Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38500670T>ACA405670077RYR1c.7388T>A (p.Leu2463Ter)
c.7385T>A (p.Leu2462Ter)
c.840T>A
n.7471T>A
19g.38500670T>CCA405670079RYR1c.7388T>C (p.Leu2463Ser)
c.7385T>C (p.Leu2462Ser)
c.840T>C
n.7471T>C
gnomAD v4 COSMIC
19g.38500670T>GCA405670080RYR1c.7388T>G (p.Leu2463Trp)
c.7385T>G (p.Leu2462Trp)
c.840T>G
n.7471T>G
19g.38500671G>ACA507353956RYR1c.7389G>A (p.Leu2463=)
c.7386G>A (p.Leu2462=)
c.841G>A
n.7472G>A
19g.38500671G>CCA405670082RYR1c.7389G>C (p.Leu2463Phe)
c.7386G>C (p.Leu2462Phe)
c.841G>C
n.7472G>C
19g.38500671G>TCA405670084RYR1c.7389G>T (p.Leu2463Phe)
c.7386G>T (p.Leu2462Phe)
c.841G>T
n.7472G>T
19g.38500672G>ACA405670085RYR1c.7390G>A (p.Glu2464Lys)
c.7387G>A (p.Glu2463Lys)
c.842G>A
n.7473G>A
19g.38500672G>CCA405670087RYR1c.7390G>C (p.Glu2464Gln)
c.7387G>C (p.Glu2463Gln)
c.842G>C
n.7473G>C
19g.38500672G>TCA405670086RYR1c.7390G>T (p.Glu2464Ter)
c.7387G>T (p.Glu2463Ter)
c.842G>T
n.7473G>T
19g.38500673A>CCA405670089RYR1c.7391A>C (p.Glu2464Ala)
c.7388A>C (p.Glu2463Ala)
c.843A>C
n.7474A>C
19g.38500673A>GCA405670090RYR1c.7391A>G (p.Glu2464Gly)
c.7388A>G (p.Glu2463Gly)
c.843A>G
n.7474A>G
19g.38500673A>TCA405670092RYR1c.7391A>T (p.Glu2464Val)
c.7388A>T (p.Glu2463Val)
c.843A>T
n.7474A>T
19g.38500674G>ACA507353957RYR1c.7392G>A (p.Glu2464=)
c.7389G>A (p.Glu2463=)
c.844G>A
n.7475G>A
ClinVar gnomAD v4
19g.38500674G>CCA405670093RYR1c.7392G>C (p.Glu2464Asp)
c.7389G>C (p.Glu2463Asp)
c.844G>C
n.7475G>C
dbSNP
19g.38500674G>TCA405670095RYR1c.7392G>T (p.Glu2464Asp)
c.7389G>T (p.Glu2463Asp)
c.844G>T
n.7475G>T
19g.38500675G>ACA069589RYR1c.7393G>A (p.Asp2465Asn)
c.7390G>A (p.Asp2464Asn)
c.845G>A
n.7476G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38500675G>CCA405670096RYR1c.7393G>C (p.Asp2465His)
c.7390G>C (p.Asp2464His)
c.845G>C
n.7476G>C
19g.38500675G=CA2335053369RYR1c.7393G= (p.Asp2465=)
c.7390G= (p.Asp2464=)
c.845G=
n.7476G=
19g.38500675G>TCA405670098RYR1c.7393G>T (p.Asp2465Tyr)
c.7390G>T (p.Asp2464Tyr)
c.845G>T
n.7476G>T
19g.38500676A>CCA405670100RYR1c.7394A>C (p.Asp2465Ala)
c.7391A>C (p.Asp2464Ala)
c.846A>C
n.7477A>C
19g.38500676A>GCA405670101RYR1c.7394A>G (p.Asp2465Gly)
c.7391A>G (p.Asp2464Gly)
c.846A>G
n.7477A>G
19g.38500676A>TCA405670103RYR1c.7394A>T (p.Asp2465Val)
c.7391A>T (p.Asp2464Val)
c.846A>T
n.7477A>T
19g.38500677C>ACA405670105RYR1c.7395C>A (p.Asp2465Glu)
c.7392C>A (p.Asp2464Glu)
c.847C>A
n.7478C>A
19g.38500677C>GCA405670104RYR1c.7395C>G (p.Asp2465Glu)
c.7392C>G (p.Asp2464Glu)
c.847C>G
n.7478C>G
19g.38500677C>TCA507353959RYR1c.7395C>T (p.Asp2465=)
c.7392C>T (p.Asp2464=)
c.847C>T
n.7478C>T
19g.38500678C>ACA405670106RYR1c.7396C>A (p.Leu2466Ile)
c.7393C>A (p.Leu2465Ile)
c.848C>A
n.7479C>A
19g.38500678C=CA2335053370RYR1c.7396C= (p.Leu2466=)
c.7393C= (p.Leu2465=)
c.848C=
n.7479C=
19g.38500678C>GCA405670109RYR1c.7396C>G (p.Leu2466Val)
c.7393C>G (p.Leu2465Val)
c.848C>G
n.7479C>G
gnomAD v4
19g.38500678C>TCA069593RYR1c.7396C>T (p.Leu2466Phe)
c.7393C>T (p.Leu2465Phe)
c.848C>T
n.7479C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38500679T>ACA405670111RYR1c.7397T>A (p.Leu2466His)
c.7394T>A (p.Leu2465His)
c.849T>A
n.7480T>A
19g.38500679T>CCA405670112RYR1c.7397T>C (p.Leu2466Pro)
c.7394T>C (p.Leu2465Pro)
c.849T>C
n.7480T>C
19g.38500679T>GCA405670113RYR1c.7397T>G (p.Leu2466Arg)
c.7394T>G (p.Leu2465Arg)
c.849T>G
n.7480T>G
19g.38500680T>ACA507353960RYR1c.7398T>A (p.Leu2466=)
c.7395T>A (p.Leu2465=)
c.850T>A
n.7481T>A
19g.38500680T>CCA507353961RYR1c.7398T>C (p.Leu2466=)
c.7395T>C (p.Leu2465=)
c.850T>C
n.7481T>C
19g.38500680T>GCA507353962RYR1c.7398T>G (p.Leu2466=)
c.7395T>G (p.Leu2465=)
c.850T>G
n.7481T>G
19g.38500681G>ACA405670115RYR1c.7399G>A (p.Val2467Met)
c.7396G>A (p.Val2466Met)
c.851G>A
n.7482G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38500681G>CCA405670117RYR1c.7399G>C (p.Val2467Leu)
c.7396G>C (p.Val2466Leu)
c.851G>C
n.7482G>C
19g.38500681G=CA2335053371RYR1c.7399G= (p.Val2467=)
c.7396G= (p.Val2466=)
c.851G=
n.7482G=
19g.38500681G>TCA405670118RYR1c.7399G>T (p.Val2467Leu)
c.7396G>T (p.Val2466Leu)
c.851G>T
n.7482G>T
19g.38500682T>ACA405670120RYR1c.7400T>A (p.Val2467Glu)
c.7397T>A (p.Val2466Glu)
c.852T>A
n.7483T>A
19g.38500682T>CCA405670121RYR1c.7400T>C (p.Val2467Ala)
c.7397T>C (p.Val2466Ala)
c.852T>C
n.7483T>C
19g.38500682T>GCA405670123RYR1c.7400T>G (p.Val2467Gly)
c.7397T>G (p.Val2466Gly)
c.852T>G
n.7483T>G
19g.38500683G>ACA308110426RYR1c.7401G>A (p.Val2467=)
c.7398G>A (p.Val2466=)
c.853G>A
n.7484G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38500683G>CCA507353964RYR1c.7401G>C (p.Val2467=)
c.7398G>C (p.Val2466=)
c.853G>C
n.7484G>C
19g.38500683G=CA2335053372RYR1c.7401G= (p.Val2467=)
c.7398G= (p.Val2466=)
c.853G=
n.7484G=
19g.38500683G>TCA507353963RYR1c.7401G>T (p.Val2467=)
c.7398G>T (p.Val2466=)
c.853G>T
n.7484G>T
19g.38500684G>ACA405670124RYR1c.7402G>A (p.Gly2468Ser)
c.7399G>A (p.Gly2467Ser)
c.854G>A
n.7485G>A
19g.38500684G>CCA405670127RYR1c.7402G>C (p.Gly2468Arg)
c.7399G>C (p.Gly2467Arg)
c.854G>C
n.7485G>C
19g.38500684G>TCA405670128RYR1c.7402G>T (p.Gly2468Cys)
c.7399G>T (p.Gly2467Cys)
c.854G>T
n.7485G>T
19g.38500685G>ACA069603RYR1c.7403G>A (p.Gly2468Asp)
c.7400G>A (p.Gly2467Asp)
c.855G>A
n.7486G>A
dbSNP ExAC gnomAD v3 gnomAD v4
19g.38500685G>CCA405670130RYR1c.7403G>C (p.Gly2468Ala)
c.7400G>C (p.Gly2467Ala)
c.855G>C
n.7486G>C
19g.38500685G=CA2335053373RYR1c.7403G= (p.Gly2468=)
c.7400G= (p.Gly2467=)
c.855G=
n.7486G=
19g.38500685G>TCA405670129RYR1c.7403G>T (p.Gly2468Val)
c.7400G>T (p.Gly2467Val)
c.855G>T
n.7486G>T
19g.38500686C>ACA507353965RYR1c.7404C>A (p.Gly2468=)
c.7401C>A (p.Gly2467=)
c.856C>A
n.7487C>A
19g.38500686C>GCA507353966RYR1c.7404C>G (p.Gly2468=)
c.7401C>G (p.Gly2467=)
c.856C>G
n.7487C>G
19g.38500686C>TCA507353967RYR1c.7404C>T (p.Gly2468=)
c.7401C>T (p.Gly2467=)
c.856C>T
n.7487C>T
19g.38500691_38500693delCA2576770848RYR1c.7409_7411del (p.Ile2470del)
c.7406_7408del (p.Ile2469del)
c.861_863del
n.7492_7494del
19g.38500687A>CCA405670131RYR1c.7405A>C (p.Ile2469Leu)
c.7402A>C (p.Ile2468Leu)
c.857A>C
n.7488A>C
19g.38500687A>GCA405670132RYR1c.7405A>G (p.Ile2469Val)
c.7402A>G (p.Ile2468Val)
c.857A>G
n.7488A>G
19g.38500687A>TCA405670133RYR1c.7405A>T (p.Ile2469Phe)
c.7402A>T (p.Ile2468Phe)
c.857A>T
n.7488A>T
19g.38500688T>ACA405670134RYR1c.7406T>A (p.Ile2469Asn)
c.7403T>A (p.Ile2468Asn)
c.858T>A
n.7489T>A
19g.38500688T>CCA069604RYR1c.7406T>C (p.Ile2469Thr)
c.7403T>C (p.Ile2468Thr)
c.858T>C
n.7489T>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38500688T>GCA405670135RYR1c.7406T>G (p.Ile2469Ser)
c.7403T>G (p.Ile2468Ser)
c.858T>G
n.7489T>G
19g.38500688T=CA2335053374RYR1c.7406T= (p.Ile2469=)
c.7403T= (p.Ile2468=)
c.858T=
n.7489T=
19g.38500689C>ACA507353968RYR1c.7407C>A (p.Ile2469=)
c.7404C>A (p.Ile2468=)
c.859C>A
n.7490C>A
19g.38500689C>GCA405670136RYR1c.7407C>G (p.Ile2469Met)
c.7404C>G (p.Ile2468Met)
c.859C>G
n.7490C>G
19g.38500689C>TCA507353969RYR1c.7407C>T (p.Ile2469=)
c.7404C>T (p.Ile2468=)
c.859C>T
n.7490C>T
COSMIC
19g.38500690A>CCA405670137RYR1c.7408A>C (p.Ile2470Leu)
c.7405A>C (p.Ile2469Leu)
c.860A>C
n.7491A>C
19g.38500690A>GCA405670138RYR1c.7408A>G (p.Ile2470Val)
c.7405A>G (p.Ile2469Val)
c.860A>G
n.7491A>G
19g.38500690A>TCA405670139RYR1c.7408A>T (p.Ile2470Phe)
c.7405A>T (p.Ile2469Phe)
c.860A>T
n.7491A>T
19g.38500691T>ACA405670140RYR1c.7409T>A (p.Ile2470Asn)
c.7406T>A (p.Ile2469Asn)
c.861T>A
n.7492T>A
19g.38500691T>CCA082438RYR1c.7409T>C (p.Ile2470Thr)
c.7406T>C (p.Ile2469Thr)
c.861T>C
n.7492T>C
19g.38500691T>GCA405670141RYR1c.7409T>G (p.Ile2470Ser)
c.7406T>G (p.Ile2469Ser)
c.861T>G
n.7492T>G
19g.38500692C>ACA507353970RYR1c.7410C>A (p.Ile2470=)
c.7407C>A (p.Ile2469=)
c.862C>A
n.7493C>A
19g.38500692C=CA2335053375RYR1c.7410C= (p.Ile2470=)
c.7407C= (p.Ile2469=)
c.862C=
n.7493C=
19g.38500692C>GCA405670142RYR1c.7410C>G (p.Ile2470Met)
c.7407C>G (p.Ile2469Met)
c.862C>G
n.7493C>G
19g.38500692C>TCA069609RYR1c.7410C>T (p.Ile2470=)
c.7407C>T (p.Ile2469=)
c.862C>T
n.7493C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38500693A>CCA405670143RYR1c.7411A>C (p.Ser2471Arg)
c.7408A>C (p.Ser2470Arg)
c.863A>C
n.7494A>C
19g.38500693A>GCA405670145RYR1c.7411A>G (p.Ser2471Gly)
c.7408A>G (p.Ser2470Gly)
c.863A>G
n.7494A>G
19g.38500693A>TCA405670144RYR1c.7411A>T (p.Ser2471Cys)
c.7408A>T (p.Ser2470Cys)
c.863A>T
n.7494A>T
19g.38500694G>ACA405670146RYR1c.7412G>A (p.Ser2471Asn)
c.7409G>A (p.Ser2470Asn)
c.864G>A
n.7495G>A
dbSNP gnomAD v2
19g.38500694G>CCA405670147RYR1c.7412G>C (p.Ser2471Thr)
c.7409G>C (p.Ser2470Thr)
c.864G>C
n.7495G>C
19g.38500694G=CA2335053376RYR1c.7412G= (p.Ser2471=)
c.7409G= (p.Ser2470=)
c.864G=
n.7495G=
19g.38500694G>TCA405670148RYR1c.7412G>T (p.Ser2471Ile)
c.7409G>T (p.Ser2470Ile)
c.864G>T
n.7495G>T
19g.38500695C>ACA405670149RYR1c.7413C>A (p.Ser2471Arg)
c.7410C>A (p.Ser2470Arg)
c.865C>A
n.7496C>A
19g.38500695C>GCA405670151RYR1c.7413C>G (p.Ser2471Arg)
c.7410C>G (p.Ser2470Arg)
c.865C>G
n.7496C>G
19g.38500695C>TCA082439RYR1c.7413C>T (p.Ser2471=)
c.7410C>T (p.Ser2470=)
c.865C>T
n.7496C>T
19g.38500696C>ACA405670152RYR1c.7414C>A (p.Leu2472Ile)
c.7411C>A (p.Leu2471Ile)
c.866C>A
n.7497C>A
19g.38500696C>GCA405670153RYR1c.7414C>G (p.Leu2472Val)
c.7411C>G (p.Leu2471Val)
c.866C>G
n.7497C>G
19g.38500696C>TCA405670154RYR1c.7414C>T (p.Leu2472Phe)
c.7411C>T (p.Leu2471Phe)
c.866C>T
n.7497C>T
gnomAD v4
19g.38500697T>ACA405670155RYR1c.7415T>A (p.Leu2472His)
c.7412T>A (p.Leu2471His)
c.867T>A
n.7498T>A
19g.38500697T>CCA405670156RYR1c.7415T>C (p.Leu2472Pro)
c.7412T>C (p.Leu2471Pro)
c.867T>C
n.7498T>C
19g.38500697T>GCA405670157RYR1c.7415T>G (p.Leu2472Arg)
c.7412T>G (p.Leu2471Arg)
c.867T>G
n.7498T>G
19g.38500698C>ACA507353971RYR1c.7416C>A (p.Leu2472=)
c.7413C>A (p.Leu2471=)
c.868C>A
n.7499C>A
19g.38500698C=CA2335053377RYR1c.7416C= (p.Leu2472=)
c.7413C= (p.Leu2471=)
c.868C=
n.7499C=
19g.38500698C>GCA308110445RYR1c.7416C>G (p.Leu2472=)
c.7413C>G (p.Leu2471=)
c.868C>G
n.7499C>G
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38500698C>TCA507353972RYR1c.7416C>T (p.Leu2472=)
c.7413C>T (p.Leu2471=)
c.868C>T
n.7499C>T
19g.38500699C>ACA405670160RYR1c.7417C>A (p.Pro2473Thr)
c.7414C>A (p.Pro2472Thr)
c.869C>A
n.7500C>A
dbSNP gnomAD v3 gnomAD v4
19g.38500699C=CA2335053378RYR1c.7417C= (p.Pro2473=)
c.7414C= (p.Pro2472=)
c.869C=
n.7500C=
19g.38500699C>GCA405670159RYR1c.7417C>G (p.Pro2473Ala)
c.7414C>G (p.Pro2472Ala)
c.869C>G
n.7500C>G
19g.38500699C>TCA405670158RYR1c.7417C>T (p.Pro2473Ser)
c.7414C>T (p.Pro2472Ser)
c.869C>T
n.7500C>T
dbSNP gnomAD v4
19g.38500700C>ACA405670161RYR1c.7418C>A (p.Pro2473Gln)
c.7415C>A (p.Pro2472Gln)
c.870C>A
n.7501C>A
19g.38500700C>GCA405670162RYR1c.7418C>G (p.Pro2473Arg)
c.7415C>G (p.Pro2472Arg)
c.870C>G
n.7501C>G
19g.38500700C>TCA405670163RYR1c.7418C>T (p.Pro2473Leu)
c.7415C>T (p.Pro2472Leu)
c.870C>T
n.7501C>T
19g.38500701A=CA2335053379RYR1c.7419A= (p.Pro2473=)
c.7416A= (p.Pro2472=)
c.871A=
n.7502A=
19g.38500701A>CCA507353973RYR1c.7419A>C (p.Pro2473=)
c.7416A>C (p.Pro2472=)
c.871A>C
n.7502A>C
19g.38500701A>GCA507353974RYR1c.7419A>G (p.Pro2473=)
c.7416A>G (p.Pro2472=)
c.871A>G
n.7502A>G
dbSNP gnomAD v3 gnomAD v4
19g.38500701A>TCA507353975RYR1c.7419A>T (p.Pro2473=)
c.7416A>T (p.Pro2472=)
c.871A>T
n.7502A>T
19g.38500702C>ACA405670164RYR1c.7420C>A (p.Leu2474Met)
c.7417C>A (p.Leu2473Met)
c.872C>A
n.7503C>A
19g.38500702C=CA2335053380RYR1c.7420C= (p.Leu2474=)
c.7417C= (p.Leu2473=)
c.872C=
n.7503C=
19g.38500702C>GCA069613RYR1c.7420C>G (p.Leu2474Val)
c.7417C>G (p.Leu2473Val)
c.872C>G
n.7503C>G
ClinVar dbSNP ExAC gnomAD v2
19g.38500702C>TCA507353976RYR1c.7420C>T (p.Leu2474=)
c.7417C>T (p.Leu2473=)
c.872C>T
n.7503C>T
19g.38500703_38500705dupCA308110455RYR1c.7421_7423dup (p.Leu2474_Gln2475insLeu)
c.7418_7420dup (p.Leu2473_Gln2474insLeu)
c.873_875dup
n.7504_7506dup
dbSNP gnomAD v3 gnomAD v4
19g.38500703T>ACA405670165RYR1c.7421T>A (p.Leu2474Gln)
c.7418T>A (p.Leu2473Gln)
c.873T>A
n.7504T>A
19g.38500703T>CCA405670166RYR1c.7421T>C (p.Leu2474Pro)
c.7418T>C (p.Leu2473Pro)
c.873T>C
n.7504T>C
19g.38500703T>GCA405670167RYR1c.7421T>G (p.Leu2474Arg)
c.7418T>G (p.Leu2473Arg)
c.873T>G
n.7504T>G
19g.38500704G>ACA069615RYR1c.7422G>A (p.Leu2474=)
c.7419G>A (p.Leu2473=)
c.874G>A
n.7505G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38500704G>CCA507353978RYR1c.7422G>C (p.Leu2474=)
c.7419G>C (p.Leu2473=)
c.874G>C
n.7505G>C
19g.38500704G=CA2335053381RYR1c.7422G= (p.Leu2474=)
c.7419G= (p.Leu2473=)
c.874G=
n.7505G=
19g.38500704G>TCA507353977RYR1c.7422G>T (p.Leu2474=)
c.7419G>T (p.Leu2473=)
c.874G>T
n.7505G>T
19g.38500704_38500705delinsGCCA2335053382RYR1c.7422_7423delinsGC (p.Leu2474=)
c.7419_7420delinsGC (p.Leu2473=)
c.874_875delinsGC
n.7505_7506delinsGC
19g.38500705delCA882052351RYR1c.7423del (p.Gln2475ArgfsTer?)
c.7420del (p.Gln2474ArgfsTer?)
c.875del
n.7506del
dbSNP gnomAD v3 gnomAD v4
19g.38500705C>ACA405670168RYR1c.7423C>A (p.Gln2475Lys)
c.7420C>A (p.Gln2474Lys)
c.875C>A
n.7506C>A
gnomAD v4
19g.38500705C>GCA082440RYR1c.7423C>G (p.Gln2475Glu)
c.7420C>G (p.Gln2474Glu)
c.875C>G
n.7506C>G
19g.38500705C>TCA405670169RYR1c.7423C>T (p.Gln2475Ter)
c.7420C>T (p.Gln2474Ter)
c.875C>T
n.7506C>T
gnomAD v4
19g.38500706A>CCA405670170RYR1c.7424A>C (p.Gln2475Pro)
c.7421A>C (p.Gln2474Pro)
c.876A>C
n.7507A>C
19g.38500706A>GCA405670172RYR1c.7424A>G (p.Gln2475Arg)
c.7421A>G (p.Gln2474Arg)
c.876A>G
n.7507A>G
19g.38500706A>TCA405670171RYR1c.7424A>T (p.Gln2475Leu)
c.7421A>T (p.Gln2474Leu)
c.876A>T
n.7507A>T
19g.38500707G>ACA024793RYR1c.7425G>A (p.Gln2475=)
c.7422G>A (p.Gln2474=)
c.877G>A
n.7508G>A
ClinVar dbSNP
19g.38500707G>CCA405670174RYR1c.7425G>C (p.Gln2475His)
c.7422G>C (p.Gln2474His)
c.877G>C
n.7508G>C
19g.38500707G=CA2335053383RYR1c.7425G= (p.Gln2475=)
c.7422G= (p.Gln2474=)
c.877G=
n.7508G=
19g.38500707G>TCA405670173RYR1c.7425G>T (p.Gln2475His)
c.7422G>T (p.Gln2474His)
c.877G>T
n.7508G>T
COSMIC
19g.38500708A=CA2335053384RYR1c.7426A= (p.Ile2476=)
c.7423A= (p.Ile2475=)
c.878A=
n.7509A=
19g.38500708A>CCA308110483RYR1c.7426A>C (p.Ile2476Leu)
c.7423A>C (p.Ile2475Leu)
c.878A>C
n.7509A>C
dbSNP
19g.38500708A>GCA405670175RYR1c.7426A>G (p.Ile2476Val)
c.7423A>G (p.Ile2475Val)
c.878A>G
n.7509A>G
19g.38500708A>TCA405670176RYR1c.7426A>T (p.Ile2476Phe)
c.7423A>T (p.Ile2475Phe)
c.878A>T
n.7509A>T
ClinVar gnomAD v4
19g.38500709T>ACA405670177RYR1c.7427T>A (p.Ile2476Asn)
c.7424T>A (p.Ile2475Asn)
c.879T>A
n.7510T>A
19g.38500709T>CCA405670178RYR1c.7427T>C (p.Ile2476Thr)
c.7424T>C (p.Ile2475Thr)
c.879T>C
n.7510T>C
19g.38500709T>GCA405670179RYR1c.7427T>G (p.Ile2476Ser)
c.7424T>G (p.Ile2475Ser)
c.879T>G
n.7510T>G
dbSNP gnomAD v4
19g.38500709T=CA2335053385RYR1c.7427T= (p.Ile2476=)
c.7424T= (p.Ile2475=)
c.879T=
n.7510T=
19g.38500710T>ACA507353979RYR1c.7428T>A (p.Ile2476=)
c.7425T>A (p.Ile2475=)
c.880T>A
n.7511T>A
19g.38500710T>CCA507353980RYR1c.7428T>C (p.Ile2476=)
c.7425T>C (p.Ile2475=)
c.880T>C
n.7511T>C
19g.38500710T>GCA405670180RYR1c.7428T>G (p.Ile2476Met)
c.7425T>G (p.Ile2475Met)
c.880T>G
n.7511T>G
19g.38500711C>ACA405670181RYR1c.7429C>A (p.Pro2477Thr)
c.7426C>A (p.Pro2476Thr)
c.881C>A
n.7512C>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38500711C=CA2335053386RYR1c.7429C= (p.Pro2477=)
c.7426C= (p.Pro2476=)
c.881C=
n.7512C=
19g.38500711C>GCA405670182RYR1c.7429C>G (p.Pro2477Ala)
c.7426C>G (p.Pro2476Ala)
c.881C>G
n.7512C>G
19g.38500711C>TCA308110491RYR1c.7429C>T (p.Pro2477Ser)
c.7426C>T (p.Pro2476Ser)
c.881C>T
n.7512C>T
dbSNP gnomAD v3 gnomAD v4
19g.38500712C>ACA405670183RYR1c.7430C>A (p.Pro2477His)
c.7427C>A (p.Pro2476His)
c.882C>A
n.7513C>A
19g.38500712C>GCA405670184RYR1c.7430C>G (p.Pro2477Arg)
c.7427C>G (p.Pro2476Arg)
c.882C>G
n.7513C>G
19g.38500712C>TCA405670185RYR1c.7430C>T (p.Pro2477Leu)
c.7427C>T (p.Pro2476Leu)
c.882C>T
n.7513C>T
19g.38500713C>ACA507353981RYR1c.7431C>A (p.Pro2477=)
c.7428C>A (p.Pro2476=)
c.883C>A
n.7514C>A
19g.38500713C>GCA507353982RYR1c.7431C>G (p.Pro2477=)
c.7428C>G (p.Pro2476=)
c.883C>G
n.7514C>G
19g.38500713C>TCA507353983RYR1c.7431C>T (p.Pro2477=)
c.7428C>T (p.Pro2476=)
c.883C>T
n.7514C>T
19g.38500714A=CA2335053387RYR1c.7432A= (p.Thr2478=)
c.7429A= (p.Thr2477=)
c.884A=
n.7515A=
19g.38500714A>CCA405670186RYR1c.7432A>C (p.Thr2478Pro)
c.7429A>C (p.Thr2477Pro)
c.884A>C
n.7515A>C
19g.38500714A>GCA405670188RYR1c.7432A>G (p.Thr2478Ala)
c.7429A>G (p.Thr2477Ala)
c.884A>G
n.7515A>G
dbSNP
19g.38500714A>TCA405670187RYR1c.7432A>T (p.Thr2478Ser)
c.7429A>T (p.Thr2477Ser)
c.884A>T
n.7515A>T
19g.38500715C>ACA069622RYR1c.7433C>A (p.Thr2478Asn)
c.7430C>A (p.Thr2477Asn)
c.885C>A
n.7516C>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38500715C=CA2335053388RYR1c.7433C= (p.Thr2478=)
c.7430C= (p.Thr2477=)
c.885C=
n.7516C=
19g.38500715C>GCA405670189RYR1c.7433C>G (p.Thr2478Ser)
c.7430C>G (p.Thr2477Ser)
c.885C>G
n.7516C>G
19g.38500715C>TCA405670190RYR1c.7433C>T (p.Thr2478Ile)
c.7430C>T (p.Thr2477Ile)
c.885C>T
n.7516C>T
dbSNP gnomAD v3 gnomAD v4
19g.38500716C>ACA507353984RYR1c.7434C>A (p.Thr2478=)
c.7431C>A (p.Thr2477=)
c.886C>A
n.7517C>A
gnomAD v4
19g.38500716C=CA2335053389RYR1c.7434C= (p.Thr2478=)
c.7431C= (p.Thr2477=)
c.886C=
n.7517C=
19g.38500716C>GCA069624RYR1c.7434C>G (p.Thr2478=)
c.7431C>G (p.Thr2477=)
c.886C>G
n.7517C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38500716C>TCA507353985RYR1c.7434C>T (p.Thr2478=)
c.7431C>T (p.Thr2477=)
c.886C>T
n.7517C>T
gnomAD v4
19g.38500717C>ACA405670191RYR1c.7435C>A (p.Leu2479Met)
c.7432C>A (p.Leu2478Met)
c.887C>A
n.7518C>A
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38500717C=CA2335053390RYR1c.7435C= (p.Leu2479=)
c.7432C= (p.Leu2478=)
c.887C=
n.7518C=
19g.38500717C>GCA405670192RYR1c.7435C>G (p.Leu2479Val)
c.7432C>G (p.Leu2478Val)
c.887C>G
n.7518C>G
gnomAD v4
19g.38500717C>TCA069628RYR1c.7435C>T (p.Leu2479=)
c.7432C>T (p.Leu2478=)
c.887C>T
n.7518C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38500718T>ACA405670193RYR1c.7436T>A (p.Leu2479Gln)
c.7433T>A (p.Leu2478Gln)
c.888T>A
n.7519T>A
19g.38500718T>CCA405670194RYR1c.7436T>C (p.Leu2479Pro)
c.7433T>C (p.Leu2478Pro)
c.888T>C
n.7519T>C
dbSNP gnomAD v4
19g.38500718T>GCA405670195RYR1c.7436T>G (p.Leu2479Arg)
c.7433T>G (p.Leu2478Arg)
c.888T>G
n.7519T>G
19g.38500718T=CA2335053391RYR1c.7436T= (p.Leu2479=)
c.7433T= (p.Leu2478=)
c.888T=
n.7519T=
19g.38500719G>ACA507353986RYR1c.7437G>A (p.Leu2479=)
c.7434G>A (p.Leu2478=)
c.889G>A
n.7520G>A
19g.38500719G>CCA507353987RYR1c.7437G>C (p.Leu2479=)
c.7434G>C (p.Leu2478=)
c.889G>C
n.7520G>C
19g.38500719G>TCA507353988RYR1c.7437G>T (p.Leu2479=)
c.7434G>T (p.Leu2478=)
c.889G>T
n.7520G>T
19g.38500720G>ACA069632RYR1c.7438G>A (p.Gly2480Ser)
c.7435G>A (p.Gly2479Ser)
c.890G>A
n.7521G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38500720G>CCA405670197RYR1c.7438G>C (p.Gly2480Arg)
c.7435G>C (p.Gly2479Arg)
c.890G>C
n.7521G>C
19g.38500720G=CA2335053392RYR1c.7438G= (p.Gly2480=)
c.7435G= (p.Gly2479=)
c.890G=
n.7521G=
19g.38500720G>TCA405670196RYR1c.7438G>T (p.Gly2480Cys)
c.7435G>T (p.Gly2479Cys)
c.890G>T
n.7521G>T
19g.38500721G>ACA405670198RYR1c.7439G>A (p.Gly2480Asp)
c.7436G>A (p.Gly2479Asp)
c.891G>A
n.7522G>A
19g.38500721G>CCA405670199RYR1c.7439G>C (p.Gly2480Ala)
c.7436G>C (p.Gly2479Ala)
c.891G>C
n.7522G>C
19g.38500721G>TCA405670200RYR1c.7439G>T (p.Gly2480Val)
c.7436G>T (p.Gly2479Val)
c.891G>T
n.7522G>T
19g.38500722C>ACA069636RYR1c.7440C>A (p.Gly2480=)
c.7437C>A (p.Gly2479=)
c.892C>A
n.7523C>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38500722C=CA2335053393RYR1c.7440C= (p.Gly2480=)
c.7437C= (p.Gly2479=)
c.892C=
n.7523C=
19g.38500722C>GCA507353989RYR1c.7440C>G (p.Gly2480=)
c.7437C>G (p.Gly2479=)
c.892C>G
n.7523C>G
19g.38500722C>TCA507353990RYR1c.7440C>T (p.Gly2480=)
c.7437C>T (p.Gly2479=)
c.892C>T
n.7523C>T
19g.38500723A>CCA405670201RYR1c.7441A>C (p.Lys2481Gln)
c.7438A>C (p.Lys2480Gln)
c.893A>C
n.7524A>C
19g.38500723A>GCA405670202RYR1c.7441A>G (p.Lys2481Glu)
c.7438A>G (p.Lys2480Glu)
c.893A>G
n.7524A>G
19g.38500723A>TCA405670203RYR1c.7441A>T (p.Lys2481Ter)
c.7438A>T (p.Lys2480Ter)
c.893A>T
n.7524A>T
19g.38500724A>CCA405670204RYR1c.7442A>C (p.Lys2481Thr)
c.7439A>C (p.Lys2480Thr)
c.894A>C
n.7525A>C
19g.38500724A>GCA405670205RYR1c.7442A>G (p.Lys2481Arg)
c.7439A>G (p.Lys2480Arg)
c.894A>G
n.7525A>G
ClinVar dbSNP gnomAD v4
19g.38500724A>TCA405670206RYR1c.7442A>T (p.Lys2481Ile)
c.7439A>T (p.Lys2480Ile)
c.894A>T
n.7525A>T
19g.38500725A=CA2335053394RYR1c.7443A= (p.Lys2481=)
c.7440A= (p.Lys2480=)
c.895A=
n.7526A=
19g.38500725A>CCA405670207RYR1c.7443A>C (p.Lys2481Asn)
c.7440A>C (p.Lys2480Asn)
c.895A>C
n.7526A>C
19g.38500725A>GCA507353991RYR1c.7443A>G (p.Lys2481=)
c.7440A>G (p.Lys2480=)
c.895A>G
n.7526A>G
19g.38500725A>TCA405670208RYR1c.7443A>T (p.Lys2481Asn)
c.7440A>T (p.Lys2480Asn)
c.895A>T
n.7526A>T
dbSNP
19g.38500726G>ACA069661RYR1c.7444G>A (p.Asp2482Asn)
c.7441G>A (p.Asp2481Asn)
c.896G>A
n.7527G>A
dbSNP ExAC gnomAD v2 gnomAD v4
19g.38500726G>CCA405670210RYR1c.7444G>C (p.Asp2482His)
c.7441G>C (p.Asp2481His)
c.896G>C
n.7527G>C
19g.38500726G=CA2335053395RYR1c.7444G= (p.Asp2482=)
c.7441G= (p.Asp2481=)
c.896G=
n.7527G=
19g.38500726G>TCA405670209RYR1c.7444G>T (p.Asp2482Tyr)
c.7441G>T (p.Asp2481Tyr)
c.896G>T
n.7527G>T
gnomAD v4
19g.38500727G>ACA405670211RYR1c.7444+1G>A (n.7444+1G>A)
c.7441+1G>A (n.7441+1G>A)
c.896+1G>A
n.7527+1G>A
19g.38500727G>CCA308110510RYR1c.7444+1G>C (n.7444+1G>C)
c.7441+1G>C (n.7441+1G>C)
c.896+1G>C
n.7527+1G>C
dbSNP gnomAD v3 gnomAD v4
19g.38500727G=CA2335053396RYR1c.7444+1G= (n.7444+1G=)
c.7441+1G= (n.7441+1G=)
c.896+1G=
n.7527+1G=
19g.38500727G>TCA405670212RYR1c.7444+1G>T (n.7444+1G>T)
c.7441+1G>T (n.7441+1G>T)
c.896+1G>T
n.7527+1G>T
19g.38500728T>ACA405670213RYR1c.7444+2T>A (n.7444+2T>A)
c.7441+2T>A (n.7441+2T>A)
c.896+2T>A
n.7527+2T>A
19g.38500728T>CCA405670214RYR1c.7444+2T>C (n.7444+2T>C)
c.7441+2T>C (n.7441+2T>C)
c.896+2T>C
n.7527+2T>C
ClinVar
19g.38500728T>GCA405670215RYR1c.7444+2T>G (n.7444+2T>G)
c.7441+2T>G (n.7441+2T>G)
c.896+2T>G
n.7527+2T>G
19g.38500730C=CA2335053397RYR1c.7444+4C= (n.7444+4C=)
c.7441+4C= (n.7441+4C=)
c.896+4C=
n.7527+4C=
19g.38500730C>TCA2335053398RYR1c.7444+4C>T (n.7444+4C>T)
c.7441+4C>T (n.7441+4C>T)
c.896+4C>T
n.7527+4C>T
dbSNP gnomAD v4
19g.38500731A=CA2335053399RYR1c.7444+5A= (n.7444+5A=)
c.7441+5A= (n.7441+5A=)
c.896+5A=
n.7527+5A=
19g.38500731A>GCA069654RYR1c.7444+5A>G (n.7444+5A>G)
c.7441+5A>G (n.7441+5A>G)
c.896+5A>G
n.7527+5A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38500734G>ACA308110530RYR1c.7444+8G>A (n.7444+8G>A)
c.7441+8G>A (n.7441+8G>A)
c.896+8G>A
n.7527+8G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38500734G>CCA2584900521RYR1c.7444+8G>C (n.7444+8G>C)
c.7441+8G>C (n.7441+8G>C)
c.896+8G>C
n.7527+8G>C
gnomAD v4
19g.38500734G=CA2335053400RYR1c.7444+8G= (n.7444+8G=)
c.7441+8G= (n.7441+8G=)
c.896+8G=
n.7527+8G=
19g.38500734G>TCA2584900522RYR1c.7444+8G>T (n.7444+8G>T)
c.7441+8G>T (n.7441+8G>T)
c.896+8G>T
n.7527+8G>T
gnomAD v4
19g.38500735G>ACA069656RYR1c.7444+9G>A (n.7444+9G>A)
c.7441+9G>A (n.7441+9G>A)
c.896+9G>A
n.7527+9G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38500735G=CA2335053401RYR1c.7444+9G= (n.7444+9G=)
c.7441+9G= (n.7441+9G=)
c.896+9G=
n.7527+9G=
19g.38500735G>TCA2573156343RYR1c.7444+9G>T (n.7444+9G>T)
c.7441+9G>T (n.7441+9G>T)
c.896+9G>T
n.7527+9G>T
ClinVar dbSNP
19g.38500736G>ACA2335053403RYR1c.7444+10G>A (n.7444+10G>A)
c.7441+10G>A (n.7441+10G>A)
c.896+10G>A
n.7527+10G>A
ClinVar dbSNP
19g.38500736G=CA2335053402RYR1c.7444+10G= (n.7444+10G=)
c.7441+10G= (n.7441+10G=)
c.896+10G=
n.7527+10G=
19g.38500736G>TCA2580610849RYR1c.7444+10G>T (n.7444+10G>T)
c.7441+10G>T (n.7441+10G>T)
c.896+10G>T
n.7527+10G>T
19g.38500737G>ACA2697556547RYR1c.7444+11G>A (n.7444+11G>A)
c.7441+11G>A (n.7441+11G>A)
c.896+11G>A
n.7527+11G>A
ClinVar
19g.38500738A>TCA2584900523RYR1c.7444+12A>T (n.7444+12A>T)
c.7441+12A>T (n.7441+12A>T)
c.896+12A>T
n.7527+12A>T
ClinVar gnomAD v4
19g.38500740G>ACA633066118RYR1c.7444+14G>A (n.7444+14G>A)
c.7441+14G>A (n.7441+14G>A)
c.896+14G>A
n.7527+14G>A
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38500740G=CA2335053404RYR1c.7444+14G= (n.7444+14G=)
c.7441+14G= (n.7441+14G=)
c.896+14G=
n.7527+14G=
19g.38500741G>ACA2584900524RYR1c.7444+15G>A (n.7444+15G>A)
c.7441+15G>A (n.7441+15G>A)
c.896+15G>A
n.7527+15G>A
gnomAD v4
19g.38500741G>TCA2814346330RYR1c.7444+15G>T (n.7444+15G>T)
c.7441+15G>T (n.7441+15G>T)
c.896+15G>T
n.7527+15G>T
19g.38500743A=CA2335053405RYR1c.7444+17A= (n.7444+17A=)
c.7441+17A= (n.7441+17A=)
c.896+17A=
n.7527+17A=
19g.38500743A>CCA633066119RYR1c.7444+17A>C (n.7444+17A>C)
c.7441+17A>C (n.7441+17A>C)
c.896+17A>C
n.7527+17A>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38500746T>GCA2584900525RYR1c.7444+20T>G (n.7444+20T>G)
c.7441+20T>G (n.7441+20T>G)
c.896+20T>G
n.7527+20T>G
gnomAD v4
19g.38500747G>ACA2584900526RYR1c.7444+21G>A (n.7444+21G>A)
c.7441+21G>A (n.7441+21G>A)
c.896+21G>A
n.7527+21G>A
gnomAD v4
19g.38500749C>ACA2335053407RYR1c.7444+23C>A (n.7444+23C>A)
c.7441+23C>A (n.7441+23C>A)
c.896+23C>A
n.7527+23C>A
dbSNP
19g.38500749C=CA2335053406RYR1c.7444+23C= (n.7444+23C=)
c.7441+23C= (n.7441+23C=)
c.896+23C=
n.7527+23C=
19g.38500749C>TCA633066120RYR1c.7444+23C>T (n.7444+23C>T)
c.7441+23C>T (n.7441+23C>T)
c.896+23C>T
n.7527+23C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38500750G>ACA069640RYR1c.7444+24G>A (n.7444+24G>A)
c.7441+24G>A (n.7441+24G>A)
c.896+24G>A
n.7527+24G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38500750G=CA2335053408RYR1c.7444+24G= (n.7444+24G=)
c.7441+24G= (n.7441+24G=)
c.896+24G=
n.7527+24G=
19g.38500753G>ACA2584900527RYR1c.7444+27G>A (n.7444+27G>A)
c.7441+27G>A (n.7441+27G>A)
c.896+27G>A
n.7527+27G>A
gnomAD v4
19g.38500754G>ACA995716140RYR1c.7444+28G>A (n.7444+28G>A)
c.7441+28G>A (n.7441+28G>A)
c.896+28G>A
n.7527+28G>A
dbSNP gnomAD v3 gnomAD v4
19g.38500754G>CCA2584900528RYR1c.7444+28G>C (n.7444+28G>C)
c.7441+28G>C (n.7441+28G>C)
c.896+28G>C
n.7527+28G>C
gnomAD v4
19g.38500754G=CA2335053409RYR1c.7444+28G= (n.7444+28G=)
c.7441+28G= (n.7441+28G=)
c.896+28G=
n.7527+28G=
19g.38500755A=CA2335053410RYR1c.7444+29A= (n.7444+29A=)
c.7441+29A= (n.7441+29A=)
c.896+29A=
n.7527+29A=
19g.38500755A>CCA633066121RYR1c.7444+29A>C (n.7444+29A>C)
c.7441+29A>C (n.7441+29A>C)
c.896+29A>C
n.7527+29A>C
dbSNP gnomAD v2 gnomAD v4
19g.38500755A>GCA069643RYR1c.7444+29A>G (n.7444+29A>G)
c.7441+29A>G (n.7441+29A>G)
c.896+29A>G
n.7527+29A>G
dbSNP ExAC gnomAD v2
19g.38500756G>ACA2335053412RYR1c.7444+30G>A (n.7444+30G>A)
c.7441+30G>A (n.7441+30G>A)
c.896+30G>A
n.7527+30G>A
dbSNP
19g.38500756G=CA2335053411RYR1c.7444+30G= (n.7444+30G=)
c.7441+30G= (n.7441+30G=)
c.896+30G=
n.7527+30G=
19g.38500757T>CCA2335053414RYR1c.7444+31T>C (n.7444+31T>C)
c.7441+31T>C (n.7441+31T>C)
c.896+31T>C
n.7527+31T>C
dbSNP
19g.38500757T>GCA2335053415RYR1c.7444+31T>G (n.7444+31T>G)
c.7441+31T>G (n.7441+31T>G)
c.896+31T>G
n.7527+31T>G
dbSNP
19g.38500757T=CA2335053413RYR1c.7444+31T= (n.7444+31T=)
c.7441+31T= (n.7441+31T=)
c.896+31T=
n.7527+31T=
19g.38500760T>GCA069646RYR1c.7444+34T>G (n.7444+34T>G)
c.7441+34T>G (n.7441+34T>G)
c.896+34T>G
n.7527+34T>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38500760T=CA2335053416RYR1c.7444+34T= (n.7444+34T=)
c.7441+34T= (n.7441+34T=)
c.896+34T=
n.7527+34T=
19g.38500761G>ACA2576770875RYR1c.7444+35G>A (n.7444+35G>A)
c.7441+35G>A (n.7441+35G>A)
c.896+35G>A
n.7527+35G>A
19g.38500761G>TCA2736030390RYR1c.7444+35G>T (n.7444+35G>T)
c.7441+35G>T (n.7441+35G>T)
c.896+35G>T
n.7527+35G>T
dbSNP
19g.38500762C>TCA2814346335RYR1c.7444+36C>T (n.7444+36C>T)
c.7441+36C>T (n.7441+36C>T)
c.896+36C>T
n.7527+36C>T
19g.38500763T>GCA2335053418RYR1c.7444+37T>G (n.7444+37T>G)
c.7441+37T>G (n.7441+37T>G)
c.896+37T>G
n.7527+37T>G
dbSNP gnomAD v4
19g.38500763T=CA2335053417RYR1c.7444+37T= (n.7444+37T=)
c.7441+37T= (n.7441+37T=)
c.896+37T=
n.7527+37T=
19g.38500764G>TCA2571420846RYR1c.7444+38G>T (n.7444+38G>T)
c.7441+38G>T (n.7441+38G>T)
c.896+38G>T
n.7527+38G>T
19g.38500765G>ACA2584900529RYR1c.7444+39G>A (n.7444+39G>A)
c.7441+39G>A (n.7441+39G>A)
c.896+39G>A
n.7527+39G>A
gnomAD v4
19g.38500765G>TCA2584900530RYR1c.7444+39G>T (n.7444+39G>T)
c.7441+39G>T (n.7441+39G>T)
c.896+39G>T
n.7527+39G>T
gnomAD v4
19g.38500766G>TCA2584900531RYR1c.7444+40G>T (n.7444+40G>T)
c.7441+40G>T (n.7441+40G>T)
c.896+40G>T
n.7527+40G>T
gnomAD v4
19g.38500767G>ACA633066122RYR1c.7444+41G>A (n.7444+41G>A)
c.7441+41G>A (n.7441+41G>A)
c.896+41G>A
n.7527+41G>A
dbSNP gnomAD v2 gnomAD v4
19g.38500767G=CA2335053419RYR1c.7444+41G= (n.7444+41G=)
c.7441+41G= (n.7441+41G=)
c.896+41G=
n.7527+41G=
19g.38500769G>ACA069650RYR1c.7444+43G>A (n.7444+43G>A)
c.7441+43G>A (n.7441+43G>A)
c.896+43G>A
n.7527+43G>A
dbSNP ExAC gnomAD v2
19g.38500769G=CA2335053420RYR1c.7444+43G= (n.7444+43G=)
c.7441+43G= (n.7441+43G=)
c.896+43G=
n.7527+43G=
19g.38500770G>CCA633066123RYR1c.7444+44G>C (n.7444+44G>C)
c.7441+44G>C (n.7441+44G>C)
c.896+44G>C
n.7527+44G>C
dbSNP gnomAD v2 gnomAD v4
19g.38500770G=CA2335053421RYR1c.7444+44G= (n.7444+44G=)
c.7441+44G= (n.7441+44G=)
c.896+44G=
n.7527+44G=

Number of alleles fetched