Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38585948C>ACA507246582RYR1c.1750C>A
c.3147C>A
c.3119C>A
n.207C>A
c.14814C>A (p.Ile4938=)
c.14799C>A (p.Ile4933=)
c.14796C>A (p.Ile4932=)
c.14781C>A (p.Ile4927=)
c.14811C>A (p.Ile4937=)
c.14727C>A (p.Ile4909=)
19g.38585948C=CA2335095492RYR1c.1750C=
c.3147C=
c.3119C=
n.207C=
c.14814C= (p.Ile4938=)
c.14799C= (p.Ile4933=)
c.14796C= (p.Ile4932=)
c.14781C= (p.Ile4927=)
c.14811C= (p.Ile4937=)
c.14727C= (p.Ile4909=)
19g.38585948C>GCA024260RYR1c.1750C>G
c.3147C>G
c.3119C>G
n.207C>G
c.14814C>G (p.Ile4938Met)
c.14799C>G (p.Ile4933Met)
c.14796C>G (p.Ile4932Met)
c.14781C>G (p.Ile4927Met)
c.14811C>G (p.Ile4937Met)
c.14727C>G (p.Ile4909Met)
 ClinVar dbSNP
19g.38585948C>TCA061686RYR1c.1750C>T
c.3147C>T
c.3119C>T
n.207C>T
c.14814C>T (p.Ile4938=)
c.14799C>T (p.Ile4933=)
c.14796C>T (p.Ile4932=)
c.14781C>T (p.Ile4927=)
c.14811C>T (p.Ile4937=)
c.14727C>T (p.Ile4909=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38585949G>ACA024262RYR1c.1751G>A
c.3148G>A
c.3120G>A
n.208G>A
c.14815G>A (p.Asp4939Asn)
c.14800G>A (p.Asp4934Asn)
c.14797G>A (p.Asp4933Asn)
c.14782G>A (p.Asp4928Asn)
c.14812G>A (p.Asp4938Asn)
c.14728G>A (p.Asp4910Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38585949G>CCA405692191RYR1c.1751G>C
c.3148G>C
c.3120G>C
n.208G>C
c.14815G>C (p.Asp4939His)
c.14800G>C (p.Asp4934His)
c.14797G>C (p.Asp4933His)
c.14782G>C (p.Asp4928His)
c.14812G>C (p.Asp4938His)
c.14728G>C (p.Asp4910His)
19g.38585949G=CA2335095493RYR1c.1751G=
c.3148G=
c.3120G=
n.208G=
c.14815G= (p.Asp4939=)
c.14800G= (p.Asp4934=)
c.14797G= (p.Asp4933=)
c.14782G= (p.Asp4928=)
c.14812G= (p.Asp4938=)
c.14728G= (p.Asp4910=)
19g.38585949G>TCA405692192RYR1c.1751G>T
c.3148G>T
c.3120G>T
n.208G>T
c.14815G>T (p.Asp4939Tyr)
c.14800G>T (p.Asp4934Tyr)
c.14797G>T (p.Asp4933Tyr)
c.14782G>T (p.Asp4928Tyr)
c.14812G>T (p.Asp4938Tyr)
c.14728G>T (p.Asp4910Tyr)
 ClinVar
19g.38585950A>CCA405692195RYR1c.1752A>C
c.3149A>C
c.3121A>C
n.209A>C
c.14816A>C (p.Asp4939Ala)
c.14801A>C (p.Asp4934Ala)
c.14798A>C (p.Asp4933Ala)
c.14783A>C (p.Asp4928Ala)
c.14813A>C (p.Asp4938Ala)
c.14729A>C (p.Asp4910Ala)
19g.38585950A>GCA405692197RYR1c.1752A>G
c.3149A>G
c.3121A>G
n.209A>G
c.14816A>G (p.Asp4939Gly)
c.14801A>G (p.Asp4934Gly)
c.14798A>G (p.Asp4933Gly)
c.14783A>G (p.Asp4928Gly)
c.14813A>G (p.Asp4938Gly)
c.14729A>G (p.Asp4910Gly)
19g.38585950A>TCA405692196RYR1c.1752A>T
c.3149A>T
c.3121A>T
n.209A>T
c.14816A>T (p.Asp4939Val)
c.14801A>T (p.Asp4934Val)
c.14798A>T (p.Asp4933Val)
c.14783A>T (p.Asp4928Val)
c.14813A>T (p.Asp4938Val)
c.14729A>T (p.Asp4910Val)
19g.38585951C>ACA024264RYR1c.1753C>A
c.3150C>A
c.3122C>A
n.210C>A
c.14817C>A (p.Asp4939Glu)
c.14802C>A (p.Asp4934Glu)
c.14799C>A (p.Asp4933Glu)
c.14784C>A (p.Asp4928Glu)
c.14814C>A (p.Asp4938Glu)
c.14730C>A (p.Asp4910Glu)
 ClinVar dbSNP COSMIC
19g.38585951C=CA2335095494RYR1c.1753C=
c.3150C=
c.3122C=
n.210C=
c.14817C= (p.Asp4939=)
c.14802C= (p.Asp4934=)
c.14799C= (p.Asp4933=)
c.14784C= (p.Asp4928=)
c.14814C= (p.Asp4938=)
c.14730C= (p.Asp4910=)
19g.38585951C>GCA405692199RYR1c.1753C>G
c.3150C>G
c.3122C>G
n.210C>G
c.14817C>G (p.Asp4939Glu)
c.14802C>G (p.Asp4934Glu)
c.14799C>G (p.Asp4933Glu)
c.14784C>G (p.Asp4928Glu)
c.14814C>G (p.Asp4938Glu)
c.14730C>G (p.Asp4910Glu)
 ClinVar dbSNP
19g.38585951C>TCA061698RYR1c.1753C>T
c.3150C>T
c.3122C>T
n.210C>T
c.14817C>T (p.Asp4939=)
c.14802C>T (p.Asp4934=)
c.14799C>T (p.Asp4933=)
c.14784C>T (p.Asp4928=)
c.14814C>T (p.Asp4938=)
c.14730C>T (p.Asp4910=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38585952G>ACA024266RYR1c.1754G>A
c.3151G>A
c.3123G>A
n.211G>A
c.14818G>A (p.Ala4940Thr)
c.14803G>A (p.Ala4935Thr)
c.14800G>A (p.Ala4934Thr)
c.14785G>A (p.Ala4929Thr)
c.14815G>A (p.Ala4939Thr)
c.14731G>A (p.Ala4911Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38585952G>CCA405692204RYR1c.1754G>C
c.3151G>C
c.3123G>C
n.211G>C
c.14818G>C (p.Ala4940Pro)
c.14803G>C (p.Ala4935Pro)
c.14800G>C (p.Ala4934Pro)
c.14785G>C (p.Ala4929Pro)
c.14815G>C (p.Ala4939Pro)
c.14731G>C (p.Ala4911Pro)
19g.38585952G=CA2335095495RYR1c.1754G=
c.3151G=
c.3123G=
n.211G=
c.14818G= (p.Ala4940=)
c.14803G= (p.Ala4935=)
c.14800G= (p.Ala4934=)
c.14785G= (p.Ala4929=)
c.14815G= (p.Ala4939=)
c.14731G= (p.Ala4911=)
19g.38585952G>TCA405692210RYR1c.1754G>T
c.3151G>T
c.3123G>T
n.211G>T
c.14818G>T (p.Ala4940Ser)
c.14803G>T (p.Ala4935Ser)
c.14800G>T (p.Ala4934Ser)
c.14785G>T (p.Ala4929Ser)
c.14815G>T (p.Ala4939Ser)
c.14731G>T (p.Ala4911Ser)
 gnomAD v4
19g.38585953C>ACA405692230RYR1c.1755C>A
c.3152C>A
c.3124C>A
n.212C>A
c.14819C>A (p.Ala4940Asp)
c.14804C>A (p.Ala4935Asp)
c.14801C>A (p.Ala4934Asp)
c.14786C>A (p.Ala4929Asp)
c.14816C>A (p.Ala4939Asp)
c.14732C>A (p.Ala4911Asp)
19g.38585953C=CA2335095496RYR1c.1755C=
c.3152C=
c.3124C=
n.212C=
c.14819C= (p.Ala4940=)
c.14804C= (p.Ala4935=)
c.14801C= (p.Ala4934=)
c.14786C= (p.Ala4929=)
c.14816C= (p.Ala4939=)
c.14732C= (p.Ala4911=)
19g.38585953C>GCA405692233RYR1c.1755C>G
c.3152C>G
c.3124C>G
n.212C>G
c.14819C>G (p.Ala4940Gly)
c.14804C>G (p.Ala4935Gly)
c.14801C>G (p.Ala4934Gly)
c.14786C>G (p.Ala4929Gly)
c.14816C>G (p.Ala4939Gly)
c.14732C>G (p.Ala4911Gly)
19g.38585953C>TCA405692238RYR1c.1755C>T
c.3152C>T
c.3124C>T
n.212C>T
c.14819C>T (p.Ala4940Val)
c.14804C>T (p.Ala4935Val)
c.14801C>T (p.Ala4934Val)
c.14786C>T (p.Ala4929Val)
c.14816C>T (p.Ala4939Val)
c.14732C>T (p.Ala4911Val)
 ClinVar dbSNP
19g.38585954T>ACA507246583RYR1c.1756T>A
c.3153T>A
c.3125T>A
n.213T>A
c.14820T>A (p.Ala4940=)
c.14805T>A (p.Ala4935=)
c.14802T>A (p.Ala4934=)
c.14787T>A (p.Ala4929=)
c.14817T>A (p.Ala4939=)
c.14733T>A (p.Ala4911=)
19g.38585954T>CCA507246584RYR1c.1756T>C
c.3153T>C
c.3125T>C
n.213T>C
c.14820T>C (p.Ala4940=)
c.14805T>C (p.Ala4935=)
c.14802T>C (p.Ala4934=)
c.14787T>C (p.Ala4929=)
c.14817T>C (p.Ala4939=)
c.14733T>C (p.Ala4911=)
19g.38585954T>GCA507246585RYR1c.1756T>G
c.3153T>G
c.3125T>G
n.213T>G
c.14820T>G (p.Ala4940=)
c.14805T>G (p.Ala4935=)
c.14802T>G (p.Ala4934=)
c.14787T>G (p.Ala4929=)
c.14817T>G (p.Ala4939=)
c.14733T>G (p.Ala4911=)
19g.38585955T>ACA405692239RYR1c.1757T>A
c.3154T>A
c.3126T>A
n.214T>A
c.14821T>A (p.Phe4941Ile)
c.14806T>A (p.Phe4936Ile)
c.14803T>A (p.Phe4935Ile)
c.14788T>A (p.Phe4930Ile)
c.14818T>A (p.Phe4940Ile)
c.14734T>A (p.Phe4912Ile)
19g.38585955T>CCA405692240RYR1c.1757T>C
c.3154T>C
c.3126T>C
n.214T>C
c.14821T>C (p.Phe4941Leu)
c.14806T>C (p.Phe4936Leu)
c.14803T>C (p.Phe4935Leu)
c.14788T>C (p.Phe4930Leu)
c.14818T>C (p.Phe4940Leu)
c.14734T>C (p.Phe4912Leu)
19g.38585955T>GCA405692241RYR1c.1757T>G
c.3154T>G
c.3126T>G
n.214T>G
c.14821T>G (p.Phe4941Val)
c.14806T>G (p.Phe4936Val)
c.14803T>G (p.Phe4935Val)
c.14788T>G (p.Phe4930Val)
c.14818T>G (p.Phe4940Val)
c.14734T>G (p.Phe4912Val)
19g.38585956T>ACA405692245RYR1c.1758T>A
c.3155T>A
c.3127T>A
n.215T>A
c.14822T>A (p.Phe4941Tyr)
c.14807T>A (p.Phe4936Tyr)
c.14804T>A (p.Phe4935Tyr)
c.14789T>A (p.Phe4930Tyr)
c.14819T>A (p.Phe4940Tyr)
c.14735T>A (p.Phe4912Tyr)
19g.38585956T>CCA405692251RYR1c.1758T>C
c.3155T>C
c.3127T>C
n.215T>C
c.14822T>C (p.Phe4941Ser)
c.14807T>C (p.Phe4936Ser)
c.14804T>C (p.Phe4935Ser)
c.14789T>C (p.Phe4930Ser)
c.14819T>C (p.Phe4940Ser)
c.14735T>C (p.Phe4912Ser)
19g.38585956T>GCA405692249RYR1c.1758T>G
c.3155T>G
c.3127T>G
n.215T>G
c.14822T>G (p.Phe4941Cys)
c.14807T>G (p.Phe4936Cys)
c.14804T>G (p.Phe4935Cys)
c.14789T>G (p.Phe4930Cys)
c.14819T>G (p.Phe4940Cys)
c.14735T>G (p.Phe4912Cys)
 ClinVar dbSNP
19g.38585956T=CA2335095497RYR1c.1758T=
c.3155T=
c.3127T=
n.215T=
c.14822T= (p.Phe4941=)
c.14807T= (p.Phe4936=)
c.14804T= (p.Phe4935=)
c.14789T= (p.Phe4930=)
c.14819T= (p.Phe4940=)
c.14735T= (p.Phe4912=)
19g.38585957T>ACA405692255RYR1c.1759T>A
c.3156T>A
c.3128T>A
n.216T>A
c.14823T>A (p.Phe4941Leu)
c.14808T>A (p.Phe4936Leu)
c.14805T>A (p.Phe4935Leu)
c.14790T>A (p.Phe4930Leu)
c.14820T>A (p.Phe4940Leu)
c.14736T>A (p.Phe4912Leu)
19g.38585957T>CCA507246586RYR1c.1759T>C
c.3156T>C
c.3128T>C
n.216T>C
c.14823T>C (p.Phe4941=)
c.14808T>C (p.Phe4936=)
c.14805T>C (p.Phe4935=)
c.14790T>C (p.Phe4930=)
c.14820T>C (p.Phe4940=)
c.14736T>C (p.Phe4912=)
19g.38585957T>GCA405692256RYR1c.1759T>G
c.3156T>G
c.3128T>G
n.216T>G
c.14823T>G (p.Phe4941Leu)
c.14808T>G (p.Phe4936Leu)
c.14805T>G (p.Phe4935Leu)
c.14790T>G (p.Phe4930Leu)
c.14820T>G (p.Phe4940Leu)
c.14736T>G (p.Phe4912Leu)
19g.38585958G>ACA405692259RYR1c.1760G>A
c.3157G>A
c.3129G>A
n.217G>A
c.14824G>A (p.Gly4942Ser)
c.14809G>A (p.Gly4937Ser)
c.14806G>A (p.Gly4936Ser)
c.14791G>A (p.Gly4931Ser)
c.14821G>A (p.Gly4941Ser)
c.14737G>A (p.Gly4913Ser)
19g.38585958G>CCA405692260RYR1c.1760G>C
c.3157G>C
c.3129G>C
n.217G>C
c.14824G>C (p.Gly4942Arg)
c.14809G>C (p.Gly4937Arg)
c.14806G>C (p.Gly4936Arg)
c.14791G>C (p.Gly4931Arg)
c.14821G>C (p.Gly4941Arg)
c.14737G>C (p.Gly4913Arg)
19g.38585958G>TCA405692261RYR1c.1760G>T
c.3157G>T
c.3129G>T
n.217G>T
c.14824G>T (p.Gly4942Cys)
c.14809G>T (p.Gly4937Cys)
c.14806G>T (p.Gly4936Cys)
c.14791G>T (p.Gly4931Cys)
c.14821G>T (p.Gly4941Cys)
c.14737G>T (p.Gly4913Cys)
19g.38585959G>ACA405692262RYR1c.1761G>A
c.3158G>A
c.3130G>A
n.218G>A
c.14825G>A (p.Gly4942Asp)
c.14810G>A (p.Gly4937Asp)
c.14807G>A (p.Gly4936Asp)
c.14792G>A (p.Gly4931Asp)
c.14822G>A (p.Gly4941Asp)
c.14738G>A (p.Gly4913Asp)
19g.38585959G>CCA405692263RYR1c.1761G>C
c.3158G>C
c.3130G>C
n.218G>C
c.14825G>C (p.Gly4942Ala)
c.14810G>C (p.Gly4937Ala)
c.14807G>C (p.Gly4936Ala)
c.14792G>C (p.Gly4931Ala)
c.14822G>C (p.Gly4941Ala)
c.14738G>C (p.Gly4913Ala)
19g.38585959G=CA2335095498RYR1c.1761G=
c.3158G=
c.3130G=
n.218G=
c.14825G= (p.Gly4942=)
c.14810G= (p.Gly4937=)
c.14807G= (p.Gly4936=)
c.14792G= (p.Gly4931=)
c.14822G= (p.Gly4941=)
c.14738G= (p.Gly4913=)
19g.38585959G>TCA024268RYR1c.1761G>T
c.3158G>T
c.3130G>T
n.218G>T
c.14825G>T (p.Gly4942Val)
c.14810G>T (p.Gly4937Val)
c.14807G>T (p.Gly4936Val)
c.14792G>T (p.Gly4931Val)
c.14822G>T (p.Gly4941Val)
c.14738G>T (p.Gly4913Val)
 ClinVar dbSNP
19g.38585960T>ACA507246589RYR1c.1762T>A
c.3159T>A
c.3131T>A
n.219T>A
c.14826T>A (p.Gly4942=)
c.14811T>A (p.Gly4937=)
c.14808T>A (p.Gly4936=)
c.14793T>A (p.Gly4931=)
c.14823T>A (p.Gly4941=)
c.14739T>A (p.Gly4913=)
19g.38585960T>CCA507246588RYR1c.1762T>C
c.3159T>C
c.3131T>C
n.219T>C
c.14826T>C (p.Gly4942=)
c.14811T>C (p.Gly4937=)
c.14808T>C (p.Gly4936=)
c.14793T>C (p.Gly4931=)
c.14823T>C (p.Gly4941=)
c.14739T>C (p.Gly4913=)
19g.38585960T>GCA507246587RYR1c.1762T>G
c.3159T>G
c.3131T>G
n.219T>G
c.14826T>G (p.Gly4942=)
c.14811T>G (p.Gly4937=)
c.14808T>G (p.Gly4936=)
c.14793T>G (p.Gly4931=)
c.14823T>G (p.Gly4941=)
c.14739T>G (p.Gly4913=)
19g.38585961G>ACA405692266RYR1c.1763G>A
c.3160G>A
c.3132G>A
n.220G>A
c.14827G>A (p.Glu4943Lys)
c.14812G>A (p.Glu4938Lys)
c.14809G>A (p.Glu4937Lys)
c.14794G>A (p.Glu4932Lys)
c.14824G>A (p.Glu4942Lys)
c.14740G>A (p.Glu4914Lys)
19g.38585961G>CCA405692268RYR1c.1763G>C
c.3160G>C
c.3132G>C
n.220G>C
c.14827G>C (p.Glu4943Gln)
c.14812G>C (p.Glu4938Gln)
c.14809G>C (p.Glu4937Gln)
c.14794G>C (p.Glu4932Gln)
c.14824G>C (p.Glu4942Gln)
c.14740G>C (p.Glu4914Gln)
19g.38585961G>TCA405692274RYR1c.1763G>T
c.3160G>T
c.3132G>T
n.220G>T
c.14827G>T (p.Glu4943Ter)
c.14812G>T (p.Glu4938Ter)
c.14809G>T (p.Glu4937Ter)
c.14794G>T (p.Glu4932Ter)
c.14824G>T (p.Glu4942Ter)
c.14740G>T (p.Glu4914Ter)
19g.38585962A>CCA405692275RYR1c.1764A>C
c.3161A>C
c.3133A>C
n.221A>C
c.14828A>C (p.Glu4943Ala)
c.14813A>C (p.Glu4938Ala)
c.14810A>C (p.Glu4937Ala)
c.14795A>C (p.Glu4932Ala)
c.14825A>C (p.Glu4942Ala)
c.14741A>C (p.Glu4914Ala)

Number of alleles fetched