Chr Mutation (hg38) CAid Gene Transcript Linkouts
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

Number of alleles fetched