Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38502488_38502544delinsTCCTCACCCTGCGCCCTAGGCCACTTTCAGCACCACCGAGATGGCGCTGGCGCTGAACA2335054339RYR1c.7615-19_7652delinsTCCTCACCCTGCGCCCTAGGCCACTTTCAGCACCACCGAGATGGCGCTGGCGCTGAA
c.7612-19_7649delinsTCCTCACCCTGCGCCCTAGGCCACTTTCAGCACCACCGAGATGGCGCTGGCGCTGAA
c.1067-19_1104delinsTCCTCACCCTGCGCCCTAGGCCACTTTCAGCACCACCGAGATGGCGCTGGCGCTGAA
n.7698-19_7735delinsTCCTCACCCTGCGCCCTAGGCCACTTTCAGCACCACCGAGATGGCGCTGGCGCTGAA
19g.38502491_38502546delCA633066602RYR1c.7615-16_7654del
c.7612-16_7651del
c.1067-16_1106del
n.7698-16_7737del
 dbSNP gnomAD v2 gnomAD v4
19g.38502500_38502509delCA995716973RYR1c.7615-7_7617del
c.7612-7_7614del
c.1067-7_1069del
n.7698-7_7700del
 gnomAD v3 gnomAD v4
19g.38502500G>ACA069869RYR1c.7615-7G>A (n.7615-7G>A)
c.7612-7G>A (n.7612-7G>A)
c.1067-7G>A
n.7698-7G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502500G=CA2335054353RYR1c.7615-7G= (n.7615-7G=)
c.7612-7G= (n.7612-7G=)
c.1067-7G=
n.7698-7G=
19g.38502500G>TCA633066606RYR1c.7615-7G>T (n.7615-7G>T)
c.7612-7G>T (n.7612-7G>T)
c.1067-7G>T
n.7698-7G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502501C>ACA633066607RYR1c.7615-6C>A (n.7615-6C>A)
c.7612-6C>A (n.7612-6C>A)
c.1067-6C>A
n.7698-6C>A
 dbSNP gnomAD v2 gnomAD v4
19g.38502501C=CA2335054354RYR1c.7615-6C= (n.7615-6C=)
c.7612-6C= (n.7612-6C=)
c.1067-6C=
n.7698-6C=
19g.38502501C>TCA069867RYR1c.7615-6C>T (n.7615-6C>T)
c.7612-6C>T (n.7612-6C>T)
c.1067-6C>T
n.7698-6C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502501_38502503delCA995716999RYR1c.7615-6_7615-4del (n.7615-6_7615-4del)
c.7612-6_7612-4del (n.7612-6_7612-4del)
c.1067-6_1067-4del
n.7698-6_7698-4del
 gnomAD v3 gnomAD v4
19g.38502501_38502511delCA995717005RYR1c.7615-6_7619del
c.7612-6_7616del
c.1067-6_1071del
n.7698-6_7702del
 gnomAD v3 gnomAD v4
19g.38502502C=CA2335054355RYR1c.7615-5C= (n.7615-5C=)
c.7612-5C= (n.7612-5C=)
c.1067-5C=
n.7698-5C=
19g.38502502C>TCA024836RYR1c.7615-5C>T (n.7615-5C>T)
c.7612-5C>T (n.7612-5C>T)
c.1067-5C>T
n.7698-5C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502503C=CA2335054356RYR1c.7615-4C= (n.7615-4C=)
c.7612-4C= (n.7612-4C=)
c.1067-4C=
n.7698-4C=
19g.38502503C>GCA2518666717RYR1c.7615-4C>G (n.7615-4C>G)
c.7612-4C>G (n.7612-4C>G)
c.1067-4C>G
n.7698-4C>G
 ClinVar gnomAD v4
19g.38502503C>TCA069860RYR1c.7615-4C>T (n.7615-4C>T)
c.7612-4C>T (n.7612-4C>T)
c.1067-4C>T
n.7698-4C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502504T>ACA2695228668RYR1c.7615-3T>A (n.7615-3T>A)
c.7612-3T>A (n.7612-3T>A)
c.1067-3T>A
n.7698-3T>A
19g.38502504T>CCA995717013RYR1c.7615-3T>C (n.7615-3T>C)
c.7612-3T>C (n.7612-3T>C)
c.1067-3T>C
n.7698-3T>C
 dbSNP gnomAD v3 gnomAD v4
19g.38502504T>GCA2739276779RYR1c.7615-3T>G (n.7615-3T>G)
c.7612-3T>G (n.7612-3T>G)
c.1067-3T>G
n.7698-3T>G
 ClinVar
19g.38502504T=CA2335054357RYR1c.7615-3T= (n.7615-3T=)
c.7612-3T= (n.7612-3T=)
c.1067-3T=
n.7698-3T=
19g.38502504_38502505insTTTTTACA995717015RYR1c.7615-3_7615-2insTTTTTA (n.7615-3_7615-2insTTTTTA)
c.7612-3_7612-2insTTTTTA (n.7612-3_7612-2insTTTTTA)
c.1067-3_1067-2insTTTTTA
n.7698-3_7698-2insTTTTTA
 gnomAD v3 gnomAD v4
19g.38502505A>CCA405671263RYR1c.7615-2A>C (n.7615-2A>C)
c.7612-2A>C (n.7612-2A>C)
c.1067-2A>C
n.7698-2A>C
19g.38502505A>GCA405671272RYR1c.7615-2A>G (n.7615-2A>G)
c.7612-2A>G (n.7612-2A>G)
c.1067-2A>G
n.7698-2A>G
 gnomAD v4
19g.38502505A>TCA405671266RYR1c.7615-2A>T (n.7615-2A>T)
c.7612-2A>T (n.7612-2A>T)
c.1067-2A>T
n.7698-2A>T
19g.38502506G>ACA405671275RYR1c.7615-1G>A (n.7615-1G>A)
c.7612-1G>A (n.7612-1G>A)
c.1067-1G>A
n.7698-1G>A
 dbSNP gnomAD v2
19g.38502506G>CCA405671277RYR1c.7615-1G>C (n.7615-1G>C)
c.7612-1G>C (n.7612-1G>C)
c.1067-1G>C
n.7698-1G>C
 gnomAD v4
19g.38502506G=CA2335054358RYR1c.7615-1G= (n.7615-1G=)
c.7612-1G= (n.7612-1G=)
c.1067-1G=
n.7698-1G=
19g.38502506G>TCA405671278RYR1c.7615-1G>T (n.7615-1G>T)
c.7612-1G>T (n.7612-1G>T)
c.1067-1G>T
n.7698-1G>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38502507G>ACA405671281RYR1c.7615G>A (p.Ala2539Thr)
c.7612G>A (p.Ala2538Thr)
c.1067G>A
n.7698G>A
 dbSNP gnomAD v4
19g.38502507G>CCA405671284RYR1c.7615G>C (p.Ala2539Pro)
c.7612G>C (p.Ala2538Pro)
c.1067G>C
n.7698G>C
19g.38502507G=CA2335054359RYR1c.7615G= (p.Ala2539=)
c.7612G= (p.Ala2538=)
c.1067G=
n.7698G=
19g.38502507G>TCA405671289RYR1c.7615G>T (p.Ala2539Ser)
c.7612G>T (p.Ala2538Ser)
c.1067G>T
n.7698G>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502508C>ACA405671291RYR1c.7616C>A (p.Ala2539Asp)
c.7613C>A (p.Ala2538Asp)
c.1068C>A
n.7699C>A
 gnomAD v4
19g.38502508C=CA2335054360RYR1c.7616C= (p.Ala2539=)
c.7613C= (p.Ala2538=)
c.1068C=
n.7699C=
19g.38502508C>GCA405671294RYR1c.7616C>G (p.Ala2539Gly)
c.7613C>G (p.Ala2538Gly)
c.1068C>G
n.7699C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502508C>TCA069875RYR1c.7616C>T (p.Ala2539Val)
c.7613C>T (p.Ala2538Val)
c.1068C>T
n.7699C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502508_38502509delCA995717029RYR1c.7616_7617del (p.Ala2539AspfsTer?)
c.7613_7614del (p.Ala2538AspfsTer?)
c.1068_1069del
n.7699_7700del
 gnomAD v3 gnomAD v4
19g.38502509C>ACA507243683RYR1c.7617C>A (p.Ala2539=)
c.7614C>A (p.Ala2538=)
c.1069C>A
n.7700C>A
 gnomAD v4
19g.38502509C=CA2335054361RYR1c.7617C= (p.Ala2539=)
c.7614C= (p.Ala2538=)
c.1069C=
n.7700C=
19g.38502509C>GCA507243684RYR1c.7617C>G (p.Ala2539=)
c.7614C>G (p.Ala2538=)
c.1069C>G
n.7700C>G
19g.38502509C>TCA069878RYR1c.7617C>T (p.Ala2539=)
c.7614C>T (p.Ala2538=)
c.1069C>T
n.7700C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502510A=CA2335054362RYR1c.7618A= (p.Thr2540=)
c.7615A= (p.Thr2539=)
c.1070A=
n.7701A=
19g.38502510A>CCA405671302RYR1c.7618A>C (p.Thr2540Pro)
c.7615A>C (p.Thr2539Pro)
c.1070A>C
n.7701A>C
 dbSNP gnomAD v3 gnomAD v4
19g.38502510A>GCA405671305RYR1c.7618A>G (p.Thr2540Ala)
c.7615A>G (p.Thr2539Ala)
c.1070A>G
n.7701A>G
19g.38502510A>TCA405671299RYR1c.7618A>T (p.Thr2540Ser)
c.7615A>T (p.Thr2539Ser)
c.1070A>T
n.7701A>T
19g.38502511C>ACA405671311RYR1c.7619C>A (p.Thr2540Asn)
c.7616C>A (p.Thr2539Asn)
c.1071C>A
n.7702C>A
19g.38502511C=CA2335054363RYR1c.7619C= (p.Thr2540=)
c.7616C= (p.Thr2539=)
c.1071C=
n.7702C=
19g.38502511C>GCA405671313RYR1c.7619C>G (p.Thr2540Ser)
c.7616C>G (p.Thr2539Ser)
c.1071C>G
n.7702C>G
19g.38502511C>TCA082512RYR1c.7619C>T (p.Thr2540Ile)
c.7616C>T (p.Thr2539Ile)
c.1071C>T
n.7702C>T
 dbSNP gnomAD v3 gnomAD v4
19g.38502511_38502512delCA995717041RYR1c.7619_7620del (p.Thr2540IlefsTer?)
c.7616_7617del (p.Thr2539IlefsTer?)
c.1071_1072del
n.7702_7703del
 gnomAD v3 gnomAD v4
19g.38502512T>ACA507243691RYR1c.7620T>A (p.Thr2540=)
c.7617T>A (p.Thr2539=)
c.1072T>A
n.7703T>A
19g.38502512T>CCA507243692RYR1c.7620T>C (p.Thr2540=)
c.7617T>C (p.Thr2539=)
c.1072T>C
n.7703T>C
19g.38502512T>GCA507243693RYR1c.7620T>G (p.Thr2540=)
c.7617T>G (p.Thr2539=)
c.1072T>G
n.7703T>G
19g.38502514delCA2584900594RYR1c.7622del (p.Phe2541SerfsTer10)
c.7619del (p.Phe2540SerfsTer10)
c.1074del
n.7705del
 gnomAD v4
19g.38502513T>ACA405671316RYR1c.7621T>A (p.Phe2541Ile)
c.7618T>A (p.Phe2540Ile)
c.1073T>A
n.7704T>A
19g.38502513T>CCA405671317RYR1c.7621T>C (p.Phe2541Leu)
c.7618T>C (p.Phe2540Leu)
c.1073T>C
n.7704T>C
19g.38502513T>GCA405671318RYR1c.7621T>G (p.Phe2541Val)
c.7618T>G (p.Phe2540Val)
c.1073T>G
n.7704T>G
19g.38502514T>ACA405671321RYR1c.7622T>A (p.Phe2541Tyr)
c.7619T>A (p.Phe2540Tyr)
c.1074T>A
n.7705T>A
19g.38502514T>CCA405671319RYR1c.7622T>C (p.Phe2541Ser)
c.7619T>C (p.Phe2540Ser)
c.1074T>C
n.7705T>C
19g.38502514T>GCA405671320RYR1c.7622T>G (p.Phe2541Cys)
c.7619T>G (p.Phe2540Cys)
c.1074T>G
n.7705T>G
 gnomAD v4
19g.38502514T=CA2335054364RYR1c.7622T= (p.Phe2541=)
c.7619T= (p.Phe2540=)
c.1074T=
n.7705T=
19g.38502514_38502515insTTTAATGATACGTCA2528226534RYR1c.7622_7623insTTTAATGATACGT (p.Ser2542LeufsTer?)
c.7619_7620insTTTAATGATACGT (p.Ser2541LeufsTer?)
c.1074_1075insTTTAATGATACGT
n.7705_7706insTTTAATGATACGT
19g.38502514_38502515insTTTAATGATACA633066608RYR1c.7622_7623insTTTAATGATA (p.Ser2542LeufsTer?)
c.7619_7620insTTTAATGATA (p.Ser2541LeufsTer?)
c.1074_1075insTTTAATGATA
n.7705_7706insTTTAATGATA
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502514_38502515insTTTAATGCTACA995717051RYR1c.7622_7623insTTTAATGCTA (p.Ser2542LeufsTer?)
c.7619_7620insTTTAATGCTA (p.Ser2541LeufsTer?)
c.1074_1075insTTTAATGCTA
n.7705_7706insTTTAATGCTA
 gnomAD v3 gnomAD v4
19g.38502514_38502515insTTTACTGATACA995717054RYR1c.7622_7623insTTTACTGATA (p.Ser2542LeufsTer?)
c.7619_7620insTTTACTGATA (p.Ser2541LeufsTer?)
c.1074_1075insTTTACTGATA
n.7705_7706insTTTACTGATA
 gnomAD v3 gnomAD v4
19g.38502514_38502515insTTTGATGATACA995717055RYR1c.7622_7623insTTTGATGATA (p.Ser2542LeufsTer?)
c.7619_7620insTTTGATGATA (p.Ser2541LeufsTer?)
c.1074_1075insTTTGATGATA
n.7705_7706insTTTGATGATA
 gnomAD v3 gnomAD v4
19g.38502515C>ACA405671322RYR1c.7623C>A (p.Phe2541Leu)
c.7620C>A (p.Phe2540Leu)
c.1075C>A
n.7706C>A
19g.38502515C>GCA405671323RYR1c.7623C>G (p.Phe2541Leu)
c.7620C>G (p.Phe2540Leu)
c.1075C>G
n.7706C>G
 gnomAD v4
19g.38502515C>TCA507243695RYR1c.7623C>T (p.Phe2541=)
c.7620C>T (p.Phe2540=)
c.1075C>T
n.7706C>T
 ClinVar
19g.38502516delCA2565678219RYR1c.7624del (p.Ser2542AlafsTer9)
c.7621del (p.Ser2541AlafsTer9)
c.1076del
n.7707del
19g.38502516A=CA2335054365RYR1c.7624A= (p.Ser2542=)
c.7621A= (p.Ser2541=)
c.1076A=
n.7707A=
19g.38502516A>CCA405671324RYR1c.7624A>C (p.Ser2542Arg)
c.7621A>C (p.Ser2541Arg)
c.1076A>C
n.7707A>C
19g.38502516A>GCA405671325RYR1c.7624A>G (p.Ser2542Gly)
c.7621A>G (p.Ser2541Gly)
c.1076A>G
n.7707A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38502516A>TCA405671326RYR1c.7624A>T (p.Ser2542Cys)
c.7621A>T (p.Ser2541Cys)
c.1076A>T
n.7707A>T
19g.38502517G>ACA405671327RYR1c.7625G>A (p.Ser2542Asn)
c.7622G>A (p.Ser2541Asn)
c.1077G>A
n.7708G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502517G>CCA405671329RYR1c.7625G>C (p.Ser2542Thr)
c.7622G>C (p.Ser2541Thr)
c.1077G>C
n.7708G>C
 dbSNP gnomAD v2 gnomAD v4
19g.38502517G=CA2335054366RYR1c.7625G= (p.Ser2542=)
c.7622G= (p.Ser2541=)
c.1077G=
n.7708G=
19g.38502517G>TCA405671328RYR1c.7625G>T (p.Ser2542Ile)
c.7622G>T (p.Ser2541Ile)
c.1077G>T
n.7708G>T
 gnomAD v4
19g.38502518delCA2503579571RYR1c.7626del (p.Ser2542ArgfsTer9)
c.7623del (p.Ser2541ArgfsTer9)
c.1078del
n.7709del
19g.38502518C>ACA405671330RYR1c.7626C>A (p.Ser2542Arg)
c.7623C>A (p.Ser2541Arg)
c.1078C>A
n.7709C>A
19g.38502518C=CA2335054367RYR1c.7626C= (p.Ser2542=)
c.7623C= (p.Ser2541=)
c.1078C=
n.7709C=
19g.38502518C>GCA405671332RYR1c.7626C>G (p.Ser2542Arg)
c.7623C>G (p.Ser2541Arg)
c.1078C>G
n.7709C>G
 dbSNP
19g.38502518C>TCA069880RYR1c.7626C>T (p.Ser2542=)
c.7623C>T (p.Ser2541=)
c.1078C>T
n.7709C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502518_38502519insGCA633066609RYR1c.7626_7627insG (p.Thr2543AspfsTer?)
c.7623_7624insG (p.Thr2542AspfsTer?)
