Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38499190C>ACA405667344RYR1c.6974C>A (p.Pro2325His)
c.6971C>A (p.Pro2324His)
c.426C>A
n.7057C>A
19g.38499190C>GCA405667346RYR1c.6974C>G (p.Pro2325Arg)
c.6971C>G (p.Pro2324Arg)
c.426C>G
n.7057C>G
19g.38499190C>TCA405667347RYR1c.6974C>T (p.Pro2325Leu)
c.6971C>T (p.Pro2324Leu)
c.426C>T
n.7057C>T
19g.38499191C>ACA507243194RYR1c.6975C>A (p.Pro2325=)
c.6972C>A (p.Pro2324=)
c.427C>A
n.7058C>A
19g.38499191C>GCA507243196RYR1c.6975C>G (p.Pro2325=)
c.6972C>G (p.Pro2324=)
c.427C>G
n.7058C>G
19g.38499191C>TCA507243199RYR1c.6975C>T (p.Pro2325=)
c.6972C>T (p.Pro2324=)
c.427C>T
n.7058C>T
 ClinVar dbSNP gnomAD v4
19g.38499192T>ACA405667348RYR1c.6976T>A (p.Cys2326Ser)
c.6973T>A (p.Cys2325Ser)
c.428T>A
n.7059T>A
19g.38499192T>CCA405667350RYR1c.6976T>C (p.Cys2326Arg)
c.6973T>C (p.Cys2325Arg)
c.428T>C
n.7059T>C
19g.38499192T>GCA405667352RYR1c.6976T>G (p.Cys2326Gly)
c.6973T>G (p.Cys2325Gly)
c.428T>G
n.7059T>G
19g.38499193G>ACA405667355RYR1c.6977G>A (p.Cys2326Tyr)
c.6974G>A (p.Cys2325Tyr)
c.429G>A
n.7060G>A
19g.38499193G>CCA405667356RYR1c.6977G>C (p.Cys2326Ser)
c.6974G>C (p.Cys2325Ser)
c.429G>C
n.7060G>C
 dbSNP gnomAD v4
19g.38499193G>TCA405667354RYR1c.6977G>T (p.Cys2326Phe)
c.6974G>T (p.Cys2325Phe)
c.429G>T
n.7060G>T
19g.38499194T>ACA405667358RYR1c.6978T>A (p.Cys2326Ter)
c.6975T>A (p.Cys2325Ter)
c.430T>A
n.7061T>A
19g.38499194T>CCA507243203RYR1c.6978T>C (p.Cys2326=)
c.6975T>C (p.Cys2325=)
c.430T>C
n.7061T>C
 dbSNP
19g.38499194T>GCA405667360RYR1c.6978T>G (p.Cys2326Trp)
c.6975T>G (p.Cys2325Trp)
c.430T>G
n.7061T>G
19g.38499194T=CA2335052624RYR1c.6978T= (p.Cys2326=)
c.6975T= (p.Cys2325=)
c.430T=
n.7061T=
19g.38499195G>ACA405667361RYR1c.6979G>A (p.Gly2327Ser)
c.6976G>A (p.Gly2326Ser)
c.431G>A
n.7062G>A
19g.38499195G>CCA405667363RYR1c.6979G>C (p.Gly2327Arg)
c.6976G>C (p.Gly2326Arg)
c.431G>C
n.7062G>C
19g.38499195G>TCA405667364RYR1c.6979G>T (p.Gly2327Cys)
c.6976G>T (p.Gly2326Cys)
c.431G>T
n.7062G>T
19g.38499196G>ACA405667365RYR1c.6980G>A (p.Gly2327Asp)
c.6977G>A (p.Gly2326Asp)
c.432G>A
n.7063G>A
19g.38499196G>CCA405667366RYR1c.6980G>C (p.Gly2327Ala)
c.6977G>C (p.Gly2326Ala)
c.432G>C
n.7063G>C
19g.38499196G>TCA405667367RYR1c.6980G>T (p.Gly2327Val)
c.6977G>T (p.Gly2326Val)
c.432G>T
n.7063G>T
19g.38499197T>ACA507243205RYR1c.6981T>A (p.Gly2327=)
c.6978T>A (p.Gly2326=)
c.433T>A
n.7064T>A
19g.38499197T>CCA507243207RYR1c.6981T>C (p.Gly2327=)
c.6978T>C (p.Gly2326=)
c.433T>C
n.7064T>C
19g.38499197T>GCA507243209RYR1c.6981T>G (p.Gly2327=)
c.6978T>G (p.Gly2326=)
c.433T>G
n.7064T>G
19g.38499198G>ACA405667368RYR1c.6982G>A (p.Gly2328Arg)
c.6979G>A (p.Gly2327Arg)
c.434G>A
n.7065G>A
 ClinVar dbSNP gnomAD v4
19g.38499198G>CCA405667370RYR1c.6982G>C (p.Gly2328Arg)
c.6979G>C (p.Gly2327Arg)
c.434G>C
n.7065G>C
19g.38499198G=CA2335052625RYR1c.6982G= (p.Gly2328=)
c.6979G= (p.Gly2327=)
c.434G=
n.7065G=
19g.38499198G>TCA405667372RYR1c.6982G>T (p.Gly2328Ter)
c.6979G>T (p.Gly2327Ter)
c.434G>T
n.7065G>T
19g.38499199G>ACA405667375RYR1c.6983G>A (p.Gly2328Glu)
c.6980G>A (p.Gly2327Glu)
c.435G>A
n.7066G>A
19g.38499199G>CCA405667377RYR1c.6983G>C (p.Gly2328Ala)
c.6980G>C (p.Gly2327Ala)
c.435G>C
n.7066G>C
19g.38499199G>TCA405667374RYR1c.6983G>T (p.Gly2328Val)
c.6980G>T (p.Gly2327Val)
c.435G>T
n.7066G>T
19g.38499200A>CCA507243215RYR1c.6984A>C (p.Gly2328=)
c.6981A>C (p.Gly2327=)
c.436A>C
n.7067A>C
19g.38499200A>GCA507243213RYR1c.6984A>G (p.Gly2328=)
c.6981A>G (p.Gly2327=)
c.436A>G
n.7067A>G
19g.38499200A>TCA507243214RYR1c.6984A>T (p.Gly2328=)
c.6981A>T (p.Gly2327=)
c.436A>T
n.7067A>T
19g.38499201G>ACA405667379RYR1c.6985G>A (p.Glu2329Lys)
c.6982G>A (p.Glu2328Lys)
c.437G>A
n.7068G>A
 COSMIC
19g.38499201G>CCA405667380RYR1c.6985G>C (p.Glu2329Gln)
c.6982G>C (p.Glu2328Gln)
c.437G>C
n.7068G>C
 ClinVar
19g.38499201G>TCA405667382RYR1c.6985G>T (p.Glu2329Ter)
c.6982G>T (p.Glu2328Ter)
c.437G>T
n.7068G>T
19g.38499202A>CCA405667383RYR1c.6986A>C (p.Glu2329Ala)
c.6983A>C (p.Glu2328Ala)
c.438A>C
n.7069A>C
 gnomAD v4 COSMIC
19g.38499202A>GCA405667385RYR1c.6986A>G (p.Glu2329Gly)
c.6983A>G (p.Glu2328Gly)
c.438A>G
n.7069A>G
19g.38499202A>TCA405667388RYR1c.6986A>T (p.Glu2329Val)
c.6983A>T (p.Glu2328Val)
c.438A>T
n.7069A>T
19g.38499203G>ACA507243219RYR1c.6987G>A (p.Glu2329=)
c.6984G>A (p.Glu2328=)
c.439G>A
n.7070G>A
 ClinVar
19g.38499203G>CCA405667390RYR1c.6987G>C (p.Glu2329Asp)
c.6984G>C (p.Glu2328Asp)
c.439G>C
n.7070G>C
19g.38499203G=CA2335052626RYR1c.6987G= (p.Glu2329=)
c.6984G= (p.Glu2328=)
c.439G=
n.7070G=
19g.38499203G>TCA068957RYR1c.6987G>T (p.Glu2329Asp)
c.6984G>T (p.Glu2328Asp)
c.439G>T
n.7070G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38499204C>ACA405667392RYR1c.6988C>A (p.Arg2330Ser)
c.6985C>A (p.Arg2329Ser)
c.440C>A
n.7071C>A
19g.38499204C=CA2335052627RYR1c.6988C= (p.Arg2330=)
c.6985C= (p.Arg2329=)
c.440C=
n.7071C=
19g.38499204C>GCA405667394RYR1c.6988C>G (p.Arg2330Gly)
c.6985C>G (p.Arg2329Gly)
c.440C>G
n.7071C>G
19g.38499204C>TCA068962RYR1c.6988C>T (p.Arg2330Cys)
c.6985C>T (p.Arg2329Cys)
c.440C>T
n.7071C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499205G>ACA068966RYR1c.6989G>A (p.Arg2330His)
c.6986G>A (p.Arg2329His)
c.441G>A
n.7072G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38499205G>CCA405667395RYR1c.6989G>C (p.Arg2330Pro)
c.6986G>C (p.Arg2329Pro)
c.441G>C
n.7072G>C
19g.38499205G=CA2335052628RYR1c.6989G= (p.Arg2330=)
c.6986G= (p.Arg2329=)
c.441G=
n.7072G=
19g.38499205G>TCA405667398RYR1c.6989G>T (p.Arg2330Leu)
c.6986G>T (p.Arg2329Leu)
c.441G>T
n.7072G>T
19g.38499206C>ACA507243222RYR1c.6990C>A (p.Arg2330=)
c.6987C>A (p.Arg2329=)
c.442C>A
n.7073C>A
19g.38499206C>GCA507243224RYR1c.6990C>G (p.Arg2330=)
c.6987C>G (p.Arg2329=)
c.442C>G
n.7073C>G
19g.38499206C>TCA507243225RYR1c.6990C>T (p.Arg2330=)
c.6987C>T (p.Arg2329=)
c.442C>T
n.7073C>T
19g.38499207T>ACA405667402RYR1c.6991T>A (p.Tyr2331Asn)
c.6988T>A (p.Tyr2330Asn)
c.443T>A
n.7074T>A
19g.38499207T>CCA405667404RYR1c.6991T>C (p.Tyr2331His)
c.6988T>C (p.Tyr2330His)
c.443T>C
n.7074T>C
19g.38499207T>GCA405667401RYR1c.6991T>G (p.Tyr2331Asp)
c.6988T>G (p.Tyr2330Asp)
c.443T>G
n.7074T>G
19g.38499208A>CCA405667410RYR1c.6992A>C (p.Tyr2331Ser)
c.6989A>C (p.Tyr2330Ser)
c.444A>C
n.7075A>C
19g.38499208A>GCA405667405RYR1c.6992A>G (p.Tyr2331Cys)
c.6989A>G (p.Tyr2330Cys)
c.444A>G
n.7075A>G
19g.38499208A>TCA405667408RYR1c.6992A>T (p.Tyr2331Phe)
c.6989A>T (p.Tyr2330Phe)
c.444A>T
n.7075A>T
19g.38499209C>ACA405667411RYR1c.6993C>A (p.Tyr2331Ter)
c.6990C>A (p.Tyr2330Ter)
c.445C>A
n.7076C>A
19g.38499209C>GCA405667412RYR1c.6993C>G (p.Tyr2331Ter)
c.6990C>G (p.Tyr2330Ter)
c.445C>G
n.7076C>G
19g.38499209C>TCA507243227RYR1c.6993C>T (p.Tyr2331=)
c.6990C>T (p.Tyr2330=)
c.445C>T
n.7076C>T
 ClinVar
19g.38499210C>ACA405667414RYR1c.6994C>A (p.Leu2332Met)
c.6991C>A (p.Leu2331Met)
c.446C>A
n.7077C>A
19g.38499210C=CA2335052629RYR1c.6994C= (p.Leu2332=)
c.6991C= (p.Leu2331=)
c.446C=
n.7077C=
19g.38499210C>GCA308107315RYR1c.6994C>G (p.Leu2332Val)
c.6991C>G (p.Leu2331Val)
c.446C>G
n.7077C>G
 dbSNP
19g.38499210C>TCA507243228RYR1c.6994C>T (p.Leu2332=)
c.6991C>T (p.Leu2331=)
c.446C>T
n.7077C>T
19g.38499211T>ACA405667417RYR1c.6995T>A (p.Leu2332Gln)
c.6992T>A (p.Leu2331Gln)
c.447T>A
n.7078T>A
19g.38499211T>CCA405667418RYR1c.6995T>C (p.Leu2332Pro)
c.6992T>C (p.Leu2331Pro)
c.447T>C
n.7078T>C
19g.38499211T>GCA405667419RYR1c.6995T>G (p.Leu2332Arg)
c.6992T>G (p.Leu2331Arg)
c.447T>G
n.7078T>G
 ClinVar
19g.38499212G>ACA507243229RYR1c.6996G>A (p.Leu2332=)
c.6993G>A (p.Leu2331=)
c.448G>A
n.7079G>A
19g.38499212G>CCA507243231RYR1c.6996G>C (p.Leu2332=)
c.6993G>C (p.Leu2331=)
c.448G>C
n.7079G>C
19g.38499212G>TCA507243232RYR1c.6996G>T (p.Leu2332=)
c.6993G>T (p.Leu2331=)
c.448G>T
n.7079G>T
19g.38499213G>ACA405667420RYR1c.6997G>A (p.Asp2333Asn)
c.6994G>A (p.Asp2332Asn)
c.449G>A
n.7080G>A
19g.38499213G>CCA405667421RYR1c.6997G>C (p.Asp2333His)
c.6994G>C (p.Asp2332His)
c.449G>C
n.7080G>C
19g.38499213G>TCA405667423RYR1c.6997G>T (p.Asp2333Tyr)
c.6994G>T (p.Asp2332Tyr)
c.449G>T
n.7080G>T
19g.38499214A>CCA405667427RYR1c.6998A>C (p.Asp2333Ala)
c.6995A>C (p.Asp2332Ala)
c.450A>C
n.7081A>C
19g.38499214A>GCA405667424RYR1c.6998A>G (p.Asp2333Gly)
c.6995A>G (p.Asp2332Gly)
c.450A>G
n.7081A>G
19g.38499214A>TCA405667426RYR1c.6998A>T (p.Asp2333Val)
c.6995A>T (p.Asp2332Val)
c.450A>T
n.7081A>T
19g.38499215C>ACA405667428RYR1c.6999C>A (p.Asp2333Glu)
c.6996C>A (p.Asp2332Glu)
c.451C>A
n.7082C>A
19g.38499215C>GCA405667429RYR1c.6999C>G (p.Asp2333Glu)
c.6996C>G (p.Asp2332Glu)
c.451C>G
n.7082C>G
19g.38499215C>TCA507243236RYR1c.6999C>T (p.Asp2333=)
c.6996C>T (p.Asp2332=)
c.451C>T
n.7082C>T
19g.38499216T>ACA405667431RYR1c.7000T>A (p.Phe2334Ile)
c.6997T>A (p.Phe2333Ile)
c.452T>A
n.7083T>A
19g.38499216T>CCA405667433RYR1c.7000T>C (p.Phe2334Leu)
c.6997T>C (p.Phe2333Leu)
c.452T>C
n.7083T>C
19g.38499216T>GCA405667434RYR1c.7000T>G (p.Phe2334Val)
c.6997T>G (p.Phe2333Val)
c.452T>G
n.7083T>G
19g.38499217T>ACA405667436RYR1c.7001T>A (p.Phe2334Tyr)
c.6998T>A (p.Phe2333Tyr)
c.453T>A
n.7084T>A
 COSMIC
19g.38499217T>CCA405667438RYR1c.7001T>C (p.Phe2334Ser)
c.6998T>C (p.Phe2333Ser)
c.453T>C
n.7084T>C
19g.38499217T>GCA405667440RYR1c.7001T>G (p.Phe2334Cys)
c.6998T>G (p.Phe2333Cys)
c.453T>G
n.7084T>G
19g.38499217_38499218delinsTCCA2335052630RYR1c.7001_7002delinsTC (p.Phe2334=)
c.6998_6999delinsTC (p.Phe2333=)
c.453_454delinsTC
n.7084_7085delinsTC
19g.38499218C>ACA405667441RYR1c.7002C>A (p.Phe2334Leu)
c.6999C>A (p.Phe2333Leu)
c.454C>A
n.7085C>A
19g.38499218C=CA2335052631RYR1c.7002C= (p.Phe2334=)
c.6999C= (p.Phe2333=)
c.454C=
n.7085C=
19g.38499218C>GCA405667442RYR1c.7002C>G (p.Phe2334Leu)
c.6999C>G (p.Phe2333Leu)
c.454C>G
n.7085C>G
19g.38499218C>TCA507243239RYR1c.7002C>T (p.Phe2334=)
c.6999C>T (p.Phe2333=)
c.454C>T
n.7085C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38499219delCA920105699RYR1c.7003del (p.Leu2335CysfsTer?)
c.7000del (p.Leu2334CysfsTer?)
c.455del
n.7086del
 dbSNP
19g.38499219C>ACA405667443RYR1c.7003C>A (p.Leu2335Met)
c.7000C>A (p.Leu2334Met)
c.455C>A
n.7086C>A
19g.38499219C>GCA405667444RYR1c.7003C>G (p.Leu2335Val)
c.7000C>G (p.Leu2334Val)
c.455C>G
n.7086C>G
19g.38499219C>TCA507243240RYR1c.7003C>T (p.Leu2335=)
c.7000C>T (p.Leu2334=)
c.455C>T
n.7086C>T
 gnomAD v4
19g.38499220T>ACA405667446RYR1c.7004T>A (p.Leu2335Gln)
c.7001T>A (p.Leu2334Gln)
c.456T>A
n.7087T>A
19g.38499220T>CCA405667448RYR1c.7004T>C (p.Leu2335Pro)
c.7001T>C (p.Leu2334Pro)
c.456T>C
n.7087T>C
19g.38499220T>GCA405667445RYR1c.7004T>G (p.Leu2335Arg)
c.7001T>G (p.Leu2334Arg)
c.456T>G
n.7087T>G
19g.38499221G>ACA507243241RYR1c.7005G>A (p.Leu2335=)
c.7002G>A (p.Leu2334=)
c.457G>A
n.7088G>A
19g.38499221G>CCA507243243RYR1c.7005G>C (p.Leu2335=)
c.7002G>C (p.Leu2334=)
c.457G>C
n.7088G>C
19g.38499221G>TCA507243242RYR1c.7005G>T (p.Leu2335=)
c.7002G>T (p.Leu2334=)
c.457G>T
n.7088G>T
19g.38499222C>ACA405667449RYR1c.7006C>A (p.Arg2336Ser)
c.7003C>A (p.Arg2335Ser)
c.458C>A
n.7089C>A
19g.38499222C=CA2335052632RYR1c.7006C= (p.Arg2336=)
c.7003C= (p.Arg2335=)
c.458C=
n.7089C=
19g.38499222C>GCA405667451RYR1c.7006C>G (p.Arg2336Gly)
c.7003C>G (p.Arg2335Gly)
c.458C>G
n.7089C>G
 ClinVar
19g.38499222C>TCA405667453RYR1c.7006C>T (p.Arg2336Cys)
c.7003C>T (p.Arg2335Cys)
c.458C>T
n.7089C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.38499223G>ACA024662RYR1c.7007G>A (p.Arg2336His)
c.7004G>A (p.Arg2335His)
c.459G>A
n.7090G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38499223G>CCA405667454RYR1c.7007G>C (p.Arg2336Pro)
c.7004G>C (p.Arg2335Pro)
c.459G>C
n.7090G>C
19g.38499223G=CA2335052633RYR1c.7007G= (p.Arg2336=)
c.7004G= (p.Arg2335=)
c.459G=
n.7090G=
19g.38499223G>TCA405667456RYR1c.7007G>T (p.Arg2336Leu)
c.7004G>T (p.Arg2335Leu)
c.459G>T
n.7090G>T
 ClinVar
19g.38499224C>ACA507243244RYR1c.7008C>A (p.Arg2336=)
c.7005C>A (p.Arg2335=)
c.460C>A
n.7091C>A
19g.38499224C>GCA507243245RYR1c.7008C>G (p.Arg2336=)
c.7005C>G (p.Arg2335=)
c.460C>G
n.7091C>G
19g.38499224C>TCA507243246RYR1c.7008C>T (p.Arg2336=)
c.7005C>T (p.Arg2335=)
c.460C>T
n.7091C>T
 gnomAD v4 COSMIC
19g.38499225T>ACA405667461RYR1c.7009T>A (p.Phe2337Ile)
c.7006T>A (p.Phe2336Ile)
c.461T>A
n.7092T>A
19g.38499225T>CCA405667458RYR1c.7009T>C (p.Phe2337Leu)
c.7006T>C (p.Phe2336Leu)
c.461T>C
n.7092T>C
19g.38499225T>GCA405667459RYR1c.7009T>G (p.Phe2337Val)
c.7006T>G (p.Phe2336Val)
c.461T>G
n.7092T>G
19g.38499226T>ACA405667462RYR1c.7010T>A (p.Phe2337Tyr)
c.7007T>A (p.Phe2336Tyr)
c.462T>A
n.7093T>A
19g.38499226T>CCA405667463RYR1c.7010T>C (p.Phe2337Ser)
c.7007T>C (p.Phe2336Ser)
c.462T>C
n.7093T>C
19g.38499226T>GCA405667465RYR1c.7010T>G (p.Phe2337Cys)
c.7007T>G (p.Phe2336Cys)
c.462T>G
n.7093T>G
19g.38499227T>ACA405667467RYR1c.7011T>A (p.Phe2337Leu)
c.7008T>A (p.Phe2336Leu)
c.463T>A
n.7094T>A
19g.38499227T>CCA507243249RYR1c.7011T>C (p.Phe2337=)
c.7008T>C (p.Phe2336=)
c.463T>C
n.7094T>C
 gnomAD v4
19g.38499227T>GCA405667469RYR1c.7011T>G (p.Phe2337Leu)
c.7008T>G (p.Phe2336Leu)
c.463T>G
n.7094T>G
19g.38499228G>ACA405667470RYR1c.7012G>A (p.Ala2338Thr)
c.7009G>A (p.Ala2337Thr)
c.464G>A
n.7095G>A
 gnomAD v4
19g.38499228G>CCA405667474RYR1c.7012G>C (p.Ala2338Pro)
c.7009G>C (p.Ala2337Pro)
c.464G>C
n.7095G>C
19g.38499228G>TCA405667472RYR1c.7012G>T (p.Ala2338Ser)
c.7009G>T (p.Ala2337Ser)
c.464G>T
n.7095G>T
19g.38499229C>ACA405667475RYR1c.7013C>A (p.Ala2338Asp)
c.7010C>A (p.Ala2337Asp)
c.465C>A
n.7096C>A
 COSMIC
19g.38499229C>GCA405667476RYR1c.7013C>G (p.Ala2338Gly)
c.7010C>G (p.Ala2337Gly)
c.465C>G
n.7096C>G
19g.38499229C>TCA405667478RYR1c.7013C>T (p.Ala2338Val)
c.7010C>T (p.Ala2337Val)
c.465C>T
n.7096C>T
 ClinVar dbSNP
19g.38499230T>ACA507243253RYR1c.7014T>A (p.Ala2338=)
c.7011T>A (p.Ala2337=)
c.466T>A
n.7097T>A
19g.38499230T>CCA507243254RYR1c.7014T>C (p.Ala2338=)
c.7011T>C (p.Ala2337=)
c.466T>C
n.7097T>C
19g.38499230T>GCA507243256RYR1c.7014T>G (p.Ala2338=)
c.7011T>G (p.Ala2337=)
c.466T>G
n.7097T>G
19g.38499231G>ACA405667479RYR1c.7015G>A (p.Val2339Ile)
c.7012G>A (p.Val2338Ile)
c.467G>A
n.7098G>A
 gnomAD v4
19g.38499231G>CCA405667480RYR1c.7015G>C (p.Val2339Leu)
c.7012G>C (p.Val2338Leu)
c.467G>C
n.7098G>C
19g.38499231G=CA2335052634RYR1c.7015G= (p.Val2339=)
c.7012G= (p.Val2338=)
c.467G=
n.7098G=
19g.38499231G>TCA405667482RYR1c.7015G>T (p.Val2339Phe)
c.7012G>T (p.Val2338Phe)
c.467G>T
n.7098G>T
 ClinVar dbSNP
19g.38499232T>ACA405667484RYR1c.7016T>A (p.Val2339Asp)
c.7013T>A (p.Val2338Asp)
c.468T>A
n.7099T>A
19g.38499232T>CCA405667486RYR1c.7016T>C (p.Val2339Ala)
c.7013T>C (p.Val2338Ala)
c.468T>C
n.7099T>C
19g.38499232T>GCA405667487RYR1c.7016T>G (p.Val2339Gly)
c.7013T>G (p.Val2338Gly)
c.468T>G
n.7099T>G
19g.38499233C>ACA507243260RYR1c.7017C>A (p.Val2339=)
c.7014C>A (p.Val2338=)
c.469C>A
n.7100C>A
 dbSNP
19g.38499233C>GCA507243262RYR1c.7017C>G (p.Val2339=)
c.7014C>G (p.Val2338=)
c.469C>G
n.7100C>G
19g.38499233C>TCA507243261RYR1c.7017C>T (p.Val2339=)
c.7014C>T (p.Val2338=)
c.469C>T
n.7100C>T
 ClinVar gnomAD v4 COSMIC
19g.38499234T>ACA405667489RYR1c.7018T>A (p.Phe2340Ile)
c.7015T>A (p.Phe2339Ile)
c.470T>A
n.7101T>A
 ClinVar dbSNP
19g.38499234T>CCA405667490RYR1c.7018T>C (p.Phe2340Leu)
c.7015T>C (p.Phe2339Leu)
c.470T>C
n.7101T>C
 ClinVar dbSNP
19g.38499234T>GCA405667491RYR1c.7018T>G (p.Phe2340Val)
c.7015T>G (p.Phe2339Val)
c.470T>G
n.7101T>G
19g.38499234T=CA2335052635RYR1c.7018T= (p.Phe2340=)
c.7015T= (p.Phe2339=)
c.470T=
n.7101T=
19g.38499235T>ACA405667497RYR1c.7019T>A (p.Phe2340Tyr)
c.7016T>A (p.Phe2339Tyr)
c.471T>A
n.7102T>A
19g.38499235T>CCA405667495RYR1c.7019T>C (p.Phe2340Ser)
c.7016T>C (p.Phe2339Ser)
c.471T>C
n.7102T>C
19g.38499235T>GCA405667493RYR1c.7019T>G (p.Phe2340Cys)
c.7016T>G (p.Phe2339Cys)
c.471T>G
n.7102T>G
19g.38499236C>ACA405667498RYR1c.7020C>A (p.Phe2340Leu)
c.7017C>A (p.Phe2339Leu)
c.472C>A
n.7103C>A
19g.38499236C=CA2335052636RYR1c.7020C= (p.Phe2340=)
c.7017C= (p.Phe2339=)
c.472C=
n.7103C=
19g.38499236C>GCA308107330RYR1c.7020C>G (p.Phe2340Leu)
c.7017C>G (p.Phe2339Leu)
c.472C>G
n.7103C>G
 dbSNP
19g.38499236C>TCA068967RYR1c.7020C>T (p.Phe2340=)
c.7017C>T (p.Phe2339=)
c.472C>T
n.7103C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38499237G>ACA068972RYR1c.7021G>A (p.Val2341Ile)
c.7018G>A (p.Val2340Ile)
c.473G>A
n.7104G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38499237G>CCA405667503RYR1c.7021G>C (p.Val2341Leu)
c.7018G>C (p.Val2340Leu)
c.473G>C
n.7104G>C
19g.38499237G=CA2335052637RYR1c.7021G= (p.Val2341=)
c.7018G= (p.Val2340=)
c.473G=
n.7104G=
19g.38499237G>TCA405667502RYR1c.7021G>T (p.Val2341Phe)
c.7018G>T (p.Val2340Phe)
c.473G>T
n.7104G>T
 gnomAD v4
19g.38499238T>ACA405667504RYR1c.7022T>A (p.Val2341Asp)
c.7019T>A (p.Val2340Asp)
c.474T>A
n.7105T>A
19g.38499238T>CCA405667505RYR1c.7022T>C (p.Val2341Ala)
c.7019T>C (p.Val2340Ala)
c.474T>C
n.7105T>C
19g.38499238T>GCA405667507RYR1c.7022T>G (p.Val2341Gly)
c.7019T>G (p.Val2340Gly)
c.474T>G
n.7105T>G
19g.38499239C>ACA507243265RYR1c.7023C>A (p.Val2341=)
c.7020C>A (p.Val2340=)
c.475C>A
n.7106C>A
19g.38499239C>GCA507243266RYR1c.7023C>G (p.Val2341=)
c.7020C>G (p.Val2340=)
c.475C>G
n.7106C>G
19g.38499239C>TCA082282RYR1c.7023C>T (p.Val2341=)
c.7020C>T (p.Val2340=)
c.475C>T
n.7106C>T
19g.38499240A>CCA405667509RYR1c.7024A>C (p.Asn2342His)
c.7021A>C (p.Asn2341His)
c.476A>C
n.7107A>C
19g.38499240A>GCA405667510RYR1c.7024A>G (p.Asn2342Asp)
c.7021A>G (p.Asn2341Asp)
c.476A>G
n.7107A>G
19g.38499240A>TCA405667512RYR1c.7024A>T (p.Asn2342Tyr)
c.7021A>T (p.Asn2341Tyr)
c.476A>T
n.7107A>T
19g.38499241A=CA2335052638RYR1c.7025A= (p.Asn2342=)
c.7022A= (p.Asn2341=)
c.477A=
n.7108A=
19g.38499241A>CCA405667514RYR1c.7025A>C (p.Asn2342Thr)
c.7022A>C (p.Asn2341Thr)
c.477A>C
n.7108A>C
19g.38499241A>GCA024665RYR1c.7025A>G (p.Asn2342Ser)
c.7022A>G (p.Asn2341Ser)
c.477A>G
n.7108A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499241A>TCA405667516RYR1c.7025A>T (p.Asn2342Ile)
c.7022A>T (p.Asn2341Ile)
c.477A>T
n.7108A>T
19g.38499242C>ACA405667517RYR1c.7026C>A (p.Asn2342Lys)
c.7023C>A (p.Asn2341Lys)
c.478C>A
n.7109C>A
19g.38499242C=CA2335052639RYR1c.7026C= (p.Asn2342=)
c.7023C= (p.Asn2341=)
c.478C=
n.7109C=
19g.38499242C>GCA405667519RYR1c.7026C>G (p.Asn2342Lys)
c.7023C>G (p.Asn2341Lys)
c.478C>G
n.7109C>G
19g.38499242C>TCA068977RYR1c.7026C>T (p.Asn2342=)
c.7023C>T (p.Asn2341=)
c.478C>T
n.7109C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38499243G>ACA069011RYR1c.7027G>A (p.Gly2343Ser)
c.7024G>A (p.Gly2342Ser)
c.479G>A
n.7110G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499243G>CCA405667522RYR1c.7027G>C (p.Gly2343Arg)
c.7024G>C (p.Gly2342Arg)
c.479G>C
n.7110G>C
 ClinVar gnomAD v4
19g.38499243G=CA2335052640RYR1c.7027G= (p.Gly2343=)
c.7024G= (p.Gly2342=)
c.479G=
n.7110G=
19g.38499243G>TCA405667523RYR1c.7027G>T (p.Gly2343Cys)
c.7024G>T (p.Gly2342Cys)
c.479G>T
n.7110G>T
19g.38499244G>ACA405667526RYR1c.7027+1G>A (n.7027+1G>A)
c.7024+1G>A (n.7024+1G>A)
c.479+1G>A
n.7110+1G>A
 ClinVar
19g.38499244G>CCA405667528RYR1c.7027+1G>C (n.7027+1G>C)
c.7024+1G>C (n.7024+1G>C)
c.479+1G>C
n.7110+1G>C
19g.38499244G>TCA405667529RYR1c.7027+1G>T (n.7027+1G>T)
c.7024+1G>T (n.7024+1G>T)
c.479+1G>T
n.7110+1G>T
19g.38499245T>ACA405667531RYR1c.7027+2T>A (n.7027+2T>A)
c.7024+2T>A (n.7024+2T>A)
c.479+2T>A
n.7110+2T>A
19g.38499245T>CCA405667532RYR1c.7027+2T>C (n.7027+2T>C)
c.7024+2T>C (n.7024+2T>C)
c.479+2T>C
n.7110+2T>C
19g.38499245T>GCA405667533RYR1c.7027+2T>G (n.7027+2T>G)
c.7024+2T>G (n.7024+2T>G)
c.479+2T>G
n.7110+2T>G
19g.38499246G>TCA2515534694RYR1c.7027+3G>T (n.7027+3G>T)
c.7024+3G>T (n.7024+3G>T)
c.479+3G>T
n.7110+3G>T
19g.38499247A=CA2335052641RYR1c.7027+4A= (n.7027+4A=)
c.7024+4A= (n.7024+4A=)
c.479+4A=
n.7110+4A=
19g.38499247A>GCA068997RYR1c.7027+4A>G (n.7027+4A>G)
c.7024+4A>G (n.7024+4A>G)
c.479+4A>G
n.7110+4A>G
 dbSNP ExAC gnomAD v2
19g.38499247A>TCA068998RYR1c.7027+4A>T (n.7027+4A>T)
c.7024+4A>T (n.7024+4A>T)
c.479+4A>T
n.7110+4A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499248G>ACA2697556571RYR1c.7027+5G>A (n.7027+5G>A)
c.7024+5G>A (n.7024+5G>A)
c.479+5G>A
n.7110+5G>A
 ClinVar
19g.38499249G>TCA2584899835RYR1c.7027+6G>T (n.7027+6G>T)
c.7024+6G>T (n.7024+6G>T)
c.479+6G>T
n.7110+6G>T
 gnomAD v4
19g.38499251G>ACA069002RYR1c.7027+8G>A (n.7027+8G>A)
c.7024+8G>A (n.7024+8G>A)
c.479+8G>A
n.7110+8G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499251G>CCA2739276773RYR1c.7027+8G>C (n.7027+8G>C)
c.7024+8G>C (n.7024+8G>C)
c.479+8G>C
n.7110+8G>C
 ClinVar
19g.38499251G=CA2335052642RYR1c.7027+8G= (n.7027+8G=)
c.7024+8G= (n.7024+8G=)
c.479+8G=
n.7110+8G=
19g.38499252G>CCA2584899836RYR1c.7027+9G>C (n.7027+9G>C)
c.7024+9G>C (n.7024+9G>C)
c.479+9G>C
n.7110+9G>C
 gnomAD v4
19g.38499252G=CA2335052643RYR1c.7027+9G= (n.7027+9G=)
c.7024+9G= (n.7024+9G=)
c.479+9G=
n.7110+9G=
19g.38499252G>TCA069006RYR1c.7027+9G>T (n.7027+9G>T)
c.7024+9G>T (n.7024+9G>T)
c.479+9G>T
n.7110+9G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499253G>ACA2576771050RYR1c.7027+10G>A (n.7027+10G>A)
c.7024+10G>A (n.7024+10G>A)
c.479+10G>A
n.7110+10G>A
19g.38499253G>TCA2573156308RYR1c.7027+10G>T (n.7027+10G>T)
c.7024+10G>T (n.7024+10G>T)
c.479+10G>T
n.7110+10G>T
 ClinVar dbSNP
19g.38499255G>ACA2584899837RYR1c.7027+12G>A (n.7027+12G>A)
c.7024+12G>A (n.7024+12G>A)
c.479+12G>A
n.7110+12G>A
 gnomAD v4
19g.38499255G>TCA2584899838RYR1c.7027+12G>T (n.7027+12G>T)
c.7024+12G>T (n.7024+12G>T)
c.479+12G>T
n.7110+12G>T
 ClinVar gnomAD v4
19g.38499256T>ACA2584899839RYR1c.7027+13T>A (n.7027+13T>A)
c.7024+13T>A (n.7024+13T>A)
c.479+13T>A
n.7110+13T>A
 gnomAD v4
19g.38499257G>ACA632874621RYR1c.7027+14G>A (n.7027+14G>A)
c.7024+14G>A (n.7024+14G>A)
c.479+14G>A
n.7110+14G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38499257G=CA2335052644RYR1c.7027+14G= (n.7027+14G=)
c.7024+14G= (n.7024+14G=)
c.479+14G=
n.7110+14G=
19g.38499258G>ACA2584899840RYR1c.7027+15G>A (n.7027+15G>A)
c.7024+15G>A (n.7024+15G>A)
c.479+15G>A
n.7110+15G>A
 gnomAD v4
19g.38499258G>CCA2584899841RYR1c.7027+15G>C (n.7027+15G>C)
c.7024+15G>C (n.7024+15G>C)
c.479+15G>C
n.7110+15G>C
 ClinVar gnomAD v4
19g.38499259C=CA2335052646RYR1c.7027+16C= (n.7027+16C=)
c.7024+16C= (n.7024+16C=)
c.479+16C=
n.7110+16C=
19g.38499259C>TCA632874622RYR1c.7027+16C>T (n.7027+16C>T)
c.7024+16C>T (n.7024+16C>T)
c.479+16C>T
n.7110+16C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38499259_38499274delinsCAGTGGCAGAGCGGGACA2335052645RYR1c.7027+16_7027+31delinsCAGTGGCAGAGCGGGA (n.7027+16_7027+31delinsCAGTGGCAGAGCGGGA)
c.7024+16_7024+31delinsCAGTGGCAGAGCGGGA (n.7024+16_7024+31delinsCAGTGGCAGAGCGGGA)
c.479+16_479+31delinsCAGTGGCAGAGCGGGA
n.7110+16_7110+31delinsCAGTGGCAGAGCGGGA
19g.38499260A=CA2335052647RYR1c.7027+17A= (n.7027+17A=)
c.7024+17A= (n.7024+17A=)
c.479+17A=
n.7110+17A=
19g.38499260A>GCA2584899842RYR1c.7027+17A>G (n.7027+17A>G)
c.7024+17A>G (n.7024+17A>G)
c.479+17A>G
n.7110+17A>G
 gnomAD v4
19g.38499260A>TCA995715357RYR1c.7027+17A>T (n.7027+17A>T)
c.7024+17A>T (n.7024+17A>T)
c.479+17A>T
n.7110+17A>T
 dbSNP
19g.38499263_38499277delCA632874623RYR1c.7027+20_7027+34del (n.7027+20_7027+34del)
c.7024+20_7024+34del (n.7024+20_7024+34del)
c.479+20_479+34del
n.7110+20_7110+34del
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38499261G>ACA308107376RYR1c.7027+18G>A (n.7027+18G>A)
c.7024+18G>A (n.7024+18G>A)
c.479+18G>A
n.7110+18G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38499261G=CA2335052648RYR1c.7027+18G= (n.7027+18G=)
c.7024+18G= (n.7024+18G=)
c.479+18G=
n.7110+18G=
19g.38499262T>CCA2584899843RYR1c.7027+19T>C (n.7027+19T>C)
c.7024+19T>C (n.7024+19T>C)
c.479+19T>C
n.7110+19T>C
 gnomAD v4
19g.38499262_38499263delinsTGCA2335052649RYR1c.7027+19_7027+20delinsTG (n.7027+19_7027+20delinsTG)
c.7024+19_7024+20delinsTG (n.7024+19_7024+20delinsTG)
c.479+19_479+20delinsTG
n.7110+19_7110+20delinsTG
19g.38499263G>ACA068981RYR1c.7027+20G>A (n.7027+20G>A)
c.7024+20G>A (n.7024+20G>A)
c.479+20G>A
n.7110+20G>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
19g.38499263G=CA2335052650RYR1c.7027+20G= (n.7027+20G=)
c.7024+20G= (n.7024+20G=)
c.479+20G=
n.7110+20G=
19g.38499264delCA2335052651RYR1c.7027+21del (n.7027+21del)
c.7024+21del (n.7024+21del)
c.479+21del
n.7110+21del
 ClinVar dbSNP
19g.38499265C=CA2335052652RYR1c.7027+22C= (n.7027+22C=)
c.7024+22C= (n.7024+22C=)
c.479+22C=
n.7110+22C=
19g.38499265C>TCA068985RYR1c.7027+22C>T (n.7027+22C>T)
c.7024+22C>T (n.7024+22C>T)
c.479+22C>T
n.7110+22C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38499266A>GCA2576771051RYR1c.7027+23A>G (n.7027+23A>G)
c.7024+23A>G (n.7024+23A>G)
c.479+23A>G
n.7110+23A>G
 gnomAD v4
19g.38499267G>ACA2584899844RYR1c.7027+24G>A (n.7027+24G>A)
c.7024+24G>A (n.7024+24G>A)
c.479+24G>A
n.7110+24G>A
 gnomAD v4
19g.38499268A=CA2335052653RYR1c.7027+25A= (n.7027+25A=)
c.7024+25A= (n.7024+25A=)
c.479+25A=
n.7110+25A=
19g.38499268A>GCA2335052654RYR1c.7027+25A>G (n.7027+25A>G)
c.7024+25A>G (n.7024+25A>G)
c.479+25A>G
n.7110+25A>G
 dbSNP
19g.38499269G>ACA2584899845RYR1c.7027+26G>A (n.7027+26G>A)
c.7024+26G>A (n.7024+26G>A)
c.479+26G>A
n.7110+26G>A
 gnomAD v4
19g.38499269G=CA2335052655RYR1c.7027+26G= (n.7027+26G=)
c.7024+26G= (n.7024+26G=)
c.479+26G=
n.7110+26G=
19g.38499269_38499270insTACA068987RYR1c.7027+26_7027+27insTA (n.7027+26_7027+27insTA)
c.7024+26_7024+27insTA (n.7024+26_7024+27insTA)
c.479+26_479+27insTA
n.7110+26_7110+27insTA
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38499270C>ACA2581382499RYR1c.7027+27C>A (n.7027+27C>A)
c.7024+27C>A (n.7024+27C>A)
c.479+27C>A
n.7110+27C>A
 gnomAD v4
19g.38499270C=CA2335052656RYR1c.7027+27C= (n.7027+27C=)
c.7024+27C= (n.7024+27C=)
c.479+27C=
n.7110+27C=
19g.38499270C>GCA2581382500RYR1c.7027+27C>G (n.7027+27C>G)
c.7024+27C>G (n.7024+27C>G)
c.479+27C>G
n.7110+27C>G
19g.38499270C>TCA024667RYR1c.7027+27C>T (n.7027+27C>T)
c.7024+27C>T (n.7024+27C>T)
c.479+27C>T
n.7110+27C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499271G>ACA068991RYR1c.7027+28G>A (n.7027+28G>A)
c.7024+28G>A (n.7024+28G>A)
c.479+28G>A
n.7110+28G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499271G=CA2335052657RYR1c.7027+28G= (n.7027+28G=)
c.7024+28G= (n.7024+28G=)
c.479+28G=
n.7110+28G=
19g.38499272G>ACA2814346090RYR1c.7027+29G>A (n.7027+29G>A)
c.7024+29G>A (n.7024+29G>A)
c.479+29G>A
n.7110+29G>A
19g.38499273G>ACA632874624RYR1c.7027+30G>A (n.7027+30G>A)
c.7024+30G>A (n.7024+30G>A)
c.479+30G>A
n.7110+30G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38499273G=CA2335052659RYR1c.7027+30G= (n.7027+30G=)
c.7024+30G= (n.7024+30G=)
c.479+30G=
n.7110+30G=
19g.38499273G>TCA2335052658RYR1c.7027+30G>T (n.7027+30G>T)
c.7024+30G>T (n.7024+30G>T)
c.479+30G>T
n.7110+30G>T
 dbSNP
19g.38499276G>ACA068992RYR1c.7027+33G>A (n.7027+33G>A)
c.7024+33G>A (n.7024+33G>A)
c.479+33G>A
n.7110+33G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38499276G=CA2335052660RYR1c.7027+33G= (n.7027+33G=)
c.7024+33G= (n.7024+33G=)
c.479+33G=
n.7110+33G=
19g.38499278A=CA2335052661RYR1c.7027+35A= (n.7027+35A=)
c.7024+35A= (n.7024+35A=)
c.479+35A=
n.7110+35A=
19g.38499278A>GCA068994RYR1c.7027+35A>G (n.7027+35A>G)
c.7024+35A>G (n.7024+35A>G)
c.479+35A>G
n.7110+35A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38499280G>ACA2584899846RYR1c.7027+37G>A (n.7027+37G>A)
c.7024+37G>A (n.7024+37G>A)
c.479+37G>A
n.7110+37G>A
 gnomAD v4
19g.38499282A>TCA2576771052RYR1c.7027+39A>T (n.7027+39A>T)
c.7024+39A>T (n.7024+39A>T)
c.479+39A>T
n.7110+39A>T
19g.38499283G>ACA308107414RYR1c.7027+40G>A (n.7027+40G>A)
c.7024+40G>A (n.7024+40G>A)
c.479+40G>A
n.7110+40G>A
 dbSNP gnomAD v3 gnomAD v4
19g.38499283G=CA2335052662RYR1c.7027+40G= (n.7027+40G=)
c.7024+40G= (n.7024+40G=)
c.479+40G=
n.7110+40G=
19g.38499284T>GCA2335052664RYR1c.7027+41T>G (n.7027+41T>G)
c.7024+41T>G (n.7024+41T>G)
c.479+41T>G
n.7110+41T>G
 dbSNP
19g.38499284T=CA2335052663RYR1c.7027+41T= (n.7027+41T=)
c.7024+41T= (n.7024+41T=)
c.479+41T=
n.7110+41T=
19g.38499286A>CCA2584899847RYR1c.7027+43A>C (n.7027+43A>C)
c.7024+43A>C (n.7024+43A>C)
c.479+43A>C
n.7110+43A>C
 gnomAD v4
19g.38499288delCA2736029628RYR1c.7027+45del (n.7027+45del)
c.7024+45del (n.7024+45del)
c.479+45del
n.7110+45del
 dbSNP
19g.38499289G>ACA2335052666RYR1c.7027+46G>A (n.7027+46G>A)
c.7024+46G>A (n.7024+46G>A)
c.479+46G>A
n.7110+46G>A
 dbSNP
19g.38499289G=CA2335052665RYR1c.7027+46G= (n.7027+46G=)
c.7024+46G= (n.7024+46G=)
c.479+46G=
n.7110+46G=
19g.38499290G>ACA2335052668RYR1c.7027+47G>A (n.7027+47G>A)
c.7024+47G>A (n.7024+47G>A)
c.479+47G>A
n.7110+47G>A
 dbSNP
19g.38499290G=CA2335052667RYR1c.7027+47G= (n.7027+47G=)
c.7024+47G= (n.7024+47G=)
c.479+47G=
n.7110+47G=

Number of alleles fetched