Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
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

Number of alleles fetched