Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38485931G>ACA066838RYR1c.5276G>A (p.Arg1759Gln)
c.5273G>A (p.Arg1758Gln)
n.5359G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38485931G>CCA308093475RYR1c.5276G>C (p.Arg1759Pro)
c.5273G>C (p.Arg1758Pro)
n.5359G>C
dbSNP gnomAD v3 gnomAD v4
19g.38485931G=CA2335046323RYR1c.5276G= (p.Arg1759=)
c.5273G= (p.Arg1758=)
n.5359G=
19g.38485931G>TCA405654395RYR1c.5276G>T (p.Arg1759Leu)
c.5273G>T (p.Arg1758Leu)
n.5359G>T
gnomAD v4
19g.38485932G>ACA507353344RYR1c.5277G>A (p.Arg1759=)
c.5274G>A (p.Arg1758=)
n.5360G>A
ClinVar dbSNP
19g.38485932G>CCA507353345RYR1c.5277G>C (p.Arg1759=)
c.5274G>C (p.Arg1758=)
n.5360G>C
19g.38485932G>TCA507353346RYR1c.5277G>T (p.Arg1759=)
c.5274G>T (p.Arg1758=)
n.5360G>T
19g.38485933C>ACA405654399RYR1c.5278C>A (p.His1760Asn)
c.5275C>A (p.His1759Asn)
n.5361C>A
COSMIC
19g.38485933C=CA2335046324RYR1c.5278C= (p.His1760=)
c.5275C= (p.His1759=)
n.5361C=
19g.38485933C>GCA405654402RYR1c.5278C>G (p.His1760Asp)
c.5275C>G (p.His1759Asp)
n.5361C>G
19g.38485933C>TCA066844RYR1c.5278C>T (p.His1760Tyr)
c.5275C>T (p.His1759Tyr)
n.5361C>T
dbSNP ExAC gnomAD v2 gnomAD v4
19g.38485934A=CA2335046325RYR1c.5279A= (p.His1760=)
c.5276A= (p.His1759=)
n.5362A=
19g.38485934A>CCA405654406RYR1c.5279A>C (p.His1760Pro)
c.5276A>C (p.His1759Pro)
n.5362A>C
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38485934A>GCA066848RYR1c.5279A>G (p.His1760Arg)
c.5276A>G (p.His1759Arg)
n.5362A>G
dbSNP ExAC gnomAD v2 gnomAD v4
19g.38485934A>TCA066849RYR1c.5279A>T (p.His1760Leu)
c.5276A>T (p.His1759Leu)
n.5362A>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38485935T>ACA405654422RYR1c.5280T>A (p.His1760Gln)
c.5277T>A (p.His1759Gln)
n.5363T>A
19g.38485935T>CCA507353348RYR1c.5280T>C (p.His1760=)
c.5277T>C (p.His1759=)
n.5363T>C
19g.38485935T>GCA405654420RYR1c.5280T>G (p.His1760Gln)
c.5277T>G (p.His1759Gln)
n.5363T>G
19g.38485936G>ACA308093518RYR1c.5281G>A (p.Gly1761Ser)
c.5278G>A (p.Gly1760Ser)
n.5364G>A
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38485936G>CCA405654433RYR1c.5281G>C (p.Gly1761Arg)
c.5278G>C (p.Gly1760Arg)
n.5364G>C
19g.38485936G=CA2335046326RYR1c.5281G= (p.Gly1761=)
c.5278G= (p.Gly1760=)
n.5364G=
19g.38485936G>TCA405654430RYR1c.5281G>T (p.Gly1761Cys)
c.5278G>T (p.Gly1760Cys)
n.5364G>T
gnomAD v4
19g.38485937G>ACA405654436RYR1c.5282G>A (p.Gly1761Asp)
c.5279G>A (p.Gly1760Asp)
n.5365G>A
ClinVar gnomAD v2 gnomAD v4
19g.38485937G>CCA405654441RYR1c.5282G>C (p.Gly1761Ala)
c.5279G>C (p.Gly1760Ala)
n.5365G>C
19g.38485937G>TCA405654438RYR1c.5282G>T (p.Gly1761Val)
c.5279G>T (p.Gly1760Val)
n.5365G>T
gnomAD v4
19g.38485938C>ACA507353350RYR1c.5283C>A (p.Gly1761=)
c.5280C>A (p.Gly1760=)
n.5366C>A
19g.38485938C=CA2335046327RYR1c.5283C= (p.Gly1761=)
c.5280C= (p.Gly1760=)
n.5366C=
19g.38485938C>GCA507353351RYR1c.5283C>G (p.Gly1761=)
c.5280C>G (p.Gly1760=)
n.5366C>G
ClinVar gnomAD v4
19g.38485938C>TCA066853RYR1c.5283C>T (p.Gly1761=)
c.5280C>T (p.Gly1760=)
n.5366C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38485939C>ACA405654447RYR1c.5284C>A (p.Leu1762Met)
c.5281C>A (p.Leu1761Met)
n.5367C>A
gnomAD v4
19g.38485939C>GCA405654448RYR1c.5284C>G (p.Leu1762Val)
c.5281C>G (p.Leu1761Val)
n.5367C>G
19g.38485939C>TCA507353353RYR1c.5284C>T (p.Leu1762=)
c.5281C>T (p.Leu1761=)
n.5367C>T
gnomAD v4
19g.38485940T>ACA405654450RYR1c.5285T>A (p.Leu1762Gln)
c.5282T>A (p.Leu1761Gln)
n.5368T>A
19g.38485940T>CCA405654452RYR1c.5285T>C (p.Leu1762Pro)
c.5282T>C (p.Leu1761Pro)
n.5368T>C
19g.38485940T>GCA405654455RYR1c.5285T>G (p.Leu1762Arg)
c.5282T>G (p.Leu1761Arg)
n.5368T>G
19g.38485941G>ACA507353355RYR1c.5286G>A (p.Leu1762=)
c.5283G>A (p.Leu1761=)
n.5369G>A
19g.38485941G>CCA507353357RYR1c.5286G>C (p.Leu1762=)
c.5283G>C (p.Leu1761=)
n.5369G>C
ClinVar dbSNP gnomAD v4
19g.38485941G=CA2335046328RYR1c.5286G= (p.Leu1762=)
c.5283G= (p.Leu1761=)
n.5369G=
19g.38485941G>TCA507353356RYR1c.5286G>T (p.Leu1762=)
c.5283G>T (p.Leu1761=)
n.5369G>T
19g.38485942C>ACA405654459RYR1c.5287C>A (p.Pro1763Thr)
c.5284C>A (p.Pro1762Thr)
n.5370C>A
19g.38485942C=CA2335046329RYR1c.5287C= (p.Pro1763=)
c.5284C= (p.Pro1762=)
n.5370C=
19g.38485942C>GCA405654461RYR1c.5287C>G (p.Pro1763Ala)
c.5284C>G (p.Pro1762Ala)
n.5370C>G
19g.38485942C>TCA066855RYR1c.5287C>T (p.Pro1763Ser)
c.5284C>T (p.Pro1762Ser)
n.5370C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38485943C>ACA405654467RYR1c.5288C>A (p.Pro1763Gln)
c.5285C>A (p.Pro1762Gln)
n.5371C>A
19g.38485943C=CA2335046330RYR1c.5288C= (p.Pro1763=)
c.5285C= (p.Pro1762=)
n.5371C=
19g.38485943C>GCA405654469RYR1c.5288C>G (p.Pro1763Arg)
c.5285C>G (p.Pro1762Arg)
n.5371C>G
19g.38485943C>TCA405654473RYR1c.5288C>T (p.Pro1763Leu)
c.5285C>T (p.Pro1762Leu)
n.5371C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38485944G>ACA066858RYR1c.5289G>A (p.Pro1763=)
c.5286G>A (p.Pro1762=)
n.5372G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38485944G>CCA066863RYR1c.5289G>C (p.Pro1763=)
c.5286G>C (p.Pro1762=)
n.5372G>C
dbSNP ExAC gnomAD v2 gnomAD v4
19g.38485944G=CA2335046331RYR1c.5289G= (p.Pro1763=)
c.5286G= (p.Pro1762=)
n.5372G=
19g.38485944G>TCA507353359RYR1c.5289G>T (p.Pro1763=)
c.5286G>T (p.Pro1762=)
n.5372G>T
19g.38485945G>ACA405654481RYR1c.5290G>A (p.Gly1764Arg)
c.5287G>A (p.Gly1763Arg)
n.5373G>A
dbSNP gnomAD v2 gnomAD v4
19g.38485945G>CCA405654483RYR1c.5290G>C (p.Gly1764Arg)
c.5287G>C (p.Gly1763Arg)
n.5373G>C
19g.38485945G=CA2335046332RYR1c.5290G= (p.Gly1764=)
c.5287G= (p.Gly1763=)
n.5373G=
19g.38485945G>TCA405654487RYR1c.5290G>T (p.Gly1764Ter)
c.5287G>T (p.Gly1763Ter)
n.5373G>T
dbSNP gnomAD v2
19g.38485946G>ACA405654490RYR1c.5291G>A (p.Gly1764Glu)
c.5288G>A (p.Gly1763Glu)
n.5374G>A
19g.38485946G>CCA405654493RYR1c.5291G>C (p.Gly1764Ala)
c.5288G>C (p.Gly1763Ala)
n.5374G>C
19g.38485946G>TCA405654495RYR1c.5291G>T (p.Gly1764Val)
c.5288G>T (p.Gly1763Val)
n.5374G>T
gnomAD v4
19g.38485947A>CCA507353360RYR1c.5292A>C (p.Gly1764=)
c.5289A>C (p.Gly1763=)
n.5375A>C
19g.38485947A>GCA507353361RYR1c.5292A>G (p.Gly1764=)
c.5289A>G (p.Gly1763=)
n.5375A>G
19g.38485947A>TCA507353362RYR1c.5292A>T (p.Gly1764=)
c.5289A>T (p.Gly1763=)
n.5375A>T
19g.38485948G>ACA405654498RYR1c.5293G>A (p.Val1765Ile)
c.5290G>A (p.Val1764Ile)
n.5376G>A
gnomAD v4 COSMIC
19g.38485948G>CCA405654501RYR1c.5293G>C (p.Val1765Leu)
c.5290G>C (p.Val1764Leu)
n.5376G>C
19g.38485948G>TCA405654503RYR1c.5293G>T (p.Val1765Phe)
c.5290G>T (p.Val1764Phe)
n.5376G>T
19g.38485949T>ACA405654506RYR1c.5294T>A (p.Val1765Asp)
c.5291T>A (p.Val1764Asp)
n.5377T>A
19g.38485949T>CCA405654509RYR1c.5294T>C (p.Val1765Ala)
c.5291T>C (p.Val1764Ala)
n.5377T>C
gnomAD v4
19g.38485949T>GCA405654512RYR1c.5294T>G (p.Val1765Gly)
c.5291T>G (p.Val1764Gly)
n.5377T>G
19g.38485950T>ACA507353364RYR1c.5295T>A (p.Val1765=)
c.5292T>A (p.Val1764=)
n.5378T>A
dbSNP
19g.38485950T>CCA507353365RYR1c.5295T>C (p.Val1765=)
c.5292T>C (p.Val1764=)
n.5378T>C
gnomAD v4
19g.38485950T>GCA507353363RYR1c.5295T>G (p.Val1765=)
c.5292T>G (p.Val1764=)
n.5378T>G
19g.38485951G>ACA405654516RYR1c.5296G>A (p.Gly1766Arg)
c.5293G>A (p.Gly1765Arg)
n.5379G>A
19g.38485951G>CCA405654521RYR1c.5296G>C (p.Gly1766Arg)
c.5293G>C (p.Gly1765Arg)
n.5379G>C
19g.38485951G>TCA405654519RYR1c.5296G>T (p.Gly1766Ter)
c.5293G>T (p.Gly1765Ter)
n.5379G>T
19g.38485952G>ACA405654526RYR1c.5297G>A (p.Gly1766Glu)
c.5294G>A (p.Gly1765Glu)
n.5380G>A
gnomAD v4
19g.38485952G>CCA405654528RYR1c.5297G>C (p.Gly1766Ala)
c.5294G>C (p.Gly1765Ala)
n.5380G>C
ClinVar gnomAD v4 COSMIC
19g.38485952G>TCA405654531RYR1c.5297G>T (p.Gly1766Val)
c.5294G>T (p.Gly1765Val)
n.5380G>T
19g.38485953A>CCA507353366RYR1c.5298A>C (p.Gly1766=)
c.5295A>C (p.Gly1765=)
n.5381A>C
19g.38485953A>GCA507353367RYR1c.5298A>G (p.Gly1766=)
c.5295A>G (p.Gly1765=)
n.5381A>G
19g.38485953A>TCA507353368RYR1c.5298A>T (p.Gly1766=)
c.5295A>T (p.Gly1765=)
n.5381A>T
19g.38485954G>ACA405654535RYR1c.5299G>A (p.Val1767Ile)
c.5296G>A (p.Val1766Ile)
n.5382G>A
19g.38485954G>CCA405654539RYR1c.5299G>C (p.Val1767Leu)
c.5296G>C (p.Val1766Leu)
n.5382G>C
19g.38485954G>TCA405654540RYR1c.5299G>T (p.Val1767Phe)
c.5296G>T (p.Val1766Phe)
n.5382G>T
gnomAD v4
19g.38485955T>ACA405654543RYR1c.5300T>A (p.Val1767Asp)
c.5297T>A (p.Val1766Asp)
n.5383T>A
19g.38485955T>CCA405654545RYR1c.5300T>C (p.Val1767Ala)
c.5297T>C (p.Val1766Ala)
n.5383T>C
19g.38485955T>GCA405654547RYR1c.5300T>G (p.Val1767Gly)
c.5297T>G (p.Val1766Gly)
n.5383T>G
19g.38485956C>ACA507353369RYR1c.5301C>A (p.Val1767=)
c.5298C>A (p.Val1766=)
n.5384C>A
gnomAD v4
19g.38485956C=CA2335046333RYR1c.5301C= (p.Val1767=)
c.5298C= (p.Val1766=)
n.5384C=
19g.38485956C>GCA507353370RYR1c.5301C>G (p.Val1767=)
c.5298C>G (p.Val1766=)
n.5384C>G
dbSNP gnomAD v3 gnomAD v4
19g.38485956C>TCA507353371RYR1c.5301C>T (p.Val1767=)
c.5298C>T (p.Val1766=)
n.5384C>T
dbSNP gnomAD v2 gnomAD v4
19g.38485957A>CCA405654550RYR1c.5302A>C (p.Thr1768Pro)
c.5299A>C (p.Thr1767Pro)
n.5385A>C
19g.38485957A>GCA405654553RYR1c.5302A>G (p.Thr1768Ala)
c.5299A>G (p.Thr1767Ala)
n.5385A>G
19g.38485957A>TCA405654556RYR1c.5302A>T (p.Thr1768Ser)
c.5299A>T (p.Thr1767Ser)
n.5385A>T
19g.38485958C>ACA405654565RYR1c.5303C>A (p.Thr1768Asn)
c.5300C>A (p.Thr1767Asn)
n.5386C>A
19g.38485958C=CA2335046334RYR1c.5303C= (p.Thr1768=)
c.5300C= (p.Thr1767=)
n.5386C=
19g.38485958C>GCA405654560RYR1c.5303C>G (p.Thr1768Ser)
c.5300C>G (p.Thr1767Ser)
n.5386C>G
19g.38485958C>TCA405654563RYR1c.5303C>T (p.Thr1768Ile)
c.5300C>T (p.Thr1767Ile)
n.5386C>T
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38485959C>ACA507353372RYR1c.5304C>A (p.Thr1768=)
c.5301C>A (p.Thr1767=)
n.5387C>A
19g.38485959C>GCA507353373RYR1c.5304C>G (p.Thr1768=)
c.5301C>G (p.Thr1767=)
n.5387C>G
19g.38485959C>TCA507353374RYR1c.5304C>T (p.Thr1768=)
c.5301C>T (p.Thr1767=)
n.5387C>T
gnomAD v4
19g.38485960A>CCA405654567RYR1c.5305A>C (p.Thr1769Pro)
c.5302A>C (p.Thr1768Pro)
n.5388A>C
gnomAD v4
19g.38485960A>GCA405654570RYR1c.5305A>G (p.Thr1769Ala)
c.5302A>G (p.Thr1768Ala)
n.5388A>G
19g.38485960A>TCA405654573RYR1c.5305A>T (p.Thr1769Ser)
c.5302A>T (p.Thr1768Ser)
n.5388A>T
19g.38485961C>ACA405654575RYR1c.5306C>A (p.Thr1769Asn)
c.5303C>A (p.Thr1768Asn)
n.5389C>A
19g.38485961C=CA2335046335RYR1c.5306C= (p.Thr1769=)
c.5303C= (p.Thr1768=)
n.5389C=
19g.38485961C>GCA405654576RYR1c.5306C>G (p.Thr1769Ser)
c.5303C>G (p.Thr1768Ser)
n.5389C>G
19g.38485961C>TCA405654581RYR1c.5306C>T (p.Thr1769Ile)
c.5303C>T (p.Thr1768Ile)
n.5389C>T
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38485962T>ACA507353375RYR1c.5307T>A (p.Thr1769=)
c.5304T>A (p.Thr1768=)
n.5390T>A
19g.38485962T>CCA507353376RYR1c.5307T>C (p.Thr1769=)
c.5304T>C (p.Thr1768=)
n.5390T>C
ClinVar
19g.38485962T>GCA507353377RYR1c.5307T>G (p.Thr1769=)
c.5304T>G (p.Thr1768=)
n.5390T>G
19g.38485963T>ACA405654585RYR1c.5308T>A (p.Ser1770Thr)
c.5305T>A (p.Ser1769Thr)
n.5391T>A
19g.38485963T>CCA405654588RYR1c.5308T>C (p.Ser1770Pro)
c.5305T>C (p.Ser1769Pro)
n.5391T>C
19g.38485963T>GCA066870RYR1c.5308T>G (p.Ser1770Ala)
c.5305T>G (p.Ser1769Ala)
n.5391T>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38485963T=CA2335046336RYR1c.5308T= (p.Ser1770=)
c.5305T= (p.Ser1769=)
n.5391T=
19g.38485964C>ACA405654594RYR1c.5309C>A (p.Ser1770Ter)
c.5306C>A (p.Ser1769Ter)
n.5392C>A
ClinVar dbSNP gnomAD v2
19g.38485964C=CA2335046337RYR1c.5309C= (p.Ser1770=)
c.5306C= (p.Ser1769=)
n.5392C=
19g.38485964C>GCA405654605RYR1c.5309C>G (p.Ser1770Trp)
c.5306C>G (p.Ser1769Trp)
n.5392C>G
19g.38485964C>TCA024504RYR1c.5309C>T (p.Ser1770Leu)
c.5306C>T (p.Ser1769Leu)
n.5392C>T
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.38485965G>ACA507353378RYR1c.5310G>A (p.Ser1770=)
c.5307G>A (p.Ser1769=)
n.5393G>A
ClinVar dbSNP gnomAD v4 COSMIC
19g.38485965G>CCA507353379RYR1c.5310G>C (p.Ser1770=)
c.5307G>C (p.Ser1769=)
n.5393G>C
dbSNP gnomAD v3 gnomAD v4
19g.38485965G=CA2335046338RYR1c.5310G= (p.Ser1770=)
c.5307G= (p.Ser1769=)
n.5393G=
19g.38485965G>TCA507353380RYR1c.5310G>T (p.Ser1770=)
c.5307G>T (p.Ser1769=)
n.5393G>T
ClinVar dbSNP gnomAD v4
19g.38485966C>ACA405654610RYR1c.5311C>A (p.Leu1771Met)
c.5308C>A (p.Leu1770Met)
n.5394C>A
ClinVar dbSNP
19g.38485966C>GCA405654613RYR1c.5311C>G (p.Leu1771Val)
c.5308C>G (p.Leu1770Val)
n.5394C>G
19g.38485966C>TCA507353381RYR1c.5311C>T (p.Leu1771=)
c.5308C>T (p.Leu1770=)
n.5394C>T
19g.38485967T>ACA405654615RYR1c.5312T>A (p.Leu1771Gln)
c.5309T>A (p.Leu1770Gln)
n.5395T>A
19g.38485967T>CCA405654620RYR1c.5312T>C (p.Leu1771Pro)
c.5309T>C (p.Leu1770Pro)
n.5395T>C
19g.38485967T>GCA405654617RYR1c.5312T>G (p.Leu1771Arg)
c.5309T>G (p.Leu1770Arg)
n.5395T>G
19g.38485968G>ACA507353382RYR1c.5313G>A (p.Leu1771=)
c.5310G>A (p.Leu1770=)
n.5396G>A
COSMIC
19g.38485968G>CCA507353383RYR1c.5313G>C (p.Leu1771=)
c.5310G>C (p.Leu1770=)
n.5396G>C
19g.38485968G>TCA507353384RYR1c.5313G>T (p.Leu1771=)
c.5310G>T (p.Leu1770=)
n.5396G>T
19g.38485969A=CA2335046339RYR1c.5314A= (p.Arg1772=)
c.5311A= (p.Arg1771=)
n.5397A=
19g.38485969A>CCA507353385RYR1c.5314A>C (p.Arg1772=)
c.5311A>C (p.Arg1771=)
n.5397A>C
ClinVar
19g.38485969A>GCA405654623RYR1c.5314A>G (p.Arg1772Gly)
c.5311A>G (p.Arg1771Gly)
n.5397A>G
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38485969A>TCA405654626RYR1c.5314A>T (p.Arg1772Trp)
c.5311A>T (p.Arg1771Trp)
n.5397A>T
19g.38485970G>ACA405654628RYR1c.5315G>A (p.Arg1772Lys)
c.5312G>A (p.Arg1771Lys)
n.5398G>A
19g.38485970G>CCA405654631RYR1c.5315G>C (p.Arg1772Thr)
c.5312G>C (p.Arg1771Thr)
n.5398G>C
ClinVar dbSNP gnomAD v4
19g.38485970G=CA2335046340RYR1c.5315G= (p.Arg1772=)
c.5312G= (p.Arg1771=)
n.5398G=
19g.38485970G>TCA405654633RYR1c.5315G>T (p.Arg1772Met)
c.5312G>T (p.Arg1771Met)
n.5398G>T
gnomAD v4
19g.38485971G>ACA507353386RYR1c.5316G>A (p.Arg1772=)
c.5313G>A (p.Arg1771=)
n.5399G>A
19g.38485971G>CCA405654635RYR1c.5316G>C (p.Arg1772Ser)
c.5313G>C (p.Arg1771Ser)
n.5399G>C
19g.38485971G>TCA405654638RYR1c.5316G>T (p.Arg1772Ser)
c.5313G>T (p.Arg1771Ser)
n.5399G>T
19g.38485972C>ACA405654641RYR1c.5317C>A (p.Pro1773Thr)
c.5314C>A (p.Pro1772Thr)
n.5400C>A
19g.38485972C=CA2335046341RYR1c.5317C= (p.Pro1773=)
c.5314C= (p.Pro1772=)
n.5400C=
19g.38485972C>GCA405654644RYR1c.5317C>G (p.Pro1773Ala)
c.5314C>G (p.Pro1772Ala)
n.5400C>G
ClinVar dbSNP
19g.38485972C>TCA066877RYR1c.5317C>T (p.Pro1773Ser)
c.5314C>T (p.Pro1772Ser)
n.5400C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38485973C>ACA405654654RYR1c.5318C>A (p.Pro1773His)
c.5315C>A (p.Pro1772His)
n.5401C>A
19g.38485973C=CA2335046342RYR1c.5318C= (p.Pro1773=)
c.5315C= (p.Pro1772=)
n.5401C=
19g.38485973C>GCA405654652RYR1c.5318C>G (p.Pro1773Arg)
c.5315C>G (p.Pro1772Arg)
n.5401C>G
ClinVar dbSNP
19g.38485973C>TCA405654649RYR1c.5318C>T (p.Pro1773Leu)
c.5315C>T (p.Pro1772Leu)
n.5401C>T
19g.38485974C>ACA507353387RYR1c.5319C>A (p.Pro1773=)
c.5316C>A (p.Pro1772=)
n.5402C>A
19g.38485974C=CA2335046343RYR1c.5319C= (p.Pro1773=)
c.5316C= (p.Pro1772=)
n.5402C=
19g.38485974C>GCA507353388RYR1c.5319C>G (p.Pro1773=)
c.5316C>G (p.Pro1772=)
n.5402C>G
gnomAD v4
19g.38485974C>TCA308093632RYR1c.5319C>T (p.Pro1773=)
c.5316C>T (p.Pro1772=)
n.5402C>T
ClinVar dbSNP gnomAD v4
19g.38485975C>ACA405654656RYR1c.5320C>A (p.Pro1774Thr)
c.5317C>A (p.Pro1773Thr)
n.5403C>A
19g.38485975C>GCA405654659RYR1c.5320C>G (p.Pro1774Ala)
c.5317C>G (p.Pro1773Ala)
n.5403C>G
19g.38485975C>TCA081758RYR1c.5320C>T (p.Pro1774Ser)
c.5317C>T (p.Pro1773Ser)
n.5403C>T
COSMIC
19g.38485976C>ACA308093638RYR1c.5321C>A (p.Pro1774Gln)
c.5318C>A (p.Pro1773Gln)
n.5404C>A
dbSNP gnomAD v4
19g.38485976C=CA2335046344RYR1c.5321C= (p.Pro1774=)
c.5318C= (p.Pro1773=)
n.5404C=
19g.38485976C>GCA405654665RYR1c.5321C>G (p.Pro1774Arg)
c.5318C>G (p.Pro1773Arg)
n.5404C>G
19g.38485976C>TCA066879RYR1c.5321C>T (p.Pro1774Leu)
c.5318C>T (p.Pro1773Leu)
n.5404C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38485977G>ACA308093666RYR1c.5322G>A (p.Pro1774=)
c.5319G>A (p.Pro1773=)
n.5405G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38485977G>CCA507353389RYR1c.5322G>C (p.Pro1774=)
c.5319G>C (p.Pro1773=)
n.5405G>C
19g.38485977G=CA2335046345RYR1c.5322G= (p.Pro1774=)
c.5319G= (p.Pro1773=)
n.5405G=
19g.38485977G>TCA066883RYR1c.5322G>T (p.Pro1774=)
c.5319G>T (p.Pro1773=)
n.5405G>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38485978C>ACA405654673RYR1c.5323C>A (p.His1775Asn)
c.5320C>A (p.His1774Asn)
n.5406C>A
19g.38485978C>GCA405654676RYR1c.5323C>G (p.His1775Asp)
c.5320C>G (p.His1774Asp)
n.5406C>G
19g.38485978C>TCA405654678RYR1c.5323C>T (p.His1775Tyr)
c.5320C>T (p.His1774Tyr)
n.5406C>T
19g.38485979A=CA2335046346RYR1c.5324A= (p.His1775=)
c.5321A= (p.His1774=)
n.5407A=
19g.38485979A>CCA405654684RYR1c.5324A>C (p.His1775Pro)
c.5321A>C (p.His1774Pro)
n.5407A>C
19g.38485979A>GCA066887RYR1c.5324A>G (p.His1775Arg)
c.5321A>G (p.His1774Arg)
n.5407A>G
dbSNP ExAC gnomAD v2 gnomAD v4
19g.38485979A>TCA405654681RYR1c.5324A>T (p.His1775Leu)
c.5321A>T (p.His1774Leu)
n.5407A>T
19g.38485980T>ACA405654688RYR1c.5325T>A (p.His1775Gln)
c.5322T>A (p.His1774Gln)
n.5408T>A
19g.38485980T>CCA507353390RYR1c.5325T>C (p.His1775=)
c.5322T>C (p.His1774=)
n.5408T>C
19g.38485980T>GCA405654690RYR1c.5325T>G (p.His1775Gln)
c.5322T>G (p.His1774Gln)
n.5408T>G
ClinVar
19g.38485981C>ACA405654693RYR1c.5326C>A (p.His1776Asn)
c.5323C>A (p.His1775Asn)
n.5409C>A
19g.38485981C>GCA405654695RYR1c.5326C>G (p.His1776Asp)
c.5323C>G (p.His1775Asp)
n.5409C>G
19g.38485981C>TCA405654698RYR1c.5326C>T (p.His1776Tyr)
c.5323C>T (p.His1775Tyr)
n.5409C>T
COSMIC
19g.38485982A>CCA405654701RYR1c.5327A>C (p.His1776Pro)
c.5324A>C (p.His1775Pro)
n.5410A>C
19g.38485982A>GCA081761RYR1c.5327A>G (p.His1776Arg)
c.5324A>G (p.His1775Arg)
n.5410A>G
19g.38485982A>TCA405654704RYR1c.5327A>T (p.His1776Leu)
c.5324A>T (p.His1775Leu)
n.5410A>T
19g.38485983T>ACA405654707RYR1c.5328T>A (p.His1776Gln)
c.5325T>A (p.His1775Gln)
n.5411T>A
19g.38485983T>CCA507353391RYR1c.5328T>C (p.His1776=)
c.5325T>C (p.His1775=)
n.5411T>C
19g.38485983T>GCA405654710RYR1c.5328T>G (p.His1776Gln)
c.5325T>G (p.His1775Gln)
n.5411T>G
19g.38485984T>ACA405654713RYR1c.5329T>A (p.Phe1777Ile)
c.5326T>A (p.Phe1776Ile)
n.5412T>A
19g.38485984T>CCA405654715RYR1c.5329T>C (p.Phe1777Leu)
c.5326T>C (p.Phe1776Leu)
n.5412T>C
19g.38485984T>GCA405654717RYR1c.5329T>G (p.Phe1777Val)
c.5326T>G (p.Phe1776Val)
n.5412T>G
19g.38485985T>ACA405654723RYR1c.5330T>A (p.Phe1777Tyr)
c.5327T>A (p.Phe1776Tyr)
n.5413T>A
19g.38485985T>CCA405654720RYR1c.5330T>C (p.Phe1777Ser)
c.5327T>C (p.Phe1776Ser)
n.5413T>C
COSMIC
19g.38485985T>GCA405654718RYR1c.5330T>G (p.Phe1777Cys)
c.5327T>G (p.Phe1776Cys)
n.5413T>G
dbSNP
19g.38485985T=CA2335046347RYR1c.5330T= (p.Phe1777=)
c.5327T= (p.Phe1776=)
n.5413T=
19g.38485986C>ACA405654725RYR1c.5331C>A (p.Phe1777Leu)
c.5328C>A (p.Phe1776Leu)
n.5414C>A
19g.38485986C=CA2335046348RYR1c.5331C= (p.Phe1777=)
c.5328C= (p.Phe1776=)
n.5414C=
19g.38485986C>GCA405654726RYR1c.5331C>G (p.Phe1777Leu)
c.5328C>G (p.Phe1776Leu)
n.5414C>G
19g.38485986C>TCA507353392RYR1c.5331C>T (p.Phe1777=)
c.5328C>T (p.Phe1776=)
n.5414C>T
dbSNP gnomAD v3 gnomAD v4
19g.38485987T>ACA405654727RYR1c.5332T>A (p.Ser1778Thr)
c.5329T>A (p.Ser1777Thr)
n.5415T>A
19g.38485987T>CCA405654728RYR1c.5332T>C (p.Ser1778Pro)
c.5329T>C (p.Ser1777Pro)
n.5415T>C
19g.38485987T>GCA405654730RYR1c.5332T>G (p.Ser1778Ala)
c.5329T>G (p.Ser1777Ala)
n.5415T>G
19g.38485988C>ACA024506RYR1c.5333C>A (p.Ser1778Ter)
c.5330C>A (p.Ser1777Ter)
n.5416C>A
ClinVar dbSNP gnomAD v4
19g.38485988C=CA2335046349RYR1c.5333C= (p.Ser1778=)
c.5330C= (p.Ser1777=)
n.5416C=
19g.38485988C>GCA405654733RYR1c.5333C>G (p.Ser1778Trp)
c.5330C>G (p.Ser1777Trp)
n.5416C>G
19g.38485988C>TCA066890RYR1c.5333C>T (p.Ser1778Leu)
c.5330C>T (p.Ser1777Leu)
n.5416C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.38485989G>ACA066894RYR1c.5334G>A (p.Ser1778=)
c.5331G>A (p.Ser1777=)
n.5417G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38485989G>CCA507353393RYR1c.5334G>C (p.Ser1778=)
c.5331G>C (p.Ser1777=)
n.5417G>C
dbSNP gnomAD v3 gnomAD v4
19g.38485989G=CA2335046350RYR1c.5334G= (p.Ser1778=)
c.5331G= (p.Ser1777=)
n.5417G=
19g.38485989G>TCA024509RYR1c.5334G>T (p.Ser1778=)
c.5331G>T (p.Ser1777=)
n.5417G>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38485990C>ACA405654738RYR1c.5335C>A (p.Pro1779Thr)
c.5332C>A (p.Pro1778Thr)
n.5418C>A
19g.38485990C=CA2335046351RYR1c.5335C= (p.Pro1779=)
c.5332C= (p.Pro1778=)
n.5418C=
19g.38485990C>GCA405654740RYR1c.5335C>G (p.Pro1779Ala)
c.5332C>G (p.Pro1778Ala)
n.5418C>G
COSMIC
19g.38485990C>TCA066902RYR1c.5335C>T (p.Pro1779Ser)
c.5332C>T (p.Pro1778Ser)
n.5418C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38485995dupCA633066093RYR1c.5340dup (p.Cys1781LeufsTer?)
c.5337dup (p.Cys1780LeufsTer?)
n.5423dup
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38485995delCA2825002783RYR1c.5340del (p.Cys1781ValfsTer?)
c.5337del (p.Cys1780ValfsTer?)
n.5423del
ClinVar
19g.38485991C>ACA066907RYR1c.5336C>A (p.Pro1779His)
c.5333C>A (p.Pro1778His)
n.5419C>A
dbSNP ExAC gnomAD v2 gnomAD v4
19g.38485991C=CA2335046352RYR1c.5336C= (p.Pro1779=)
c.5333C= (p.Pro1778=)
n.5419C=
19g.38485991C>GCA405654744RYR1c.5336C>G (p.Pro1779Arg)
c.5333C>G (p.Pro1778Arg)
n.5419C>G
19g.38485991C>TCA024511RYR1c.5336C>T (p.Pro1779Leu)
c.5333C>T (p.Pro1778Leu)
n.5419C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38485992C>ACA507353394RYR1c.5337C>A (p.Pro1779=)
c.5334C>A (p.Pro1778=)
n.5420C>A
19g.38485992C>GCA507353395RYR1c.5337C>G (p.Pro1779=)
c.5334C>G (p.Pro1778=)
n.5420C>G
ClinVar
19g.38485992C>TCA507353396RYR1c.5337C>T (p.Pro1779=)
c.5334C>T (p.Pro1778=)
n.5420C>T
19g.38485993C>ACA405654747RYR1c.5338C>A (p.Pro1780Thr)
c.5335C>A (p.Pro1779Thr)
n.5421C>A
dbSNP
19g.38485993C=CA2335046353RYR1c.5338C= (p.Pro1780=)
c.5335C= (p.Pro1779=)
n.5421C=
19g.38485993C>GCA405654749RYR1c.5338C>G (p.Pro1780Ala)
c.5335C>G (p.Pro1779Ala)
n.5421C>G
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38485993C>TCA081764RYR1c.5338C>T (p.Pro1780Ser)
c.5335C>T (p.Pro1779Ser)
n.5421C>T
gnomAD v4 COSMIC
19g.38485994C>ACA081765RYR1c.5339C>A (p.Pro1780His)
c.5336C>A (p.Pro1779His)
n.5422C>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38485994C=CA2335046354RYR1c.5339C= (p.Pro1780=)
c.5336C= (p.Pro1779=)
n.5422C=
19g.38485994C>GCA9415807RYR1c.5339C>G (p.Pro1780Arg)
c.5336C>G (p.Pro1779Arg)
n.5422C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38485994C>TCA9415808RYR1c.5339C>T (p.Pro1780Leu)
c.5336C>T (p.Pro1779Leu)
n.5422C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38485994_38485996delinsCCTCA2335046355RYR1c.5339_5341delinsCCT (p.Pro1780=)
c.5336_5338delinsCCT (p.Pro1779=)
n.5422_5424delinsCCT
19g.38485995C>ACA507353397RYR1c.5340C>A (p.Pro1780=)
c.5337C>A (p.Pro1779=)
n.5423C>A
gnomAD v4
19g.38485995C>GCA507353398RYR1c.5340C>G (p.Pro1780=)
c.5337C>G (p.Pro1779=)
n.5423C>G
19g.38485995C>TCA507353399RYR1c.5340C>T (p.Pro1780=)
c.5337C>T (p.Pro1779=)
n.5423C>T
19g.38485995_38485996delCA9415809RYR1c.5340_5341del (p.Cys1781PhefsTer?)
c.5337_5338del (p.Cys1780PhefsTer?)
n.5423_5424del
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38485996T>ACA405654757RYR1c.5341T>A (p.Cys1781Ser)
c.5338T>A (p.Cys1780Ser)
n.5424T>A
19g.38485996T>CCA066926RYR1c.5341T>C (p.Cys1781Arg)
c.5338T>C (p.Cys1780Arg)
n.5424T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38485996T>GCA405654756RYR1c.5341T>G (p.Cys1781Gly)
c.5338T>G (p.Cys1780Gly)
n.5424T>G
19g.38485996T=CA2335046356RYR1c.5341T= (p.Cys1781=)
c.5338T= (p.Cys1780=)
n.5424T=
19g.38485997_38485999delCA081766RYR1c.5342_5344del (p.Cys1781del)
c.5339_5341del (p.Cys1780del)
n.5425_5427del
19g.38485997G>ACA405654759RYR1c.5342G>A (p.Cys1781Tyr)
c.5339G>A (p.Cys1780Tyr)
n.5425G>A
19g.38485997G>CCA405654761RYR1c.5342G>C (p.Cys1781Ser)
c.5339G>C (p.Cys1780Ser)
n.5425G>C
dbSNP gnomAD v2 gnomAD v4
19g.38485997G=CA2335046357RYR1c.5342G= (p.Cys1781=)
c.5339G= (p.Cys1780=)
n.5425G=
19g.38485997G>TCA405654762RYR1c.5342G>T (p.Cys1781Phe)
c.5339G>T (p.Cys1780Phe)
n.5425G>T
19g.38485998T>ACA405654765RYR1c.5343T>A (p.Cys1781Ter)
c.5340T>A (p.Cys1780Ter)
n.5426T>A
19g.38485998T>CCA507353400RYR1c.5343T>C (p.Cys1781=)
c.5340T>C (p.Cys1780=)
n.5426T>C
19g.38485998T>GCA405654766RYR1c.5343T>G (p.Cys1781Trp)
c.5340T>G (p.Cys1780Trp)
n.5426T>G
19g.38486000delCA2695228661RYR1c.5345del (p.Phe1782SerfsTer?)
c.5342del (p.Phe1781SerfsTer?)
n.5428del
19g.38485999T>ACA405654768RYR1c.5344T>A (p.Phe1782Ile)
c.5341T>A (p.Phe1781Ile)
n.5427T>A
19g.38485999T>CCA081770RYR1c.5344T>C (p.Phe1782Leu)
c.5341T>C (p.Phe1781Leu)
n.5427T>C
19g.38485999T>GCA405654769RYR1c.5344T>G (p.Phe1782Val)
c.5341T>G (p.Phe1781Val)
n.5427T>G
19g.38486000T>ACA405654771RYR1c.5345T>A (p.Phe1782Tyr)
c.5342T>A (p.Phe1781Tyr)
n.5428T>A
19g.38486000T>CCA405654772RYR1c.5345T>C (p.Phe1782Ser)
c.5342T>C (p.Phe1781Ser)
n.5428T>C
gnomAD v4
19g.38486000T>GCA405654774RYR1c.5345T>G (p.Phe1782Cys)
c.5342T>G (p.Phe1781Cys)
n.5428T>G
19g.38486001C>ACA405654777RYR1c.5346C>A (p.Phe1782Leu)
c.5343C>A (p.Phe1781Leu)
n.5429C>A
19g.38486001C=CA2335046358RYR1c.5346C= (p.Phe1782=)
c.5343C= (p.Phe1781=)
n.5429C=
19g.38486001C>GCA405654780RYR1c.5346C>G (p.Phe1782Leu)
c.5343C>G (p.Phe1781Leu)
n.5429C>G
dbSNP gnomAD v3 gnomAD v4
19g.38486001C>TCA066930RYR1c.5346C>T (p.Phe1782=)
c.5343C>T (p.Phe1781=)
n.5429C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.38486002G>ACA066934RYR1c.5347G>A (p.Val1783Met)
c.5344G>A (p.Val1782Met)
n.5430G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38486002G>CCA405654783RYR1c.5347G>C (p.Val1783Leu)
c.5344G>C (p.Val1782Leu)
n.5430G>C
19g.38486002G=CA2335046359RYR1c.5347G= (p.Val1783=)
c.5344G= (p.Val1782=)
n.5430G=
19g.38486002G>TCA066937RYR1c.5347G>T (p.Val1783Leu)
c.5344G>T (p.Val1782Leu)
n.5430G>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38486003T>ACA405654787RYR1c.5348T>A (p.Val1783Glu)
c.5345T>A (p.Val1782Glu)
n.5431T>A
19g.38486003T>CCA405654788RYR1c.5348T>C (p.Val1783Ala)
c.5345T>C (p.Val1782Ala)
n.5431T>C
19g.38486003T>GCA405654790RYR1c.5348T>G (p.Val1783Gly)
c.5345T>G (p.Val1782Gly)
n.5431T>G
19g.38486004G>ACA507353405RYR1c.5349G>A (p.Val1783=)
c.5346G>A (p.Val1782=)
n.5432G>A
19g.38486004G>CCA507353406RYR1c.5349G>C (p.Val1783=)
c.5346G>C (p.Val1782=)
n.5432G>C
19g.38486004G>TCA507353407RYR1c.5349G>T (p.Val1783=)
c.5346G>T (p.Val1782=)
n.5432G>T
19g.38486005G>ACA081772RYR1c.5350G>A (p.Ala1784Thr)
c.5347G>A (p.Ala1783Thr)
n.5433G>A
19g.38486005G>CCA405654794RYR1c.5350G>C (p.Ala1784Pro)
c.5347G>C (p.Ala1783Pro)
n.5433G>C
19g.38486005G>TCA081773RYR1c.5350G>T (p.Ala1784Ser)
c.5347G>T (p.Ala1783Ser)
n.5433G>T
19g.38486006C>ACA066942RYR1c.5351C>A (p.Ala1784Asp)
c.5348C>A (p.Ala1783Asp)
n.5434C>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38486006C=CA2335046360RYR1c.5351C= (p.Ala1784=)
c.5348C= (p.Ala1783=)
n.5434C=
19g.38486006C>GCA405654797RYR1c.5351C>G (p.Ala1784Gly)
c.5348C>G (p.Ala1783Gly)
n.5434C>G
gnomAD v4
19g.38486006C>TCA405654796RYR1c.5351C>T (p.Ala1784Val)
c.5348C>T (p.Ala1783Val)
n.5434C>T
gnomAD v4
19g.38486007C>ACA308093729RYR1c.5352C>A (p.Ala1784=)
c.5349C>A (p.Ala1783=)
n.5435C>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38486007C=CA2335046361RYR1c.5352C= (p.Ala1784=)
c.5349C= (p.Ala1783=)
n.5435C=
19g.38486007C>GCA507353408RYR1c.5352C>G (p.Ala1784=)
c.5349C>G (p.Ala1783=)
n.5435C>G
19g.38486007C>TCA507353409RYR1c.5352C>T (p.Ala1784=)
c.5349C>T (p.Ala1783=)
n.5435C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38486008G>ACA405654799RYR1c.5353G>A (p.Ala1785Thr)
c.5350G>A (p.Ala1784Thr)
n.5436G>A
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38486008G>CCA308093731RYR1c.5353G>C (p.Ala1785Pro)
c.5350G>C (p.Ala1784Pro)
n.5436G>C
dbSNP
19g.38486008G=CA2335046362RYR1c.5353G= (p.Ala1785=)
c.5350G= (p.Ala1784=)
n.5436G=
19g.38486008G>TCA405654801RYR1c.5353G>T (p.Ala1785Ser)
c.5350G>T (p.Ala1784Ser)
n.5436G>T
dbSNP gnomAD v2 gnomAD v4
19g.38486009C>ACA081774RYR1c.5354C>A (p.Ala1785Asp)
c.5351C>A (p.Ala1784Asp)
n.5437C>A
19g.38486009C>GCA405654805RYR1c.5354C>G (p.Ala1785Gly)
c.5351C>G (p.Ala1784Gly)
n.5437C>G
19g.38486009C>TCA405654808RYR1c.5354C>T (p.Ala1785Val)
c.5351C>T (p.Ala1784Val)
n.5437C>T
gnomAD v4
19g.38486010T>ACA507353411RYR1c.5355T>A (p.Ala1785=)
c.5352T>A (p.Ala1784=)
n.5438T>A
19g.38486010T>CCA507353413RYR1c.5355T>C (p.Ala1785=)
c.5352T>C (p.Ala1784=)
n.5438T>C
19g.38486010T>GCA507353414RYR1c.5355T>G (p.Ala1785=)
c.5352T>G (p.Ala1784=)
n.5438T>G
19g.38486011C>ACA405654811RYR1c.5356C>A (p.Leu1786Met)
c.5353C>A (p.Leu1785Met)
n.5439C>A
gnomAD v4
19g.38486011C=CA2335046363RYR1c.5356C= (p.Leu1786=)
c.5353C= (p.Leu1785=)
n.5439C=
19g.38486011C>GCA405654816RYR1c.5356C>G (p.Leu1786Val)
c.5353C>G (p.Leu1785Val)
n.5439C>G
19g.38486011C>TCA507353416RYR1c.5356C>T (p.Leu1786=)
c.5353C>T (p.Leu1785=)
n.5439C>T
dbSNP
19g.38486012T>ACA405654818RYR1c.5357T>A (p.Leu1786Gln)
c.5354T>A (p.Leu1785Gln)
n.5440T>A
19g.38486012T>CCA405654821RYR1c.5357T>C (p.Leu1786Pro)
c.5354T>C (p.Leu1785Pro)
n.5440T>C
19g.38486012T>GCA405654823RYR1c.5357T>G (p.Leu1786Arg)
c.5354T>G (p.Leu1785Arg)
n.5440T>G
19g.38486013G>ACA507353421RYR1c.5358G>A (p.Leu1786=)
c.5355G>A (p.Leu1785=)
n.5441G>A
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38486013G>CCA507353422RYR1c.5358G>C (p.Leu1786=)
c.5355G>C (p.Leu1785=)
n.5441G>C
19g.38486013G=CA2335046364RYR1c.5358G= (p.Leu1786=)
c.5355G= (p.Leu1785=)
n.5441G=
19g.38486013G>TCA507353423RYR1c.5358G>T (p.Leu1786=)
c.5355G>T (p.Leu1785=)
n.5441G>T
19g.38486014C>ACA405654830RYR1c.5359C>A (p.Pro1787Thr)
c.5356C>A (p.Pro1786Thr)
n.5442C>A
gnomAD v4
19g.38486014C>GCA405654826RYR1c.5359C>G (p.Pro1787Ala)
c.5356C>G (p.Pro1786Ala)
n.5442C>G
19g.38486014C>TCA405654829RYR1c.5359C>T (p.Pro1787Ser)
c.5356C>T (p.Pro1786Ser)
n.5442C>T
COSMIC
19g.38486015C>ACA405654832RYR1c.5360C>A (p.Pro1787Gln)
c.5357C>A (p.Pro1786Gln)
n.5443C>A
19g.38486015C=CA2335046365RYR1c.5360C= (p.Pro1787=)
c.5357C= (p.Pro1786=)
n.5443C=
19g.38486015C>GCA405654834RYR1c.5360C>G (p.Pro1787Arg)
c.5357C>G (p.Pro1786Arg)
n.5443C>G
19g.38486015C>TCA024515RYR1c.5360C>T (p.Pro1787Leu)
c.5357C>T (p.Pro1786Leu)
n.5443C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38486016A=CA2335046366RYR1c.5361A= (p.Pro1787=)
c.5358A= (p.Pro1786=)
n.5444A=
19g.38486016A>CCA507353428RYR1c.5361A>C (p.Pro1787=)
c.5358A>C (p.Pro1786=)
n.5444A>C
19g.38486016A>GCA066948RYR1c.5361A>G (p.Pro1787=)
c.5358A>G (p.Pro1786=)
n.5444A>G
dbSNP ExAC gnomAD v2 gnomAD v4
19g.38486016A>TCA507353427RYR1c.5361A>T (p.Pro1787=)
c.5358A>T (p.Pro1786=)
n.5444A>T
19g.38486017G>ACA405654842RYR1c.5362G>A (p.Ala1788Thr)
c.5359G>A (p.Ala1787Thr)
n.5445G>A
19g.38486017G>CCA405654845RYR1c.5362G>C (p.Ala1788Pro)
c.5359G>C (p.Ala1787Pro)
n.5445G>C
19g.38486017G>TCA405654848RYR1c.5362G>T (p.Ala1788Ser)
c.5359G>T (p.Ala1787Ser)
n.5445G>T
gnomAD v4
19g.38486018C>ACA405654850RYR1c.5363C>A (p.Ala1788Asp)
c.5360C>A (p.Ala1787Asp)
n.5446C>A
19g.38486018C>GCA405654852RYR1c.5363C>G (p.Ala1788Gly)
c.5360C>G (p.Ala1787Gly)
n.5446C>G
19g.38486018C>TCA081775RYR1c.5363C>T (p.Ala1788Val)
c.5360C>T (p.Ala1787Val)
n.5446C>T
19g.38486019T>ACA507353431RYR1c.5364T>A (p.Ala1788=)
c.5361T>A (p.Ala1787=)
n.5447T>A
19g.38486019T>CCA507353430RYR1c.5364T>C (p.Ala1788=)
c.5361T>C (p.Ala1787=)
n.5447T>C
19g.38486019T>GCA024516RYR1c.5364T>G (p.Ala1788=)
c.5361T>G (p.Ala1787=)
n.5447T>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38486019T=CA2335046367RYR1c.5364T= (p.Ala1788=)
c.5361T= (p.Ala1787=)
n.5447T=
19g.38486020G>ACA066953RYR1c.5365G>A (p.Ala1789Thr)
c.5362G>A (p.Ala1788Thr)
n.5448G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38486020G>CCA405654863RYR1c.5365G>C (p.Ala1789Pro)
c.5362G>C (p.Ala1788Pro)
n.5448G>C
19g.38486020G=CA2335046368RYR1c.5365G= (p.Ala1789=)
c.5362G= (p.Ala1788=)
n.5448G=
19g.38486020G>TCA405654856RYR1c.5365G>T (p.Ala1789Ser)
c.5362G>T (p.Ala1788Ser)
n.5448G>T
dbSNP gnomAD v3 gnomAD v4 COSMIC
19g.38486021C>ACA405654866RYR1c.5366C>A (p.Ala1789Asp)
c.5363C>A (p.Ala1788Asp)
n.5449C>A
19g.38486021C=CA2335046369RYR1c.5366C= (p.Ala1789=)
c.5363C= (p.Ala1788=)
n.5449C=
19g.38486021C>GCA405654868RYR1c.5366C>G (p.Ala1789Gly)
c.5363C>G (p.Ala1788Gly)
n.5449C>G
19g.38486021C>TCA405654872RYR1c.5366C>T (p.Ala1789Val)
c.5363C>T (p.Ala1788Val)
n.5449C>T
dbSNP gnomAD v3 gnomAD v4
19g.38486022T>ACA507353432RYR1c.5367T>A (p.Ala1789=)
c.5364T>A (p.Ala1788=)
n.5450T>A
19g.38486022T>CCA507353434RYR1c.5367T>C (p.Ala1789=)
c.5364T>C (p.Ala1788=)
n.5450T>C
gnomAD v4
19g.38486022T>GCA081777RYR1c.5367T>G (p.Ala1789=)
c.5364T>G (p.Ala1788=)
n.5450T>G
19g.38486023G>ACA081778RYR1c.5368G>A (p.Gly1790Arg)
c.5365G>A (p.Gly1789Arg)
n.5451G>A
19g.38486023G>CCA405654874RYR1c.5368G>C (p.Gly1790Arg)
c.5365G>C (p.Gly1789Arg)
n.5451G>C
gnomAD v4
19g.38486023G>TCA405654877RYR1c.5368G>T (p.Gly1790Trp)
c.5365G>T (p.Gly1789Trp)
n.5451G>T
19g.38486024G>ACA308093754RYR1c.5369G>A (p.Gly1790Glu)
c.5366G>A (p.Gly1789Glu)
n.5452G>A
dbSNP gnomAD v4
19g.38486024G>CCA405654882RYR1c.5369G>C (p.Gly1790Ala)
c.5366G>C (p.Gly1789Ala)
n.5452G>C
gnomAD v4
19g.38486024G=CA2335046370RYR1c.5369G= (p.Gly1790=)
c.5366G= (p.Gly1789=)
n.5452G=
19g.38486024G>TCA405654884RYR1c.5369G>T (p.Gly1790Val)
c.5366G>T (p.Gly1789Val)
n.5452G>T
dbSNP gnomAD v4
19g.38486025G>ACA507353440RYR1c.5370G>A (p.Gly1790=)
c.5367G>A (p.Gly1789=)
n.5453G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38486025G>CCA507353436RYR1c.5370G>C (p.Gly1790=)
c.5367G>C (p.Gly1789=)
n.5453G>C
19g.38486025G=CA2335046371RYR1c.5370G= (p.Gly1790=)
c.5367G= (p.Gly1789=)
n.5453G=
19g.38486025G>TCA507353438RYR1c.5370G>T (p.Gly1790=)
c.5367G>T (p.Gly1789=)
n.5453G>T
19g.38486026G>ACA405654888RYR1c.5371G>A (p.Ala1791Thr)
c.5368G>A (p.Ala1790Thr)
n.5454G>A
gnomAD v4
19g.38486026G>CCA405654891RYR1c.5371G>C (p.Ala1791Pro)
c.5368G>C (p.Ala1790Pro)
n.5454G>C
19g.38486026G>TCA405654894RYR1c.5371G>T (p.Ala1791Ser)
c.5368G>T (p.Ala1790Ser)
n.5454G>T
19g.38486027C>ACA405654902RYR1c.5372C>A (p.Ala1791Glu)
c.5369C>A (p.Ala1790Glu)
n.5455C>A
gnomAD v4
19g.38486027C>GCA405654901RYR1c.5372C>G (p.Ala1791Gly)
c.5369C>G (p.Ala1790Gly)
n.5455C>G
19g.38486027C>TCA405654898RYR1c.5372C>T (p.Ala1791Val)
c.5369C>T (p.Ala1790Val)
n.5455C>T
19g.38486028A>CCA507353445RYR1c.5373A>C (p.Ala1791=)
c.5370A>C (p.Ala1790=)
n.5456A>C
19g.38486028A>GCA507353447RYR1c.5373A>G (p.Ala1791=)
c.5370A>G (p.Ala1790=)
n.5456A>G
19g.38486028A>TCA507353446RYR1c.5373A>T (p.Ala1791=)
c.5370A>T (p.Ala1790=)
n.5456A>T
19g.38486029G>ACA405654905RYR1c.5374G>A (p.Ala1792Thr)
c.5371G>A (p.Ala1791Thr)
n.5457G>A
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38486029G>CCA405654909RYR1c.5374G>C (p.Ala1792Pro)
c.5371G>C (p.Ala1791Pro)
n.5457G>C
dbSNP gnomAD v4
19g.38486029G=CA2335046372RYR1c.5374G= (p.Ala1792=)
c.5371G= (p.Ala1791=)
n.5457G=
19g.38486029G>TCA405654911RYR1c.5374G>T (p.Ala1792Ser)
c.5371G>T (p.Ala1791Ser)
n.5457G>T
19g.38486030C>ACA405654915RYR1c.5375C>A (p.Ala1792Glu)
c.5372C>A (p.Ala1791Glu)
n.5458C>A
19g.38486030C>GCA405654917RYR1c.5375C>G (p.Ala1792Gly)
c.5372C>G (p.Ala1791Gly)
n.5458C>G
19g.38486030C>TCA405654920RYR1c.5375C>T (p.Ala1792Val)
c.5372C>T (p.Ala1791Val)
n.5458C>T
19g.38486031A>CCA507353448RYR1c.5376A>C (p.Ala1792=)
c.5373A>C (p.Ala1791=)
n.5459A>C
19g.38486031A>GCA507353449RYR1c.5376A>G (p.Ala1792=)
c.5373A>G (p.Ala1791=)
n.5459A>G
19g.38486031A>TCA507353450RYR1c.5376A>T (p.Ala1792=)
c.5373A>T (p.Ala1791=)
n.5459A>T

Number of alleles fetched