Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
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
 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
 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
19g.38496295T>ACA405665984RYR1c.6629T>A (p.Val2210Asp)
c.6626T>A (p.Val2209Asp)
c.81T>A
n.6712T>A
 ClinVar dbSNP
19g.38496295T>CCA405665986RYR1c.6629T>C (p.Val2210Ala)
c.6626T>C (p.Val2209Ala)
c.81T>C
n.6712T>C
19g.38496295T>GCA405665989RYR1c.6629T>G (p.Val2210Gly)
c.6626T>G (p.Val2209Gly)
c.81T>G
n.6712T>G
19g.38496295T=CA2335051171RYR1c.6629T= (p.Val2210=)
c.6626T= (p.Val2209=)
c.81T=
n.6712T=
19g.38496296C>ACA507353621RYR1c.6630C>A (p.Val2210=)
c.6627C>A (p.Val2209=)
c.82C>A
n.6713C>A
19g.38496296C>GCA507353622RYR1c.6630C>G (p.Val2210=)
c.6627C>G (p.Val2209=)
c.82C>G
n.6713C>G
19g.38496296C>TCA507353624RYR1c.6630C>T (p.Val2210=)
c.6627C>T (p.Val2209=)
c.82C>T
n.6713C>T
19g.38496297A=CA2335051172RYR1c.6631A= (p.Met2211=)
c.6628A= (p.Met2210=)
c.83A=
n.6714A=
19g.38496297A>CCA405665993RYR1c.6631A>C (p.Met2211Leu)
c.6628A>C (p.Met2210Leu)
c.83A>C
n.6714A>C
 ClinVar dbSNP
19g.38496297A>GCA405665994RYR1c.6631A>G (p.Met2211Val)
c.6628A>G (p.Met2210Val)
c.83A>G
n.6714A>G
19g.38496297A>TCA405665996RYR1c.6631A>T (p.Met2211Leu)
c.6628A>T (p.Met2210Leu)
c.83A>T
n.6714A>T
19g.38496298T>ACA405666000RYR1c.6632T>A (p.Met2211Lys)
c.6629T>A (p.Met2210Lys)
c.84T>A
n.6715T>A
19g.38496298T>CCA405666004RYR1c.6632T>C (p.Met2211Thr)
c.6629T>C (p.Met2210Thr)
c.84T>C
n.6715T>C
 gnomAD v4
19g.38496298T>GCA405666002RYR1c.6632T>G (p.Met2211Arg)
c.6629T>G (p.Met2210Arg)
c.84T>G
n.6715T>G
19g.38496299G>ACA405666008RYR1c.6633G>A (p.Met2211Ile)
c.6630G>A (p.Met2210Ile)
c.85G>A
n.6716G>A
19g.38496299G>CCA405666010RYR1c.6633G>C (p.Met2211Ile)
c.6630G>C (p.Met2210Ile)
c.85G>C
n.6716G>C
19g.38496299G>TCA405666013RYR1c.6633G>T (p.Met2211Ile)
c.6630G>T (p.Met2210Ile)
c.85G>T
n.6716G>T
19g.38496300G>ACA405666016RYR1c.6634G>A (p.Val2212Ile)
c.6631G>A (p.Val2211Ile)
c.86G>A
n.6717G>A
19g.38496300G>CCA405666019RYR1c.6634G>C (p.Val2212Leu)
c.6631G>C (p.Val2211Leu)
c.86G>C
n.6717G>C
19g.38496300G>TCA405666021RYR1c.6634G>T (p.Val2212Phe)
c.6631G>T (p.Val2211Phe)
c.86G>T
n.6717G>T
19g.38496301T>ACA024628RYR1c.6635T>A (p.Val2212Asp)
c.6632T>A (p.Val2211Asp)
c.87T>A
n.6718T>A
 ClinVar dbSNP
19g.38496301T>CCA024631RYR1c.6635T>C (p.Val2212Ala)
c.6632T>C (p.Val2211Ala)
c.87T>C
n.6718T>C
 ClinVar dbSNP
19g.38496301T>GCA405666028RYR1c.6635T>G (p.Val2212Gly)
