Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38485896C>ACA405654273RYR1c.5241C>A (p.Phe1747Leu)
c.5238C>A (p.Phe1746Leu)
n.5324C>A
19g.38485896C>GCA405654272RYR1c.5241C>G (p.Phe1747Leu)
c.5238C>G (p.Phe1746Leu)
n.5324C>G
19g.38485896C>TCA081741RYR1c.5241C>T (p.Phe1747=)
c.5238C>T (p.Phe1746=)
n.5324C>T
 gnomAD v4 COSMIC
19g.38485897C>ACA405654275RYR1c.5242C>A (p.Pro1748Thr)
c.5239C>A (p.Pro1747Thr)
n.5325C>A
19g.38485897C>GCA405654276RYR1c.5242C>G (p.Pro1748Ala)
c.5239C>G (p.Pro1747Ala)
n.5325C>G
19g.38485897C>TCA405654278RYR1c.5242C>T (p.Pro1748Ser)
c.5239C>T (p.Pro1747Ser)
n.5325C>T
 ClinVar COSMIC
19g.38485898C>ACA405654280RYR1c.5243C>A (p.Pro1748His)
c.5240C>A (p.Pro1747His)
n.5326C>A
 dbSNP
19g.38485898C=CA2335046301RYR1c.5243C= (p.Pro1748=)
c.5240C= (p.Pro1747=)
n.5326C=
19g.38485898C>GCA405654281RYR1c.5243C>G (p.Pro1748Arg)
c.5240C>G (p.Pro1747Arg)
n.5326C>G
 ClinVar
19g.38485898C>TCA405654283RYR1c.5243C>T (p.Pro1748Leu)
c.5240C>T (p.Pro1747Leu)
n.5326C>T
 dbSNP
19g.38485899T>ACA507353289RYR1c.5244T>A (p.Pro1748=)
c.5241T>A (p.Pro1747=)
n.5327T>A
19g.38485899T>CCA507353290RYR1c.5244T>C (p.Pro1748=)
c.5241T>C (p.Pro1747=)
n.5327T>C
19g.38485899T>GCA507353291RYR1c.5244T>G (p.Pro1748=)
c.5241T>G (p.Pro1747=)
n.5327T>G
 gnomAD v4
19g.38485900C>ACA405654284RYR1c.5245C>A (p.Pro1749Thr)
c.5242C>A (p.Pro1748Thr)
n.5328C>A
19g.38485900C=CA2335046302RYR1c.5245C= (p.Pro1749=)
c.5242C= (p.Pro1748=)
n.5328C=
19g.38485900C>GCA405654285RYR1c.5245C>G (p.Pro1749Ala)
c.5242C>G (p.Pro1748Ala)
n.5328C>G
19g.38485900C>TCA405654287RYR1c.5245C>T (p.Pro1749Ser)
c.5242C>T (p.Pro1748Ser)
n.5328C>T
 dbSNP gnomAD v4
19g.38485901C>ACA405654288RYR1c.5246C>A (p.Pro1749His)
c.5243C>A (p.Pro1748His)
n.5329C>A
19g.38485901C=CA2335046303RYR1c.5246C= (p.Pro1749=)
c.5243C= (p.Pro1748=)
n.5329C=
19g.38485901C>GCA405654290RYR1c.5246C>G (p.Pro1749Arg)
c.5243C>G (p.Pro1748Arg)
n.5329C>G
19g.38485901C>TCA405654291RYR1c.5246C>T (p.Pro1749Leu)
c.5243C>T (p.Pro1748Leu)
n.5329C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38485902T>ACA507353295RYR1c.5247T>A (p.Pro1749=)
c.5244T>A (p.Pro1748=)
n.5330T>A
19g.38485902T>CCA507353296RYR1c.5247T>C (p.Pro1749=)
c.5244T>C (p.Pro1748=)
n.5330T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38485902T>GCA507353297RYR1c.5247T>G (p.Pro1749=)
c.5244T>G (p.Pro1748=)
n.5330T>G
19g.38485902T=CA2335046304RYR1c.5247T= (p.Pro1749=)
c.5244T= (p.Pro1748=)
n.5330T=
19g.38485903G>ACA405654296RYR1c.5248G>A (p.Gly1750Arg)
c.5245G>A (p.Gly1749Arg)
n.5331G>A
19g.38485903G>CCA405654293RYR1c.5248G>C (p.Gly1750Arg)
c.5245G>C (p.Gly1749Arg)
n.5331G>C
 gnomAD v4
19g.38485903G>TCA405654294RYR1c.5248G>T (p.Gly1750Ter)
c.5245G>T (p.Gly1749Ter)
n.5331G>T
19g.38485904G>ACA405654298RYR1c.5249G>A (p.Gly1750Glu)
c.5246G>A (p.Gly1749Glu)
n.5332G>A
19g.38485904G>CCA405654299RYR1c.5249G>C (p.Gly1750Ala)
c.5246G>C (p.Gly1749Ala)
n.5332G>C
19g.38485904G>TCA405654301RYR1c.5249G>T (p.Gly1750Val)
c.5246G>T (p.Gly1749Val)
n.5332G>T
19g.38485905A=CA2335046305RYR1c.5250A= (p.Gly1750=)
c.5247A= (p.Gly1749=)
n.5333A=
19g.38485905A>CCA507353302RYR1c.5250A>C (p.Gly1750=)
c.5247A>C (p.Gly1749=)
n.5333A>C
19g.38485905A>GCA066800RYR1c.5250A>G (p.Gly1750=)
c.5247A>G (p.Gly1749=)
n.5333A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38485905A>TCA507353303RYR1c.5250A>T (p.Gly1750=)
c.5247A>T (p.Gly1749=)
n.5333A>T
19g.38485906A=CA2335046306RYR1c.5251A= (p.Arg1751=)
c.5248A= (p.Arg1750=)
n.5334A=
19g.38485906A>CCA507353305RYR1c.5251A>C (p.Arg1751=)
c.5248A>C (p.Arg1750=)
n.5334A>C
19g.38485906A>GCA066804RYR1c.5251A>G (p.Arg1751Gly)
c.5248A>G (p.Arg1750Gly)
n.5334A>G
 dbSNP ExAC gnomAD v4
19g.38485906A>TCA405654303RYR1c.5251A>T (p.Arg1751Trp)
c.5248A>T (p.Arg1750Trp)
n.5334A>T
19g.38485907G>ACA405654305RYR1c.5252G>A (p.Arg1751Lys)
c.5249G>A (p.Arg1750Lys)
n.5335G>A
 dbSNP gnomAD v2 gnomAD v4
19g.38485907G>CCA405654306RYR1c.5252G>C (p.Arg1751Thr)
c.5249G>C (p.Arg1750Thr)
n.5335G>C
19g.38485907G=CA2335046307RYR1c.5252G= (p.Arg1751=)
c.5249G= (p.Arg1750=)
n.5335G=
19g.38485907G>TCA405654307RYR1c.5252G>T (p.Arg1751Met)
c.5249G>T (p.Arg1750Met)
n.5335G>T
19g.38485908G>ACA066808RYR1c.5253G>A (p.Arg1751=)
c.5250G>A (p.Arg1750=)
n.5336G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38485908G>CCA405654309RYR1c.5253G>C (p.Arg1751Ser)
c.5250G>C (p.Arg1750Ser)
n.5336G>C
19g.38485908G=CA2335046308RYR1c.5253G= (p.Arg1751=)
c.5250G= (p.Arg1750=)
n.5336G=
19g.38485908G>TCA405654311RYR1c.5253G>T (p.Arg1751Ser)
c.5250G>T (p.Arg1750Ser)
n.5336G>T
19g.38485909A=CA2335046309RYR1c.5254A= (p.Ser1752=)
c.5251A= (p.Ser1751=)
n.5337A=
19g.38485909A>CCA405654314RYR1c.5254A>C (p.Ser1752Arg)
c.5251A>C (p.Ser1751Arg)
n.5337A>C
19g.38485909A>GCA066812RYR1c.5254A>G (p.Ser1752Gly)
c.5251A>G (p.Ser1751Gly)
n.5337A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38485909A>TCA405654313RYR1c.5254A>T (p.Ser1752Cys)
c.5251A>T (p.Ser1751Cys)
n.5337A>T
19g.38485910G>ACA066816RYR1c.5255G>A (p.Ser1752Asn)
c.5252G>A (p.Ser1751Asn)
n.5338G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38485910G>CCA405654319RYR1c.5255G>C (p.Ser1752Thr)
c.5252G>C (p.Ser1751Thr)
n.5338G>C
19g.38485910G=CA2335046310RYR1c.5255G= (p.Ser1752=)
c.5252G= (p.Ser1751=)
n.5338G=
19g.38485910G>TCA405654317RYR1c.5255G>T (p.Ser1752Ile)
c.5252G>T (p.Ser1751Ile)
n.5338G>T
 gnomAD v4
19g.38485911C>ACA405654320RYR1c.5256C>A (p.Ser1752Arg)
c.5253C>A (p.Ser1751Arg)
n.5339C>A
 ClinVar
19g.38485911C=CA2335046311RYR1c.5256C= (p.Ser1752=)
c.5253C= (p.Ser1751=)
n.5339C=
19g.38485911C>GCA405654322RYR1c.5256C>G (p.Ser1752Arg)
c.5253C>G (p.Ser1751Arg)
n.5339C>G
19g.38485911C>TCA507353313RYR1c.5256C>T (p.Ser1752=)
c.5253C>T (p.Ser1751=)
n.5339C>T
 ClinVar dbSNP gnomAD v4
19g.38485912A=CA2335046312RYR1c.5257A= (p.Thr1753=)
c.5254A= (p.Thr1752=)
n.5340A=
19g.38485912A>CCA405654324RYR1c.5257A>C (p.Thr1753Pro)
c.5254A>C (p.Thr1752Pro)
n.5340A>C
19g.38485912A>GCA081744RYR1c.5257A>G (p.Thr1753Ala)
c.5254A>G (p.Thr1752Ala)
n.5340A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38485912A>TCA405654326RYR1c.5257A>T (p.Thr1753Ser)
c.5254A>T (p.Thr1752Ser)
n.5340A>T
19g.38485913C>ACA405654328RYR1c.5258C>A (p.Thr1753Lys)
c.5255C>A (p.Thr1752Lys)
n.5341C>A
 gnomAD v4
19g.38485913C=CA2335046313RYR1c.5258C= (p.Thr1753=)
c.5255C= (p.Thr1752=)
n.5341C=
19g.38485913C>GCA405654330RYR1c.5258C>G (p.Thr1753Arg)
c.5255C>G (p.Thr1752Arg)
n.5341C>G
19g.38485913C>TCA308093442RYR1c.5258C>T (p.Thr1753Ile)
c.5255C>T (p.Thr1752Ile)
n.5341C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38485914A>CCA507353321RYR1c.5259A>C (p.Thr1753=)
c.5256A>C (p.Thr1752=)
n.5342A>C
19g.38485914A>GCA507353320RYR1c.5259A>G (p.Thr1753=)
c.5256A>G (p.Thr1752=)
n.5342A>G
 gnomAD v4
19g.38485914A>TCA507353318RYR1c.5259A>T (p.Thr1753=)
c.5256A>T (p.Thr1752=)
n.5342A>T
19g.38485915G>ACA405654332RYR1c.5260G>A (p.Glu1754Lys)
c.5257G>A (p.Glu1753Lys)
n.5343G>A
19g.38485915G>CCA405654333RYR1c.5260G>C (p.Glu1754Gln)
c.5257G>C (p.Glu1753Gln)
n.5343G>C
19g.38485915G>TCA405654334RYR1c.5260G>T (p.Glu1754Ter)
c.5257G>T (p.Glu1753Ter)
n.5343G>T
 gnomAD v4
19g.38485916A=CA2335046314RYR1c.5261A= (p.Glu1754=)
c.5258A= (p.Glu1753=)
n.5344A=
19g.38485916A>CCA308093443RYR1c.5261A>C (p.Glu1754Ala)
c.5258A>C (p.Glu1753Ala)
n.5344A>C
 dbSNP
19g.38485916A>GCA405654335RYR1c.5261A>G (p.Glu1754Gly)
c.5258A>G (p.Glu1753Gly)
n.5344A>G
19g.38485916A>TCA405654337RYR1c.5261A>T (p.Glu1754Val)
c.5258A>T (p.Glu1753Val)
n.5344A>T
19g.38485917A>CCA405654339RYR1c.5262A>C (p.Glu1754Asp)
c.5259A>C (p.Glu1753Asp)
n.5345A>C
19g.38485917A>GCA507353326RYR1c.5262A>G (p.Glu1754=)
c.5259A>G (p.Glu1753=)
n.5345A>G
19g.38485917A>TCA405654341RYR1c.5262A>T (p.Glu1754Asp)
c.5259A>T (p.Glu1753Asp)
n.5345A>T
19g.38485918_38485925dupCA882053917RYR1c.5263_5270dup (p.His1757GlnfsTer18)
c.5260_5267dup (p.His1756GlnfsTer18)
n.5346_5353dup
 dbSNP gnomAD v3 gnomAD v4
19g.38485918A>CCA405654342RYR1c.5263A>C (p.Asn1755His)
c.5260A>C (p.Asn1754His)
n.5346A>C
19g.38485918A>GCA405654344RYR1c.5263A>G (p.Asn1755Asp)
c.5260A>G (p.Asn1754Asp)
n.5346A>G
 gnomAD v4
19g.38485918A>TCA405654346RYR1c.5263A>T (p.Asn1755Tyr)
c.5260A>T (p.Asn1754Tyr)
n.5346A>T
19g.38485919A>CCA405654347RYR1c.5264A>C (p.Asn1755Thr)
c.5261A>C (p.Asn1754Thr)
n.5347A>C
19g.38485919A>GCA405654349RYR1c.5264A>G (p.Asn1755Ser)
c.5261A>G (p.Asn1754Ser)
n.5347A>G
19g.38485919A>TCA405654350RYR1c.5264A>T (p.Asn1755Ile)
c.5261A>T (p.Asn1754Ile)
n.5347A>T
19g.38485920T>ACA405654352RYR1c.5265T>A (p.Asn1755Lys)
c.5262T>A (p.Asn1754Lys)
n.5348T>A
19g.38485920T>CCA507353328RYR1c.5265T>C (p.Asn1755=)
c.5262T>C (p.Asn1754=)
n.5348T>C
19g.38485920T>GCA405654353RYR1c.5265T>G (p.Asn1755Lys)
c.5262T>G (p.Asn1754Lys)
n.5348T>G
19g.38485921G>ACA405654356RYR1c.5266G>A (p.Gly1756Ser)
c.5263G>A (p.Gly1755Ser)
n.5349G>A
 dbSNP gnomAD v2 gnomAD v4
19g.38485921G>CCA405654357RYR1c.5266G>C (p.Gly1756Arg)
c.5263G>C (p.Gly1755Arg)
n.5349G>C
19g.38485921G=CA2335046315RYR1c.5266G= (p.Gly1756=)
c.5263G= (p.Gly1755=)
n.5349G=
19g.38485921G>TCA405654355RYR1c.5266G>T (p.Gly1756Cys)
c.5263G>T (p.Gly1755Cys)
n.5349G>T
 ClinVar
19g.38485922G>ACA405654358RYR1c.5267G>A (p.Gly1756Asp)
c.5264G>A (p.Gly1755Asp)
n.5350G>A
 dbSNP gnomAD v2 gnomAD v4
19g.38485922G>CCA405654360RYR1c.5267G>C (p.Gly1756Ala)
c.5264G>C (p.Gly1755Ala)
n.5350G>C
19g.38485922G=CA2335046316RYR1c.5267G= (p.Gly1756=)
c.5264G= (p.Gly1755=)
n.5350G=
19g.38485922G>TCA405654362RYR1c.5267G>T (p.Gly1756Val)
c.5264G>T (p.Gly1755Val)
n.5350G>T
 gnomAD v4
19g.38485923T>ACA507353332RYR1c.5268T>A (p.Gly1756=)
c.5265T>A (p.Gly1755=)
n.5351T>A
19g.38485923T>CCA507353333RYR1c.5268T>C (p.Gly1756=)
c.5265T>C (p.Gly1755=)
n.5351T>C
 dbSNP
19g.38485923T>GCA507353335RYR1c.5268T>G (p.Gly1756=)
c.5265T>G (p.Gly1755=)
n.5351T>G
19g.38485923T=CA2335046317RYR1c.5268T= (p.Gly1756=)
c.5265T= (p.Gly1755=)
n.5351T=
19g.38485924C>ACA405654363RYR1c.5269C>A (p.His1757Asn)
c.5266C>A (p.His1756Asn)
n.5352C>A
19g.38485924C>GCA405654365RYR1c.5269C>G (p.His1757Asp)
c.5266C>G (p.His1756Asp)
n.5352C>G
19g.38485924C>TCA405654366RYR1c.5269C>T (p.His1757Tyr)
c.5266C>T (p.His1756Tyr)
n.5352C>T
19g.38485925A=CA2335046318RYR1c.5270A= (p.His1757=)
c.5267A= (p.His1756=)
n.5353A=
19g.38485925A>CCA405654368RYR1c.5270A>C (p.His1757Pro)
c.5267A>C (p.His1756Pro)
n.5353A>C
 dbSNP
19g.38485925A>GCA405654369RYR1c.5270A>G (p.His1757Arg)
c.5267A>G (p.His1756Arg)
n.5353A>G
19g.38485925A>TCA405654371RYR1c.5270A>T (p.His1757Leu)
c.5267A>T (p.His1756Leu)
n.5353A>T
 gnomAD v4
19g.38485926C>ACA066826RYR1c.5271C>A (p.His1757Gln)
c.5268C>A (p.His1756Gln)
n.5354C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38485926C=CA2335046320RYR1c.5271C= (p.His1757=)
c.5268C= (p.His1756=)
n.5354C=
19g.38485926C>GCA405654373RYR1c.5271C>G (p.His1757Gln)
c.5268C>G (p.His1756Gln)
n.5354C>G
19g.38485926C>TCA066829RYR1c.5271C>T (p.His1757=)
c.5268C>T (p.His1756=)
n.5354C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38485930dupCA2335046319RYR1c.5275dup (p.Arg1759ProfsTer?)
c.5272dup (p.Arg1758ProfsTer?)
n.5358dup
 dbSNP
19g.38485930delCA645615240RYR1c.5275del (p.Arg1759GlyfsTer13)
c.5272del (p.Arg1758GlyfsTer13)
n.5358del
 COSMIC
19g.38485927C>ACA405654379RYR1c.5272C>A (p.Pro1758Thr)
c.5269C>A (p.Pro1757Thr)
n.5355C>A
 gnomAD v4
19g.38485927C>GCA405654381RYR1c.5272C>G (p.Pro1758Ala)
c.5269C>G (p.Pro1757Ala)
n.5355C>G
19g.38485927C>TCA405654378RYR1c.5272C>T (p.Pro1758Ser)
c.5269C>T (p.Pro1757Ser)
n.5355C>T
 gnomAD v4
19g.38485928C>ACA405654384RYR1c.5273C>A (p.Pro1758His)
c.5270C>A (p.Pro1757His)
n.5356C>A
19g.38485928C=CA2335046321RYR1c.5273C= (p.Pro1758=)
c.5270C= (p.Pro1757=)
n.5356C=
19g.38485928C>GCA405654386RYR1c.5273C>G (p.Pro1758Arg)
c.5270C>G (p.Pro1757Arg)
n.5356C>G
 ClinVar gnomAD v4
19g.38485928C>TCA066833RYR1c.5273C>T (p.Pro1758Leu)
c.5270C>T (p.Pro1757Leu)
n.5356C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38485929C>ACA081746RYR1c.5274C>A (p.Pro1758=)
c.5271C>A (p.Pro1757=)
n.5357C>A
19g.38485929C>GCA507353341RYR1c.5274C>G (p.Pro1758=)
c.5271C>G (p.Pro1757=)
n.5357C>G
19g.38485929C>TCA081747RYR1c.5274C>T (p.Pro1758=)
c.5271C>T (p.Pro1757=)
n.5357C>T
19g.38485930C>ACA507353343RYR1c.5275C>A (p.Arg1759=)
c.5272C>A (p.Arg1758=)
n.5358C>A
19g.38485930C=CA2335046322RYR1c.5275C= (p.Arg1759=)
c.5272C= (p.Arg1758=)
n.5358C=
19g.38485930C>GCA405654390RYR1c.5275C>G (p.Arg1759Gly)
c.5272C>G (p.Arg1758Gly)
n.5358C>G
 dbSNP
19g.38485930C>TCA066837RYR1c.5275C>T (p.Arg1759Trp)
c.5272C>T (p.Arg1758Trp)
n.5358C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
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

Number of alleles fetched