Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38543728C=CA2335074492RYR1c.318-43C=
c.300-43C=
c.11908-43C= (n.11908-43C=)
c.11893-43C= (n.11893-43C=)
c.11890-43C= (n.11890-43C=)
c.517-43C=
c.5277-43C=
c.11875-43C= (n.11875-43C=)
c.11905-43C= (n.11905-43C=)
19g.38543728C>TCA632869698RYR1c.318-43C>T
c.300-43C>T
c.11908-43C>T (n.11908-43C>T)
c.11893-43C>T (n.11893-43C>T)
c.11890-43C>T (n.11890-43C>T)
c.517-43C>T
c.5277-43C>T
c.11875-43C>T (n.11875-43C>T)
c.11905-43C>T (n.11905-43C>T)
 dbSNP gnomAD v2 gnomAD v4
19g.38543729T>CCA2584908129RYR1c.318-42T>C
c.300-42T>C
c.11908-42T>C (n.11908-42T>C)
c.11893-42T>C (n.11893-42T>C)
c.11890-42T>C (n.11890-42T>C)
c.517-42T>C
c.5277-42T>C
c.11875-42T>C (n.11875-42T>C)
c.11905-42T>C (n.11905-42T>C)
 gnomAD v4
19g.38543730C>ACA2584908130RYR1c.318-41C>A
c.300-41C>A
c.11908-41C>A (n.11908-41C>A)
c.11893-41C>A (n.11893-41C>A)
c.11890-41C>A (n.11890-41C>A)
c.517-41C>A
c.5277-41C>A
c.11875-41C>A (n.11875-41C>A)
c.11905-41C>A (n.11905-41C>A)
 gnomAD v4
19g.38543730C=CA2335074493RYR1c.318-41C=
c.300-41C=
c.11908-41C= (n.11908-41C=)
c.11893-41C= (n.11893-41C=)
c.11890-41C= (n.11890-41C=)
c.517-41C=
c.5277-41C=
c.11875-41C= (n.11875-41C=)
c.11905-41C= (n.11905-41C=)
19g.38543730C>TCA632869700RYR1c.318-41C>T
c.300-41C>T
c.11908-41C>T (n.11908-41C>T)
c.11893-41C>T (n.11893-41C>T)
c.11890-41C>T (n.11890-41C>T)
c.517-41C>T
c.5277-41C>T
c.11875-41C>T (n.11875-41C>T)
c.11905-41C>T (n.11905-41C>T)
 dbSNP gnomAD v2 gnomAD v4
19g.38543731G>ACA057915RYR1c.318-40G>A
c.300-40G>A
c.11908-40G>A (n.11908-40G>A)
c.11893-40G>A (n.11893-40G>A)
c.11890-40G>A (n.11890-40G>A)
c.517-40G>A
c.5277-40G>A
c.11875-40G>A (n.11875-40G>A)
c.11905-40G>A (n.11905-40G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38543731G=CA2335074494RYR1c.318-40G=
c.300-40G=
c.11908-40G= (n.11908-40G=)
c.11893-40G= (n.11893-40G=)
c.11890-40G= (n.11890-40G=)
c.517-40G=
c.5277-40G=
c.11875-40G= (n.11875-40G=)
c.11905-40G= (n.11905-40G=)
19g.38543731G>TCA2576804841RYR1c.318-40G>T
c.300-40G>T
c.11908-40G>T (n.11908-40G>T)
c.11893-40G>T (n.11893-40G>T)
c.11890-40G>T (n.11890-40G>T)
c.517-40G>T
c.5277-40G>T
c.11875-40G>T (n.11875-40G>T)
c.11905-40G>T (n.11905-40G>T)
19g.38543732G>ACA2584908131RYR1c.318-39G>A
c.300-39G>A
c.11908-39G>A (n.11908-39G>A)
c.11893-39G>A (n.11893-39G>A)
c.11890-39G>A (n.11890-39G>A)
c.517-39G>A
c.5277-39G>A
c.11875-39G>A (n.11875-39G>A)
c.11905-39G>A (n.11905-39G>A)
 gnomAD v4
19g.38543732G>CCA2584908133RYR1c.318-39G>C
c.300-39G>C
c.11908-39G>C (n.11908-39G>C)
c.11893-39G>C (n.11893-39G>C)
c.11890-39G>C (n.11890-39G>C)
c.517-39G>C
c.5277-39G>C
c.11875-39G>C (n.11875-39G>C)
c.11905-39G>C (n.11905-39G>C)
 gnomAD v4
19g.38543732G>TCA2584908132RYR1c.318-39G>T
c.300-39G>T
c.11908-39G>T (n.11908-39G>T)
c.11893-39G>T (n.11893-39G>T)
c.11890-39G>T (n.11890-39G>T)
c.517-39G>T
c.5277-39G>T
c.11875-39G>T (n.11875-39G>T)
c.11905-39G>T (n.11905-39G>T)
 gnomAD v4
19g.38543734G>ACA080535RYR1c.318-37G>A
c.300-37G>A
c.11908-37G>A (n.11908-37G>A)
c.11893-37G>A (n.11893-37G>A)
c.11890-37G>A (n.11890-37G>A)
c.517-37G>A
c.5277-37G>A
c.11875-37G>A (n.11875-37G>A)
c.11905-37G>A (n.11905-37G>A)
19g.38543734G=CA2335074496RYR1c.318-37G=
c.300-37G=
c.11908-37G= (n.11908-37G=)
c.11893-37G= (n.11893-37G=)
c.11890-37G= (n.11890-37G=)
c.517-37G=
c.5277-37G=
c.11875-37G= (n.11875-37G=)
c.11905-37G= (n.11905-37G=)
19g.38543734G>TCA2335074495RYR1c.318-37G>T
c.300-37G>T
c.11908-37G>T (n.11908-37G>T)
c.11893-37G>T (n.11893-37G>T)
c.11890-37G>T (n.11890-37G>T)
c.517-37G>T
c.5277-37G>T
c.11875-37G>T (n.11875-37G>T)
c.11905-37G>T (n.11905-37G>T)
 dbSNP gnomAD v4
19g.38543735A=CA2335074497RYR1c.318-36A=
c.300-36A=
c.11908-36A= (n.11908-36A=)
c.11893-36A= (n.11893-36A=)
c.11890-36A= (n.11890-36A=)
c.517-36A=
c.5277-36A=
c.11875-36A= (n.11875-36A=)
c.11905-36A= (n.11905-36A=)
19g.38543735A>TCA882060815RYR1c.318-36A>T
c.300-36A>T
c.11908-36A>T (n.11908-36A>T)
c.11893-36A>T (n.11893-36A>T)
c.11890-36A>T (n.11890-36A>T)
c.517-36A>T
c.5277-36A>T
c.11875-36A>T (n.11875-36A>T)
c.11905-36A>T (n.11905-36A>T)
 dbSNP gnomAD v3 gnomAD v4
19g.38543737T>ACA057906RYR1c.318-34T>A
c.300-34T>A
c.11908-34T>A (n.11908-34T>A)
c.11893-34T>A (n.11893-34T>A)
c.11890-34T>A (n.11890-34T>A)
c.517-34T>A
c.5277-34T>A
c.11875-34T>A (n.11875-34T>A)
c.11905-34T>A (n.11905-34T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
19g.38543737T>CCA2814346200RYR1c.318-34T>C
c.300-34T>C
c.11908-34T>C (n.11908-34T>C)
c.11893-34T>C (n.11893-34T>C)
c.11890-34T>C (n.11890-34T>C)
c.517-34T>C
c.5277-34T>C
c.11875-34T>C (n.11875-34T>C)
c.11905-34T>C (n.11905-34T>C)
19g.38543737T=CA2335074498RYR1c.318-34T=
c.300-34T=
c.11908-34T= (n.11908-34T=)
c.11893-34T= (n.11893-34T=)
c.11890-34T= (n.11890-34T=)
c.517-34T=
c.5277-34T=
c.11875-34T= (n.11875-34T=)
c.11905-34T= (n.11905-34T=)
19g.38543738C>ACA057900RYR1c.318-33C>A
c.300-33C>A
c.11908-33C>A (n.11908-33C>A)
c.11893-33C>A (n.11893-33C>A)
c.11890-33C>A (n.11890-33C>A)
c.517-33C>A
c.5277-33C>A
c.11875-33C>A (n.11875-33C>A)
c.11905-33C>A (n.11905-33C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38543738C=CA2335074499RYR1c.318-33C=
c.300-33C=
c.11908-33C= (n.11908-33C=)
c.11893-33C= (n.11893-33C=)
c.11890-33C= (n.11890-33C=)
c.517-33C=
c.5277-33C=
c.11875-33C= (n.11875-33C=)
c.11905-33C= (n.11905-33C=)
19g.38543738C>TCA632869702RYR1c.318-33C>T
c.300-33C>T
c.11908-33C>T (n.11908-33C>T)
c.11893-33C>T (n.11893-33C>T)
c.11890-33C>T (n.11890-33C>T)
c.517-33C>T
c.5277-33C>T
c.11875-33C>T (n.11875-33C>T)
c.11905-33C>T (n.11905-33C>T)
 dbSNP gnomAD v2 gnomAD v4
19g.38543739C>ACA2576804842RYR1c.318-32C>A
c.300-32C>A
c.11908-32C>A (n.11908-32C>A)
c.11893-32C>A (n.11893-32C>A)
c.11890-32C>A (n.11890-32C>A)
c.517-32C>A
c.5277-32C>A
c.11875-32C>A (n.11875-32C>A)
c.11905-32C>A (n.11905-32C>A)
19g.38543739C=CA2335074500RYR1c.318-32C=
c.300-32C=
c.11908-32C= (n.11908-32C=)
c.11893-32C= (n.11893-32C=)
c.11890-32C= (n.11890-32C=)
c.517-32C=
c.5277-32C=
c.11875-32C= (n.11875-32C=)
c.11905-32C= (n.11905-32C=)
19g.38543739C>TCA632869703RYR1c.318-32C>T
c.300-32C>T
c.11908-32C>T (n.11908-32C>T)
c.11893-32C>T (n.11893-32C>T)
c.11890-32C>T (n.11890-32C>T)
c.517-32C>T
c.5277-32C>T
c.11875-32C>T (n.11875-32C>T)
c.11905-32C>T (n.11905-32C>T)
 dbSNP gnomAD v2
19g.38543740C>GCA2584908134RYR1c.318-31C>G
c.300-31C>G
c.11908-31C>G (n.11908-31C>G)
c.11893-31C>G (n.11893-31C>G)
c.11890-31C>G (n.11890-31C>G)
c.517-31C>G
c.5277-31C>G
c.11875-31C>G (n.11875-31C>G)
c.11905-31C>G (n.11905-31C>G)
 gnomAD v4
19g.38543742T>CCA632869704RYR1c.318-29T>C
c.300-29T>C
c.11908-29T>C (n.11908-29T>C)
c.11893-29T>C (n.11893-29T>C)
c.11890-29T>C (n.11890-29T>C)
c.517-29T>C
c.5277-29T>C
c.11875-29T>C (n.11875-29T>C)
c.11905-29T>C (n.11905-29T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38543742T=CA2335074502RYR1c.318-29T=
c.300-29T=
c.11908-29T= (n.11908-29T=)
c.11893-29T= (n.11893-29T=)
c.11890-29T= (n.11890-29T=)
c.517-29T=
c.5277-29T=
c.11875-29T= (n.11875-29T=)
c.11905-29T= (n.11905-29T=)
19g.38543742_38543743delinsTCCA2335074501RYR1c.318-29_318-28delinsTC
c.300-29_300-28delinsTC
c.11908-29_11908-28delinsTC (n.11908-29_11908-28delinsTC)
c.11893-29_11893-28delinsTC (n.11893-29_11893-28delinsTC)
c.11890-29_11890-28delinsTC (n.11890-29_11890-28delinsTC)
c.517-29_517-28delinsTC
c.5277-29_5277-28delinsTC
c.11875-29_11875-28delinsTC (n.11875-29_11875-28delinsTC)
c.11905-29_11905-28delinsTC (n.11905-29_11905-28delinsTC)
19g.38543743C>ACA057879RYR1c.318-28C>A
c.300-28C>A
c.11908-28C>A (n.11908-28C>A)
c.11893-28C>A (n.11893-28C>A)
c.11890-28C>A (n.11890-28C>A)
c.517-28C>A
c.5277-28C>A
c.11875-28C>A (n.11875-28C>A)
c.11905-28C>A (n.11905-28C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38543743C=CA2335074503RYR1c.318-28C=
c.300-28C=
c.11908-28C= (n.11908-28C=)
c.11893-28C= (n.11893-28C=)
c.11890-28C= (n.11890-28C=)
c.517-28C=
c.5277-28C=
c.11875-28C= (n.11875-28C=)
c.11905-28C= (n.11905-28C=)
19g.38543743C>GCA308092315RYR1c.318-28C>G
c.300-28C>G
c.11908-28C>G (n.11908-28C>G)
c.11893-28C>G (n.11893-28C>G)
c.11890-28C>G (n.11890-28C>G)
c.517-28C>G
c.5277-28C>G
c.11875-28C>G (n.11875-28C>G)
c.11905-28C>G (n.11905-28C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38543743C>TCA2576804843RYR1c.318-28C>T
c.300-28C>T
c.11908-28C>T (n.11908-28C>T)
c.11893-28C>T (n.11893-28C>T)
c.11890-28C>T (n.11890-28C>T)
c.517-28C>T
c.5277-28C>T
c.11875-28C>T (n.11875-28C>T)
c.11905-28C>T (n.11905-28C>T)
19g.38543749dupCA057886RYR1c.318-22dup
c.300-22dup
c.11908-22dup (n.11908-22dup)
c.11893-22dup (n.11893-22dup)
c.11890-22dup (n.11890-22dup)
c.517-22dup
c.5277-22dup
c.11875-22dup (n.11875-22dup)
c.11905-22dup (n.11905-22dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38543749delCA632869706RYR1c.318-22del
c.300-22del
c.11908-22del (n.11908-22del)
c.11893-22del (n.11893-22del)
c.11890-22del (n.11890-22del)
c.517-22del
c.5277-22del
c.11875-22del (n.11875-22del)
c.11905-22del (n.11905-22del)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.38543744C>GCA2576804844RYR1c.318-27C>G
c.300-27C>G
c.11908-27C>G (n.11908-27C>G)
c.11893-27C>G (n.11893-27C>G)
c.11890-27C>G (n.11890-27C>G)
c.517-27C>G
c.5277-27C>G
c.11875-27C>G (n.11875-27C>G)
c.11905-27C>G (n.11905-27C>G)
19g.38543744C>TCA2584908135RYR1c.318-27C>T
c.300-27C>T
c.11908-27C>T (n.11908-27C>T)
c.11893-27C>T (n.11893-27C>T)
c.11890-27C>T (n.11890-27C>T)
c.517-27C>T
c.5277-27C>T
c.11875-27C>T (n.11875-27C>T)
c.11905-27C>T (n.11905-27C>T)
 gnomAD v4
19g.38543746C>ACA080525RYR1c.318-25C>A
c.300-25C>A
c.11908-25C>A (n.11908-25C>A)
c.11893-25C>A (n.11893-25C>A)
c.11890-25C>A (n.11890-25C>A)
c.517-25C>A
c.5277-25C>A
c.11875-25C>A (n.11875-25C>A)
c.11905-25C>A (n.11905-25C>A)
 dbSNP gnomAD v3 gnomAD v4
19g.38543746C=CA2335074504RYR1c.318-25C=
c.300-25C=
c.11908-25C= (n.11908-25C=)
c.11893-25C= (n.11893-25C=)
c.11890-25C= (n.11890-25C=)
c.517-25C=
c.5277-25C=
c.11875-25C= (n.11875-25C=)
c.11905-25C= (n.11905-25C=)
19g.38543746C>GCA023945RYR1c.318-25C>G
c.300-25C>G
c.11908-25C>G (n.11908-25C>G)
c.11893-25C>G (n.11893-25C>G)
c.11890-25C>G (n.11890-25C>G)
c.517-25C>G
c.5277-25C>G
c.11875-25C>G (n.11875-25C>G)
c.11905-25C>G (n.11905-25C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38543746C>TCA308092316RYR1c.318-25C>T
c.300-25C>T
c.11908-25C>T (n.11908-25C>T)
c.11893-25C>T (n.11893-25C>T)
c.11890-25C>T (n.11890-25C>T)
c.517-25C>T
c.5277-25C>T
c.11875-25C>T (n.11875-25C>T)
c.11905-25C>T (n.11905-25C>T)
 dbSNP gnomAD v2 gnomAD v4
19g.38543747C>ACA632869712RYR1c.318-24C>A
c.300-24C>A
c.11908-24C>A (n.11908-24C>A)
c.11893-24C>A (n.11893-24C>A)
c.11890-24C>A (n.11890-24C>A)
c.517-24C>A
c.5277-24C>A
c.11875-24C>A (n.11875-24C>A)
c.11905-24C>A (n.11905-24C>A)
 dbSNP gnomAD v2 gnomAD v4
19g.38543747C=CA2335074505RYR1c.318-24C=
c.300-24C=
c.11908-24C= (n.11908-24C=)
c.11893-24C= (n.11893-24C=)
c.11890-24C= (n.11890-24C=)
c.517-24C=
c.5277-24C=
c.11875-24C= (n.11875-24C=)
c.11905-24C= (n.11905-24C=)
19g.38543747C>GCA057869RYR1c.318-24C>G
c.300-24C>G
c.11908-24C>G (n.11908-24C>G)
c.11893-24C>G (n.11893-24C>G)
c.11890-24C>G (n.11890-24C>G)
c.517-24C>G
c.5277-24C>G
c.11875-24C>G (n.11875-24C>G)
c.11905-24C>G (n.11905-24C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38543747C>TCA2335074506RYR1c.318-24C>T
c.300-24C>T
c.11908-24C>T (n.11908-24C>T)
c.11893-24C>T (n.11893-24C>T)
c.11890-24C>T (n.11890-24C>T)
c.517-24C>T
c.5277-24C>T
c.11875-24C>T (n.11875-24C>T)
c.11905-24C>T (n.11905-24C>T)
 dbSNP gnomAD v4
19g.38543748C>ACA2576804845RYR1c.318-23C>A
c.300-23C>A
c.11908-23C>A (n.11908-23C>A)
c.11893-23C>A (n.11893-23C>A)
c.11890-23C>A (n.11890-23C>A)
c.517-23C>A
c.5277-23C>A
c.11875-23C>A (n.11875-23C>A)
c.11905-23C>A (n.11905-23C>A)
 gnomAD v4
19g.38543748C=CA2335074507RYR1c.318-23C=
c.300-23C=
c.11908-23C= (n.11908-23C=)
c.11893-23C= (n.11893-23C=)
c.11890-23C= (n.11890-23C=)
c.517-23C=
c.5277-23C=
c.11875-23C= (n.11875-23C=)
c.11905-23C= (n.11905-23C=)
19g.38543748C>GCA057858RYR1c.318-23C>G
c.300-23C>G
c.11908-23C>G (n.11908-23C>G)
c.11893-23C>G (n.11893-23C>G)
c.11890-23C>G (n.11890-23C>G)
c.517-23C>G
c.5277-23C>G
c.11875-23C>G (n.11875-23C>G)
c.11905-23C>G (n.11905-23C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38543748C>TCA023943RYR1c.318-23C>T
c.300-23C>T
c.11908-23C>T (n.11908-23C>T)
c.11893-23C>T (n.11893-23C>T)
c.11890-23C>T (n.11890-23C>T)
c.517-23C>T
c.5277-23C>T
c.11875-23C>T (n.11875-23C>T)
c.11905-23C>T (n.11905-23C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38543749C>ACA057848RYR1c.318-22C>A
c.300-22C>A
c.11908-22C>A (n.11908-22C>A)
c.11893-22C>A (n.11893-22C>A)
c.11890-22C>A (n.11890-22C>A)
c.517-22C>A
c.5277-22C>A
c.11875-22C>A (n.11875-22C>A)
c.11905-22C>A (n.11905-22C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38543749C=CA2335074508RYR1c.318-22C=
c.300-22C=
c.11908-22C= (n.11908-22C=)
c.11893-22C= (n.11893-22C=)
c.11890-22C= (n.11890-22C=)
c.517-22C=
c.5277-22C=
c.11875-22C= (n.11875-22C=)
c.11905-22C= (n.11905-22C=)
19g.38543749C>GCA057849RYR1c.318-22C>G
c.300-22C>G
c.11908-22C>G (n.11908-22C>G)
c.11893-22C>G (n.11893-22C>G)
c.11890-22C>G (n.11890-22C>G)
c.517-22C>G
c.5277-22C>G
c.11875-22C>G (n.11875-22C>G)
c.11905-22C>G (n.11905-22C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38543749C>TCA057851RYR1c.318-22C>T
c.300-22C>T
c.11908-22C>T (n.11908-22C>T)
c.11893-22C>T (n.11893-22C>T)
c.11890-22C>T (n.11890-22C>T)
c.517-22C>T
c.5277-22C>T
c.11875-22C>T (n.11875-22C>T)
c.11905-22C>T (n.11905-22C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38543752_38543753dupCA632869719RYR1c.318-19_318-18dup
c.300-19_300-18dup
c.11908-19_11908-18dup (n.11908-19_11908-18dup)
c.11893-19_11893-18dup (n.11893-19_11893-18dup)
c.11890-19_11890-18dup (n.11890-19_11890-18dup)
c.517-19_517-18dup
c.5277-19_5277-18dup
c.11875-19_11875-18dup (n.11875-19_11875-18dup)
c.11905-19_11905-18dup (n.11905-19_11905-18dup)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38543749_38543750insCACA2584908136RYR1c.318-22_318-21insCA
c.300-22_300-21insCA
c.11908-22_11908-21insCA (n.11908-22_11908-21insCA)
c.11893-22_11893-21insCA (n.11893-22_11893-21insCA)
c.11890-22_11890-21insCA (n.11890-22_11890-21insCA)
c.517-22_517-21insCA
c.5277-22_5277-21insCA
c.11875-22_11875-21insCA (n.11875-22_11875-21insCA)
c.11905-22_11905-21insCA (n.11905-22_11905-21insCA)
 gnomAD v4
19g.38543750A=CA2335074509RYR1c.318-21A=
c.300-21A=
c.11908-21A= (n.11908-21A=)
c.11893-21A= (n.11893-21A=)
c.11890-21A= (n.11890-21A=)
c.517-21A=
c.5277-21A=
c.11875-21A= (n.11875-21A=)
c.11905-21A= (n.11905-21A=)
19g.38543750A>CCA057842RYR1c.318-21A>C
c.300-21A>C
c.11908-21A>C (n.11908-21A>C)
c.11893-21A>C (n.11893-21A>C)
c.11890-21A>C (n.11890-21A>C)
c.517-21A>C
c.5277-21A>C
c.11875-21A>C (n.11875-21A>C)
c.11905-21A>C (n.11905-21A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38543750dupCA9415935RYR1c.318-21dup
c.300-21dup
c.11908-21dup (n.11908-21dup)
c.11893-21dup (n.11893-21dup)
c.11890-21dup (n.11890-21dup)
c.517-21dup
c.5277-21dup
c.11875-21dup (n.11875-21dup)
c.11905-21dup (n.11905-21dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38543751C>ACA2739276751RYR1c.318-20C>A
c.300-20C>A
c.11908-20C>A (n.11908-20C>A)
c.11893-20C>A (n.11893-20C>A)
c.11890-20C>A (n.11890-20C>A)
c.517-20C>A
c.5277-20C>A
c.11875-20C>A (n.11875-20C>A)
c.11905-20C>A (n.11905-20C>A)
 ClinVar
19g.38543751C>GCA080520RYR1c.318-20C>G
c.300-20C>G
c.11908-20C>G (n.11908-20C>G)
c.11893-20C>G (n.11893-20C>G)
c.11890-20C>G (n.11890-20C>G)
c.517-20C>G
c.5277-20C>G
c.11875-20C>G (n.11875-20C>G)
c.11905-20C>G (n.11905-20C>G)
19g.38543751C>TCA080521RYR1c.318-20C>T
c.300-20C>T
c.11908-20C>T (n.11908-20C>T)
c.11893-20C>T (n.11893-20C>T)
c.11890-20C>T (n.11890-20C>T)
c.517-20C>T
c.5277-20C>T
c.11875-20C>T (n.11875-20C>T)
c.11905-20C>T (n.11905-20C>T)
19g.38543753C=CA2335074510RYR1c.318-18C=
c.300-18C=
c.11908-18C= (n.11908-18C=)
c.11893-18C= (n.11893-18C=)
c.11890-18C= (n.11890-18C=)
c.517-18C=
c.5277-18C=
c.11875-18C= (n.11875-18C=)
c.11905-18C= (n.11905-18C=)
19g.38543753C>GCA2576804846RYR1c.318-18C>G
c.300-18C>G
c.11908-18C>G (n.11908-18C>G)
c.11893-18C>G (n.11893-18C>G)
c.11890-18C>G (n.11890-18C>G)
c.517-18C>G
c.5277-18C>G
c.11875-18C>G (n.11875-18C>G)
c.11905-18C>G (n.11905-18C>G)
19g.38543753C>TCA632869732RYR1c.318-18C>T
c.300-18C>T
c.11908-18C>T (n.11908-18C>T)
c.11893-18C>T (n.11893-18C>T)
c.11890-18C>T (n.11890-18C>T)
c.517-18C>T
c.5277-18C>T
c.11875-18C>T (n.11875-18C>T)
c.11905-18C>T (n.11905-18C>T)
 dbSNP gnomAD v2 gnomAD v4
19g.38543754G>ACA2335074512RYR1c.318-17G>A
c.300-17G>A
c.11908-17G>A (n.11908-17G>A)
c.11893-17G>A (n.11893-17G>A)
c.11890-17G>A (n.11890-17G>A)
c.517-17G>A
c.5277-17G>A
c.11875-17G>A (n.11875-17G>A)
c.11905-17G>A (n.11905-17G>A)
 dbSNP gnomAD v4
19g.38543754G=CA2335074511RYR1c.318-17G=
c.300-17G=
c.11908-17G= (n.11908-17G=)
c.11893-17G= (n.11893-17G=)
c.11890-17G= (n.11890-17G=)
c.517-17G=
c.5277-17G=
c.11875-17G= (n.11875-17G=)
c.11905-17G= (n.11905-17G=)
19g.38543755G>ACA632869734RYR1c.318-16G>A
c.300-16G>A
c.11908-16G>A (n.11908-16G>A)
c.11893-16G>A (n.11893-16G>A)
c.11890-16G>A (n.11890-16G>A)
c.517-16G>A
c.5277-16G>A
c.11875-16G>A (n.11875-16G>A)
c.11905-16G>A (n.11905-16G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38543755G=CA2335074513RYR1c.318-16G=
c.300-16G=
c.11908-16G= (n.11908-16G=)
c.11893-16G= (n.11893-16G=)
c.11890-16G= (n.11890-16G=)
c.517-16G=
c.5277-16G=
c.11875-16G= (n.11875-16G=)
c.11905-16G= (n.11905-16G=)
19g.38543755G>TCA2584908137RYR1c.318-16G>T
c.300-16G>T
c.11908-16G>T (n.11908-16G>T)
c.11893-16G>T (n.11893-16G>T)
c.11890-16G>T (n.11890-16G>T)
c.517-16G>T
c.5277-16G>T
c.11875-16G>T (n.11875-16G>T)
c.11905-16G>T (n.11905-16G>T)
 gnomAD v4
19g.38543756C>ACA2584908138RYR1c.318-15C>A
c.300-15C>A
c.11908-15C>A (n.11908-15C>A)
c.11893-15C>A (n.11893-15C>A)
c.11890-15C>A (n.11890-15C>A)
c.517-15C>A
c.5277-15C>A
c.11875-15C>A (n.11875-15C>A)
c.11905-15C>A (n.11905-15C>A)
 gnomAD v4
19g.38543756C=CA2335074514RYR1c.318-15C=
c.300-15C=
c.11908-15C= (n.11908-15C=)
c.11893-15C= (n.11893-15C=)
c.11890-15C= (n.11890-15C=)
c.517-15C=
c.5277-15C=
c.11875-15C= (n.11875-15C=)
c.11905-15C= (n.11905-15C=)
19g.38543756C>TCA632869736RYR1c.318-15C>T
c.300-15C>T
c.11908-15C>T (n.11908-15C>T)
c.11893-15C>T (n.11893-15C>T)
c.11890-15C>T (n.11890-15C>T)
c.517-15C>T
c.5277-15C>T
c.11875-15C>T (n.11875-15C>T)
c.11905-15C>T (n.11905-15C>T)
 dbSNP gnomAD v2 gnomAD v4
19g.38543757A=CA2335074515RYR1c.318-14A=
c.300-14A=
c.11908-14A= (n.11908-14A=)
c.11893-14A= (n.11893-14A=)
c.11890-14A= (n.11890-14A=)
c.517-14A=
c.5277-14A=
c.11875-14A= (n.11875-14A=)
c.11905-14A= (n.11905-14A=)
19g.38543757A>CCA2581382552RYR1c.318-14A>C
c.300-14A>C
c.11908-14A>C (n.11908-14A>C)
c.11893-14A>C (n.11893-14A>C)
c.11890-14A>C (n.11890-14A>C)
c.517-14A>C
c.5277-14A>C
c.11875-14A>C (n.11875-14A>C)
c.11905-14A>C (n.11905-14A>C)
19g.38543757A>GCA023941RYR1c.318-14A>G
c.300-14A>G
c.11908-14A>G (n.11908-14A>G)
c.11893-14A>G (n.11893-14A>G)
c.11890-14A>G (n.11890-14A>G)
c.517-14A>G
c.5277-14A>G
c.11875-14A>G (n.11875-14A>G)
c.11905-14A>G (n.11905-14A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38543757A>TCA2581382553RYR1c.318-14A>T
c.300-14A>T
c.11908-14A>T (n.11908-14A>T)
c.11893-14A>T (n.11893-14A>T)
c.11890-14A>T (n.11890-14A>T)
c.517-14A>T
c.5277-14A>T
c.11875-14A>T (n.11875-14A>T)
c.11905-14A>T (n.11905-14A>T)
19g.38543758C>TCA2584908139RYR1c.318-13C>T
c.300-13C>T
c.11908-13C>T (n.11908-13C>T)
c.11893-13C>T (n.11893-13C>T)
c.11890-13C>T (n.11890-13C>T)
c.517-13C>T
c.5277-13C>T
c.11875-13C>T (n.11875-13C>T)
c.11905-13C>T (n.11905-13C>T)
 gnomAD v4
19g.38543760C=CA2335074516RYR1c.318-11C=
c.300-11C=
c.11908-11C= (n.11908-11C=)
c.11893-11C= (n.11893-11C=)
c.11890-11C= (n.11890-11C=)
c.517-11C=
c.5277-11C=
c.11875-11C= (n.11875-11C=)
c.11905-11C= (n.11905-11C=)
19g.38543760C>GCA080510RYR1c.318-11C>G
c.300-11C>G
c.11908-11C>G (n.11908-11C>G)
c.11893-11C>G (n.11893-11C>G)
c.11890-11C>G (n.11890-11C>G)
c.517-11C>G
c.5277-11C>G
c.11875-11C>G (n.11875-11C>G)
c.11905-11C>G (n.11905-11C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38543760C>TCA632869738RYR1c.318-11C>T
c.300-11C>T
c.11908-11C>T (n.11908-11C>T)
c.11893-11C>T (n.11893-11C>T)
c.11890-11C>T (n.11890-11C>T)
c.517-11C>T
c.5277-11C>T
c.11875-11C>T (n.11875-11C>T)
c.11905-11C>T (n.11905-11C>T)
 dbSNP gnomAD v2
19g.38543761T>CCA2584908140RYR1c.318-10T>C
c.300-10T>C
c.11908-10T>C (n.11908-10T>C)
c.11893-10T>C (n.11893-10T>C)
c.11890-10T>C (n.11890-10T>C)
c.517-10T>C
c.5277-10T>C
c.11875-10T>C (n.11875-10T>C)
c.11905-10T>C (n.11905-10T>C)
 gnomAD v4
19g.38543763C>GCA080508RYR1c.318-8C>G
c.300-8C>G
c.11908-8C>G (n.11908-8C>G)
c.11893-8C>G (n.11893-8C>G)
c.11890-8C>G (n.11890-8C>G)
c.517-8C>G
c.5277-8C>G
c.11875-8C>G (n.11875-8C>G)
c.11905-8C>G (n.11905-8C>G)
19g.38543763C>TCA645609842RYR1c.318-8C>T
c.300-8C>T
c.11908-8C>T (n.11908-8C>T)
c.11893-8C>T (n.11893-8C>T)
c.11890-8C>T (n.11890-8C>T)
c.517-8C>T
c.5277-8C>T
c.11875-8C>T (n.11875-8C>T)
c.11905-8C>T (n.11905-8C>T)
 COSMIC
19g.38543764C=CA2335074517RYR1c.318-7C=
c.300-7C=
c.11908-7C= (n.11908-7C=)
c.11893-7C= (n.11893-7C=)
c.11890-7C= (n.11890-7C=)
c.517-7C=
c.5277-7C=
c.11875-7C= (n.11875-7C=)
c.11905-7C= (n.11905-7C=)
19g.38543764C>TCA632869739RYR1c.318-7C>T
c.300-7C>T
c.11908-7C>T (n.11908-7C>T)
c.11893-7C>T (n.11893-7C>T)
c.11890-7C>T (n.11890-7C>T)
c.517-7C>T
c.5277-7C>T
c.11875-7C>T (n.11875-7C>T)
c.11905-7C>T (n.11905-7C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38543765T>CCA2584908141RYR1c.318-6T>C
c.300-6T>C
c.11908-6T>C (n.11908-6T>C)
c.11893-6T>C (n.11893-6T>C)
c.11890-6T>C (n.11890-6T>C)
c.517-6T>C
c.5277-6T>C
c.11875-6T>C (n.11875-6T>C)
c.11905-6T>C (n.11905-6T>C)
 gnomAD v4
19g.38543766C>TCA2584908142RYR1c.318-5C>T
c.300-5C>T
c.11908-5C>T (n.11908-5C>T)
c.11893-5C>T (n.11893-5C>T)
c.11890-5C>T (n.11890-5C>T)
c.517-5C>T
c.5277-5C>T
c.11875-5C>T (n.11875-5C>T)
c.11905-5C>T (n.11905-5C>T)
 gnomAD v4
19g.38543767C=CA2335074518RYR1c.318-4C=
c.300-4C=
c.11908-4C= (n.11908-4C=)
c.11893-4C= (n.11893-4C=)
c.11890-4C= (n.11890-4C=)
c.517-4C=
c.5277-4C=
c.11875-4C= (n.11875-4C=)
c.11905-4C= (n.11905-4C=)
19g.38543767C>GCA632869740RYR1c.318-4C>G
c.300-4C>G
c.11908-4C>G (n.11908-4C>G)
c.11893-4C>G (n.11893-4C>G)
c.11890-4C>G (n.11890-4C>G)
c.517-4C>G
c.5277-4C>G
c.11875-4C>G (n.11875-4C>G)
c.11905-4C>G (n.11905-4C>G)
 dbSNP gnomAD v2 gnomAD v4
19g.38543768C=CA2335074519RYR1c.318-3C=
c.300-3C=
c.11908-3C= (n.11908-3C=)
c.11893-3C= (n.11893-3C=)
c.11890-3C= (n.11890-3C=)
c.517-3C=
c.5277-3C=
c.11875-3C= (n.11875-3C=)
c.11905-3C= (n.11905-3C=)
19g.38543768C>GCA057911RYR1c.318-3C>G
c.300-3C>G
c.11908-3C>G (n.11908-3C>G)
c.11893-3C>G (n.11893-3C>G)
c.11890-3C>G (n.11890-3C>G)
c.517-3C>G
c.5277-3C>G
c.11875-3C>G (n.11875-3C>G)
c.11905-3C>G (n.11905-3C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38543768C>TCA882060829RYR1c.318-3C>T
c.300-3C>T
c.11908-3C>T (n.11908-3C>T)
c.11893-3C>T (n.11893-3C>T)
c.11890-3C>T (n.11890-3C>T)
c.517-3C>T
c.5277-3C>T
c.11875-3C>T (n.11875-3C>T)
c.11905-3C>T (n.11905-3C>T)
 dbSNP gnomAD v3 gnomAD v4
19g.38543769A=CA2335074520RYR1c.318-2A=
c.300-2A=
c.11908-2A= (n.11908-2A=)
c.11893-2A= (n.11893-2A=)
c.11890-2A= (n.11890-2A=)
c.517-2A=
c.5277-2A=
c.11875-2A= (n.11875-2A=)
c.11905-2A= (n.11905-2A=)
19g.38543769A>CCA405662640RYR1c.318-2A>C
c.300-2A>C
c.11908-2A>C (n.11908-2A>C)
c.11893-2A>C (n.11893-2A>C)
c.11890-2A>C (n.11890-2A>C)
c.517-2A>C
c.5277-2A>C
c.11875-2A>C (n.11875-2A>C)
c.11905-2A>C (n.11905-2A>C)
 gnomAD v4
19g.38543769A>GCA057897RYR1c.318-2A>G
c.300-2A>G
c.11908-2A>G (n.11908-2A>G)
c.11893-2A>G (n.11893-2A>G)
c.11890-2A>G (n.11890-2A>G)
c.517-2A>G
c.5277-2A>G
c.11875-2A>G (n.11875-2A>G)
c.11905-2A>G (n.11905-2A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38543769A>TCA16609000RYR1c.318-2A>T
c.300-2A>T
c.11908-2A>T (n.11908-2A>T)
c.11893-2A>T (n.11893-2A>T)
c.11890-2A>T (n.11890-2A>T)
c.517-2A>T
c.5277-2A>T
c.11875-2A>T (n.11875-2A>T)
c.11905-2A>T (n.11905-2A>T)
 ClinVar dbSNP
19g.38543770G>ACA057840RYR1c.318-1G>A
c.300-1G>A
c.11908-1G>A (n.11908-1G>A)
c.11893-1G>A (n.11893-1G>A)
c.11890-1G>A (n.11890-1G>A)
c.517-1G>A
c.5277-1G>A
c.11875-1G>A (n.11875-1G>A)
c.11905-1G>A (n.11905-1G>A)
 dbSNP ExAC
19g.38543770G>CCA405662649RYR1c.318-1G>C
c.300-1G>C
c.11908-1G>C (n.11908-1G>C)
c.11893-1G>C (n.11893-1G>C)
c.11890-1G>C (n.11890-1G>C)
c.517-1G>C
c.5277-1G>C
c.11875-1G>C (n.11875-1G>C)
c.11905-1G>C (n.11905-1G>C)
 gnomAD v4
19g.38543770G=CA2335074521RYR1c.318-1G=
c.300-1G=
c.11908-1G= (n.11908-1G=)
c.11893-1G= (n.11893-1G=)
c.11890-1G= (n.11890-1G=)
c.517-1G=
c.5277-1G=
c.11875-1G= (n.11875-1G=)
c.11905-1G= (n.11905-1G=)
19g.38543770G>TCA405662652RYR1c.318-1G>T
c.300-1G>T
c.11908-1G>T (n.11908-1G>T)
c.11893-1G>T (n.11893-1G>T)
c.11890-1G>T (n.11890-1G>T)
c.517-1G>T
c.5277-1G>T
c.11875-1G>T (n.11875-1G>T)
c.11905-1G>T (n.11905-1G>T)
19g.38543771G>ACA405662660RYR1c.318G>A
c.300G>A
c.11908G>A (p.Gly3970Ser)
c.11893G>A (p.Gly3965Ser)
c.11890G>A (p.Gly3964Ser)
c.517G>A
c.5277G>A
c.11875G>A (p.Gly3959Ser)
c.11905G>A (p.Gly3969Ser)
19g.38543771G>CCA405662662RYR1c.318G>C
c.300G>C
c.11908G>C (p.Gly3970Arg)
c.11893G>C (p.Gly3965Arg)
c.11890G>C (p.Gly3964Arg)
c.517G>C
c.5277G>C
c.11875G>C (p.Gly3959Arg)
c.11905G>C (p.Gly3969Arg)
 gnomAD v4
19g.38543771G>TCA405662664RYR1c.318G>T
c.300G>T
c.11908G>T (p.Gly3970Cys)
c.11893G>T (p.Gly3965Cys)
c.11890G>T (p.Gly3964Cys)
c.517G>T
c.5277G>T
c.11875G>T (p.Gly3959Cys)
c.11905G>T (p.Gly3969Cys)
19g.38543772G>ACA405662677RYR1c.319G>A
c.301G>A
c.11909G>A (p.Gly3970Asp)
c.11894G>A (p.Gly3965Asp)
c.11891G>A (p.Gly3964Asp)
c.518G>A
c.5278G>A
c.11876G>A (p.Gly3959Asp)
c.11906G>A (p.Gly3969Asp)
 gnomAD v4
19g.38543772G>CCA405662680RYR1c.319G>C
c.301G>C
c.11909G>C (p.Gly3970Ala)
c.11894G>C (p.Gly3965Ala)
c.11891G>C (p.Gly3964Ala)
c.518G>C
c.5278G>C
c.11876G>C (p.Gly3959Ala)
c.11906G>C (p.Gly3969Ala)
19g.38543772G>TCA405662683RYR1c.319G>T
c.301G>T
c.11909G>T (p.Gly3970Val)
c.11894G>T (p.Gly3965Val)
c.11891G>T (p.Gly3964Val)
c.518G>T
c.5278G>T
c.11876G>T (p.Gly3959Val)
c.11906G>T (p.Gly3969Val)
19g.38543773T>ACA507242568RYR1c.320T>A
c.302T>A
c.11910T>A (p.Gly3970=)
c.11895T>A (p.Gly3965=)
c.11892T>A (p.Gly3964=)
c.519T>A
c.5279T>A
c.11877T>A (p.Gly3959=)
c.11907T>A (p.Gly3969=)
 gnomAD v4
19g.38543773T>CCA507242569RYR1c.320T>C
c.302T>C
c.11910T>C (p.Gly3970=)
c.11895T>C (p.Gly3965=)
c.11892T>C (p.Gly3964=)
c.519T>C
c.5279T>C
c.11877T>C (p.Gly3959=)
c.11907T>C (p.Gly3969=)
19g.38543773T>GCA507242571RYR1c.320T>G
c.302T>G
c.11910T>G (p.Gly3970=)
c.11895T>G (p.Gly3965=)
c.11892T>G (p.Gly3964=)
c.519T>G
c.5279T>G
c.11877T>G (p.Gly3959=)
c.11907T>G (p.Gly3969=)
19g.38543774C>ACA405662687RYR1c.321C>A
c.303C>A
c.11911C>A (p.Pro3971Thr)
c.11896C>A (p.Pro3966Thr)
c.11893C>A (p.Pro3965Thr)
c.520C>A
c.5280C>A
c.11878C>A (p.Pro3960Thr)
c.11908C>A (p.Pro3970Thr)
 gnomAD v4
19g.38543774C>GCA405662695RYR1c.321C>G
c.303C>G
c.11911C>G (p.Pro3971Ala)
c.11896C>G (p.Pro3966Ala)
c.11893C>G (p.Pro3965Ala)
c.520C>G
c.5280C>G
c.11878C>G (p.Pro3960Ala)
c.11908C>G (p.Pro3970Ala)
19g.38543774C>TCA405662697RYR1c.321C>T
c.303C>T
c.11911C>T (p.Pro3971Ser)
c.11896C>T (p.Pro3966Ser)
c.11893C>T (p.Pro3965Ser)
c.520C>T
c.5280C>T
c.11878C>T (p.Pro3960Ser)
c.11908C>T (p.Pro3970Ser)
 gnomAD v4
19g.38543775C>ACA405662702RYR1c.322C>A
c.304C>A
c.11912C>A (p.Pro3971His)
c.11897C>A (p.Pro3966His)
c.11894C>A (p.Pro3965His)
c.521C>A
c.5281C>A
c.11879C>A (p.Pro3960His)
c.11909C>A (p.Pro3970His)
 gnomAD v4
19g.38543775C>GCA405662703RYR1c.322C>G
c.304C>G
c.11912C>G (p.Pro3971Arg)
c.11897C>G (p.Pro3966Arg)
c.11894C>G (p.Pro3965Arg)
c.521C>G
c.5281C>G
c.11879C>G (p.Pro3960Arg)
c.11909C>G (p.Pro3970Arg)
19g.38543775C>TCA405662701RYR1c.322C>T
c.304C>T
c.11912C>T (p.Pro3971Leu)
c.11897C>T (p.Pro3966Leu)
c.11894C>T (p.Pro3965Leu)
c.521C>T
c.5281C>T
c.11879C>T (p.Pro3960Leu)
c.11909C>T (p.Pro3970Leu)
19g.38543776C>ACA507242573RYR1c.323C>A
c.305C>A
c.11913C>A (p.Pro3971=)
c.11898C>A (p.Pro3966=)
c.11895C>A (p.Pro3965=)
c.522C>A
c.5282C>A
c.11880C>A (p.Pro3960=)
c.11910C>A (p.Pro3970=)
19g.38543776C>GCA507242574RYR1c.323C>G
c.305C>G
c.11913C>G (p.Pro3971=)
c.11898C>G (p.Pro3966=)
c.11895C>G (p.Pro3965=)
c.522C>G
c.5282C>G
c.11880C>G (p.Pro3960=)
c.11910C>G (p.Pro3970=)
 ClinVar
19g.38543776C>TCA507242576RYR1c.323C>T
c.305C>T
c.11913C>T (p.Pro3971=)
c.11898C>T (p.Pro3966=)
c.11895C>T (p.Pro3965=)
c.522C>T
c.5282C>T
c.11880C>T (p.Pro3960=)
c.11910C>T (p.Pro3970=)
19g.38543777T>ACA405662708RYR1c.324T>A
c.306T>A
c.11914T>A (p.Cys3972Ser)
c.11899T>A (p.Cys3967Ser)
c.11896T>A (p.Cys3966Ser)
c.523T>A
c.5283T>A
c.11881T>A (p.Cys3961Ser)
c.11911T>A (p.Cys3971Ser)
19g.38543777T>CCA405662706RYR1c.324T>C
c.306T>C
c.11914T>C (p.Cys3972Arg)
c.11899T>C (p.Cys3967Arg)
c.11896T>C (p.Cys3966Arg)
c.523T>C
c.5283T>C
c.11881T>C (p.Cys3961Arg)
c.11911T>C (p.Cys3971Arg)
19g.38543777T>GCA405662709RYR1c.324T>G
c.306T>G
c.11914T>G (p.Cys3972Gly)
c.11899T>G (p.Cys3967Gly)
c.11896T>G (p.Cys3966Gly)
c.523T>G
c.5283T>G
c.11881T>G (p.Cys3961Gly)
c.11911T>G (p.Cys3971Gly)
19g.38543778G>ACA405662710RYR1c.325G>A
c.307G>A
c.11915G>A (p.Cys3972Tyr)
c.11900G>A (p.Cys3967Tyr)
c.11897G>A (p.Cys3966Tyr)
c.524G>A
c.5284G>A
c.11882G>A (p.Cys3961Tyr)
c.11912G>A (p.Cys3971Tyr)
19g.38543778G>CCA405662711RYR1c.325G>C
c.307G>C
c.11915G>C (p.Cys3972Ser)
c.11900G>C (p.Cys3967Ser)
c.11897G>C (p.Cys3966Ser)
c.524G>C
c.5284G>C
c.11882G>C (p.Cys3961Ser)
c.11912G>C (p.Cys3971Ser)
19g.38543778G>TCA405662712RYR1c.325G>T
c.307G>T
c.11915G>T (p.Cys3972Phe)
c.11900G>T (p.Cys3967Phe)
c.11897G>T (p.Cys3966Phe)
c.524G>T
c.5284G>T
c.11882G>T (p.Cys3961Phe)
c.11912G>T (p.Cys3971Phe)
19g.38543779C>ACA405662713RYR1c.326C>A
c.308C>A
c.11916C>A (p.Cys3972Ter)
c.11901C>A (p.Cys3967Ter)
c.11898C>A (p.Cys3966Ter)
c.525C>A
c.5285C>A
c.11883C>A (p.Cys3961Ter)
c.11913C>A (p.Cys3971Ter)
19g.38543779C>GCA405662715RYR1c.326C>G
c.308C>G
c.11916C>G (p.Cys3972Trp)
c.11901C>G (p.Cys3967Trp)
c.11898C>G (p.Cys3966Trp)
c.525C>G
c.5285C>G
c.11883C>G (p.Cys3961Trp)
c.11913C>G (p.Cys3971Trp)
19g.38543779C>TCA507242580RYR1c.326C>T
c.308C>T
c.11916C>T (p.Cys3972=)
c.11901C>T (p.Cys3967=)
c.11898C>T (p.Cys3966=)
c.525C>T
c.5285C>T
c.11883C>T (p.Cys3961=)
c.11913C>T (p.Cys3971=)
 gnomAD v4
19g.38543780A>CCA405662717RYR1c.327A>C
c.309A>C
c.11917A>C (p.Thr3973Pro)
c.11902A>C (p.Thr3968Pro)
c.11899A>C (p.Thr3967Pro)
c.526A>C
c.5286A>C
c.11884A>C (p.Thr3962Pro)
c.11914A>C (p.Thr3972Pro)
19g.38543780A>GCA405662719RYR1c.327A>G
c.309A>G
c.11917A>G (p.Thr3973Ala)
c.11902A>G (p.Thr3968Ala)
c.11899A>G (p.Thr3967Ala)
c.526A>G
c.5286A>G
c.11884A>G (p.Thr3962Ala)
c.11914A>G (p.Thr3972Ala)
19g.38543780A>TCA405662722RYR1c.327A>T
c.309A>T
c.11917A>T (p.Thr3973Ser)
c.11902A>T (p.Thr3968Ser)
c.11899A>T (p.Thr3967Ser)
c.526A>T
c.5286A>T
c.11884A>T (p.Thr3962Ser)
c.11914A>T (p.Thr3972Ser)
19g.38543781C>ACA405662724RYR1c.328C>A
c.310C>A
c.11918C>A (p.Thr3973Asn)
c.11903C>A (p.Thr3968Asn)
c.11900C>A (p.Thr3967Asn)
c.527C>A
c.5287C>A
c.11885C>A (p.Thr3962Asn)
c.11915C>A (p.Thr3972Asn)
19g.38543781C>GCA405662725RYR1c.328C>G
c.310C>G
c.11918C>G (p.Thr3973Ser)
c.11903C>G (p.Thr3968Ser)
c.11900C>G (p.Thr3967Ser)
c.527C>G
c.5287C>G
c.11885C>G (p.Thr3962Ser)
c.11915C>G (p.Thr3972Ser)
19g.38543781C>TCA405662727RYR1c.328C>T
c.310C>T
c.11918C>T (p.Thr3973Ile)
c.11903C>T (p.Thr3968Ile)
c.11900C>T (p.Thr3967Ile)
c.527C>T
c.5287C>T
c.11885C>T (p.Thr3962Ile)
c.11915C>T (p.Thr3972Ile)
 gnomAD v4
19g.38543782C>ACA507242584RYR1c.329C>A
c.311C>A
c.11919C>A (p.Thr3973=)
c.11904C>A (p.Thr3968=)
c.11901C>A (p.Thr3967=)
c.528C>A
c.5288C>A
c.11886C>A (p.Thr3962=)
c.11916C>A (p.Thr3972=)
19g.38543782C=CA2335074522RYR1c.329C=
c.311C=
c.11919C= (p.Thr3973=)
c.11904C= (p.Thr3968=)
c.11901C= (p.Thr3967=)
c.528C=
c.5288C=
c.11886C= (p.Thr3962=)
c.11916C= (p.Thr3972=)
19g.38543782C>GCA507242585RYR1c.329C>G
c.311C>G
c.11919C>G (p.Thr3973=)
c.11904C>G (p.Thr3968=)
c.11901C>G (p.Thr3967=)
c.528C>G
c.5288C>G
c.11886C>G (p.Thr3962=)
c.11916C>G (p.Thr3972=)
19g.38543782C>TCA507242586RYR1c.329C>T
c.311C>T
c.11919C>T (p.Thr3973=)
c.11904C>T (p.Thr3968=)
c.11901C>T (p.Thr3967=)
c.528C>T
c.5288C>T
c.11886C>T (p.Thr3962=)
c.11916C>T (p.Thr3972=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38543783G>ACA057918RYR1c.330G>A
c.312G>A
c.11920G>A (p.Gly3974Arg)
c.11905G>A (p.Gly3969Arg)
c.11902G>A (p.Gly3968Arg)
c.529G>A
c.5289G>A
c.11887G>A (p.Gly3963Arg)
c.11917G>A (p.Gly3973Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.38543783G>CCA405662733RYR1c.330G>C
c.312G>C
c.11920G>C (p.Gly3974Arg)
c.11905G>C (p.Gly3969Arg)
c.11902G>C (p.Gly3968Arg)
c.529G>C
c.5289G>C
c.11887G>C (p.Gly3963Arg)
c.11917G>C (p.Gly3973Arg)
 ClinVar dbSNP COSMIC
19g.38543783G=CA2335074523RYR1c.330G=
c.312G=
c.11920G= (p.Gly3974=)
c.11905G= (p.Gly3969=)
c.11902G= (p.Gly3968=)
c.529G=
c.5289G=
c.11887G= (p.Gly3963=)
c.11917G= (p.Gly3973=)
19g.38543783G>TCA405662732RYR1c.330G>T
c.312G>T
c.11920G>T (p.Gly3974Trp)
c.11905G>T (p.Gly3969Trp)
c.11902G>T (p.Gly3968Trp)
c.529G>T
c.5289G>T
c.11887G>T (p.Gly3963Trp)
c.11917G>T (p.Gly3973Trp)
19g.38543783_38543784delinsACCA080482RYR1c.330_331delinsAC
c.312_313delinsAC
c.11920_11921delinsAC (p.Gly3974Thr)
c.11905_11906delinsAC (p.Gly3969Thr)
c.11902_11903delinsAC (p.Gly3968Thr)
c.529_530delinsAC
c.5289_5290delinsAC
c.11887_11888delinsAC (p.Gly3963Thr)
c.11917_11918delinsAC (p.Gly3973Thr)
19g.38543784_38543785delCA913203385RYR1c.331_332del
c.313_314del
c.11921_11922del (p.Gly3974GlufsTer?)
c.11906_11907del (p.Gly3969GlufsTer?)
c.11903_11904del (p.Gly3968GlufsTer?)
c.530_531del
c.5290_5291del
c.11888_11889del (p.Gly3963GlufsTer?)
c.11918_11919del (p.Gly3973GlufsTer?)
19g.38543784G>ACA405662737RYR1c.331G>A
c.313G>A
c.11921G>A (p.Gly3974Glu)
c.11906G>A (p.Gly3969Glu)
c.11903G>A (p.Gly3968Glu)
c.530G>A
c.5290G>A
c.11888G>A (p.Gly3963Glu)
c.11918G>A (p.Gly3973Glu)
 COSMIC
19g.38543784G>CCA405662738RYR1c.331G>C
c.313G>C
c.11921G>C (p.Gly3974Ala)
c.11906G>C (p.Gly3969Ala)
c.11903G>C (p.Gly3968Ala)
c.530G>C
c.5290G>C
c.11888G>C (p.Gly3963Ala)
c.11918G>C (p.Gly3973Ala)
 dbSNP
19g.38543784G=CA2335074524RYR1c.331G=
c.313G=
c.11921G= (p.Gly3974=)
c.11906G= (p.Gly3969=)
c.11903G= (p.Gly3968=)
c.530G=
c.5290G=
c.11888G= (p.Gly3963=)
c.11918G= (p.Gly3973=)
19g.38543784G>TCA405662740RYR1c.331G>T
c.313G>T
c.11921G>T (p.Gly3974Val)
c.11906G>T (p.Gly3969Val)
c.11903G>T (p.Gly3968Val)
c.530G>T
c.5290G>T
c.11888G>T (p.Gly3963Val)
c.11918G>T (p.Gly3973Val)
19g.38543785G>ACA308092384RYR1c.332G>A
c.314G>A
c.11922G>A (p.Gly3974=)
c.11907G>A (p.Gly3969=)
c.11904G>A (p.Gly3968=)
c.531G>A
c.5291G>A
c.11889G>A (p.Gly3963=)
c.11919G>A (p.Gly3973=)
 dbSNP
19g.38543785G>CCA507242591RYR1c.332G>C
c.314G>C
c.11922G>C (p.Gly3974=)
c.11907G>C (p.Gly3969=)
c.11904G>C (p.Gly3968=)
c.531G>C
c.5291G>C
c.11889G>C (p.Gly3963=)
c.11919G>C (p.Gly3973=)
 ClinVar dbSNP COSMIC
19g.38543785G=CA2335074525RYR1c.332G=
c.314G=
c.11922G= (p.Gly3974=)
c.11907G= (p.Gly3969=)
c.11904G= (p.Gly3968=)
c.531G=
c.5291G=
c.11889G= (p.Gly3963=)
c.11919G= (p.Gly3973=)
19g.38543785G>TCA308092388RYR1c.332G>T
c.314G>T
c.11922G>T (p.Gly3974=)
c.11907G>T (p.Gly3969=)
c.11904G>T (p.Gly3968=)
c.531G>T
c.5291G>T
c.11889G>T (p.Gly3963=)
c.11919G>T (p.Gly3973=)
 dbSNP gnomAD v4
19g.38543786A>CCA405662744RYR1c.333A>C
c.315A>C
c.11923A>C (p.Asn3975His)
c.11908A>C (p.Asn3970His)
c.11905A>C (p.Asn3969His)
c.532A>C
c.5292A>C
c.11890A>C (p.Asn3964His)
c.11920A>C (p.Asn3974His)
 COSMIC
19g.38543786A>GCA405662746RYR1c.333A>G
c.315A>G
c.11923A>G (p.Asn3975Asp)
c.11908A>G (p.Asn3970Asp)
c.11905A>G (p.Asn3969Asp)
c.532A>G
c.5292A>G
c.11890A>G (p.Asn3964Asp)
c.11920A>G (p.Asn3974Asp)
19g.38543786A>TCA405662748RYR1c.333A>T
c.315A>T
c.11923A>T (p.Asn3975Tyr)
c.11908A>T (p.Asn3970Tyr)
c.11905A>T (p.Asn3969Tyr)
c.532A>T
c.5292A>T
c.11890A>T (p.Asn3964Tyr)
c.11920A>T (p.Asn3974Tyr)
19g.38543787A=CA2335074526RYR1c.334A=
c.316A=
c.11924A= (p.Asn3975=)
c.11909A= (p.Asn3970=)
c.11906A= (p.Asn3969=)
c.533A=
c.5293A=
c.11891A= (p.Asn3964=)
c.11921A= (p.Asn3974=)
19g.38543787A>CCA405662749RYR1c.334A>C
c.316A>C
c.11924A>C (p.Asn3975Thr)
c.11909A>C (p.Asn3970Thr)
c.11906A>C (p.Asn3969Thr)
c.533A>C
c.5293A>C
c.11891A>C (p.Asn3964Thr)
c.11921A>C (p.Asn3974Thr)
19g.38543787A>GCA405662751RYR1c.334A>G
c.316A>G
c.11924A>G (p.Asn3975Ser)
c.11909A>G (p.Asn3970Ser)
c.11906A>G (p.Asn3969Ser)
c.533A>G
c.5293A>G
c.11891A>G (p.Asn3964Ser)
c.11921A>G (p.Asn3974Ser)
 dbSNP gnomAD v2 gnomAD v4
19g.38543787A>TCA405662752RYR1c.334A>T
c.316A>T
c.11924A>T (p.Asn3975Ile)
c.11909A>T (p.Asn3970Ile)
c.11906A>T (p.Asn3969Ile)
c.533A>T
c.5293A>T
c.11891A>T (p.Asn3964Ile)
c.11921A>T (p.Asn3974Ile)
19g.38543788C>ACA405662753RYR1c.335C>A
c.317C>A
c.11925C>A (p.Asn3975Lys)
c.11910C>A (p.Asn3970Lys)
c.11907C>A (p.Asn3969Lys)
c.534C>A
c.5294C>A
c.11892C>A (p.Asn3964Lys)
c.11922C>A (p.Asn3974Lys)
19g.38543788C>GCA405662754RYR1c.335C>G
c.317C>G
c.11925C>G (p.Asn3975Lys)
c.11910C>G (p.Asn3970Lys)
c.11907C>G (p.Asn3969Lys)
c.534C>G
c.5294C>G
c.11892C>G (p.Asn3964Lys)
c.11922C>G (p.Asn3974Lys)
 COSMIC
19g.38543788C>TCA080489RYR1c.335C>T
c.317C>T
c.11925C>T (p.Asn3975=)
c.11910C>T (p.Asn3970=)
c.11907C>T (p.Asn3969=)
c.534C>T
c.5294C>T
c.11892C>T (p.Asn3964=)
c.11922C>T (p.Asn3974=)
19g.38543789C>ACA405662758RYR1c.336C>A
c.318C>A
c.11926C>A (p.Gln3976Lys)
c.11911C>A (p.Gln3971Lys)
c.11908C>A (p.Gln3970Lys)
c.535C>A
c.5295C>A
c.11893C>A (p.Gln3965Lys)
c.11923C>A (p.Gln3975Lys)
19g.38543789C>GCA405662757RYR1c.336C>G
c.318C>G
c.11926C>G (p.Gln3976Glu)
c.11911C>G (p.Gln3971Glu)
c.11908C>G (p.Gln3970Glu)
c.535C>G
c.5295C>G
c.11893C>G (p.Gln3965Glu)
c.11923C>G (p.Gln3975Glu)
 gnomAD v4
19g.38543789C>TCA405662756RYR1c.336C>T
c.318C>T
c.11926C>T (p.Gln3976Ter)
c.11911C>T (p.Gln3971Ter)
c.11908C>T (p.Gln3970Ter)
c.535C>T
c.5295C>T
c.11893C>T (p.Gln3965Ter)
c.11923C>T (p.Gln3975Ter)
19g.38543790A>CCA405662763RYR1c.337A>C
c.319A>C
c.11927A>C (p.Gln3976Pro)
c.11912A>C (p.Gln3971Pro)
c.11909A>C (p.Gln3970Pro)
c.536A>C
c.5296A>C
c.11894A>C (p.Gln3965Pro)
c.11924A>C (p.Gln3975Pro)
19g.38543790A>GCA405662760RYR1c.337A>G
c.319A>G
c.11927A>G (p.Gln3976Arg)
c.11912A>G (p.Gln3971Arg)
c.11909A>G (p.Gln3970Arg)
c.536A>G
c.5296A>G
c.11894A>G (p.Gln3965Arg)
c.11924A>G (p.Gln3975Arg)
19g.38543790A>TCA405662762RYR1c.337A>T
c.319A>T
c.11927A>T (p.Gln3976Leu)
c.11912A>T (p.Gln3971Leu)
c.11909A>T (p.Gln3970Leu)
c.536A>T
c.5296A>T
c.11894A>T (p.Gln3965Leu)
c.11924A>T (p.Gln3975Leu)
19g.38543791G>ACA507242601RYR1c.338G>A
c.320G>A
c.11928G>A (p.Gln3976=)
c.11913G>A (p.Gln3971=)
c.11910G>A (p.Gln3970=)
c.537G>A
c.5297G>A
c.11895G>A (p.Gln3965=)
c.11925G>A (p.Gln3975=)
19g.38543791G>CCA405662769RYR1c.338G>C
c.320G>C
c.11928G>C (p.Gln3976His)
c.11913G>C (p.Gln3971His)
c.11910G>C (p.Gln3970His)
c.537G>C
c.5297G>C
c.11895G>C (p.Gln3965His)
c.11925G>C (p.Gln3975His)
19g.38543791G>TCA405662771RYR1c.338G>T
c.320G>T
c.11928G>T (p.Gln3976His)
c.11913G>T (p.Gln3971His)
c.11910G>T (p.Gln3970His)
c.537G>T
c.5297G>T
c.11895G>T (p.Gln3965His)
c.11925G>T (p.Gln3975His)
19g.38543792C>ACA405662774RYR1c.339C>A
c.321C>A
c.11929C>A (p.Gln3977Lys)
c.11914C>A (p.Gln3972Lys)
c.11911C>A (p.Gln3971Lys)
c.538C>A
c.5298C>A
c.11896C>A (p.Gln3966Lys)
c.11926C>A (p.Gln3976Lys)
19g.38543792C=CA2335074527RYR1c.339C=
c.321C=
c.11929C= (p.Gln3977=)
c.11914C= (p.Gln3972=)
c.11911C= (p.Gln3971=)
c.538C=
c.5298C=
c.11896C= (p.Gln3966=)
c.11926C= (p.Gln3976=)
19g.38543792C>GCA405662775RYR1c.339C>G
c.321C>G
c.11929C>G (p.Gln3977Glu)
c.11914C>G (p.Gln3972Glu)
c.11911C>G (p.Gln3971Glu)
c.538C>G
c.5298C>G
c.11896C>G (p.Gln3966Glu)
c.11926C>G (p.Gln3976Glu)
 gnomAD v4
19g.38543792C>TCA405662776RYR1c.339C>T
c.321C>T
c.11929C>T (p.Gln3977Ter)
c.11914C>T (p.Gln3972Ter)
c.11911C>T (p.Gln3971Ter)
c.538C>T
c.5298C>T
c.11896C>T (p.Gln3966Ter)
c.11926C>T (p.Gln3976Ter)
 ClinVar dbSNP gnomAD v4
19g.38543793A>CCA405662777RYR1c.340A>C
c.322A>C
c.11930A>C (p.Gln3977Pro)
c.11915A>C (p.Gln3972Pro)
c.11912A>C (p.Gln3971Pro)
c.539A>C
c.5299A>C
c.11897A>C (p.Gln3966Pro)
c.11927A>C (p.Gln3976Pro)
19g.38543793A>GCA405662779RYR1c.340A>G
c.322A>G
c.11930A>G (p.Gln3977Arg)
c.11915A>G (p.Gln3972Arg)
c.11912A>G (p.Gln3971Arg)
c.539A>G
c.5299A>G
c.11897A>G (p.Gln3966Arg)
c.11927A>G (p.Gln3976Arg)
19g.38543793A>TCA405662780RYR1c.340A>T
c.322A>T
c.11930A>T (p.Gln3977Leu)
c.11915A>T (p.Gln3972Leu)
c.11912A>T (p.Gln3971Leu)
c.539A>T
c.5299A>T
c.11897A>T (p.Gln3966Leu)
c.11927A>T (p.Gln3976Leu)
19g.38543794G>ACA507242607RYR1c.341G>A
c.323G>A
c.11931G>A (p.Gln3977=)
c.11916G>A (p.Gln3972=)
c.11913G>A (p.Gln3971=)
c.540G>A
c.5300G>A
c.11898G>A (p.Gln3966=)
c.11928G>A (p.Gln3976=)
19g.38543794G>CCA405662781RYR1c.341G>C
c.323G>C
c.11931G>C (p.Gln3977His)
c.11916G>C (p.Gln3972His)
c.11913G>C (p.Gln3971His)
c.540G>C
c.5300G>C
c.11898G>C (p.Gln3966His)
c.11928G>C (p.Gln3976His)
19g.38543794G>TCA405662783RYR1c.341G>T
c.323G>T
c.11931G>T (p.Gln3977His)
c.11916G>T (p.Gln3972His)
c.11913G>T (p.Gln3971His)
c.540G>T
c.5300G>T
c.11898G>T (p.Gln3966His)
c.11928G>T (p.Gln3976His)
19g.38543795A=CA2335074528RYR1c.342A=
c.324A=
c.11932A= (p.Ser3978=)
c.11917A= (p.Ser3973=)
c.11914A= (p.Ser3972=)
c.541A=
c.5301A=
c.11899A= (p.Ser3967=)
c.11929A= (p.Ser3977=)
19g.38543795A>CCA405662787RYR1c.342A>C
c.324A>C
c.11932A>C (p.Ser3978Arg)
c.11917A>C (p.Ser3973Arg)
c.11914A>C (p.Ser3972Arg)
c.541A>C
c.5301A>C
c.11899A>C (p.Ser3967Arg)
c.11929A>C (p.Ser3977Arg)
19g.38543795A>GCA057930RYR1c.342A>G
c.324A>G
c.11932A>G (p.Ser3978Gly)
c.11917A>G (p.Ser3973Gly)
c.11914A>G (p.Ser3972Gly)
c.541A>G
c.5301A>G
c.11899A>G (p.Ser3967Gly)
c.11929A>G (p.Ser3977Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38543795A>TCA405662785RYR1c.342A>T
c.324A>T
c.11932A>T (p.Ser3978Cys)
c.11917A>T (p.Ser3973Cys)
c.11914A>T (p.Ser3972Cys)
c.541A>T
c.5301A>T
c.11899A>T (p.Ser3967Cys)
c.11929A>T (p.Ser3977Cys)
19g.38543796G>ACA405662790RYR1c.343G>A
c.325G>A
c.11933G>A (p.Ser3978Asn)
c.11918G>A (p.Ser3973Asn)
c.11915G>A (p.Ser3972Asn)
c.542G>A
c.5302G>A
c.11900G>A (p.Ser3967Asn)
c.11930G>A (p.Ser3977Asn)
 ClinVar dbSNP gnomAD v2
19g.38543796G>CCA405662792RYR1c.343G>C
c.325G>C
c.11933G>C (p.Ser3978Thr)
c.11918G>C (p.Ser3973Thr)
c.11915G>C (p.Ser3972Thr)
c.542G>C
c.5302G>C
c.11900G>C (p.Ser3967Thr)
c.11930G>C (p.Ser3977Thr)
 dbSNP gnomAD v3 gnomAD v4
19g.38543796G=CA2335074529RYR1c.343G=
c.325G=
c.11933G= (p.Ser3978=)
c.11918G= (p.Ser3973=)
c.11915G= (p.Ser3972=)
c.542G=
c.5302G=
c.11900G= (p.Ser3967=)
c.11930G= (p.Ser3977=)
19g.38543796G>TCA405662794RYR1c.343G>T
c.325G>T
c.11933G>T (p.Ser3978Ile)
c.11918G>T (p.Ser3973Ile)
c.11915G>T (p.Ser3972Ile)
c.542G>T
c.5302G>T
c.11900G>T (p.Ser3967Ile)
c.11930G>T (p.Ser3977Ile)
 gnomAD v4
19g.38543797C>ACA405662796RYR1c.344C>A
c.326C>A
c.11934C>A (p.Ser3978Arg)
c.11919C>A (p.Ser3973Arg)
c.11916C>A (p.Ser3972Arg)
c.543C>A
c.5303C>A
c.11901C>A (p.Ser3967Arg)
c.11931C>A (p.Ser3977Arg)
19g.38543797C=CA2335074530RYR1c.344C=
c.326C=
c.11934C= (p.Ser3978=)
c.11919C= (p.Ser3973=)
c.11916C= (p.Ser3972=)
c.543C=
c.5303C=
c.11901C= (p.Ser3967=)
c.11931C= (p.Ser3977=)
19g.38543797C>GCA405662798RYR1c.344C>G
c.326C>G
c.11934C>G (p.Ser3978Arg)
c.11919C>G (p.Ser3973Arg)
c.11916C>G (p.Ser3972Arg)
c.543C>G
c.5303C>G
c.11901C>G (p.Ser3967Arg)
c.11931C>G (p.Ser3977Arg)
19g.38543797C>TCA057937RYR1c.344C>T
c.326C>T
c.11934C>T (p.Ser3978=)
c.11919C>T (p.Ser3973=)
c.11916C>T (p.Ser3972=)
c.543C>T
c.5303C>T
c.11901C>T (p.Ser3967=)
c.11931C>T (p.Ser3977=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38543798C>ACA405662800RYR1c.345C>A
c.327C>A
c.11935C>A (p.Leu3979Met)
c.11920C>A (p.Leu3974Met)
c.11917C>A (p.Leu3973Met)
c.544C>A
c.5304C>A
c.11902C>A (p.Leu3968Met)
c.11932C>A (p.Leu3978Met)
19g.38543798C>GCA405662802RYR1c.345C>G
c.327C>G
c.11935C>G (p.Leu3979Val)
c.11920C>G (p.Leu3974Val)
c.11917C>G (p.Leu3973Val)
c.544C>G
c.5304C>G
c.11902C>G (p.Leu3968Val)
c.11932C>G (p.Leu3978Val)
19g.38543798C>TCA507242612RYR1c.345C>T
c.327C>T
c.11935C>T (p.Leu3979=)
c.11920C>T (p.Leu3974=)
c.11917C>T (p.Leu3973=)
c.544C>T
c.5304C>T
c.11902C>T (p.Leu3968=)
c.11932C>T (p.Leu3978=)
19g.38543799T>ACA405662804RYR1c.346T>A
c.328T>A
c.11936T>A (p.Leu3979Gln)
c.11921T>A (p.Leu3974Gln)
c.11918T>A (p.Leu3973Gln)
c.545T>A
c.5305T>A
c.11903T>A (p.Leu3968Gln)
c.11933T>A (p.Leu3978Gln)
19g.38543799T>CCA405662806RYR1c.346T>C
c.328T>C
c.11936T>C (p.Leu3979Pro)
c.11921T>C (p.Leu3974Pro)
c.11918T>C (p.Leu3973Pro)
c.545T>C
c.5305T>C
c.11903T>C (p.Leu3968Pro)
c.11933T>C (p.Leu3978Pro)
19g.38543799T>GCA405662808RYR1c.346T>G
c.328T>G
c.11936T>G (p.Leu3979Arg)
c.11921T>G (p.Leu3974Arg)
c.11918T>G (p.Leu3973Arg)
c.545T>G
c.5305T>G
c.11903T>G (p.Leu3968Arg)
c.11933T>G (p.Leu3978Arg)
19g.38543800G>ACA507242616RYR1c.347G>A
c.329G>A
c.11937G>A (p.Leu3979=)
c.11922G>A (p.Leu3974=)
c.11919G>A (p.Leu3973=)
c.546G>A
c.5306G>A
c.11904G>A (p.Leu3968=)
c.11934G>A (p.Leu3978=)
 gnomAD v4
19g.38543800G>CCA507242617RYR1c.347G>C
c.329G>C
c.11937G>C (p.Leu3979=)
c.11922G>C (p.Leu3974=)
c.11919G>C (p.Leu3973=)
c.546G>C
c.5306G>C
c.11904G>C (p.Leu3968=)
c.11934G>C (p.Leu3978=)
19g.38543800G>TCA507242618RYR1c.347G>T
c.329G>T
c.11937G>T (p.Leu3979=)
c.11922G>T (p.Leu3974=)
c.11919G>T (p.Leu3973=)
c.546G>T
c.5306G>T
c.11904G>T (p.Leu3968=)
c.11934G>T (p.Leu3978=)
19g.38543801G>ACA405662810RYR1c.348G>A
c.330G>A
c.11938G>A (p.Ala3980Thr)
c.11923G>A (p.Ala3975Thr)
c.11920G>A (p.Ala3974Thr)
c.547G>A
c.5307G>A
c.11905G>A (p.Ala3969Thr)
c.11935G>A (p.Ala3979Thr)
19g.38543801G>CCA405662812RYR1c.348G>C
c.330G>C
c.11938G>C (p.Ala3980Pro)
c.11923G>C (p.Ala3975Pro)
c.11920G>C (p.Ala3974Pro)
c.547G>C
c.5307G>C
c.11905G>C (p.Ala3969Pro)
c.11935G>C (p.Ala3979Pro)
19g.38543801G>TCA405662814RYR1c.348G>T
c.330G>T
c.11938G>T (p.Ala3980Ser)
c.11923G>T (p.Ala3975Ser)
c.11920G>T (p.Ala3974Ser)
c.547G>T
c.5307G>T
c.11905G>T (p.Ala3969Ser)
c.11935G>T (p.Ala3979Ser)
 COSMIC
19g.38543802C>ACA405662817RYR1c.349C>A
c.331C>A
c.11939C>A (p.Ala3980Glu)
c.11924C>A (p.Ala3975Glu)
c.11921C>A (p.Ala3974Glu)
c.548C>A
c.5308C>A
c.11906C>A (p.Ala3969Glu)
c.11936C>A (p.Ala3979Glu)
19g.38543802C>GCA405662819RYR1c.349C>G
c.331C>G
c.11939C>G (p.Ala3980Gly)
c.11924C>G (p.Ala3975Gly)
c.11921C>G (p.Ala3974Gly)
c.548C>G
c.5308C>G
c.11906C>G (p.Ala3969Gly)
c.11936C>G (p.Ala3979Gly)
 gnomAD v4
19g.38543802C>TCA405662816RYR1c.349C>T
c.331C>T
c.11939C>T (p.Ala3980Val)
c.11924C>T (p.Ala3975Val)
c.11921C>T (p.Ala3974Val)
c.548C>T
c.5308C>T
c.11906C>T (p.Ala3969Val)
c.11936C>T (p.Ala3979Val)
 COSMIC
19g.38543803G>ACA308092402RYR1c.350G>A
c.332G>A
c.11940G>A (p.Ala3980=)
c.11925G>A (p.Ala3975=)
c.11922G>A (p.Ala3974=)
c.549G>A
c.5309G>A
c.11907G>A (p.Ala3969=)
c.11937G>A (p.Ala3979=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38543803G>CCA507242622RYR1c.350G>C
c.332G>C
c.11940G>C (p.Ala3980=)
c.11925G>C (p.Ala3975=)
c.11922G>C (p.Ala3974=)
c.549G>C
c.5309G>C
c.11907G>C (p.Ala3969=)
c.11937G>C (p.Ala3979=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38543803G=CA2335074531RYR1c.350G=
c.332G=
c.11940G= (p.Ala3980=)
c.11925G= (p.Ala3975=)
c.11922G= (p.Ala3974=)
c.549G=
c.5309G=
c.11907G= (p.Ala3969=)
c.11937G= (p.Ala3979=)
19g.38543803G>TCA057939RYR1c.350G>T
c.332G>T
c.11940G>T (p.Ala3980=)
c.11925G>T (p.Ala3975=)
c.11922G>T (p.Ala3974=)
c.549G>T
c.5309G>T
c.11907G>T (p.Ala3969=)
c.11937G>T (p.Ala3979=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38543804C>ACA405662822RYR1c.351C>A
c.333C>A
c.11941C>A (p.His3981Asn)
c.11926C>A (p.His3976Asn)
c.11923C>A (p.His3975Asn)
c.550C>A
c.5310C>A
c.11908C>A (p.His3970Asn)
c.11938C>A (p.His3980Asn)
 dbSNP
19g.38543804C=CA2335074532RYR1c.351C=
c.333C=
c.11941C= (p.His3981=)
c.11926C= (p.His3976=)
c.11923C= (p.His3975=)
c.550C=
c.5310C=
c.11908C= (p.His3970=)
c.11938C= (p.His3980=)
19g.38543804C>GCA405662825RYR1c.351C>G
c.333C>G
c.11941C>G (p.His3981Asp)
c.11926C>G (p.His3976Asp)
c.11923C>G (p.His3975Asp)
c.550C>G
c.5310C>G
c.11908C>G (p.His3970Asp)
c.11938C>G (p.His3980Asp)
19g.38543804C>TCA023947RYR1c.351C>T
c.333C>T
c.11941C>T (p.His3981Tyr)
c.11926C>T (p.His3976Tyr)
c.11923C>T (p.His3975Tyr)
c.550C>T
c.5310C>T
c.11908C>T (p.His3970Tyr)
c.11938C>T (p.His3980Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38543805A>CCA405662827RYR1c.352A>C
c.334A>C
c.11942A>C (p.His3981Pro)
c.11927A>C (p.His3976Pro)
c.11924A>C (p.His3975Pro)
c.551A>C
c.5311A>C
c.11909A>C (p.His3970Pro)
c.11939A>C (p.His3980Pro)
19g.38543805A>GCA405662828RYR1c.352A>G
c.334A>G
c.11942A>G (p.His3981Arg)
c.11927A>G (p.His3976Arg)
c.11924A>G (p.His3975Arg)
c.551A>G
c.5311A>G
c.11909A>G (p.His3970Arg)
c.11939A>G (p.His3980Arg)
19g.38543805A>TCA405662829RYR1c.352A>T
c.334A>T
c.11942A>T (p.His3981Leu)
c.11927A>T (p.His3976Leu)
c.11924A>T (p.His3975Leu)
c.551A>T
c.5311A>T
c.11909A>T (p.His3970Leu)
c.11939A>T (p.His3980Leu)
19g.38543806C>ACA405662830RYR1c.353C>A
c.335C>A
c.11943C>A (p.His3981Gln)
c.11928C>A (p.His3976Gln)
c.11925C>A (p.His3975Gln)
c.552C>A
c.5312C>A
c.11910C>A (p.His3970Gln)
c.11940C>A (p.His3980Gln)
19g.38543806C=CA2335074533RYR1c.353C=
c.335C=
c.11943C= (p.His3981=)
c.11928C= (p.His3976=)
c.11925C= (p.His3975=)
c.552C=
c.5312C=
c.11910C= (p.His3970=)
c.11940C= (p.His3980=)
19g.38543806C>GCA405662831RYR1c.353C>G
c.335C>G
c.11943C>G (p.His3981Gln)
c.11928C>G (p.His3976Gln)
c.11925C>G (p.His3975Gln)
c.552C>G
c.5312C>G
c.11910C>G (p.His3970Gln)
c.11940C>G (p.His3980Gln)
 dbSNP gnomAD v3 gnomAD v4
19g.38543806C>TCA507242624RYR1c.353C>T
c.335C>T
c.11943C>T (p.His3981=)
c.11928C>T (p.His3976=)
c.11925C>T (p.His3975=)
c.552C>T
c.5312C>T
c.11910C>T (p.His3970=)
c.11940C>T (p.His3980=)
 dbSNP gnomAD v3 gnomAD v4
19g.38543807A=CA2335074534RYR1c.354A=
c.336A=
c.11944A= (p.Ser3982=)
c.11929A= (p.Ser3977=)
c.11926A= (p.Ser3976=)
c.553A=
c.5313A=
c.11911A= (p.Ser3971=)
c.11941A= (p.Ser3981=)
19g.38543807A>CCA405662832RYR1c.354A>C
c.336A>C
c.11944A>C (p.Ser3982Arg)
c.11929A>C (p.Ser3977Arg)
c.11926A>C (p.Ser3976Arg)
c.553A>C
c.5313A>C
c.11911A>C (p.Ser3971Arg)
c.11941A>C (p.Ser3981Arg)
19g.38543807A>GCA405662833RYR1c.354A>G
c.336A>G
c.11944A>G (p.Ser3982Gly)
c.11929A>G (p.Ser3977Gly)
c.11926A>G (p.Ser3976Gly)
c.553A>G
c.5313A>G
c.11911A>G (p.Ser3971Gly)
c.11941A>G (p.Ser3981Gly)
 dbSNP gnomAD v2 gnomAD v4
19g.38543807A>TCA405662834RYR1c.354A>T
c.336A>T
c.11944A>T (p.Ser3982Cys)
c.11929A>T (p.Ser3977Cys)
c.11926A>T (p.Ser3976Cys)
c.553A>T
c.5313A>T
c.11911A>T (p.Ser3971Cys)
c.11941A>T (p.Ser3981Cys)
19g.38543808G>ACA405662837RYR1c.355G>A
c.337G>A
c.11945G>A (p.Ser3982Asn)
c.11930G>A (p.Ser3977Asn)
c.11927G>A (p.Ser3976Asn)
c.554G>A
c.5314G>A
c.11912G>A (p.Ser3971Asn)
c.11942G>A (p.Ser3981Asn)
19g.38543808G>CCA405662836RYR1c.355G>C
c.337G>C
c.11945G>C (p.Ser3982Thr)
c.11930G>C (p.Ser3977Thr)
c.11927G>C (p.Ser3976Thr)
c.554G>C
c.5314G>C
c.11912G>C (p.Ser3971Thr)
c.11942G>C (p.Ser3981Thr)
19g.38543808G>TCA405662835RYR1c.355G>T
c.337G>T
c.11945G>T (p.Ser3982Ile)
c.11930G>T (p.Ser3977Ile)
c.11927G>T (p.Ser3976Ile)
c.554G>T
c.5314G>T
c.11912G>T (p.Ser3971Ile)
c.11942G>T (p.Ser3981Ile)
19g.38543809T>ACA405662838RYR1c.356T>A
c.338T>A
c.11946T>A (p.Ser3982Arg)
c.11931T>A (p.Ser3977Arg)
c.11928T>A (p.Ser3976Arg)
c.555T>A
c.5315T>A
c.11913T>A (p.Ser3971Arg)
c.11943T>A (p.Ser3981Arg)
19g.38543809T>CCA507242626RYR1c.356T>C
c.338T>C
c.11946T>C (p.Ser3982=)
c.11931T>C (p.Ser3977=)
c.11928T>C (p.Ser3976=)
c.555T>C
c.5315T>C
c.11913T>C (p.Ser3971=)
c.11943T>C (p.Ser3981=)
19g.38543809T>GCA405662839RYR1c.356T>G
c.338T>G
c.11946T>G (p.Ser3982Arg)
c.11931T>G (p.Ser3977Arg)
c.11928T>G (p.Ser3976Arg)
c.555T>G
c.5315T>G
c.11913T>G (p.Ser3971Arg)
c.11943T>G (p.Ser3981Arg)
19g.38543810C>ACA405662840RYR1c.357C>A
c.339C>A
c.11947C>A (p.Arg3983Ser)
c.11932C>A (p.Arg3978Ser)
c.11929C>A (p.Arg3977Ser)
c.556C>A
c.5316C>A
c.11914C>A (p.Arg3972Ser)
c.11944C>A (p.Arg3982Ser)
19g.38543810C=CA2335074535RYR1c.357C=
c.339C=
c.11947C= (p.Arg3983=)
c.11932C= (p.Arg3978=)
c.11929C= (p.Arg3977=)
c.556C=
c.5316C=
c.11914C= (p.Arg3972=)
c.11944C= (p.Arg3982=)
19g.38543810C>GCA405662841RYR1c.357C>G
c.339C>G
c.11947C>G (p.Arg3983Gly)
c.11932C>G (p.Arg3978Gly)
c.11929C>G (p.Arg3977Gly)
c.556C>G
c.5316C>G
c.11914C>G (p.Arg3972Gly)
c.11944C>G (p.Arg3982Gly)
19g.38543810C>TCA405662842RYR1c.357C>T
c.339C>T
c.11947C>T (p.Arg3983Cys)
c.11932C>T (p.Arg3978Cys)
c.11929C>T (p.Arg3977Cys)
c.556C>T
c.5316C>T
c.11914C>T (p.Arg3972Cys)
c.11944C>T (p.Arg3982Cys)
 ClinVar dbSNP COSMIC
19g.38543811G>ACA405662843RYR1c.358G>A
c.340G>A
c.11948G>A (p.Arg3983His)
c.11933G>A (p.Arg3978His)
c.11930G>A (p.Arg3977His)
c.557G>A
c.5317G>A
c.11915G>A (p.Arg3972His)
c.11945G>A (p.Arg3982His)
19g.38543811G>CCA405662844RYR1c.358G>C
c.340G>C
c.11948G>C (p.Arg3983Pro)
c.11933G>C (p.Arg3978Pro)
c.11930G>C (p.Arg3977Pro)
c.557G>C
c.5317G>C
c.11915G>C (p.Arg3972Pro)
c.11945G>C (p.Arg3982Pro)
19g.38543811G>TCA405662845RYR1c.358G>T
c.340G>T
c.11948G>T (p.Arg3983Leu)
c.11933G>T (p.Arg3978Leu)
c.11930G>T (p.Arg3977Leu)
c.557G>T
c.5317G>T
c.11915G>T (p.Arg3972Leu)
c.11945G>T (p.Arg3982Leu)
19g.38543812C>ACA507242628RYR1c.359C>A
c.341C>A
c.11949C>A (p.Arg3983=)
c.11934C>A (p.Arg3978=)
c.11931C>A (p.Arg3977=)
c.558C>A
c.5318C>A
c.11916C>A (p.Arg3972=)
c.11946C>A (p.Arg3982=)
 gnomAD v4
19g.38543812C>GCA507242631RYR1c.359C>G
c.341C>G
c.11949C>G (p.Arg3983=)
c.11934C>G (p.Arg3978=)
c.11931C>G (p.Arg3977=)
c.558C>G
c.5318C>G
c.11916C>G (p.Arg3972=)
c.11946C>G (p.Arg3982=)
 ClinVar
19g.38543812C>TCA507242629RYR1c.359C>T
c.341C>T
c.11949C>T (p.Arg3983=)
c.11934C>T (p.Arg3978=)
c.11931C>T (p.Arg3977=)
c.558C>T
c.5318C>T
c.11916C>T (p.Arg3972=)
c.11946C>T (p.Arg3982=)
19g.38543813C>ACA405662846RYR1c.360C>A
c.342C>A
c.11950C>A (p.Leu3984Ile)
c.11935C>A (p.Leu3979Ile)
c.11932C>A (p.Leu3978Ile)
c.559C>A
c.5319C>A
c.11917C>A (p.Leu3973Ile)
c.11947C>A (p.Leu3983Ile)
19g.38543813C=CA2335074536RYR1c.360C=
c.342C=
c.11950C= (p.Leu3984=)
c.11935C= (p.Leu3979=)
c.11932C= (p.Leu3978=)
c.559C=
c.5319C=
c.11917C= (p.Leu3973=)
c.11947C= (p.Leu3983=)
19g.38543813C>GCA405662847RYR1c.360C>G
c.342C>G
c.11950C>G (p.Leu3984Val)
c.11935C>G (p.Leu3979Val)
c.11932C>G (p.Leu3978Val)
c.559C>G
c.5319C>G
c.11917C>G (p.Leu3973Val)
c.11947C>G (p.Leu3983Val)
19g.38543813C>TCA507242633RYR1c.360C>T
c.342C>T
c.11950C>T (p.Leu3984=)
c.11935C>T (p.Leu3979=)
c.11932C>T (p.Leu3978=)
c.559C>T
c.5319C>T
c.11917C>T (p.Leu3973=)
c.11947C>T (p.Leu3983=)
 ClinVar dbSNP gnomAD v4
19g.38543814T>ACA405662848RYR1c.361T>A
c.343T>A
c.11951T>A (p.Leu3984Gln)
c.11936T>A (p.Leu3979Gln)
c.11933T>A (p.Leu3978Gln)
c.560T>A
c.5320T>A
c.11918T>A (p.Leu3973Gln)
c.11948T>A (p.Leu3983Gln)
19g.38543814T>CCA405662849RYR1c.361T>C
c.343T>C
c.11951T>C (p.Leu3984Pro)
c.11936T>C (p.Leu3979Pro)
c.11933T>C (p.Leu3978Pro)
c.560T>C
c.5320T>C
c.11918T>C (p.Leu3973Pro)
c.11948T>C (p.Leu3983Pro)
19g.38543814T>GCA405662850RYR1c.361T>G
c.343T>G
c.11951T>G (p.Leu3984Arg)
c.11936T>G (p.Leu3979Arg)
c.11933T>G (p.Leu3978Arg)
c.560T>G
c.5320T>G
c.11918T>G (p.Leu3973Arg)
c.11948T>G (p.Leu3983Arg)
19g.38543815A=CA2335074537RYR1c.362A=
c.344A=
c.11952A= (p.Leu3984=)
c.11937A= (p.Leu3979=)
c.11934A= (p.Leu3978=)
c.561A=
c.5321A=
c.11919A= (p.Leu3973=)
c.11949A= (p.Leu3983=)
19g.38543815A>CCA308092405RYR1c.362A>C
c.344A>C
c.11952A>C (p.Leu3984=)
c.11937A>C (p.Leu3979=)
c.11934A>C (p.Leu3978=)
c.561A>C
c.5321A>C
c.11919A>C (p.Leu3973=)
c.11949A>C (p.Leu3983=)
 dbSNP
19g.38543815A>GCA057950RYR1c.362A>G
c.344A>G
c.11952A>G (p.Leu3984=)
c.11937A>G (p.Leu3979=)
c.11934A>G (p.Leu3978=)
c.561A>G
c.5321A>G
c.11919A>G (p.Leu3973=)
c.11949A>G (p.Leu3983=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38543815A>TCA507242634RYR1c.362A>T
c.344A>T
c.11952A>T (p.Leu3984=)
c.11937A>T (p.Leu3979=)
c.11934A>T (p.Leu3978=)
c.561A>T
c.5321A>T
c.11919A>T (p.Leu3973=)
c.11949A>T (p.Leu3983=)
19g.38543816T>ACA405662852RYR1c.363T>A
c.345T>A
c.11953T>A (p.Trp3985Arg)
c.11938T>A (p.Trp3980Arg)
c.11935T>A (p.Trp3979Arg)
c.562T>A
c.5322T>A
c.11920T>A (p.Trp3974Arg)
c.11950T>A (p.Trp3984Arg)
19g.38543816T>CCA023949RYR1c.363T>C
c.345T>C
c.11953T>C (p.Trp3985Arg)
c.11938T>C (p.Trp3980Arg)
c.11935T>C (p.Trp3979Arg)
c.562T>C
c.5322T>C
c.11920T>C (p.Trp3974Arg)
c.11950T>C (p.Trp3984Arg)
 ClinVar dbSNP gnomAD v4
19g.38543816T>GCA405662851RYR1c.363T>G
c.345T>G
c.11953T>G (p.Trp3985Gly)
c.11938T>G (p.Trp3980Gly)
c.11935T>G (p.Trp3979Gly)
c.562T>G
c.5322T>G
c.11920T>G (p.Trp3974Gly)
c.11950T>G (p.Trp3984Gly)
19g.38543816T=CA2335074538RYR1c.363T=
c.345T=
c.11953T= (p.Trp3985=)
c.11938T= (p.Trp3980=)
c.11935T= (p.Trp3979=)
c.562T=
c.5322T=
c.11920T= (p.Trp3974=)
c.11950T= (p.Trp3984=)
19g.38543817G>ACA405662853RYR1c.364G>A
c.346G>A
c.11954G>A (p.Trp3985Ter)
c.11939G>A (p.Trp3980Ter)
c.11936G>A (p.Trp3979Ter)
c.563G>A
c.5323G>A
c.11921G>A (p.Trp3974Ter)
c.11951G>A (p.Trp3984Ter)
 gnomAD v4
19g.38543817G>CCA405662854RYR1c.364G>C
c.346G>C
c.11954G>C (p.Trp3985Ser)
c.11939G>C (p.Trp3980Ser)
c.11936G>C (p.Trp3979Ser)
c.563G>C
c.5323G>C
c.11921G>C (p.Trp3974Ser)
c.11951G>C (p.Trp3984Ser)
19g.38543817G>TCA405662855RYR1c.364G>T
c.346G>T
c.11954G>T (p.Trp3985Leu)
c.11939G>T (p.Trp3980Leu)
c.11936G>T (p.Trp3979Leu)
c.563G>T
c.5323G>T
c.11921G>T (p.Trp3974Leu)
c.11951G>T (p.Trp3984Leu)
19g.38543819delCA2739276752RYR1c.366del
c.348del
c.11956del (p.Asp3986ThrfsTer13)
c.11941del (p.Asp3981ThrfsTer13)
c.11938del (p.Asp3980ThrfsTer13)
c.565del
c.5325del
c.11923del (p.Asp3975ThrfsTer13)
c.11953del (p.Asp3985ThrfsTer13)
 ClinVar
19g.38543818G>ACA405662856RYR1c.365G>A
c.347G>A
c.11955G>A (p.Trp3985Ter)
c.11940G>A (p.Trp3980Ter)
c.11937G>A (p.Trp3979Ter)
c.564G>A
c.5324G>A
c.11922G>A (p.Trp3974Ter)
c.11952G>A (p.Trp3984Ter)
19g.38543818G>CCA405662857RYR1c.365G>C
c.347G>C
c.11955G>C (p.Trp3985Cys)
c.11940G>C (p.Trp3980Cys)
c.11937G>C (p.Trp3979Cys)
c.564G>C
c.5324G>C
c.11922G>C (p.Trp3974Cys)
c.11952G>C (p.Trp3984Cys)
 dbSNP
19g.38543818G=CA2335074539RYR1c.365G=
c.347G=
c.11955G= (p.Trp3985=)
c.11940G= (p.Trp3980=)
c.11937G= (p.Trp3979=)
c.564G=
c.5324G=
c.11922G= (p.Trp3974=)
c.11952G= (p.Trp3984=)
19g.38543818G>TCA405662858RYR1c.365G>T
c.347G>T
c.11955G>T (p.Trp3985Cys)
c.11940G>T (p.Trp3980Cys)
c.11937G>T (p.Trp3979Cys)
c.564G>T
c.5324G>T
c.11922G>T (p.Trp3974Cys)
c.11952G>T (p.Trp3984Cys)
19g.38543819G>ACA405662859RYR1c.366G>A
c.348G>A
c.11956G>A (p.Asp3986Asn)
c.11941G>A (p.Asp3981Asn)
c.11938G>A (p.Asp3980Asn)
c.565G>A
c.5325G>A
c.11923G>A (p.Asp3975Asn)
c.11953G>A (p.Asp3985Asn)
19g.38543819G>CCA080497RYR1c.366G>C
c.348G>C
c.11956G>C (p.Asp3986His)
c.11941G>C (p.Asp3981His)
c.11938G>C (p.Asp3980His)
c.565G>C
c.5325G>C
c.11923G>C (p.Asp3975His)
c.11953G>C (p.Asp3985His)
19g.38543819G>TCA405662860RYR1c.366G>T
c.348G>T
c.11956G>T (p.Asp3986Tyr)
c.11941G>T (p.Asp3981Tyr)
c.11938G>T (p.Asp3980Tyr)
c.565G>T
c.5325G>T
c.11923G>T (p.Asp3975Tyr)
c.11953G>T (p.Asp3985Tyr)
19g.38543820A>CCA405662861RYR1c.367A>C
c.349A>C
c.11957A>C (p.Asp3986Ala)
c.11942A>C (p.Asp3981Ala)
c.11939A>C (p.Asp3980Ala)
c.566A>C
c.5326A>C
c.11924A>C (p.Asp3975Ala)
c.11954A>C (p.Asp3985Ala)
19g.38543820A>GCA405662862RYR1c.367A>G
c.349A>G
c.11957A>G (p.Asp3986Gly)
c.11942A>G (p.Asp3981Gly)
c.11939A>G (p.Asp3980Gly)
c.566A>G
c.5326A>G
c.11924A>G (p.Asp3975Gly)
c.11954A>G (p.Asp3985Gly)
19g.38543820A>TCA405662863RYR1c.367A>T
c.349A>T
c.11957A>T (p.Asp3986Val)
c.11942A>T (p.Asp3981Val)
c.11939A>T (p.Asp3980Val)
c.566A>T
c.5326A>T
c.11924A>T (p.Asp3975Val)
c.11954A>T (p.Asp3985Val)
19g.38543821C>ACA405662864RYR1c.368C>A
c.350C>A
c.11958C>A (p.Asp3986Glu)
c.11943C>A (p.Asp3981Glu)
c.11940C>A (p.Asp3980Glu)
c.567C>A
c.5327C>A
c.11925C>A (p.Asp3975Glu)
c.11955C>A (p.Asp3985Glu)
19g.38543821C=CA2335074540RYR1c.368C=
c.350C=
c.11958C= (p.Asp3986=)
c.11943C= (p.Asp3981=)
c.11940C= (p.Asp3980=)
c.567C=
c.5327C=
c.11925C= (p.Asp3975=)
c.11955C= (p.Asp3985=)
19g.38543821C>GCA023951RYR1c.368C>G
c.350C>G
c.11958C>G (p.Asp3986Glu)
c.11943C>G (p.Asp3981Glu)
c.11940C>G (p.Asp3980Glu)
c.567C>G
c.5327C>G
c.11925C>G (p.Asp3975Glu)
c.11955C>G (p.Asp3985Glu)
 ClinVar dbSNP gnomAD v4
19g.38543821C>TCA507242642RYR1c.368C>T
c.350C>T
c.11958C>T (p.Asp3986=)
c.11943C>T (p.Asp3981=)
c.11940C>T (p.Asp3980=)
c.567C>T
c.5327C>T
c.11925C>T (p.Asp3975=)
c.11955C>T (p.Asp3985=)
 dbSNP gnomAD v2 gnomAD v4
19g.38543822G>ACA405662865RYR1c.369G>A
c.351G>A
c.11959G>A (p.Ala3987Thr)
c.11944G>A (p.Ala3982Thr)
c.11941G>A (p.Ala3981Thr)
c.568G>A
c.5328G>A
c.11926G>A (p.Ala3976Thr)
c.11956G>A (p.Ala3986Thr)
19g.38543822G>CCA405662866RYR1c.369G>C
c.351G>C
c.11959G>C (p.Ala3987Pro)
c.11944G>C (p.Ala3982Pro)
c.11941G>C (p.Ala3981Pro)
c.568G>C
c.5328G>C
c.11926G>C (p.Ala3976Pro)
c.11956G>C (p.Ala3986Pro)
19g.38543822G>TCA405662867RYR1c.369G>T
c.351G>T
c.11959G>T (p.Ala3987Ser)
c.11944G>T (p.Ala3982Ser)
c.11941G>T (p.Ala3981Ser)
c.568G>T
c.5328G>T
c.11926G>T (p.Ala3976Ser)
c.11956G>T (p.Ala3986Ser)
19g.38543823C>ACA405662868RYR1c.370C>A
c.352C>A
c.11960C>A (p.Ala3987Glu)
c.11945C>A (p.Ala3982Glu)
c.11942C>A (p.Ala3981Glu)
c.569C>A
c.5329C>A
c.11927C>A (p.Ala3976Glu)
c.11957C>A (p.Ala3986Glu)
19g.38543823C>GCA405662869RYR1c.370C>G
c.352C>G
c.11960C>G (p.Ala3987Gly)
c.11945C>G (p.Ala3982Gly)
c.11942C>G (p.Ala3981Gly)
c.569C>G
c.5329C>G
c.11927C>G (p.Ala3976Gly)
c.11957C>G (p.Ala3986Gly)
19g.38543823C>TCA080502RYR1c.370C>T
c.352C>T
c.11960C>T (p.Ala3987Val)
c.11945C>T (p.Ala3982Val)
c.11942C>T (p.Ala3981Val)
c.569C>T
c.5329C>T
c.11927C>T (p.Ala3976Val)
c.11957C>T (p.Ala3986Val)
19g.38543824A>CCA507242643RYR1c.371A>C
c.353A>C
c.11961A>C (p.Ala3987=)
c.11946A>C (p.Ala3982=)
c.11943A>C (p.Ala3981=)
c.570A>C
c.5330A>C
c.11928A>C (p.Ala3976=)
c.11958A>C (p.Ala3986=)
 ClinVar
19g.38543824A>GCA507242644RYR1c.371A>G
c.353A>G
c.11961A>G (p.Ala3987=)
c.11946A>G (p.Ala3982=)
c.11943A>G (p.Ala3981=)
c.570A>G
c.5330A>G
c.11928A>G (p.Ala3976=)
c.11958A>G (p.Ala3986=)
19g.38543824A>TCA507242645RYR1c.371A>T
c.353A>T
c.11961A>T (p.Ala3987=)
c.11946A>T (p.Ala3982=)
c.11943A>T (p.Ala3981=)
c.570A>T
c.5330A>T
c.11928A>T (p.Ala3976=)
c.11958A>T (p.Ala3986=)
19g.38543825G>ACA405662870RYR1c.372G>A
c.354G>A
c.11962G>A (p.Val3988Met)
c.11947G>A (p.Val3983Met)
c.11944G>A (p.Val3982Met)
c.571G>A
c.5331G>A
c.11929G>A (p.Val3977Met)
c.11959G>A (p.Val3987Met)
19g.38543825G>CCA405662871RYR1c.372G>C
c.354G>C
c.11962G>C (p.Val3988Leu)
c.11947G>C (p.Val3983Leu)
c.11944G>C (p.Val3982Leu)
c.571G>C
c.5331G>C
c.11929G>C (p.Val3977Leu)
c.11959G>C (p.Val3987Leu)
19g.38543825G>TCA405662872RYR1c.372G>T
c.354G>T
c.11962G>T (p.Val3988Leu)
c.11947G>T (p.Val3983Leu)
c.11944G>T (p.Val3982Leu)
c.571G>T
c.5331G>T
c.11929G>T (p.Val3977Leu)
c.11959G>T (p.Val3987Leu)
19g.38543826T>ACA405662873RYR1c.373T>A
c.355T>A
c.11963T>A (p.Val3988Glu)
c.11948T>A (p.Val3983Glu)
c.11945T>A (p.Val3982Glu)
c.572T>A
c.5332T>A
c.11930T>A (p.Val3977Glu)
c.11960T>A (p.Val3987Glu)
19g.38543826T>CCA405662874RYR1c.373T>C
c.355T>C
c.11963T>C (p.Val3988Ala)
c.11948T>C (p.Val3983Ala)
c.11945T>C (p.Val3982Ala)
c.572T>C
c.5332T>C
c.11930T>C (p.Val3977Ala)
c.11960T>C (p.Val3987Ala)
19g.38543826T>GCA405662875RYR1c.373T>G
c.355T>G
c.11963T>G (p.Val3988Gly)
c.11948T>G (p.Val3983Gly)
c.11945T>G (p.Val3982Gly)
c.572T>G
c.5332T>G
c.11930T>G (p.Val3977Gly)
c.11960T>G (p.Val3987Gly)
19g.38543827G>ACA507242651RYR1c.374G>A
c.356G>A
c.11964G>A (p.Val3988=)
c.11949G>A (p.Val3983=)
c.11946G>A (p.Val3982=)
c.573G>A
c.5333G>A
c.11931G>A (p.Val3977=)
c.11961G>A (p.Val3987=)
19g.38543827G>CCA507242649RYR1c.374G>C
c.356G>C
c.11964G>C (p.Val3988=)
c.11949G>C (p.Val3983=)
c.11946G>C (p.Val3982=)
c.573G>C
c.5333G>C
c.11931G>C (p.Val3977=)
c.11961G>C (p.Val3987=)
19g.38543827G>TCA507242650RYR1c.374G>T
c.356G>T
c.11964G>T (p.Val3988=)
c.11949G>T (p.Val3983=)
c.11946G>T (p.Val3982=)
c.573G>T
c.5333G>T
c.11931G>T (p.Val3977=)
c.11961G>T (p.Val3987=)
19g.38543828G>ACA057954RYR1c.375G>A
c.357G>A
c.11965G>A (p.Val3989Met)
c.11950G>A (p.Val3984Met)
c.11947G>A (p.Val3983Met)
c.574G>A
c.5334G>A
c.11932G>A (p.Val3978Met)
c.11962G>A (p.Val3988Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38543828G>CCA405662877RYR1c.375G>C
c.357G>C
c.11965G>C (p.Val3989Leu)
c.11950G>C (p.Val3984Leu)
c.11947G>C (p.Val3983Leu)
c.574G>C
c.5334G>C
c.11932G>C (p.Val3978Leu)
c.11962G>C (p.Val3988Leu)
19g.38543828G=CA2335074541RYR1c.375G=
c.357G=
c.11965G= (p.Val3989=)
c.11950G= (p.Val3984=)
c.11947G= (p.Val3983=)
c.574G=
c.5334G=
c.11932G= (p.Val3978=)
c.11962G= (p.Val3988=)
19g.38543828G>TCA405662876RYR1c.375G>T
c.357G>T
c.11965G>T (p.Val3989Leu)
c.11950G>T (p.Val3984Leu)
c.11947G>T (p.Val3983Leu)
c.574G>T
c.5334G>T
c.11932G>T (p.Val3978Leu)
c.11962G>T (p.Val3988Leu)

Number of alleles fetched