Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38510652G>ACA073078RYR1c.9001-8G>A (n.9001-8G>A)
c.8998-8G>A (n.8998-8G>A)
c.2453-8G>A
n.9084-8G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38510652G>CCA633066695RYR1c.9001-8G>C (n.9001-8G>C)
c.8998-8G>C (n.8998-8G>C)
c.2453-8G>C
n.9084-8G>C
 dbSNP gnomAD v2 gnomAD v4
19g.38510652G=CA2335058863RYR1c.9001-8G= (n.9001-8G=)
c.8998-8G= (n.8998-8G=)
c.2453-8G=
n.9084-8G=
19g.38510653T>ACA2584902834RYR1c.9001-7T>A (n.9001-7T>A)
c.8998-7T>A (n.8998-7T>A)
c.2453-7T>A
n.9084-7T>A
 gnomAD v4
19g.38510654C>ACA2584902836RYR1c.9001-6C>A (n.9001-6C>A)
c.8998-6C>A (n.8998-6C>A)
c.2453-6C>A
n.9084-6C>A
 gnomAD v4
19g.38510654C>GCA2584902835RYR1c.9001-6C>G (n.9001-6C>G)
c.8998-6C>G (n.8998-6C>G)
c.2453-6C>G
n.9084-6C>G
 gnomAD v4
19g.38510654C>TCA2739276827RYR1c.9001-6C>T (n.9001-6C>T)
c.8998-6C>T (n.8998-6C>T)
c.2453-6C>T
n.9084-6C>T
 ClinVar
19g.38510656C>ACA2584902837RYR1c.9001-4C>A (n.9001-4C>A)
c.8998-4C>A (n.8998-4C>A)
c.2453-4C>A
n.9084-4C>A
 gnomAD v4
19g.38510658A=CA2335058864RYR1c.9001-2A= (n.9001-2A=)
c.8998-2A= (n.8998-2A=)
c.2453-2A=
n.9084-2A=
19g.38510658A>CCA405683535RYR1c.9001-2A>C (n.9001-2A>C)
c.8998-2A>C (n.8998-2A>C)
c.2453-2A>C
n.9084-2A>C
19g.38510658A>GCA073062RYR1c.9001-2A>G (n.9001-2A>G)
c.8998-2A>G (n.8998-2A>G)
c.2453-2A>G
n.9084-2A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38510658A>TCA405683538RYR1c.9001-2A>T (n.9001-2A>T)
c.8998-2A>T (n.8998-2A>T)
c.2453-2A>T
n.9084-2A>T
19g.38510659G>ACA405683541RYR1c.9001-1G>A (n.9001-1G>A)
c.8998-1G>A (n.8998-1G>A)
c.2453-1G>A
n.9084-1G>A
19g.38510659G>CCA405683544RYR1c.9001-1G>C (n.9001-1G>C)
c.8998-1G>C (n.8998-1G>C)
c.2453-1G>C
n.9084-1G>C
19g.38510659G>TCA405683545RYR1c.9001-1G>T (n.9001-1G>T)
c.8998-1G>T (n.8998-1G>T)
c.2453-1G>T
n.9084-1G>T
19g.38510660A>CCA405683548RYR1c.9001A>C (p.Ile3001Leu)
c.8998A>C (p.Ile3000Leu)
c.2453A>C
n.9084A>C
19g.38510660A>GCA405683550RYR1c.9001A>G (p.Ile3001Val)
c.8998A>G (p.Ile3000Val)
c.2453A>G
n.9084A>G
19g.38510660A>TCA405683552RYR1c.9001A>T (p.Ile3001Phe)
c.8998A>T (p.Ile3000Phe)
c.2453A>T
n.9084A>T
19g.38510661T>ACA405683557RYR1c.9002T>A (p.Ile3001Asn)
c.8999T>A (p.Ile3000Asn)
c.2454T>A
n.9085T>A
19g.38510661T>CCA405683555RYR1c.9002T>C (p.Ile3001Thr)
c.8999T>C (p.Ile3000Thr)
c.2454T>C
n.9085T>C
19g.38510661T>GCA405683553RYR1c.9002T>G (p.Ile3001Ser)
c.8999T>G (p.Ile3000Ser)
c.2454T>G
n.9085T>G
19g.38510662C>ACA507246195RYR1c.9003C>A (p.Ile3001=)
c.9000C>A (p.Ile3000=)
c.2455C>A
n.9086C>A
19g.38510662C=CA2335058865RYR1c.9003C= (p.Ile3001=)
c.9000C= (p.Ile3000=)
c.2455C=
n.9086C=
19g.38510662C>GCA405683558RYR1c.9003C>G (p.Ile3001Met)
c.9000C>G (p.Ile3000Met)
c.2455C>G
n.9086C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38510662C>TCA507246196RYR1c.9003C>T (p.Ile3001=)
c.9000C>T (p.Ile3000=)
c.2455C>T
n.9086C>T
 COSMIC
19g.38510663delCA2584902838RYR1c.9004del (p.Leu3002CysfsTer4)
c.9001del (p.Leu3001CysfsTer4)
c.2456del
n.9087del
 gnomAD v4
19g.38510663C>ACA405683559RYR1c.9004C>A (p.Leu3002Met)
c.9001C>A (p.Leu3001Met)
c.2456C>A
n.9087C>A
19g.38510663C>GCA405683561RYR1c.9004C>G (p.Leu3002Val)
c.9001C>G (p.Leu3001Val)
c.2456C>G
n.9087C>G
19g.38510663C>TCA507246197RYR1c.9004C>T (p.Leu3002=)
c.9001C>T (p.Leu3001=)
c.2456C>T
n.9087C>T
19g.38510664T>ACA405683563RYR1c.9005T>A (p.Leu3002Gln)
c.9002T>A (p.Leu3001Gln)
c.2457T>A
n.9088T>A
19g.38510664T>CCA405683565RYR1c.9005T>C (p.Leu3002Pro)
c.9002T>C (p.Leu3001Pro)
c.2457T>C
n.9088T>C
19g.38510664T>GCA405683567RYR1c.9005T>G (p.Leu3002Arg)
c.9002T>G (p.Leu3001Arg)
c.2457T>G
n.9088T>G
19g.38510665G>ACA507246198RYR1c.9006G>A (p.Leu3002=)
c.9003G>A (p.Leu3001=)
c.2458G>A
n.9089G>A
 ClinVar
19g.38510665G>CCA507246200RYR1c.9006G>C (p.Leu3002=)
c.9003G>C (p.Leu3001=)
c.2458G>C
n.9089G>C
 ClinVar dbSNP
19g.38510665G=CA2335058866RYR1c.9006G= (p.Leu3002=)
c.9003G= (p.Leu3001=)
c.2458G=
n.9089G=
19g.38510665G>TCA507246199RYR1c.9006G>T (p.Leu3002=)
c.9003G>T (p.Leu3001=)
c.2458G>T
n.9089G>T
 dbSNP gnomAD v3 gnomAD v4
19g.38510666C>ACA405683570RYR1c.9007C>A (p.Leu3003Ile)
c.9004C>A (p.Leu3002Ile)
c.2459C>A
n.9090C>A
19g.38510666C=CA2335058867RYR1c.9007C= (p.Leu3003=)
c.9004C= (p.Leu3002=)
c.2459C=
n.9090C=
19g.38510666C>GCA405683572RYR1c.9007C>G (p.Leu3003Val)
c.9004C>G (p.Leu3002Val)
c.2459C>G
n.9090C>G
 ClinVar dbSNP gnomAD v4
19g.38510666C>TCA405683573RYR1c.9007C>T (p.Leu3003Phe)
c.9004C>T (p.Leu3002Phe)
c.2459C>T
n.9090C>T
 ClinVar dbSNP gnomAD v4
19g.38510667T>ACA405683575RYR1c.9008T>A (p.Leu3003His)
c.9005T>A (p.Leu3002His)
c.2460T>A
n.9091T>A
19g.38510667T>CCA405683577RYR1c.9008T>C (p.Leu3003Pro)
c.9005T>C (p.Leu3002Pro)
c.2460T>C
n.9091T>C
19g.38510667T>GCA405683579RYR1c.9008T>G (p.Leu3003Arg)
c.9005T>G (p.Leu3002Arg)
c.2460T>G
n.9091T>G
19g.38510668C>ACA507246202RYR1c.9009C>A (p.Leu3003=)
c.9006C>A (p.Leu3002=)
c.2461C>A
n.9092C>A
19g.38510668C=CA2335058868RYR1c.9009C= (p.Leu3003=)
c.9006C= (p.Leu3002=)
c.2461C=
n.9092C=
19g.38510668C>GCA507246201RYR1c.9009C>G (p.Leu3003=)
c.9006C>G (p.Leu3002=)
c.2461C>G
n.9092C>G
19g.38510668C>TCA073082RYR1c.9009C>T (p.Leu3003=)
c.9006C>T (p.Leu3002=)
c.2461C>T
n.9092C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38510669C>ACA405683586RYR1c.9010C>A (p.Pro3004Thr)
c.9007C>A (p.Pro3003Thr)
c.2462C>A
n.9093C>A
19g.38510669C>GCA405683584RYR1c.9010C>G (p.Pro3004Ala)
c.9007C>G (p.Pro3003Ala)
c.2462C>G
n.9093C>G
19g.38510669C>TCA405683582RYR1c.9010C>T (p.Pro3004Ser)
c.9007C>T (p.Pro3003Ser)
c.2462C>T
n.9093C>T
19g.38510670C>ACA405683587RYR1c.9011C>A (p.Pro3004His)
c.9008C>A (p.Pro3003His)
c.2463C>A
n.9094C>A
19g.38510670C>GCA405683589RYR1c.9011C>G (p.Pro3004Arg)
c.9008C>G (p.Pro3003Arg)
c.2463C>G
n.9094C>G
19g.38510670C>TCA405683591RYR1c.9011C>T (p.Pro3004Leu)
c.9008C>T (p.Pro3003Leu)
c.2463C>T
n.9094C>T
19g.38510671T>ACA507246203RYR1c.9012T>A (p.Pro3004=)
c.9009T>A (p.Pro3003=)
c.2464T>A
n.9095T>A
19g.38510671T>CCA507246205RYR1c.9012T>C (p.Pro3004=)
c.9009T>C (p.Pro3003=)
c.2464T>C
n.9095T>C
19g.38510671T>GCA507246204RYR1c.9012T>G (p.Pro3004=)
c.9009T>G (p.Pro3003=)
c.2464T>G
n.9095T>G
19g.38510672T>ACA405683593RYR1c.9013T>A (p.Leu3005Met)
c.9010T>A (p.Leu3004Met)
c.2465T>A
n.9096T>A
 ClinVar dbSNP
19g.38510672T>CCA507246206RYR1c.9013T>C (p.Leu3005=)
c.9010T>C (p.Leu3004=)
c.2465T>C
n.9096T>C
19g.38510672T>GCA405683595RYR1c.9013T>G (p.Leu3005Val)
c.9010T>G (p.Leu3004Val)
c.2465T>G
n.9096T>G
19g.38510672T=CA2335058869RYR1c.9013T= (p.Leu3005=)
c.9010T= (p.Leu3004=)
c.2465T=
n.9096T=
19g.38510673T>ACA405683597RYR1c.9014T>A (p.Leu3005Ter)
c.9011T>A (p.Leu3004Ter)
c.2466T>A
n.9097T>A
19g.38510673T>CCA073085RYR1c.9014T>C (p.Leu3005Ser)
c.9011T>C (p.Leu3004Ser)
c.2466T>C
n.9097T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38510673T>GCA405683601RYR1c.9014T>G (p.Leu3005Trp)
c.9011T>G (p.Leu3004Trp)
c.2466T>G
n.9097T>G
19g.38510673T=CA2335058870RYR1c.9014T= (p.Leu3005=)
c.9011T= (p.Leu3004=)
c.2466T=
n.9097T=
19g.38510674G>ACA507246207RYR1c.9015G>A (p.Leu3005=)
c.9012G>A (p.Leu3004=)
c.2467G>A
n.9098G>A
19g.38510674G>CCA405683603RYR1c.9015G>C (p.Leu3005Phe)
c.9012G>C (p.Leu3004Phe)
c.2467G>C
n.9098G>C
19g.38510674G>TCA405683605RYR1c.9015G>T (p.Leu3005Phe)
c.9012G>T (p.Leu3004Phe)
c.2467G>T
n.9098G>T
 COSMIC
19g.38510675A>CCA405683607RYR1c.9016A>C (p.Ile3006Leu)
c.9013A>C (p.Ile3005Leu)
c.2468A>C
n.9099A>C
19g.38510675A>GCA405683608RYR1c.9016A>G (p.Ile3006Val)
c.9013A>G (p.Ile3005Val)
c.2468A>G
n.9099A>G
19g.38510675A>TCA405683609RYR1c.9016A>T (p.Ile3006Phe)
c.9013A>T (p.Ile3005Phe)
c.2468A>T
n.9099A>T
19g.38510676T>ACA405683611RYR1c.9017T>A (p.Ile3006Asn)
c.9014T>A (p.Ile3005Asn)
c.2469T>A
n.9100T>A
19g.38510676T>CCA084313RYR1c.9017T>C (p.Ile3006Thr)
c.9014T>C (p.Ile3005Thr)
c.2469T>C
n.9100T>C
19g.38510676T>GCA405683610RYR1c.9017T>G (p.Ile3006Ser)
c.9014T>G (p.Ile3005Ser)
c.2469T>G
n.9100T>G
19g.38510677C>ACA507246208RYR1c.9018C>A (p.Ile3006=)
c.9015C>A (p.Ile3005=)
c.2470C>A
n.9101C>A
19g.38510677C>GCA405683612RYR1c.9018C>G (p.Ile3006Met)
c.9015C>G (p.Ile3005Met)
c.2470C>G
n.9101C>G
19g.38510677C>TCA507246209RYR1c.9018C>T (p.Ile3006=)
c.9015C>T (p.Ile3005=)
c.2470C>T
n.9101C>T
19g.38510678A>CCA405683615RYR1c.9019A>C (p.Asn3007His)
c.9016A>C (p.Asn3006His)
c.2471A>C
n.9102A>C
19g.38510678A>GCA405683613RYR1c.9019A>G (p.Asn3007Asp)
c.9016A>G (p.Asn3006Asp)
c.2471A>G
n.9102A>G
19g.38510678A>TCA405683614RYR1c.9019A>T (p.Asn3007Tyr)
c.9016A>T (p.Asn3006Tyr)
c.2471A>T
n.9102A>T
19g.38510679A=CA2335058871RYR1c.9020A= (p.Asn3007=)
c.9017A= (p.Asn3006=)
c.2472A=
n.9103A=
19g.38510679A>CCA405683616RYR1c.9020A>C (p.Asn3007Thr)
c.9017A>C (p.Asn3006Thr)
c.2472A>C
n.9103A>C
19g.38510679A>GCA405683617RYR1c.9020A>G (p.Asn3007Ser)
c.9017A>G (p.Asn3006Ser)
c.2472A>G
