Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38512074A=CA2335059513RYR1c.9173-171A= (n.9173-171A=)
c.9175A= (p.Thr3059=)
c.9172A= (p.Thr3058=)
c.2577A=
c.41-171A=
n.9208A=
19g.38512074A>CCA405685290RYR1c.9173-171A>C (n.9173-171A>C)
c.9175A>C (p.Thr3059Pro)
c.9172A>C (p.Thr3058Pro)
c.2577A>C
c.41-171A>C
n.9208A>C
19g.38512074A>GCA405685295RYR1c.9173-171A>G (n.9173-171A>G)
c.9175A>G (p.Thr3059Ala)
c.9172A>G (p.Thr3058Ala)
c.2577A>G
c.41-171A>G
n.9208A>G
19g.38512074A>TCA405685287RYR1c.9173-171A>T (n.9173-171A>T)
c.9175A>T (p.Thr3059Ser)
c.9172A>T (p.Thr3058Ser)
c.2577A>T
c.41-171A>T
n.9208A>T
 dbSNP gnomAD v4
19g.38512075C>ACA405685307RYR1c.9173-170C>A (n.9173-170C>A)
c.9176C>A (p.Thr3059Lys)
c.9173C>A (p.Thr3058Lys)
c.2578C>A
c.41-170C>A
n.9209C>A
19g.38512075C=CA2335059514RYR1c.9173-170C= (n.9173-170C=)
c.9176C= (p.Thr3059=)
c.9173C= (p.Thr3058=)
c.2578C=
c.41-170C=
n.9209C=
19g.38512075C>GCA405685298RYR1c.9173-170C>G (n.9173-170C>G)
c.9176C>G (p.Thr3059Arg)
c.9173C>G (p.Thr3058Arg)
c.2578C>G
c.41-170C>G
n.9209C>G
19g.38512075C>TCA405685300RYR1c.9173-170C>T (n.9173-170C>T)
c.9176C>T (p.Thr3059Ile)
c.9173C>T (p.Thr3058Ile)
c.2578C>T
c.41-170C>T
n.9209C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38512076A>CCA507354177RYR1c.9173-169A>C (n.9173-169A>C)
c.9177A>C (p.Thr3059=)
c.9174A>C (p.Thr3058=)
c.2579A>C
c.41-169A>C
n.9210A>C
19g.38512076A>GCA507354179RYR1c.9173-169A>G (n.9173-169A>G)
c.9177A>G (p.Thr3059=)
c.9174A>G (p.Thr3058=)
c.2579A>G
c.41-169A>G
n.9210A>G
 dbSNP
19g.38512076A>TCA507354178RYR1c.9173-169A>T (n.9173-169A>T)
c.9177A>T (p.Thr3059=)
c.9174A>T (p.Thr3058=)
c.2579A>T
c.41-169A>T
n.9210A>T
19g.38512077G>ACA405685309RYR1c.9173-168G>A (n.9173-168G>A)
c.9178G>A (p.Asp3060Asn)
c.9175G>A (p.Asp3059Asn)
c.2580G>A
c.41-168G>A
n.9211G>A
19g.38512077G>CCA405685312RYR1c.9173-168G>C (n.9173-168G>C)
c.9178G>C (p.Asp3060His)
c.9175G>C (p.Asp3059His)
c.2580G>C
c.41-168G>C
n.9211G>C
 dbSNP
19g.38512077G>TCA405685322RYR1c.9173-168G>T (n.9173-168G>T)
c.9178G>T (p.Asp3060Tyr)
c.9175G>T (p.Asp3059Tyr)
c.2580G>T
c.41-168G>T
n.9211G>T
19g.38512078A>CCA405685330RYR1c.9173-167A>C (n.9173-167A>C)
c.9179A>C (p.Asp3060Ala)
c.9176A>C (p.Asp3059Ala)
c.2581A>C
c.41-167A>C
n.9212A>C
19g.38512078A>GCA405685329RYR1c.9173-167A>G (n.9173-167A>G)
c.9179A>G (p.Asp3060Gly)
c.9176A>G (p.Asp3059Gly)
c.2581A>G
c.41-167A>G
n.9212A>G
19g.38512078A>TCA405685327RYR1c.9173-167A>T (n.9173-167A>T)
c.9179A>T (p.Asp3060Val)
c.9176A>T (p.Asp3059Val)
c.2581A>T
