Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38502425_38502446delCA2736032255RYR1c.7615-82_7615-61del (n.7615-82_7615-61del)
c.7612-82_7612-61del (n.7612-82_7612-61del)
c.1067-82_1067-61del
n.7698-82_7698-61del
 dbSNP
19g.38502443A>GCA2576770948RYR1c.7615-64A>G (n.7615-64A>G)
c.7612-64A>G (n.7612-64A>G)
c.1067-64A>G
n.7698-64A>G
 gnomAD v4
19g.38502444G>ACA2584900453RYR1c.7615-63G>A (n.7615-63G>A)
c.7612-63G>A (n.7612-63G>A)
c.1067-63G>A
n.7698-63G>A
 gnomAD v4
19g.38502444G>TCA2584900454RYR1c.7615-63G>T (n.7615-63G>T)
c.7612-63G>T (n.7612-63G>T)
c.1067-63G>T
n.7698-63G>T
 gnomAD v4
19g.38502445A=CA2335054316RYR1c.7615-62A= (n.7615-62A=)
c.7612-62A= (n.7612-62A=)
c.1067-62A=
n.7698-62A=
19g.38502445A>GCA308111674RYR1c.7615-62A>G (n.7615-62A>G)
c.7612-62A>G (n.7612-62A>G)
c.1067-62A>G
n.7698-62A>G
 dbSNP gnomAD v4
19g.38502446C>ACA2576770949RYR1c.7615-61C>A (n.7615-61C>A)
c.7612-61C>A (n.7612-61C>A)
c.1067-61C>A
n.7698-61C>A
 gnomAD v4
19g.38502446C>TCA2584900457RYR1c.7615-61C>T (n.7615-61C>T)
c.7612-61C>T (n.7612-61C>T)
c.1067-61C>T
n.7698-61C>T
 gnomAD v4
19g.38502447A=CA2335054317RYR1c.7615-60A= (n.7615-60A=)
c.7612-60A= (n.7612-60A=)
c.1067-60A=
n.7698-60A=
19g.38502447A>GCA995716954RYR1c.7615-60A>G (n.7615-60A>G)
c.7612-60A>G (n.7612-60A>G)
c.1067-60A>G
n.7698-60A>G
 dbSNP gnomAD v3 gnomAD v4
19g.38502447A>TCA2584900458RYR1c.7615-60A>T (n.7615-60A>T)
c.7612-60A>T (n.7612-60A>T)
c.1067-60A>T
n.7698-60A>T
 gnomAD v4
19g.38502448G>ACA308111677RYR1c.7615-59G>A (n.7615-59G>A)
c.7612-59G>A (n.7612-59G>A)
c.1067-59G>A
n.7698-59G>A
 dbSNP gnomAD v3 gnomAD v4
19g.38502448G=CA2335054318RYR1c.7615-59G= (n.7615-59G=)
c.7612-59G= (n.7612-59G=)
c.1067-59G=
n.7698-59G=
19g.38502448G>TCA2584900460RYR1c.7615-59G>T (n.7615-59G>T)
c.7612-59G>T (n.7612-59G>T)
c.1067-59G>T
n.7698-59G>T
 gnomAD v4
19g.38502449G>ACA2584900461RYR1c.7615-58G>A (n.7615-58G>A)
c.7612-58G>A (n.7612-58G>A)
c.1067-58G>A
n.7698-58G>A
 gnomAD v4
19g.38502449G>TCA2584900462RYR1c.7615-58G>T (n.7615-58G>T)
c.7612-58G>T (n.7612-58G>T)
c.1067-58G>T
n.7698-58G>T
 gnomAD v4
19g.38502449_38502450delinsGTCA2335054319RYR1c.7615-58_7615-57delinsGT (n.7615-58_7615-57delinsGT)
c.7612-58_7612-57delinsGT (n.7612-58_7612-57delinsGT)
c.1067-58_1067-57delinsGT
n.7698-58_7698-57delinsGT
19g.38502450delCA308111693RYR1c.7615-57del (n.7615-57del)
c.7612-57del (n.7612-57del)
c.1067-57del
n.7698-57del
 dbSNP gnomAD v3 gnomAD v4
19g.38502451G>ACA2584900464RYR1c.7615-56G>A (n.7615-56G>A)
c.7612-56G>A (n.7612-56G>A)
c.1067-56G>A
n.7698-56G>A
 gnomAD v4
19g.38502451G>TCA2584900465RYR1c.7615-56G>T (n.7615-56G>T)
c.7612-56G>T (n.7612-56G>T)
c.1067-56G>T
n.7698-56G>T
 gnomAD v4
19g.38502452C>ACA2584900466RYR1c.7615-55C>A (n.7615-55C>A)
c.7612-55C>A (n.7612-55C>A)
c.1067-55C>A
n.7698-55C>A
 gnomAD v4
19g.38502452C=CA2335054320RYR1c.7615-55C= (n.7615-55C=)
c.7612-55C= (n.7612-55C=)
c.1067-55C=
n.7698-55C=
19g.38502452C>TCA882053449RYR1c.7615-55C>T (n.7615-55C>T)
c.7612-55C>T (n.7612-55C>T)
c.1067-55C>T
n.7698-55C>T
 dbSNP gnomAD v3 gnomAD v4
19g.38502453C>ACA2584900468RYR1c.7615-54C>A (n.7615-54C>A)
c.7612-54C>A (n.7612-54C>A)
c.1067-54C>A
n.7698-54C>A
 gnomAD v4
19g.38502453C=CA2335054321RYR1c.7615-54C= (n.7615-54C=)
c.7612-54C= (n.7612-54C=)
c.1067-54C=
n.7698-54C=
19g.38502453C>TCA308111697RYR1c.7615-54C>T (n.7615-54C>T)
c.7612-54C>T (n.7612-54C>T)
c.1067-54C>T
n.7698-54C>T
 dbSNP gnomAD v3 gnomAD v4
19g.38502454A>GCA2584900471RYR1c.7615-53A>G (n.7615-53A>G)
c.7612-53A>G (n.7612-53A>G)
c.1067-53A>G
n.7698-53A>G
 dbSNP gnomAD v4
19g.38502454A>TCA2584900470RYR1c.7615-53A>T (n.7615-53A>T)
c.7612-53A>T (n.7612-53A>T)
c.1067-53A>T
n.7698-53A>T
 gnomAD v4
19g.38502454dupCA882053453RYR1c.7615-53dup (n.7615-53dup)
c.7612-53dup (n.7612-53dup)
c.1067-53dup
n.7698-53dup
 dbSNP
19g.38502455G>ACA882053457RYR1c.7615-52G>A (n.7615-52G>A)
c.7612-52G>A (n.7612-52G>A)
c.1067-52G>A
n.7698-52G>A
 dbSNP
19g.38502455G>CCA2584900473RYR1c.7615-52G>C (n.7615-52G>C)
c.7612-52G>C (n.7612-52G>C)
c.1067-52G>C
n.7698-52G>C
 gnomAD v4
19g.38502455G=CA2335054322RYR1c.7615-52G= (n.7615-52G=)
c.7612-52G= (n.7612-52G=)
c.1067-52G=
n.7698-52G=
19g.38502455G>TCA2584900474RYR1c.7615-52G>T (n.7615-52G>T)
c.7612-52G>T (n.7612-52G>T)
c.1067-52G>T
n.7698-52G>T
 gnomAD v4
19g.38502456A>GCA2584900475RYR1c.7615-51A>G (n.7615-51A>G)
c.7612-51A>G (n.7612-51A>G)
c.1067-51A>G
n.7698-51A>G
 gnomAD v4
19g.38502457G>ACA2335054324RYR1c.7615-50G>A (n.7615-50G>A)
c.7612-50G>A (n.7612-50G>A)
c.1067-50G>A
n.7698-50G>A
 dbSNP gnomAD v4
19g.38502457G=CA2335054323RYR1c.7615-50G= (n.7615-50G=)
c.7612-50G= (n.7612-50G=)
c.1067-50G=
n.7698-50G=
19g.38502457G>TCA2584900476RYR1c.7615-50G>T (n.7615-50G>T)
c.7612-50G>T (n.7612-50G>T)
c.1067-50G>T
n.7698-50G>T
 gnomAD v4
19g.38502458C>ACA2584900478RYR1c.7615-49C>A (n.7615-49C>A)
c.7612-49C>A (n.7612-49C>A)
c.1067-49C>A
n.7698-49C>A
 gnomAD v4
19g.38502458C=CA2335054325RYR1c.7615-49C= (n.7615-49C=)
c.7612-49C= (n.7612-49C=)
c.1067-49C=
n.7698-49C=
19g.38502458C>TCA882053459RYR1c.7615-49C>T (n.7615-49C>T)
c.7612-49C>T (n.7612-49C>T)
c.1067-49C>T
n.7698-49C>T
 dbSNP gnomAD v3 gnomAD v4
19g.38502459A>GCA2584900480RYR1c.7615-48A>G (n.7615-48A>G)
c.7612-48A>G (n.7612-48A>G)
c.1067-48A>G
n.7698-48A>G
 gnomAD v4
19g.38502460G>ACA2576770950RYR1c.7615-47G>A (n.7615-47G>A)
c.7612-47G>A (n.7612-47G>A)
c.1067-47G>A
n.7698-47G>A
 gnomAD v4
19g.38502460G=CA2335054326RYR1c.7615-47G= (n.7615-47G=)
c.7612-47G= (n.7612-47G=)
c.1067-47G=
n.7698-47G=
19g.38502460G>TCA2584900482RYR1c.7615-47G>T (n.7615-47G>T)
c.7612-47G>T (n.7612-47G>T)
c.1067-47G>T
n.7698-47G>T
 gnomAD v4
19g.38502461C>ACA2584900487RYR1c.7615-46C>A (n.7615-46C>A)
c.7612-46C>A (n.7612-46C>A)
c.1067-46C>A
n.7698-46C>A
 gnomAD v4
19g.38502461C>TCA2576770951RYR1c.7615-46C>T (n.7615-46C>T)
c.7612-46C>T (n.7612-46C>T)
c.1067-46C>T
n.7698-46C>T
 gnomAD v4
19g.38502464dupCA069858RYR1c.7615-43dup (n.7615-43dup)
c.7612-43dup (n.7612-43dup)
c.1067-43dup
n.7698-43dup
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502464delCA2584900486RYR1c.7615-43del (n.7615-43del)
c.7612-43del (n.7612-43del)
c.1067-43del
n.7698-43del
 gnomAD v4
19g.38502480_38502481insACATCCCCAGGGGTGTGCAGCGGGCA2584900485RYR1c.7615-27_7615-26insACATCCCCAGGGGTGTGCAGCGGG (n.7615-27_7615-26insACATCCCCAGGGGTGTGCAGCGGG)
c.7612-27_7612-26insACATCCCCAGGGGTGTGCAGCGGG (n.7612-27_7612-26insACATCCCCAGGGGTGTGCAGCGGG)
c.1067-27_1067-26insACATCCCCAGGGGTGTGCAGCGGG
n.7698-27_7698-26insACATCCCCAGGGGTGTGCAGCGGG
 gnomAD v4
19g.38502462C>ACA2584900556RYR1c.7615-45C>A (n.7615-45C>A)
c.7612-45C>A (n.7612-45C>A)
c.1067-45C>A
n.7698-45C>A
 gnomAD v4
19g.38502462C>TCA2584900555RYR1c.7615-45C>T (n.7615-45C>T)
c.7612-45C>T (n.7612-45C>T)
c.1067-45C>T
n.7698-45C>T
 gnomAD v4
19g.38502463C>ACA2584900557RYR1c.7615-44C>A (n.7615-44C>A)
c.7612-44C>A (n.7612-44C>A)
c.1067-44C>A
n.7698-44C>A
 gnomAD v4
19g.38502463C=CA2335054327RYR1c.7615-44C= (n.7615-44C=)
c.7612-44C= (n.7612-44C=)
c.1067-44C=
n.7698-44C=
19g.38502463C>TCA633066598RYR1c.7615-44C>T (n.7615-44C>T)
c.7612-44C>T (n.7612-44C>T)
c.1067-44C>T
n.7698-44C>T
 dbSNP gnomAD v2 gnomAD v4
19g.38502464C>TCA2584900558RYR1c.7615-43C>T (n.7615-43C>T)
c.7612-43C>T (n.7612-43C>T)
c.1067-43C>T
n.7698-43C>T
 gnomAD v4
19g.38502465A>GCA2584900559RYR1c.7615-42A>G (n.7615-42A>G)
c.7612-42A>G (n.7612-42A>G)
c.1067-42A>G
n.7698-42A>G
 gnomAD v4
19g.38502466G>CCA2584900560RYR1c.7615-41G>C (n.7615-41G>C)
c.7612-41G>C (n.7612-41G>C)
c.1067-41G>C
n.7698-41G>C
 gnomAD v4
19g.38502466G=CA2335054328RYR1c.7615-41G= (n.7615-41G=)
c.7612-41G= (n.7612-41G=)
c.1067-41G=
n.7698-41G=
19g.38502466G>TCA069855RYR1c.7615-41G>T (n.7615-41G>T)
c.7612-41G>T (n.7612-41G>T)
c.1067-41G>T
n.7698-41G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502469delCA2584900561RYR1c.7615-38del (n.7615-38del)
c.7612-38del (n.7612-38del)
c.1067-38del
n.7698-38del
 gnomAD v4
19g.38502467G>ACA069853RYR1c.7615-40G>A (n.7615-40G>A)
c.7612-40G>A (n.7612-40G>A)
c.1067-40G>A
n.7698-40G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502467G>CCA882053467RYR1c.7615-40G>C (n.7615-40G>C)
c.7612-40G>C (n.7612-40G>C)
c.1067-40G>C
n.7698-40G>C
 dbSNP gnomAD v3 gnomAD v4
19g.38502467G=CA2335054329RYR1c.7615-40G= (n.7615-40G=)
c.7612-40G= (n.7612-40G=)
c.1067-40G=
n.7698-40G=
19g.38502467G>TCA2576770952RYR1c.7615-40G>T (n.7615-40G>T)
c.7612-40G>T (n.7612-40G>T)
c.1067-40G>T
n.7698-40G>T
 gnomAD v4
19g.38502468G>ACA069850RYR1c.7615-39G>A (n.7615-39G>A)
c.7612-39G>A (n.7612-39G>A)
c.1067-39G>A
n.7698-39G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502468G>CCA2584900562RYR1c.7615-39G>C (n.7615-39G>C)
c.7612-39G>C (n.7612-39G>C)
c.1067-39G>C
n.7698-39G>C
 gnomAD v4
19g.38502468G=CA2335054330RYR1c.7615-39G= (n.7615-39G=)
c.7612-39G= (n.7612-39G=)
c.1067-39G=
n.7698-39G=
19g.38502468G>TCA2584900563RYR1c.7615-39G>T (n.7615-39G>T)
c.7612-39G>T (n.7612-39G>T)
c.1067-39G>T
n.7698-39G>T
 gnomAD v4
19g.38502469G>ACA2584900564RYR1c.7615-38G>A (n.7615-38G>A)
c.7612-38G>A (n.7612-38G>A)
c.1067-38G>A
n.7698-38G>A
 gnomAD v4
19g.38502469G=CA2335054331RYR1c.7615-38G= (n.7615-38G=)
c.7612-38G= (n.7612-38G=)
c.1067-38G=
n.7698-38G=
19g.38502469G>TCA082506RYR1c.7615-38G>T (n.7615-38G>T)
c.7612-38G>T (n.7612-38G>T)
c.1067-38G>T
n.7698-38G>T
 dbSNP gnomAD v2 gnomAD v4
19g.38502470T>CCA2584900565RYR1c.7615-37T>C (n.7615-37T>C)
c.7612-37T>C (n.7612-37T>C)
c.1067-37T>C
n.7698-37T>C
 gnomAD v4
19g.38502470T>GCA2576770953RYR1c.7615-37T>G (n.7615-37T>G)
c.7612-37T>G (n.7612-37T>G)
c.1067-37T>G
n.7698-37T>G
 gnomAD v4
19g.38502471G>ACA082504RYR1c.7615-36G>A (n.7615-36G>A)
c.7612-36G>A (n.7612-36G>A)
c.1067-36G>A
n.7698-36G>A
19g.38502471G>TCA2576770954RYR1c.7615-36G>T (n.7615-36G>T)
c.7612-36G>T (n.7612-36G>T)
c.1067-36G>T
n.7698-36G>T
 gnomAD v4
19g.38502472T>ACA2576770955RYR1c.7615-35T>A (n.7615-35T>A)
c.7612-35T>A (n.7612-35T>A)
c.1067-35T>A
n.7698-35T>A
19g.38502472T>CCA995716961RYR1c.7615-35T>C (n.7615-35T>C)
c.7612-35T>C (n.7612-35T>C)
c.1067-35T>C
n.7698-35T>C
 dbSNP gnomAD v3 gnomAD v4
19g.38502472T=CA2335054332RYR1c.7615-35T= (n.7615-35T=)
c.7612-35T= (n.7612-35T=)
c.1067-35T=
n.7698-35T=
19g.38502473G>ACA2584900566RYR1c.7615-34G>A (n.7615-34G>A)
c.7612-34G>A (n.7612-34G>A)
c.1067-34G>A
n.7698-34G>A
 gnomAD v4
19g.38502473G>TCA2584900567RYR1c.7615-34G>T (n.7615-34G>T)
c.7612-34G>T (n.7612-34G>T)
c.1067-34G>T
n.7698-34G>T
 gnomAD v4
19g.38502474C>ACA2584900568RYR1c.7615-33C>A (n.7615-33C>A)
c.7612-33C>A (n.7612-33C>A)
c.1067-33C>A
n.7698-33C>A
 gnomAD v4
19g.38502474C>TCA2584900569RYR1c.7615-33C>T (n.7615-33C>T)
c.7612-33C>T (n.7612-33C>T)
c.1067-33C>T
n.7698-33C>T
 gnomAD v4
19g.38502475A>GCA2584900570RYR1c.7615-32A>G (n.7615-32A>G)
c.7612-32A>G (n.7612-32A>G)
c.1067-32A>G
n.7698-32A>G
 gnomAD v4
19g.38502475A>TCA2584900571RYR1c.7615-32A>T (n.7615-32A>T)
c.7612-32A>T (n.7612-32A>T)
c.1067-32A>T
n.7698-32A>T
 gnomAD v4
19g.38502476G>ACA2576770956RYR1c.7615-31G>A (n.7615-31G>A)
c.7612-31G>A (n.7612-31G>A)
c.1067-31G>A
n.7698-31G>A
 gnomAD v4
19g.38502476G>TCA2584900572RYR1c.7615-31G>T (n.7615-31G>T)
c.7612-31G>T (n.7612-31G>T)
c.1067-31G>T
n.7698-31G>T
 gnomAD v4
19g.38502477C>ACA2584900573RYR1c.7615-30C>A (n.7615-30C>A)
c.7612-30C>A (n.7612-30C>A)
c.1067-30C>A
n.7698-30C>A
 gnomAD v4
19g.38502477C=CA2335054333RYR1c.7615-30C= (n.7615-30C=)
c.7612-30C= (n.7612-30C=)
c.1067-30C=
n.7698-30C=
19g.38502477C>GCA2584900574RYR1c.7615-30C>G (n.7615-30C>G)
c.7612-30C>G (n.7612-30C>G)
c.1067-30C>G
n.7698-30C>G
 gnomAD v4
19g.38502477C>TCA308111712RYR1c.7615-30C>T (n.7615-30C>T)
c.7612-30C>T (n.7612-30C>T)
c.1067-30C>T
n.7698-30C>T
 dbSNP gnomAD v4
19g.38502478G>ACA069847RYR1c.7615-29G>A (n.7615-29G>A)
c.7612-29G>A (n.7612-29G>A)
c.1067-29G>A
n.7698-29G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502478G>CCA2576770957RYR1c.7615-29G>C (n.7615-29G>C)
c.7612-29G>C (n.7612-29G>C)
c.1067-29G>C
n.7698-29G>C
19g.38502478G=CA2335054334RYR1c.7615-29G= (n.7615-29G=)
c.7612-29G= (n.7612-29G=)
c.1067-29G=
n.7698-29G=
19g.38502478G>TCA2576770958RYR1c.7615-29G>T (n.7615-29G>T)
c.7612-29G>T (n.7612-29G>T)
c.1067-29G>T
n.7698-29G>T
 gnomAD v4
19g.38502479G>ACA308111727RYR1c.7615-28G>A (n.7615-28G>A)
c.7612-28G>A (n.7612-28G>A)
c.1067-28G>A
n.7698-28G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502479G=CA2335054335RYR1c.7615-28G= (n.7615-28G=)
c.7612-28G= (n.7612-28G=)
c.1067-28G=
n.7698-28G=
19g.38502479G>TCA633066599RYR1c.7615-28G>T (n.7615-28G>T)
c.7612-28G>T (n.7612-28G>T)
c.1067-28G>T
n.7698-28G>T
 dbSNP gnomAD v2 gnomAD v4
19g.38502480G>ACA2576770959RYR1c.7615-27G>A (n.7615-27G>A)
c.7612-27G>A (n.7612-27G>A)
c.1067-27G>A
n.7698-27G>A
 gnomAD v4
19g.38502480G=CA2335054336RYR1c.7615-27G= (n.7615-27G=)
c.7612-27G= (n.7612-27G=)
c.1067-27G=
n.7698-27G=
19g.38502480G>TCA633066600RYR1c.7615-27G>T (n.7615-27G>T)
c.7612-27G>T (n.7612-27G>T)
c.1067-27G>T
n.7698-27G>T
 dbSNP gnomAD v2 gnomAD v4
19g.38502481C>ACA2584900575RYR1c.7615-26C>A (n.7615-26C>A)
c.7612-26C>A (n.7612-26C>A)
c.1067-26C>A
n.7698-26C>A
 gnomAD v4
19g.38502481C=CA2335054337RYR1c.7615-26C= (n.7615-26C=)
c.7612-26C= (n.7612-26C=)
c.1067-26C=
n.7698-26C=
19g.38502481C>TCA633066601RYR1c.7615-26C>T (n.7615-26C>T)
c.7612-26C>T (n.7612-26C>T)
c.1067-26C>T
n.7698-26C>T
 dbSNP gnomAD v2 gnomAD v4
19g.38502482C>ACA2584900576RYR1c.7615-25C>A (n.7615-25C>A)
c.7612-25C>A (n.7612-25C>A)
c.1067-25C>A
n.7698-25C>A
 gnomAD v4
19g.38502482C>TCA2584900577RYR1c.7615-25C>T (n.7615-25C>T)
c.7612-25C>T (n.7612-25C>T)
c.1067-25C>T
n.7698-25C>T
 gnomAD v4
19g.38502483T>ACA2584900578RYR1c.7615-24T>A (n.7615-24T>A)
c.7612-24T>A (n.7612-24T>A)
c.1067-24T>A
n.7698-24T>A
 gnomAD v4
19g.38502483T>CCA2584900579RYR1c.7615-24T>C (n.7615-24T>C)
c.7612-24T>C (n.7612-24T>C)
c.1067-24T>C
n.7698-24T>C
 gnomAD v4
19g.38502484G>ACA2584900580RYR1c.7615-23G>A (n.7615-23G>A)
c.7612-23G>A (n.7612-23G>A)
c.1067-23G>A
n.7698-23G>A
 gnomAD v4
19g.38502484G>TCA2584900581RYR1c.7615-23G>T (n.7615-23G>T)
c.7612-23G>T (n.7612-23G>T)
c.1067-23G>T
n.7698-23G>T
 gnomAD v4
19g.38502485A>GCA2584900583RYR1c.7615-22A>G (n.7615-22A>G)
c.7612-22A>G (n.7612-22A>G)
c.1067-22A>G
n.7698-22A>G
 gnomAD v4
19g.38502486_38502493delCA2584900582RYR1c.7615-21_7615-14del (n.7615-21_7615-14del)
c.7612-21_7612-14del (n.7612-21_7612-14del)
c.1067-21_1067-14del
n.7698-21_7698-14del
 gnomAD v4
19g.38502486T>CCA2584900584RYR1c.7615-21T>C (n.7615-21T>C)
c.7612-21T>C (n.7612-21T>C)
c.1067-21T>C
n.7698-21T>C
 gnomAD v4
19g.38502487G>ACA069845RYR1c.7615-20G>A (n.7615-20G>A)
c.7612-20G>A (n.7612-20G>A)
c.1067-20G>A
n.7698-20G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502487G=CA2335054338RYR1c.7615-20G= (n.7615-20G=)
c.7612-20G= (n.7612-20G=)
c.1067-20G=
n.7698-20G=
19g.38502487G>TCA2584900585RYR1c.7615-20G>T (n.7615-20G>T)
c.7612-20G>T (n.7612-20G>T)
c.1067-20G>T
n.7698-20G>T
 gnomAD v4
19g.38502488T>CCA2576770960RYR1c.7615-19T>C (n.7615-19T>C)
c.7612-19T>C (n.7612-19T>C)
c.1067-19T>C
n.7698-19T>C
19g.38502488_38502544delinsTCCTCACCCTGCGCCCTAGGCCACTTTCAGCACCACCGAGATGGCGCTGGCGCTGAACA2335054339RYR1c.7615-19_7652delinsTCCTCACCCTGCGCCCTAGGCCACTTTCAGCACCACCGAGATGGCGCTGGCGCTGAA
c.7612-19_7649delinsTCCTCACCCTGCGCCCTAGGCCACTTTCAGCACCACCGAGATGGCGCTGGCGCTGAA
c.1067-19_1104delinsTCCTCACCCTGCGCCCTAGGCCACTTTCAGCACCACCGAGATGGCGCTGGCGCTGAA
n.7698-19_7735delinsTCCTCACCCTGCGCCCTAGGCCACTTTCAGCACCACCGAGATGGCGCTGGCGCTGAA
19g.38502489C>ACA2584900586RYR1c.7615-18C>A (n.7615-18C>A)
c.7612-18C>A (n.7612-18C>A)
c.1067-18C>A
n.7698-18C>A
 gnomAD v4
19g.38502489C=CA2335054340RYR1c.7615-18C= (n.7615-18C=)
c.7612-18C= (n.7612-18C=)
c.1067-18C=
n.7698-18C=
19g.38502489C>TCA308111730RYR1c.7615-18C>T (n.7615-18C>T)
c.7612-18C>T (n.7612-18C>T)
c.1067-18C>T
n.7698-18C>T
 dbSNP gnomAD v2 gnomAD v4
19g.38502491_38502546delCA633066602RYR1c.7615-16_7654del
c.7612-16_7651del
c.1067-16_1106del
n.7698-16_7737del
 dbSNP gnomAD v2 gnomAD v4
19g.38502490C>ACA2584900587RYR1c.7615-17C>A (n.7615-17C>A)
c.7612-17C>A (n.7612-17C>A)
c.1067-17C>A
n.7698-17C>A
 gnomAD v4
19g.38502490C=CA2335054341RYR1c.7615-17C= (n.7615-17C=)
c.7612-17C= (n.7612-17C=)
c.1067-17C=
n.7698-17C=
19g.38502490C>TCA069841RYR1c.7615-17C>T (n.7615-17C>T)
c.7612-17C>T (n.7612-17C>T)
c.1067-17C>T
n.7698-17C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502491T>CCA069839RYR1c.7615-16T>C (n.7615-16T>C)
c.7612-16T>C (n.7612-16T>C)
c.1067-16T>C
n.7698-16T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502491T=CA2335054342RYR1c.7615-16T= (n.7615-16T=)
c.7612-16T= (n.7612-16T=)
c.1067-16T=
n.7698-16T=
19g.38502492C=CA2335054343RYR1c.7615-15C= (n.7615-15C=)
c.7612-15C= (n.7612-15C=)
c.1067-15C=
n.7698-15C=
19g.38502492C>GCA633066603RYR1c.7615-15C>G (n.7615-15C>G)
c.7612-15C>G (n.7612-15C>G)
c.1067-15C>G
n.7698-15C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502493A=CA2335054346RYR1c.7615-14A= (n.7615-14A=)
c.7612-14A= (n.7612-14A=)
c.1067-14A=
n.7698-14A=
19g.38502493A>CCA2335054345RYR1c.7615-14A>C (n.7615-14A>C)
c.7612-14A>C (n.7612-14A>C)
c.1067-14A>C
n.7698-14A>C
 dbSNP
19g.38502493_38502494delinsACCA2335054344RYR1c.7615-14_7615-13delinsAC (n.7615-14_7615-13delinsAC)
c.7612-14_7612-13delinsAC (n.7612-14_7612-13delinsAC)
c.1067-14_1067-13delinsAC
n.7698-14_7698-13delinsAC
19g.38502494C>ACA633066604RYR1c.7615-13C>A (n.7615-13C>A)
c.7612-13C>A (n.7612-13C>A)
c.1067-13C>A
n.7698-13C>A
 dbSNP gnomAD v2 gnomAD v4
19g.38502494C=CA2335054347RYR1c.7615-13C= (n.7615-13C=)
c.7612-13C= (n.7612-13C=)
c.1067-13C=
n.7698-13C=
19g.38502494C>TCA633066605RYR1c.7615-13C>T (n.7615-13C>T)
c.7612-13C>T (n.7612-13C>T)
c.1067-13C>T
n.7698-13C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502496delCA308111771RYR1c.7615-11del (n.7615-11del)
c.7612-11del (n.7612-11del)
c.1067-11del
n.7698-11del
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502495C=CA2335054348RYR1c.7615-12C= (n.7615-12C=)
c.7612-12C= (n.7612-12C=)
c.1067-12C=
n.7698-12C=
19g.38502495C>GCA2335054349RYR1c.7615-12C>G (n.7615-12C>G)
c.7612-12C>G (n.7612-12C>G)
c.1067-12C>G
n.7698-12C>G
 dbSNP
19g.38502495C>TCA2584900588RYR1c.7615-12C>T (n.7615-12C>T)
c.7612-12C>T (n.7612-12C>T)
c.1067-12C>T
n.7698-12C>T
 ClinVar gnomAD v4
19g.38502496C>ACA2584900589RYR1c.7615-11C>A (n.7615-11C>A)
c.7612-11C>A (n.7612-11C>A)
c.1067-11C>A
n.7698-11C>A
 gnomAD v4
19g.38502496C=CA2335054350RYR1c.7615-11C= (n.7615-11C=)
c.7612-11C= (n.7612-11C=)
c.1067-11C=
n.7698-11C=
19g.38502496C>TCA308111777RYR1c.7615-11C>T (n.7615-11C>T)
c.7612-11C>T (n.7612-11C>T)
c.1067-11C>T
n.7698-11C>T
 ClinVar dbSNP gnomAD v4
19g.38502497T>ACA2584900590RYR1c.7615-10T>A (n.7615-10T>A)
c.7612-10T>A (n.7612-10T>A)
c.1067-10T>A
n.7698-10T>A
 gnomAD v4
19g.38502497T>CCA069836RYR1c.7615-10T>C (n.7615-10T>C)
c.7612-10T>C (n.7612-10T>C)
c.1067-10T>C
n.7698-10T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502497T=CA2335054351RYR1c.7615-10T= (n.7615-10T=)
c.7612-10T= (n.7612-10T=)
c.1067-10T=
n.7698-10T=
19g.38502498G>ACA2584900591RYR1c.7615-9G>A (n.7615-9G>A)
c.7612-9G>A (n.7612-9G>A)
c.1067-9G>A
n.7698-9G>A
 gnomAD v4
19g.38502498G>TCA2584900592RYR1c.7615-9G>T (n.7615-9G>T)
c.7612-9G>T (n.7612-9G>T)
c.1067-9G>T
n.7698-9G>T
 gnomAD v4
19g.38502499C>ACA2584900593RYR1c.7615-8C>A (n.7615-8C>A)
c.7612-8C>A (n.7612-8C>A)
c.1067-8C>A
n.7698-8C>A
 gnomAD v4
19g.38502499C=CA2335054352RYR1c.7615-8C= (n.7615-8C=)
c.7612-8C= (n.7612-8C=)
c.1067-8C=
n.7698-8C=
19g.38502499C>TCA069871RYR1c.7615-8C>T (n.7615-8C>T)
c.7612-8C>T (n.7612-8C>T)
c.1067-8C>T
n.7698-8C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502500_38502509delCA995716973RYR1c.7615-7_7617del
c.7612-7_7614del
c.1067-7_1069del
n.7698-7_7700del
 gnomAD v3 gnomAD v4
19g.38502500G>ACA069869RYR1c.7615-7G>A (n.7615-7G>A)
c.7612-7G>A (n.7612-7G>A)
c.1067-7G>A
n.7698-7G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502500G=CA2335054353RYR1c.7615-7G= (n.7615-7G=)
c.7612-7G= (n.7612-7G=)
c.1067-7G=
n.7698-7G=
19g.38502500G>TCA633066606RYR1c.7615-7G>T (n.7615-7G>T)
c.7612-7G>T (n.7612-7G>T)
c.1067-7G>T
n.7698-7G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502501C>ACA633066607RYR1c.7615-6C>A (n.7615-6C>A)
c.7612-6C>A (n.7612-6C>A)
c.1067-6C>A
n.7698-6C>A
 dbSNP gnomAD v2 gnomAD v4
19g.38502501C=CA2335054354RYR1c.7615-6C= (n.7615-6C=)
c.7612-6C= (n.7612-6C=)
c.1067-6C=
n.7698-6C=
19g.38502501C>TCA069867RYR1c.7615-6C>T (n.7615-6C>T)
c.7612-6C>T (n.7612-6C>T)
c.1067-6C>T
n.7698-6C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502501_38502503delCA995716999RYR1c.7615-6_7615-4del (n.7615-6_7615-4del)
c.7612-6_7612-4del (n.7612-6_7612-4del)
c.1067-6_1067-4del
n.7698-6_7698-4del
 gnomAD v3 gnomAD v4
19g.38502501_38502511delCA995717005RYR1c.7615-6_7619del
c.7612-6_7616del
c.1067-6_1071del
n.7698-6_7702del
 gnomAD v3 gnomAD v4
19g.38502502C=CA2335054355RYR1c.7615-5C= (n.7615-5C=)
c.7612-5C= (n.7612-5C=)
c.1067-5C=
n.7698-5C=
19g.38502502C>TCA024836RYR1c.7615-5C>T (n.7615-5C>T)
c.7612-5C>T (n.7612-5C>T)
c.1067-5C>T
n.7698-5C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502503C=CA2335054356RYR1c.7615-4C= (n.7615-4C=)
c.7612-4C= (n.7612-4C=)
c.1067-4C=
n.7698-4C=
19g.38502503C>GCA2518666717RYR1c.7615-4C>G (n.7615-4C>G)
c.7612-4C>G (n.7612-4C>G)
c.1067-4C>G
n.7698-4C>G
 ClinVar gnomAD v4
19g.38502503C>TCA069860RYR1c.7615-4C>T (n.7615-4C>T)
c.7612-4C>T (n.7612-4C>T)
c.1067-4C>T
n.7698-4C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502504T>ACA2695228668RYR1c.7615-3T>A (n.7615-3T>A)
c.7612-3T>A (n.7612-3T>A)
c.1067-3T>A
n.7698-3T>A
19g.38502504T>CCA995717013RYR1c.7615-3T>C (n.7615-3T>C)
c.7612-3T>C (n.7612-3T>C)
c.1067-3T>C
n.7698-3T>C
 dbSNP gnomAD v3 gnomAD v4
19g.38502504T>GCA2739276779RYR1c.7615-3T>G (n.7615-3T>G)
c.7612-3T>G (n.7612-3T>G)
c.1067-3T>G
n.7698-3T>G
 ClinVar
19g.38502504T=CA2335054357RYR1c.7615-3T= (n.7615-3T=)
c.7612-3T= (n.7612-3T=)
c.1067-3T=
n.7698-3T=
19g.38502504_38502505insTTTTTACA995717015RYR1c.7615-3_7615-2insTTTTTA (n.7615-3_7615-2insTTTTTA)
c.7612-3_7612-2insTTTTTA (n.7612-3_7612-2insTTTTTA)
c.1067-3_1067-2insTTTTTA
n.7698-3_7698-2insTTTTTA
 gnomAD v3 gnomAD v4
19g.38502505A>CCA405671263RYR1c.7615-2A>C (n.7615-2A>C)
c.7612-2A>C (n.7612-2A>C)
c.1067-2A>C
n.7698-2A>C
19g.38502505A>GCA405671272RYR1c.7615-2A>G (n.7615-2A>G)
c.7612-2A>G (n.7612-2A>G)
c.1067-2A>G
n.7698-2A>G
 gnomAD v4
19g.38502505A>TCA405671266RYR1c.7615-2A>T (n.7615-2A>T)
c.7612-2A>T (n.7612-2A>T)
c.1067-2A>T
n.7698-2A>T
19g.38502506G>ACA405671275RYR1c.7615-1G>A (n.7615-1G>A)
c.7612-1G>A (n.7612-1G>A)
c.1067-1G>A
n.7698-1G>A
 dbSNP gnomAD v2
19g.38502506G>CCA405671277RYR1c.7615-1G>C (n.7615-1G>C)
c.7612-1G>C (n.7612-1G>C)
c.1067-1G>C
n.7698-1G>C
 gnomAD v4
19g.38502506G=CA2335054358RYR1c.7615-1G= (n.7615-1G=)
c.7612-1G= (n.7612-1G=)
c.1067-1G=
n.7698-1G=
19g.38502506G>TCA405671278RYR1c.7615-1G>T (n.7615-1G>T)
c.7612-1G>T (n.7612-1G>T)
c.1067-1G>T
n.7698-1G>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38502507G>ACA405671281RYR1c.7615G>A (p.Ala2539Thr)
c.7612G>A (p.Ala2538Thr)
c.1067G>A
n.7698G>A
 dbSNP gnomAD v4
19g.38502507G>CCA405671284RYR1c.7615G>C (p.Ala2539Pro)
c.7612G>C (p.Ala2538Pro)
c.1067G>C
n.7698G>C
19g.38502507G=CA2335054359RYR1c.7615G= (p.Ala2539=)
c.7612G= (p.Ala2538=)
c.1067G=
n.7698G=
19g.38502507G>TCA405671289RYR1c.7615G>T (p.Ala2539Ser)
c.7612G>T (p.Ala2538Ser)
c.1067G>T
n.7698G>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502508C>ACA405671291RYR1c.7616C>A (p.Ala2539Asp)
c.7613C>A (p.Ala2538Asp)
c.1068C>A
n.7699C>A
 gnomAD v4
19g.38502508C=CA2335054360RYR1c.7616C= (p.Ala2539=)
c.7613C= (p.Ala2538=)
c.1068C=
n.7699C=
19g.38502508C>GCA405671294RYR1c.7616C>G (p.Ala2539Gly)
c.7613C>G (p.Ala2538Gly)
c.1068C>G
n.7699C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502508C>TCA069875RYR1c.7616C>T (p.Ala2539Val)
c.7613C>T (p.Ala2538Val)
c.1068C>T
n.7699C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502508_38502509delCA995717029RYR1c.7616_7617del (p.Ala2539AspfsTer?)
c.7613_7614del (p.Ala2538AspfsTer?)
c.1068_1069del
n.7699_7700del
 gnomAD v3 gnomAD v4
19g.38502509C>ACA507243683RYR1c.7617C>A (p.Ala2539=)
c.7614C>A (p.Ala2538=)
c.1069C>A
n.7700C>A
 gnomAD v4
19g.38502509C=CA2335054361RYR1c.7617C= (p.Ala2539=)
c.7614C= (p.Ala2538=)
c.1069C=
n.7700C=
19g.38502509C>GCA507243684RYR1c.7617C>G (p.Ala2539=)
c.7614C>G (p.Ala2538=)
c.1069C>G
n.7700C>G
19g.38502509C>TCA069878RYR1c.7617C>T (p.Ala2539=)
c.7614C>T (p.Ala2538=)
c.1069C>T
n.7700C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502510A=CA2335054362RYR1c.7618A= (p.Thr2540=)
c.7615A= (p.Thr2539=)
c.1070A=
n.7701A=
19g.38502510A>CCA405671302RYR1c.7618A>C (p.Thr2540Pro)
c.7615A>C (p.Thr2539Pro)
c.1070A>C
n.7701A>C
 dbSNP gnomAD v3 gnomAD v4
19g.38502510A>GCA405671305RYR1c.7618A>G (p.Thr2540Ala)
c.7615A>G (p.Thr2539Ala)
c.1070A>G
n.7701A>G
19g.38502510A>TCA405671299RYR1c.7618A>T (p.Thr2540Ser)
c.7615A>T (p.Thr2539Ser)
c.1070A>T
n.7701A>T
19g.38502511C>ACA405671311RYR1c.7619C>A (p.Thr2540Asn)
c.7616C>A (p.Thr2539Asn)
c.1071C>A
n.7702C>A
19g.38502511C=CA2335054363RYR1c.7619C= (p.Thr2540=)
c.7616C= (p.Thr2539=)
c.1071C=
n.7702C=
19g.38502511C>GCA405671313RYR1c.7619C>G (p.Thr2540Ser)
c.7616C>G (p.Thr2539Ser)
c.1071C>G
n.7702C>G
19g.38502511C>TCA082512RYR1c.7619C>T (p.Thr2540Ile)
c.7616C>T (p.Thr2539Ile)
c.1071C>T
n.7702C>T
 dbSNP gnomAD v3 gnomAD v4
19g.38502511_38502512delCA995717041RYR1c.7619_7620del (p.Thr2540IlefsTer?)
c.7616_7617del (p.Thr2539IlefsTer?)
c.1071_1072del
n.7702_7703del
 gnomAD v3 gnomAD v4
19g.38502512T>ACA507243691RYR1c.7620T>A (p.Thr2540=)
c.7617T>A (p.Thr2539=)
c.1072T>A
n.7703T>A
19g.38502512T>CCA507243692RYR1c.7620T>C (p.Thr2540=)
c.7617T>C (p.Thr2539=)
c.1072T>C
n.7703T>C
19g.38502512T>GCA507243693RYR1c.7620T>G (p.Thr2540=)
c.7617T>G (p.Thr2539=)
c.1072T>G
n.7703T>G
19g.38502514delCA2584900594RYR1c.7622del (p.Phe2541SerfsTer10)
c.7619del (p.Phe2540SerfsTer10)
c.1074del
n.7705del
 gnomAD v4
19g.38502513T>ACA405671316RYR1c.7621T>A (p.Phe2541Ile)
c.7618T>A (p.Phe2540Ile)
c.1073T>A
n.7704T>A
19g.38502513T>CCA405671317RYR1c.7621T>C (p.Phe2541Leu)
c.7618T>C (p.Phe2540Leu)
c.1073T>C
n.7704T>C
19g.38502513T>GCA405671318RYR1c.7621T>G (p.Phe2541Val)
c.7618T>G (p.Phe2540Val)
c.1073T>G
n.7704T>G
19g.38502514T>ACA405671321RYR1c.7622T>A (p.Phe2541Tyr)
c.7619T>A (p.Phe2540Tyr)
c.1074T>A
n.7705T>A
19g.38502514T>CCA405671319RYR1c.7622T>C (p.Phe2541Ser)
c.7619T>C (p.Phe2540Ser)
c.1074T>C
n.7705T>C
19g.38502514T>GCA405671320RYR1c.7622T>G (p.Phe2541Cys)
c.7619T>G (p.Phe2540Cys)
c.1074T>G
n.7705T>G
 gnomAD v4
19g.38502514T=CA2335054364RYR1c.7622T= (p.Phe2541=)
c.7619T= (p.Phe2540=)
c.1074T=
n.7705T=
19g.38502514_38502515insTTTAATGATACGTCA2528226534RYR1c.7622_7623insTTTAATGATACGT (p.Ser2542LeufsTer?)
c.7619_7620insTTTAATGATACGT (p.Ser2541LeufsTer?)
c.1074_1075insTTTAATGATACGT
n.7705_7706insTTTAATGATACGT
19g.38502514_38502515insTTTAATGATACA633066608RYR1c.7622_7623insTTTAATGATA (p.Ser2542LeufsTer?)
c.7619_7620insTTTAATGATA (p.Ser2541LeufsTer?)
c.1074_1075insTTTAATGATA
n.7705_7706insTTTAATGATA
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502514_38502515insTTTAATGCTACA995717051RYR1c.7622_7623insTTTAATGCTA (p.Ser2542LeufsTer?)
c.7619_7620insTTTAATGCTA (p.Ser2541LeufsTer?)
c.1074_1075insTTTAATGCTA
n.7705_7706insTTTAATGCTA
 gnomAD v3 gnomAD v4
19g.38502514_38502515insTTTACTGATACA995717054RYR1c.7622_7623insTTTACTGATA (p.Ser2542LeufsTer?)
c.7619_7620insTTTACTGATA (p.Ser2541LeufsTer?)
c.1074_1075insTTTACTGATA
n.7705_7706insTTTACTGATA
 gnomAD v3 gnomAD v4
19g.38502514_38502515insTTTGATGATACA995717055RYR1c.7622_7623insTTTGATGATA (p.Ser2542LeufsTer?)
c.7619_7620insTTTGATGATA (p.Ser2541LeufsTer?)
c.1074_1075insTTTGATGATA
n.7705_7706insTTTGATGATA
 gnomAD v3 gnomAD v4
19g.38502515C>ACA405671322RYR1c.7623C>A (p.Phe2541Leu)
c.7620C>A (p.Phe2540Leu)
c.1075C>A
n.7706C>A
19g.38502515C>GCA405671323RYR1c.7623C>G (p.Phe2541Leu)
c.7620C>G (p.Phe2540Leu)
c.1075C>G
n.7706C>G
 gnomAD v4
19g.38502515C>TCA507243695RYR1c.7623C>T (p.Phe2541=)
c.7620C>T (p.Phe2540=)
c.1075C>T
n.7706C>T
 ClinVar
19g.38502516delCA2565678219RYR1c.7624del (p.Ser2542AlafsTer9)
c.7621del (p.Ser2541AlafsTer9)
c.1076del
n.7707del
19g.38502516A=CA2335054365RYR1c.7624A= (p.Ser2542=)
c.7621A= (p.Ser2541=)
c.1076A=
n.7707A=
19g.38502516A>CCA405671324RYR1c.7624A>C (p.Ser2542Arg)
c.7621A>C (p.Ser2541Arg)
c.1076A>C
n.7707A>C
19g.38502516A>GCA405671325RYR1c.7624A>G (p.Ser2542Gly)
c.7621A>G (p.Ser2541Gly)
c.1076A>G
n.7707A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38502516A>TCA405671326RYR1c.7624A>T (p.Ser2542Cys)
c.7621A>T (p.Ser2541Cys)
c.1076A>T
n.7707A>T
19g.38502517G>ACA405671327RYR1c.7625G>A (p.Ser2542Asn)
c.7622G>A (p.Ser2541Asn)
c.1077G>A
n.7708G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502517G>CCA405671329RYR1c.7625G>C (p.Ser2542Thr)
c.7622G>C (p.Ser2541Thr)
c.1077G>C
n.7708G>C
 dbSNP gnomAD v2 gnomAD v4
19g.38502517G=CA2335054366RYR1c.7625G= (p.Ser2542=)
c.7622G= (p.Ser2541=)
c.1077G=
n.7708G=
19g.38502517G>TCA405671328RYR1c.7625G>T (p.Ser2542Ile)
c.7622G>T (p.Ser2541Ile)
c.1077G>T
n.7708G>T
 gnomAD v4
19g.38502518delCA2503579571RYR1c.7626del (p.Ser2542ArgfsTer9)
c.7623del (p.Ser2541ArgfsTer9)
c.1078del
n.7709del
19g.38502518C>ACA405671330RYR1c.7626C>A (p.Ser2542Arg)
c.7623C>A (p.Ser2541Arg)
c.1078C>A
n.7709C>A
19g.38502518C=CA2335054367RYR1c.7626C= (p.Ser2542=)
c.7623C= (p.Ser2541=)
c.1078C=
n.7709C=
19g.38502518C>GCA405671332RYR1c.7626C>G (p.Ser2542Arg)
c.7623C>G (p.Ser2541Arg)
c.1078C>G
n.7709C>G
 dbSNP
19g.38502518C>TCA069880RYR1c.7626C>T (p.Ser2542=)
c.7623C>T (p.Ser2541=)
c.1078C>T
n.7709C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502518_38502519insGCA633066609RYR1c.7626_7627insG (p.Thr2543AspfsTer?)
c.7623_7624insG (p.Thr2542AspfsTer?)
c.1078_1079insG
n.7709_7710insG
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502519A>CCA405671335RYR1c.7627A>C (p.Thr2543Pro)
c.7624A>C (p.Thr2542Pro)
c.1079A>C
n.7710A>C
19g.38502519A>GCA405671338RYR1c.7627A>G (p.Thr2543Ala)
c.7624A>G (p.Thr2542Ala)
c.1079A>G
n.7710A>G
19g.38502519A>TCA405671344RYR1c.7627A>T (p.Thr2543Ser)
c.7624A>T (p.Thr2542Ser)
c.1079A>T
n.7710A>T
19g.38502520C>ACA405671356RYR1c.7628C>A (p.Thr2543Asn)
c.7625C>A (p.Thr2542Asn)
c.1080C>A
n.7711C>A
 gnomAD v4
19g.38502520C=CA2335054368RYR1c.7628C= (p.Thr2543=)
c.7625C= (p.Thr2542=)
c.1080C=
n.7711C=
19g.38502520C>GCA405671360RYR1c.7628C>G (p.Thr2543Ser)
c.7625C>G (p.Thr2542Ser)
c.1080C>G
n.7711C>G
19g.38502520C>TCA405671362RYR1c.7628C>T (p.Thr2543Ile)
c.7625C>T (p.Thr2542Ile)
c.1080C>T
n.7711C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502521C>ACA507243697RYR1c.7629C>A (p.Thr2543=)
c.7626C>A (p.Thr2542=)
c.1081C>A
n.7712C>A
 gnomAD v4
19g.38502521C>GCA507243698RYR1c.7629C>G (p.Thr2543=)
c.7626C>G (p.Thr2542=)
c.1081C>G
n.7712C>G
19g.38502521C>TCA082514RYR1c.7629C>T (p.Thr2543=)
c.7626C>T (p.Thr2542=)
c.1081C>T
n.7712C>T
19g.38502522A=CA2335054369RYR1c.7630A= (p.Thr2544=)
c.7627A= (p.Thr2543=)
c.1082A=
n.7713A=
19g.38502522A>CCA405671372RYR1c.7630A>C (p.Thr2544Pro)
c.7627A>C (p.Thr2543Pro)
c.1082A>C
n.7713A>C
19g.38502522A>GCA069884RYR1c.7630A>G (p.Thr2544Ala)
c.7627A>G (p.Thr2543Ala)
c.1082A>G
n.7713A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502522A>TCA405671378RYR1c.7630A>T (p.Thr2544Ser)
c.7627A>T (p.Thr2543Ser)
c.1082A>T
n.7713A>T
19g.38502523C>ACA405671382RYR1c.7631C>A (p.Thr2544Asn)
c.7628C>A (p.Thr2543Asn)
c.1083C>A
n.7714C>A
19g.38502523C=CA2335054370RYR1c.7631C= (p.Thr2544=)
c.7628C= (p.Thr2543=)
c.1083C=
n.7714C=
19g.38502523C>GCA069888RYR1c.7631C>G (p.Thr2544Ser)
c.7628C>G (p.Thr2543Ser)
c.1083C>G
n.7714C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502523C>TCA405671380RYR1c.7631C>T (p.Thr2544Ile)
c.7628C>T (p.Thr2543Ile)
c.1083C>T
n.7714C>T
19g.38502524C>ACA507243699RYR1c.7632C>A (p.Thr2544=)
c.7629C>A (p.Thr2543=)
c.1084C>A
n.7715C>A
 gnomAD v4
19g.38502524C=CA2335054371RYR1c.7632C= (p.Thr2544=)
c.7629C= (p.Thr2543=)
c.1084C=
n.7715C=
19g.38502524C>GCA507243700RYR1c.7632C>G (p.Thr2544=)
c.7629C>G (p.Thr2543=)
c.1084C>G
n.7715C>G
 gnomAD v4
19g.38502524C>TCA507243701RYR1c.7632C>T (p.Thr2544=)
c.7629C>T (p.Thr2543=)
c.1084C>T
n.7715C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502525G>ACA082493RYR1c.7633G>A (p.Glu2545Lys)
c.7630G>A (p.Glu2544Lys)
c.1085G>A
n.7716G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.38502525G>CCA069896RYR1c.7633G>C (p.Glu2545Gln)
c.7630G>C (p.Glu2544Gln)
c.1085G>C
n.7716G>C
 dbSNP ExAC
19g.38502525G=CA2335054372RYR1c.7633G= (p.Glu2545=)
c.7630G= (p.Glu2544=)
c.1085G=
n.7716G=
19g.38502525G>TCA405671387RYR1c.7633G>T (p.Glu2545Ter)
c.7630G>T (p.Glu2544Ter)
c.1085G>T
n.7716G>T
 gnomAD v4
19g.38502526A>CCA405671391RYR1c.7634A>C (p.Glu2545Ala)
c.7631A>C (p.Glu2544Ala)
c.1086A>C
n.7717A>C
19g.38502526A>GCA405671393RYR1c.7634A>G (p.Glu2545Gly)
c.7631A>G (p.Glu2544Gly)
c.1086A>G
n.7717A>G
 gnomAD v4
19g.38502526A>TCA405671397RYR1c.7634A>T (p.Glu2545Val)
c.7631A>T (p.Glu2544Val)
c.1086A>T
n.7717A>T
19g.38502527G>ACA308111842RYR1c.7635G>A (p.Glu2545=)
c.7632G>A (p.Glu2544=)
c.1087G>A
n.7718G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502527G>CCA024839RYR1c.7635G>C (p.Glu2545Asp)
c.7632G>C (p.Glu2544Asp)
c.1087G>C
n.7718G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502527G=CA2335053788RYR1c.7635G= (p.Glu2545=)
c.7632G= (p.Glu2544=)
c.1087G=
n.7718G=
19g.38502527G>TCA405671402RYR1c.7635G>T (p.Glu2545Asp)
c.7632G>T (p.Glu2544Asp)
c.1087G>T
n.7718G>T
 gnomAD v4
19g.38502528A=CA2335053791RYR1c.7636A= (p.Met2546=)
c.7633A= (p.Met2545=)
c.1088A=
n.7719A=
19g.38502528A>CCA405671408RYR1c.7636A>C (p.Met2546Leu)
c.7633A>C (p.Met2545Leu)
c.1088A>C
n.7719A>C
19g.38502528A>GCA405671411RYR1c.7636A>G (p.Met2546Val)
c.7633A>G (p.Met2545Val)
c.1088A>G
n.7719A>G
 ClinVar
19g.38502528A>TCA405671412RYR1c.7636A>T (p.Met2546Leu)
c.7633A>T (p.Met2545Leu)
c.1088A>T
n.7719A>T
19g.38502529T>ACA405671417RYR1c.7637T>A (p.Met2546Lys)
c.7634T>A (p.Met2545Lys)
c.1089T>A
n.7720T>A
19g.38502529T>CCA405671419RYR1c.7637T>C (p.Met2546Thr)
c.7634T>C (p.Met2545Thr)
c.1089T>C
n.7720T>C
 ClinVar gnomAD v4
19g.38502529T>GCA405671421RYR1c.7637T>G (p.Met2546Arg)
c.7634T>G (p.Met2545Arg)
c.1089T>G
n.7720T>G
19g.38502537_38502542dupCA069900RYR1c.7645_7650dup (p.Leu2550_Asn2551insAlaLeu)
c.7642_7647dup (p.Leu2549_Asn2550insAlaLeu)
c.1097_1102dup
n.7728_7733dup
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502530G>ACA405671425RYR1c.7638G>A (p.Met2546Ile)
c.7635G>A (p.Met2545Ile)
c.1090G>A
n.7721G>A
 gnomAD v4 COSMIC
19g.38502530G>CCA082519RYR1c.7638G>C (p.Met2546Ile)
c.7635G>C (p.Met2545Ile)
c.1090G>C
n.7721G>C
19g.38502530G>TCA405671422RYR1c.7638G>T (p.Met2546Ile)
c.7635G>T (p.Met2545Ile)
c.1090G>T
n.7721G>T
 gnomAD v4
19g.38502531G>ACA405671427RYR1c.7639G>A (p.Ala2547Thr)
c.7636G>A (p.Ala2546Thr)
c.1091G>A
n.7722G>A
 dbSNP gnomAD v4
19g.38502531G>CCA405671430RYR1c.7639G>C (p.Ala2547Pro)
c.7636G>C (p.Ala2546Pro)
c.1091G>C
n.7722G>C
19g.38502531G=CA2335053801RYR1c.7639G= (p.Ala2547=)
c.7636G= (p.Ala2546=)
c.1091G=
n.7722G=
19g.38502531G>TCA308111849RYR1c.7639G>T (p.Ala2547Ser)
c.7636G>T (p.Ala2546Ser)
c.1091G>T
n.7722G>T
 dbSNP gnomAD v2 gnomAD v4
19g.38502531_38502532insTGGCGCCA082520RYR1c.7639_7640insTGGCGC (p.Ala2547delinsValAlaPro)
c.7636_7637insTGGCGC (p.Ala2546delinsValAlaPro)
c.1091_1092insTGGCGC
n.7722_7723insTGGCGC
19g.38502532C>ACA405671432RYR1c.7640C>A (p.Ala2547Glu)
c.7637C>A (p.Ala2546Glu)
c.1092C>A
n.7723C>A
19g.38502532C=CA2335053804RYR1c.7640C= (p.Ala2547=)
c.7637C= (p.Ala2546=)
c.1092C=
n.7723C=
19g.38502532C>GCA405671434RYR1c.7640C>G (p.Ala2547Gly)
c.7637C>G (p.Ala2546Gly)
c.1092C>G
n.7723C>G
19g.38502532C>TCA069906RYR1c.7640C>T (p.Ala2547Val)
c.7637C>T (p.Ala2546Val)
c.1092C>T
n.7723C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38502533G>ACA507243703RYR1c.7641G>A (p.Ala2547=)
c.7638G>A (p.Ala2546=)
c.1093G>A
n.7724G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38502533G>CCA507243704RYR1c.7641G>C (p.Ala2547=)
c.7638G>C (p.Ala2546=)
c.1093G>C
n.7724G>C
 ClinVar dbSNP gnomAD v4
19g.38502533G=CA2335053809RYR1c.7641G= (p.Ala2547=)
c.7638G= (p.Ala2546=)
c.1093G=
n.7724G=
19g.38502533G>TCA507243705RYR1c.7641G>T (p.Ala2547=)
c.7638G>T (p.Ala2546=)
c.1093G>T
n.7724G>T
 gnomAD v4
19g.38502534C>ACA405671437RYR1c.7642C>A (p.Leu2548Met)
c.7639C>A (p.Leu2547Met)
c.1094C>A
n.7725C>A
 gnomAD v4
19g.38502534C=CA2335053811RYR1c.7642C= (p.Leu2548=)
c.7639C= (p.Leu2547=)
c.1094C=
n.7725C=
19g.38502534C>GCA405671438RYR1c.7642C>G (p.Leu2548Val)
c.7639C>G (p.Leu2547Val)
c.1094C>G
n.7725C>G
19g.38502534C>TCA507243706RYR1c.7642C>T (p.Leu2548=)
c.7639C>T (p.Leu2547=)
c.1094C>T
n.7725C>T
 dbSNP gnomAD v2 gnomAD v4
19g.38502535T>ACA405671441RYR1c.7643T>A (p.Leu2548Gln)
c.7640T>A (p.Leu2547Gln)
c.1095T>A
n.7726T>A
19g.38502535T>CCA405671442RYR1c.7643T>C (p.Leu2548Pro)
c.7640T>C (p.Leu2547Pro)
c.1095T>C
n.7726T>C
19g.38502535T>GCA405671446RYR1c.7643T>G (p.Leu2548Arg)
c.7640T>G (p.Leu2547Arg)
c.1095T>G
n.7726T>G
19g.38502536G>ACA507243707RYR1c.7644G>A (p.Leu2548=)
c.7641G>A (p.Leu2547=)
c.1096G>A
n.7727G>A
19g.38502536G>CCA507243708RYR1c.7644G>C (p.Leu2548=)
c.7641G>C (p.Leu2547=)
c.1096G>C
n.7727G>C
19g.38502536G>TCA507243709RYR1c.7644G>T (p.Leu2548=)
c.7641G>T (p.Leu2547=)
c.1096G>T
n.7727G>T
 gnomAD v4
19g.38502537G>ACA405671450RYR1c.7645G>A (p.Ala2549Thr)
c.7642G>A (p.Ala2548Thr)
c.1097G>A
n.7728G>A
 COSMIC
19g.38502537G>CCA405671453RYR1c.7645G>C (p.Ala2549Pro)
c.7642G>C (p.Ala2548Pro)
c.1097G>C
n.7728G>C
 gnomAD v4
19g.38502537G>TCA405671447RYR1c.7645G>T (p.Ala2549Ser)
c.7642G>T (p.Ala2548Ser)
c.1097G>T
n.7728G>T
 gnomAD v4
19g.38502538C>ACA405671454RYR1c.7646C>A (p.Ala2549Glu)
c.7643C>A (p.Ala2548Glu)
c.1098C>A
n.7729C>A
 gnomAD v4
19g.38502538C=CA2335053814RYR1c.7646C= (p.Ala2549=)
c.7643C= (p.Ala2548=)
c.1098C=
n.7729C=
19g.38502538C>GCA405671457RYR1c.7646C>G (p.Ala2549Gly)
c.7643C>G (p.Ala2548Gly)
c.1098C>G
n.7729C>G
 dbSNP
19g.38502538C>TCA069910RYR1c.7646C>T (p.Ala2549Val)
c.7643C>T (p.Ala2548Val)
c.1098C>T
n.7729C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502539G>ACA069912RYR1c.7647G>A (p.Ala2549=)
c.7644G>A (p.Ala2548=)
c.1099G>A
n.7730G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502539G>CCA507243710RYR1c.7647G>C (p.Ala2549=)
c.7644G>C (p.Ala2548=)
c.1099G>C
n.7730G>C
 dbSNP gnomAD v2 gnomAD v4
19g.38502539G=CA2335053818RYR1c.7647G= (p.Ala2549=)
c.7644G= (p.Ala2548=)
c.1099G=
n.7730G=
19g.38502539G>TCA069916RYR1c.7647G>T (p.Ala2549=)
c.7644G>T (p.Ala2548=)
c.1099G>T
n.7730G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502540C>ACA405671458RYR1c.7648C>A (p.Leu2550Met)
c.7645C>A (p.Leu2549Met)
c.1100C>A
n.7731C>A
19g.38502540C=CA2335053820RYR1c.7648C= (p.Leu2550=)
c.7645C= (p.Leu2549=)
c.1100C=
n.7731C=
19g.38502540C>GCA024842RYR1c.7648C>G (p.Leu2550Val)
c.7645C>G (p.Leu2549Val)
c.1100C>G
n.7731C>G
 ClinVar dbSNP
19g.38502540C>TCA507243711RYR1c.7648C>T (p.Leu2550=)
c.7645C>T (p.Leu2549=)
c.1100C>T
n.7731C>T
 gnomAD v4
19g.38502541T>ACA405671461RYR1c.7649T>A (p.Leu2550Gln)
c.7646T>A (p.Leu2549Gln)
c.1101T>A
n.7732T>A
19g.38502541T>CCA405671462RYR1c.7649T>C (p.Leu2550Pro)
c.7646T>C (p.Leu2549Pro)
c.1101T>C
n.7732T>C
 gnomAD v4
19g.38502541T>GCA405671465RYR1c.7649T>G (p.Leu2550Arg)
c.7646T>G (p.Leu2549Arg)
c.1101T>G
n.7732T>G
19g.38502541_38502542delinsTGCA2335053823RYR1c.7649_7650delinsTG (p.Leu2550=)
c.7646_7647delinsTG (p.Leu2549=)
c.1101_1102delinsTG
n.7732_7733delinsTG
19g.38502542delCA069919RYR1c.7650del (p.Asn2551ThrfsTer?)
c.7647del (p.Asn2550ThrfsTer?)
c.1102del
n.7733del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502542G>ACA069923RYR1c.7650G>A (p.Leu2550=)
c.7647G>A (p.Leu2549=)
c.1102G>A
n.7733G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38502542G>CCA507243712RYR1c.7650G>C (p.Leu2550=)
c.7647G>C (p.Leu2549=)
c.1102G>C
n.7733G>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38502542G=CA2335053829RYR1c.7650G= (p.Leu2550=)
c.7647G= (p.Leu2549=)
c.1102G=
n.7733G=
19g.38502542G>TCA082522RYR1c.7650G>T (p.Leu2550=)
c.7647G>T (p.Leu2549=)
c.1102G>T
n.7733G>T
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
19g.38502543A>CCA405671473RYR1c.7651A>C (p.Asn2551His)
c.7648A>C (p.Asn2550His)
c.1103A>C
n.7734A>C
 gnomAD v4
19g.38502543A>GCA405671475RYR1c.7651A>G (p.Asn2551Asp)
c.7648A>G (p.Asn2550Asp)
c.1103A>G
n.7734A>G
19g.38502543A>TCA405671471RYR1c.7651A>T (p.Asn2551Tyr)
c.7648A>T (p.Asn2550Tyr)
c.1103A>T
n.7734A>T
19g.38502543_38502549delinsAACCGCTCA2335053833RYR1c.7651_7657delinsAACCGCT (p.Asn2551=)
c.7648_7654delinsAACCGCT (p.Asn2550=)
c.1103_1109delinsAACCGCT
n.7734_7740delinsAACCGCT

Number of alleles fetched