Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38496901G>ACA024651RYR1c.6838G>A (p.Val2280Ile)
c.6835G>A (p.Val2279Ile)
c.290G>A
n.6921G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38496901G>CCA405666531RYR1c.6838G>C (p.Val2280Leu)
c.6835G>C (p.Val2279Leu)
c.290G>C
n.6921G>C
19g.38496901G=CA2335051493RYR1c.6838G= (p.Val2280=)
c.6835G= (p.Val2279=)
c.290G=
n.6921G=
19g.38496901G>TCA405666532RYR1c.6838G>T (p.Val2280Phe)
c.6835G>T (p.Val2279Phe)
c.290G>T
n.6921G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38496902T>ACA405666533RYR1c.6839T>A (p.Val2280Asp)
c.6836T>A (p.Val2279Asp)
c.291T>A
n.6922T>A
19g.38496902T>CCA405666534RYR1c.6839T>C (p.Val2280Ala)
c.6836T>C (p.Val2279Ala)
c.291T>C
n.6922T>C
 dbSNP gnomAD v2 gnomAD v4
19g.38496902T>GCA405666535RYR1c.6839T>G (p.Val2280Gly)
c.6836T>G (p.Val2279Gly)
c.291T>G
n.6922T>G
19g.38496902T=CA2335051494RYR1c.6839T= (p.Val2280=)
c.6836T= (p.Val2279=)
c.291T=
n.6922T=
19g.38496903C>ACA507242793RYR1c.6840C>A (p.Val2280=)
c.6837C>A (p.Val2279=)
c.292C>A
n.6923C>A
19g.38496903C>GCA507242794RYR1c.6840C>G (p.Val2280=)
c.6837C>G (p.Val2279=)
c.292C>G
n.6923C>G
19g.38496903C>TCA082201RYR1c.6840C>T (p.Val2280=)
c.6837C>T (p.Val2279=)
c.292C>T
n.6923C>T
19g.38496903_38496904delinsCACA2335051495RYR1c.6840_6841delinsCA (p.Val2280=)
c.6837_6838delinsCA (p.Val2279=)
c.292_293delinsCA
n.6923_6924delinsCA
19g.38496904delCA920105665RYR1c.6841del (p.Ile2281LeufsTer?)
c.6838del (p.Ile2280LeufsTer?)
c.293del
n.6924del
 dbSNP
19g.38496904A>CCA405666536RYR1c.6841A>C (p.Ile2281Leu)
c.6838A>C (p.Ile2280Leu)
c.293A>C
n.6924A>C
19g.38496904A>GCA405666537RYR1c.6841A>G (p.Ile2281Val)
c.6838A>G (p.Ile2280Val)
c.293A>G
n.6924A>G
19g.38496904A>TCA405666538RYR1c.6841A>T (p.Ile2281Phe)
c.6838A>T (p.Ile2280Phe)
c.293A>T
n.6924A>T
19g.38496905T>ACA405666541RYR1c.6842T>A (p.Ile2281Asn)
c.6839T>A (p.Ile2280Asn)
c.294T>A
n.6925T>A
19g.38496905T>CCA405666539RYR1c.6842T>C (p.Ile2281Thr)
c.6839T>C (p.Ile2280Thr)
c.294T>C
n.6925T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38496905T>GCA405666540RYR1c.6842T>G (p.Ile2281Ser)
c.6839T>G (p.Ile2280Ser)
c.294T>G
n.6925T>G
19g.38496905T=CA2335051496RYR1c.6842T= (p.Ile2281=)
c.6839T= (p.Ile2280=)
c.294T=
n.6925T=
19g.38496906T>ACA507242798RYR1c.6843T>A (p.Ile2281=)
c.6840T>A (p.Ile2280=)
c.295T>A
n.6926T>A
19g.38496906T>CCA507242799RYR1c.6843T>C (p.Ile2281=)
c.6840T>C (p.Ile2280=)
c.295T>C
n.6926T>C
19g.38496906T>GCA405666542RYR1c.6843T>G (p.Ile2281Met)
c.6840T>G (p.Ile2280Met)
c.295T>G
n.6926T>G
19g.38496907G>ACA405666543RYR1c.6844G>A (p.Asp2282Asn)
c.6841G>A (p.Asp2281Asn)
c.296G>A
n.6927G>A
19g.38496907G>CCA405666544RYR1c.6844G>C (p.Asp2282His)
c.6841G>C (p.Asp2281His)
c.296G>C
n.6927G>C
19g.38496907G>TCA405666545RYR1c.6844G>T (p.Asp2282Tyr)
c.6841G>T (p.Asp2281Tyr)
c.296G>T
n.6927G>T
 gnomAD v4
19g.38496908A>CCA405666546RYR1c.6845A>C (p.Asp2282Ala)
c.6842A>C (p.Asp2281Ala)
c.297A>C
n.6928A>C
 ClinVar dbSNP
19g.38496908A>GCA405666547RYR1c.6845A>G (p.Asp2282Gly)
c.6842A>G (p.Asp2281Gly)
c.297A>G
n.6928A>G
19g.38496908A>TCA405666548RYR1c.6845A>T (p.Asp2282Val)
c.6842A>T (p.Asp2281Val)
c.297A>T
n.6928A>T
19g.38496909C>ACA405666549RYR1c.6846C>A (p.Asp2282Glu)
c.6843C>A (p.Asp2281Glu)
c.298C>A
n.6929C>A
19g.38496909C>GCA405666550RYR1c.6846C>G (p.Asp2282Glu)
c.6843C>G (p.Asp2281Glu)
c.298C>G
n.6929C>G
19g.38496909C>TCA507242803RYR1c.6846C>T (p.Asp2282=)
c.6843C>T (p.Asp2281=)
c.298C>T
n.6929C>T
 gnomAD v4
19g.38496910A=CA2335051497RYR1c.6847A= (p.Asn2283=)
c.6844A= (p.Asn2282=)
c.299A=
n.6930A=
19g.38496910A>CCA024656RYR1c.6847A>C (p.Asn2283His)
c.6844A>C (p.Asn2282His)
c.299A>C
n.6930A>C
 ClinVar dbSNP
19g.38496910A>GCA405666551RYR1c.6847A>G (p.Asn2283Asp)
c.6844A>G (p.Asn2282Asp)
c.299A>G
n.6930A>G
19g.38496910A>TCA405666552RYR1c.6847A>T (p.Asn2283Tyr)
c.6844A>T (p.Asn2282Tyr)
c.299A>T
n.6930A>T
19g.38496911A>CCA405666553RYR1c.6848A>C (p.Asn2283Thr)
c.6845A>C (p.Asn2282Thr)
c.300A>C
n.6931A>C
19g.38496911A>GCA405666554RYR1c.6848A>G (p.Asn2283Ser)
c.6845A>G (p.Asn2282Ser)
c.300A>G
n.6931A>G
19g.38496911A>TCA405666555RYR1c.6848A>T (p.Asn2283Ile)
c.6845A>T (p.Asn2282Ile)
c.300A>T
n.6931A>T
19g.38496912C>ACA405666556RYR1c.6849C>A (p.Asn2283Lys)
c.6846C>A (p.Asn2282Lys)
c.301C>A
n.6932C>A
19g.38496912C=CA2335051498RYR1c.6849C= (p.Asn2283=)
c.6846C= (p.Asn2282=)
c.301C=
n.6932C=
19g.38496912C>GCA405666557RYR1c.6849C>G (p.Asn2283Lys)
c.6846C>G (p.Asn2282Lys)
c.301C>G
n.6932C>G
19g.38496912C>TCA082204RYR1c.6849C>T (p.Asn2283=)
c.6846C>T (p.Asn2282=)
c.301C>T
n.6932C>T
 dbSNP gnomAD v3 gnomAD v4
19g.38496912_38496913insCCCGTCCAGGCCTGCCCCCA082202RYR1c.6849_6850insCCCGTCCAGGCCTGCCCC (p.Asn2283_Asn2284insProValGlnAlaCysPro)
c.6846_6847insCCCGTCCAGGCCTGCCCC (p.Asn2282_Asn2283insProValGlnAlaCysPro)
c.301_302insCCCGTCCAGGCCTGCCCC
n.6932_6933insCCCGTCCAGGCCTGCCCC
19g.38496913A=CA2335051499RYR1c.6850A= (p.Asn2284=)
c.6847A= (p.Asn2283=)
c.302A=
n.6933A=
19g.38496913A>CCA405666558RYR1c.6850A>C (p.Asn2284His)
c.6847A>C (p.Asn2283His)
c.302A>C
n.6933A>C
19g.38496913A>GCA405666559RYR1c.6850A>G (p.Asn2284Asp)
c.6847A>G (p.Asn2283Asp)
c.302A>G
n.6933A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38496913A>TCA405666560RYR1c.6850A>T (p.Asn2284Tyr)
c.6847A>T (p.Asn2283Tyr)
c.302A>T
n.6933A>T
19g.38496914A=CA2335051500RYR1c.6851A= (p.Asn2284=)
c.6848A= (p.Asn2283=)
c.303A=
n.6934A=
19g.38496914A>CCA405666561RYR1c.6851A>C (p.Asn2284Thr)
c.6848A>C (p.Asn2283Thr)
c.303A>C
n.6934A>C
 dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched