Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38512326G>ACA507354399RYR1c.9254G>A (n.9254G>A)
c.9315G>A (p.Lys3105=)
c.9312G>A (p.Lys3104=)
c.2717G>A
c.122G>A
n.9348G>A
19g.38512326G>CCA405686773RYR1c.9254G>C (n.9254G>C)
c.9315G>C (p.Lys3105Asn)
c.9312G>C (p.Lys3104Asn)
c.2717G>C
c.122G>C
n.9348G>C
19g.38512326G>TCA405686775RYR1c.9254G>T (n.9254G>T)
c.9315G>T (p.Lys3105Asn)
c.9312G>T (p.Lys3104Asn)
c.2717G>T
c.122G>T
n.9348G>T
19g.38512327A=CA2335059635RYR1c.9255A= (n.9255A=)
c.9316A= (p.Met3106=)
c.9313A= (p.Met3105=)
c.2718A=
c.123A=
n.9349A=
19g.38512327A>CCA405686781RYR1c.9255A>C (n.9255A>C)
c.9316A>C (p.Met3106Leu)
c.9313A>C (p.Met3105Leu)
c.2718A>C
c.123A>C
n.9349A>C
19g.38512327A>GCA405686786RYR1c.9255A>G (n.9255A>G)
c.9316A>G (p.Met3106Val)
c.9313A>G (p.Met3105Val)
c.2718A>G
c.123A>G
n.9349A>G
19g.38512327A>TCA405686788RYR1c.9255A>T (n.9255A>T)
c.9316A>T (p.Met3106Leu)
c.9313A>T (p.Met3105Leu)
c.2718A>T
c.123A>T
n.9349A>T
 dbSNP
19g.38512328T>ACA405686803RYR1c.9256T>A (n.9256T>A)
c.9317T>A (p.Met3106Lys)
c.9314T>A (p.Met3105Lys)
c.2719T>A
c.124T>A
n.9350T>A
19g.38512328T>CCA405686808RYR1c.9256T>C (n.9256T>C)
c.9317T>C (p.Met3106Thr)
c.9314T>C (p.Met3105Thr)
c.2719T>C
c.124T>C
n.9350T>C
19g.38512328T>GCA405686805RYR1c.9256T>G (n.9256T>G)
c.9317T>G (p.Met3106Arg)
c.9314T>G (p.Met3105Arg)
c.2719T>G
c.124T>G
n.9350T>G
19g.38512329G>ACA405686812RYR1c.9257G>A (n.9257G>A)
c.9318G>A (p.Met3106Ile)
c.9315G>A (p.Met3105Ile)
c.2720G>A
c.125G>A
n.9351G>A
 dbSNP
19g.38512329G>CCA405686814RYR1c.9257G>C (n.9257G>C)
c.9318G>C (p.Met3106Ile)
c.9315G>C (p.Met3105Ile)
c.2720G>C
c.125G>C
n.9351G>C
19g.38512329G=CA2335059636RYR1c.9257G= (n.9257G=)
c.9318G= (p.Met3106=)
c.9315G= (p.Met3105=)
c.2720G=
c.125G=
n.9351G=
19g.38512329G>TCA405686819RYR1c.9257G>T (n.9257G>T)
c.9318G>T (p.Met3106Ile)
c.9315G>T (p.Met3105Ile)
c.2720G>T
c.125G>T
n.9351G>T
19g.38512330G>ACA405686826RYR1c.9258G>A (n.9258G>A)
c.9319G>A (p.Val3107Met)
c.9316G>A (p.Val3106Met)
c.2721G>A
c.126G>A
n.9352G>A
19g.38512330G>CCA405686831RYR1c.9258G>C (n.9258G>C)
c.9319G>C (p.Val3107Leu)
c.9316G>C (p.Val3106Leu)
c.2721G>C
c.126G>C
n.9352G>C
19g.38512330G>TCA405686834RYR1c.9258G>T (n.9258G>T)
c.9319G>T (p.Val3107Leu)
c.9316G>T (p.Val3106Leu)
c.2721G>T
c.126G>T
n.9352G>T
19g.38512331T>ACA405686837RYR1c.9259T>A (n.9259T>A)
c.9320T>A (p.Val3107Glu)
c.9317T>A (p.Val3106Glu)
c.2722T>A
c.127T>A
n.9353T>A
19g.38512331T>CCA405686840RYR1c.9259T>C (n.9259T>C)
c.9320T>C (p.Val3107Ala)
c.9317T>C (p.Val3106Ala)
c.2722T>C
c.127T>C
n.9353T>C
19g.38512331T>GCA405686843RYR1c.9259T>G (n.9259T>G)
c.9320T>G (p.Val3107Gly)
c.9317T>G (p.Val3106Gly)
c.2722T>G
c.127T>G
n.9353T>G
19g.38512332G>ACA507354410RYR1c.9260G>A (n.9260G>A)
c.9321G>A (p.Val3107=)
c.9318G>A (p.Val3106=)
c.2723G>A
c.128G>A
n.9354G>A
19g.38512332G>CCA507354409RYR1c.9260G>C (n.9260G>C)
c.9321G>C (p.Val3107=)
c.9318G>C (p.Val3106=)
c.2723G>C
c.128G>C
n.9354G>C
19g.38512332G>TCA507354408RYR1c.9260G>T (n.9260G>T)
c.9321G>T (p.Val3107=)
c.9318G>T (p.Val3106=)
c.2723G>T
c.128G>T
n.9354G>T
19g.38512333G>ACA405686851RYR1c.9261G>A (n.9261G>A)
c.9322G>A (p.Glu3108Lys)
c.9319G>A (p.Glu3107Lys)
c.2724G>A
c.129G>A
n.9355G>A
19g.38512333G>CCA405686863RYR1c.9261G>C (n.9261G>C)
c.9322G>C (p.Glu3108Gln)
c.9319G>C (p.Glu3107Gln)
c.2724G>C
c.129G>C
n.9355G>C
19g.38512333G>TCA405686867RYR1c.9261G>T (n.9261G>T)
c.9322G>T (p.Glu3108Ter)
c.9319G>T (p.Glu3107Ter)
c.2724G>T
c.129G>T
n.9355G>T
19g.38512334A>CCA405686872RYR1c.9262A>C (n.9262A>C)
c.9323A>C (p.Glu3108Ala)
c.9320A>C (p.Glu3107Ala)
c.2725A>C
c.130A>C
n.9356A>C
19g.38512334A>GCA405686876RYR1c.9262A>G (n.9262A>G)
c.9323A>G (p.Glu3108Gly)
c.9320A>G (p.Glu3107Gly)
c.2725A>G
c.130A>G
n.9356A>G
19g.38512334A>TCA405686870RYR1c.9262A>T (n.9262A>T)
c.9323A>T (p.Glu3108Val)
c.9320A>T (p.Glu3107Val)
c.2725A>T
c.130A>T
n.9356A>T
19g.38512335G>ACA507354414RYR1c.9263G>A (n.9263G>A)
c.9324G>A (p.Glu3108=)
c.9321G>A (p.Glu3107=)
c.2726G>A
c.131G>A
n.9357G>A
19g.38512335G>CCA405686884RYR1c.9263G>C (n.9263G>C)
c.9324G>C (p.Glu3108Asp)
c.9321G>C (p.Glu3107Asp)
c.2726G>C
c.131G>C
n.9357G>C
19g.38512335G>TCA405686881RYR1c.9263G>T (n.9263G>T)
c.9324G>T (p.Glu3108Asp)
c.9321G>T (p.Glu3107Asp)
c.2726G>T
c.131G>T
n.9357G>T
19g.38512336A>CCA405686892RYR1c.9264A>C (n.9264A>C)
c.9325A>C (p.Asn3109His)
c.9322A>C (p.Asn3108His)
c.2727A>C
c.132A>C
n.9358A>C
19g.38512336A>GCA405686894RYR1c.9264A>G (n.9264A>G)
c.9325A>G (p.Asn3109Asp)
c.9322A>G (p.Asn3108Asp)
c.2727A>G
c.132A>G
n.9358A>G
 ClinVar
19g.38512336A>TCA405686897RYR1c.9264A>T (n.9264A>T)
c.9325A>T (p.Asn3109Tyr)
c.9322A>T (p.Asn3108Tyr)
c.2727A>T
c.132A>T
n.9358A>T
19g.38512337A>CCA405686901RYR1c.9265A>C (n.9265A>C)
c.9326A>C (p.Asn3109Thr)
c.9323A>C (p.Asn3108Thr)
c.2728A>C
c.133A>C
n.9359A>C
19g.38512337A>GCA405686904RYR1c.9265A>G (n.9265A>G)
c.9326A>G (p.Asn3109Ser)
c.9323A>G (p.Asn3108Ser)
c.2728A>G
c.133A>G
n.9359A>G
19g.38512337A>TCA405686907RYR1c.9265A>T (n.9265A>T)
c.9326A>T (p.Asn3109Ile)
c.9323A>T (p.Asn3108Ile)
c.2728A>T
c.133A>T
n.9359A>T
19g.38512338C>ACA405686910RYR1c.9266C>A (n.9266C>A)
c.9327C>A (p.Asn3109Lys)
c.9324C>A (p.Asn3108Lys)
c.2729C>A
c.134C>A
n.9360C>A
19g.38512338C=CA2335059637RYR1c.9266C= (n.9266C=)
c.9327C= (p.Asn3109=)
c.9324C= (p.Asn3108=)
c.2729C=
c.134C=
n.9360C=
19g.38512338C>GCA405686913RYR1c.9266C>G (n.9266C>G)
c.9327C>G (p.Asn3109Lys)
c.9324C>G (p.Asn3108Lys)
c.2729C>G
c.134C>G
n.9360C>G
19g.38512338C>TCA073489RYR1c.9266C>T (n.9266C>T)
c.9327C>T (p.Asn3109=)
c.9324C>T (p.Asn3108=)
c.2729C>T
c.134C>T
n.9360C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38512339C>ACA405686921RYR1c.9267C>A (n.9267C>A)
c.9328C>A (p.Leu3110Met)
c.9325C>A (p.Leu3109Met)
c.2730C>A
c.135C>A
n.9361C>A
19g.38512339C>GCA405686925RYR1c.9267C>G (n.9267C>G)
c.9328C>G (p.Leu3110Val)
c.9325C>G (p.Leu3109Val)
c.2730C>G
c.135C>G
n.9361C>G
19g.38512339C>TCA507354418RYR1c.9267C>T (n.9267C>T)
c.9328C>T (p.Leu3110=)
c.9325C>T (p.Leu3109=)
c.2730C>T
c.135C>T
n.9361C>T
19g.38512340T>ACA405686933RYR1c.9268T>A (n.9268T>A)
c.9329T>A (p.Leu3110Gln)
c.9326T>A (p.Leu3109Gln)
c.2731T>A
c.136T>A
n.9362T>A
19g.38512340T>CCA405686929RYR1c.9268T>C (n.9268T>C)
c.9329T>C (p.Leu3110Pro)
c.9326T>C (p.Leu3109Pro)
c.2731T>C
c.136T>C
n.9362T>C
 gnomAD v4
19g.38512340T>GCA405686931RYR1c.9268T>G (n.9268T>G)
c.9329T>G (p.Leu3110Arg)
c.9326T>G (p.Leu3109Arg)
c.2731T>G
c.136T>G
n.9362T>G
19g.38512341G>ACA507354421RYR1c.9269G>A (n.9269G>A)
c.9330G>A (p.Leu3110=)
c.9327G>A (p.Leu3109=)
c.2732G>A
c.137G>A
n.9363G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38512341G>CCA507354422RYR1c.9269G>C (n.9269G>C)
c.9330G>C (p.Leu3110=)
c.9327G>C (p.Leu3109=)
c.2732G>C
c.137G>C
n.9363G>C

Number of alleles fetched