c.41-167A>T
n.9212A>T
19g.38512079C>ACA405685333RYR1c.9173-166C>A (n.9173-166C>A)
c.9180C>A (p.Asp3060Glu)
c.9177C>A (p.Asp3059Glu)
c.2582C>A
c.41-166C>A
n.9213C>A
19g.38512079C=CA2335059515RYR1c.9173-166C= (n.9173-166C=)
c.9180C= (p.Asp3060=)
c.9177C= (p.Asp3059=)
c.2582C=
c.41-166C=
n.9213C=
19g.38512079C>GCA405685334RYR1c.9173-166C>G (n.9173-166C>G)
c.9180C>G (p.Asp3060Glu)
c.9177C>G (p.Asp3059Glu)
c.2582C>G
c.41-166C>G
n.9213C>G
19g.38512079C>TCA073341RYR1c.9173-166C>T (n.9173-166C>T)
c.9180C>T (p.Asp3060=)
c.9177C>T (p.Asp3059=)
c.2582C>T
c.41-166C>T
n.9213C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38512080G>ACA073344RYR1c.9173-165G>A (n.9173-165G>A)
c.9181G>A (p.Ala3061Thr)
c.9178G>A (p.Ala3060Thr)
c.2583G>A
c.41-165G>A
n.9214G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38512080G>CCA405685336RYR1c.9173-165G>C (n.9173-165G>C)
c.9181G>C (p.Ala3061Pro)
c.9178G>C (p.Ala3060Pro)
c.2583G>C
c.41-165G>C
n.9214G>C
19g.38512080G=CA2335059517RYR1c.9173-165G= (n.9173-165G=)
c.9181G= (p.Ala3061=)
c.9178G= (p.Ala3060=)
c.2583G=
c.41-165G=
n.9214G=
19g.38512080G>TCA405685341RYR1c.9173-165G>T (n.9173-165G>T)
c.9181G>T (p.Ala3061Ser)
c.9178G>T (p.Ala3060Ser)
c.2583G>T
c.41-165G>T
n.9214G>T
19g.38512080dupCA2335059516RYR1c.9173-165dup (n.9173-165dup)
c.9181dup (p.Ala3061GlyfsTer26)
c.9178dup (p.Ala3060GlyfsTer26)
c.2583dup
c.41-165dup
n.9214dup
 dbSNP
19g.38512081C>ACA405685343RYR1c.9173-164C>A (n.9173-164C>A)
c.9182C>A (p.Ala3061Asp)
c.9179C>A (p.Ala3060Asp)
c.2584C>A
c.41-164C>A
n.9215C>A
19g.38512081C>GCA405685347RYR1c.9173-164C>G (n.9173-164C>G)
c.9182C>G (p.Ala3061Gly)
c.9179C>G (p.Ala3060Gly)
c.2584C>G
c.41-164C>G
n.9215C>G
19g.38512081C>TCA405685346RYR1c.9173-164C>T (n.9173-164C>T)
c.9182C>T (p.Ala3061Val)
c.9179C>T (p.Ala3060Val)
c.2584C>T
c.41-164C>T
n.9215C>T
 COSMIC
19g.38512082C>ACA507354183RYR1c.9173-163C>A (n.9173-163C>A)
c.9183C>A (p.Ala3061=)
c.9180C>A (p.Ala3060=)
c.2585C>A
c.41-163C>A
n.9216C>A
19g.38512082C=CA2335059518RYR1c.9173-163C= (n.9173-163C=)
c.9183C= (p.Ala3061=)
c.9180C= (p.Ala3060=)
c.2585C=
c.41-163C=
n.9216C=
19g.38512082C>GCA507354184RYR1c.9173-163C>G (n.9173-163C>G)
c.9183C>G (p.Ala3061=)
c.9180C>G (p.Ala3060=)
c.2585C>G
c.41-163C>G
n.9216C>G
19g.38512082C>TCA073348RYR1c.9173-163C>T (n.9173-163C>T)
c.9183C>T (p.Ala3061=)
c.9180C>T (p.Ala3060=)
c.2585C>T
c.41-163C>T
n.9216C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38512083C>ACA405685348RYR1c.9173-162C>A (n.9173-162C>A)
c.9184C>A (p.Pro3062Thr)
c.9181C>A (p.Pro3061Thr)
c.2586C>A
c.41-162C>A
n.9217C>A
19g.38512083C=CA2335059519RYR1c.9173-162C= (n.9173-162C=)
c.9184C= (p.Pro3062=)
c.9181C= (p.Pro3061=)
c.2586C=
c.41-162C=
n.9217C=
19g.38512083C>GCA405685349RYR1c.9173-162C>G (n.9173-162C>G)
c.9184C>G (p.Pro3062Ala)
c.9181C>G (p.Pro3061Ala)
c.2586C>G
c.41-162C>G
n.9217C>G
 gnomAD v4
19g.38512083C>TCA405685350RYR1c.9173-162C>T (n.9173-162C>T)
c.9184C>T (p.Pro3062Ser)
c.9181C>T (p.Pro3061Ser)
c.2586C>T
c.41-162C>T
n.9217C>T
 dbSNP gnomAD v4
19g.38512084C>ACA405685353RYR1c.9173-161C>A (n.9173-161C>A)
c.9185C>A (p.Pro3062Gln)
c.9182C>A (p.Pro3061Gln)
c.2587C>A
c.41-161C>A
n.9218C>A
19g.38512084C=CA2335059520RYR1c.9173-161C= (n.9173-161C=)
c.9185C= (p.Pro3062=)
c.9182C= (p.Pro3061=)
c.2587C=
c.41-161C=
n.9218C=
19g.38512084C>GCA405685355RYR1c.9173-161C>G (n.9173-161C>G)
c.9185C>G (p.Pro3062Arg)
c.9182C>G (p.Pro3061Arg)
c.2587C>G
c.41-161C>G
n.9218C>G
19g.38512084C>TCA405685359RYR1c.9173-161C>T (n.9173-161C>T)
c.9185C>T (p.Pro3062Leu)
c.9182C>T (p.Pro3061Leu)
c.2587C>T
c.41-161C>T
n.9218C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38512085A=CA2335059521RYR1c.9173-160A= (n.9173-160A=)
c.9186A= (p.Pro3062=)
c.9183A= (p.Pro3061=)
c.2588A=
c.41-160A=
n.9219A=
19g.38512085A>CCA507354188RYR1c.9173-160A>C (n.9173-160A>C)
c.9186A>C (p.Pro3062=)
c.9183A>C (p.Pro3061=)
c.2588A>C
c.41-160A>C
n.9219A>C
19g.38512085A>GCA024969RYR1c.9173-160A>G (n.9173-160A>G)
c.9186A>G (p.Pro3062=)
c.9183A>G (p.Pro3061=)
c.2588A>G
c.41-160A>G
n.9219A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38512085A>TCA507354187RYR1c.9173-160A>T (n.9173-160A>T)
c.9186A>T (p.Pro3062=)
c.9183A>T (p.Pro3061=)
c.2588A>T
c.41-160A>T
n.9219A>T
19g.38512086G>ACA405685369RYR1c.9173-159G>A (n.9173-159G>A)
c.9187G>A (p.Ala3063Thr)
c.9184G>A (p.Ala3062Thr)
c.2589G>A
c.41-159G>A
n.9220G>A
 dbSNP gnomAD v2 gnomAD v4
19g.38512086G>CCA405685371RYR1c.9173-159G>C (n.9173-159G>C)
c.9187G>C (p.Ala3063Pro)
c.9184G>C (p.Ala3062Pro)
c.2589G>C
c.41-159G>C
n.9220G>C
 gnomAD v4
19g.38512086G=CA2335059522RYR1c.9173-159G= (n.9173-159G=)
c.9187G= (p.Ala3063=)
c.9184G= (p.Ala3062=)
c.2589G=
c.41-159G=
n.9220G=
19g.38512086G>TCA405685375RYR1c.9173-159G>T (n.9173-159G>T)
c.9187G>T (p.Ala3063Ser)
c.9184G>T (p.Ala3062Ser)
c.2589G>T
c.41-159G>T
n.9220G>T
19g.38512087C>ACA405685382RYR1c.9173-158C>A (n.9173-158C>A)
c.9188C>A (p.Ala3063Asp)
c.9185C>A (p.Ala3062Asp)
c.2590C>A
c.41-158C>A
n.9221C>A
 dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched