Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38504229A=CA2335055572RYR1c.7936A= (p.Asn2646=)
c.7933A= (p.Asn2645=)
c.1388A=
n.8019A=
19g.38504229A>CCA405675407RYR1c.7936A>C (p.Asn2646His)
c.7933A>C (p.Asn2645His)
c.1388A>C
n.8019A>C
19g.38504229A>GCA071140RYR1c.7936A>G (p.Asn2646Asp)
c.7933A>G (p.Asn2645Asp)
c.1388A>G
n.8019A>G
 ClinVar dbSNP ExAC gnomAD v2
19g.38504229A>TCA405675403RYR1c.7936A>T (p.Asn2646Tyr)
c.7933A>T (p.Asn2645Tyr)
c.1388A>T
n.8019A>T
19g.38504230A>CCA405675416RYR1c.7937A>C (p.Asn2646Thr)
c.7934A>C (p.Asn2645Thr)
c.1389A>C
n.8020A>C
 gnomAD v4
19g.38504230A>GCA405675425RYR1c.7937A>G (p.Asn2646Ser)
c.7934A>G (p.Asn2645Ser)
c.1389A>G
n.8020A>G
19g.38504230A>TCA405675428RYR1c.7937A>T (p.Asn2646Ile)
c.7934A>T (p.Asn2645Ile)
c.1389A>T
n.8020A>T
19g.38504231C>ACA405675431RYR1c.7938C>A (p.Asn2646Lys)
c.7935C>A (p.Asn2645Lys)
c.1390C>A
n.8021C>A
19g.38504231C=CA2335055573RYR1c.7938C= (p.Asn2646=)
c.7935C= (p.Asn2645=)
c.1390C=
n.8021C=
19g.38504231C>GCA405675432RYR1c.7938C>G (p.Asn2646Lys)
c.7935C>G (p.Asn2645Lys)
c.1390C>G
n.8021C>G
19g.38504231C>TCA071145RYR1c.7938C>T (p.Asn2646=)
c.7935C>T (p.Asn2645=)
c.1390C>T
n.8021C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38504232C>ACA405675433RYR1c.7939C>A (p.His2647Asn)
c.7936C>A (p.His2646Asn)
c.1391C>A
n.8022C>A
 gnomAD v4
19g.38504232C>GCA405675435RYR1c.7939C>G (p.His2647Asp)
c.7936C>G (p.His2646Asp)
c.1391C>G
n.8022C>G
19g.38504232C>TCA405675434RYR1c.7939C>T (p.His2647Tyr)
c.7936C>T (p.His2646Tyr)
c.1391C>T
n.8022C>T
 gnomAD v4
19g.38504233A>CCA405675438RYR1c.7940A>C (p.His2647Pro)
c.7937A>C (p.His2646Pro)
c.1392A>C
n.8023A>C
19g.38504233A>GCA405675439RYR1c.7940A>G (p.His2647Arg)
c.7937A>G (p.His2646Arg)
c.1392A>G
n.8023A>G
19g.38504233A>TCA405675440RYR1c.7940A>T (p.His2647Leu)
c.7937A>T (p.His2646Leu)
c.1392A>T
n.8023A>T
19g.38504234C>ACA405675441RYR1c.7941C>A (p.His2647Gln)
c.7938C>A (p.His2646Gln)
c.1393C>A
n.8024C>A
19g.38504234C=CA2335055574RYR1c.7941C= (p.His2647=)
c.7938C= (p.His2646=)
c.1393C=
n.8024C=
19g.38504234C>GCA071151RYR1c.7941C>G (p.His2647Gln)
c.7938C>G (p.His2646Gln)
c.1393C>G
n.8024C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38504234C>TCA082944RYR1c.7941C>T (p.His2647=)
c.7938C>T (p.His2646=)
c.1393C>T
n.8024C>T
 gnomAD v4
19g.38504235T>ACA405675447RYR1c.7942T>A (p.Tyr2648Asn)
c.7939T>A (p.Tyr2647Asn)
c.1394T>A
n.8025T>A
19g.38504235T>CCA405675444RYR1c.7942T>C (p.Tyr2648His)
c.7939T>C (p.Tyr2647His)
c.1394T>C
n.8025T>C
19g.38504235T>GCA405675443RYR1c.7942T>G (p.Tyr2648Asp)
c.7939T>G (p.Tyr2647Asp)
c.1394T>G
n.8025T>G
19g.38504236A>CCA405675454RYR1c.7943A>C (p.Tyr2648Ser)
c.7940A>C (p.Tyr2647Ser)
c.1395A>C
n.8026A>C
19g.38504236A>GCA405675451RYR1c.7943A>G (p.Tyr2648Cys)
c.7940A>G (p.Tyr2647Cys)
c.1395A>G
n.8026A>G
 ClinVar COSMIC
19g.38504236A>TCA405675457RYR1c.7943A>T (p.Tyr2648Phe)
c.7940A>T (p.Tyr2647Phe)
c.1395A>T
n.8026A>T
19g.38504237T>ACA405675458RYR1c.7944T>A (p.Tyr2648Ter)
c.7941T>A (p.Tyr2647Ter)
c.1396T>A
n.8027T>A
19g.38504237T>CCA507244147RYR1c.7944T>C (p.Tyr2648=)
c.7941T>C (p.Tyr2647=)
c.1396T>C
n.8027T>C
19g.38504237T>GCA405675461RYR1c.7944T>G (p.Tyr2648Ter)
c.7941T>G (p.Tyr2647Ter)
c.1396T>G
n.8027T>G
 gnomAD v4
19g.38504238G>ACA405675466RYR1c.7945G>A (p.Glu2649Lys)
c.7942G>A (p.Glu2648Lys)
c.1397G>A
n.8028G>A
19g.38504238G>CCA405675470RYR1c.7945G>C (p.Glu2649Gln)
c.7942G>C (p.Glu2648Gln)
c.1397G>C
n.8028G>C
19g.38504238G>TCA405675476RYR1c.7945G>T (p.Glu2649Ter)
c.7942G>T (p.Glu2648Ter)
c.1397G>T
n.8028G>T
19g.38504239A>CCA405675478RYR1c.7946A>C (p.Glu2649Ala)
c.7943A>C (p.Glu2648Ala)
c.1398A>C
n.8029A>C
19g.38504239A>GCA405675482RYR1c.7946A>G (p.Glu2649Gly)
c.7943A>G (p.Glu2648Gly)
c.1398A>G
n.8029A>G
19g.38504239A>TCA405675484RYR1c.7946A>T (p.Glu2649Val)
c.7943A>T (p.Glu2648Val)
c.1398A>T
n.8029A>T
19g.38504240G>ACA507244149RYR1c.7947G>A (p.Glu2649=)
c.7944G>A (p.Glu2648=)
c.1399G>A
n.8030G>A
 COSMIC
19g.38504240G>CCA405675488RYR1c.7947G>C (p.Glu2649Asp)
c.7944G>C (p.Glu2648Asp)
c.1399G>C
n.8030G>C
19g.38504240G>TCA405675490RYR1c.7947G>T (p.Glu2649Asp)
c.7944G>T (p.Glu2648Asp)
c.1399G>T
n.8030G>T
19g.38504241C>ACA405675496RYR1c.7948C>A (p.Arg2650Ser)
c.7945C>A (p.Arg2649Ser)
c.1400C>A
n.8031C>A
 gnomAD v4
19g.38504241C=CA2335055575RYR1c.7948C= (p.Arg2650=)
c.7945C= (p.Arg2649=)
c.1400C=
n.8031C=
19g.38504241C>GCA405675498RYR1c.7948C>G (p.Arg2650Gly)
c.7945C>G (p.Arg2649Gly)
c.1400C>G
n.8031C>G
 gnomAD v4
19g.38504241C>TCA405675509RYR1c.7948C>T (p.Arg2650Cys)
c.7945C>T (p.Arg2649Cys)
c.1400C>T
n.8031C>T
 ClinVar dbSNP gnomAD v4
19g.38504242G>ACA071152RYR1c.7949G>A (p.Arg2650His)
c.7946G>A (p.Arg2649His)
c.1401G>A
n.8032G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38504242G>CCA405675516RYR1c.7949G>C (p.Arg2650Pro)
c.7946G>C (p.Arg2649Pro)
c.1401G>C
n.8032G>C
19g.38504242G=CA2335055576RYR1c.7949G= (p.Arg2650=)
c.7946G= (p.Arg2649=)
c.1401G=
n.8032G=
19g.38504242G>TCA405675517RYR1c.7949G>T (p.Arg2650Leu)
c.7946G>T (p.Arg2649Leu)
c.1401G>T
n.8032G>T
 dbSNP COSMIC
19g.38504243C>ACA507244150RYR1c.7950C>A (p.Arg2650=)
c.7947C>A (p.Arg2649=)
c.1402C>A
n.8033C>A
 dbSNP
19g.38504243C=CA2335055577RYR1c.7950C= (p.Arg2650=)
c.7947C= (p.Arg2649=)
c.1402C=
n.8033C=
19g.38504243C>GCA507244151RYR1c.7950C>G (p.Arg2650=)
c.7947C>G (p.Arg2649=)
c.1402C>G
n.8033C>G
19g.38504243C>TCA507244152RYR1c.7950C>T (p.Arg2650=)
c.7947C>T (p.Arg2649=)
c.1402C>T
n.8033C>T
 dbSNP gnomAD v3 gnomAD v4 COSMIC
19g.38504244T>ACA405675518RYR1c.7951T>A (p.Cys2651Ser)
c.7948T>A (p.Cys2650Ser)
c.1403T>A
n.8034T>A
 gnomAD v4
19g.38504244T>CCA405675519RYR1c.7951T>C (p.Cys2651Arg)
c.7948T>C (p.Cys2650Arg)
c.1403T>C
n.8034T>C
19g.38504244T>GCA405675522RYR1c.7951T>G (p.Cys2651Gly)
c.7948T>G (p.Cys2650Gly)
c.1403T>G
n.8034T>G
19g.38504245G>ACA071159RYR1c.7952G>A (p.Cys2651Tyr)
c.7949G>A (p.Cys2650Tyr)
c.1404G>A
n.8035G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38504245G>CCA405675525RYR1c.7952G>C (p.Cys2651Ser)
c.7949G>C (p.Cys2650Ser)
c.1404G>C
n.8035G>C
 gnomAD v4
19g.38504245G=CA2335055578RYR1c.7952G= (p.Cys2651=)
c.7949G= (p.Cys2650=)
c.1404G=
n.8035G=
19g.38504245G>TCA405675526RYR1c.7952G>T (p.Cys2651Phe)
c.7949G>T (p.Cys2650Phe)
c.1404G>T
n.8035G>T
19g.38504246T>ACA082946RYR1c.7953T>A (p.Cys2651Ter)
c.7950T>A (p.Cys2650Ter)
c.1405T>A
n.8036T>A
19g.38504246T>CCA507244156RYR1c.7953T>C (p.Cys2651=)
c.7950T>C (p.Cys2650=)
c.1405T>C
n.8036T>C
19g.38504246T>GCA405675529RYR1c.7953T>G (p.Cys2651Trp)
c.7950T>G (p.Cys2650Trp)
c.1405T>G
n.8036T>G
19g.38504247dupCA915953000RYR1c.7954dup (p.Trp2652LeufsTer?)
c.7951dup (p.Trp2651LeufsTer?)
c.1406dup
n.8037dup
 ClinVar dbSNP
19g.38504247T>ACA405675535RYR1c.7954T>A (p.Trp2652Arg)
c.7951T>A (p.Trp2651Arg)
c.1406T>A
n.8037T>A
19g.38504247T>CCA405675537RYR1c.7954T>C (p.Trp2652Arg)
c.7951T>C (p.Trp2651Arg)
c.1406T>C
n.8037T>C
19g.38504247T>GCA405675545RYR1c.7954T>G (p.Trp2652Gly)
c.7951T>G (p.Trp2651Gly)
c.1406T>G
n.8037T>G
19g.38504248G>ACA082993RYR1c.7955G>A (p.Trp2652Ter)
c.7952G>A (p.Trp2651Ter)
c.1407G>A
n.8038G>A
19g.38504248G>CCA405675553RYR1c.7955G>C (p.Trp2652Ser)
c.7952G>C (p.Trp2651Ser)
c.1407G>C
n.8038G>C
19g.38504248G>TCA405675548RYR1c.7955G>T (p.Trp2652Leu)
c.7952G>T (p.Trp2651Leu)
c.1407G>T
n.8038G>T
 gnomAD v4
19g.38504249delCA2739276819RYR1c.7956del (p.Trp2652Ter)
c.7953del (p.Trp2651Ter)
c.1408del
n.8039del
 ClinVar
19g.38504249G>ACA405675557RYR1c.7956G>A (p.Trp2652Ter)
c.7953G>A (p.Trp2651Ter)
c.1408G>A
n.8039G>A
 gnomAD v4
19g.38504249G>CCA405675562RYR1c.7956G>C (p.Trp2652Cys)
c.7953G>C (p.Trp2651Cys)
c.1408G>C
n.8039G>C
19g.38504249G>TCA405675563RYR1c.7956G>T (p.Trp2652Cys)
c.7953G>T (p.Trp2651Cys)
c.1408G>T
n.8039G>T
19g.38504250A>CCA405675571RYR1c.7957A>C (p.Lys2653Gln)
c.7954A>C (p.Lys2652Gln)
c.1409A>C
n.8040A>C
19g.38504250A>GCA082948RYR1c.7957A>G (p.Lys2653Glu)
c.7954A>G (p.Lys2652Glu)
c.1409A>G
n.8040A>G
19g.38504250A>TCA405675578RYR1c.7957A>T (p.Lys2653Ter)
c.7954A>T (p.Lys2652Ter)
c.1409A>T
n.8040A>T
19g.38504251A=CA2335055579RYR1c.7958A= (p.Lys2653=)
c.7955A= (p.Lys2652=)
c.1410A=
n.8041A=
19g.38504251A>CCA405675583RYR1c.7958A>C (p.Lys2653Thr)
c.7955A>C (p.Lys2652Thr)
c.1410A>C
n.8041A>C
19g.38504251A>GCA212100RYR1c.7958A>G (p.Lys2653Arg)
c.7955A>G (p.Lys2652Arg)
c.1410A>G
n.8041A>G
 ClinVar dbSNP gnomAD v4
19g.38504251A>TCA405675585RYR1c.7958A>T (p.Lys2653Met)
c.7955A>T (p.Lys2652Met)
c.1410A>T
n.8041A>T
19g.38504252G>ACA071164RYR1c.7959G>A (p.Lys2653=)
c.7956G>A (p.Lys2652=)
c.1411G>A
n.8042G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38504252G>CCA405675587RYR1c.7959G>C (p.Lys2653Asn)
c.7956G>C (p.Lys2652Asn)
c.1411G>C
n.8042G>C
19g.38504252G=CA2335055580RYR1c.7959G= (p.Lys2653=)
c.7956G= (p.Lys2652=)
c.1411G=
n.8042G=
19g.38504252G>TCA405675588RYR1c.7959G>T (p.Lys2653Asn)
c.7956G>T (p.Lys2652Asn)
c.1411G>T
n.8042G>T
19g.38504253T>ACA405675593RYR1c.7960T>A (p.Tyr2654Asn)
c.7957T>A (p.Tyr2653Asn)
c.1412T>A
n.8043T>A
19g.38504253T>CCA405675596RYR1c.7960T>C (p.Tyr2654His)
c.7957T>C (p.Tyr2653His)
c.1412T>C
n.8043T>C
19g.38504253T>GCA405675592RYR1c.7960T>G (p.Tyr2654Asp)
c.7957T>G (p.Tyr2653Asp)
c.1412T>G
n.8043T>G
19g.38504254A>CCA405675598RYR1c.7961A>C (p.Tyr2654Ser)
c.7958A>C (p.Tyr2653Ser)
c.1413A>C
n.8044A>C
19g.38504254A>GCA405675601RYR1c.7961A>G (p.Tyr2654Cys)
c.7958A>G (p.Tyr2653Cys)
c.1413A>G
n.8044A>G
 gnomAD v4
19g.38504254A>TCA405675603RYR1c.7961A>T (p.Tyr2654Phe)
c.7958A>T (p.Tyr2653Phe)
c.1413A>T
n.8044A>T
19g.38504255C>ACA405675607RYR1c.7962C>A (p.Tyr2654Ter)
c.7959C>A (p.Tyr2653Ter)
c.1414C>A
n.8045C>A
19g.38504255C>GCA405675608RYR1c.7962C>G (p.Tyr2654Ter)
c.7959C>G (p.Tyr2653Ter)
c.1414C>G
n.8045C>G
19g.38504255C>TCA082949RYR1c.7962C>T (p.Tyr2654=)
c.7959C>T (p.Tyr2653=)
c.1414C>T
n.8045C>T
19g.38504256T>ACA405675614RYR1c.7963T>A (p.Tyr2655Asn)
c.7960T>A (p.Tyr2654Asn)
c.1415T>A
n.8046T>A
19g.38504256T>CCA405675610RYR1c.7963T>C (p.Tyr2655His)
c.7960T>C (p.Tyr2654His)
c.1415T>C
n.8046T>C
19g.38504256T>GCA405675612RYR1c.7963T>G (p.Tyr2655Asp)
c.7960T>G (p.Tyr2654Asp)
c.1415T>G
n.8046T>G
19g.38504257A=CA2335055581RYR1c.7964A= (p.Tyr2655=)
c.7961A= (p.Tyr2654=)
c.1416A=
n.8047A=
19g.38504257A>CCA405675616RYR1c.7964A>C (p.Tyr2655Ser)
c.7961A>C (p.Tyr2654Ser)
c.1416A>C
n.8047A>C
19g.38504257A>GCA071166RYR1c.7964A>G (p.Tyr2655Cys)
c.7961A>G (p.Tyr2654Cys)
c.1416A>G
n.8047A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38504257A>TCA405675620RYR1c.7964A>T (p.Tyr2655Phe)
c.7961A>T (p.Tyr2654Phe)
c.1416A>T
n.8047A>T
19g.38504258C>ACA405675625RYR1c.7965C>A (p.Tyr2655Ter)
c.7962C>A (p.Tyr2654Ter)
c.1417C>A
n.8048C>A
 COSMIC
19g.38504258C=CA2335055582RYR1c.7965C= (p.Tyr2655=)
c.7962C= (p.Tyr2654=)
c.1417C=
n.8048C=
19g.38504258C>GCA405675629RYR1c.7965C>G (p.Tyr2655Ter)
c.7962C>G (p.Tyr2654Ter)
c.1417C>G
n.8048C>G
19g.38504258C>TCA071172RYR1c.7965C>T (p.Tyr2655=)
c.7962C>T (p.Tyr2654=)
c.1417C>T
n.8048C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38504259T>ACA405675639RYR1c.7966T>A (p.Cys2656Ser)
c.7963T>A (p.Cys2655Ser)
c.1418T>A
n.8049T>A
19g.38504259T>CCA405675640RYR1c.7966T>C (p.Cys2656Arg)
c.7963T>C (p.Cys2655Arg)
c.1418T>C
n.8049T>C
19g.38504259T>GCA405675638RYR1c.7966T>G (p.Cys2656Gly)
c.7963T>G (p.Cys2655Gly)
c.1418T>G
n.8049T>G
19g.38504260G>ACA405675641RYR1c.7967G>A (p.Cys2656Tyr)
c.7964G>A (p.Cys2655Tyr)
c.1419G>A
n.8050G>A
19g.38504260G>CCA405675649RYR1c.7967G>C (p.Cys2656Ser)
c.7964G>C (p.Cys2655Ser)
c.1419G>C
n.8050G>C
19g.38504260G>TCA405675645RYR1c.7967G>T (p.Cys2656Phe)
c.7964G>T (p.Cys2655Phe)
c.1419G>T
n.8050G>T
19g.38504260_38504261delinsGCCA2335055583RYR1c.7967_7968delinsGC (p.Cys2656=)
c.7964_7965delinsGC (p.Cys2655=)
c.1419_1420delinsGC
n.8050_8051delinsGC
19g.38504261C>ACA405675652RYR1c.7968C>A (p.Cys2656Ter)
c.7965C>A (p.Cys2655Ter)
c.1420C>A
n.8051C>A
19g.38504261C=CA2335055585RYR1c.7968C= (p.Cys2656=)
c.7965C= (p.Cys2655=)
c.1420C=
n.8051C=
19g.38504261C>GCA405675654RYR1c.7968C>G (p.Cys2656Trp)
c.7965C>G (p.Cys2655Trp)
c.1420C>G
n.8051C>G
 dbSNP gnomAD v2 gnomAD v4
19g.38504261C>TCA082999RYR1c.7968C>T (p.Cys2656=)
c.7965C>T (p.Cys2655=)
c.1420C>T
n.8051C>T
 gnomAD v4
19g.38504262delCA2335055584RYR1c.7969del (p.Leu2657TyrfsTer?)
c.7966del (p.Leu2656TyrfsTer?)
c.1421del
n.8052del
 dbSNP gnomAD v4
19g.38504261_38504263delinsCCTCA2335055586RYR1c.7968_7970delinsCCT (p.Cys2656=)
c.7965_7967delinsCCT (p.Cys2655=)
c.1420_1422delinsCCT
n.8051_8053delinsCCT
19g.38504262C>ACA405675655RYR1c.7969C>A (p.Leu2657Ile)
c.7966C>A (p.Leu2656Ile)
c.1421C>A
n.8052C>A
19g.38504262C=CA2335055587RYR1c.7969C= (p.Leu2657=)
c.7966C= (p.Leu2656=)
c.1421C=
n.8052C=
19g.38504262C>GCA405675656RYR1c.7969C>G (p.Leu2657Val)
c.7966C>G (p.Leu2656Val)
c.1421C>G
n.8052C>G
 dbSNP
19g.38504262C>TCA082953RYR1c.7969C>T (p.Leu2657=)
c.7966C>T (p.Leu2656=)
c.1421C>T
n.8052C>T
 ClinVar
19g.38504262_38504263delinsACA658799203RYR1c.7969_7970delinsA (p.Leu2657AsnfsTer?)
c.7966_7967delinsA (p.Leu2656AsnfsTer?)
c.1421_1422delinsA
n.8052_8053delinsA
 ClinVar dbSNP
19g.38504263delCA2695228667RYR1c.7970del (p.Leu2657HisfsTer?)
c.7967del (p.Leu2656HisfsTer?)
c.1422del
n.8053del
19g.38504263T>ACA405675657RYR1c.7970T>A (p.Leu2657Gln)
c.7967T>A (p.Leu2656Gln)
c.1422T>A
n.8053T>A
 dbSNP gnomAD v4
19g.38504263T>CCA405675658RYR1c.7970T>C (p.Leu2657Pro)
c.7967T>C (p.Leu2656Pro)
c.1422T>C
n.8053T>C
19g.38504263T>GCA405675661RYR1c.7970T>G (p.Leu2657Arg)
c.7967T>G (p.Leu2656Arg)
c.1422T>G
n.8053T>G
19g.38504263T=CA2335055588RYR1c.7970T= (p.Leu2657=)
c.7967T= (p.Leu2656=)
c.1422T=
n.8053T=
19g.38504264A=CA2335055589RYR1c.7971A= (p.Leu2657=)
c.7968A= (p.Leu2656=)
c.1423A=
n.8054A=
19g.38504264A>CCA071176RYR1c.7971A>C (p.Leu2657=)
c.7968A>C (p.Leu2656=)
c.1423A>C
n.8054A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38504264A>GCA507244173RYR1c.7971A>G (p.Leu2657=)
c.7968A>G (p.Leu2656=)
c.1423A>G
n.8054A>G
19g.38504264A>TCA507244174RYR1c.7971A>T (p.Leu2657=)
c.7968A>T (p.Leu2656=)
c.1423A>T
n.8054A>T
19g.38504265C>ACA405675667RYR1c.7972C>A (p.Pro2658Thr)
c.7969C>A (p.Pro2657Thr)
c.1424C>A
n.8055C>A
19g.38504265C>GCA405675670RYR1c.7972C>G (p.Pro2658Ala)
c.7969C>G (p.Pro2657Ala)
c.1424C>G
n.8055C>G
19g.38504265C>TCA405675674RYR1c.7972C>T (p.Pro2658Ser)
c.7969C>T (p.Pro2657Ser)
c.1424C>T
n.8055C>T
19g.38504266C>ACA405675676RYR1c.7973C>A (p.Pro2658His)
c.7970C>A (p.Pro2657His)
c.1425C>A
n.8056C>A
19g.38504266C=CA2335055590RYR1c.7973C= (p.Pro2658=)
c.7970C= (p.Pro2657=)
c.1425C=
n.8056C=
19g.38504266C>GCA405675678RYR1c.7973C>G (p.Pro2658Arg)
c.7970C>G (p.Pro2657Arg)
c.1425C>G
n.8056C>G
19g.38504266C>TCA405675680RYR1c.7973C>T (p.Pro2658Leu)
c.7970C>T (p.Pro2657Leu)
c.1425C>T
n.8056C>T
 dbSNP gnomAD v2 gnomAD v4
19g.38504267C>ACA507244177RYR1c.7974C>A (p.Pro2658=)
c.7971C>A (p.Pro2657=)
c.1426C>A
n.8057C>A
19g.38504267C>GCA507244178RYR1c.7974C>G (p.Pro2658=)
c.7971C>G (p.Pro2657=)
c.1426C>G
n.8057C>G
19g.38504267C>TCA507244179RYR1c.7974C>T (p.Pro2658=)
c.7971C>T (p.Pro2657=)
c.1426C>T
n.8057C>T
19g.38504268A>CCA405675688RYR1c.7975A>C (p.Thr2659Pro)
c.7972A>C (p.Thr2658Pro)
c.1427A>C
n.8058A>C
19g.38504268A>GCA405675684RYR1c.7975A>G (p.Thr2659Ala)
c.7972A>G (p.Thr2658Ala)
c.1427A>G
n.8058A>G
19g.38504268A>TCA405675686RYR1c.7975A>T (p.Thr2659Ser)
c.7972A>T (p.Thr2658Ser)
c.1427A>T
n.8058A>T
19g.38504269C>ACA405675692RYR1c.7976C>A (p.Thr2659Lys)
c.7973C>A (p.Thr2658Lys)
c.1428C>A
n.8059C>A
19g.38504269C=CA2335055591RYR1c.7976C= (p.Thr2659=)
c.7973C= (p.Thr2658=)
c.1428C=
n.8059C=
19g.38504269C>GCA405675702RYR1c.7976C>G (p.Thr2659Arg)
c.7973C>G (p.Thr2658Arg)
c.1428C>G
n.8059C>G
19g.38504269C>TCA071182RYR1c.7976C>T (p.Thr2659Met)
c.7973C>T (p.Thr2658Met)
c.1428C>T
n.8059C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38504270G>ACA024878RYR1c.7977G>A (p.Thr2659=)
c.7974G>A (p.Thr2658=)
c.1429G>A
n.8060G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38504270G>CCA507244186RYR1c.7977G>C (p.Thr2659=)
c.7974G>C (p.Thr2658=)
c.1429G>C
n.8060G>C
 gnomAD v4
19g.38504270G=CA2335055592RYR1c.7977G= (p.Thr2659=)
c.7974G= (p.Thr2658=)
c.1429G=
n.8060G=
19g.38504270G>TCA507244187RYR1c.7977G>T (p.Thr2659=)
c.7974G>T (p.Thr2658=)
c.1429G>T
n.8060G>T
19g.38504271G>ACA405675706RYR1c.7978G>A (p.Gly2660Ser)
c.7975G>A (p.Gly2659Ser)
c.1430G>A
n.8061G>A
19g.38504271G>CCA405675707RYR1c.7978G>C (p.Gly2660Arg)
c.7975G>C (p.Gly2659Arg)
c.1430G>C
n.8061G>C
19g.38504271G>TCA405675708RYR1c.7978G>T (p.Gly2660Cys)
c.7975G>T (p.Gly2659Cys)
c.1430G>T
n.8061G>T
19g.38504272G>ACA405675712RYR1c.7979G>A (p.Gly2660Asp)
c.7976G>A (p.Gly2659Asp)
c.1431G>A
n.8062G>A
19g.38504272G>CCA405675714RYR1c.7979G>C (p.Gly2660Ala)
c.7976G>C (p.Gly2659Ala)
c.1431G>C
n.8062G>C
19g.38504272G>TCA405675723RYR1c.7979G>T (p.Gly2660Val)
c.7976G>T (p.Gly2659Val)
c.1431G>T
n.8062G>T
19g.38504273C>ACA507244191RYR1c.7980C>A (p.Gly2660=)
c.7977C>A (p.Gly2659=)
c.1432C>A
n.8063C>A
 ClinVar gnomAD v4
19g.38504273C>GCA507244192RYR1c.7980C>G (p.Gly2660=)
c.7977C>G (p.Gly2659=)
c.1432C>G
n.8063C>G
19g.38504273C>TCA507244193RYR1c.7980C>T (p.Gly2660=)
c.7977C>T (p.Gly2659=)
c.1432C>T
n.8063C>T
19g.38504274T>ACA405675732RYR1c.7981T>A (p.Trp2661Arg)
c.7978T>A (p.Trp2660Arg)
c.1433T>A
n.8064T>A
19g.38504274T>CCA405675729RYR1c.7981T>C (p.Trp2661Arg)
c.7978T>C (p.Trp2660Arg)
c.1433T>C
n.8064T>C
19g.38504274T>GCA405675726RYR1c.7981T>G (p.Trp2661Gly)
c.7978T>G (p.Trp2660Gly)
c.1433T>G
n.8064T>G
19g.38504275G>ACA405675739RYR1c.7982G>A (p.Trp2661Ter)
c.7979G>A (p.Trp2660Ter)
c.1434G>A
n.8065G>A
19g.38504275G>CCA405675745RYR1c.7982G>C (p.Trp2661Ser)
c.7979G>C (p.Trp2660Ser)
c.1434G>C
n.8065G>C
19g.38504275G>TCA405675748RYR1c.7982G>T (p.Trp2661Leu)
c.7979G>T (p.Trp2660Leu)
c.1434G>T
n.8065G>T
19g.38504276G>ACA405675751RYR1c.7983G>A (p.Trp2661Ter)
c.7980G>A (p.Trp2660Ter)
c.1435G>A
n.8066G>A
 ClinVar
19g.38504276G>CCA405675752RYR1c.7983G>C (p.Trp2661Cys)
c.7980G>C (p.Trp2660Cys)
c.1435G>C
n.8066G>C
19g.38504276G>TCA405675753RYR1c.7983G>T (p.Trp2661Cys)
c.7980G>T (p.Trp2660Cys)
c.1435G>T
n.8066G>T
19g.38504277G>ACA405675754RYR1c.7984G>A (p.Ala2662Thr)
c.7981G>A (p.Ala2661Thr)
c.1436G>A
n.8067G>A
 gnomAD v4
19g.38504277G>CCA405675755RYR1c.7984G>C (p.Ala2662Pro)
c.7981G>C (p.Ala2661Pro)
c.1436G>C
n.8067G>C
19g.38504277G>TCA405675759RYR1c.7984G>T (p.Ala2662Ser)
c.7981G>T (p.Ala2661Ser)
c.1436G>T
n.8067G>T
 dbSNP
19g.38504278C>ACA405675760RYR1c.7985C>A (p.Ala2662Asp)
c.7982C>A (p.Ala2661Asp)
c.1437C>A
n.8068C>A
19g.38504278C>GCA405675761RYR1c.7985C>G (p.Ala2662Gly)
c.7982C>G (p.Ala2661Gly)
c.1437C>G
n.8068C>G
19g.38504278C>TCA405675762RYR1c.7985C>T (p.Ala2662Val)
c.7982C>T (p.Ala2661Val)
c.1437C>T
n.8068C>T
19g.38504279C>ACA507244207RYR1c.7986C>A (p.Ala2662=)
c.7983C>A (p.Ala2661=)
c.1438C>A
n.8069C>A
19g.38504279C>GCA507244208RYR1c.7986C>G (p.Ala2662=)
c.7983C>G (p.Ala2661=)
c.1438C>G
n.8069C>G
19g.38504279C>TCA507244209RYR1c.7986C>T (p.Ala2662=)
c.7983C>T (p.Ala2661=)
c.1438C>T
n.8069C>T
 gnomAD v4
19g.38504280A>CCA405675768RYR1c.7987A>C (p.Asn2663His)
c.7984A>C (p.Asn2662His)
c.1439A>C
n.8070A>C
19g.38504280A>GCA405675764RYR1c.7987A>G (p.Asn2663Asp)
c.7984A>G (p.Asn2662Asp)
c.1439A>G
n.8070A>G
19g.38504280A>TCA405675767RYR1c.7987A>T (p.Asn2663Tyr)
c.7984A>T (p.Asn2662Tyr)
c.1439A>T
n.8070A>T
19g.38504281A>CCA405675771RYR1c.7988A>C (p.Asn2663Thr)
c.7985A>C (p.Asn2662Thr)
c.1440A>C
n.8071A>C
19g.38504281A>GCA405675779RYR1c.7988A>G (p.Asn2663Ser)
c.7985A>G (p.Asn2662Ser)
c.1440A>G
n.8071A>G
19g.38504281A>TCA405675782RYR1c.7988A>T (p.Asn2663Ile)
c.7985A>T (p.Asn2662Ile)
c.1440A>T
n.8071A>T
19g.38504282C>ACA405675785RYR1c.7989C>A (p.Asn2663Lys)
c.7986C>A (p.Asn2662Lys)
c.1441C>A
n.8072C>A
19g.38504282C=CA2335055593RYR1c.7989C= (p.Asn2663=)
c.7986C= (p.Asn2662=)
c.1441C=
n.8072C=
19g.38504282C>GCA405675788RYR1c.7989C>G (p.Asn2663Lys)
c.7986C>G (p.Asn2662Lys)
c.1441C>G
n.8072C>G
19g.38504282C>TCA071195RYR1c.7989C>T (p.Asn2663=)
c.7986C>T (p.Asn2662=)
c.1441C>T
n.8072C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38504283T>ACA405675800RYR1c.7990T>A (p.Phe2664Ile)
c.7987T>A (p.Phe2663Ile)
c.1442T>A
n.8073T>A
19g.38504283T>CCA405675804RYR1c.7990T>C (p.Phe2664Leu)
c.7987T>C (p.Phe2663Leu)
c.1442T>C
n.8073T>C
19g.38504283T>GCA405675805RYR1c.7990T>G (p.Phe2664Val)
c.7987T>G (p.Phe2663Val)
c.1442T>G
n.8073T>G
19g.38504284T>ACA405675806RYR1c.7991T>A (p.Phe2664Tyr)
c.7988T>A (p.Phe2663Tyr)
c.1443T>A
n.8074T>A
19g.38504284T>CCA405675807RYR1c.7991T>C (p.Phe2664Ser)
c.7988T>C (p.Phe2663Ser)
c.1443T>C
n.8074T>C
19g.38504284T>GCA405675808RYR1c.7991T>G (p.Phe2664Cys)
c.7988T>G (p.Phe2663Cys)
c.1443T>G
n.8074T>G
19g.38504285C>ACA405675812RYR1c.7992C>A (p.Phe2664Leu)
c.7989C>A (p.Phe2663Leu)
c.1444C>A
n.8075C>A
19g.38504285C=CA2335055594RYR1c.7992C= (p.Phe2664=)
c.7989C= (p.Phe2663=)
c.1444C=
n.8075C=
19g.38504285C>GCA405675814RYR1c.7992C>G (p.Phe2664Leu)
c.7989C>G (p.Phe2663Leu)
c.1444C>G
n.8075C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38504285C>TCA071202RYR1c.7992C>T (p.Phe2664=)
c.7989C>T (p.Phe2663=)
c.1444C>T
n.8075C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38504286G>ACA405675823RYR1c.7993G>A (p.Gly2665Arg)
c.7990G>A (p.Gly2664Arg)
c.1445G>A
n.8076G>A
 dbSNP gnomAD v4
19g.38504286G>CCA308115885RYR1c.7993G>C (p.Gly2665Arg)
c.7990G>C (p.Gly2664Arg)
c.1445G>C
n.8076G>C
 dbSNP gnomAD v4
19g.38504286G=CA2335055595RYR1c.7993G= (p.Gly2665=)
c.7990G= (p.Gly2664=)
c.1445G=
n.8076G=
19g.38504286G>TCA405675819RYR1c.7993G>T (p.Gly2665Trp)
c.7990G>T (p.Gly2664Trp)
c.1445G>T
n.8076G>T
 gnomAD v4
19g.38504287G>ACA405675826RYR1c.7994G>A (p.Gly2665Glu)
c.7991G>A (p.Gly2664Glu)
c.1446G>A
n.8077G>A
 dbSNP
19g.38504287G>CCA405675830RYR1c.7994G>C (p.Gly2665Ala)
c.7991G>C (p.Gly2664Ala)
c.1446G>C
n.8077G>C
 dbSNP gnomAD v4
19g.38504287G=CA2335055596RYR1c.7994G= (p.Gly2665=)
c.7991G= (p.Gly2664=)
c.1446G=
n.8077G=
19g.38504287G>TCA405675831RYR1c.7994G>T (p.Gly2665Val)
c.7991G>T (p.Gly2664Val)
c.1446G>T
n.8077G>T
19g.38504288G>ACA507244226RYR1c.7995G>A (p.Gly2665=)
c.7992G>A (p.Gly2664=)
c.1447G>A
n.8078G>A
 dbSNP
19g.38504288G>CCA507244228RYR1c.7995G>C (p.Gly2665=)
c.7992G>C (p.Gly2664=)
c.1447G>C
n.8078G>C
 ClinVar dbSNP
19g.38504288G=CA2335055597RYR1c.7995G= (p.Gly2665=)
c.7992G= (p.Gly2664=)
c.1447G=
n.8078G=
19g.38504288G>TCA507244227RYR1c.7995G>T (p.Gly2665=)
c.7992G>T (p.Gly2664=)
c.1447G>T
n.8078G>T
19g.38504289G>ACA071203RYR1c.7996G>A (p.Val2666Ile)
c.7993G>A (p.Val2665Ile)
c.1448G>A
n.8079G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38504289G>CCA405675837RYR1c.7996G>C (p.Val2666Leu)
c.7993G>C (p.Val2665Leu)
c.1448G>C
n.8079G>C
19g.38504289G=CA2335055598RYR1c.7996G= (p.Val2666=)
c.7993G= (p.Val2665=)
c.1448G=
n.8079G=
19g.38504289G>TCA405675838RYR1c.7996G>T (p.Val2666Phe)
c.7993G>T (p.Val2665Phe)
c.1448G>T
n.8079G>T
 dbSNP gnomAD v4
19g.38504290T>ACA405675840RYR1c.7997T>A (p.Val2666Asp)
c.7994T>A (p.Val2665Asp)
c.1449T>A
n.8080T>A
19g.38504290T>CCA405675843RYR1c.7997T>C (p.Val2666Ala)
c.7994T>C (p.Val2665Ala)
c.1449T>C
n.8080T>C
19g.38504290T>GCA405675847RYR1c.7997T>G (p.Val2666Gly)
c.7994T>G (p.Val2665Gly)
c.1449T>G
n.8080T>G
19g.38504291C>ACA507244232RYR1c.7998C>A (p.Val2666=)
c.7995C>A (p.Val2665=)
c.1450C>A
n.8081C>A
19g.38504291C=CA2335055599RYR1c.7998C= (p.Val2666=)
c.7995C= (p.Val2665=)
c.1450C=
n.8081C=
19g.38504291C>GCA507244233RYR1c.7998C>G (p.Val2666=)
c.7995C>G (p.Val2665=)
c.1450C>G
n.8081C>G
19g.38504291C>TCA071209RYR1c.7998C>T (p.Val2666=)
c.7995C>T (p.Val2665=)
c.1450C>T
n.8081C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38504292A>CCA405675867RYR1c.7999A>C (p.Thr2667Pro)
c.7996A>C (p.Thr2666Pro)
c.1451A>C
n.8082A>C
19g.38504292A>GCA405675872RYR1c.7999A>G (p.Thr2667Ala)
c.7996A>G (p.Thr2666Ala)
c.1451A>G
n.8082A>G
19g.38504292A>TCA405675863RYR1c.7999A>T (p.Thr2667Ser)
c.7996A>T (p.Thr2666Ser)
c.1451A>T
n.8082A>T
19g.38504293C>ACA405675875RYR1c.8000C>A (p.Thr2667Asn)
c.7997C>A (p.Thr2666Asn)
c.1452C>A
n.8083C>A
19g.38504293C>GCA405675879RYR1c.8000C>G (p.Thr2667Ser)
c.7997C>G (p.Thr2666Ser)
c.1452C>G
n.8083C>G
19g.38504293C>TCA405675880RYR1c.8000C>T (p.Thr2667Ile)
c.7997C>T (p.Thr2666Ile)
c.1452C>T
n.8083C>T
19g.38504294C>ACA507244234RYR1c.8001C>A (p.Thr2667=)
c.7998C>A (p.Thr2666=)
c.1453C>A
n.8084C>A
19g.38504294C=CA2335055600RYR1c.8001C= (p.Thr2667=)
c.7998C= (p.Thr2666=)
c.1453C=
n.8084C=
19g.38504294C>GCA507244235RYR1c.8001C>G (p.Thr2667=)
c.7998C>G (p.Thr2666=)
c.1453C>G
n.8084C>G
19g.38504294C>TCA071238RYR1c.8001C>T (p.Thr2667=)
c.7998C>T (p.Thr2666=)
c.1453C>T
n.8084C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38504295T>ACA405675887RYR1c.8002T>A (p.Ser2668Thr)
c.7999T>A (p.Ser2667Thr)
c.1454T>A
n.8085T>A
19g.38504295T>CCA405675885RYR1c.8002T>C (p.Ser2668Pro)
c.7999T>C (p.Ser2667Pro)
c.1454T>C
n.8085T>C
19g.38504295T>GCA071245RYR1c.8002T>G (p.Ser2668Ala)
c.7999T>G (p.Ser2667Ala)
c.1454T>G
n.8085T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38504295T=CA2335055601RYR1c.8002T= (p.Ser2668=)
c.7999T= (p.Ser2667=)
c.1454T=
n.8085T=
19g.38504296C>ACA405675888RYR1c.8003C>A (p.Ser2668Ter)
c.8000C>A (p.Ser2667Ter)
c.1455C>A
n.8086C>A
19g.38504296C>GCA405675890RYR1c.8003C>G (p.Ser2668Ter)
c.8000C>G (p.Ser2667Ter)
c.1455C>G
n.8086C>G
19g.38504296C>TCA405675891RYR1c.8003C>T (p.Ser2668Leu)
c.8000C>T (p.Ser2667Leu)
c.1455C>T
n.8086C>T
19g.38504297A>CCA507244237RYR1c.8004A>C (p.Ser2668=)
c.8001A>C (p.Ser2667=)
c.1456A>C
n.8087A>C
19g.38504297A>GCA507244239RYR1c.8004A>G (p.Ser2668=)
c.8001A>G (p.Ser2667=)
c.1456A>G
n.8087A>G
19g.38504297A>TCA507244242RYR1c.8004A>T (p.Ser2668=)
c.8001A>T (p.Ser2667=)
c.1456A>T
n.8087A>T
19g.38504298G>ACA405675895RYR1c.8005G>A (p.Glu2669Lys)
c.8002G>A (p.Glu2668Lys)
c.1457G>A
n.8088G>A
 ClinVar dbSNP COSMIC
19g.38504298G>CCA405675898RYR1c.8005G>C (p.Glu2669Gln)
c.8002G>C (p.Glu2668Gln)
c.1457G>C
n.8088G>C
19g.38504298G>TCA405675899RYR1c.8005G>T (p.Glu2669Ter)
c.8002G>T (p.Glu2668Ter)
c.1457G>T
n.8088G>T
19g.38504299A>CCA405675902RYR1c.8006A>C (p.Glu2669Ala)
c.8003A>C (p.Glu2668Ala)
c.1458A>C
n.8089A>C
19g.38504299A>GCA405675901RYR1c.8006A>G (p.Glu2669Gly)
c.8003A>G (p.Glu2668Gly)
c.1458A>G
n.8089A>G
19g.38504299A>TCA405675900RYR1c.8006A>T (p.Glu2669Val)
c.8003A>T (p.Glu2668Val)
c.1458A>T
n.8089A>T
19g.38504300G>ACA507244244RYR1c.8007G>A (p.Glu2669=)
c.8004G>A (p.Glu2668=)
c.1459G>A
n.8090G>A
19g.38504300G>CCA405675903RYR1c.8007G>C (p.Glu2669Asp)
c.8004G>C (p.Glu2668Asp)
c.1459G>C
n.8090G>C
19g.38504300G>TCA405675906RYR1c.8007G>T (p.Glu2669Asp)
c.8004G>T (p.Glu2668Asp)
c.1459G>T
n.8090G>T
 gnomAD v4
19g.38504301G>ACA405675908RYR1c.8008G>A (p.Glu2670Lys)
c.8005G>A (p.Glu2669Lys)
c.1460G>A
n.8091G>A
 dbSNP
19g.38504301G>CCA405675911RYR1c.8008G>C (p.Glu2670Gln)
c.8005G>C (p.Glu2669Gln)
c.1460G>C
n.8091G>C
19g.38504301G=CA2335055602RYR1c.8008G= (p.Glu2670=)
c.8005G= (p.Glu2669=)
c.1460G=
n.8091G=
19g.38504301G>TCA405675918RYR1c.8008G>T (p.Glu2670Ter)
c.8005G>T (p.Glu2669Ter)
c.1460G>T
n.8091G>T
19g.38504302A>CCA405675922RYR1c.8009A>C (p.Glu2670Ala)
c.8006A>C (p.Glu2669Ala)
c.1461A>C
n.8092A>C
19g.38504302A>GCA405675924RYR1c.8009A>G (p.Glu2670Gly)
c.8006A>G (p.Glu2669Gly)
c.1461A>G
n.8092A>G
19g.38504302A>TCA405675927RYR1c.8009A>T (p.Glu2670Val)
c.8006A>T (p.Glu2669Val)
c.1461A>T
n.8092A>T
19g.38504303G>ACA507244250RYR1c.8010G>A (p.Glu2670=)
c.8007G>A (p.Glu2669=)
c.1462G>A
n.8093G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38504303G>CCA405675943RYR1c.8010G>C (p.Glu2670Asp)
c.8007G>C (p.Glu2669Asp)
c.1462G>C
n.8093G>C
19g.38504303G=CA2335055603RYR1c.8010G= (p.Glu2670=)
c.8007G= (p.Glu2669=)
c.1462G=
n.8093G=
19g.38504303G>TCA405675944RYR1c.8010G>T (p.Glu2670Asp)
c.8007G>T (p.Glu2669Asp)
c.1462G>T
n.8093G>T
19g.38504304G>ACA071266RYR1c.8011G>A (p.Glu2671Lys)
c.8008G>A (p.Glu2670Lys)
c.1463G>A
n.8094G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38504304G>CCA405675947RYR1c.8011G>C (p.Glu2671Gln)
c.8008G>C (p.Glu2670Gln)
c.1463G>C
n.8094G>C
19g.38504304G=CA2335055604RYR1c.8011G= (p.Glu2671=)
c.8008G= (p.Glu2670=)
c.1463G=
n.8094G=
19g.38504304G>TCA405675949RYR1c.8011G>T (p.Glu2671Ter)
c.8008G>T (p.Glu2670Ter)
c.1463G>T
n.8094G>T
19g.38504305A>CCA405675957RYR1c.8012A>C (p.Glu2671Ala)
c.8009A>C (p.Glu2670Ala)
c.1464A>C
n.8095A>C
19g.38504305A>GCA405675954RYR1c.8012A>G (p.Glu2671Gly)
c.8009A>G (p.Glu2670Gly)
c.1464A>G
n.8095A>G
19g.38504305A>TCA405675955RYR1c.8012A>T (p.Glu2671Val)
c.8009A>T (p.Glu2670Val)
c.1464A>T
n.8095A>T
19g.38504305_38504308dupCA2584901339RYR1c.8012_8015dup (p.His2673AlafsTer13)
c.8009_8012dup (p.His2672AlafsTer13)
c.1464_1467dup
n.8095_8098dup
 gnomAD v4
19g.38504306G>ACA507244253RYR1c.8013G>A (p.Glu2671=)
c.8010G>A (p.Glu2670=)
c.1465G>A
n.8096G>A
19g.38504306G>CCA405675963RYR1c.8013G>C (p.Glu2671Asp)
c.8010G>C (p.Glu2670Asp)
c.1465G>C
n.8096G>C
19g.38504306G>TCA405675965RYR1c.8013G>T (p.Glu2671Asp)
c.8010G>T (p.Glu2670Asp)
c.1465G>T
n.8096G>T
19g.38504307C>ACA405675966RYR1c.8014C>A (p.Leu2672Met)
c.8011C>A (p.Leu2671Met)
c.1466C>A
n.8097C>A
19g.38504307C>GCA405675969RYR1c.8014C>G (p.Leu2672Val)
c.8011C>G (p.Leu2671Val)
c.1466C>G
n.8097C>G
19g.38504307C>TCA507244255RYR1c.8014C>T (p.Leu2672=)
c.8011C>T (p.Leu2671=)
c.1466C>T
n.8097C>T
19g.38504308T>ACA405675970RYR1c.8015T>A (p.Leu2672Gln)
c.8012T>A (p.Leu2671Gln)
c.1467T>A
n.8098T>A
 dbSNP gnomAD v2
19g.38504308T>CCA405675971RYR1c.8015T>C (p.Leu2672Pro)
c.8012T>C (p.Leu2671Pro)
c.1467T>C
n.8098T>C
19g.38504308T>GCA405675972RYR1c.8015T>G (p.Leu2672Arg)
c.8012T>G (p.Leu2671Arg)
c.1467T>G
n.8098T>G
19g.38504308T=CA2335055605RYR1c.8015T= (p.Leu2672=)
c.8012T= (p.Leu2671=)
c.1467T=
n.8098T=
19g.38504309G>ACA507244257RYR1c.8016G>A (p.Leu2672=)
c.8013G>A (p.Leu2671=)
c.1468G>A
n.8099G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38504309G>CCA507244258RYR1c.8016G>C (p.Leu2672=)
c.8013G>C (p.Leu2671=)
c.1468G>C
n.8099G>C
 dbSNP gnomAD v2 gnomAD v4
19g.38504309G=CA2335055606RYR1c.8016G= (p.Leu2672=)
c.8013G= (p.Leu2671=)
c.1468G=
n.8099G=
19g.38504309G>TCA507244259RYR1c.8016G>T (p.Leu2672=)
c.8013G>T (p.Leu2671=)
c.1468G>T
n.8099G>T
 dbSNP gnomAD v2 gnomAD v4
19g.38504310C>ACA405675973RYR1c.8017C>A (p.His2673Asn)
c.8014C>A (p.His2672Asn)
c.1469C>A
n.8100C>A
19g.38504310C>GCA405675974RYR1c.8017C>G (p.His2673Asp)
c.8014C>G (p.His2672Asp)
c.1469C>G
n.8100C>G
19g.38504310C>TCA405675977RYR1c.8017C>T (p.His2673Tyr)
c.8014C>T (p.His2672Tyr)
c.1469C>T
n.8100C>T
19g.38504310_38504311delinsCACA2335055607RYR1c.8017_8018delinsCA (p.His2673=)
c.8014_8015delinsCA (p.His2672=)
c.1469_1470delinsCA
n.8100_8101delinsCA
19g.38504311delCA891863027RYR1c.8018del (p.His2673ProfsTer?)
c.8015del (p.His2672ProfsTer?)
c.1470del
n.8101del
 ClinVar dbSNP
19g.38504311A=CA2335055608RYR1c.8018A= (p.His2673=)
c.8015A= (p.His2672=)
c.1470A=
n.8101A=
19g.38504311A>CCA405675978RYR1c.8018A>C (p.His2673Pro)
c.8015A>C (p.His2672Pro)
c.1470A>C
n.8101A>C
19g.38504311A>GCA308115891RYR1c.8018A>G (p.His2673Arg)
c.8015A>G (p.His2672Arg)
c.1470A>G
n.8101A>G
 dbSNP
19g.38504311A>TCA405675982RYR1c.8018A>T (p.His2673Leu)
c.8015A>T (p.His2672Leu)
c.1470A>T
n.8101A>T
19g.38504312C>ACA405675984RYR1c.8019C>A (p.His2673Gln)
c.8016C>A (p.His2672Gln)
c.1471C>A
n.8102C>A
19g.38504312C>GCA405675986RYR1c.8019C>G (p.His2673Gln)
c.8016C>G (p.His2672Gln)
c.1471C>G
n.8102C>G
19g.38504312C>TCA507244261RYR1c.8019C>T (p.His2673=)
c.8016C>T (p.His2672=)
c.1471C>T
n.8102C>T
19g.38504313C>ACA405675991RYR1c.8020C>A (p.Leu2674Ile)
c.8017C>A (p.Leu2673Ile)
c.1472C>A
n.8103C>A
19g.38504313C>GCA405675995RYR1c.8020C>G (p.Leu2674Val)
c.8017C>G (p.Leu2673Val)
c.1472C>G
n.8103C>G
19g.38504313C>TCA405675992RYR1c.8020C>T (p.Leu2674Phe)
c.8017C>T (p.Leu2673Phe)
c.1472C>T
n.8103C>T
19g.38504314T>ACA405675998RYR1c.8021T>A (p.Leu2674His)
c.8018T>A (p.Leu2673His)
c.1473T>A
n.8104T>A
19g.38504314T>CCA405676003RYR1c.8021T>C (p.Leu2674Pro)
c.8018T>C (p.Leu2673Pro)
c.1473T>C
n.8104T>C
19g.38504314T>GCA405676000RYR1c.8021T>G (p.Leu2674Arg)
c.8018T>G (p.Leu2673Arg)
c.1473T>G
n.8104T>G
19g.38504315C>ACA507244262RYR1c.8022C>A (p.Leu2674=)
c.8019C>A (p.Leu2673=)
c.1474C>A
n.8105C>A
19g.38504315C=CA2335055609RYR1c.8022C= (p.Leu2674=)
c.8019C= (p.Leu2673=)
c.1474C=
n.8105C=
19g.38504315C>GCA507244263RYR1c.8022C>G (p.Leu2674=)
c.8019C>G (p.Leu2673=)
c.1474C>G
n.8105C>G
19g.38504315C>TCA507244264RYR1c.8022C>T (p.Leu2674=)
c.8019C>T (p.Leu2673=)
c.1474C>T
n.8105C>T
 dbSNP
19g.38504318_38504319delCA2814347473RYR1c.8025_8026del (p.Arg2676GlufsTer8)
c.8022_8023del (p.Arg2675GlufsTer8)
c.1477_1478del
n.8108_8109del
19g.38504316A>CCA405676004RYR1c.8023A>C (p.Thr2675Pro)
c.8020A>C (p.Thr2674Pro)
c.1475A>C
n.8106A>C
19g.38504316A>GCA405676012RYR1c.8023A>G (p.Thr2675Ala)
c.8020A>G (p.Thr2674Ala)
c.1475A>G
n.8106A>G
19g.38504316A>TCA405676007RYR1c.8023A>T (p.Thr2675Ser)
c.8020A>T (p.Thr2674Ser)
c.1475A>T
n.8106A>T
19g.38504317C>ACA405676016RYR1c.8024C>A (p.Thr2675Lys)
c.8021C>A (p.Thr2674Lys)
c.1476C>A
n.8107C>A
 ClinVar dbSNP
19g.38504317C=CA2335055610RYR1c.8024C= (p.Thr2675=)
c.8021C= (p.Thr2674=)
c.1476C=
n.8107C=
19g.38504317C>GCA405676019RYR1c.8024C>G (p.Thr2675Arg)
c.8021C>G (p.Thr2674Arg)
c.1476C>G
n.8107C>G
19g.38504317C>TCA405676020RYR1c.8024C>T (p.Thr2675Ile)
c.8021C>T (p.Thr2674Ile)
c.1476C>T
n.8107C>T
19g.38504318A>CCA507244265RYR1c.8025A>C (p.Thr2675=)
c.8022A>C (p.Thr2674=)
c.1477A>C
n.8108A>C
19g.38504318A>GCA507244266RYR1c.8025A>G (p.Thr2675=)
c.8022A>G (p.Thr2674=)
c.1477A>G
n.8108A>G
19g.38504318A>TCA507244267RYR1c.8025A>T (p.Thr2675=)
c.8022A>T (p.Thr2674=)
c.1477A>T
n.8108A>T
19g.38504319C>ACA507244268RYR1c.8026C>A (p.Arg2676=)
c.8023C>A (p.Arg2675=)
c.1478C>A
n.8109C>A
 gnomAD v4
19g.38504319C=CA2335055611RYR1c.8026C= (p.Arg2676=)
c.8023C= (p.Arg2675=)
c.1478C=
n.8109C=
19g.38504319C>GCA405676023RYR1c.8026C>G (p.Arg2676Gly)
c.8023C>G (p.Arg2675Gly)
c.1478C>G
n.8109C>G
 dbSNP gnomAD v3 gnomAD v4
19g.38504319C>TCA024883RYR1c.8026C>T (p.Arg2676Trp)
c.8023C>T (p.Arg2675Trp)
c.1478C>T
n.8109C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.[38504319C>T;38505358C>G]CA185857RYR1c.[8026C>T;8360C>G] (p.[Arg2676Trp;Thr2787Ser])
c.[8023C>T;8357C>G] (p.[Arg2675Trp;Thr2786Ser])
c.[1478C>T;1812C>G]
n.[8109C>T;8443C>G]
 ClinVar
19g.38504320G>ACA071308RYR1c.8027G>A (p.Arg2676Gln)
c.8024G>A (p.Arg2675Gln)
c.1479G>A
n.8110G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.38504320G>CCA405676027RYR1c.8027G>C (p.Arg2676Pro)
c.8024G>C (p.Arg2675Pro)
c.1479G>C
n.8110G>C
19g.38504320G=CA2335055612RYR1c.8027G= (p.Arg2676=)
c.8024G= (p.Arg2675=)
c.1479G=
n.8110G=
19g.38504320G>TCA405676028RYR1c.8027G>T (p.Arg2676Leu)
c.8024G>T (p.Arg2675Leu)
c.1479G>T
n.8110G>T
19g.38504321G>ACA507244269RYR1c.8028G>A (p.Arg2676=)
c.8025G>A (p.Arg2675=)
c.1480G>A
n.8111G>A
19g.38504321G>CCA507244270RYR1c.8028G>C (p.Arg2676=)
c.8025G>C (p.Arg2675=)
c.1480G>C
n.8111G>C
19g.38504321G>TCA507244271RYR1c.8028G>T (p.Arg2676=)
c.8025G>T (p.Arg2675=)
c.1480G>T
n.8111G>T
19g.38504322A>CCA405676031RYR1c.8029A>C (p.Lys2677Gln)
c.8026A>C (p.Lys2676Gln)
c.1481A>C
n.8112A>C
19g.38504322A>GCA405676032RYR1c.8029A>G (p.Lys2677Glu)
c.8026A>G (p.Lys2676Glu)
c.1481A>G
n.8112A>G
19g.38504322A>TCA405676035RYR1c.8029A>T (p.Lys2677Ter)
c.8026A>T (p.Lys2676Ter)
c.1481A>T
n.8112A>T
19g.38504323A>CCA405676036RYR1c.8030A>C (p.Lys2677Thr)
c.8027A>C (p.Lys2676Thr)
c.1482A>C
n.8113A>C
 ClinVar
19g.38504323A>GCA405676039RYR1c.8030A>G (p.Lys2677Arg)
c.8027A>G (p.Lys2676Arg)
c.1482A>G
n.8113A>G
19g.38504323A>TCA405676038RYR1c.8030A>T (p.Lys2677Ile)
c.8027A>T (p.Lys2676Ile)
c.1482A>T
n.8113A>T
19g.38504324A=CA2335055613RYR1c.8031A= (p.Lys2677=)
c.8028A= (p.Lys2676=)
c.1483A=
n.8114A=
19g.38504324A>CCA405676041RYR1c.8031A>C (p.Lys2677Asn)
c.8028A>C (p.Lys2676Asn)
c.1483A>C
n.8114A>C
19g.38504324A>GCA071315RYR1c.8031A>G (p.Lys2677=)
c.8028A>G (p.Lys2676=)
c.1483A>G
n.8114A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38504324A>TCA071322RYR1c.8031A>T (p.Lys2677Asn)
c.8028A>T (p.Lys2676Asn)
c.1483A>T
n.8114A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38504325C>ACA405676045RYR1c.8032C>A (p.Leu2678Ile)
c.8029C>A (p.Leu2677Ile)
c.1484C>A
n.8115C>A
19g.38504325C>GCA405676048RYR1c.8032C>G (p.Leu2678Val)
c.8029C>G (p.Leu2677Val)
c.1484C>G
n.8115C>G
19g.38504325C>TCA405676051RYR1c.8032C>T (p.Leu2678Phe)
c.8029C>T (p.Leu2677Phe)
c.1484C>T
n.8115C>T
 gnomAD v4
19g.38504326T>ACA405676052RYR1c.8033T>A (p.Leu2678His)
c.8030T>A (p.Leu2677His)
c.1485T>A
n.8116T>A
 dbSNP gnomAD v4
19g.38504326T>CCA405676055RYR1c.8033T>C (p.Leu2678Pro)
c.8030T>C (p.Leu2677Pro)
c.1485T>C
n.8116T>C
19g.38504326T>GCA405676057RYR1c.8033T>G (p.Leu2678Arg)
c.8030T>G (p.Leu2677Arg)
c.1485T>G
n.8116T>G
19g.38504326T=CA2335055614RYR1c.8033T= (p.Leu2678=)
c.8030T= (p.Leu2677=)
c.1485T=
n.8116T=
19g.38504327C>ACA507244272RYR1c.8034C>A (p.Leu2678=)
c.8031C>A (p.Leu2677=)
c.1486C>A
n.8117C>A
 dbSNP gnomAD v2 gnomAD v4
19g.38504327C=CA2335055615RYR1c.8034C= (p.Leu2678=)
c.8031C= (p.Leu2677=)
c.1486C=
n.8117C=
19g.38504327C>GCA507244273RYR1c.8034C>G (p.Leu2678=)
c.8031C>G (p.Leu2677=)
c.1486C>G
n.8117C>G
19g.38504327C>TCA507244274RYR1c.8034C>T (p.Leu2678=)
c.8031C>T (p.Leu2677=)
c.1486C>T
n.8117C>T
19g.38504328T>ACA071329RYR1c.8035T>A (p.Phe2679Ile)
c.8032T>A (p.Phe2678Ile)
c.1487T>A
n.8118T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38504328T>CCA405676061RYR1c.8035T>C (p.Phe2679Leu)
c.8032T>C (p.Phe2678Leu)
c.1487T>C
n.8118T>C
19g.38504328T>GCA405676058RYR1c.8035T>G (p.Phe2679Val)
c.8032T>G (p.Phe2678Val)
c.1487T>G
n.8118T>G
19g.38504328T=CA2335055616RYR1c.8035T= (p.Phe2679=)
c.8032T= (p.Phe2678=)
c.1487T=
n.8118T=
19g.38504329T>ACA405676064RYR1c.8036T>A (p.Phe2679Tyr)
c.8033T>A (p.Phe2678Tyr)
c.1488T>A
n.8119T>A
 dbSNP
19g.38504329T>CCA405676066RYR1c.8036T>C (p.Phe2679Ser)
c.8033T>C (p.Phe2678Ser)
c.1488T>C
n.8119T>C
19g.38504329T>GCA405676068RYR1c.8036T>G (p.Phe2679Cys)
c.8033T>G (p.Phe2678Cys)
c.1488T>G
n.8119T>G
19g.38504329T=CA2335055617RYR1c.8036T= (p.Phe2679=)
c.8033T= (p.Phe2678=)
c.1488T=
n.8119T=

Number of alleles fetched