c.6632T>G (p.Val2211Gly)
c.87T>G
n.6718T>G
19g.38496301T=CA2335051173RYR1c.6635T= (p.Val2212=)
c.6632T= (p.Val2211=)
c.87T=
n.6718T=
19g.38496302C>ACA068495RYR1c.6636C>A (p.Val2212=)
c.6633C>A (p.Val2211=)
c.88C>A
n.6719C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38496302C=CA2335051174RYR1c.6636C= (p.Val2212=)
c.6633C= (p.Val2211=)
c.88C=
n.6719C=
19g.38496302C>GCA507353631RYR1c.6636C>G (p.Val2212=)
c.6633C>G (p.Val2211=)
c.88C>G
n.6719C>G
19g.38496302C>TCA507353630RYR1c.6636C>T (p.Val2212=)
c.6633C>T (p.Val2211=)
c.88C>T
n.6719C>T
19g.38496303A>CCA405666040RYR1c.6637A>C (p.Asn2213His)
c.6634A>C (p.Asn2212His)
c.89A>C
n.6720A>C
19g.38496303A>GCA405666041RYR1c.6637A>G (p.Asn2213Asp)
c.6634A>G (p.Asn2212Asp)
c.89A>G
n.6720A>G
 COSMIC
19g.38496303A>TCA405666038RYR1c.6637A>T (p.Asn2213Tyr)
c.6634A>T (p.Asn2212Tyr)
c.89A>T
n.6720A>T
19g.38496304A>CCA405666044RYR1c.6638A>C (p.Asn2213Thr)
c.6635A>C (p.Asn2212Thr)
c.90A>C
n.6721A>C
19g.38496304A>GCA405666046RYR1c.6638A>G (p.Asn2213Ser)
c.6635A>G (p.Asn2212Ser)
c.90A>G
n.6721A>G
 gnomAD v4
19g.38496304A>TCA405666048RYR1c.6638A>T (p.Asn2213Ile)
c.6635A>T (p.Asn2212Ile)
c.90A>T
n.6721A>T
 COSMIC
19g.38496305C>ACA082146RYR1c.6639C>A (p.Asn2213Lys)
c.6636C>A (p.Asn2212Lys)
c.91C>A
n.6722C>A
 COSMIC
19g.38496305C=CA2335051175RYR1c.6639C= (p.Asn2213=)
c.6636C= (p.Asn2212=)
c.91C=
n.6722C=
19g.38496305C>GCA405666051RYR1c.6639C>G (p.Asn2213Lys)
c.6636C>G (p.Asn2212Lys)
c.91C>G
n.6722C>G
19g.38496305C>TCA068499RYR1c.6639C>T (p.Asn2213=)
c.6636C>T (p.Asn2212=)
c.91C>T
n.6722C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38496306G>ACA024634RYR1c.6640G>A (p.Val2214Ile)
c.6637G>A (p.Val2213Ile)
c.92G>A
n.6723G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38496306G>CCA405666057RYR1c.6640G>C (p.Val2214Leu)
c.6637G>C (p.Val2213Leu)
c.92G>C
n.6723G>C
 COSMIC
19g.38496306G=CA2335051176RYR1c.6640G= (p.Val2214=)
c.6637G= (p.Val2213=)
c.92G=
n.6723G=
19g.38496306G>TCA405666060RYR1c.6640G>T (p.Val2214Phe)
c.6637G>T (p.Val2213Phe)
c.92G>T
n.6723G>T
19g.38496307T>ACA405666062RYR1c.6641T>A (p.Val2214Asp)
c.6638T>A (p.Val2213Asp)
c.93T>A
n.6724T>A
19g.38496307T>CCA405666065RYR1c.6641T>C (p.Val2214Ala)
c.6638T>C (p.Val2213Ala)
c.93T>C
n.6724T>C
19g.38496307T>GCA405666067RYR1c.6641T>G (p.Val2214Gly)
c.6638T>G (p.Val2213Gly)
c.93T>G
n.6724T>G
19g.38496308C>ACA507353551RYR1c.6642C>A (p.Val2214=)
c.6639C>A (p.Val2213=)
c.94C>A
n.6725C>A
 gnomAD v4
