Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38499921C>ACA069317RYR1c.7228C>A (p.Pro2410Thr)
c.7225C>A (p.Pro2409Thr)
c.680C>A
n.7311C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499921C=CA2335053010RYR1c.7228C= (p.Pro2410=)
c.7225C= (p.Pro2409=)
c.680C=
n.7311C=
19g.38499921C>GCA405669103RYR1c.7228C>G (p.Pro2410Ala)
c.7225C>G (p.Pro2409Ala)
c.680C>G
n.7311C>G
19g.38499921C>TCA082363RYR1c.7228C>T (p.Pro2410Ser)
c.7225C>T (p.Pro2409Ser)
c.680C>T
n.7311C>T
19g.38499922C>ACA405669104RYR1c.7229C>A (p.Pro2410Gln)
c.7226C>A (p.Pro2409Gln)
c.681C>A
n.7312C>A
 gnomAD v4
19g.38499922C=CA2335053011RYR1c.7229C= (p.Pro2410=)
c.7226C= (p.Pro2409=)
c.681C=
n.7312C=
19g.38499922C>GCA405669107RYR1c.7229C>G (p.Pro2410Arg)
c.7226C>G (p.Pro2409Arg)
c.681C>G
n.7312C>G
19g.38499922C>TCA069321RYR1c.7229C>T (p.Pro2410Leu)
c.7226C>T (p.Pro2409Leu)
c.681C>T
n.7312C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499923G>ACA069333RYR1c.7230G>A (p.Pro2410=)
c.7227G>A (p.Pro2409=)
c.682G>A
n.7313G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38499923G>CCA507353706RYR1c.7230G>C (p.Pro2410=)
c.7227G>C (p.Pro2409=)
c.682G>C
n.7313G>C
19g.38499923G=CA2335053012RYR1c.7230G= (p.Pro2410=)
c.7227G= (p.Pro2409=)
c.682G=
n.7313G=
19g.38499923G>TCA507353704RYR1c.7230G>T (p.Pro2410=)
c.7227G>T (p.Pro2409=)
c.682G>T
n.7313G>T
19g.38499924C>ACA082382RYR1c.7231C>A (p.Pro2411Thr)
c.7228C>A (p.Pro2410Thr)
c.683C>A
n.7314C>A
 dbSNP gnomAD v2
19g.38499924C=CA2335053013RYR1c.7231C= (p.Pro2411=)
c.7228C= (p.Pro2410=)
c.683C=
n.7314C=
19g.38499924C>GCA405669117RYR1c.7231C>G (p.Pro2411Ala)
c.7228C>G (p.Pro2410Ala)
c.683C>G
n.7314C>G
19g.38499924C>TCA405669120RYR1c.7231C>T (p.Pro2411Ser)
c.7228C>T (p.Pro2410Ser)
c.683C>T
n.7314C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38499925C>ACA405669124RYR1c.7232C>A (p.Pro2411His)
c.7229C>A (p.Pro2410His)
c.684C>A
n.7315C>A
 dbSNP gnomAD v4
19g.38499925C=CA2335053014RYR1c.7232C= (p.Pro2411=)
c.7229C= (p.Pro2410=)
c.684C=
n.7315C=
19g.38499925C>GCA405669126RYR1c.7232C>G (p.Pro2411Arg)
c.7229C>G (p.Pro2410Arg)
c.684C>G
n.7315C>G
19g.38499925C>TCA082365RYR1c.7232C>T (p.Pro2411Leu)
c.7229C>T (p.Pro2410Leu)
c.684C>T
n.7315C>T
19g.38499926delCA2573156328RYR1c.7233del (p.Glu2412LysfsTer18)
c.7230del (p.Glu2411LysfsTer18)
c.685del
n.7316del
 ClinVar dbSNP
19g.38499926T>ACA507353709RYR1c.7233T>A (p.Pro2411=)
c.7230T>A (p.Pro2410=)
c.685T>A
n.7316T>A
19g.38499926T>CCA507353710RYR1c.7233T>C (p.Pro2411=)
c.7230T>C (p.Pro2410=)
c.685T>C
n.7316T>C
19g.38499926T>GCA507353711RYR1c.7233T>G (p.Pro2411=)
c.7230T>G (p.Pro2410=)
c.685T>G
n.7316T>G
19g.38499927G>ACA405669132RYR1c.7234G>A (p.Glu2412Lys)
c.7231G>A (p.Glu2411Lys)
c.686G>A
n.7317G>A
 dbSNP gnomAD v3 gnomAD v4
19g.38499927G>CCA405669135RYR1c.7234G>C (p.Glu2412Gln)
c.7231G>C (p.Glu2411Gln)
c.686G>C
n.7317G>C
19g.38499927G=CA2335053015RYR1c.7234G= (p.Glu2412=)
c.7231G= (p.Glu2411=)
c.686G=
n.7317G=
19g.38499927G>TCA405669136RYR1c.7234G>T (p.Glu2412Ter)
c.7231G>T (p.Glu2411Ter)
c.686G>T
n.7317G>T
19g.38499928A>CCA405669137RYR1c.7235A>C (p.Glu2412Ala)
c.7232A>C (p.Glu2411Ala)
c.687A>C
n.7318A>C
19g.38499928A>GCA405669138RYR1c.7235A>G (p.Glu2412Gly)
c.7232A>G (p.Glu2411Gly)
c.687A>G
n.7318A>G
19g.38499928A>TCA405669139RYR1c.7235A>T (p.Glu2412Val)
c.7232A>T (p.Glu2411Val)
c.687A>T
n.7318A>T
19g.38499929A>CCA405669140RYR1c.7236A>C (p.Glu2412Asp)
c.7233A>C (p.Glu2411Asp)
c.688A>C
n.7319A>C
19g.38499929A>GCA507353716RYR1c.7236A>G (p.Glu2412=)
c.7233A>G (p.Glu2411=)
c.688A>G
n.7319A>G
19g.38499929A>TCA405669141RYR1c.7236A>T (p.Glu2412Asp)
c.7233A>T (p.Glu2411Asp)
c.688A>T
n.7319A>T
 gnomAD v4
19g.38499929_38499930delinsGCCA082368RYR1c.7236_7237delinsGC (p.Glu2413Gln)
c.7233_7234delinsGC (p.Glu2412Gln)
c.688_689delinsGC
n.7319_7320delinsGC
19g.38499930G>ACA405669144RYR1c.7237G>A (p.Glu2413Lys)
c.7234G>A (p.Glu2412Lys)
c.689G>A
n.7320G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38499930G>CCA405669145RYR1c.7237G>C (p.Glu2413Gln)
c.7234G>C (p.Glu2412Gln)
c.689G>C
n.7320G>C
19g.38499930G=CA2335053016RYR1c.7237G= (p.Glu2413=)
c.7234G= (p.Glu2412=)
c.689G=
n.7320G=
19g.38499930G>TCA405669155RYR1c.7237G>T (p.Glu2413Ter)
c.7234G>T (p.Glu2412Ter)
c.689G>T
n.7320G>T
 ClinVar dbSNP
19g.38499931A>CCA405669156RYR1c.7238A>C (p.Glu2413Ala)
c.7235A>C (p.Glu2412Ala)
c.690A>C
n.7321A>C
 gnomAD v4
19g.38499931A>GCA405669157RYR1c.7238A>G (p.Glu2413Gly)
c.7235A>G (p.Glu2412Gly)
c.690A>G
n.7321A>G
19g.38499931A>TCA405669158RYR1c.7238A>T (p.Glu2413Val)
c.7235A>T (p.Glu2412Val)
c.690A>T
n.7321A>T
19g.38499932A>CCA405669159RYR1c.7239A>C (p.Glu2413Asp)
c.7236A>C (p.Glu2412Asp)
c.691A>C
n.7322A>C
 gnomAD v4
19g.38499932A>GCA507353718RYR1c.7239A>G (p.Glu2413=)
c.7236A>G (p.Glu2412=)
c.691A>G
n.7322A>G
19g.38499932A>TCA405669160RYR1c.7239A>T (p.Glu2413Asp)
c.7236A>T (p.Glu2412Asp)
c.691A>T
n.7322A>T
19g.38499933A>CCA405669163RYR1c.7240A>C (p.Asn2414His)
c.7237A>C (p.Asn2413His)
c.692A>C
n.7323A>C
 gnomAD v4
19g.38499933A>GCA405669165RYR1c.7240A>G (p.Asn2414Asp)
c.7237A>G (p.Asn2413Asp)
c.692A>G
n.7323A>G
19g.38499933A>TCA405669170RYR1c.7240A>T (p.Asn2414Tyr)
c.7237A>T (p.Asn2413Tyr)
c.692A>T
n.7323A>T
19g.38499934A>CCA405669177RYR1c.7241A>C (p.Asn2414Thr)
c.7238A>C (p.Asn2413Thr)
c.693A>C
n.7324A>C
19g.38499934A>GCA082371RYR1c.7241A>G (p.Asn2414Ser)
c.7238A>G (p.Asn2413Ser)
c.693A>G
n.7324A>G
 COSMIC
19g.38499934A>TCA405669174RYR1c.7241A>T (p.Asn2414Ile)
c.7238A>T (p.Asn2413Ile)
c.693A>T
n.7324A>T
19g.38499935C>ACA405669180RYR1c.7242C>A (p.Asn2414Lys)
c.7239C>A (p.Asn2413Lys)
c.694C>A
n.7325C>A
19g.38499935C=CA2335053017RYR1c.7242C= (p.Asn2414=)
c.7239C= (p.Asn2413=)
c.694C=
n.7325C=
19g.38499935C>GCA405669182RYR1c.7242C>G (p.Asn2414Lys)
c.7239C>G (p.Asn2413Lys)
c.694C>G
n.7325C>G
19g.38499935C>TCA507353721RYR1c.7242C>T (p.Asn2414=)
c.7239C>T (p.Asn2413=)
c.694C>T
n.7325C>T
 dbSNP
19g.38499936C>ACA507353722RYR1c.7243C>A (p.Arg2415=)
c.7240C>A (p.Arg2414=)
c.695C>A
n.7326C>A
19g.38499936C=CA2335053018RYR1c.7243C= (p.Arg2415=)
c.7240C= (p.Arg2414=)
c.695C=
n.7326C=
19g.38499936C>GCA069335RYR1c.7243C>G (p.Arg2415Gly)
c.7240C>G (p.Arg2414Gly)
c.695C>G
n.7326C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499936C>TCA069339RYR1c.7243C>T (p.Arg2415Trp)
c.7240C>T (p.Arg2414Trp)
c.695C>T
n.7326C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499936_38499937delinsCGCA2335053019RYR1c.7243_7244delinsCG (p.Arg2415=)
c.7240_7241delinsCG (p.Arg2414=)
c.695_696delinsCG
n.7326_7327delinsCG
19g.38499937G>ACA069343RYR1c.7244G>A (p.Arg2415Gln)
c.7241G>A (p.Arg2414Gln)
c.696G>A
n.7327G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38499937G>CCA405669198RYR1c.7244G>C (p.Arg2415Pro)
c.7241G>C (p.Arg2414Pro)
c.696G>C
n.7327G>C
19g.38499937G=CA2335053020RYR1c.7244G= (p.Arg2415=)
c.7241G= (p.Arg2414=)
c.696G=
n.7327G=
19g.38499937G>TCA405669201RYR1c.7244G>T (p.Arg2415Leu)
c.7241G>T (p.Arg2414Leu)
c.696G>T
n.7327G>T
19g.38499939delCA633066135RYR1c.7246del (p.Val2416CysfsTer14)
c.7243del (p.Val2415CysfsTer14)
c.698del
n.7329del
 dbSNP gnomAD v2 gnomAD v4
19g.38499938G>ACA082372RYR1c.7245G>A (p.Arg2415=)
c.7242G>A (p.Arg2414=)
c.697G>A
n.7328G>A
 gnomAD v4
19g.38499938G>CCA507353723RYR1c.7245G>C (p.Arg2415=)
c.7242G>C (p.Arg2414=)
c.697G>C
n.7328G>C
19g.38499938G>TCA507353724RYR1c.7245G>T (p.Arg2415=)
c.7242G>T (p.Arg2414=)
c.697G>T
n.7328G>T
19g.38499939G>ACA405669205RYR1c.7246G>A (p.Val2416Met)
c.7243G>A (p.Val2415Met)
c.698G>A
n.7329G>A
 ClinVar
19g.38499939G>CCA405669217RYR1c.7246G>C (p.Val2416Leu)
c.7243G>C (p.Val2415Leu)
c.698G>C
n.7329G>C
19g.38499939G>TCA405669219RYR1c.7246G>T (p.Val2416Leu)
c.7243G>T (p.Val2415Leu)
c.698G>T
n.7329G>T
19g.38499940T>ACA405669220RYR1c.7247T>A (p.Val2416Glu)
c.7244T>A (p.Val2415Glu)
c.699T>A
n.7330T>A
19g.38499940T>CCA405669221RYR1c.7247T>C (p.Val2416Ala)
c.7244T>C (p.Val2415Ala)
c.699T>C
n.7330T>C
19g.38499940T>GCA405669222RYR1c.7247T>G (p.Val2416Gly)
c.7244T>G (p.Val2415Gly)
c.699T>G
n.7330T>G
19g.38499941G>ACA507353725RYR1c.7248G>A (p.Val2416=)
c.7245G>A (p.Val2415=)
c.700G>A
n.7331G>A
 gnomAD v4
19g.38499941G>CCA507353726RYR1c.7248G>C (p.Val2416=)
c.7245G>C (p.Val2415=)
c.700G>C
n.7331G>C
19g.38499941G>TCA507353727RYR1c.7248G>T (p.Val2416=)
c.7245G>T (p.Val2415=)
c.700G>T
n.7331G>T
19g.38499942C>ACA405669227RYR1c.7249C>A (p.His2417Asn)
c.7246C>A (p.His2416Asn)
c.701C>A
n.7332C>A
19g.38499942C>GCA405669223RYR1c.7249C>G (p.His2417Asp)
c.7246C>G (p.His2416Asp)
c.701C>G
n.7332C>G
19g.38499942C>TCA405669224RYR1c.7249C>T (p.His2417Tyr)
c.7246C>T (p.His2416Tyr)
c.701C>T
n.7332C>T
19g.38499943A>CCA405669239RYR1c.7250A>C (p.His2417Pro)
c.7247A>C (p.His2416Pro)
c.702A>C
n.7333A>C
19g.38499943A>GCA405669241RYR1c.7250A>G (p.His2417Arg)
c.7247A>G (p.His2416Arg)
c.702A>G
n.7333A>G
 COSMIC
19g.38499943A>TCA405669244RYR1c.7250A>T (p.His2417Leu)
c.7247A>T (p.His2416Leu)
c.702A>T
n.7333A>T
19g.38499944C>ACA308109782RYR1c.7251C>A (p.His2417Gln)
c.7248C>A (p.His2416Gln)
c.703C>A
n.7334C>A
 dbSNP gnomAD v4
19g.38499944C=CA2335053021RYR1c.7251C= (p.His2417=)
c.7248C= (p.His2416=)
c.703C=
n.7334C=
19g.38499944C>GCA405669252RYR1c.7251C>G (p.His2417Gln)
c.7248C>G (p.His2416Gln)
c.703C>G
n.7334C>G
19g.38499944C>TCA507353728RYR1c.7251C>T (p.His2417=)
c.7248C>T (p.His2416=)
c.703C>T
n.7334C>T
 dbSNP gnomAD v4
19g.38499945C>ACA405669255RYR1c.7252C>A (p.Leu2418Met)
c.7249C>A (p.Leu2417Met)
c.704C>A
n.7335C>A
19g.38499945C=CA2335053022RYR1c.7252C= (p.Leu2418=)
c.7249C= (p.Leu2417=)
c.704C=
n.7335C=
19g.38499945C>GCA405669256RYR1c.7252C>G (p.Leu2418Val)
c.7249C>G (p.Leu2417Val)
c.704C>G
n.7335C>G
 ClinVar dbSNP
19g.38499945C>TCA069367RYR1c.7252C>T (p.Leu2418=)
c.7249C>T (p.Leu2417=)
c.704C>T
n.7335C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38499946T>ACA405669262RYR1c.7253T>A (p.Leu2418Gln)
c.7250T>A (p.Leu2417Gln)
c.705T>A
n.7336T>A
19g.38499946T>CCA069388RYR1c.7253T>C (p.Leu2418Pro)
c.7250T>C (p.Leu2417Pro)
c.705T>C
n.7336T>C
 dbSNP ExAC gnomAD v4
19g.38499946T>GCA405669265RYR1c.7253T>G (p.Leu2418Arg)
c.7250T>G (p.Leu2417Arg)
c.705T>G
n.7336T>G
19g.38499946T=CA2335053023RYR1c.7253T= (p.Leu2418=)
c.7250T= (p.Leu2417=)
c.705T=
n.7336T=
19g.38499947G>ACA082375RYR1c.7254G>A (p.Leu2418=)
c.7251G>A (p.Leu2417=)
c.706G>A
n.7337G>A
19g.38499947G>CCA082376RYR1c.7254G>C (p.Leu2418=)
c.7251G>C (p.Leu2417=)
c.706G>C
n.7337G>C
19g.38499947G=CA2335053024RYR1c.7254G= (p.Leu2418=)
c.7251G= (p.Leu2417=)
c.706G=
n.7337G=
19g.38499947G>TCA507353731RYR1c.7254G>T (p.Leu2418=)
c.7251G>T (p.Leu2417=)
c.706G>T
n.7337G>T
 dbSNP
19g.38499948G>ACA405669273RYR1c.7255G>A (p.Gly2419Arg)
c.7252G>A (p.Gly2418Arg)
c.707G>A
n.7338G>A
19g.38499948G>CCA405669270RYR1c.7255G>C (p.Gly2419Arg)
c.7252G>C (p.Gly2418Arg)
c.707G>C
n.7338G>C
19g.38499948G>TCA405669268RYR1c.7255G>T (p.Gly2419Ter)
c.7252G>T (p.Gly2418Ter)
c.707G>T
n.7338G>T
 COSMIC
19g.38499949G>ACA308109784RYR1c.7256G>A (p.Gly2419Glu)
c.7253G>A (p.Gly2418Glu)
c.708G>A
n.7339G>A
 dbSNP
19g.38499949G>CCA405669277RYR1c.7256G>C (p.Gly2419Ala)
c.7253G>C (p.Gly2418Ala)
c.708G>C
n.7339G>C
19g.38499949G=CA2335053025RYR1c.7256G= (p.Gly2419=)
c.7253G= (p.Gly2418=)
c.708G=
n.7339G=
19g.38499949G>TCA405669276RYR1c.7256G>T (p.Gly2419Val)
c.7253G>T (p.Gly2418Val)
c.708G>T
n.7339G>T
19g.38499950A>CCA507353735RYR1c.7257A>C (p.Gly2419=)
c.7254A>C (p.Gly2418=)
c.709A>C
n.7340A>C
19g.38499950A>GCA507353736RYR1c.7257A>G (p.Gly2419=)
c.7254A>G (p.Gly2418=)
c.709A>G
n.7340A>G
19g.38499950A>TCA507353737RYR1c.7257A>T (p.Gly2419=)
c.7254A>T (p.Gly2418=)
c.709A>T
n.7340A>T
19g.38499951C>ACA405669291RYR1c.7258C>A (p.His2420Asn)
c.7255C>A (p.His2419Asn)
c.710C>A
n.7341C>A
 COSMIC
19g.38499951C>GCA405669297RYR1c.7258C>G (p.His2420Asp)
c.7255C>G (p.His2419Asp)
c.710C>G
n.7341C>G
19g.38499951C>TCA405669293RYR1c.7258C>T (p.His2420Tyr)
c.7255C>T (p.His2419Tyr)
c.710C>T
n.7341C>T
19g.38499952A=CA2335053026RYR1c.7259A= (p.His2420=)
c.7256A= (p.His2419=)
c.711A=
n.7342A=
19g.38499952A>CCA405669301RYR1c.7259A>C (p.His2420Pro)
c.7256A>C (p.His2419Pro)
c.711A>C
n.7342A>C
19g.38499952A>GCA405669307RYR1c.7259A>G (p.His2420Arg)
c.7256A>G (p.His2419Arg)
c.711A>G
n.7342A>G
19g.38499952A>TCA405669305RYR1c.7259A>T (p.His2420Leu)
c.7256A>T (p.His2419Leu)
c.711A>T
n.7342A>T
 dbSNP
19g.38499953C>ACA405669308RYR1c.7260C>A (p.His2420Gln)
c.7257C>A (p.His2419Gln)
c.712C>A
n.7343C>A
19g.38499953C=CA2335053027RYR1c.7260C= (p.His2420=)
c.7257C= (p.His2419=)
c.712C=
n.7343C=
19g.38499953C>GCA405669314RYR1c.7260C>G (p.His2420Gln)
c.7257C>G (p.His2419Gln)
c.712C>G
n.7343C>G
19g.38499953C>TCA024725RYR1c.7260C>T (p.His2420=)
c.7257C>T (p.His2419=)
c.712C>T
n.7343C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499954G>ACA069410RYR1c.7261G>A (p.Ala2421Thr)
c.7258G>A (p.Ala2420Thr)
c.713G>A
n.7344G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499954G>CCA024730RYR1c.7261G>C (p.Ala2421Pro)
c.7258G>C (p.Ala2420Pro)
c.713G>C
n.7344G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38499954G=CA2335053028RYR1c.7261G= (p.Ala2421=)
c.7258G= (p.Ala2420=)
c.713G=
n.7344G=
19g.38499954G>TCA069413RYR1c.7261G>T (p.Ala2421Ser)
c.7258G>T (p.Ala2420Ser)
c.713G>T
n.7344G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499955C>ACA405669322RYR1c.7262C>A (p.Ala2421Asp)
c.7259C>A (p.Ala2420Asp)
c.714C>A
n.7345C>A
19g.38499955C>GCA405669324RYR1c.7262C>G (p.Ala2421Gly)
c.7259C>G (p.Ala2420Gly)
c.714C>G
n.7345C>G
19g.38499955C>TCA405669327RYR1c.7262C>T (p.Ala2421Val)
c.7259C>T (p.Ala2420Val)
c.714C>T
n.7345C>T
19g.38499955_38499956insGATCA2584900090RYR1c.7262_7263insGAT (p.Ala2421_Ile2422insIle)
c.7259_7260insGAT (p.Ala2420_Ile2421insIle)
c.714_715insGAT
n.7345_7346insGAT
 gnomAD v4
19g.38499956C>ACA507353744RYR1c.7263C>A (p.Ala2421=)
c.7260C>A (p.Ala2420=)
c.715C>A
n.7346C>A
19g.38499956C>GCA507353745RYR1c.7263C>G (p.Ala2421=)
c.7260C>G (p.Ala2420=)
c.715C>G
n.7346C>G
19g.38499956C>TCA082388RYR1c.7263C>T (p.Ala2421=)
c.7260C>T (p.Ala2420=)
c.715C>T
n.7346C>T
19g.38499957A=CA2335053029RYR1c.7264A= (p.Ile2422=)
c.7261A= (p.Ile2421=)
c.716A=
n.7347A=
19g.38499957A>CCA405669330RYR1c.7264A>C (p.Ile2422Leu)
c.7261A>C (p.Ile2421Leu)
c.716A>C
n.7347A>C
19g.38499957A>GCA069434RYR1c.7264A>G (p.Ile2422Val)
c.7261A>G (p.Ile2421Val)
c.716A>G
n.7347A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499957A>TCA405669334RYR1c.7264A>T (p.Ile2422Phe)
c.7261A>T (p.Ile2421Phe)
c.716A>T
n.7347A>T
19g.38499958T>ACA405669337RYR1c.7265T>A (p.Ile2422Asn)
c.7262T>A (p.Ile2421Asn)
c.717T>A
n.7348T>A
19g.38499958T>CCA405669341RYR1c.7265T>C (p.Ile2422Thr)
c.7262T>C (p.Ile2421Thr)
c.717T>C
n.7348T>C
 dbSNP
19g.38499958T>GCA405669344RYR1c.7265T>G (p.Ile2422Ser)
c.7262T>G (p.Ile2421Ser)
c.717T>G
n.7348T>G
19g.38499958T=CA2335053030RYR1c.7265T= (p.Ile2422=)
c.7262T= (p.Ile2421=)
c.717T=
n.7348T=
19g.38499958_38499959insGTCCTTCTATGCCGCCA2584900091RYR1c.7265_7266insGTCCTTCTATGCCGC (p.Ile2422delinsMetSerPheTyrAlaAla)
c.7262_7263insGTCCTTCTATGCCGC (p.Ile2421delinsMetSerPheTyrAlaAla)
c.717_718insGTCCTTCTATGCCGC
n.7348_7349insGTCCTTCTATGCCGC
 gnomAD v4
19g.38499959C>ACA507353747RYR1c.7266C>A (p.Ile2422=)
c.7263C>A (p.Ile2421=)
c.718C>A
n.7349C>A
19g.38499959C>GCA405669347RYR1c.7266C>G (p.Ile2422Met)
c.7263C>G (p.Ile2421Met)
c.718C>G
n.7349C>G
19g.38499959C>TCA507353748RYR1c.7266C>T (p.Ile2422=)
c.7263C>T (p.Ile2421=)
c.718C>T
n.7349C>T
19g.38499960A>CCA405669353RYR1c.7267A>C (p.Met2423Leu)
c.7264A>C (p.Met2422Leu)
c.719A>C
n.7350A>C
19g.38499960A>GCA082391RYR1c.7267A>G (p.Met2423Val)
c.7264A>G (p.Met2422Val)
c.719A>G
n.7350A>G
 gnomAD v4
19g.38499960A>TCA405669350RYR1c.7267A>T (p.Met2423Leu)
c.7264A>T (p.Met2422Leu)
c.719A>T
n.7350A>T
19g.38499961T>ACA024732RYR1c.7268T>A (p.Met2423Lys)
c.7265T>A (p.Met2422Lys)
c.720T>A
n.7351T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499961T>CCA405669357RYR1c.7268T>C (p.Met2423Thr)
c.7265T>C (p.Met2422Thr)
c.720T>C
n.7351T>C
 gnomAD v4
19g.38499961T>GCA405669358RYR1c.7268T>G (p.Met2423Arg)
c.7265T>G (p.Met2422Arg)
c.720T>G
n.7351T>G
19g.38499961T=CA2335053031RYR1c.7268T= (p.Met2423=)
c.7265T= (p.Met2422=)
c.720T=
n.7351T=
19g.38499962G>ACA405669361RYR1c.7269G>A (p.Met2423Ile)
c.7266G>A (p.Met2422Ile)
c.721G>A
n.7352G>A
19g.38499962G>CCA405669363RYR1c.7269G>C (p.Met2423Ile)
c.7266G>C (p.Met2422Ile)
c.721G>C
n.7352G>C
19g.38499962G>TCA405669364RYR1c.7269G>T (p.Met2423Ile)
c.7266G>T (p.Met2422Ile)
c.721G>T
n.7352G>T
19g.38499963T>ACA405669366RYR1c.7270T>A (p.Ser2424Thr)
c.7267T>A (p.Ser2423Thr)
c.722T>A
n.7353T>A
19g.38499963T>CCA405669367RYR1c.7270T>C (p.Ser2424Pro)
c.7267T>C (p.Ser2423Pro)
c.722T>C
n.7353T>C
19g.38499963T>GCA405669369RYR1c.7270T>G (p.Ser2424Ala)
c.7267T>G (p.Ser2423Ala)
c.722T>G
n.7353T>G
19g.38499964C>ACA405669373RYR1c.7271C>A (p.Ser2424Tyr)
c.7268C>A (p.Ser2423Tyr)
c.723C>A
n.7354C>A
19g.38499964C>GCA405669374RYR1c.7271C>G (p.Ser2424Cys)
c.7268C>G (p.Ser2423Cys)
c.723C>G
n.7354C>G
19g.38499964C>TCA405669377RYR1c.7271C>T (p.Ser2424Phe)
c.7268C>T (p.Ser2423Phe)
c.723C>T
n.7354C>T
19g.38499964_38499967delinsCCTTCA2335053032RYR1c.7271_7274delinsCCTT (p.Ser2424=)
c.7268_7271delinsCCTT (p.Ser2423=)
c.723_726delinsCCTT
n.7354_7357delinsCCTT
19g.38499965C>ACA507353753RYR1c.7272C>A (p.Ser2424=)
c.7269C>A (p.Ser2423=)
c.724C>A
n.7355C>A
19g.38499965C>GCA507353755RYR1c.7272C>G (p.Ser2424=)
c.7269C>G (p.Ser2423=)
c.724C>G
n.7355C>G
19g.38499965C>TCA507353754RYR1c.7272C>T (p.Ser2424=)
c.7269C>T (p.Ser2423=)
c.724C>T
n.7355C>T
19g.38499967_38499969delCA882051645RYR1c.7274_7276del (p.Phe2425del)
c.7271_7273del (p.Phe2424del)
c.726_728del
n.7357_7359del
 dbSNP gnomAD v3 gnomAD v4
19g.38499966T>ACA405669382RYR1c.7273T>A (p.Phe2425Ile)
c.7270T>A (p.Phe2424Ile)
c.725T>A
n.7356T>A
19g.38499966T>CCA405669388RYR1c.7273T>C (p.Phe2425Leu)
c.7270T>C (p.Phe2424Leu)
c.725T>C
n.7356T>C
19g.38499966T>GCA405669384RYR1c.7273T>G (p.Phe2425Val)
c.7270T>G (p.Phe2424Val)
c.725T>G
n.7356T>G
19g.38499967T>ACA405669390RYR1c.7274T>A (p.Phe2425Tyr)
c.7271T>A (p.Phe2424Tyr)
c.726T>A
n.7357T>A
19g.38499967T>CCA405669395RYR1c.7274T>C (p.Phe2425Ser)
c.7271T>C (p.Phe2424Ser)
c.726T>C
n.7357T>C
19g.38499967T>GCA405669396RYR1c.7274T>G (p.Phe2425Cys)
c.7271T>G (p.Phe2424Cys)
c.726T>G
n.7357T>G
19g.38499968C>ACA405669398RYR1c.7275C>A (p.Phe2425Leu)
c.7272C>A (p.Phe2424Leu)
c.727C>A
n.7358C>A
19g.38499968C>GCA405669399RYR1c.7275C>G (p.Phe2425Leu)
c.7272C>G (p.Phe2424Leu)
c.727C>G
n.7358C>G
19g.38499968C>TCA507353759RYR1c.7275C>T (p.Phe2425=)
c.7272C>T (p.Phe2424=)
c.727C>T
n.7358C>T
 ClinVar gnomAD v4
19g.38499969T>ACA405669403RYR1c.7276T>A (p.Tyr2426Asn)
c.7273T>A (p.Tyr2425Asn)
c.728T>A
n.7359T>A
19g.38499969T>CCA405669407RYR1c.7276T>C (p.Tyr2426His)
c.7273T>C (p.Tyr2425His)
c.728T>C
n.7359T>C
19g.38499969T>GCA405669410RYR1c.7276T>G (p.Tyr2426Asp)
c.7273T>G (p.Tyr2425Asp)
c.728T>G
n.7359T>G
19g.38499970delCA2814346208RYR1c.7277del (p.Tyr2426LeufsTer4)
c.7274del (p.Tyr2425LeufsTer4)
c.729del
n.7360del
19g.38499970A=CA2335053033RYR1c.7277A= (p.Tyr2426=)
c.7274A= (p.Tyr2425=)
c.729A=
n.7360A=
19g.38499970A>CCA405669413RYR1c.7277A>C (p.Tyr2426Ser)
c.7274A>C (p.Tyr2425Ser)
c.729A>C
n.7360A>C
 gnomAD v4
19g.38499970A>GCA405669417RYR1c.7277A>G (p.Tyr2426Cys)
c.7274A>G (p.Tyr2425Cys)
c.729A>G
n.7360A>G
 dbSNP gnomAD v2 gnomAD v4
19g.38499970A>TCA405669419RYR1c.7277A>T (p.Tyr2426Phe)
c.7274A>T (p.Tyr2425Phe)
c.729A>T
n.7360A>T
19g.38499971T>ACA405669421RYR1c.7278T>A (p.Tyr2426Ter)
c.7275T>A (p.Tyr2425Ter)
c.730T>A
n.7361T>A
19g.38499971T>CCA507353761RYR1c.7278T>C (p.Tyr2426=)
c.7275T>C (p.Tyr2425=)
c.730T>C
n.7361T>C
 ClinVar dbSNP gnomAD v4
19g.38499971T>GCA405669422RYR1c.7278T>G (p.Tyr2426Ter)
c.7275T>G (p.Tyr2425Ter)
c.730T>G
n.7361T>G
19g.38499972G>ACA405669427RYR1c.7279G>A (p.Ala2427Thr)
c.7276G>A (p.Ala2426Thr)
c.731G>A
n.7362G>A
19g.38499972G>CCA405669432RYR1c.7279G>C (p.Ala2427Pro)
c.7276G>C (p.Ala2426Pro)
c.731G>C
n.7362G>C
19g.38499972G>TCA405669428RYR1c.7279G>T (p.Ala2427Ser)
c.7276G>T (p.Ala2426Ser)
c.731G>T
n.7362G>T
19g.38499973C>ACA405669437RYR1c.7280C>A (p.Ala2427Asp)
c.7277C>A (p.Ala2426Asp)
c.732C>A
n.7363C>A
19g.38499973C>GCA405669441RYR1c.7280C>G (p.Ala2427Gly)
c.7277C>G (p.Ala2426Gly)
c.732C>G
n.7363C>G
19g.38499973C>TCA405669443RYR1c.7280C>T (p.Ala2427Val)
c.7277C>T (p.Ala2426Val)
c.732C>T
n.7363C>T
 gnomAD v4 COSMIC
19g.38499974C>ACA507353765RYR1c.7281C>A (p.Ala2427=)
c.7278C>A (p.Ala2426=)
c.733C>A
n.7364C>A
19g.38499974C=CA2335053034RYR1c.7281C= (p.Ala2427=)
c.7278C= (p.Ala2426=)
c.733C=
n.7364C=
19g.38499974C>GCA507353766RYR1c.7281C>G (p.Ala2427=)
c.7278C>G (p.Ala2426=)
c.733C>G
n.7364C>G
19g.38499974C>TCA024735RYR1c.7281C>T (p.Ala2427=)
c.7278C>T (p.Ala2426=)
c.733C>T
n.7364C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499975G>ACA024738RYR1c.7282G>A (p.Ala2428Thr)
c.7279G>A (p.Ala2427Thr)
c.734G>A
n.7365G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38499975G>CCA405669465RYR1c.7282G>C (p.Ala2428Pro)
c.7279G>C (p.Ala2427Pro)
c.734G>C
n.7365G>C
19g.38499975G=CA2335053035RYR1c.7282G= (p.Ala2428=)
c.7279G= (p.Ala2427=)
c.734G=
n.7365G=
19g.38499975G>TCA405669469RYR1c.7282G>T (p.Ala2428Ser)
c.7279G>T (p.Ala2427Ser)
c.734G>T
n.7365G>T
 dbSNP
19g.38499976C>ACA405669470RYR1c.7283C>A (p.Ala2428Asp)
c.7280C>A (p.Ala2427Asp)
c.735C>A
n.7366C>A
19g.38499976C>GCA405669472RYR1c.7283C>G (p.Ala2428Gly)
c.7280C>G (p.Ala2427Gly)
c.735C>G
n.7366C>G
19g.38499976C>TCA405669477RYR1c.7283C>T (p.Ala2428Val)
c.7280C>T (p.Ala2427Val)
c.735C>T
n.7366C>T
19g.38499977C>ACA507353768RYR1c.7284C>A (p.Ala2428=)
c.7281C>A (p.Ala2427=)
c.736C>A
n.7367C>A
19g.38499977C=CA2335053036RYR1c.7284C= (p.Ala2428=)
c.7281C= (p.Ala2427=)
c.736C=
n.7367C=
19g.38499977C>GCA507353769RYR1c.7284C>G (p.Ala2428=)
c.7281C>G (p.Ala2427=)
c.736C>G
n.7367C>G
19g.38499977C>TCA082393RYR1c.7284C>T (p.Ala2428=)
c.7281C>T (p.Ala2427=)
c.736C>T
n.7367C>T
 dbSNP gnomAD v4
19g.38499978T>ACA405669482RYR1c.7285T>A (p.Leu2429Met)
c.7282T>A (p.Leu2428Met)
c.737T>A
n.7368T>A
19g.38499978T>CCA507353770RYR1c.7285T>C (p.Leu2429=)
c.7282T>C (p.Leu2428=)
c.737T>C
n.7368T>C
19g.38499978T>GCA405669479RYR1c.7285T>G (p.Leu2429Val)
c.7282T>G (p.Leu2428Val)
c.737T>G
n.7368T>G
19g.38499979T>ACA405669484RYR1c.7286T>A (p.Leu2429Ter)
c.7283T>A (p.Leu2428Ter)
c.738T>A
n.7369T>A
19g.38499979T>CCA405669487RYR1c.7286T>C (p.Leu2429Ser)
c.7283T>C (p.Leu2428Ser)
c.738T>C
n.7369T>C
19g.38499979T>GCA405669489RYR1c.7286T>G (p.Leu2429Trp)
c.7283T>G (p.Leu2428Trp)
c.738T>G
n.7369T>G
 gnomAD v4
19g.38499980G>ACA507353772RYR1c.7287G>A (p.Leu2429=)
c.7284G>A (p.Leu2428=)
c.739G>A
n.7370G>A
 gnomAD v4
19g.38499980G>CCA405669491RYR1c.7287G>C (p.Leu2429Phe)
c.7284G>C (p.Leu2428Phe)
c.739G>C
n.7370G>C
19g.38499980G>TCA405669493RYR1c.7287G>T (p.Leu2429Phe)
c.7284G>T (p.Leu2428Phe)
c.739G>T
n.7370G>T
19g.38499981A>CCA405669497RYR1c.7288A>C (p.Ile2430Leu)
c.7285A>C (p.Ile2429Leu)
c.740A>C
n.7371A>C
19g.38499981A>GCA405669506RYR1c.7288A>G (p.Ile2430Val)
c.7285A>G (p.Ile2429Val)
c.740A>G
n.7371A>G
 COSMIC
19g.38499981A>TCA405669509RYR1c.7288A>T (p.Ile2430Phe)
c.7285A>T (p.Ile2429Phe)
c.740A>T
n.7371A>T
19g.38499982T>ACA405669511RYR1c.7289T>A (p.Ile2430Asn)
c.7286T>A (p.Ile2429Asn)
c.741T>A
n.7372T>A
19g.38499982T>CCA405669512RYR1c.7289T>C (p.Ile2430Thr)
c.7286T>C (p.Ile2429Thr)
c.741T>C
n.7372T>C
19g.38499982T>GCA405669513RYR1c.7289T>G (p.Ile2430Ser)
c.7286T>G (p.Ile2429Ser)
c.741T>G
n.7372T>G
19g.38499983C>ACA507353776RYR1c.7290C>A (p.Ile2430=)
c.7287C>A (p.Ile2429=)
c.742C>A
n.7373C>A
 ClinVar gnomAD v4
19g.38499983C=CA2335053037RYR1c.7290C= (p.Ile2430=)
c.7287C= (p.Ile2429=)
c.742C=
n.7373C=
19g.38499983C>GCA069448RYR1c.7290C>G (p.Ile2430Met)
c.7287C>G (p.Ile2429Met)
c.742C>G
n.7373C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38499983C>TCA069451RYR1c.7290C>T (p.Ile2430=)
c.7287C>T (p.Ile2429=)
c.742C>T
n.7373C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.38499984G>ACA024741RYR1c.7291G>A (p.Asp2431Asn)
c.7288G>A (p.Asp2430Asn)
c.743G>A
n.7374G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38499984G>CCA405669517RYR1c.7291G>C (p.Asp2431His)
c.7288G>C (p.Asp2430His)
c.743G>C
n.7374G>C
19g.38499984G=CA2335053038RYR1c.7291G= (p.Asp2431=)
c.7288G= (p.Asp2430=)
c.743G=
n.7374G=
19g.38499984G>TCA024744RYR1c.7291G>T (p.Asp2431Tyr)
c.7288G>T (p.Asp2430Tyr)
c.743G>T
n.7374G>T
 ClinVar dbSNP gnomAD v4
19g.38499985A>CCA405669521RYR1c.7292A>C (p.Asp2431Ala)
c.7289A>C (p.Asp2430Ala)
c.744A>C
n.7375A>C
19g.38499985A>GCA405669523RYR1c.7292A>G (p.Asp2431Gly)
c.7289A>G (p.Asp2430Gly)
c.744A>G
n.7375A>G
 gnomAD v4
19g.38499985A>TCA405669526RYR1c.7292A>T (p.Asp2431Val)
c.7289A>T (p.Asp2430Val)
c.744A>T
n.7375A>T
 ClinVar dbSNP
19g.38499986C>ACA405669534RYR1c.7293C>A (p.Asp2431Glu)
c.7290C>A (p.Asp2430Glu)
c.745C>A
n.7376C>A
19g.38499986C=CA2335053039RYR1c.7293C= (p.Asp2431=)
c.7290C= (p.Asp2430=)
c.745C=
n.7376C=
19g.38499986C>GCA082394RYR1c.7293C>G (p.Asp2431Glu)
c.7290C>G (p.Asp2430Glu)
c.745C>G
n.7376C>G
19g.38499986C>TCA069456RYR1c.7293C>T (p.Asp2431=)
c.7290C>T (p.Asp2430=)
c.745C>T
n.7376C>T
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
19g.38499987C>ACA405669541RYR1c.7294C>A (p.Leu2432Met)
c.7291C>A (p.Leu2431Met)
c.746C>A
n.7377C>A
 COSMIC
19g.38499987C>GCA405669544RYR1c.7294C>G (p.Leu2432Val)
c.7291C>G (p.Leu2431Val)
c.746C>G
n.7377C>G
19g.38499987C>TCA507353779RYR1c.7294C>T (p.Leu2432=)
c.7291C>T (p.Leu2431=)
c.746C>T
n.7377C>T
19g.38499988T>ACA405669557RYR1c.7295T>A (p.Leu2432Gln)
c.7292T>A (p.Leu2431Gln)
c.747T>A
n.7378T>A
19g.38499988T>CCA405669558RYR1c.7295T>C (p.Leu2432Pro)
c.7292T>C (p.Leu2431Pro)
c.747T>C
n.7378T>C
19g.38499988T>GCA405669560RYR1c.7295T>G (p.Leu2432Arg)
c.7292T>G (p.Leu2431Arg)
c.747T>G
n.7378T>G
19g.38499989G>ACA507353783RYR1c.7296G>A (p.Leu2432=)
c.7293G>A (p.Leu2431=)
c.748G>A
n.7379G>A
19g.38499989G>CCA507353782RYR1c.7296G>C (p.Leu2432=)
c.7293G>C (p.Leu2431=)
c.748G>C
n.7379G>C
19g.38499989G>TCA507353781RYR1c.7296G>T (p.Leu2432=)
c.7293G>T (p.Leu2431=)
c.748G>T
n.7379G>T
19g.38499990C>ACA405669561RYR1c.7297C>A (p.Leu2433Ile)
c.7294C>A (p.Leu2432Ile)
c.749C>A
n.7380C>A
19g.38499990C>GCA405669562RYR1c.7297C>G (p.Leu2433Val)
c.7294C>G (p.Leu2432Val)
c.749C>G
n.7380C>G
19g.38499990C>TCA405669563RYR1c.7297C>T (p.Leu2433Phe)
c.7294C>T (p.Leu2432Phe)
c.749C>T
n.7380C>T
19g.38499991T>ACA405669565RYR1c.7298T>A (p.Leu2433His)
c.7295T>A (p.Leu2432His)
c.750T>A
n.7381T>A
19g.38499991T>CCA405669567RYR1c.7298T>C (p.Leu2433Pro)
c.7295T>C (p.Leu2432Pro)
c.750T>C
n.7381T>C
 ClinVar dbSNP
19g.38499991T>GCA405669564RYR1c.7298T>G (p.Leu2433Arg)
c.7295T>G (p.Leu2432Arg)
c.750T>G
n.7381T>G
19g.38499991T=CA2335053040RYR1c.7298T= (p.Leu2433=)
c.7295T= (p.Leu2432=)
c.750T=
n.7381T=
19g.38499992C>ACA507353784RYR1c.7299C>A (p.Leu2433=)
c.7296C>A (p.Leu2432=)
c.751C>A
n.7382C>A
19g.38499992C=CA2335053041RYR1c.7299C= (p.Leu2433=)
c.7296C= (p.Leu2432=)
c.751C=
n.7382C=
19g.38499992C>GCA507353786RYR1c.7299C>G (p.Leu2433=)
c.7296C>G (p.Leu2432=)
c.751C>G
n.7382C>G
19g.38499992C>TCA069459RYR1c.7299C>T (p.Leu2433=)
c.7296C>T (p.Leu2432=)
c.751C>T
n.7382C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38499993G>ACA024747RYR1c.7300G>A (p.Gly2434Arg)
c.7297G>A (p.Gly2433Arg)
c.752G>A
n.7383G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38499993G>CCA405669571RYR1c.7300G>C (p.Gly2434Arg)
c.7297G>C (p.Gly2433Arg)
c.752G>C
n.7383G>C
19g.38499993G=CA2335053042RYR1c.7300G= (p.Gly2434=)
c.7297G= (p.Gly2433=)
c.752G=
n.7383G=
19g.38499993G>TCA405669574RYR1c.7300G>T (p.Gly2434Ter)
c.7297G>T (p.Gly2433Ter)
c.752G>T
n.7383G>T
19g.38499994G>ACA405669580RYR1c.7301G>A (p.Gly2434Glu)
c.7298G>A (p.Gly2433Glu)
c.753G>A
n.7384G>A
19g.38499994G>CCA405669582RYR1c.7301G>C (p.Gly2434Ala)
c.7298G>C (p.Gly2433Ala)
c.753G>C
n.7384G>C
19g.38499994G>TCA405669583RYR1c.7301G>T (p.Gly2434Val)
c.7298G>T (p.Gly2433Val)
c.753G>T
n.7384G>T
19g.38499995A=CA2335053043RYR1c.7302A= (p.Gly2434=)
c.7299A= (p.Gly2433=)
c.754A=
n.7385A=
19g.38499995A>CCA507353790RYR1c.7302A>C (p.Gly2434=)
c.7299A>C (p.Gly2433=)
c.754A>C
n.7385A>C
19g.38499995A>GCA308109856RYR1c.7302A>G (p.Gly2434=)
c.7299A>G (p.Gly2433=)
c.754A>G
n.7385A>G
 ClinVar dbSNP
