Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38587335T>ACA405693999RYR1c.1957+759T>A
c.3365T>A
c.3337T>A
n.425T>A
c.15032T>A (p.Val5011Asp)
c.15017T>A (p.Val5006Asp)
c.15014T>A (p.Val5005Asp)
c.14999T>A (p.Val5000Asp)
c.15029T>A (p.Val5010Asp)
c.14945T>A (p.Val4982Asp)
19g.38587335T>CCA405694000RYR1c.1957+759T>C
c.3365T>C
c.3337T>C
n.425T>C
c.15032T>C (p.Val5011Ala)
c.15017T>C (p.Val5006Ala)
c.15014T>C (p.Val5005Ala)
c.14999T>C (p.Val5000Ala)
c.15029T>C (p.Val5010Ala)
c.14945T>C (p.Val4982Ala)
19g.38587335T>GCA405694002RYR1c.1957+759T>G
c.3365T>G
c.3337T>G
n.425T>G
c.15032T>G (p.Val5011Gly)
c.15017T>G (p.Val5006Gly)
c.15014T>G (p.Val5005Gly)
c.14999T>G (p.Val5000Gly)
c.15029T>G (p.Val5010Gly)
c.14945T>G (p.Val4982Gly)
19g.38587336C>ACA507246903RYR1c.1957+760C>A
c.3366C>A
c.3338C>A
n.426C>A
c.15033C>A (p.Val5011=)
c.15018C>A (p.Val5006=)
c.15015C>A (p.Val5005=)
c.15000C>A (p.Val5000=)
c.15030C>A (p.Val5010=)
c.14946C>A (p.Val4982=)
 gnomAD v4
19g.38587336C=CA2335096108RYR1c.1957+760C=
c.3366C=
c.3338C=
n.426C=
c.15033C= (p.Val5011=)
c.15018C= (p.Val5006=)
c.15015C= (p.Val5005=)
c.15000C= (p.Val5000=)
c.15030C= (p.Val5010=)
c.14946C= (p.Val4982=)
19g.38587336C>GCA507246904RYR1c.1957+760C>G
c.3366C>G
c.3338C>G
n.426C>G
c.15033C>G (p.Val5011=)
c.15018C>G (p.Val5006=)
c.15015C>G (p.Val5005=)
c.15000C>G (p.Val5000=)
c.15030C>G (p.Val5010=)
c.14946C>G (p.Val4982=)
19g.38587336C>TCA507246905RYR1c.1957+760C>T
c.3366C>T
c.3338C>T
n.426C>T
c.15033C>T (p.Val5011=)
c.15018C>T (p.Val5006=)
c.15015C>T (p.Val5005=)
c.15000C>T (p.Val5000=)
c.15030C>T (p.Val5010=)
c.14946C>T (p.Val4982=)
19g.38587337T>ACA405694006RYR1c.1957+761T>A
c.3367T>A
c.3339T>A
n.427T>A
c.15034T>A (p.Trp5012Arg)
c.15019T>A (p.Trp5007Arg)
c.15016T>A (p.Trp5006Arg)
c.15001T>A (p.Trp5001Arg)
c.15031T>A (p.Trp5011Arg)
c.14947T>A (p.Trp4983Arg)
 ClinVar dbSNP
19g.38587337T>CCA405694008RYR1c.1957+761T>C
c.3367T>C
c.3339T>C
n.427T>C
c.15034T>C (p.Trp5012Arg)
c.15019T>C (p.Trp5007Arg)
c.15016T>C (p.Trp5006Arg)
c.15001T>C (p.Trp5001Arg)
c.15031T>C (p.Trp5011Arg)
c.14947T>C (p.Trp4983Arg)
19g.38587337T>GCA405694009RYR1c.1957+761T>G
c.3367T>G
c.3339T>G
n.427T>G
c.15034T>G (p.Trp5012Gly)
c.15019T>G (p.Trp5007Gly)
c.15016T>G (p.Trp5006Gly)
c.15001T>G (p.Trp5001Gly)
c.15031T>G (p.Trp5011Gly)
c.14947T>G (p.Trp4983Gly)
19g.38587337T=CA2335096109RYR1c.1957+761T=
c.3367T=
c.3339T=
n.427T=
c.15034T= (p.Trp5012=)
c.15019T= (p.Trp5007=)
c.15016T= (p.Trp5006=)
c.15001T= (p.Trp5001=)
c.15031T= (p.Trp5011=)
c.14947T= (p.Trp4983=)
19g.38587337dupCA632878475RYR1c.1957+761dup
c.3367dup
c.3339dup
n.427dup
c.15034dup (p.Trp5012LeufsTer16)
c.15019dup (p.Trp5007LeufsTer16)
c.15016dup (p.Trp5006LeufsTer16)
c.15001dup (p.Trp5001LeufsTer16)
c.15031dup (p.Trp5011LeufsTer16)
c.14947dup (p.Trp4983LeufsTer16)
 dbSNP gnomAD v2 gnomAD v4
19g.38587338G>ACA081409RYR1c.1957+762G>A
c.3368G>A
c.3340G>A
n.428G>A
c.15035G>A (p.Trp5012Ter)
c.15020G>A (p.Trp5007Ter)
c.15017G>A (p.Trp5006Ter)
c.15002G>A (p.Trp5001Ter)
c.15032G>A (p.Trp5011Ter)
c.14948G>A (p.Trp4983Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38587338G>CCA405694011RYR1c.1957+762G>C
c.3368G>C
c.3340G>C
n.428G>C
c.15035G>C (p.Trp5012Ser)
c.15020G>C (p.Trp5007Ser)
c.15017G>C (p.Trp5006Ser)
c.15002G>C (p.Trp5001Ser)
c.15032G>C (p.Trp5011Ser)
c.14948G>C (p.Trp4983Ser)
19g.38587338G=CA2335096110RYR1c.1957+762G=
c.3368G=
c.3340G=
n.428G=
c.15035G= (p.Trp5012=)
c.15020G= (p.Trp5007=)
c.15017G= (p.Trp5006=)
c.15002G= (p.Trp5001=)
c.15032G= (p.Trp5011=)
c.14948G= (p.Trp4983=)
19g.38587338G>TCA405694012RYR1c.1957+762G>T
c.3368G>T
c.3340G>T
n.428G>T
c.15035G>T (p.Trp5012Leu)
c.15020G>T (p.Trp5007Leu)
c.15017G>T (p.Trp5006Leu)
c.15002G>T (p.Trp5001Leu)
c.15032G>T (p.Trp5011Leu)
c.14948G>T (p.Trp4983Leu)
19g.38587339G>ACA405694015RYR1c.1957+763G>A
c.3369G>A
c.3341G>A
n.429G>A
c.15036G>A (p.Trp5012Ter)
c.15021G>A (p.Trp5007Ter)
c.15018G>A (p.Trp5006Ter)
c.15003G>A (p.Trp5001Ter)
c.15033G>A (p.Trp5011Ter)
c.14949G>A (p.Trp4983Ter)
19g.38587339G>CCA405694018RYR1c.1957+763G>C
c.3369G>C
c.3341G>C
n.429G>C
c.15036G>C (p.Trp5012Cys)
c.15021G>C (p.Trp5007Cys)
c.15018G>C (p.Trp5006Cys)
c.15003G>C (p.Trp5001Cys)
c.15033G>C (p.Trp5011Cys)
c.14949G>C (p.Trp4983Cys)
19g.38587339G>TCA405694028RYR1c.1957+763G>T
c.3369G>T
c.3341G>T
n.429G>T
c.15036G>T (p.Trp5012Cys)
c.15021G>T (p.Trp5007Cys)
c.15018G>T (p.Trp5006Cys)
c.15003G>T (p.Trp5001Cys)
c.15033G>T (p.Trp5011Cys)
c.14949G>T (p.Trp4983Cys)
 ClinVar gnomAD v4
19g.38587340A>CCA405694038RYR1c.1957+764A>C
c.3370A>C
c.3342A>C
n.430A>C
c.15037A>C (p.Lys5013Gln)
c.15022A>C (p.Lys5008Gln)
c.15019A>C (p.Lys5007Gln)
c.15004A>C (p.Lys5002Gln)
c.15034A>C (p.Lys5012Gln)
c.14950A>C (p.Lys4984Gln)
19g.38587340A>GCA405694035RYR1c.1957+764A>G
c.3370A>G
c.3342A>G
n.430A>G
c.15037A>G (p.Lys5013Glu)
c.15022A>G (p.Lys5008Glu)
c.15019A>G (p.Lys5007Glu)
c.15004A>G (p.Lys5002Glu)
c.15034A>G (p.Lys5012Glu)
c.14950A>G (p.Lys4984Glu)
19g.38587340A>TCA405694033RYR1c.1957+764A>T
c.3370A>T
c.3342A>T
n.430A>T
c.15037A>T (p.Lys5013Ter)
c.15022A>T (p.Lys5008Ter)
c.15019A>T (p.Lys5007Ter)
c.15004A>T (p.Lys5002Ter)
c.15034A>T (p.Lys5012Ter)
c.14950A>T (p.Lys4984Ter)
19g.38587341A>CCA405694042RYR1c.1957+765A>C
c.3371A>C
c.3343A>C
n.431A>C
c.15038A>C (p.Lys5013Thr)
c.15023A>C (p.Lys5008Thr)
c.15020A>C (p.Lys5007Thr)
c.15005A>C (p.Lys5002Thr)
c.15035A>C (p.Lys5012Thr)
c.14951A>C (p.Lys4984Thr)
19g.38587341A>GCA405694043RYR1c.1957+765A>G
c.3371A>G
c.3343A>G
n.431A>G
c.15038A>G (p.Lys5013Arg)
c.15023A>G (p.Lys5008Arg)
c.15020A>G (p.Lys5007Arg)
c.15005A>G (p.Lys5002Arg)
c.15035A>G (p.Lys5012Arg)
c.14951A>G (p.Lys4984Arg)
 gnomAD v4
19g.38587341A>TCA405694045RYR1c.1957+765A>T
c.3371A>T
c.3343A>T
n.431A>T
c.15038A>T (p.Lys5013Met)
c.15023A>T (p.Lys5008Met)
c.15020A>T (p.Lys5007Met)
c.15005A>T (p.Lys5002Met)
c.15035A>T (p.Lys5012Met)
c.14951A>T (p.Lys4984Met)
19g.38587342G>ACA062029RYR1c.1957+766G>A
c.3372G>A
c.3344G>A
n.432G>A
c.15039G>A (p.Lys5013=)
c.15024G>A (p.Lys5008=)
c.15021G>A (p.Lys5007=)
c.15006G>A (p.Lys5002=)
c.15036G>A (p.Lys5012=)
c.14952G>A (p.Lys4984=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38587342G>CCA405694049RYR1c.1957+766G>C
c.3372G>C
c.3344G>C
n.432G>C
c.15039G>C (p.Lys5013Asn)
c.15024G>C (p.Lys5008Asn)
c.15021G>C (p.Lys5007Asn)
c.15006G>C (p.Lys5002Asn)
c.15036G>C (p.Lys5012Asn)
c.14952G>C (p.Lys4984Asn)
19g.38587342G=CA2335096111RYR1c.1957+766G=
c.3372G=
c.3344G=
n.432G=
c.15039G= (p.Lys5013=)
c.15024G= (p.Lys5008=)
c.15021G= (p.Lys5007=)
c.15006G= (p.Lys5002=)
c.15036G= (p.Lys5012=)
c.14952G= (p.Lys4984=)
19g.38587342G>TCA405694052RYR1c.1957+766G>T
c.3372G>T
c.3344G>T
n.432G>T
c.15039G>T (p.Lys5013Asn)
c.15024G>T (p.Lys5008Asn)
c.15021G>T (p.Lys5007Asn)
c.15006G>T (p.Lys5002Asn)
c.15036G>T (p.Lys5012Asn)
c.14952G>T (p.Lys4984Asn)
19g.38587343A>CCA405694056RYR1c.1957+767A>C
c.3373A>C
c.3345A>C
n.433A>C
c.15040A>C (p.Met5014Leu)
c.15025A>C (p.Met5009Leu)
c.15022A>C (p.Met5008Leu)
c.15007A>C (p.Met5003Leu)
c.15037A>C (p.Met5013Leu)
c.14953A>C (p.Met4985Leu)
19g.38587343A>GCA405694059RYR1c.1957+767A>G
c.3373A>G
c.3345A>G
n.433A>G
c.15040A>G (p.Met5014Val)
c.15025A>G (p.Met5009Val)
c.15022A>G (p.Met5008Val)
c.15007A>G (p.Met5003Val)
c.15037A>G (p.Met5013Val)
c.14953A>G (p.Met4985Val)
 gnomAD v4
19g.38587343A>TCA405694061RYR1c.1957+767A>T
c.3373A>T
c.3345A>T
n.433A>T
c.15040A>T (p.Met5014Leu)
c.15025A>T (p.Met5009Leu)
c.15022A>T (p.Met5008Leu)
c.15007A>T (p.Met5003Leu)
c.15037A>T (p.Met5013Leu)
c.14953A>T (p.Met4985Leu)
19g.38587344T>ACA405694065RYR1c.1957+768T>A
c.3374T>A
c.3346T>A
n.434T>A
c.15041T>A (p.Met5014Lys)
c.15026T>A (p.Met5009Lys)
c.15023T>A (p.Met5008Lys)
c.15008T>A (p.Met5003Lys)
c.15038T>A (p.Met5013Lys)
c.14954T>A (p.Met4985Lys)
19g.38587344T>CCA405694067RYR1c.1957+768T>C
c.3374T>C
c.3346T>C
n.434T>C
c.15041T>C (p.Met5014Thr)
c.15026T>C (p.Met5009Thr)
c.15023T>C (p.Met5008Thr)
c.15008T>C (p.Met5003Thr)
c.15038T>C (p.Met5013Thr)
c.14954T>C (p.Met4985Thr)
19g.38587344T>GCA405694069RYR1c.1957+768T>G
c.3374T>G
c.3346T>G
n.434T>G
c.15041T>G (p.Met5014Arg)
c.15026T>G (p.Met5009Arg)
c.15023T>G (p.Met5008Arg)
c.15008T>G (p.Met5003Arg)
c.15038T>G (p.Met5013Arg)
c.14954T>G (p.Met4985Arg)
 ClinVar dbSNP
19g.38587345G>ACA081428RYR1c.1957+769G>A
c.3375G>A
c.3347G>A
n.435G>A
c.15042G>A (p.Met5014Ile)
c.15027G>A (p.Met5009Ile)
c.15024G>A (p.Met5008Ile)
c.15009G>A (p.Met5003Ile)
c.15039G>A (p.Met5013Ile)
c.14955G>A (p.Met4985Ile)
19g.38587345G>CCA405694075RYR1c.1957+769G>C
c.3375G>C
c.3347G>C
n.435G>C
c.15042G>C (p.Met5014Ile)
c.15027G>C (p.Met5009Ile)
c.15024G>C (p.Met5008Ile)
c.15009G>C (p.Met5003Ile)
c.15039G>C (p.Met5013Ile)
c.14955G>C (p.Met4985Ile)
19g.38587345G>TCA405694073RYR1c.1957+769G>T
c.3375G>T
c.3347G>T
n.435G>T
c.15042G>T (p.Met5014Ile)
c.15027G>T (p.Met5009Ile)
c.15024G>T (p.Met5008Ile)
c.15009G>T (p.Met5003Ile)
c.15039G>T (p.Met5013Ile)
c.14955G>T (p.Met4985Ile)
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=)

Number of alleles fetched