Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38496194G>ACA068381RYR1c.6549-21G>A (n.6549-21G>A)
c.6546-21G>A (n.6546-21G>A)
n.6632-21G>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.38496194G=CA2335051119RYR1c.6549-21G= (n.6549-21G=)
c.6546-21G= (n.6546-21G=)
n.6632-21G=
19g.38496194G>TCA068383RYR1c.6549-21G>T (n.6549-21G>T)
c.6546-21G>T (n.6546-21G>T)
n.6632-21G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38496195C=CA2335051120RYR1c.6549-20C= (n.6549-20C=)
c.6546-20C= (n.6546-20C=)
n.6632-20C=
19g.38496195C>GCA2543635976RYR1c.6549-20C>G (n.6549-20C>G)
c.6546-20C>G (n.6546-20C>G)
n.6632-20C>G
19g.38496195C>TCA308103902RYR1c.6549-20C>T (n.6549-20C>T)
c.6546-20C>T (n.6546-20C>T)
n.6632-20C>T
 ClinVar dbSNP gnomAD v2
19g.38496197C>ACA2584899386RYR1c.6549-18C>A (n.6549-18C>A)
c.6546-18C>A (n.6546-18C>A)
n.6632-18C>A
 gnomAD v4
19g.38496197C>TCA2584899387RYR1c.6549-18C>T (n.6549-18C>T)
c.6546-18C>T (n.6546-18C>T)
n.6632-18C>T
 gnomAD v4
19g.38496199C>ACA2584899388RYR1c.6549-16C>A (n.6549-16C>A)
c.6546-16C>A (n.6546-16C>A)
n.6632-16C>A
 gnomAD v4
19g.38496199C=CA2335051121RYR1c.6549-16C= (n.6549-16C=)
c.6546-16C= (n.6546-16C=)
n.6632-16C=
19g.38496199C>TCA2335051122RYR1c.6549-16C>T (n.6549-16C>T)
c.6546-16C>T (n.6546-16C>T)
n.6632-16C>T
 ClinVar dbSNP gnomAD v4
19g.38496201_38496202delCA2736031611RYR1c.6549-14_6549-13del (n.6549-14_6549-13del)
c.6546-14_6546-13del (n.6546-14_6546-13del)
n.6632-14_6632-13del
 dbSNP
19g.38496200T>ACA2814344802RYR1c.6549-15T>A (n.6549-15T>A)
c.6546-15T>A (n.6546-15T>A)
n.6632-15T>A
19g.38496200T>CCA2335051124RYR1c.6549-15T>C (n.6549-15T>C)
c.6546-15T>C (n.6546-15T>C)
n.6632-15T>C
 dbSNP
19g.38496200T=CA2335051123RYR1c.6549-15T= (n.6549-15T=)
c.6546-15T= (n.6546-15T=)
n.6632-15T=
19g.38496201C>GCA2576770939RYR1c.6549-14C>G (n.6549-14C>G)
c.6546-14C>G (n.6546-14C>G)
n.6632-14C>G
19g.38496201C>TCA2825002776RYR1c.6549-14C>T (n.6549-14C>T)
c.6546-14C>T (n.6546-14C>T)
n.6632-14C>T
 ClinVar
19g.38496203G>ACA2584899389RYR1c.6549-12G>A (n.6549-12G>A)
c.6546-12G>A (n.6546-12G>A)
n.6632-12G>A
 gnomAD v4
19g.38496203G>CCA2335051126RYR1c.6549-12G>C (n.6549-12G>C)
c.6546-12G>C (n.6546-12G>C)
n.6632-12G>C
 dbSNP gnomAD v4
19g.38496203G=CA2335051125RYR1c.6549-12G= (n.6549-12G=)
c.6546-12G= (n.6546-12G=)
n.6632-12G=
19g.38496203G>TCA2584899390RYR1c.6549-12G>T (n.6549-12G>T)
c.6546-12G>T (n.6546-12G>T)
n.6632-12G>T
 gnomAD v4
19g.38496204C>ACA2584899392RYR1c.6549-11C>A (n.6549-11C>A)
c.6546-11C>A (n.6546-11C>A)
n.6632-11C>A
 gnomAD v4
19g.38496204C=CA2335051127RYR1c.6549-11C= (n.6549-11C=)
c.6546-11C= (n.6546-11C=)
n.6632-11C=
19g.38496204C>GCA2584899393RYR1c.6549-11C>G (n.6549-11C>G)
c.6546-11C>G (n.6546-11C>G)
n.6632-11C>G
 gnomAD v4
19g.38496204C>TCA068380RYR1c.6549-11C>T (n.6549-11C>T)
c.6546-11C>T (n.6546-11C>T)
n.6632-11C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38496206C=CA2335051128RYR1c.6549-9C= (n.6549-9C=)
c.6546-9C= (n.6546-9C=)
n.6632-9C=
19g.38496206C>GCA2584899395RYR1c.6549-9C>G (n.6549-9C>G)
c.6546-9C>G (n.6546-9C>G)
n.6632-9C>G
 gnomAD v4
19g.38496206C>TCA068423RYR1c.6549-9C>T (n.6549-9C>T)
c.6546-9C>T (n.6546-9C>T)
n.6632-9C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38496207G>ACA068419RYR1c.6549-8G>A (n.6549-8G>A)
c.6546-8G>A (n.6546-8G>A)
n.6632-8G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38496207G=CA2335051129RYR1c.6549-8G= (n.6549-8G=)
c.6546-8G= (n.6546-8G=)
n.6632-8G=
19g.38496207G>TCA2335051130RYR1c.6549-8G>T (n.6549-8G>T)
c.6546-8G>T (n.6546-8G>T)
n.6632-8G>T
 dbSNP
19g.38496208T>GCA2584899409RYR1c.6549-7T>G (n.6549-7T>G)
c.6546-7T>G (n.6546-7T>G)
n.6632-7T>G
 ClinVar gnomAD v4
19g.38496209G>TCA2584899411RYR1c.6549-6G>T (n.6549-6G>T)
c.6546-6G>T (n.6546-6G>T)
n.6632-6G>T
 gnomAD v4
19g.38496210C=CA2335051131RYR1c.6549-5C= (n.6549-5C=)
c.6546-5C= (n.6546-5C=)
n.6632-5C=
19g.38496210C>TCA633066176RYR1c.6549-5C>T (n.6549-5C>T)
c.6546-5C>T (n.6546-5C>T)
n.6632-5C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38496214_38496219dupCA915952996RYR1c.6549-1_6553dup
c.6546-1_6550dup
n.6632-1_6636dup
 ClinVar dbSNP
19g.38496212C>ACA2814344809RYR1c.6549-3C>A (n.6549-3C>A)
c.6546-3C>A (n.6546-3C>A)
n.6632-3C>A
19g.38496212C=CA2335051132RYR1c.6549-3C= (n.6549-3C=)
c.6546-3C= (n.6546-3C=)
