.Gly2482=)
c.901G>T
n.7532G>T
19g.38500826G>ACA405670231RYR1c.7450G>A (p.Ala2484Thr)
c.7447G>A (p.Ala2483Thr)
c.902G>A
n.7533G>A
 dbSNP
19g.38500826G>CCA405670232RYR1c.7450G>C (p.Ala2484Pro)
c.7447G>C (p.Ala2483Pro)
c.902G>C
n.7533G>C
19g.38500826G=CA2335053456RYR1c.7450G= (p.Ala2484=)
c.7447G= (p.Ala2483=)
c.902G=
n.7533G=
19g.38500826G>TCA405670233RYR1c.7450G>T (p.Ala2484Ser)
c.7447G>T (p.Ala2483Ser)
c.902G>T
n.7533G>T
 ClinVar
19g.38500827C>ACA405670234RYR1c.7451C>A (p.Ala2484Asp)
c.7448C>A (p.Ala2483Asp)
c.903C>A
n.7534C>A
19g.38500827C>GCA405670235RYR1c.7451C>G (p.Ala2484Gly)
c.7448C>G (p.Ala2483Gly)
c.903C>G
n.7534C>G
19g.38500827C>TCA405670236RYR1c.7451C>T (p.Ala2484Val)
c.7448C>T (p.Ala2483Val)
c.903C>T
n.7534C>T
 ClinVar gnomAD v4
19g.38500828T>ACA507353998RYR1c.7452T>A (p.Ala2484=)
c.7449T>A (p.Ala2483=)
c.904T>A
n.7535T>A
19g.38500828T>CCA507353999RYR1c.7452T>C (p.Ala2484=)
c.7449T>C (p.Ala2483=)
c.904T>C
n.7535T>C
19g.38500828T>GCA507354000RYR1c.7452T>G (p.Ala2484=)
c.7449T>G (p.Ala2483=)
c.904T>G
n.7535T>G
 gnomAD v4
19g.38500829C>ACA405670237RYR1c.7453C>A (p.Leu2485Met)
c.7450C>A (p.Leu2484Met)
c.905C>A
n.7536C>A
19g.38500829C=CA2335053457RYR1c.7453C= (p.Leu2485=)
c.7450C= (p.Leu2484=)
c.905C=
n.7536C=
19g.38500829C>GCA405670238RYR1c.7453C>G (p.Leu2485Val)
c.7450C>G (p.Leu2484Val)
c.905C>G
n.7536C>G
19g.38500829C>TCA507354001RYR1c.7453C>T (p.Leu2485=)
c.7450C>T (p.Leu2484=)
c.905C>T
n.7536C>T
 dbSNP
19g.38500830T>ACA405670241RYR1c.7454T>A (p.Leu2485Gln)
c.7451T>A (p.Leu2484Gln)
c.906T>A
n.7537T>A
19g.38500830T>CCA405670240RYR1c.7454T>C (p.Leu2485Pro)
c.7451T>C (p.Leu2484Pro)
c.906T>C
n.7537T>C
19g.38500830T>GCA405670239RYR1c.7454T>G (p.Leu2485Arg)
c.7451T>G (p.Leu2484Arg)
c.906T>G
n.7537T>G
19g.38500831G>ACA507354002RYR1c.7455G>A (p.Leu2485=)
c.7452G>A (p.Leu2484=)
c.907G>A
n.7538G>A
 dbSNP gnomAD v4
19g.38500831G>CCA507354003RYR1c.7455G>C (p.Leu2485=)
c.7452G>C (p.Leu2484=)
c.907G>C
n.7538G>C
19g.38500831G=CA2335053458RYR1c.7455G= (p.Leu2485=)
c.7452G= (p.Leu2484=)
c.907G=
n.7538G=
19g.38500831G>TCA507354004RYR1c.7455G>T (p.Leu2485=)
c.7452G>T (p.Leu2484=)
c.907G>T
n.7538G>T
19g.38500832G>ACA082452RYR1c.7456G>A (p.Val2486Met)
c.7453G>A (p.Val2485Met)
c.908G>A
n.7539G>A
 dbSNP
19g.38500832G>CCA405670242RYR1c.7456G>C (p.Val2486Leu)
c.7453G>C (p.Val2485Leu)
c.908G>C
n.7539G>C
19g.38500832G>TCA405670243RYR1c.7456G>T (p.Val2486Leu)
c.7453G>T (p.Val2485Leu)
c.908G>T
n.7539G>T
19g.38500833T>ACA405670244RYR1c.7457T>A (p.Val2486Glu)
c.7454T>A (p.Val2485Glu)
c.909T>A
n.7540T>A
19g.38500833T>CCA405670245RYR1c.7457T>C (p.Val2486Ala)
c.7454T>C (p.Val2485Ala)
c.909T>C
n.7540T>C
19g.38500833T>GCA405670246RYR1c.7457T>G (p.Val2486Gly)
c.7454T>G (p.Val2485Gly)
c.909T>G
n.7540T>G
 dbSNP
19g.38500833T=CA2335053459RYR1c.7457T= (p.Val2486=)
c.7454T= (p.Val2485=)
c.909T=
n.7540T=
19g.38500834G>ACA507354005RYR1c.7458G>A (p.Val2486=)
c.7455G>A (p.Val2485=)
c.910G>A
n.7541G>A
 dbSNP gnomAD v3 gnomAD v4
19g.38500834G>CCA507354006RYR1c.7458G>C (p.Val2486=)
c.7455G>C (p.Val2485=)
c.910G>C
n.7541G>C
19g.38500834G=CA2335053461RYR1c.7458G= (p.Val2486=)
c.7455G= (p.Val2485=)
c.910G=
n.7541G=
19g.38500834G>TCA507354007RYR1c.7458G>T (p.Val2486=)
c.7455G>T (p.Val2485=)
c.910G>T
n.7541G>T
19g.38500834_38500847delinsGCAGCCAAAGATGTCA2335053460RYR1c.7458_7471delinsGCAGCCAAAGATGT (p.Val2486=)
c.7455_7468delinsGCAGCCAAAGATGT (p.Val2485=)
c.910_923delinsGCAGCCAAAGATGT
n.7541_7554delinsGCAGCCAAAGATGT
19g.38500835C>ACA069702RYR1c.7459C>A (p.Gln2487Lys)
c.7456C>A (p.Gln2486Lys)
c.911C>A
n.7542C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38500835C=CA2335053462RYR1c.7459C= (p.Gln2487=)
c.7456C= (p.Gln2486=)
c.911C=
n.7542C=
19g.38500835C>GCA405670247RYR1c.7459C>G (p.Gln2487Glu)
c.7456C>G (p.Gln2486Glu)
c.911C>G
n.7542C>G
 ClinVar dbSNP
19g.38500835C>TCA405670248RYR1c.7459C>T (p.Gln2487Ter)
c.7456C>T (p.Gln2486Ter)
c.911C>T
n.7542C>T
 gnomAD v4
19g.38500839_38500851delCA024801RYR1c.7463_7475del (p.Pro2488HisfsTer?)
c.7460_7472del (p.Pro2487HisfsTer?)
c.915_927del
n.7546_7558del
 ClinVar dbSNP
19g.38500836A>CCA405670249RYR1c.7460A>C (p.Gln2487Pro)
c.7457A>C (p.Gln2486Pro)
c.912A>C
n.7543A>C
19g.38500836A>GCA405670250RYR1c.7460A>G (p.Gln2487Arg)
c.7457A>G (p.Gln2486Arg)
c.912A>G
n.7543A>G
19g.38500836A>TCA405670251RYR1c.7460A>T (p.Gln2487Leu)
c.7457A>T (p.Gln2486Leu)
c.912A>T
n.7543A>T
19g.38500837G>ACA507354008RYR1c.7461G>A (p.Gln2487=)
c.7458G>A (p.Gln2486=)
c.913G>A
n.7544G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38500837G>CCA405670252RYR1c.7461G>C (p.Gln2487His)
c.7458G>C (p.Gln2486His)
c.913G>C
n.7544G>C
19g.38500837G=CA2335053463RYR1c.7461G= (p.Gln2487=)
c.7458G= (p.Gln2486=)
c.913G=
n.7544G=
19g.38500837G>TCA069706RYR1c.7461G>T (p.Gln2487His)
c.7458G>T (p.Gln2486His)
c.913G>T
n.7544G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38500838C>ACA082465RYR1c.7462C>A (p.Pro2488Thr)
c.7459C>A (p.Pro2487Thr)
c.914C>A
n.7545C>A
19g.38500838C>GCA405670253RYR1c.7462C>G (p.Pro2488Ala)
c.7459C>G (p.Pro2487Ala)
c.914C>G
n.7545C>G
19g.38500838C>TCA405670254RYR1c.7462C>T (p.Pro2488Ser)
c.7459C>T (p.Pro2487Ser)
c.914C>T
n.7545C>T
 gnomAD v4
19g.38500839C>ACA405670255RYR1c.7463C>A (p.Pro2488Gln)
c.7460C>A (p.Pro2487Gln)
c.915C>A
n.7546C>A
19g.38500839C>GCA405670256RYR1c.7463C>G (p.Pro2488Arg)
c.7460C>G (p.Pro2487Arg)
c.915C>G
n.7546C>G
 gnomAD v4
19g.38500839C>TCA405670257RYR1c.7463C>T (p.Pro2488Leu)
c.7460C>T (p.Pro2487Leu)
c.915C>T
n.7546C>T
19g.38500840A>CCA507354010RYR1c.7464A>C (p.Pro2488=)
c.7461A>C (p.Pro2487=)
c.916A>C
n.7547A>C
19g.38500840A>GCA507354011RYR1c.7464A>G (p.Pro2488=)
c.7461A>G (p.Pro2487=)
c.916A>G
n.7547A>G
19g.38500840A>TCA507354009RYR1c.7464A>T (p.Pro2488=)
c.7461A>T (p.Pro2487=)
c.916A>T
n.7547A>T
19g.38500841A>CCA405670258RYR1c.7465A>C (p.Lys2489Gln)
c.7462A>C (p.Lys2488Gln)
c.917A>C
n.7548A>C
19g.38500841A>GCA405670259RYR1c.7465A>G (p.Lys2489Glu)
c.7462A>G (p.Lys2488Glu)
c.917A>G
n.7548A>G
19g.38500841A>TCA405670260RYR1c.7465A>T (p.Lys2489Ter)
c.7462A>T (p.Lys2488Ter)
c.917A>T
n.7548A>T
19g.38500842A>CCA405670261RYR1c.7466A>C (p.Lys2489Thr)
c.7463A>C (p.Lys2488Thr)
c.918A>C
n.7549A>C
19g.38500842A>GCA405670262RYR1c.7466A>G (p.Lys2489Arg)
c.7463A>G (p.Lys2488Arg)
c.918A>G
n.7549A>G
19g.38500842A>TCA405670263RYR1c.7466A>T (p.Lys2489Met)
c.7463A>T (p.Lys2488Met)
c.918A>T
n.7549A>T
19g.38500843G>ACA507354012RYR1c.7467G>A (p.Lys2489=)
c.7464G>A (p.Lys2488=)
c.919G>A
n.7550G>A
 ClinVar
19g.38500843G>CCA405670265RYR1c.7467G>C (p.Lys2489Asn)
c.7464G>C (p.Lys2488Asn)
c.919G>C
n.7550G>C
 dbSNP
19g.38500843G>TCA405670264RYR1c.7467G>T (p.Lys2489Asn)
c.7464G>T (p.Lys2488Asn)
c.919G>T
n.7550G>T
 COSMIC
19g.38500844A>CCA405670266RYR1c.7468A>C (p.Met2490Leu)
c.7465A>C (p.Met2489Leu)
c.920A>C
n.7551A>C
19g.38500844A>GCA405670267RYR1c.7468A>G (p.Met2490Val)
c.7465A>G (p.Met2489Val)
c.920A>G
n.7551A>G
 COSMIC
19g.38500844A>TCA405670268RYR1c.7468A>T (p.Met2490Leu)
c.7465A>T (p.Met2489Leu)
c.920A>T
n.7551A>T
19g.38500845T>ACA405670269RYR1c.7469T>A (p.Met2490Lys)
c.7466T>A (p.Met2489Lys)
c.921T>A
n.7552T>A
19g.38500845T>CCA405670270RYR1c.7469T>C (p.Met2490Thr)
c.7466T>C (p.Met2489Thr)
c.921T>C
n.7552T>C
19g.38500845T>GCA405670271RYR1c.7469T>G (p.Met2490Arg)
c.7466T>G (p.Met2489Arg)
c.921T>G
n.7552T>G
 dbSNP
19g.38500845T=CA2335053464RYR1c.7469T= (p.Met2490=)
c.7466T= (p.Met2489=)
c.921T=
n.7552T=
19g.38500846G>ACA405670274RYR1c.7470G>A (p.Met2490Ile)
c.7467G>A (p.Met2489Ile)
c.922G>A
n.7553G>A
19g.38500846G>CCA405670273RYR1c.7470G>C (p.Met2490Ile)
c.7467G>C (p.Met2489Ile)
c.922G>C
n.7553G>C
19g.38500846G>TCA405670272RYR1c.7470G>T (p.Met2490Ile)
c.7467G>T (p.Met2489Ile)
c.922G>T
n.7553G>T
19g.38500847T>ACA405670275RYR1c.7471T>A (p.Ser2491Thr)
c.7468T>A (p.Ser2490Thr)
c.923T>A
n.7554T>A
19g.38500847T>CCA405670276RYR1c.7471T>C (p.Ser2491Pro)
c.7468T>C (p.Ser2490Pro)
c.923T>C
n.7554T>C
19g.38500847T>GCA405670277RYR1c.7471T>G (p.Ser2491Ala)
c.7468T>G (p.Ser2490Ala)
c.923T>G
n.7554T>G
19g.38500848C>ACA405670278RYR1c.7472C>A (p.Ser2491Ter)
c.7469C>A (p.Ser2490Ter)
c.924C>A
n.7555C>A
19g.38500848C>GCA405670279RYR1c.7472C>G (p.Ser2491Ter)
c.7469C>G (p.Ser2490Ter)
c.924C>G
n.7555C>G
19g.38500848C>TCA405670280RYR1c.7472C>T (p.Ser2491Leu)
c.7469C>T (p.Ser2490Leu)
c.924C>T
n.7555C>T
19g.38500849A>CCA507354013RYR1c.7473A>C (p.Ser2491=)
c.7470A>C (p.Ser2490=)
c.925A>C
n.7556A>C
19g.38500849A>GCA507354014RYR1c.7473A>G (p.Ser2491=)
c.7470A>G (p.Ser2490=)
c.925A>G
n.7556A>G
19g.38500849A>TCA507354015RYR1c.7473A>T (p.Ser2491=)
c.7470A>T (p.Ser2490=)
c.925A>T
n.7556A>T
19g.38500850G>ACA405670281RYR1c.7474G>A (p.Ala2492Thr)
c.7471G>A (p.Ala2491Thr)
c.926G>A
n.7557G>A
 gnomAD v4
19g.38500850G>CCA405670283RYR1c.7474G>C (p.Ala2492Pro)
c.7471G>C (p.Ala2491Pro)
c.926G>C
n.7557G>C
19g.38500850G>TCA405670282RYR1c.7474G>T (p.Ala2492Ser)
c.7471G>T (p.Ala2491Ser)
c.926G>T
n.7557G>T
 gnomAD v4
19g.38500850_38500851insTCA2736030409RYR1c.7474_7475insT (p.Ala2492ValfsTer?)
c.7471_7472insT (p.Ala2491ValfsTer?)
c.926_927insT
n.7557_7558insT
 dbSNP
19g.38500851C>ACA405670284RYR1c.7475C>A (p.Ala2492Glu)
c.7472C>A (p.Ala2491Glu)
c.927C>A
n.7558C>A
19g.38500851C=CA2335053465RYR1c.7475C= (p.Ala2492=)
c.7472C= (p.Ala2491=)
c.927C=
n.7558C=
19g.38500851C>GCA405670285RYR1c.7475C>G (p.Ala2492Gly)
c.7472C>G (p.Ala2491Gly)
c.927C>G
n.7558C>G
19g.38500851C>TCA405670286RYR1c.7475C>T (p.Ala2492Val)
c.7472C>T (p.Ala2491Val)
c.927C>T
n.7558C>T
 dbSNP gnomAD v4
19g.38500852A=CA2335053466RYR1c.7476A= (p.Ala2492=)
c.7473A= (p.Ala2491=)
c.928A=
n.7559A=
19g.38500852A>CCA507354016RYR1c.7476A>C (p.Ala2492=)
c.7473A>C (p.Ala2491=)
c.928A>C
n.7559A>C
19g.38500852A>GCA082447RYR1c.7476A>G (p.Ala2492=)
c.7473A>G (p.Ala2491=)
c.928A>G
n.7559A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38500852A>TCA507354017RYR1c.7476A>T (p.Ala2492=)
c.7473A>T (p.Ala2491=)
c.928A>T
n.7559A>T
19g.38500853T>ACA405670287RYR1c.7477T>A (p.Ser2493Thr)
c.7474T>A (p.Ser2492Thr)
c.929T>A
n.7560T>A
 COSMIC
19g.38500853T>CCA405670288RYR1c.7477T>C (p.Ser2493Pro)
c.7474T>C (p.Ser2492Pro)
c.929T>C
n.7560T>C
19g.38500853T>GCA405670289RYR1c.7477T>G (p.Ser2493Ala)
c.7474T>G (p.Ser2492Ala)
c.929T>G
n.7560T>G
19g.38500853_38500854delinsTCCA2335053467RYR1c.7477_7478delinsTC (p.Ser2493=)
c.7474_7475delinsTC (p.Ser2492=)
c.929_930delinsTC
n.7560_7561delinsTC
19g.38500854C>ACA405670290RYR1c.7478C>A (p.Ser2493Tyr)
c.7475C>A (p.Ser2492Tyr)
c.930C>A
n.7561C>A
19g.38500854C>GCA405670291RYR1c.7478C>G (p.Ser2493Cys)
c.7475C>G (p.Ser2492Cys)
c.930C>G
n.7561C>G
19g.38500854C>TCA405670292RYR1c.7478C>T (p.Ser2493Phe)
c.7475C>T (p.Ser2492Phe)
c.930C>T
n.7561C>T
 COSMIC
19g.38500855delCA995716238RYR1c.7479del (p.Phe2494SerfsTer?)
c.7476del (p.Phe2493SerfsTer?)
c.931del
n.7562del
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38500855C>ACA507354018RYR1c.7479C>A (p.Ser2493=)
c.7476C>A (p.Ser2492=)
c.931C>A
n.7562C>A
19g.38500855C=CA2335053468RYR1c.7479C= (p.Ser2493=)
c.7476C= (p.Ser2492=)
c.931C=
n.7562C=
19g.38500855C>GCA507354019RYR1c.7479C>G (p.Ser2493=)
c.7476C>G (p.Ser2492=)
c.931C>G
n.7562C>G
 ClinVar gnomAD v4
19g.38500855C>TCA507354020RYR1c.7479C>T (p.Ser2493=)
c.7476C>T (p.Ser2492=)
c.931C>T
n.7562C>T
 dbSNP
19g.38500856T>ACA069709RYR1c.7480T>A (p.Phe2494Ile)
c.7477T>A (p.Phe2493Ile)
c.932T>A
n.7563T>A
 dbSNP ExAC gnomAD v2
19g.38500856T>CCA405670293RYR1c.7480T>C (p.Phe2494Leu)
c.7477T>C (p.Phe2493Leu)
c.932T>C
n.7563T>C
19g.38500856T>GCA405670294RYR1c.7480T>G (p.Phe2494Val)
c.7477T>G (p.Phe2493Val)
c.932T>G
n.7563T>G
19g.38500856T=CA2335053470RYR1c.7480T= (p.Phe2494=)
c.7477T= (p.Phe2493=)
c.932T=
n.7563T=
19g.38500856_38500859delinsTTCGCA2335053469RYR1c.7480_7483delinsTTCG (p.Phe2494=)
c.7477_7480delinsTTCG (p.Phe2493=)
c.932_935delinsTTCG
n.7563_7566delinsTTCG
19g.38500857T>ACA405670295RYR1c.7481T>A (p.Phe2494Tyr)
c.7478T>A (p.Phe2493Tyr)
c.933T>A
n.7564T>A
19g.38500857T>CCA405670296RYR1c.7481T>C (p.Phe2494Ser)
c.7478T>C (p.Phe2493Ser)
c.933T>C
n.7564T>C
19g.38500857T>GCA082448RYR1c.7481T>G (p.Phe2494Cys)
c.7478T>G (p.Phe2493Cys)
c.933T>G
n.7564T>G
19g.38500857_38500859delinsTCGCA2335053472RYR1c.7481_7483delinsTCG (p.Phe2494=)
c.7478_7480delinsTCG (p.Phe2493=)
c.933_935delinsTCG
n.7564_7566delinsTCG
19g.38500858_38500860delCA2335053471RYR1c.7482_7484del (p.Phe2494_Val2495delinsLeu)
c.7479_7481del (p.Phe2493_Val2494delinsLeu)
c.934_936del
n.7565_7567del
 dbSNP
19g.38500858C>ACA405670297RYR1c.7482C>A (p.Phe2494Leu)
c.7479C>A (p.Phe2493Leu)
c.934C>A
n.7565C>A
19g.38500858C=CA2335053473RYR1c.7482C= (p.Phe2494=)
c.7479C= (p.Phe2493=)
c.934C=
n.7565C=
19g.38500858C>GCA069713RYR1c.7482C>G (p.Phe2494Leu)
c.7479C>G (p.Phe2493Leu)
c.934C>G
n.7565C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38500858C>TCA069717RYR1c.7482C>T (p.Phe2494=)
c.7479C>T (p.Phe2493=)
c.934C>T
n.7565C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38500858_38500859delCA995716251RYR1c.7482_7483del (p.Val2495AlafsTer?)
c.7479_7480del (p.Val2494AlafsTer?)
c.934_935del
n.7565_7566del
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38500859G>ACA082467RYR1c.7483G>A (p.Val2495Met)
c.7480G>A (p.Val2494Met)
c.935G>A
n.7566G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38500859G>CCA405670298RYR1c.7483G>C (p.Val2495Leu)
c.7480G>C (p.Val2494Leu)
c.935G>C
n.7566G>C
 dbSNP gnomAD v4
19g.38500859G=CA2335053474RYR1c.7483G= (p.Val2495=)
c.7480G= (p.Val2494=)
c.935G=
n.7566G=
19g.38500859G>TCA405670299RYR1c.7483G>T (p.Val2495Leu)
c.7480G>T (p.Val2494Leu)
c.935G>T
n.7566G>T
19g.38500860T>ACA405670300RYR1c.7484T>A (p.Val2495Glu)
c.7481T>A (p.Val2494Glu)
c.936T>A
n.7567T>A
19g.38500860T>CCA405670301RYR1c.7484T>C (p.Val2495Ala)
c.7481T>C (p.Val2494Ala)
c.936T>C
n.7567T>C
19g.38500860T>GCA405670302RYR1c.7484T>G (p.Val2495Gly)
c.7481T>G (p.Val2494Gly)
c.936T>G
n.7567T>G
19g.38500861G>ACA507354027RYR1c.7485G>A (p.Val2495=)
c.7482G>A (p.Val2494=)
c.937G>A
n.7568G>A
19g.38500861G>CCA507354028RYR1c.7485G>C (p.Val2495=)
c.7482G>C (p.Val2494=)
c.937G>C
n.7568G>C
19g.38500861G>TCA507354029RYR1c.7485G>T (p.Val2495=)
c.7482G>T (p.Val2494=)
c.937G>T
n.7568G>T
19g.38500862C>ACA405670303RYR1c.7486C>A (p.Pro2496Thr)
c.7483C>A (p.Pro2495Thr)
c.938C>A
n.7569C>A
19g.38500862C>GCA405670304RYR1c.7486C>G (p.Pro2496Ala)
c.7483C>G (p.Pro2495Ala)
c.938C>G
n.7569C>G
19g.38500862C>TCA405670305RYR1c.7486C>T (p.Pro2496Ser)
c.7483C>T (p.Pro2495Ser)
c.938C>T
n.7569C>T
 ClinVar
19g.38500863C>ACA405670306RYR1c.7487C>A (p.Pro2496Gln)
c.7484C>A (p.Pro2495Gln)
c.939C>A
n.7570C>A
19g.38500863C=CA2335053475RYR1c.7487C= (p.Pro2496=)
c.7484C= (p.Pro2495=)
c.939C=
n.7570C=
19g.38500863C>GCA024804RYR1c.7487C>G (p.Pro2496Arg)
c.7484C>G (p.Pro2495Arg)
c.939C>G
n.7570C>G
 ClinVar dbSNP gnomAD v4
19g.38500863C>TCA024807RYR1c.7487C>T (p.Pro2496Leu)
c.7484C>T (p.Pro2495Leu)
c.939C>T
n.7570C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38500864G>ACA069727RYR1c.7488G>A (p.Pro2496=)
c.7485G>A (p.Pro2495=)
c.940G>A
n.7571G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38500864G>CCA507354032RYR1c.7488G>C (p.Pro2496=)
c.7485G>C (p.Pro2495=)
c.940G>C
n.7571G>C
19g.38500864G=CA2335053476RYR1c.7488G= (p.Pro2496=)
c.7485G= (p.Pro2495=)
c.940G=
n.7571G=
19g.38500864G>TCA507354033RYR1c.7488G>T (p.Pro2496=)
c.7485G>T (p.Pro2495=)
c.940G>T
n.7571G>T
 gnomAD v4
19g.38500865G>ACA405670307RYR1c.7489G>A (p.Asp2497Asn)
c.7486G>A (p.Asp2496Asn)
c.941G>A
n.7572G>A
 dbSNP gnomAD v2 gnomAD v4
19g.38500865G>CCA405670308RYR1c.7489G>C (p.Asp2497His)
c.7486G>C (p.Asp2496His)
c.941G>C
n.7572G>C
 ClinVar dbSNP
19g.38500865G=CA2335053477RYR1c.7489G= (p.Asp2497=)
c.7486G= (p.Asp2496=)
c.941G=
n.7572G=
19g.38500865G>TCA405670309RYR1c.7489G>T (p.Asp2497Tyr)
c.7486G>T (p.Asp2496Tyr)
c.941G>T
n.7572G>T

Number of alleles fetched