Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38500636C>ACA507243441RYR1c.7354C>A (p.Arg2452=)
c.7351C>A (p.Arg2451=)
c.806C>A
n.7437C>A
19g.38500636C=CA2335053349RYR1c.7354C= (p.Arg2452=)
c.7351C= (p.Arg2451=)
c.806C=
n.7437C=
19g.38500636C>GCA405669966RYR1c.7354C>G (p.Arg2452Gly)
c.7351C>G (p.Arg2451Gly)
c.806C>G
n.7437C>G
19g.38500636C>TCA024770RYR1c.7354C>T (p.Arg2452Trp)
c.7351C>T (p.Arg2451Trp)
c.806C>T
n.7437C>T
 ClinVar dbSNP gnomAD v4
19g.38500637G>ACA024772RYR1c.7355G>A (p.Arg2452Gln)
c.7352G>A (p.Arg2451Gln)
c.807G>A
n.7438G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38500637G>CCA405669968RYR1c.7355G>C (p.Arg2452Pro)
c.7352G>C (p.Arg2451Pro)
c.807G>C
n.7438G>C
 ClinVar dbSNP
19g.38500637G=CA2335053350RYR1c.7355G= (p.Arg2452=)
c.7352G= (p.Arg2451=)
c.807G=
n.7438G=
19g.38500637G>TCA405669969RYR1c.7355G>T (p.Arg2452Leu)
c.7352G>T (p.Arg2451Leu)
c.807G>T
n.7438G>T
19g.38500638G>ACA507243448RYR1c.7356G>A (p.Arg2452=)
c.7353G>A (p.Arg2451=)
c.808G>A
n.7439G>A
 gnomAD v4 COSMIC
19g.38500638G>CCA507243449RYR1c.7356G>C (p.Arg2452=)
c.7353G>C (p.Arg2451=)
c.808G>C
n.7439G>C
 gnomAD v4
19g.38500638G>TCA507243450RYR1c.7356G>T (p.Arg2452=)
c.7353G>T (p.Arg2451=)
c.808G>T
n.7439G>T
 gnomAD v4
19g.38500639A=CA2335053351RYR1c.7357A= (p.Ile2453=)
c.7354A= (p.Ile2452=)
c.809A=
n.7440A=
19g.38500639A>CCA405669970RYR1c.7357A>C (p.Ile2453Leu)
c.7354A>C (p.Ile2452Leu)
c.809A>C
n.7440A>C
19g.38500639A>GCA069563RYR1c.7357A>G (p.Ile2453Val)
c.7354A>G (p.Ile2452Val)
c.809A>G
n.7440A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38500639A>TCA405669971RYR1c.7357A>T (p.Ile2453Phe)
c.7354A>T (p.Ile2452Phe)
c.809A>T
n.7440A>T
19g.38500640T>ACA405669973RYR1c.7358T>A (p.Ile2453Asn)
c.7355T>A (p.Ile2452Asn)
c.810T>A
n.7441T>A
19g.38500640T>CCA024775RYR1c.7358T>C (p.Ile2453Thr)
c.7355T>C (p.Ile2452Thr)
c.810T>C
n.7441T>C
 ClinVar dbSNP
19g.38500640T>GCA405669975RYR1c.7358T>G (p.Ile2453Ser)
c.7355T>G (p.Ile2452Ser)
c.810T>G
n.7441T>G
19g.38500640T=CA2335053352RYR1c.7358T= (p.Ile2453=)
c.7355T= (p.Ile2452=)
c.810T=
n.7441T=
19g.38500641C>ACA507243458RYR1c.7359C>A (p.Ile2453=)
c.7356C>A (p.Ile2452=)
c.811C>A
n.7442C>A
 gnomAD v4
19g.38500641C>GCA405669976RYR1c.7359C>G (p.Ile2453Met)
c.7356C>G (p.Ile2452Met)
c.811C>G
n.7442C>G
19g.38500641C>TCA507243460RYR1c.7359C>T (p.Ile2453=)
c.7356C>T (p.Ile2452=)
c.811C>T
n.7442C>T
19g.38500641_38500643delinsCCGCA2335053353RYR1c.7359_7361delinsCCG (p.Ile2453=)
c.7356_7358delinsCCG (p.Ile2452=)
c.811_813delinsCCG
n.7442_7444delinsCCG
19g.38500642C>ACA405669978RYR1c.7360C>A (p.Arg2454Ser)
c.7357C>A (p.Arg2453Ser)
c.812C>A
n.7443C>A
 ClinVar
19g.38500642C=CA2335053354RYR1c.7360C= (p.Arg2454=)
c.7357C= (p.Arg2453=)
c.812C=
n.7443C=
19g.38500642C>GCA405669980RYR1c.7360C>G (p.Arg2454Gly)
c.7357C>G (p.Arg2453Gly)
c.812C>G
n.7443C>G
19g.38500642C>TCA024778RYR1c.7360C>T (p.Arg2454Cys)
c.7357C>T (p.Arg2453Cys)
c.812C>T
n.7443C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38500645_38500646delCA632874717RYR1c.7363_7364del (p.Ala2455HisfsTer?)
c.7360_7361del (p.Ala2454HisfsTer?)
c.815_816del
n.7446_7447del
 dbSNP gnomAD v2 gnomAD v4
19g.38500643G>ACA024781RYR1c.7361G>A (p.Arg2454His)
c.7358G>A (p.Arg2453His)
c.813G>A
n.7444G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38500643G>CCA405669986RYR1c.7361G>C (p.Arg2454Pro)
c.7358G>C (p.Arg2453Pro)
c.813G>C
n.7444G>C
19g.38500643G=CA2335053355RYR1c.7361G= (p.Arg2454=)
c.7358G= (p.Arg2453=)
c.813G=
n.7444G=
19g.38500643G>TCA405669985RYR1c.7361G>T (p.Arg2454Leu)
c.7358G>T (p.Arg2453Leu)
c.813G>T
n.7444G>T
19g.38500644C>ACA507243464RYR1c.7362C>A (p.Arg2454=)
c.7359C>A (p.Arg2453=)
c.814C>A
n.7445C>A
19g.38500644C=CA2335053356RYR1c.7362C= (p.Arg2454=)
c.7359C= (p.Arg2453=)
c.814C=
n.7445C=
19g.38500644C>GCA507243465RYR1c.7362C>G (p.Arg2454=)
c.7359C>G (p.Arg2453=)
c.814C>G
n.7445C>G
19g.38500644C>TCA069571RYR1c.7362C>T (p.Arg2454=)
c.7359C>T (p.Arg2453=)
c.814C>T
n.7445C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38500645G>ACA069575RYR1c.7363G>A (p.Ala2455Thr)
c.7360G>A (p.Ala2454Thr)
c.815G>A
n.7446G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38500645G>CCA405669990RYR1c.7363G>C (p.Ala2455Pro)
c.7360G>C (p.Ala2454Pro)
c.815G>C
n.7446G>C
19g.38500645G=CA2335053357RYR1c.7363G= (p.Ala2455=)
c.7360G= (p.Ala2454=)
c.815G=
n.7446G=
19g.38500645G>TCA405669993RYR1c.7363G>T (p.Ala2455Ser)
c.7360G>T (p.Ala2454Ser)
c.815G>T
n.7446G>T
19g.38500646C>ACA405669995RYR1c.7364C>A (p.Ala2455Asp)
c.7361C>A (p.Ala2454Asp)
c.816C>A
n.7447C>A
 ClinVar dbSNP
19g.38500646C=CA2335053358RYR1c.7364C= (p.Ala2455=)
c.7361C= (p.Ala2454=)
c.816C=
n.7447C=
19g.38500646C>GCA405669998RYR1c.7364C>G (p.Ala2455Gly)
c.7361C>G (p.Ala2454Gly)
c.816C>G
n.7447C>G
19g.38500646C>TCA405670000RYR1c.7364C>T (p.Ala2455Val)
c.7361C>T (p.Ala2454Val)
c.816C>T
n.7447C>T
 dbSNP
19g.38500647C>ACA507243469RYR1c.7365C>A (p.Ala2455=)
c.7362C>A (p.Ala2454=)
c.817C>A
n.7448C>A
19g.38500647C>GCA507243468RYR1c.7365C>G (p.Ala2455=)
c.7362C>G (p.Ala2454=)
c.817C>G
n.7448C>G
19g.38500647C>TCA082429RYR1c.7365C>T (p.Ala2455=)
c.7362C>T (p.Ala2454=)
c.817C>T
n.7448C>T
19g.38500648A>CCA405670002RYR1c.7366A>C (p.Ile2456Leu)
c.7363A>C (p.Ile2455Leu)
c.818A>C
n.7449A>C
19g.38500648A>GCA405670004RYR1c.7366A>G (p.Ile2456Val)
c.7363A>G (p.Ile2455Val)
c.818A>G
n.7449A>G
 gnomAD v4
19g.38500648A>TCA405670007RYR1c.7366A>T (p.Ile2456Phe)
c.7363A>T (p.Ile2455Phe)
c.818A>T
n.7449A>T

Number of alleles fetched