n.6632-3C=
19g.38496212C>TCA633066177RYR1c.6549-3C>T (n.6549-3C>T)
c.6546-3C>T (n.6546-3C>T)
n.6632-3C>T
 dbSNP gnomAD v2 gnomAD v4
19g.38496213A=CA2335051133RYR1c.6549-2A= (n.6549-2A=)
c.6546-2A= (n.6546-2A=)
n.6632-2A=
19g.38496213A>CCA405665449RYR1c.6549-2A>C (n.6549-2A>C)
c.6546-2A>C (n.6546-2A>C)
n.6632-2A>C
19g.38496213A>GCA308103945RYR1c.6549-2A>G (n.6549-2A>G)
c.6546-2A>G (n.6546-2A>G)
n.6632-2A>G
 dbSNP gnomAD v4
19g.38496213A>TCA308103957RYR1c.6549-2A>T (n.6549-2A>T)
c.6546-2A>T (n.6546-2A>T)
n.6632-2A>T
 dbSNP
19g.38496214G>ACA405665459RYR1c.6549-1G>A (n.6549-1G>A)
c.6546-1G>A (n.6546-1G>A)
n.6632-1G>A
 dbSNP gnomAD v2
19g.38496214G>CCA405665457RYR1c.6549-1G>C (n.6549-1G>C)
c.6546-1G>C (n.6546-1G>C)
n.6632-1G>C
19g.38496214G=CA2335051134RYR1c.6549-1G= (n.6549-1G=)
c.6546-1G= (n.6546-1G=)
n.6632-1G=
19g.38496214G>TCA405665454RYR1c.6549-1G>T (n.6549-1G>T)
c.6546-1G>T (n.6546-1G>T)
n.6632-1G>T
19g.38496215G>ACA507353498RYR1c.6549G>A (p.Gly2183=)
c.6546G>A (p.Gly2182=)
c.1G>A
n.6632G>A
19g.38496215G>CCA507353500RYR1c.6549G>C (p.Gly2183=)
c.6546G>C (p.Gly2182=)
c.1G>C
n.6632G>C
19g.38496215G>TCA507353501RYR1c.6549G>T (p.Gly2183=)
c.6546G>T (p.Gly2182=)
c.1G>T
n.6632G>T
19g.38496216A>CCA405665463RYR1c.6550A>C (p.Asn2184His)
c.6547A>C (p.Asn2183His)
c.2A>C
n.6633A>C
19g.38496216A>GCA405665468RYR1c.6550A>G (p.Asn2184Asp)
c.6547A>G (p.Asn2183Asp)
c.2A>G
n.6633A>G
19g.38496216A>TCA405665466RYR1c.6550A>T (p.Asn2184Tyr)
c.6547A>T (p.Asn2183Tyr)
c.2A>T
n.6633A>T
19g.38496217A=CA2335051135RYR1c.6551A= (p.Asn2184=)
c.6548A= (p.Asn2183=)
c.3A=
n.6634A=
19g.38496217A>CCA405665471RYR1c.6551A>C (p.Asn2184Thr)
c.6548A>C (p.Asn2183Thr)
c.3A>C
n.6634A>C
19g.38496217A>GCA405665484RYR1c.6551A>G (p.Asn2184Ser)
c.6548A>G (p.Asn2183Ser)
c.3A>G
n.6634A>G
 dbSNP gnomAD v3 gnomAD v4
19g.38496217A>TCA405665474RYR1c.6551A>T (p.Asn2184Ile)
c.6548A>T (p.Asn2183Ile)
c.3A>T
n.6634A>T
19g.38496218C>ACA405665487RYR1c.6552C>A (p.Asn2184Lys)
c.6549C>A (p.Asn2183Lys)
c.4C>A
n.6635C>A
19g.38496218C>GCA405665493RYR1c.6552C>G (p.Asn2184Lys)
c.6549C>G (p.Asn2183Lys)
c.4C>G
n.6635C>G
19g.38496218C>TCA507353504RYR1c.6552C>T (p.Asn2184=)
c.6549C>T (p.Asn2183=)
c.4C>T
n.6635C>T
19g.38496219A>CCA405665496RYR1c.6553A>C (p.Ile2185Leu)
c.6550A>C (p.Ile2184Leu)
c.5A>C
n.6636A>C
19g.38496219A>GCA405665499RYR1c.6553A>G (p.Ile2185Val)
c.6550A>G (p.Ile2184Val)
c.5A>G
n.6636A>G
 gnomAD v4
19g.38496219A>TCA405665497RYR1c.6553A>T (p.Ile2185Phe)
c.6550A>T (p.Ile2184Phe)
c.5A>T
n.6636A>T
19g.38496220T>ACA405665502RYR1c.6554T>A (p.Ile2185Asn)
c.6551T>A (p.Ile2184Asn)
c.6T>A
n.6637T>A
19g.38496220T>CCA405665507RYR1c.6554T>C (p.Ile2185Thr)
c.6551T>C (p.Ile2184Thr)
c.6T>C
n.6637T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38496220T>GCA405665504RYR1c.6554T>G (p.Ile2185Ser)
c.6551T>G (p.Ile2184Ser)
c.6T>G
n.6637T>G
19g.38496220T=CA2335051136RYR1c.6554T= (p.Ile2185=)
c.6551T= (p.Ile2184=)
c.6T=
n.6637T=
19g.38496221C>ACA507353506RYR1c.6555C>A (p.Ile2185=)
c.6552C>A (p.Ile2184=)
c.7C>A
n.6638C>A
19g.38496221C>GCA405665511RYR1c.6555C>G (p.Ile2185Met)
c.6552C>G (p.Ile2184Met)
c.7C>G
n.6638C>G
19g.38496221C>TCA507353510RYR1c.6555C>T (p.Ile2185=)
c.6552C>T (p.Ile2184=)
c.7C>T
n.6638C>T
19g.38496222A>CCA405665513RYR1c.6556A>C (p.Met2186Leu)
c.6553A>C (p.Met2185Leu)
c.8A>C
n.6639A>C
19g.38496222A>GCA405665515RYR1c.6556A>G (p.Met2186Val)
c.6553A>G (p.Met2185Val)
c.8A>G
n.6639A>G
 gnomAD v4
19g.38496222A>TCA405665517RYR1c.6556A>T (p.Met2186Leu)
c.6553A>T (p.Met2185Leu)
c.8A>T
n.6639A>T
19g.38496223T>ACA405665518RYR1c.6557T>A (p.Met2186Lys)
c.6554T>A (p.Met2185Lys)
c.9T>A
n.6640T>A
 gnomAD v4
19g.38496223T>CCA405665519RYR1c.6557T>C (p.Met2186Thr)
c.6554T>C (p.Met2185Thr)
c.9T>C
n.6640T>C
 dbSNP gnomAD v3 gnomAD v4
19g.38496223T>GCA405665520RYR1c.6557T>G (p.Met2186Arg)
c.6554T>G (p.Met2185Arg)
c.9T>G
n.6640T>G
19g.38496223T=CA2335051137RYR1c.6557T= (p.Met2186=)
c.6554T= (p.Met2185=)
c.9T=
n.6640T=
19g.38496224G>ACA405665523RYR1c.6558G>A (p.Met2186Ile)
c.6555G>A (p.Met2185Ile)
c.10G>A
n.6641G>A
19g.38496224G>CCA405665524RYR1c.6558G>C (p.Met2186Ile)
c.6555G>C (p.Met2185Ile)
c.10G>C
n.6641G>C
19g.38496224G>TCA405665526RYR1c.6558G>T (p.Met2186Ile)
c.6555G>T (p.Met2185Ile)
c.10G>T
n.6641G>T
19g.38496225A>CCA405665531RYR1c.6559A>C (p.Asn2187His)