c.1078_1079insG
n.7709_7710insG
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502519A>CCA405671335RYR1c.7627A>C (p.Thr2543Pro)
c.7624A>C (p.Thr2542Pro)
c.1079A>C
n.7710A>C
19g.38502519A>GCA405671338RYR1c.7627A>G (p.Thr2543Ala)
c.7624A>G (p.Thr2542Ala)
c.1079A>G
n.7710A>G
19g.38502519A>TCA405671344RYR1c.7627A>T (p.Thr2543Ser)
c.7624A>T (p.Thr2542Ser)
c.1079A>T
n.7710A>T
19g.38502520C>ACA405671356RYR1c.7628C>A (p.Thr2543Asn)
c.7625C>A (p.Thr2542Asn)
c.1080C>A
n.7711C>A
 gnomAD v4
19g.38502520C=CA2335054368RYR1c.7628C= (p.Thr2543=)
c.7625C= (p.Thr2542=)
c.1080C=
n.7711C=
19g.38502520C>GCA405671360RYR1c.7628C>G (p.Thr2543Ser)
c.7625C>G (p.Thr2542Ser)
c.1080C>G
n.7711C>G
19g.38502520C>TCA405671362RYR1c.7628C>T (p.Thr2543Ile)
c.7625C>T (p.Thr2542Ile)
c.1080C>T
n.7711C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502521C>ACA507243697RYR1c.7629C>A (p.Thr2543=)
c.7626C>A (p.Thr2542=)
c.1081C>A
n.7712C>A
 gnomAD v4
19g.38502521C>GCA507243698RYR1c.7629C>G (p.Thr2543=)
c.7626C>G (p.Thr2542=)
c.1081C>G
n.7712C>G
19g.38502521C>TCA082514RYR1c.7629C>T (p.Thr2543=)
c.7626C>T (p.Thr2542=)
c.1081C>T
n.7712C>T
19g.38502522A=CA2335054369RYR1c.7630A= (p.Thr2544=)
c.7627A= (p.Thr2543=)
c.1082A=
n.7713A=
19g.38502522A>CCA405671372RYR1c.7630A>C (p.Thr2544Pro)
c.7627A>C (p.Thr2543Pro)
c.1082A>C
n.7713A>C
19g.38502522A>GCA069884RYR1c.7630A>G (p.Thr2544Ala)
c.7627A>G (p.Thr2543Ala)
c.1082A>G
n.7713A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502522A>TCA405671378RYR1c.7630A>T (p.Thr2544Ser)
c.7627A>T (p.Thr2543Ser)
c.1082A>T
n.7713A>T
19g.38502523C>ACA405671382RYR1c.7631C>A (p.Thr2544Asn)
c.7628C>A (p.Thr2543Asn)
c.1083C>A
n.7714C>A
19g.38502523C=CA2335054370RYR1c.7631C= (p.Thr2544=)
c.7628C= (p.Thr2543=)
c.1083C=
n.7714C=
19g.38502523C>GCA069888RYR1c.7631C>G (p.Thr2544Ser)
c.7628C>G (p.Thr2543Ser)
c.1083C>G
n.7714C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502523C>TCA405671380RYR1c.7631C>T (p.Thr2544Ile)
c.7628C>T (p.Thr2543Ile)
c.1083C>T
n.7714C>T
19g.38502524C>ACA507243699RYR1c.7632C>A (p.Thr2544=)
c.7629C>A (p.Thr2543=)
c.1084C>A
n.7715C>A
 gnomAD v4
19g.38502524C=CA2335054371RYR1c.7632C= (p.Thr2544=)
c.7629C= (p.Thr2543=)
c.1084C=
n.7715C=
19g.38502524C>GCA507243700RYR1c.7632C>G (p.Thr2544=)
c.7629C>G (p.Thr2543=)
c.1084C>G
n.7715C>G
 gnomAD v4
19g.38502524C>TCA507243701RYR1c.7632C>T (p.Thr2544=)
c.7629C>T (p.Thr2543=)
c.1084C>T
n.7715C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502525G>ACA082493RYR1c.7633G>A (p.Glu2545Lys)
c.7630G>A (p.Glu2544Lys)
c.1085G>A
n.7716G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.38502525G>CCA069896RYR1c.7633G>C (p.Glu2545Gln)
c.7630G>C (p.Glu2544Gln)
c.1085G>C
n.7716G>C
 dbSNP ExAC
19g.38502525G=CA2335054372RYR1c.7633G= (p.Glu2545=)
c.7630G= (p.Glu2544=)
c.1085G=
n.7716G=
19g.38502525G>TCA405671387RYR1c.7633G>T (p.Glu2545Ter)
c.7630G>T (p.Glu2544Ter)
c.1085G>T
n.7716G>T
 gnomAD v4
19g.38502526A>CCA405671391RYR1c.7634A>C (p.Glu2545Ala)
c.7631A>C (p.Glu2544Ala)
c.1086A>C
n.7717A>C
19g.38502526A>GCA405671393RYR1c.7634A>G (p.Glu2545Gly)
c.7631A>G (p.Glu2544Gly)
c.1086A>G
n.7717A>G
 gnomAD v4
19g.38502526A>TCA405671397RYR1c.7634A>T (p.Glu2545Val)
c.7631A>T (p.Glu2544Val)
c.1086A>T
n.7717A>T
19g.38502527G>ACA308111842RYR1c.7635G>A (p.Glu2545=)
c.7632G>A (p.Glu2544=)
c.1087G>A
n.7718G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502527G>CCA024839RYR1c.7635G>C (p.Glu2545Asp)
c.7632G>C (p.Glu2544Asp)
c.1087G>C
n.7718G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502527G=CA2335053788RYR1c.7635G= (p.Glu2545=)
c.7632G= (p.Glu2544=)
c.1087G=
n.7718G=
19g.38502527G>TCA405671402RYR1c.7635G>T (p.Glu2545Asp)
c.7632G>T (p.Glu2544Asp)
c.1087G>T
n.7718G>T
 gnomAD v4
19g.38502528A=CA2335053791RYR1c.7636A= (p.Met2546=)
c.7633A= (p.Met2545=)
c.1088A=
n.7719A=
19g.38502528A>CCA405671408RYR1c.7636A>C (p.Met2546Leu)
c.7633A>C (p.Met2545Leu)
c.1088A>C
n.7719A>C
19g.38502528A>GCA405671411RYR1c.7636A>G (p.Met2546Val)
c.7633A>G (p.Met2545Val)
c.1088A>G
n.7719A>G
 ClinVar
19g.38502528A>TCA405671412RYR1c.7636A>T (p.Met2546Leu)
c.7633A>T (p.Met2545Leu)
c.1088A>T
n.7719A>T
19g.38502529T>ACA405671417RYR1c.7637T>A (p.Met2546Lys)
c.7634T>A (p.Met2545Lys)
c.1089T>A
n.7720T>A
19g.38502529T>CCA405671419RYR1c.7637T>C (p.Met2546Thr)
c.7634T>C (p.Met2545Thr)
c.1089T>C
n.7720T>C
 ClinVar gnomAD v4
19g.38502529T>GCA405671421RYR1c.7637T>G (p.Met2546Arg)
c.7634T>G (p.Met2545Arg)
c.1089T>G
n.7720T>G
19g.38502537_38502542dupCA069900RYR1c.7645_7650dup (p.Leu2550_Asn2551insAlaLeu)
c.7642_7647dup (p.Leu2549_Asn2550insAlaLeu)
c.1097_1102dup
n.7728_7733dup
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502530G>ACA405671425RYR1c.7638G>A (p.Met2546Ile)
c.7635G>A (p.Met2545Ile)
c.1090G>A
n.7721G>A
 gnomAD v4 COSMIC
19g.38502530G>CCA082519RYR1c.7638G>C (p.Met2546Ile)
c.7635G>C (p.Met2545Ile)
c.1090G>C
n.7721G>C
19g.38502530G>TCA405671422RYR1c.7638G>T (p.Met2546Ile)
c.7635G>T (p.Met2545Ile)
c.1090G>T
n.7721G>T
 gnomAD v4
19g.38502531G>ACA405671427RYR1c.7639G>A (p.Ala2547Thr)
c.7636G>A (p.Ala2546Thr)
c.1091G>A
n.7722G>A
 dbSNP gnomAD v4
19g.38502531G>CCA405671430RYR1c.7639G>C (p.Ala2547Pro)
c.7636G>C (p.Ala2546Pro)
c.1091G>C
n.7722G>C
19g.38502531G=CA2335053801RYR1c.7639G= (p.Ala2547=)
c.7636G= (p.Ala2546=)
c.1091G=
n.7722G=
19g.38502531G>TCA308111849RYR1c.7639G>T (p.Ala2547Ser)
c.7636G>T (p.Ala2546Ser)
c.1091G>T
n.7722G>T
 dbSNP gnomAD v2 gnomAD v4
19g.38502531_38502532insTGGCGCCA082520RYR1c.7639_7640insTGGCGC (p.Ala2547delinsValAlaPro)
c.7636_7637insTGGCGC (p.Ala2546delinsValAlaPro)
c.1091_1092insTGGCGC
n.7722_7723insTGGCGC
19g.38502532C>ACA405671432RYR1c.7640C>A (p.Ala2547Glu)
c.7637C>A (p.Ala2546Glu)
c.1092C>A
n.7723C>A
19g.38502532C=CA2335053804RYR1c.7640C= (p.Ala2547=)
c.7637C= (p.Ala2546=)
c.1092C=
n.7723C=
19g.38502532C>GCA405671434RYR1c.7640C>G (p.Ala2547Gly)
c.7637C>G (p.Ala2546Gly)
c.1092C>G
n.7723C>G
19g.38502532C>TCA069906RYR1c.7640C>T (p.Ala2547Val)
c.7637C>T (p.Ala2546Val)
c.1092C>T
n.7723C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38502533G>ACA507243703RYR1c.7641G>A (p.Ala2547=)
c.7638G>A (p.Ala2546=)
c.1093G>A
