Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38584974G>ACA024221RYR1c.1614G>A
c.3011G>A
c.2983G>A
n.71G>A
c.14678G>A (p.Arg4893Gln)
c.14663G>A (p.Arg4888Gln)
c.14660G>A (p.Arg4887Gln)
c.14645G>A (p.Arg4882Gln)
c.14675G>A (p.Arg4892Gln)
c.14591G>A (p.Arg4864Gln)
 ClinVar dbSNP
19g.38584974G>CCA024223RYR1c.1614G>C
c.3011G>C
c.2983G>C
n.71G>C
c.14678G>C (p.Arg4893Pro)
c.14663G>C (p.Arg4888Pro)
c.14660G>C (p.Arg4887Pro)
c.14645G>C (p.Arg4882Pro)
c.14675G>C (p.Arg4892Pro)
c.14591G>C (p.Arg4864Pro)
 ClinVar dbSNP
19g.38584974G=CA2335094939RYR1c.1614G=
c.3011G=
c.2983G=
n.71G=
c.14678G= (p.Arg4893=)
c.14663G= (p.Arg4888=)
c.14660G= (p.Arg4887=)
c.14645G= (p.Arg4882=)
c.14675G= (p.Arg4892=)
c.14591G= (p.Arg4864=)
19g.38584974G>TCA405690254RYR1c.1614G>T
c.3011G>T
c.2983G>T
n.71G>T
c.14678G>T (p.Arg4893Leu)
c.14663G>T (p.Arg4888Leu)
c.14660G>T (p.Arg4887Leu)
c.14645G>T (p.Arg4882Leu)
c.14675G>T (p.Arg4892Leu)
c.14591G>T (p.Arg4864Leu)
 ClinVar gnomAD v4
19g.38584975G>ACA507246325RYR1c.1615G>A
c.3012G>A
c.2984G>A
n.72G>A
c.14679G>A (p.Arg4893=)
c.14664G>A (p.Arg4888=)
c.14661G>A (p.Arg4887=)
c.14646G>A (p.Arg4882=)
c.14676G>A (p.Arg4892=)
c.14592G>A (p.Arg4864=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38584975G>CCA507246326RYR1c.1615G>C
c.3012G>C
c.2984G>C
n.72G>C
c.14679G>C (p.Arg4893=)
c.14664G>C (p.Arg4888=)
c.14661G>C (p.Arg4887=)
c.14646G>C (p.Arg4882=)
c.14676G>C (p.Arg4892=)
c.14592G>C (p.Arg4864=)
19g.38584975G=CA2335094940RYR1c.1615G=
c.3012G=
c.2984G=
n.72G=
c.14679G= (p.Arg4893=)
c.14664G= (p.Arg4888=)
c.14661G= (p.Arg4887=)
c.14646G= (p.Arg4882=)
c.14676G= (p.Arg4892=)
c.14592G= (p.Arg4864=)
19g.38584975G>TCA507246328RYR1c.1615G>T
c.3012G>T
c.2984G>T
n.72G>T
c.14679G>T (p.Arg4893=)
c.14664G>T (p.Arg4888=)
c.14661G>T (p.Arg4887=)
c.14646G>T (p.Arg4882=)
c.14676G>T (p.Arg4892=)
c.14592G>T (p.Arg4864=)
19g.38584976G>ACA024225RYR1c.1616G>A
c.3013G>A
c.2985G>A
n.73G>A
c.14680G>A (p.Ala4894Thr)
c.14665G>A (p.Ala4889Thr)
c.14662G>A (p.Ala4888Thr)
c.14647G>A (p.Ala4883Thr)
c.14677G>A (p.Ala4893Thr)
c.14593G>A (p.Ala4865Thr)
 ClinVar dbSNP
19g.38584976G>CCA024227RYR1c.1616G>C
c.3013G>C
c.2985G>C
n.73G>C
c.14680G>C (p.Ala4894Pro)
c.14665G>C (p.Ala4889Pro)
c.14662G>C (p.Ala4888Pro)
c.14647G>C (p.Ala4883Pro)
c.14677G>C (p.Ala4893Pro)
c.14593G>C (p.Ala4865Pro)
 ClinVar dbSNP
19g.38584976G=CA2335094941RYR1c.1616G=
c.3013G=
c.2985G=
n.73G=
c.14680G= (p.Ala4894=)
c.14665G= (p.Ala4889=)
c.14662G= (p.Ala4888=)
c.14647G= (p.Ala4883=)
c.14677G= (p.Ala4893=)
c.14593G= (p.Ala4865=)
19g.38584976G>TCA405690256RYR1c.1616G>T
c.3013G>T
c.2985G>T
n.73G>T
c.14680G>T (p.Ala4894Ser)
c.14665G>T (p.Ala4889Ser)
c.14662G>T (p.Ala4888Ser)
c.14647G>T (p.Ala4883Ser)
c.14677G>T (p.Ala4893Ser)
c.14593G>T (p.Ala4865Ser)
19g.38584977C>ACA405690259RYR1c.1617C>A
c.3014C>A
c.2986C>A
n.74C>A
c.14681C>A (p.Ala4894Asp)
c.14666C>A (p.Ala4889Asp)
c.14663C>A (p.Ala4888Asp)
c.14648C>A (p.Ala4883Asp)
c.14678C>A (p.Ala4893Asp)
c.14594C>A (p.Ala4865Asp)
 ClinVar dbSNP
19g.38584977C=CA2335094942RYR1c.1617C=
c.3014C=
c.2986C=
n.74C=
c.14681C= (p.Ala4894=)
c.14666C= (p.Ala4889=)
c.14663C= (p.Ala4888=)
c.14648C= (p.Ala4883=)
c.14678C= (p.Ala4893=)
c.14594C= (p.Ala4865=)
19g.38584977C>GCA405690261RYR1c.1617C>G
c.3014C>G
c.2986C>G
n.74C>G
c.14681C>G (p.Ala4894Gly)
c.14666C>G (p.Ala4889Gly)
c.14663C>G (p.Ala4888Gly)
c.14648C>G (p.Ala4883Gly)
c.14678C>G (p.Ala4893Gly)
c.14594C>G (p.Ala4865Gly)
19g.38584977C>TCA024229RYR1c.1617C>T
c.3014C>T
c.2986C>T
n.74C>T
c.14681C>T (p.Ala4894Val)
c.14666C>T (p.Ala4889Val)
c.14663C>T (p.Ala4888Val)
c.14648C>T (p.Ala4883Val)
c.14678C>T (p.Ala4893Val)
c.14594C>T (p.Ala4865Val)
 ClinVar dbSNP
19g.38584978T>ACA507246330RYR1c.1618T>A
c.3015T>A
c.2987T>A
n.75T>A
c.14682T>A (p.Ala4894=)
c.14667T>A (p.Ala4889=)
c.14664T>A (p.Ala4888=)
c.14649T>A (p.Ala4883=)
c.14679T>A (p.Ala4893=)
c.14595T>A (p.Ala4865=)
19g.38584978T>CCA507246332RYR1c.1618T>C
c.3015T>C
c.2987T>C
n.75T>C
c.14682T>C (p.Ala4894=)
c.14667T>C (p.Ala4889=)
c.14664T>C (p.Ala4888=)
c.14649T>C (p.Ala4883=)
c.14679T>C (p.Ala4893=)
c.14595T>C (p.Ala4865=)
 dbSNP gnomAD v2 gnomAD v4
19g.38584978T>GCA507246333RYR1c.1618T>G
c.3015T>G
c.2987T>G
n.75T>G
c.14682T>G (p.Ala4894=)
c.14667T>G (p.Ala4889=)
c.14664T>G (p.Ala4888=)
c.14649T>G (p.Ala4883=)
c.14679T>G (p.Ala4893=)
c.14595T>G (p.Ala4865=)
19g.38584978T=CA2335094943RYR1c.1618T=
c.3015T=
c.2987T=
n.75T=
c.14682T= (p.Ala4894=)
c.14667T= (p.Ala4889=)
c.14664T= (p.Ala4888=)
c.14649T= (p.Ala4883=)
c.14679T= (p.Ala4893=)
c.14595T= (p.Ala4865=)
19g.38584979G>ACA405690265RYR1c.1619G>A
c.3016G>A
c.2988G>A
n.76G>A
c.14683G>A (p.Gly4895Ser)
c.14668G>A (p.Gly4890Ser)
c.14665G>A (p.Gly4889Ser)
c.14650G>A (p.Gly4884Ser)
c.14680G>A (p.Gly4894Ser)
c.14596G>A (p.Gly4866Ser)
19g.38584979G>CCA405690266RYR1c.1619G>C
c.3016G>C
c.2988G>C
n.76G>C
c.14683G>C (p.Gly4895Arg)
c.14668G>C (p.Gly4890Arg)
c.14665G>C (p.Gly4889Arg)
c.14650G>C (p.Gly4884Arg)
c.14680G>C (p.Gly4894Arg)
c.14596G>C (p.Gly4866Arg)
19g.38584979G>TCA405690267RYR1c.1619G>T
c.3016G>T
c.2988G>T
n.76G>T
c.14683G>T (p.Gly4895Cys)
c.14668G>T (p.Gly4890Cys)
c.14665G>T (p.Gly4889Cys)
c.14650G>T (p.Gly4884Cys)
c.14680G>T (p.Gly4894Cys)
c.14596G>T (p.Gly4866Cys)
19g.38584980G>ACA405690268RYR1c.1620G>A
c.3017G>A
c.2989G>A
n.77G>A
c.14684G>A (p.Gly4895Asp)
c.14669G>A (p.Gly4890Asp)
c.14666G>A (p.Gly4889Asp)
c.14651G>A (p.Gly4884Asp)
c.14681G>A (p.Gly4894Asp)
c.14597G>A (p.Gly4866Asp)
 COSMIC
19g.38584980G>CCA405690269RYR1c.1620G>C
c.3017G>C
c.2989G>C
n.77G>C
c.14684G>C (p.Gly4895Ala)
c.14669G>C (p.Gly4890Ala)
c.14666G>C (p.Gly4889Ala)
c.14651G>C (p.Gly4884Ala)
c.14681G>C (p.Gly4894Ala)
c.14597G>C (p.Gly4866Ala)
19g.38584980G=CA2335094944RYR1c.1620G=
c.3017G=
c.2989G=
n.77G=
c.14684G= (p.Gly4895=)
c.14669G= (p.Gly4890=)
c.14666G= (p.Gly4889=)
c.14651G= (p.Gly4884=)
c.14681G= (p.Gly4894=)
c.14597G= (p.Gly4866=)
19g.38584980G>TCA405690270RYR1c.1620G>T
c.3017G>T
c.2989G>T
n.77G>T
c.14684G>T (p.Gly4895Val)
c.14669G>T (p.Gly4890Val)
c.14666G>T (p.Gly4889Val)
c.14651G>T (p.Gly4884Val)
c.14681G>T (p.Gly4894Val)
c.14597G>T (p.Gly4866Val)
 ClinVar dbSNP
19g.38584981C>ACA507246335RYR1c.1621C>A
c.3018C>A
c.2990C>A
n.78C>A
c.14685C>A (p.Gly4895=)
c.14670C>A (p.Gly4890=)
c.14667C>A (p.Gly4889=)
c.14652C>A (p.Gly4884=)
c.14682C>A (p.Gly4894=)
c.14598C>A (p.Gly4866=)
19g.38584981C=CA2335094945RYR1c.1621C=
c.3018C=
c.2990C=
n.78C=
c.14685C= (p.Gly4895=)
c.14670C= (p.Gly4890=)
c.14667C= (p.Gly4889=)
c.14652C= (p.Gly4884=)
c.14682C= (p.Gly4894=)
c.14598C= (p.Gly4866=)
19g.38584981C>GCA507246336RYR1c.1621C>G
c.3018C>G
c.2990C>G
n.78C>G
c.14685C>G (p.Gly4895=)
c.14670C>G (p.Gly4890=)
c.14667C>G (p.Gly4889=)
c.14652C>G (p.Gly4884=)
c.14682C>G (p.Gly4894=)
c.14598C>G (p.Gly4866=)