c.6556A>C (p.Asn2186His)
c.11A>C
n.6642A>C
19g.38496225A>GCA405665530RYR1c.6559A>G (p.Asn2187Asp)
c.6556A>G (p.Asn2186Asp)
c.11A>G
n.6642A>G
19g.38496225A>TCA405665529RYR1c.6559A>T (p.Asn2187Tyr)
c.6556A>T (p.Asn2186Tyr)
c.11A>T
n.6642A>T
19g.38496226A>CCA405665532RYR1c.6560A>C (p.Asn2187Thr)
c.6557A>C (p.Asn2186Thr)
c.12A>C
n.6643A>C
19g.38496226A>GCA405665533RYR1c.6560A>G (p.Asn2187Ser)
c.6557A>G (p.Asn2186Ser)
c.12A>G
n.6643A>G
19g.38496226A>TCA405665534RYR1c.6560A>T (p.Asn2187Ile)
c.6557A>T (p.Asn2186Ile)
c.12A>T
n.6643A>T
19g.38496227C>ACA405665536RYR1c.6561C>A (p.Asn2187Lys)
c.6558C>A (p.Asn2186Lys)
c.13C>A
n.6644C>A
19g.38496227C=CA2335051138RYR1c.6561C= (p.Asn2187=)
c.6558C= (p.Asn2186=)
c.13C=
n.6644C=
19g.38496227C>GCA405665539RYR1c.6561C>G (p.Asn2187Lys)
c.6558C>G (p.Asn2186Lys)
c.13C>G
n.6644C>G
19g.38496227C>TCA068429RYR1c.6561C>T (p.Asn2187=)
c.6558C>T (p.Asn2186=)
c.13C>T
n.6644C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38496228A=CA2335051139RYR1c.6562A= (p.Asn2188=)
c.6559A= (p.Asn2187=)
c.14A=
n.6645A=
19g.38496228A>CCA405665546RYR1c.6562A>C (p.Asn2188His)
c.6559A>C (p.Asn2187His)
c.14A>C
n.6645A>C
19g.38496228A>GCA068433RYR1c.6562A>G (p.Asn2188Asp)
c.6559A>G (p.Asn2187Asp)
c.14A>G
n.6645A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38496228A>TCA405665549RYR1c.6562A>T (p.Asn2188Tyr)
c.6559A>T (p.Asn2187Tyr)
c.14A>T
n.6645A>T
19g.38496229A>CCA405665553RYR1c.6563A>C (p.Asn2188Thr)
c.6560A>C (p.Asn2187Thr)
c.15A>C
n.6646A>C
19g.38496229A>GCA405665556RYR1c.6563A>G (p.Asn2188Ser)
c.6560A>G (p.Asn2187Ser)
c.15A>G
n.6646A>G
19g.38496229A>TCA405665557RYR1c.6563A>T (p.Asn2188Ile)
c.6560A>T (p.Asn2187Ile)
c.15A>T
n.6646A>T
19g.38496230C>ACA405665559RYR1c.6564C>A (p.Asn2188Lys)
c.6561C>A (p.Asn2187Lys)
c.16C>A
n.6647C>A
19g.38496230C=CA2335051140RYR1c.6564C= (p.Asn2188=)
c.6561C= (p.Asn2187=)
c.16C=
n.6647C=
19g.38496230C>GCA024612RYR1c.6564C>G (p.Asn2188Lys)
c.6561C>G (p.Asn2187Lys)
c.16C>G
n.6647C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38496230C>TCA082129RYR1c.6564C>T (p.Asn2188=)
c.6561C>T (p.Asn2187=)
c.16C>T
n.6647C>T
 gnomAD v4
19g.38496230_38496232delinsCAACA2335051141RYR1c.6564_6566delinsCAA (p.Asn2188=)
c.6561_6563delinsCAA (p.Asn2187=)
c.16_18delinsCAA
n.6647_6649delinsCAA
19g.38496231A>CCA405665564RYR1c.6565A>C (p.Lys2189Gln)
c.6562A>C (p.Lys2188Gln)
c.17A>C
n.6648A>C
19g.38496231A>GCA082130RYR1c.6565A>G (p.Lys2189Glu)
c.6562A>G (p.Lys2188Glu)
c.17A>G
n.6648A>G
19g.38496231A>TCA405665577RYR1c.6565A>T (p.Lys2189Ter)
c.6562A>T (p.Lys2188Ter)
c.17A>T
n.6648A>T
19g.38496232_38496233delCA16620836RYR1c.6566_6567del (p.Lys2189SerfsTer?)
c.6563_6564del (p.Lys2188SerfsTer?)
c.18_19del
n.6649_6650del
 ClinVar dbSNP
19g.38496232A>CCA405665585RYR1c.6566A>C (p.Lys2189Thr)
c.6563A>C (p.Lys2188Thr)
c.18A>C
n.6649A>C
19g.38496232A>GCA405665587RYR1c.6566A>G (p.Lys2189Arg)
c.6563A>G (p.Lys2188Arg)
c.18A>G
n.6649A>G
 gnomAD v4
19g.38496232A>TCA405665594RYR1c.6566A>T (p.Lys2189Ile)
c.6563A>T (p.Lys2188Ile)
c.18A>T
n.6649A>T
19g.38496233A>CCA405665595RYR1c.6567A>C (p.Lys2189Asn)
c.6564A>C (p.Lys2188Asn)
c.19A>C
n.6650A>C
 ClinVar gnomAD v4
19g.38496233A>GCA507353520RYR1c.6567A>G (p.Lys2189=)
c.6564A>G (p.Lys2188=)
c.19A>G
n.6650A>G
19g.38496233A>TCA405665597RYR1c.6567A>T (p.Lys2189Asn)
c.6564A>T (p.Lys2188Asn)
c.19A>T
n.6650A>T
19g.38496234G>ACA405665600RYR1c.6568G>A (p.Val2190Ile)
c.6565G>A (p.Val2189Ile)
c.20G>A
n.6651G>A
19g.38496234G>CCA405665602RYR1c.6568G>C (p.Val2190Leu)
c.6565G>C (p.Val2189Leu)
c.20G>C
n.6651G>C
19g.38496234G>TCA405665604RYR1c.6568G>T (p.Val2190Phe)
c.6565G>T (p.Val2189Phe)
c.20G>T
n.6651G>T
19g.38496235T>ACA405665611RYR1c.6569T>A (p.Val2190Asp)
c.6566T>A (p.Val2189Asp)
c.21T>A
n.6652T>A
19g.38496235T>CCA405665609RYR1c.6569T>C (p.Val2190Ala)
c.6566T>C (p.Val2189Ala)
c.21T>C
n.6652T>C
19g.38496235T>GCA405665607RYR1c.6569T>G (p.Val2190Gly)
c.6566T>G (p.Val2189Gly)
c.21T>G
n.6652T>G
19g.38496236C>ACA507353521RYR1c.6570C>A (p.Val2190=)
c.6567C>A (p.Val2189=)
c.22C>A
n.6653C>A
19g.38496236C>GCA507353522RYR1c.6570C>G (p.Val2190=)
c.6567C>G (p.Val2189=)
c.22C>G
n.6653C>G
19g.38496236C>TCA082101RYR1c.6570C>T (p.Val2190=)
c.6567C>T (p.Val2189=)
c.22C>T
n.6653C>T
 gnomAD v4