n.9103A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38510679A>TCA405683618RYR1c.9020A>T (p.Asn3007Ile)
c.9017A>T (p.Asn3006Ile)
c.2472A>T
n.9103A>T
19g.38510680C>ACA405683619RYR1c.9021C>A (p.Asn3007Lys)
c.9018C>A (p.Asn3006Lys)
c.2473C>A
n.9104C>A
19g.38510680C>GCA405683621RYR1c.9021C>G (p.Asn3007Lys)
c.9018C>G (p.Asn3006Lys)
c.2473C>G
n.9104C>G
19g.38510680C>TCA507246210RYR1c.9021C>T (p.Asn3007=)
c.9018C>T (p.Asn3006=)
c.2473C>T
n.9104C>T
19g.38510681C>ACA405683622RYR1c.9022C>A (p.Gln3008Lys)
c.9019C>A (p.Gln3007Lys)
c.2474C>A
n.9105C>A
19g.38510681C>GCA405683623RYR1c.9022C>G (p.Gln3008Glu)
c.9019C>G (p.Gln3007Glu)
c.2474C>G
n.9105C>G
19g.38510681C>TCA405683624RYR1c.9022C>T (p.Gln3008Ter)
c.9019C>T (p.Gln3007Ter)
c.2474C>T
n.9105C>T
19g.38510682A>CCA405683626RYR1c.9023A>C (p.Gln3008Pro)
c.9020A>C (p.Gln3007Pro)
c.2475A>C
n.9106A>C
19g.38510682A>GCA405683627RYR1c.9023A>G (p.Gln3008Arg)
c.9020A>G (p.Gln3007Arg)
c.2475A>G
n.9106A>G
19g.38510682A>TCA405683628RYR1c.9023A>T (p.Gln3008Leu)
c.9020A>T (p.Gln3007Leu)
c.2475A>T
n.9106A>T
19g.38510683G>ACA507246211RYR1c.9024G>A (p.Gln3008=)
c.9021G>A (p.Gln3007=)
c.2476G>A
n.9107G>A
19g.38510683G>CCA405683629RYR1c.9024G>C (p.Gln3008His)
c.9021G>C (p.Gln3007His)
c.2476G>C
n.9107G>C
19g.38510683G>TCA405683630RYR1c.9024G>T (p.Gln3008His)
c.9021G>T (p.Gln3007His)
c.2476G>T
n.9107G>T
19g.38510684T>ACA405683632RYR1c.9025T>A (p.Tyr3009Asn)
c.9022T>A (p.Tyr3008Asn)
c.2477T>A
n.9108T>A
19g.38510684T>CCA405683634RYR1c.9025T>C (p.Tyr3009His)
c.9022T>C (p.Tyr3008His)
c.2477T>C
n.9108T>C
19g.38510684T>GCA405683635RYR1c.9025T>G (p.Tyr3009Asp)
c.9022T>G (p.Tyr3008Asp)
c.2477T>G
n.9108T>G
19g.38510685A>CCA405683637RYR1c.9026A>C (p.Tyr3009Ser)
c.9023A>C (p.Tyr3008Ser)
c.2478A>C
n.9109A>C
 gnomAD v4
19g.38510685A>GCA405683638RYR1c.9026A>G (p.Tyr3009Cys)
c.9023A>G (p.Tyr3008Cys)
c.2478A>G
n.9109A>G
 gnomAD v4
19g.38510685A>TCA405683640RYR1c.9026A>T (p.Tyr3009Phe)
c.9023A>T (p.Tyr3008Phe)
c.2478A>T
n.9109A>T
19g.38510686C>ACA405683641RYR1c.9027C>A (p.Tyr3009Ter)
c.9024C>A (p.Tyr3008Ter)
c.2479C>A
n.9110C>A
 ClinVar
19g.38510686C>GCA405683643RYR1c.9027C>G (p.Tyr3009Ter)
c.9024C>G (p.Tyr3008Ter)
c.2479C>G
n.9110C>G
19g.38510686C>TCA507246212RYR1c.9027C>T (p.Tyr3009=)
c.9024C>T (p.Tyr3008=)
c.2479C>T
n.9110C>T
19g.38510687T>ACA405683644RYR1c.9028T>A (p.Phe3010Ile)
c.9025T>A (p.Phe3009Ile)
c.2480T>A
n.9111T>A
19g.38510687T>CCA405683646RYR1c.9028T>C (p.Phe3010Leu)
c.9025T>C (p.Phe3009Leu)
c.2480T>C
n.9111T>C
 dbSNP gnomAD v3 gnomAD v4
19g.38510687T>GCA405683648RYR1c.9028T>G (p.Phe3010Val)
c.9025T>G (p.Phe3009Val)
c.2480T>G
n.9111T>G
 ClinVar gnomAD v4
19g.38510687T=CA2335058872RYR1c.9028T= (p.Phe3010=)
c.9025T= (p.Phe3009=)
c.2480T=
n.9111T=
19g.38510688T>ACA405683654RYR1c.9029T>A (p.Phe3010Tyr)
c.9026T>A (p.Phe3009Tyr)
c.2481T>A
n.9112T>A
19g.38510688T>CCA405683652RYR1c.9029T>C (p.Phe3010Ser)
c.9026T>C (p.Phe3009Ser)
c.2481T>C
n.9112T>C
19g.38510688T>GCA405683650RYR1c.9029T>G (p.Phe3010Cys)
c.9026T>G (p.Phe3009Cys)
c.2481T>G
n.9112T>G
19g.38510689C>ACA405683655RYR1c.9030C>A (p.Phe3010Leu)
c.9027C>A (p.Phe3009Leu)
c.2482C>A
n.9113C>A
19g.38510689C=CA2335058873RYR1c.9030C= (p.Phe3010=)
c.9027C= (p.Phe3009=)
c.2482C=
n.9113C=
19g.38510689C>GCA405683656RYR1c.9030C>G (p.Phe3010Leu)
c.9027C>G (p.Phe3009Leu)
c.2482C>G
n.9113C>G
19g.38510689C>TCA507246213RYR1c.9030C>T (p.Phe3010=)
c.9027C>T (p.Phe3009=)
c.2482C>T
n.9113C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38510690A=CA2335058874RYR1c.9031A= (p.Thr3011=)
c.9028A= (p.Thr3010=)
c.2483A=
n.9114A=
19g.38510690A>CCA405683659RYR1c.9031A>C (p.Thr3011Pro)
c.9028A>C (p.Thr3010Pro)
c.2483A>C
n.9114A>C
 dbSNP
19g.38510690A>GCA405683660RYR1c.9031A>G (p.Thr3011Ala)
c.9028A>G (p.Thr3010Ala)
c.2483A>G
n.9114A>G
19g.38510690A>TCA405683662RYR1c.9031A>T (p.Thr3011Ser)
c.9028A>T (p.Thr3010Ser)
c.2483A>T
n.9114A>T
19g.38510691C>ACA405683664RYR1c.9032C>A (p.Thr3011Asn)
c.9029C>A (p.Thr3010Asn)
c.2484C>A
n.9115C>A
19g.38510691C=CA2335058875RYR1c.9032C= (p.Thr3011=)
c.9029C= (p.Thr3010=)
c.2484C=
n.9115C=
19g.38510691C>GCA405683666RYR1c.9032C>G (p.Thr3011Ser)
c.9029C>G (p.Thr3010Ser)
c.2484C>G
n.9115C>G
 dbSNP gnomAD v3 gnomAD v4
19g.38510691C>TCA084289RYR1c.9032C>T (p.Thr3011Ile)
c.9029C>T (p.Thr3010Ile)
c.2484C>T
n.9115C>T
 dbSNP gnomAD v4
19g.38510692C>ACA507246214RYR1c.9033C>A (p.Thr3011=)
c.9030C>A (p.Thr3010=)
c.2485C>A
n.9116C>A
19g.38510692C>GCA507246215RYR1c.9033C>G (p.Thr3011=)
c.9030C>G (p.Thr3010=)
c.2485C>G
n.9116C>G
19g.38510692C>TCA507246216RYR1c.9033C>T (p.Thr3011=)
c.9030C>T (p.Thr3010=)
c.2485C>T
n.9116C>T
19g.38510693A>CCA405683667RYR1c.9034A>C (p.Asn3012His)
c.9031A>C (p.Asn3011His)
c.2486A>C
n.9117A>C
 gnomAD v4
19g.38510693A>GCA405683669RYR1c.9034A>G (p.Asn3012Asp)
c.9031A>G (p.Asn3011Asp)
c.2486A>G
n.9117A>G
 ClinVar
19g.38510693A>TCA405683671RYR1c.9034A>T (p.Asn3012Tyr)
c.9031A>T (p.Asn3011Tyr)
c.2486A>T
n.9117A>T
19g.38510694A=CA2335058876RYR1c.9035A= (p.Asn3012=)
c.9032A= (p.Asn3011=)
c.2487A=
n.9118A=
19g.38510694A>CCA405683674RYR1c.9035A>C (p.Asn3012Thr)
c.9032A>C (p.Asn3011Thr)
c.2487A>C
n.9118A>C
19g.38510694A>GCA073092RYR1c.9035A>G (p.Asn3012Ser)
c.9032A>G (p.Asn3011Ser)
c.2487A>G
n.9118A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38510694A>TCA405683677RYR1c.9035A>T (p.Asn3012Ile)
c.9032A>T (p.Asn3011Ile)
c.2487A>T
n.9118A>T
19g.38510695C>ACA405683679RYR1c.9036C>A (p.Asn3012Lys)
c.9033C>A (p.Asn3011Lys)
c.2488C>A
n.9119C>A
19g.38510695C>GCA405683681RYR1c.9036C>G (p.Asn3012Lys)
c.9033C>G (p.Asn3011Lys)
c.2488C>G
n.9119C>G
 gnomAD v4
19g.38510695C>TCA507246217RYR1c.9036C>T (p.Asn3012=)
c.9033C>T (p.Asn3011=)
c.2488C>T
n.9119C>T
19g.38510696C>ACA405683682RYR1c.9037C>A (p.His3013Asn)
c.9034C>A (p.His3012Asn)
c.2489C>A
n.9120C>A
19g.38510696C>GCA405683684RYR1c.9037C>G (p.His3013Asp)
c.9034C>G (p.His3012Asp)
c.2489C>G
n.9120C>G
 ClinVar
19g.38510696C>TCA405683685RYR1c.9037C>T (p.His3013Tyr)
c.9034C>T (p.His3012Tyr)
c.2489C>T
n.9120C>T
19g.38510697A>CCA405683686RYR1c.9038A>C (p.His3013Pro)
c.9035A>C (p.His3012Pro)
c.2490A>C
n.9121A>C
19g.38510697A>GCA084316RYR1c.9038A>G (p.His3013Arg)
c.9035A>G (p.His3012Arg)
c.2490A>G
n.9121A>G
19g.38510697A>TCA405683688RYR1c.9038A>T (p.His3013Leu)
c.9035A>T (p.His3012Leu)
c.2490A>T
n.9121A>T
19g.38510698C>ACA405683690RYR1c.9039C>A (p.His3013Gln)
c.9036C>A (p.His3012Gln)
c.2491C>A
n.9122C>A
19g.38510698C=CA2335058877RYR1c.9039C= (p.His3013=)
c.9036C= (p.His3012=)
c.2491C=
n.9122C=
19g.38510698C>GCA405683692RYR1c.9039C>G (p.His3013Gln)
c.9036C>G (p.His3012Gln)
c.2491C>G
n.9122C>G
19g.38510698C>TCA507246218RYR1c.9039C>T (p.His3013=)
c.9036C>T (p.His3012=)
c.2491C>T
n.9122C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38510699T>ACA405683694RYR1c.9040T>A (p.Cys3014Ser)
c.9037T>A (p.Cys3013Ser)
c.2492T>A
n.9123T>A
19g.38510699T>CCA405683695RYR1c.9040T>C (p.Cys3014Arg)
c.9037T>C (p.Cys3013Arg)
c.2492T>C
n.9123T>C
19g.38510699T>GCA405683697RYR1c.9040T>G (p.Cys3014Gly)
c.9037T>G (p.Cys3013Gly)
c.2492T>G
n.9123T>G
19g.38510700G>ACA405683704RYR1c.9041G>A (p.Cys3014Tyr)
c.9038G>A (p.Cys3013Tyr)
c.2493G>A
n.9124G>A
19g.38510700G>CCA405683702RYR1c.9041G>C (p.Cys3014Ser)
c.9038G>C (p.Cys3013Ser)
c.2493G>C
n.9124G>C
19g.38510700G>TCA405683700RYR1c.9041G>T (p.Cys3014Phe)
c.9038G>T (p.Cys3013Phe)
c.2493G>T
n.9124G>T
19g.38510701C>ACA405683706RYR1c.9042C>A (p.Cys3014Ter)
c.9039C>A (p.Cys3013Ter)
c.2494C>A
n.9125C>A
19g.38510701C>GCA405683707RYR1c.9042C>G (p.Cys3014Trp)
c.9039C>G (p.Cys3013Trp)
c.2494C>G
n.9125C>G
19g.38510701C>TCA507246219RYR1c.9042C>T (p.Cys3014=)
c.9039C>T (p.Cys3013=)
c.2494C>T
n.9125C>T
19g.38510702C>ACA405683710RYR1c.9043C>A (p.Leu3015Ile)
c.9040C>A (p.Leu3014Ile)
c.2495C>A
n.9126C>A
19g.38510702C>GCA405683712RYR1c.9043C>G (p.Leu3015Val)
c.9040C>G (p.Leu3014Val)
c.2495C>G
n.9126C>G
19g.38510702C>TCA405683711RYR1c.9043C>T (p.Leu3015Phe)
c.9040C>T (p.Leu3014Phe)
c.2495C>T
n.9126C>T
19g.38510703T>ACA405683714RYR1c.9044T>A (p.Leu3015His)
c.9041T>A (p.Leu3014His)
c.2496T>A
n.9127T>A
19g.38510703T>CCA405683716RYR1c.9044T>C (p.Leu3015Pro)
c.9041T>C (p.Leu3014Pro)
c.2496T>C
n.9127T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38510703T>GCA405683717RYR1c.9044T>G (p.Leu3015Arg)
c.9041T>G (p.Leu3014Arg)
c.2496T>G
n.9127T>G
19g.38510703T=CA2335058878RYR1c.9044T= (p.Leu3015=)
c.9041T= (p.Leu3014=)
c.2496T=
n.9127T=
19g.38510704C>ACA507246222RYR1c.9045C>A (p.Leu3015=)
c.9042C>A (p.Leu3014=)
c.2497C>A
n.9128C>A
19g.38510704C>GCA507246221RYR1c.9045C>G (p.Leu3015=)
c.9042C>G (p.Leu3014=)
c.2497C>G
n.9128C>G
 COSMIC
19g.38510704C>TCA507246220RYR1c.9045C>T (p.Leu3015=)
c.9042C>T (p.Leu3014=)
c.2497C>T
n.9128C>T
19g.38510705T>ACA405683719RYR1c.9046T>A (p.Tyr3016Asn)
c.9043T>A (p.Tyr3015Asn)
c.2498T>A
n.9129T>A
19g.38510705T>CCA073096RYR1c.9046T>C (p.Tyr3016His)
c.9043T>C (p.Tyr3015His)
c.2498T>C
n.9129T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38510705T>GCA405683722RYR1c.9046T>G (p.Tyr3016Asp)
c.9043T>G (p.Tyr3015Asp)
c.2498T>G
n.9129T>G
19g.38510705T=CA2335058879RYR1c.9046T= (p.Tyr3016=)
c.9043T= (p.Tyr3015=)
c.2498T=
n.9129T=
19g.38510706A=CA2335058880RYR1c.9047A= (p.Tyr3016=)
c.9044A= (p.Tyr3015=)
c.2499A=
n.9130A=
19g.38510706A>CCA405683725RYR1c.9047A>C (p.Tyr3016Ser)
c.9044A>C (p.Tyr3015Ser)
c.2499A>C
n.9130A>C
19g.38510706A>GCA405683726RYR1c.9047A>G (p.Tyr3016Cys)
c.9044A>G (p.Tyr3015Cys)
c.2499A>G
n.9130A>G
 ClinVar dbSNP
19g.38510706A>TCA405683728RYR1c.9047A>T (p.Tyr3016Phe)
c.9044A>T (p.Tyr3015Phe)
c.2499A>T
n.9130A>T
19g.38510707T>ACA405683730RYR1c.9048T>A (p.Tyr3016Ter)
c.9045T>A (p.Tyr3015Ter)
c.2500T>A
n.9131T>A
19g.38510707T>CCA507246223RYR1c.9048T>C (p.Tyr3016=)
c.9045T>C (p.Tyr3015=)
c.2500T>C
n.9131T>C
19g.38510707T>GCA405683732RYR1c.9048T>G (p.Tyr3016Ter)
c.9045T>G (p.Tyr3015Ter)
c.2500T>G
n.9131T>G
19g.38510708T>ACA405683737RYR1c.9049T>A (p.Phe3017Ile)
c.9046T>A (p.Phe3016Ile)
c.2501T>A
n.9132T>A
19g.38510708T>CCA084318RYR1c.9049T>C (p.Phe3017Leu)
c.9046T>C (p.Phe3016Leu)
c.2501T>C
n.9132T>C
19g.38510708T>GCA405683734RYR1c.9049T>G (p.Phe3017Val)
c.9046T>G (p.Phe3016Val)
c.2501T>G
n.9132T>G
19g.38510709T>ACA405683738RYR1c.9050T>A (p.Phe3017Tyr)
c.9047T>A (p.Phe3016Tyr)
c.2502T>A
n.9133T>A
19g.38510709T>CCA405683739RYR1c.9050T>C (p.Phe3017Ser)
c.9047T>C (p.Phe3016Ser)
c.2502T>C
n.9133T>C
19g.38510709T>GCA405683741RYR1c.9050T>G (p.Phe3017Cys)
c.9047T>G (p.Phe3016Cys)
c.2502T>G
n.9133T>G
19g.38510710C>ACA405683744RYR1c.9051C>A (p.Phe3017Leu)
c.9048C>A (p.Phe3016Leu)
c.2503C>A
n.9134C>A
 gnomAD v4 COSMIC
19g.38510710C=CA2335058881RYR1c.9051C= (p.Phe3017=)
c.9048C= (p.Phe3016=)
c.2503C=
n.9134C=
19g.38510710C>GCA405683745RYR1c.9051C>G (p.Phe3017Leu)
c.9048C>G (p.Phe3016Leu)
c.2503C>G
n.9134C>G
19g.38510710C>TCA507246224RYR1c.9051C>T (p.Phe3017=)
c.9048C>T (p.Phe3016=)
c.2503C>T
n.9134C>T
 dbSNP gnomAD v3 gnomAD v4
19g.38510711T>ACA405683748RYR1c.9052T>A (p.Leu3018Met)
c.9049T>A (p.Leu3017Met)
c.2504T>A
n.9135T>A
19g.38510711T>CCA507246226RYR1c.9052T>C (p.Leu3018=)
c.9049T>C (p.Leu3017=)
c.2504T>C
n.9135T>C
 ClinVar dbSNP
19g.38510711T>GCA405683750RYR1c.9052T>G (p.Leu3018Val)
c.9049T>G (p.Leu3017Val)
c.2504T>G
n.9135T>G
19g.38510711T=CA2335058882RYR1c.9052T= (p.Leu3018=)
c.9049T= (p.Leu3017=)
c.2504T=
n.9135T=
19g.38510712T>ACA405683752RYR1c.9053T>A (p.Leu3018Ter)
c.9050T>A (p.Leu3017Ter)
c.2505T>A
n.9136T>A
19g.38510712T>CCA405683754RYR1c.9053T>C (p.Leu3018Ser)
c.9050T>C (p.Leu3017Ser)
c.2505T>C
n.9136T>C
19g.38510712T>GCA405683757RYR1c.9053T>G (p.Leu3018Trp)
c.9050T>G (p.Leu3017Trp)
c.2505T>G
n.9136T>G
19g.38510713G>ACA507246227RYR1c.9054G>A (p.Leu3018=)
c.9051G>A (p.Leu3017=)
c.2506G>A
n.9137G>A
19g.38510713G>CCA405683759RYR1c.9054G>C (p.Leu3018Phe)
c.9051G>C (p.Leu3017Phe)
c.2506G>C
n.9137G>C
19g.38510713G>TCA405683761RYR1c.9054G>T (p.Leu3018Phe)
c.9051G>T (p.Leu3017Phe)
c.2506G>T
n.9137G>T
19g.38510714T>ACA405683772RYR1c.9055T>A (p.Ser3019Thr)
c.9052T>A (p.Ser3018Thr)
c.2507T>A
n.9138T>A
19g.38510714T>CCA405683766RYR1c.9055T>C (p.Ser3019Pro)
c.9052T>C (p.Ser3018Pro)
c.2507T>C
n.9138T>C
19g.38510714T>GCA405683763RYR1c.9055T>G (p.Ser3019Ala)
c.9052T>G (p.Ser3018Ala)
c.2507T>G
n.9138T>G
19g.38510715C>ACA405683774RYR1c.9056C>A (p.Ser3019Tyr)
c.9053C>A (p.Ser3018Tyr)
c.2508C>A
n.9139C>A
19g.38510715C=CA2335058883RYR1c.9056C= (p.Ser3019=)
c.9053C= (p.Ser3018=)
c.2508C=
n.9139C=
19g.38510715C>GCA308123300RYR1c.9056C>G (p.Ser3019Cys)
c.9053C>G (p.Ser3018Cys)
c.2508C>G
n.9139C>G
 dbSNP gnomAD v3 gnomAD v4
19g.38510715C>TCA405683776RYR1c.9056C>T (p.Ser3019Phe)
c.9053C>T (p.Ser3018Phe)
c.2508C>T
n.9139C>T
19g.38510716C>ACA507246228RYR1c.9057C>A (p.Ser3019=)
c.9054C>A (p.Ser3018=)
c.2509C>A
n.9140C>A
19g.38510716C=CA2335058884RYR1c.9057C= (p.Ser3019=)
c.9054C= (p.Ser3018=)
c.2509C=
n.9140C=
19g.38510716C>GCA507246229RYR1c.9057C>G (p.Ser3019=)
c.9054C>G (p.Ser3018=)
c.2509C>G
n.9140C>G
19g.38510716C>TCA507246231RYR1c.9057C>T (p.Ser3019=)
c.9054C>T (p.Ser3018=)
c.2509C>T
n.9140C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38510717A>CCA405683777RYR1c.9058A>C (p.Thr3020Pro)
c.9055A>C (p.Thr3019Pro)
c.2510A>C
n.9141A>C
19g.38510717A>GCA405683778RYR1c.9058A>G (p.Thr3020Ala)
c.9055A>G (p.Thr3019Ala)
c.2510A>G
n.9141A>G
 COSMIC
19g.38510717A>TCA405683779RYR1c.9058A>T (p.Thr3020Ser)
c.9055A>T (p.Thr3019Ser)
c.2510A>T
n.9141A>T
 ClinVar
19g.38510718C>ACA405683780RYR1c.9059C>A (p.Thr3020Asn)
c.9056C>A (p.Thr3019Asn)
c.2511C>A
n.9142C>A
19g.38510718C>GCA405683781RYR1c.9059C>G (p.Thr3020Ser)
c.9056C>G (p.Thr3019Ser)
c.2511C>G
n.9142C>G
19g.38510718C>TCA405683782RYR1c.9059C>T (p.Thr3020Ile)
c.9056C>T (p.Thr3019Ile)
c.2511C>T
n.9142C>T
 gnomAD v4
19g.38510719T>ACA507246235RYR1c.9060T>A (p.Thr3020=)
c.9057T>A (p.Thr3019=)
c.2512T>A
n.9143T>A
19g.38510719T>CCA507246236RYR1c.9060T>C (p.Thr3020=)
c.9057T>C (p.Thr3019=)
c.2512T>C
n.9143T>C
19g.38510719T>GCA507246234RYR1c.9060T>G (p.Thr3020=)
c.9057T>G (p.Thr3019=)
c.2512T>G
n.9143T>G
19g.38510720C>ACA405683783RYR1c.9061C>A (p.Pro3021Thr)
c.9058C>A (p.Pro3020Thr)
c.2513C>A
n.9144C>A
19g.38510720C=CA2335058885RYR1c.9061C= (p.Pro3021=)
c.9058C= (p.Pro3020=)
c.2513C=
n.9144C=
19g.38510720C>GCA405683784RYR1c.9061C>G (p.Pro3021Ala)
c.9058C>G (p.Pro3020Ala)
c.2513C>G
n.9144C>G
19g.38510720C>TCA405683786RYR1c.9061C>T (p.Pro3021Ser)
c.9058C>T (p.Pro3020Ser)
c.2513C>T
n.9144C>T
 ClinVar dbSNP gnomAD v4
19g.38510721C>ACA405683791RYR1c.9062C>A (p.Pro3021Gln)
c.9059C>A (p.Pro3020Gln)
c.2514C>A
n.9145C>A
 gnomAD v4
19g.38510721C=CA2335058886RYR1c.9062C= (p.Pro3021=)
c.9059C= (p.Pro3020=)
c.2514C=
n.9145C=
19g.38510721C>GCA405683789RYR1c.9062C>G (p.Pro3021Arg)
c.9059C>G (p.Pro3020Arg)
c.2514C>G
n.9145C>G
19g.38510721C>TCA073098RYR1c.9062C>T (p.Pro3021Leu)
c.9059C>T (p.Pro3020Leu)
c.2514C>T
n.9145C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38510722G>ACA073102RYR1c.9063G>A (p.Pro3021=)
c.9060G>A (p.Pro3020=)
c.2515G>A
n.9146G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38510722G>CCA507246238RYR1c.9063G>C (p.Pro3021=)
c.9060G>C (p.Pro3020=)
c.2515G>C
n.9146G>C
19g.38510722G=CA2335058887RYR1c.9063G= (p.Pro3021=)
c.9060G= (p.Pro3020=)
c.2515G=
n.9146G=
19g.38510722G>TCA507246239RYR1c.9063G>T (p.Pro3021=)
c.9060G>T (p.Pro3020=)
c.2515G>T
n.9146G>T
19g.38510723G>ACA405683798RYR1c.9064G>A (p.Ala3022Thr)
c.9061G>A (p.Ala3021Thr)
c.2516G>A
n.9147G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38510723G>CCA405683800RYR1c.9064G>C (p.Ala3022Pro)
c.9061G>C (p.Ala3021Pro)
c.2516G>C
n.9147G>C
19g.38510723G=CA2335058888RYR1c.9064G= (p.Ala3022=)
c.9061G= (p.Ala3021=)
c.2516G=
n.9147G=
19g.38510723G>TCA405683802RYR1c.9064G>T (p.Ala3022Ser)
c.9061G>T (p.Ala3021Ser)
c.2516G>T
n.9147G>T
19g.38510724C>ACA405683804RYR1c.9065C>A (p.Ala3022Asp)
c.9062C>A (p.Ala3021Asp)
c.2517C>A
n.9148C>A
19g.38510724C>GCA405683805RYR1c.9065C>G (p.Ala3022Gly)
c.9062C>G (p.Ala3021Gly)
c.2517C>G
n.9148C>G
19g.38510724C>TCA084320RYR1c.9065C>T (p.Ala3022Val)
c.9062C>T (p.Ala3021Val)
c.2517C>T
n.9148C>T
19g.38510725T>ACA507246244RYR1c.9066T>A (p.Ala3022=)
c.9063T>A (p.Ala3021=)
c.2518T>A
n.9149T>A
19g.38510725T>CCA507246245RYR1c.9066T>C (p.Ala3022=)
c.9063T>C (p.Ala3021=)
c.2518T>C
n.9149T>C
 gnomAD v4
19g.38510725T>GCA507246246RYR1c.9066T>G (p.Ala3022=)
c.9063T>G (p.Ala3021=)
c.2518T>G
n.9149T>G
19g.38510726A>CCA405683807RYR1c.9067A>C (p.Lys3023Gln)
c.9064A>C (p.Lys3022Gln)
c.2519A>C
n.9150A>C
19g.38510726A>GCA405683809RYR1c.9067A>G (p.Lys3023Glu)
c.9064A>G (p.Lys3022Glu)
c.2519A>G
n.9150A>G
19g.38510726A>TCA405683810RYR1c.9067A>T (p.Lys3023Ter)
c.9064A>T (p.Lys3022Ter)
c.2519A>T
n.9150A>T
19g.38510727A>CCA405683812RYR1c.9068A>C (p.Lys3023Thr)
c.9065A>C (p.Lys3022Thr)
c.2520A>C
n.9151A>C
19g.38510727A>GCA405683813RYR1c.9068A>G (p.Lys3023Arg)
c.9065A>G (p.Lys3022Arg)
c.2520A>G
n.9151A>G
 COSMIC
19g.38510727A>TCA405683814RYR1c.9068A>T (p.Lys3023Ile)
c.9065A>T (p.Lys3022Ile)
c.2520A>T
n.9151A>T
19g.38510728A>CCA405683818RYR1c.9069A>C (p.Lys3023Asn)
c.9066A>C (p.Lys3022Asn)
c.2521A>C
n.9152A>C
19g.38510728A>GCA507246248RYR1c.9069A>G (p.Lys3023=)
c.9066A>G (p.Lys3022=)
c.2521A>G
n.9152A>G
 gnomAD v4
19g.38510728A>TCA405683816RYR1c.9069A>T (p.Lys3023Asn)
c.9066A>T (p.Lys3022Asn)
c.2521A>T
n.9152A>T
19g.38510729G>ACA073109RYR1c.9070G>A (p.Val3024Met)
c.9067G>A (p.Val3023Met)
c.2522G>A
n.9153G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38510729G>CCA405683821RYR1c.9070G>C (p.Val3024Leu)
c.9067G>C (p.Val3023Leu)
c.2522G>C
n.9153G>C
19g.38510729G=CA2335058889RYR1c.9070G= (p.Val3024=)
c.9067G= (p.Val3023=)
c.2522G=
n.9153G=
19g.38510729G>TCA405683822RYR1c.9070G>T (p.Val3024Leu)
c.9067G>T (p.Val3023Leu)
c.2522G>T
n.9153G>T
19g.38510730T>ACA405683825RYR1c.9071T>A (p.Val3024Glu)
c.9068T>A (p.Val3023Glu)
c.2523T>A
n.9154T>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38510730T>CCA405683826RYR1c.9071T>C (p.Val3024Ala)
c.9068T>C (p.Val3023Ala)
c.2523T>C
n.9154T>C
 ClinVar dbSNP
19g.38510730T>GCA405683828RYR1c.9071T>G (p.Val3024Gly)
c.9068T>G (p.Val3023Gly)
c.2523T>G
n.9154T>G
19g.38510730T=CA2335058890RYR1c.9071T= (p.Val3024=)
c.9068T= (p.Val3023=)
c.2523T=
n.9154T=
19g.38510731G>ACA507246251RYR1c.9072G>A (p.Val3024=)
c.9069G>A (p.Val3023=)
c.2524G>A
n.9155G>A
19g.38510731G>CCA507246253RYR1c.9072G>C (p.Val3024=)
c.9069G>C (p.Val3023=)
c.2524G>C
n.9155G>C
 dbSNP gnomAD v2
19g.38510731G=CA2335058891RYR1c.9072G= (p.Val3024=)
c.9069G= (p.Val3023=)
c.2524G=
n.9155G=
19g.38510731G>TCA507246252RYR1c.9072G>T (p.Val3024=)
c.9069G>T (p.Val3023=)
c.2524G>T
n.9155G>T
19g.38510732C>ACA405683829RYR1c.9073C>A (p.Leu3025Met)
c.9070C>A (p.Leu3024Met)
c.2525C>A
n.9156C>A
19g.38510732C>GCA405683830RYR1c.9073C>G (p.Leu3025Val)
c.9070C>G (p.Leu3024Val)
c.2525C>G
n.9156C>G
19g.38510732C>TCA507246254RYR1c.9073C>T (p.Leu3025=)
c.9070C>T (p.Leu3024=)
c.2525C>T
n.9156C>T
19g.38510733T>ACA405683831RYR1c.9074T>A (p.Leu3025Gln)
c.9071T>A (p.Leu3024Gln)
c.2526T>A
n.9157T>A
19g.38510733T>CCA405683833RYR1c.9074T>C (p.Leu3025Pro)
c.9071T>C (p.Leu3024Pro)
c.2526T>C
n.9157T>C
 dbSNP gnomAD v4
19g.38510733T>GCA405683832RYR1c.9074T>G (p.Leu3025Arg)
c.9071T>G (p.Leu3024Arg)
c.2526T>G
n.9157T>G
19g.38510733T=CA2335058892RYR1c.9074T= (p.Leu3025=)
c.9071T= (p.Leu3024=)
c.2526T=
n.9157T=
19g.38510736_38510745delCA2697556554RYR1c.9077_9086del (p.Gly3026AlafsTer10)
c.9074_9083del (p.Gly3025AlafsTer10)
c.2529_2538del
n.9160_9169del
 ClinVar
19g.38510734G>ACA073112RYR1c.9075G>A (p.Leu3025=)
c.9072G>A (p.Leu3024=)
c.2527G>A
n.9158G>A
 ClinVar dbSNP ExAC
19g.38510734G>CCA507246256RYR1c.9075G>C (p.Leu3025=)
c.9072G>C (p.Leu3024=)
c.2527G>C
n.9158G>C
19g.38510734G=CA2335058893RYR1c.9075G= (p.Leu3025=)
c.9072G= (p.Leu3024=)
c.2527G=
n.9158G=
19g.38510734G>TCA507246257RYR1c.9075G>T (p.Leu3025=)
c.9072G>T (p.Leu3024=)
c.2527G>T
n.9158G>T
19g.38510735G>ACA405683835RYR1c.9076G>A (p.Gly3026Ser)
c.9073G>A (p.Gly3025Ser)
c.2528G>A
n.9159G>A
19g.38510735G>CCA405683837RYR1c.9076G>C (p.Gly3026Arg)
c.9073G>C (p.Gly3025Arg)
c.2528G>C
n.9159G>C
19g.38510735G>TCA405683839RYR1c.9076G>T (p.Gly3026Cys)
c.9073G>T (p.Gly3025Cys)
c.2528G>T
n.9159G>T
19g.38510736G>ACA405683842RYR1c.9077G>A (p.Gly3026Asp)
c.9074G>A (p.Gly3025Asp)
c.2529G>A
n.9160G>A
19g.38510736G>CCA405683845RYR1c.9077G>C (p.Gly3026Ala)
c.9074G>C (p.Gly3025Ala)
c.2529G>C
n.9160G>C
19g.38510736G>TCA405683843RYR1c.9077G>T (p.Gly3026Val)
c.9074G>T (p.Gly3025Val)
c.2529G>T
n.9160G>T
19g.38510737C>ACA507246258RYR1c.9078C>A (p.Gly3026=)
c.9075C>A (p.Gly3025=)
c.2530C>A
n.9161C>A
19g.38510737C>GCA507246259RYR1c.9078C>G (p.Gly3026=)
c.9075C>G (p.Gly3025=)
c.2530C>G
n.9161C>G
19g.38510737C>TCA507246260RYR1c.9078C>T (p.Gly3026=)
c.9075C>T (p.Gly3025=)
c.2530C>T
n.9161C>T
19g.38510738A>CCA405683846RYR1c.9079A>C (p.Ser3027Arg)
c.9076A>C (p.Ser3026Arg)
c.2531A>C
n.9162A>C
19g.38510738A>GCA405683847RYR1c.9079A>G (p.Ser3027Gly)
c.9076A>G (p.Ser3026Gly)
c.2531A>G
n.9162A>G
19g.38510738A>TCA405683848RYR1c.9079A>T (p.Ser3027Cys)
c.9076A>T (p.Ser3026Cys)
c.2531A>T
n.9162A>T
19g.38510738dupCA2584902839RYR1c.9079dup (p.Ser3027LysfsTer7)
c.9076dup (p.Ser3026LysfsTer7)
c.2531dup
n.9162dup
 gnomAD v4
19g.38510739G>ACA405683850RYR1c.9080G>A (p.Ser3027Asn)
c.9077G>A (p.Ser3026Asn)
c.2532G>A
n.9163G>A
19g.38510739G>CCA405683852RYR1c.9080G>C (p.Ser3027Thr)
c.9077G>C (p.Ser3026Thr)
c.2532G>C
n.9163G>C
19g.38510739G>TCA405683854RYR1c.9080G>T (p.Ser3027Ile)
c.9077G>T (p.Ser3026Ile)
c.2532G>T
n.9163G>T
 COSMIC
19g.38510740C>ACA405683855RYR1c.9081C>A (p.Ser3027Arg)
c.9078C>A (p.Ser3026Arg)
c.2533C>A
n.9164C>A
 COSMIC
19g.38510740C=CA2335058894RYR1c.9081C= (p.Ser3027=)
c.9078C= (p.Ser3026=)
c.2533C=
n.9164C=
19g.38510740C>GCA405683862RYR1c.9081C>G (p.Ser3027Arg)
c.9078C>G (p.Ser3026Arg)
c.2533C>G
n.9164C>G
19g.38510740C>TCA073119RYR1c.9081C>T (p.Ser3027=)
c.9078C>T (p.Ser3026=)
c.2533C>T
n.9164C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38510741G>ACA073123RYR1c.9082G>A (p.Gly3028Ser)
c.9079G>A (p.Gly3027Ser)
c.2534G>A
n.9165G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38510741G>CCA405683866RYR1c.9082G>C (p.Gly3028Arg)
c.9079G>C (p.Gly3027Arg)
c.2534G>C
n.9165G>C
19g.38510741G=CA2335058895RYR1c.9082G= (p.Gly3028=)
c.9079G= (p.Gly3027=)
c.2534G=
n.9165G=
19g.38510741G>TCA405683868RYR1c.9082G>T (p.Gly3028Cys)
c.9079G>T (p.Gly3027Cys)
c.2534G>T
n.9165G>T
 ClinVar
19g.38510742G>ACA405683873RYR1c.9083G>A (p.Gly3028Asp)
c.9080G>A (p.Gly3027Asp)
c.2535G>A
n.9166G>A
19g.38510742G>CCA405683869RYR1c.9083G>C (p.Gly3028Ala)
c.9080G>C (p.Gly3027Ala)
c.2535G>C
n.9166G>C
 ClinVar
19g.38510742G>TCA405683871RYR1c.9083G>T (p.Gly3028Val)
c.9080G>T (p.Gly3027Val)
c.2535G>T
n.9166G>T
19g.38510742_38510743insACA2584902840RYR1c.9083_9084insA (p.Gly3029TrpfsTer5)
c.9080_9081insA (p.Gly3028TrpfsTer5)
c.2535_2536insA
n.9166_9167insA
 gnomAD v4
19g.38510743T>ACA507246264RYR1c.9084T>A (p.Gly3028=)
c.9081T>A (p.Gly3027=)
c.2536T>A
n.9167T>A
19g.38510743T>CCA507246265RYR1c.9084T>C (p.Gly3028=)
c.9081T>C (p.Gly3027=)
c.2536T>C
n.9167T>C
19g.38510743T>GCA507246266RYR1c.9084T>G (p.Gly3028=)
c.9081T>G (p.Gly3027=)
c.2536T>G
n.9167T>G
 gnomAD v4
19g.38510744G>ACA084332RYR1c.9085G>A (p.Gly3029Ser)
c.9082G>A (p.Gly3028Ser)
c.2537G>A
n.9168G>A
19g.38510744G>CCA405683876RYR1c.9085G>C (p.Gly3029Arg)
c.9082G>C (p.Gly3028Arg)
c.2537G>C
n.9168G>C
19g.38510744G>TCA405683878RYR1c.9085G>T (p.Gly3029Cys)
c.9082G>T (p.Gly3028Cys)
c.2537G>T
n.9168G>T
19g.38510745G>ACA405683880RYR1c.9086G>A (p.Gly3029Asp)
c.9083G>A (p.Gly3028Asp)
c.2538G>A
n.9169G>A
19g.38510745G>CCA405683882RYR1c.9086G>C (p.Gly3029Ala)
c.9083G>C (p.Gly3028Ala)
c.2538G>C
n.9169G>C
 dbSNP
19g.38510745G=CA2335058896RYR1c.9086G= (p.Gly3029=)
c.9083G= (p.Gly3028=)
c.2538G=
n.9169G=
19g.38510745G>TCA405683884RYR1c.9086G>T (p.Gly3029Val)
c.9083G>T (p.Gly3028Val)
c.2538G>T
n.9169G>T
19g.38510746C>ACA507246270RYR1c.9087C>A (p.Gly3029=)
c.9084C>A (p.Gly3028=)
c.2539C>A
n.9170C>A
19g.38510746C>GCA507246271RYR1c.9087C>G (p.Gly3029=)
c.9084C>G (p.Gly3028=)
c.2539C>G
n.9170C>G
19g.38510746C>TCA507246272RYR1c.9087C>T (p.Gly3029=)
c.9084C>T (p.Gly3028=)
c.2539C>T
n.9170C>T
 ClinVar
19g.38510747C>ACA405683892RYR1c.9088C>A (p.His3030Asn)
c.9085C>A (p.His3029Asn)
c.2540C>A
n.9171C>A
19g.38510747C>GCA405683888RYR1c.9088C>G (p.His3030Asp)
c.9085C>G (p.His3029Asp)
c.2540C>G
n.9171C>G
19g.38510747C>TCA405683886RYR1c.9088C>T (p.His3030Tyr)
c.9085C>T (p.His3029Tyr)
c.2540C>T
n.9171C>T
 ClinVar
19g.38510748A>CCA405683894RYR1c.9089A>C (p.His3030Pro)
c.9086A>C (p.His3029Pro)
c.2541A>C
n.9172A>C
19g.38510748A>GCA405683897RYR1c.9089A>G (p.His3030Arg)
c.9086A>G (p.His3029Arg)
c.2541A>G
n.9172A>G
19g.38510748A>TCA405683899RYR1c.9089A>T (p.His3030Leu)
c.9086A>T (p.His3029Leu)
c.2541A>T
n.9172A>T
19g.38510749C>ACA073127RYR1c.9090C>A (p.His3030Gln)
c.9087C>A (p.His3029Gln)
c.2542C>A
n.9173C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38510749C=CA2335058897RYR1c.9090C= (p.His3030=)
c.9087C= (p.His3029=)
c.2542C=
n.9173C=
19g.38510749C>GCA405683902RYR1c.9090C>G (p.His3030Gln)
c.9087C>G (p.His3029Gln)
c.2542C>G
n.9173C>G
19g.38510749C>TCA073131RYR1c.9090C>T (p.His3030=)
c.9087C>T (p.His3029=)
c.2542C>T
n.9173C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38510750G>ACA073133RYR1c.9091G>A (p.Ala3031Thr)
c.9088G>A (p.Ala3030Thr)
c.2543G>A
n.9174G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38510750G>CCA405683909RYR1c.9091G>C (p.Ala3031Pro)
c.9088G>C (p.Ala3030Pro)
c.2543G>C
n.9174G>C
19g.38510750G=CA2335058898RYR1c.9091G= (p.Ala3031=)
c.9088G= (p.Ala3030=)
c.2543G=
n.9174G=
19g.38510750G>TCA405683906RYR1c.9091G>T (p.Ala3031Ser)
c.9088G>T (p.Ala3030Ser)
c.2543G>T
n.9174G>T
19g.38510751C>ACA405683911RYR1c.9092C>A (p.Ala3031Asp)
c.9089C>A (p.Ala3030Asp)
c.2544C>A
n.9175C>A
19g.38510751C>GCA405683913RYR1c.9092C>G (p.Ala3031Gly)
c.9089C>G (p.Ala3030Gly)
c.2544C>G
n.9175C>G
19g.38510751C>TCA405683914RYR1c.9092C>T (p.Ala3031Val)
c.9089C>T (p.Ala3030Val)
c.2544C>T
n.9175C>T
19g.38510752C>ACA084335RYR1c.9093C>A (p.Ala3031=)
c.9090C>A (p.Ala3030=)
c.2545C>A
n.9176C>A
19g.38510752C=CA2335058899RYR1c.9093C= (p.Ala3031=)
c.9090C= (p.Ala3030=)
c.2545C=
n.9176C=
19g.38510752C>GCA507246274RYR1c.9093C>G (p.Ala3031=)
c.9090C>G (p.Ala3030=)
c.2545C>G
n.9176C>G
19g.38510752C>TCA073137RYR1c.9093C>T (p.Ala3031=)
c.9090C>T (p.Ala3030=)
c.2545C>T
n.9176C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched