Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38517496C>ACA405692169RYR1c.9762C>A (n.9762C>A)
c.9823C>A (p.Pro3275Thr)
c.9820C>A (p.Pro3274Thr)
c.3225C>A
c.630C>A
 dbSNP gnomAD v4
19g.38517496C=CA2335062053RYR1c.9762C= (n.9762C=)
c.9823C= (p.Pro3275=)
c.9820C= (p.Pro3274=)
c.3225C=
c.630C=
19g.38517496C>GCA405692170RYR1c.9762C>G (n.9762C>G)
c.9823C>G (p.Pro3275Ala)
c.9820C>G (p.Pro3274Ala)
c.3225C>G
c.630C>G
19g.38517496C>TCA405692173RYR1c.9762C>T (n.9762C>T)
c.9823C>T (p.Pro3275Ser)
c.9820C>T (p.Pro3274Ser)
c.3225C>T
c.630C>T
19g.38517497C>ACA405692174RYR1c.9763C>A (n.9763C>A)
c.9824C>A (p.Pro3275His)
c.9821C>A (p.Pro3274His)
c.3226C>A
c.631C>A
19g.38517497C>GCA405692176RYR1c.9763C>G (n.9763C>G)
c.9824C>G (p.Pro3275Arg)
c.9821C>G (p.Pro3274Arg)
c.3226C>G
c.631C>G
19g.38517497C>TCA405692177RYR1c.9763C>T (n.9763C>T)
c.9824C>T (p.Pro3275Leu)
c.9821C>T (p.Pro3274Leu)
c.3226C>T
c.631C>T
19g.38517497_38517503delCA2584904072RYR1c.9763_9769del (n.9763_9769del)
c.9824_9830del (p.Pro3275HisfsTer?)
c.9821_9827del (p.Pro3274HisfsTer?)
c.3226_3232del
c.631_637del
 gnomAD v4
19g.38517498C>ACA507247179RYR1c.9764C>A (n.9764C>A)
c.9825C>A (p.Pro3275=)
c.9822C>A (p.Pro3274=)
c.3227C>A
c.632C>A
19g.38517498C=CA2335062054RYR1c.9764C= (n.9764C=)
c.9825C= (p.Pro3275=)
c.9822C= (p.Pro3274=)
c.3227C=
c.632C=
19g.38517498C>GCA507247183RYR1c.9764C>G (n.9764C>G)
c.9825C>G (p.Pro3275=)
c.9822C>G (p.Pro3274=)
c.3227C>G
c.632C>G
19g.38517498C>TCA074199RYR1c.9764C>T (n.9764C>T)
c.9825C>T (p.Pro3275=)
c.9822C>T (p.Pro3274=)
c.3227C>T
c.632C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38517499A=CA2335062055RYR1c.9765A= (n.9765A=)
c.9826A= (p.Met3276=)
c.9823A= (p.Met3275=)
c.3228A=
c.633A=
19g.38517499A>CCA405692187RYR1c.9765A>C (n.9765A>C)
c.9826A>C (p.Met3276Leu)
c.9823A>C (p.Met3275Leu)
c.3228A>C
c.633A>C
19g.38517499A>GCA405692185RYR1c.9765A>G (n.9765A>G)
c.9826A>G (p.Met3276Val)
c.9823A>G (p.Met3275Val)
c.3228A>G
c.633A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38517499A>TCA405692183RYR1c.9765A>T (n.9765A>T)
c.9826A>T (p.Met3276Leu)
c.9823A>T (p.Met3275Leu)
c.3228A>T
c.633A>T
19g.38517500T>ACA405692193RYR1c.9766T>A (n.9766T>A)
c.9827T>A (p.Met3276Lys)
c.9824T>A (p.Met3275Lys)
c.3229T>A
c.634T>A
19g.38517500T>CCA405692194RYR1c.9766T>C (n.9766T>C)
c.9827T>C (p.Met3276Thr)
c.9824T>C (p.Met3275Thr)
c.3229T>C
c.634T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38517500T>GCA405692198RYR1c.9766T>G (n.9766T>G)
c.9827T>G (p.Met3276Arg)
c.9824T>G (p.Met3275Arg)
c.3229T>G
c.634T>G
19g.38517500T=CA2335062056RYR1c.9766T= (n.9766T=)
c.9827T= (p.Met3276=)
c.9824T= (p.Met3275=)
c.3229T=
c.634T=
19g.38517500dupCA2580097190RYR1c.9766dup (n.9766dup)
c.9827dup (p.Met3276IlefsTer?)
c.9824dup (p.Met3275IlefsTer?)
c.3229dup
c.634dup
 ClinVar
19g.38517501G>ACA405692200RYR1c.9767G>A (n.9767G>A)
c.9828G>A (p.Met3276Ile)
c.9825G>A (p.Met3275Ile)
c.3230G>A
c.635G>A
19g.38517501G>CCA074204RYR1c.9767G>C (n.9767G>C)
c.9828G>C (p.Met3276Ile)
c.9825G>C (p.Met3275Ile)
c.3230G>C
c.635G>C
 dbSNP ExAC gnomAD v2
19g.38517501G=CA2335062057RYR1c.9767G= (n.9767G=)
c.9828G= (p.Met3276=)
c.9825G= (p.Met3275=)
c.3230G=
c.635G=
19g.38517501G>TCA405692203RYR1c.9767G>T (n.9767G>T)
c.9828G>T (p.Met3276Ile)
c.9825G>T (p.Met3275Ile)
c.3230G>T
c.635G>T
19g.38517502C>ACA405692207RYR1c.9768C>A (n.9768C>A)
c.9829C>A (p.Leu3277Ile)
c.9826C>A (p.Leu3276Ile)
c.3231C>A
c.636C>A
19g.38517502C>GCA405692209RYR1c.9768C>G (n.9768C>G)
c.9829C>G (p.Leu3277Val)
c.9826C>G (p.Leu3276Val)
c.3231C>G
c.636C>G
19g.38517502C>TCA507247189RYR1c.9768C>T (n.9768C>T)
c.9829C>T (p.Leu3277=)
c.9826C>T (p.Leu3276=)
c.3231C>T
c.636C>T
 gnomAD v4
19g.38517503T>ACA405692217RYR1c.9769T>A (n.9769T>A)
c.9830T>A (p.Leu3277Gln)
c.9827T>A (p.Leu3276Gln)
c.3232T>A
c.637T>A
 ClinVar dbSNP
19g.38517503T>CCA405692218RYR1c.9769T>C (n.9769T>C)
c.9830T>C (p.Leu3277Pro)
c.9827T>C (p.Leu3276Pro)
c.3232T>C
c.637T>C
19g.38517503T>GCA405692220RYR1c.9769T>G (n.9769T>G)
c.9830T>G (p.Leu3277Arg)
c.9827T>G (p.Leu3276Arg)
c.3232T>G
c.637T>G
19g.38517503T=CA2335062058RYR1c.9769T= (n.9769T=)
c.9830T= (p.Leu3277=)
c.9827T= (p.Leu3276=)
c.3232T=
c.637T=
19g.38517503_38517506dupCA2584904073RYR1c.9769_9772dup (n.9769_9772dup)
c.9830_9833dup (p.Ser3279MetfsTer?)
c.9827_9830dup (p.Ser3278MetfsTer?)
c.3232_3235dup
c.637_640dup
 gnomAD v4
19g.38517504A=CA2335062059RYR1c.9770A= (n.9770A=)
c.9831A= (p.Leu3277=)
c.9828A= (p.Leu3276=)
c.3233A=
c.638A=
19g.38517504A>CCA507247191RYR1c.9770A>C (n.9770A>C)
c.9831A>C (p.Leu3277=)
c.9828A>C (p.Leu3276=)
c.3233A>C
c.638A>C
19g.38517504A>GCA507247193RYR1c.9770A>G (n.9770A>G)
c.9831A>G (p.Leu3277=)
c.9828A>G (p.Leu3276=)
c.3233A>G
c.638A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38517504A>TCA507247195RYR1c.9770A>T (n.9770A>T)
c.9831A>T (p.Leu3277=)
c.9828A>T (p.Leu3276=)
c.3233A>T
c.638A>T
19g.38517505T>ACA405692222RYR1c.9771T>A (n.9771T>A)
c.9832T>A (p.Cys3278Ser)
c.9829T>A (p.Cys3277Ser)
c.3234T>A
c.639T>A
19g.38517505T>CCA405692224RYR1c.9771T>C (n.9771T>C)
c.9832T>C (p.Cys3278Arg)
c.9829T>C (p.Cys3277Arg)
c.3234T>C
c.639T>C
19g.38517505T>GCA405692225RYR1c.9771T>G (n.9771T>G)
c.9832T>G (p.Cys3278Gly)
c.9829T>G (p.Cys3277Gly)
c.3234T>G
c.639T>G
19g.38517506G>ACA405692232RYR1c.9772G>A (n.9772G>A)
c.9833G>A (p.Cys3278Tyr)
c.9830G>A (p.Cys3277Tyr)
c.3235G>A
c.640G>A
 ClinVar
19g.38517506G>CCA405692229RYR1c.9772G>C (n.9772G>C)
c.9833G>C (p.Cys3278Ser)
c.9830G>C (p.Cys3277Ser)
c.3235G>C
c.640G>C
19g.38517506G>TCA405692227RYR1c.9772G>T (n.9772G>T)
c.9833G>T (p.Cys3278Phe)
c.9830G>T (p.Cys3277Phe)
c.3235G>T
c.640G>T
19g.38517507C>ACA405692247RYR1c.9773C>A (n.9773C>A)
c.9834C>A (p.Cys3278Ter)
c.9831C>A (p.Cys3277Ter)
c.3236C>A
c.641C>A
19g.38517507C=CA2335062060RYR1c.9773C= (n.9773C=)
c.9834C= (p.Cys3278=)
c.9831C= (p.Cys3277=)
c.3236C=
c.641C=
19g.38517507C>GCA405692252RYR1c.9773C>G (n.9773C>G)
c.9834C>G (p.Cys3278Trp)
c.9831C>G (p.Cys3277Trp)
c.3236C>G
c.641C>G
19g.38517507C>TCA074214RYR1c.9773C>T (n.9773C>T)
c.9834C>T (p.Cys3278=)
c.9831C>T (p.Cys3277=)
c.3236C>T
c.641C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38517508A>CCA405692258RYR1c.9774A>C (n.9774A>C)
c.9835A>C (p.Ser3279Arg)
c.9832A>C (p.Ser3278Arg)
c.3237A>C
c.642A>C
19g.38517508A>GCA405692264RYR1c.9774A>G (n.9774A>G)
c.9835A>G (p.Ser3279Gly)
c.9832A>G (p.Ser3278Gly)
c.3237A>G
c.642A>G
19g.38517508A>TCA405692265RYR1c.9774A>T (n.9774A>T)
c.9835A>T (p.Ser3279Cys)
c.9832A>T (p.Ser3278Cys)
c.3237A>T
c.642A>T
19g.38517509G>ACA405692287RYR1c.9775G>A (n.9775G>A)
c.9836G>A (p.Ser3279Asn)
c.9833G>A (p.Ser3278Asn)
c.3238G>A
c.643G>A
19g.38517509G>CCA405692269RYR1c.9775G>C (n.9775G>C)
c.9836G>C (p.Ser3279Thr)
c.9833G>C (p.Ser3278Thr)
c.3238G>C
c.643G>C
19g.38517509G>TCA405692284RYR1c.9775G>T (n.9775G>T)
c.9836G>T (p.Ser3279Ile)
c.9833G>T (p.Ser3278Ile)
c.3238G>T
c.643G>T
19g.38517510C>ACA405692289RYR1c.9776C>A (n.9776C>A)
c.9837C>A (p.Ser3279Arg)
c.9834C>A (p.Ser3278Arg)
c.3239C>A
c.644C>A
 gnomAD v4
19g.38517510C>GCA405692290RYR1c.9776C>G (n.9776C>G)
c.9837C>G (p.Ser3279Arg)
c.9834C>G (p.Ser3278Arg)
c.3239C>G
c.644C>G
19g.38517510C>TCA084915RYR1c.9776C>T (n.9776C>T)
c.9837C>T (p.Ser3279=)
c.9834C>T (p.Ser3278=)
c.3239C>T
c.644C>T
19g.38517511T>ACA405692291RYR1c.9777T>A (n.9777T>A)
c.9838T>A (p.Tyr3280Asn)
c.9835T>A (p.Tyr3279Asn)
c.3240T>A
c.645T>A
19g.38517511T>CCA405692292RYR1c.9777T>C (n.9777T>C)
c.9838T>C (p.Tyr3280His)
c.9835T>C (p.Tyr3279His)
c.3240T>C
c.645T>C
19g.38517511T>GCA405692293RYR1c.9777T>G (n.9777T>G)
c.9838T>G (p.Tyr3280Asp)
c.9835T>G (p.Tyr3279Asp)
c.3240T>G
c.645T>G
19g.38517512A=CA2335062061RYR1c.9778A= (n.9778A=)
c.9839A= (p.Tyr3280=)
c.9836A= (p.Tyr3279=)
c.3241A=
c.646A=
19g.38517512A>CCA405692294RYR1c.9778A>C (n.9778A>C)
c.9839A>C (p.Tyr3280Ser)
c.9836A>C (p.Tyr3279Ser)
c.3241A>C
c.646A>C
 dbSNP
19g.38517512A>GCA405692298RYR1c.9778A>G (n.9778A>G)
c.9839A>G (p.Tyr3280Cys)
c.9836A>G (p.Tyr3279Cys)
c.3241A>G
c.646A>G
19g.38517512A>TCA405692295RYR1c.9778A>T (n.9778A>T)
c.9839A>T (p.Tyr3280Phe)
c.9836A>T (p.Tyr3279Phe)
c.3241A>T
c.646A>T
19g.38517513C>ACA405692301RYR1c.9779C>A (n.9779C>A)
c.9840C>A (p.Tyr3280Ter)
c.9837C>A (p.Tyr3279Ter)
c.3242C>A
c.647C>A
19g.38517513C=CA2335062062RYR1c.9779C= (n.9779C=)
c.9840C= (p.Tyr3280=)
c.9837C= (p.Tyr3279=)
c.3242C=
c.647C=
19g.38517513C>GCA405692304RYR1c.9779C>G (n.9779C>G)
c.9840C>G (p.Tyr3280Ter)
c.9837C>G (p.Tyr3279Ter)
c.3242C>G
c.647C>G
19g.38517513C>TCA507247203RYR1c.9779C>T (n.9779C>T)
c.9840C>T (p.Tyr3280=)
c.9837C>T (p.Tyr3279=)
c.3242C>T
c.647C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38517514C>ACA405692306RYR1c.9780C>A (n.9780C>A)
c.9841C>A (p.Leu3281Met)
c.9838C>A (p.Leu3280Met)
c.3243C>A
c.648C>A
19g.38517514C>GCA405692310RYR1c.9780C>G (n.9780C>G)
c.9841C>G (p.Leu3281Val)
c.9838C>G (p.Leu3280Val)
c.3243C>G
c.648C>G
19g.38517514C>TCA507247206RYR1c.9780C>T (n.9780C>T)
c.9841C>T (p.Leu3281=)
c.9838C>T (p.Leu3280=)
c.3243C>T
c.648C>T
19g.38517515T>ACA405692313RYR1c.9781T>A (n.9781T>A)
c.9842T>A (p.Leu3281Gln)
c.9839T>A (p.Leu3280Gln)
c.3244T>A
c.649T>A
19g.38517515T>CCA405692314RYR1c.9781T>C (n.9781T>C)
c.9842T>C (p.Leu3281Pro)
c.9839T>C (p.Leu3280Pro)
c.3244T>C
c.649T>C
19g.38517515T>GCA405692315RYR1c.9781T>G (n.9781T>G)
c.9842T>G (p.Leu3281Arg)
c.9839T>G (p.Leu3280Arg)
c.3244T>G
c.649T>G
19g.38517516G>ACA507247209RYR1c.9782G>A (n.9782G>A)
c.9843G>A (p.Leu3281=)
c.9840G>A (p.Leu3280=)
c.3245G>A
c.650G>A
 dbSNP
19g.38517516G>CCA507247207RYR1c.9782G>C (n.9782G>C)
c.9843G>C (p.Leu3281=)
c.9840G>C (p.Leu3280=)
c.3245G>C
c.650G>C
19g.38517516G=CA2335062063RYR1c.9782G= (n.9782G=)
c.9843G= (p.Leu3281=)
c.9840G= (p.Leu3280=)
c.3245G=
c.650G=
19g.38517516G>TCA308129824RYR1c.9782G>T (n.9782G>T)
c.9843G>T (p.Leu3281=)
c.9840G>T (p.Leu3280=)
c.3245G>T
c.650G>T
 dbSNP
19g.38517517C>ACA405692316RYR1c.9783C>A (n.9783C>A)
c.9844C>A (p.Pro3282Thr)
c.9841C>A (p.Pro3281Thr)
c.3246C>A
c.651C>A
19g.38517517C>GCA405692317RYR1c.9783C>G (n.9783C>G)
c.9844C>G (p.Pro3282Ala)
c.9841C>G (p.Pro3281Ala)
c.3246C>G
c.651C>G
19g.38517517C>TCA405692318RYR1c.9783C>T (n.9783C>T)
c.9844C>T (p.Pro3282Ser)
c.9841C>T (p.Pro3281Ser)
c.3246C>T
c.651C>T
 gnomAD v4
19g.38517518C>ACA405692320RYR1c.9784C>A (n.9784C>A)
c.9845C>A (p.Pro3282His)
c.9842C>A (p.Pro3281His)
c.3247C>A
c.652C>A
 COSMIC
19g.38517518C>GCA405692323RYR1c.9784C>G (n.9784C>G)
c.9845C>G (p.Pro3282Arg)
c.9842C>G (p.Pro3281Arg)
c.3247C>G
c.652C>G
 gnomAD v4
19g.38517518C>TCA405692321RYR1c.9784C>T (n.9784C>T)
c.9845C>T (p.Pro3282Leu)
c.9842C>T (p.Pro3281Leu)
c.3247C>T
c.652C>T
19g.38517519C>ACA507247212RYR1c.9785C>A (n.9785C>A)
c.9846C>A (p.Pro3282=)
c.9843C>A (p.Pro3281=)
c.3248C>A
c.653C>A
19g.38517519C=CA2335062064RYR1c.9785C= (n.9785C=)
c.9846C= (p.Pro3282=)
c.9843C= (p.Pro3281=)
c.3248C=
c.653C=
19g.38517519C>GCA507247211RYR1c.9785C>G (n.9785C>G)
c.9846C>G (p.Pro3282=)
c.9843C>G (p.Pro3281=)
c.3248C>G
c.653C>G
19g.38517519C>TCA10651872RYR1c.9785C>T (n.9785C>T)
c.9846C>T (p.Pro3282=)
c.9843C>T (p.Pro3281=)
c.3248C>T
c.653C>T
 ClinVar dbSNP
19g.38517520C>ACA507247213RYR1c.9786C>A (n.9786C>A)
c.9847C>A (p.Arg3283=)
c.9844C>A (p.Arg3282=)
c.3249C>A
c.654C>A
 dbSNP gnomAD v3 gnomAD v4
19g.38517520C=CA2335062065RYR1c.9786C= (n.9786C=)
c.9847C= (p.Arg3283=)
c.9844C= (p.Arg3282=)
c.3249C=
c.654C=
19g.38517520C>GCA405692332RYR1c.9786C>G (n.9786C>G)
c.9847C>G (p.Arg3283Gly)
c.9844C>G (p.Arg3282Gly)
c.3249C>G
c.654C>G
19g.38517520C>TCA074223RYR1c.9786C>T (n.9786C>T)
c.9847C>T (p.Arg3283Ter)
c.9844C>T (p.Arg3282Ter)
c.3249C>T
c.654C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38517521G>ACA074227RYR1c.9787G>A (n.9787G>A)
c.9848G>A (p.Arg3283Gln)
c.9845G>A (p.Arg3282Gln)
c.3250G>A
c.655G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38517521G>CCA405692339RYR1c.9787G>C (n.9787G>C)
c.9848G>C (p.Arg3283Pro)
c.9845G>C (p.Arg3282Pro)
c.3250G>C
c.655G>C
19g.38517521G=CA2335062066RYR1c.9787G= (n.9787G=)
c.9848G= (p.Arg3283=)
c.9845G= (p.Arg3282=)
c.3250G=
c.655G=
19g.38517521G>TCA405692340RYR1c.9787G>T (n.9787G>T)
c.9848G>T (p.Arg3283Leu)
c.9845G>T (p.Arg3282Leu)
c.3250G>T
c.655G>T
19g.38517522A>CCA507247221RYR1c.9788A>C (n.9788A>C)
c.9849A>C (p.Arg3283=)
c.9846A>C (p.Arg3282=)
c.3251A>C
c.656A>C
19g.38517522A>GCA507247222RYR1c.9788A>G (n.9788A>G)
c.9849A>G (p.Arg3283=)
c.9846A>G (p.Arg3282=)
c.3251A>G
c.656A>G
19g.38517522A>TCA507247225RYR1c.9788A>T (n.9788A>T)
c.9849A>T (p.Arg3283=)
c.9846A>T (p.Arg3282=)
c.3251A>T
c.656A>T
19g.38517523T>ACA405692341RYR1c.9789T>A (n.9789T>A)
c.9850T>A (p.Trp3284Arg)
c.9847T>A (p.Trp3283Arg)
c.3252T>A
c.657T>A
 ClinVar dbSNP
19g.38517523T>CCA405692345RYR1c.9789T>C (n.9789T>C)
c.9850T>C (p.Trp3284Arg)
c.9847T>C (p.Trp3283Arg)
c.3252T>C
c.657T>C
 ClinVar dbSNP gnomAD v4
19g.38517523T>GCA405692349RYR1c.9789T>G (n.9789T>G)
c.9850T>G (p.Trp3284Gly)
c.9847T>G (p.Trp3283Gly)
c.3252T>G
c.657T>G
19g.38517523T=CA2335062067RYR1c.9789T= (n.9789T=)
c.9850T= (p.Trp3284=)
c.9847T= (p.Trp3283=)
c.3252T=
c.657T=
19g.38517524G>ACA084920RYR1c.9790G>A (n.9790G>A)
c.9851G>A (p.Trp3284Ter)
c.9848G>A (p.Trp3283Ter)
c.3253G>A
c.658G>A
 ClinVar dbSNP gnomAD v4
19g.38517524G>CCA405692352RYR1c.9790G>C (n.9790G>C)
c.9851G>C (p.Trp3284Ser)
c.9848G>C (p.Trp3283Ser)
c.3253G>C
c.658G>C
19g.38517524G>TCA405692354RYR1c.9790G>T (n.9790G>T)
c.9851G>T (p.Trp3284Leu)
c.9848G>T (p.Trp3283Leu)
c.3253G>T
c.658G>T
19g.38517525G>ACA405692362RYR1c.9791G>A (n.9791G>A)
c.9852G>A (p.Trp3284Ter)
c.9849G>A (p.Trp3283Ter)
c.3254G>A
c.659G>A
 ClinVar
19g.38517525G>CCA405692358RYR1c.9791G>C (n.9791G>C)
c.9852G>C (p.Trp3284Cys)
c.9849G>C (p.Trp3283Cys)
c.3254G>C
c.659G>C
19g.38517525G>TCA405692356RYR1c.9791G>T (n.9791G>T)
c.9852G>T (p.Trp3284Cys)
c.9849G>T (p.Trp3283Cys)
c.3254G>T
c.659G>T
19g.38517526T>ACA405692365RYR1c.9792T>A (n.9792T>A)
c.9853T>A (p.Trp3285Arg)
c.9850T>A (p.Trp3284Arg)
c.3255T>A
c.660T>A
 ClinVar dbSNP
19g.38517526T>CCA405692366RYR1c.9792T>C (n.9792T>C)
c.9853T>C (p.Trp3285Arg)
c.9850T>C (p.Trp3284Arg)
c.3255T>C
c.660T>C
 dbSNP gnomAD v2 gnomAD v4
19g.38517526T>GCA405692370RYR1c.9792T>G (n.9792T>G)
c.9853T>G (p.Trp3285Gly)
c.9850T>G (p.Trp3284Gly)
c.3255T>G
c.660T>G
19g.38517526T=CA2335062068RYR1c.9792T= (n.9792T=)
c.9853T= (p.Trp3285=)
c.9850T= (p.Trp3284=)
c.3255T=
c.660T=
19g.38517527G>ACA405692373RYR1c.9793G>A (n.9793G>A)
c.9854G>A (p.Trp3285Ter)
c.9851G>A (p.Trp3284Ter)
c.3256G>A
c.661G>A
19g.38517527G>CCA405692376RYR1c.9793G>C (n.9793G>C)
c.9854G>C (p.Trp3285Ser)
c.9851G>C (p.Trp3284Ser)
c.3256G>C
c.661G>C
19g.38517527G>TCA405692379RYR1c.9793G>T (n.9793G>T)
c.9854G>T (p.Trp3285Leu)
c.9851G>T (p.Trp3284Leu)
c.3256G>T
c.661G>T
19g.38517528G>ACA405692382RYR1c.9794G>A (n.9794G>A)
c.9855G>A (p.Trp3285Ter)
c.9852G>A (p.Trp3284Ter)
c.3257G>A
c.662G>A
19g.38517528G>CCA405692384RYR1c.9794G>C (n.9794G>C)
c.9855G>C (p.Trp3285Cys)
c.9852G>C (p.Trp3284Cys)
c.3257G>C
c.662G>C
19g.38517528G>TCA405692388RYR1c.9794G>T (n.9794G>T)
c.9855G>T (p.Trp3285Cys)
c.9852G>T (p.Trp3284Cys)
c.3257G>T
c.662G>T
19g.38517529G>ACA405692396RYR1c.9795G>A (n.9795G>A)
c.9856G>A (p.Glu3286Lys)
c.9853G>A (p.Glu3285Lys)
c.3258G>A
c.663G>A
 gnomAD v4
19g.38517529G>CCA405692398RYR1c.9795G>C (n.9795G>C)
c.9856G>C (p.Glu3286Gln)
c.9853G>C (p.Glu3285Gln)
c.3258G>C
c.663G>C
 gnomAD v4
19g.38517529G>TCA405692402RYR1c.9795G>T (n.9795G>T)
c.9856G>T (p.Glu3286Ter)
c.9853G>T (p.Glu3285Ter)
c.3258G>T
c.663G>T
19g.38517530A>CCA405692406RYR1c.9796A>C (n.9796A>C)
c.9857A>C (p.Glu3286Ala)
c.9854A>C (p.Glu3285Ala)
c.3259A>C
c.664A>C
19g.38517530A>GCA405692417RYR1c.9796A>G (n.9796A>G)
c.9857A>G (p.Glu3286Gly)
c.9854A>G (p.Glu3285Gly)
c.3259A>G
c.664A>G
19g.38517530A>TCA405692403RYR1c.9796A>T (n.9796A>T)
c.9857A>T (p.Glu3286Val)
c.9854A>T (p.Glu3285Val)
c.3259A>T
c.664A>T
19g.38517531G>ACA507247236RYR1c.9797G>A (n.9797G>A)
c.9858G>A (p.Glu3286=)
c.9855G>A (p.Glu3285=)
c.3260G>A
c.665G>A
 ClinVar dbSNP gnomAD v4
19g.38517531G>CCA405692420RYR1c.9797G>C (n.9797G>C)
c.9858G>C (p.Glu3286Asp)
c.9855G>C (p.Glu3285Asp)
c.3260G>C
c.665G>C
19g.38517531G>TCA405692422RYR1c.9797G>T (n.9797G>T)
c.9858G>T (p.Glu3286Asp)
c.9855G>T (p.Glu3285Asp)
c.3260G>T
c.665G>T
19g.38517532C>ACA074231RYR1c.9798C>A (n.9798C>A)
c.9859C>A (p.Arg3287Ser)
c.9856C>A (p.Arg3286Ser)
c.3261C>A
c.666C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38517532C=CA2335062069RYR1c.9798C= (n.9798C=)
c.9859C= (p.Arg3287=)
c.9856C= (p.Arg3286=)
c.3261C=
c.666C=
19g.38517532C>GCA405692435RYR1c.9798C>G (n.9798C>G)
c.9859C>G (p.Arg3287Gly)
c.9856C>G (p.Arg3286Gly)
c.3261C>G
c.666C>G
19g.38517532C>TCA074235RYR1c.9798C>T (n.9798C>T)
c.9859C>T (p.Arg3287Cys)
c.9856C>T (p.Arg3286Cys)
c.3261C>T
c.666C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38517533G>ACA074241RYR1c.9799G>A (n.9799G>A)
c.9860G>A (p.Arg3287His)
c.9857G>A (p.Arg3286His)
c.3262G>A
c.667G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.38517533G>CCA405692441RYR1c.9799G>C (n.9799G>C)
c.9860G>C (p.Arg3287Pro)
c.9857G>C (p.Arg3286Pro)
c.3262G>C
c.667G>C
19g.38517533G=CA2335062070RYR1c.9799G= (n.9799G=)
c.9860G= (p.Arg3287=)
c.9857G= (p.Arg3286=)
c.3262G=
c.667G=
19g.38517533G>TCA074245RYR1c.9799G>T (n.9799G>T)
c.9860G>T (p.Arg3287Leu)
c.9857G>T (p.Arg3286Leu)
c.3262G>T
c.667G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38517534C>ACA507247241RYR1c.9800C>A (n.9800C>A)
c.9861C>A (p.Arg3287=)
c.9858C>A (p.Arg3286=)
c.3263C>A
c.668C>A
19g.38517534C=CA2335062071RYR1c.9800C= (n.9800C=)
c.9861C= (p.Arg3287=)
c.9858C= (p.Arg3286=)
c.3263C=
c.668C=
19g.38517534C>GCA507247243RYR1c.9800C>G (n.9800C>G)
c.9861C>G (p.Arg3287=)
c.9858C>G (p.Arg3286=)
c.3263C>G
c.668C>G
19g.38517534C>TCA074250RYR1c.9800C>T (n.9800C>T)
c.9861C>T (p.Arg3287=)
c.9858C>T (p.Arg3286=)
c.3263C>T
c.668C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38517535G>ACA074252RYR1c.9801G>A (n.9801G>A)
c.9862G>A (p.Gly3288Arg)
c.9859G>A (p.Gly3287Arg)
c.3264G>A
c.669G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38517535G>CCA405692453RYR1c.9801G>C (n.9801G>C)
c.9862G>C (p.Gly3288Arg)
c.9859G>C (p.Gly3287Arg)
c.3264G>C
c.669G>C
19g.38517535G=CA2335062072RYR1c.9801G= (n.9801G=)
c.9862G= (p.Gly3288=)
c.9859G= (p.Gly3287=)
c.3264G=
c.669G=
19g.38517535G>TCA405692456RYR1c.9801G>T (n.9801G>T)
c.9862G>T (p.Gly3288Trp)
c.9859G>T (p.Gly3287Trp)
c.3264G>T
c.669G>T
19g.38517536G>ACA084924RYR1c.9802G>A (n.9802G>A)
c.9863G>A (p.Gly3288Glu)
c.9860G>A (p.Gly3287Glu)
c.3265G>A
c.670G>A
 dbSNP
19g.38517536G>CCA405692461RYR1c.9802G>C (n.9802G>C)
c.9863G>C (p.Gly3288Ala)
c.9860G>C (p.Gly3287Ala)
c.3265G>C
c.670G>C
19g.38517536G=CA2335062073RYR1c.9802G= (n.9802G=)
c.9863G= (p.Gly3288=)
c.9860G= (p.Gly3287=)
c.3265G=
c.670G=
19g.38517536G>TCA084925RYR1c.9802G>T (n.9802G>T)
c.9863G>T (p.Gly3288Val)
c.9860G>T (p.Gly3287Val)
c.3265G>T
c.670G>T
19g.38517537G>ACA507247250RYR1c.9803G>A (n.9803G>A)
c.9864G>A (p.Gly3288=)
c.9861G>A (p.Gly3287=)
c.3266G>A
c.671G>A
 ClinVar dbSNP gnomAD v4
19g.38517537G>CCA507247252RYR1c.9803G>C (n.9803G>C)
c.9864G>C (p.Gly3288=)
c.9861G>C (p.Gly3287=)
c.3266G>C
c.671G>C
19g.38517537G=CA2335062074RYR1c.9803G= (n.9803G=)
c.9864G= (p.Gly3288=)
c.9861G= (p.Gly3287=)
c.3266G=
c.671G=
19g.38517537G>TCA308129868RYR1c.9803G>T (n.9803G>T)
c.9864G>T (p.Gly3288=)
c.9861G>T (p.Gly3287=)
c.3266G>T
c.671G>T
 dbSNP gnomAD v2
19g.38517538C>ACA405692463RYR1c.9804C>A (n.9804C>A)
c.9865C>A (p.Pro3289Thr)
c.9862C>A (p.Pro3288Thr)
c.3267C>A
c.672C>A
 gnomAD v4 COSMIC
19g.38517538C>GCA405692466RYR1c.9804C>G (n.9804C>G)
c.9865C>G (p.Pro3289Ala)
c.9862C>G (p.Pro3288Ala)
c.3267C>G
c.672C>G
19g.38517538C>TCA405692468RYR1c.9804C>T (n.9804C>T)
c.9865C>T (p.Pro3289Ser)
c.9862C>T (p.Pro3288Ser)
c.3267C>T
c.672C>T
19g.38517539C>ACA405692472RYR1c.9805C>A (n.9805C>A)
c.9866C>A (p.Pro3289His)
c.9863C>A (p.Pro3288His)
c.3268C>A
c.673C>A
 dbSNP gnomAD v3 gnomAD v4
19g.38517539C=CA2335062075RYR1c.9805C= (n.9805C=)
c.9866C= (p.Pro3289=)
c.9863C= (p.Pro3288=)
c.3268C=
c.673C=
19g.38517539C>GCA405692474RYR1c.9805C>G (n.9805C>G)
c.9866C>G (p.Pro3289Arg)
c.9863C>G (p.Pro3288Arg)
c.3268C>G
c.673C>G
 gnomAD v4
19g.38517539C>TCA405692475RYR1c.9805C>T (n.9805C>T)
c.9866C>T (p.Pro3289Leu)
c.9863C>T (p.Pro3288Leu)
c.3268C>T
c.673C>T
 dbSNP gnomAD v3 gnomAD v4 COSMIC
19g.38517540C>ACA507247256RYR1c.9806C>A (n.9806C>A)
c.9867C>A (p.Pro3289=)
c.9864C>A (p.Pro3288=)
c.3269C>A
c.674C>A
 ClinVar
19g.38517540C=CA2335062076RYR1c.9806C= (n.9806C=)
c.9867C= (p.Pro3289=)
c.9864C= (p.Pro3288=)
c.3269C=
c.674C=
19g.38517540C>GCA074257RYR1c.9806C>G (n.9806C>G)
c.9867C>G (p.Pro3289=)
c.9864C>G (p.Pro3288=)
c.3269C>G
c.674C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38517540C>TCA074261RYR1c.9806C>T (n.9806C>T)
c.9867C>T (p.Pro3289=)
c.9864C>T (p.Pro3288=)
c.3269C>T
c.674C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38517541G>ACA308129882RYR1c.9807G>A (n.9807G>A)
c.9868G>A (p.Glu3290Lys)
c.9865G>A (p.Glu3289Lys)
c.3270G>A
c.675G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38517541G>CCA405692495RYR1c.9807G>C (n.9807G>C)
c.9868G>C (p.Glu3290Gln)
c.9865G>C (p.Glu3289Gln)
c.3270G>C
c.675G>C
 dbSNP gnomAD v3 gnomAD v4
19g.38517541G=CA2335062077RYR1c.9807G= (n.9807G=)
c.9868G= (p.Glu3290=)
c.9865G= (p.Glu3289=)
c.3270G=
c.675G=
19g.38517541G>TCA405692496RYR1c.9807G>T (n.9807G>T)
c.9868G>T (p.Glu3290Ter)
c.9865G>T (p.Glu3289Ter)
c.3270G>T
c.675G>T
19g.38517542A>CCA405692498RYR1c.9808A>C (n.9808A>C)
c.9869A>C (p.Glu3290Ala)
c.9866A>C (p.Glu3289Ala)
c.3271A>C
c.676A>C
19g.38517542A>GCA405692501RYR1c.9808A>G (n.9808A>G)
c.9869A>G (p.Glu3290Gly)
c.9866A>G (p.Glu3289Gly)
c.3271A>G
c.676A>G
19g.38517542A>TCA405692503RYR1c.9808A>T (n.9808A>T)
c.9869A>T (p.Glu3290Val)
c.9866A>T (p.Glu3289Val)
c.3271A>T
c.676A>T
19g.38517543G>ACA507247259RYR1c.9809G>A (n.9809G>A)
c.9870G>A (p.Glu3290=)
c.9867G>A (p.Glu3289=)
c.3272G>A
c.677G>A
19g.38517543G>CCA405692507RYR1c.9809G>C (n.9809G>C)
c.9870G>C (p.Glu3290Asp)
c.9867G>C (p.Glu3289Asp)
c.3272G>C
c.677G>C
19g.38517543G>TCA405692505RYR1c.9809G>T (n.9809G>T)
c.9870G>T (p.Glu3290Asp)
c.9867G>T (p.Glu3289Asp)
c.3272G>T
c.677G>T
19g.38517544G>ACA074265RYR1c.9810G>A (n.9810G>A)
c.9871G>A (p.Ala3291Thr)
c.9868G>A (p.Ala3290Thr)
c.3273G>A
c.678G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38517544G>CCA405692516RYR1c.9810G>C (n.9810G>C)
c.9871G>C (p.Ala3291Pro)
c.9868G>C (p.Ala3290Pro)
c.3273G>C
c.678G>C
19g.38517544G=CA2335062078RYR1c.9810G= (n.9810G=)
c.9871G= (p.Ala3291=)
c.9868G= (p.Ala3290=)
c.3273G=
c.678G=
19g.38517544G>TCA405692514RYR1c.9810G>T (n.9810G>T)
c.9871G>T (p.Ala3291Ser)
c.9868G>T (p.Ala3290Ser)
c.3273G>T
c.678G>T
19g.38517545C>ACA405692518RYR1c.9811C>A (n.9811C>A)
c.9872C>A (p.Ala3291Glu)
c.9869C>A (p.Ala3290Glu)
c.3274C>A
c.679C>A
19g.38517545C>GCA405692523RYR1c.9811C>G (n.9811C>G)
c.9872C>G (p.Ala3291Gly)
c.9869C>G (p.Ala3290Gly)
c.3274C>G
c.679C>G
19g.38517545C>TCA405692521RYR1c.9811C>T (n.9811C>T)
c.9872C>T (p.Ala3291Val)
c.9869C>T (p.Ala3290Val)
c.3274C>T
c.679C>T
 ClinVar gnomAD v4
19g.38517546delCA2736032367RYR1c.9812del (n.9812del)
c.9873del (p.Pro3293LeufsTer28)
c.9870del (p.Pro3292LeufsTer28)
c.3275del
c.680del
 dbSNP
19g.38517546A>CCA507247262RYR1c.9812A>C (n.9812A>C)
c.9873A>C (p.Ala3291=)
c.9870A>C (p.Ala3290=)
c.3275A>C
c.680A>C
 dbSNP
19g.38517546A>GCA507247263RYR1c.9812A>G (n.9812A>G)
c.9873A>G (p.Ala3291=)
c.9870A>G (p.Ala3290=)
c.3275A>G
c.680A>G
 ClinVar
19g.38517546A>TCA507247264RYR1c.9812A>T (n.9812A>T)
c.9873A>T (p.Ala3291=)
c.9870A>T (p.Ala3290=)
c.3275A>T
c.680A>T
19g.38517547C>ACA405692527RYR1c.9813C>A (n.9813C>A)
c.9874C>A (p.Pro3292Thr)
c.9871C>A (p.Pro3291Thr)
c.3276C>A
c.681C>A
 ClinVar dbSNP gnomAD v4
19g.38517547C=CA2335062079RYR1c.9813C= (n.9813C=)
c.9874C= (p.Pro3292=)
c.9871C= (p.Pro3291=)
c.3276C=
c.681C=
19g.38517547C>GCA405692529RYR1c.9813C>G (n.9813C>G)
c.9874C>G (p.Pro3292Ala)
c.9871C>G (p.Pro3291Ala)
c.3276C>G
c.681C>G
19g.38517547C>TCA074266RYR1c.9813C>T (n.9813C>T)
c.9874C>T (p.Pro3292Ser)
c.9871C>T (p.Pro3291Ser)
c.3276C>T
c.681C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38517551delCA645612189RYR1c.9817del (n.9817del)
c.9878del (p.Pro3293LeufsTer28)
c.9875del (p.Pro3292LeufsTer28)
c.3280del
c.685del
 dbSNP COSMIC
19g.38517548C>ACA405692533RYR1c.9814C>A (n.9814C>A)
c.9875C>A (p.Pro3292His)
c.9872C>A (p.Pro3291His)
c.3277C>A
c.682C>A
19g.38517548C>GCA405692536RYR1c.9814C>G (n.9814C>G)
c.9875C>G (p.Pro3292Arg)
c.9872C>G (p.Pro3291Arg)
c.3277C>G
c.682C>G
19g.38517548C>TCA405692538RYR1c.9814C>T (n.9814C>T)
c.9875C>T (p.Pro3292Leu)
c.9872C>T (p.Pro3291Leu)
c.3277C>T
c.682C>T
19g.38517549C>ACA507247270RYR1c.9815C>A (n.9815C>A)
c.9876C>A (p.Pro3292=)
c.9873C>A (p.Pro3291=)
c.3278C>A
c.683C>A
19g.38517549C=CA2335062080RYR1c.9815C= (n.9815C=)
c.9876C= (p.Pro3292=)
c.9873C= (p.Pro3291=)
c.3278C=
c.683C=
19g.38517549C>GCA507247272RYR1c.9815C>G (n.9815C>G)
c.9876C>G (p.Pro3292=)
c.9873C>G (p.Pro3291=)
c.3278C>G
c.683C>G
 gnomAD v4
19g.38517549C>TCA507247273RYR1c.9815C>T (n.9815C>T)
c.9876C>T (p.Pro3292=)
c.9873C>T (p.Pro3291=)
c.3278C>T
c.683C>T
 dbSNP gnomAD v2 gnomAD v4
19g.38517550C>ACA405692541RYR1c.9816C>A (n.9816C>A)
c.9877C>A (p.Pro3293Thr)
c.9874C>A (p.Pro3292Thr)
c.3279C>A
c.684C>A
 gnomAD v4
19g.38517550C=CA2335062081RYR1c.9816C= (n.9816C=)
c.9877C= (p.Pro3293=)
c.9874C= (p.Pro3292=)
c.3279C=
c.684C=
19g.38517550C>GCA405692544RYR1c.9816C>G (n.9816C>G)
c.9877C>G (p.Pro3293Ala)
c.9874C>G (p.Pro3292Ala)
c.3279C>G
c.684C>G
 dbSNP
19g.38517550C>TCA084936RYR1c.9816C>T (n.9816C>T)
c.9877C>T (p.Pro3293Ser)
c.9874C>T (p.Pro3292Ser)
c.3279C>T
c.684C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38517551C>ACA405692548RYR1c.9817C>A (n.9817C>A)
c.9878C>A (p.Pro3293His)
c.9875C>A (p.Pro3292His)
c.3280C>A
c.685C>A
19g.38517551C>GCA405692551RYR1c.9817C>G (n.9817C>G)
c.9878C>G (p.Pro3293Arg)
c.9875C>G (p.Pro3292Arg)
c.3280C>G
c.685C>G
19g.38517551C>TCA405692557RYR1c.9817C>T (n.9817C>T)
c.9878C>T (p.Pro3293Leu)
c.9875C>T (p.Pro3292Leu)
c.3280C>T
c.685C>T
 gnomAD v4
19g.38517552T>ACA507247278RYR1c.9818T>A (n.9818T>A)
c.9879T>A (p.Pro3293=)
c.9876T>A (p.Pro3292=)
c.3281T>A
c.686T>A
19g.38517552T>CCA507247279RYR1c.9818T>C (n.9818T>C)
c.9879T>C (p.Pro3293=)
c.9876T>C (p.Pro3292=)
c.3281T>C
c.686T>C
19g.38517552T>GCA507247281RYR1c.9818T>G (n.9818T>G)
c.9879T>G (p.Pro3293=)
c.9876T>G (p.Pro3292=)
c.3281T>G
c.686T>G
 dbSNP
19g.38517552_38517553delCA2736032414RYR1c.9818_9819del (n.9818_9819del)
c.9879_9880del (p.Ser3294ArgfsTer16)
c.9876_9877del (p.Ser3293ArgfsTer16)
c.3281_3282del
c.686_687del
 dbSNP
19g.38517553T>ACA405692566RYR1c.9819T>A (n.9819T>A)
c.9880T>A (p.Ser3294Thr)
c.9877T>A (p.Ser3293Thr)
c.3282T>A
c.687T>A
19g.38517553T>CCA405692561RYR1c.9819T>C (n.9819T>C)
c.9880T>C (p.Ser3294Pro)
c.9877T>C (p.Ser3293Pro)
c.3282T>C
c.687T>C
 dbSNP
19g.38517553T>GCA405692563RYR1c.9819T>G (n.9819T>G)
c.9880T>G (p.Ser3294Ala)
c.9877T>G (p.Ser3293Ala)
c.3282T>G
c.687T>G
19g.38517554C>ACA405692568RYR1c.9820C>A (n.9820C>A)
c.9881C>A (p.Ser3294Tyr)
c.9878C>A (p.Ser3293Tyr)
c.3283C>A
c.688C>A
19g.38517554C>GCA405692569RYR1c.9820C>G (n.9820C>G)
c.9881C>G (p.Ser3294Cys)
c.9878C>G (p.Ser3293Cys)
c.3283C>G
c.688C>G
19g.38517554C>TCA405692570RYR1c.9820C>T (n.9820C>T)
c.9881C>T (p.Ser3294Phe)
c.9878C>T (p.Ser3293Phe)
c.3283C>T
c.688C>T
 gnomAD v4
19g.38517555_38517567delCA2504082589RYR1c.9821_9833del (n.9821_9833del)
c.9882_9894del (p.Leu3296ProfsTer21)
c.9879_9891del (p.Leu3295ProfsTer21)
c.3284_3296del
c.689_701del
19g.38517555C>ACA507247321RYR1c.9821C>A (n.9821C>A)
c.9882C>A (p.Ser3294=)
c.9879C>A (p.Ser3293=)
c.3284C>A
c.689C>A
19g.38517555C=CA2335062082RYR1c.9821C= (n.9821C=)
c.9882C= (p.Ser3294=)
c.9879C= (p.Ser3293=)
c.3284C=
c.689C=
19g.38517555C>GCA507247322RYR1c.9821C>G (n.9821C>G)
c.9882C>G (p.Ser3294=)
c.9879C>G (p.Ser3293=)
c.3284C>G
c.689C>G
19g.38517555C>TCA025009RYR1c.9821C>T (n.9821C>T)
c.9882C>T (p.Ser3294=)
c.9879C>T (p.Ser3293=)
c.3284C>T
c.689C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38517556G>ACA074271RYR1c.9822G>A (n.9822G>A)
c.9883G>A (p.Ala3295Thr)
c.9880G>A (p.Ala3294Thr)
c.3285G>A
c.690G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38517556G>CCA405692571RYR1c.9822G>C (n.9822G>C)
c.9883G>C (p.Ala3295Pro)
c.9880G>C (p.Ala3294Pro)
c.3285G>C
c.690G>C
19g.38517556G=CA2335062083RYR1c.9822G= (n.9822G=)
c.9883G= (p.Ala3295=)
c.9880G= (p.Ala3294=)
c.3285G=
c.690G=
19g.38517556G>TCA405692572RYR1c.9822G>T (n.9822G>T)
c.9883G>T (p.Ala3295Ser)
c.9880G>T (p.Ala3294Ser)
c.3285G>T
c.690G>T
19g.38517557C>ACA405692574RYR1c.9823C>A (n.9823C>A)
c.9884C>A (p.Ala3295Asp)
c.9881C>A (p.Ala3294Asp)
c.3286C>A
c.691C>A
19g.38517557C>GCA405692575RYR1c.9823C>G (n.9823C>G)
c.9884C>G (p.Ala3295Gly)
c.9881C>G (p.Ala3294Gly)
c.3286C>G
c.691C>G
19g.38517557C>TCA405692576RYR1c.9823C>T (n.9823C>T)
c.9884C>T (p.Ala3295Val)
c.9881C>T (p.Ala3294Val)
c.3286C>T
c.691C>T
 gnomAD v4
19g.38517558C>ACA507247323RYR1c.9824C>A (n.9824C>A)
c.9885C>A (p.Ala3295=)
c.9882C>A (p.Ala3294=)
c.3287C>A
c.692C>A
 dbSNP
19g.38517558C=CA2335062084RYR1c.9824C= (n.9824C=)
c.9885C= (p.Ala3295=)
c.9882C= (p.Ala3294=)
c.3287C=
c.692C=
19g.38517558C>GCA074275RYR1c.9824C>G (n.9824C>G)
c.9885C>G (p.Ala3295=)
c.9882C>G (p.Ala3294=)
c.3287C>G
c.692C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38517558C>TCA084938RYR1c.9824C>T (n.9824C>T)
c.9885C>T (p.Ala3295=)
c.9882C>T (p.Ala3294=)
c.3287C>T
c.692C>T
19g.38517559C>ACA405692580RYR1c.9825C>A (n.9825C>A)
c.9886C>A (p.Leu3296Met)
c.9883C>A (p.Leu3295Met)
c.3288C>A
c.693C>A
19g.38517559C=CA2335062085RYR1c.9825C= (n.9825C=)
c.9886C= (p.Leu3296=)
c.9883C= (p.Leu3295=)
c.3288C=
c.693C=
19g.38517559C>GCA074279RYR1c.9825C>G (n.9825C>G)
c.9886C>G (p.Leu3296Val)
c.9883C>G (p.Leu3295Val)
c.3288C>G
c.693C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38517559C>TCA507247324RYR1c.9825C>T (n.9825C>T)
c.9886C>T (p.Leu3296=)
c.9883C>T (p.Leu3295=)
c.3288C>T
c.693C>T
 ClinVar
19g.38517560T>ACA405692583RYR1c.9826T>A (n.9826T>A)
c.9887T>A (p.Leu3296Gln)
c.9884T>A (p.Leu3295Gln)
c.3289T>A
c.694T>A
19g.38517560T>CCA405692584RYR1c.9826T>C (n.9826T>C)
c.9887T>C (p.Leu3296Pro)
c.9884T>C (p.Leu3295Pro)
c.3289T>C
c.694T>C
 dbSNP
19g.38517560T>GCA405692586RYR1c.9826T>G (n.9826T>G)
c.9887T>G (p.Leu3296Arg)
c.9884T>G (p.Leu3295Arg)
c.3289T>G
c.694T>G
19g.38517560T=CA2335062086RYR1c.9826T= (n.9826T=)
c.9887T= (p.Leu3296=)
c.9884T= (p.Leu3295=)
c.3289T=
c.694T=
19g.38517561G>ACA507247325RYR1c.9827G>A (n.9827G>A)
c.9888G>A (p.Leu3296=)
c.9885G>A (p.Leu3295=)
c.3290G>A
c.695G>A
 gnomAD v4
19g.38517561G>CCA507247326RYR1c.9827G>C (n.9827G>C)
c.9888G>C (p.Leu3296=)
c.9885G>C (p.Leu3295=)
c.3290G>C
c.695G>C
19g.38517561G=CA2335062087RYR1c.9827G= (n.9827G=)
c.9888G= (p.Leu3296=)
c.9885G= (p.Leu3295=)
c.3290G=
c.695G=
19g.38517561G>TCA507247327RYR1c.9827G>T (n.9827G>T)
c.9888G>T (p.Leu3296=)
c.9885G>T (p.Leu3295=)
c.3290G>T
c.695G>T
19g.38517562C>ACA405692589RYR1c.9828C>A (n.9828C>A)
c.9889C>A (p.Pro3297Thr)
c.9886C>A (p.Pro3296Thr)
c.3291C>A
c.696C>A
19g.38517562C>GCA084945RYR1c.9828C>G (n.9828C>G)
c.9889C>G (p.Pro3297Ala)
c.9886C>G (p.Pro3296Ala)
c.3291C>G
c.696C>G
19g.38517562C>TCA405692594RYR1c.9828C>T (n.9828C>T)
c.9889C>T (p.Pro3297Ser)
c.9886C>T (p.Pro3296Ser)
c.3291C>T
c.696C>T
 ClinVar dbSNP gnomAD v4
19g.38517563C>ACA405692606RYR1c.9829C>A (n.9829C>A)
c.9890C>A (p.Pro3297His)
c.9887C>A (p.Pro3296His)
c.3292C>A
c.697C>A
 gnomAD v4
19g.38517563C>GCA405692601RYR1c.9829C>G (n.9829C>G)
c.9890C>G (p.Pro3297Arg)
c.9887C>G (p.Pro3296Arg)
c.3292C>G
c.697C>G
19g.38517563C>TCA405692603RYR1c.9829C>T (n.9829C>T)
c.9890C>T (p.Pro3297Leu)
c.9887C>T (p.Pro3296Leu)
c.3292C>T
c.697C>T
 COSMIC
19g.38517564C>ACA308129910RYR1c.9830C>A (n.9830C>A)
c.9891C>A (p.Pro3297=)
c.9888C>A (p.Pro3296=)
c.3293C>A
c.698C>A
 dbSNP gnomAD v4
19g.38517564C=CA2335062088RYR1c.9830C= (n.9830C=)
c.9891C= (p.Pro3297=)
c.9888C= (p.Pro3296=)
c.3293C=
c.698C=
19g.38517564C>GCA074286RYR1c.9830C>G (n.9830C>G)
c.9891C>G (p.Pro3297=)
c.9888C>G (p.Pro3296=)
c.3293C>G
c.698C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38517564C>TCA074288RYR1c.9830C>T (n.9830C>T)
c.9891C>T (p.Pro3297=)
c.9888C>T (p.Pro3296=)
c.3293C>T
c.698C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38517565G>ACA074292RYR1c.9831G>A (n.9831G>A)
c.9892G>A (p.Ala3298Thr)
c.9889G>A (p.Ala3297Thr)
c.3294G>A
c.699G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38517565G>CCA405692611RYR1c.9831G>C (n.9831G>C)
c.9892G>C (p.Ala3298Pro)
c.9889G>C (p.Ala3297Pro)
c.3294G>C
c.699G>C
19g.38517565G=CA2335062089RYR1c.9831G= (n.9831G=)
c.9892G= (p.Ala3298=)
c.9889G= (p.Ala3297=)
c.3294G=
c.699G=
19g.38517565G>TCA405692620RYR1c.9831G>T (n.9831G>T)
c.9892G>T (p.Ala3298Ser)
c.9889G>T (p.Ala3297Ser)
c.3294G>T
c.699G>T
 gnomAD v4
19g.38517566C>ACA405692623RYR1c.9832C>A (n.9832C>A)
c.9893C>A (p.Ala3298Asp)
c.9890C>A (p.Ala3297Asp)
c.3295C>A
c.700C>A
19g.38517566C>GCA405692625RYR1c.9832C>G (n.9832C>G)
c.9893C>G (p.Ala3298Gly)
c.9890C>G (p.Ala3297Gly)
c.3295C>G
c.700C>G
19g.38517566C>TCA405692624RYR1c.9832C>T (n.9832C>T)
c.9893C>T (p.Ala3298Val)
c.9890C>T (p.Ala3297Val)
c.3295C>T
c.700C>T
19g.38517566_38517567insTTTTTAATGATACA2572700764RYR1c.9832_9833insTTTTTAATGATA (n.9832_9833insTTTTTAATGATA)
c.9893_9894insTTTTTAATGATA (p.Ala3299PhefsTer2)
c.9890_9891insTTTTTAATGATA (p.Ala3298PhefsTer2)
c.3295_3296insTTTTTAATGATA
c.700_701insTTTTTAATGATA
19g.38517567C>ACA507247328RYR1c.9833C>A (n.9833C>A)
c.9894C>A (p.Ala3298=)
c.9891C>A (p.Ala3297=)
c.3296C>A
c.701C>A
19g.38517567C=CA2335062090RYR1c.9833C= (n.9833C=)
c.9894C= (p.Ala3298=)
c.9891C= (p.Ala3297=)
c.3296C=
c.701C=
19g.38517567C>GCA084949RYR1c.9833C>G (n.9833C>G)
c.9894C>G (p.Ala3298=)
c.9891C>G (p.Ala3297=)
c.3296C>G
c.701C>G
19g.38517567C>TCA074295RYR1c.9833C>T (n.9833C>T)
c.9894C>T (p.Ala3298=)
c.9891C>T (p.Ala3297=)
c.3296C>T
c.701C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38517568G>ACA074299RYR1c.9834G>A (n.9834G>A)
c.9895G>A (p.Gly3299Ser)
c.9892G>A (p.Gly3298Ser)
c.3297G>A
c.702G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38517568G>CCA405692630RYR1c.9834G>C (n.9834G>C)
c.9895G>C (p.Gly3299Arg)
c.9892G>C (p.Gly3298Arg)
c.3297G>C
c.702G>C
19g.38517568G=CA2335062091RYR1c.9834G= (n.9834G=)
c.9895G= (p.Gly3299=)
c.9892G= (p.Gly3298=)
c.3297G=
c.702G=
19g.38517568G>TCA405692632RYR1c.9834G>T (n.9834G>T)
c.9895G>T (p.Gly3299Cys)
c.9892G>T (p.Gly3298Cys)
c.3297G>T
c.702G>T
19g.38517569G>ACA405692635RYR1c.9835G>A (n.9835G>A)
c.9896G>A (p.Gly3299Asp)
c.9893G>A (p.Gly3298Asp)
c.3298G>A
c.703G>A
19g.38517569G>CCA405692637RYR1c.9835G>C (n.9835G>C)
c.9896G>C (p.Gly3299Ala)
c.9893G>C (p.Gly3298Ala)
c.3298G>C
c.703G>C
19g.38517569G=CA2335062092RYR1c.9835G= (n.9835G=)
c.9896G= (p.Gly3299=)
c.9893G= (p.Gly3298=)
c.3298G=
c.703G=
19g.38517569G>TCA074301RYR1c.9835G>T (n.9835G>T)
c.9896G>T (p.Gly3299Val)
c.9893G>T (p.Gly3298Val)
c.3298G>T
c.703G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38517570C>ACA507247329RYR1c.9836C>A (n.9836C>A)
c.9897C>A (p.Gly3299=)
c.9894C>A (p.Gly3298=)
c.3299C>A
c.704C>A
19g.38517570C=CA2335062093RYR1c.9836C= (n.9836C=)
c.9897C= (p.Gly3299=)
c.9894C= (p.Gly3298=)
c.3299C=
c.704C=
19g.38517570C>GCA507247330RYR1c.9836C>G (n.9836C>G)
c.9897C>G (p.Gly3299=)
c.9894C>G (p.Gly3298=)
c.3299C>G
c.704C>G
19g.38517570C>TCA074306RYR1c.9836C>T (n.9836C>T)
c.9897C>T (p.Gly3299=)
c.9894C>T (p.Gly3298=)
c.3299C>T
c.704C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38517571G>ACA084954RYR1c.9837G>A (n.9837G>A)
c.9898G>A (p.Ala3300Thr)
c.9895G>A (p.Ala3299Thr)
c.3300G>A
c.705G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38517571G>CCA405692643RYR1c.9837G>C (n.9837G>C)
c.9898G>C (p.Ala3300Pro)
c.9895G>C (p.Ala3299Pro)
c.3300G>C
c.705G>C
19g.38517571G=CA2335062094RYR1c.9837G= (n.9837G=)
c.9898G= (p.Ala3300=)
c.9895G= (p.Ala3299=)
c.3300G=
c.705G=
19g.38517571G>TCA405692644RYR1c.9837G>T (n.9837G>T)
c.9898G>T (p.Ala3300Ser)
c.9895G>T (p.Ala3299Ser)
c.3300G>T
c.705G>T
19g.38517571_38517572delinsGCCA2335062095RYR1c.9837_9838delinsGC (n.9837_9838delinsGC)
c.9898_9899delinsGC (p.Ala3300=)
c.9895_9896delinsGC (p.Ala3299=)
c.3300_3301delinsGC
c.705_706delinsGC
19g.38517572C>ACA405692647RYR1c.9838C>A (n.9838C>A)
c.9899C>A (p.Ala3300Asp)
c.9896C>A (p.Ala3299Asp)
c.3301C>A
c.706C>A
19g.38517572C=CA2335062096RYR1c.9838C= (n.9838C=)
c.9899C= (p.Ala3300=)
c.9896C= (p.Ala3299=)
c.3301C=
c.706C=
19g.38517572C>GCA405692652RYR1c.9838C>G (n.9838C>G)
c.9899C>G (p.Ala3300Gly)
c.9896C>G (p.Ala3299Gly)
c.3301C>G
c.706C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38517572C>TCA074314RYR1c.9838C>T (n.9838C>T)
c.9899C>T (p.Ala3300Val)
c.9896C>T (p.Ala3299Val)
c.3301C>T
c.706C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38517578dupCA074310RYR1c.9844dup (n.9844dup)
c.9905dup (p.Pro3303ThrfsTer8)
c.9902dup (p.Pro3302ThrfsTer8)
c.3307dup
c.712dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38517578delCA308129931RYR1c.9844del (n.9844del)
c.9905del (p.Pro3302HisfsTer19)
c.9902del (p.Pro3301HisfsTer19)
c.3307del
c.712del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38517575_38517578delCA2555404551RYR1c.9841_9844del (n.9841_9844del)
c.9902_9905del (p.Pro3301HisfsTer19)
c.9899_9902del (p.Pro3300HisfsTer19)
c.3304_3307del
c.709_712del
19g.38517573C>ACA507247331RYR1c.9839C>A (n.9839C>A)
c.9900C>A (p.Ala3300=)
c.9897C>A (p.Ala3299=)
c.3302C>A
c.707C>A
19g.38517573C=CA2335062097RYR1c.9839C= (n.9839C=)
c.9900C= (p.Ala3300=)
c.9897C= (p.Ala3299=)
c.3302C=
c.707C=
19g.38517573C>GCA074318RYR1c.9839C>G (n.9839C>G)
c.9900C>G (p.Ala3300=)
c.9897C>G (p.Ala3299=)
c.3302C>G
c.707C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38517573C>TCA084959RYR1c.9839C>T (n.9839C>T)
c.9900C>T (p.Ala3300=)
c.9897C>T (p.Ala3299=)
c.3302C>T
c.707C>T
19g.38517574C>ACA074322RYR1c.9840C>A (n.9840C>A)
c.9901C>A (p.Pro3301Thr)
c.9898C>A (p.Pro3300Thr)
c.3303C>A
c.708C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38517574C=CA2335062098RYR1c.9840C= (n.9840C=)
c.9901C= (p.Pro3301=)
c.9898C= (p.Pro3300=)
c.3303C=
c.708C=
19g.38517574C>GCA405692654RYR1c.9840C>G (n.9840C>G)
c.9901C>G (p.Pro3301Ala)
c.9898C>G (p.Pro3300Ala)
c.3303C>G
c.708C>G
19g.38517574C>TCA405692655RYR1c.9840C>T (n.9840C>T)
c.9901C>T (p.Pro3301Ser)
c.9898C>T (p.Pro3300Ser)
c.3303C>T
c.708C>T
19g.38517575C>ACA405692656RYR1c.9841C>A (n.9841C>A)
c.9902C>A (p.Pro3301His)
c.9899C>A (p.Pro3300His)
c.3304C>A
c.709C>A
19g.38517575C>GCA405692657RYR1c.9841C>G (n.9841C>G)
c.9902C>G (p.Pro3301Arg)
c.9899C>G (p.Pro3300Arg)
c.3304C>G
c.709C>G
19g.38517575C>TCA084962RYR1c.9841C>T (n.9841C>T)
c.9902C>T (p.Pro3301Leu)
c.9899C>T (p.Pro3300Leu)
c.3304C>T
c.709C>T
19g.38517575_38517576insAAACA2814347235RYR1c.9841_9842insAAA (n.9841_9842insAAA)
c.9902_9903insAAA (p.Pro3301_Pro3302insAsn)
c.9899_9900insAAA (p.Pro3300_Pro3301insAsn)
c.3304_3305insAAA
c.709_710insAAA
19g.38517576C>ACA507247332RYR1c.9842C>A (n.9842C>A)
c.9903C>A (p.Pro3301=)
c.9900C>A (p.Pro3300=)
c.3305C>A
c.710C>A
19g.38517576C=CA2335062099RYR1c.9842C= (n.9842C=)
c.9903C= (p.Pro3301=)
c.9900C= (p.Pro3300=)
c.3305C=
c.710C=
19g.38517576C>GCA084964RYR1c.9842C>G (n.9842C>G)
c.9903C>G (p.Pro3301=)
c.9900C>G (p.Pro3300=)
c.3305C>G
c.710C>G
19g.38517576C>TCA074327RYR1c.9842C>T (n.9842C>T)
c.9903C>T (p.Pro3301=)
c.9900C>T (p.Pro3300=)
c.3305C>T
c.710C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38517577C>ACA084965RYR1c.9843C>A (n.9843C>A)
c.9904C>A (p.Pro3302Thr)
c.9901C>A (p.Pro3301Thr)
c.3306C>A
c.711C>A
19g.38517577C=CA2335062100RYR1c.9843C= (n.9843C=)
c.9904C= (p.Pro3302=)
c.9901C= (p.Pro3301=)
c.3306C=
c.711C=
19g.38517577C>GCA405692666RYR1c.9843C>G (n.9843C>G)
c.9904C>G (p.Pro3302Ala)
c.9901C>G (p.Pro3301Ala)
c.3306C>G
c.711C>G
 dbSNP gnomAD v3 gnomAD v4
19g.38517577C>TCA074331RYR1c.9843C>T (n.9843C>T)
c.9904C>T (p.Pro3302Ser)
c.9901C>T (p.Pro3301Ser)
c.3306C>T
c.711C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38517578C>ACA308129938RYR1c.9844C>A (n.9844C>A)
c.9905C>A (p.Pro3302Gln)
c.9902C>A (p.Pro3301Gln)
c.3307C>A
c.712C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38517578C=CA2335062101RYR1c.9844C= (n.9844C=)
c.9905C= (p.Pro3302=)
c.9902C= (p.Pro3301=)
c.3307C=
c.712C=
19g.38517578C>GCA074333RYR1c.9844C>G (n.9844C>G)
c.9905C>G (p.Pro3302Arg)
c.9902C>G (p.Pro3301Arg)
c.3307C>G
c.712C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38517578C>TCA308129952RYR1c.9844C>T (n.9844C>T)
c.9905C>T (p.Pro3302Leu)
c.9902C>T (p.Pro3301Leu)
c.3307C>T
c.712C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38517579A=CA2335062103RYR1c.9845A= (n.9845A=)
c.9906A= (p.Pro3302=)
c.9903A= (p.Pro3301=)
c.3308A=
c.713A=
19g.38517579A>CCA507247333RYR1c.9845A>C (n.9845A>C)
c.9906A>C (p.Pro3302=)
c.9903A>C (p.Pro3301=)
c.3308A>C
c.713A>C
 dbSNP gnomAD v4
19g.38517579A>GCA507247334RYR1c.9845A>G (n.9845A>G)
c.9906A>G (p.Pro3302=)
c.9903A>G (p.Pro3301=)
c.3308A>G
c.713A>G
 dbSNP
19g.38517579A>TCA507247335RYR1c.9845A>T (n.9845A>T)
c.9906A>T (p.Pro3302=)
c.9903A>T (p.Pro3301=)
c.3308A>T
c.713A>T
 dbSNP gnomAD v2
19g.38517579dupCA2584904103RYR1c.9845dup (n.9845dup)
c.9906dup (p.Pro3303ThrfsTer8)
c.9903dup (p.Pro3302ThrfsTer8)
c.3308dup
c.713dup
 gnomAD v4
19g.38517579_38517580delinsACCA2335062102RYR1c.9845_9846delinsAC (n.9845_9846delinsAC)
c.9906_9907delinsAC (p.Pro3302=)
c.9903_9904delinsAC (p.Pro3301=)
c.3308_3309delinsAC
c.713_714delinsAC
19g.38517580C>ACA405692677RYR1c.9846C>A (n.9846C>A)
c.9907C>A (p.Pro3303Thr)
c.9904C>A (p.Pro3302Thr)
c.3309C>A
c.714C>A
19g.38517580C=CA2335062104RYR1c.9846C= (n.9846C=)
c.9907C= (p.Pro3303=)
c.9904C= (p.Pro3302=)
c.3309C=
c.714C=
19g.38517580C>GCA405692679RYR1c.9846C>G (n.9846C>G)
c.9907C>G (p.Pro3303Ala)
c.9904C>G (p.Pro3302Ala)
c.3309C>G
c.714C>G
19g.38517580C>TCA084969RYR1c.9846C>T (n.9846C>T)
c.9907C>T (p.Pro3303Ser)
c.9904C>T (p.Pro3302Ser)
c.3309C>T
c.714C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38517582delCA074336RYR1c.9848del (n.9848del)
c.9909del (p.Cys3304AlafsTer17)
c.9906del (p.Cys3303AlafsTer17)
c.3311del
c.716del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38517581C>ACA405692685RYR1c.9847C>A (n.9847C>A)
c.9908C>A (p.Pro3303His)
c.9905C>A (p.Pro3302His)
c.3310C>A
c.715C>A
19g.38517581C>GCA084970RYR1c.9847C>G (n.9847C>G)
c.9908C>G (p.Pro3303Arg)
c.9905C>G (p.Pro3302Arg)
c.3310C>G
c.715C>G
 dbSNP gnomAD v3 gnomAD v4
19g.38517581C>TCA405692688RYR1c.9847C>T (n.9847C>T)
c.9908C>T (p.Pro3303Leu)
c.9905C>T (p.Pro3302Leu)
c.3310C>T
c.715C>T
 COSMIC
19g.38517581_38517582insGAGATCA2533756138RYR1c.9847_9848insGAGAT (n.9847_9848insGAGAT)
c.9908_9909insGAGAT (p.Cys3304ArgfsTer19)
c.9905_9906insGAGAT (p.Cys3303ArgfsTer19)
c.3310_3311insGAGAT
c.715_716insGAGAT
19g.38517582C>ACA507247336RYR1c.9848C>A (n.9848C>A)
c.9909C>A (p.Pro3303=)
c.9906C>A (p.Pro3302=)
c.3311C>A
c.716C>A
 dbSNP
19g.38517582C=CA2335062105RYR1c.9848C= (n.9848C=)
c.9909C= (p.Pro3303=)
c.9906C= (p.Pro3302=)
c.3311C=
c.716C=
19g.38517582C>GCA507247337RYR1c.9848C>G (n.9848C>G)
c.9909C>G (p.Pro3303=)
c.9906C>G (p.Pro3302=)
c.3311C>G
c.716C>G
19g.38517582C>TCA507247338RYR1c.9848C>T (n.9848C>T)
c.9909C>T (p.Pro3303=)
c.9906C>T (p.Pro3302=)
c.3311C>T
c.716C>T
 dbSNP gnomAD v2 gnomAD v4
19g.38517583T>ACA405692690RYR1c.9849T>A (n.9849T>A)
c.9910T>A (p.Cys3304Ser)
c.9907T>A (p.Cys3303Ser)
c.3312T>A
c.717T>A
19g.38517583T>CCA074340RYR1c.9849T>C (n.9849T>C)
c.9910T>C (p.Cys3304Arg)
c.9907T>C (p.Cys3303Arg)
c.3312T>C
c.717T>C
 ClinVar dbSNP ExAC
19g.38517583T>GCA405692692RYR1c.9849T>G (n.9849T>G)
c.9910T>G (p.Cys3304Gly)
c.9907T>G (p.Cys3303Gly)
c.3312T>G
c.717T>G
19g.38517583T=CA2335062106RYR1c.9849T= (n.9849T=)
c.9910T= (p.Cys3304=)
c.9907T= (p.Cys3303=)
c.3312T=
c.717T=
19g.38517584G>ACA405692693RYR1c.9850G>A (n.9850G>A)
c.9911G>A (p.Cys3304Tyr)
c.9908G>A (p.Cys3303Tyr)
c.3313G>A
c.718G>A
19g.38517584G>CCA308129955RYR1c.9850G>C (n.9850G>C)
c.9911G>C (p.Cys3304Ser)
c.9908G>C (p.Cys3303Ser)
c.3313G>C
c.718G>C
 dbSNP
19g.38517584G=CA2335062107RYR1c.9850G= (n.9850G=)
c.9911G= (p.Cys3304=)
c.9908G= (p.Cys3303=)
c.3313G=
c.718G=
19g.38517584G>TCA405692695RYR1c.9850G>T (n.9850G>T)
c.9911G>T (p.Cys3304Phe)
c.9908G>T (p.Cys3303Phe)
c.3313G>T
c.718G>T
19g.38517585C>ACA405692698RYR1c.9851C>A (n.9851C>A)
c.9912C>A (p.Cys3304Ter)
c.9909C>A (p.Cys3303Ter)
c.3314C>A
c.719C>A
19g.38517585C=CA2335062108RYR1c.9851C= (n.9851C=)
c.9912C= (p.Cys3304=)
c.9909C= (p.Cys3303=)
c.3314C=
c.719C=
19g.38517585C>GCA405692699RYR1c.9851C>G (n.9851C>G)
c.9912C>G (p.Cys3304Trp)
c.9909C>G (p.Cys3303Trp)
c.3314C>G
c.719C>G
19g.38517585C>TCA507247339RYR1c.9851C>T (n.9851C>T)
c.9912C>T (p.Cys3304=)
c.9909C>T (p.Cys3303=)
c.3314C>T
c.719C>T
 dbSNP gnomAD v4
19g.38517586A>CCA405692705RYR1c.9852A>C (n.9852A>C)
c.9913A>C (p.Thr3305Pro)
c.9910A>C (p.Thr3304Pro)
c.3315A>C
c.720A>C
 gnomAD v3 gnomAD v4
19g.38517586A>GCA405692710RYR1c.9852A>G (n.9852A>G)
c.9913A>G (p.Thr3305Ala)
c.9910A>G (p.Thr3304Ala)
c.3315A>G
c.720A>G
19g.38517586A>TCA405692706RYR1c.9852A>T (n.9852A>T)
c.9913A>T (p.Thr3305Ser)
c.9910A>T (p.Thr3304Ser)
c.3315A>T
c.720A>T
19g.38517587C>ACA405692712RYR1c.9853C>A (n.9853C>A)
c.9914C>A (p.Thr3305Lys)
c.9911C>A (p.Thr3304Lys)
c.3316C>A
c.721C>A
19g.38517587C=CA2335062109RYR1c.9853C= (n.9853C=)
c.9914C= (p.Thr3305=)
c.9911C= (p.Thr3304=)
c.3316C=
c.721C=
19g.38517587C>GCA405692714RYR1c.9853C>G (n.9853C>G)
c.9914C>G (p.Thr3305Arg)
c.9911C>G (p.Thr3304Arg)
c.3316C>G
c.721C>G
19g.38517587C>TCA405692716RYR1c.9853C>T (n.9853C>T)
c.9914C>T (p.Thr3305Ile)
c.9911C>T (p.Thr3304Ile)
c.3316C>T
c.721C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38517588A>CCA507247340RYR1c.9854A>C (n.9854A>C)
c.9915A>C (p.Thr3305=)
c.9912A>C (p.Thr3304=)
c.3317A>C
c.722A>C
19g.38517588A>GCA507247342RYR1c.9854A>G (n.9854A>G)
c.9915A>G (p.Thr3305=)
c.9912A>G (p.Thr3304=)
c.3317A>G
c.722A>G
19g.38517588A>TCA507247341RYR1c.9854A>T (n.9854A>T)
c.9915A>T (p.Thr3305=)
c.9912A>T (p.Thr3304=)
c.3317A>T
c.722A>T
19g.38517589G>ACA074344RYR1c.9855G>A (n.9855G>A)
c.9916G>A (p.Ala3306Thr)
c.9913G>A (p.Ala3305Thr)
c.3318G>A
c.723G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38517589G>CCA405692721RYR1c.9855G>C (n.9855G>C)
c.9916G>C (p.Ala3306Pro)
c.9913G>C (p.Ala3305Pro)
c.3318G>C
c.723G>C
19g.38517589G=CA2335062110RYR1c.9855G= (n.9855G=)
c.9916G= (p.Ala3306=)
c.9913G= (p.Ala3305=)
c.3318G=
c.723G=
19g.38517589G>TCA405692724RYR1c.9855G>T (n.9855G>T)
c.9916G>T (p.Ala3306Ser)
c.9913G>T (p.Ala3305Ser)
c.3318G>T
c.723G>T
19g.38517590C>ACA405692728RYR1c.9856C>A (n.9856C>A)
c.9917C>A (p.Ala3306Asp)
c.9914C>A (p.Ala3305Asp)
c.3319C>A
c.724C>A
19g.38517590C=CA2335062111RYR1c.9856C= (n.9856C=)
c.9917C= (p.Ala3306=)
c.9914C= (p.Ala3305=)
c.3319C=
c.724C=
19g.38517590C>GCA405692731RYR1c.9856C>G (n.9856C>G)
c.9917C>G (p.Ala3306Gly)
c.9914C>G (p.Ala3305Gly)
c.3319C>G
c.724C>G
19g.38517590C>TCA405692733RYR1c.9856C>T (n.9856C>T)
c.9917C>T (p.Ala3306Val)
c.9914C>T (p.Ala3305Val)
c.3319C>T
c.724C>T
 dbSNP
19g.38517591T>ACA507247343RYR1c.9857T>A (n.9857T>A)
c.9918T>A (p.Ala3306=)
c.9915T>A (p.Ala3305=)
c.3320T>A
c.725T>A
19g.38517591T>CCA507247344RYR1c.9857T>C (n.9857T>C)
c.9918T>C (p.Ala3306=)
c.9915T>C (p.Ala3305=)
c.3320T>C
c.725T>C
19g.38517591T>GCA507247345RYR1c.9857T>G (n.9857T>G)
c.9918T>G (p.Ala3306=)
c.9915T>G (p.Ala3305=)
c.3320T>G
c.725T>G
19g.38517592G>ACA084977RYR1c.9858G>A (n.9858G>A)
c.9919G>A (p.Val3307Ile)
c.9916G>A (p.Val3306Ile)
c.3321G>A
c.726G>A
 gnomAD v4
19g.38517592G>CCA405692738RYR1c.9858G>C (n.9858G>C)
c.9919G>C (p.Val3307Leu)
c.9916G>C (p.Val3306Leu)
c.3321G>C
c.726G>C
19g.38517592G>TCA405692739RYR1c.9858G>T (n.9858G>T)
c.9919G>T (p.Val3307Phe)
c.9916G>T (p.Val3306Phe)
c.3321G>T
c.726G>T
 COSMIC
19g.38517593T>ACA405692750RYR1c.9859T>A (n.9859T>A)
c.9920T>A (p.Val3307Asp)
c.9917T>A (p.Val3306Asp)
c.3322T>A
c.727T>A
19g.38517593T>CCA405692748RYR1c.9859T>C (n.9859T>C)
c.9920T>C (p.Val3307Ala)
c.9917T>C (p.Val3306Ala)
c.3322T>C
c.727T>C
 gnomAD v4
19g.38517593T>GCA405692742RYR1c.9859T>G (n.9859T>G)
c.9920T>G (p.Val3307Gly)
c.9917T>G (p.Val3306Gly)
c.3322T>G
c.727T>G
19g.38517594C>ACA507247346RYR1c.9860C>A (n.9860C>A)
c.9921C>A (p.Val3307=)
c.9918C>A (p.Val3306=)
c.3323C>A
c.728C>A
19g.38517594C=CA2335062112RYR1c.9860C= (n.9860C=)
c.9921C= (p.Val3307=)
c.9918C= (p.Val3306=)
c.3323C=
c.728C=
19g.38517594C>GCA507247347RYR1c.9860C>G (n.9860C>G)
c.9921C>G (p.Val3307=)
c.9918C>G (p.Val3306=)
c.3323C>G
c.728C>G
 gnomAD v4
19g.38517594C>TCA507247348RYR1c.9860C>T (n.9860C>T)
c.9921C>T (p.Val3307=)
c.9918C>T (p.Val3306=)
c.3323C>T
c.728C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38517595A>CCA405692752RYR1c.9861A>C (n.9861A>C)
c.9922A>C (p.Thr3308Pro)
c.9919A>C (p.Thr3307Pro)
c.3324A>C
c.729A>C
19g.38517595A>GCA405692760RYR1c.9861A>G (n.9861A>G)
c.9922A>G (p.Thr3308Ala)
c.9919A>G (p.Thr3307Ala)
c.3324A>G
c.729A>G
19g.38517595A>TCA405692765RYR1c.9861A>T (n.9861A>T)
c.9922A>T (p.Thr3308Ser)
c.9919A>T (p.Thr3307Ser)
c.3324A>T
c.729A>T
19g.38517596C>ACA405692778RYR1c.9862C>A (n.9862C>A)
c.9923C>A (p.Thr3308Asn)
c.9920C>A (p.Thr3307Asn)
c.3325C>A
c.730C>A
19g.38517596C>GCA405692780RYR1c.9862C>G (n.9862C>G)
c.9923C>G (p.Thr3308Ser)
c.9920C>G (p.Thr3307Ser)
c.3325C>G
c.730C>G
19g.38517596C>TCA405692788RYR1c.9862C>T (n.9862C>T)
c.9923C>T (p.Thr3308Ile)
c.9920C>T (p.Thr3307Ile)
c.3325C>T
c.730C>T
 ClinVar

Number of alleles fetched