Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38578106T>ACA2584910711RYR1c.1240-38T>A
c.2637-38T>A
c.2609-38T>A
c.14304-38T>A (n.14304-38T>A)
c.14289-38T>A (n.14289-38T>A)
c.14286-38T>A (n.14286-38T>A)
c.14271-38T>A (n.14271-38T>A)
c.14301-38T>A (n.14301-38T>A)
c.14217-38T>A (n.14217-38T>A)
 gnomAD v4
19g.38578108A=CA2335091369RYR1c.1240-36A=
c.2637-36A=
c.2609-36A=
c.14304-36A= (n.14304-36A=)
c.14289-36A= (n.14289-36A=)
c.14286-36A= (n.14286-36A=)
c.14271-36A= (n.14271-36A=)
c.14301-36A= (n.14301-36A=)
c.14217-36A= (n.14217-36A=)
19g.38578108A>TCA632876641RYR1c.1240-36A>T
c.2637-36A>T
c.2609-36A>T
c.14304-36A>T (n.14304-36A>T)
c.14289-36A>T (n.14289-36A>T)
c.14286-36A>T (n.14286-36A>T)
c.14271-36A>T (n.14271-36A>T)
c.14301-36A>T (n.14301-36A>T)
c.14217-36A>T (n.14217-36A>T)
 dbSNP gnomAD v2 gnomAD v4
19g.38578111C=CA2335091370RYR1c.1240-33C=
c.2637-33C=
c.2609-33C=
c.14304-33C= (n.14304-33C=)
c.14289-33C= (n.14289-33C=)
c.14286-33C= (n.14286-33C=)
c.14271-33C= (n.14271-33C=)
c.14301-33C= (n.14301-33C=)
c.14217-33C= (n.14217-33C=)
19g.38578111C>GCA882064294RYR1c.1240-33C>G
c.2637-33C>G
c.2609-33C>G
c.14304-33C>G (n.14304-33C>G)
c.14289-33C>G (n.14289-33C>G)
c.14286-33C>G (n.14286-33C>G)
c.14271-33C>G (n.14271-33C>G)
c.14301-33C>G (n.14301-33C>G)
c.14217-33C>G (n.14217-33C>G)
 dbSNP gnomAD v3 gnomAD v4
19g.38578111C>TCA632876644RYR1c.1240-33C>T
c.2637-33C>T
c.2609-33C>T
c.14304-33C>T (n.14304-33C>T)
c.14289-33C>T (n.14289-33C>T)
c.14286-33C>T (n.14286-33C>T)
c.14271-33C>T (n.14271-33C>T)
c.14301-33C>T (n.14301-33C>T)
c.14217-33C>T (n.14217-33C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38578113C>TCA2814346177RYR1c.1240-31C>T
c.2637-31C>T
c.2609-31C>T
c.14304-31C>T (n.14304-31C>T)
c.14289-31C>T (n.14289-31C>T)
c.14286-31C>T (n.14286-31C>T)
c.14271-31C>T (n.14271-31C>T)
c.14301-31C>T (n.14301-31C>T)
c.14217-31C>T (n.14217-31C>T)
19g.38578114A>CCA2584910712RYR1c.1240-30A>C
c.2637-30A>C
c.2609-30A>C
c.14304-30A>C (n.14304-30A>C)
c.14289-30A>C (n.14289-30A>C)
c.14286-30A>C (n.14286-30A>C)
c.14271-30A>C (n.14271-30A>C)
c.14301-30A>C (n.14301-30A>C)
c.14217-30A>C (n.14217-30A>C)
 gnomAD v4
19g.38578115A=CA2335091371RYR1c.1240-29A=
c.2637-29A=
c.2609-29A=
c.14304-29A= (n.14304-29A=)
c.14289-29A= (n.14289-29A=)
c.14286-29A= (n.14286-29A=)
c.14271-29A= (n.14271-29A=)
c.14301-29A= (n.14301-29A=)
c.14217-29A= (n.14217-29A=)
19g.38578115A>GCA061095RYR1c.1240-29A>G
c.2637-29A>G
c.2609-29A>G
c.14304-29A>G (n.14304-29A>G)
c.14289-29A>G (n.14289-29A>G)
c.14286-29A>G (n.14286-29A>G)
c.14271-29A>G (n.14271-29A>G)
c.14301-29A>G (n.14301-29A>G)
c.14217-29A>G (n.14217-29A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38578117C=CA2335091372RYR1c.1240-27C=
c.2637-27C=
c.2609-27C=
c.14304-27C= (n.14304-27C=)
c.14289-27C= (n.14289-27C=)
c.14286-27C= (n.14286-27C=)
c.14271-27C= (n.14271-27C=)
c.14301-27C= (n.14301-27C=)
c.14217-27C= (n.14217-27C=)
19g.38578117C>GCA061094RYR1c.1240-27C>G
c.2637-27C>G
c.2609-27C>G
c.14304-27C>G (n.14304-27C>G)
c.14289-27C>G (n.14289-27C>G)
c.14286-27C>G (n.14286-27C>G)
c.14271-27C>G (n.14271-27C>G)
c.14301-27C>G (n.14301-27C>G)
c.14217-27C>G (n.14217-27C>G)
 dbSNP ExAC gnomAD v2
19g.38578117C>TCA2335091373RYR1c.1240-27C>T
c.2637-27C>T
c.2609-27C>T
c.14304-27C>T (n.14304-27C>T)
c.14289-27C>T (n.14289-27C>T)
c.14286-27C>T (n.14286-27C>T)
c.14271-27C>T (n.14271-27C>T)
c.14301-27C>T (n.14301-27C>T)
c.14217-27C>T (n.14217-27C>T)
 dbSNP
19g.38578118A=CA2335091374RYR1c.1240-26A=
c.2637-26A=
c.2609-26A=
c.14304-26A= (n.14304-26A=)
c.14289-26A= (n.14289-26A=)
c.14286-26A= (n.14286-26A=)
c.14271-26A= (n.14271-26A=)
c.14301-26A= (n.14301-26A=)
c.14217-26A= (n.14217-26A=)
19g.38578118A>CCA2584910713RYR1c.1240-26A>C
c.2637-26A>C
c.2609-26A>C
c.14304-26A>C (n.14304-26A>C)
c.14289-26A>C (n.14289-26A>C)
c.14286-26A>C (n.14286-26A>C)
c.14271-26A>C (n.14271-26A>C)
c.14301-26A>C (n.14301-26A>C)
c.14217-26A>C (n.14217-26A>C)
 gnomAD v4
19g.38578118A>GCA081178RYR1c.1240-26A>G
c.2637-26A>G
c.2609-26A>G
c.14304-26A>G (n.14304-26A>G)
c.14289-26A>G (n.14289-26A>G)
c.14286-26A>G (n.14286-26A>G)
c.14271-26A>G (n.14271-26A>G)
c.14301-26A>G (n.14301-26A>G)
c.14217-26A>G (n.14217-26A>G)
 dbSNP gnomAD v3 gnomAD v4
19g.38578120C>GCA081177RYR1c.1240-24C>G
c.2637-24C>G
c.2609-24C>G
c.14304-24C>G (n.14304-24C>G)
c.14289-24C>G (n.14289-24C>G)
c.14286-24C>G (n.14286-24C>G)
c.14271-24C>G (n.14271-24C>G)
c.14301-24C>G (n.14301-24C>G)
c.14217-24C>G (n.14217-24C>G)
19g.38578122C=CA2335091375RYR1c.1240-22C=
c.2637-22C=
c.2609-22C=
c.14304-22C= (n.14304-22C=)
c.14289-22C= (n.14289-22C=)
c.14286-22C= (n.14286-22C=)
c.14271-22C= (n.14271-22C=)
c.14301-22C= (n.14301-22C=)
c.14217-22C= (n.14217-22C=)
19g.38578122C>GCA2335091376RYR1c.1240-22C>G
c.2637-22C>G
c.2609-22C>G
c.14304-22C>G (n.14304-22C>G)
c.14289-22C>G (n.14289-22C>G)
c.14286-22C>G (n.14286-22C>G)
c.14271-22C>G (n.14271-22C>G)
c.14301-22C>G (n.14301-22C>G)
c.14217-22C>G (n.14217-22C>G)
 dbSNP
19g.38578122C>TCA061092RYR1c.1240-22C>T
c.2637-22C>T
c.2609-22C>T
c.14304-22C>T (n.14304-22C>T)
c.14289-22C>T (n.14289-22C>T)
c.14286-22C>T (n.14286-22C>T)
c.14271-22C>T (n.14271-22C>T)
c.14301-22C>T (n.14301-22C>T)
c.14217-22C>T (n.14217-22C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38578122_38578123insGGGGCA2736062886RYR1c.1240-22_1240-21insGGGG
c.2637-22_2637-21insGGGG
c.2609-22_2609-21insGGGG
c.14304-22_14304-21insGGGG (n.14304-22_14304-21insGGGG)
c.14289-22_14289-21insGGGG (n.14289-22_14289-21insGGGG)
c.14286-22_14286-21insGGGG (n.14286-22_14286-21insGGGG)
c.14271-22_14271-21insGGGG (n.14271-22_14271-21insGGGG)
c.14301-22_14301-21insGGGG (n.14301-22_14301-21insGGGG)
c.14217-22_14217-21insGGGG (n.14217-22_14217-21insGGGG)
 dbSNP
19g.38578122_38578123insGGGGGGCA2736062808RYR1c.1240-22_1240-21insGGGGGG
c.2637-22_2637-21insGGGGGG
c.2609-22_2609-21insGGGGGG
c.14304-22_14304-21insGGGGGG (n.14304-22_14304-21insGGGGGG)
c.14289-22_14289-21insGGGGGG (n.14289-22_14289-21insGGGGGG)
c.14286-22_14286-21insGGGGGG (n.14286-22_14286-21insGGGGGG)
c.14271-22_14271-21insGGGGGG (n.14271-22_14271-21insGGGGGG)
c.14301-22_14301-21insGGGGGG (n.14301-22_14301-21insGGGGGG)
c.14217-22_14217-21insGGGGGG (n.14217-22_14217-21insGGGGGG)
 dbSNP
19g.38578123T>CCA2736062807RYR1c.1240-21T>C
c.2637-21T>C
c.2609-21T>C
c.14304-21T>C (n.14304-21T>C)
c.14289-21T>C (n.14289-21T>C)
c.14286-21T>C (n.14286-21T>C)
c.14271-21T>C (n.14271-21T>C)
c.14301-21T>C (n.14301-21T>C)
c.14217-21T>C (n.14217-21T>C)
 dbSNP
19g.38578123T>GCA2736062734RYR1c.1240-21T>G
c.2637-21T>G
c.2609-21T>G
c.14304-21T>G (n.14304-21T>G)
c.14289-21T>G (n.14289-21T>G)
c.14286-21T>G (n.14286-21T>G)
c.14271-21T>G (n.14271-21T>G)
c.14301-21T>G (n.14301-21T>G)
c.14217-21T>G (n.14217-21T>G)
 dbSNP
19g.38578123_38578124insGCA2584910726RYR1c.1240-21_1240-20insG
c.2637-21_2637-20insG
c.2609-21_2609-20insG
c.14304-21_14304-20insG (n.14304-21_14304-20insG)
c.14289-21_14289-20insG (n.14289-21_14289-20insG)
c.14286-21_14286-20insG (n.14286-21_14286-20insG)
c.14271-21_14271-20insG (n.14271-21_14271-20insG)
c.14301-21_14301-20insG (n.14301-21_14301-20insG)
c.14217-21_14217-20insG (n.14217-21_14217-20insG)
 gnomAD v4
19g.38578123_38578124insGGCA2584910720RYR1c.1240-21_1240-20insGG
c.2637-21_2637-20insGG
c.2609-21_2609-20insGG
c.14304-21_14304-20insGG (n.14304-21_14304-20insGG)
c.14289-21_14289-20insGG (n.14289-21_14289-20insGG)
c.14286-21_14286-20insGG (n.14286-21_14286-20insGG)
c.14271-21_14271-20insGG (n.14271-21_14271-20insGG)
c.14301-21_14301-20insGG (n.14301-21_14301-20insGG)
c.14217-21_14217-20insGG (n.14217-21_14217-20insGG)
 gnomAD v4
19g.38578123_38578124insGCCCA2584910722RYR1c.1240-21_1240-20insGCC
c.2637-21_2637-20insGCC
c.2609-21_2609-20insGCC
c.14304-21_14304-20insGCC (n.14304-21_14304-20insGCC)
c.14289-21_14289-20insGCC (n.14289-21_14289-20insGCC)
c.14286-21_14286-20insGCC (n.14286-21_14286-20insGCC)
c.14271-21_14271-20insGCC (n.14271-21_14271-20insGCC)
c.14301-21_14301-20insGCC (n.14301-21_14301-20insGCC)
c.14217-21_14217-20insGCC (n.14217-21_14217-20insGCC)
 gnomAD v4
19g.38578123_38578124insGGCCA2584910719RYR1c.1240-21_1240-20insGGC
c.2637-21_2637-20insGGC
c.2609-21_2609-20insGGC
c.14304-21_14304-20insGGC (n.14304-21_14304-20insGGC)
c.14289-21_14289-20insGGC (n.14289-21_14289-20insGGC)
c.14286-21_14286-20insGGC (n.14286-21_14286-20insGGC)
c.14271-21_14271-20insGGC (n.14271-21_14271-20insGGC)
c.14301-21_14301-20insGGC (n.14301-21_14301-20insGGC)
c.14217-21_14217-20insGGC (n.14217-21_14217-20insGGC)
 gnomAD v4
19g.38578123_38578124insGGGCA2584910717RYR1c.1240-21_1240-20insGGG
c.2637-21_2637-20insGGG
c.2609-21_2609-20insGGG
c.14304-21_14304-20insGGG (n.14304-21_14304-20insGGG)
c.14289-21_14289-20insGGG (n.14289-21_14289-20insGGG)
c.14286-21_14286-20insGGG (n.14286-21_14286-20insGGG)
c.14271-21_14271-20insGGG (n.14271-21_14271-20insGGG)
c.14301-21_14301-20insGGG (n.14301-21_14301-20insGGG)
c.14217-21_14217-20insGGG (n.14217-21_14217-20insGGG)
 dbSNP gnomAD v4
19g.38578123_38578124insGGGGCA2736063035RYR1c.1240-21_1240-20insGGGG
c.2637-21_2637-20insGGGG
c.2609-21_2609-20insGGGG
c.14304-21_14304-20insGGGG (n.14304-21_14304-20insGGGG)
c.14289-21_14289-20insGGGG (n.14289-21_14289-20insGGGG)
c.14286-21_14286-20insGGGG (n.14286-21_14286-20insGGGG)
c.14271-21_14271-20insGGGG (n.14271-21_14271-20insGGGG)
c.14301-21_14301-20insGGGG (n.14301-21_14301-20insGGGG)
c.14217-21_14217-20insGGGG (n.14217-21_14217-20insGGGG)
 dbSNP
19g.38578123_38578124insGCCCCCCA2584910721RYR1c.1240-21_1240-20insGCCCCC
c.2637-21_2637-20insGCCCCC
c.2609-21_2609-20insGCCCCC
c.14304-21_14304-20insGCCCCC (n.14304-21_14304-20insGCCCCC)
c.14289-21_14289-20insGCCCCC (n.14289-21_14289-20insGCCCCC)
c.14286-21_14286-20insGCCCCC (n.14286-21_14286-20insGCCCCC)
c.14271-21_14271-20insGCCCCC (n.14271-21_14271-20insGCCCCC)
c.14301-21_14301-20insGCCCCC (n.14301-21_14301-20insGCCCCC)
c.14217-21_14217-20insGCCCCC (n.14217-21_14217-20insGCCCCC)
 gnomAD v4
19g.38578123_38578124insGGGGCCCA2736063050RYR1c.1240-21_1240-20insGGGGCC
c.2637-21_2637-20insGGGGCC
c.2609-21_2609-20insGGGGCC
c.14304-21_14304-20insGGGGCC (n.14304-21_14304-20insGGGGCC)
c.14289-21_14289-20insGGGGCC (n.14289-21_14289-20insGGGGCC)
c.14286-21_14286-20insGGGGCC (n.14286-21_14286-20insGGGGCC)
c.14271-21_14271-20insGGGGCC (n.14271-21_14271-20insGGGGCC)
c.14301-21_14301-20insGGGGCC (n.14301-21_14301-20insGGGGCC)
c.14217-21_14217-20insGGGGCC (n.14217-21_14217-20insGGGGCC)
 dbSNP
19g.38578123_38578124insGGCCCCCCCCCA2584910718RYR1c.1240-21_1240-20insGGCCCCCCCC
c.2637-21_2637-20insGGCCCCCCCC
c.2609-21_2609-20insGGCCCCCCCC
c.14304-21_14304-20insGGCCCCCCCC (n.14304-21_14304-20insGGCCCCCCCC)
c.14289-21_14289-20insGGCCCCCCCC (n.14289-21_14289-20insGGCCCCCCCC)
c.14286-21_14286-20insGGCCCCCCCC (n.14286-21_14286-20insGGCCCCCCCC)
c.14271-21_14271-20insGGCCCCCCCC (n.14271-21_14271-20insGGCCCCCCCC)
c.14301-21_14301-20insGGCCCCCCCC (n.14301-21_14301-20insGGCCCCCCCC)
c.14217-21_14217-20insGGCCCCCCCC (n.14217-21_14217-20insGGCCCCCCCC)
 gnomAD v4
19g.38578124C>GCA2584910715RYR1c.1240-20C>G
c.2637-20C>G
c.2609-20C>G
c.14304-20C>G (n.14304-20C>G)
c.14289-20C>G (n.14289-20C>G)
c.14286-20C>G (n.14286-20C>G)
c.14271-20C>G (n.14271-20C>G)
c.14301-20C>G (n.14301-20C>G)
c.14217-20C>G (n.14217-20C>G)
 gnomAD v4
19g.38578124C>TCA2584910714RYR1c.1240-20C>T
c.2637-20C>T
c.2609-20C>T
c.14304-20C>T (n.14304-20C>T)
c.14289-20C>T (n.14289-20C>T)
c.14286-20C>T (n.14286-20C>T)
c.14271-20C>T (n.14271-20C>T)
c.14301-20C>T (n.14301-20C>T)
c.14217-20C>T (n.14217-20C>T)
 gnomAD v4
19g.38578127_38578128insCCCCCCA632876654RYR1c.1240-17_1240-16insCCCCC
c.2637-17_2637-16insCCCCC
c.2609-17_2609-16insCCCCC
c.14304-17_14304-16insCCCCC (n.14304-17_14304-16insCCCCC)
c.14289-17_14289-16insCCCCC (n.14289-17_14289-16insCCCCC)
c.14286-17_14286-16insCCCCC (n.14286-17_14286-16insCCCCC)
c.14271-17_14271-16insCCCCC (n.14271-17_14271-16insCCCCC)
c.14301-17_14301-16insCCCCC (n.14301-17_14301-16insCCCCC)
c.14217-17_14217-16insCCCCC (n.14217-17_14217-16insCCCCC)
 gnomAD v2 gnomAD v4
19g.38578127_38578128insCCCCCCCA632876656RYR1c.1240-17_1240-16insCCCCCC
c.2637-17_2637-16insCCCCCC
c.2609-17_2609-16insCCCCCC
c.14304-17_14304-16insCCCCCC (n.14304-17_14304-16insCCCCCC)
c.14289-17_14289-16insCCCCCC (n.14289-17_14289-16insCCCCCC)
c.14286-17_14286-16insCCCCCC (n.14286-17_14286-16insCCCCCC)
c.14271-17_14271-16insCCCCCC (n.14271-17_14271-16insCCCCCC)
c.14301-17_14301-16insCCCCCC (n.14301-17_14301-16insCCCCCC)
c.14217-17_14217-16insCCCCCC (n.14217-17_14217-16insCCCCCC)
 gnomAD v2 gnomAD v4
19g.38578127_38578128insCCCCCCCCA2584910724RYR1c.1240-17_1240-16insCCCCCCC
c.2637-17_2637-16insCCCCCCC
c.2609-17_2609-16insCCCCCCC
c.14304-17_14304-16insCCCCCCC (n.14304-17_14304-16insCCCCCCC)
c.14289-17_14289-16insCCCCCCC (n.14289-17_14289-16insCCCCCCC)
c.14286-17_14286-16insCCCCCCC (n.14286-17_14286-16insCCCCCCC)
c.14271-17_14271-16insCCCCCCC (n.14271-17_14271-16insCCCCCCC)
c.14301-17_14301-16insCCCCCCC (n.14301-17_14301-16insCCCCCCC)
c.14217-17_14217-16insCCCCCCC (n.14217-17_14217-16insCCCCCCC)
 gnomAD v4
19g.38578127_38578128insCCCCCCCCCA632876657RYR1c.1240-17_1240-16insCCCCCCCC
c.2637-17_2637-16insCCCCCCCC
c.2609-17_2609-16insCCCCCCCC
c.14304-17_14304-16insCCCCCCCC (n.14304-17_14304-16insCCCCCCCC)
c.14289-17_14289-16insCCCCCCCC (n.14289-17_14289-16insCCCCCCCC)
c.14286-17_14286-16insCCCCCCCC (n.14286-17_14286-16insCCCCCCCC)
c.14271-17_14271-16insCCCCCCCC (n.14271-17_14271-16insCCCCCCCC)
c.14301-17_14301-16insCCCCCCCC (n.14301-17_14301-16insCCCCCCCC)
c.14217-17_14217-16insCCCCCCCC (n.14217-17_14217-16insCCCCCCCC)
 gnomAD v2 gnomAD v4
19g.38578127_38578128insCCCCCCCCCCA632876660RYR1c.1240-17_1240-16insCCCCCCCCC
c.2637-17_2637-16insCCCCCCCCC
c.2609-17_2609-16insCCCCCCCCC
c.14304-17_14304-16insCCCCCCCCC (n.14304-17_14304-16insCCCCCCCCC)
c.14289-17_14289-16insCCCCCCCCC (n.14289-17_14289-16insCCCCCCCCC)
c.14286-17_14286-16insCCCCCCCCC (n.14286-17_14286-16insCCCCCCCCC)
c.14271-17_14271-16insCCCCCCCCC (n.14271-17_14271-16insCCCCCCCCC)
c.14301-17_14301-16insCCCCCCCCC (n.14301-17_14301-16insCCCCCCCCC)
c.14217-17_14217-16insCCCCCCCCC (n.14217-17_14217-16insCCCCCCCCC)
 gnomAD v2 gnomAD v4
19g.38578127_38578128insCCCCCCCCCCCA632876661RYR1c.1240-17_1240-16insCCCCCCCCCC
c.2637-17_2637-16insCCCCCCCCCC
c.2609-17_2609-16insCCCCCCCCCC
c.14304-17_14304-16insCCCCCCCCCC (n.14304-17_14304-16insCCCCCCCCCC)
c.14289-17_14289-16insCCCCCCCCCC (n.14289-17_14289-16insCCCCCCCCCC)
c.14286-17_14286-16insCCCCCCCCCC (n.14286-17_14286-16insCCCCCCCCCC)
c.14271-17_14271-16insCCCCCCCCCC (n.14271-17_14271-16insCCCCCCCCCC)
c.14301-17_14301-16insCCCCCCCCCC (n.14301-17_14301-16insCCCCCCCCCC)
c.14217-17_14217-16insCCCCCCCCCC (n.14217-17_14217-16insCCCCCCCCCC)
 gnomAD v2 gnomAD v4
19g.38578127_38578128insCCCCCCCCCCCCA2584910723RYR1c.1240-17_1240-16insCCCCCCCCCCC
c.2637-17_2637-16insCCCCCCCCCCC
c.2609-17_2609-16insCCCCCCCCCCC
c.14304-17_14304-16insCCCCCCCCCCC (n.14304-17_14304-16insCCCCCCCCCCC)
c.14289-17_14289-16insCCCCCCCCCCC (n.14289-17_14289-16insCCCCCCCCCCC)
c.14286-17_14286-16insCCCCCCCCCCC (n.14286-17_14286-16insCCCCCCCCCCC)
c.14271-17_14271-16insCCCCCCCCCCC (n.14271-17_14271-16insCCCCCCCCCCC)
c.14301-17_14301-16insCCCCCCCCCCC (n.14301-17_14301-16insCCCCCCCCCCC)
c.14217-17_14217-16insCCCCCCCCCCC (n.14217-17_14217-16insCCCCCCCCCCC)
 gnomAD v4
19g.38578125_38578127dupCA2584910725RYR1c.1240-19_1240-17dup
c.2637-19_2637-17dup
c.2609-19_2609-17dup
c.14304-19_14304-17dup (n.14304-19_14304-17dup)
c.14289-19_14289-17dup (n.14289-19_14289-17dup)
c.14286-19_14286-17dup (n.14286-19_14286-17dup)
c.14271-19_14271-17dup (n.14271-19_14271-17dup)
c.14301-19_14301-17dup (n.14301-19_14301-17dup)
c.14217-19_14217-17dup (n.14217-19_14217-17dup)
 gnomAD v4
19g.38578128_38578133delCA2584910716RYR1c.1240-16_1240-11del
c.2637-16_2637-11del
c.2609-16_2609-11del
c.14304-16_14304-11del (n.14304-16_14304-11del)
c.14289-16_14289-11del (n.14289-16_14289-11del)
c.14286-16_14286-11del (n.14286-16_14286-11del)
c.14271-16_14271-11del (n.14271-16_14271-11del)
c.14301-16_14301-11del (n.14301-16_14301-11del)
c.14217-16_14217-11del (n.14217-16_14217-11del)
 gnomAD v4
19g.38578125C>ACA308120276RYR1c.1240-19C>A
c.2637-19C>A
c.2609-19C>A
c.14304-19C>A (n.14304-19C>A)
c.14289-19C>A (n.14289-19C>A)
c.14286-19C>A (n.14286-19C>A)
c.14271-19C>A (n.14271-19C>A)
c.14301-19C>A (n.14301-19C>A)
c.14217-19C>A (n.14217-19C>A)
 dbSNP gnomAD v4
19g.38578125C=CA2335091377RYR1c.1240-19C=
c.2637-19C=
c.2609-19C=
c.14304-19C= (n.14304-19C=)
c.14289-19C= (n.14289-19C=)
c.14286-19C= (n.14286-19C=)
c.14271-19C= (n.14271-19C=)
c.14301-19C= (n.14301-19C=)
c.14217-19C= (n.14217-19C=)
19g.38578125C>GCA2584910727RYR1c.1240-19C>G
c.2637-19C>G
c.2609-19C>G
c.14304-19C>G (n.14304-19C>G)
c.14289-19C>G (n.14289-19C>G)
c.14286-19C>G (n.14286-19C>G)
c.14271-19C>G (n.14271-19C>G)
c.14301-19C>G (n.14301-19C>G)
c.14217-19C>G (n.14217-19C>G)
 gnomAD v4
19g.38578125C>TCA081176RYR1c.1240-19C>T
c.2637-19C>T
c.2609-19C>T
c.14304-19C>T (n.14304-19C>T)
c.14289-19C>T (n.14289-19C>T)
c.14286-19C>T (n.14286-19C>T)
c.14271-19C>T (n.14271-19C>T)
c.14301-19C>T (n.14301-19C>T)
c.14217-19C>T (n.14217-19C>T)
 dbSNP gnomAD v2
19g.38578126C>ACA2576827479RYR1c.1240-18C>A
c.2637-18C>A
c.2609-18C>A
c.14304-18C>A (n.14304-18C>A)
c.14289-18C>A (n.14289-18C>A)
c.14286-18C>A (n.14286-18C>A)
c.14271-18C>A (n.14271-18C>A)
c.14301-18C>A (n.14301-18C>A)
c.14217-18C>A (n.14217-18C>A)
19g.38578126C>TCA2584910728RYR1c.1240-18C>T
c.2637-18C>T
c.2609-18C>T
c.14304-18C>T (n.14304-18C>T)
c.14289-18C>T (n.14289-18C>T)
c.14286-18C>T (n.14286-18C>T)
c.14271-18C>T (n.14271-18C>T)
c.14301-18C>T (n.14301-18C>T)
c.14217-18C>T (n.14217-18C>T)
 ClinVar gnomAD v4
19g.38578127C=CA2335091378RYR1c.1240-17C=
c.2637-17C=
c.2609-17C=
c.14304-17C= (n.14304-17C=)
c.14289-17C= (n.14289-17C=)
c.14286-17C= (n.14286-17C=)
c.14271-17C= (n.14271-17C=)
c.14301-17C= (n.14301-17C=)
c.14217-17C= (n.14217-17C=)
19g.38578127C>TCA632876662RYR1c.1240-17C>T
c.2637-17C>T
c.2609-17C>T
c.14304-17C>T (n.14304-17C>T)
c.14289-17C>T (n.14289-17C>T)
c.14286-17C>T (n.14286-17C>T)
c.14271-17C>T (n.14271-17C>T)
c.14301-17C>T (n.14301-17C>T)
c.14217-17C>T (n.14217-17C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38578128_38578129delCA2584910729RYR1c.1240-16_1240-15del
c.2637-16_2637-15del
c.2609-16_2609-15del
c.14304-16_14304-15del (n.14304-16_14304-15del)
c.14289-16_14289-15del (n.14289-16_14289-15del)
c.14286-16_14286-15del (n.14286-16_14286-15del)
c.14271-16_14271-15del (n.14271-16_14271-15del)
c.14301-16_14301-15del (n.14301-16_14301-15del)
c.14217-16_14217-15del (n.14217-16_14217-15del)
 gnomAD v4
19g.38578128delCA2584910731RYR1c.1240-16del
c.2637-16del
c.2609-16del
c.14304-16del (n.14304-16del)
c.14289-16del (n.14289-16del)
c.14286-16del (n.14286-16del)
c.14271-16del (n.14271-16del)
c.14301-16del (n.14301-16del)
c.14217-16del (n.14217-16del)
 gnomAD v4
19g.38578128A=CA2335091379RYR1c.1240-16A=
c.2637-16A=
c.2609-16A=
c.14304-16A= (n.14304-16A=)
c.14289-16A= (n.14289-16A=)
c.14286-16A= (n.14286-16A=)
c.14271-16A= (n.14271-16A=)
c.14301-16A= (n.14301-16A=)
c.14217-16A= (n.14217-16A=)
19g.38578128A>CCA061088RYR1c.1240-16A>C
c.2637-16A>C
c.2609-16A>C
c.14304-16A>C (n.14304-16A>C)
c.14289-16A>C (n.14289-16A>C)
c.14286-16A>C (n.14286-16A>C)
c.14271-16A>C (n.14271-16A>C)
c.14301-16A>C (n.14301-16A>C)
c.14217-16A>C (n.14217-16A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38578128A>TCA2584910730RYR1c.1240-16A>T
c.2637-16A>T
c.2609-16A>T
c.14304-16A>T (n.14304-16A>T)
c.14289-16A>T (n.14289-16A>T)
c.14286-16A>T (n.14286-16A>T)
c.14271-16A>T (n.14271-16A>T)
c.14301-16A>T (n.14301-16A>T)
c.14217-16A>T (n.14217-16A>T)
 gnomAD v4
19g.38578129C>ACA2825002806RYR1c.1240-15C>A
c.2637-15C>A
c.2609-15C>A
c.14304-15C>A (n.14304-15C>A)
c.14289-15C>A (n.14289-15C>A)
c.14286-15C>A (n.14286-15C>A)
c.14271-15C>A (n.14271-15C>A)
c.14301-15C>A (n.14301-15C>A)
c.14217-15C>A (n.14217-15C>A)
 ClinVar
19g.38578129C=CA2335091380RYR1c.1240-15C=
c.2637-15C=
c.2609-15C=
c.14304-15C= (n.14304-15C=)
c.14289-15C= (n.14289-15C=)
c.14286-15C= (n.14286-15C=)
c.14271-15C= (n.14271-15C=)
c.14301-15C= (n.14301-15C=)
c.14217-15C= (n.14217-15C=)
19g.38578129C>TCA632876673RYR1c.1240-15C>T
c.2637-15C>T
c.2609-15C>T
c.14304-15C>T (n.14304-15C>T)
c.14289-15C>T (n.14289-15C>T)
c.14286-15C>T (n.14286-15C>T)
c.14271-15C>T (n.14271-15C>T)
c.14301-15C>T (n.14301-15C>T)
c.14217-15C>T (n.14217-15C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38578133_38578134insCCCCCCCA632876665RYR1c.1240-11_1240-10insCCCCCC
c.2637-11_2637-10insCCCCCC
c.2609-11_2609-10insCCCCCC
c.14304-11_14304-10insCCCCCC (n.14304-11_14304-10insCCCCCC)
c.14289-11_14289-10insCCCCCC (n.14289-11_14289-10insCCCCCC)
c.14286-11_14286-10insCCCCCC (n.14286-11_14286-10insCCCCCC)
c.14271-11_14271-10insCCCCCC (n.14271-11_14271-10insCCCCCC)
c.14301-11_14301-10insCCCCCC (n.14301-11_14301-10insCCCCCC)
c.14217-11_14217-10insCCCCCC (n.14217-11_14217-10insCCCCCC)
 gnomAD v2 gnomAD v4
19g.38578133_38578134insCCCCCCCCCA632876666RYR1c.1240-11_1240-10insCCCCCCCC
c.2637-11_2637-10insCCCCCCCC
c.2609-11_2609-10insCCCCCCCC
c.14304-11_14304-10insCCCCCCCC (n.14304-11_14304-10insCCCCCCCC)
c.14289-11_14289-10insCCCCCCCC (n.14289-11_14289-10insCCCCCCCC)
c.14286-11_14286-10insCCCCCCCC (n.14286-11_14286-10insCCCCCCCC)
c.14271-11_14271-10insCCCCCCCC (n.14271-11_14271-10insCCCCCCCC)
c.14301-11_14301-10insCCCCCCCC (n.14301-11_14301-10insCCCCCCCC)
c.14217-11_14217-10insCCCCCCCC (n.14217-11_14217-10insCCCCCCCC)
 gnomAD v2 gnomAD v4
19g.38578133_38578134insCCCCCCCCCCA632876669RYR1c.1240-11_1240-10insCCCCCCCCC
c.2637-11_2637-10insCCCCCCCCC
c.2609-11_2609-10insCCCCCCCCC
c.14304-11_14304-10insCCCCCCCCC (n.14304-11_14304-10insCCCCCCCCC)
c.14289-11_14289-10insCCCCCCCCC (n.14289-11_14289-10insCCCCCCCCC)
c.14286-11_14286-10insCCCCCCCCC (n.14286-11_14286-10insCCCCCCCCC)
c.14271-11_14271-10insCCCCCCCCC (n.14271-11_14271-10insCCCCCCCCC)
c.14301-11_14301-10insCCCCCCCCC (n.14301-11_14301-10insCCCCCCCCC)
c.14217-11_14217-10insCCCCCCCCC (n.14217-11_14217-10insCCCCCCCCC)
 gnomAD v2 gnomAD v4
19g.38578133_38578134insCCCCCCCCCCCA632876671RYR1c.1240-11_1240-10insCCCCCCCCCC
c.2637-11_2637-10insCCCCCCCCCC
c.2609-11_2609-10insCCCCCCCCCC
c.14304-11_14304-10insCCCCCCCCCC (n.14304-11_14304-10insCCCCCCCCCC)
c.14289-11_14289-10insCCCCCCCCCC (n.14289-11_14289-10insCCCCCCCCCC)
c.14286-11_14286-10insCCCCCCCCCC (n.14286-11_14286-10insCCCCCCCCCC)
c.14271-11_14271-10insCCCCCCCCCC (n.14271-11_14271-10insCCCCCCCCCC)
c.14301-11_14301-10insCCCCCCCCCC (n.14301-11_14301-10insCCCCCCCCCC)
c.14217-11_14217-10insCCCCCCCCCC (n.14217-11_14217-10insCCCCCCCCCC)
 gnomAD v2 gnomAD v4
19g.38578132_38578133dupCA2584910732RYR1c.1240-12_1240-11dup
c.2637-12_2637-11dup
c.2609-12_2609-11dup
c.14304-12_14304-11dup (n.14304-12_14304-11dup)
c.14289-12_14289-11dup (n.14289-12_14289-11dup)
c.14286-12_14286-11dup (n.14286-12_14286-11dup)
c.14271-12_14271-11dup (n.14271-12_14271-11dup)
c.14301-12_14301-11dup (n.14301-12_14301-11dup)
c.14217-12_14217-11dup (n.14217-12_14217-11dup)
 gnomAD v4
19g.38578129_38578133dupCA2814346181RYR1c.1240-15_1240-11dup
c.2637-15_2637-11dup
c.2609-15_2609-11dup
c.14304-15_14304-11dup (n.14304-15_14304-11dup)
c.14289-15_14289-11dup (n.14289-15_14289-11dup)
c.14286-15_14286-11dup (n.14286-15_14286-11dup)
c.14271-15_14271-11dup (n.14271-15_14271-11dup)
c.14301-15_14301-11dup (n.14301-15_14301-11dup)
c.14217-15_14217-11dup (n.14217-15_14217-11dup)
19g.38578133delCA2576827480RYR1c.1240-11del
c.2637-11del
c.2609-11del
c.14304-11del (n.14304-11del)
c.14289-11del (n.14289-11del)
c.14286-11del (n.14286-11del)
c.14271-11del (n.14271-11del)
c.14301-11del (n.14301-11del)
c.14217-11del (n.14217-11del)
19g.38578134_38578139delCA2584910733RYR1c.1240-10_1240-5del
c.2637-10_2637-5del
c.2609-10_2609-5del
c.14304-10_14304-5del (n.14304-10_14304-5del)
c.14289-10_14289-5del (n.14289-10_14289-5del)
c.14286-10_14286-5del (n.14286-10_14286-5del)
c.14271-10_14271-5del (n.14271-10_14271-5del)
c.14301-10_14301-5del (n.14301-10_14301-5del)
c.14217-10_14217-5del (n.14217-10_14217-5del)
 gnomAD v4
19g.38578131C=CA2335091381RYR1c.1240-13C=
c.2637-13C=
c.2609-13C=
c.14304-13C= (n.14304-13C=)
c.14289-13C= (n.14289-13C=)
c.14286-13C= (n.14286-13C=)
c.14271-13C= (n.14271-13C=)
c.14301-13C= (n.14301-13C=)
c.14217-13C= (n.14217-13C=)
19g.38578131C>TCA882064295RYR1c.1240-13C>T
c.2637-13C>T
c.2609-13C>T
c.14304-13C>T (n.14304-13C>T)
c.14289-13C>T (n.14289-13C>T)
c.14286-13C>T (n.14286-13C>T)
c.14271-13C>T (n.14271-13C>T)
c.14301-13C>T (n.14301-13C>T)
c.14217-13C>T (n.14217-13C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38578132C>GCA2584910734RYR1c.1240-12C>G
c.2637-12C>G
c.2609-12C>G
c.14304-12C>G (n.14304-12C>G)
c.14289-12C>G (n.14289-12C>G)
c.14286-12C>G (n.14286-12C>G)
c.14271-12C>G (n.14271-12C>G)
c.14301-12C>G (n.14301-12C>G)
c.14217-12C>G (n.14217-12C>G)
 gnomAD v4
19g.38578132C>TCA2584910735RYR1c.1240-12C>T
c.2637-12C>T
c.2609-12C>T
c.14304-12C>T (n.14304-12C>T)
c.14289-12C>T (n.14289-12C>T)
c.14286-12C>T (n.14286-12C>T)
c.14271-12C>T (n.14271-12C>T)
c.14301-12C>T (n.14301-12C>T)
c.14217-12C>T (n.14217-12C>T)
 gnomAD v4
19g.38578133C>ACA061084RYR1c.1240-11C>A
c.2637-11C>A
c.2609-11C>A
c.14304-11C>A (n.14304-11C>A)
c.14289-11C>A (n.14289-11C>A)
c.14286-11C>A (n.14286-11C>A)
c.14271-11C>A (n.14271-11C>A)
c.14301-11C>A (n.14301-11C>A)
c.14217-11C>A (n.14217-11C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38578133C=CA2335091382RYR1c.1240-11C=
c.2637-11C=
c.2609-11C=
c.14304-11C= (n.14304-11C=)
c.14289-11C= (n.14289-11C=)
c.14286-11C= (n.14286-11C=)
c.14271-11C= (n.14271-11C=)
c.14301-11C= (n.14301-11C=)
c.14217-11C= (n.14217-11C=)
19g.38578133C>TCA061086RYR1c.1240-11C>T
c.2637-11C>T
c.2609-11C>T
c.14304-11C>T (n.14304-11C>T)
c.14289-11C>T (n.14289-11C>T)
c.14286-11C>T (n.14286-11C>T)
c.14271-11C>T (n.14271-11C>T)
c.14301-11C>T (n.14301-11C>T)
c.14217-11C>T (n.14217-11C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38578134G>ACA061080RYR1c.1240-10G>A
c.2637-10G>A
c.2609-10G>A
c.14304-10G>A (n.14304-10G>A)
c.14289-10G>A (n.14289-10G>A)
c.14286-10G>A (n.14286-10G>A)
c.14271-10G>A (n.14271-10G>A)
c.14301-10G>A (n.14301-10G>A)
c.14217-10G>A (n.14217-10G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38578134G>CCA061083RYR1c.1240-10G>C
c.2637-10G>C
c.2609-10G>C
c.14304-10G>C (n.14304-10G>C)
c.14289-10G>C (n.14289-10G>C)
c.14286-10G>C (n.14286-10G>C)
c.14271-10G>C (n.14271-10G>C)
c.14301-10G>C (n.14301-10G>C)
c.14217-10G>C (n.14217-10G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38578134G=CA2335091383RYR1c.1240-10G=
c.2637-10G=
c.2609-10G=
c.14304-10G= (n.14304-10G=)
c.14289-10G= (n.14289-10G=)
c.14286-10G= (n.14286-10G=)
c.14271-10G= (n.14271-10G=)
c.14301-10G= (n.14301-10G=)
c.14217-10G= (n.14217-10G=)
19g.38578134G>TCA2335091384RYR1c.1240-10G>T
c.2637-10G>T
c.2609-10G>T
c.14304-10G>T (n.14304-10G>T)
c.14289-10G>T (n.14289-10G>T)
c.14286-10G>T (n.14286-10G>T)
c.14271-10G>T (n.14271-10G>T)
c.14301-10G>T (n.14301-10G>T)
c.14217-10G>T (n.14217-10G>T)
 dbSNP
19g.38578135C>TCA2584910736RYR1c.1240-9C>T
c.2637-9C>T
c.2609-9C>T
c.14304-9C>T (n.14304-9C>T)
c.14289-9C>T (n.14289-9C>T)
c.14286-9C>T (n.14286-9C>T)
c.14271-9C>T (n.14271-9C>T)
c.14301-9C>T (n.14301-9C>T)
c.14217-9C>T (n.14217-9C>T)
 gnomAD v4
19g.38578139delCA2814346187RYR1c.1240-5del
c.2637-5del
c.2609-5del
c.14304-5del (n.14304-5del)
c.14289-5del (n.14289-5del)
c.14286-5del (n.14286-5del)
c.14271-5del (n.14271-5del)
c.14301-5del (n.14301-5del)
c.14217-5del (n.14217-5del)
19g.38578136C>ACA081173RYR1c.1240-8C>A
c.2637-8C>A
c.2609-8C>A
c.14304-8C>A (n.14304-8C>A)
c.14289-8C>A (n.14289-8C>A)
c.14286-8C>A (n.14286-8C>A)
c.14271-8C>A (n.14271-8C>A)
c.14301-8C>A (n.14301-8C>A)
c.14217-8C>A (n.14217-8C>A)
19g.38578136C>GCA2576827481RYR1c.1240-8C>G
c.2637-8C>G
c.2609-8C>G
c.14304-8C>G (n.14304-8C>G)
c.14289-8C>G (n.14289-8C>G)
c.14286-8C>G (n.14286-8C>G)
c.14271-8C>G (n.14271-8C>G)
c.14301-8C>G (n.14301-8C>G)
c.14217-8C>G (n.14217-8C>G)
19g.38578136C>TCA081174RYR1c.1240-8C>T
c.2637-8C>T
c.2609-8C>T
c.14304-8C>T (n.14304-8C>T)
c.14289-8C>T (n.14289-8C>T)
c.14286-8C>T (n.14286-8C>T)
c.14271-8C>T (n.14271-8C>T)
c.14301-8C>T (n.14301-8C>T)
c.14217-8C>T (n.14217-8C>T)
19g.38578137C>ACA2814346188RYR1c.1240-7C>A
c.2637-7C>A
c.2609-7C>A
c.14304-7C>A (n.14304-7C>A)
c.14289-7C>A (n.14289-7C>A)
c.14286-7C>A (n.14286-7C>A)
c.14271-7C>A (n.14271-7C>A)
c.14301-7C>A (n.14301-7C>A)
c.14217-7C>A (n.14217-7C>A)
19g.38578137C>TCA2584910737RYR1c.1240-7C>T
c.2637-7C>T
c.2609-7C>T
c.14304-7C>T (n.14304-7C>T)
c.14289-7C>T (n.14289-7C>T)
c.14286-7C>T (n.14286-7C>T)
c.14271-7C>T (n.14271-7C>T)
c.14301-7C>T (n.14301-7C>T)
c.14217-7C>T (n.14217-7C>T)
 gnomAD v4
19g.38578138C>ACA024125RYR1c.1240-6C>A
c.2637-6C>A
c.2609-6C>A
c.14304-6C>A (n.14304-6C>A)
c.14289-6C>A (n.14289-6C>A)
c.14286-6C>A (n.14286-6C>A)
c.14271-6C>A (n.14271-6C>A)
c.14301-6C>A (n.14301-6C>A)
c.14217-6C>A (n.14217-6C>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38578138C=CA2335091385RYR1c.1240-6C=
c.2637-6C=
c.2609-6C=
c.14304-6C= (n.14304-6C=)
c.14289-6C= (n.14289-6C=)
c.14286-6C= (n.14286-6C=)
c.14271-6C= (n.14271-6C=)
c.14301-6C= (n.14301-6C=)
c.14217-6C= (n.14217-6C=)
19g.38578138C>TCA632876679RYR1c.1240-6C>T
c.2637-6C>T
c.2609-6C>T
c.14304-6C>T (n.14304-6C>T)
c.14289-6C>T (n.14289-6C>T)
c.14286-6C>T (n.14286-6C>T)
c.14271-6C>T (n.14271-6C>T)
c.14301-6C>T (n.14301-6C>T)
c.14217-6C>T (n.14217-6C>T)
 dbSNP gnomAD v2
19g.38578139C>GCA2584910738RYR1c.1240-5C>G
c.2637-5C>G
c.2609-5C>G
c.14304-5C>G (n.14304-5C>G)
c.14289-5C>G (n.14289-5C>G)
c.14286-5C>G (n.14286-5C>G)
c.14271-5C>G (n.14271-5C>G)
c.14301-5C>G (n.14301-5C>G)
c.14217-5C>G (n.14217-5C>G)
 gnomAD v4
19g.38578140A=CA2335091386RYR1c.1240-4A=
c.2637-4A=
c.2609-4A=
c.14304-4A= (n.14304-4A=)
c.14289-4A= (n.14289-4A=)
c.14286-4A= (n.14286-4A=)
c.14271-4A= (n.14271-4A=)
c.14301-4A= (n.14301-4A=)
c.14217-4A= (n.14217-4A=)
19g.38578140A>CCA061100RYR1c.1240-4A>C
c.2637-4A>C
c.2609-4A>C
c.14304-4A>C (n.14304-4A>C)
c.14289-4A>C (n.14289-4A>C)
c.14286-4A>C (n.14286-4A>C)
c.14271-4A>C (n.14271-4A>C)
c.14301-4A>C (n.14301-4A>C)
c.14217-4A>C (n.14217-4A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38578140A>GCA2335091387RYR1c.1240-4A>G
c.2637-4A>G
c.2609-4A>G
c.14304-4A>G (n.14304-4A>G)
c.14289-4A>G (n.14289-4A>G)
c.14286-4A>G (n.14286-4A>G)
c.14271-4A>G (n.14271-4A>G)
c.14301-4A>G (n.14301-4A>G)
c.14217-4A>G (n.14217-4A>G)
 dbSNP
19g.38578141C>ACA891863040RYR1c.1240-3C>A
c.2637-3C>A
c.2609-3C>A
c.14304-3C>A (n.14304-3C>A)
c.14289-3C>A (n.14289-3C>A)
c.14286-3C>A (n.14286-3C>A)
c.14271-3C>A (n.14271-3C>A)
c.14301-3C>A (n.14301-3C>A)
c.14217-3C>A (n.14217-3C>A)
 ClinVar dbSNP gnomAD v4
19g.38578141C=CA2335091388RYR1c.1240-3C=
c.2637-3C=
c.2609-3C=
c.14304-3C= (n.14304-3C=)
c.14289-3C= (n.14289-3C=)
c.14286-3C= (n.14286-3C=)
c.14271-3C= (n.14271-3C=)
c.14301-3C= (n.14301-3C=)
c.14217-3C= (n.14217-3C=)
19g.38578142A=CA2335091389RYR1c.1240-2A=
c.2637-2A=
c.2609-2A=
c.14304-2A= (n.14304-2A=)
c.14289-2A= (n.14289-2A=)
c.14286-2A= (n.14286-2A=)
c.14271-2A= (n.14271-2A=)
c.14301-2A= (n.14301-2A=)
c.14217-2A= (n.14217-2A=)
19g.38578142A>CCA405684945RYR1c.1240-2A>C
c.2637-2A>C
c.2609-2A>C
c.14304-2A>C (n.14304-2A>C)
c.14289-2A>C (n.14289-2A>C)
c.14286-2A>C (n.14286-2A>C)
c.14271-2A>C (n.14271-2A>C)
c.14301-2A>C (n.14301-2A>C)
c.14217-2A>C (n.14217-2A>C)
 dbSNP gnomAD v4
19g.38578142A>GCA405684949RYR1c.1240-2A>G
c.2637-2A>G
c.2609-2A>G
c.14304-2A>G (n.14304-2A>G)
c.14289-2A>G (n.14289-2A>G)
c.14286-2A>G (n.14286-2A>G)
c.14271-2A>G (n.14271-2A>G)
c.14301-2A>G (n.14301-2A>G)
c.14217-2A>G (n.14217-2A>G)
 dbSNP gnomAD v2
19g.38578142A>TCA405684950RYR1c.1240-2A>T
c.2637-2A>T
c.2609-2A>T
c.14304-2A>T (n.14304-2A>T)
c.14289-2A>T (n.14289-2A>T)
c.14286-2A>T (n.14286-2A>T)
c.14271-2A>T (n.14271-2A>T)
c.14301-2A>T (n.14301-2A>T)
c.14217-2A>T (n.14217-2A>T)
 gnomAD v4
19g.38578143G>ACA405684952RYR1c.1240-1G>A
c.2637-1G>A
c.2609-1G>A
c.14304-1G>A (n.14304-1G>A)
c.14289-1G>A (n.14289-1G>A)
c.14286-1G>A (n.14286-1G>A)
c.14271-1G>A (n.14271-1G>A)
c.14301-1G>A (n.14301-1G>A)
c.14217-1G>A (n.14217-1G>A)
19g.38578143G>CCA405684959RYR1c.1240-1G>C
c.2637-1G>C
c.2609-1G>C
c.14304-1G>C (n.14304-1G>C)
c.14289-1G>C (n.14289-1G>C)
c.14286-1G>C (n.14286-1G>C)
c.14271-1G>C (n.14271-1G>C)
c.14301-1G>C (n.14301-1G>C)
c.14217-1G>C (n.14217-1G>C)
 gnomAD v4
19g.38578143G>TCA405684958RYR1c.1240-1G>T
c.2637-1G>T
c.2609-1G>T
c.14304-1G>T (n.14304-1G>T)
c.14289-1G>T (n.14289-1G>T)
c.14286-1G>T (n.14286-1G>T)
c.14271-1G>T (n.14271-1G>T)
c.14301-1G>T (n.14301-1G>T)
c.14217-1G>T (n.14217-1G>T)
19g.38578144G>ACA405684961RYR1c.1240G>A
c.2637G>A
c.2609G>A
c.14304G>A (p.Trp4768Ter)
c.14289G>A (p.Trp4763Ter)
c.14286G>A (p.Trp4762Ter)
c.14271G>A (p.Trp4757Ter)
c.14301G>A (p.Trp4767Ter)
c.14217G>A (p.Trp4739Ter)
19g.38578144G>CCA405684963RYR1c.1240G>C
c.2637G>C
c.2609G>C
c.14304G>C (p.Trp4768Cys)
c.14289G>C (p.Trp4763Cys)
c.14286G>C (p.Trp4762Cys)
c.14271G>C (p.Trp4757Cys)
c.14301G>C (p.Trp4767Cys)
c.14217G>C (p.Trp4739Cys)
 gnomAD v4
19g.38578144G=CA2335091390RYR1c.1240G=
c.2637G=
c.2609G=
c.14304G= (p.Trp4768=)
c.14289G= (p.Trp4763=)
c.14286G= (p.Trp4762=)
c.14271G= (p.Trp4757=)
c.14301G= (p.Trp4767=)
c.14217G= (p.Trp4739=)
19g.38578144G>TCA405684965RYR1c.1240G>T
c.2637G>T
c.2609G>T
c.14304G>T (p.Trp4768Cys)
c.14289G>T (p.Trp4763Cys)
c.14286G>T (p.Trp4762Cys)
c.14271G>T (p.Trp4757Cys)
c.14301G>T (p.Trp4767Cys)
c.14217G>T (p.Trp4739Cys)
 dbSNP
19g.38578145C>ACA405684967RYR1c.1241C>A
c.2638C>A
c.2610C>A
c.14305C>A (p.Leu4769Ile)
c.14290C>A (p.Leu4764Ile)
c.14287C>A (p.Leu4763Ile)
c.14272C>A (p.Leu4758Ile)
c.14302C>A (p.Leu4768Ile)
c.14218C>A (p.Leu4740Ile)
19g.38578145C=CA2335091391RYR1c.1241C=
c.2638C=
c.2610C=
c.14305C= (p.Leu4769=)
c.14290C= (p.Leu4764=)
c.14287C= (p.Leu4763=)
c.14272C= (p.Leu4758=)
c.14302C= (p.Leu4768=)
c.14218C= (p.Leu4740=)
19g.38578145C>GCA405684969RYR1c.1241C>G
c.2638C>G
c.2610C>G
c.14305C>G (p.Leu4769Val)
c.14290C>G (p.Leu4764Val)
c.14287C>G (p.Leu4763Val)
c.14272C>G (p.Leu4758Val)
c.14302C>G (p.Leu4768Val)
c.14218C>G (p.Leu4740Val)
 ClinVar dbSNP
19g.38578145C>TCA061104RYR1c.1241C>T
c.2638C>T
c.2610C>T
c.14305C>T (p.Leu4769Phe)
c.14290C>T (p.Leu4764Phe)
c.14287C>T (p.Leu4763Phe)
c.14272C>T (p.Leu4758Phe)
c.14302C>T (p.Leu4768Phe)
c.14218C>T (p.Leu4740Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38578146T>ACA405684988RYR1c.1242T>A
c.2639T>A
c.2611T>A
c.14306T>A (p.Leu4769His)
c.14291T>A (p.Leu4764His)
c.14288T>A (p.Leu4763His)
c.14273T>A (p.Leu4758His)
c.14303T>A (p.Leu4768His)
c.14219T>A (p.Leu4740His)
19g.38578146T>CCA405684992RYR1c.1242T>C
c.2639T>C
c.2611T>C
c.14306T>C (p.Leu4769Pro)
c.14291T>C (p.Leu4764Pro)
c.14288T>C (p.Leu4763Pro)
c.14273T>C (p.Leu4758Pro)
c.14303T>C (p.Leu4768Pro)
c.14219T>C (p.Leu4740Pro)
19g.38578146T>GCA405684994RYR1c.1242T>G
c.2639T>G
c.2611T>G
c.14306T>G (p.Leu4769Arg)
c.14291T>G (p.Leu4764Arg)
c.14288T>G (p.Leu4763Arg)
c.14273T>G (p.Leu4758Arg)
c.14303T>G (p.Leu4768Arg)
c.14219T>G (p.Leu4740Arg)
19g.38578147C>ACA507245918RYR1c.1243C>A
c.2640C>A
c.2612C>A
c.14307C>A (p.Leu4769=)
c.14292C>A (p.Leu4764=)
c.14289C>A (p.Leu4763=)
c.14274C>A (p.Leu4758=)
c.14304C>A (p.Leu4768=)
c.14220C>A (p.Leu4740=)
19g.38578147C=CA2335091392RYR1c.1243C=
c.2640C=
c.2612C=
c.14307C= (p.Leu4769=)
c.14292C= (p.Leu4764=)
c.14289C= (p.Leu4763=)
c.14274C= (p.Leu4758=)
c.14304C= (p.Leu4768=)
c.14220C= (p.Leu4740=)
19g.38578147C>GCA507245919RYR1c.1243C>G
c.2640C>G
c.2612C>G
c.14307C>G (p.Leu4769=)
c.14292C>G (p.Leu4764=)
c.14289C>G (p.Leu4763=)
c.14274C>G (p.Leu4758=)
c.14304C>G (p.Leu4768=)
c.14220C>G (p.Leu4740=)
19g.38578147C>TCA507245920RYR1c.1243C>T
c.2640C>T
c.2612C>T
c.14307C>T (p.Leu4769=)
c.14292C>T (p.Leu4764=)
c.14289C>T (p.Leu4763=)
c.14274C>T (p.Leu4758=)
c.14304C>T (p.Leu4768=)
c.14220C>T (p.Leu4740=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38578148A>CCA405684997RYR1c.1244A>C
c.2641A>C
c.2613A>C
c.14308A>C (p.Met4770Leu)
c.14293A>C (p.Met4765Leu)
c.14290A>C (p.Met4764Leu)
c.14275A>C (p.Met4759Leu)
c.14305A>C (p.Met4769Leu)
c.14221A>C (p.Met4741Leu)
 gnomAD v4
19g.38578148A>GCA405685001RYR1c.1244A>G
c.2641A>G
c.2613A>G
c.14308A>G (p.Met4770Val)
c.14293A>G (p.Met4765Val)
c.14290A>G (p.Met4764Val)
c.14275A>G (p.Met4759Val)
c.14305A>G (p.Met4769Val)
c.14221A>G (p.Met4741Val)
19g.38578148A>TCA405685013RYR1c.1244A>T
c.2641A>T
c.2613A>T
c.14308A>T (p.Met4770Leu)
c.14293A>T (p.Met4765Leu)
c.14290A>T (p.Met4764Leu)
c.14275A>T (p.Met4759Leu)
c.14305A>T (p.Met4769Leu)
c.14221A>T (p.Met4741Leu)
19g.38578149T>ACA405685020RYR1c.1245T>A
c.2642T>A
c.2614T>A
c.14309T>A (p.Met4770Lys)
c.14294T>A (p.Met4765Lys)
c.14291T>A (p.Met4764Lys)
c.14276T>A (p.Met4759Lys)
c.14306T>A (p.Met4769Lys)
c.14222T>A (p.Met4741Lys)
 gnomAD v4
19g.38578149T>CCA405685014RYR1c.1245T>C
c.2642T>C
c.2614T>C
c.14309T>C (p.Met4770Thr)
c.14294T>C (p.Met4765Thr)
c.14291T>C (p.Met4764Thr)
c.14276T>C (p.Met4759Thr)
c.14306T>C (p.Met4769Thr)
c.14222T>C (p.Met4741Thr)
 dbSNP
19g.38578149T>GCA405685017RYR1c.1245T>G
c.2642T>G
c.2614T>G
c.14309T>G (p.Met4770Arg)
c.14294T>G (p.Met4765Arg)
c.14291T>G (p.Met4764Arg)
c.14276T>G (p.Met4759Arg)
c.14306T>G (p.Met4769Arg)
c.14222T>G (p.Met4741Arg)
19g.38578149T=CA2335091393RYR1c.1245T=
c.2642T=
c.2614T=
c.14309T= (p.Met4770=)
c.14294T= (p.Met4765=)
c.14291T= (p.Met4764=)
c.14276T= (p.Met4759=)
c.14306T= (p.Met4769=)
c.14222T= (p.Met4741=)
19g.38578150G>ACA405685034RYR1c.1246G>A
c.2643G>A
c.2615G>A
c.14310G>A (p.Met4770Ile)
c.14295G>A (p.Met4765Ile)
c.14292G>A (p.Met4764Ile)
c.14277G>A (p.Met4759Ile)
c.14307G>A (p.Met4769Ile)
c.14223G>A (p.Met4741Ile)
 gnomAD v4
19g.38578150G>CCA405685036RYR1c.1246G>C
c.2643G>C
c.2615G>C
c.14310G>C (p.Met4770Ile)
c.14295G>C (p.Met4765Ile)
c.14292G>C (p.Met4764Ile)
c.14277G>C (p.Met4759Ile)
c.14307G>C (p.Met4769Ile)
c.14223G>C (p.Met4741Ile)
19g.38578150G=CA2335091394RYR1c.1246G=
c.2643G=
c.2615G=
c.14310G= (p.Met4770=)
c.14295G= (p.Met4765=)
c.14292G= (p.Met4764=)
c.14277G= (p.Met4759=)
c.14307G= (p.Met4769=)
c.14223G= (p.Met4741=)
19g.38578150G>TCA405685039RYR1c.1246G>T
c.2643G>T
c.2615G>T
c.14310G>T (p.Met4770Ile)
c.14295G>T (p.Met4765Ile)
c.14292G>T (p.Met4764Ile)
c.14277G>T (p.Met4759Ile)
c.14307G>T (p.Met4769Ile)
c.14223G>T (p.Met4741Ile)
 dbSNP gnomAD v2 gnomAD v4
19g.38578151T>ACA405685041RYR1c.1247T>A
c.2644T>A
c.2616T>A
c.14311T>A (p.Ser4771Thr)
c.14296T>A (p.Ser4766Thr)
c.14293T>A (p.Ser4765Thr)
c.14278T>A (p.Ser4760Thr)
c.14308T>A (p.Ser4770Thr)
c.14224T>A (p.Ser4742Thr)
19g.38578151T>CCA405685045RYR1c.1247T>C
c.2644T>C
c.2616T>C
c.14311T>C (p.Ser4771Pro)
c.14296T>C (p.Ser4766Pro)
c.14293T>C (p.Ser4765Pro)
c.14278T>C (p.Ser4760Pro)
c.14308T>C (p.Ser4770Pro)
c.14224T>C (p.Ser4742Pro)
19g.38578151T>GCA405685046RYR1c.1247T>G
c.2644T>G
c.2616T>G
c.14311T>G (p.Ser4771Ala)
c.14296T>G (p.Ser4766Ala)
c.14293T>G (p.Ser4765Ala)
c.14278T>G (p.Ser4760Ala)
c.14308T>G (p.Ser4770Ala)
c.14224T>G (p.Ser4742Ala)
19g.38578152C>ACA405685048RYR1c.1248C>A
c.2645C>A
c.2617C>A
c.14312C>A (p.Ser4771Tyr)
c.14297C>A (p.Ser4766Tyr)
c.14294C>A (p.Ser4765Tyr)
c.14279C>A (p.Ser4760Tyr)
c.14309C>A (p.Ser4770Tyr)
c.14225C>A (p.Ser4742Tyr)
19g.38578152C>GCA405685049RYR1c.1248C>G
c.2645C>G
c.2617C>G
c.14312C>G (p.Ser4771Cys)
c.14297C>G (p.Ser4766Cys)
c.14294C>G (p.Ser4765Cys)
c.14279C>G (p.Ser4760Cys)
c.14309C>G (p.Ser4770Cys)
c.14225C>G (p.Ser4742Cys)
19g.38578152C>TCA405685050RYR1c.1248C>T
c.2645C>T
c.2617C>T
c.14312C>T (p.Ser4771Phe)
c.14297C>T (p.Ser4766Phe)
c.14294C>T (p.Ser4765Phe)
c.14279C>T (p.Ser4760Phe)
c.14309C>T (p.Ser4770Phe)
c.14225C>T (p.Ser4742Phe)
19g.38578153C>ACA507245921RYR1c.1249C>A
c.2646C>A
c.2618C>A
c.14313C>A (p.Ser4771=)
c.14298C>A (p.Ser4766=)
c.14295C>A (p.Ser4765=)
c.14280C>A (p.Ser4760=)
c.14310C>A (p.Ser4770=)
c.14226C>A (p.Ser4742=)
19g.38578153C=CA2335091395RYR1c.1249C=
c.2646C=
c.2618C=
c.14313C= (p.Ser4771=)
c.14298C= (p.Ser4766=)
c.14295C= (p.Ser4765=)
c.14280C= (p.Ser4760=)
c.14310C= (p.Ser4770=)
c.14226C= (p.Ser4742=)
19g.38578153C>GCA507245922RYR1c.1249C>G
c.2646C>G
c.2618C>G
c.14313C>G (p.Ser4771=)
c.14298C>G (p.Ser4766=)
c.14295C>G (p.Ser4765=)
c.14280C>G (p.Ser4760=)
c.14310C>G (p.Ser4770=)
c.14226C>G (p.Ser4742=)
 dbSNP
19g.38578153C>TCA308120309RYR1c.1249C>T
c.2646C>T
c.2618C>T
c.14313C>T (p.Ser4771=)
c.14298C>T (p.Ser4766=)
c.14295C>T (p.Ser4765=)
c.14280C>T (p.Ser4760=)
c.14310C>T (p.Ser4770=)
c.14226C>T (p.Ser4742=)
 dbSNP gnomAD v2 gnomAD v4
19g.38578154A=CA2335091396RYR1c.1250A=
c.2647A=
c.2619A=
c.14314A= (p.Ile4772=)
c.14299A= (p.Ile4767=)
c.14296A= (p.Ile4766=)
c.14281A= (p.Ile4761=)
c.14311A= (p.Ile4771=)
c.14227A= (p.Ile4743=)
19g.38578154A>CCA405685052RYR1c.1250A>C
c.2647A>C
c.2619A>C
c.14314A>C (p.Ile4772Leu)
c.14299A>C (p.Ile4767Leu)
c.14296A>C (p.Ile4766Leu)
c.14281A>C (p.Ile4761Leu)
c.14311A>C (p.Ile4771Leu)
c.14227A>C (p.Ile4743Leu)
19g.38578154A>GCA061105RYR1c.1250A>G
c.2647A>G
c.2619A>G
c.14314A>G (p.Ile4772Val)
c.14299A>G (p.Ile4767Val)
c.14296A>G (p.Ile4766Val)
c.14281A>G (p.Ile4761Val)
c.14311A>G (p.Ile4771Val)
c.14227A>G (p.Ile4743Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38578154A>TCA405685057RYR1c.1250A>T
c.2647A>T
c.2619A>T
c.14314A>T (p.Ile4772Phe)
c.14299A>T (p.Ile4767Phe)
c.14296A>T (p.Ile4766Phe)
c.14281A>T (p.Ile4761Phe)
c.14311A>T (p.Ile4771Phe)
c.14227A>T (p.Ile4743Phe)
19g.38578155T>ACA405685066RYR1c.1251T>A
c.2648T>A
c.2620T>A
c.14315T>A (p.Ile4772Asn)
c.14300T>A (p.Ile4767Asn)
c.14297T>A (p.Ile4766Asn)
c.14282T>A (p.Ile4761Asn)
c.14312T>A (p.Ile4771Asn)
c.14228T>A (p.Ile4743Asn)
19g.38578155T>CCA405685063RYR1c.1251T>C
c.2648T>C
c.2620T>C
c.14315T>C (p.Ile4772Thr)
c.14300T>C (p.Ile4767Thr)
c.14297T>C (p.Ile4766Thr)
c.14282T>C (p.Ile4761Thr)
c.14312T>C (p.Ile4771Thr)
c.14228T>C (p.Ile4743Thr)
19g.38578155T>GCA405685061RYR1c.1251T>G
c.2648T>G
c.2620T>G
c.14315T>G (p.Ile4772Ser)
c.14300T>G (p.Ile4767Ser)
c.14297T>G (p.Ile4766Ser)
c.14282T>G (p.Ile4761Ser)
c.14312T>G (p.Ile4771Ser)
c.14228T>G (p.Ile4743Ser)
19g.38578156C>ACA507245923RYR1c.1252C>A
c.2649C>A
c.2621C>A
c.14316C>A (p.Ile4772=)
c.14301C>A (p.Ile4767=)
c.14298C>A (p.Ile4766=)
c.14283C>A (p.Ile4761=)
c.14313C>A (p.Ile4771=)
c.14229C>A (p.Ile4743=)
19g.38578156C=CA2335091397RYR1c.1252C=
c.2649C=
c.2621C=
c.14316C= (p.Ile4772=)
c.14301C= (p.Ile4767=)
c.14298C= (p.Ile4766=)
c.14283C= (p.Ile4761=)
c.14313C= (p.Ile4771=)
c.14229C= (p.Ile4743=)
19g.38578156C>GCA405685071RYR1c.1252C>G
c.2649C>G
c.2621C>G
c.14316C>G (p.Ile4772Met)
c.14301C>G (p.Ile4767Met)
c.14298C>G (p.Ile4766Met)
c.14283C>G (p.Ile4761Met)
c.14313C>G (p.Ile4771Met)
c.14229C>G (p.Ile4743Met)
19g.38578156C>TCA061106RYR1c.1252C>T
c.2649C>T
c.2621C>T
c.14316C>T (p.Ile4772=)
c.14301C>T (p.Ile4767=)
c.14298C>T (p.Ile4766=)
c.14283C>T (p.Ile4761=)
c.14313C>T (p.Ile4771=)
c.14229C>T (p.Ile4743=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38578157G>ACA061110RYR1c.1253G>A
c.2650G>A
c.2622G>A
c.14317G>A (p.Asp4773Asn)
c.14302G>A (p.Asp4768Asn)
c.14299G>A (p.Asp4767Asn)
c.14284G>A (p.Asp4762Asn)
c.14314G>A (p.Asp4772Asn)
c.14230G>A (p.Asp4744Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38578157G>CCA405685079RYR1c.1253G>C
c.2650G>C
c.2622G>C
c.14317G>C (p.Asp4773His)
c.14302G>C (p.Asp4768His)
c.14299G>C (p.Asp4767His)
c.14284G>C (p.Asp4762His)
c.14314G>C (p.Asp4772His)
c.14230G>C (p.Asp4744His)
 dbSNP gnomAD v4
19g.38578157G=CA2335091398RYR1c.1253G=
c.2650G=
c.2622G=
c.14317G= (p.Asp4773=)
c.14302G= (p.Asp4768=)
c.14299G= (p.Asp4767=)
c.14284G= (p.Asp4762=)
c.14314G= (p.Asp4772=)
c.14230G= (p.Asp4744=)
19g.38578157G>TCA061111RYR1c.1253G>T
c.2650G>T
c.2622G>T
c.14317G>T (p.Asp4773Tyr)
c.14302G>T (p.Asp4768Tyr)
c.14299G>T (p.Asp4767Tyr)
c.14284G>T (p.Asp4762Tyr)
c.14314G>T (p.Asp4772Tyr)
c.14230G>T (p.Asp4744Tyr)
 ClinVar dbSNP ExAC gnomAD v4 COSMIC
19g.38578158A=CA2335091399RYR1c.1254A=
c.2651A=
c.2623A=
c.14318A= (p.Asp4773=)
c.14303A= (p.Asp4768=)
c.14300A= (p.Asp4767=)
c.14285A= (p.Asp4762=)
c.14315A= (p.Asp4772=)
c.14231A= (p.Asp4744=)
19g.38578158A>CCA405685087RYR1c.1254A>C
c.2651A>C
c.2623A>C
c.14318A>C (p.Asp4773Ala)
c.14303A>C (p.Asp4768Ala)
c.14300A>C (p.Asp4767Ala)
c.14285A>C (p.Asp4762Ala)
c.14315A>C (p.Asp4772Ala)
c.14231A>C (p.Asp4744Ala)
19g.38578158A>GCA061115RYR1c.1254A>G
c.2651A>G
c.2623A>G
c.14318A>G (p.Asp4773Gly)
c.14303A>G (p.Asp4768Gly)
c.14300A>G (p.Asp4767Gly)
c.14285A>G (p.Asp4762Gly)
c.14315A>G (p.Asp4772Gly)
c.14231A>G (p.Asp4744Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38578158A>TCA405685093RYR1c.1254A>T
c.2651A>T
c.2623A>T
c.14318A>T (p.Asp4773Val)
c.14303A>T (p.Asp4768Val)
c.14300A>T (p.Asp4767Val)
c.14285A>T (p.Asp4762Val)
c.14315A>T (p.Asp4772Val)
c.14231A>T (p.Asp4744Val)
19g.38578159T>ACA405685095RYR1c.1255T>A
c.2652T>A
c.2624T>A
c.14319T>A (p.Asp4773Glu)
c.14304T>A (p.Asp4768Glu)
c.14301T>A (p.Asp4767Glu)
c.14286T>A (p.Asp4762Glu)
c.14316T>A (p.Asp4772Glu)
c.14232T>A (p.Asp4744Glu)
19g.38578159T>CCA507245924RYR1c.1255T>C
c.2652T>C
c.2624T>C
c.14319T>C (p.Asp4773=)
c.14304T>C (p.Asp4768=)
c.14301T>C (p.Asp4767=)
c.14286T>C (p.Asp4762=)
c.14316T>C (p.Asp4772=)
c.14232T>C (p.Asp4744=)
 gnomAD v4
19g.38578159T>GCA405685098RYR1c.1255T>G
c.2652T>G
c.2624T>G
c.14319T>G (p.Asp4773Glu)
c.14304T>G (p.Asp4768Glu)
c.14301T>G (p.Asp4767Glu)
c.14286T>G (p.Asp4762Glu)
c.14316T>G (p.Asp4772Glu)
c.14232T>G (p.Asp4744Glu)
 ClinVar
19g.38578160G>ACA081184RYR1c.1256G>A
c.2653G>A
c.2625G>A
c.14320G>A (p.Val4774Ile)
c.14305G>A (p.Val4769Ile)
c.14302G>A (p.Val4768Ile)
c.14287G>A (p.Val4763Ile)
c.14317G>A (p.Val4773Ile)
c.14233G>A (p.Val4745Ile)
 dbSNP gnomAD v2 gnomAD v4
19g.38578160G>CCA405685108RYR1c.1256G>C
c.2653G>C
c.2625G>C
c.14320G>C (p.Val4774Leu)
c.14305G>C (p.Val4769Leu)
c.14302G>C (p.Val4768Leu)
c.14287G>C (p.Val4763Leu)
c.14317G>C (p.Val4773Leu)
c.14233G>C (p.Val4745Leu)
19g.38578160G=CA2335091400RYR1c.1256G=
c.2653G=
c.2625G=
c.14320G= (p.Val4774=)
c.14305G= (p.Val4769=)
c.14302G= (p.Val4768=)
c.14287G= (p.Val4763=)
c.14317G= (p.Val4773=)
c.14233G= (p.Val4745=)
19g.38578160G>TCA081185RYR1c.1256G>T
c.2653G>T
c.2625G>T
c.14320G>T (p.Val4774Phe)
c.14305G>T (p.Val4769Phe)
c.14302G>T (p.Val4768Phe)
c.14287G>T (p.Val4763Phe)
c.14317G>T (p.Val4773Phe)
c.14233G>T (p.Val4745Phe)
19g.38578161T>ACA405685116RYR1c.1257T>A
c.2654T>A
c.2626T>A
c.14321T>A (p.Val4774Asp)
c.14306T>A (p.Val4769Asp)
c.14303T>A (p.Val4768Asp)
c.14288T>A (p.Val4763Asp)
c.14318T>A (p.Val4773Asp)
c.14234T>A (p.Val4745Asp)
19g.38578161T>CCA405685120RYR1c.1257T>C
c.2654T>C
c.2626T>C
c.14321T>C (p.Val4774Ala)
c.14306T>C (p.Val4769Ala)
c.14303T>C (p.Val4768Ala)
c.14288T>C (p.Val4763Ala)
c.14318T>C (p.Val4773Ala)
c.14234T>C (p.Val4745Ala)
19g.38578161T>GCA405685113RYR1c.1257T>G
c.2654T>G
c.2626T>G
c.14321T>G (p.Val4774Gly)
c.14306T>G (p.Val4769Gly)
c.14303T>G (p.Val4768Gly)
c.14288T>G (p.Val4763Gly)
c.14318T>G (p.Val4773Gly)
c.14234T>G (p.Val4745Gly)
19g.38578162C>ACA507245925RYR1c.1258C>A
c.2655C>A
c.2627C>A
c.14322C>A (p.Val4774=)
c.14307C>A (p.Val4769=)
c.14304C>A (p.Val4768=)
c.14289C>A (p.Val4763=)
c.14319C>A (p.Val4773=)
c.14235C>A (p.Val4745=)
19g.38578162C>GCA507245926RYR1c.1258C>G
c.2655C>G
c.2627C>G
c.14322C>G (p.Val4774=)
c.14307C>G (p.Val4769=)
c.14304C>G (p.Val4768=)
c.14289C>G (p.Val4763=)
c.14319C>G (p.Val4773=)
c.14235C>G (p.Val4745=)
 gnomAD v4
19g.38578162C>TCA507245927RYR1c.1258C>T
c.2655C>T
c.2627C>T
c.14322C>T (p.Val4774=)
c.14307C>T (p.Val4769=)
c.14304C>T (p.Val4768=)
c.14289C>T (p.Val4763=)
c.14319C>T (p.Val4773=)
c.14235C>T (p.Val4745=)
19g.38578163A>CCA405685123RYR1c.1259A>C
c.2656A>C
c.2628A>C
c.14323A>C (p.Lys4775Gln)
c.14308A>C (p.Lys4770Gln)
c.14305A>C (p.Lys4769Gln)
c.14290A>C (p.Lys4764Gln)
c.14320A>C (p.Lys4774Gln)
c.14236A>C (p.Lys4746Gln)
19g.38578163A>GCA405685128RYR1c.1259A>G
c.2656A>G
c.2628A>G
c.14323A>G (p.Lys4775Glu)
c.14308A>G (p.Lys4770Glu)
c.14305A>G (p.Lys4769Glu)
c.14290A>G (p.Lys4764Glu)
c.14320A>G (p.Lys4774Glu)
c.14236A>G (p.Lys4746Glu)
19g.38578163A>TCA405685126RYR1c.1259A>T
c.2656A>T
c.2628A>T
c.14323A>T (p.Lys4775Ter)
c.14308A>T (p.Lys4770Ter)
c.14305A>T (p.Lys4769Ter)
c.14290A>T (p.Lys4764Ter)
c.14320A>T (p.Lys4774Ter)
c.14236A>T (p.Lys4746Ter)
19g.38578164A=CA2335091401RYR1c.1260A=
c.2657A=
c.2629A=
c.14324A= (p.Lys4775=)
c.14309A= (p.Lys4770=)
c.14306A= (p.Lys4769=)
c.14291A= (p.Lys4764=)
c.14321A= (p.Lys4774=)
c.14237A= (p.Lys4746=)
19g.38578164A>CCA405685131RYR1c.1260A>C
c.2657A>C
c.2629A>C
c.14324A>C (p.Lys4775Thr)
c.14309A>C (p.Lys4770Thr)
c.14306A>C (p.Lys4769Thr)
c.14291A>C (p.Lys4764Thr)
c.14321A>C (p.Lys4774Thr)
c.14237A>C (p.Lys4746Thr)
19g.38578164A>GCA405685134RYR1c.1260A>G
c.2657A>G
c.2629A>G
c.14324A>G (p.Lys4775Arg)
c.14309A>G (p.Lys4770Arg)
c.14306A>G (p.Lys4769Arg)
c.14291A>G (p.Lys4764Arg)
c.14321A>G (p.Lys4774Arg)
c.14237A>G (p.Lys4746Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38578164A>TCA405685140RYR1c.1260A>T
c.2657A>T
c.2629A>T
c.14324A>T (p.Lys4775Met)
c.14309A>T (p.Lys4770Met)
c.14306A>T (p.Lys4769Met)
c.14291A>T (p.Lys4764Met)
c.14321A>T (p.Lys4774Met)
c.14237A>T (p.Lys4746Met)
19g.38578165G>ACA308120332RYR1c.1261G>A
c.2658G>A
c.2630G>A
c.14325G>A (p.Lys4775=)
c.14310G>A (p.Lys4770=)
c.14307G>A (p.Lys4769=)
c.14292G>A (p.Lys4764=)
c.14322G>A (p.Lys4774=)
c.14238G>A (p.Lys4746=)
 dbSNP
19g.38578165G>CCA405685154RYR1c.1261G>C
c.2658G>C
c.2630G>C
c.14325G>C (p.Lys4775Asn)
c.14310G>C (p.Lys4770Asn)
c.14307G>C (p.Lys4769Asn)
c.14292G>C (p.Lys4764Asn)
c.14322G>C (p.Lys4774Asn)
c.14238G>C (p.Lys4746Asn)
 COSMIC
19g.38578165G=CA2335091402RYR1c.1261G=
c.2658G=
c.2630G=
c.14325G= (p.Lys4775=)
c.14310G= (p.Lys4770=)
c.14307G= (p.Lys4769=)
c.14292G= (p.Lys4764=)
c.14322G= (p.Lys4774=)
c.14238G= (p.Lys4746=)
19g.38578165G>TCA405685156RYR1c.1261G>T
c.2658G>T
c.2630G>T
c.14325G>T (p.Lys4775Asn)
c.14310G>T (p.Lys4770Asn)
c.14307G>T (p.Lys4769Asn)
c.14292G>T (p.Lys4764Asn)
c.14322G>T (p.Lys4774Asn)
c.14238G>T (p.Lys4746Asn)
19g.38578166T>ACA405685159RYR1c.1262T>A
c.2659T>A
c.2631T>A
c.14326T>A (p.Tyr4776Asn)
c.14311T>A (p.Tyr4771Asn)
c.14308T>A (p.Tyr4770Asn)
c.14293T>A (p.Tyr4765Asn)
c.14323T>A (p.Tyr4775Asn)
c.14239T>A (p.Tyr4747Asn)
19g.38578166T>CCA405685165RYR1c.1262T>C
c.2659T>C
c.2631T>C
c.14326T>C (p.Tyr4776His)
c.14311T>C (p.Tyr4771His)
c.14308T>C (p.Tyr4770His)
c.14293T>C (p.Tyr4765His)
c.14323T>C (p.Tyr4775His)
c.14239T>C (p.Tyr4747His)
 ClinVar
19g.38578166T>GCA405685169RYR1c.1262T>G
c.2659T>G
c.2631T>G
c.14326T>G (p.Tyr4776Asp)
c.14311T>G (p.Tyr4771Asp)
c.14308T>G (p.Tyr4770Asp)
c.14293T>G (p.Tyr4765Asp)
c.14323T>G (p.Tyr4775Asp)
c.14239T>G (p.Tyr4747Asp)
19g.38578167A>CCA405685175RYR1c.1263A>C
c.2660A>C
c.2632A>C
c.14327A>C (p.Tyr4776Ser)
c.14312A>C (p.Tyr4771Ser)
c.14309A>C (p.Tyr4770Ser)
c.14294A>C (p.Tyr4765Ser)
c.14324A>C (p.Tyr4775Ser)
c.14240A>C (p.Tyr4747Ser)
19g.38578167A>GCA405685177RYR1c.1263A>G
c.2660A>G
c.2632A>G
c.14327A>G (p.Tyr4776Cys)
c.14312A>G (p.Tyr4771Cys)
c.14309A>G (p.Tyr4770Cys)
c.14294A>G (p.Tyr4765Cys)
c.14324A>G (p.Tyr4775Cys)
c.14240A>G (p.Tyr4747Cys)
 gnomAD v4
19g.38578167A>TCA405685178RYR1c.1263A>T
c.2660A>T
c.2632A>T
c.14327A>T (p.Tyr4776Phe)
c.14312A>T (p.Tyr4771Phe)
c.14309A>T (p.Tyr4770Phe)
c.14294A>T (p.Tyr4765Phe)
c.14324A>T (p.Tyr4775Phe)
c.14240A>T (p.Tyr4747Phe)
19g.38578168C>ACA405685184RYR1c.1264C>A
c.2661C>A
c.2633C>A
c.14328C>A (p.Tyr4776Ter)
c.14313C>A (p.Tyr4771Ter)
c.14310C>A (p.Tyr4770Ter)
c.14295C>A (p.Tyr4765Ter)
c.14325C>A (p.Tyr4775Ter)
c.14241C>A (p.Tyr4747Ter)
19g.38578168C=CA2335091403RYR1c.1264C=
c.2661C=
c.2633C=
c.14328C= (p.Tyr4776=)
c.14313C= (p.Tyr4771=)
c.14310C= (p.Tyr4770=)
c.14295C= (p.Tyr4765=)
c.14325C= (p.Tyr4775=)
c.14241C= (p.Tyr4747=)
19g.38578168C>GCA405685181RYR1c.1264C>G
c.2661C>G
c.2633C>G
c.14328C>G (p.Tyr4776Ter)
c.14313C>G (p.Tyr4771Ter)
c.14310C>G (p.Tyr4770Ter)
c.14295C>G (p.Tyr4765Ter)
c.14325C>G (p.Tyr4775Ter)
c.14241C>G (p.Tyr4747Ter)
19g.38578168C>TCA507245928RYR1c.1264C>T
c.2661C>T
c.2633C>T
c.14328C>T (p.Tyr4776=)
c.14313C>T (p.Tyr4771=)
c.14310C>T (p.Tyr4770=)
c.14295C>T (p.Tyr4765=)
c.14325C>T (p.Tyr4775=)
c.14241C>T (p.Tyr4747=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38578169C>ACA308120335RYR1c.1265C>A
c.2662C>A
c.2634C>A
c.14329C>A (p.Gln4777Lys)
c.14314C>A (p.Gln4772Lys)
c.14311C>A (p.Gln4771Lys)
c.14296C>A (p.Gln4766Lys)
c.14326C>A (p.Gln4776Lys)
c.14242C>A (p.Gln4748Lys)
 dbSNP
19g.38578169C=CA2335091404RYR1c.1265C=
c.2662C=
c.2634C=
c.14329C= (p.Gln4777=)
c.14314C= (p.Gln4772=)
c.14311C= (p.Gln4771=)
c.14296C= (p.Gln4766=)
c.14326C= (p.Gln4776=)
c.14242C= (p.Gln4748=)
19g.38578169C>GCA405685185RYR1c.1265C>G
c.2662C>G
c.2634C>G
c.14329C>G (p.Gln4777Glu)
c.14314C>G (p.Gln4772Glu)
c.14311C>G (p.Gln4771Glu)
c.14296C>G (p.Gln4766Glu)
c.14326C>G (p.Gln4776Glu)
c.14242C>G (p.Gln4748Glu)
19g.38578169C>TCA405685186RYR1c.1265C>T
c.2662C>T
c.2634C>T
c.14329C>T (p.Gln4777Ter)
c.14314C>T (p.Gln4772Ter)
c.14311C>T (p.Gln4771Ter)
c.14296C>T (p.Gln4766Ter)
c.14326C>T (p.Gln4776Ter)
c.14242C>T (p.Gln4748Ter)
 gnomAD v4
19g.38578170A>CCA405685187RYR1c.1266A>C
c.2663A>C
c.2635A>C
c.14330A>C (p.Gln4777Pro)
c.14315A>C (p.Gln4772Pro)
c.14312A>C (p.Gln4771Pro)
c.14297A>C (p.Gln4766Pro)
c.14327A>C (p.Gln4776Pro)
c.14243A>C (p.Gln4748Pro)
19g.38578170A>GCA405685188RYR1c.1266A>G
c.2663A>G
c.2635A>G
c.14330A>G (p.Gln4777Arg)
c.14315A>G (p.Gln4772Arg)
c.14312A>G (p.Gln4771Arg)
c.14297A>G (p.Gln4766Arg)
c.14327A>G (p.Gln4776Arg)
c.14243A>G (p.Gln4748Arg)
19g.38578170A>TCA405685191RYR1c.1266A>T
c.2663A>T
c.2635A>T
c.14330A>T (p.Gln4777Leu)
c.14315A>T (p.Gln4772Leu)
c.14312A>T (p.Gln4771Leu)
c.14297A>T (p.Gln4766Leu)
c.14327A>T (p.Gln4776Leu)
c.14243A>T (p.Gln4748Leu)
19g.38578171G>ACA507245929RYR1c.1267G>A
c.2664G>A
c.2636G>A
c.14331G>A (p.Gln4777=)
c.14316G>A (p.Gln4772=)
c.14313G>A (p.Gln4771=)
c.14298G>A (p.Gln4766=)
c.14328G>A (p.Gln4776=)
c.14244G>A (p.Gln4748=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38578171G>CCA061117RYR1c.1267G>C
c.2664G>C
c.2636G>C
c.14331G>C (p.Gln4777His)
c.14316G>C (p.Gln4772His)
c.14313G>C (p.Gln4771His)
c.14298G>C (p.Gln4766His)
c.14328G>C (p.Gln4776His)
c.14244G>C (p.Gln4748His)
 dbSNP ExAC gnomAD v2
19g.38578171G=CA2335091405RYR1c.1267G=
c.2664G=
c.2636G=
c.14331G= (p.Gln4777=)
c.14316G= (p.Gln4772=)
c.14313G= (p.Gln4771=)
c.14298G= (p.Gln4766=)
c.14328G= (p.Gln4776=)
c.14244G= (p.Gln4748=)
19g.38578171G>TCA405685194RYR1c.1267G>T
c.2664G>T
c.2636G>T
c.14331G>T (p.Gln4777His)
c.14316G>T (p.Gln4772His)
c.14313G>T (p.Gln4771His)
c.14298G>T (p.Gln4766His)
c.14328G>T (p.Gln4776His)
c.14244G>T (p.Gln4748His)
19g.38578172A=CA2335091406RYR1c.1268A=
c.2665A=
c.2637A=
c.14332A= (p.Ile4778=)
c.14317A= (p.Ile4773=)
c.14314A= (p.Ile4772=)
c.14299A= (p.Ile4767=)
c.14329A= (p.Ile4777=)
c.14245A= (p.Ile4749=)
19g.38578172A>CCA405685196RYR1c.1268A>C
c.2665A>C
c.2637A>C
c.14332A>C (p.Ile4778Leu)
c.14317A>C (p.Ile4773Leu)
c.14314A>C (p.Ile4772Leu)
c.14299A>C (p.Ile4767Leu)
c.14329A>C (p.Ile4777Leu)
c.14245A>C (p.Ile4749Leu)
 dbSNP
19g.38578172A>GCA405685198RYR1c.1268A>G
c.2665A>G
c.2637A>G
c.14332A>G (p.Ile4778Val)
c.14317A>G (p.Ile4773Val)
c.14314A>G (p.Ile4772Val)
c.14299A>G (p.Ile4767Val)
c.14329A>G (p.Ile4777Val)
c.14245A>G (p.Ile4749Val)
19g.38578172A>TCA405685200RYR1c.1268A>T
c.2665A>T
c.2637A>T
c.14332A>T (p.Ile4778Phe)
c.14317A>T (p.Ile4773Phe)
c.14314A>T (p.Ile4772Phe)
c.14299A>T (p.Ile4767Phe)
c.14329A>T (p.Ile4777Phe)
c.14245A>T (p.Ile4749Phe)
19g.38578173T>ACA405685205RYR1c.1269T>A
c.2666T>A
c.2638T>A
c.14333T>A (p.Ile4778Asn)
c.14318T>A (p.Ile4773Asn)
c.14315T>A (p.Ile4772Asn)
c.14300T>A (p.Ile4767Asn)
c.14330T>A (p.Ile4777Asn)
c.14246T>A (p.Ile4749Asn)
19g.38578173T>CCA405685203RYR1c.1269T>C
c.2666T>C
c.2638T>C
c.14333T>C (p.Ile4778Thr)
c.14318T>C (p.Ile4773Thr)
c.14315T>C (p.Ile4772Thr)
c.14300T>C (p.Ile4767Thr)
c.14330T>C (p.Ile4777Thr)
c.14246T>C (p.Ile4749Thr)
19g.38578173T>GCA405685202RYR1c.1269T>G
c.2666T>G
c.2638T>G
c.14333T>G (p.Ile4778Ser)
c.14318T>G (p.Ile4773Ser)
c.14315T>G (p.Ile4772Ser)
c.14300T>G (p.Ile4767Ser)
c.14330T>G (p.Ile4777Ser)
c.14246T>G (p.Ile4749Ser)
19g.38578174C>ACA507245931RYR1c.1270C>A
c.2667C>A
c.2639C>A
c.14334C>A (p.Ile4778=)
c.14319C>A (p.Ile4773=)
c.14316C>A (p.Ile4772=)
c.14301C>A (p.Ile4767=)
c.14331C>A (p.Ile4777=)
c.14247C>A (p.Ile4749=)
 gnomAD v4
19g.38578174C>GCA405685208RYR1c.1270C>G
c.2667C>G
c.2639C>G
c.14334C>G (p.Ile4778Met)
c.14319C>G (p.Ile4773Met)
c.14316C>G (p.Ile4772Met)
c.14301C>G (p.Ile4767Met)
c.14331C>G (p.Ile4777Met)
c.14247C>G (p.Ile4749Met)
19g.38578174C>TCA507245930RYR1c.1270C>T
c.2667C>T
c.2639C>T
c.14334C>T (p.Ile4778=)
c.14319C>T (p.Ile4773=)
c.14316C>T (p.Ile4772=)
c.14301C>T (p.Ile4767=)
c.14331C>T (p.Ile4777=)
c.14247C>T (p.Ile4749=)
19g.38578175T>ACA405685218RYR1c.1271T>A
c.2668T>A
c.2640T>A
c.14335T>A (p.Trp4779Arg)
c.14320T>A (p.Trp4774Arg)
c.14317T>A (p.Trp4773Arg)
c.14302T>A (p.Trp4768Arg)
c.14332T>A (p.Trp4778Arg)
c.14248T>A (p.Trp4750Arg)
19g.38578175T>CCA405685221RYR1c.1271T>C
c.2668T>C
c.2640T>C
c.14335T>C (p.Trp4779Arg)
c.14320T>C (p.Trp4774Arg)
c.14317T>C (p.Trp4773Arg)
c.14302T>C (p.Trp4768Arg)
c.14332T>C (p.Trp4778Arg)
c.14248T>C (p.Trp4750Arg)
 ClinVar dbSNP
19g.38578175T>GCA405685227RYR1c.1271T>G
c.2668T>G
c.2640T>G
c.14335T>G (p.Trp4779Gly)
c.14320T>G (p.Trp4774Gly)
c.14317T>G (p.Trp4773Gly)
c.14302T>G (p.Trp4768Gly)
c.14332T>G (p.Trp4778Gly)
c.14248T>G (p.Trp4750Gly)
19g.38578175T=CA2335091407RYR1c.1271T=
c.2668T=
c.2640T=
c.14335T= (p.Trp4779=)
c.14320T= (p.Trp4774=)
c.14317T= (p.Trp4773=)
c.14302T= (p.Trp4768=)
c.14332T= (p.Trp4778=)
c.14248T= (p.Trp4750=)
19g.38578176G>ACA405685228RYR1c.1272G>A
c.2669G>A
c.2641G>A
c.14336G>A (p.Trp4779Ter)
c.14321G>A (p.Trp4774Ter)
c.14318G>A (p.Trp4773Ter)
c.14303G>A (p.Trp4768Ter)
c.14333G>A (p.Trp4778Ter)
c.14249G>A (p.Trp4750Ter)
19g.38578176G>CCA081163RYR1c.1272G>C
c.2669G>C
c.2641G>C
c.14336G>C (p.Trp4779Ser)
c.14321G>C (p.Trp4774Ser)
c.14318G>C (p.Trp4773Ser)
c.14303G>C (p.Trp4768Ser)
c.14333G>C (p.Trp4778Ser)
c.14249G>C (p.Trp4750Ser)
19g.38578176G>TCA405685229RYR1c.1272G>T
c.2669G>T
c.2641G>T
c.14336G>T (p.Trp4779Leu)
c.14321G>T (p.Trp4774Leu)
c.14318G>T (p.Trp4773Leu)
c.14303G>T (p.Trp4768Leu)
c.14333G>T (p.Trp4778Leu)
c.14249G>T (p.Trp4750Leu)
19g.38578177G>ACA081164RYR1c.1273G>A
c.2670G>A
c.2642G>A
c.14337G>A (p.Trp4779Ter)
c.14322G>A (p.Trp4774Ter)
c.14319G>A (p.Trp4773Ter)
c.14304G>A (p.Trp4768Ter)
c.14334G>A (p.Trp4778Ter)
c.14250G>A (p.Trp4750Ter)
19g.38578177G>CCA405685241RYR1c.1273G>C
c.2670G>C
c.2642G>C
c.14337G>C (p.Trp4779Cys)
c.14322G>C (p.Trp4774Cys)
c.14319G>C (p.Trp4773Cys)
c.14304G>C (p.Trp4768Cys)
c.14334G>C (p.Trp4778Cys)
c.14250G>C (p.Trp4750Cys)
19g.38578177G>TCA405685245RYR1c.1273G>T
c.2670G>T
c.2642G>T
c.14337G>T (p.Trp4779Cys)
c.14322G>T (p.Trp4774Cys)
c.14319G>T (p.Trp4773Cys)
c.14304G>T (p.Trp4768Cys)
c.14334G>T (p.Trp4778Cys)
c.14250G>T (p.Trp4750Cys)
 gnomAD v4
19g.38578178A>CCA405685248RYR1c.1274A>C
c.2671A>C
c.2643A>C
c.14338A>C (p.Lys4780Gln)
c.14323A>C (p.Lys4775Gln)
c.14320A>C (p.Lys4774Gln)
c.14305A>C (p.Lys4769Gln)
c.14335A>C (p.Lys4779Gln)
c.14251A>C (p.Lys4751Gln)
 gnomAD v4
19g.38578178A>GCA405685251RYR1c.1274A>G
c.2671A>G
c.2643A>G
c.14338A>G (p.Lys4780Glu)
c.14323A>G (p.Lys4775Glu)
c.14320A>G (p.Lys4774Glu)
c.14305A>G (p.Lys4769Glu)
c.14335A>G (p.Lys4779Glu)
c.14251A>G (p.Lys4751Glu)
19g.38578178A>TCA405685257RYR1c.1274A>T
c.2671A>T
c.2643A>T
c.14338A>T (p.Lys4780Ter)
c.14323A>T (p.Lys4775Ter)
c.14320A>T (p.Lys4774Ter)
c.14305A>T (p.Lys4769Ter)
c.14335A>T (p.Lys4779Ter)
c.14251A>T (p.Lys4751Ter)
19g.38578179A>CCA405685262RYR1c.1275A>C
c.2672A>C
c.2644A>C
c.14339A>C (p.Lys4780Thr)
c.14324A>C (p.Lys4775Thr)
c.14321A>C (p.Lys4774Thr)
c.14306A>C (p.Lys4769Thr)
c.14336A>C (p.Lys4779Thr)
c.14252A>C (p.Lys4751Thr)
19g.38578179A>GCA405685268RYR1c.1275A>G
c.2672A>G
c.2644A>G
c.14339A>G (p.Lys4780Arg)
c.14324A>G (p.Lys4775Arg)
c.14321A>G (p.Lys4774Arg)
c.14306A>G (p.Lys4769Arg)
c.14336A>G (p.Lys4779Arg)
c.14252A>G (p.Lys4751Arg)
19g.38578179A>TCA405685265RYR1c.1275A>T
c.2672A>T
c.2644A>T
c.14339A>T (p.Lys4780Met)
c.14324A>T (p.Lys4775Met)
c.14321A>T (p.Lys4774Met)
c.14306A>T (p.Lys4769Met)
c.14336A>T (p.Lys4779Met)
c.14252A>T (p.Lys4751Met)
19g.38578179_38578180delCA2580097246RYR1c.1275_1276del
c.2672_2673del
c.2644_2645del
c.14339_14340del (p.Lys4780IlefsTer?)
c.14324_14325del (p.Lys4775IlefsTer?)
c.14321_14322del (p.Lys4774IlefsTer?)
c.14306_14307del (p.Lys4769IlefsTer?)
c.14336_14337del (p.Lys4779IlefsTer?)
c.14252_14253del (p.Lys4751IlefsTer?)