19g.38496308C=CA2335051177RYR1c.6642C= (p.Val2214=)
c.6639C= (p.Val2213=)
c.94C=
n.6725C=
19g.38496308C>GCA507353552RYR1c.6642C>G (p.Val2214=)
c.6639C>G (p.Val2213=)
c.94C>G
n.6725C>G
19g.38496308C>TCA082147RYR1c.6642C>T (p.Val2214=)
c.6639C>T (p.Val2213=)
c.94C>T
n.6725C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38496309C>ACA405666072RYR1c.6643C>A (p.Leu2215Ile)
c.6640C>A (p.Leu2214Ile)
c.95C>A
n.6726C>A
19g.38496309C>GCA405666074RYR1c.6643C>G (p.Leu2215Val)
c.6640C>G (p.Leu2214Val)
c.95C>G
n.6726C>G
19g.38496309C>TCA405666070RYR1c.6643C>T (p.Leu2215Phe)
c.6640C>T (p.Leu2214Phe)
c.95C>T
n.6726C>T
19g.38496310T>ACA405666077RYR1c.6644T>A (p.Leu2215His)
c.6641T>A (p.Leu2214His)
c.96T>A
n.6727T>A
19g.38496310T>CCA405666080RYR1c.6644T>C (p.Leu2215Pro)
c.6641T>C (p.Leu2214Pro)
c.96T>C
n.6727T>C
19g.38496310T>GCA405666081RYR1c.6644T>G (p.Leu2215Arg)
c.6641T>G (p.Leu2214Arg)
c.96T>G
n.6727T>G
19g.38496311C>ACA507353557RYR1c.6645C>A (p.Leu2215=)
c.6642C>A (p.Leu2214=)
c.97C>A
n.6728C>A
19g.38496311C=CA2335051178RYR1c.6645C= (p.Leu2215=)
c.6642C= (p.Leu2214=)
c.97C=
n.6728C=
19g.38496311C>GCA507353559RYR1c.6645C>G (p.Leu2215=)
c.6642C>G (p.Leu2214=)
c.97C>G
n.6728C>G
19g.38496311C>TCA024637RYR1c.6645C>T (p.Leu2215=)
c.6642C>T (p.Leu2214=)
c.97C>T
n.6728C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38496312G>ACA405666089RYR1c.6646G>A (p.Gly2216Arg)
c.6643G>A (p.Gly2215Arg)
c.98G>A
n.6729G>A
19g.38496312G>CCA405666087RYR1c.6646G>C (p.Gly2216Arg)
c.6643G>C (p.Gly2215Arg)
c.98G>C
n.6729G>C
19g.38496312G>TCA405666086RYR1c.6646G>T (p.Gly2216Trp)
c.6643G>T (p.Gly2215Trp)
c.98G>T
n.6729G>T
19g.38496316dupCA2584899554RYR1c.6650dup (p.Gly2218ArgfsTer?)
c.6647dup (p.Gly2217ArgfsTer?)
c.102dup
n.6733dup
 gnomAD v4
19g.38496313G>ACA405666091RYR1c.6647G>A (p.Gly2216Glu)
c.6644G>A (p.Gly2215Glu)
c.99G>A
n.6730G>A
19g.38496313G>CCA405666093RYR1c.6647G>C (p.Gly2216Ala)
c.6644G>C (p.Gly2215Ala)
c.99G>C
n.6730G>C
19g.38496313G>TCA405666095RYR1c.6647G>T (p.Gly2216Val)
c.6644G>T (p.Gly2215Val)
c.99G>T
n.6730G>T
19g.38496314G>ACA507353564RYR1c.6648G>A (p.Gly2216=)
c.6645G>A (p.Gly2215=)
c.100G>A
n.6731G>A
 dbSNP gnomAD v4
19g.38496314G>CCA507353566RYR1c.6648G>C (p.Gly2216=)
c.6645G>C (p.Gly2215=)
c.100G>C
n.6731G>C
19g.38496314G>TCA507353567RYR1c.6648G>T (p.Gly2216=)
c.6645G>T (p.Gly2215=)
c.100G>T
n.6731G>T
19g.38496315G>ACA405666099RYR1c.6649G>A (p.Gly2217Ser)
c.6646G>A (p.Gly2216Ser)
c.101G>A
n.6732G>A
 dbSNP gnomAD v2 gnomAD v4
19g.38496315G>CCA405666102RYR1c.6649G>C (p.Gly2217Arg)
c.6646G>C (p.Gly2216Arg)
c.101G>C
n.6732G>C
19g.38496315G=CA2335051179RYR1c.6649G= (p.Gly2217=)
c.6646G= (p.Gly2216=)
c.101G=
n.6732G=
19g.38496315G>TCA405666104RYR1c.6649G>T (p.Gly2217Cys)
c.6646G>T (p.Gly2216Cys)
c.101G>T
n.6732G>T
19g.38496316G>ACA405666112RYR1c.6650G>A (p.Gly2217Asp)
c.6647G>A (p.Gly2216Asp)
c.102G>A
n.6733G>A
 gnomAD v4
19g.38496316G>CCA405666109RYR1c.6650G>C (p.Gly2217Ala)
c.6647G>C (p.Gly2216Ala)
c.102G>C
n.6733G>C
19g.38496316G>TCA405666108RYR1c.6650G>T (p.Gly2217Val)
c.6647G>T (p.Gly2216Val)
c.102G>T
n.6733G>T
19g.38496317C>ACA507353569RYR1c.6651C>A (p.Gly2217=)
c.6648C>A (p.Gly2216=)
c.103C>A
n.6734C>A
 gnomAD v3 gnomAD v4
19g.38496317C=CA2335051180RYR1c.6651C= (p.Gly2217=)
c.6648C= (p.Gly2216=)
c.103C=
n.6734C=
19g.38496317C>GCA507353570RYR1c.6651C>G (p.Gly2217=)
c.6648C>G (p.Gly2216=)
c.103C>G
n.6734C>G
19g.38496317C>TCA068509RYR1c.6651C>T (p.Gly2217=)
c.6648C>T (p.Gly2216=)
c.103C>T
n.6734C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38496318G>ACA068513RYR1c.6652G>A (p.Gly2218Ser)
c.6649G>A (p.Gly2217Ser)
c.104G>A
n.6735G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38496318G>CCA405666115RYR1c.6652G>C (p.Gly2218Arg)
c.6649G>C (p.Gly2217Arg)
c.104G>C
n.6735G>C
19g.38496318G=CA2335051181RYR1c.6652G= (p.Gly2218=)
c.6649G= (p.Gly2217=)
c.104G=
n.6735G=
19g.38496318G>TCA405666119RYR1c.6652G>T (p.Gly2218Cys)
c.6649G>T (p.Gly2217Cys)
c.104G>T
n.6735G>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.38496319G>ACA405666120RYR1c.6653G>A (p.Gly2218Asp)
c.6650G>A (p.Gly2217Asp)
c.105G>A
n.6736G>A
 dbSNP gnomAD v4
19g.38496319G>CCA405666122RYR1c.6653G>C (p.Gly2218Ala)
c.6650G>C (p.Gly2217Ala)
c.105G>C
n.6736G>C
19g.38496319G=CA2335051182RYR1c.6653G= (p.Gly2218=)
c.6650G= (p.Gly2217=)
c.105G=
n.6736G=
19g.38496319G>TCA405666121RYR1c.6653G>T (p.Gly2218Val)
c.6650G>T (p.Gly2217Val)
c.105G>T
n.6736G>T
19g.38496320C>ACA507353582RYR1c.6654C>A (p.Gly2218=)
c.6651C>A (p.Gly2217=)
c.106C>A
n.6737C>A
19g.38496320C=CA2335051183RYR1c.6654C= (p.Gly2218=)
c.6651C= (p.Gly2217=)
c.106C=
n.6737C=
19g.38496320C>GCA507353583RYR1c.6654C>G (p.Gly2218=)
c.6651C>G (p.Gly2217=)
c.106C>G
n.6737C>G
19g.38496320C>TCA068516RYR1c.6654C>T (p.Gly2218=)
c.6651C>T (p.Gly2217=)
c.106C>T
n.6737C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38496321G>ACA068520RYR1c.6655G>A (p.Glu2219Lys)
c.6652G>A (p.Glu2218Lys)
c.107G>A