19g.38496237T>ACA405665615RYR1c.6571T>A (p.Phe2191Ile)
c.6568T>A (p.Phe2190Ile)
c.23T>A
n.6654T>A
19g.38496237T>CCA405665616RYR1c.6571T>C (p.Phe2191Leu)
c.6568T>C (p.Phe2190Leu)
c.23T>C
n.6654T>C
19g.38496237T>GCA405665621RYR1c.6571T>G (p.Phe2191Val)
c.6568T>G (p.Phe2190Val)
c.23T>G
n.6654T>G
19g.38496238T>ACA405665625RYR1c.6572T>A (p.Phe2191Tyr)
c.6569T>A (p.Phe2190Tyr)
c.24T>A
n.6655T>A
19g.38496238T>CCA405665627RYR1c.6572T>C (p.Phe2191Ser)
c.6569T>C (p.Phe2190Ser)
c.24T>C
n.6655T>C
19g.38496238T>GCA405665629RYR1c.6572T>G (p.Phe2191Cys)
c.6569T>G (p.Phe2190Cys)
c.24T>G
n.6655T>G
19g.38496239C>ACA405665630RYR1c.6573C>A (p.Phe2191Leu)
c.6570C>A (p.Phe2190Leu)
c.25C>A
n.6656C>A
19g.38496239C=CA2335051142RYR1c.6573C= (p.Phe2191=)
c.6570C= (p.Phe2190=)
c.25C=
n.6656C=
19g.38496239C>GCA405665631RYR1c.6573C>G (p.Phe2191Leu)
c.6570C>G (p.Phe2190Leu)
c.25C>G
n.6656C>G
19g.38496239C>TCA068437RYR1c.6573C>T (p.Phe2191=)
c.6570C>T (p.Phe2190=)
c.25C>T
n.6656C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38496240T>ACA405665632RYR1c.6574T>A (p.Tyr2192Asn)
c.6571T>A (p.Tyr2191Asn)
c.26T>A
n.6657T>A
19g.38496240T>CCA405665634RYR1c.6574T>C (p.Tyr2192His)
c.6571T>C (p.Tyr2191His)
c.26T>C
n.6657T>C
19g.38496240T>GCA405665636RYR1c.6574T>G (p.Tyr2192Asp)
c.6571T>G (p.Tyr2191Asp)
c.26T>G
n.6657T>G
 gnomAD v4
19g.38496241A=CA2335051143RYR1c.6575A= (p.Tyr2192=)
c.6572A= (p.Tyr2191=)
c.27A=
n.6658A=
19g.38496241A>CCA405665642RYR1c.6575A>C (p.Tyr2192Ser)
c.6572A>C (p.Tyr2191Ser)
c.27A>C
n.6658A>C
19g.38496241A>GCA068441RYR1c.6575A>G (p.Tyr2192Cys)
c.6572A>G (p.Tyr2191Cys)
c.27A>G
n.6658A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38496241A>TCA405665638RYR1c.6575A>T (p.Tyr2192Phe)
c.6572A>T (p.Tyr2191Phe)
c.27A>T
n.6658A>T
19g.38496242C>ACA082102RYR1c.6576C>A (p.Tyr2192Ter)
c.6573C>A (p.Tyr2191Ter)
c.28C>A
n.6659C>A
19g.38496242C=CA2335051144RYR1c.6576C= (p.Tyr2192=)
c.6573C= (p.Tyr2191=)
c.28C=
n.6659C=
19g.38496242C>GCA405665646RYR1c.6576C>G (p.Tyr2192Ter)
c.6573C>G (p.Tyr2191Ter)
c.28C>G
n.6659C>G
19g.38496242C>TCA082132RYR1c.6576C>T (p.Tyr2192=)
c.6573C>T (p.Tyr2191=)
c.28C>T
n.6659C>T
 ClinVar dbSNP gnomAD v4
19g.38496243C>ACA405665648RYR1c.6577C>A (p.Gln2193Lys)
c.6574C>A (p.Gln2192Lys)
c.29C>A
n.6660C>A
19g.38496243C>GCA405665651RYR1c.6577C>G (p.Gln2193Glu)
c.6574C>G (p.Gln2192Glu)
c.29C>G
n.6660C>G
19g.38496243C>TCA405665653RYR1c.6577C>T (p.Gln2193Ter)
c.6574C>T (p.Gln2192Ter)
c.29C>T
n.6660C>T
 ClinVar COSMIC
19g.38496244A>CCA405665655RYR1c.6578A>C (p.Gln2193Pro)
c.6575A>C (p.Gln2192Pro)
c.30A>C
n.6661A>C
19g.38496244A>GCA082103RYR1c.6578A>G (p.Gln2193Arg)
c.6575A>G (p.Gln2192Arg)
c.30A>G
n.6661A>G
19g.38496244A>TCA405665659RYR1c.6578A>T (p.Gln2193Leu)
c.6575A>T (p.Gln2192Leu)
c.30A>T
n.6661A>T
19g.38496245A>CCA405665662RYR1c.6579A>C (p.Gln2193His)
c.6576A>C (p.Gln2192His)
c.31A>C
n.6662A>C
19g.38496245A>GCA507353531RYR1c.6579A>G (p.Gln2193=)
c.6576A>G (p.Gln2192=)
c.31A>G
n.6662A>G
19g.38496245A>TCA405665665RYR1c.6579A>T (p.Gln2193His)
c.6576A>T (p.Gln2192His)
c.31A>T
n.6662A>T
19g.38496246C>ACA405665668RYR1c.6580C>A (p.His2194Asn)
c.6577C>A (p.His2193Asn)
c.32C>A
n.6663C>A
 ClinVar dbSNP
19g.38496246C>GCA405665671RYR1c.6580C>G (p.His2194Asp)
c.6577C>G (p.His2193Asp)
c.32C>G
n.6663C>G
19g.38496246C>TCA405665674RYR1c.6580C>T (p.His2194Tyr)
c.6577C>T (p.His2193Tyr)
c.32C>T
n.6663C>T
 gnomAD v4
19g.38496247A=CA2335051145RYR1c.6581A= (p.His2194=)
c.6578A= (p.His2193=)
c.33A=
n.6664A=
19g.38496247A>CCA405665682RYR1c.6581A>C (p.His2194Pro)
c.6578A>C (p.His2193Pro)
c.33A>C
n.6664A>C
 dbSNP
19g.38496247A>GCA405665679RYR1c.6581A>G (p.His2194Arg)
c.6578A>G (p.His2193Arg)
c.33A>G
n.6664A>G
19g.38496247A>TCA405665676RYR1c.6581A>T (p.His2194Leu)
c.6578A>T (p.His2193Leu)
c.33A>T
n.6664A>T
19g.38496248C>ACA405665683RYR1c.6582C>A (p.His2194Gln)
c.6579C>A (p.His2193Gln)
c.34C>A
n.6665C>A
19g.38496248C=CA2335051146RYR1c.6582C= (p.His2194=)
c.6579C= (p.His2193=)
c.34C=
n.6665C=
19g.38496248C>GCA405665685RYR1c.6582C>G (p.His2194Gln)
c.6579C>G (p.His2193Gln)
c.34C>G
n.6665C>G
19g.38496248C>TCA308103989RYR1c.6582C>T (p.His2194=)
c.6579C>T (p.His2193=)
c.34C>T
n.6665C>T
 ClinVar dbSNP gnomAD v4
19g.38496249C>ACA405665687RYR1c.6583C>A (p.Pro2195Thr)
c.6580C>A (p.Pro2194Thr)
c.35C>A
n.6666C>A
19g.38496249C>GCA405665696RYR1c.6583C>G (p.Pro2195Ala)
c.6580C>G (p.Pro2194Ala)
c.35C>G
n.6666C>G
19g.38496249C>TCA405665699RYR1c.6583C>T (p.Pro2195Ser)
c.6580C>T (p.Pro2194Ser)
c.35C>T
n.6666C>T
 gnomAD v4 COSMIC
19g.38496250C>ACA405665703RYR1c.6584C>A (p.Pro2195Gln)
c.6581C>A (p.Pro2194Gln)
c.36C>A
n.6667C>A
 gnomAD v4
19g.38496250C=CA2335051147RYR1c.6584C= (p.Pro2195=)
c.6581C= (p.Pro2194=)
c.36C=
n.6667C=
19g.38496250C>GCA405665705RYR1c.6584C>G (p.Pro2195Arg)
c.6581C>G (p.Pro2194Arg)
c.36C>G
n.6667C>G
19g.38496250C>TCA068442RYR1c.6584C>T (p.Pro2195Leu)
c.6581C>T (p.Pro2194Leu)
c.36C>T
n.6667C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38496251G>ACA068447RYR1c.6585G>A (p.Pro2195=)
c.6582G>A (p.Pro2194=)
c.37G>A
n.6668G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38496251G>CCA507353540RYR1c.6585G>C (p.Pro2195=)
c.6582G>C (p.Pro2194=)
c.37G>C
n.6668G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38496251G=CA2335051148RYR1c.6585G= (p.Pro2195=)
c.6582G= (p.Pro2194=)
c.37G=
n.6668G=
19g.38496251G>TCA507353541RYR1c.6585G>T (p.Pro2195=)
c.6582G>T (p.Pro2194=)
c.37G>T
n.6668G>T
19g.38496252A>CCA405665711RYR1c.6586A>C (p.Asn2196His)
c.6583A>C (p.Asn2195His)
c.38A>C
n.6669A>C
 gnomAD v4
19g.38496252A>GCA405665713RYR1c.6586A>G (p.Asn2196Asp)
c.6583A>G (p.Asn2195Asp)
c.38A>G
n.6669A>G
 gnomAD v4
19g.38496252A>TCA405665717RYR1c.6586A>T (p.Asn2196Tyr)
c.6583A>T (p.Asn2195Tyr)
c.38A>T
n.6669A>T
19g.38496253A=CA2335051149RYR1c.6587A= (p.Asn2196=)
c.6584A= (p.Asn2195=)
c.39A=
n.6670A=
19g.38496253A>CCA405665724RYR1c.6587A>C (p.Asn2196Thr)
c.6584A>C (p.Asn2195Thr)
c.39A>C
n.6670A>C
19g.38496253A>GCA308104018RYR1c.6587A>G (p.Asn2196Ser)
c.6584A>G (p.Asn2195Ser)
c.39A>G
n.6670A>G
 dbSNP gnomAD v4
19g.38496253A>TCA405665719RYR1c.6587A>T (p.Asn2196Ile)
c.6584A>T (p.Asn2195Ile)
c.39A>T
n.6670A>T
19g.38496254C>ACA405665727RYR1c.6588C>A (p.Asn2196Lys)
c.6585C>A (p.Asn2195Lys)
c.40C>A
n.6671C>A
 ClinVar dbSNP
19g.38496254C=CA2335051150RYR1c.6588C= (p.Asn2196=)
c.6585C= (p.Asn2195=)
c.40C=
n.6671C=
19g.38496254C>GCA405665730RYR1c.6588C>G (p.Asn2196Lys)
c.6585C>G (p.Asn2195Lys)
c.40C>G
n.6671C>G
19g.38496254C>TCA507353548RYR1c.6588C>T (p.Asn2196=)
c.6585C>T (p.Asn2195=)
c.40C>T
n.6671C>T
 dbSNP gnomAD v4
19g.38496255C>ACA405665738RYR1c.6589C>A (p.Leu2197Met)
c.6586C>A (p.Leu2196Met)
c.41C>A
n.6672C>A
19g.38496255C>GCA405665741RYR1c.6589C>G (p.Leu2197Val)
c.6586C>G (p.Leu2196Val)
c.41C>G
n.6672C>G
19g.38496255C>TCA082106RYR1c.6589C>T (p.Leu2197=)
c.6586C>T (p.Leu2196=)
c.41C>T
n.6672C>T
 gnomAD v4
19g.38496256T>ACA405665743RYR1c.6590T>A (p.Leu2197Gln)
c.6587T>A (p.Leu2196Gln)
c.42T>A
n.6673T>A
19g.38496256T>CCA405665744RYR1c.6590T>C (p.Leu2197Pro)
c.6587T>C (p.Leu2196Pro)
c.42T>C
n.6673T>C
 dbSNP
19g.38496256T>GCA405665747RYR1c.6590T>G (p.Leu2197Arg)
c.6587T>G (p.Leu2196Arg)
c.42T>G
n.6673T>G
19g.38496256T=CA2335051151RYR1c.6590T= (p.Leu2197=)
c.6587T= (p.Leu2196=)
c.42T=
n.6673T=
19g.38496257G>ACA068451RYR1c.6591G>A (p.Leu2197=)
c.6588G>A (p.Leu2196=)
c.43G>A
n.6674G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38496257G>CCA507353554RYR1c.6591G>C (p.Leu2197=)
c.6588G>C (p.Leu2196=)
c.43G>C
n.6674G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38496257G=CA2335051152RYR1c.6591G= (p.Leu2197=)
c.6588G= (p.Leu2196=)
c.43G=
n.6674G=
19g.38496257G>TCA507353555RYR1c.6591G>T (p.Leu2197=)
c.6588G>T (p.Leu2196=)
c.43G>T
n.6674G>T
19g.38496258A=CA2335051153RYR1c.6592A= (p.Met2198=)
c.6589A= (p.Met2197=)
c.44A=
n.6675A=
19g.38496258A>CCA405665752RYR1c.6592A>C (p.Met2198Leu)
c.6589A>C (p.Met2197Leu)
c.44A>C
n.6675A>C
 dbSNP
19g.38496258A>GCA405665754RYR1c.6592A>G (p.Met2198Val)
c.6589A>G (p.Met2197Val)
c.44A>G
n.6675A>G
19g.38496258A>TCA405665757RYR1c.6592A>T (p.Met2198Leu)
c.6589A>T (p.Met2197Leu)
c.44A>T
n.6675A>T
19g.38496259T>ACA405665763RYR1c.6593T>A (p.Met2198Lys)
c.6590T>A (p.Met2197Lys)
c.45T>A
n.6676T>A
19g.38496259T>CCA405665762RYR1c.6593T>C (p.Met2198Thr)
c.6590T>C (p.Met2197Thr)
c.45T>C
n.6676T>C
 gnomAD v4 COSMIC
19g.38496259T>GCA405665761RYR1c.6593T>G (p.Met2198Arg)
c.6590T>G (p.Met2197Arg)
c.45T>G
n.6676T>G
19g.38496260G>ACA082107RYR1c.6594G>A (p.Met2198Ile)
c.6591G>A (p.Met2197Ile)
c.46G>A
n.6677G>A
 gnomAD v4
19g.38496260G>CCA405665767RYR1c.6594G>C (p.Met2198Ile)
c.6591G>C (p.Met2197Ile)
c.46G>C
n.6677G>C
19g.38496260G>TCA405665770RYR1c.6594G>T (p.Met2198Ile)
c.6591G>T (p.Met2197Ile)
c.46G>T
n.6677G>T
19g.38496261A>CCA507353560RYR1c.6595A>C (p.Arg2199=)
c.6592A>C (p.Arg2198=)
c.47A>C
n.6678A>C
19g.38496261A>GCA405665772RYR1c.6595A>G (p.Arg2199Gly)
c.6592A>G (p.Arg2198Gly)
c.47A>G
n.6678A>G
19g.38496261A>TCA405665773RYR1c.6595A>T (p.Arg2199Trp)
c.6592A>T (p.Arg2198Trp)
c.47A>T
n.6678A>T
19g.38496262G>ACA405665775RYR1c.6596G>A (p.Arg2199Lys)
c.6593G>A (p.Arg2198Lys)
c.48G>A
n.6679G>A
 gnomAD v4
19g.38496262G>CCA405665778RYR1c.6596G>C (p.Arg2199Thr)
c.6593G>C (p.Arg2198Thr)
c.48G>C
n.6679G>C
19g.38496262G>TCA405665780RYR1c.6596G>T (p.Arg2199Met)
c.6593G>T (p.Arg2198Met)
c.48G>T
n.6679G>T
19g.38496263G>ACA507353565RYR1c.6597G>A (p.Arg2199=)
c.6594G>A (p.Arg2198=)
c.49G>A
n.6680G>A
19g.38496263G>CCA405665781RYR1c.6597G>C (p.Arg2199Ser)
c.6594G>C (p.Arg2198Ser)
c.49G>C
n.6680G>C
19g.38496263G>TCA405665783RYR1c.6597G>T (p.Arg2199Ser)
c.6594G>T (p.Arg2198Ser)
c.49G>T
n.6680G>T
19g.38496264G>ACA068454RYR1c.6598G>A (p.Ala2200Thr)
c.6595G>A (p.Ala2199Thr)
c.50G>A
n.6681G>A
 dbSNP ExAC gnomAD v2
19g.38496264G>CCA405665786RYR1c.6598G>C (p.Ala2200Pro)
c.6595G>C (p.Ala2199Pro)
c.50G>C
n.6681G>C
 ClinVar
19g.38496264G=CA2335051154RYR1c.6598G= (p.Ala2200=)
c.6595G= (p.Ala2199=)
c.50G=
n.6681G=
19g.38496264G>TCA405665790RYR1c.6598G>T (p.Ala2200Ser)
c.6595G>T (p.Ala2199Ser)
c.50G>T
n.6681G>T
19g.38496265C>ACA068457RYR1c.6599C>A (p.Ala2200Glu)
c.6596C>A (p.Ala2199Glu)
c.51C>A
n.6682C>A
 dbSNP ExAC gnomAD v2
19g.38496265C=CA2335051155RYR1c.6599C= (p.Ala2200=)
c.6596C= (p.Ala2199=)
c.51C=
n.6682C=
19g.38496265C>GCA405665795RYR1c.6599C>G (p.Ala2200Gly)
c.6596C>G (p.Ala2199Gly)
c.51C>G
n.6682C>G
 ClinVar dbSNP gnomAD v4
19g.38496265C>TCA024615RYR1c.6599C>T (p.Ala2200Val)
c.6596C>T (p.Ala2199Val)
c.51C>T
n.6682C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38496265dupCA082108RYR1c.6599dup (p.Leu2201AlafsTer?)
c.6596dup (p.Leu2200AlafsTer?)
c.51dup
n.6682dup
19g.38496266G>ACA068464RYR1c.6600G>A (p.Ala2200=)
c.6597G>A (p.Ala2199=)
c.52G>A
n.6683G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38496266G>CCA507353571RYR1c.6600G>C (p.Ala2200=)
c.6597G>C (p.Ala2199=)
c.52G>C
n.6683G>C
19g.38496266G=CA2335051156RYR1c.6600G= (p.Ala2200=)
c.6597G= (p.Ala2199=)
c.52G=
n.6683G=
19g.38496266G>TCA507353572RYR1c.6600G>T (p.Ala2200=)
c.6597G>T (p.Ala2199=)
c.52G>T
n.6683G>T
 gnomAD v4
19g.38496267C>ACA405665801RYR1c.6601C>A (p.Leu2201Met)
c.6598C>A (p.Leu2200Met)
c.53C>A
n.6684C>A
19g.38496267C>GCA405665806RYR1c.6601C>G (p.Leu2201Val)
c.6598C>G (p.Leu2200Val)
c.53C>G
n.6684C>G
19g.38496267C>TCA507353575RYR1c.6601C>T (p.Leu2201=)
c.6598C>T (p.Leu2200=)
c.53C>T
n.6684C>T
 ClinVar gnomAD v4
19g.38496268T>ACA405665808RYR1c.6602T>A (p.Leu2201Gln)
c.6599T>A (p.Leu2200Gln)
c.54T>A
n.6685T>A
19g.38496268T>CCA405665815RYR1c.6602T>C (p.Leu2201Pro)
c.6599T>C (p.Leu2200Pro)
c.54T>C
n.6685T>C
19g.38496268T>GCA405665819RYR1c.6602T>G (p.Leu2201Arg)
c.6599T>G (p.Leu2200Arg)
c.54T>G
n.6685T>G
19g.38496269G>ACA082139RYR1c.6603G>A (p.Leu2201=)
c.6600G>A (p.Leu2200=)
c.55G>A
n.6686G>A
 ClinVar
19g.38496269G>CCA507353580RYR1c.6603G>C (p.Leu2201=)
c.6600G>C (p.Leu2200=)
c.55G>C
n.6686G>C
19g.38496269G>TCA507353581RYR1c.6603G>T (p.Leu2201=)
c.6600G>T (p.Leu2200=)
c.55G>T
n.6686G>T
19g.38496270G>ACA405665827RYR1c.6604G>A (p.Gly2202Ser)
c.6601G>A (p.Gly2201Ser)
c.56G>A
n.6687G>A
19g.38496270G>CCA405665822RYR1c.6604G>C (p.Gly2202Arg)
c.6601G>C (p.Gly2201Arg)
c.56G>C
n.6687G>C
19g.38496270G>TCA405665825RYR1c.6604G>T (p.Gly2202Cys)
c.6601G>T (p.Gly2201Cys)
c.56G>T
n.6687G>T
19g.38496271G>ACA405665831RYR1c.6605G>A (p.Gly2202Asp)
c.6602G>A (p.Gly2201Asp)
c.57G>A
n.6688G>A
19g.38496271G>CCA405665833RYR1c.6605G>C (p.Gly2202Ala)
c.6602G>C (p.Gly2201Ala)
c.57G>C
n.6688G>C
19g.38496271G>TCA405665836RYR1c.6605G>T (p.Gly2202Val)
c.6602G>T (p.Gly2201Val)
c.57G>T
n.6688G>T
19g.38496272C>ACA507353588RYR1c.6606C>A (p.Gly2202=)
c.6603C>A (p.Gly2201=)
c.58C>A
n.6689C>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38496272C=CA2335051157RYR1c.6606C= (p.Gly2202=)
c.6603C= (p.Gly2201=)
c.58C=
n.6689C=
19g.38496272C>GCA507353589RYR1c.6606C>G (p.Gly2202=)
c.6603C>G (p.Gly2201=)
c.58C>G
n.6689C>G
19g.38496272C>TCA507353590RYR1c.6606C>T (p.Gly2202=)
c.6603C>T (p.Gly2201=)
c.58C>T
n.6689C>T
19g.38496273A=CA2335051158RYR1c.6607A= (p.Met2203=)
c.6604A= (p.Met2202=)
c.59A=
n.6690A=
19g.38496273A>CCA405665841RYR1c.6607A>C (p.Met2203Leu)
c.6604A>C (p.Met2202Leu)
c.59A>C
n.6690A>C
19g.38496273A>GCA212055RYR1c.6607A>G (p.Met2203Val)
c.6604A>G (p.Met2202Val)
c.59A>G
n.6690A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38496273A>TCA405665843RYR1c.6607A>T (p.Met2203Leu)
c.6604A>T (p.Met2202Leu)
c.59A>T
n.6690A>T
19g.38496274T>ACA405665846RYR1c.6608T>A (p.Met2203Lys)
c.6605T>A (p.Met2202Lys)
c.60T>A
n.6691T>A
19g.38496274T>CCA405665852RYR1c.6608T>C (p.Met2203Thr)
c.6605T>C (p.Met2202Thr)
c.60T>C
n.6691T>C
 ClinVar gnomAD v4
19g.38496274T>GCA405665849RYR1c.6608T>G (p.Met2203Arg)
c.6605T>G (p.Met2202Arg)
c.60T>G
n.6691T>G
19g.38496275G>ACA405665856RYR1c.6609G>A (p.Met2203Ile)
c.6606G>A (p.Met2202Ile)
c.61G>A
n.6692G>A
 dbSNP gnomAD v4
19g.38496275G>CCA405665857RYR1c.6609G>C (p.Met2203Ile)
c.6606G>C (p.Met2202Ile)
c.61G>C
n.6692G>C
19g.38496275G=CA2335051159RYR1c.6609G= (p.Met2203=)
c.6606G= (p.Met2202=)
c.61G=
n.6692G=
19g.38496275G>TCA405665862RYR1c.6609G>T (p.Met2203Ile)
c.6606G>T (p.Met2202Ile)
c.61G>T
n.6692G>T
19g.38496276C>ACA405665865RYR1c.6610C>A (p.His2204Asn)
c.6607C>A (p.His2203Asn)
c.62C>A
n.6693C>A
19g.38496276C=CA2335051160RYR1c.6610C= (p.His2204=)
c.6607C= (p.His2203=)
c.62C=
n.6693C=
19g.38496276C>GCA405665867RYR1c.6610C>G (p.His2204Asp)
c.6607C>G (p.His2203Asp)
c.62C>G
n.6693C>G
19g.38496276C>TCA308104063RYR1c.6610C>T (p.His2204Tyr)
c.6607C>T (p.His2203Tyr)
c.62C>T
n.6693C>T
 ClinVar dbSNP gnomAD v4
19g.38496277A=CA2335051161RYR1c.6611A= (p.His2204=)
c.6608A= (p.His2203=)
c.63A=
n.6694A=
19g.38496277A>CCA405665872RYR1c.6611A>C (p.His2204Pro)
c.6608A>C (p.His2203Pro)
c.63A>C
n.6694A>C
19g.38496277A>GCA405665875RYR1c.6611A>G (p.His2204Arg)
c.6608A>G (p.His2203Arg)
c.63A>G
n.6694A>G
 ClinVar dbSNP
19g.38496277A>TCA405665881RYR1c.6611A>T (p.His2204Leu)
c.6608A>T (p.His2203Leu)
c.63A>T
n.6694A>T
19g.38496278C>ACA405665883RYR1c.6612C>A (p.His2204Gln)
c.6609C>A (p.His2203Gln)
c.64C>A
n.6695C>A
19g.38496278C=CA2335051162RYR1c.6612C= (p.His2204=)
c.6609C= (p.His2203=)
c.64C=
n.6695C=
19g.38496278C>GCA024617RYR1c.6612C>G (p.His2204Gln)
c.6609C>G (p.His2203Gln)
c.64C>G
n.6695C>G
 ClinVar dbSNP gnomAD v4
19g.38496278C>TCA068469RYR1c.6612C>T (p.His2204=)
c.6609C>T (p.His2203=)
c.64C>T
n.6695C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38496279G>ACA068473RYR1c.6613G>A (p.Glu2205Lys)
c.6610G>A (p.Glu2204Lys)
c.65G>A
n.6696G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38496279G>CCA068477RYR1c.6613G>C (p.Glu2205Gln)
c.6610G>C (p.Glu2204Gln)
c.65G>C
n.6696G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38496279G=CA2335051163RYR1c.6613G= (p.Glu2205=)
c.6610G= (p.Glu2204=)
c.65G=
n.6696G=
19g.38496279G>TCA405665890RYR1c.6613G>T (p.Glu2205Ter)
c.6610G>T (p.Glu2204Ter)
c.65G>T
n.6696G>T
19g.38496280A>CCA405665895RYR1c.6614A>C (p.Glu2205Ala)
c.6611A>C (p.Glu2204Ala)
c.66A>C
n.6697A>C
19g.38496280A>GCA405665898RYR1c.6614A>G (p.Glu2205Gly)
c.6611A>G (p.Glu2204Gly)
c.66A>G
n.6697A>G
19g.38496280A>TCA405665900RYR1c.6614A>T (p.Glu2205Val)
c.6611A>T (p.Glu2204Val)
c.66A>T
n.6697A>T
19g.38496281G>ACA068478RYR1c.6615G>A (p.Glu2205=)
c.6612G>A (p.Glu2204=)
c.67G>A
n.6698G>A
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
19g.38496281G>CCA405665903RYR1c.6615G>C (p.Glu2205Asp)
c.6612G>C (p.Glu2204Asp)
c.67G>C
n.6698G>C
 ClinVar
19g.38496281G=CA2335051164RYR1c.6615G= (p.Glu2205=)
c.6612G= (p.Glu2204=)
c.67G=
n.6698G=
19g.38496281G>TCA405665906RYR1c.6615G>T (p.Glu2205Asp)
c.6612G>T (p.Glu2204Asp)
c.67G>T
n.6698G>T
19g.38496282A>CCA405665909RYR1c.6616A>C (p.Thr2206Pro)
c.6613A>C (p.Thr2205Pro)
c.68A>C
n.6699A>C
19g.38496282A>GCA405665912RYR1c.6616A>G (p.Thr2206Ala)
c.6613A>G (p.Thr2205Ala)
c.68A>G
n.6699A>G
19g.38496282A>TCA405665914RYR1c.6616A>T (p.Thr2206Ser)
c.6613A>T (p.Thr2205Ser)
c.68A>T
n.6699A>T
19g.38496283C>ACA405665917RYR1c.6617C>A (p.Thr2206Lys)
c.6614C>A (p.Thr2205Lys)
c.69C>A
n.6700C>A
19g.38496283C=CA2335051165RYR1c.6617C= (p.Thr2206=)
c.6614C= (p.Thr2205=)
c.69C=
n.6700C=
19g.38496283C>GCA024620RYR1c.6617C>G (p.Thr2206Arg)
c.6614C>G (p.Thr2205Arg)
c.69C>G
n.6700C>G
 ClinVar dbSNP
19g.38496283C>TCA024622RYR1c.6617C>T (p.Thr2206Met)
c.6614C>T (p.Thr2205Met)
c.69C>T
n.6700C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38496284G>ACA068486RYR1c.6618G>A (p.Thr2206=)
c.6615G>A (p.Thr2205=)
c.70G>A
n.6701G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38496284G>CCA507353611RYR1c.6618G>C (p.Thr2206=)
c.6615G>C (p.Thr2205=)
c.70G>C
n.6701G>C
19g.38496284G=CA2335051166RYR1c.6618G= (p.Thr2206=)
c.6615G= (p.Thr2205=)
c.70G=
n.6701G=
19g.38496284G>TCA507353612RYR1c.6618G>T (p.Thr2206=)
c.6615G>T (p.Thr2205=)
c.70G>T
n.6701G>T
19g.38496285delCA2573054754RYR1c.6619del (p.Val2207SerfsTer23)
c.6616del (p.Val2206SerfsTer23)
c.71del
n.6702del
 ClinVar dbSNP
19g.38496285G>ACA405665925RYR1c.6619G>A (p.Val2207Ile)
c.6616G>A (p.Val2206Ile)
c.71G>A
n.6702G>A
19g.38496285G>CCA405665921RYR1c.6619G>C (p.Val2207Leu)
c.6616G>C (p.Val2206Leu)
c.71G>C
n.6702G>C
19g.38496285G>TCA405665922RYR1c.6619G>T (p.Val2207Phe)
c.6616G>T (p.Val2206Phe)
c.71G>T
n.6702G>T
19g.38496286T>ACA405665927RYR1c.6620T>A (p.Val2207Asp)
c.6617T>A (p.Val2206Asp)
c.72T>A
n.6703T>A
19g.38496286T>CCA405665930RYR1c.6620T>C (p.Val2207Ala)
c.6617T>C (p.Val2206Ala)
c.72T>C
n.6703T>C
19g.38496286T>GCA405665931RYR1c.6620T>G (p.Val2207Gly)
c.6617T>G (p.Val2206Gly)
c.72T>G
n.6703T>G
19g.38496287C>ACA507353614RYR1c.6621C>A (p.Val2207=)
c.6618C>A (p.Val2206=)
c.73C>A
n.6704C>A
19g.38496287C>GCA507353616RYR1c.6621C>G (p.Val2207=)
c.6618C>G (p.Val2206=)
c.73C>G
n.6704C>G
19g.38496287C>TCA507353615RYR1c.6621C>T (p.Val2207=)
c.6618C>T (p.Val2206=)
c.73C>T
n.6704C>T
19g.38496288A=CA2335051167RYR1c.6622A= (p.Met2208=)
c.6619A= (p.Met2207=)
c.74A=
n.6705A=
19g.38496288A>CCA405665934RYR1c.6622A>C (p.Met2208Leu)
c.6619A>C (p.Met2207Leu)
c.74A>C
n.6705A>C
19g.38496288A>GCA405665936RYR1c.6622A>G (p.Met2208Val)
c.6619A>G (p.Met2207Val)
c.74A>G
n.6705A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38496288A>TCA405665938RYR1c.6622A>T (p.Met2208Leu)
c.6619A>T (p.Met2207Leu)
c.74A>T
n.6705A>T
19g.38496289T>ACA405665941RYR1c.6623T>A (p.Met2208Lys)
c.6620T>A (p.Met2207Lys)
c.75T>A
n.6706T>A
19g.38496289T>CCA405665942RYR1c.6623T>C (p.Met2208Thr)
c.6620T>C (p.Met2207Thr)
c.75T>C
n.6706T>C
 dbSNP gnomAD v2 gnomAD v4
19g.38496289T>GCA405665944RYR1c.6623T>G (p.Met2208Arg)
c.6620T>G (p.Met2207Arg)
c.75T>G
n.6706T>G
19g.38496289T=CA2335051168RYR1c.6623T= (p.Met2208=)
c.6620T= (p.Met2207=)
c.75T=
n.6706T=
19g.38496290G>ACA405665946RYR1c.6624G>A (p.Met2208Ile)
c.6621G>A (p.Met2207Ile)
c.76G>A
n.6707G>A
 gnomAD v4
19g.38496290G>CCA405665949RYR1c.6624G>C (p.Met2208Ile)
c.6621G>C (p.Met2207Ile)
c.76G>C
n.6707G>C
19g.38496290G>TCA405665950RYR1c.6624G>T (p.Met2208Ile)
c.6621G>T (p.Met2207Ile)
c.76G>T
n.6707G>T
19g.38496291G>ACA405665953RYR1c.6625G>A (p.Glu2209Lys)
c.6622G>A (p.Glu2208Lys)
c.77G>A
n.6708G>A
19g.38496291G>CCA405665958RYR1c.6625G>C (p.Glu2209Gln)
c.6622G>C (p.Glu2208Gln)
c.77G>C
n.6708G>C
19g.38496291G>TCA405665955RYR1c.6625G>T (p.Glu2209Ter)
c.6622G>T (p.Glu2208Ter)
c.77G>T
n.6708G>T
19g.38496292A>CCA405665960RYR1c.6626A>C (p.Glu2209Ala)
c.6623A>C (p.Glu2208Ala)
c.78A>C
n.6709A>C
19g.38496292A>GCA405665964RYR1c.6626A>G (p.Glu2209Gly)
c.6623A>G (p.Glu2208Gly)
c.78A>G
n.6709A>G
19g.38496292A>TCA405665962RYR1c.6626A>T (p.Glu2209Val)
c.6623A>T (p.Glu2208Val)
c.78A>T
n.6709A>T
19g.38496293G>ACA068489RYR1c.6627G>A (p.Glu2209=)
c.6624G>A (p.Glu2208=)
c.79G>A
n.6710G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38496293G>CCA405665968RYR1c.6627G>C (p.Glu2209Asp)
c.6624G>C (p.Glu2208Asp)
c.79G>C
n.6710G>C
19g.38496293G=CA2335051169RYR1c.6627G= (p.Glu2209=)
c.6624G= (p.Glu2208=)
c.79G=
n.6710G=
19g.38496293G>TCA405665969RYR1c.6627G>T (p.Glu2209Asp)
c.6624G>T (p.Glu2208Asp)
c.79G>T
n.6710G>T
19g.38496294G>ACA405665972RYR1c.6628G>A (p.Val2210Ile)
c.6625G>A (p.Val2209Ile)
c.80G>A
n.6711G>A
 ClinVar gnomAD v4
19g.38496294G>CCA405665975RYR1c.6628G>C (p.Val2210Leu)
c.6625G>C (p.Val2209Leu)
c.80G>C
n.6711G>C
 ClinVar dbSNP gnomAD v4
19g.38496294G=CA2335051170RYR1c.6628G= (p.Val2210=)
c.6625G= (p.Val2209=)
c.80G=
n.6711G=
19g.38496294G>TCA024625RYR1c.6628G>T (p.Val2210Phe)
c.6625G>T (p.Val2209Phe)
c.80G>T
n.6711G>T
 ClinVar dbSNP

Number of alleles fetched