n.7724G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38502533G>CCA507243704RYR1c.7641G>C (p.Ala2547=)
c.7638G>C (p.Ala2546=)
c.1093G>C
n.7724G>C
 ClinVar dbSNP gnomAD v4
19g.38502533G=CA2335053809RYR1c.7641G= (p.Ala2547=)
c.7638G= (p.Ala2546=)
c.1093G=
n.7724G=
19g.38502533G>TCA507243705RYR1c.7641G>T (p.Ala2547=)
c.7638G>T (p.Ala2546=)
c.1093G>T
n.7724G>T
 gnomAD v4
19g.38502534C>ACA405671437RYR1c.7642C>A (p.Leu2548Met)
c.7639C>A (p.Leu2547Met)
c.1094C>A
n.7725C>A
 gnomAD v4
19g.38502534C=CA2335053811RYR1c.7642C= (p.Leu2548=)
c.7639C= (p.Leu2547=)
c.1094C=
n.7725C=
19g.38502534C>GCA405671438RYR1c.7642C>G (p.Leu2548Val)
c.7639C>G (p.Leu2547Val)
c.1094C>G
n.7725C>G
19g.38502534C>TCA507243706RYR1c.7642C>T (p.Leu2548=)
c.7639C>T (p.Leu2547=)
c.1094C>T
n.7725C>T
 dbSNP gnomAD v2 gnomAD v4
19g.38502535T>ACA405671441RYR1c.7643T>A (p.Leu2548Gln)
c.7640T>A (p.Leu2547Gln)
c.1095T>A
n.7726T>A
19g.38502535T>CCA405671442RYR1c.7643T>C (p.Leu2548Pro)
c.7640T>C (p.Leu2547Pro)
c.1095T>C
n.7726T>C
19g.38502535T>GCA405671446RYR1c.7643T>G (p.Leu2548Arg)
c.7640T>G (p.Leu2547Arg)
c.1095T>G
n.7726T>G
19g.38502536G>ACA507243707RYR1c.7644G>A (p.Leu2548=)
c.7641G>A (p.Leu2547=)
c.1096G>A
n.7727G>A
19g.38502536G>CCA507243708RYR1c.7644G>C (p.Leu2548=)
c.7641G>C (p.Leu2547=)
c.1096G>C
n.7727G>C
19g.38502536G>TCA507243709RYR1c.7644G>T (p.Leu2548=)
c.7641G>T (p.Leu2547=)
c.1096G>T
n.7727G>T
 gnomAD v4
19g.38502537G>ACA405671450RYR1c.7645G>A (p.Ala2549Thr)
c.7642G>A (p.Ala2548Thr)
c.1097G>A
n.7728G>A
 COSMIC
19g.38502537G>CCA405671453RYR1c.7645G>C (p.Ala2549Pro)
c.7642G>C (p.Ala2548Pro)
c.1097G>C
n.7728G>C
 gnomAD v4
19g.38502537G>TCA405671447RYR1c.7645G>T (p.Ala2549Ser)
c.7642G>T (p.Ala2548Ser)
c.1097G>T
n.7728G>T
 gnomAD v4
19g.38502538C>ACA405671454RYR1c.7646C>A (p.Ala2549Glu)
c.7643C>A (p.Ala2548Glu)
c.1098C>A
n.7729C>A
 gnomAD v4
19g.38502538C=CA2335053814RYR1c.7646C= (p.Ala2549=)
c.7643C= (p.Ala2548=)
c.1098C=
n.7729C=
19g.38502538C>GCA405671457RYR1c.7646C>G (p.Ala2549Gly)
c.7643C>G (p.Ala2548Gly)
c.1098C>G
n.7729C>G
 dbSNP
19g.38502538C>TCA069910RYR1c.7646C>T (p.Ala2549Val)
c.7643C>T (p.Ala2548Val)
c.1098C>T
n.7729C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502539G>ACA069912RYR1c.7647G>A (p.Ala2549=)
c.7644G>A (p.Ala2548=)
c.1099G>A
n.7730G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502539G>CCA507243710RYR1c.7647G>C (p.Ala2549=)
c.7644G>C (p.Ala2548=)
c.1099G>C
n.7730G>C
 dbSNP gnomAD v2 gnomAD v4
19g.38502539G=CA2335053818RYR1c.7647G= (p.Ala2549=)
c.7644G= (p.Ala2548=)
c.1099G=
n.7730G=
19g.38502539G>TCA069916RYR1c.7647G>T (p.Ala2549=)
c.7644G>T (p.Ala2548=)
c.1099G>T
n.7730G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502540C>ACA405671458RYR1c.7648C>A (p.Leu2550Met)
c.7645C>A (p.Leu2549Met)
c.1100C>A
n.7731C>A
19g.38502540C=CA2335053820RYR1c.7648C= (p.Leu2550=)
c.7645C= (p.Leu2549=)
c.1100C=
n.7731C=
19g.38502540C>GCA024842RYR1c.7648C>G (p.Leu2550Val)
c.7645C>G (p.Leu2549Val)
c.1100C>G
n.7731C>G
 ClinVar dbSNP
19g.38502540C>TCA507243711RYR1c.7648C>T (p.Leu2550=)
c.7645C>T (p.Leu2549=)
c.1100C>T
n.7731C>T
 gnomAD v4
19g.38502541T>ACA405671461RYR1c.7649T>A (p.Leu2550Gln)
c.7646T>A (p.Leu2549Gln)
c.1101T>A
n.7732T>A
19g.38502541T>CCA405671462RYR1c.7649T>C (p.Leu2550Pro)
c.7646T>C (p.Leu2549Pro)
c.1101T>C
n.7732T>C
 gnomAD v4
19g.38502541T>GCA405671465RYR1c.7649T>G (p.Leu2550Arg)
c.7646T>G (p.Leu2549Arg)
c.1101T>G
n.7732T>G
19g.38502541_38502542delinsTGCA2335053823RYR1c.7649_7650delinsTG (p.Leu2550=)
c.7646_7647delinsTG (p.Leu2549=)
c.1101_1102delinsTG
n.7732_7733delinsTG
19g.38502542delCA069919RYR1c.7650del (p.Asn2551ThrfsTer?)
c.7647del (p.Asn2550ThrfsTer?)
c.1102del
n.7733del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502542G>ACA069923RYR1c.7650G>A (p.Leu2550=)
c.7647G>A (p.Leu2549=)
c.1102G>A
n.7733G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38502542G>CCA507243712RYR1c.7650G>C (p.Leu2550=)
c.7647G>C (p.Leu2549=)
c.1102G>C
n.7733G>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38502542G=CA2335053829RYR1c.7650G= (p.Leu2550=)
c.7647G= (p.Leu2549=)
c.1102G=
n.7733G=
19g.38502542G>TCA082522RYR1c.7650G>T (p.Leu2550=)
c.7647G>T (p.Leu2549=)
c.1102G>T
n.7733G>T
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
19g.38502543A>CCA405671473RYR1c.7651A>C (p.Asn2551His)
c.7648A>C (p.Asn2550His)
c.1103A>C
n.7734A>C
 gnomAD v4
19g.38502543A>GCA405671475RYR1c.7651A>G (p.Asn2551Asp)
c.7648A>G (p.Asn2550Asp)
c.1103A>G
n.7734A>G
19g.38502543A>TCA405671471RYR1c.7651A>T (p.Asn2551Tyr)
c.7648A>T (p.Asn2550Tyr)
c.1103A>T
n.7734A>T
19g.38502543_38502549delinsAACCGCTCA2335053833RYR1c.7651_7657delinsAACCGCT (p.Asn2551=)
c.7648_7654delinsAACCGCT (p.Asn2550=)
c.1103_1109delinsAACCGCT
n.7734_7740delinsAACCGCT
19g.38502544A>CCA405671479RYR1c.7652A>C (p.Asn2551Thr)
c.7649A>C (p.Asn2550Thr)
c.1104A>C
n.7735A>C
19g.38502544A>GCA405671481RYR1c.7652A>G (p.Asn2551Ser)
c.7649A>G (p.Asn2550Ser)
c.1104A>G
n.7735A>G
19g.38502544A>TCA405671482RYR1c.7652A>T (p.Asn2551Ile)
c.7649A>T (p.Asn2550Ile)
c.1104A>T
n.7735A>T
19g.38502547_38502552delCA891863026RYR1c.7655_7660del (p.Arg2552_Tyr2553del)
c.7652_7657del (p.Arg2551_Tyr2552del)
c.1107_1112del
n.7738_7743del
 ClinVar dbSNP
19g.38502545C>ACA405671485RYR1c.7653C>A (p.Asn2551Lys)
c.7650C>A (p.Asn2550Lys)
c.1105C>A
n.7736C>A
19g.38502545C=CA2335053844RYR1c.7653C= (p.Asn2551=)
c.7650C= (p.Asn2550=)
c.1105C=
n.7736C=
19g.38502545C>GCA405671488RYR1c.7653C>G (p.Asn2551Lys)
c.7650C>G (p.Asn2550Lys)
c.1105C>G
n.7736C>G
19g.38502545C>TCA069925RYR1c.7653C>T (p.Asn2551=)
c.7650C>T (p.Asn2550=)
c.1105C>T
n.7736C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502546C>ACA405671496RYR1c.7654C>A (p.Arg2552Ser)
c.7651C>A (p.Arg2551Ser)
c.1106C>A
n.7737C>A
 gnomAD v4
19g.38502546C=CA2335053851RYR1c.7654C= (p.Arg2552=)
c.7651C= (p.Arg2551=)
c.1106C=
n.7737C=
19g.38502546C>GCA405671494RYR1c.7654C>G (p.Arg2552Gly)
c.7651C>G (p.Arg2551Gly)
c.1106C>G
n.7737C>G
19g.38502546C>TCA069928RYR1c.7654C>T (p.Arg2552Cys)
c.7651C>T (p.Arg2551Cys)
c.1106C>T
n.7737C>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.38502546_38502549dupCA2335053850RYR1c.7654_7657dup (p.Tyr2553SerfsTer?)
c.7651_7654dup (p.Tyr2552SerfsTer?)
c.1106_1109dup
n.7737_7740dup
 dbSNP
19g.38502547G>ACA405671498RYR1c.7655G>A (p.Arg2552His)
c.7652G>A (p.Arg2551His)
c.1107G>A
n.7738G>A
 ClinVar gnomAD v4
19g.38502547G>CCA405671500RYR1c.7655G>C (p.Arg2552Pro)
c.7652G>C (p.Arg2551Pro)
c.1107G>C
n.7738G>C
19g.38502547G>TCA405671501RYR1c.7655G>T (p.Arg2552Leu)
c.7652G>T (p.Arg2551Leu)
c.1107G>T
n.7738G>T
 gnomAD v4
19g.38502548C>ACA507243713RYR1c.7656C>A (p.Arg2552=)
c.7653C>A (p.Arg2551=)
c.1108C>A
n.7739C>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38502548C=CA2335053853RYR1c.7656C= (p.Arg2552=)
c.7653C= (p.Arg2551=)
c.1108C=
n.7739C=
19g.38502548C>GCA507243714RYR1c.7656C>G (p.Arg2552=)
c.7653C>G (p.Arg2551=)
c.1108C>G
n.7739C>G
19g.38502548C>TCA082525RYR1c.7656C>T (p.Arg2552=)
c.7653C>T (p.Arg2551=)
c.1108C>T
n.7739C>T
 gnomAD v4
19g.38502549T>ACA405671503RYR1c.7657T>A (p.Tyr2553Asn)
c.7654T>A (p.Tyr2552Asn)
c.1109T>A
n.7740T>A
19g.38502549T>CCA405671505RYR1c.7657T>C (p.Tyr2553His)
c.7654T>C (p.Tyr2552His)
c.1109T>C
n.7740T>C
 dbSNP gnomAD v3 gnomAD v4
19g.38502549T>GCA405671508RYR1c.7657T>G (p.Tyr2553Asp)
c.7654T>G (p.Tyr2552Asp)
c.1109T>G
n.7740T>G
19g.38502549T=CA2335053854RYR1c.7657T= (p.Tyr2553=)
c.7654T= (p.Tyr2552=)
c.1109T=
n.7740T=
19g.38502550A>CCA405671516RYR1c.7658A>C (p.Tyr2553Ser)
c.7655A>C (p.Tyr2552Ser)
c.1110A>C
n.7741A>C
 COSMIC
19g.38502550A>GCA405671513RYR1c.7658A>G (p.Tyr2553Cys)
c.7655A>G (p.Tyr2552Cys)
c.1110A>G
n.7741A>G
19g.38502550A>TCA405671511RYR1c.7658A>T (p.Tyr2553Phe)
c.7655A>T (p.Tyr2552Phe)
c.1110A>T
n.7741A>T
19g.38502551C>ACA082498RYR1c.7659C>A (p.Tyr2553Ter)
c.7656C>A (p.Tyr2552Ter)
c.1111C>A
n.7742C>A
19g.38502551C=CA2335053857RYR1c.7659C= (p.Tyr2553=)
c.7656C= (p.Tyr2552=)
c.1111C=
n.7742C=
19g.38502551C>GCA405671518RYR1c.7659C>G (p.Tyr2553Ter)
c.7656C>G (p.Tyr2552Ter)
c.1111C>G
n.7742C>G
19g.38502551C>TCA069929RYR1c.7659C>T (p.Tyr2553=)
c.7656C>T (p.Tyr2552=)
c.1111C>T
n.7742C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502552C>ACA405671521RYR1c.7660C>A (p.Leu2554Met)
c.7657C>A (p.Leu2553Met)
c.1112C>A
n.7743C>A
 gnomAD v4
19g.38502552C=CA2335053861RYR1c.7660C= (p.Leu2554=)
c.7657C= (p.Leu2553=)
c.1112C=
n.7743C=
19g.38502552C>GCA405671524RYR1c.7660C>G (p.Leu2554Val)
c.7657C>G (p.Leu2553Val)
c.1112C>G
n.7743C>G
 gnomAD v4
19g.38502552C>TCA507243715RYR1c.7660C>T (p.Leu2554=)
c.7657C>T (p.Leu2553=)
c.1112C>T
n.7743C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502553T>ACA405671525RYR1c.7661T>A (p.Leu2554Gln)
c.7658T>A (p.Leu2553Gln)
c.1113T>A
n.7744T>A
19g.38502553T>CCA405671527RYR1c.7661T>C (p.Leu2554Pro)
c.7658T>C (p.Leu2553Pro)
c.1113T>C
n.7744T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502553T>GCA405671529RYR1c.7661T>G (p.Leu2554Arg)
c.7658T>G (p.Leu2553Arg)
c.1113T>G
n.7744T>G
19g.38502553T=CA2335053864RYR1c.7661T= (p.Leu2554=)
c.7658T= (p.Leu2553=)
c.1113T=
n.7744T=
19g.38502554G>ACA507243716RYR1c.7662G>A (p.Leu2554=)
c.7659G>A (p.Leu2553=)
c.1114G>A
n.7745G>A
 ClinVar dbSNP
19g.38502554G>CCA507243717RYR1c.7662G>C (p.Leu2554=)
c.7659G>C (p.Leu2553=)
c.1114G>C
n.7745G>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38502554G=CA2335053867RYR1c.7662G= (p.Leu2554=)
c.7659G= (p.Leu2553=)
c.1114G=
n.7745G=
19g.38502554G>TCA507243718RYR1c.7662G>T (p.Leu2554=)
c.7659G>T (p.Leu2553=)
c.1114G>T
n.7745G>T
 gnomAD v4
19g.38502555T>ACA405671531RYR1c.7663T>A (p.Cys2555Ser)
c.7660T>A (p.Cys2554Ser)
c.1115T>A
n.7746T>A
19g.38502555T>CCA405671535RYR1c.7663T>C (p.Cys2555Arg)
c.7660T>C (p.Cys2554Arg)
c.1115T>C
n.7746T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38502555T>GCA405671533RYR1c.7663T>G (p.Cys2555Gly)
c.7660T>G (p.Cys2554Gly)
c.1115T>G
n.7746T>G
 ClinVar dbSNP
19g.38502555T=CA2335053873RYR1c.7663T= (p.Cys2555=)
c.7660T= (p.Cys2554=)
c.1115T=
n.7746T=
19g.38502556G>ACA405671537RYR1c.7664G>A (p.Cys2555Tyr)
c.7661G>A (p.Cys2554Tyr)
c.1116G>A
n.7747G>A
19g.38502556G>CCA405671538RYR1c.7664G>C (p.Cys2555Ser)
c.7661G>C (p.Cys2554Ser)
c.1116G>C
n.7747G>C
19g.38502556G=CA2335053877RYR1c.7664G= (p.Cys2555=)
c.7661G= (p.Cys2554=)
c.1116G=
n.7747G=
19g.38502556G>TCA405671540RYR1c.7664G>T (p.Cys2555Phe)
c.7661G>T (p.Cys2554Phe)
c.1116G>T
n.7747G>T
 dbSNP gnomAD v4
19g.38502557C>ACA405671542RYR1c.7665C>A (p.Cys2555Ter)
c.7662C>A (p.Cys2554Ter)
c.1117C>A
n.7748C>A
19g.38502557C=CA2335053880RYR1c.7665C= (p.Cys2555=)
c.7662C= (p.Cys2554=)
c.1117C=
n.7748C=
19g.38502557C>GCA405671545RYR1c.7665C>G (p.Cys2555Trp)
c.7662C>G (p.Cys2554Trp)
c.1117C>G
n.7748C>G
 gnomAD v4
19g.38502557C>TCA507243719RYR1c.7665C>T (p.Cys2555=)
c.7662C>T (p.Cys2554=)
c.1117C>T
n.7748C>T
 dbSNP gnomAD v3 gnomAD v4
19g.38502558C>ACA405671546RYR1c.7666C>A (p.Leu2556Met)
c.7663C>A (p.Leu2555Met)
c.1118C>A
n.7749C>A
19g.38502558C=CA2335053882RYR1c.7666C= (p.Leu2556=)
c.7663C= (p.Leu2555=)
c.1118C=
n.7749C=
19g.38502558C>GCA405671547RYR1c.7666C>G (p.Leu2556Val)
c.7663C>G (p.Leu2555Val)
c.1118C>G
n.7749C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502558C>TCA069936RYR1c.7666C>T (p.Leu2556=)
c.7663C>T (p.Leu2555=)
c.1118C>T
n.7749C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502559T>ACA405671548RYR1c.7667T>A (p.Leu2556Gln)
c.7664T>A (p.Leu2555Gln)
c.1119T>A
n.7750T>A
19g.38502559T>CCA405671549RYR1c.7667T>C (p.Leu2556Pro)
c.7664T>C (p.Leu2555Pro)
c.1119T>C
n.7750T>C
19g.38502559T>GCA405671550RYR1c.7667T>G (p.Leu2556Arg)
c.7664T>G (p.Leu2555Arg)
c.1119T>G
n.7750T>G
19g.38502560G>ACA069940RYR1c.7668G>A (p.Leu2556=)
c.7665G>A (p.Leu2555=)
c.1120G>A
n.7751G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502560G>CCA507243721RYR1c.7668G>C (p.Leu2556=)
c.7665G>C (p.Leu2555=)
c.1120G>C
n.7751G>C
19g.38502560G=CA2335053885RYR1c.7668G= (p.Leu2556=)
c.7665G= (p.Leu2555=)
c.1120G=
n.7751G=
19g.38502560G>TCA507243720RYR1c.7668G>T (p.Leu2556=)
c.7665G>T (p.Leu2555=)
c.1120G>T
n.7751G>T
 ClinVar dbSNP gnomAD v4
19g.38502561G>ACA405671551RYR1c.7669G>A (p.Ala2557Thr)
c.7666G>A (p.Ala2556Thr)
c.1121G>A
n.7752G>A
 gnomAD v4
19g.38502561G>CCA405671552RYR1c.7669G>C (p.Ala2557Pro)
c.7666G>C (p.Ala2556Pro)
c.1121G>C
n.7752G>C
19g.38502561G>TCA405671553RYR1c.7669G>T (p.Ala2557Ser)
c.7666G>T (p.Ala2556Ser)
c.1121G>T
n.7752G>T
 gnomAD v4
19g.38502562C>ACA405671554RYR1c.7670C>A (p.Ala2557Asp)
c.7667C>A (p.Ala2556Asp)
c.1122C>A
n.7753C>A
 dbSNP gnomAD v4
19g.38502562C=CA2335053887RYR1c.7670C= (p.Ala2557=)
c.7667C= (p.Ala2556=)
c.1122C=
n.7753C=
19g.38502562C>GCA405671555RYR1c.7670C>G (p.Ala2557Gly)
c.7667C>G (p.Ala2556Gly)
c.1122C>G
n.7753C>G
19g.38502562C>TCA405671556RYR1c.7670C>T (p.Ala2557Val)
c.7667C>T (p.Ala2556Val)
c.1122C>T
n.7753C>T
 ClinVar COSMIC
19g.38502563C>ACA507243722RYR1c.7671C>A (p.Ala2557=)
c.7668C>A (p.Ala2556=)
c.1123C>A
n.7754C>A
19g.38502563C=CA2335053889RYR1c.7671C= (p.Ala2557=)
c.7668C= (p.Ala2556=)
c.1123C=
n.7754C=
19g.38502563C>GCA507243723RYR1c.7671C>G (p.Ala2557=)
c.7668C>G (p.Ala2556=)
c.1123C>G
n.7754C>G
 dbSNP gnomAD v2 gnomAD v4
19g.38502563C>TCA507243724RYR1c.7671C>T (p.Ala2557=)
c.7668C>T (p.Ala2556=)
c.1123C>T
n.7754C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502564G>ACA069952RYR1c.7672G>A (p.Val2558Met)
c.7669G>A (p.Val2557Met)
c.1124G>A
n.7755G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502564G>CCA405671558RYR1c.7672G>C (p.Val2558Leu)
c.7669G>C (p.Val2557Leu)
c.1124G>C
n.7755G>C
 dbSNP gnomAD v2 gnomAD v4
19g.38502564G=CA2335053893RYR1c.7672G= (p.Val2558=)
c.7669G= (p.Val2557=)
c.1124G=
n.7755G=
19g.38502564G>TCA405671559RYR1c.7672G>T (p.Val2558Leu)
c.7669G>T (p.Val2557Leu)
c.1124G>T
n.7755G>T
 ClinVar COSMIC
19g.38502565T>ACA405671562RYR1c.7673T>A (p.Val2558Glu)
c.7670T>A (p.Val2557Glu)
c.1125T>A
n.7756T>A
19g.38502565T>CCA069957RYR1c.7673T>C (p.Val2558Ala)
c.7670T>C (p.Val2557Ala)
c.1125T>C
n.7756T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502565T>GCA405671564RYR1c.7673T>G (p.Val2558Gly)
c.7670T>G (p.Val2557Gly)
c.1125T>G
n.7756T>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502565T=CA2335053899RYR1c.7673T= (p.Val2558=)
c.7670T= (p.Val2557=)
c.1125T=
n.7756T=
19g.38502566G>ACA507243725RYR1c.7674G>A (p.Val2558=)
c.7671G>A (p.Val2557=)
c.1126G>A
n.7757G>A
 dbSNP gnomAD v3 gnomAD v4
19g.38502566G>CCA507243726RYR1c.7674G>C (p.Val2558=)
c.7671G>C (p.Val2557=)
c.1126G>C
n.7757G>C
19g.38502566G=CA2335053900RYR1c.7674G= (p.Val2558=)
c.7671G= (p.Val2557=)
c.1126G=
n.7757G=
19g.38502566G>TCA507243727RYR1c.7674G>T (p.Val2558=)
c.7671G>T (p.Val2557=)
c.1126G>T
n.7757G>T
 gnomAD v4
19g.38502567C>ACA405671567RYR1c.7675C>A (p.Leu2559Met)
c.7672C>A (p.Leu2558Met)
c.1127C>A
n.7758C>A
19g.38502567C>GCA405671570RYR1c.7675C>G (p.Leu2559Val)
c.7672C>G (p.Leu2558Val)
c.1127C>G
n.7758C>G
 dbSNP
19g.38502567C>TCA507243728RYR1c.7675C>T (p.Leu2559=)
c.7672C>T (p.Leu2558=)
c.1127C>T
n.7758C>T
 gnomAD v4
19g.38502568T>ACA069960RYR1c.7676T>A (p.Leu2559Gln)
c.7673T>A (p.Leu2558Gln)
c.1128T>A
n.7759T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502568T>CCA082531RYR1c.7676T>C (p.Leu2559Pro)
c.7673T>C (p.Leu2558Pro)
c.1128T>C
n.7759T>C
19g.38502568T>GCA405671572RYR1c.7676T>G (p.Leu2559Arg)
c.7673T>G (p.Leu2558Arg)
c.1128T>G
n.7759T>G
 dbSNP
19g.38502568T=CA2335053904RYR1c.7676T= (p.Leu2559=)
c.7673T= (p.Leu2558=)
c.1128T=
n.7759T=
19g.38502571_38502589delCA2584900595RYR1c.7679_7697del (p.Pro2560ArgfsTer?)
c.7676_7694del (p.Pro2559ArgfsTer?)
c.1131_1149del
n.7762_7780del
 gnomAD v4
19g.38502569G>ACA507243729RYR1c.7677G>A (p.Leu2559=)
c.7674G>A (p.Leu2558=)
c.1129G>A
n.7760G>A
 ClinVar dbSNP gnomAD v4
19g.38502569G>CCA507243730RYR1c.7677G>C (p.Leu2559=)
c.7674G>C (p.Leu2558=)
c.1129G>C
n.7760G>C
19g.38502569G=CA2335053909RYR1c.7677G= (p.Leu2559=)
c.7674G= (p.Leu2558=)
c.1129G=
n.7760G=
19g.38502569G>TCA507243731RYR1c.7677G>T (p.Leu2559=)
c.7674G>T (p.Leu2558=)
c.1129G>T
n.7760G>T
 gnomAD v4
19g.38502570C>ACA405671573RYR1c.7678C>A (p.Pro2560Thr)
c.7675C>A (p.Pro2559Thr)
c.1130C>A
n.7761C>A
19g.38502570C=CA2335053911RYR1c.7678C= (p.Pro2560=)
c.7675C= (p.Pro2559=)
c.1130C=
n.7761C=
19g.38502570C>GCA405671576RYR1c.7678C>G (p.Pro2560Ala)
c.7675C>G (p.Pro2559Ala)
c.1130C>G
n.7761C>G
19g.38502570C>TCA069964RYR1c.7678C>T (p.Pro2560Ser)
c.7675C>T (p.Pro2559Ser)
c.1130C>T
n.7761C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502571C>ACA405671582RYR1c.7679C>A (p.Pro2560Gln)
c.7676C>A (p.Pro2559Gln)
c.1131C>A
n.7762C>A
19g.38502571C=CA2335053914RYR1c.7679C= (p.Pro2560=)
c.7676C= (p.Pro2559=)
c.1131C=
n.7762C=
19g.38502571C>GCA405671583RYR1c.7679C>G (p.Pro2560Arg)
c.7676C>G (p.Pro2559Arg)
c.1131C>G
n.7762C>G
 ClinVar dbSNP gnomAD v4
19g.38502571C>TCA405671586RYR1c.7679C>T (p.Pro2560Leu)
c.7676C>T (p.Pro2559Leu)
c.1131C>T
n.7762C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.38502572G>ACA069972RYR1c.7680G>A (p.Pro2560=)
c.7677G>A (p.Pro2559=)
c.1132G>A
n.7763G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502572G>CCA507243732RYR1c.7680G>C (p.Pro2560=)
c.7677G>C (p.Pro2559=)
c.1132G>C
n.7763G>C
19g.38502572G=CA2335053920RYR1c.7680G= (p.Pro2560=)
c.7677G= (p.Pro2559=)
c.1132G=
n.7763G=
19g.38502572G>TCA069978RYR1c.7680G>T (p.Pro2560=)
c.7677G>T (p.Pro2559=)
c.1132G>T
n.7763G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502573C>ACA405671593RYR1c.7681C>A (p.Leu2561Ile)
c.7678C>A (p.Leu2560Ile)
c.1133C>A
n.7764C>A
19g.38502573C=CA2335053925RYR1c.7681C= (p.Leu2561=)
c.7678C= (p.Leu2560=)
c.1133C=
n.7764C=
19g.38502573C>GCA405671590RYR1c.7681C>G (p.Leu2561Val)
c.7678C>G (p.Leu2560Val)
c.1133C>G
n.7764C>G
 gnomAD v4
19g.38502573C>TCA082533RYR1c.7681C>T (p.Leu2561Phe)
c.7678C>T (p.Leu2560Phe)
c.1133C>T
n.7764C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502574T>ACA405671595RYR1c.7682T>A (p.Leu2561His)
c.7679T>A (p.Leu2560His)
c.1134T>A
n.7765T>A
19g.38502574T>CCA405671597RYR1c.7682T>C (p.Leu2561Pro)
c.7679T>C (p.Leu2560Pro)
c.1134T>C
n.7765T>C
19g.38502574T>GCA405671600RYR1c.7682T>G (p.Leu2561Arg)
c.7679T>G (p.Leu2560Arg)
c.1134T>G
n.7765T>G
19g.38502575C>ACA507243733RYR1c.7683C>A (p.Leu2561=)
c.7680C>A (p.Leu2560=)
c.1135C>A
n.7766C>A
19g.38502575C=CA2335053931RYR1c.7683C= (p.Leu2561=)
c.7680C= (p.Leu2560=)
c.1135C=
n.7766C=
19g.38502575C>GCA507243734RYR1c.7683C>G (p.Leu2561=)
c.7680C>G (p.Leu2560=)
c.1135C>G
n.7766C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502575C>TCA082535RYR1c.7683C>T (p.Leu2561=)
c.7680C>T (p.Leu2560=)
c.1135C>T
n.7766C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502576A=CA2335053936RYR1c.7684A= (p.Ile2562=)
c.7681A= (p.Ile2561=)
c.1136A=
n.7767A=
19g.38502576A>CCA405671603RYR1c.7684A>C (p.Ile2562Leu)
c.7681A>C (p.Ile2561Leu)
c.1136A>C
n.7767A>C
19g.38502576A>GCA405671604RYR1c.7684A>G (p.Ile2562Val)
c.7681A>G (p.Ile2561Val)
c.1136A>G
n.7767A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38502576A>TCA405671605RYR1c.7684A>T (p.Ile2562Phe)
c.7681A>T (p.Ile2561Phe)
c.1136A>T
n.7767A>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502577T>ACA405671606RYR1c.7685T>A (p.Ile2562Asn)
c.7682T>A (p.Ile2561Asn)
c.1137T>A
n.7768T>A
19g.38502577T>CCA069984RYR1c.7685T>C (p.Ile2562Thr)
c.7682T>C (p.Ile2561Thr)
c.1137T>C
n.7768T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502577T>GCA405671608RYR1c.7685T>G (p.Ile2562Ser)
c.7682T>G (p.Ile2561Ser)
c.1137T>G
n.7768T>G
19g.38502577T=CA2335053942RYR1c.7685T= (p.Ile2562=)
c.7682T= (p.Ile2561=)
c.1137T=
n.7768T=
19g.38502578C>ACA507243735RYR1c.7686C>A (p.Ile2562=)
c.7683C>A (p.Ile2561=)
c.1138C>A
n.7769C>A
19g.38502578C=CA2335053947RYR1c.7686C= (p.Ile2562=)
c.7683C= (p.Ile2561=)
c.1138C=
n.7769C=
19g.38502578C>GCA405671612RYR1c.7686C>G (p.Ile2562Met)
c.7683C>G (p.Ile2561Met)
c.1138C>G
n.7769C>G
19g.38502578C>TCA069989RYR1c.7686C>T (p.Ile2562=)
c.7683C>T (p.Ile2561=)
c.1138C>T
n.7769C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502579A=CA2335053951RYR1c.7687A= (p.Thr2563=)
c.7684A= (p.Thr2562=)
c.1139A=
n.7770A=
19g.38502579A>CCA405671614RYR1c.7687A>C (p.Thr2563Pro)
c.7684A>C (p.Thr2562Pro)
c.1139A>C
n.7770A>C
19g.38502579A>GCA405671617RYR1c.7687A>G (p.Thr2563Ala)
c.7684A>G (p.Thr2562Ala)
c.1139A>G
n.7770A>G
 dbSNP
19g.38502579A>TCA405671616RYR1c.7687A>T (p.Thr2563Ser)
c.7684A>T (p.Thr2562Ser)
c.1139A>T
n.7770A>T
19g.38502580C>ACA405671618RYR1c.7688C>A (p.Thr2563Asn)
c.7685C>A (p.Thr2562Asn)
c.1140C>A
n.7771C>A
19g.38502580C>GCA405671621RYR1c.7688C>G (p.Thr2563Ser)
c.7685C>G (p.Thr2562Ser)
c.1140C>G
n.7771C>G
19g.38502580C>TCA405671620RYR1c.7688C>T (p.Thr2563Ile)
c.7685C>T (p.Thr2562Ile)
c.1140C>T
n.7771C>T
 ClinVar gnomAD v4
19g.38502581C>ACA507243736RYR1c.7689C>A (p.Thr2563=)
c.7686C>A (p.Thr2562=)
c.1141C>A
n.7772C>A
19g.38502581C=CA2335053954RYR1c.7689C= (p.Thr2563=)
c.7686C= (p.Thr2562=)
c.1141C=
n.7772C=
19g.38502581C>GCA069992RYR1c.7689C>G (p.Thr2563=)
c.7686C>G (p.Thr2562=)
c.1141C>G
n.7772C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502581C>TCA082537RYR1c.7689C>T (p.Thr2563=)
c.7686C>T (p.Thr2562=)
c.1141C>T
n.7772C>T
19g.38502582A>CCA405671625RYR1c.7690A>C (p.Lys2564Gln)
c.7687A>C (p.Lys2563Gln)
c.1142A>C
n.7773A>C
19g.38502582A>GCA405671626RYR1c.7690A>G (p.Lys2564Glu)
c.7687A>G (p.Lys2563Glu)
c.1142A>G
n.7773A>G
19g.38502582A>TCA405671629RYR1c.7690A>T (p.Lys2564Ter)
c.7687A>T (p.Lys2563Ter)
c.1142A>T
n.7773A>T
19g.38502583A>CCA405671632RYR1c.7691A>C (p.Lys2564Thr)
c.7688A>C (p.Lys2563Thr)
c.1143A>C
n.7774A>C
 ClinVar
19g.38502583A>GCA405671635RYR1c.7691A>G (p.Lys2564Arg)
c.7688A>G (p.Lys2563Arg)
c.1143A>G
n.7774A>G
19g.38502583A>TCA405671638RYR1c.7691A>T (p.Lys2564Met)
c.7688A>T (p.Lys2563Met)
c.1143A>T
n.7774A>T
19g.38502584G>ACA10587319RYR1c.7692G>A (p.Lys2564=)
c.7689G>A (p.Lys2563=)
c.1144G>A
n.7775G>A
 ClinVar dbSNP gnomAD v4
19g.38502584G>CCA405671644RYR1c.7692G>C (p.Lys2564Asn)
c.7689G>C (p.Lys2563Asn)
c.1144G>C
n.7775G>C
 ClinVar dbSNP gnomAD v4
19g.38502584G=CA2335053962RYR1c.7692G= (p.Lys2564=)
c.7689G= (p.Lys2563=)
c.1144G=
n.7775G=
19g.38502584G>TCA405671646RYR1c.7692G>T (p.Lys2564Asn)
c.7689G>T (p.Lys2563Asn)
c.1144G>T
n.7775G>T
 gnomAD v4
19g.38502585T>ACA405671650RYR1c.7693T>A (p.Cys2565Ser)
c.7690T>A (p.Cys2564Ser)
c.1145T>A
n.7776T>A
 gnomAD v4
19g.38502585T>CCA405671647RYR1c.7693T>C (p.Cys2565Arg)
c.7690T>C (p.Cys2564Arg)
c.1145T>C
n.7776T>C
 gnomAD v4
19g.38502585T>GCA308111979RYR1c.7693T>G (p.Cys2565Gly)
c.7690T>G (p.Cys2564Gly)
c.1145T>G
n.7776T>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502585T=CA2335053966RYR1c.7693T= (p.Cys2565=)
c.7690T= (p.Cys2564=)
c.1145T=
n.7776T=
19g.38502586G>ACA405671654RYR1c.7694G>A (p.Cys2565Tyr)
c.7691G>A (p.Cys2564Tyr)
c.1146G>A
n.7777G>A
19g.38502586G>CCA405671658RYR1c.7694G>C (p.Cys2565Ser)
c.7691G>C (p.Cys2564Ser)
c.1146G>C
n.7777G>C
19g.38502586G=CA2335053969RYR1c.7694G= (p.Cys2565=)
c.7691G= (p.Cys2564=)
c.1146G=
n.7777G=
19g.38502586G>TCA405671659RYR1c.7694G>T (p.Cys2565Phe)
c.7691G>T (p.Cys2564Phe)
c.1146G>T
n.7777G>T
 dbSNP gnomAD v2 gnomAD v4
19g.38502587T>ACA405671663RYR1c.7695T>A (p.Cys2565Ter)
c.7692T>A (p.Cys2564Ter)
c.1147T>A
n.7778T>A
19g.38502587T>CCA507243737RYR1c.7695T>C (p.Cys2565=)
c.7692T>C (p.Cys2564=)
c.1147T>C
n.7778T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502587T>GCA070001RYR1c.7695T>G (p.Cys2565Trp)
c.7692T>G (p.Cys2564Trp)
c.1147T>G
n.7778T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502587T=CA2335053973RYR1c.7695T= (p.Cys2565=)
c.7692T= (p.Cys2564=)
c.1147T=
n.7778T=
19g.38502588G>ACA405671664RYR1c.7696G>A (p.Ala2566Thr)
c.7693G>A (p.Ala2565Thr)
c.1148G>A
n.7779G>A
 ClinVar dbSNP gnomAD v4
19g.38502588G>CCA405671666RYR1c.7696G>C (p.Ala2566Pro)
c.7693G>C (p.Ala2565Pro)
c.1148G>C
n.7779G>C
19g.38502588G=CA2335053980RYR1c.7696G= (p.Ala2566=)
c.7693G= (p.Ala2565=)
c.1148G=
n.7779G=
19g.38502588G>TCA070006RYR1c.7696G>T (p.Ala2566Ser)
c.7693G>T (p.Ala2565Ser)
c.1148G>T
n.7779G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502589C>ACA405671668RYR1c.7697C>A (p.Ala2566Glu)
c.7694C>A (p.Ala2565Glu)
c.1149C>A
n.7780C>A
19g.38502589C=CA2335053981RYR1c.7697C= (p.Ala2566=)
c.7694C= (p.Ala2565=)
c.1149C=
n.7780C=
19g.38502589C>GCA405671670RYR1c.7697C>G (p.Ala2566Gly)
c.7694C>G (p.Ala2565Gly)
c.1149C>G
n.7780C>G
19g.38502589C>TCA405671672RYR1c.7697C>T (p.Ala2566Val)
c.7694C>T (p.Ala2565Val)
c.1149C>T
n.7780C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.38502590G>ACA507243738RYR1c.7698G>A (p.Ala2566=)
c.7695G>A (p.Ala2565=)
c.1150G>A
n.7781G>A
 dbSNP gnomAD v4 COSMIC
19g.38502590G>CCA070009RYR1c.7698G>C (p.Ala2566=)
c.7695G>C (p.Ala2565=)
c.1150G>C
n.7781G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502590G=CA2335053985RYR1c.7698G= (p.Ala2566=)
c.7695G= (p.Ala2565=)
c.1150G=
n.7781G=
19g.38502590G>TCA507243739RYR1c.7698G>T (p.Ala2566=)
c.7695G>T (p.Ala2565=)
c.1150G>T
n.7781G>T
 gnomAD v4
19g.38502591C>ACA405671675RYR1c.7699C>A (p.Pro2567Thr)
c.7696C>A (p.Pro2566Thr)
c.1151C>A
n.7782C>A
19g.38502591C=CA2335053989RYR1c.7699C= (p.Pro2567=)
c.7696C= (p.Pro2566=)
c.1151C=
n.7782C=
19g.38502591C>GCA405671677RYR1c.7699C>G (p.Pro2567Ala)
c.7696C>G (p.Pro2566Ala)
c.1151C>G
n.7782C>G
 ClinVar dbSNP gnomAD v4
19g.38502591C>TCA082540RYR1c.7699C>T (p.Pro2567Ser)
c.7696C>T (p.Pro2566Ser)
c.1151C>T
n.7782C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502592C>ACA405671680RYR1c.7700C>A (p.Pro2567Gln)
c.7697C>A (p.Pro2566Gln)
c.1152C>A
n.7783C>A
19g.38502592C=CA2335053994RYR1c.7700C= (p.Pro2567=)
c.7697C= (p.Pro2566=)
c.1152C=
n.7783C=
19g.38502592C>GCA405671684RYR1c.7700C>G (p.Pro2567Arg)
c.7697C>G (p.Pro2566Arg)
c.1152C>G
n.7783C>G
19g.38502592C>TCA070018RYR1c.7700C>T (p.Pro2567Leu)
c.7697C>T (p.Pro2566Leu)
c.1152C>T
n.7783C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502593G>ACA507243740RYR1c.7701G>A (p.Pro2567=)
c.7698G>A (p.Pro2566=)
c.1153G>A
n.7784G>A
 ClinVar dbSNP gnomAD v4
19g.38502593G>CCA082541RYR1c.7701G>C (p.Pro2567=)
c.7698G>C (p.Pro2566=)
c.1153G>C
n.7784G>C
19g.38502593G=CA2335053995RYR1c.7701G= (p.Pro2567=)
c.7698G= (p.Pro2566=)
c.1153G=
n.7784G=
19g.38502593G>TCA507243741RYR1c.7701G>T (p.Pro2567=)
c.7698G>T (p.Pro2566=)
c.1153G>T
n.7784G>T
 gnomAD v4
19g.38502594C>ACA405671689RYR1c.7702C>A (p.Leu2568Ile)
c.7699C>A (p.Leu2567Ile)
c.1154C>A
n.7785C>A
19g.38502594C=CA2335053998RYR1c.7702C= (p.Leu2568=)
c.7699C= (p.Leu2567=)
c.1154C=
n.7785C=
19g.38502594C>GCA405671690RYR1c.7702C>G (p.Leu2568Val)
c.7699C>G (p.Leu2567Val)
c.1154C>G
n.7785C>G
 gnomAD v4
19g.38502594C>TCA082542RYR1c.7702C>T (p.Leu2568Phe)
c.7699C>T (p.Leu2567Phe)
c.1154C>T
n.7785C>T
 dbSNP gnomAD v3 gnomAD v4
19g.38502595T>ACA405671691RYR1c.7703T>A (p.Leu2568His)
c.7700T>A (p.Leu2567His)
c.1155T>A
n.7786T>A
19g.38502595T>CCA405671692RYR1c.7703T>C (p.Leu2568Pro)
c.7700T>C (p.Leu2567Pro)
c.1155T>C
n.7786T>C
 gnomAD v4
19g.38502595T>GCA308112015RYR1c.7703T>G (p.Leu2568Arg)
c.7700T>G (p.Leu2567Arg)
c.1155T>G
n.7786T>G
 dbSNP gnomAD v3 gnomAD v4
19g.38502595T=CA2335054001RYR1c.7703T= (p.Leu2568=)
c.7700T= (p.Leu2567=)
c.1155T=
n.7786T=
19g.38502596C>ACA507243742RYR1c.7704C>A (p.Leu2568=)
c.7701C>A (p.Leu2567=)
c.1156C>A
n.7787C>A
19g.38502596C=CA2335054005RYR1c.7704C= (p.Leu2568=)
c.7701C= (p.Leu2567=)
c.1156C=
n.7787C=
19g.38502596C>GCA507243743RYR1c.7704C>G (p.Leu2568=)
c.7701C>G (p.Leu2567=)
c.1156C>G
n.7787C>G
 dbSNP gnomAD v4
19g.38502596C>TCA308112016RYR1c.7704C>T (p.Leu2568=)
c.7701C>T (p.Leu2567=)
c.1156C>T
n.7787C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502597T>ACA405671696RYR1c.7705T>A (p.Phe2569Ile)
c.7702T>A (p.Phe2568Ile)
c.1157T>A
n.7788T>A
19g.38502597T>CCA405671697RYR1c.7705T>C (p.Phe2569Leu)
c.7702T>C (p.Phe2568Leu)
c.1157T>C
n.7788T>C
19g.38502597T>GCA405671700RYR1c.7705T>G (p.Phe2569Val)
c.7702T>G (p.Phe2568Val)
c.1157T>G
n.7788T>G
19g.38502598_38502599delCA913015954RYR1c.7706_7707del (p.Phe2569CysfsTer?)
c.7703_7704del (p.Phe2568CysfsTer?)
c.1158_1159del
n.7789_7790del
19g.38502598T>ACA405671704RYR1c.7706T>A (p.Phe2569Tyr)
c.7703T>A (p.Phe2568Tyr)
c.1158T>A
n.7789T>A
19g.38502598T>CCA070023RYR1c.7706T>C (p.Phe2569Ser)
c.7703T>C (p.Phe2568Ser)
c.1158T>C
n.7789T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502598T>GCA308112023RYR1c.7706T>G (p.Phe2569Cys)
c.7703T>G (p.Phe2568Cys)
c.1158T>G
n.7789T>G
 ClinVar dbSNP gnomAD v4
19g.38502598T=CA2335054009RYR1c.7706T= (p.Phe2569=)
c.7703T= (p.Phe2568=)
c.1158T=
n.7789T=
19g.38502599T>ACA405671708RYR1c.7707T>A (p.Phe2569Leu)
c.7704T>A (p.Phe2568Leu)
c.1159T>A
n.7790T>A
 gnomAD v4
19g.38502599T>CCA308112030RYR1c.7707T>C (p.Phe2569=)
c.7704T>C (p.Phe2568=)
c.1159T>C
n.7790T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502599T>GCA405671715RYR1c.7707T>G (p.Phe2569Leu)
c.7704T>G (p.Phe2568Leu)
c.1159T>G
n.7790T>G
19g.38502599T=CA2335054012RYR1c.7707T= (p.Phe2569=)
c.7704T= (p.Phe2568=)
c.1159T=
n.7790T=
19g.38502600G>ACA405671720RYR1c.7708G>A (p.Ala2570Thr)
c.7705G>A (p.Ala2569Thr)
c.1160G>A
n.7791G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502600G>CCA405671722RYR1c.7708G>C (p.Ala2570Pro)
c.7705G>C (p.Ala2569Pro)
c.1160G>C
n.7791G>C
 ClinVar
19g.38502600G=CA2335054014RYR1c.7708G= (p.Ala2570=)
c.7705G= (p.Ala2569=)
c.1160G=
n.7791G=
19g.38502600G>TCA405671724RYR1c.7708G>T (p.Ala2570Ser)
c.7705G>T (p.Ala2569Ser)
c.1160G>T
n.7791G>T

Number of alleles fetched