Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38580362G>ACA061372RYR1c.1448-8G>A
c.2845-8G>A
c.2817-8G>A
c.14512-8G>A (n.14512-8G>A)
c.14497-8G>A (n.14497-8G>A)
c.14494-8G>A (n.14494-8G>A)
c.14479-8G>A (n.14479-8G>A)
c.14509-8G>A (n.14509-8G>A)
c.14425-8G>A (n.14425-8G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38580362G=CA2335092436RYR1c.1448-8G=
c.2845-8G=
c.2817-8G=
c.14512-8G= (n.14512-8G=)
c.14497-8G= (n.14497-8G=)
c.14494-8G= (n.14494-8G=)
c.14479-8G= (n.14479-8G=)
c.14509-8G= (n.14509-8G=)
c.14425-8G= (n.14425-8G=)
19g.38580362G>TCA2335092437RYR1c.1448-8G>T
c.2845-8G>T
c.2817-8G>T
c.14512-8G>T (n.14512-8G>T)
c.14497-8G>T (n.14497-8G>T)
c.14494-8G>T (n.14494-8G>T)
c.14479-8G>T (n.14479-8G>T)
c.14509-8G>T (n.14509-8G>T)
c.14425-8G>T (n.14425-8G>T)
 ClinVar dbSNP
19g.38580363C>TCA081246RYR1c.1448-7C>T
c.2845-7C>T
c.2817-7C>T
c.14512-7C>T (n.14512-7C>T)
c.14497-7C>T (n.14497-7C>T)
c.14494-7C>T (n.14494-7C>T)
c.14479-7C>T (n.14479-7C>T)
c.14509-7C>T (n.14509-7C>T)
c.14425-7C>T (n.14425-7C>T)
 gnomAD v4
19g.38580365C=CA2335092438RYR1c.1448-5C=
c.2845-5C=
c.2817-5C=
c.14512-5C= (n.14512-5C=)
c.14497-5C= (n.14497-5C=)
c.14494-5C= (n.14494-5C=)
c.14479-5C= (n.14479-5C=)
c.14509-5C= (n.14509-5C=)
c.14425-5C= (n.14425-5C=)
19g.38580365C>TCA308121905RYR1c.1448-5C>T
c.2845-5C>T
c.2817-5C>T
c.14512-5C>T (n.14512-5C>T)
c.14497-5C>T (n.14497-5C>T)
c.14494-5C>T (n.14494-5C>T)
c.14479-5C>T (n.14479-5C>T)
c.14509-5C>T (n.14509-5C>T)
c.14425-5C>T (n.14425-5C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38580367C>ACA2584911170RYR1c.1448-3C>A
c.2845-3C>A
c.2817-3C>A
c.14512-3C>A (n.14512-3C>A)
c.14497-3C>A (n.14497-3C>A)
c.14494-3C>A (n.14494-3C>A)
c.14479-3C>A (n.14479-3C>A)
c.14509-3C>A (n.14509-3C>A)
c.14425-3C>A (n.14425-3C>A)
 gnomAD v4
19g.38580368A>CCA405687532RYR1c.1448-2A>C
c.2845-2A>C
c.2817-2A>C
c.14512-2A>C (n.14512-2A>C)
c.14497-2A>C (n.14497-2A>C)
c.14494-2A>C (n.14494-2A>C)
c.14479-2A>C (n.14479-2A>C)
c.14509-2A>C (n.14509-2A>C)
c.14425-2A>C (n.14425-2A>C)
19g.38580368A>GCA405687536RYR1c.1448-2A>G
c.2845-2A>G
c.2817-2A>G
c.14512-2A>G (n.14512-2A>G)
c.14497-2A>G (n.14497-2A>G)
c.14494-2A>G (n.14494-2A>G)
c.14479-2A>G (n.14479-2A>G)
c.14509-2A>G (n.14509-2A>G)
c.14425-2A>G (n.14425-2A>G)
19g.38580368A>TCA405687539RYR1c.1448-2A>T
c.2845-2A>T
c.2817-2A>T
c.14512-2A>T (n.14512-2A>T)
c.14497-2A>T (n.14497-2A>T)
c.14494-2A>T (n.14494-2A>T)
c.14479-2A>T (n.14479-2A>T)
c.14509-2A>T (n.14509-2A>T)
c.14425-2A>T (n.14425-2A>T)
19g.38580369G>ACA113770RYR1c.1448-1G>A
c.2845-1G>A
c.2817-1G>A
c.14512-1G>A (n.14512-1G>A)
c.14497-1G>A (n.14497-1G>A)
c.14494-1G>A (n.14494-1G>A)
c.14479-1G>A (n.14479-1G>A)
c.14509-1G>A (n.14509-1G>A)
c.14425-1G>A (n.14425-1G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38580369G>CCA405687542RYR1c.1448-1G>C
c.2845-1G>C
c.2817-1G>C
c.14512-1G>C (n.14512-1G>C)
c.14497-1G>C (n.14497-1G>C)
c.14494-1G>C (n.14494-1G>C)
c.14479-1G>C (n.14479-1G>C)
c.14509-1G>C (n.14509-1G>C)
c.14425-1G>C (n.14425-1G>C)
19g.38580369G=CA2335092439RYR1c.1448-1G=
c.2845-1G=
c.2817-1G=
c.14512-1G= (n.14512-1G=)
c.14497-1G= (n.14497-1G=)
c.14494-1G= (n.14494-1G=)
c.14479-1G= (n.14479-1G=)
c.14509-1G= (n.14509-1G=)
c.14425-1G= (n.14425-1G=)
19g.38580369G>TCA405687544RYR1c.1448-1G>T
c.2845-1G>T
c.2817-1G>T
c.14512-1G>T (n.14512-1G>T)
c.14497-1G>T (n.14497-1G>T)
c.14494-1G>T (n.14494-1G>T)
c.14479-1G>T (n.14479-1G>T)
c.14509-1G>T (n.14509-1G>T)
c.14425-1G>T (n.14425-1G>T)
19g.38580370C>ACA405687546RYR1c.1448C>A
c.2845C>A
c.2817C>A
c.14512C>A (p.Leu4838Met)
c.14497C>A (p.Leu4833Met)
c.14494C>A (p.Leu4832Met)
c.14479C>A (p.Leu4827Met)
c.14509C>A (p.Leu4837Met)
c.14425C>A (p.Leu4809Met)
19g.38580370C=CA2335092440RYR1c.1448C=
c.2845C=
c.2817C=
c.14512C= (p.Leu4838=)
c.14497C= (p.Leu4833=)
c.14494C= (p.Leu4832=)
c.14479C= (p.Leu4827=)
c.14509C= (p.Leu4837=)
c.14425C= (p.Leu4809=)
19g.38580370C>GCA024163RYR1c.1448C>G
c.2845C>G
c.2817C>G
c.14512C>G (p.Leu4838Val)
c.14497C>G (p.Leu4833Val)
c.14494C>G (p.Leu4832Val)
c.14479C>G (p.Leu4827Val)
c.14509C>G (p.Leu4837Val)
c.14425C>G (p.Leu4809Val)
 ClinVar dbSNP
19g.38580370C>TCA507356005RYR1c.1448C>T
c.2845C>T
c.2817C>T
c.14512C>T (p.Leu4838=)
c.14497C>T (p.Leu4833=)
c.14494C>T (p.Leu4832=)
c.14479C>T (p.Leu4827=)
c.14509C>T (p.Leu4837=)
c.14425C>T (p.Leu4809=)
19g.38580371T>ACA405687554RYR1c.1449T>A
c.2846T>A
c.2818T>A
c.14513T>A (p.Leu4838Gln)
c.14498T>A (p.Leu4833Gln)
c.14495T>A (p.Leu4832Gln)
c.14480T>A (p.Leu4827Gln)
c.14510T>A (p.Leu4837Gln)
c.14426T>A (p.Leu4809Gln)
19g.38580371T>CCA405687550RYR1c.1449T>C
c.2846T>C
c.2818T>C
c.14513T>C (p.Leu4838Pro)
c.14498T>C (p.Leu4833Pro)
c.14495T>C (p.Leu4832Pro)
c.14480T>C (p.Leu4827Pro)
c.14510T>C (p.Leu4837Pro)
c.14426T>C (p.Leu4809Pro)
19g.38580371T>GCA405687552RYR1c.1449T>G
c.2846T>G
c.2818T>G
c.14513T>G (p.Leu4838Arg)
c.14498T>G (p.Leu4833Arg)
c.14495T>G (p.Leu4832Arg)
c.14480T>G (p.Leu4827Arg)
c.14510T>G (p.Leu4837Arg)
c.14426T>G (p.Leu4809Arg)
19g.38580372G>ACA507356007RYR1c.1450G>A
c.2847G>A
c.2819G>A
c.14514G>A (p.Leu4838=)
c.14499G>A (p.Leu4833=)
c.14496G>A (p.Leu4832=)
c.14481G>A (p.Leu4827=)
c.14511G>A (p.Leu4837=)
c.14427G>A (p.Leu4809=)
 dbSNP gnomAD v4
19g.38580372G>CCA507356008RYR1c.1450G>C
c.2847G>C
c.2819G>C
c.14514G>C (p.Leu4838=)
c.14499G>C (p.Leu4833=)
c.14496G>C (p.Leu4832=)
c.14481G>C (p.Leu4827=)
c.14511G>C (p.Leu4837=)
c.14427G>C (p.Leu4809=)
 dbSNP
19g.38580372G=CA2335092441RYR1c.1450G=
c.2847G=
c.2819G=
c.14514G= (p.Leu4838=)
c.14499G= (p.Leu4833=)
c.14496G= (p.Leu4832=)
c.14481G= (p.Leu4827=)
c.14511G= (p.Leu4837=)
c.14427G= (p.Leu4809=)
19g.38580372G>TCA507356009RYR1c.1450G>T
c.2847G>T
c.2819G>T
c.14514G>T (p.Leu4838=)
c.14499G>T (p.Leu4833=)
c.14496G>T (p.Leu4832=)
c.14481G>T (p.Leu4827=)
c.14511G>T (p.Leu4837=)
c.14427G>T (p.Leu4809=)
19g.38580373G>ACA405687555RYR1c.1451G>A
c.2848G>A
c.2820G>A
c.14515G>A (p.Val4839Met)
c.14500G>A (p.Val4834Met)
c.14497G>A (p.Val4833Met)
c.14482G>A (p.Val4828Met)
c.14512G>A (p.Val4838Met)
c.14428G>A (p.Val4810Met)
19g.38580373G>CCA405687557RYR1c.1451G>C
c.2848G>C
c.2820G>C
c.14515G>C (p.Val4839Leu)
c.14500G>C (p.Val4834Leu)
c.14497G>C (p.Val4833Leu)
c.14482G>C (p.Val4828Leu)
c.14512G>C (p.Val4838Leu)
c.14428G>C (p.Val4810Leu)
 ClinVar dbSNP
19g.38580373G=CA2335092442RYR1c.1451G=
c.2848G=
c.2820G=
c.14515G= (p.Val4839=)
c.14500G= (p.Val4834=)
c.14497G= (p.Val4833=)
c.14482G= (p.Val4828=)
c.14512G= (p.Val4838=)
c.14428G= (p.Val4810=)
19g.38580373G>TCA405687559RYR1c.1451G>T
c.2848G>T
c.2820G>T
c.14515G>T (p.Val4839Leu)
c.14500G>T (p.Val4834Leu)
c.14497G>T (p.Val4833Leu)
c.14482G>T (p.Val4828Leu)
c.14512G>T (p.Val4838Leu)
c.14428G>T (p.Val4810Leu)
 dbSNP
19g.38580374T>ACA405687563RYR1c.1452T>A
c.2849T>A