19g.38584981C>TCA061513RYR1c.1621C>T
c.3018C>T
c.2990C>T
n.78C>T
c.14685C>T (p.Gly4895=)
c.14670C>T (p.Gly4890=)
c.14667C>T (p.Gly4889=)
c.14652C>T (p.Gly4884=)
c.14682C>T (p.Gly4894=)
c.14598C>T (p.Gly4866=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38584982G>ACA405690275RYR1c.1622G>A
c.3019G>A
c.2991G>A
n.79G>A
c.14686G>A (p.Gly4896Arg)
c.14671G>A (p.Gly4891Arg)
c.14668G>A (p.Gly4890Arg)
c.14653G>A (p.Gly4885Arg)
c.14683G>A (p.Gly4895Arg)
c.14599G>A (p.Gly4867Arg)
 ClinVar dbSNP gnomAD v4 COSMIC
19g.38584982G>CCA405690279RYR1c.1622G>C
c.3019G>C
c.2991G>C
n.79G>C
c.14686G>C (p.Gly4896Arg)
c.14671G>C (p.Gly4891Arg)
c.14668G>C (p.Gly4890Arg)
c.14653G>C (p.Gly4885Arg)
c.14683G>C (p.Gly4895Arg)
c.14599G>C (p.Gly4867Arg)
19g.38584982G=CA2335094946RYR1c.1622G=
c.3019G=
c.2991G=
n.79G=
c.14686G= (p.Gly4896=)
c.14671G= (p.Gly4891=)
c.14668G= (p.Gly4890=)
c.14653G= (p.Gly4885=)
c.14683G= (p.Gly4895=)
c.14599G= (p.Gly4867=)
19g.38584982G>TCA405690281RYR1c.1622G>T
c.3019G>T
c.2991G>T
n.79G>T
c.14686G>T (p.Gly4896Ter)
c.14671G>T (p.Gly4891Ter)
c.14668G>T (p.Gly4890Ter)
c.14653G>T (p.Gly4885Ter)
c.14683G>T (p.Gly4895Ter)
c.14599G>T (p.Gly4867Ter)
19g.38584983G>ACA405690282RYR1c.1623G>A
c.3020G>A
c.2992G>A
n.80G>A
c.14687G>A (p.Gly4896Glu)
c.14672G>A (p.Gly4891Glu)
c.14669G>A (p.Gly4890Glu)
c.14654G>A (p.Gly4885Glu)
c.14684G>A (p.Gly4895Glu)
c.14600G>A (p.Gly4867Glu)
 ClinVar dbSNP
19g.38584983G>CCA405690286RYR1c.1623G>C
c.3020G>C
c.2992G>C
n.80G>C
c.14687G>C (p.Gly4896Ala)
c.14672G>C (p.Gly4891Ala)
c.14669G>C (p.Gly4890Ala)
c.14654G>C (p.Gly4885Ala)
c.14684G>C (p.Gly4895Ala)
c.14600G>C (p.Gly4867Ala)
19g.38584983G=CA2335094947RYR1c.1623G=
c.3020G=
c.2992G=
n.80G=
c.14687G= (p.Gly4896=)
c.14672G= (p.Gly4891=)
c.14669G= (p.Gly4890=)
c.14654G= (p.Gly4885=)
c.14684G= (p.Gly4895=)
c.14600G= (p.Gly4867=)
19g.38584983G>TCA405690284RYR1c.1623G>T
c.3020G>T
c.2992G>T
n.80G>T
c.14687G>T (p.Gly4896Val)
c.14672G>T (p.Gly4891Val)
c.14669G>T (p.Gly4890Val)
c.14654G>T (p.Gly4885Val)
c.14684G>T (p.Gly4895Val)
c.14600G>T (p.Gly4867Val)
19g.38584984A>CCA507246338RYR1c.1624A>C
c.3021A>C
c.2993A>C
n.81A>C
c.14688A>C (p.Gly4896=)
c.14673A>C (p.Gly4891=)
c.14670A>C (p.Gly4890=)
c.14655A>C (p.Gly4885=)
c.14685A>C (p.Gly4895=)
c.14601A>C (p.Gly4867=)
19g.38584984A>GCA507246339RYR1c.1624A>G
c.3021A>G
c.2993A>G
n.81A>G
c.14688A>G (p.Gly4896=)
c.14673A>G (p.Gly4891=)
c.14670A>G (p.Gly4890=)
c.14655A>G (p.Gly4885=)
c.14685A>G (p.Gly4895=)
c.14601A>G (p.Gly4867=)
19g.38584984A>TCA507246340RYR1c.1624A>T
c.3021A>T
c.2993A>T
n.81A>T
c.14688A>T (p.Gly4896=)
c.14673A>T (p.Gly4891=)
c.14670A>T (p.Gly4890=)
c.14655A>T (p.Gly4885=)
c.14685A>T (p.Gly4895=)
c.14601A>T (p.Gly4867=)
19g.38584985G>ACA405690288RYR1c.1625G>A
c.3022G>A
c.2994G>A
n.82G>A
c.14689G>A (p.Gly4897Ser)
c.14674G>A (p.Gly4892Ser)
c.14671G>A (p.Gly4891Ser)
c.14656G>A (p.Gly4886Ser)
c.14686G>A (p.Gly4896Ser)
c.14602G>A (p.Gly4868Ser)
19g.38584985G>CCA405690289RYR1c.1625G>C
c.3022G>C
c.2994G>C
n.82G>C
c.14689G>C (p.Gly4897Arg)
c.14674G>C (p.Gly4892Arg)
c.14671G>C (p.Gly4891Arg)
c.14656G>C (p.Gly4886Arg)
c.14686G>C (p.Gly4896Arg)
c.14602G>C (p.Gly4868Arg)
19g.38584985G>TCA405690290RYR1c.1625G>T
c.3022G>T
c.2994G>T
n.82G>T
c.14689G>T (p.Gly4897Cys)
c.14674G>T (p.Gly4892Cys)
c.14671G>T (p.Gly4891Cys)
c.14656G>T (p.Gly4886Cys)
c.14686G>T (p.Gly4896Cys)
c.14602G>T (p.Gly4868Cys)
19g.38584986G>ACA405690291RYR1c.1626G>A
c.3023G>A
c.2995G>A
n.83G>A
c.14690G>A (p.Gly4897Asp)
c.14675G>A (p.Gly4892Asp)
c.14672G>A (p.Gly4891Asp)
c.14657G>A (p.Gly4886Asp)
c.14687G>A (p.Gly4896Asp)
c.14603G>A (p.Gly4868Asp)
 ClinVar dbSNP
19g.38584986G>CCA405690292RYR1c.1626G>C
c.3023G>C
c.2995G>C
n.83G>C
c.14690G>C (p.Gly4897Ala)
c.14675G>C (p.Gly4892Ala)
c.14672G>C (p.Gly4891Ala)
c.14657G>C (p.Gly4886Ala)
c.14687G>C (p.Gly4896Ala)
c.14603G>C (p.Gly4868Ala)
19g.38584986G=CA2335094948RYR1c.1626G=
c.3023G=
c.2995G=
n.83G=
c.14690G= (p.Gly4897=)
c.14675G= (p.Gly4892=)
c.14672G= (p.Gly4891=)
c.14657G= (p.Gly4886=)
c.14687G= (p.Gly4896=)
c.14603G= (p.Gly4868=)
19g.38584986G>TCA024231RYR1c.1626G>T
c.3023G>T
c.2995G>T
n.83G>T
c.14690G>T (p.Gly4897Val)
c.14675G>T (p.Gly4892Val)
c.14672G>T (p.Gly4891Val)
c.14657G>T (p.Gly4886Val)
c.14687G>T (p.Gly4896Val)
c.14603G>T (p.Gly4868Val)
 ClinVar dbSNP
19g.38584987C>ACA507246343RYR1c.1627C>A
c.3024C>A
c.2996C>A
n.84C>A
c.14691C>A (p.Gly4897=)
c.14676C>A (p.Gly4892=)
c.14673C>A (p.Gly4891=)
c.14658C>A (p.Gly4886=)
c.14688C>A (p.Gly4896=)
c.14604C>A (p.Gly4868=)

Number of alleles fetched