Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38584946T>ACA405690035RYR1c.1586T>A
c.2983T>A
c.2955T>A
n.43T>A
c.14650T>A (p.Tyr4884Asn)
c.14635T>A (p.Tyr4879Asn)
c.14632T>A (p.Tyr4878Asn)
c.14617T>A (p.Tyr4873Asn)
c.14647T>A (p.Tyr4883Asn)
c.14563T>A (p.Tyr4855Asn)
19g.38584946T>CCA405690038RYR1c.1586T>C
c.2983T>C
c.2955T>C
n.43T>C
c.14650T>C (p.Tyr4884His)
c.14635T>C (p.Tyr4879His)
c.14632T>C (p.Tyr4878His)
c.14617T>C (p.Tyr4873His)
c.14647T>C (p.Tyr4883His)
c.14563T>C (p.Tyr4855His)
 ClinVar dbSNP
19g.38584946T>GCA405690041RYR1c.1586T>G
c.2983T>G
c.2955T>G
n.43T>G
c.14650T>G (p.Tyr4884Asp)
c.14635T>G (p.Tyr4879Asp)
c.14632T>G (p.Tyr4878Asp)
c.14617T>G (p.Tyr4873Asp)
c.14647T>G (p.Tyr4883Asp)
c.14563T>G (p.Tyr4855Asp)
19g.38584947A>CCA405690044RYR1c.1587A>C
c.2984A>C
c.2956A>C
n.44A>C
c.14651A>C (p.Tyr4884Ser)
c.14636A>C (p.Tyr4879Ser)
c.14633A>C (p.Tyr4878Ser)
c.14618A>C (p.Tyr4873Ser)
c.14648A>C (p.Tyr4883Ser)
c.14564A>C (p.Tyr4855Ser)
19g.38584947A>GCA405690045RYR1c.1587A>G
c.2984A>G
c.2956A>G
n.44A>G
c.14651A>G (p.Tyr4884Cys)
c.14636A>G (p.Tyr4879Cys)
c.14633A>G (p.Tyr4878Cys)
c.14618A>G (p.Tyr4873Cys)
c.14648A>G (p.Tyr4883Cys)
c.14564A>G (p.Tyr4855Cys)
19g.38584947A>TCA405690049RYR1c.1587A>T
c.2984A>T
c.2956A>T
n.44A>T
c.14651A>T (p.Tyr4884Phe)
c.14636A>T (p.Tyr4879Phe)
c.14633A>T (p.Tyr4878Phe)
c.14618A>T (p.Tyr4873Phe)
c.14648A>T (p.Tyr4883Phe)
c.14564A>T (p.Tyr4855Phe)
19g.38584948C>ACA405690050RYR1c.1588C>A
c.2985C>A
c.2957C>A
n.45C>A
c.14652C>A (p.Tyr4884Ter)
c.14637C>A (p.Tyr4879Ter)
c.14634C>A (p.Tyr4878Ter)
c.14619C>A (p.Tyr4873Ter)
c.14649C>A (p.Tyr4883Ter)
c.14565C>A (p.Tyr4855Ter)
19g.38584948C>GCA405690051RYR1c.1588C>G
c.2985C>G
c.2957C>G
n.45C>G
c.14652C>G (p.Tyr4884Ter)
c.14637C>G (p.Tyr4879Ter)
c.14634C>G (p.Tyr4878Ter)
c.14619C>G (p.Tyr4873Ter)
c.14649C>G (p.Tyr4883Ter)
c.14565C>G (p.Tyr4855Ter)
 gnomAD v4
19g.38584948C>TCA507246300RYR1c.1588C>T
c.2985C>T
c.2957C>T
n.45C>T
c.14652C>T (p.Tyr4884=)
c.14637C>T (p.Tyr4879=)
c.14634C>T (p.Tyr4878=)
c.14619C>T (p.Tyr4873=)
c.14649C>T (p.Tyr4883=)
c.14565C>T (p.Tyr4855=)
 ClinVar gnomAD v4
19g.38584949C>ACA405690053RYR1c.1589C>A
c.2986C>A
c.2958C>A
n.46C>A
c.14653C>A (p.Leu4885Met)
c.14638C>A (p.Leu4880Met)
c.14635C>A (p.Leu4879Met)
c.14620C>A (p.Leu4874Met)
c.14650C>A (p.Leu4884Met)
c.14566C>A (p.Leu4856Met)
19g.38584949C=CA2335094927RYR1c.1589C=
c.2986C=
c.2958C=
n.46C=
c.14653C= (p.Leu4885=)
c.14638C= (p.Leu4880=)
c.14635C= (p.Leu4879=)
c.14620C= (p.Leu4874=)
c.14650C= (p.Leu4884=)
c.14566C= (p.Leu4856=)
19g.38584949C>GCA405690052RYR1c.1589C>G
c.2986C>G
c.2958C>G
n.46C>G
c.14653C>G (p.Leu4885Val)
c.14638C>G (p.Leu4880Val)
c.14635C>G (p.Leu4879Val)
c.14620C>G (p.Leu4874Val)
c.14650C>G (p.Leu4884Val)
c.14566C>G (p.Leu4856Val)
 gnomAD v4
19g.38584949C>TCA061500RYR1c.1589C>T
c.2986C>T
c.2958C>T
n.46C>T
c.14653C>T (p.Leu4885=)
c.14638C>T (p.Leu4880=)
c.14635C>T (p.Leu4879=)
c.14620C>T (p.Leu4874=)
c.14650C>T (p.Leu4884=)
c.14566C>T (p.Leu4856=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38584950T>ACA405690058RYR1c.1590T>A
c.2987T>A
c.2959T>A
n.47T>A
c.14654T>A (p.Leu4885Gln)
c.14639T>A (p.Leu4880Gln)
c.14636T>A (p.Leu4879Gln)
c.14621T>A (p.Leu4874Gln)
c.14651T>A (p.Leu4884Gln)
c.14567T>A (p.Leu4856Gln)
19g.38584950T>CCA405690066RYR1c.1590T>C
c.2987T>C
c.2959T>C
n.47T>C
c.14654T>C (p.Leu4885Pro)
c.14639T>C (p.Leu4880Pro)
c.14636T>C (p.Leu4879Pro)
c.14621T>C (p.Leu4874Pro)
c.14651T>C (p.Leu4884Pro)
c.14567T>C (p.Leu4856Pro)
19g.38584950T>GCA405690070RYR1c.1590T>G
c.2987T>G
c.2959T>G
n.47T>G
c.14654T>G (p.Leu4885Arg)
c.14639T>G (p.Leu4880Arg)
c.14636T>G (p.Leu4879Arg)
c.14621T>G (p.Leu4874Arg)
c.14651T>G (p.Leu4884Arg)
c.14567T>G (p.Leu4856Arg)
19g.38584951G>ACA507246304RYR1c.1591G>A
c.2988G>A
c.2960G>A
n.48G>A
c.14655G>A (p.Leu4885=)
c.14640G>A (p.Leu4880=)
c.14637G>A (p.Leu4879=)
c.14622G>A (p.Leu4874=)
c.14652G>A (p.Leu4884=)
c.14568G>A (p.Leu4856=)
19g.38584951G>CCA507246306RYR1c.1591G>C
c.2988G>C
c.2960G>C
n.48G>C
c.14655G>C (p.Leu4885=)
c.14640G>C (p.Leu4880=)
c.14637G>C (p.Leu4879=)
c.14622G>C (p.Leu4874=)
c.14652G>C (p.Leu4884=)
c.14568G>C (p.Leu4856=)
 COSMIC
19g.38584951G>TCA507246305RYR1c.1591G>T
c.2988G>T
c.2960G>T
n.48G>T
c.14655G>T (p.Leu4885=)
c.14640G>T (p.Leu4880=)
c.14637G>T (p.Leu4879=)
c.14622G>T (p.Leu4874=)
c.14652G>T (p.Leu4884=)
c.14568G>T (p.Leu4856=)
19g.38584952T>ACA405690073RYR1c.1592T>A
c.2989T>A
c.2961T>A
n.49T>A
c.14656T>A (p.Phe4886Ile)
c.14641T>A (p.Phe4881Ile)
c.14638T>A (p.Phe4880Ile)
c.14623T>A (p.Phe4875Ile)
c.14653T>A (p.Phe4885Ile)
c.14569T>A (p.Phe4857Ile)
19g.38584952T>CCA405690076RYR1c.1592T>C
c.2989T>C
c.2961T>C
n.49T>C
c.14656T>C (p.Phe4886Leu)
c.14641T>C (p.Phe4881Leu)
c.14638T>C (p.Phe4880Leu)
c.14623T>C (p.Phe4875Leu)
c.14653T>C (p.Phe4885Leu)
c.14569T>C (p.Phe4857Leu)
19g.38584952T>GCA405690084RYR1c.1592T>G
c.2989T>G
c.2961T>G
n.49T>G
c.14656T>G (p.Phe4886Val)
c.14641T>G (p.Phe4881Val)
c.14638T>G (p.Phe4880Val)
c.14623T>G (p.Phe4875Val)
c.14653T>G (p.Phe4885Val)
c.14569T>G (p.Phe4857Val)
19g.38584953T>ACA405690087RYR1c.1593T>A
c.2990T>A
c.2962T>A
n.50T>A
c.14657T>A (p.Phe4886Tyr)
c.14642T>A (p.Phe4881Tyr)
c.14639T>A (p.Phe4880Tyr)
c.14624T>A (p.Phe4875Tyr)
c.14654T>A (p.Phe4885Tyr)
c.14570T>A (p.Phe4857Tyr)
19g.38584953T>CCA405690091RYR1c.1593T>C
c.2990T>C
c.2962T>C
n.50T>C
c.14657T>C (p.Phe4886Ser)
c.14642T>C (p.Phe4881Ser)
c.14639T>C (p.Phe4880Ser)
c.14624T>C (p.Phe4875Ser)
c.14654T>C (p.Phe4885Ser)
c.14570T>C (p.Phe4857Ser)
19g.38584953T>GCA405690093RYR1c.1593T>G
c.2990T>G
c.2962T>G
n.50T>G
c.14657T>G (p.Phe4886Cys)
c.14642T>G (p.Phe4881Cys)
c.14639T>G (p.Phe4880Cys)
c.14624T>G (p.Phe4875Cys)
c.14654T>G (p.Phe4885Cys)
c.14570T>G (p.Phe4857Cys)
19g.38584954T>ACA405690098RYR1c.1594T>A
c.2991T>A
c.2963T>A
n.51T>A
c.14658T>A (p.Phe4886Leu)
c.14643T>A (p.Phe4881Leu)
c.14640T>A (p.Phe4880Leu)
c.14625T>A (p.Phe4875Leu)
c.14655T>A (p.Phe4885Leu)
c.14571T>A (p.Phe4857Leu)
19g.38584954T>CCA308125432RYR1c.1594T>C
c.2991T>C
c.2963T>C
n.51T>C
c.14658T>C (p.Phe4886=)
c.14643T>C (p.Phe4881=)
c.14640T>C (p.Phe4880=)
c.14625T>C (p.Phe4875=)
c.14655T>C (p.Phe4885=)
c.14571T>C (p.Phe4857=)
 ClinVar dbSNP gnomAD v4
19g.38584954T>GCA405690100RYR1c.1594T>G
c.2991T>G
c.2963T>G
n.51T>G
c.14658T>G (p.Phe4886Leu)
c.14643T>G (p.Phe4881Leu)
c.14640T>G (p.Phe4880Leu)
c.14625T>G (p.Phe4875Leu)
c.14655T>G (p.Phe4885Leu)
c.14571T>G (p.Phe4857Leu)
19g.38584954T=CA2335094928RYR1c.1594T=
c.2991T=
c.2963T=
n.51T=
c.14658T= (p.Phe4886=)
c.14643T= (p.Phe4881=)
c.14640T= (p.Phe4880=)
c.14625T= (p.Phe4875=)
c.14655T= (p.Phe4885=)
c.14571T= (p.Phe4857=)
19g.38584955C>ACA405690105RYR1c.1595C>A
c.2992C>A
c.2964C>A
n.52C>A
c.14659C>A (p.His4887Asn)
c.14644C>A (p.His4882Asn)
c.14641C>A (p.His4881Asn)
c.14626C>A (p.His4876Asn)
c.14656C>A (p.His4886Asn)
c.14572C>A (p.His4858Asn)
19g.38584955C=CA2335094929RYR1c.1595C=
c.2992C=
c.2964C=
n.52C=
c.14659C= (p.His4887=)
c.14644C= (p.His4882=)
c.14641C= (p.His4881=)
c.14626C= (p.His4876=)
c.14656C= (p.His4886=)
c.14572C= (p.His4858=)
19g.38584955C>GCA405690108RYR1c.1595C>G
c.2992C>G
c.2964C>G
n.52C>G
c.14659C>G (p.His4887Asp)
c.14644C>G (p.His4882Asp)
c.14641C>G (p.His4881Asp)
c.14626C>G (p.His4876Asp)
c.14656C>G (p.His4886Asp)
c.14572C>G (p.His4858Asp)
 dbSNP
19g.38584955C>TCA024212RYR1c.1595C>T
c.2992C>T
c.2964C>T
n.52C>T
c.14659C>T (p.His4887Tyr)
c.14644C>T (p.His4882Tyr)
c.14641C>T (p.His4881Tyr)
c.14626C>T (p.His4876Tyr)
c.14656C>T (p.His4886Tyr)
c.14572C>T (p.His4858Tyr)
 ClinVar dbSNP gnomAD v2
19g.38584956A=CA2335094930RYR1c.1596A=
c.2993A=
c.2965A=
n.53A=
c.14660A= (p.His4887=)
c.14645A= (p.His4882=)
c.14642A= (p.His4881=)
c.14627A= (p.His4876=)
c.14657A= (p.His4886=)
c.14573A= (p.His4858=)
19g.38584956A>CCA405690112RYR1c.1596A>C
c.2993A>C
c.2965A>C
n.53A>C
c.14660A>C (p.His4887Pro)
c.14645A>C (p.His4882Pro)
c.14642A>C (p.His4881Pro)
c.14627A>C (p.His4876Pro)
c.14657A>C (p.His4886Pro)
c.14573A>C (p.His4858Pro)
19g.38584956A>GCA405690116RYR1c.1596A>G
c.2993A>G
c.2965A>G
n.53A>G
c.14660A>G (p.His4887Arg)
c.14645A>G (p.His4882Arg)
c.14642A>G (p.His4881Arg)
c.14627A>G (p.His4876Arg)
c.14657A>G (p.His4886Arg)
c.14573A>G (p.His4858Arg)
19g.38584956A>TCA405690118RYR1c.1596A>T
c.2993A>T
c.2965A>T
n.53A>T
c.14660A>T (p.His4887Leu)
c.14645A>T (p.His4882Leu)
c.14642A>T (p.His4881Leu)
c.14627A>T (p.His4876Leu)
c.14657A>T (p.His4886Leu)
c.14573A>T (p.His4858Leu)
 ClinVar dbSNP
19g.38584957C>ACA081274RYR1c.1597C>A
c.2994C>A
c.2966C>A
n.54C>A
c.14661C>A (p.His4887Gln)
c.14646C>A (p.His4882Gln)
c.14643C>A (p.His4881Gln)
c.14628C>A (p.His4876Gln)
c.14658C>A (p.His4886Gln)
c.14574C>A (p.His4858Gln)
19g.38584957C>GCA405690125RYR1c.1597C>G
c.2994C>G
c.2966C>G
n.54C>G
c.14661C>G (p.His4887Gln)
c.14646C>G (p.His4882Gln)
c.14643C>G (p.His4881Gln)
c.14628C>G (p.His4876Gln)
c.14658C>G (p.His4886Gln)
c.14574C>G (p.His4858Gln)
19g.38584957C>TCA081275RYR1c.1597C>T
c.2994C>T
c.2966C>T
n.54C>T
c.14661C>T (p.His4887=)
c.14646C>T (p.His4882=)
c.14643C>T (p.His4881=)
c.14628C>T (p.His4876=)
c.14658C>T (p.His4886=)
c.14574C>T (p.His4858=)
19g.38584958A=CA2335094931RYR1c.1598A=
c.2995A=
c.2967A=
n.55A=
c.14662A= (p.Met4888=)
c.14647A= (p.Met4883=)
c.14644A= (p.Met4882=)
c.14629A= (p.Met4877=)
c.14659A= (p.Met4887=)
c.14575A= (p.Met4859=)
19g.38584958A>CCA405690134RYR1c.1598A>C
c.2995A>C
c.2967A>C
n.55A>C
c.14662A>C (p.Met4888Leu)
c.14647A>C (p.Met4883Leu)
c.14644A>C (p.Met4882Leu)
c.14629A>C (p.Met4877Leu)
c.14659A>C (p.Met4887Leu)
c.14575A>C (p.Met4859Leu)
19g.38584958A>GCA405690133RYR1c.1598A>G
c.2995A>G
c.2967A>G
n.55A>G
c.14662A>G (p.Met4888Val)
c.14647A>G (p.Met4883Val)
c.14644A>G (p.Met4882Val)
c.14629A>G (p.Met4877Val)
c.14659A>G (p.Met4887Val)
c.14575A>G (p.Met4859Val)
 ClinVar dbSNP
19g.38584958A>TCA405690131RYR1c.1598A>T
c.2995A>T
c.2967A>T
n.55A>T
c.14662A>T (p.Met4888Leu)
c.14647A>T (p.Met4883Leu)
c.14644A>T (p.Met4882Leu)
c.14629A>T (p.Met4877Leu)
c.14659A>T (p.Met4887Leu)
c.14575A>T (p.Met4859Leu)
19g.38584959T>ACA405690137RYR1c.1599T>A
c.2996T>A
c.2968T>A
n.56T>A
c.14663T>A (p.Met4888Lys)
c.14648T>A (p.Met4883Lys)
c.14645T>A (p.Met4882Lys)
c.14630T>A (p.Met4877Lys)
c.14660T>A (p.Met4887Lys)
c.14576T>A (p.Met4859Lys)
19g.38584959T>CCA405690140RYR1c.1599T>C
c.2996T>C
c.2968T>C
n.56T>C
c.14663T>C (p.Met4888Thr)
c.14648T>C (p.Met4883Thr)
c.14645T>C (p.Met4882Thr)
c.14630T>C (p.Met4877Thr)
c.14660T>C (p.Met4887Thr)
c.14576T>C (p.Met4859Thr)
19g.38584959T>GCA405690142RYR1c.1599T>G
c.2996T>G
c.2968T>G
n.56T>G
c.14663T>G (p.Met4888Arg)
c.14648T>G (p.Met4883Arg)
c.14645T>G (p.Met4882Arg)
c.14630T>G (p.Met4877Arg)
c.14660T>G (p.Met4887Arg)
c.14576T>G (p.Met4859Arg)
19g.38584960G>ACA405690146RYR1c.1600G>A
c.2997G>A
c.2969G>A
n.57G>A
c.14664G>A (p.Met4888Ile)
c.14649G>A (p.Met4883Ile)
c.14646G>A (p.Met4882Ile)
c.14631G>A (p.Met4877Ile)
c.14661G>A (p.Met4887Ile)
c.14577G>A (p.Met4859Ile)
19g.38584960G>CCA405690151RYR1c.1600G>C
c.2997G>C
c.2969G>C
n.57G>C
c.14664G>C (p.Met4888Ile)
c.14649G>C (p.Met4883Ile)
c.14646G>C (p.Met4882Ile)
c.14631G>C (p.Met4877Ile)
c.14661G>C (p.Met4887Ile)
c.14577G>C (p.Met4859Ile)
19g.38584960G>TCA405690153RYR1c.1600G>T
c.2997G>T
c.2969G>T
n.57G>T
c.14664G>T (p.Met4888Ile)
c.14649G>T (p.Met4883Ile)
c.14646G>T (p.Met4882Ile)
c.14631G>T (p.Met4877Ile)
c.14661G>T (p.Met4887Ile)
c.14577G>T (p.Met4859Ile)
19g.38584961T>ACA405690167RYR1c.1601T>A
c.2998T>A
c.2970T>A
n.58T>A
c.14665T>A (p.Tyr4889Asn)
c.14650T>A (p.Tyr4884Asn)
c.14647T>A (p.Tyr4883Asn)
c.14632T>A (p.Tyr4878Asn)
c.14662T>A (p.Tyr4888Asn)
c.14578T>A (p.Tyr4860Asn)
19g.38584961T>CCA405690173RYR1c.1601T>C
c.2998T>C
c.2970T>C
n.58T>C
c.14665T>C (p.Tyr4889His)
c.14650T>C (p.Tyr4884His)
c.14647T>C (p.Tyr4883His)
c.14632T>C (p.Tyr4878His)
c.14662T>C (p.Tyr4888His)
c.14578T>C (p.Tyr4860His)
19g.38584961T>GCA405690171RYR1c.1601T>G
c.2998T>G
c.2970T>G
n.58T>G
c.14665T>G (p.Tyr4889Asp)
c.14650T>G (p.Tyr4884Asp)
c.14647T>G (p.Tyr4883Asp)
c.14632T>G (p.Tyr4878Asp)
c.14662T>G (p.Tyr4888Asp)
c.14578T>G (p.Tyr4860Asp)
19g.38584962A>CCA405690179RYR1c.1602A>C
c.2999A>C
c.2971A>C
n.59A>C
c.14666A>C (p.Tyr4889Ser)
c.14651A>C (p.Tyr4884Ser)
c.14648A>C (p.Tyr4883Ser)
c.14633A>C (p.Tyr4878Ser)
c.14663A>C (p.Tyr4888Ser)
c.14579A>C (p.Tyr4860Ser)
19g.38584962A>GCA405690182RYR1c.1602A>G
c.2999A>G
c.2971A>G
n.59A>G
c.14666A>G (p.Tyr4889Cys)
c.14651A>G (p.Tyr4884Cys)
c.14648A>G (p.Tyr4883Cys)
c.14633A>G (p.Tyr4878Cys)
c.14663A>G (p.Tyr4888Cys)
c.14579A>G (p.Tyr4860Cys)
19g.38584962A>TCA405690184RYR1c.1602A>T
c.2999A>T
c.2971A>T
n.59A>T
c.14666A>T (p.Tyr4889Phe)
c.14651A>T (p.Tyr4884Phe)
c.14648A>T (p.Tyr4883Phe)
c.14633A>T (p.Tyr4878Phe)
c.14663A>T (p.Tyr4888Phe)
c.14579A>T (p.Tyr4860Phe)
19g.38584963C>ACA405690192RYR1c.1603C>A
c.3000C>A
c.2972C>A
n.60C>A
c.14667C>A (p.Tyr4889Ter)
c.14652C>A (p.Tyr4884Ter)
c.14649C>A (p.Tyr4883Ter)
c.14634C>A (p.Tyr4878Ter)
c.14664C>A (p.Tyr4888Ter)
c.14580C>A (p.Tyr4860Ter)
 ClinVar dbSNP gnomAD v4
19g.38584963C=CA2335094932RYR1c.1603C=
c.3000C=
c.2972C=
n.60C=
c.14667C= (p.Tyr4889=)
c.14652C= (p.Tyr4884=)
c.14649C= (p.Tyr4883=)
c.14634C= (p.Tyr4878=)
c.14664C= (p.Tyr4888=)
c.14580C= (p.Tyr4860=)
19g.38584963C>GCA024213RYR1c.1603C>G
c.3000C>G
c.2972C>G
n.60C>G
c.14667C>G (p.Tyr4889Ter)
c.14652C>G (p.Tyr4884Ter)
c.14649C>G (p.Tyr4883Ter)
c.14634C>G (p.Tyr4878Ter)
c.14664C>G (p.Tyr4888Ter)
c.14580C>G (p.Tyr4860Ter)
 ClinVar dbSNP
19g.38584963C>TCA061506RYR1c.1603C>T
c.3000C>T
c.2972C>T
n.60C>T
c.14667C>T (p.Tyr4889=)
c.14652C>T (p.Tyr4884=)
c.14649C>T (p.Tyr4883=)
c.14634C>T (p.Tyr4878=)
c.14664C>T (p.Tyr4888=)
c.14580C>T (p.Tyr4860=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38584964G>ACA405690210RYR1c.1604G>A
c.3001G>A
c.2973G>A
n.61G>A
c.14668G>A (p.Val4890Met)
c.14653G>A (p.Val4885Met)
c.14650G>A (p.Val4884Met)
c.14635G>A (p.Val4879Met)
c.14665G>A (p.Val4889Met)
c.14581G>A (p.Val4861Met)
 ClinVar dbSNP gnomAD v4
19g.38584964G>CCA405690211RYR1c.1604G>C
c.3001G>C
c.2973G>C
n.61G>C
c.14668G>C (p.Val4890Leu)
c.14653G>C (p.Val4885Leu)
c.14650G>C (p.Val4884Leu)
c.14635G>C (p.Val4879Leu)
c.14665G>C (p.Val4889Leu)
c.14581G>C (p.Val4861Leu)
19g.38584964G=CA2335094933RYR1c.1604G=
c.3001G=
c.2973G=
n.61G=
c.14668G= (p.Val4890=)
c.14653G= (p.Val4885=)
c.14650G= (p.Val4884=)
c.14635G= (p.Val4879=)
c.14665G= (p.Val4889=)
c.14581G= (p.Val4861=)
19g.38584964G>TCA405690212RYR1c.1604G>T
c.3001G>T
c.2973G>T
n.61G>T
c.14668G>T (p.Val4890Leu)
c.14653G>T (p.Val4885Leu)
c.14650G>T (p.Val4884Leu)
c.14635G>T (p.Val4879Leu)
c.14665G>T (p.Val4889Leu)
c.14581G>T (p.Val4861Leu)
19g.38584965T>ACA405690213RYR1c.1605T>A
c.3002T>A
c.2974T>A
n.62T>A
c.14669T>A (p.Val4890Glu)
c.14654T>A (p.Val4885Glu)
c.14651T>A (p.Val4884Glu)
c.14636T>A (p.Val4879Glu)
c.14666T>A (p.Val4889Glu)
c.14582T>A (p.Val4861Glu)
19g.38584965T>CCA405690215RYR1c.1605T>C
c.3002T>C
c.2974T>C
n.62T>C
c.14669T>C (p.Val4890Ala)
c.14654T>C (p.Val4885Ala)
c.14651T>C (p.Val4884Ala)
c.14636T>C (p.Val4879Ala)
c.14666T>C (p.Val4889Ala)
c.14582T>C (p.Val4861Ala)
19g.38584965T>GCA405690218RYR1c.1605T>G
c.3002T>G
c.2974T>G
n.62T>G
c.14669T>G (p.Val4890Gly)
c.14654T>G (p.Val4885Gly)
c.14651T>G (p.Val4884Gly)
c.14636T>G (p.Val4879Gly)
c.14666T>G (p.Val4889Gly)
c.14582T>G (p.Val4861Gly)
19g.38584966G>ACA507246313RYR1c.1606G>A
c.3003G>A
c.2975G>A
n.63G>A
c.14670G>A (p.Val4890=)
c.14655G>A (p.Val4885=)
c.14652G>A (p.Val4884=)
c.14637G>A (p.Val4879=)
c.14667G>A (p.Val4889=)
c.14583G>A (p.Val4861=)
19g.38584966G>CCA061510RYR1c.1606G>C
c.3003G>C
c.2975G>C
n.63G>C
c.14670G>C (p.Val4890=)
c.14655G>C (p.Val4885=)
c.14652G>C (p.Val4884=)
c.14637G>C (p.Val4879=)
c.14667G>C (p.Val4889=)
c.14583G>C (p.Val4861=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38584966G=CA2335094934RYR1c.1606G=
c.3003G=
c.2975G=
n.63G=
c.14670G= (p.Val4890=)
c.14655G= (p.Val4885=)
c.14652G= (p.Val4884=)
c.14637G= (p.Val4879=)
c.14667G= (p.Val4889=)
c.14583G= (p.Val4861=)
19g.38584966G>TCA507246314RYR1c.1606G>T
c.3003G>T
c.2975G>T
n.63G>T
c.14670G>T (p.Val4890=)
c.14655G>T (p.Val4885=)
c.14652G>T (p.Val4884=)
c.14637G>T (p.Val4879=)
c.14667G>T (p.Val4889=)
c.14583G>T (p.Val4861=)
 COSMIC
19g.38584967G>ACA405690221RYR1c.1607G>A
c.3004G>A
c.2976G>A
n.64G>A
c.14671G>A (p.Gly4891Ser)
c.14656G>A (p.Gly4886Ser)
c.14653G>A (p.Gly4885Ser)
c.14638G>A (p.Gly4880Ser)
c.14668G>A (p.Gly4890Ser)
c.14584G>A (p.Gly4862Ser)
19g.38584967G>CCA024215RYR1c.1607G>C
c.3004G>C
c.2976G>C
n.64G>C
c.14671G>C (p.Gly4891Arg)
c.14656G>C (p.Gly4886Arg)
c.14653G>C (p.Gly4885Arg)
c.14638G>C (p.Gly4880Arg)
c.14668G>C (p.Gly4890Arg)
c.14584G>C (p.Gly4862Arg)
 ClinVar dbSNP
19g.38584967G=CA2335094935RYR1c.1607G=
c.3004G=
c.2976G=
n.64G=
c.14671G= (p.Gly4891=)
c.14656G= (p.Gly4886=)
c.14653G= (p.Gly4885=)
c.14638G= (p.Gly4880=)
c.14668G= (p.Gly4890=)
c.14584G= (p.Gly4862=)
19g.38584967G>TCA405690223RYR1c.1607G>T
c.3004G>T
c.2976G>T
n.64G>T
c.14671G>T (p.Gly4891Cys)
c.14656G>T (p.Gly4886Cys)
c.14653G>T (p.Gly4885Cys)
c.14638G>T (p.Gly4880Cys)
c.14668G>T (p.Gly4890Cys)
c.14584G>T (p.Gly4862Cys)
19g.38584968G>ACA024218RYR1c.1608G>A
c.3005G>A
c.2977G>A
n.65G>A
c.14672G>A (p.Gly4891Asp)
c.14657G>A (p.Gly4886Asp)
c.14654G>A (p.Gly4885Asp)
c.14639G>A (p.Gly4880Asp)
c.14669G>A (p.Gly4890Asp)
c.14585G>A (p.Gly4862Asp)
 ClinVar dbSNP
19g.38584968G>CCA405690230RYR1c.1608G>C
c.3005G>C
c.2977G>C
n.65G>C
c.14672G>C (p.Gly4891Ala)
c.14657G>C (p.Gly4886Ala)
c.14654G>C (p.Gly4885Ala)
c.14639G>C (p.Gly4880Ala)
c.14669G>C (p.Gly4890Ala)
c.14585G>C (p.Gly4862Ala)
19g.38584968G=CA2335094936RYR1c.1608G=
c.3005G=
c.2977G=
n.65G=
c.14672G= (p.Gly4891=)
c.14657G= (p.Gly4886=)
c.14654G= (p.Gly4885=)
c.14639G= (p.Gly4880=)
c.14669G= (p.Gly4890=)
c.14585G= (p.Gly4862=)
19g.38584968G>TCA405690233RYR1c.1608G>T
c.3005G>T
c.2977G>T
n.65G>T
c.14672G>T (p.Gly4891Val)
c.14657G>T (p.Gly4886Val)
c.14654G>T (p.Gly4885Val)
c.14639G>T (p.Gly4880Val)
c.14669G>T (p.Gly4890Val)
c.14585G>T (p.Gly4862Val)
19g.38584969T>ACA507246316RYR1c.1609T>A
c.3006T>A
c.2978T>A
n.66T>A
c.14673T>A (p.Gly4891=)
c.14658T>A (p.Gly4886=)
c.14655T>A (p.Gly4885=)
c.14640T>A (p.Gly4880=)
c.14670T>A (p.Gly4890=)
c.14586T>A (p.Gly4862=)
19g.38584969T>CCA507246317RYR1c.1609T>C
c.3006T>C
c.2978T>C
n.66T>C
c.14673T>C (p.Gly4891=)
c.14658T>C (p.Gly4886=)
c.14655T>C (p.Gly4885=)
c.14640T>C (p.Gly4880=)
c.14670T>C (p.Gly4890=)
c.14586T>C (p.Gly4862=)
19g.38584969T>GCA507246318RYR1c.1609T>G
c.3006T>G
c.2978T>G
n.66T>G
c.14673T>G (p.Gly4891=)
c.14658T>G (p.Gly4886=)
c.14655T>G (p.Gly4885=)
c.14640T>G (p.Gly4880=)
c.14670T>G (p.Gly4890=)
c.14586T>G (p.Gly4862=)
 dbSNP
19g.38584969T=CA2335094937RYR1c.1609T=
c.3006T=
c.2978T=
n.66T=
c.14673T= (p.Gly4891=)
c.14658T= (p.Gly4886=)
c.14655T= (p.Gly4885=)
c.14640T= (p.Gly4880=)
c.14670T= (p.Gly4890=)
c.14586T= (p.Gly4862=)
19g.38584970G>ACA405690237RYR1c.1610G>A
c.3007G>A
c.2979G>A
n.67G>A
c.14674G>A (p.Val4892Ile)
c.14659G>A (p.Val4887Ile)
c.14656G>A (p.Val4886Ile)
c.14641G>A (p.Val4881Ile)
c.14671G>A (p.Val4891Ile)
c.14587G>A (p.Val4863Ile)
19g.38584970G>CCA405690239RYR1c.1610G>C
c.3007G>C
c.2979G>C
n.67G>C
c.14674G>C (p.Val4892Leu)
c.14659G>C (p.Val4887Leu)
c.14656G>C (p.Val4886Leu)
c.14641G>C (p.Val4881Leu)
c.14671G>C (p.Val4891Leu)
c.14587G>C (p.Val4863Leu)
19g.38584970G>TCA405690242RYR1c.1610G>T
c.3007G>T
c.2979G>T
n.67G>T
c.14674G>T (p.Val4892Phe)
c.14659G>T (p.Val4887Phe)
c.14656G>T (p.Val4886Phe)
c.14641G>T (p.Val4881Phe)
c.14671G>T (p.Val4891Phe)
c.14587G>T (p.Val4863Phe)
19g.38584971T>ACA405690245RYR1c.1611T>A
c.3008T>A
c.2980T>A
n.68T>A
c.14675T>A (p.Val4892Asp)
c.14660T>A (p.Val4887Asp)
c.14657T>A (p.Val4886Asp)
c.14642T>A (p.Val4881Asp)
c.14672T>A (p.Val4891Asp)
c.14588T>A (p.Val4863Asp)
19g.38584971T>CCA405690243RYR1c.1611T>C
c.3008T>C
c.2980T>C
n.68T>C
c.14675T>C (p.Val4892Ala)
c.14660T>C (p.Val4887Ala)
c.14657T>C (p.Val4886Ala)
c.14642T>C (p.Val4881Ala)
c.14672T>C (p.Val4891Ala)
c.14588T>C (p.Val4863Ala)
19g.38584971T>GCA405690244RYR1c.1611T>G
c.3008T>G
c.2980T>G
n.68T>G
c.14675T>G (p.Val4892Gly)
c.14660T>G (p.Val4887Gly)
c.14657T>G (p.Val4886Gly)
c.14642T>G (p.Val4881Gly)
c.14672T>G (p.Val4891Gly)
c.14588T>G (p.Val4863Gly)
19g.38584972C>ACA507246320RYR1c.1612C>A
c.3009C>A
c.2981C>A
n.69C>A
c.14676C>A (p.Val4892=)
c.14661C>A (p.Val4887=)
c.14658C>A (p.Val4886=)
c.14643C>A (p.Val4881=)
c.14673C>A (p.Val4891=)
c.14589C>A (p.Val4863=)
19g.38584972C>GCA507246321RYR1c.1612C>G
c.3009C>G
c.2981C>G
n.69C>G
c.14676C>G (p.Val4892=)
c.14661C>G (p.Val4887=)
c.14658C>G (p.Val4886=)
c.14643C>G (p.Val4881=)
c.14673C>G (p.Val4891=)
c.14589C>G (p.Val4863=)
19g.38584972C>TCA507246322RYR1c.1612C>T
c.3009C>T
c.2981C>T
n.69C>T
c.14676C>T (p.Val4892=)
c.14661C>T (p.Val4887=)
c.14658C>T (p.Val4886=)
c.14643C>T (p.Val4881=)
c.14673C>T (p.Val4891=)
c.14589C>T (p.Val4863=)
19g.38584973C>ACA507246323RYR1c.1613C>A
c.3010C>A
c.2982C>A
n.70C>A
c.14677C>A (p.Arg4893=)
c.14662C>A (p.Arg4888=)
c.14659C>A (p.Arg4887=)
c.14644C>A (p.Arg4882=)
c.14674C>A (p.Arg4892=)
c.14590C>A (p.Arg4864=)
19g.38584973C=CA2335094938RYR1c.1613C=
c.3010C=
c.2982C=
n.70C=
c.14677C= (p.Arg4893=)
c.14662C= (p.Arg4888=)
c.14659C= (p.Arg4887=)
c.14644C= (p.Arg4882=)
c.14674C= (p.Arg4892=)
c.14590C= (p.Arg4864=)
19g.38584973C>GCA308125459RYR1c.1613C>G
c.3010C>G
c.2982C>G
n.70C>G
c.14677C>G (p.Arg4893Gly)
c.14662C>G (p.Arg4888Gly)
c.14659C>G (p.Arg4887Gly)
c.14644C>G (p.Arg4882Gly)
c.14674C>G (p.Arg4892Gly)
c.14590C>G (p.Arg4864Gly)
 dbSNP
19g.38584973C>TCA024220RYR1c.1613C>T
c.3010C>T
c.2982C>T
n.70C>T
c.14677C>T (p.Arg4893Trp)
c.14662C>T (p.Arg4888Trp)
c.14659C>T (p.Arg4887Trp)
c.14644C>T (p.Arg4882Trp)
c.14674C>T (p.Arg4892Trp)
c.14590C>T (p.Arg4864Trp)
 ClinVar dbSNP gnomAD v4
19g.38584974G>ACA024221RYR1c.1614G>A
c.3011G>A
c.2983G>A
n.71G>A
c.14678G>A (p.Arg4893Gln)
c.14663G>A (p.Arg4888Gln)
c.14660G>A (p.Arg4887Gln)
c.14645G>A (p.Arg4882Gln)
c.14675G>A (p.Arg4892Gln)
c.14591G>A (p.Arg4864Gln)
 ClinVar dbSNP
19g.38584974G>CCA024223RYR1c.1614G>C
c.3011G>C
c.2983G>C
n.71G>C
c.14678G>C (p.Arg4893Pro)
c.14663G>C (p.Arg4888Pro)
c.14660G>C (p.Arg4887Pro)
c.14645G>C (p.Arg4882Pro)
c.14675G>C (p.Arg4892Pro)
c.14591G>C (p.Arg4864Pro)
 ClinVar dbSNP
19g.38584974G=CA2335094939RYR1c.1614G=
c.3011G=
c.2983G=
n.71G=
c.14678G= (p.Arg4893=)
c.14663G= (p.Arg4888=)
c.14660G= (p.Arg4887=)
c.14645G= (p.Arg4882=)
c.14675G= (p.Arg4892=)
c.14591G= (p.Arg4864=)
19g.38584974G>TCA405690254RYR1c.1614G>T
c.3011G>T
c.2983G>T
n.71G>T
c.14678G>T (p.Arg4893Leu)
c.14663G>T (p.Arg4888Leu)
c.14660G>T (p.Arg4887Leu)
c.14645G>T (p.Arg4882Leu)
c.14675G>T (p.Arg4892Leu)
c.14591G>T (p.Arg4864Leu)
 ClinVar gnomAD v4
19g.38584975G>ACA507246325RYR1c.1615G>A
c.3012G>A
c.2984G>A
n.72G>A
c.14679G>A (p.Arg4893=)
c.14664G>A (p.Arg4888=)
c.14661G>A (p.Arg4887=)
c.14646G>A (p.Arg4882=)
c.14676G>A (p.Arg4892=)
c.14592G>A (p.Arg4864=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38584975G>CCA507246326RYR1c.1615G>C
c.3012G>C
c.2984G>C
n.72G>C
c.14679G>C (p.Arg4893=)
c.14664G>C (p.Arg4888=)
c.14661G>C (p.Arg4887=)
c.14646G>C (p.Arg4882=)
c.14676G>C (p.Arg4892=)
c.14592G>C (p.Arg4864=)
19g.38584975G=CA2335094940RYR1c.1615G=
c.3012G=
c.2984G=
n.72G=
c.14679G= (p.Arg4893=)
c.14664G= (p.Arg4888=)
c.14661G= (p.Arg4887=)
c.14646G= (p.Arg4882=)
c.14676G= (p.Arg4892=)
c.14592G= (p.Arg4864=)
19g.38584975G>TCA507246328RYR1c.1615G>T
c.3012G>T
c.2984G>T
n.72G>T
c.14679G>T (p.Arg4893=)
c.14664G>T (p.Arg4888=)
c.14661G>T (p.Arg4887=)
c.14646G>T (p.Arg4882=)
c.14676G>T (p.Arg4892=)
c.14592G>T (p.Arg4864=)
19g.38584976G>ACA024225RYR1c.1616G>A
c.3013G>A
c.2985G>A
n.73G>A
c.14680G>A (p.Ala4894Thr)
c.14665G>A (p.Ala4889Thr)
c.14662G>A (p.Ala4888Thr)
c.14647G>A (p.Ala4883Thr)
c.14677G>A (p.Ala4893Thr)
c.14593G>A (p.Ala4865Thr)
 ClinVar dbSNP
19g.38584976G>CCA024227RYR1c.1616G>C
c.3013G>C
c.2985G>C
n.73G>C
c.14680G>C (p.Ala4894Pro)
c.14665G>C (p.Ala4889Pro)
c.14662G>C (p.Ala4888Pro)
c.14647G>C (p.Ala4883Pro)
c.14677G>C (p.Ala4893Pro)
c.14593G>C (p.Ala4865Pro)
 ClinVar dbSNP
19g.38584976G=CA2335094941RYR1c.1616G=
c.3013G=
c.2985G=
n.73G=
c.14680G= (p.Ala4894=)
c.14665G= (p.Ala4889=)
c.14662G= (p.Ala4888=)
c.14647G= (p.Ala4883=)
c.14677G= (p.Ala4893=)
c.14593G= (p.Ala4865=)
19g.38584976G>TCA405690256RYR1c.1616G>T
c.3013G>T
c.2985G>T
n.73G>T
c.14680G>T (p.Ala4894Ser)
c.14665G>T (p.Ala4889Ser)
c.14662G>T (p.Ala4888Ser)
c.14647G>T (p.Ala4883Ser)
c.14677G>T (p.Ala4893Ser)
c.14593G>T (p.Ala4865Ser)
19g.38584977C>ACA405690259RYR1c.1617C>A
c.3014C>A
c.2986C>A
n.74C>A
c.14681C>A (p.Ala4894Asp)
c.14666C>A (p.Ala4889Asp)
c.14663C>A (p.Ala4888Asp)
c.14648C>A (p.Ala4883Asp)
c.14678C>A (p.Ala4893Asp)
c.14594C>A (p.Ala4865Asp)
 ClinVar dbSNP
19g.38584977C=CA2335094942RYR1c.1617C=
c.3014C=
c.2986C=
n.74C=
c.14681C= (p.Ala4894=)
c.14666C= (p.Ala4889=)
c.14663C= (p.Ala4888=)
c.14648C= (p.Ala4883=)
c.14678C= (p.Ala4893=)
c.14594C= (p.Ala4865=)
19g.38584977C>GCA405690261RYR1c.1617C>G
c.3014C>G
c.2986C>G
n.74C>G
c.14681C>G (p.Ala4894Gly)
c.14666C>G (p.Ala4889Gly)
c.14663C>G (p.Ala4888Gly)
c.14648C>G (p.Ala4883Gly)
c.14678C>G (p.Ala4893Gly)
c.14594C>G (p.Ala4865Gly)
19g.38584977C>TCA024229RYR1c.1617C>T
c.3014C>T
c.2986C>T
n.74C>T
c.14681C>T (p.Ala4894Val)
c.14666C>T (p.Ala4889Val)
c.14663C>T (p.Ala4888Val)
c.14648C>T (p.Ala4883Val)
c.14678C>T (p.Ala4893Val)
c.14594C>T (p.Ala4865Val)
 ClinVar dbSNP
19g.38584978T>ACA507246330RYR1c.1618T>A
c.3015T>A
c.2987T>A
n.75T>A
c.14682T>A (p.Ala4894=)
c.14667T>A (p.Ala4889=)
c.14664T>A (p.Ala4888=)
c.14649T>A (p.Ala4883=)
c.14679T>A (p.Ala4893=)
c.14595T>A (p.Ala4865=)
19g.38584978T>CCA507246332RYR1c.1618T>C
c.3015T>C
c.2987T>C
n.75T>C
c.14682T>C (p.Ala4894=)
c.14667T>C (p.Ala4889=)
c.14664T>C (p.Ala4888=)
c.14649T>C (p.Ala4883=)
c.14679T>C (p.Ala4893=)
c.14595T>C (p.Ala4865=)
 dbSNP gnomAD v2 gnomAD v4
19g.38584978T>GCA507246333RYR1c.1618T>G
c.3015T>G
c.2987T>G
n.75T>G
c.14682T>G (p.Ala4894=)
c.14667T>G (p.Ala4889=)
c.14664T>G (p.Ala4888=)
c.14649T>G (p.Ala4883=)
c.14679T>G (p.Ala4893=)
c.14595T>G (p.Ala4865=)
19g.38584978T=CA2335094943RYR1c.1618T=
c.3015T=
c.2987T=
n.75T=
c.14682T= (p.Ala4894=)
c.14667T= (p.Ala4889=)
c.14664T= (p.Ala4888=)
c.14649T= (p.Ala4883=)
c.14679T= (p.Ala4893=)
c.14595T= (p.Ala4865=)
19g.38584979G>ACA405690265RYR1c.1619G>A
c.3016G>A
c.2988G>A
n.76G>A
c.14683G>A (p.Gly4895Ser)
c.14668G>A (p.Gly4890Ser)
c.14665G>A (p.Gly4889Ser)
c.14650G>A (p.Gly4884Ser)
c.14680G>A (p.Gly4894Ser)
c.14596G>A (p.Gly4866Ser)
19g.38584979G>CCA405690266RYR1c.1619G>C
c.3016G>C
c.2988G>C
n.76G>C
c.14683G>C (p.Gly4895Arg)
c.14668G>C (p.Gly4890Arg)
c.14665G>C (p.Gly4889Arg)
c.14650G>C (p.Gly4884Arg)
c.14680G>C (p.Gly4894Arg)
c.14596G>C (p.Gly4866Arg)
19g.38584979G>TCA405690267RYR1c.1619G>T
c.3016G>T
c.2988G>T
n.76G>T
c.14683G>T (p.Gly4895Cys)
c.14668G>T (p.Gly4890Cys)
c.14665G>T (p.Gly4889Cys)
c.14650G>T (p.Gly4884Cys)
c.14680G>T (p.Gly4894Cys)
c.14596G>T (p.Gly4866Cys)
19g.38584980G>ACA405690268RYR1c.1620G>A
c.3017G>A
c.2989G>A
n.77G>A
c.14684G>A (p.Gly4895Asp)
c.14669G>A (p.Gly4890Asp)
c.14666G>A (p.Gly4889Asp)
c.14651G>A (p.Gly4884Asp)
c.14681G>A (p.Gly4894Asp)
c.14597G>A (p.Gly4866Asp)
 COSMIC
19g.38584980G>CCA405690269RYR1c.1620G>C
c.3017G>C
c.2989G>C
n.77G>C
c.14684G>C (p.Gly4895Ala)
c.14669G>C (p.Gly4890Ala)
c.14666G>C (p.Gly4889Ala)
c.14651G>C (p.Gly4884Ala)
c.14681G>C (p.Gly4894Ala)
c.14597G>C (p.Gly4866Ala)
19g.38584980G=CA2335094944RYR1c.1620G=
c.3017G=
c.2989G=
n.77G=
c.14684G= (p.Gly4895=)
c.14669G= (p.Gly4890=)
c.14666G= (p.Gly4889=)
c.14651G= (p.Gly4884=)
c.14681G= (p.Gly4894=)
c.14597G= (p.Gly4866=)
19g.38584980G>TCA405690270RYR1c.1620G>T
c.3017G>T
c.2989G>T
n.77G>T
c.14684G>T (p.Gly4895Val)
c.14669G>T (p.Gly4890Val)
c.14666G>T (p.Gly4889Val)
c.14651G>T (p.Gly4884Val)
c.14681G>T (p.Gly4894Val)
c.14597G>T (p.Gly4866Val)
 ClinVar dbSNP
19g.38584981C>ACA507246335RYR1c.1621C>A
c.3018C>A
c.2990C>A
n.78C>A
c.14685C>A (p.Gly4895=)
c.14670C>A (p.Gly4890=)
c.14667C>A (p.Gly4889=)
c.14652C>A (p.Gly4884=)
c.14682C>A (p.Gly4894=)
c.14598C>A (p.Gly4866=)
19g.38584981C=CA2335094945RYR1c.1621C=
c.3018C=
c.2990C=
n.78C=
c.14685C= (p.Gly4895=)
c.14670C= (p.Gly4890=)
c.14667C= (p.Gly4889=)
c.14652C= (p.Gly4884=)
c.14682C= (p.Gly4894=)
c.14598C= (p.Gly4866=)
19g.38584981C>GCA507246336RYR1c.1621C>G
c.3018C>G
c.2990C>G
n.78C>G
c.14685C>G (p.Gly4895=)
c.14670C>G (p.Gly4890=)
c.14667C>G (p.Gly4889=)
c.14652C>G (p.Gly4884=)
c.14682C>G (p.Gly4894=)
c.14598C>G (p.Gly4866=)
19g.38584981C>TCA061513RYR1c.1621C>T
c.3018C>T
c.2990C>T
n.78C>T
c.14685C>T (p.Gly4895=)
c.14670C>T (p.Gly4890=)
c.14667C>T (p.Gly4889=)
c.14652C>T (p.Gly4884=)
c.14682C>T (p.Gly4894=)
c.14598C>T (p.Gly4866=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38584982G>ACA405690275RYR1c.1622G>A
c.3019G>A
c.2991G>A
n.79G>A
c.14686G>A (p.Gly4896Arg)
c.14671G>A (p.Gly4891Arg)
c.14668G>A (p.Gly4890Arg)
c.14653G>A (p.Gly4885Arg)
c.14683G>A (p.Gly4895Arg)
c.14599G>A (p.Gly4867Arg)
 ClinVar dbSNP gnomAD v4 COSMIC
19g.38584982G>CCA405690279RYR1c.1622G>C
c.3019G>C
c.2991G>C
n.79G>C
c.14686G>C (p.Gly4896Arg)
c.14671G>C (p.Gly4891Arg)
c.14668G>C (p.Gly4890Arg)
c.14653G>C (p.Gly4885Arg)
c.14683G>C (p.Gly4895Arg)
c.14599G>C (p.Gly4867Arg)
19g.38584982G=CA2335094946RYR1c.1622G=
c.3019G=
c.2991G=
n.79G=
c.14686G= (p.Gly4896=)
c.14671G= (p.Gly4891=)
c.14668G= (p.Gly4890=)
c.14653G= (p.Gly4885=)
c.14683G= (p.Gly4895=)
c.14599G= (p.Gly4867=)
19g.38584982G>TCA405690281RYR1c.1622G>T
c.3019G>T
c.2991G>T
n.79G>T
c.14686G>T (p.Gly4896Ter)
c.14671G>T (p.Gly4891Ter)
c.14668G>T (p.Gly4890Ter)
c.14653G>T (p.Gly4885Ter)
c.14683G>T (p.Gly4895Ter)
c.14599G>T (p.Gly4867Ter)
19g.38584983G>ACA405690282RYR1c.1623G>A
c.3020G>A
c.2992G>A
n.80G>A
c.14687G>A (p.Gly4896Glu)
c.14672G>A (p.Gly4891Glu)
c.14669G>A (p.Gly4890Glu)
c.14654G>A (p.Gly4885Glu)
c.14684G>A (p.Gly4895Glu)
c.14600G>A (p.Gly4867Glu)
 ClinVar dbSNP
19g.38584983G>CCA405690286RYR1c.1623G>C
c.3020G>C
c.2992G>C
n.80G>C
c.14687G>C (p.Gly4896Ala)
c.14672G>C (p.Gly4891Ala)
c.14669G>C (p.Gly4890Ala)
c.14654G>C (p.Gly4885Ala)
c.14684G>C (p.Gly4895Ala)
c.14600G>C (p.Gly4867Ala)
19g.38584983G=CA2335094947RYR1c.1623G=
c.3020G=
c.2992G=
n.80G=
c.14687G= (p.Gly4896=)
c.14672G= (p.Gly4891=)
c.14669G= (p.Gly4890=)
c.14654G= (p.Gly4885=)
c.14684G= (p.Gly4895=)
c.14600G= (p.Gly4867=)
19g.38584983G>TCA405690284RYR1c.1623G>T
c.3020G>T
c.2992G>T
n.80G>T
c.14687G>T (p.Gly4896Val)
c.14672G>T (p.Gly4891Val)
c.14669G>T (p.Gly4890Val)
c.14654G>T (p.Gly4885Val)
c.14684G>T (p.Gly4895Val)
c.14600G>T (p.Gly4867Val)
19g.38584984A>CCA507246338RYR1c.1624A>C
c.3021A>C
c.2993A>C
n.81A>C
c.14688A>C (p.Gly4896=)
c.14673A>C (p.Gly4891=)
c.14670A>C (p.Gly4890=)
c.14655A>C (p.Gly4885=)
c.14685A>C (p.Gly4895=)
c.14601A>C (p.Gly4867=)
19g.38584984A>GCA507246339RYR1c.1624A>G
c.3021A>G
c.2993A>G
n.81A>G
c.14688A>G (p.Gly4896=)
c.14673A>G (p.Gly4891=)
c.14670A>G (p.Gly4890=)
c.14655A>G (p.Gly4885=)
c.14685A>G (p.Gly4895=)
c.14601A>G (p.Gly4867=)
19g.38584984A>TCA507246340RYR1c.1624A>T
c.3021A>T
c.2993A>T
n.81A>T
c.14688A>T (p.Gly4896=)
c.14673A>T (p.Gly4891=)
c.14670A>T (p.Gly4890=)
c.14655A>T (p.Gly4885=)
c.14685A>T (p.Gly4895=)
c.14601A>T (p.Gly4867=)
19g.38584985G>ACA405690288RYR1c.1625G>A
c.3022G>A
c.2994G>A
n.82G>A
c.14689G>A (p.Gly4897Ser)
c.14674G>A (p.Gly4892Ser)
c.14671G>A (p.Gly4891Ser)
c.14656G>A (p.Gly4886Ser)
c.14686G>A (p.Gly4896Ser)
c.14602G>A (p.Gly4868Ser)
19g.38584985G>CCA405690289RYR1c.1625G>C
c.3022G>C
c.2994G>C
n.82G>C
c.14689G>C (p.Gly4897Arg)
c.14674G>C (p.Gly4892Arg)
c.14671G>C (p.Gly4891Arg)
c.14656G>C (p.Gly4886Arg)
c.14686G>C (p.Gly4896Arg)
c.14602G>C (p.Gly4868Arg)
19g.38584985G>TCA405690290RYR1c.1625G>T
c.3022G>T
c.2994G>T
n.82G>T
c.14689G>T (p.Gly4897Cys)
c.14674G>T (p.Gly4892Cys)
c.14671G>T (p.Gly4891Cys)
c.14656G>T (p.Gly4886Cys)
c.14686G>T (p.Gly4896Cys)
c.14602G>T (p.Gly4868Cys)
19g.38584986G>ACA405690291RYR1c.1626G>A
c.3023G>A
c.2995G>A
n.83G>A
c.14690G>A (p.Gly4897Asp)
c.14675G>A (p.Gly4892Asp)
c.14672G>A (p.Gly4891Asp)
c.14657G>A (p.Gly4886Asp)
c.14687G>A (p.Gly4896Asp)
c.14603G>A (p.Gly4868Asp)
 ClinVar dbSNP
19g.38584986G>CCA405690292RYR1c.1626G>C
c.3023G>C
c.2995G>C
n.83G>C
c.14690G>C (p.Gly4897Ala)
c.14675G>C (p.Gly4892Ala)
c.14672G>C (p.Gly4891Ala)
c.14657G>C (p.Gly4886Ala)
c.14687G>C (p.Gly4896Ala)
c.14603G>C (p.Gly4868Ala)
19g.38584986G=CA2335094948RYR1c.1626G=
c.3023G=
c.2995G=
n.83G=
c.14690G= (p.Gly4897=)
c.14675G= (p.Gly4892=)
c.14672G= (p.Gly4891=)
c.14657G= (p.Gly4886=)
c.14687G= (p.Gly4896=)
c.14603G= (p.Gly4868=)
19g.38584986G>TCA024231RYR1c.1626G>T
c.3023G>T
c.2995G>T
n.83G>T
c.14690G>T (p.Gly4897Val)
c.14675G>T (p.Gly4892Val)
c.14672G>T (p.Gly4891Val)
c.14657G>T (p.Gly4886Val)
c.14687G>T (p.Gly4896Val)
c.14603G>T (p.Gly4868Val)
 ClinVar dbSNP
19g.38584987C>ACA507246343RYR1c.1627C>A
c.3024C>A
c.2996C>A
n.84C>A
c.14691C>A (p.Gly4897=)
c.14676C>A (p.Gly4892=)
c.14673C>A (p.Gly4891=)
c.14658C>A (p.Gly4886=)
c.14688C>A (p.Gly4896=)
c.14604C>A (p.Gly4868=)
19g.38584987C>GCA507246344RYR1c.1627C>G
c.3024C>G
c.2996C>G
n.84C>G
c.14691C>G (p.Gly4897=)
c.14676C>G (p.Gly4892=)
c.14673C>G (p.Gly4891=)
c.14658C>G (p.Gly4886=)
c.14688C>G (p.Gly4896=)
c.14604C>G (p.Gly4868=)
19g.38584987C>TCA507246342RYR1c.1627C>T
c.3024C>T
c.2996C>T
n.84C>T
c.14691C>T (p.Gly4897=)
c.14676C>T (p.Gly4892=)
c.14673C>T (p.Gly4891=)
c.14658C>T (p.Gly4886=)
c.14688C>T (p.Gly4896=)
c.14604C>T (p.Gly4868=)
19g.38584988A>CCA405690295RYR1c.1628A>C
c.3025A>C
c.2997A>C
n.85A>C
c.14692A>C (p.Ile4898Leu)
c.14677A>C (p.Ile4893Leu)
c.14674A>C (p.Ile4892Leu)
c.14659A>C (p.Ile4887Leu)
c.14689A>C (p.Ile4897Leu)
c.14605A>C (p.Ile4869Leu)
19g.38584988A>GCA405690297RYR1c.1628A>G
c.3025A>G
c.2997A>G
n.85A>G
c.14692A>G (p.Ile4898Val)
c.14677A>G (p.Ile4893Val)
c.14674A>G (p.Ile4892Val)
c.14659A>G (p.Ile4887Val)
c.14689A>G (p.Ile4897Val)
c.14605A>G (p.Ile4869Val)
19g.38584988A>TCA405690299RYR1c.1628A>T
c.3025A>T
c.2997A>T
n.85A>T
c.14692A>T (p.Ile4898Phe)
c.14677A>T (p.Ile4893Phe)
c.14674A>T (p.Ile4892Phe)
c.14659A>T (p.Ile4887Phe)
c.14689A>T (p.Ile4897Phe)
c.14605A>T (p.Ile4869Phe)
19g.38584989T>ACA405690302RYR1c.1629T>A
c.3026T>A
c.2998T>A
n.86T>A
c.14693T>A (p.Ile4898Asn)
c.14678T>A (p.Ile4893Asn)
c.14675T>A (p.Ile4892Asn)
c.14660T>A (p.Ile4887Asn)
c.14690T>A (p.Ile4897Asn)
c.14606T>A (p.Ile4869Asn)
 ClinVar dbSNP
19g.38584989T>CCA024233RYR1c.1629T>C
c.3026T>C
c.2998T>C
n.86T>C
c.14693T>C (p.Ile4898Thr)
c.14678T>C (p.Ile4893Thr)
c.14675T>C (p.Ile4892Thr)
c.14660T>C (p.Ile4887Thr)
c.14690T>C (p.Ile4897Thr)
c.14606T>C (p.Ile4869Thr)
 ClinVar dbSNP gnomAD v4
19g.38584989T>GCA405690306RYR1c.1629T>G
c.3026T>G
c.2998T>G
n.86T>G
c.14693T>G (p.Ile4898Ser)
c.14678T>G (p.Ile4893Ser)
c.14675T>G (p.Ile4892Ser)
c.14660T>G (p.Ile4887Ser)
c.14690T>G (p.Ile4897Ser)
c.14606T>G (p.Ile4869Ser)
 ClinVar
19g.38584989T=CA2335094949RYR1c.1629T=
c.3026T=
c.2998T=
n.86T=
c.14693T= (p.Ile4898=)
c.14678T= (p.Ile4893=)
c.14675T= (p.Ile4892=)
c.14660T= (p.Ile4887=)
c.14690T= (p.Ile4897=)
c.14606T= (p.Ile4869=)
19g.38584990dupCA2584911050RYR1c.1630dup
c.3027dup
c.2999dup
n.87dup
c.14694dup (p.Gly4899TrpfsTer10)
c.14679dup (p.Gly4894TrpfsTer10)
c.14676dup (p.Gly4893TrpfsTer10)
c.14661dup (p.Gly4888TrpfsTer10)
c.14691dup (p.Gly4898TrpfsTer10)
c.14607dup (p.Gly4870TrpfsTer10)
 gnomAD v4
19g.38584990T>ACA507246348RYR1c.1630T>A
c.3027T>A
c.2999T>A
n.87T>A
c.14694T>A (p.Ile4898=)
c.14679T>A (p.Ile4893=)
c.14676T>A (p.Ile4892=)
c.14661T>A (p.Ile4887=)
c.14691T>A (p.Ile4897=)
c.14607T>A (p.Ile4869=)
19g.38584990T>CCA507246347RYR1c.1630T>C
c.3027T>C
c.2999T>C
n.87T>C
c.14694T>C (p.Ile4898=)
c.14679T>C (p.Ile4893=)
c.14676T>C (p.Ile4892=)
c.14661T>C (p.Ile4887=)
c.14691T>C (p.Ile4897=)
c.14607T>C (p.Ile4869=)
 gnomAD v4
19g.38584990T>GCA405690307RYR1c.1630T>G
c.3027T>G
c.2999T>G
n.87T>G
c.14694T>G (p.Ile4898Met)
c.14679T>G (p.Ile4893Met)
c.14676T>G (p.Ile4892Met)
c.14661T>G (p.Ile4887Met)
c.14691T>G (p.Ile4897Met)
c.14607T>G (p.Ile4869Met)
19g.38584991G>ACA024235RYR1c.1631G>A
c.3028G>A
c.3000G>A
n.88G>A
c.14695G>A (p.Gly4899Arg)
c.14680G>A (p.Gly4894Arg)
c.14677G>A (p.Gly4893Arg)
c.14662G>A (p.Gly4888Arg)
c.14692G>A (p.Gly4898Arg)
c.14608G>A (p.Gly4870Arg)
 ClinVar dbSNP
19g.38584991G>CCA405690308RYR1c.1631G>C
c.3028G>C
c.3000G>C
n.88G>C
c.14695G>C (p.Gly4899Arg)
c.14680G>C (p.Gly4894Arg)
c.14677G>C (p.Gly4893Arg)
c.14662G>C (p.Gly4888Arg)
c.14692G>C (p.Gly4898Arg)
c.14608G>C (p.Gly4870Arg)
19g.38584991G=CA2335094950RYR1c.1631G=
c.3028G=
c.3000G=
n.88G=
c.14695G= (p.Gly4899=)
c.14680G= (p.Gly4894=)
c.14677G= (p.Gly4893=)
c.14662G= (p.Gly4888=)
c.14692G= (p.Gly4898=)
c.14608G= (p.Gly4870=)
19g.38584991G>TCA405690309RYR1c.1631G>T
c.3028G>T
c.3000G>T
n.88G>T
c.14695G>T (p.Gly4899Trp)
c.14680G>T (p.Gly4894Trp)
c.14677G>T (p.Gly4893Trp)
c.14662G>T (p.Gly4888Trp)
c.14692G>T (p.Gly4898Trp)
c.14608G>T (p.Gly4870Trp)
19g.38584992G>ACA024237RYR1c.1632G>A
c.3029G>A
c.3001G>A
n.89G>A
c.14696G>A (p.Gly4899Glu)
c.14681G>A (p.Gly4894Glu)
c.14678G>A (p.Gly4893Glu)
c.14663G>A (p.Gly4888Glu)
c.14693G>A (p.Gly4898Glu)
c.14609G>A (p.Gly4870Glu)
 ClinVar dbSNP
19g.38584992G>CCA405690312RYR1c.1632G>C
c.3029G>C
c.3001G>C
n.89G>C
c.14696G>C (p.Gly4899Ala)
c.14681G>C (p.Gly4894Ala)
c.14678G>C (p.Gly4893Ala)
c.14663G>C (p.Gly4888Ala)
c.14693G>C (p.Gly4898Ala)
c.14609G>C (p.Gly4870Ala)
19g.38584992G=CA2335094951RYR1c.1632G=
c.3029G=
c.3001G=
n.89G=
c.14696G= (p.Gly4899=)
c.14681G= (p.Gly4894=)
c.14678G= (p.Gly4893=)
c.14663G= (p.Gly4888=)
c.14693G= (p.Gly4898=)
c.14609G= (p.Gly4870=)
19g.38584992G>TCA405690314RYR1c.1632G>T
c.3029G>T
c.3001G>T
n.89G>T
c.14696G>T (p.Gly4899Val)
c.14681G>T (p.Gly4894Val)
c.14678G>T (p.Gly4893Val)
c.14663G>T (p.Gly4888Val)
c.14693G>T (p.Gly4898Val)
c.14609G>T (p.Gly4870Val)
19g.38584993G>ACA061519RYR1c.1633G>A
c.3030G>A
c.3002G>A
n.90G>A
c.14697G>A (p.Gly4899=)
c.14682G>A (p.Gly4894=)
c.14679G>A (p.Gly4893=)
c.14664G>A (p.Gly4888=)
c.14694G>A (p.Gly4898=)
c.14610G>A (p.Gly4870=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38584993G>CCA507246351RYR1c.1633G>C
c.3030G>C
c.3002G>C
n.90G>C
c.14697G>C (p.Gly4899=)
c.14682G>C (p.Gly4894=)
c.14679G>C (p.Gly4893=)
c.14664G>C (p.Gly4888=)
c.14694G>C (p.Gly4898=)
c.14610G>C (p.Gly4870=)
19g.38584993G=CA2335094952RYR1c.1633G=
c.3030G=
c.3002G=
n.90G=
c.14697G= (p.Gly4899=)
c.14682G= (p.Gly4894=)
c.14679G= (p.Gly4893=)
c.14664G= (p.Gly4888=)
c.14694G= (p.Gly4898=)
c.14610G= (p.Gly4870=)
19g.38584993G>TCA061521RYR1c.1633G>T
c.3030G>T
c.3002G>T
n.90G>T
c.14697G>T (p.Gly4899=)
c.14682G>T (p.Gly4894=)
c.14679G>T (p.Gly4893=)
c.14664G>T (p.Gly4888=)
c.14694G>T (p.Gly4898=)
c.14610G>T (p.Gly4870=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38584994G>ACA405690320RYR1c.1634G>A
c.3031G>A
c.3003G>A
n.91G>A
c.14698G>A (p.Asp4900Asn)
c.14683G>A (p.Asp4895Asn)
c.14680G>A (p.Asp4894Asn)
c.14665G>A (p.Asp4889Asn)
c.14695G>A (p.Asp4899Asn)
c.14611G>A (p.Asp4871Asn)
19g.38584994G>CCA405690323RYR1c.1634G>C
c.3031G>C
c.3003G>C
n.91G>C
c.14698G>C (p.Asp4900His)
c.14683G>C (p.Asp4895His)
c.14680G>C (p.Asp4894His)
c.14665G>C (p.Asp4889His)
c.14695G>C (p.Asp4899His)
c.14611G>C (p.Asp4871His)
19g.38584994G>TCA405690327RYR1c.1634G>T
c.3031G>T
c.3003G>T
n.91G>T
c.14698G>T (p.Asp4900Tyr)
c.14683G>T (p.Asp4895Tyr)
c.14680G>T (p.Asp4894Tyr)
c.14665G>T (p.Asp4889Tyr)
c.14695G>T (p.Asp4899Tyr)
c.14611G>T (p.Asp4871Tyr)
19g.38584995A>CCA405690330RYR1c.1635A>C
c.3032A>C
c.3004A>C
n.92A>C
c.14699A>C (p.Asp4900Ala)
c.14684A>C (p.Asp4895Ala)
c.14681A>C (p.Asp4894Ala)
c.14666A>C (p.Asp4889Ala)
c.14696A>C (p.Asp4899Ala)
c.14612A>C (p.Asp4871Ala)
19g.38584995A>GCA405690333RYR1c.1635A>G
c.3032A>G
c.3004A>G
n.92A>G
c.14699A>G (p.Asp4900Gly)
c.14684A>G (p.Asp4895Gly)
c.14681A>G (p.Asp4894Gly)
c.14666A>G (p.Asp4889Gly)
c.14696A>G (p.Asp4899Gly)
c.14612A>G (p.Asp4871Gly)
 ClinVar dbSNP COSMIC
19g.38584995A>TCA405690342RYR1c.1635A>T
c.3032A>T
c.3004A>T
n.92A>T
c.14699A>T (p.Asp4900Val)
c.14684A>T (p.Asp4895Val)
c.14681A>T (p.Asp4894Val)
c.14666A>T (p.Asp4889Val)
c.14696A>T (p.Asp4899Val)
c.14612A>T (p.Asp4871Val)
19g.38584996C>ACA405690351RYR1c.1636C>A
c.3033C>A
c.3005C>A
n.93C>A
c.14700C>A (p.Asp4900Glu)
c.14685C>A (p.Asp4895Glu)
c.14682C>A (p.Asp4894Glu)
c.14667C>A (p.Asp4889Glu)
c.14697C>A (p.Asp4899Glu)
c.14613C>A (p.Asp4871Glu)
19g.38584996C=CA2335094953RYR1c.1636C=
c.3033C=
c.3005C=
n.93C=
c.14700C= (p.Asp4900=)
c.14685C= (p.Asp4895=)
c.14682C= (p.Asp4894=)
c.14667C= (p.Asp4889=)
c.14697C= (p.Asp4899=)
c.14613C= (p.Asp4871=)
19g.38584996C>GCA405690348RYR1c.1636C>G
c.3033C>G
c.3005C>G
n.93C>G
c.14700C>G (p.Asp4900Glu)
c.14685C>G (p.Asp4895Glu)
c.14682C>G (p.Asp4894Glu)
c.14667C>G (p.Asp4889Glu)
c.14697C>G (p.Asp4899Glu)
c.14613C>G (p.Asp4871Glu)
19g.38584996C>TCA081298RYR1c.1636C>T
c.3033C>T
c.3005C>T
n.93C>T
c.14700C>T (p.Asp4900=)
c.14685C>T (p.Asp4895=)
c.14682C>T (p.Asp4894=)
c.14667C>T (p.Asp4889=)
c.14697C>T (p.Asp4899=)
c.14613C>T (p.Asp4871=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38584998_38585012dupCA2580097258RYR1c.1638_1652dup
c.3035_3049dup
c.3007_3021dup
n.95_109dup
c.14702_14716dup (p.Pro4905_Ala4906insGluIleGluAspPro)
c.14687_14701dup (p.Pro4900_Ala4901insGluIleGluAspPro)
c.14684_14698dup (p.Pro4899_Ala4900insGluIleGluAspPro)
c.14669_14683dup (p.Pro4894_Ala4895insGluIleGluAspPro)
c.14699_14713dup (p.Pro4904_Ala4905insGluIleGluAspPro)
c.14615_14629dup (p.Pro4876_Ala4877insGluIleGluAspPro)
 ClinVar
19g.38584997G>ACA061530RYR1c.1637G>A
c.3034G>A
c.3006G>A
n.94G>A
c.14701G>A (p.Glu4901Lys)
c.14686G>A (p.Glu4896Lys)
c.14683G>A (p.Glu4895Lys)
c.14668G>A (p.Glu4890Lys)
c.14698G>A (p.Glu4900Lys)
c.14614G>A (p.Glu4872Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38584997G>CCA405690362RYR1c.1637G>C
c.3034G>C
c.3006G>C
n.94G>C
c.14701G>C (p.Glu4901Gln)
c.14686G>C (p.Glu4896Gln)
c.14683G>C (p.Glu4895Gln)
c.14668G>C (p.Glu4890Gln)
c.14698G>C (p.Glu4900Gln)
c.14614G>C (p.Glu4872Gln)
19g.38584997G=CA2335094954RYR1c.1637G=
c.3034G=
c.3006G=
n.94G=
c.14701G= (p.Glu4901=)
c.14686G= (p.Glu4896=)
c.14683G= (p.Glu4895=)
c.14668G= (p.Glu4890=)
c.14698G= (p.Glu4900=)
c.14614G= (p.Glu4872=)
19g.38584997G>TCA405690358RYR1c.1637G>T
c.3034G>T
c.3006G>T
n.94G>T
c.14701G>T (p.Glu4901Ter)
c.14686G>T (p.Glu4896Ter)
c.14683G>T (p.Glu4895Ter)
c.14668G>T (p.Glu4890Ter)
c.14698G>T (p.Glu4900Ter)
c.14614G>T (p.Glu4872Ter)
19g.38584998A>CCA405690368RYR1c.1638A>C
c.3035A>C
c.3007A>C
n.95A>C
c.14702A>C (p.Glu4901Ala)
c.14687A>C (p.Glu4896Ala)
c.14684A>C (p.Glu4895Ala)
c.14669A>C (p.Glu4890Ala)
c.14699A>C (p.Glu4900Ala)
c.14615A>C (p.Glu4872Ala)
19g.38584998A>GCA405690371RYR1c.1638A>G
c.3035A>G
c.3007A>G
n.95A>G
c.14702A>G (p.Glu4901Gly)
c.14687A>G (p.Glu4896Gly)
c.14684A>G (p.Glu4895Gly)
c.14669A>G (p.Glu4890Gly)
c.14699A>G (p.Glu4900Gly)
c.14615A>G (p.Glu4872Gly)
19g.38584998A>TCA405690372RYR1c.1638A>T
c.3035A>T
c.3007A>T
n.95A>T
c.14702A>T (p.Glu4901Val)
c.14687A>T (p.Glu4896Val)
c.14684A>T (p.Glu4895Val)
c.14669A>T (p.Glu4890Val)
c.14699A>T (p.Glu4900Val)
c.14615A>T (p.Glu4872Val)
19g.38584999G>ACA507246355RYR1c.1639G>A
c.3036G>A
c.3008G>A
n.96G>A
c.14703G>A (p.Glu4901=)
c.14688G>A (p.Glu4896=)
c.14685G>A (p.Glu4895=)
c.14670G>A (p.Glu4890=)
c.14700G>A (p.Glu4900=)
c.14616G>A (p.Glu4872=)
19g.38584999G>CCA405690377RYR1c.1639G>C
c.3036G>C
c.3008G>C
n.96G>C
c.14703G>C (p.Glu4901Asp)
c.14688G>C (p.Glu4896Asp)
c.14685G>C (p.Glu4895Asp)
c.14670G>C (p.Glu4890Asp)
c.14700G>C (p.Glu4900Asp)
c.14616G>C (p.Glu4872Asp)
19g.38584999G>TCA405690380RYR1c.1639G>T
c.3036G>T
c.3008G>T
n.96G>T
c.14703G>T (p.Glu4901Asp)
c.14688G>T (p.Glu4896Asp)
c.14685G>T (p.Glu4895Asp)
c.14670G>T (p.Glu4890Asp)
c.14700G>T (p.Glu4900Asp)
c.14616G>T (p.Glu4872Asp)
19g.38585000A>CCA405690383RYR1c.1640A>C
c.3037A>C
c.3009A>C
n.97A>C
c.14704A>C (p.Ile4902Leu)
c.14689A>C (p.Ile4897Leu)
c.14686A>C (p.Ile4896Leu)
c.14671A>C (p.Ile4891Leu)
c.14701A>C (p.Ile4901Leu)
c.14617A>C (p.Ile4873Leu)
19g.38585000A>GCA405690384RYR1c.1640A>G
c.3037A>G
c.3009A>G
n.97A>G
c.14704A>G (p.Ile4902Val)
c.14689A>G (p.Ile4897Val)
c.14686A>G (p.Ile4896Val)
c.14671A>G (p.Ile4891Val)
c.14701A>G (p.Ile4901Val)
c.14617A>G (p.Ile4873Val)
19g.38585000A>TCA405690385RYR1c.1640A>T
c.3037A>T
c.3009A>T
n.97A>T
c.14704A>T (p.Ile4902Phe)
c.14689A>T (p.Ile4897Phe)
c.14686A>T (p.Ile4896Phe)
c.14671A>T (p.Ile4891Phe)
c.14701A>T (p.Ile4901Phe)
c.14617A>T (p.Ile4873Phe)
19g.38585001T>ACA405690386RYR1c.1641T>A
c.3038T>A
c.3010T>A
n.98T>A
c.14705T>A (p.Ile4902Asn)
c.14690T>A (p.Ile4897Asn)
c.14687T>A (p.Ile4896Asn)
c.14672T>A (p.Ile4891Asn)
c.14702T>A (p.Ile4901Asn)
c.14618T>A (p.Ile4873Asn)
19g.38585001T>CCA405690387RYR1c.1641T>C
c.3038T>C
c.3010T>C
n.98T>C
c.14705T>C (p.Ile4902Thr)
c.14690T>C (p.Ile4897Thr)
c.14687T>C (p.Ile4896Thr)
c.14672T>C (p.Ile4891Thr)
c.14702T>C (p.Ile4901Thr)
c.14618T>C (p.Ile4873Thr)
 ClinVar dbSNP
19g.38585001T>GCA405690389RYR1c.1641T>G
c.3038T>G
c.3010T>G
n.98T>G
c.14705T>G (p.Ile4902Ser)
c.14690T>G (p.Ile4897Ser)
c.14687T>G (p.Ile4896Ser)
c.14672T>G (p.Ile4891Ser)
c.14702T>G (p.Ile4901Ser)
c.14618T>G (p.Ile4873Ser)
19g.38585001T=CA2335094955RYR1c.1641T=
c.3038T=
c.3010T=
n.98T=
c.14705T= (p.Ile4902=)
c.14690T= (p.Ile4897=)
c.14687T= (p.Ile4896=)
c.14672T= (p.Ile4891=)
c.14702T= (p.Ile4901=)
c.14618T= (p.Ile4873=)
19g.38585002C>ACA507246358RYR1c.1642C>A
c.3039C>A
c.3011C>A
n.99C>A
c.14706C>A (p.Ile4902=)
c.14691C>A (p.Ile4897=)
c.14688C>A (p.Ile4896=)
c.14673C>A (p.Ile4891=)
c.14703C>A (p.Ile4901=)
c.14619C>A (p.Ile4873=)
19g.38585002C=CA2335094956RYR1c.1642C=
c.3039C=
c.3011C=
n.99C=
c.14706C= (p.Ile4902=)
c.14691C= (p.Ile4897=)
c.14688C= (p.Ile4896=)
c.14673C= (p.Ile4891=)
c.14703C= (p.Ile4901=)
c.14619C= (p.Ile4873=)
19g.38585002C>GCA405690396RYR1c.1642C>G
c.3039C>G
c.3011C>G
n.99C>G
c.14706C>G (p.Ile4902Met)
c.14691C>G (p.Ile4897Met)
c.14688C>G (p.Ile4896Met)
c.14673C>G (p.Ile4891Met)
c.14703C>G (p.Ile4901Met)
c.14619C>G (p.Ile4873Met)
19g.38585002C>TCA10642775RYR1c.1642C>T
c.3039C>T
c.3011C>T
n.99C>T
c.14706C>T (p.Ile4902=)
c.14691C>T (p.Ile4897=)
c.14688C>T (p.Ile4896=)
c.14673C>T (p.Ile4891=)
c.14703C>T (p.Ile4901=)
c.14619C>T (p.Ile4873=)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
19g.38585003G>ACA061534RYR1c.1643G>A
c.3040G>A
c.3012G>A
n.100G>A
c.14707G>A (p.Glu4903Lys)
c.14692G>A (p.Glu4898Lys)
c.14689G>A (p.Glu4897Lys)
c.14674G>A (p.Glu4892Lys)
c.14704G>A (p.Glu4902Lys)
c.14620G>A (p.Glu4874Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38585003G>CCA405690409RYR1c.1643G>C
c.3040G>C
c.3012G>C
n.100G>C
c.14707G>C (p.Glu4903Gln)
c.14692G>C (p.Glu4898Gln)
c.14689G>C (p.Glu4897Gln)
c.14674G>C (p.Glu4892Gln)
c.14704G>C (p.Glu4902Gln)
c.14620G>C (p.Glu4874Gln)
19g.38585003G=CA2335094957RYR1c.1643G=
c.3040G=
c.3012G=
n.100G=
c.14707G= (p.Glu4903=)
c.14692G= (p.Glu4898=)
c.14689G= (p.Glu4897=)
c.14674G= (p.Glu4892=)
c.14704G= (p.Glu4902=)
c.14620G= (p.Glu4874=)
19g.38585003G>TCA405690406RYR1c.1643G>T
c.3040G>T
c.3012G>T
n.100G>T
c.14707G>T (p.Glu4903Ter)
c.14692G>T (p.Glu4898Ter)
c.14689G>T (p.Glu4897Ter)
c.14674G>T (p.Glu4892Ter)
c.14704G>T (p.Glu4902Ter)
c.14620G>T (p.Glu4874Ter)
19g.38585004A>CCA405690410RYR1c.1644A>C
c.3041A>C
c.3013A>C
n.101A>C
c.14708A>C (p.Glu4903Ala)
c.14693A>C (p.Glu4898Ala)
c.14690A>C (p.Glu4897Ala)
c.14675A>C (p.Glu4892Ala)
c.14705A>C (p.Glu4902Ala)
c.14621A>C (p.Glu4874Ala)
19g.38585004A>GCA405690412RYR1c.1644A>G
c.3041A>G
c.3013A>G
n.101A>G
c.14708A>G (p.Glu4903Gly)
c.14693A>G (p.Glu4898Gly)
c.14690A>G (p.Glu4897Gly)
c.14675A>G (p.Glu4892Gly)
c.14705A>G (p.Glu4902Gly)
c.14621A>G (p.Glu4874Gly)
19g.38585004A>TCA405690414RYR1c.1644A>T
c.3041A>T
c.3013A>T
n.101A>T
c.14708A>T (p.Glu4903Val)
c.14693A>T (p.Glu4898Val)
c.14690A>T (p.Glu4897Val)
c.14675A>T (p.Glu4892Val)
c.14705A>T (p.Glu4902Val)
c.14621A>T (p.Glu4874Val)
19g.38585005G>ACA507246362RYR1c.1645G>A
c.3042G>A
c.3014G>A
n.102G>A
c.14709G>A (p.Glu4903=)
c.14694G>A (p.Glu4898=)
c.14691G>A (p.Glu4897=)
c.14676G>A (p.Glu4892=)
c.14706G>A (p.Glu4902=)
c.14622G>A (p.Glu4874=)
19g.38585005G>CCA061537RYR1c.1645G>C
c.3042G>C
c.3014G>C
n.102G>C
c.14709G>C (p.Glu4903Asp)
c.14694G>C (p.Glu4898Asp)
c.14691G>C (p.Glu4897Asp)
c.14676G>C (p.Glu4892Asp)
c.14706G>C (p.Glu4902Asp)
c.14622G>C (p.Glu4874Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38585005G=CA2335094958RYR1c.1645G=
c.3042G=
c.3014G=
n.102G=
c.14709G= (p.Glu4903=)
c.14694G= (p.Glu4898=)
c.14691G= (p.Glu4897=)
c.14676G= (p.Glu4892=)
c.14706G= (p.Glu4902=)
c.14622G= (p.Glu4874=)
19g.38585005G>TCA405690422RYR1c.1645G>T
c.3042G>T
c.3014G>T
n.102G>T
c.14709G>T (p.Glu4903Asp)
c.14694G>T (p.Glu4898Asp)
c.14691G>T (p.Glu4897Asp)
c.14676G>T (p.Glu4892Asp)
c.14706G>T (p.Glu4902Asp)
c.14622G>T (p.Glu4874Asp)
19g.38585006G>ACA081301RYR1c.1646G>A
c.3043G>A
c.3015G>A
n.103G>A
c.14710G>A (p.Asp4904Asn)
c.14695G>A (p.Asp4899Asn)
c.14692G>A (p.Asp4898Asn)
c.14677G>A (p.Asp4893Asn)
c.14707G>A (p.Asp4903Asn)
c.14623G>A (p.Asp4875Asn)
19g.38585006G>CCA405690426RYR1c.1646G>C
c.3043G>C
c.3015G>C
n.103G>C
c.14710G>C (p.Asp4904His)
c.14695G>C (p.Asp4899His)
c.14692G>C (p.Asp4898His)
c.14677G>C (p.Asp4893His)
c.14707G>C (p.Asp4903His)
c.14623G>C (p.Asp4875His)
19g.38585006G>TCA405690430RYR1c.1646G>T
c.3043G>T
c.3015G>T
n.103G>T
c.14710G>T (p.Asp4904Tyr)
c.14695G>T (p.Asp4899Tyr)
c.14692G>T (p.Asp4898Tyr)
c.14677G>T (p.Asp4893Tyr)
c.14707G>T (p.Asp4903Tyr)
c.14623G>T (p.Asp4875Tyr)
19g.38585007A=CA2335094959RYR1c.1647A=
c.3044A=
c.3016A=
n.104A=
c.14711A= (p.Asp4904=)
c.14696A= (p.Asp4899=)
c.14693A= (p.Asp4898=)
c.14678A= (p.Asp4893=)
c.14708A= (p.Asp4903=)
c.14624A= (p.Asp4875=)
19g.38585007A>CCA405690447RYR1c.1647A>C
c.3044A>C
c.3016A>C
n.104A>C
c.14711A>C (p.Asp4904Ala)
c.14696A>C (p.Asp4899Ala)
c.14693A>C (p.Asp4898Ala)
c.14678A>C (p.Asp4893Ala)
c.14708A>C (p.Asp4903Ala)
c.14624A>C (p.Asp4875Ala)
 dbSNP
19g.38585007A>GCA405690448RYR1c.1647A>G
c.3044A>G
c.3016A>G
n.104A>G
c.14711A>G (p.Asp4904Gly)
c.14696A>G (p.Asp4899Gly)
c.14693A>G (p.Asp4898Gly)
c.14678A>G (p.Asp4893Gly)
c.14708A>G (p.Asp4903Gly)
c.14624A>G (p.Asp4875Gly)
19g.38585007A>TCA405690451RYR1c.1647A>T
c.3044A>T
c.3016A>T
n.104A>T
c.14711A>T (p.Asp4904Val)
c.14696A>T (p.Asp4899Val)
c.14693A>T (p.Asp4898Val)
c.14678A>T (p.Asp4893Val)
c.14708A>T (p.Asp4903Val)
c.14624A>T (p.Asp4875Val)
19g.38585008C>ACA405690454RYR1c.1648C>A
c.3045C>A
c.3017C>A
n.105C>A
c.14712C>A (p.Asp4904Glu)
c.14697C>A (p.Asp4899Glu)
c.14694C>A (p.Asp4898Glu)
c.14679C>A (p.Asp4893Glu)
c.14709C>A (p.Asp4903Glu)
c.14625C>A (p.Asp4875Glu)
19g.38585008C>GCA405690464RYR1c.1648C>G
c.3045C>G
c.3017C>G
n.105C>G
c.14712C>G (p.Asp4904Glu)
c.14697C>G (p.Asp4899Glu)
c.14694C>G (p.Asp4898Glu)
c.14679C>G (p.Asp4893Glu)
c.14709C>G (p.Asp4903Glu)
c.14625C>G (p.Asp4875Glu)
19g.38585008C>TCA507246366RYR1c.1648C>T
c.3045C>T
c.3017C>T
n.105C>T
c.14712C>T (p.Asp4904=)
c.14697C>T (p.Asp4899=)
c.14694C>T (p.Asp4898=)
c.14679C>T (p.Asp4893=)
c.14709C>T (p.Asp4903=)
c.14625C>T (p.Asp4875=)
 ClinVar
19g.38585009C>ACA16043558RYR1c.1649C>A
c.3046C>A
c.3018C>A
n.106C>A
c.14713C>A (p.Pro4905Thr)
c.14698C>A (p.Pro4900Thr)
c.14695C>A (p.Pro4899Thr)
c.14680C>A (p.Pro4894Thr)
c.14710C>A (p.Pro4904Thr)
c.14626C>A (p.Pro4876Thr)
 ClinVar dbSNP
19g.38585009C=CA2335094960RYR1c.1649C=
c.3046C=
c.3018C=
n.106C=
c.14713C= (p.Pro4905=)
c.14698C= (p.Pro4900=)
c.14695C= (p.Pro4899=)
c.14680C= (p.Pro4894=)
c.14710C= (p.Pro4904=)
c.14626C= (p.Pro4876=)
19g.38585009C>GCA405690474RYR1c.1649C>G
c.3046C>G
c.3018C>G
n.106C>G
c.14713C>G (p.Pro4905Ala)
c.14698C>G (p.Pro4900Ala)
c.14695C>G (p.Pro4899Ala)
c.14680C>G (p.Pro4894Ala)
c.14710C>G (p.Pro4904Ala)
c.14626C>G (p.Pro4876Ala)
19g.38585009C>TCA405690476RYR1c.1649C>T
c.3046C>T
c.3018C>T
n.106C>T
c.14713C>T (p.Pro4905Ser)
c.14698C>T (p.Pro4900Ser)
c.14695C>T (p.Pro4899Ser)
c.14680C>T (p.Pro4894Ser)
c.14710C>T (p.Pro4904Ser)
c.14626C>T (p.Pro4876Ser)
 ClinVar
19g.38585010C>ACA405690479RYR1c.1650C>A
c.3047C>A
c.3019C>A
n.107C>A
c.14714C>A (p.Pro4905His)
c.14699C>A (p.Pro4900His)
c.14696C>A (p.Pro4899His)
c.14681C>A (p.Pro4894His)
c.14711C>A (p.Pro4904His)
c.14627C>A (p.Pro4876His)
 gnomAD v4
19g.38585010C>GCA405690481RYR1c.1650C>G
c.3047C>G
c.3019C>G
n.107C>G
c.14714C>G (p.Pro4905Arg)
c.14699C>G (p.Pro4900Arg)
c.14696C>G (p.Pro4899Arg)
c.14681C>G (p.Pro4894Arg)
c.14711C>G (p.Pro4904Arg)
c.14627C>G (p.Pro4876Arg)
19g.38585010C>TCA405690486RYR1c.1650C>T
c.3047C>T
c.3019C>T
n.107C>T
c.14714C>T (p.Pro4905Leu)
c.14699C>T (p.Pro4900Leu)
c.14696C>T (p.Pro4899Leu)
c.14681C>T (p.Pro4894Leu)
c.14711C>T (p.Pro4904Leu)
c.14627C>T (p.Pro4876Leu)
19g.38585011C>ACA507246368RYR1c.1651C>A
c.3048C>A
c.3020C>A
n.108C>A
c.14715C>A (p.Pro4905=)
c.14700C>A (p.Pro4900=)
c.14697C>A (p.Pro4899=)
c.14682C>A (p.Pro4894=)
c.14712C>A (p.Pro4904=)
c.14628C>A (p.Pro4876=)
19g.38585011C=CA2335094961RYR1c.1651C=
c.3048C=
c.3020C=
n.108C=
c.14715C= (p.Pro4905=)
c.14700C= (p.Pro4900=)
c.14697C= (p.Pro4899=)
c.14682C= (p.Pro4894=)
c.14712C= (p.Pro4904=)
c.14628C= (p.Pro4876=)
19g.38585011C>GCA507246369RYR1c.1651C>G
c.3048C>G
c.3020C>G
n.108C>G
c.14715C>G (p.Pro4905=)
c.14700C>G (p.Pro4900=)
c.14697C>G (p.Pro4899=)
c.14682C>G (p.Pro4894=)
c.14712C>G (p.Pro4904=)
c.14628C>G (p.Pro4876=)
19g.38585011C>TCA507246370RYR1c.1651C>T
c.3048C>T
c.3020C>T
n.108C>T
c.14715C>T (p.Pro4905=)
c.14700C>T (p.Pro4900=)
c.14697C>T (p.Pro4899=)
c.14682C>T (p.Pro4894=)
c.14712C>T (p.Pro4904=)
c.14628C>T (p.Pro4876=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38585012G>ACA405690492RYR1c.1652G>A
c.3049G>A
c.3021G>A
n.109G>A
c.14716G>A (p.Ala4906Thr)
c.14701G>A (p.Ala4901Thr)
c.14698G>A (p.Ala4900Thr)
c.14683G>A (p.Ala4895Thr)
c.14713G>A (p.Ala4905Thr)
c.14629G>A (p.Ala4877Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38585012G>CCA405690495RYR1c.1652G>C
c.3049G>C
c.3021G>C
n.109G>C
c.14716G>C (p.Ala4906Pro)
c.14701G>C (p.Ala4901Pro)
c.14698G>C (p.Ala4900Pro)
c.14683G>C (p.Ala4895Pro)
c.14713G>C (p.Ala4905Pro)
c.14629G>C (p.Ala4877Pro)
19g.38585012G=CA2335094962RYR1c.1652G=
c.3049G=
c.3021G=
n.109G=
c.14716G= (p.Ala4906=)
c.14701G= (p.Ala4901=)
c.14698G= (p.Ala4900=)
c.14683G= (p.Ala4895=)
c.14713G= (p.Ala4905=)
c.14629G= (p.Ala4877=)
19g.38585012G>TCA405690499RYR1c.1652G>T
c.3049G>T
c.3021G>T
n.109G>T
c.14716G>T (p.Ala4906Ser)
c.14701G>T (p.Ala4901Ser)
c.14698G>T (p.Ala4900Ser)
c.14683G>T (p.Ala4895Ser)
c.14713G>T (p.Ala4905Ser)
c.14629G>T (p.Ala4877Ser)
 dbSNP
19g.38585013C>ACA405690510RYR1c.1653C>A
c.3050C>A
c.3022C>A
n.110C>A
c.14717C>A (p.Ala4906Glu)
c.14702C>A (p.Ala4901Glu)
c.14699C>A (p.Ala4900Glu)
c.14684C>A (p.Ala4895Glu)
c.14714C>A (p.Ala4905Glu)
c.14630C>A (p.Ala4877Glu)
19g.38585013C=CA2335094963RYR1c.1653C=
c.3050C=
c.3022C=
n.110C=
c.14717C= (p.Ala4906=)
c.14702C= (p.Ala4901=)
c.14699C= (p.Ala4900=)
c.14684C= (p.Ala4895=)
c.14714C= (p.Ala4905=)
c.14630C= (p.Ala4877=)
19g.38585013C>GCA024239RYR1c.1653C>G
c.3050C>G
c.3022C>G
n.110C>G
c.14717C>G (p.Ala4906Gly)
c.14702C>G (p.Ala4901Gly)
c.14699C>G (p.Ala4900Gly)
c.14684C>G (p.Ala4895Gly)
c.14714C>G (p.Ala4905Gly)
c.14630C>G (p.Ala4877Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38585013C>TCA024241RYR1c.1653C>T
c.3050C>T
c.3022C>T
n.110C>T
c.14717C>T (p.Ala4906Val)
c.14702C>T (p.Ala4901Val)
c.14699C>T (p.Ala4900Val)
c.14684C>T (p.Ala4895Val)
c.14714C>T (p.Ala4905Val)
c.14630C>T (p.Ala4877Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38585014G>ACA061546RYR1c.1654G>A
c.3051G>A
c.3023G>A
n.111G>A
c.14718G>A (p.Ala4906=)
c.14703G>A (p.Ala4901=)
c.14700G>A (p.Ala4900=)
c.14685G>A (p.Ala4895=)
c.14715G>A (p.Ala4905=)
c.14631G>A (p.Ala4877=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38585014G>CCA507246374RYR1c.1654G>C
c.3051G>C
c.3023G>C
n.111G>C
c.14718G>C (p.Ala4906=)
c.14703G>C (p.Ala4901=)
c.14700G>C (p.Ala4900=)
c.14685G>C (p.Ala4895=)
c.14715G>C (p.Ala4905=)
c.14631G>C (p.Ala4877=)
19g.38585014G=CA2335094964RYR1c.1654G=
c.3051G=
c.3023G=
n.111G=
c.14718G= (p.Ala4906=)
c.14703G= (p.Ala4901=)
c.14700G= (p.Ala4900=)
c.14685G= (p.Ala4895=)
c.14715G= (p.Ala4905=)
c.14631G= (p.Ala4877=)
19g.38585014G>TCA507246375RYR1c.1654G>T
c.3051G>T
c.3023G>T
n.111G>T
c.14718G>T (p.Ala4906=)
c.14703G>T (p.Ala4901=)
c.14700G>T (p.Ala4900=)
c.14685G>T (p.Ala4895=)
c.14715G>T (p.Ala4905=)
c.14631G>T (p.Ala4877=)
19g.38585015G>ACA405690545RYR1c.1655G>A
c.3052G>A
c.3024G>A
n.112G>A
c.14719G>A (p.Gly4907Ser)
c.14704G>A (p.Gly4902Ser)
c.14701G>A (p.Gly4901Ser)
c.14686G>A (p.Gly4896Ser)
c.14716G>A (p.Gly4906Ser)
c.14632G>A (p.Gly4878Ser)
19g.38585015G>CCA405690535RYR1c.1655G>C
c.3052G>C
c.3024G>C
n.112G>C
c.14719G>C (p.Gly4907Arg)
c.14704G>C (p.Gly4902Arg)
c.14701G>C (p.Gly4901Arg)
c.14686G>C (p.Gly4896Arg)
c.14716G>C (p.Gly4906Arg)
c.14632G>C (p.Gly4878Arg)
19g.38585015G>TCA405690541RYR1c.1655G>T
c.3052G>T
c.3024G>T
n.112G>T
c.14719G>T (p.Gly4907Cys)
c.14704G>T (p.Gly4902Cys)
c.14701G>T (p.Gly4901Cys)
c.14686G>T (p.Gly4896Cys)
c.14716G>T (p.Gly4906Cys)
c.14632G>T (p.Gly4878Cys)
19g.38585016G>ACA405690552RYR1c.1656G>A
c.3053G>A
c.3025G>A
n.113G>A
c.14720G>A (p.Gly4907Asp)
c.14705G>A (p.Gly4902Asp)
c.14702G>A (p.Gly4901Asp)
c.14687G>A (p.Gly4896Asp)
c.14717G>A (p.Gly4906Asp)
c.14633G>A (p.Gly4878Asp)
19g.38585016G>CCA405690554RYR1c.1656G>C
c.3053G>C
c.3025G>C
n.113G>C
c.14720G>C (p.Gly4907Ala)
c.14705G>C (p.Gly4902Ala)
c.14702G>C (p.Gly4901Ala)
c.14687G>C (p.Gly4896Ala)
c.14717G>C (p.Gly4906Ala)
c.14633G>C (p.Gly4878Ala)
19g.38585016G>TCA405690555RYR1c.1656G>T
c.3053G>T
c.3025G>T
n.113G>T
c.14720G>T (p.Gly4907Val)
c.14705G>T (p.Gly4902Val)
c.14702G>T (p.Gly4901Val)
c.14687G>T (p.Gly4896Val)
c.14717G>T (p.Gly4906Val)
c.14633G>T (p.Gly4878Val)
19g.38585017T>ACA507246377RYR1c.1657T>A
c.3054T>A
c.3026T>A
n.114T>A
c.14721T>A (p.Gly4907=)
c.14706T>A (p.Gly4902=)
c.14703T>A (p.Gly4901=)
c.14688T>A (p.Gly4896=)
c.14718T>A (p.Gly4906=)
c.14634T>A (p.Gly4878=)
19g.38585017T>CCA507246379RYR1c.1657T>C
c.3054T>C
c.3026T>C
n.114T>C
c.14721T>C (p.Gly4907=)
c.14706T>C (p.Gly4902=)
c.14703T>C (p.Gly4901=)
c.14688T>C (p.Gly4896=)
c.14718T>C (p.Gly4906=)
c.14634T>C (p.Gly4878=)
19g.38585017T>GCA507246380RYR1c.1657T>G
c.3054T>G
c.3026T>G
n.114T>G
c.14721T>G (p.Gly4907=)
c.14706T>G (p.Gly4902=)
c.14703T>G (p.Gly4901=)
c.14688T>G (p.Gly4896=)
c.14718T>G (p.Gly4906=)
c.14634T>G (p.Gly4878=)
19g.38585018G>ACA405690556RYR1c.1658G>A
c.3055G>A
c.3027G>A
n.115G>A
c.14722G>A (p.Asp4908Asn)
c.14707G>A (p.Asp4903Asn)
c.14704G>A (p.Asp4902Asn)
c.14689G>A (p.Asp4897Asn)
c.14719G>A (p.Asp4907Asn)
c.14635G>A (p.Asp4879Asn)
19g.38585018G>CCA405690557RYR1c.1658G>C
c.3055G>C
c.3027G>C
n.115G>C
c.14722G>C (p.Asp4908His)
c.14707G>C (p.Asp4903His)
c.14704G>C (p.Asp4902His)
c.14689G>C (p.Asp4897His)
c.14719G>C (p.Asp4907His)
c.14635G>C (p.Asp4879His)
19g.38585018G>TCA405690558RYR1c.1658G>T
c.3055G>T
c.3027G>T
n.115G>T
c.14722G>T (p.Asp4908Tyr)
c.14707G>T (p.Asp4903Tyr)
c.14704G>T (p.Asp4902Tyr)
c.14689G>T (p.Asp4897Tyr)
c.14719G>T (p.Asp4907Tyr)
c.14635G>T (p.Asp4879Tyr)
19g.38585019A=CA2335094965RYR1c.1659A=
c.3056A=
c.3028A=
n.116A=
c.14723A= (p.Asp4908=)
c.14708A= (p.Asp4903=)
c.14705A= (p.Asp4902=)
c.14690A= (p.Asp4897=)
c.14720A= (p.Asp4907=)
c.14636A= (p.Asp4879=)
19g.38585019A>CCA405690559RYR1c.1659A>C
c.3056A>C
c.3028A>C
n.116A>C
c.14723A>C (p.Asp4908Ala)
c.14708A>C (p.Asp4903Ala)
c.14705A>C (p.Asp4902Ala)
c.14690A>C (p.Asp4897Ala)
c.14720A>C (p.Asp4907Ala)
c.14636A>C (p.Asp4879Ala)
19g.38585019A>GCA405690561RYR1c.1659A>G
c.3056A>G
c.3028A>G
n.116A>G
c.14723A>G (p.Asp4908Gly)
c.14708A>G (p.Asp4903Gly)
c.14705A>G (p.Asp4902Gly)
c.14690A>G (p.Asp4897Gly)
c.14720A>G (p.Asp4907Gly)
c.14636A>G (p.Asp4879Gly)
 dbSNP gnomAD v2 gnomAD v4
19g.38585019A>TCA405690565RYR1c.1659A>T
c.3056A>T
c.3028A>T
n.116A>T
c.14723A>T (p.Asp4908Val)
c.14708A>T (p.Asp4903Val)
c.14705A>T (p.Asp4902Val)
c.14690A>T (p.Asp4897Val)
c.14720A>T (p.Asp4907Val)
c.14636A>T (p.Asp4879Val)
19g.38585020C>ACA405690567RYR1c.1660C>A
c.3057C>A
c.3029C>A
n.117C>A
c.14724C>A (p.Asp4908Glu)
c.14709C>A (p.Asp4903Glu)
c.14706C>A (p.Asp4902Glu)
c.14691C>A (p.Asp4897Glu)
c.14721C>A (p.Asp4907Glu)
c.14637C>A (p.Asp4879Glu)
19g.38585020C=CA2335094966RYR1c.1660C=
c.3057C=
c.3029C=
n.117C=
c.14724C= (p.Asp4908=)
c.14709C= (p.Asp4903=)
c.14706C= (p.Asp4902=)
c.14691C= (p.Asp4897=)
c.14721C= (p.Asp4907=)
c.14637C= (p.Asp4879=)
19g.38585020C>GCA405690568RYR1c.1660C>G
c.3057C>G
c.3029C>G
n.117C>G
c.14724C>G (p.Asp4908Glu)
c.14709C>G (p.Asp4903Glu)
c.14706C>G (p.Asp4902Glu)
c.14691C>G (p.Asp4897Glu)
c.14721C>G (p.Asp4907Glu)
c.14637C>G (p.Asp4879Glu)
 gnomAD v4
19g.38585020C>TCA061552RYR1c.1660C>T
c.3057C>T
c.3029C>T
n.117C>T
c.14724C>T (p.Asp4908=)
c.14709C>T (p.Asp4903=)
c.14706C>T (p.Asp4902=)
c.14691C>T (p.Asp4897=)
c.14721C>T (p.Asp4907=)
c.14637C>T (p.Asp4879=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38585021G>ACA061556RYR1c.1661G>A
c.3058G>A
c.3030G>A
n.118G>A
c.14725G>A (p.Glu4909Lys)
c.14710G>A (p.Glu4904Lys)
c.14707G>A (p.Glu4903Lys)
c.14692G>A (p.Glu4898Lys)
c.14722G>A (p.Glu4908Lys)
c.14638G>A (p.Glu4880Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38585021G>CCA405690576RYR1c.1661G>C
c.3058G>C
c.3030G>C
n.118G>C
c.14725G>C (p.Glu4909Gln)
c.14710G>C (p.Glu4904Gln)
c.14707G>C (p.Glu4903Gln)
c.14692G>C (p.Glu4898Gln)
c.14722G>C (p.Glu4908Gln)
c.14638G>C (p.Glu4880Gln)
19g.38585021G=CA2335094967RYR1c.1661G=
c.3058G=
c.3030G=
n.118G=
c.14725G= (p.Glu4909=)
c.14710G= (p.Glu4904=)
c.14707G= (p.Glu4903=)
c.14692G= (p.Glu4898=)
c.14722G= (p.Glu4908=)
c.14638G= (p.Glu4880=)
19g.38585021G>TCA405690571RYR1c.1661G>T
c.3058G>T
c.3030G>T
n.118G>T
c.14725G>T (p.Glu4909Ter)
c.14710G>T (p.Glu4904Ter)
c.14707G>T (p.Glu4903Ter)
c.14692G>T (p.Glu4898Ter)
c.14722G>T (p.Glu4908Ter)
c.14638G>T (p.Glu4880Ter)
19g.38585022A>CCA405690586RYR1c.1662A>C
c.3059A>C
c.3031A>C
n.119A>C
c.14726A>C (p.Glu4909Ala)
c.14711A>C (p.Glu4904Ala)
c.14708A>C (p.Glu4903Ala)
c.14693A>C (p.Glu4898Ala)
c.14723A>C (p.Glu4908Ala)
c.14639A>C (p.Glu4880Ala)
19g.38585022A>GCA405690590RYR1c.1662A>G
c.3059A>G
c.3031A>G
n.119A>G
c.14726A>G (p.Glu4909Gly)
c.14711A>G (p.Glu4904Gly)
c.14708A>G (p.Glu4903Gly)
c.14693A>G (p.Glu4898Gly)
c.14723A>G (p.Glu4908Gly)
c.14639A>G (p.Glu4880Gly)
19g.38585022A>TCA405690587RYR1c.1662A>T
c.3059A>T
c.3031A>T
n.119A>T
c.14726A>T (p.Glu4909Val)
c.14711A>T (p.Glu4904Val)
c.14708A>T (p.Glu4903Val)
c.14693A>T (p.Glu4898Val)
c.14723A>T (p.Glu4908Val)
c.14639A>T (p.Glu4880Val)
19g.38585023A>CCA405690594RYR1c.1663A>C
c.3060A>C
c.3032A>C
n.120A>C
c.14727A>C (p.Glu4909Asp)
c.14712A>C (p.Glu4904Asp)
c.14709A>C (p.Glu4903Asp)
c.14694A>C (p.Glu4898Asp)
c.14724A>C (p.Glu4908Asp)
c.14640A>C (p.Glu4880Asp)
19g.38585023A>GCA507246382RYR1c.1663A>G
c.3060A>G
c.3032A>G
n.120A>G
c.14727A>G (p.Glu4909=)
c.14712A>G (p.Glu4904=)
c.14709A>G (p.Glu4903=)
c.14694A>G (p.Glu4898=)
c.14724A>G (p.Glu4908=)
c.14640A>G (p.Glu4880=)
 gnomAD v4
19g.38585023A>TCA405690598RYR1c.1663A>T
c.3060A>T
c.3032A>T
n.120A>T
c.14727A>T (p.Glu4909Asp)
c.14712A>T (p.Glu4904Asp)
c.14709A>T (p.Glu4903Asp)
c.14694A>T (p.Glu4898Asp)
c.14724A>T (p.Glu4908Asp)
c.14640A>T (p.Glu4880Asp)
19g.38585024T>ACA081306RYR1c.1664T>A
c.3061T>A
c.3033T>A
n.121T>A
c.14728T>A (p.Tyr4910Asn)
c.14713T>A (p.Tyr4905Asn)
c.14710T>A (p.Tyr4904Asn)
c.14695T>A (p.Tyr4899Asn)
c.14725T>A (p.Tyr4909Asn)
c.14641T>A (p.Tyr4881Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38585024T>CCA405690613RYR1c.1664T>C
c.3061T>C
c.3033T>C
n.121T>C
c.14728T>C (p.Tyr4910His)
c.14713T>C (p.Tyr4905His)
c.14710T>C (p.Tyr4904His)
c.14695T>C (p.Tyr4899His)
c.14725T>C (p.Tyr4909His)
c.14641T>C (p.Tyr4881His)
19g.38585024T>GCA405690612RYR1c.1664T>G
c.3061T>G
c.3033T>G
n.121T>G
c.14728T>G (p.Tyr4910Asp)
c.14713T>G (p.Tyr4905Asp)
c.14710T>G (p.Tyr4904Asp)
c.14695T>G (p.Tyr4899Asp)
c.14725T>G (p.Tyr4909Asp)
c.14641T>G (p.Tyr4881Asp)
19g.38585024T=CA2335094968RYR1c.1664T=
c.3061T=
c.3033T=
n.121T=
c.14728T= (p.Tyr4910=)
c.14713T= (p.Tyr4905=)
c.14710T= (p.Tyr4904=)
c.14695T= (p.Tyr4899=)
c.14725T= (p.Tyr4909=)
c.14641T= (p.Tyr4881=)
19g.38585025A>CCA405690616RYR1c.1665A>C
c.3062A>C
c.3034A>C
n.122A>C
c.14729A>C (p.Tyr4910Ser)
c.14714A>C (p.Tyr4905Ser)
c.14711A>C (p.Tyr4904Ser)
c.14696A>C (p.Tyr4899Ser)
c.14726A>C (p.Tyr4909Ser)
c.14642A>C (p.Tyr4881Ser)
19g.38585025A>GCA405690622RYR1c.1665A>G
c.3062A>G
c.3034A>G
n.122A>G
c.14729A>G (p.Tyr4910Cys)
c.14714A>G (p.Tyr4905Cys)
c.14711A>G (p.Tyr4904Cys)
c.14696A>G (p.Tyr4899Cys)
c.14726A>G (p.Tyr4909Cys)
c.14642A>G (p.Tyr4881Cys)
19g.38585025A>TCA405690631RYR1c.1665A>T
c.3062A>T
c.3034A>T
n.122A>T
c.14729A>T (p.Tyr4910Phe)
c.14714A>T (p.Tyr4905Phe)
c.14711A>T (p.Tyr4904Phe)
c.14696A>T (p.Tyr4899Phe)
c.14726A>T (p.Tyr4909Phe)
c.14642A>T (p.Tyr4881Phe)
19g.38585026C>ACA405690636RYR1c.1666C>A
c.3063C>A
c.3035C>A
n.123C>A
c.14730C>A (p.Tyr4910Ter)
c.14715C>A (p.Tyr4905Ter)
c.14712C>A (p.Tyr4904Ter)
c.14697C>A (p.Tyr4899Ter)
c.14727C>A (p.Tyr4909Ter)
c.14643C>A (p.Tyr4881Ter)
19g.38585026C=CA2335094969RYR1c.1666C=
c.3063C=
c.3035C=
n.123C=
c.14730C= (p.Tyr4910=)
c.14715C= (p.Tyr4905=)
c.14712C= (p.Tyr4904=)
c.14697C= (p.Tyr4899=)
c.14727C= (p.Tyr4909=)
c.14643C= (p.Tyr4881=)
19g.38585026C>GCA405690638RYR1c.1666C>G
c.3063C>G
c.3035C>G
n.123C>G
c.14730C>G (p.Tyr4910Ter)
c.14715C>G (p.Tyr4905Ter)
c.14712C>G (p.Tyr4904Ter)
c.14697C>G (p.Tyr4899Ter)
c.14727C>G (p.Tyr4909Ter)
c.14643C>G (p.Tyr4881Ter)
19g.38585026C>TCA061563RYR1c.1666C>T
c.3063C>T
c.3035C>T
n.123C>T
c.14730C>T (p.Tyr4910=)
c.14715C>T (p.Tyr4905=)
c.14712C>T (p.Tyr4904=)
c.14697C>T (p.Tyr4899=)
c.14727C>T (p.Tyr4909=)
c.14643C>T (p.Tyr4881=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38585027G>ACA10606470RYR1c.1667G>A
c.3064G>A
c.3036G>A
n.124G>A
c.14731G>A (p.Glu4911Lys)
c.14716G>A (p.Glu4906Lys)
c.14713G>A (p.Glu4905Lys)
c.14698G>A (p.Glu4900Lys)
c.14728G>A (p.Glu4910Lys)
c.14644G>A (p.Glu4882Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38585027G>CCA405690645RYR1c.1667G>C
c.3064G>C
c.3036G>C
n.124G>C
c.14731G>C (p.Glu4911Gln)
c.14716G>C (p.Glu4906Gln)
c.14713G>C (p.Glu4905Gln)
c.14698G>C (p.Glu4900Gln)
c.14728G>C (p.Glu4910Gln)
c.14644G>C (p.Glu4882Gln)
19g.38585027G=CA2335094970RYR1c.1667G=
c.3064G=
c.3036G=
n.124G=
c.14731G= (p.Glu4911=)
c.14716G= (p.Glu4906=)
c.14713G= (p.Glu4905=)
c.14698G= (p.Glu4900=)
c.14728G= (p.Glu4910=)
c.14644G= (p.Glu4882=)
19g.38585027G>TCA405690647RYR1c.1667G>T
c.3064G>T
c.3036G>T
n.124G>T
c.14731G>T (p.Glu4911Ter)
c.14716G>T (p.Glu4906Ter)
c.14713G>T (p.Glu4905Ter)
c.14698G>T (p.Glu4900Ter)
c.14728G>T (p.Glu4910Ter)
c.14644G>T (p.Glu4882Ter)
19g.38585028A>CCA405690656RYR1c.1668A>C
c.3065A>C
c.3037A>C
n.125A>C
c.14732A>C (p.Glu4911Ala)
c.14717A>C (p.Glu4906Ala)
c.14714A>C (p.Glu4905Ala)
c.14699A>C (p.Glu4900Ala)
c.14729A>C (p.Glu4910Ala)
c.14645A>C (p.Glu4882Ala)
19g.38585028A>GCA405690652RYR1c.1668A>G
c.3065A>G
c.3037A>G
n.125A>G
c.14732A>G (p.Glu4911Gly)
c.14717A>G (p.Glu4906Gly)
c.14714A>G (p.Glu4905Gly)
c.14699A>G (p.Glu4900Gly)
c.14729A>G (p.Glu4910Gly)
c.14645A>G (p.Glu4882Gly)
19g.38585028A>TCA405690650RYR1c.1668A>T
c.3065A>T
c.3037A>T
n.125A>T
c.14732A>T (p.Glu4911Val)
c.14717A>T (p.Glu4906Val)
c.14714A>T (p.Glu4905Val)
c.14699A>T (p.Glu4900Val)
c.14729A>T (p.Glu4910Val)
c.14645A>T (p.Glu4882Val)
19g.38585029G>ACA507246383RYR1c.1669G>A
c.3066G>A
c.3038G>A
n.126G>A
c.14733G>A (p.Glu4911=)
c.14718G>A (p.Glu4906=)
c.14715G>A (p.Glu4905=)
c.14700G>A (p.Glu4900=)
c.14730G>A (p.Glu4910=)
c.14646G>A (p.Glu4882=)
 ClinVar
19g.38585029G>CCA405690659RYR1c.1669G>C
c.3066G>C
c.3038G>C
n.126G>C
c.14733G>C (p.Glu4911Asp)
c.14718G>C (p.Glu4906Asp)
c.14715G>C (p.Glu4905Asp)
c.14700G>C (p.Glu4900Asp)
c.14730G>C (p.Glu4910Asp)
c.14646G>C (p.Glu4882Asp)
19g.38585029G>TCA405690661RYR1c.1669G>T
c.3066G>T
c.3038G>T
n.126G>T
c.14733G>T (p.Glu4911Asp)
c.14718G>T (p.Glu4906Asp)
c.14715G>T (p.Glu4905Asp)
c.14700G>T (p.Glu4900Asp)
c.14730G>T (p.Glu4910Asp)
c.14646G>T (p.Glu4882Asp)
19g.38585030C>ACA405690663RYR1c.1670C>A
c.3067C>A
c.3039C>A
n.127C>A
c.14734C>A (p.Leu4912Ile)
c.14719C>A (p.Leu4907Ile)
c.14716C>A (p.Leu4906Ile)
c.14701C>A (p.Leu4901Ile)
c.14731C>A (p.Leu4911Ile)
c.14647C>A (p.Leu4883Ile)
19g.38585030C>GCA405690669RYR1c.1670C>G
c.3067C>G
c.3039C>G
n.127C>G
c.14734C>G (p.Leu4912Val)
c.14719C>G (p.Leu4907Val)
c.14716C>G (p.Leu4906Val)
c.14701C>G (p.Leu4901Val)
c.14731C>G (p.Leu4911Val)
c.14647C>G (p.Leu4883Val)
19g.38585030C>TCA405690672RYR1c.1670C>T
c.3067C>T
c.3039C>T
n.127C>T
c.14734C>T (p.Leu4912Phe)
c.14719C>T (p.Leu4907Phe)
c.14716C>T (p.Leu4906Phe)
c.14701C>T (p.Leu4901Phe)
c.14731C>T (p.Leu4911Phe)
c.14647C>T (p.Leu4883Phe)
 gnomAD v4
19g.38585031T>ACA405690679RYR1c.1671T>A
c.3068T>A
c.3040T>A
n.128T>A
c.14735T>A (p.Leu4912His)
c.14720T>A (p.Leu4907His)
c.14717T>A (p.Leu4906His)
c.14702T>A (p.Leu4901His)
c.14732T>A (p.Leu4911His)
c.14648T>A (p.Leu4883His)
19g.38585031T>CCA405690681RYR1c.1671T>C
c.3068T>C
c.3040T>C
n.128T>C
c.14735T>C (p.Leu4912Pro)
c.14720T>C (p.Leu4907Pro)
c.14717T>C (p.Leu4906Pro)
c.14702T>C (p.Leu4901Pro)
c.14732T>C (p.Leu4911Pro)
c.14648T>C (p.Leu4883Pro)
 ClinVar
19g.38585031T>GCA405690684RYR1c.1671T>G
c.3068T>G
c.3040T>G
n.128T>G
c.14735T>G (p.Leu4912Arg)
c.14720T>G (p.Leu4907Arg)
c.14717T>G (p.Leu4906Arg)
c.14702T>G (p.Leu4901Arg)
c.14732T>G (p.Leu4911Arg)
c.14648T>G (p.Leu4883Arg)
19g.38585032C>ACA507246384RYR1c.1672C>A
c.3069C>A
c.3041C>A
n.129C>A
c.14736C>A (p.Leu4912=)
c.14721C>A (p.Leu4907=)
c.14718C>A (p.Leu4906=)
c.14703C>A (p.Leu4901=)
c.14733C>A (p.Leu4911=)
c.14649C>A (p.Leu4883=)
19g.38585032C=CA2335094971RYR1c.1672C=
c.3069C=
c.3041C=
n.129C=
c.14736C= (p.Leu4912=)
c.14721C= (p.Leu4907=)
c.14718C= (p.Leu4906=)
c.14703C= (p.Leu4901=)
c.14733C= (p.Leu4911=)
c.14649C= (p.Leu4883=)
19g.38585032C>GCA507246385RYR1c.1672C>G
c.3069C>G
c.3041C>G
n.129C>G
c.14736C>G (p.Leu4912=)
c.14721C>G (p.Leu4907=)
c.14718C>G (p.Leu4906=)
c.14703C>G (p.Leu4901=)
c.14733C>G (p.Leu4911=)
c.14649C>G (p.Leu4883=)
 dbSNP gnomAD v2 gnomAD v4
19g.38585032C>TCA507246386RYR1c.1672C>T
c.3069C>T
c.3041C>T
n.129C>T
c.14736C>T (p.Leu4912=)
c.14721C>T (p.Leu4907=)
c.14718C>T (p.Leu4906=)
c.14703C>T (p.Leu4901=)
c.14733C>T (p.Leu4911=)
c.14649C>T (p.Leu4883=)
19g.38585033T>ACA405690695RYR1c.1673T>A
c.3070T>A
c.3042T>A
n.130T>A
c.14737T>A (p.Tyr4913Asn)
c.14722T>A (p.Tyr4908Asn)
c.14719T>A (p.Tyr4907Asn)
c.14704T>A (p.Tyr4902Asn)
c.14734T>A (p.Tyr4912Asn)
c.14650T>A (p.Tyr4884Asn)
 ClinVar
19g.38585033T>CCA405690698RYR1c.1673T>C
c.3070T>C
c.3042T>C
n.130T>C
c.14737T>C (p.Tyr4913His)
c.14722T>C (p.Tyr4908His)
c.14719T>C (p.Tyr4907His)
c.14704T>C (p.Tyr4902His)
c.14734T>C (p.Tyr4912His)
c.14650T>C (p.Tyr4884His)
 gnomAD v4
19g.38585033T>GCA405690700RYR1c.1673T>G
c.3070T>G
c.3042T>G
n.130T>G
c.14737T>G (p.Tyr4913Asp)
c.14722T>G (p.Tyr4908Asp)
c.14719T>G (p.Tyr4907Asp)
c.14704T>G (p.Tyr4902Asp)
c.14734T>G (p.Tyr4912Asp)
c.14650T>G (p.Tyr4884Asp)
19g.38585034A=CA2335094972RYR1c.1674A=
c.3071A=
c.3043A=
n.131A=
c.14738A= (p.Tyr4913=)
c.14723A= (p.Tyr4908=)
c.14720A= (p.Tyr4907=)
c.14705A= (p.Tyr4902=)
c.14735A= (p.Tyr4912=)
c.14651A= (p.Tyr4884=)
19g.38585034A>CCA405690705RYR1c.1674A>C
c.3071A>C
c.3043A>C
n.131A>C
c.14738A>C (p.Tyr4913Ser)
c.14723A>C (p.Tyr4908Ser)
c.14720A>C (p.Tyr4907Ser)
c.14705A>C (p.Tyr4902Ser)
c.14735A>C (p.Tyr4912Ser)
c.14651A>C (p.Tyr4884Ser)
 gnomAD v4
19g.38585034A>GCA405690708RYR1c.1674A>G
c.3071A>G
c.3043A>G
n.131A>G
c.14738A>G (p.Tyr4913Cys)
c.14723A>G (p.Tyr4908Cys)
c.14720A>G (p.Tyr4907Cys)
c.14705A>G (p.Tyr4902Cys)
c.14735A>G (p.Tyr4912Cys)
c.14651A>G (p.Tyr4884Cys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38585034A>TCA405690704RYR1c.1674A>T
c.3071A>T
c.3043A>T
n.131A>T
c.14738A>T (p.Tyr4913Phe)
c.14723A>T (p.Tyr4908Phe)
c.14720A>T (p.Tyr4907Phe)
c.14705A>T (p.Tyr4902Phe)
c.14735A>T (p.Tyr4912Phe)
c.14651A>T (p.Tyr4884Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38585035C>ACA405690711RYR1c.1675C>A
c.3072C>A
c.3044C>A
n.132C>A
c.14739C>A (p.Tyr4913Ter)
c.14724C>A (p.Tyr4908Ter)
c.14721C>A (p.Tyr4907Ter)
c.14706C>A (p.Tyr4902Ter)
c.14736C>A (p.Tyr4912Ter)
c.14652C>A (p.Tyr4884Ter)
19g.38585035C=CA2335094973RYR1c.1675C=
c.3072C=
c.3044C=
n.132C=
c.14739C= (p.Tyr4913=)
c.14724C= (p.Tyr4908=)
c.14721C= (p.Tyr4907=)
c.14706C= (p.Tyr4902=)
c.14736C= (p.Tyr4912=)
c.14652C= (p.Tyr4884=)
19g.38585035C>GCA405690714RYR1c.1675C>G
c.3072C>G
c.3044C>G
n.132C>G
c.14739C>G (p.Tyr4913Ter)
c.14724C>G (p.Tyr4908Ter)
c.14721C>G (p.Tyr4907Ter)
c.14706C>G (p.Tyr4902Ter)
c.14736C>G (p.Tyr4912Ter)
c.14652C>G (p.Tyr4884Ter)
19g.38585035C>TCA507246387RYR1c.1675C>T
c.3072C>T
c.3044C>T
n.132C>T
c.14739C>T (p.Tyr4913=)
c.14724C>T (p.Tyr4908=)
c.14721C>T (p.Tyr4907=)
c.14706C>T (p.Tyr4902=)
c.14736C>T (p.Tyr4912=)
c.14652C>T (p.Tyr4884=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38585036A=CA2335094974RYR1c.1676A=
c.3073A=
c.3045A=
n.133A=
c.14740A= (p.Arg4914=)
c.14725A= (p.Arg4909=)
c.14722A= (p.Arg4908=)
c.14707A= (p.Arg4903=)
c.14737A= (p.Arg4913=)
c.14653A= (p.Arg4885=)
19g.38585036A>CCA507246388RYR1c.1676A>C
c.3073A>C
c.3045A>C
n.133A>C
c.14740A>C (p.Arg4914=)
c.14725A>C (p.Arg4909=)
c.14722A>C (p.Arg4908=)
c.14707A>C (p.Arg4903=)
c.14737A>C (p.Arg4913=)
c.14653A>C (p.Arg4885=)
19g.38585036A>GCA024242RYR1c.1676A>G
c.3073A>G
c.3045A>G
n.133A>G
c.14740A>G (p.Arg4914Gly)
c.14725A>G (p.Arg4909Gly)
c.14722A>G (p.Arg4908Gly)
c.14707A>G (p.Arg4903Gly)
c.14737A>G (p.Arg4913Gly)
c.14653A>G (p.Arg4885Gly)
 ClinVar dbSNP
19g.38585036A>TCA405690726RYR1c.1676A>T
c.3073A>T
c.3045A>T
n.133A>T
c.14740A>T (p.Arg4914Trp)
c.14725A>T (p.Arg4909Trp)
c.14722A>T (p.Arg4908Trp)
c.14707A>T (p.Arg4903Trp)
c.14737A>T (p.Arg4913Trp)
c.14653A>T (p.Arg4885Trp)
19g.38585037G>ACA405690729RYR1c.1677G>A
c.3074G>A
c.3046G>A
n.134G>A
c.14741G>A (p.Arg4914Lys)
c.14726G>A (p.Arg4909Lys)
c.14723G>A (p.Arg4908Lys)
c.14708G>A (p.Arg4903Lys)
c.14738G>A (p.Arg4913Lys)
c.14654G>A (p.Arg4885Lys)
19g.38585037G>CCA024244RYR1c.1677G>C
c.3074G>C
c.3046G>C
n.134G>C
c.14741G>C (p.Arg4914Thr)
c.14726G>C (p.Arg4909Thr)
c.14723G>C (p.Arg4908Thr)
c.14708G>C (p.Arg4903Thr)
c.14738G>C (p.Arg4913Thr)
c.14654G>C (p.Arg4885Thr)
 ClinVar dbSNP
19g.38585037G=CA2335094975RYR1c.1677G=
c.3074G=
c.3046G=
n.134G=
c.14741G= (p.Arg4914=)
c.14726G= (p.Arg4909=)
c.14723G= (p.Arg4908=)
c.14708G= (p.Arg4903=)
c.14738G= (p.Arg4913=)
c.14654G= (p.Arg4885=)
19g.38585037G>TCA405690734RYR1c.1677G>T
c.3074G>T
c.3046G>T
n.134G>T
c.14741G>T (p.Arg4914Met)
c.14726G>T (p.Arg4909Met)
c.14723G>T (p.Arg4908Met)
c.14708G>T (p.Arg4903Met)
c.14738G>T (p.Arg4913Met)
c.14654G>T (p.Arg4885Met)
19g.38585038G>ACA507246389RYR1c.1678G>A
c.3075G>A
c.3047G>A
n.135G>A
c.14742G>A (p.Arg4914=)
c.14727G>A (p.Arg4909=)
c.14724G>A (p.Arg4908=)
c.14709G>A (p.Arg4903=)
c.14739G>A (p.Arg4913=)
c.14655G>A (p.Arg4885=)
 gnomAD v4
19g.38585038G>CCA405690735RYR1c.1678G>C
c.3075G>C
c.3047G>C
n.135G>C
c.14742G>C (p.Arg4914Ser)
c.14727G>C (p.Arg4909Ser)
c.14724G>C (p.Arg4908Ser)
c.14709G>C (p.Arg4903Ser)
c.14739G>C (p.Arg4913Ser)
c.14655G>C (p.Arg4885Ser)
19g.38585038G>TCA405690736RYR1c.1678G>T
c.3075G>T
c.3047G>T
n.135G>T
c.14742G>T (p.Arg4914Ser)
c.14727G>T (p.Arg4909Ser)
c.14724G>T (p.Arg4908Ser)
c.14709G>T (p.Arg4903Ser)
c.14739G>T (p.Arg4913Ser)
c.14655G>T (p.Arg4885Ser)
19g.38585039G>ACA405690737RYR1c.1679G>A
c.3076G>A
c.3048G>A
n.136G>A
c.14743G>A (p.Val4915Met)
c.14728G>A (p.Val4910Met)
c.14725G>A (p.Val4909Met)
c.14710G>A (p.Val4904Met)
c.14740G>A (p.Val4914Met)
c.14656G>A (p.Val4886Met)
19g.38585039G>CCA405690738RYR1c.1679G>C
c.3076G>C
c.3048G>C
n.136G>C
c.14743G>C (p.Val4915Leu)
c.14728G>C (p.Val4910Leu)
c.14725G>C (p.Val4909Leu)
c.14710G>C (p.Val4904Leu)
c.14740G>C (p.Val4914Leu)
c.14656G>C (p.Val4886Leu)
19g.38585039G>TCA405690740RYR1c.1679G>T
c.3076G>T
c.3048G>T
n.136G>T
c.14743G>T (p.Val4915Leu)
c.14728G>T (p.Val4910Leu)
c.14725G>T (p.Val4909Leu)
c.14710G>T (p.Val4904Leu)
c.14740G>T (p.Val4914Leu)
c.14656G>T (p.Val4886Leu)
19g.38585040T>ACA405690750RYR1c.1680T>A
c.3077T>A
c.3049T>A
n.137T>A
c.14744T>A (p.Val4915Glu)
c.14729T>A (p.Val4910Glu)
c.14726T>A (p.Val4909Glu)
c.14711T>A (p.Val4904Glu)
c.14741T>A (p.Val4914Glu)
c.14657T>A (p.Val4886Glu)
19g.38585040T>CCA405690741RYR1c.1680T>C
c.3077T>C
c.3049T>C
n.137T>C
c.14744T>C (p.Val4915Ala)
c.14729T>C (p.Val4910Ala)
c.14726T>C (p.Val4909Ala)
c.14711T>C (p.Val4904Ala)
c.14741T>C (p.Val4914Ala)
c.14657T>C (p.Val4886Ala)
19g.38585040T>GCA405690743RYR1c.1680T>G
c.3077T>G
c.3049T>G
n.137T>G
c.14744T>G (p.Val4915Gly)
c.14729T>G (p.Val4910Gly)
c.14726T>G (p.Val4909Gly)
c.14711T>G (p.Val4904Gly)
c.14741T>G (p.Val4914Gly)
c.14657T>G (p.Val4886Gly)
19g.38585041G>ACA507246390RYR1c.1681G>A
c.3078G>A
c.3050G>A
n.138G>A
c.14745G>A (p.Val4915=)
c.14730G>A (p.Val4910=)
c.14727G>A (p.Val4909=)
c.14712G>A (p.Val4904=)
c.14742G>A (p.Val4914=)
c.14658G>A (p.Val4886=)
19g.38585041G>CCA061570RYR1c.1681G>C
c.3078G>C
c.3050G>C
n.138G>C
c.14745G>C (p.Val4915=)
c.14730G>C (p.Val4910=)
c.14727G>C (p.Val4909=)
c.14712G>C (p.Val4904=)
c.14742G>C (p.Val4914=)
c.14658G>C (p.Val4886=)
 dbSNP ExAC
19g.38585041G=CA2335094976RYR1c.1681G=
c.3078G=
c.3050G=
n.138G=
c.14745G= (p.Val4915=)
c.14730G= (p.Val4910=)
c.14727G= (p.Val4909=)
c.14712G= (p.Val4904=)
c.14742G= (p.Val4914=)
c.14658G= (p.Val4886=)
19g.38585041G>TCA507246391RYR1c.1681G>T
c.3078G>T
c.3050G>T
n.138G>T
c.14745G>T (p.Val4915=)
c.14730G>T (p.Val4910=)
c.14727G>T (p.Val4909=)
c.14712G>T (p.Val4904=)
c.14742G>T (p.Val4914=)
c.14658G>T (p.Val4886=)
19g.38585042G>ACA405690753RYR1c.1682G>A
c.3079G>A
c.3051G>A
n.139G>A
c.14746G>A (p.Val4916Ile)
c.14731G>A (p.Val4911Ile)
c.14728G>A (p.Val4910Ile)
c.14713G>A (p.Val4905Ile)
c.14743G>A (p.Val4915Ile)
c.14659G>A (p.Val4887Ile)
 dbSNP
19g.38585042G>CCA405690757RYR1c.1682G>C
c.3079G>C
c.3051G>C
n.139G>C
c.14746G>C (p.Val4916Leu)
c.14731G>C (p.Val4911Leu)
c.14728G>C (p.Val4910Leu)
c.14713G>C (p.Val4905Leu)
c.14743G>C (p.Val4915Leu)
c.14659G>C (p.Val4887Leu)
19g.38585042G=CA2335094977RYR1c.1682G=
c.3079G=
c.3051G=
n.139G=
c.14746G= (p.Val4916=)
c.14731G= (p.Val4911=)
c.14728G= (p.Val4910=)
c.14713G= (p.Val4905=)
c.14743G= (p.Val4915=)
c.14659G= (p.Val4887=)
19g.38585042G>TCA405690759RYR1c.1682G>T
c.3079G>T
c.3051G>T
n.139G>T
c.14746G>T (p.Val4916Phe)
c.14731G>T (p.Val4911Phe)
c.14728G>T (p.Val4910Phe)
c.14713G>T (p.Val4905Phe)
c.14743G>T (p.Val4915Phe)
c.14659G>T (p.Val4887Phe)
19g.38585043T>ACA405690763RYR1c.1683T>A
c.3080T>A
c.3052T>A
n.140T>A
c.14747T>A (p.Val4916Asp)
c.14732T>A (p.Val4911Asp)
c.14729T>A (p.Val4910Asp)
c.14714T>A (p.Val4905Asp)
c.14744T>A (p.Val4915Asp)
c.14660T>A (p.Val4887Asp)
19g.38585043T>CCA405690768RYR1c.1683T>C
c.3080T>C
c.3052T>C
n.140T>C
c.14747T>C (p.Val4916Ala)
c.14732T>C (p.Val4911Ala)
c.14729T>C (p.Val4910Ala)
c.14714T>C (p.Val4905Ala)
c.14744T>C (p.Val4915Ala)
c.14660T>C (p.Val4887Ala)
19g.38585043T>GCA405690769RYR1c.1683T>G
c.3080T>G
c.3052T>G
n.140T>G
c.14747T>G (p.Val4916Gly)
c.14732T>G (p.Val4911Gly)
c.14729T>G (p.Val4910Gly)
c.14714T>G (p.Val4905Gly)
c.14744T>G (p.Val4915Gly)
c.14660T>G (p.Val4887Gly)
19g.38585044C>ACA507246392RYR1c.1684C>A
c.3081C>A
c.3053C>A
n.141C>A
c.14748C>A (p.Val4916=)
c.14733C>A (p.Val4911=)
c.14730C>A (p.Val4910=)
c.14715C>A (p.Val4905=)
c.14745C>A (p.Val4915=)
c.14661C>A (p.Val4887=)
 dbSNP gnomAD v2 gnomAD v4
19g.38585044C=CA2335094978RYR1c.1684C=
c.3081C=
c.3053C=
n.141C=
c.14748C= (p.Val4916=)
c.14733C= (p.Val4911=)
c.14730C= (p.Val4910=)
c.14715C= (p.Val4905=)
c.14745C= (p.Val4915=)
c.14661C= (p.Val4887=)
19g.38585044C>GCA507246393RYR1c.1684C>G
c.3081C>G
c.3053C>G
n.141C>G
c.14748C>G (p.Val4916=)
c.14733C>G (p.Val4911=)
c.14730C>G (p.Val4910=)
c.14715C>G (p.Val4905=)
c.14745C>G (p.Val4915=)
c.14661C>G (p.Val4887=)
19g.38585044C>TCA507246394RYR1c.1684C>T
c.3081C>T
c.3053C>T
n.141C>T
c.14748C>T (p.Val4916=)
c.14733C>T (p.Val4911=)
c.14730C>T (p.Val4910=)
c.14715C>T (p.Val4905=)
c.14745C>T (p.Val4915=)
c.14661C>T (p.Val4887=)
19g.38585045T>ACA405690772RYR1c.1685T>A
c.3082T>A
c.3054T>A
n.142T>A
c.14749T>A (p.Phe4917Ile)
c.14734T>A (p.Phe4912Ile)
c.14731T>A (p.Phe4911Ile)
c.14716T>A (p.Phe4906Ile)
c.14746T>A (p.Phe4916Ile)
c.14662T>A (p.Phe4888Ile)
 ClinVar
19g.38585045T>CCA405690775RYR1c.1685T>C
c.3082T>C
c.3054T>C
n.142T>C
c.14749T>C (p.Phe4917Leu)
c.14734T>C (p.Phe4912Leu)
c.14731T>C (p.Phe4911Leu)
c.14716T>C (p.Phe4906Leu)
c.14746T>C (p.Phe4916Leu)
c.14662T>C (p.Phe4888Leu)
 ClinVar dbSNP
19g.38585045T>GCA405690776RYR1c.1685T>G
c.3082T>G
c.3054T>G
n.142T>G
c.14749T>G (p.Phe4917Val)
c.14734T>G (p.Phe4912Val)
c.14731T>G (p.Phe4911Val)
c.14716T>G (p.Phe4906Val)
c.14746T>G (p.Phe4916Val)
c.14662T>G (p.Phe4888Val)
19g.38585045T=CA2335094979RYR1c.1685T=
c.3082T=
c.3054T=
n.142T=
c.14749T= (p.Phe4917=)
c.14734T= (p.Phe4912=)
c.14731T= (p.Phe4911=)
c.14716T= (p.Phe4906=)
c.14746T= (p.Phe4916=)
c.14662T= (p.Phe4888=)
19g.38585046T>ACA405690785RYR1c.1686T>A
c.3083T>A
c.3055T>A
n.143T>A
c.14750T>A (p.Phe4917Tyr)
c.14735T>A (p.Phe4912Tyr)
c.14732T>A (p.Phe4911Tyr)
c.14717T>A (p.Phe4906Tyr)
c.14747T>A (p.Phe4916Tyr)
c.14663T>A (p.Phe4888Tyr)
19g.38585046T>CCA405690786RYR1c.1686T>C
c.3083T>C
c.3055T>C
n.143T>C
c.14750T>C (p.Phe4917Ser)
c.14735T>C (p.Phe4912Ser)
c.14732T>C (p.Phe4911Ser)
c.14717T>C (p.Phe4906Ser)
c.14747T>C (p.Phe4916Ser)
c.14663T>C (p.Phe4888Ser)
19g.38585046T>GCA405690789RYR1c.1686T>G
c.3083T>G
c.3055T>G
n.143T>G
c.14750T>G (p.Phe4917Cys)
c.14735T>G (p.Phe4912Cys)
c.14732T>G (p.Phe4911Cys)
c.14717T>G (p.Phe4906Cys)
c.14747T>G (p.Phe4916Cys)
c.14663T>G (p.Phe4888Cys)

Number of alleles fetched