Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38512321G>ACA024976RYR1c.9249G>A (n.9249G>A)
c.9310G>A (p.Glu3104Lys)
c.9307G>A (p.Glu3103Lys)
c.2712G>A
c.117G>A
n.9343G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.38512321G>CCA405686720RYR1c.9249G>C (n.9249G>C)
c.9310G>C (p.Glu3104Gln)
c.9307G>C (p.Glu3103Gln)
c.2712G>C
c.117G>C
n.9343G>C
 gnomAD v4
19g.38512321G=CA2335059634RYR1c.9249G= (n.9249G=)
c.9310G= (p.Glu3104=)
c.9307G= (p.Glu3103=)
c.2712G=
c.117G=
n.9343G=
19g.38512321G>TCA405686722RYR1c.9249G>T (n.9249G>T)
c.9310G>T (p.Glu3104Ter)
c.9307G>T (p.Glu3103Ter)
c.2712G>T
c.117G>T
n.9343G>T
19g.38512323_38512324dupCA882060841RYR1c.9251_9252dup (n.9251_9252dup)
c.9312_9313dup (p.Lys3105ArgfsTer19)
c.9309_9310dup (p.Lys3104ArgfsTer19)
c.2714_2715dup
c.119_120dup
n.9345_9346dup
 dbSNP gnomAD v3 gnomAD v4
19g.38512322A>CCA405686738RYR1c.9250A>C (n.9250A>C)
c.9311A>C (p.Glu3104Ala)
c.9308A>C (p.Glu3103Ala)
c.2713A>C
c.118A>C
n.9344A>C
19g.38512322A>GCA405686741RYR1c.9250A>G (n.9250A>G)
c.9311A>G (p.Glu3104Gly)
c.9308A>G (p.Glu3103Gly)
c.2713A>G
c.118A>G
n.9344A>G
19g.38512322A>TCA405686724RYR1c.9250A>T (n.9250A>T)
c.9311A>T (p.Glu3104Val)
c.9308A>T (p.Glu3103Val)
c.2713A>T
c.118A>T
n.9344A>T
19g.38512323G>ACA507354397RYR1c.9251G>A (n.9251G>A)
c.9312G>A (p.Glu3104=)
c.9309G>A (p.Glu3103=)
c.2714G>A
c.119G>A
n.9345G>A
19g.38512323G>CCA405686747RYR1c.9251G>C (n.9251G>C)
c.9312G>C (p.Glu3104Asp)
c.9309G>C (p.Glu3103Asp)
c.2714G>C
c.119G>C
n.9345G>C
19g.38512323G>TCA405686749RYR1c.9251G>T (n.9251G>T)
c.9312G>T (p.Glu3104Asp)
c.9309G>T (p.Glu3103Asp)
c.2714G>T
c.119G>T
n.9345G>T
19g.38512324A>CCA405686754RYR1c.9252A>C (n.9252A>C)
c.9313A>C (p.Lys3105Gln)
c.9310A>C (p.Lys3104Gln)
c.2715A>C
c.120A>C
n.9346A>C
19g.38512324A>GCA405686763RYR1c.9252A>G (n.9252A>G)
c.9313A>G (p.Lys3105Glu)
c.9310A>G (p.Lys3104Glu)
c.2715A>G
c.120A>G
n.9346A>G
19g.38512324A>TCA405686766RYR1c.9252A>T (n.9252A>T)
c.9313A>T (p.Lys3105Ter)
c.9310A>T (p.Lys3104Ter)
c.2715A>T
c.120A>T
n.9346A>T
19g.38512325A>CCA405686771RYR1c.9253A>C (n.9253A>C)
c.9314A>C (p.Lys3105Thr)
c.9311A>C (p.Lys3104Thr)
c.2716A>C
c.121A>C
n.9347A>C
19g.38512325A>GCA405686769RYR1c.9253A>G (n.9253A>G)
c.9314A>G (p.Lys3105Arg)
c.9311A>G (p.Lys3104Arg)
c.2716A>G
c.121A>G
n.9347A>G
19g.38512325A>TCA405686770RYR1c.9253A>T (n.9253A>T)
c.9314A>T (p.Lys3105Met)
c.9311A>T (p.Lys3104Met)
c.2716A>T
c.121A>T
n.9347A>T
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

Number of alleles fetched