Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38587346T>ACA405694080RYR1c.1957+770T>A
c.3376T>A
c.3348T>A
n.436T>A
c.15043T>A (p.Tyr5015Asn)
c.15028T>A (p.Tyr5010Asn)
c.15025T>A (p.Tyr5009Asn)
c.15010T>A (p.Tyr5004Asn)
c.15040T>A (p.Tyr5014Asn)
c.14956T>A (p.Tyr4986Asn)
19g.38587346T>CCA405694085RYR1c.1957+770T>C
c.3376T>C
c.3348T>C
n.436T>C
c.15043T>C (p.Tyr5015His)
c.15028T>C (p.Tyr5010His)
c.15025T>C (p.Tyr5009His)
c.15010T>C (p.Tyr5004His)
c.15040T>C (p.Tyr5014His)
c.14956T>C (p.Tyr4986His)
19g.38587346T>GCA405694083RYR1c.1957+770T>G
c.3376T>G
c.3348T>G
n.436T>G
c.15043T>G (p.Tyr5015Asp)
c.15028T>G (p.Tyr5010Asp)
c.15025T>G (p.Tyr5009Asp)
c.15010T>G (p.Tyr5004Asp)
c.15040T>G (p.Tyr5014Asp)
c.14956T>G (p.Tyr4986Asp)
19g.38587347A=CA2335096112RYR1c.1957+771A=
c.3377A=
c.3349A=
n.437A=
c.15044A= (p.Tyr5015=)
c.15029A= (p.Tyr5010=)
c.15026A= (p.Tyr5009=)
c.15011A= (p.Tyr5004=)
c.15041A= (p.Tyr5014=)
c.14957A= (p.Tyr4986=)
19g.38587347A>CCA405694090RYR1c.1957+771A>C
c.3377A>C
c.3349A>C
n.437A>C
c.15044A>C (p.Tyr5015Ser)
c.15029A>C (p.Tyr5010Ser)
c.15026A>C (p.Tyr5009Ser)
c.15011A>C (p.Tyr5004Ser)
c.15041A>C (p.Tyr5014Ser)
c.14957A>C (p.Tyr4986Ser)
19g.38587347A>GCA405694096RYR1c.1957+771A>G
c.3377A>G
c.3349A>G
n.437A>G
c.15044A>G (p.Tyr5015Cys)
c.15029A>G (p.Tyr5010Cys)
c.15026A>G (p.Tyr5009Cys)
c.15011A>G (p.Tyr5004Cys)
c.15041A>G (p.Tyr5014Cys)
c.14957A>G (p.Tyr4986Cys)
 dbSNP
19g.38587347A>TCA405694094RYR1c.1957+771A>T
c.3377A>T
c.3349A>T
n.437A>T
c.15044A>T (p.Tyr5015Phe)
c.15029A>T (p.Tyr5010Phe)
c.15026A>T (p.Tyr5009Phe)
c.15011A>T (p.Tyr5004Phe)
c.15041A>T (p.Tyr5014Phe)
c.14957A>T (p.Tyr4986Phe)
19g.38587348C>ACA405694098RYR1c.1957+772C>A
c.3378C>A
c.3350C>A
n.438C>A
c.15045C>A (p.Tyr5015Ter)
c.15030C>A (p.Tyr5010Ter)
c.15027C>A (p.Tyr5009Ter)
c.15012C>A (p.Tyr5004Ter)
c.15042C>A (p.Tyr5014Ter)
c.14958C>A (p.Tyr4986Ter)
19g.38587348C>GCA405694102RYR1c.1957+772C>G
c.3378C>G
c.3350C>G
n.438C>G
c.15045C>G (p.Tyr5015Ter)
c.15030C>G (p.Tyr5010Ter)
c.15027C>G (p.Tyr5009Ter)
c.15012C>G (p.Tyr5004Ter)
c.15042C>G (p.Tyr5014Ter)
c.14958C>G (p.Tyr4986Ter)
19g.38587348C>TCA507246913RYR1c.1957+772C>T
c.3378C>T
c.3350C>T
n.438C>T
c.15045C>T (p.Tyr5015=)
c.15030C>T (p.Tyr5010=)
c.15027C>T (p.Tyr5009=)
c.15012C>T (p.Tyr5004=)
c.15042C>T (p.Tyr5014=)
c.14958C>T (p.Tyr4986=)
 gnomAD v4
19g.38587349C>ACA405694103RYR1c.1957+773C>A
c.3379C>A
c.3351C>A
n.439C>A
c.15046C>A (p.Gln5016Lys)
c.15031C>A (p.Gln5011Lys)
c.15028C>A (p.Gln5010Lys)
c.15013C>A (p.Gln5005Lys)
c.15043C>A (p.Gln5015Lys)
c.14959C>A (p.Gln4987Lys)
19g.38587349C=CA2335096113RYR1c.1957+773C=
c.3379C=
c.3351C=
n.439C=
c.15046C= (p.Gln5016=)
c.15031C= (p.Gln5011=)
c.15028C= (p.Gln5010=)
c.15013C= (p.Gln5005=)
c.15043C= (p.Gln5015=)
c.14959C= (p.Gln4987=)
19g.38587349C>GCA405694107RYR1c.1957+773C>G
c.3379C>G
c.3351C>G
n.439C>G
c.15046C>G (p.Gln5016Glu)
c.15031C>G (p.Gln5011Glu)
c.15028C>G (p.Gln5010Glu)
c.15013C>G (p.Gln5005Glu)
c.15043C>G (p.Gln5015Glu)
c.14959C>G (p.Gln4987Glu)
 dbSNP gnomAD v3 gnomAD v4
19g.38587349C>TCA405694109RYR1c.1957+773C>T
c.3379C>T
c.3351C>T
n.439C>T
c.15046C>T (p.Gln5016Ter)
c.15031C>T (p.Gln5011Ter)
c.15028C>T (p.Gln5010Ter)
c.15013C>T (p.Gln5005Ter)
c.15043C>T (p.Gln5015Ter)
c.14959C>T (p.Gln4987Ter)
19g.38587349_38587351delinsCAACA2335096114RYR1c.1957+773_1957+775delinsCAA
c.3379_3381delinsCAA
c.3351_3353delinsCAA
n.439_441delinsCAA
c.15046_15048delinsCAA (p.Gln5016=)
c.15031_15033delinsCAA (p.Gln5011=)
c.15028_15030delinsCAA (p.Gln5010=)
c.15013_15015delinsCAA (p.Gln5005=)
c.15043_15045delinsCAA (p.Gln5015=)
c.14959_14961delinsCAA (p.Gln4987=)
19g.38587349_38587353delinsCAAGACA2335096115RYR1c.1957+773_1957+777delinsCAAGA
c.3379_3383delinsCAAGA
c.3351_3355delinsCAAGA
n.439_443delinsCAAGA
c.15046_15050delinsCAAGA (p.Gln5016=)
c.15031_15035delinsCAAGA (p.Gln5011=)
c.15028_15032delinsCAAGA (p.Gln5010=)
c.15013_15017delinsCAAGA (p.Gln5005=)
c.15043_15047delinsCAAGA (p.Gln5015=)
c.14959_14963delinsCAAGA (p.Gln4987=)
19g.38587350A=CA2335096117RYR1c.1957+774A=
c.3380A=
c.3352A=
n.440A=
c.15047A= (p.Gln5016=)
c.15032A= (p.Gln5011=)
c.15029A= (p.Gln5010=)
c.15014A= (p.Gln5005=)
c.15044A= (p.Gln5015=)
c.14960A= (p.Gln4987=)
19g.38587350A>CCA405694112RYR1c.1957+774A>C
c.3380A>C
c.3352A>C
n.440A>C
c.15047A>C (p.Gln5016Pro)
c.15032A>C (p.Gln5011Pro)
c.15029A>C (p.Gln5010Pro)
c.15014A>C (p.Gln5005Pro)
c.15044A>C (p.Gln5015Pro)
c.14960A>C (p.Gln4987Pro)
19g.38587350A>GCA405694113RYR1c.1957+774A>G
c.3380A>G
c.3352A>G
n.440A>G
c.15047A>G (p.Gln5016Arg)
c.15032A>G (p.Gln5011Arg)
c.15029A>G (p.Gln5010Arg)
c.15014A>G (p.Gln5005Arg)
c.15044A>G (p.Gln5015Arg)
c.14960A>G (p.Gln4987Arg)
 dbSNP
19g.38587350A>TCA405694117RYR1c.1957+774A>T
c.3380A>T
c.3352A>T
n.440A>T
c.15047A>T (p.Gln5016Leu)
c.15032A>T (p.Gln5011Leu)
c.15029A>T (p.Gln5010Leu)
c.15014A>T (p.Gln5005Leu)
c.15044A>T (p.Gln5015Leu)
c.14960A>T (p.Gln4987Leu)
19g.38587350_38587351delCA658658810RYR1c.1957+774_1957+775del
c.3380_3381del
c.3352_3353del
n.440_441del
c.15047_15048del (p.Gln5016ArgfsTer11)
c.15032_15033del (p.Gln5011ArgfsTer11)
c.15029_15030del (p.Gln5010ArgfsTer11)
c.15014_15015del (p.Gln5005ArgfsTer11)
c.15044_15045del (p.Gln5015ArgfsTer11)
c.14960_14961del (p.Gln4987ArgfsTer11)
 ClinVar dbSNP
19g.38587350_38587353delCA2335096116RYR1c.1957+774_1957+777del
c.3380_3383del
c.3352_3355del
n.440_443del
c.15047_15050del (p.Gln5016ArgfsTer?)
c.15032_15035del (p.Gln5011ArgfsTer?)
c.15029_15032del (p.Gln5010ArgfsTer?)
c.15014_15017del (p.Gln5005ArgfsTer?)
c.15044_15047del (p.Gln5015ArgfsTer?)
c.14960_14963del (p.Gln4987ArgfsTer?)
 dbSNP
19g.38587351A=CA2335096118RYR1c.1957+775A=
c.3381A=
c.3353A=
n.441A=
c.15048A= (p.Gln5016=)
c.15033A= (p.Gln5011=)
c.15030A= (p.Gln5010=)
c.15015A= (p.Gln5005=)
c.15045A= (p.Gln5015=)
c.14961A= (p.Gln4987=)
19g.38587351A>CCA405694120RYR1c.1957+775A>C
c.3381A>C
c.3353A>C
n.441A>C
c.15048A>C (p.Gln5016His)
c.15033A>C (p.Gln5011His)
c.15030A>C (p.Gln5010His)
c.15015A>C (p.Gln5005His)
c.15045A>C (p.Gln5015His)
c.14961A>C (p.Gln4987His)
19g.38587351A>GCA062037RYR1c.1957+775A>G
c.3381A>G
c.3353A>G
n.441A>G
c.15048A>G (p.Gln5016=)
c.15033A>G (p.Gln5011=)
c.15030A>G (p.Gln5010=)
c.15015A>G (p.Gln5005=)
c.15045A>G (p.Gln5015=)
c.14961A>G (p.Gln4987=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38587351A>TCA405694126RYR1c.1957+775A>T
c.3381A>T
c.3353A>T
n.441A>T
c.15048A>T (p.Gln5016His)
c.15033A>T (p.Gln5011His)
c.15030A>T (p.Gln5010His)
c.15015A>T (p.Gln5005His)
c.15045A>T (p.Gln5015His)
c.14961A>T (p.Gln4987His)
19g.38587352G>ACA405694128RYR1c.1957+776G>A
c.3382G>A
c.3354G>A
n.442G>A
c.15049G>A (p.Glu5017Lys)
c.15034G>A (p.Glu5012Lys)
c.15031G>A (p.Glu5011Lys)
c.15016G>A (p.Glu5006Lys)
c.15046G>A (p.Glu5016Lys)
c.14962G>A (p.Glu4988Lys)
 gnomAD v4
19g.38587352G>CCA405694130RYR1c.1957+776G>C
c.3382G>C
c.3354G>C
n.442G>C
c.15049G>C (p.Glu5017Gln)
c.15034G>C (p.Glu5012Gln)
c.15031G>C (p.Glu5011Gln)
c.15016G>C (p.Glu5006Gln)
c.15046G>C (p.Glu5016Gln)
c.14962G>C (p.Glu4988Gln)
19g.38587352G>TCA405694133RYR1c.1957+776G>T
c.3382G>T
c.3354G>T
n.442G>T
c.15049G>T (p.Glu5017Ter)
c.15034G>T (p.Glu5012Ter)
c.15031G>T (p.Glu5011Ter)
c.15016G>T (p.Glu5006Ter)
c.15046G>T (p.Glu5016Ter)
c.14962G>T (p.Glu4988Ter)
19g.38587353A>CCA405694136RYR1c.1957+777A>C
c.3383A>C
c.3355A>C
n.443A>C
c.15050A>C (p.Glu5017Ala)
c.15035A>C (p.Glu5012Ala)
c.15032A>C (p.Glu5011Ala)
c.15017A>C (p.Glu5006Ala)
c.15047A>C (p.Glu5016Ala)
c.14963A>C (p.Glu4988Ala)
19g.38587353A>GCA405694142RYR1c.1957+777A>G
c.3383A>G
c.3355A>G
n.443A>G
c.15050A>G (p.Glu5017Gly)
c.15035A>G (p.Glu5012Gly)
c.15032A>G (p.Glu5011Gly)
c.15017A>G (p.Glu5006Gly)
c.15047A>G (p.Glu5016Gly)
c.14963A>G (p.Glu4988Gly)
19g.38587353A>TCA405694140RYR1c.1957+777A>T
c.3383A>T
c.3355A>T