19g.38499995A>TCA507353791RYR1c.7302A>T (p.Gly2434=)
c.7299A>T (p.Gly2433=)
c.754A>T
n.7385A>T
19g.38499996C>ACA405669586RYR1c.7303C>A (p.Arg2435Ser)
c.7300C>A (p.Arg2434Ser)
c.755C>A
n.7386C>A
19g.38499996C=CA2335053044RYR1c.7303C= (p.Arg2435=)
c.7300C= (p.Arg2434=)
c.755C=
n.7386C=
19g.38499996C>GCA405669588RYR1c.7303C>G (p.Arg2435Gly)
c.7300C>G (p.Arg2434Gly)
c.755C>G
n.7386C>G
19g.38499996C>TCA405669590RYR1c.7303C>T (p.Arg2435Cys)
c.7300C>T (p.Arg2434Cys)
c.755C>T
n.7386C>T
 ClinVar dbSNP gnomAD v4 COSMIC
19g.38499997G>ACA024750RYR1c.7304G>A (p.Arg2435His)
c.7301G>A (p.Arg2434His)
c.756G>A
n.7387G>A
 ClinVar dbSNP gnomAD v4
19g.38499997G>CCA405669594RYR1c.7304G>C (p.Arg2435Pro)
c.7301G>C (p.Arg2434Pro)
c.756G>C
n.7387G>C
19g.38499997G=CA2335053045RYR1c.7304G= (p.Arg2435=)
c.7301G= (p.Arg2434=)
c.756G=
n.7387G=
19g.38499997G>TCA024753RYR1c.7304G>T (p.Arg2435Leu)
c.7301G>T (p.Arg2434Leu)
c.756G>T
n.7387G>T
 ClinVar dbSNP gnomAD v4
19g.38499998C>ACA507353792RYR1c.7305C>A (p.Arg2435=)
c.7302C>A (p.Arg2434=)
c.757C>A
n.7388C>A
19g.38499998C=CA2335053047RYR1c.7305C= (p.Arg2435=)
c.7302C= (p.Arg2434=)
c.757C=
n.7388C=
19g.38499998C>GCA507353793RYR1c.7305C>G (p.Arg2435=)
c.7302C>G (p.Arg2434=)
c.757C>G
n.7388C>G
19g.38499998C>TCA507353794RYR1c.7305C>T (p.Arg2435=)
c.7302C>T (p.Arg2434=)
c.757C>T
n.7388C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38499998_38500000delinsCTGCA2335053046RYR1c.7305_7307delinsCTG (p.Arg2435=)
c.7302_7304delinsCTG (p.Arg2434=)
c.757_759delinsCTG
n.7388_7390delinsCTG
19g.38499999T>ACA405669612RYR1c.7306T>A (p.Cys2436Ser)
c.7303T>A (p.Cys2435Ser)
c.758T>A
n.7389T>A
19g.38499999T>CCA405669615RYR1c.7306T>C (p.Cys2436Arg)
c.7303T>C (p.Cys2435Arg)
c.758T>C
n.7389T>C
 gnomAD v4
19g.38499999T>GCA405669614RYR1c.7306T>G (p.Cys2436Gly)
c.7303T>G (p.Cys2435Gly)
c.758T>G
n.7389T>G
19g.38500001_38500002delCA069470RYR1c.7308_7309del (p.Ala2437ThrfsTer12)
c.7305_7306del (p.Ala2436ThrfsTer12)
c.760_761del
n.7391_7392del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38500000G>ACA405669616RYR1c.7307G>A (p.Cys2436Tyr)
c.7304G>A (p.Cys2435Tyr)
c.759G>A
n.7390G>A
 ClinVar dbSNP gnomAD v4
19g.38500000G>CCA405669618RYR1c.7307G>C (p.Cys2436Ser)
c.7304G>C (p.Cys2435Ser)
c.759G>C
n.7390G>C
19g.38500000G=CA2740130092RYR1c.7307G= (p.Cys2436=)
c.7304G= (p.Cys2435=)
c.759G=
n.7390G=
19g.38500000G>TCA405669620RYR1c.7307G>T (p.Cys2436Phe)
c.7304G>T (p.Cys2435Phe)
c.759G>T
n.7390G>T
19g.38500001T>ACA405669622RYR1c.7308T>A (p.Cys2436Ter)
c.7305T>A (p.Cys2435Ter)
c.760T>A
n.7391T>A
19g.38500001T>CCA069474RYR1c.7308T>C (p.Cys2436=)
c.7305T>C (p.Cys2435=)
c.760T>C
n.7391T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38500001T>GCA405669624RYR1c.7308T>G (p.Cys2436Trp)
c.7305T>G (p.Cys2435Trp)
c.760T>G
n.7391T>G
19g.38500001T=CA2335053048RYR1c.7308T= (p.Cys2436=)
c.7305T= (p.Cys2435=)
c.760T=
n.7391T=
19g.38500002G>ACA405669626RYR1c.7309G>A (p.Ala2437Thr)
c.7306G>A (p.Ala2436Thr)
c.761G>A
n.7392G>A
19g.38500002G>CCA405669628RYR1c.7309G>C (p.Ala2437Pro)
c.7306G>C (p.Ala2436Pro)
c.761G>C
n.7392G>C
19g.38500002G>TCA405669635RYR1c.7309G>T (p.Ala2437Ser)
c.7306G>T (p.Ala2436Ser)
c.761G>T
n.7392G>T
19g.38500003C>ACA405669640RYR1c.7310C>A (p.Ala2437Glu)
c.7307C>A (p.Ala2436Glu)
c.762C>A
n.7393C>A
19g.38500003C=CA2335053049RYR1c.7310C= (p.Ala2437=)
c.7307C= (p.Ala2436=)
c.762C=
n.7393C=
19g.38500003C>GCA405669638RYR1c.7310C>G (p.Ala2437Gly)
c.7307C>G (p.Ala2436Gly)
c.762C>G
n.7393C>G
19g.38500003C>TCA024756RYR1c.7310C>T (p.Ala2437Val)
c.7307C>T (p.Ala2436Val)
c.762C>T
n.7393C>T
 ClinVar dbSNP
19g.38500004A=CA2335053050RYR1c.7311A= (p.Ala2437=)
c.7308A= (p.Ala2436=)
c.763A=
n.7394A=
19g.38500004A>CCA308109874RYR1c.7311A>C (p.Ala2437=)
c.7308A>C (p.Ala2436=)
c.763A>C
n.7394A>C
 dbSNP
19g.38500004A>GCA507353803RYR1c.7311A>G (p.Ala2437=)
c.7308A>G (p.Ala2436=)
c.763A>G
n.7394A>G
 ClinVar gnomAD v4
19g.38500004A>TCA507353804RYR1c.7311A>T (p.Ala2437=)
c.7308A>T (p.Ala2436=)
c.763A>T
n.7394A>T
19g.38500005C>ACA405669642RYR1c.7312C>A (p.Pro2438Thr)
c.7309C>A (p.Pro2437Thr)
c.764C>A
n.7395C>A
19g.38500005C>GCA405669645RYR1c.7312C>G (p.Pro2438Ala)
c.7309C>G (p.Pro2437Ala)
c.764C>G
n.7395C>G
 gnomAD v4
19g.38500005C>TCA405669643RYR1c.7312C>T (p.Pro2438Ser)
c.7309C>T (p.Pro2437Ser)
c.764C>T
n.7395C>T
 gnomAD v3 gnomAD v4
19g.38500006C>ACA405669650RYR1c.7313C>A (p.Pro2438Gln)
c.7310C>A (p.Pro2437Gln)
c.765C>A
n.7396C>A
19g.38500006C>GCA405669651RYR1c.7313C>G (p.Pro2438Arg)
c.7310C>G (p.Pro2437Arg)
c.765C>G
n.7396C>G
19g.38500006C>TCA405669657RYR1c.7313C>T (p.Pro2438Leu)
c.7310C>T (p.Pro2437Leu)
c.765C>T
n.7396C>T
19g.38500007A=CA2335053051RYR1c.7314A= (p.Pro2438=)
c.7311A= (p.Pro2437=)