n.6738G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38496321G>CCA405666123RYR1c.6655G>C (p.Glu2219Gln)
c.6652G>C (p.Glu2218Gln)
c.107G>C
n.6738G>C
19g.38496321G=CA2335051184RYR1c.6655G= (p.Glu2219=)
c.6652G= (p.Glu2218=)
c.107G=
n.6738G=
19g.38496321G>TCA405666124RYR1c.6655G>T (p.Glu2219Ter)
c.6652G>T (p.Glu2218Ter)
c.107G>T
n.6738G>T
19g.38496322A>CCA405666125RYR1c.6656A>C (p.Glu2219Ala)
c.6653A>C (p.Glu2218Ala)
c.108A>C
n.6739A>C
19g.38496322A>GCA405666126RYR1c.6656A>G (p.Glu2219Gly)
c.6653A>G (p.Glu2218Gly)
c.108A>G
n.6739A>G
19g.38496322A>TCA405666127RYR1c.6656A>T (p.Glu2219Val)
c.6653A>T (p.Glu2218Val)
c.108A>T
n.6739A>T
19g.38496323G>ACA068522RYR1c.6657G>A (p.Glu2219=)
c.6654G>A (p.Glu2218=)
c.109G>A
n.6740G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38496323G>CCA405666128RYR1c.6657G>C (p.Glu2219Asp)
c.6654G>C (p.Glu2218Asp)
c.109G>C
n.6740G>C
 gnomAD v4
19g.38496323G=CA2335051185RYR1c.6657G= (p.Glu2219=)
c.6654G= (p.Glu2218=)
c.109G=
n.6740G=
19g.38496323G>TCA405666129RYR1c.6657G>T (p.Glu2219Asp)
c.6654G>T (p.Glu2218Asp)
c.109G>T
n.6740G>T
 dbSNP gnomAD v2 gnomAD v4
19g.38496324T>ACA405666132RYR1c.6658T>A (p.Ser2220Thr)
c.6655T>A (p.Ser2219Thr)
c.110T>A
n.6741T>A
19g.38496324T>CCA405666131RYR1c.6658T>C (p.Ser2220Pro)
c.6655T>C (p.Ser2219Pro)
c.110T>C
n.6741T>C
19g.38496324T>GCA405666130RYR1c.6658T>G (p.Ser2220Ala)
c.6655T>G (p.Ser2219Ala)
c.110T>G
n.6741T>G
19g.38496325C>ACA405666133RYR1c.6659C>A (p.Ser2220Tyr)
c.6656C>A (p.Ser2219Tyr)
c.111C>A
n.6742C>A
19g.38496325C>GCA405666134RYR1c.6659C>G (p.Ser2220Cys)
c.6656C>G (p.Ser2219Cys)
c.111C>G
n.6742C>G
19g.38496325C>TCA405666135RYR1c.6659C>T (p.Ser2220Phe)
c.6656C>T (p.Ser2219Phe)
c.111C>T
n.6742C>T
19g.38496326C>ACA507353599RYR1c.6660C>A (p.Ser2220=)
c.6657C>A (p.Ser2219=)
c.112C>A
n.6743C>A
19g.38496326C>GCA507353601RYR1c.6660C>G (p.Ser2220=)
c.6657C>G (p.Ser2219=)
c.112C>G
n.6743C>G
19g.38496326C>TCA507353598RYR1c.6660C>T (p.Ser2220=)
c.6657C>T (p.Ser2219=)
c.112C>T
n.6743C>T
19g.38496327A>CCA405666136RYR1c.6661A>C (p.Lys2221Gln)
c.6658A>C (p.Lys2220Gln)
c.113A>C
n.6744A>C
19g.38496327A>GCA405666137RYR1c.6661A>G (p.Lys2221Glu)
c.6658A>G (p.Lys2220Glu)
c.113A>G
n.6744A>G
19g.38496327A>TCA405666138RYR1c.6661A>T (p.Lys2221Ter)
c.6658A>T (p.Lys2220Ter)
c.113A>T
n.6744A>T
19g.38496328A=CA2335051186RYR1c.6662A= (p.Lys2221=)
c.6659A= (p.Lys2220=)
c.114A=
n.6745A=
19g.38496328A>CCA405666139RYR1c.6662A>C (p.Lys2221Thr)
c.6659A>C (p.Lys2220Thr)
c.114A>C
n.6745A>C
19g.38496328A>GCA405666140RYR1c.6662A>G (p.Lys2221Arg)