c.2821T>A
c.14516T>A (p.Val4839Glu)
c.14501T>A (p.Val4834Glu)
c.14498T>A (p.Val4833Glu)
c.14483T>A (p.Val4828Glu)
c.14513T>A (p.Val4838Glu)
c.14429T>A (p.Val4810Glu)
19g.38580374T>CCA405687565RYR1c.1452T>C
c.2849T>C
c.2821T>C
c.14516T>C (p.Val4839Ala)
c.14501T>C (p.Val4834Ala)
c.14498T>C (p.Val4833Ala)
c.14483T>C (p.Val4828Ala)
c.14513T>C (p.Val4838Ala)
c.14429T>C (p.Val4810Ala)
19g.38580374T>GCA405687566RYR1c.1452T>G
c.2849T>G
c.2821T>G
c.14516T>G (p.Val4839Gly)
c.14501T>G (p.Val4834Gly)
c.14498T>G (p.Val4833Gly)
c.14483T>G (p.Val4828Gly)
c.14513T>G (p.Val4838Gly)
c.14429T>G (p.Val4810Gly)
19g.38580375G>ACA081242RYR1c.1453G>A
c.2850G>A
c.2822G>A
c.14517G>A (p.Val4839=)
c.14502G>A (p.Val4834=)
c.14499G>A (p.Val4833=)
c.14484G>A (p.Val4828=)
c.14514G>A (p.Val4838=)
c.14430G>A (p.Val4810=)
19g.38580375G>CCA507356014RYR1c.1453G>C
c.2850G>C
c.2822G>C
c.14517G>C (p.Val4839=)
c.14502G>C (p.Val4834=)
c.14499G>C (p.Val4833=)
c.14484G>C (p.Val4828=)
c.14514G>C (p.Val4838=)
c.14430G>C (p.Val4810=)
19g.38580375G>TCA507356016RYR1c.1453G>T
c.2850G>T
c.2822G>T
c.14517G>T (p.Val4839=)
c.14502G>T (p.Val4834=)
c.14499G>T (p.Val4833=)
c.14484G>T (p.Val4828=)
c.14514G>T (p.Val4838=)
c.14430G>T (p.Val4810=)
19g.38580376A=CA2335092443RYR1c.1454A=
c.2851A=
c.2823A=
c.14518A= (p.Met4840=)
c.14503A= (p.Met4835=)
c.14500A= (p.Met4834=)
c.14485A= (p.Met4829=)
c.14515A= (p.Met4839=)
c.14431A= (p.Met4811=)
19g.38580376A>CCA405687567RYR1c.1454A>C
c.2851A>C
c.2823A>C
c.14518A>C (p.Met4840Leu)
c.14503A>C (p.Met4835Leu)
c.14500A>C (p.Met4834Leu)
c.14485A>C (p.Met4829Leu)
c.14515A>C (p.Met4839Leu)
c.14431A>C (p.Met4811Leu)
19g.38580376A>GCA405687568RYR1c.1454A>G
c.2851A>G
c.2823A>G
c.14518A>G (p.Met4840Val)
c.14503A>G (p.Met4835Val)
c.14500A>G (p.Met4834Val)
c.14485A>G (p.Met4829Val)
c.14515A>G (p.Met4839Val)
c.14431A>G (p.Met4811Val)
19g.38580376A>TCA308121922RYR1c.1454A>T
c.2851A>T
c.2823A>T
c.14518A>T (p.Met4840Leu)
c.14503A>T (p.Met4835Leu)
c.14500A>T (p.Met4834Leu)
c.14485A>T (p.Met4829Leu)
c.14515A>T (p.Met4839Leu)
c.14431A>T (p.Met4811Leu)
 ClinVar dbSNP gnomAD v4
19g.38580377T>ACA405687571RYR1c.1455T>A
c.2852T>A
c.2824T>A
c.14519T>A (p.Met4840Lys)
c.14504T>A (p.Met4835Lys)
c.14501T>A (p.Met4834Lys)
c.14486T>A (p.Met4829Lys)
c.14516T>A (p.Met4839Lys)
c.14432T>A (p.Met4811Lys)
19g.38580377T>CCA405687572RYR1c.1455T>C
c.2852T>C
c.2824T>C
c.14519T>C (p.Met4840Thr)
c.14504T>C (p.Met4835Thr)
c.14501T>C (p.Met4834Thr)
c.14486T>C (p.Met4829Thr)
c.14516T>C (p.Met4839Thr)
c.14432T>C (p.Met4811Thr)
19g.38580377T>GCA405687574RYR1c.1455T>G
c.2852T>G
c.2824T>G
c.14519T>G (p.Met4840Arg)
c.14504T>G (p.Met4835Arg)
c.14501T>G (p.Met4834Arg)
c.14486T>G (p.Met4829Arg)
c.14516T>G (p.Met4839Arg)
c.14432T>G (p.Met4811Arg)
 ClinVar dbSNP
19g.38580377T=CA2335092444RYR1c.1455T=
c.2852T=
c.2824T=
c.14519T= (p.Met4840=)
c.14504T= (p.Met4835=)
c.14501T= (p.Met4834=)
c.14486T= (p.Met4829=)
c.14516T= (p.Met4839=)
c.14432T= (p.Met4811=)
19g.38580378G>ACA405687579RYR1c.1456G>A
c.2853G>A
c.2825G>A
c.14520G>A (p.Met4840Ile)
c.14505G>A (p.Met4835Ile)
c.14502G>A (p.Met4834Ile)
c.14487G>A (p.Met4829Ile)
c.14517G>A (p.Met4839Ile)
c.14433G>A (p.Met4811Ile)
19g.38580378G>CCA405687578RYR1c.1456G>C
c.2853G>C
c.2825G>C
c.14520G>C (p.Met4840Ile)
c.14505G>C (p.Met4835Ile)
c.14502G>C (p.Met4834Ile)
c.14487G>C (p.Met4829Ile)
c.14517G>C (p.Met4839Ile)
c.14433G>C (p.Met4811Ile)
19g.38580378G=CA2335092445RYR1c.1456G=
c.2853G=
c.2825G=
c.14520G= (p.Met4840=)
c.14505G= (p.Met4835=)
c.14502G= (p.Met4834=)
c.14487G= (p.Met4829=)
c.14517G= (p.Met4839=)
c.14433G= (p.Met4811=)
19g.38580378G>TCA405687576RYR1c.1456G>T
c.2853G>T
c.2825G>T
c.14520G>T (p.Met4840Ile)
c.14505G>T (p.Met4835Ile)
c.14502G>T (p.Met4834Ile)
c.14487G>T (p.Met4829Ile)
c.14517G>T (p.Met4839Ile)
c.14433G>T (p.Met4811Ile)
 gnomAD v4
19g.38580379A>CCA405687580RYR1c.1457A>C
c.2854A>C
c.2826A>C
c.14521A>C (p.Thr4841Pro)
c.14506A>C (p.Thr4836Pro)
c.14503A>C (p.Thr4835Pro)
c.14488A>C (p.Thr4830Pro)
c.14518A>C (p.Thr4840Pro)
c.14434A>C (p.Thr4812Pro)
19g.38580379A>GCA405687581RYR1c.1457A>G
c.2854A>G
c.2826A>G
c.14521A>G (p.Thr4841Ala)
c.14506A>G (p.Thr4836Ala)
c.14503A>G (p.Thr4835Ala)
c.14488A>G (p.Thr4830Ala)
c.14518A>G (p.Thr4840Ala)
c.14434A>G (p.Thr4812Ala)
19g.38580379A>TCA405687583RYR1c.1457A>T
c.2854A>T
c.2826A>T
c.14521A>T (p.Thr4841Ser)
c.14506A>T (p.Thr4836Ser)
c.14503A>T (p.Thr4835Ser)
c.14488A>T (p.Thr4830Ser)
c.14518A>T (p.Thr4840Ser)
c.14434A>T (p.Thr4812Ser)

Number of alleles fetched