n.443A>T
c.15050A>T (p.Glu5017Val)
c.15035A>T (p.Glu5012Val)
c.15032A>T (p.Glu5011Val)
c.15017A>T (p.Glu5006Val)
c.15047A>T (p.Glu5016Val)
c.14963A>T (p.Glu4988Val)
19g.38587354G>ACA507246919RYR1c.1957+778G>A
c.3384G>A
c.3356G>A
n.444G>A
c.15051G>A (p.Glu5017=)
c.15036G>A (p.Glu5012=)
c.15033G>A (p.Glu5011=)
c.15018G>A (p.Glu5006=)
c.15048G>A (p.Glu5016=)
c.14964G>A (p.Glu4988=)
 gnomAD v4
19g.38587354G>CCA405694144RYR1c.1957+778G>C
c.3384G>C
c.3356G>C
n.444G>C
c.15051G>C (p.Glu5017Asp)
c.15036G>C (p.Glu5012Asp)
c.15033G>C (p.Glu5011Asp)
c.15018G>C (p.Glu5006Asp)
c.15048G>C (p.Glu5016Asp)
c.14964G>C (p.Glu4988Asp)
19g.38587354G>TCA405694148RYR1c.1957+778G>T
c.3384G>T
c.3356G>T
n.444G>T
c.15051G>T (p.Glu5017Asp)
c.15036G>T (p.Glu5012Asp)
c.15033G>T (p.Glu5011Asp)
c.15018G>T (p.Glu5006Asp)
c.15048G>T (p.Glu5016Asp)
c.14964G>T (p.Glu4988Asp)
19g.38587355A>CCA507246923RYR1c.1957+779A>C
c.3385A>C
c.3357A>C
n.445A>C
c.15052A>C (p.Arg5018=)
c.15037A>C (p.Arg5013=)
c.15034A>C (p.Arg5012=)
c.15019A>C (p.Arg5007=)
c.15049A>C (p.Arg5017=)
c.14965A>C (p.Arg4989=)
19g.38587355A>GCA405694151RYR1c.1957+779A>G
c.3385A>G
c.3357A>G
n.445A>G
c.15052A>G (p.Arg5018Gly)
c.15037A>G (p.Arg5013Gly)
c.15034A>G (p.Arg5012Gly)
c.15019A>G (p.Arg5007Gly)
c.15049A>G (p.Arg5017Gly)
c.14965A>G (p.Arg4989Gly)
19g.38587355A>TCA405694152RYR1c.1957+779A>T
c.3385A>T
c.3357A>T
n.445A>T
c.15052A>T (p.Arg5018Ter)
c.15037A>T (p.Arg5013Ter)
c.15034A>T (p.Arg5012Ter)
c.15019A>T (p.Arg5007Ter)
c.15049A>T (p.Arg5017Ter)
c.14965A>T (p.Arg4989Ter)
19g.38587356G>ACA405694153RYR1c.1957+780G>A
c.3386G>A
c.3358G>A
n.446G>A
c.15053G>A (p.Arg5018Lys)
c.15038G>A (p.Arg5013Lys)
c.15035G>A (p.Arg5012Lys)
c.15020G>A (p.Arg5007Lys)
c.15050G>A (p.Arg5017Lys)
c.14966G>A (p.Arg4989Lys)
19g.38587356G>CCA405694156RYR1c.1957+780G>C
c.3386G>C
c.3358G>C
n.446G>C
c.15053G>C (p.Arg5018Thr)
c.15038G>C (p.Arg5013Thr)
c.15035G>C (p.Arg5012Thr)
c.15020G>C (p.Arg5007Thr)
c.15050G>C (p.Arg5017Thr)
c.14966G>C (p.Arg4989Thr)
19g.38587356G>TCA405694161RYR1c.1957+780G>T
c.3386G>T
c.3358G>T
n.446G>T
c.15053G>T (p.Arg5018Ile)
c.15038G>T (p.Arg5013Ile)
c.15035G>T (p.Arg5012Ile)
c.15020G>T (p.Arg5007Ile)
c.15050G>T (p.Arg5017Ile)
c.14966G>T (p.Arg4989Ile)
 COSMIC
19g.38587357A>CCA405694164RYR1c.1957+781A>C
c.3387A>C
c.3359A>C
n.447A>C
c.15054A>C (p.Arg5018Ser)
c.15039A>C (p.Arg5013Ser)
c.15036A>C (p.Arg5012Ser)
c.15021A>C (p.Arg5007Ser)
c.15051A>C (p.Arg5017Ser)
c.14967A>C (p.Arg4989Ser)
19g.38587357A>GCA507246924RYR1c.1957+781A>G
c.3387A>G
c.3359A>G
n.447A>G
c.15054A>G (p.Arg5018=)
c.15039A>G (p.Arg5013=)
c.15036A>G (p.Arg5012=)
c.15021A>G (p.Arg5007=)
c.15051A>G (p.Arg5017=)
c.14967A>G (p.Arg4989=)
19g.38587357A>TCA405694166RYR1c.1957+781A>T
c.3387A>T
c.3359A>T
n.447A>T
c.15054A>T (p.Arg5018Ser)
c.15039A>T (p.Arg5013Ser)
c.15036A>T (p.Arg5012Ser)
c.15021A>T (p.Arg5007Ser)
c.15051A>T (p.Arg5017Ser)
c.14967A>T (p.Arg4989Ser)
19g.38587357_38587360delinsATGTCA2335096119RYR1c.1957+781_1957+784delinsATGT
c.3387_3390delinsATGT
c.3359_3362delinsATGT
n.447_450delinsATGT
c.15054_15057delinsATGT (p.Arg5018=)
c.15039_15042delinsATGT (p.Arg5013=)
c.15036_15039delinsATGT (p.Arg5012=)
c.15021_15024delinsATGT (p.Arg5007=)
c.15051_15054delinsATGT (p.Arg5017=)
c.14967_14970delinsATGT (p.Arg4989=)
19g.38587358T>ACA405694170RYR1c.1957+782T>A
c.3388T>A
c.3360T>A
n.448T>A
c.15055T>A (p.Cys5019Ser)
c.15040T>A (p.Cys5014Ser)
c.15037T>A (p.Cys5013Ser)
c.15022T>A (p.Cys5008Ser)
c.15052T>A (p.Cys5018Ser)
c.14968T>A (p.Cys4990Ser)
19g.38587358T>CCA405694172RYR1c.1957+782T>C
c.3388T>C
c.3360T>C
n.448T>C
c.15055T>C (p.Cys5019Arg)
c.15040T>C (p.Cys5014Arg)
c.15037T>C (p.Cys5013Arg)
c.15022T>C (p.Cys5008Arg)
c.15052T>C (p.Cys5018Arg)
c.14968T>C (p.Cys4990Arg)
 gnomAD v4
19g.38587358T>GCA405694168RYR1c.1957+782T>G
c.3388T>G
c.3360T>G
n.448T>G
c.15055T>G (p.Cys5019Gly)
c.15040T>G (p.Cys5014Gly)
c.15037T>G (p.Cys5013Gly)
c.15022T>G (p.Cys5008Gly)
c.15052T>G (p.Cys5018Gly)
c.14968T>G (p.Cys4990Gly)
19g.38587360_38587362delCA2335096121RYR1c.1957+784_1957+786del
c.3390_3392del
c.3362_3364del
n.450_452del
c.15057_15059del (p.Cys5019del)
c.15042_15044del (p.Cys5014del)
c.15039_15041del (p.Cys5013del)
c.15024_15026del (p.Cys5008del)
c.15054_15056del (p.Cys5018del)
c.14970_14972del (p.Cys4990del)
 dbSNP
19g.38587358_38587364delinsTGTTGGGCA2335096120RYR1c.1957+782_1957+788delinsTGTTGGG
c.3388_3394delinsTGTTGGG
c.3360_3366delinsTGTTGGG
n.448_454delinsTGTTGGG
c.15055_15061delinsTGTTGGG (p.Cys5019=)
c.15040_15046delinsTGTTGGG (p.Cys5014=)
c.15037_15043delinsTGTTGGG (p.Cys5013=)
c.15022_15028delinsTGTTGGG (p.Cys5008=)
c.15052_15058delinsTGTTGGG (p.Cys5018=)
c.14968_14974delinsTGTTGGG (p.Cys4990=)

Number of alleles fetched