Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38496410A>CCA405666159RYR1c.6665A>C (p.Glu2222Ala)
c.6662A>C (p.Glu2221Ala)
c.117A>C
n.6748A>C
19g.38496410A>GCA405666158RYR1c.6665A>G (p.Glu2222Gly)
c.6662A>G (p.Glu2221Gly)
c.117A>G
n.6748A>G
19g.38496410A>TCA405666157RYR1c.6665A>T (p.Glu2222Val)
c.6662A>T (p.Glu2221Val)
c.117A>T
n.6748A>T
19g.38496411G>ACA507353619RYR1c.6666G>A (p.Glu2222=)
c.6663G>A (p.Glu2221=)
c.118G>A
n.6749G>A
 ClinVar
19g.38496411G>CCA405666160RYR1c.6666G>C (p.Glu2222Asp)
c.6663G>C (p.Glu2221Asp)
c.118G>C
n.6749G>C
19g.38496411G>TCA405666161RYR1c.6666G>T (p.Glu2222Asp)
c.6663G>T (p.Glu2221Asp)
c.118G>T
n.6749G>T
 gnomAD v4
19g.38496412A>CCA405666162RYR1c.6667A>C (p.Ile2223Leu)
c.6664A>C (p.Ile2222Leu)
c.119A>C
n.6750A>C
19g.38496412A>GCA405666163RYR1c.6667A>G (p.Ile2223Val)
c.6664A>G (p.Ile2222Val)
c.119A>G
n.6750A>G
19g.38496412A>TCA405666164RYR1c.6667A>T (p.Ile2223Phe)
c.6664A>T (p.Ile2222Phe)
c.119A>T
n.6750A>T
19g.38496413T>ACA405666165RYR1c.6668T>A (p.Ile2223Asn)
c.6665T>A (p.Ile2222Asn)
c.120T>A
n.6751T>A
19g.38496413T>CCA405666166RYR1c.6668T>C (p.Ile2223Thr)
c.6665T>C (p.Ile2222Thr)
c.120T>C
n.6751T>C
19g.38496413T>GCA405666167RYR1c.6668T>G (p.Ile2223Ser)
c.6665T>G (p.Ile2222Ser)
c.120T>G
n.6751T>G
19g.38496414C>ACA507353620RYR1c.6669C>A (p.Ile2223=)
c.6666C>A (p.Ile2222=)
c.121C>A
n.6752C>A
19g.38496414C=CA2335051229RYR1c.6669C= (p.Ile2223=)
c.6666C= (p.Ile2222=)
c.121C=
n.6752C=
19g.38496414C>GCA405666168RYR1c.6669C>G (p.Ile2223Met)
c.6666C>G (p.Ile2222Met)
c.121C>G
n.6752C>G
19g.38496414C>TCA024640RYR1c.6669C>T (p.Ile2223=)
c.6666C>T (p.Ile2222=)
c.121C>T
n.6752C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.38496415delCA2814345954RYR1c.6670del (p.Arg2224AlafsTer6)
c.6667del (p.Arg2223AlafsTer6)
c.122del
n.6753del
19g.38496415C>ACA405666169RYR1c.6670C>A (p.Arg2224Ser)
c.6667C>A (p.Arg2223Ser)
c.122C>A
n.6753C>A
19g.38496415C=CA2335051230RYR1c.6670C= (p.Arg2224=)
c.6667C= (p.Arg2223=)
c.122C=
n.6753C=
19g.38496415C>GCA405666170RYR1c.6670C>G (p.Arg2224Gly)
c.6667C>G (p.Arg2223Gly)
c.122C>G
n.6753C>G
19g.38496415C>TCA068565RYR1c.6670C>T (p.Arg2224Cys)
c.6667C>T (p.Arg2223Cys)
c.122C>T
n.6753C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38496416G>ACA308104313RYR1c.6671G>A (p.Arg2224His)
c.6668G>A (p.Arg2223His)
c.123G>A
n.6754G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38496416G>CCA405666172RYR1c.6671G>C (p.Arg2224Pro)
c.6668G>C (p.Arg2223Pro)
c.123G>C
n.6754G>C
19g.38496416G=CA2335051231RYR1c.6671G= (p.Arg2224=)
c.6668G= (p.Arg2223=)
c.123G=
n.6754G=
19g.38496416G>TCA405666171RYR1c.6671G>T (p.Arg2224Leu)
c.6668G>T (p.Arg2223Leu)
c.123G>T
n.6754G>T
 gnomAD v4
19g.38496417C>ACA507353626RYR1c.6672C>A (p.Arg2224=)
c.6669C>A (p.Arg2223=)
c.124C>A
n.6755C>A
19g.38496417C>GCA507353625RYR1c.6672C>G (p.Arg2224=)
c.6669C>G (p.Arg2223=)
c.124C>G
n.6755C>G
19g.38496417C>TCA082167RYR1c.6672C>T (p.Arg2224=)
c.6669C>T (p.Arg2223=)
c.124C>T
n.6755C>T
19g.38496418T>ACA405666173RYR1c.6673T>A (p.Phe2225Ile)
c.6670T>A (p.Phe2224Ile)
c.125T>A
n.6756T>A
19g.38496418T>CCA405666174RYR1c.6673T>C (p.Phe2225Leu)
c.6670T>C (p.Phe2224Leu)
c.125T>C
n.6756T>C
19g.38496418T>GCA405666175RYR1c.6673T>G (p.Phe2225Val)
c.6670T>G (p.Phe2224Val)
c.125T>G
n.6756T>G
19g.38496419T>ACA405666176RYR1c.6674T>A (p.Phe2225Tyr)
c.6671T>A (p.Phe2224Tyr)
c.126T>A
n.6757T>A
19g.38496419T>CCA405666177RYR1c.6674T>C (p.Phe2225Ser)
c.6671T>C (p.Phe2224Ser)
c.126T>C
n.6757T>C
19g.38496419T>GCA405666178RYR1c.6674T>G (p.Phe2225Cys)
c.6671T>G (p.Phe2224Cys)
c.126T>G
n.6757T>G
19g.38496420C>ACA405666179RYR1c.6675C>A (p.Phe2225Leu)
c.6672C>A (p.Phe2224Leu)
c.127C>A
n.6758C>A
19g.38496420C>GCA405666180RYR1c.6675C>G (p.Phe2225Leu)
c.6672C>G (p.Phe2224Leu)
c.127C>G
n.6758C>G
 ClinVar
19g.38496420C>TCA082161RYR1c.6675C>T (p.Phe2225=)
c.6672C>T (p.Phe2224=)
c.127C>T
n.6758C>T
19g.38496421C>ACA405666181RYR1c.6676C>A (p.Pro2226Thr)
c.6673C>A (p.Pro2225Thr)
c.128C>A
n.6759C>A
19g.38496421C>GCA405666182RYR1c.6676C>G (p.Pro2226Ala)
c.6673C>G (p.Pro2225Ala)
c.128C>G
n.6759C>G
19g.38496421C>TCA405666183RYR1c.6676C>T (p.Pro2226Ser)
c.6673C>T (p.Pro2225Ser)
c.128C>T
n.6759C>T
 ClinVar
19g.38496422C>ACA405666184RYR1c.6677C>A (p.Pro2226His)
c.6674C>A (p.Pro2225His)
c.129C>A
n.6760C>A
19g.38496422C>GCA405666185RYR1c.6677C>G (p.Pro2226Arg)
c.6674C>G (p.Pro2225Arg)
c.129C>G
n.6760C>G
 gnomAD v4
19g.38496422C>TCA405666186RYR1c.6677C>T (p.Pro2226Leu)
c.6674C>T (p.Pro2225Leu)
c.129C>T
n.6760C>T
19g.38496423C>ACA507353632RYR1c.6678C>A (p.Pro2226=)
c.6675C>A (p.Pro2225=)
c.130C>A
n.6761C>A
19g.38496423C>GCA507353633RYR1c.6678C>G (p.Pro2226=)
c.6675C>G (p.Pro2225=)
c.130C>G
n.6761C>G
19g.38496423C>TCA507353634RYR1c.6678C>T (p.Pro2226=)
c.6675C>T (p.Pro2225=)
c.130C>T
n.6761C>T
19g.38496424A=CA2335051232RYR1c.6679A= (p.Lys2227=)
c.6676A= (p.Lys2226=)
c.131A=
n.6762A=
19g.38496424A>CCA405666188RYR1c.6679A>C (p.Lys2227Gln)
c.6676A>C (p.Lys2226Gln)
c.131A>C
n.6762A>C
19g.38496424A>GCA068569RYR1c.6679A>G (p.Lys2227Glu)
c.6676A>G (p.Lys2226Glu)
c.131A>G
n.6762A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38496424A>TCA405666187RYR1c.6679A>T (p.Lys2227Ter)
c.6676A>T (p.Lys2226Ter)
c.131A>T
n.6762A>T
19g.38496425A>CCA405666189RYR1c.6680A>C (p.Lys2227Thr)
c.6677A>C (p.Lys2226Thr)
c.132A>C
n.6763A>C
19g.38496425A>GCA405666190RYR1c.6680A>G (p.Lys2227Arg)
c.6677A>G (p.Lys2226Arg)
c.132A>G
n.6763A>G
19g.38496425A>TCA405666191RYR1c.6680A>T (p.Lys2227Met)
c.6677A>T (p.Lys2226Met)
c.132A>T
n.6763A>T
19g.38496425_38496429delCA2584899602RYR1c.6680_6684del (p.Lys2227SerfsTer24)
c.6677_6681del (p.Lys2226SerfsTer24)
c.132_136del
n.6763_6767del
 gnomAD v4
19g.38496426G>ACA507353636RYR1c.6681G>A (p.Lys2227=)
c.6678G>A (p.Lys2226=)
c.133G>A
n.6764G>A
 dbSNP
19g.38496426G>CCA405666192RYR1c.6681G>C (p.Lys2227Asn)
c.6678G>C (p.Lys2226Asn)
c.133G>C
n.6764G>C
19g.38496426G=CA2335051233RYR1c.6681G= (p.Lys2227=)
c.6678G= (p.Lys2226=)
c.133G=
n.6764G=
19g.38496426G>TCA405666193RYR1c.6681G>T (p.Lys2227Asn)
c.6678G>T (p.Lys2226Asn)
c.133G>T
n.6764G>T
 gnomAD v4
19g.38496427A>CCA405666194RYR1c.6682A>C (p.Met2228Leu)
c.6679A>C (p.Met2227Leu)
c.134A>C
n.6765A>C
19g.38496427A>GCA082169RYR1c.6682A>G (p.Met2228Val)
c.6679A>G (p.Met2227Val)
c.134A>G
n.6765A>G
19g.38496427A>TCA405666195RYR1c.6682A>T (p.Met2228Leu)
c.6679A>T (p.Met2227Leu)
c.134A>T
n.6765A>T
19g.38496428T>ACA405666196RYR1c.6683T>A (p.Met2228Lys)
c.6680T>A (p.Met2227Lys)
c.135T>A
n.6766T>A
 gnomAD v4
19g.38496428T>CCA405666197RYR1c.6683T>C (p.Met2228Thr)
c.6680T>C (p.Met2227Thr)
c.135T>C
n.6766T>C
 dbSNP gnomAD v2 gnomAD v4
19g.38496428T>GCA405666198RYR1c.6683T>G (p.Met2228Arg)
c.6680T>G (p.Met2227Arg)
c.135T>G
n.6766T>G
19g.38496428T=CA2335051234RYR1c.6683T= (p.Met2228=)
c.6680T= (p.Met2227=)
c.135T=
n.6766T=
19g.38496429G>ACA405666201RYR1c.6684G>A (p.Met2228Ile)
c.6681G>A (p.Met2227Ile)
c.136G>A
n.6767G>A
 gnomAD v4
19g.38496429G>CCA405666200RYR1c.6684G>C (p.Met2228Ile)
c.6681G>C (p.Met2227Ile)
c.136G>C
n.6767G>C
19g.38496429G>TCA405666199RYR1c.6684G>T (p.Met2228Ile)
c.6681G>T (p.Met2227Ile)
c.136G>T
n.6767G>T
19g.38496429_38496434dupCA2584899604RYR1c.6684_6689dup (p.Thr2230_Ser2231insValThr)
c.6681_6686dup (p.Thr2229_Ser2230insValThr)
c.136_141dup
n.6767_6772dup
 gnomAD v4
19g.38496430G>ACA405666202RYR1c.6685G>A (p.Val2229Met)
c.6682G>A (p.Val2228Met)
c.137G>A
n.6768G>A
 gnomAD v4
19g.38496430G>CCA405666203RYR1c.6685G>C (p.Val2229Leu)
c.6682G>C (p.Val2228Leu)
c.137G>C
n.6768G>C
19g.38496430G>TCA405666204RYR1c.6685G>T (p.Val2229Leu)
c.6682G>T (p.Val2228Leu)
c.137G>T
n.6768G>T
19g.38496431T>ACA405666205RYR1c.6686T>A (p.Val2229Glu)
c.6683T>A (p.Val2228Glu)
c.138T>A
n.6769T>A
19g.38496431T>CCA405666206RYR1c.6686T>C (p.Val2229Ala)
c.6683T>C (p.Val2228Ala)
c.138T>C
n.6769T>C
 dbSNP
19g.38496431T>GCA405666207RYR1c.6686T>G (p.Val2229Gly)
c.6683T>G (p.Val2228Gly)
c.138T>G
n.6769T>G
 gnomAD v4
19g.38496432G>ACA507353642RYR1c.6687G>A (p.Val2229=)
c.6684G>A (p.Val2228=)
c.139G>A
n.6770G>A
19g.38496432G>CCA507353641RYR1c.6687G>C (p.Val2229=)
c.6684G>C (p.Val2228=)
c.139G>C
n.6770G>C
 dbSNP
19g.38496432G=CA2335051235RYR1c.6687G= (p.Val2229=)
c.6684G= (p.Val2228=)
c.139G=
n.6770G=
19g.38496432G>TCA507353640RYR1c.6687G>T (p.Val2229=)
c.6684G>T (p.Val2228=)
c.139G>T
n.6770G>T
 gnomAD v4
19g.38496432dupCA082155RYR1c.6687dup (p.Thr2230AspfsTer23)
c.6684dup (p.Thr2229AspfsTer23)
c.139dup
n.6770dup
19g.38496433A=CA2335051236RYR1c.6688A= (p.Thr2230=)
c.6685A= (p.Thr2229=)
c.140A=
n.6771A=
19g.38496433A>CCA405666208RYR1c.6688A>C (p.Thr2230Pro)
c.6685A>C (p.Thr2229Pro)
c.140A>C
n.6771A>C
19g.38496433A>GCA405666209RYR1c.6688A>G (p.Thr2230Ala)
c.6685A>G (p.Thr2229Ala)
c.140A>G
n.6771A>G
19g.38496433A>TCA211969RYR1c.6688A>T (p.Thr2230Ser)
c.6685A>T (p.Thr2229Ser)
c.140A>T
n.6771A>T
 ClinVar dbSNP gnomAD v4
19g.38496434C>ACA405666210RYR1c.6689C>A (p.Thr2230Lys)
c.6686C>A (p.Thr2229Lys)
c.141C>A
n.6772C>A
19g.38496434C=CA2335051237RYR1c.6689C= (p.Thr2230=)
c.6686C= (p.Thr2229=)
c.141C=
n.6772C=
19g.38496434C>GCA405666211RYR1c.6689C>G (p.Thr2230Arg)
c.6686C>G (p.Thr2229Arg)
c.141C>G
n.6772C>G
19g.38496434C>TCA405666212RYR1c.6689C>T (p.Thr2230Ile)
c.6686C>T (p.Thr2229Ile)
c.141C>T
n.6772C>T
 dbSNP
19g.38496435A=CA2335051238RYR1c.6690A= (p.Thr2230=)
c.6687A= (p.Thr2229=)
c.142A=
n.6773A=
19g.38496435A>CCA507353644RYR1c.6690A>C (p.Thr2230=)
c.6687A>C (p.Thr2229=)
c.142A>C
n.6773A>C
 dbSNP
19g.38496435A>GCA507353645RYR1c.6690A>G (p.Thr2230=)
c.6687A>G (p.Thr2229=)
c.142A>G
n.6773A>G
 dbSNP
19g.38496435A>TCA507353646RYR1c.6690A>T (p.Thr2230=)
c.6687A>T (p.Thr2229=)
c.142A>T
n.6773A>T
19g.38496436A>CCA405666215RYR1c.6691A>C (p.Ser2231Arg)
c.6688A>C (p.Ser2230Arg)
c.143A>C
n.6774A>C
19g.38496436A>GCA405666214RYR1c.6691A>G (p.Ser2231Gly)
c.6688A>G (p.Ser2230Gly)
c.143A>G
n.6774A>G
19g.38496436A>TCA405666213RYR1c.6691A>T (p.Ser2231Cys)
c.6688A>T (p.Ser2230Cys)
c.143A>T
n.6774A>T
19g.38496437G>ACA405666216RYR1c.6692G>A (p.Ser2231Asn)
c.6689G>A (p.Ser2230Asn)
c.144G>A
n.6775G>A
 dbSNP gnomAD v4
19g.38496437G>CCA405666218RYR1c.6692G>C (p.Ser2231Thr)
c.6689G>C (p.Ser2230Thr)
c.144G>C
n.6775G>C
19g.38496437G=CA2335051239RYR1c.6692G= (p.Ser2231=)
c.6689G= (p.Ser2230=)
c.144G=
n.6775G=
19g.38496437G>TCA405666217RYR1c.6692G>T (p.Ser2231Ile)
c.6689G>T (p.Ser2230Ile)
c.144G>T
n.6775G>T
19g.38496438C>ACA405666219RYR1c.6693C>A (p.Ser2231Arg)
c.6690C>A (p.Ser2230Arg)
c.145C>A
n.6776C>A
19g.38496438C=CA2335051240RYR1c.6693C= (p.Ser2231=)
c.6690C= (p.Ser2230=)
c.145C=
n.6776C=
19g.38496438C>GCA405666220RYR1c.6693C>G (p.Ser2231Arg)
c.6690C>G (p.Ser2230Arg)
c.145C>G
n.6776C>G
19g.38496438C>TCA507353649RYR1c.6693C>T (p.Ser2231=)
c.6690C>T (p.Ser2230=)
c.145C>T
n.6776C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38496439T>ACA405666221RYR1c.6694T>A (p.Cys2232Ser)
c.6691T>A (p.Cys2231Ser)
c.146T>A
n.6777T>A
19g.38496439T>CCA405666222RYR1c.6694T>C (p.Cys2232Arg)
c.6691T>C (p.Cys2231Arg)
c.146T>C
n.6777T>C
19g.38496439T>GCA405666223RYR1c.6694T>G (p.Cys2232Gly)
c.6691T>G (p.Cys2231Gly)
c.146T>G
n.6777T>G
19g.38496440G>ACA405666224RYR1c.6695G>A (p.Cys2232Tyr)
c.6692G>A (p.Cys2231Tyr)
c.147G>A
n.6778G>A
 ClinVar
19g.38496440G>CCA405666225RYR1c.6695G>C (p.Cys2232Ser)
c.6692G>C (p.Cys2231Ser)
c.147G>C
n.6778G>C
19g.38496440G>TCA405666226RYR1c.6695G>T (p.Cys2232Phe)
c.6692G>T (p.Cys2231Phe)
c.147G>T
n.6778G>T
19g.38496441C>ACA405666227RYR1c.6696C>A (p.Cys2232Ter)
c.6693C>A (p.Cys2231Ter)
c.148C>A
n.6779C>A
19g.38496441C>GCA405666228RYR1c.6696C>G (p.Cys2232Trp)
c.6693C>G (p.Cys2231Trp)
c.148C>G
n.6779C>G
19g.38496441C>TCA507353651RYR1c.6696C>T (p.Cys2232=)
c.6693C>T (p.Cys2231=)
c.148C>T
n.6779C>T
19g.38496443_38496452delCA082159RYR1c.6698_6707del (p.Cys2233SerfsTer19)
c.6695_6704del (p.Cys2232SerfsTer19)
c.150_159del
n.6781_6790del
19g.38496442T>ACA405666229RYR1c.6697T>A (p.Cys2233Ser)
c.6694T>A (p.Cys2232Ser)
c.149T>A
n.6780T>A
19g.38496442T>CCA405666230RYR1c.6697T>C (p.Cys2233Arg)
c.6694T>C (p.Cys2232Arg)
c.149T>C
n.6780T>C
19g.38496442T>GCA405666231RYR1c.6697T>G (p.Cys2233Gly)
c.6694T>G (p.Cys2232Gly)
c.149T>G
n.6780T>G
19g.38496443G>ACA405666234RYR1c.6698G>A (p.Cys2233Tyr)
c.6695G>A (p.Cys2232Tyr)
c.150G>A
n.6781G>A
 gnomAD v4
19g.38496443G>CCA405666233RYR1c.6698G>C (p.Cys2233Ser)
c.6695G>C (p.Cys2232Ser)
c.150G>C
n.6781G>C
19g.38496443G>TCA405666232RYR1c.6698G>T (p.Cys2233Phe)
c.6695G>T (p.Cys2232Phe)
c.150G>T
n.6781G>T
19g.38496444C>ACA405666235RYR1c.6699C>A (p.Cys2233Ter)
c.6696C>A (p.Cys2232Ter)
c.151C>A
n.6782C>A
19g.38496444C=CA2335051241RYR1c.6699C= (p.Cys2233=)
c.6696C= (p.Cys2232=)
c.151C=
n.6782C=
19g.38496444C>GCA405666236RYR1c.6699C>G (p.Cys2233Trp)
c.6696C>G (p.Cys2232Trp)
c.151C>G
n.6782C>G
19g.38496444C>TCA308104330RYR1c.6699C>T (p.Cys2233=)
c.6696C>T (p.Cys2232=)
c.151C>T
n.6782C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38496445C>ACA405666237RYR1c.6700C>A (p.Arg2234Ser)
c.6697C>A (p.Arg2233Ser)
c.152C>A
n.6783C>A
 dbSNP
19g.38496445C=CA2335051242RYR1c.6700C= (p.Arg2234=)
c.6697C= (p.Arg2233=)
c.152C=
n.6783C=
19g.38496445C>GCA405666238RYR1c.6700C>G (p.Arg2234Gly)
c.6697C>G (p.Arg2233Gly)
c.152C>G
n.6783C>G
19g.38496445C>TCA068577RYR1c.6700C>T (p.Arg2234Cys)
c.6697C>T (p.Arg2233Cys)
c.152C>T
n.6783C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38496446G>ACA405666239RYR1c.6701G>A (p.Arg2234His)
c.6698G>A (p.Arg2233His)
c.153G>A
n.6784G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.38496446G>CCA405666240RYR1c.6701G>C (p.Arg2234Pro)
c.6698G>C (p.Arg2233Pro)
c.153G>C
n.6784G>C
19g.38496446G=CA2335051243RYR1c.6701G= (p.Arg2234=)
c.6698G= (p.Arg2233=)
c.153G=
n.6784G=
19g.38496446G>TCA405666241RYR1c.6701G>T (p.Arg2234Leu)
c.6698G>T (p.Arg2233Leu)
c.153G>T
n.6784G>T
19g.38496447C>ACA507353652RYR1c.6702C>A (p.Arg2234=)
c.6699C>A (p.Arg2233=)
c.154C>A
n.6785C>A
19g.38496447C>GCA507353653RYR1c.6702C>G (p.Arg2234=)
c.6699C>G (p.Arg2233=)
c.154C>G
n.6785C>G
19g.38496447C>TCA507353654RYR1c.6702C>T (p.Arg2234=)
c.6699C>T (p.Arg2233=)
c.154C>T
n.6785C>T
19g.38496448T>ACA405666242RYR1c.6703T>A (p.Phe2235Ile)
c.6700T>A (p.Phe2234Ile)
c.155T>A
n.6786T>A
19g.38496448T>CCA405666243RYR1c.6703T>C (p.Phe2235Leu)
c.6700T>C (p.Phe2234Leu)
c.155T>C
n.6786T>C
 gnomAD v4
19g.38496448T>GCA405666244RYR1c.6703T>G (p.Phe2235Val)
c.6700T>G (p.Phe2234Val)
c.155T>G
n.6786T>G
19g.38496449T>ACA405666247RYR1c.6704T>A (p.Phe2235Tyr)
c.6701T>A (p.Phe2234Tyr)
c.156T>A
n.6787T>A
19g.38496449T>CCA405666246RYR1c.6704T>C (p.Phe2235Ser)
c.6701T>C (p.Phe2234Ser)
c.156T>C
n.6787T>C
19g.38496449T>GCA405666245RYR1c.6704T>G (p.Phe2235Cys)
c.6701T>G (p.Phe2234Cys)
c.156T>G
n.6787T>G
19g.38496450C>ACA405666248RYR1c.6705C>A (p.Phe2235Leu)
c.6702C>A (p.Phe2234Leu)
c.157C>A
n.6788C>A
19g.38496450C=CA2335051244RYR1c.6705C= (p.Phe2235=)
c.6702C= (p.Phe2234=)
c.157C=
n.6788C=
19g.38496450C>GCA405666249RYR1c.6705C>G (p.Phe2235Leu)
c.6702C>G (p.Phe2234Leu)
c.157C>G
n.6788C>G
19g.38496450C>TCA507353655RYR1c.6705C>T (p.Phe2235=)
c.6702C>T (p.Phe2234=)
c.157C>T
n.6788C>T
 dbSNP gnomAD v2 gnomAD v4
19g.38496451C>ACA405666250RYR1c.6706C>A (p.Leu2236Ile)
c.6703C>A (p.Leu2235Ile)
c.158C>A
n.6789C>A
19g.38496451C>GCA405666251RYR1c.6706C>G (p.Leu2236Val)
c.6703C>G (p.Leu2235Val)
c.158C>G
n.6789C>G
19g.38496451C>TCA405666252RYR1c.6706C>T (p.Leu2236Phe)
c.6703C>T (p.Leu2235Phe)
c.158C>T
n.6789C>T
19g.38496452T>ACA405666253RYR1c.6707T>A (p.Leu2236His)
c.6704T>A (p.Leu2235His)
c.159T>A
n.6790T>A
19g.38496452T>CCA405666254RYR1c.6707T>C (p.Leu2236Pro)
c.6704T>C (p.Leu2235Pro)
c.159T>C
n.6790T>C
19g.38496452T>GCA405666255RYR1c.6707T>G (p.Leu2236Arg)
c.6704T>G (p.Leu2235Arg)
c.159T>G
n.6790T>G
 ClinVar dbSNP
19g.38496452T=CA2335051246RYR1c.6707T= (p.Leu2236=)
c.6704T= (p.Leu2235=)
c.159T=
n.6790T=
19g.38496452_38496455delinsTCTGCA2335051245RYR1c.6707_6710delinsTCTG (p.Leu2236=)
c.6704_6707delinsTCTG (p.Leu2235=)
c.159_162delinsTCTG
n.6790_6793delinsTCTG
19g.38496453C>ACA507353658RYR1c.6708C>A (p.Leu2236=)
c.6705C>A (p.Leu2235=)
c.160C>A
n.6791C>A
19g.38496453C=CA2335051247RYR1c.6708C= (p.Leu2236=)
c.6705C= (p.Leu2235=)
c.160C=
n.6791C=
19g.38496453C>GCA507353656RYR1c.6708C>G (p.Leu2236=)
c.6705C>G (p.Leu2235=)
c.160C>G
n.6791C>G
 ClinVar dbSNP
19g.38496453C>TCA507353657RYR1c.6708C>T (p.Leu2236=)
c.6705C>T (p.Leu2235=)
c.160C>T
n.6791C>T
19g.38496455_38496457delCA882059106RYR1c.6710_6712del (p.Cys2237del)
c.6707_6709del (p.Cys2236del)
c.162_164del
n.6793_6795del
 dbSNP
19g.38496454T>ACA405666256RYR1c.6709T>A (p.Cys2237Ser)
c.6706T>A (p.Cys2236Ser)
c.161T>A
n.6792T>A
19g.38496454T>CCA405666257RYR1c.6709T>C (p.Cys2237Arg)
c.6706T>C (p.Cys2236Arg)
c.161T>C
n.6792T>C
19g.38496454T>GCA405666258RYR1c.6709T>G (p.Cys2237Gly)
c.6706T>G (p.Cys2236Gly)
c.161T>G
n.6792T>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38496454T=CA2335051248RYR1c.6709T= (p.Cys2237=)
c.6706T= (p.Cys2236=)
c.161T=
n.6792T=
19g.38496455G>ACA405666261RYR1c.6710G>A (p.Cys2237Tyr)
c.6707G>A (p.Cys2236Tyr)
c.162G>A
n.6793G>A
 ClinVar dbSNP
19g.38496455G>CCA405666260RYR1c.6710G>C (p.Cys2237Ser)
c.6707G>C (p.Cys2236Ser)
c.162G>C
n.6793G>C
19g.38496455G>TCA405666259RYR1c.6710G>T (p.Cys2237Phe)
c.6707G>T (p.Cys2236Phe)
c.162G>T
n.6793G>T
19g.38496456C>ACA405666262RYR1c.6711C>A (p.Cys2237Ter)
c.6708C>A (p.Cys2236Ter)
c.163C>A
n.6794C>A
19g.38496456C=CA2335051249RYR1c.6711C= (p.Cys2237=)
c.6708C= (p.Cys2236=)
c.163C=
n.6794C=
19g.38496456C>GCA405666263RYR1c.6711C>G (p.Cys2237Trp)
c.6708C>G (p.Cys2236Trp)
c.163C>G
n.6794C>G
 dbSNP gnomAD v2
19g.38496456C>TCA507353659RYR1c.6711C>T (p.Cys2237=)
c.6708C>T (p.Cys2236=)
c.163C>T
n.6794C>T
19g.38496457T>ACA405666264RYR1c.6712T>A (p.Tyr2238Asn)
c.6709T>A (p.Tyr2237Asn)
c.164T>A
n.6795T>A
19g.38496457T>CCA405666265RYR1c.6712T>C (p.Tyr2238His)
c.6709T>C (p.Tyr2237His)
c.164T>C
n.6795T>C
19g.38496457T>GCA405666266RYR1c.6712T>G (p.Tyr2238Asp)
c.6709T>G (p.Tyr2237Asp)
c.164T>G
n.6795T>G
19g.38496458A=CA2335051250RYR1c.6713A= (p.Tyr2238=)
c.6710A= (p.Tyr2237=)
c.165A=
n.6796A=
19g.38496458A>CCA405666267RYR1c.6713A>C (p.Tyr2238Ser)
c.6710A>C (p.Tyr2237Ser)
c.165A>C
n.6796A>C
19g.38496458A>GCA068581RYR1c.6713A>G (p.Tyr2238Cys)
c.6710A>G (p.Tyr2237Cys)
c.165A>G
n.6796A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38496458A>TCA405666268RYR1c.6713A>T (p.Tyr2238Phe)
c.6710A>T (p.Tyr2237Phe)
c.165A>T
n.6796A>T
19g.38496459T>ACA405666269RYR1c.6714T>A (p.Tyr2238Ter)
c.6711T>A (p.Tyr2237Ter)
c.166T>A
n.6797T>A
19g.38496459T>CCA507353660RYR1c.6714T>C (p.Tyr2238=)
c.6711T>C (p.Tyr2237=)
c.166T>C
n.6797T>C
19g.38496459T>GCA405666270RYR1c.6714T>G (p.Tyr2238Ter)
c.6711T>G (p.Tyr2237Ter)
c.166T>G
n.6797T>G
19g.38496460T>ACA405666271RYR1c.6715T>A (p.Phe2239Ile)
c.6712T>A (p.Phe2238Ile)
c.167T>A
n.6798T>A
19g.38496460T>CCA405666272RYR1c.6715T>C (p.Phe2239Leu)
c.6712T>C (p.Phe2238Leu)
c.167T>C
n.6798T>C
 ClinVar gnomAD v4
19g.38496460T>GCA405666273RYR1c.6715T>G (p.Phe2239Val)
c.6712T>G (p.Phe2238Val)
c.167T>G
n.6798T>G
19g.38496461T>ACA405666275RYR1c.6716T>A (p.Phe2239Tyr)
c.6713T>A (p.Phe2238Tyr)
c.168T>A
n.6799T>A
19g.38496461T>CCA405666276RYR1c.6716T>C (p.Phe2239Ser)
c.6713T>C (p.Phe2238Ser)
c.168T>C
n.6799T>C
19g.38496461T>GCA405666274RYR1c.6716T>G (p.Phe2239Cys)
c.6713T>G (p.Phe2238Cys)
c.168T>G
n.6799T>G
 ClinVar gnomAD v4
19g.38496462C>ACA405666277RYR1c.6717C>A (p.Phe2239Leu)
c.6714C>A (p.Phe2238Leu)
c.169C>A
n.6800C>A
19g.38496462C=CA2335051251RYR1c.6717C= (p.Phe2239=)
c.6714C= (p.Phe2238=)
c.169C=
n.6800C=
19g.38496462C>GCA068582RYR1c.6717C>G (p.Phe2239Leu)
c.6714C>G (p.Phe2238Leu)
c.169C>G
n.6800C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38496462C>TCA308104342RYR1c.6717C>T (p.Phe2239=)
c.6714C>T (p.Phe2238=)
c.169C>T
n.6800C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38496463T>ACA405666278RYR1c.6718T>A (p.Cys2240Ser)
c.6715T>A (p.Cys2239Ser)
c.170T>A
n.6801T>A
19g.38496463T>CCA405666279RYR1c.6718T>C (p.Cys2240Arg)
c.6715T>C (p.Cys2239Arg)
c.170T>C
n.6801T>C
19g.38496463T>GCA405666280RYR1c.6718T>G (p.Cys2240Gly)
c.6715T>G (p.Cys2239Gly)
c.170T>G
n.6801T>G
19g.38496464G>ACA405666281RYR1c.6719G>A (p.Cys2240Tyr)
c.6716G>A (p.Cys2239Tyr)
c.171G>A
n.6802G>A
19g.38496464G>CCA405666282RYR1c.6719G>C (p.Cys2240Ser)
c.6716G>C (p.Cys2239Ser)
c.171G>C
n.6802G>C
19g.38496464G>TCA405666283RYR1c.6719G>T (p.Cys2240Phe)
c.6716G>T (p.Cys2239Phe)
c.171G>T
n.6802G>T
 ClinVar dbSNP
19g.38496465C>ACA405666284RYR1c.6720C>A (p.Cys2240Ter)
c.6717C>A (p.Cys2239Ter)
c.172C>A
n.6803C>A
19g.38496465C>GCA082172RYR1c.6720C>G (p.Cys2240Trp)
c.6717C>G (p.Cys2239Trp)
c.172C>G
n.6803C>G
19g.38496465C>TCA507353662RYR1c.6720C>T (p.Cys2240=)
c.6717C>T (p.Cys2239=)
c.172C>T
n.6803C>T
19g.38496466C>ACA507353663RYR1c.6721C>A (p.Arg2241=)
c.6718C>A (p.Arg2240=)
c.173C>A
n.6804C>A
19g.38496466C=CA2335051252RYR1c.6721C= (p.Arg2241=)
c.6718C= (p.Arg2240=)
c.173C=
n.6804C=
19g.38496466C>GCA068590RYR1c.6721C>G (p.Arg2241Gly)
c.6718C>G (p.Arg2240Gly)
c.173C>G
n.6804C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38496466C>TCA024643RYR1c.6721C>T (p.Arg2241Ter)
c.6718C>T (p.Arg2240Ter)
c.173C>T
n.6804C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38496467G>ACA068594RYR1c.6722G>A (p.Arg2241Gln)
c.6719G>A (p.Arg2240Gln)
c.174G>A
n.6805G>A
 ClinVar dbSNP ExAC gnomAD v4
19g.38496467G>CCA405666285RYR1c.6722G>C (p.Arg2241Pro)
c.6719G>C (p.Arg2240Pro)
c.174G>C
n.6805G>C
19g.38496467G=CA2335051253RYR1c.6722G= (p.Arg2241=)
c.6719G= (p.Arg2240=)
c.174G=
n.6805G=
19g.38496467G>TCA068600RYR1c.6722G>T (p.Arg2241Leu)
c.6719G>T (p.Arg2240Leu)
c.174G>T
n.6805G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.38496468A>CCA507353664RYR1c.6723A>C (p.Arg2241=)
c.6720A>C (p.Arg2240=)
c.175A>C
n.6806A>C
19g.38496468A>GCA507353665RYR1c.6723A>G (p.Arg2241=)
c.6720A>G (p.Arg2240=)
c.175A>G
n.6806A>G
 ClinVar
19g.38496468A>TCA507353666RYR1c.6723A>T (p.Arg2241=)
c.6720A>T (p.Arg2240=)
c.175A>T
n.6806A>T
19g.38496469dupCA920105658RYR1c.6724dup (p.Ile2242AsnfsTer11)
c.6721dup (p.Ile2241AsnfsTer11)
c.176dup
n.6807dup
 dbSNP
19g.38496469A>CCA405666286RYR1c.6724A>C (p.Ile2242Leu)
c.6721A>C (p.Ile2241Leu)
c.176A>C
n.6807A>C
19g.38496469A>GCA405666287RYR1c.6724A>G (p.Ile2242Val)
c.6721A>G (p.Ile2241Val)
c.176A>G
n.6807A>G
 gnomAD v4
19g.38496469A>TCA405666288RYR1c.6724A>T (p.Ile2242Phe)
c.6721A>T (p.Ile2241Phe)
c.176A>T
n.6807A>T
19g.38496470T>ACA405666289RYR1c.6725T>A (p.Ile2242Asn)
c.6722T>A (p.Ile2241Asn)
c.177T>A
n.6808T>A
19g.38496470T>CCA405666290RYR1c.6725T>C (p.Ile2242Thr)
c.6722T>C (p.Ile2241Thr)
c.177T>C
n.6808T>C
19g.38496470T>GCA405666291RYR1c.6725T>G (p.Ile2242Ser)
c.6722T>G (p.Ile2241Ser)
c.177T>G
n.6808T>G
19g.38496471C>ACA507353668RYR1c.6726C>A (p.Ile2242=)
c.6723C>A (p.Ile2241=)
c.178C>A
n.6809C>A
19g.38496471C=CA2335051254RYR1c.6726C= (p.Ile2242=)
c.6723C= (p.Ile2241=)
c.178C=
n.6809C=
19g.38496471C>GCA068603RYR1c.6726C>G (p.Ile2242Met)
c.6723C>G (p.Ile2241Met)
c.178C>G
n.6809C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38496471C>TCA507353669RYR1c.6726C>T (p.Ile2242=)
c.6723C>T (p.Ile2241=)
c.178C>T
n.6809C>T
19g.38496472A=CA2335051255RYR1c.6727A= (p.Ser2243=)
c.6724A= (p.Ser2242=)
c.179A=
n.6810A=
19g.38496472A>CCA405666292RYR1c.6727A>C (p.Ser2243Arg)
c.6724A>C (p.Ser2242Arg)
c.179A>C
n.6810A>C
 dbSNP gnomAD v2 gnomAD v4
19g.38496472A>GCA405666293RYR1c.6727A>G (p.Ser2243Gly)
c.6724A>G (p.Ser2242Gly)
c.179A>G
n.6810A>G
19g.38496472A>TCA405666294RYR1c.6727A>T (p.Ser2243Cys)
c.6724A>T (p.Ser2242Cys)
c.179A>T
n.6810A>T
19g.38496473G>ACA405666295RYR1c.6728G>A (p.Ser2243Asn)
c.6725G>A (p.Ser2242Asn)
c.180G>A
n.6811G>A
19g.38496473G>CCA405666296RYR1c.6728G>C (p.Ser2243Thr)
c.6725G>C (p.Ser2242Thr)
c.180G>C
n.6811G>C
19g.38496473G>TCA405666297RYR1c.6728G>T (p.Ser2243Ile)
c.6725G>T (p.Ser2242Ile)
c.180G>T
n.6811G>T
19g.38496474C>ACA405666298RYR1c.6729C>A (p.Ser2243Arg)
c.6726C>A (p.Ser2242Arg)
c.181C>A
n.6812C>A
19g.38496474C>GCA082177RYR1c.6729C>G (p.Ser2243Arg)
c.6726C>G (p.Ser2242Arg)
c.181C>G
n.6812C>G
19g.38496474C>TCA507353670RYR1c.6729C>T (p.Ser2243=)
c.6726C>T (p.Ser2242=)
c.181C>T
n.6812C>T
 gnomAD v4
19g.38496475C>ACA507353671RYR1c.6730C>A (p.Arg2244=)
c.6727C>A (p.Arg2243=)
c.182C>A
n.6813C>A
 ClinVar
19g.38496475C=CA2335051256RYR1c.6730C= (p.Arg2244=)
c.6727C= (p.Arg2243=)
c.182C=
n.6813C=
19g.38496475C>GCA405666299RYR1c.6730C>G (p.Arg2244Gly)
c.6727C>G (p.Arg2243Gly)
c.182C>G
n.6813C>G
19g.38496475C>TCA068607RYR1c.6730C>T (p.Arg2244Trp)
c.6727C>T (p.Arg2243Trp)
c.182C>T
n.6813C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38496476G>ACA068612RYR1c.6731G>A (p.Arg2244Gln)
c.6728G>A (p.Arg2243Gln)
c.183G>A
n.6814G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38496476G>CCA308104382RYR1c.6731G>C (p.Arg2244Pro)
c.6728G>C (p.Arg2243Pro)
c.183G>C
n.6814G>C
 dbSNP gnomAD v4
19g.38496476G=CA2335051257RYR1c.6731G= (p.Arg2244=)
c.6728G= (p.Arg2243=)
c.183G=
n.6814G=
19g.38496476G>TCA405666300RYR1c.6731G>T (p.Arg2244Leu)
c.6728G>T (p.Arg2243Leu)
c.183G>T
n.6814G>T
 COSMIC
19g.38496477G>ACA068616RYR1c.6732G>A (p.Arg2244=)
c.6729G>A (p.Arg2243=)
c.184G>A
n.6815G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38496477G>CCA507353672RYR1c.6732G>C (p.Arg2244=)
c.6729G>C (p.Arg2243=)
c.184G>C
n.6815G>C
19g.38496477G=CA2335051258RYR1c.6732G= (p.Arg2244=)
c.6729G= (p.Arg2243=)
c.184G=
n.6815G=
19g.38496477G>TCA507353673RYR1c.6732G>T (p.Arg2244=)
c.6729G>T (p.Arg2243=)
c.184G>T
n.6815G>T
19g.38496478C>ACA405666301RYR1c.6733C>A (p.Gln2245Lys)
c.6730C>A (p.Gln2244Lys)
c.185C>A
n.6816C>A
19g.38496478C=CA2335051259RYR1c.6733C= (p.Gln2245=)
c.6730C= (p.Gln2244=)
c.185C=
n.6816C=
19g.38496478C>GCA405666302RYR1c.6733C>G (p.Gln2245Glu)
c.6730C>G (p.Gln2244Glu)
c.185C>G
n.6816C>G
19g.38496478C>TCA082178RYR1c.6733C>T (p.Gln2245Ter)
c.6730C>T (p.Gln2244Ter)
c.185C>T
n.6816C>T
 dbSNP gnomAD v2 gnomAD v4
19g.38496479A>CCA405666303RYR1c.6734A>C (p.Gln2245Pro)
c.6731A>C (p.Gln2244Pro)
c.186A>C
n.6817A>C
19g.38496479A>GCA405666304RYR1c.6734A>G (p.Gln2245Arg)
c.6731A>G (p.Gln2244Arg)
c.186A>G
n.6817A>G
 gnomAD v4
19g.38496479A>TCA405666305RYR1c.6734A>T (p.Gln2245Leu)
c.6731A>T (p.Gln2244Leu)
c.186A>T
n.6817A>T
19g.38496480G>ACA082180RYR1c.6735G>A (p.Gln2245=)
c.6732G>A (p.Gln2244=)
c.187G>A
n.6818G>A
19g.38496480G>CCA405666306RYR1c.6735G>C (p.Gln2245His)
c.6732G>C (p.Gln2244His)
c.187G>C
n.6818G>C
19g.38496480G>TCA405666307RYR1c.6735G>T (p.Gln2245His)
c.6732G>T (p.Gln2244His)
c.187G>T
n.6818G>T
19g.38496481A>CCA405666310RYR1c.6736A>C (p.Asn2246His)
c.6733A>C (p.Asn2245His)
c.188A>C
n.6819A>C
19g.38496481A>GCA405666309RYR1c.6736A>G (p.Asn2246Asp)
c.6733A>G (p.Asn2245Asp)
c.188A>G
n.6819A>G
19g.38496481A>TCA405666308RYR1c.6736A>T (p.Asn2246Tyr)
c.6733A>T (p.Asn2245Tyr)
c.188A>T
n.6819A>T
19g.38496482A>CCA405666311RYR1c.6737A>C (p.Asn2246Thr)
c.6734A>C (p.Asn2245Thr)
c.189A>C
n.6820A>C
19g.38496482A>GCA405666312RYR1c.6737A>G (p.Asn2246Ser)
c.6734A>G (p.Asn2245Ser)
c.189A>G
n.6820A>G
19g.38496482A>TCA405666313RYR1c.6737A>T (p.Asn2246Ile)
c.6734A>T (p.Asn2245Ile)
c.189A>T
n.6820A>T
19g.38496483C>ACA405666314RYR1c.6738C>A (p.Asn2246Lys)
c.6735C>A (p.Asn2245Lys)
c.190C>A
n.6821C>A
19g.38496483C=CA2335051260RYR1c.6738C= (p.Asn2246=)
c.6735C= (p.Asn2245=)
c.190C=
n.6821C=
19g.38496483C>GCA405666315RYR1c.6738C>G (p.Asn2246Lys)
c.6735C>G (p.Asn2245Lys)
c.190C>G
n.6821C>G
19g.38496483C>TCA507353675RYR1c.6738C>T (p.Asn2246=)
c.6735C>T (p.Asn2245=)
c.190C>T
n.6821C>T
 ClinVar dbSNP gnomAD v4
19g.38496484C>ACA405666316RYR1c.6739C>A (p.Gln2247Lys)
c.6736C>A (p.Gln2246Lys)
c.191C>A
n.6822C>A
 gnomAD v4
19g.38496484C>GCA405666317RYR1c.6739C>G (p.Gln2247Glu)
c.6736C>G (p.Gln2246Glu)
c.191C>G
n.6822C>G
19g.38496484C>TCA405666318RYR1c.6739C>T (p.Gln2247Ter)
c.6736C>T (p.Gln2246Ter)
c.191C>T
n.6822C>T
 gnomAD v4
19g.38496485A=CA2335051261RYR1c.6740A= (p.Gln2247=)
c.6737A= (p.Gln2246=)
c.192A=
n.6823A=
19g.38496485A>CCA405666319RYR1c.6740A>C (p.Gln2247Pro)
c.6737A>C (p.Gln2246Pro)
c.192A>C
n.6823A>C
19g.38496485A>GCA068620RYR1c.6740A>G (p.Gln2247Arg)
c.6737A>G (p.Gln2246Arg)
c.192A>G
n.6823A>G
 dbSNP ExAC gnomAD v2
19g.38496485A>TCA405666320RYR1c.6740A>T (p.Gln2247Leu)
c.6737A>T (p.Gln2246Leu)
c.192A>T
n.6823A>T
19g.38496486G>ACA507353677RYR1c.6741G>A (p.Gln2247=)
c.6738G>A (p.Gln2246=)
c.193G>A
n.6824G>A
19g.38496486G>CCA405666321RYR1c.6741G>C (p.Gln2247His)
c.6738G>C (p.Gln2246His)
c.193G>C
n.6824G>C
19g.38496486G>TCA405666322RYR1c.6741G>T (p.Gln2247His)
c.6738G>T (p.Gln2246His)
c.193G>T
n.6824G>T
19g.38496487C>ACA405666323RYR1c.6742C>A (p.Arg2248Ser)
c.6739C>A (p.Arg2247Ser)
c.194C>A
n.6825C>A
19g.38496487C=CA2335051262RYR1c.6742C= (p.Arg2248=)
c.6739C= (p.Arg2247=)
c.194C=
n.6825C=
19g.38496487C>GCA405666324RYR1c.6742C>G (p.Arg2248Gly)
c.6739C>G (p.Arg2247Gly)
c.194C>G
n.6825C>G
19g.38496487C>TCA068623RYR1c.6742C>T (p.Arg2248Cys)
c.6739C>T (p.Arg2247Cys)
c.194C>T
n.6825C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38496488G>ACA068627RYR1c.6743G>A (p.Arg2248His)
c.6740G>A (p.Arg2247His)
c.195G>A
n.6826G>A
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
19g.38496488G>CCA405666325RYR1c.6743G>C (p.Arg2248Pro)
c.6740G>C (p.Arg2247Pro)
c.195G>C
n.6826G>C
19g.38496488G=CA2335051263RYR1c.6743G= (p.Arg2248=)
c.6740G= (p.Arg2247=)
c.195G=
n.6826G=
19g.38496488G>TCA405666326RYR1c.6743G>T (p.Arg2248Leu)
c.6740G>T (p.Arg2247Leu)
c.195G>T
n.6826G>T
19g.38496489C>ACA507353682RYR1c.6744C>A (p.Arg2248=)
c.6741C>A (p.Arg2247=)
c.196C>A
n.6827C>A
19g.38496489C=CA2335051264RYR1c.6744C= (p.Arg2248=)
c.6741C= (p.Arg2247=)
c.196C=
n.6827C=
19g.38496489C>GCA507353683RYR1c.6744C>G (p.Arg2248=)
c.6741C>G (p.Arg2247=)
c.196C>G
n.6827C>G
19g.38496489C>TCA068631RYR1c.6744C>T (p.Arg2248=)
c.6741C>T (p.Arg2247=)
c.196C>T
n.6827C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38496490T>ACA405666327RYR1c.6745T>A (p.Ser2249Thr)
c.6742T>A (p.Ser2248Thr)
c.197T>A
n.6828T>A
19g.38496490T>CCA405666328RYR1c.6745T>C (p.Ser2249Pro)
c.6742T>C (p.Ser2248Pro)
c.197T>C
n.6828T>C
19g.38496490T>GCA405666329RYR1c.6745T>G (p.Ser2249Ala)
c.6742T>G (p.Ser2248Ala)
c.197T>G
n.6828T>G
19g.38496491C>ACA405666330RYR1c.6746C>A (p.Ser2249Tyr)
c.6743C>A (p.Ser2248Tyr)
c.198C>A
n.6829C>A
19g.38496491C>GCA405666331RYR1c.6746C>G (p.Ser2249Cys)
c.6743C>G (p.Ser2248Cys)
c.198C>G
n.6829C>G
19g.38496491C>TCA405666332RYR1c.6746C>T (p.Ser2249Phe)
c.6743C>T (p.Ser2248Phe)
c.198C>T
n.6829C>T
19g.38496492C>ACA507353685RYR1c.6747C>A (p.Ser2249=)
c.6744C>A (p.Ser2248=)
c.199C>A
n.6830C>A
19g.38496492C=CA2335051265RYR1c.6747C= (p.Ser2249=)
c.6744C= (p.Ser2248=)
c.199C=
n.6830C=
19g.38496492C>GCA507353686RYR1c.6747C>G (p.Ser2249=)
c.6744C>G (p.Ser2248=)
c.199C>G
n.6830C>G
19g.38496492C>TCA068636RYR1c.6747C>T (p.Ser2249=)
c.6744C>T (p.Ser2248=)
c.199C>T
n.6830C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38496493A=CA2335051266RYR1c.6748A= (p.Met2250=)
c.6745A= (p.Met2249=)
c.200A=
n.6831A=
19g.38496493A>CCA405666333RYR1c.6748A>C (p.Met2250Leu)
c.6745A>C (p.Met2249Leu)
c.200A>C
n.6831A>C
19g.38496493A>GCA405666334RYR1c.6748A>G (p.Met2250Val)
c.6745A>G (p.Met2249Val)
c.200A>G
n.6831A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38496493A>TCA405666335RYR1c.6748A>T (p.Met2250Leu)
c.6745A>T (p.Met2249Leu)
c.200A>T
n.6831A>T
 dbSNP gnomAD v2 gnomAD v4
19g.38496494T>ACA405666338RYR1c.6749T>A (p.Met2250Lys)
c.6746T>A (p.Met2249Lys)
c.201T>A
n.6832T>A
19g.38496494T>CCA405666336RYR1c.6749T>C (p.Met2250Thr)
c.6746T>C (p.Met2249Thr)
c.201T>C
n.6832T>C
 dbSNP gnomAD v2 gnomAD v4
19g.38496494T>GCA405666337RYR1c.6749T>G (p.Met2250Arg)
c.6746T>G (p.Met2249Arg)
c.201T>G
n.6832T>G
19g.38496494T=CA2335051267RYR1c.6749T= (p.Met2250=)
c.6746T= (p.Met2249=)
c.201T=
n.6832T=
19g.38496495G>ACA405666339RYR1c.6750G>A (p.Met2250Ile)
c.6747G>A (p.Met2249Ile)
c.202G>A
n.6833G>A
 dbSNP gnomAD v3 gnomAD v4
19g.38496495G>CCA405666340RYR1c.6750G>C (p.Met2250Ile)
c.6747G>C (p.Met2249Ile)
c.202G>C
n.6833G>C
19g.38496495G=CA2335051268RYR1c.6750G= (p.Met2250=)
c.6747G= (p.Met2249=)
c.202G=
n.6833G=
19g.38496495G>TCA405666341RYR1c.6750G>T (p.Met2250Ile)
c.6747G>T (p.Met2249Ile)
c.202G>T
n.6833G>T
19g.38496496T>ACA405666342RYR1c.6751T>A (p.Phe2251Ile)
c.6748T>A (p.Phe2250Ile)
c.203T>A
n.6834T>A
19g.38496496T>CCA405666343RYR1c.6751T>C (p.Phe2251Leu)
c.6748T>C (p.Phe2250Leu)
c.203T>C
n.6834T>C
19g.38496496T>GCA405666344RYR1c.6751T>G (p.Phe2251Val)
c.6748T>G (p.Phe2250Val)
c.203T>G
n.6834T>G
19g.38496497T>ACA405666345RYR1c.6752T>A (p.Phe2251Tyr)
c.6749T>A (p.Phe2250Tyr)
c.204T>A
n.6835T>A
19g.38496497T>CCA405666346RYR1c.6752T>C (p.Phe2251Ser)
c.6749T>C (p.Phe2250Ser)
c.204T>C
n.6835T>C
 ClinVar dbSNP
19g.38496497T>GCA405666347RYR1c.6752T>G (p.Phe2251Cys)
c.6749T>G (p.Phe2250Cys)
c.204T>G
n.6835T>G
19g.38496497T=CA2335051269RYR1c.6752T= (p.Phe2251=)
c.6749T= (p.Phe2250=)
c.204T=
n.6835T=
19g.38496498T>ACA405666348RYR1c.6753T>A (p.Phe2251Leu)
c.6750T>A (p.Phe2250Leu)
c.205T>A
n.6836T>A
19g.38496498T>CCA068640RYR1c.6753T>C (p.Phe2251=)
c.6750T>C (p.Phe2250=)
c.205T>C
n.6836T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38496498T>GCA405666349RYR1c.6753T>G (p.Phe2251Leu)
c.6750T>G (p.Phe2250Leu)
c.205T>G
n.6836T>G
19g.38496498T=CA2335051270RYR1c.6753T= (p.Phe2251=)
c.6750T= (p.Phe2250=)
c.205T=
n.6836T=
19g.38496499G>ACA405666352RYR1c.6754G>A (p.Asp2252Asn)
c.6751G>A (p.Asp2251Asn)
c.206G>A
n.6837G>A
19g.38496499G>CCA405666351RYR1c.6754G>C (p.Asp2252His)
c.6751G>C (p.Asp2251His)
c.206G>C
n.6837G>C
19g.38496499G>TCA405666350RYR1c.6754G>T (p.Asp2252Tyr)
c.6751G>T (p.Asp2251Tyr)
c.206G>T
n.6837G>T
 gnomAD v4
19g.38496500A>CCA405666355RYR1c.6755A>C (p.Asp2252Ala)
c.6752A>C (p.Asp2251Ala)
c.207A>C
n.6838A>C
19g.38496500A>GCA405666353RYR1c.6755A>G (p.Asp2252Gly)
c.6752A>G (p.Asp2251Gly)
c.207A>G
n.6838A>G
19g.38496500A>TCA405666354RYR1c.6755A>T (p.Asp2252Val)
c.6752A>T (p.Asp2251Val)
c.207A>T
n.6838A>T
19g.38496501C>ACA068644RYR1c.6756C>A (p.Asp2252Glu)
c.6753C>A (p.Asp2251Glu)
c.208C>A
n.6839C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38496501C=CA2335051271RYR1c.6756C= (p.Asp2252=)
c.6753C= (p.Asp2251=)
c.208C=
n.6839C=
19g.38496501C>GCA405666356RYR1c.6756C>G (p.Asp2252Glu)
c.6753C>G (p.Asp2251Glu)
c.208C>G
n.6839C>G
19g.38496501C>TCA507353691RYR1c.6756C>T (p.Asp2252=)
c.6753C>T (p.Asp2251=)
c.208C>T
n.6839C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38496502C>ACA405666357RYR1c.6757C>A (p.His2253Asn)
c.6754C>A (p.His2252Asn)
c.209C>A
n.6840C>A
19g.38496502C=CA2335051272RYR1c.6757C= (p.His2253=)
c.6754C= (p.His2252=)
c.209C=
n.6840C=
19g.38496502C>GCA405666358RYR1c.6757C>G (p.His2253Asp)
c.6754C>G (p.His2252Asp)
c.209C>G
n.6840C>G
19g.38496502C>TCA308104435RYR1c.6757C>T (p.His2253Tyr)
c.6754C>T (p.His2252Tyr)
c.209C>T
n.6840C>T
 ClinVar dbSNP
19g.38496503A>CCA405666361RYR1c.6758A>C (p.His2253Pro)
c.6755A>C (p.His2252Pro)
c.210A>C
n.6841A>C
19g.38496503A>GCA405666359RYR1c.6758A>G (p.His2253Arg)
c.6755A>G (p.His2252Arg)
c.210A>G
n.6841A>G
19g.38496503A>TCA405666360RYR1c.6758A>T (p.His2253Leu)
c.6755A>T (p.His2252Leu)
c.210A>T
n.6841A>T
19g.38496504C>ACA082186RYR1c.6759C>A (p.His2253Gln)
c.6756C>A (p.His2252Gln)
c.211C>A
n.6842C>A
19g.38496504C=CA2335051273RYR1c.6759C= (p.His2253=)
c.6756C= (p.His2252=)
c.211C=
n.6842C=
19g.38496504C>GCA405666362RYR1c.6759C>G (p.His2253Gln)
c.6756C>G (p.His2252Gln)
c.211C>G
n.6842C>G
19g.38496504C>TCA068648RYR1c.6759C>T (p.His2253=)
c.6756C>T (p.His2252=)
c.211C>T
n.6842C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38496505C>ACA405666363RYR1c.6760C>A (p.Leu2254Met)
c.6757C>A (p.Leu2253Met)
c.212C>A
n.6843C>A
19g.38496505C=CA2335051274RYR1c.6760C= (p.Leu2254=)
c.6757C= (p.Leu2253=)
c.212C=
n.6843C=
19g.38496505C>GCA405666364RYR1c.6760C>G (p.Leu2254Val)
c.6757C>G (p.Leu2253Val)
c.212C>G
n.6843C>G
 gnomAD v4
19g.38496505C>TCA507353693RYR1c.6760C>T (p.Leu2254=)
c.6757C>T (p.Leu2253=)
c.212C>T
n.6843C>T
 dbSNP gnomAD v3 gnomAD v4
19g.38496506T>ACA405666365RYR1c.6761T>A (p.Leu2254Gln)
c.6758T>A (p.Leu2253Gln)
c.213T>A
n.6844T>A
19g.38496506T>CCA308104454RYR1c.6761T>C (p.Leu2254Pro)
c.6758T>C (p.Leu2253Pro)
c.213T>C
n.6844T>C
 ClinVar dbSNP gnomAD v4
19g.38496506T>GCA405666366RYR1c.6761T>G (p.Leu2254Arg)
c.6758T>G (p.Leu2253Arg)
c.213T>G
n.6844T>G
 gnomAD v4
19g.38496506T=CA2335051275RYR1c.6761T= (p.Leu2254=)
c.6758T= (p.Leu2253=)
c.213T=
n.6844T=
19g.38496507G>ACA308104481RYR1c.6762G>A (p.Leu2254=)
c.6759G>A (p.Leu2253=)
c.214G>A
n.6845G>A
 ClinVar dbSNP gnomAD v4
19g.38496507G>CCA507353695RYR1c.6762G>C (p.Leu2254=)
c.6759G>C (p.Leu2253=)
c.214G>C
n.6845G>C
19g.38496507G=CA2335051276RYR1c.6762G= (p.Leu2254=)
c.6759G= (p.Leu2253=)
c.214G=
n.6845G=
19g.38496507G>TCA507353696RYR1c.6762G>T (p.Leu2254=)
c.6759G>T (p.Leu2253=)
c.214G>T
n.6845G>T
19g.38496508A>CCA405666367RYR1c.6763A>C (p.Ser2255Arg)
c.6760A>C (p.Ser2254Arg)
c.215A>C
n.6846A>C
19g.38496508A>GCA405666368RYR1c.6763A>G (p.Ser2255Gly)
c.6760A>G (p.Ser2254Gly)
c.215A>G
n.6846A>G
19g.38496508A>TCA405666369RYR1c.6763A>T (p.Ser2255Cys)
c.6760A>T (p.Ser2254Cys)
c.215A>T
n.6846A>T
19g.38496509G>ACA405666370RYR1c.6764G>A (p.Ser2255Asn)
c.6761G>A (p.Ser2254Asn)
c.216G>A
n.6847G>A
 gnomAD v4
19g.38496509G>CCA405666371RYR1c.6764G>C (p.Ser2255Thr)
c.6761G>C (p.Ser2254Thr)
c.216G>C
n.6847G>C
19g.38496509G>TCA405666372RYR1c.6764G>T (p.Ser2255Ile)
c.6761G>T (p.Ser2254Ile)
c.216G>T
n.6847G>T
19g.38496510C>ACA405666373RYR1c.6765C>A (p.Ser2255Arg)
c.6762C>A (p.Ser2254Arg)
c.217C>A
n.6848C>A
19g.38496510C>GCA405666374RYR1c.6765C>G (p.Ser2255Arg)
c.6762C>G (p.Ser2254Arg)
c.217C>G
n.6848C>G
19g.38496510C>TCA507353702RYR1c.6765C>T (p.Ser2255=)
c.6762C>T (p.Ser2254=)
c.217C>T
n.6848C>T
 ClinVar

Number of alleles fetched