 ClinVar
19g.38578180G>ACA507245932RYR1c.1276G>A
c.2673G>A
c.2645G>A
c.14340G>A (p.Lys4780=)
c.14325G>A (p.Lys4775=)
c.14322G>A (p.Lys4774=)
c.14307G>A (p.Lys4769=)
c.14337G>A (p.Lys4779=)
c.14253G>A (p.Lys4751=)
19g.38578180G>CCA405685273RYR1c.1276G>C
c.2673G>C
c.2645G>C
c.14340G>C (p.Lys4780Asn)
c.14325G>C (p.Lys4775Asn)
c.14322G>C (p.Lys4774Asn)
c.14307G>C (p.Lys4769Asn)
c.14337G>C (p.Lys4779Asn)
c.14253G>C (p.Lys4751Asn)
 COSMIC
19g.38578180G>TCA405685276RYR1c.1276G>T
c.2673G>T
c.2645G>T
c.14340G>T (p.Lys4780Asn)
c.14325G>T (p.Lys4775Asn)
c.14322G>T (p.Lys4774Asn)
c.14307G>T (p.Lys4769Asn)
c.14337G>T (p.Lys4779Asn)
c.14253G>T (p.Lys4751Asn)
 gnomAD v4
19g.38578181T>ACA405685280RYR1c.1277T>A
c.2674T>A
c.2646T>A
c.14341T>A (p.Phe4781Ile)
c.14326T>A (p.Phe4776Ile)
c.14323T>A (p.Phe4775Ile)
c.14308T>A (p.Phe4770Ile)
c.14338T>A (p.Phe4780Ile)
c.14254T>A (p.Phe4752Ile)
19g.38578181T>CCA405685282RYR1c.1277T>C
c.2674T>C
c.2646T>C
c.14341T>C (p.Phe4781Leu)
c.14326T>C (p.Phe4776Leu)
c.14323T>C (p.Phe4775Leu)
c.14308T>C (p.Phe4770Leu)
c.14338T>C (p.Phe4780Leu)
c.14254T>C (p.Phe4752Leu)
19g.38578181T>GCA405685285RYR1c.1277T>G
c.2674T>G
c.2646T>G
c.14341T>G (p.Phe4781Val)
c.14326T>G (p.Phe4776Val)
c.14323T>G (p.Phe4775Val)
c.14308T>G (p.Phe4770Val)
c.14338T>G (p.Phe4780Val)
c.14254T>G (p.Phe4752Val)
19g.38578182T>ACA405685289RYR1c.1278T>A
c.2675T>A
c.2647T>A
c.14342T>A (p.Phe4781Tyr)
c.14327T>A (p.Phe4776Tyr)
c.14324T>A (p.Phe4775Tyr)
c.14309T>A (p.Phe4770Tyr)
c.14339T>A (p.Phe4780Tyr)
c.14255T>A (p.Phe4752Tyr)
19g.38578182T>CCA405685294RYR1c.1278T>C
c.2675T>C
c.2647T>C
c.14342T>C (p.Phe4781Ser)
c.14327T>C (p.Phe4776Ser)
c.14324T>C (p.Phe4775Ser)
c.14309T>C (p.Phe4770Ser)
c.14339T>C (p.Phe4780Ser)
c.14255T>C (p.Phe4752Ser)
 ClinVar
19g.38578182T>GCA405685296RYR1c.1278T>G
c.2675T>G
c.2647T>G
c.14342T>G (p.Phe4781Cys)
c.14327T>G (p.Phe4776Cys)
c.14324T>G (p.Phe4775Cys)
c.14309T>G (p.Phe4770Cys)
c.14339T>G (p.Phe4780Cys)
c.14255T>G (p.Phe4752Cys)
19g.38578183C>ACA405685301RYR1c.1279C>A
c.2676C>A
c.2648C>A
c.14343C>A (p.Phe4781Leu)
c.14328C>A (p.Phe4776Leu)
c.14325C>A (p.Phe4775Leu)
c.14310C>A (p.Phe4770Leu)
c.14340C>A (p.Phe4780Leu)
c.14256C>A (p.Phe4752Leu)
19g.38578183C=CA2335091408RYR1c.1279C=
c.2676C=
c.2648C=
c.14343C= (p.Phe4781=)
c.14328C= (p.Phe4776=)
c.14325C= (p.Phe4775=)
c.14310C= (p.Phe4770=)
c.14340C= (p.Phe4780=)
c.14256C= (p.Phe4752=)
19g.38578183C>GCA405685304RYR1c.1279C>G
c.2676C>G
c.2648C>G
c.14343C>G (p.Phe4781Leu)
c.14328C>G (p.Phe4776Leu)
c.14325C>G (p.Phe4775Leu)
c.14310C>G (p.Phe4770Leu)
c.14340C>G (p.Phe4780Leu)
c.14256C>G (p.Phe4752Leu)
19g.38578183C>TCA061121RYR1c.1279C>T
c.2676C>T
c.2648C>T
c.14343C>T (p.Phe4781=)
c.14328C>T (p.Phe4776=)
c.14325C>T (p.Phe4775=)
c.14310C>T (p.Phe4770=)
c.14340C>T (p.Phe4780=)
c.14256C>T (p.Phe4752=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38578184G>ACA061124RYR1c.1280G>A
c.2677G>A
c.2649G>A
c.14344G>A (p.Gly4782Arg)
c.14329G>A (p.Gly4777Arg)
c.14326G>A (p.Gly4776Arg)
c.14311G>A (p.Gly4771Arg)
c.14341G>A (p.Gly4781Arg)
c.14257G>A (p.Gly4753Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.[38578184G>A;38586150C>G]CA2499306184RYR1c.[1280G>A;1864C>G]
c.[2677G>A;3261C>G]
c.[2649G>A;3233C>G]
c.[14344G>A;14928C>G] (p.[Gly4782Arg;Phe4976Leu])
c.[14329G>A;14913C>G] (p.[Gly4777Arg;Phe4971Leu])
c.[14326G>A;14910C>G] (p.[Gly4776Arg;Phe4970Leu])
c.[14311G>A;14895C>G] (p.[Gly4771Arg;Phe4965Leu])
c.[14341G>A;14925C>G] (p.[Gly4781Arg;Phe4975Leu])
c.[14257G>A;14841C>G] (p.[Gly4753Arg;Phe4947Leu])
19g.38578184G>CCA405685311RYR1c.1280G>C
c.2677G>C
c.2649G>C
c.14344G>C (p.Gly4782Arg)
c.14329G>C (p.Gly4777Arg)
c.14326G>C (p.Gly4776Arg)
c.14311G>C (p.Gly4771Arg)
c.14341G>C (p.Gly4781Arg)
c.14257G>C (p.Gly4753Arg)
19g.38578184G=CA2335091409RYR1c.1280G=
c.2677G=
c.2649G=
c.14344G= (p.Gly4782=)
c.14329G= (p.Gly4777=)
c.14326G= (p.Gly4776=)
c.14311G= (p.Gly4771=)
c.14341G= (p.Gly4781=)
c.14257G= (p.Gly4753=)
19g.38578184G>TCA405685306RYR1c.1280G>T
c.2677G>T
c.2649G>T
c.14344G>T (p.Gly4782Trp)
c.14329G>T (p.Gly4777Trp)
c.14326G>T (p.Gly4776Trp)
c.14311G>T (p.Gly4771Trp)
c.14341G>T (p.Gly4781Trp)
c.14257G>T (p.Gly4753Trp)
 dbSNP gnomAD v3 gnomAD v4
19g.38578185G>ACA405685316RYR1c.1281G>A
c.2678G>A
c.2650G>A
c.14345G>A (p.Gly4782Glu)
c.14330G>A (p.Gly4777Glu)
c.14327G>A (p.Gly4776Glu)
c.14312G>A (p.Gly4771Glu)
c.14342G>A (p.Gly4781Glu)
c.14258G>A (p.Gly4753Glu)
 ClinVar
19g.38578185G>CCA405685313RYR1c.1281G>C
c.2678G>C
c.2650G>C
c.14345G>C (p.Gly4782Ala)
c.14330G>C (p.Gly4777Ala)
c.14327G>C (p.Gly4776Ala)
c.14312G>C (p.Gly4771Ala)
c.14342G>C (p.Gly4781Ala)
c.14258G>C (p.Gly4753Ala)
19g.38578185G=CA2335091410RYR1c.1281G=
c.2678G=
c.2650G=
c.14345G= (p.Gly4782=)
c.14330G= (p.Gly4777=)
c.14327G= (p.Gly4776=)
c.14312G= (p.Gly4771=)
c.14342G= (p.Gly4781=)
c.14258G= (p.Gly4753=)
19g.38578185G>TCA061127RYR1c.1281G>T
c.2678G>T
c.2650G>T
c.14345G>T (p.Gly4782Val)
c.14330G>T (p.Gly4777Val)
c.14327G>T (p.Gly4776Val)
c.14312G>T (p.Gly4771Val)
c.14342G>T (p.Gly4781Val)
c.14258G>T (p.Gly4753Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38578186G>ACA507245934RYR1c.1282G>A
c.2679G>A
c.2651G>A
c.14346G>A (p.Gly4782=)
c.14331G>A (p.Gly4777=)
c.14328G>A (p.Gly4776=)
c.14313G>A (p.Gly4771=)
c.14343G>A (p.Gly4781=)
c.14259G>A (p.Gly4753=)
 ClinVar dbSNP gnomAD v4
19g.38578186G>CCA507245935RYR1c.1282G>C
c.2679G>C
c.2651G>C
c.14346G>C (p.Gly4782=)
c.14331G>C (p.Gly4777=)
c.14328G>C (p.Gly4776=)
c.14313G>C (p.Gly4771=)
c.14343G>C (p.Gly4781=)
c.14259G>C (p.Gly4753=)
19g.38578186G=CA2335091411RYR1c.1282G=
c.2679G=
c.2651G=
c.14346G= (p.Gly4782=)
c.14331G= (p.Gly4777=)
c.14328G= (p.Gly4776=)
c.14313G= (p.Gly4771=)
c.14343G= (p.Gly4781=)
c.14259G= (p.Gly4753=)
19g.38578186G>TCA081188RYR1c.1282G>T
c.2679G>T
c.2651G>T
c.14346G>T (p.Gly4782=)
c.14331G>T (p.Gly4777=)
c.14328G>T (p.Gly4776=)
c.14313G>T (p.Gly4771=)
c.14343G>T (p.Gly4781=)
c.14259G>T (p.Gly4753=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38578187G>ACA081189RYR1c.1283G>A
c.2680G>A
c.2652G>A
c.14347G>A (p.Val4783Ile)
c.14332G>A (p.Val4778Ile)
c.14329G>A (p.Val4777Ile)
c.14314G>A (p.Val4772Ile)
c.14344G>A (p.Val4782Ile)
c.14260G>A (p.Val4754Ile)
19g.38578187G>CCA405685337RYR1c.1283G>C
c.2680G>C
c.2652G>C
c.14347G>C (p.Val4783Leu)
c.14332G>C (p.Val4778Leu)
c.14329G>C (p.Val4777Leu)
c.14314G>C (p.Val4772Leu)
c.14344G>C (p.Val4782Leu)
c.14260G>C (p.Val4754Leu)
19g.38578187G>TCA405685339RYR1c.1283G>T
c.2680G>T
c.2652G>T
c.14347G>T (p.Val4783Phe)
c.14332G>T (p.Val4778Phe)
c.14329G>T (p.Val4777Phe)
c.14314G>T (p.Val4772Phe)
c.14344G>T (p.Val4782Phe)
c.14260G>T (p.Val4754Phe)
19g.38578188T>ACA405685342RYR1c.1284T>A
c.2681T>A
c.2653T>A
c.14348T>A (p.Val4783Asp)
c.14333T>A (p.Val4778Asp)
c.14330T>A (p.Val4777Asp)
c.14315T>A (p.Val4772Asp)
c.14345T>A (p.Val4782Asp)
c.14261T>A (p.Val4754Asp)
19g.38578188T>CCA405685345RYR1c.1284T>C
c.2681T>C
c.2653T>C
c.14348T>C (p.Val4783Ala)
c.14333T>C (p.Val4778Ala)
c.14330T>C (p.Val4777Ala)
c.14315T>C (p.Val4772Ala)
c.14345T>C (p.Val4782Ala)
c.14261T>C (p.Val4754Ala)
19g.38578188T>GCA405685351RYR1c.1284T>G
c.2681T>G
c.2653T>G
c.14348T>G (p.Val4783Gly)
c.14333T>G (p.Val4778Gly)
c.14330T>G (p.Val4777Gly)
c.14315T>G (p.Val4772Gly)
c.14345T>G (p.Val4782Gly)
c.14261T>G (p.Val4754Gly)
19g.38578189C>ACA507245938RYR1c.1285C>A
c.2682C>A
c.2654C>A
c.14349C>A (p.Val4783=)
c.14334C>A (p.Val4778=)
c.14331C>A (p.Val4777=)
c.14316C>A (p.Val4772=)
c.14346C>A (p.Val4782=)
c.14262C>A (p.Val4754=)
19g.38578189C>GCA507245939RYR1c.1285C>G
c.2682C>G
c.2654C>G
c.14349C>G (p.Val4783=)
c.14334C>G (p.Val4778=)
c.14331C>G (p.Val4777=)
c.14316C>G (p.Val4772=)
c.14346C>G (p.Val4782=)
c.14262C>G (p.Val4754=)
19g.38578189C>TCA507245940RYR1c.1285C>T
c.2682C>T
c.2654C>T
c.14349C>T (p.Val4783=)
c.14334C>T (p.Val4778=)
c.14331C>T (p.Val4777=)
c.14316C>T (p.Val4772=)
c.14346C>T (p.Val4782=)
c.14262C>T (p.Val4754=)
19g.38578190A=CA2335091412RYR1c.1286A=
c.2683A=
c.2655A=
c.14350A= (p.Ile4784=)
c.14335A= (p.Ile4779=)
c.14332A= (p.Ile4778=)
c.14317A= (p.Ile4773=)
c.14347A= (p.Ile4783=)
c.14263A= (p.Ile4755=)
19g.38578190A>CCA405685354RYR1c.1286A>C
c.2683A>C
c.2655A>C
c.14350A>C (p.Ile4784Leu)
c.14335A>C (p.Ile4779Leu)
c.14332A>C (p.Ile4778Leu)
c.14317A>C (p.Ile4773Leu)
c.14347A>C (p.Ile4783Leu)
c.14263A>C (p.Ile4755Leu)
 ClinVar dbSNP
19g.38578190A>GCA405685358RYR1c.1286A>G
c.2683A>G
c.2655A>G
c.14350A>G (p.Ile4784Val)
c.14335A>G (p.Ile4779Val)
c.14332A>G (p.Ile4778Val)
c.14317A>G (p.Ile4773Val)
c.14347A>G (p.Ile4783Val)
c.14263A>G (p.Ile4755Val)
19g.38578190A>TCA081170RYR1c.1286A>T
c.2683A>T
c.2655A>T
c.14350A>T (p.Ile4784Phe)
c.14335A>T (p.Ile4779Phe)
c.14332A>T (p.Ile4778Phe)
c.14317A>T (p.Ile4773Phe)
c.14347A>T (p.Ile4783Phe)
c.14263A>T (p.Ile4755Phe)
19g.38578191T>ACA405685365RYR1c.1287T>A
c.2684T>A
c.2656T>A
c.14351T>A (p.Ile4784Asn)
c.14336T>A (p.Ile4779Asn)
c.14333T>A (p.Ile4778Asn)
c.14318T>A (p.Ile4773Asn)
c.14348T>A (p.Ile4783Asn)
c.14264T>A (p.Ile4755Asn)
19g.38578191T>CCA405685368RYR1c.1287T>C
c.2684T>C
c.2656T>C
c.14351T>C (p.Ile4784Thr)
c.14336T>C (p.Ile4779Thr)
c.14333T>C (p.Ile4778Thr)
c.14318T>C (p.Ile4773Thr)
c.14348T>C (p.Ile4783Thr)
c.14264T>C (p.Ile4755Thr)
19g.38578191T>GCA405685370RYR1c.1287T>G
c.2684T>G
c.2656T>G
c.14351T>G (p.Ile4784Ser)
c.14336T>G (p.Ile4779Ser)
c.14333T>G (p.Ile4778Ser)
c.14318T>G (p.Ile4773Ser)
c.14348T>G (p.Ile4783Ser)
c.14264T>G (p.Ile4755Ser)
19g.38578192C>ACA507245942RYR1c.1288C>A
c.2685C>A
c.2657C>A
c.14352C>A (p.Ile4784=)
c.14337C>A (p.Ile4779=)
c.14334C>A (p.Ile4778=)
c.14319C>A (p.Ile4773=)
c.14349C>A (p.Ile4783=)
c.14265C>A (p.Ile4755=)
19g.38578192C>GCA405685372RYR1c.1288C>G
c.2685C>G
c.2657C>G
c.14352C>G (p.Ile4784Met)
c.14337C>G (p.Ile4779Met)
c.14334C>G (p.Ile4778Met)
c.14319C>G (p.Ile4773Met)
c.14349C>G (p.Ile4783Met)
c.14265C>G (p.Ile4755Met)
19g.38578192C>TCA507245945RYR1c.1288C>T
c.2685C>T
c.2657C>T
c.14352C>T (p.Ile4784=)
c.14337C>T (p.Ile4779=)
c.14334C>T (p.Ile4778=)
c.14319C>T (p.Ile4773=)
c.14349C>T (p.Ile4783=)
c.14265C>T (p.Ile4755=)
19g.38578193T>ACA405685373RYR1c.1289T>A
c.2686T>A
c.2658T>A
c.14353T>A (p.Phe4785Ile)
c.14338T>A (p.Phe4780Ile)
c.14335T>A (p.Phe4779Ile)
c.14320T>A (p.Phe4774Ile)
c.14350T>A (p.Phe4784Ile)
c.14266T>A (p.Phe4756Ile)
19g.38578193T>CCA405685374RYR1c.1289T>C
c.2686T>C
c.2658T>C
c.14353T>C (p.Phe4785Leu)
c.14338T>C (p.Phe4780Leu)
c.14335T>C (p.Phe4779Leu)
c.14320T>C (p.Phe4774Leu)
c.14350T>C (p.Phe4784Leu)
c.14266T>C (p.Phe4756Leu)
 ClinVar gnomAD v4
19g.38578193T>GCA405685376RYR1c.1289T>G
c.2686T>G
c.2658T>G
c.14353T>G (p.Phe4785Val)
c.14338T>G (p.Phe4780Val)
c.14335T>G (p.Phe4779Val)
c.14320T>G (p.Phe4774Val)
c.14350T>G (p.Phe4784Val)
c.14266T>G (p.Phe4756Val)
 dbSNP
19g.38578193T=CA2335091413RYR1c.1289T=
c.2686T=
c.2658T=
c.14353T= (p.Phe4785=)
c.14338T= (p.Phe4780=)
c.14335T= (p.Phe4779=)
c.14320T= (p.Phe4774=)
c.14350T= (p.Phe4784=)
c.14266T= (p.Phe4756=)
19g.38578194T>ACA405685380RYR1c.1290T>A
c.2687T>A
c.2659T>A
c.14354T>A (p.Phe4785Tyr)
c.14339T>A (p.Phe4780Tyr)
c.14336T>A (p.Phe4779Tyr)
c.14321T>A (p.Phe4774Tyr)
c.14351T>A (p.Phe4784Tyr)
c.14267T>A (p.Phe4756Tyr)
19g.38578194T>CCA405685385RYR1c.1290T>C
c.2687T>C
c.2659T>C
c.14354T>C (p.Phe4785Ser)
c.14339T>C (p.Phe4780Ser)
c.14336T>C (p.Phe4779Ser)
c.14321T>C (p.Phe4774Ser)
c.14351T>C (p.Phe4784Ser)
c.14267T>C (p.Phe4756Ser)
19g.38578194T>GCA405685388RYR1c.1290T>G
c.2687T>G
c.2659T>G
c.14354T>G (p.Phe4785Cys)
c.14339T>G (p.Phe4780Cys)
c.14336T>G (p.Phe4779Cys)
c.14321T>G (p.Phe4774Cys)
c.14351T>G (p.Phe4784Cys)
c.14267T>G (p.Phe4756Cys)
19g.38578195C>ACA405685391RYR1c.1291C>A
c.2688C>A
c.2660C>A
c.14355C>A (p.Phe4785Leu)
c.14340C>A (p.Phe4780Leu)
c.14337C>A (p.Phe4779Leu)
c.14322C>A (p.Phe4774Leu)
c.14352C>A (p.Phe4784Leu)
c.14268C>A (p.Phe4756Leu)
19g.38578195C=CA2335091414RYR1c.1291C=
c.2688C=
c.2660C=
c.14355C= (p.Phe4785=)
c.14340C= (p.Phe4780=)
c.14337C= (p.Phe4779=)
c.14322C= (p.Phe4774=)
c.14352C= (p.Phe4784=)
c.14268C= (p.Phe4756=)
19g.38578195C>GCA405685401RYR1c.1291C>G
c.2688C>G
c.2660C>G
c.14355C>G (p.Phe4785Leu)
c.14340C>G (p.Phe4780Leu)
c.14337C>G (p.Phe4779Leu)
c.14322C>G (p.Phe4774Leu)
c.14352C>G (p.Phe4784Leu)
c.14268C>G (p.Phe4756Leu)
 dbSNP
19g.38578195C>TCA507245946RYR1c.1291C>T
c.2688C>T
c.2660C>T
c.14355C>T (p.Phe4785=)
c.14340C>T (p.Phe4780=)
c.14337C>T (p.Phe4779=)
c.14322C>T (p.Phe4774=)
c.14352C>T (p.Phe4784=)
c.14268C>T (p.Phe4756=)
 gnomAD v4
19g.38578196A>CCA405685406RYR1c.1292A>C
c.2689A>C
c.2661A>C
c.14356A>C (p.Thr4786Pro)
c.14341A>C (p.Thr4781Pro)
c.14338A>C (p.Thr4780Pro)
c.14323A>C (p.Thr4775Pro)
c.14353A>C (p.Thr4785Pro)
c.14269A>C (p.Thr4757Pro)
19g.38578196A>GCA405685409RYR1c.1292A>G
c.2689A>G
c.2661A>G
c.14356A>G (p.Thr4786Ala)
c.14341A>G (p.Thr4781Ala)
c.14338A>G (p.Thr4780Ala)
c.14323A>G (p.Thr4775Ala)
c.14353A>G (p.Thr4785Ala)
c.14269A>G (p.Thr4757Ala)
19g.38578196A>TCA405685413RYR1c.1292A>T
c.2689A>T
c.2661A>T
c.14356A>T (p.Thr4786Ser)
c.14341A>T (p.Thr4781Ser)
c.14338A>T (p.Thr4780Ser)
c.14323A>T (p.Thr4775Ser)
c.14353A>T (p.Thr4785Ser)
c.14269A>T (p.Thr4757Ser)
19g.38578197delCA2584910739RYR1c.1293del
c.2690del
c.2662del
c.14357del (p.Thr4786LysfsTer13)
c.14342del (p.Thr4781LysfsTer13)
c.14339del (p.Thr4780LysfsTer13)
c.14324del (p.Thr4775LysfsTer13)
c.14354del (p.Thr4785LysfsTer13)
c.14270del (p.Thr4757LysfsTer13)
 gnomAD v4
19g.38578197C>ACA405685415RYR1c.1293C>A
c.2690C>A
c.2662C>A
c.14357C>A (p.Thr4786Lys)
c.14342C>A (p.Thr4781Lys)
c.14339C>A (p.Thr4780Lys)
c.14324C>A (p.Thr4775Lys)
c.14354C>A (p.Thr4785Lys)
c.14270C>A (p.Thr4757Lys)
19g.38578197C>GCA405685419RYR1c.1293C>G
c.2690C>G
c.2662C>G
c.14357C>G (p.Thr4786Arg)
c.14342C>G (p.Thr4781Arg)
c.14339C>G (p.Thr4780Arg)
c.14324C>G (p.Thr4775Arg)
c.14354C>G (p.Thr4785Arg)
c.14270C>G (p.Thr4757Arg)
19g.38578197C>TCA405685435RYR1c.1293C>T
c.2690C>T
c.2662C>T
c.14357C>T (p.Thr4786Ile)
c.14342C>T (p.Thr4781Ile)
c.14339C>T (p.Thr4780Ile)
c.14324C>T (p.Thr4775Ile)
c.14354C>T (p.Thr4785Ile)
c.14270C>T (p.Thr4757Ile)
19g.38578198A>CCA507245947RYR1c.1294A>C
c.2691A>C
c.2663A>C
c.14358A>C (p.Thr4786=)
c.14343A>C (p.Thr4781=)
c.14340A>C (p.Thr4780=)
c.14325A>C (p.Thr4775=)
c.14355A>C (p.Thr4785=)
c.14271A>C (p.Thr4757=)
19g.38578198A>GCA507245948RYR1c.1294A>G
c.2691A>G
c.2663A>G
c.14358A>G (p.Thr4786=)
c.14343A>G (p.Thr4781=)
c.14340A>G (p.Thr4780=)
c.14325A>G (p.Thr4775=)
c.14355A>G (p.Thr4785=)
c.14271A>G (p.Thr4757=)
19g.38578198A>TCA507245950RYR1c.1294A>T
c.2691A>T
c.2663A>T
c.14358A>T (p.Thr4786=)
c.14343A>T (p.Thr4781=)
c.14340A>T (p.Thr4780=)
c.14325A>T (p.Thr4775=)
c.14355A>T (p.Thr4785=)
c.14271A>T (p.Thr4757=)
19g.38578199G>ACA405685437RYR1c.1295G>A
c.2692G>A
c.2664G>A
c.14359G>A (p.Asp4787Asn)
c.14344G>A (p.Asp4782Asn)
c.14341G>A (p.Asp4781Asn)
c.14326G>A (p.Asp4776Asn)
c.14356G>A (p.Asp4786Asn)
c.14272G>A (p.Asp4758Asn)
19g.38578199G>CCA405685445RYR1c.1295G>C
c.2692G>C
c.2664G>C
c.14359G>C (p.Asp4787His)
c.14344G>C (p.Asp4782His)
c.14341G>C (p.Asp4781His)
c.14326G>C (p.Asp4776His)
c.14356G>C (p.Asp4786His)
c.14272G>C (p.Asp4758His)
19g.38578199G>TCA405685443RYR1c.1295G>T
c.2692G>T
c.2664G>T
c.14359G>T (p.Asp4787Tyr)
c.14344G>T (p.Asp4782Tyr)
c.14341G>T (p.Asp4781Tyr)
c.14326G>T (p.Asp4776Tyr)
c.14356G>T (p.Asp4786Tyr)
c.14272G>T (p.Asp4758Tyr)
19g.38578200A>CCA405685452RYR1c.1296A>C
c.2693A>C
c.2665A>C
c.14360A>C (p.Asp4787Ala)
c.14345A>C (p.Asp4782Ala)
c.14342A>C (p.Asp4781Ala)
c.14327A>C (p.Asp4776Ala)
c.14357A>C (p.Asp4786Ala)
c.14273A>C (p.Asp4758Ala)
19g.38578200A>GCA405685453RYR1c.1296A>G
c.2693A>G
c.2665A>G
c.14360A>G (p.Asp4787Gly)
c.14345A>G (p.Asp4782Gly)
c.14342A>G (p.Asp4781Gly)
c.14327A>G (p.Asp4776Gly)
c.14357A>G (p.Asp4786Gly)
c.14273A>G (p.Asp4758Gly)
19g.38578200A>TCA405685454RYR1c.1296A>T
c.2693A>T
c.2665A>T
c.14360A>T (p.Asp4787Val)
c.14345A>T (p.Asp4782Val)
c.14342A>T (p.Asp4781Val)
c.14327A>T (p.Asp4776Val)
c.14357A>T (p.Asp4786Val)
c.14273A>T (p.Asp4758Val)
19g.38578201C>ACA405685455RYR1c.1297C>A
c.2694C>A
c.2666C>A
c.14361C>A (p.Asp4787Glu)
c.14346C>A (p.Asp4782Glu)
c.14343C>A (p.Asp4781Glu)
c.14328C>A (p.Asp4776Glu)
c.14358C>A (p.Asp4786Glu)
c.14274C>A (p.Asp4758Glu)
19g.38578201C>GCA405685456RYR1c.1297C>G
c.2694C>G
c.2666C>G
c.14361C>G (p.Asp4787Glu)
c.14346C>G (p.Asp4782Glu)
c.14343C>G (p.Asp4781Glu)
c.14328C>G (p.Asp4776Glu)
c.14358C>G (p.Asp4786Glu)
c.14274C>G (p.Asp4758Glu)
19g.38578201C>TCA507245951RYR1c.1297C>T
c.2694C>T
c.2666C>T
c.14361C>T (p.Asp4787=)
c.14346C>T (p.Asp4782=)
c.14343C>T (p.Asp4781=)
c.14328C>T (p.Asp4776=)
c.14358C>T (p.Asp4786=)
c.14274C>T (p.Asp4758=)
19g.38578202A>CCA405685463RYR1c.1298A>C
c.2695A>C
c.2667A>C
c.14362A>C (p.Asn4788His)
c.14347A>C (p.Asn4783His)
c.14344A>C (p.Asn4782His)
c.14329A>C (p.Asn4777His)
c.14359A>C (p.Asn4787His)
c.14275A>C (p.Asn4759His)
19g.38578202A>GCA405685462RYR1c.1298A>G
c.2695A>G
c.2667A>G
c.14362A>G (p.Asn4788Asp)
c.14347A>G (p.Asn4783Asp)
c.14344A>G (p.Asn4782Asp)
c.14329A>G (p.Asn4777Asp)
c.14359A>G (p.Asn4787Asp)
c.14275A>G (p.Asn4759Asp)
 gnomAD v4
19g.38578202A>TCA405685459RYR1c.1298A>T
c.2695A>T
c.2667A>T
c.14362A>T (p.Asn4788Tyr)
c.14347A>T (p.Asn4783Tyr)
c.14344A>T (p.Asn4782Tyr)
c.14329A>T (p.Asn4777Tyr)
c.14359A>T (p.Asn4787Tyr)
c.14275A>T (p.Asn4759Tyr)
19g.38578203A=CA2335091415RYR1c.1299A=
c.2696A=
c.2668A=
c.14363A= (p.Asn4788=)
c.14348A= (p.Asn4783=)
c.14345A= (p.Asn4782=)
c.14330A= (p.Asn4777=)
c.14360A= (p.Asn4787=)
c.14276A= (p.Asn4759=)
19g.38578203A>CCA405685466RYR1c.1299A>C
c.2696A>C
c.2668A>C
c.14363A>C (p.Asn4788Thr)
c.14348A>C (p.Asn4783Thr)
c.14345A>C (p.Asn4782Thr)
c.14330A>C (p.Asn4777Thr)
c.14360A>C (p.Asn4787Thr)
c.14276A>C (p.Asn4759Thr)
19g.38578203A>GCA061135RYR1c.1299A>G
c.2696A>G
c.2668A>G
c.14363A>G (p.Asn4788Ser)
c.14348A>G (p.Asn4783Ser)
c.14345A>G (p.Asn4782Ser)
c.14330A>G (p.Asn4777Ser)
c.14360A>G (p.Asn4787Ser)
c.14276A>G (p.Asn4759Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38578203A>TCA405685468RYR1c.1299A>T
c.2696A>T
c.2668A>T
c.14363A>T (p.Asn4788Ile)
c.14348A>T (p.Asn4783Ile)
c.14345A>T (p.Asn4782Ile)
c.14330A>T (p.Asn4777Ile)
c.14360A>T (p.Asn4787Ile)
c.14276A>T (p.Asn4759Ile)
19g.38578204C>ACA405685470RYR1c.1300C>A
c.2697C>A
c.2669C>A
c.14364C>A (p.Asn4788Lys)
c.14349C>A (p.Asn4783Lys)
c.14346C>A (p.Asn4782Lys)
c.14331C>A (p.Asn4777Lys)
c.14361C>A (p.Asn4787Lys)
c.14277C>A (p.Asn4759Lys)
19g.38578204C=CA2335091416RYR1c.1300C=
c.2697C=
c.2669C=
c.14364C= (p.Asn4788=)
c.14349C= (p.Asn4783=)
c.14346C= (p.Asn4782=)
c.14331C= (p.Asn4777=)
c.14361C= (p.Asn4787=)
c.14277C= (p.Asn4759=)
19g.38578204C>GCA405685473RYR1c.1300C>G
c.2697C>G
c.2669C>G
c.14364C>G (p.Asn4788Lys)
c.14349C>G (p.Asn4783Lys)
c.14346C>G (p.Asn4782Lys)
c.14331C>G (p.Asn4777Lys)
c.14361C>G (p.Asn4787Lys)
c.14277C>G (p.Asn4759Lys)
 gnomAD v4
19g.38578204C>TCA061164RYR1c.1300C>T
c.2697C>T
c.2669C>T
c.14364C>T (p.Asn4788=)
c.14349C>T (p.Asn4783=)
c.14346C>T (p.Asn4782=)
c.14331C>T (p.Asn4777=)
c.14361C>T (p.Asn4787=)
c.14277C>T (p.Asn4759=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38578205G>ACA405685479RYR1c.1300+1G>A
c.2697+1G>A
c.2669+1G>A
c.14364+1G>A (n.14364+1G>A)
c.14349+1G>A (n.14349+1G>A)
c.14346+1G>A (n.14346+1G>A)
c.14331+1G>A (n.14331+1G>A)
c.14361+1G>A (n.14361+1G>A)
c.14277+1G>A (n.14277+1G>A)
 ClinVar dbSNP gnomAD v4
19g.38578205G>CCA405685494RYR1c.1300+1G>C
c.2697+1G>C
c.2669+1G>C
c.14364+1G>C (n.14364+1G>C)
c.14349+1G>C (n.14349+1G>C)
c.14346+1G>C (n.14346+1G>C)
c.14331+1G>C (n.14331+1G>C)
c.14361+1G>C (n.14361+1G>C)
c.14277+1G>C (n.14277+1G>C)
19g.38578205G=CA2335091417RYR1c.1300+1G=
c.2697+1G=
c.2669+1G=
c.14364+1G= (n.14364+1G=)
c.14349+1G= (n.14349+1G=)
c.14346+1G= (n.14346+1G=)
c.14331+1G= (n.14331+1G=)
c.14361+1G= (n.14361+1G=)
c.14277+1G= (n.14277+1G=)
19g.38578205G>TCA405685492RYR1c.1300+1G>T
c.2697+1G>T
c.2669+1G>T
c.14364+1G>T (n.14364+1G>T)
c.14349+1G>T (n.14349+1G>T)
c.14346+1G>T (n.14346+1G>T)
c.14331+1G>T (n.14331+1G>T)
c.14361+1G>T (n.14361+1G>T)
c.14277+1G>T (n.14277+1G>T)
 ClinVar dbSNP gnomAD v4

Number of alleles fetched