c.766A=
n.7397A=
19g.38500007A>CCA507353806RYR1c.7314A>C (p.Pro2438=)
c.7311A>C (p.Pro2437=)
c.766A>C
n.7397A>C
19g.38500007A>GCA507353807RYR1c.7314A>G (p.Pro2438=)
c.7311A>G (p.Pro2437=)
c.766A>G
n.7397A>G
 ClinVar dbSNP gnomAD v4
19g.38500007A>TCA507353808RYR1c.7314A>T (p.Pro2438=)
c.7311A>T (p.Pro2437=)
c.766A>T
n.7397A>T
19g.38500008G>ACA405669658RYR1c.7315G>A (p.Glu2439Lys)
c.7312G>A (p.Glu2438Lys)
c.767G>A
n.7398G>A
 ClinVar dbSNP
19g.38500008G>CCA405669659RYR1c.7315G>C (p.Glu2439Gln)
c.7312G>C (p.Glu2438Gln)
c.767G>C
n.7398G>C
19g.38500008G=CA2335053052RYR1c.7315G= (p.Glu2439=)
c.7312G= (p.Glu2438=)
c.767G=
n.7398G=
19g.38500008G>TCA405669660RYR1c.7315G>T (p.Glu2439Ter)
c.7312G>T (p.Glu2438Ter)
c.767G>T
n.7398G>T
 gnomAD v4
19g.38500009A>CCA405669666RYR1c.7316A>C (p.Glu2439Ala)
c.7313A>C (p.Glu2438Ala)
c.768A>C
n.7399A>C
19g.38500009A>GCA405669662RYR1c.7316A>G (p.Glu2439Gly)
c.7313A>G (p.Glu2438Gly)
c.768A>G
n.7399A>G
 ClinVar
19g.38500009A>TCA405669664RYR1c.7316A>T (p.Glu2439Val)
c.7313A>T (p.Glu2438Val)
c.768A>T
n.7399A>T
19g.38500010G>ACA507353812RYR1c.7317G>A (p.Glu2439=)
c.7314G>A (p.Glu2438=)
c.769G>A
n.7400G>A
19g.38500010G>CCA024758RYR1c.7317G>C (p.Glu2439Asp)
c.7314G>C (p.Glu2438Asp)
c.769G>C
n.7400G>C
 ClinVar dbSNP
19g.38500010G=CA2335053053RYR1c.7317G= (p.Glu2439=)
c.7314G= (p.Glu2438=)
c.769G=
n.7400G=
19g.38500010G>TCA405669669RYR1c.7317G>T (p.Glu2439Asp)
c.7314G>T (p.Glu2438Asp)
c.769G>T
n.7400G>T
19g.38500011A>CCA405669670RYR1c.7318A>C (p.Met2440Leu)
c.7315A>C (p.Met2439Leu)
c.770A>C
n.7401A>C
19g.38500011A>GCA405669671RYR1c.7318A>G (p.Met2440Val)
c.7315A>G (p.Met2439Val)
c.770A>G
n.7401A>G
19g.38500011A>TCA405669672RYR1c.7318A>T (p.Met2440Leu)
c.7315A>T (p.Met2439Leu)
c.770A>T
n.7401A>T
19g.38500012T>ACA405669675RYR1c.7319T>A (p.Met2440Lys)
c.7316T>A (p.Met2439Lys)
c.771T>A
n.7402T>A
19g.38500012T>CCA405669677RYR1c.7319T>C (p.Met2440Thr)
c.7316T>C (p.Met2439Thr)
c.771T>C
n.7402T>C
19g.38500012T>GCA405669676RYR1c.7319T>G (p.Met2440Arg)
c.7316T>G (p.Met2439Arg)
c.771T>G
n.7402T>G
19g.38500013G>ACA405669679RYR1c.7320G>A (p.Met2440Ile)
c.7317G>A (p.Met2439Ile)
c.772G>A
n.7403G>A
 gnomAD v4
19g.38500013G>CCA405669681RYR1c.7320G>C (p.Met2440Ile)
c.7317G>C (p.Met2439Ile)
c.772G>C
n.7403G>C
19g.38500013G=CA2335053054RYR1c.7320G= (p.Met2440=)
c.7317G= (p.Met2439=)
c.772G=
n.7403G=
19g.38500013G>TCA308109894RYR1c.7320G>T (p.Met2440Ile)
c.7317G>T (p.Met2439Ile)
c.772G>T
n.7403G>T
 dbSNP
19g.38500014C>ACA405669683RYR1c.7321C>A (p.His2441Asn)
c.7318C>A (p.His2440Asn)
c.773C>A
n.7404C>A
19g.38500014C=CA2335053055RYR1c.7321C= (p.His2441=)
c.7318C= (p.His2440=)
c.773C=
n.7404C=
19g.38500014C>GCA069482RYR1c.7321C>G (p.His2441Asp)
c.7318C>G (p.His2440Asp)
c.773C>G
n.7404C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38500014C>TCA405669684RYR1c.7321C>T (p.His2441Tyr)
c.7318C>T (p.His2440Tyr)
c.773C>T
n.7404C>T
19g.38500015A>CCA405669685RYR1c.7322A>C (p.His2441Pro)
c.7319A>C (p.His2440Pro)
c.774A>C
n.7405A>C
 gnomAD v4
19g.38500015A>GCA405669688RYR1c.7322A>G (p.His2441Arg)
c.7319A>G (p.His2440Arg)
c.774A>G
n.7405A>G
19g.38500015A>TCA405669691RYR1c.7322A>T (p.His2441Leu)
c.7319A>T (p.His2440Leu)
c.774A>T
n.7405A>T
19g.38500016T>ACA405669695RYR1c.7323T>A (p.His2441Gln)
c.7320T>A (p.His2440Gln)
c.775T>A
n.7406T>A
19g.38500016T>CCA308109898RYR1c.7323T>C (p.His2441=)
c.7320T>C (p.His2440=)
c.775T>C
n.7406T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38500016T>GCA405669697RYR1c.7323T>G (p.His2441Gln)
c.7320T>G (p.His2440Gln)
c.775T>G
n.7406T>G
 dbSNP
19g.38500016T=CA2335053056RYR1c.7323T= (p.His2441=)
c.7320T= (p.His2440=)
c.775T=
n.7406T=
19g.38500017G>ACA069484RYR1c.7323+1G>A (n.7323+1G>A)
c.7320+1G>A (n.7320+1G>A)
c.775+1G>A
n.7406+1G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38500017G>CCA405669709RYR1c.7323+1G>C (n.7323+1G>C)
c.7320+1G>C (n.7320+1G>C)
c.775+1G>C
n.7406+1G>C
19g.38500017G=CA2335053057RYR1c.7323+1G= (n.7323+1G=)
c.7320+1G= (n.7320+1G=)
c.775+1G=
n.7406+1G=
19g.38500017G>TCA405669706RYR1c.7323+1G>T (n.7323+1G>T)
c.7320+1G>T (n.7320+1G>T)
c.775+1G>T
n.7406+1G>T
19g.38500018T>ACA405669713RYR1c.7323+2T>A (n.7323+2T>A)
c.7320+2T>A (n.7320+2T>A)
c.775+2T>A
n.7406+2T>A
19g.38500018T>CCA405669714RYR1c.7323+2T>C (n.7323+2T>C)
c.7320+2T>C (n.7320+2T>C)
c.775+2T>C
n.7406+2T>C
19g.38500018T>GCA405669715RYR1c.7323+2T>G (n.7323+2T>G)
c.7320+2T>G (n.7320+2T>G)
c.775+2T>G
n.7406+2T>G
19g.38500019G>ACA2576771092RYR1c.7323+3G>A (n.7323+3G>A)
c.7320+3G>A (n.7320+3G>A)
c.775+3G>A
n.7406+3G>A
19g.38500021G>TCA2584900092RYR1c.7323+5G>T (n.7323+5G>T)
c.7320+5G>T (n.7320+5G>T)
c.775+5G>T
n.7406+5G>T
 gnomAD v4

Number of alleles fetched