c.6659A>G (p.Lys2220Arg)
c.114A>G
n.6745A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38496328A>TCA405666141RYR1c.6662A>T (p.Lys2221Met)
c.6659A>T (p.Lys2220Met)
c.114A>T
n.6745A>T
19g.38496329G>ACA507353610RYR1c.6663G>A (p.Lys2221=)
c.6660G>A (p.Lys2220=)
c.115G>A
n.6746G>A
19g.38496329G>CCA405666142RYR1c.6663G>C (p.Lys2221Asn)
c.6660G>C (p.Lys2220Asn)
c.115G>C
n.6746G>C
19g.38496329G>TCA405666143RYR1c.6663G>T (p.Lys2221Asn)
c.6660G>T (p.Lys2220Asn)
c.115G>T
n.6746G>T
19g.38496330G>ACA068529RYR1c.6663+1G>A (n.6663+1G>A)
c.6660+1G>A (n.6660+1G>A)
c.115+1G>A
n.6746+1G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38496330G>CCA405666145RYR1c.6663+1G>C (n.6663+1G>C)
c.6660+1G>C (n.6660+1G>C)
c.115+1G>C
n.6746+1G>C
19g.38496330G=CA2335051187RYR1c.6663+1G= (n.6663+1G=)
c.6660+1G= (n.6660+1G=)
c.115+1G=
n.6746+1G=
19g.38496330G>TCA405666144RYR1c.6663+1G>T (n.6663+1G>T)
c.6660+1G>T (n.6660+1G>T)
c.115+1G>T
n.6746+1G>T
19g.38496331T>ACA405666146RYR1c.6663+2T>A (n.6663+2T>A)
c.6660+2T>A (n.6660+2T>A)
c.115+2T>A
n.6746+2T>A
19g.38496331T>CCA405666147RYR1c.6663+2T>C (n.6663+2T>C)
c.6660+2T>C (n.6660+2T>C)
c.115+2T>C
n.6746+2T>C
 ClinVar
19g.38496331T>GCA405666148RYR1c.6663+2T>G (n.6663+2T>G)
c.6660+2T>G (n.6660+2T>G)
c.115+2T>G
n.6746+2T>G
19g.38496333A>CCA2584899572RYR1c.6663+4A>C (n.6663+4A>C)
c.6660+4A>C (n.6660+4A>C)
c.115+4A>C
n.6746+4A>C
 gnomAD v4
19g.38496334G>ACA2584899573RYR1c.6663+5G>A (n.6663+5G>A)
c.6660+5G>A (n.6660+5G>A)
c.115+5G>A
n.6746+5G>A
 gnomAD v4
19g.38496335G>ACA2576770961RYR1c.6663+6G>A (n.6663+6G>A)
c.6660+6G>A (n.6660+6G>A)
c.115+6G>A
n.6746+6G>A
 ClinVar gnomAD v4
19g.38496336G>ACA915952997RYR1c.6663+7G>A (n.6663+7G>A)
c.6660+7G>A (n.6660+7G>A)
c.115+7G>A
n.6746+7G>A
 ClinVar dbSNP
19g.38496336G=CA2335051188RYR1c.6663+7G= (n.6663+7G=)
c.6660+7G= (n.6660+7G=)
c.115+7G=
n.6746+7G=
19g.38496337C>ACA2499585132RYR1c.6663+8C>A (n.6663+8C>A)
c.6660+8C>A (n.6660+8C>A)
c.115+8C>A
n.6746+8C>A
 ClinVar
19g.38496337C=CA2335051189RYR1c.6663+8C= (n.6663+8C=)
c.6660+8C= (n.6660+8C=)
c.115+8C=
n.6746+8C=
19g.38496337C>GCA633066108RYR1c.6663+8C>G (n.6663+8C>G)
c.6660+8C>G (n.6660+8C>G)
c.115+8C>G
n.6746+8C>G
 dbSNP gnomAD v2 gnomAD v4
19g.38496338C=CA2335051190RYR1c.6663+9C= (n.6663+9C=)
c.6660+9C= (n.6660+9C=)
c.115+9C=
n.6746+9C=
19g.38496338C>TCA068544RYR1c.6663+9C>T (n.6663+9C>T)
c.6660+9C>T (n.6660+9C>T)
c.115+9C>T
n.6746+9C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched