Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38543334_38543335delCA057483RYR1c.100-13_100-12del
c.82-13_82-12del
c.11690-13_11690-12del (n.11690-13_11690-12del)
c.11675-13_11675-12del (n.11675-13_11675-12del)
c.11672-13_11672-12del (n.11672-13_11672-12del)
c.299-13_299-12del
c.5059-13_5059-12del
c.11657-13_11657-12del (n.11657-13_11657-12del)
c.11687-13_11687-12del (n.11687-13_11687-12del)
 dbSNP ExAC
19g.38543334T>CCA2584908078RYR1c.100-13T>C
c.82-13T>C
c.11690-13T>C (n.11690-13T>C)
c.11675-13T>C (n.11675-13T>C)
c.11672-13T>C (n.11672-13T>C)
c.299-13T>C
c.5059-13T>C
c.11657-13T>C (n.11657-13T>C)
c.11687-13T>C (n.11687-13T>C)
 gnomAD v4
19g.38543335T=CA2335074295RYR1c.100-12T=
c.82-12T=
c.11690-12T= (n.11690-12T=)
c.11675-12T= (n.11675-12T=)
c.11672-12T= (n.11672-12T=)
c.299-12T=
c.5059-12T=
c.11657-12T= (n.11657-12T=)
c.11687-12T= (n.11687-12T=)
19g.38543336C>ACA633066747RYR1c.100-11C>A
c.82-11C>A
c.11690-11C>A (n.11690-11C>A)
c.11675-11C>A (n.11675-11C>A)
c.11672-11C>A (n.11672-11C>A)
c.299-11C>A
c.5059-11C>A
c.11657-11C>A (n.11657-11C>A)
c.11687-11C>A (n.11687-11C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38543336C=CA2335074296RYR1c.100-11C=
c.82-11C=
c.11690-11C= (n.11690-11C=)
c.11675-11C= (n.11675-11C=)
c.11672-11C= (n.11672-11C=)
c.299-11C=
c.5059-11C=
c.11657-11C= (n.11657-11C=)
c.11687-11C= (n.11687-11C=)
19g.38543336C>TCA2814346122RYR1c.100-11C>T
c.82-11C>T
c.11690-11C>T (n.11690-11C>T)
c.11675-11C>T (n.11675-11C>T)
c.11672-11C>T (n.11672-11C>T)
c.299-11C>T
c.5059-11C>T
c.11657-11C>T (n.11657-11C>T)
c.11687-11C>T (n.11687-11C>T)
19g.38543336dupCA633066746RYR1c.100-11dup
c.82-11dup
c.11690-11dup (n.11690-11dup)
c.11675-11dup (n.11675-11dup)
c.11672-11dup (n.11672-11dup)
c.299-11dup
c.5059-11dup
c.11657-11dup (n.11657-11dup)
c.11687-11dup (n.11687-11dup)
 dbSNP gnomAD v2 gnomAD v4
19g.38543339C>ACA2697556578RYR1c.100-8C>A
c.82-8C>A
c.11690-8C>A (n.11690-8C>A)
c.11675-8C>A (n.11675-8C>A)
c.11672-8C>A (n.11672-8C>A)
c.299-8C>A
c.5059-8C>A
c.11657-8C>A (n.11657-8C>A)
c.11687-8C>A (n.11687-8C>A)
 ClinVar
19g.38543339C=CA2335074297RYR1c.100-8C=
c.82-8C=
c.11690-8C= (n.11690-8C=)
c.11675-8C= (n.11675-8C=)
c.11672-8C= (n.11672-8C=)
c.299-8C=
c.5059-8C=
c.11657-8C= (n.11657-8C=)
c.11687-8C= (n.11687-8C=)
19g.38543339C>GCA633066748RYR1c.100-8C>G
c.82-8C>G
c.11690-8C>G (n.11690-8C>G)
c.11675-8C>G (n.11675-8C>G)
c.11672-8C>G (n.11672-8C>G)
c.299-8C>G
c.5059-8C>G
c.11657-8C>G (n.11657-8C>G)
c.11687-8C>G (n.11687-8C>G)
 dbSNP gnomAD v2 gnomAD v4
19g.38543341C>ACA2584908080RYR1c.100-6C>A
c.82-6C>A
c.11690-6C>A (n.11690-6C>A)
c.11675-6C>A (n.11675-6C>A)
c.11672-6C>A (n.11672-6C>A)
c.299-6C>A
c.5059-6C>A
c.11657-6C>A (n.11657-6C>A)
c.11687-6C>A (n.11687-6C>A)
 gnomAD v4
19g.38543344delCA2584908079RYR1c.100-3del
c.82-3del
c.11690-3del (n.11690-3del)
c.11675-3del (n.11675-3del)
c.11672-3del (n.11672-3del)
c.299-3del
c.5059-3del
c.11657-3del (n.11657-3del)
c.11687-3del (n.11687-3del)
 ClinVar gnomAD v4
19g.38543342C=CA2335074298RYR1c.100-5C=
c.82-5C=
c.11690-5C= (n.11690-5C=)
c.11675-5C= (n.11675-5C=)
c.11672-5C= (n.11672-5C=)
c.299-5C=
c.5059-5C=
c.11657-5C= (n.11657-5C=)
c.11687-5C= (n.11687-5C=)
19g.38543342C>GCA057523RYR1c.100-5C>G
c.82-5C>G
c.11690-5C>G (n.11690-5C>G)
c.11675-5C>G (n.11675-5C>G)
c.11672-5C>G (n.11672-5C>G)
c.299-5C>G
c.5059-5C>G
c.11657-5C>G (n.11657-5C>G)
c.11687-5C>G (n.11687-5C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38543343C=CA2335074299RYR1c.100-4C=
c.82-4C=
c.11690-4C= (n.11690-4C=)
c.11675-4C= (n.11675-4C=)
c.11672-4C= (n.11672-4C=)
c.299-4C=
c.5059-4C=
c.11657-4C= (n.11657-4C=)
c.11687-4C= (n.11687-4C=)
19g.38543343C>GCA995728661RYR1c.100-4C>G
c.82-4C>G
c.11690-4C>G (n.11690-4C>G)
c.11675-4C>G (n.11675-4C>G)
c.11672-4C>G (n.11672-4C>G)
c.299-4C>G
c.5059-4C>G
c.11657-4C>G (n.11657-4C>G)
c.11687-4C>G (n.11687-4C>G)
 dbSNP gnomAD v3 gnomAD v4
19g.38543344C=CA2335074300RYR1c.100-3C=
c.82-3C=
c.11690-3C= (n.11690-3C=)
c.11675-3C= (n.11675-3C=)
c.11672-3C= (n.11672-3C=)
c.299-3C=
c.5059-3C=
c.11657-3C= (n.11657-3C=)
c.11687-3C= (n.11687-3C=)
19g.38543344C>GCA2584908081RYR1c.100-3C>G
c.82-3C>G
c.11690-3C>G (n.11690-3C>G)
c.11675-3C>G (n.11675-3C>G)
c.11672-3C>G (n.11672-3C>G)
c.299-3C>G
c.5059-3C>G
c.11657-3C>G (n.11657-3C>G)
c.11687-3C>G (n.11687-3C>G)
 gnomAD v4
19g.38543344C>TCA882060486RYR1c.100-3C>T
c.82-3C>T
c.11690-3C>T (n.11690-3C>T)
c.11675-3C>T (n.11675-3C>T)
c.11672-3C>T (n.11672-3C>T)
c.299-3C>T
c.5059-3C>T
c.11657-3C>T (n.11657-3C>T)
c.11687-3C>T (n.11687-3C>T)
 dbSNP gnomAD v3 gnomAD v4
19g.38543345A>CCA405661040RYR1c.100-2A>C
c.82-2A>C
c.11690-2A>C (n.11690-2A>C)
c.11675-2A>C (n.11675-2A>C)
c.11672-2A>C (n.11672-2A>C)
c.299-2A>C
c.5059-2A>C
c.11657-2A>C (n.11657-2A>C)
c.11687-2A>C (n.11687-2A>C)
 ClinVar dbSNP
19g.38543345A>GCA405661038RYR1c.100-2A>G
c.82-2A>G
c.11690-2A>G (n.11690-2A>G)
c.11675-2A>G (n.11675-2A>G)
c.11672-2A>G (n.11672-2A>G)
c.299-2A>G
c.5059-2A>G
c.11657-2A>G (n.11657-2A>G)
c.11687-2A>G (n.11687-2A>G)
19g.38543345A>TCA405661036RYR1c.100-2A>T
c.82-2A>T
c.11690-2A>T (n.11690-2A>T)
c.11675-2A>T (n.11675-2A>T)
c.11672-2A>T (n.11672-2A>T)
c.299-2A>T
c.5059-2A>T
c.11657-2A>T (n.11657-2A>T)
c.11687-2A>T (n.11687-2A>T)
19g.38543346G>ACA405661042RYR1c.100-1G>A
c.82-1G>A
c.11690-1G>A (n.11690-1G>A)
c.11675-1G>A (n.11675-1G>A)
c.11672-1G>A (n.11672-1G>A)
c.299-1G>A
c.5059-1G>A
c.11657-1G>A (n.11657-1G>A)
c.11687-1G>A (n.11687-1G>A)
19g.38543346G>CCA405661044RYR1c.100-1G>C
c.82-1G>C
c.11690-1G>C (n.11690-1G>C)
c.11675-1G>C (n.11675-1G>C)
c.11672-1G>C (n.11672-1G>C)
c.299-1G>C
c.5059-1G>C
c.11657-1G>C (n.11657-1G>C)
c.11687-1G>C (n.11687-1G>C)
19g.38543346G>TCA405661046RYR1c.100-1G>T
c.82-1G>T
c.11690-1G>T (n.11690-1G>T)
c.11675-1G>T (n.11675-1G>T)
c.11672-1G>T (n.11672-1G>T)
c.299-1G>T
c.5059-1G>T
c.11657-1G>T (n.11657-1G>T)
c.11687-1G>T (n.11687-1G>T)
19g.38543347A=CA2335074301RYR1c.100A=
c.82A=
c.11690A= (p.Asp3897=)
c.11675A= (p.Asp3892=)
c.11672A= (p.Asp3891=)
c.299A=
c.5059A=
c.11657A= (p.Asp3886=)
c.11687A= (p.Asp3896=)
19g.38543347A>CCA405661048RYR1c.100A>C
c.82A>C
c.11690A>C (p.Asp3897Ala)
c.11675A>C (p.Asp3892Ala)
c.11672A>C (p.Asp3891Ala)
c.299A>C
c.5059A>C
c.11657A>C (p.Asp3886Ala)
c.11687A>C (p.Asp3896Ala)
19g.38543347A>GCA405661050RYR1c.100A>G
c.82A>G
c.11690A>G (p.Asp3897Gly)
c.11675A>G (p.Asp3892Gly)
c.11672A>G (p.Asp3891Gly)
c.299A>G
c.5059A>G
c.11657A>G (p.Asp3886Gly)
c.11687A>G (p.Asp3896Gly)
 dbSNP gnomAD v3 gnomAD v4
19g.38543347A>TCA405661052RYR1c.100A>T
c.82A>T
c.11690A>T (p.Asp3897Val)
c.11675A>T (p.Asp3892Val)
c.11672A>T (p.Asp3891Val)
c.299A>T
c.5059A>T
c.11657A>T (p.Asp3886Val)
c.11687A>T (p.Asp3896Val)
19g.38543348T>ACA405661054RYR1c.101T>A
c.83T>A
c.11691T>A (p.Asp3897Glu)
c.11676T>A (p.Asp3892Glu)
c.11673T>A (p.Asp3891Glu)
c.300T>A
c.5060T>A
c.11658T>A (p.Asp3886Glu)
c.11688T>A (p.Asp3896Glu)
19g.38543348T>CCA057527RYR1c.101T>C
c.83T>C
c.11691T>C (p.Asp3897=)
c.11676T>C (p.Asp3892=)
c.11673T>C (p.Asp3891=)
c.300T>C
c.5060T>C
c.11658T>C (p.Asp3886=)
c.11688T>C (p.Asp3896=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38543348T>GCA405661057RYR1c.101T>G
c.83T>G
c.11691T>G (p.Asp3897Glu)
c.11676T>G (p.Asp3892Glu)
c.11673T>G (p.Asp3891Glu)
c.300T>G
c.5060T>G
c.11658T>G (p.Asp3886Glu)
c.11688T>G (p.Asp3896Glu)
19g.38543348T=CA2335074302RYR1c.101T=
c.83T=
c.11691T= (p.Asp3897=)
c.11676T= (p.Asp3892=)
c.11673T= (p.Asp3891=)
c.300T=
c.5060T=
c.11658T= (p.Asp3886=)
c.11688T= (p.Asp3896=)
19g.38543349T>ACA405661059RYR1c.102T>A
c.84T>A
c.11692T>A (p.Phe3898Ile)
c.11677T>A (p.Phe3893Ile)
c.11674T>A (p.Phe3892Ile)
c.301T>A
c.5061T>A
c.11659T>A (p.Phe3887Ile)
c.11689T>A (p.Phe3897Ile)
19g.38543349T>CCA405661062RYR1c.102T>C
c.84T>C
c.11692T>C (p.Phe3898Leu)
c.11677T>C (p.Phe3893Leu)
c.11674T>C (p.Phe3892Leu)
c.301T>C
c.5061T>C
c.11659T>C (p.Phe3887Leu)
c.11689T>C (p.Phe3897Leu)
19g.38543349T>GCA405661063RYR1c.102T>G
c.84T>G
c.11692T>G (p.Phe3898Val)
c.11677T>G (p.Phe3893Val)
c.11674T>G (p.Phe3892Val)
c.301T>G
c.5061T>G
c.11659T>G (p.Phe3887Val)
c.11689T>G (p.Phe3897Val)
19g.38543350T>ACA405661068RYR1c.103T>A
c.85T>A
c.11693T>A (p.Phe3898Tyr)
c.11678T>A (p.Phe3893Tyr)
c.11675T>A (p.Phe3892Tyr)
c.302T>A
c.5062T>A
c.11660T>A (p.Phe3887Tyr)
c.11690T>A (p.Phe3897Tyr)
19g.38543350T>CCA405661070RYR1c.103T>C
c.85T>C
c.11693T>C (p.Phe3898Ser)
c.11678T>C (p.Phe3893Ser)
c.11675T>C (p.Phe3892Ser)
c.302T>C
c.5062T>C
c.11660T>C (p.Phe3887Ser)
c.11690T>C (p.Phe3897Ser)
19g.38543350T>GCA405661066RYR1c.103T>G
c.85T>G
c.11693T>G (p.Phe3898Cys)
c.11678T>G (p.Phe3893Cys)
c.11675T>G (p.Phe3892Cys)
c.302T>G
c.5062T>G
c.11660T>G (p.Phe3887Cys)
c.11690T>G (p.Phe3897Cys)
19g.38543351C>ACA405661073RYR1c.104C>A
c.86C>A
c.11694C>A (p.Phe3898Leu)
c.11679C>A (p.Phe3893Leu)
c.11676C>A (p.Phe3892Leu)
c.303C>A
c.5063C>A
c.11661C>A (p.Phe3887Leu)
c.11691C>A (p.Phe3897Leu)
 ClinVar dbSNP COSMIC
19g.38543351C>GCA405661074RYR1c.104C>G
c.86C>G
c.11694C>G (p.Phe3898Leu)
c.11679C>G (p.Phe3893Leu)
c.11676C>G (p.Phe3892Leu)
c.303C>G
c.5063C>G
c.11661C>G (p.Phe3887Leu)
c.11691C>G (p.Phe3897Leu)
19g.38543351C>TCA507354570RYR1c.104C>T
c.86C>T
c.11694C>T (p.Phe3898=)
c.11679C>T (p.Phe3893=)
c.11676C>T (p.Phe3892=)
c.303C>T
c.5063C>T
c.11661C>T (p.Phe3887=)
c.11691C>T (p.Phe3897=)
19g.38543352C>ACA405661076RYR1c.105C>A
c.87C>A
c.11695C>A (p.Gln3899Lys)
c.11680C>A (p.Gln3894Lys)
c.11677C>A (p.Gln3893Lys)
c.304C>A
c.5064C>A
c.11662C>A (p.Gln3888Lys)
c.11692C>A (p.Gln3898Lys)
19g.38543352C>GCA405661078RYR1c.105C>G
c.87C>G
c.11695C>G (p.Gln3899Glu)
c.11680C>G (p.Gln3894Glu)
c.11677C>G (p.Gln3893Glu)
c.304C>G
c.5064C>G
c.11662C>G (p.Gln3888Glu)
c.11692C>G (p.Gln3898Glu)
19g.38543352C>TCA405661082RYR1c.105C>T
c.87C>T
c.11695C>T (p.Gln3899Ter)
c.11680C>T (p.Gln3894Ter)
c.11677C>T (p.Gln3893Ter)
c.304C>T
c.5064C>T
c.11662C>T (p.Gln3888Ter)
c.11692C>T (p.Gln3898Ter)
19g.38543353A>CCA405661086RYR1c.106A>C
c.88A>C
c.11696A>C (p.Gln3899Pro)
c.11681A>C (p.Gln3894Pro)
c.11678A>C (p.Gln3893Pro)
c.305A>C
c.5065A>C
c.11663A>C (p.Gln3888Pro)
c.11693A>C (p.Gln3898Pro)
19g.38543353A>GCA405661087RYR1c.106A>G
c.88A>G
c.11696A>G (p.Gln3899Arg)
c.11681A>G (p.Gln3894Arg)
c.11678A>G (p.Gln3893Arg)
c.305A>G
c.5065A>G
c.11663A>G (p.Gln3888Arg)
c.11693A>G (p.Gln3898Arg)
19g.38543353A>TCA405661089RYR1c.106A>T
c.88A>T
c.11696A>T (p.Gln3899Leu)
c.11681A>T (p.Gln3894Leu)
c.11678A>T (p.Gln3893Leu)
c.305A>T
c.5065A>T
c.11663A>T (p.Gln3888Leu)
c.11693A>T (p.Gln3898Leu)
19g.38543354G>ACA507354573RYR1c.107G>A
c.89G>A
c.11697G>A (p.Gln3899=)
c.11682G>A (p.Gln3894=)
c.11679G>A (p.Gln3893=)
c.306G>A
c.5066G>A
c.11664G>A (p.Gln3888=)
c.11694G>A (p.Gln3898=)
 gnomAD v4
19g.38543354G>CCA405661092RYR1c.107G>C
c.89G>C
c.11697G>C (p.Gln3899His)
c.11682G>C (p.Gln3894His)
c.11679G>C (p.Gln3893His)
c.306G>C
c.5066G>C
c.11664G>C (p.Gln3888His)
c.11694G>C (p.Gln3898His)
 ClinVar dbSNP
19g.38543354G=CA2335074303RYR1c.107G=
c.89G=
c.11697G= (p.Gln3899=)
c.11682G= (p.Gln3894=)
c.11679G= (p.Gln3893=)
c.306G=
c.5066G=
c.11664G= (p.Gln3888=)
c.11694G= (p.Gln3898=)
19g.38543354G>TCA405661093RYR1c.107G>T
c.89G>T
c.11697G>T (p.Gln3899His)
c.11682G>T (p.Gln3894His)
c.11679G>T (p.Gln3893His)
c.306G>T
c.5066G>T
c.11664G>T (p.Gln3888His)
c.11694G>T (p.Gln3898His)
 ClinVar dbSNP
19g.38543355A>CCA405661095RYR1c.108A>C
c.90A>C
c.11698A>C (p.Asn3900His)
c.11683A>C (p.Asn3895His)
c.11680A>C (p.Asn3894His)
c.307A>C
c.5067A>C
c.11665A>C (p.Asn3889His)
c.11695A>C (p.Asn3899His)
19g.38543355A>GCA405661097RYR1c.108A>G
c.90A>G
c.11698A>G (p.Asn3900Asp)
c.11683A>G (p.Asn3895Asp)
c.11680A>G (p.Asn3894Asp)
c.307A>G
c.5067A>G
c.11665A>G (p.Asn3889Asp)
c.11695A>G (p.Asn3899Asp)
19g.38543355A>TCA405661099RYR1c.108A>T
c.90A>T
c.11698A>T (p.Asn3900Tyr)
c.11683A>T (p.Asn3895Tyr)
c.11680A>T (p.Asn3894Tyr)
c.307A>T
c.5067A>T
c.11665A>T (p.Asn3889Tyr)
c.11695A>T (p.Asn3899Tyr)
 ClinVar dbSNP
19g.38543356A>CCA405661105RYR1c.109A>C
c.91A>C
c.11699A>C (p.Asn3900Thr)
c.11684A>C (p.Asn3895Thr)
c.11681A>C (p.Asn3894Thr)
c.308A>C
c.5068A>C
c.11666A>C (p.Asn3889Thr)
c.11696A>C (p.Asn3899Thr)
19g.38543356A>GCA405661103RYR1c.109A>G
c.91A>G
c.11699A>G (p.Asn3900Ser)
c.11684A>G (p.Asn3895Ser)
c.11681A>G (p.Asn3894Ser)
c.308A>G
c.5068A>G
c.11666A>G (p.Asn3889Ser)
c.11696A>G (p.Asn3899Ser)
19g.38543356A>TCA405661101RYR1c.109A>T
c.91A>T
c.11699A>T (p.Asn3900Ile)
c.11684A>T (p.Asn3895Ile)
c.11681A>T (p.Asn3894Ile)
c.308A>T
c.5068A>T
c.11666A>T (p.Asn3889Ile)
c.11696A>T (p.Asn3899Ile)
19g.38543357C>ACA405661107RYR1c.110C>A
c.92C>A
c.11700C>A (p.Asn3900Lys)
c.11685C>A (p.Asn3895Lys)
c.11682C>A (p.Asn3894Lys)
c.309C>A
c.5069C>A
c.11667C>A (p.Asn3889Lys)
c.11697C>A (p.Asn3899Lys)
 dbSNP
19g.38543357C=CA2335074304RYR1c.110C=
c.92C=
c.11700C= (p.Asn3900=)
c.11685C= (p.Asn3895=)
c.11682C= (p.Asn3894=)
c.309C=
c.5069C=
c.11667C= (p.Asn3889=)
c.11697C= (p.Asn3899=)
19g.38543357C>GCA405661109RYR1c.110C>G
c.92C>G
c.11700C>G (p.Asn3900Lys)
c.11685C>G (p.Asn3895Lys)
c.11682C>G (p.Asn3894Lys)
c.309C>G
c.5069C>G
c.11667C>G (p.Asn3889Lys)
c.11697C>G (p.Asn3899Lys)
 gnomAD v4
19g.38543357C>TCA507354577RYR1c.110C>T
c.92C>T
c.11700C>T (p.Asn3900=)
c.11685C>T (p.Asn3895=)
c.11682C>T (p.Asn3894=)
c.309C>T
c.5069C>T
c.11667C>T (p.Asn3889=)
c.11697C>T (p.Asn3899=)
 ClinVar
19g.38543358T>ACA405661111RYR1c.111T>A
c.93T>A
c.11701T>A (p.Tyr3901Asn)
c.11686T>A (p.Tyr3896Asn)
c.11683T>A (p.Tyr3895Asn)
c.310T>A
c.5070T>A
c.11668T>A (p.Tyr3890Asn)
c.11698T>A (p.Tyr3900Asn)
19g.38543358T>CCA405661113RYR1c.111T>C
c.93T>C
c.11701T>C (p.Tyr3901His)
c.11686T>C (p.Tyr3896His)
c.11683T>C (p.Tyr3895His)
c.310T>C
c.5070T>C
c.11668T>C (p.Tyr3890His)
c.11698T>C (p.Tyr3900His)
19g.38543358T>GCA405661114RYR1c.111T>G
c.93T>G
c.11701T>G (p.Tyr3901Asp)
c.11686T>G (p.Tyr3896Asp)
c.11683T>G (p.Tyr3895Asp)
c.310T>G
c.5070T>G
c.11668T>G (p.Tyr3890Asp)
c.11698T>G (p.Tyr3900Asp)
19g.38543359A>CCA405661116RYR1c.112A>C
c.94A>C
c.11702A>C (p.Tyr3901Ser)
c.11687A>C (p.Tyr3896Ser)
c.11684A>C (p.Tyr3895Ser)
c.311A>C
c.5071A>C
c.11669A>C (p.Tyr3890Ser)
c.11699A>C (p.Tyr3900Ser)
19g.38543359A>GCA405661118RYR1c.112A>G
c.94A>G
c.11702A>G (p.Tyr3901Cys)
c.11687A>G (p.Tyr3896Cys)
c.11684A>G (p.Tyr3895Cys)
c.311A>G
c.5071A>G
c.11669A>G (p.Tyr3890Cys)
c.11699A>G (p.Tyr3900Cys)
19g.38543359A>TCA405661120RYR1c.112A>T
c.94A>T
c.11702A>T (p.Tyr3901Phe)
c.11687A>T (p.Tyr3896Phe)
c.11684A>T (p.Tyr3895Phe)
c.311A>T
c.5071A>T
c.11669A>T (p.Tyr3890Phe)
c.11699A>T (p.Tyr3900Phe)
19g.38543360C>ACA405661122RYR1c.113C>A
c.95C>A
c.11703C>A (p.Tyr3901Ter)
c.11688C>A (p.Tyr3896Ter)
c.11685C>A (p.Tyr3895Ter)
c.312C>A
c.5072C>A
c.11670C>A (p.Tyr3890Ter)
c.11700C>A (p.Tyr3900Ter)
19g.38543360C=CA2335074305RYR1c.113C=
c.95C=
c.11703C= (p.Tyr3901=)
c.11688C= (p.Tyr3896=)
c.11685C= (p.Tyr3895=)
c.312C=
c.5072C=
c.11670C= (p.Tyr3890=)
c.11700C= (p.Tyr3900=)
19g.38543360C>GCA405661124RYR1c.113C>G
c.95C>G
c.11703C>G (p.Tyr3901Ter)
c.11688C>G (p.Tyr3896Ter)
c.11685C>G (p.Tyr3895Ter)
c.312C>G
c.5072C>G
c.11670C>G (p.Tyr3890Ter)
c.11700C>G (p.Tyr3900Ter)
19g.38543360C>TCA507354583RYR1c.113C>T
c.95C>T
c.11703C>T (p.Tyr3901=)
c.11688C>T (p.Tyr3896=)
c.11685C>T (p.Tyr3895=)
c.312C>T
c.5072C>T
c.11670C>T (p.Tyr3890=)
c.11700C>T (p.Tyr3900=)
 dbSNP
19g.38543361C>ACA405661127RYR1c.114C>A
c.96C>A
c.11704C>A (p.Leu3902Ile)
c.11689C>A (p.Leu3897Ile)
c.11686C>A (p.Leu3896Ile)
c.313C>A
c.5073C>A
c.11671C>A (p.Leu3891Ile)
c.11701C>A (p.Leu3901Ile)
19g.38543361C=CA2335074306RYR1c.114C=
c.96C=
c.11704C= (p.Leu3902=)
c.11689C= (p.Leu3897=)
c.11686C= (p.Leu3896=)
c.313C=
c.5073C=
c.11671C= (p.Leu3891=)
c.11701C= (p.Leu3901=)
19g.38543361C>GCA405661129RYR1c.114C>G
c.96C>G
c.11704C>G (p.Leu3902Val)
c.11689C>G (p.Leu3897Val)
c.11686C>G (p.Leu3896Val)
c.313C>G
c.5073C>G
c.11671C>G (p.Leu3891Val)
c.11701C>G (p.Leu3901Val)
 dbSNP COSMIC
19g.38543361C>TCA507354586RYR1c.114C>T
c.96C>T
c.11704C>T (p.Leu3902=)
c.11689C>T (p.Leu3897=)
c.11686C>T (p.Leu3896=)
c.313C>T
c.5073C>T
c.11671C>T (p.Leu3891=)
c.11701C>T (p.Leu3901=)
 ClinVar dbSNP
19g.38543362T>ACA405661135RYR1c.115T>A
c.97T>A
c.11705T>A (p.Leu3902Gln)
c.11690T>A (p.Leu3897Gln)
c.11687T>A (p.Leu3896Gln)
c.314T>A
c.5074T>A
c.11672T>A (p.Leu3891Gln)
c.11702T>A (p.Leu3901Gln)
19g.38543362T>CCA405661133RYR1c.115T>C
c.97T>C
c.11705T>C (p.Leu3902Pro)
c.11690T>C (p.Leu3897Pro)
c.11687T>C (p.Leu3896Pro)
c.314T>C
c.5074T>C
c.11672T>C (p.Leu3891Pro)
c.11702T>C (p.Leu3901Pro)
19g.38543362T>GCA405661131RYR1c.115T>G
c.97T>G
c.11705T>G (p.Leu3902Arg)
c.11690T>G (p.Leu3897Arg)
c.11687T>G (p.Leu3896Arg)
c.314T>G
c.5074T>G
c.11672T>G (p.Leu3891Arg)
c.11702T>G (p.Leu3901Arg)
19g.38543363A=CA2335074307RYR1c.116A=
c.98A=
c.11706A= (p.Leu3902=)
c.11691A= (p.Leu3897=)
c.11688A= (p.Leu3896=)
c.315A=
c.5075A=
c.11673A= (p.Leu3891=)
c.11703A= (p.Leu3901=)
19g.38543363A>CCA507354590RYR1c.116A>C
c.98A>C
c.11706A>C (p.Leu3902=)
c.11691A>C (p.Leu3897=)
c.11688A>C (p.Leu3896=)
c.315A>C
c.5075A>C
c.11673A>C (p.Leu3891=)
c.11703A>C (p.Leu3901=)
19g.38543363A>GCA057532RYR1c.116A>G
c.98A>G
c.11706A>G (p.Leu3902=)
c.11691A>G (p.Leu3897=)
c.11688A>G (p.Leu3896=)
c.315A>G
c.5075A>G
c.11673A>G (p.Leu3891=)
c.11703A>G (p.Leu3901=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38543363A>TCA507354591RYR1c.116A>T
c.98A>T
c.11706A>T (p.Leu3902=)
c.11691A>T (p.Leu3897=)
c.11688A>T (p.Leu3896=)
c.315A>T
c.5075A>T
c.11673A>T (p.Leu3891=)
c.11703A>T (p.Leu3901=)
19g.38543364C>ACA507354592RYR1c.117C>A
c.99C>A
c.11707C>A (p.Arg3903=)
c.11692C>A (p.Arg3898=)
c.11689C>A (p.Arg3897=)
c.316C>A
c.5076C>A
c.11674C>A (p.Arg3892=)
c.11704C>A (p.Arg3902=)
 gnomAD v4
19g.38543364C=CA2335074308RYR1c.117C=
c.99C=
c.11707C= (p.Arg3903=)
c.11692C= (p.Arg3898=)
c.11689C= (p.Arg3897=)
c.316C=
c.5076C=
c.11674C= (p.Arg3892=)
c.11704C= (p.Arg3902=)
19g.38543364C>GCA405661137RYR1c.117C>G
c.99C>G
c.11707C>G (p.Arg3903Gly)
c.11692C>G (p.Arg3898Gly)
c.11689C>G (p.Arg3897Gly)
c.316C>G
c.5076C>G
c.11674C>G (p.Arg3892Gly)
c.11704C>G (p.Arg3902Gly)
19g.38543364C>TCA405661138RYR1c.117C>T
c.99C>T
c.11707C>T (p.Arg3903Trp)
c.11692C>T (p.Arg3898Trp)
c.11689C>T (p.Arg3897Trp)
c.316C>T
c.5076C>T
c.11674C>T (p.Arg3892Trp)
c.11704C>T (p.Arg3902Trp)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.38543365G>ACA023926RYR1c.118G>A
c.100G>A
c.11708G>A (p.Arg3903Gln)
c.11693G>A (p.Arg3898Gln)
c.11690G>A (p.Arg3897Gln)
c.317G>A
c.5077G>A
c.11675G>A (p.Arg3892Gln)
c.11705G>A (p.Arg3902Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38543365G>CCA405661141RYR1c.118G>C
c.100G>C
c.11708G>C (p.Arg3903Pro)
c.11693G>C (p.Arg3898Pro)
c.11690G>C (p.Arg3897Pro)
c.317G>C
c.5077G>C
c.11675G>C (p.Arg3892Pro)
c.11705G>C (p.Arg3902Pro)
 ClinVar
19g.38543365G=CA2335074309RYR1c.118G=
c.100G=
c.11708G= (p.Arg3903=)
c.11693G= (p.Arg3898=)
c.11690G= (p.Arg3897=)
c.317G=
c.5077G=
c.11675G= (p.Arg3892=)
c.11705G= (p.Arg3902=)
19g.38543365G>TCA405661143RYR1c.118G>T
c.100G>T
c.11708G>T (p.Arg3903Leu)
c.11693G>T (p.Arg3898Leu)
c.11690G>T (p.Arg3897Leu)
c.317G>T
c.5077G>T
c.11675G>T (p.Arg3892Leu)
c.11705G>T (p.Arg3902Leu)
 ClinVar gnomAD v4
19g.38543366G>ACA507354594RYR1c.119G>A
c.101G>A
c.11709G>A (p.Arg3903=)
c.11694G>A (p.Arg3898=)
c.11691G>A (p.Arg3897=)
c.318G>A
c.5078G>A
c.11676G>A (p.Arg3892=)
c.11706G>A (p.Arg3902=)
 COSMIC
19g.38543366G>CCA507354595RYR1c.119G>C
c.101G>C
c.11709G>C (p.Arg3903=)
c.11694G>C (p.Arg3898=)
c.11691G>C (p.Arg3897=)
c.318G>C
c.5078G>C
c.11676G>C (p.Arg3892=)
c.11706G>C (p.Arg3902=)
19g.38543366G>TCA507354596RYR1c.119G>T
c.101G>T
c.11709G>T (p.Arg3903=)
c.11694G>T (p.Arg3898=)
c.11691G>T (p.Arg3897=)
c.318G>T
c.5078G>T
c.11676G>T (p.Arg3892=)
c.11706G>T (p.Arg3902=)
19g.38543367A>CCA405661145RYR1c.120A>C
c.102A>C
c.11710A>C (p.Thr3904Pro)
c.11695A>C (p.Thr3899Pro)
c.11692A>C (p.Thr3898Pro)
c.319A>C
c.5079A>C
c.11677A>C (p.Thr3893Pro)
c.11707A>C (p.Thr3903Pro)
19g.38543367A>GCA405661147RYR1c.120A>G
c.102A>G
c.11710A>G (p.Thr3904Ala)
c.11695A>G (p.Thr3899Ala)
c.11692A>G (p.Thr3898Ala)
c.319A>G
c.5079A>G
c.11677A>G (p.Thr3893Ala)
c.11707A>G (p.Thr3903Ala)
19g.38543367A>TCA405661149RYR1c.120A>T
c.102A>T
c.11710A>T (p.Thr3904Ser)
c.11695A>T (p.Thr3899Ser)
c.11692A>T (p.Thr3898Ser)
c.319A>T
c.5079A>T
c.11677A>T (p.Thr3893Ser)
c.11707A>T (p.Thr3903Ser)
19g.38543368C>ACA405661152RYR1c.121C>A
c.103C>A
c.11711C>A (p.Thr3904Lys)
c.11696C>A (p.Thr3899Lys)
c.11693C>A (p.Thr3898Lys)
c.320C>A
c.5080C>A
c.11678C>A (p.Thr3893Lys)
c.11708C>A (p.Thr3903Lys)
19g.38543368C>GCA405661154RYR1c.121C>G
c.103C>G
c.11711C>G (p.Thr3904Arg)
c.11696C>G (p.Thr3899Arg)
c.11693C>G (p.Thr3898Arg)
c.320C>G
c.5080C>G
c.11678C>G (p.Thr3893Arg)
c.11708C>G (p.Thr3903Arg)
19g.38543368C>TCA405661155RYR1c.121C>T
c.103C>T
c.11711C>T (p.Thr3904Ile)
c.11696C>T (p.Thr3899Ile)
c.11693C>T (p.Thr3898Ile)
c.320C>T
c.5080C>T
c.11678C>T (p.Thr3893Ile)
c.11708C>T (p.Thr3903Ile)
 gnomAD v4
19g.38543369A=CA2335074310RYR1c.122A=
c.104A=
c.11712A= (p.Thr3904=)
c.11697A= (p.Thr3899=)
c.11694A= (p.Thr3898=)
c.321A=
c.5081A=
c.11679A= (p.Thr3893=)
c.11709A= (p.Thr3903=)
19g.38543369A>CCA507354602RYR1c.122A>C
c.104A>C
c.11712A>C (p.Thr3904=)
c.11697A>C (p.Thr3899=)
c.11694A>C (p.Thr3898=)
c.321A>C
c.5081A>C
c.11679A>C (p.Thr3893=)
c.11709A>C (p.Thr3903=)
19g.38543369A>GCA057538RYR1c.122A>G
c.104A>G
c.11712A>G (p.Thr3904=)
c.11697A>G (p.Thr3899=)
c.11694A>G (p.Thr3898=)
c.321A>G
c.5081A>G
c.11679A>G (p.Thr3893=)
c.11709A>G (p.Thr3903=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38543369A>TCA507354603RYR1c.122A>T
c.104A>T
c.11712A>T (p.Thr3904=)
c.11697A>T (p.Thr3899=)
c.11694A>T (p.Thr3898=)
c.321A>T
c.5081A>T
c.11679A>T (p.Thr3893=)
c.11709A>T (p.Thr3903=)
19g.38543373_38543376delCA2584908082RYR1c.126_129del
c.108_111del
c.11716_11719del (p.Thr3906GlyfsTer?)
c.11701_11704del (p.Thr3901GlyfsTer?)
c.11698_11701del (p.Thr3900GlyfsTer?)
c.325_328del
c.5085_5088del
c.11683_11686del (p.Thr3895GlyfsTer?)
c.11713_11716del (p.Thr3905GlyfsTer?)
 gnomAD v4
19g.38543370C>ACA405661163RYR1c.123C>A
c.105C>A
c.11713C>A (p.Gln3905Lys)
c.11698C>A (p.Gln3900Lys)
c.11695C>A (p.Gln3899Lys)
c.322C>A
c.5082C>A
c.11680C>A (p.Gln3894Lys)
c.11710C>A (p.Gln3904Lys)
19g.38543370C>GCA405661161RYR1c.123C>G
c.105C>G
c.11713C>G (p.Gln3905Glu)
c.11698C>G (p.Gln3900Glu)
c.11695C>G (p.Gln3899Glu)
c.322C>G
c.5082C>G
c.11680C>G (p.Gln3894Glu)
c.11710C>G (p.Gln3904Glu)
 gnomAD v4
19g.38543370C>TCA405661159RYR1c.123C>T
c.105C>T
c.11713C>T (p.Gln3905Ter)
c.11698C>T (p.Gln3900Ter)
c.11695C>T (p.Gln3899Ter)
c.322C>T
c.5082C>T
c.11680C>T (p.Gln3894Ter)
c.11710C>T (p.Gln3904Ter)
 gnomAD v4
19g.38543371A>CCA405661165RYR1c.124A>C
c.106A>C
c.11714A>C (p.Gln3905Pro)
c.11699A>C (p.Gln3900Pro)
c.11696A>C (p.Gln3899Pro)
c.323A>C
c.5083A>C
c.11681A>C (p.Gln3894Pro)
c.11711A>C (p.Gln3904Pro)
 COSMIC
19g.38543371A>GCA405661167RYR1c.124A>G
c.106A>G
c.11714A>G (p.Gln3905Arg)
c.11699A>G (p.Gln3900Arg)
c.11696A>G (p.Gln3899Arg)
c.323A>G
c.5083A>G
c.11681A>G (p.Gln3894Arg)
c.11711A>G (p.Gln3904Arg)
19g.38543371A>TCA405661169RYR1c.124A>T
c.106A>T
c.11714A>T (p.Gln3905Leu)
c.11699A>T (p.Gln3900Leu)
c.11696A>T (p.Gln3899Leu)
c.323A>T
c.5083A>T
c.11681A>T (p.Gln3894Leu)
c.11711A>T (p.Gln3904Leu)
19g.38543372G>ACA308091978RYR1c.125G>A
c.107G>A
c.11715G>A (p.Gln3905=)
c.11700G>A (p.Gln3900=)
c.11697G>A (p.Gln3899=)
c.324G>A
c.5084G>A
c.11682G>A (p.Gln3894=)
c.11712G>A (p.Gln3904=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38543372G>CCA405661171RYR1c.125G>C
c.107G>C
c.11715G>C (p.Gln3905His)
c.11700G>C (p.Gln3900His)
c.11697G>C (p.Gln3899His)
c.324G>C
c.5084G>C
c.11682G>C (p.Gln3894His)
c.11712G>C (p.Gln3904His)
 ClinVar
19g.38543372G=CA2335074311RYR1c.125G=
c.107G=
c.11715G= (p.Gln3905=)
c.11700G= (p.Gln3900=)
c.11697G= (p.Gln3899=)
c.324G=
c.5084G=
c.11682G= (p.Gln3894=)
c.11712G= (p.Gln3904=)
19g.38543372G>TCA405661173RYR1c.125G>T
c.107G>T
c.11715G>T (p.Gln3905His)
c.11700G>T (p.Gln3900His)
c.11697G>T (p.Gln3899His)
c.324G>T
c.5084G>T
c.11682G>T (p.Gln3894His)
c.11712G>T (p.Gln3904His)
 COSMIC
19g.38543373A=CA2335074312RYR1c.126A=
c.108A=
c.11716A= (p.Thr3906=)
c.11701A= (p.Thr3901=)
c.11698A= (p.Thr3900=)
c.325A=
c.5085A=
c.11683A= (p.Thr3895=)
c.11713A= (p.Thr3905=)
19g.38543373A>CCA405661176RYR1c.126A>C
c.108A>C
c.11716A>C (p.Thr3906Pro)
c.11701A>C (p.Thr3901Pro)
c.11698A>C (p.Thr3900Pro)
c.325A>C
c.5085A>C
c.11683A>C (p.Thr3895Pro)
c.11713A>C (p.Thr3905Pro)
19g.38543373A>GCA405661177RYR1c.126A>G
c.108A>G
c.11716A>G (p.Thr3906Ala)
c.11701A>G (p.Thr3901Ala)
c.11698A>G (p.Thr3900Ala)
c.325A>G
c.5085A>G
c.11683A>G (p.Thr3895Ala)
c.11713A>G (p.Thr3905Ala)
 COSMIC
19g.38543373A>TCA405661179RYR1c.126A>T
c.108A>T
c.11716A>T (p.Thr3906Ser)
c.11701A>T (p.Thr3901Ser)
c.11698A>T (p.Thr3900Ser)
c.325A>T
c.5085A>T
c.11683A>T (p.Thr3895Ser)
c.11713A>T (p.Thr3905Ser)
 ClinVar dbSNP gnomAD v4
19g.38543374C>ACA405661182RYR1c.127C>A
c.109C>A
c.11717C>A (p.Thr3906Lys)
c.11702C>A (p.Thr3901Lys)
c.11699C>A (p.Thr3900Lys)
c.326C>A
c.5086C>A
c.11684C>A (p.Thr3895Lys)
c.11714C>A (p.Thr3905Lys)
19g.38543374C>GCA405661183RYR1c.127C>G
c.109C>G
c.11717C>G (p.Thr3906Arg)
c.11702C>G (p.Thr3901Arg)
c.11699C>G (p.Thr3900Arg)
c.326C>G
c.5086C>G
c.11684C>G (p.Thr3895Arg)
c.11714C>G (p.Thr3905Arg)
19g.38543374C>TCA405661185RYR1c.127C>T
c.109C>T
c.11717C>T (p.Thr3906Ile)
c.11702C>T (p.Thr3901Ile)
c.11699C>T (p.Thr3900Ile)
c.326C>T
c.5086C>T
c.11684C>T (p.Thr3895Ile)
c.11714C>T (p.Thr3905Ile)
 gnomAD v4 COSMIC
19g.38543375A>CCA507354609RYR1c.128A>C
c.110A>C
c.11718A>C (p.Thr3906=)
c.11703A>C (p.Thr3901=)
c.11700A>C (p.Thr3900=)
c.327A>C
c.5087A>C
c.11685A>C (p.Thr3895=)
c.11715A>C (p.Thr3905=)
19g.38543375A>GCA507354610RYR1c.128A>G
c.110A>G
c.11718A>G (p.Thr3906=)
c.11703A>G (p.Thr3901=)
c.11700A>G (p.Thr3900=)
c.327A>G
c.5087A>G
c.11685A>G (p.Thr3895=)
c.11715A>G (p.Thr3905=)
 gnomAD v4
19g.38543375A>TCA507354611RYR1c.128A>T
c.110A>T
c.11718A>T (p.Thr3906=)
c.11703A>T (p.Thr3901=)
c.11700A>T (p.Thr3900=)
c.327A>T
c.5087A>T
c.11685A>T (p.Thr3895=)
c.11715A>T (p.Thr3905=)
19g.38543376G>ACA080389RYR1c.129G>A
c.111G>A
c.11719G>A (p.Gly3907Arg)
c.11704G>A (p.Gly3902Arg)
c.11701G>A (p.Gly3901Arg)
c.328G>A
c.5088G>A
c.11686G>A (p.Gly3896Arg)
c.11716G>A (p.Gly3906Arg)
19g.38543376G>CCA405661188RYR1c.129G>C
c.111G>C
c.11719G>C (p.Gly3907Arg)
c.11704G>C (p.Gly3902Arg)
c.11701G>C (p.Gly3901Arg)
c.328G>C
c.5088G>C
c.11686G>C (p.Gly3896Arg)
c.11716G>C (p.Gly3906Arg)
19g.38543376G>TCA405661189RYR1c.129G>T
c.111G>T
c.11719G>T (p.Gly3907Trp)
c.11704G>T (p.Gly3902Trp)
c.11701G>T (p.Gly3901Trp)
c.328G>T
c.5088G>T
c.11686G>T (p.Gly3896Trp)
c.11716G>T (p.Gly3906Trp)
19g.38543377G>ACA405661193RYR1c.130G>A
c.112G>A
c.11720G>A (p.Gly3907Glu)
c.11705G>A (p.Gly3902Glu)
c.11702G>A (p.Gly3901Glu)
c.329G>A
c.5089G>A
c.11687G>A (p.Gly3896Glu)
c.11717G>A (p.Gly3906Glu)
19g.38543377G>CCA405661194RYR1c.130G>C
c.112G>C
c.11720G>C (p.Gly3907Ala)
c.11705G>C (p.Gly3902Ala)
c.11702G>C (p.Gly3901Ala)
c.329G>C
c.5089G>C
c.11687G>C (p.Gly3896Ala)
c.11717G>C (p.Gly3906Ala)
19g.38543377G>TCA405661191RYR1c.130G>T
c.112G>T
c.11720G>T (p.Gly3907Val)
c.11705G>T (p.Gly3902Val)
c.11702G>T (p.Gly3901Val)
c.329G>T
c.5089G>T
c.11687G>T (p.Gly3896Val)
c.11717G>T (p.Gly3906Val)
19g.38543378G>ACA507354613RYR1c.131G>A
c.113G>A
c.11721G>A (p.Gly3907=)
c.11706G>A (p.Gly3902=)
c.11703G>A (p.Gly3901=)
c.330G>A
c.5090G>A
c.11688G>A (p.Gly3896=)
c.11718G>A (p.Gly3906=)
19g.38543378G>CCA507354615RYR1c.131G>C
c.113G>C
c.11721G>C (p.Gly3907=)
c.11706G>C (p.Gly3902=)
c.11703G>C (p.Gly3901=)
c.330G>C
c.5090G>C
c.11688G>C (p.Gly3896=)
c.11718G>C (p.Gly3906=)
19g.38543378G>TCA507354614RYR1c.131G>T
c.113G>T
c.11721G>T (p.Gly3907=)
c.11706G>T (p.Gly3902=)
c.11703G>T (p.Gly3901=)
c.330G>T
c.5090G>T
c.11688G>T (p.Gly3896=)
c.11718G>T (p.Gly3906=)
19g.38543379A>CCA405661196RYR1c.132A>C
c.114A>C
c.11722A>C (p.Asn3908His)
c.11707A>C (p.Asn3903His)
c.11704A>C (p.Asn3902His)
c.331A>C
c.5091A>C
c.11689A>C (p.Asn3897His)
c.11719A>C (p.Asn3907His)
19g.38543379A>GCA405661198RYR1c.132A>G
c.114A>G
c.11722A>G (p.Asn3908Asp)
c.11707A>G (p.Asn3903Asp)
c.11704A>G (p.Asn3902Asp)
c.331A>G
c.5091A>G
c.11689A>G (p.Asn3897Asp)
c.11719A>G (p.Asn3907Asp)
19g.38543379A>TCA405661200RYR1c.132A>T
c.114A>T
c.11722A>T (p.Asn3908Tyr)
c.11707A>T (p.Asn3903Tyr)
c.11704A>T (p.Asn3902Tyr)
c.331A>T
c.5091A>T
c.11689A>T (p.Asn3897Tyr)
c.11719A>T (p.Asn3907Tyr)
19g.38543380A=CA2335074313RYR1c.133A=
c.115A=
c.11723A= (p.Asn3908=)
c.11708A= (p.Asn3903=)
c.11705A= (p.Asn3902=)
c.332A=
c.5092A=
c.11690A= (p.Asn3897=)
c.11720A= (p.Asn3907=)
19g.38543380A>CCA405661201RYR1c.133A>C
c.115A>C
c.11723A>C (p.Asn3908Thr)
c.11708A>C (p.Asn3903Thr)
c.11705A>C (p.Asn3902Thr)
c.332A>C
c.5092A>C
c.11690A>C (p.Asn3897Thr)
c.11720A>C (p.Asn3907Thr)
19g.38543380A>GCA057545RYR1c.133A>G
c.115A>G
c.11723A>G (p.Asn3908Ser)
c.11708A>G (p.Asn3903Ser)
c.11705A>G (p.Asn3902Ser)
c.332A>G
c.5092A>G
c.11690A>G (p.Asn3897Ser)
c.11720A>G (p.Asn3907Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38543380A>TCA405661203RYR1c.133A>T
c.115A>T
c.11723A>T (p.Asn3908Ile)
c.11708A>T (p.Asn3903Ile)
c.11705A>T (p.Asn3902Ile)
c.332A>T
c.5092A>T
c.11690A>T (p.Asn3897Ile)
c.11720A>T (p.Asn3907Ile)
 ClinVar dbSNP gnomAD v4
19g.38543381C>ACA405661204RYR1c.134C>A
c.116C>A
c.11724C>A (p.Asn3908Lys)
c.11709C>A (p.Asn3903Lys)
c.11706C>A (p.Asn3902Lys)
c.333C>A
c.5093C>A
c.11691C>A (p.Asn3897Lys)
c.11721C>A (p.Asn3907Lys)
19g.38543381C=CA2335074314RYR1c.134C=
c.116C=
c.11724C= (p.Asn3908=)
c.11709C= (p.Asn3903=)
c.11706C= (p.Asn3902=)
c.333C=
c.5093C=
c.11691C= (p.Asn3897=)
c.11721C= (p.Asn3907=)
19g.38543381C>GCA405661206RYR1c.134C>G
c.116C>G
c.11724C>G (p.Asn3908Lys)
c.11709C>G (p.Asn3903Lys)
c.11706C>G (p.Asn3902Lys)
c.333C>G
c.5093C>G
c.11691C>G (p.Asn3897Lys)
c.11721C>G (p.Asn3907Lys)
19g.38543381C>TCA308091985RYR1c.134C>T
c.116C>T
c.11724C>T (p.Asn3908=)
c.11709C>T (p.Asn3903=)
c.11706C>T (p.Asn3902=)
c.333C>T
c.5093C>T
c.11691C>T (p.Asn3897=)
c.11721C>T (p.Asn3907=)
 dbSNP gnomAD v4
19g.38543382A>CCA405661207RYR1c.135A>C
c.117A>C
c.11725A>C (p.Thr3909Pro)
c.11710A>C (p.Thr3904Pro)
c.11707A>C (p.Thr3903Pro)
c.334A>C
c.5094A>C
c.11692A>C (p.Thr3898Pro)
c.11722A>C (p.Thr3908Pro)
 gnomAD v4
19g.38543382A>GCA405661208RYR1c.135A>G
c.117A>G
c.11725A>G (p.Thr3909Ala)
c.11710A>G (p.Thr3904Ala)
c.11707A>G (p.Thr3903Ala)
c.334A>G
c.5094A>G
c.11692A>G (p.Thr3898Ala)
c.11722A>G (p.Thr3908Ala)
19g.38543382A>TCA405661210RYR1c.135A>T
c.117A>T
c.11725A>T (p.Thr3909Ser)
c.11710A>T (p.Thr3904Ser)
c.11707A>T (p.Thr3903Ser)
c.334A>T
c.5094A>T
c.11692A>T (p.Thr3898Ser)
c.11722A>T (p.Thr3908Ser)
19g.38543383C>ACA405661214RYR1c.136C>A
c.118C>A
c.11726C>A (p.Thr3909Lys)
c.11711C>A (p.Thr3904Lys)
c.11708C>A (p.Thr3903Lys)
c.335C>A
c.5095C>A
c.11693C>A (p.Thr3898Lys)
c.11723C>A (p.Thr3908Lys)
 COSMIC
19g.38543383C=CA2335074315RYR1c.136C=
c.118C=
c.11726C= (p.Thr3909=)
c.11711C= (p.Thr3904=)
c.11708C= (p.Thr3903=)
c.335C=
c.5095C=
c.11693C= (p.Thr3898=)
c.11723C= (p.Thr3908=)
19g.38543383C>GCA405661212RYR1c.136C>G
c.118C>G
c.11726C>G (p.Thr3909Arg)
c.11711C>G (p.Thr3904Arg)
c.11708C>G (p.Thr3903Arg)
c.335C>G
c.5095C>G
c.11693C>G (p.Thr3898Arg)
c.11723C>G (p.Thr3908Arg)
 gnomAD v4
19g.38543383C>TCA057550RYR1c.136C>T
c.118C>T
c.11726C>T (p.Thr3909Met)
c.11711C>T (p.Thr3904Met)
c.11708C>T (p.Thr3903Met)
c.335C>T
c.5095C>T
c.11693C>T (p.Thr3898Met)
c.11723C>T (p.Thr3908Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38543384G>ACA057557RYR1c.137G>A
c.119G>A
c.11727G>A (p.Thr3909=)
c.11712G>A (p.Thr3904=)
c.11709G>A (p.Thr3903=)
c.336G>A
c.5096G>A
c.11694G>A (p.Thr3898=)
c.11724G>A (p.Thr3908=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38543384G>CCA507354623RYR1c.137G>C
c.119G>C
c.11727G>C (p.Thr3909=)
c.11712G>C (p.Thr3904=)
c.11709G>C (p.Thr3903=)
c.336G>C
c.5096G>C
c.11694G>C (p.Thr3898=)
c.11724G>C (p.Thr3908=)
19g.38543384G=CA2335074316RYR1c.137G=
c.119G=
c.11727G= (p.Thr3909=)
c.11712G= (p.Thr3904=)
c.11709G= (p.Thr3903=)
c.336G=
c.5096G=
c.11694G= (p.Thr3898=)
c.11724G= (p.Thr3908=)
19g.38543384G>TCA080391RYR1c.137G>T
c.119G>T
c.11727G>T (p.Thr3909=)
c.11712G>T (p.Thr3904=)
c.11709G>T (p.Thr3903=)
c.336G>T
c.5096G>T
c.11694G>T (p.Thr3898=)
c.11724G>T (p.Thr3908=)
 gnomAD v4
19g.38543385A>CCA080392RYR1c.138A>C
c.120A>C
c.11728A>C (p.Thr3910Pro)
c.11713A>C (p.Thr3905Pro)
c.11710A>C (p.Thr3904Pro)
c.337A>C
c.5097A>C
c.11695A>C (p.Thr3899Pro)
c.11725A>C (p.Thr3909Pro)
19g.38543385A>GCA405661218RYR1c.138A>G
c.120A>G
c.11728A>G (p.Thr3910Ala)
c.11713A>G (p.Thr3905Ala)
c.11710A>G (p.Thr3904Ala)
c.337A>G
c.5097A>G
c.11695A>G (p.Thr3899Ala)
c.11725A>G (p.Thr3909Ala)
19g.38543385A>TCA405661220RYR1c.138A>T
c.120A>T
c.11728A>T (p.Thr3910Ser)
c.11713A>T (p.Thr3905Ser)
c.11710A>T (p.Thr3904Ser)
c.337A>T
c.5097A>T
c.11695A>T (p.Thr3899Ser)
c.11725A>T (p.Thr3909Ser)
19g.38543386C>ACA405661222RYR1c.139C>A
c.121C>A
c.11729C>A (p.Thr3910Asn)
c.11714C>A (p.Thr3905Asn)
c.11711C>A (p.Thr3904Asn)
c.338C>A
c.5098C>A
c.11696C>A (p.Thr3899Asn)
c.11726C>A (p.Thr3909Asn)
19g.38543386C>GCA405661224RYR1c.139C>G
c.121C>G
c.11729C>G (p.Thr3910Ser)
c.11714C>G (p.Thr3905Ser)
c.11711C>G (p.Thr3904Ser)
c.338C>G
c.5098C>G
c.11696C>G (p.Thr3899Ser)
c.11726C>G (p.Thr3909Ser)
19g.38543386C>TCA080414RYR1c.139C>T
c.121C>T
c.11729C>T (p.Thr3910Ile)
c.11714C>T (p.Thr3905Ile)
c.11711C>T (p.Thr3904Ile)
c.338C>T
c.5098C>T
c.11696C>T (p.Thr3899Ile)
c.11726C>T (p.Thr3909Ile)
19g.38543387C>ACA507354629RYR1c.140C>A
c.122C>A
c.11730C>A (p.Thr3910=)
c.11715C>A (p.Thr3905=)
c.11712C>A (p.Thr3904=)
c.339C>A
c.5099C>A
c.11697C>A (p.Thr3899=)
c.11727C>A (p.Thr3909=)
19g.38543387C=CA2335074317RYR1c.140C=
c.122C=
c.11730C= (p.Thr3910=)
c.11715C= (p.Thr3905=)
c.11712C= (p.Thr3904=)
c.339C=
c.5099C=
c.11697C= (p.Thr3899=)
c.11727C= (p.Thr3909=)
19g.38543387C>GCA507354628RYR1c.140C>G
c.122C>G
c.11730C>G (p.Thr3910=)
c.11715C>G (p.Thr3905=)
c.11712C>G (p.Thr3904=)
c.339C>G
c.5099C>G
c.11697C>G (p.Thr3899=)
c.11727C>G (p.Thr3909=)
 ClinVar
19g.38543387C>TCA507354627RYR1c.140C>T
c.122C>T
c.11730C>T (p.Thr3910=)
c.11715C>T (p.Thr3905=)
c.11712C>T (p.Thr3904=)
c.339C>T
c.5099C>T
c.11697C>T (p.Thr3899=)
c.11727C>T (p.Thr3909=)
 dbSNP
19g.38543388A=CA2335074318RYR1c.141A=
c.123A=
c.11731A= (p.Thr3911=)
c.11716A= (p.Thr3906=)
c.11713A= (p.Thr3905=)
c.340A=
c.5100A=
c.11698A= (p.Thr3900=)
c.11728A= (p.Thr3910=)
19g.38543388A>CCA405661226RYR1c.141A>C
c.123A>C
c.11731A>C (p.Thr3911Pro)
c.11716A>C (p.Thr3906Pro)
c.11713A>C (p.Thr3905Pro)
c.340A>C
c.5100A>C
c.11698A>C (p.Thr3900Pro)
c.11728A>C (p.Thr3910Pro)
 gnomAD v4
19g.38543388A>GCA057560RYR1c.141A>G
c.123A>G
c.11731A>G (p.Thr3911Ala)
c.11716A>G (p.Thr3906Ala)
c.11713A>G (p.Thr3905Ala)
c.340A>G
c.5100A>G
c.11698A>G (p.Thr3900Ala)
c.11728A>G (p.Thr3910Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38543388A>TCA405661228RYR1c.141A>T
c.123A>T
c.11731A>T (p.Thr3911Ser)
c.11716A>T (p.Thr3906Ser)
c.11713A>T (p.Thr3905Ser)
c.340A>T
c.5100A>T
c.11698A>T (p.Thr3900Ser)
c.11728A>T (p.Thr3910Ser)
19g.38543389C>ACA405661231RYR1c.142C>A
c.124C>A
c.11732C>A (p.Thr3911Asn)
c.11717C>A (p.Thr3906Asn)
c.11714C>A (p.Thr3905Asn)
c.341C>A
c.5101C>A
c.11699C>A (p.Thr3900Asn)
c.11729C>A (p.Thr3910Asn)
19g.38543389C>GCA405661233RYR1c.142C>G
c.124C>G
c.11732C>G (p.Thr3911Ser)
c.11717C>G (p.Thr3906Ser)
c.11714C>G (p.Thr3905Ser)
c.341C>G
c.5101C>G
c.11699C>G (p.Thr3900Ser)
c.11729C>G (p.Thr3910Ser)
19g.38543389C>TCA405661235RYR1c.142C>T
c.124C>T
c.11732C>T (p.Thr3911Ile)
c.11717C>T (p.Thr3906Ile)
c.11714C>T (p.Thr3905Ile)
c.341C>T
c.5101C>T
c.11699C>T (p.Thr3900Ile)
c.11729C>T (p.Thr3910Ile)
 COSMIC
19g.38543390T>ACA507354630RYR1c.143T>A
c.125T>A
c.11733T>A (p.Thr3911=)
c.11718T>A (p.Thr3906=)
c.11715T>A (p.Thr3905=)
c.342T>A
c.5102T>A
c.11700T>A (p.Thr3900=)
c.11730T>A (p.Thr3910=)
19g.38543390T>CCA507354632RYR1c.143T>C
c.125T>C
c.11733T>C (p.Thr3911=)
c.11718T>C (p.Thr3906=)
c.11715T>C (p.Thr3905=)
c.342T>C
c.5102T>C
c.11700T>C (p.Thr3900=)
c.11730T>C (p.Thr3910=)
19g.38543390T>GCA507354633RYR1c.143T>G
c.125T>G
c.11733T>G (p.Thr3911=)
c.11718T>G (p.Thr3906=)
c.11715T>G (p.Thr3905=)
c.342T>G
c.5102T>G
c.11700T>G (p.Thr3900=)
c.11730T>G (p.Thr3910=)
 gnomAD v4
19g.38543391A=CA2335074320RYR1c.144A=
c.126A=
c.11734A= (p.Ile3912=)
c.11719A= (p.Ile3907=)
c.11716A= (p.Ile3906=)
c.343A=
c.5103A=
c.11701A= (p.Ile3901=)
c.11731A= (p.Ile3911=)
19g.38543391A>CCA405661239RYR1c.144A>C
c.126A>C
c.11734A>C (p.Ile3912Leu)
c.11719A>C (p.Ile3907Leu)
c.11716A>C (p.Ile3906Leu)
c.343A>C
c.5103A>C
c.11701A>C (p.Ile3901Leu)
c.11731A>C (p.Ile3911Leu)
19g.38543391A>GCA080416RYR1c.144A>G
c.126A>G
c.11734A>G (p.Ile3912Val)
c.11719A>G (p.Ile3907Val)
c.11716A>G (p.Ile3906Val)
c.343A>G
c.5103A>G
c.11701A>G (p.Ile3901Val)
c.11731A>G (p.Ile3911Val)
 dbSNP gnomAD v4
19g.38543391A>TCA405661237RYR1c.144A>T
c.126A>T
c.11734A>T (p.Ile3912Phe)
c.11719A>T (p.Ile3907Phe)
c.11716A>T (p.Ile3906Phe)
c.343A>T
c.5103A>T
c.11701A>T (p.Ile3901Phe)
c.11731A>T (p.Ile3911Phe)
19g.38543391_38543392delinsATCA2335074319RYR1c.144_145delinsAT
c.126_127delinsAT
c.11734_11735delinsAT (p.Ile3912=)
c.11719_11720delinsAT (p.Ile3907=)
c.11716_11717delinsAT (p.Ile3906=)
c.343_344delinsAT
c.5103_5104delinsAT
c.11701_11702delinsAT (p.Ile3901=)
c.11731_11732delinsAT (p.Ile3911=)
19g.38543392T>ACA10652420RYR1c.145T>A
c.127T>A
c.11735T>A (p.Ile3912Asn)
c.11720T>A (p.Ile3907Asn)
c.11717T>A (p.Ile3906Asn)
c.344T>A
c.5104T>A
c.11702T>A (p.Ile3901Asn)
c.11732T>A (p.Ile3911Asn)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38543392T>CCA405661242RYR1c.145T>C
c.127T>C
c.11735T>C (p.Ile3912Thr)
c.11720T>C (p.Ile3907Thr)
c.11717T>C (p.Ile3906Thr)
c.344T>C
c.5104T>C
c.11702T>C (p.Ile3901Thr)
c.11732T>C (p.Ile3911Thr)
19g.38543392T>GCA405661244RYR1c.145T>G
c.127T>G
c.11735T>G (p.Ile3912Ser)
c.11720T>G (p.Ile3907Ser)
c.11717T>G (p.Ile3906Ser)
c.344T>G
c.5104T>G
c.11702T>G (p.Ile3901Ser)
c.11732T>G (p.Ile3911Ser)
19g.38543392T=CA2335074321RYR1c.145T=
c.127T=
c.11735T= (p.Ile3912=)
c.11720T= (p.Ile3907=)
c.11717T= (p.Ile3906=)
c.344T=
c.5104T=
c.11702T= (p.Ile3901=)
c.11732T= (p.Ile3911=)
19g.38543393delCA633066749RYR1c.146del
c.128del
c.11736del (p.Asn3913ThrfsTer?)
c.11721del (p.Asn3908ThrfsTer?)
c.11718del (p.Asn3907ThrfsTer?)
c.345del
c.5105del
c.11703del (p.Asn3902ThrfsTer?)
c.11733del (p.Asn3912ThrfsTer?)
 dbSNP gnomAD v2
19g.38543393T>ACA507354635RYR1c.146T>A
c.128T>A
c.11736T>A (p.Ile3912=)
c.11721T>A (p.Ile3907=)
c.11718T>A (p.Ile3906=)
c.345T>A
c.5105T>A
c.11703T>A (p.Ile3901=)
c.11733T>A (p.Ile3911=)
19g.38543393T>CCA507354636RYR1c.146T>C
c.128T>C
c.11736T>C (p.Ile3912=)
c.11721T>C (p.Ile3907=)
c.11718T>C (p.Ile3906=)
c.345T>C
c.5105T>C
c.11703T>C (p.Ile3901=)
c.11733T>C (p.Ile3911=)
19g.38543393T>GCA405661247RYR1c.146T>G
c.128T>G
c.11736T>G (p.Ile3912Met)
c.11721T>G (p.Ile3907Met)
c.11718T>G (p.Ile3906Met)
c.345T>G
c.5105T>G
c.11703T>G (p.Ile3901Met)
c.11733T>G (p.Ile3911Met)
19g.38543394A>CCA405661249RYR1c.147A>C
c.129A>C
c.11737A>C (p.Asn3913His)
c.11722A>C (p.Asn3908His)
c.11719A>C (p.Asn3907His)
c.346A>C
c.5106A>C
c.11704A>C (p.Asn3902His)
c.11734A>C (p.Asn3912His)
19g.38543394A>GCA405661253RYR1c.147A>G
c.129A>G
c.11737A>G (p.Asn3913Asp)
c.11722A>G (p.Asn3908Asp)
c.11719A>G (p.Asn3907Asp)
c.346A>G
c.5106A>G
c.11704A>G (p.Asn3902Asp)
c.11734A>G (p.Asn3912Asp)
19g.38543394A>TCA405661256RYR1c.147A>T
c.129A>T
c.11737A>T (p.Asn3913Tyr)
c.11722A>T (p.Asn3908Tyr)
c.11719A>T (p.Asn3907Tyr)
c.346A>T
c.5106A>T
c.11704A>T (p.Asn3902Tyr)
c.11734A>T (p.Asn3912Tyr)
19g.38543395A>CCA405661259RYR1c.148A>C
c.130A>C
c.11738A>C (p.Asn3913Thr)
c.11723A>C (p.Asn3908Thr)
c.11720A>C (p.Asn3907Thr)
c.347A>C
c.5107A>C
c.11705A>C (p.Asn3902Thr)
c.11735A>C (p.Asn3912Thr)
19g.38543395A>GCA405661260RYR1c.148A>G
c.130A>G
c.11738A>G (p.Asn3913Ser)
c.11723A>G (p.Asn3908Ser)
c.11720A>G (p.Asn3907Ser)
c.347A>G
c.5107A>G
c.11705A>G (p.Asn3902Ser)
c.11735A>G (p.Asn3912Ser)
19g.38543395A>TCA405661261RYR1c.148A>T
c.130A>T
c.11738A>T (p.Asn3913Ile)
c.11723A>T (p.Asn3908Ile)
c.11720A>T (p.Asn3907Ile)
c.347A>T
c.5107A>T
c.11705A>T (p.Asn3902Ile)
c.11735A>T (p.Asn3912Ile)
19g.38543395_38543398delinsACATCA2335074322RYR1c.148_151delinsACAT
c.130_133delinsACAT
c.11738_11741delinsACAT (p.Asn3913=)
c.11723_11726delinsACAT (p.Asn3908=)
c.11720_11723delinsACAT (p.Asn3907=)
c.347_350delinsACAT
c.5107_5110delinsACAT
c.11705_11708delinsACAT (p.Asn3902=)
c.11735_11738delinsACAT (p.Asn3912=)
19g.38543396C>ACA405661262RYR1c.149C>A
c.131C>A
c.11739C>A (p.Asn3913Lys)
c.11724C>A (p.Asn3908Lys)
c.11721C>A (p.Asn3907Lys)
c.348C>A
c.5108C>A
c.11706C>A (p.Asn3902Lys)
c.11736C>A (p.Asn3912Lys)
19g.38543396C=CA2335074324RYR1c.149C=
c.131C=
c.11739C= (p.Asn3913=)
c.11724C= (p.Asn3908=)
c.11721C= (p.Asn3907=)
c.348C=
c.5108C=
c.11706C= (p.Asn3902=)
c.11736C= (p.Asn3912=)
19g.38543396C>GCA405661263RYR1c.149C>G
c.131C>G
c.11739C>G (p.Asn3913Lys)
c.11724C>G (p.Asn3908Lys)
c.11721C>G (p.Asn3907Lys)
c.348C>G
c.5108C>G
c.11706C>G (p.Asn3902Lys)
c.11736C>G (p.Asn3912Lys)
19g.38543396C>TCA057572RYR1c.149C>T
c.131C>T
c.11739C>T (p.Asn3913=)
c.11724C>T (p.Asn3908=)
c.11721C>T (p.Asn3907=)
c.348C>T
c.5108C>T
c.11706C>T (p.Asn3902=)
c.11736C>T (p.Asn3912=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38543402_38543404delCA2335074323RYR1c.155_157del
c.137_139del
c.11745_11747del (p.Ile3916del)
c.11730_11732del (p.Ile3911del)
c.11727_11729del (p.Ile3910del)
c.354_356del
c.5114_5116del
c.11712_11714del (p.Ile3905del)
c.11742_11744del (p.Ile3915del)
 dbSNP gnomAD v4
19g.38543397A>CCA405661264RYR1c.150A>C
c.132A>C
c.11740A>C (p.Ile3914Leu)
c.11725A>C (p.Ile3909Leu)
c.11722A>C (p.Ile3908Leu)
c.349A>C
c.5109A>C
c.11707A>C (p.Ile3903Leu)
c.11737A>C (p.Ile3913Leu)
19g.38543397A>GCA405661265RYR1c.150A>G
c.132A>G
c.11740A>G (p.Ile3914Val)
c.11725A>G (p.Ile3909Val)
c.11722A>G (p.Ile3908Val)
c.349A>G
c.5109A>G
c.11707A>G (p.Ile3903Val)
c.11737A>G (p.Ile3913Val)
19g.38543397A>TCA405661266RYR1c.150A>T
c.132A>T
c.11740A>T (p.Ile3914Phe)
c.11725A>T (p.Ile3909Phe)
c.11722A>T (p.Ile3908Phe)
c.349A>T
c.5109A>T
c.11707A>T (p.Ile3903Phe)
c.11737A>T (p.Ile3913Phe)
19g.38543398T>ACA405661270RYR1c.151T>A
c.133T>A
c.11741T>A (p.Ile3914Asn)
c.11726T>A (p.Ile3909Asn)
c.11723T>A (p.Ile3908Asn)
c.350T>A
c.5110T>A
c.11708T>A (p.Ile3903Asn)
c.11738T>A (p.Ile3913Asn)
19g.38543398T>CCA405661272RYR1c.151T>C
c.133T>C
c.11741T>C (p.Ile3914Thr)
c.11726T>C (p.Ile3909Thr)
c.11723T>C (p.Ile3908Thr)
c.350T>C
c.5110T>C
c.11708T>C (p.Ile3903Thr)
c.11738T>C (p.Ile3913Thr)
 gnomAD v4
19g.38543398T>GCA405661269RYR1c.151T>G
c.133T>G
c.11741T>G (p.Ile3914Ser)
c.11726T>G (p.Ile3909Ser)
c.11723T>G (p.Ile3908Ser)
c.350T>G
c.5110T>G
c.11708T>G (p.Ile3903Ser)
c.11738T>G (p.Ile3913Ser)
19g.38543399C>ACA507354640RYR1c.152C>A
c.134C>A
c.11742C>A (p.Ile3914=)
c.11727C>A (p.Ile3909=)
c.11724C>A (p.Ile3908=)
c.351C>A
c.5111C>A
c.11709C>A (p.Ile3903=)
c.11739C>A (p.Ile3913=)
19g.38543399C=CA2335074325RYR1c.152C=
c.134C=
c.11742C= (p.Ile3914=)
c.11727C= (p.Ile3909=)
c.11724C= (p.Ile3908=)
c.351C=
c.5111C=
c.11709C= (p.Ile3903=)
c.11739C= (p.Ile3913=)
19g.38543399C>GCA405661275RYR1c.152C>G
c.134C>G
c.11742C>G (p.Ile3914Met)
c.11727C>G (p.Ile3909Met)
c.11724C>G (p.Ile3908Met)
c.351C>G
c.5111C>G
c.11709C>G (p.Ile3903Met)
c.11739C>G (p.Ile3913Met)
 ClinVar gnomAD v4
19g.38543399C>TCA080417RYR1c.152C>T
c.134C>T
c.11742C>T (p.Ile3914=)
c.11727C>T (p.Ile3909=)
c.11724C>T (p.Ile3908=)
c.351C>T
c.5111C>T
c.11709C>T (p.Ile3903=)
c.11739C>T (p.Ile3913=)
 dbSNP
19g.38543400A>CCA405661278RYR1c.153A>C
c.135A>C
c.11743A>C (p.Ile3915Leu)
c.11728A>C (p.Ile3910Leu)
c.11725A>C (p.Ile3909Leu)
c.352A>C
c.5112A>C
c.11710A>C (p.Ile3904Leu)
c.11740A>C (p.Ile3914Leu)
19g.38543400A>GCA405661280RYR1c.153A>G
c.135A>G
c.11743A>G (p.Ile3915Val)
c.11728A>G (p.Ile3910Val)
c.11725A>G (p.Ile3909Val)
c.352A>G
c.5112A>G
c.11710A>G (p.Ile3904Val)
c.11740A>G (p.Ile3914Val)
19g.38543400A>TCA405661282RYR1c.153A>T
c.135A>T
c.11743A>T (p.Ile3915Phe)
c.11728A>T (p.Ile3910Phe)
c.11725A>T (p.Ile3909Phe)
c.352A>T
c.5112A>T
c.11710A>T (p.Ile3904Phe)
c.11740A>T (p.Ile3914Phe)
19g.38543400_38543401delinsATCA2335074326RYR1c.153_154delinsAT
c.135_136delinsAT
c.11743_11744delinsAT (p.Ile3915=)
c.11728_11729delinsAT (p.Ile3910=)
c.11725_11726delinsAT (p.Ile3909=)
c.352_353delinsAT
c.5112_5113delinsAT
c.11710_11711delinsAT (p.Ile3904=)
c.11740_11741delinsAT (p.Ile3914=)
19g.38543401delCA633066750RYR1c.154del
c.136del
c.11744del (p.Ile3915ThrfsTer?)
c.11729del (p.Ile3910ThrfsTer?)
c.11726del (p.Ile3909ThrfsTer?)
c.353del
c.5113del
c.11711del (p.Ile3904ThrfsTer?)
c.11741del (p.Ile3914ThrfsTer?)
 dbSNP gnomAD v2 gnomAD v4
19g.38543401T>ACA405661288RYR1c.154T>A
c.136T>A
c.11744T>A (p.Ile3915Asn)
c.11729T>A (p.Ile3910Asn)
c.11726T>A (p.Ile3909Asn)
c.353T>A
c.5113T>A
c.11711T>A (p.Ile3904Asn)
c.11741T>A (p.Ile3914Asn)
19g.38543401T>CCA405661286RYR1c.154T>C
c.136T>C
c.11744T>C (p.Ile3915Thr)
c.11729T>C (p.Ile3910Thr)
c.11726T>C (p.Ile3909Thr)
c.353T>C
c.5113T>C
c.11711T>C (p.Ile3904Thr)
c.11741T>C (p.Ile3914Thr)
19g.38543401T>GCA405661284RYR1c.154T>G
c.136T>G
c.11744T>G (p.Ile3915Ser)
c.11729T>G (p.Ile3910Ser)
c.11726T>G (p.Ile3909Ser)
c.353T>G
c.5113T>G
c.11711T>G (p.Ile3904Ser)
c.11741T>G (p.Ile3914Ser)
19g.38543402C>ACA507354642RYR1c.155C>A
c.137C>A
c.11745C>A (p.Ile3915=)
c.11730C>A (p.Ile3910=)
c.11727C>A (p.Ile3909=)
c.354C>A
c.5114C>A
c.11712C>A (p.Ile3904=)
c.11742C>A (p.Ile3914=)
 dbSNP
19g.38543402C=CA2335074328RYR1c.155C=
c.137C=
c.11745C= (p.Ile3915=)
c.11730C= (p.Ile3910=)
c.11727C= (p.Ile3909=)
c.354C=
c.5114C=
c.11712C= (p.Ile3904=)
c.11742C= (p.Ile3914=)
19g.38543402C>GCA405661290RYR1c.155C>G
c.137C>G
c.11745C>G (p.Ile3915Met)
c.11730C>G (p.Ile3910Met)
c.11727C>G (p.Ile3909Met)
c.354C>G
c.5114C>G
c.11712C>G (p.Ile3904Met)
c.11742C>G (p.Ile3914Met)
19g.38543402C>TCA507354644RYR1c.155C>T
c.137C>T
c.11745C>T (p.Ile3915=)
c.11730C>T (p.Ile3910=)
c.11727C>T (p.Ile3909=)
c.354C>T
c.5114C>T
c.11712C>T (p.Ile3904=)
c.11742C>T (p.Ile3914=)
19g.38543402_38543405delinsCATTCA2335074327RYR1c.155_158delinsCATT
c.137_140delinsCATT
c.11745_11748delinsCATT (p.Ile3915=)
c.11730_11733delinsCATT (p.Ile3910=)
c.11727_11730delinsCATT (p.Ile3909=)
c.354_357delinsCATT
c.5114_5117delinsCATT
c.11712_11715delinsCATT (p.Ile3904=)
c.11742_11745delinsCATT (p.Ile3914=)
19g.38543403A=CA2335074329RYR1c.156A=
c.138A=
c.11746A= (p.Ile3916=)
c.11731A= (p.Ile3911=)
c.11728A= (p.Ile3910=)
c.355A=
c.5115A=
c.11713A= (p.Ile3905=)
c.11743A= (p.Ile3915=)
19g.38543403A>CCA405661293RYR1c.156A>C
c.138A>C
c.11746A>C (p.Ile3916Leu)
c.11731A>C (p.Ile3911Leu)
c.11728A>C (p.Ile3910Leu)
c.355A>C
c.5115A>C
c.11713A>C (p.Ile3905Leu)
c.11743A>C (p.Ile3915Leu)
19g.38543403A>GCA057583RYR1c.156A>G
c.138A>G
c.11746A>G (p.Ile3916Val)
c.11731A>G (p.Ile3911Val)
c.11728A>G (p.Ile3910Val)
c.355A>G
c.5115A>G
c.11713A>G (p.Ile3905Val)
c.11743A>G (p.Ile3915Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38543403A>TCA405661297RYR1c.156A>T
c.138A>T
c.11746A>T (p.Ile3916Phe)
c.11731A>T (p.Ile3911Phe)
c.11728A>T (p.Ile3910Phe)
c.355A>T
c.5115A>T
c.11713A>T (p.Ile3905Phe)
c.11743A>T (p.Ile3915Phe)
19g.38543403_38543405delCA633066751RYR1c.156_158del
c.138_140del
c.11746_11748del (p.Ile3916del)
c.11731_11733del (p.Ile3911del)
c.11728_11730del (p.Ile3910del)
c.355_357del
c.5115_5117del
c.11713_11715del (p.Ile3905del)
c.11743_11745del (p.Ile3915del)
 dbSNP gnomAD v2 gnomAD v4
19g.38543404T>ACA405661299RYR1c.157T>A
c.139T>A
c.11747T>A (p.Ile3916Asn)
c.11732T>A (p.Ile3911Asn)
c.11729T>A (p.Ile3910Asn)
c.356T>A
c.5116T>A
c.11714T>A (p.Ile3905Asn)
c.11744T>A (p.Ile3915Asn)
19g.38543404T>CCA405661301RYR1c.157T>C
c.139T>C
c.11747T>C (p.Ile3916Thr)
c.11732T>C (p.Ile3911Thr)
c.11729T>C (p.Ile3910Thr)
c.356T>C
c.5116T>C
c.11714T>C (p.Ile3905Thr)
c.11744T>C (p.Ile3915Thr)
19g.38543404T>GCA405661303RYR1c.157T>G
c.139T>G
c.11747T>G (p.Ile3916Ser)
c.11732T>G (p.Ile3911Ser)
c.11729T>G (p.Ile3910Ser)
c.356T>G
c.5116T>G
c.11714T>G (p.Ile3905Ser)
c.11744T>G (p.Ile3915Ser)
19g.38543405T>ACA507354647RYR1c.158T>A
c.140T>A
c.11748T>A (p.Ile3916=)
c.11733T>A (p.Ile3911=)
c.11730T>A (p.Ile3910=)
c.357T>A
c.5117T>A
c.11715T>A (p.Ile3905=)
c.11745T>A (p.Ile3915=)
19g.38543405T>CCA507354648RYR1c.158T>C
c.140T>C
c.11748T>C (p.Ile3916=)
c.11733T>C (p.Ile3911=)
c.11730T>C (p.Ile3910=)
c.357T>C
c.5117T>C
c.11715T>C (p.Ile3905=)
c.11745T>C (p.Ile3915=)
19g.38543405T>GCA023930RYR1c.158T>G
c.140T>G
c.11748T>G (p.Ile3916Met)
c.11733T>G (p.Ile3911Met)
c.11730T>G (p.Ile3910Met)
c.357T>G
c.5117T>G
c.11715T>G (p.Ile3905Met)
c.11745T>G (p.Ile3915Met)
 ClinVar dbSNP gnomAD v4
19g.38543405T=CA2335074330RYR1c.158T=
c.140T=
c.11748T= (p.Ile3916=)
c.11733T= (p.Ile3911=)
c.11730T= (p.Ile3910=)
c.357T=
c.5117T=
c.11715T= (p.Ile3905=)
c.11745T= (p.Ile3915=)
19g.38543406T>ACA405661310RYR1c.159T>A
c.141T>A
c.11749T>A (p.Cys3917Ser)
c.11734T>A (p.Cys3912Ser)
c.11731T>A (p.Cys3911Ser)
c.358T>A
c.5118T>A
c.11716T>A (p.Cys3906Ser)
c.11746T>A (p.Cys3916Ser)
19g.38543406T>CCA405661306RYR1c.159T>C
c.141T>C
c.11749T>C (p.Cys3917Arg)
c.11734T>C (p.Cys3912Arg)
c.11731T>C (p.Cys3911Arg)
c.358T>C
c.5118T>C
c.11716T>C (p.Cys3906Arg)
c.11746T>C (p.Cys3916Arg)
19g.38543406T>GCA405661308RYR1c.159T>G
c.141T>G
c.11749T>G (p.Cys3917Gly)
c.11734T>G (p.Cys3912Gly)
c.11731T>G (p.Cys3911Gly)
c.358T>G
c.5118T>G
c.11716T>G (p.Cys3906Gly)
c.11746T>G (p.Cys3916Gly)
19g.38543407G>ACA405661312RYR1c.160G>A
c.142G>A
c.11750G>A (p.Cys3917Tyr)
c.11735G>A (p.Cys3912Tyr)
c.11732G>A (p.Cys3911Tyr)
c.359G>A
c.5119G>A
c.11717G>A (p.Cys3906Tyr)
c.11747G>A (p.Cys3916Tyr)
 ClinVar dbSNP
19g.38543407G>CCA405661314RYR1c.160G>C
c.142G>C
c.11750G>C (p.Cys3917Ser)
c.11735G>C (p.Cys3912Ser)
c.11732G>C (p.Cys3911Ser)
c.359G>C
c.5119G>C
c.11717G>C (p.Cys3906Ser)
c.11747G>C (p.Cys3916Ser)
19g.38543407G=CA2335074331RYR1c.160G=
c.142G=
c.11750G= (p.Cys3917=)
c.11735G= (p.Cys3912=)
c.11732G= (p.Cys3911=)
c.359G=
c.5119G=
c.11717G= (p.Cys3906=)
c.11747G= (p.Cys3916=)
19g.38543407G>TCA405661316RYR1c.160G>T
c.142G>T
c.11750G>T (p.Cys3917Phe)
c.11735G>T (p.Cys3912Phe)
c.11732G>T (p.Cys3911Phe)
c.359G>T
c.5119G>T
c.11717G>T (p.Cys3906Phe)
c.11747G>T (p.Cys3916Phe)
19g.38543408C>ACA405661317RYR1c.161C>A
c.143C>A
c.11751C>A (p.Cys3917Ter)
c.11736C>A (p.Cys3912Ter)
c.11733C>A (p.Cys3911Ter)
c.360C>A
c.5120C>A
c.11718C>A (p.Cys3906Ter)
c.11748C>A (p.Cys3916Ter)
19g.38543408C=CA2335074332RYR1c.161C=
c.143C=
c.11751C= (p.Cys3917=)
c.11736C= (p.Cys3912=)
c.11733C= (p.Cys3911=)
c.360C=
c.5120C=
c.11718C= (p.Cys3906=)
c.11748C= (p.Cys3916=)
19g.38543408C>GCA405661319RYR1c.161C>G
c.143C>G
c.11751C>G (p.Cys3917Trp)
c.11736C>G (p.Cys3912Trp)
c.11733C>G (p.Cys3911Trp)
c.360C>G
c.5120C>G
c.11718C>G (p.Cys3906Trp)
c.11748C>G (p.Cys3916Trp)
19g.38543408C>TCA057590RYR1c.161C>T
c.143C>T
c.11751C>T (p.Cys3917=)
c.11736C>T (p.Cys3912=)
c.11733C>T (p.Cys3911=)
c.360C>T
c.5120C>T
c.11718C>T (p.Cys3906=)
c.11748C>T (p.Cys3916=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38543409A>CCA405661323RYR1c.162A>C
c.144A>C
c.11752A>C (p.Thr3918Pro)
c.11737A>C (p.Thr3913Pro)
c.11734A>C (p.Thr3912Pro)
c.361A>C
c.5121A>C
c.11719A>C (p.Thr3907Pro)
c.11749A>C (p.Thr3917Pro)
 gnomAD v4
19g.38543409A>GCA405661328RYR1c.162A>G
c.144A>G
c.11752A>G (p.Thr3918Ala)
c.11737A>G (p.Thr3913Ala)
c.11734A>G (p.Thr3912Ala)
c.361A>G
c.5121A>G
c.11719A>G (p.Thr3907Ala)
c.11749A>G (p.Thr3917Ala)
 gnomAD v4
19g.38543409A>TCA405661326RYR1c.162A>T
c.144A>T
c.11752A>T (p.Thr3918Ser)
c.11737A>T (p.Thr3913Ser)
c.11734A>T (p.Thr3912Ser)
c.361A>T
c.5121A>T
c.11719A>T (p.Thr3907Ser)
c.11749A>T (p.Thr3917Ser)
19g.38543410C>ACA405661330RYR1c.163C>A
c.145C>A
c.11753C>A (p.Thr3918Asn)
c.11738C>A (p.Thr3913Asn)
c.11735C>A (p.Thr3912Asn)
c.362C>A
c.5122C>A
c.11720C>A (p.Thr3907Asn)
c.11750C>A (p.Thr3917Asn)
19g.38543410C>GCA405661332RYR1c.163C>G
c.145C>G
c.11753C>G (p.Thr3918Ser)
c.11738C>G (p.Thr3913Ser)
c.11735C>G (p.Thr3912Ser)
c.362C>G
c.5122C>G
c.11720C>G (p.Thr3907Ser)
c.11750C>G (p.Thr3917Ser)
19g.38543410C>TCA405661334RYR1c.163C>T
c.145C>T
c.11753C>T (p.Thr3918Ile)
c.11738C>T (p.Thr3913Ile)
c.11735C>T (p.Thr3912Ile)
c.362C>T
c.5122C>T
c.11720C>T (p.Thr3907Ile)
c.11750C>T (p.Thr3917Ile)
19g.38543411T>ACA023932RYR1c.164T>A
c.146T>A
c.11754T>A (p.Thr3918=)
c.11739T>A (p.Thr3913=)
c.11736T>A (p.Thr3912=)
c.363T>A
c.5123T>A
c.11721T>A (p.Thr3907=)
c.11751T>A (p.Thr3917=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38543411T>CCA507354744RYR1c.164T>C
c.146T>C
c.11754T>C (p.Thr3918=)
c.11739T>C (p.Thr3913=)
c.11736T>C (p.Thr3912=)
c.363T>C
c.5123T>C
c.11721T>C (p.Thr3907=)
c.11751T>C (p.Thr3917=)
19g.38543411T>GCA308092002RYR1c.164T>G
c.146T>G
c.11754T>G (p.Thr3918=)
c.11739T>G (p.Thr3913=)
c.11736T>G (p.Thr3912=)
c.363T>G
c.5123T>G
c.11721T>G (p.Thr3907=)
c.11751T>G (p.Thr3917=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38543411T=CA2335074333RYR1c.164T=
c.146T=
c.11754T= (p.Thr3918=)
c.11739T= (p.Thr3913=)
c.11736T= (p.Thr3912=)
c.363T=
c.5123T=
c.11721T= (p.Thr3907=)
c.11751T= (p.Thr3917=)
19g.38543412G>ACA405661337RYR1c.165G>A
c.147G>A
c.11755G>A (p.Val3919Met)
c.11740G>A (p.Val3914Met)
c.11737G>A (p.Val3913Met)
c.364G>A
c.5124G>A
c.11722G>A (p.Val3908Met)
c.11752G>A (p.Val3918Met)
19g.38543412G>CCA405661340RYR1c.165G>C
c.147G>C
c.11755G>C (p.Val3919Leu)
c.11740G>C (p.Val3914Leu)
c.11737G>C (p.Val3913Leu)
c.364G>C
c.5124G>C
c.11722G>C (p.Val3908Leu)
c.11752G>C (p.Val3918Leu)
19g.38543412G>TCA405661339RYR1c.165G>T
c.147G>T
c.11755G>T (p.Val3919Leu)
c.11740G>T (p.Val3914Leu)
c.11737G>T (p.Val3913Leu)
c.364G>T
c.5124G>T
c.11722G>T (p.Val3908Leu)
c.11752G>T (p.Val3918Leu)
 ClinVar
19g.38543413T>ACA405661343RYR1c.166T>A
c.148T>A
c.11756T>A (p.Val3919Glu)
c.11741T>A (p.Val3914Glu)
c.11738T>A (p.Val3913Glu)
c.365T>A
c.5125T>A
c.11723T>A (p.Val3908Glu)
c.11753T>A (p.Val3918Glu)
19g.38543413T>CCA405661345RYR1c.166T>C
c.148T>C
c.11756T>C (p.Val3919Ala)
c.11741T>C (p.Val3914Ala)
c.11738T>C (p.Val3913Ala)
c.365T>C
c.5125T>C
c.11723T>C (p.Val3908Ala)
c.11753T>C (p.Val3918Ala)
19g.38543413T>GCA405661347RYR1c.166T>G
c.148T>G
c.11756T>G (p.Val3919Gly)
c.11741T>G (p.Val3914Gly)
c.11738T>G (p.Val3913Gly)
c.365T>G
c.5125T>G
c.11723T>G (p.Val3908Gly)
c.11753T>G (p.Val3918Gly)
19g.38543414G>ACA507354750RYR1c.167G>A
c.149G>A
c.11757G>A (p.Val3919=)
c.11742G>A (p.Val3914=)
c.11739G>A (p.Val3913=)
c.366G>A
c.5126G>A
c.11724G>A (p.Val3908=)
c.11754G>A (p.Val3918=)
 dbSNP gnomAD v3 gnomAD v4
19g.38543414G>CCA507354751RYR1c.167G>C
c.149G>C
c.11757G>C (p.Val3919=)
c.11742G>C (p.Val3914=)
c.11739G>C (p.Val3913=)
c.366G>C
c.5126G>C
c.11724G>C (p.Val3908=)
c.11754G>C (p.Val3918=)
19g.38543414G>TCA507354752RYR1c.167G>T
c.149G>T
c.11757G>T (p.Val3919=)
c.11742G>T (p.Val3914=)
c.11739G>T (p.Val3913=)
c.366G>T
c.5126G>T
c.11724G>T (p.Val3908=)
c.11754G>T (p.Val3918=)
19g.38543415G>ACA405661351RYR1c.168G>A
c.150G>A
c.11758G>A (p.Asp3920Asn)
c.11743G>A (p.Asp3915Asn)
c.11740G>A (p.Asp3914Asn)
c.367G>A
c.5127G>A
c.11725G>A (p.Asp3909Asn)
c.11755G>A (p.Asp3919Asn)
 dbSNP
19g.38543415G>CCA405661353RYR1c.168G>C
c.150G>C
c.11758G>C (p.Asp3920His)
c.11743G>C (p.Asp3915His)
c.11740G>C (p.Asp3914His)
c.367G>C
c.5127G>C
c.11725G>C (p.Asp3909His)
c.11755G>C (p.Asp3919His)
19g.38543415G=CA2335074334RYR1c.168G=
c.150G=
c.11758G= (p.Asp3920=)
c.11743G= (p.Asp3915=)
c.11740G= (p.Asp3914=)
c.367G=
c.5127G=
c.11725G= (p.Asp3909=)
c.11755G= (p.Asp3919=)
19g.38543415G>TCA405661355RYR1c.168G>T
c.150G>T
c.11758G>T (p.Asp3920Tyr)
c.11743G>T (p.Asp3915Tyr)
c.11740G>T (p.Asp3914Tyr)
c.367G>T
c.5127G>T
c.11725G>T (p.Asp3909Tyr)
c.11755G>T (p.Asp3919Tyr)
 dbSNP gnomAD v2 gnomAD v4
19g.38543416A>CCA405661358RYR1c.169A>C
c.151A>C
c.11759A>C (p.Asp3920Ala)
c.11744A>C (p.Asp3915Ala)
c.11741A>C (p.Asp3914Ala)
c.368A>C
c.5128A>C
c.11726A>C (p.Asp3909Ala)
c.11756A>C (p.Asp3919Ala)
19g.38543416A>GCA405661359RYR1c.169A>G
c.151A>G
c.11759A>G (p.Asp3920Gly)
c.11744A>G (p.Asp3915Gly)
c.11741A>G (p.Asp3914Gly)
c.368A>G
c.5128A>G
c.11726A>G (p.Asp3909Gly)
c.11756A>G (p.Asp3919Gly)
19g.38543416A>TCA405661361RYR1c.169A>T
c.151A>T
c.11759A>T (p.Asp3920Val)
c.11744A>T (p.Asp3915Val)
c.11741A>T (p.Asp3914Val)
c.368A>T
c.5128A>T
c.11726A>T (p.Asp3909Val)
c.11756A>T (p.Asp3919Val)
19g.38543417C>ACA405661363RYR1c.170C>A
c.152C>A
c.11760C>A (p.Asp3920Glu)
c.11745C>A (p.Asp3915Glu)
c.11742C>A (p.Asp3914Glu)
c.369C>A
c.5129C>A
c.11727C>A (p.Asp3909Glu)
c.11757C>A (p.Asp3919Glu)
19g.38543417C=CA2335074335RYR1c.170C=
c.152C=
c.11760C= (p.Asp3920=)
c.11745C= (p.Asp3915=)
c.11742C= (p.Asp3914=)
c.369C=
c.5129C=
c.11727C= (p.Asp3909=)
c.11757C= (p.Asp3919=)
19g.38543417C>GCA405661365RYR1c.170C>G
c.152C>G
c.11760C>G (p.Asp3920Glu)
c.11745C>G (p.Asp3915Glu)
c.11742C>G (p.Asp3914Glu)
c.369C>G
c.5129C>G
c.11727C>G (p.Asp3909Glu)
c.11757C>G (p.Asp3919Glu)
 ClinVar dbSNP
19g.38543417C>TCA507354754RYR1c.170C>T
c.152C>T
c.11760C>T (p.Asp3920=)
c.11745C>T (p.Asp3915=)
c.11742C>T (p.Asp3914=)
c.369C>T
c.5129C>T
c.11727C>T (p.Asp3909=)
c.11757C>T (p.Asp3919=)
 gnomAD v4
19g.38543418T>ACA405661366RYR1c.171T>A
c.153T>A
c.11761T>A (p.Tyr3921Asn)
c.11746T>A (p.Tyr3916Asn)
c.11743T>A (p.Tyr3915Asn)
c.370T>A
c.5130T>A
c.11728T>A (p.Tyr3910Asn)
c.11758T>A (p.Tyr3920Asn)
19g.38543418T>CCA405661370RYR1c.171T>C
c.153T>C
c.11761T>C (p.Tyr3921His)
c.11746T>C (p.Tyr3916His)
c.11743T>C (p.Tyr3915His)
c.370T>C
c.5130T>C
c.11728T>C (p.Tyr3910His)
c.11758T>C (p.Tyr3920His)
 ClinVar
19g.38543418T>GCA405661368RYR1c.171T>G
c.153T>G
c.11761T>G (p.Tyr3921Asp)
c.11746T>G (p.Tyr3916Asp)
c.11743T>G (p.Tyr3915Asp)
c.370T>G
c.5130T>G
c.11728T>G (p.Tyr3910Asp)
c.11758T>G (p.Tyr3920Asp)
19g.38543419A=CA2335074336RYR1c.172A=
c.154A=
c.11762A= (p.Tyr3921=)
c.11747A= (p.Tyr3916=)
c.11744A= (p.Tyr3915=)
c.371A=
c.5131A=
c.11729A= (p.Tyr3910=)
c.11759A= (p.Tyr3920=)
19g.38543419A>CCA405661373RYR1c.172A>C
c.154A>C
c.11762A>C (p.Tyr3921Ser)
c.11747A>C (p.Tyr3916Ser)
c.11744A>C (p.Tyr3915Ser)
c.371A>C
c.5131A>C
c.11729A>C (p.Tyr3910Ser)
c.11759A>C (p.Tyr3920Ser)
 dbSNP
19g.38543419A>GCA405661378RYR1c.172A>G
c.154A>G
c.11762A>G (p.Tyr3921Cys)
c.11747A>G (p.Tyr3916Cys)
c.11744A>G (p.Tyr3915Cys)
c.371A>G
c.5131A>G
c.11729A>G (p.Tyr3910Cys)
c.11759A>G (p.Tyr3920Cys)
19g.38543419A>TCA405661375RYR1c.172A>T
c.154A>T
c.11762A>T (p.Tyr3921Phe)
c.11747A>T (p.Tyr3916Phe)
c.11744A>T (p.Tyr3915Phe)
c.371A>T
c.5131A>T
c.11729A>T (p.Tyr3910Phe)
c.11759A>T (p.Tyr3920Phe)
19g.38543420C>ACA023934RYR1c.173C>A
c.155C>A
c.11763C>A (p.Tyr3921Ter)
c.11748C>A (p.Tyr3916Ter)
c.11745C>A (p.Tyr3915Ter)
c.372C>A
c.5132C>A
c.11730C>A (p.Tyr3910Ter)
c.11760C>A (p.Tyr3920Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38543420C=CA2335074337RYR1c.173C=
c.155C=
c.11763C= (p.Tyr3921=)
c.11748C= (p.Tyr3916=)
c.11745C= (p.Tyr3915=)
c.372C=
c.5132C=
c.11730C= (p.Tyr3910=)
c.11760C= (p.Tyr3920=)
19g.38543420C>GCA405661392RYR1c.173C>G
c.155C>G
c.11763C>G (p.Tyr3921Ter)
c.11748C>G (p.Tyr3916Ter)
c.11745C>G (p.Tyr3915Ter)
c.372C>G
c.5132C>G
c.11730C>G (p.Tyr3910Ter)
c.11760C>G (p.Tyr3920Ter)
19g.38543420C>TCA507354760RYR1c.173C>T
c.155C>T
c.11763C>T (p.Tyr3921=)
c.11748C>T (p.Tyr3916=)
c.11745C>T (p.Tyr3915=)
c.372C>T
c.5132C>T
c.11730C>T (p.Tyr3910=)
c.11760C>T (p.Tyr3920=)
19g.38543421C>ACA405661395RYR1c.174C>A
c.156C>A
c.11764C>A (p.Leu3922Ile)
c.11749C>A (p.Leu3917Ile)
c.11746C>A (p.Leu3916Ile)
c.373C>A
c.5133C>A
c.11731C>A (p.Leu3911Ile)
c.11761C>A (p.Leu3921Ile)
19g.38543421C>GCA405661397RYR1c.174C>G
c.156C>G
c.11764C>G (p.Leu3922Val)
c.11749C>G (p.Leu3917Val)
c.11746C>G (p.Leu3916Val)
c.373C>G
c.5133C>G
c.11731C>G (p.Leu3911Val)
c.11761C>G (p.Leu3921Val)
19g.38543421C>TCA405661400RYR1c.174C>T
c.156C>T
c.11764C>T (p.Leu3922Phe)
c.11749C>T (p.Leu3917Phe)
c.11746C>T (p.Leu3916Phe)
c.373C>T
c.5133C>T
c.11731C>T (p.Leu3911Phe)
c.11761C>T (p.Leu3921Phe)
19g.38543422T>ACA405661404RYR1c.175T>A
c.157T>A
c.11765T>A (p.Leu3922His)
c.11750T>A (p.Leu3917His)
c.11747T>A (p.Leu3916His)
c.374T>A
c.5134T>A
c.11732T>A (p.Leu3911His)
c.11762T>A (p.Leu3921His)
19g.38543422T>CCA405661406RYR1c.175T>C
c.157T>C
c.11765T>C (p.Leu3922Pro)
c.11750T>C (p.Leu3917Pro)
c.11747T>C (p.Leu3916Pro)
c.374T>C
c.5134T>C
c.11732T>C (p.Leu3911Pro)
c.11762T>C (p.Leu3921Pro)
19g.38543422T>GCA405661409RYR1c.175T>G
c.157T>G
c.11765T>G (p.Leu3922Arg)
c.11750T>G (p.Leu3917Arg)
c.11747T>G (p.Leu3916Arg)
c.374T>G
c.5134T>G
c.11732T>G (p.Leu3911Arg)
c.11762T>G (p.Leu3921Arg)
19g.38543423C>ACA080423RYR1c.176C>A
c.158C>A
c.11766C>A (p.Leu3922=)
c.11751C>A (p.Leu3917=)
c.11748C>A (p.Leu3916=)
c.375C>A
c.5135C>A
c.11733C>A (p.Leu3911=)
c.11763C>A (p.Leu3921=)
19g.38543423C>GCA507354767RYR1c.176C>G
c.158C>G
c.11766C>G (p.Leu3922=)
c.11751C>G (p.Leu3917=)
c.11748C>G (p.Leu3916=)
c.375C>G
c.5135C>G
c.11733C>G (p.Leu3911=)
c.11763C>G (p.Leu3921=)
19g.38543423C>TCA507354768RYR1c.176C>T
c.158C>T
c.11766C>T (p.Leu3922=)
c.11751C>T (p.Leu3917=)
c.11748C>T (p.Leu3916=)
c.375C>T
c.5135C>T
c.11733C>T (p.Leu3911=)
c.11763C>T (p.Leu3921=)
19g.38543424C>ACA405661412RYR1c.177C>A
c.159C>A
c.11767C>A (p.Leu3923Met)
c.11752C>A (p.Leu3918Met)
c.11749C>A (p.Leu3917Met)
c.376C>A
c.5136C>A
c.11734C>A (p.Leu3912Met)
c.11764C>A (p.Leu3922Met)
19g.38543424C>GCA405661413RYR1c.177C>G
c.159C>G
c.11767C>G (p.Leu3923Val)
c.11752C>G (p.Leu3918Val)
c.11749C>G (p.Leu3917Val)
c.376C>G
c.5136C>G
c.11734C>G (p.Leu3912Val)
c.11764C>G (p.Leu3922Val)
19g.38543424C>TCA507354769RYR1c.177C>T
c.159C>T
c.11767C>T (p.Leu3923=)
c.11752C>T (p.Leu3918=)
c.11749C>T (p.Leu3917=)
c.376C>T
c.5136C>T
c.11734C>T (p.Leu3912=)
c.11764C>T (p.Leu3922=)
 gnomAD v4
19g.38543425T>ACA405661415RYR1c.178T>A
c.160T>A
c.11768T>A (p.Leu3923Gln)
c.11753T>A (p.Leu3918Gln)
c.11750T>A (p.Leu3917Gln)
c.377T>A
c.5137T>A
c.11735T>A (p.Leu3912Gln)
c.11765T>A (p.Leu3922Gln)
19g.38543425T>CCA405661416RYR1c.178T>C
c.160T>C
c.11768T>C (p.Leu3923Pro)
c.11753T>C (p.Leu3918Pro)
c.11750T>C (p.Leu3917Pro)
c.377T>C
c.5137T>C
c.11735T>C (p.Leu3912Pro)
c.11765T>C (p.Leu3922Pro)
19g.38543425T>GCA405661418RYR1c.178T>G
c.160T>G
c.11768T>G (p.Leu3923Arg)
c.11753T>G (p.Leu3918Arg)
c.11750T>G (p.Leu3917Arg)
c.377T>G
c.5137T>G
c.11735T>G (p.Leu3912Arg)
c.11765T>G (p.Leu3922Arg)
19g.38543426G>ACA507354772RYR1c.179G>A
c.161G>A
c.11769G>A (p.Leu3923=)
c.11754G>A (p.Leu3918=)
c.11751G>A (p.Leu3917=)
c.378G>A
c.5138G>A
c.11736G>A (p.Leu3912=)
c.11766G>A (p.Leu3922=)
19g.38543426G>CCA507354774RYR1c.179G>C
c.161G>C
c.11769G>C (p.Leu3923=)
c.11754G>C (p.Leu3918=)
c.11751G>C (p.Leu3917=)
c.378G>C
c.5138G>C
c.11736G>C (p.Leu3912=)
c.11766G>C (p.Leu3922=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38543426G=CA2335074338RYR1c.179G=
c.161G=
c.11769G= (p.Leu3923=)
c.11754G= (p.Leu3918=)
c.11751G= (p.Leu3917=)
c.378G=
c.5138G=
c.11736G= (p.Leu3912=)
c.11766G= (p.Leu3922=)
19g.38543426G>TCA507354776RYR1c.179G>T
c.161G>T
c.11769G>T (p.Leu3923=)
c.11754G>T (p.Leu3918=)
c.11751G>T (p.Leu3917=)
c.378G>T
c.5138G>T
c.11736G>T (p.Leu3912=)
c.11766G>T (p.Leu3922=)
19g.38543427C>ACA507354779RYR1c.180C>A
c.162C>A
c.11770C>A (p.Arg3924=)
c.11755C>A (p.Arg3919=)
c.11752C>A (p.Arg3918=)
c.379C>A
c.5139C>A
c.11737C>A (p.Arg3913=)
c.11767C>A (p.Arg3923=)
19g.38543427C>GCA405661421RYR1c.180C>G
c.162C>G
c.11770C>G (p.Arg3924Gly)
c.11755C>G (p.Arg3919Gly)
c.11752C>G (p.Arg3918Gly)
c.379C>G
c.5139C>G
c.11737C>G (p.Arg3913Gly)
c.11767C>G (p.Arg3923Gly)
19g.38543427C>TCA405661432RYR1c.180C>T
c.162C>T
c.11770C>T (p.Arg3924Trp)
c.11755C>T (p.Arg3919Trp)
c.11752C>T (p.Arg3918Trp)
c.379C>T
c.5139C>T
c.11737C>T (p.Arg3913Trp)
c.11767C>T (p.Arg3923Trp)
 gnomAD v4
19g.38543428G>ACA057601RYR1c.181G>A
c.163G>A
c.11771G>A (p.Arg3924Gln)
c.11756G>A (p.Arg3919Gln)
c.11753G>A (p.Arg3918Gln)
c.380G>A
c.5140G>A
c.11738G>A (p.Arg3913Gln)
c.11768G>A (p.Arg3923Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38543428G>CCA405661436RYR1c.181G>C
c.163G>C
c.11771G>C (p.Arg3924Pro)
c.11756G>C (p.Arg3919Pro)
c.11753G>C (p.Arg3918Pro)
c.380G>C
c.5140G>C
c.11738G>C (p.Arg3913Pro)
c.11768G>C (p.Arg3923Pro)
19g.38543428G=CA2335074339RYR1c.181G=
c.163G=
c.11771G= (p.Arg3924=)
c.11756G= (p.Arg3919=)
c.11753G= (p.Arg3918=)
c.380G=
c.5140G=
c.11738G= (p.Arg3913=)
c.11768G= (p.Arg3923=)
19g.38543428G>TCA405661439RYR1c.181G>T
c.163G>T
c.11771G>T (p.Arg3924Leu)
c.11756G>T (p.Arg3919Leu)
c.11753G>T (p.Arg3918Leu)
c.380G>T
c.5140G>T
c.11738G>T (p.Arg3913Leu)
c.11768G>T (p.Arg3923Leu)
19g.38543429G>ACA507354781RYR1c.182G>A
c.164G>A
c.11772G>A (p.Arg3924=)
c.11757G>A (p.Arg3919=)
c.11754G>A (p.Arg3918=)
c.381G>A
c.5141G>A
c.11739G>A (p.Arg3913=)
c.11769G>A (p.Arg3923=)
19g.38543429G>CCA507354783RYR1c.182G>C
c.164G>C
c.11772G>C (p.Arg3924=)
c.11757G>C (p.Arg3919=)
c.11754G>C (p.Arg3918=)
c.381G>C
c.5141G>C
c.11739G>C (p.Arg3913=)
c.11769G>C (p.Arg3923=)
19g.38543429G>TCA507354782RYR1c.182G>T
c.164G>T
c.11772G>T (p.Arg3924=)
c.11757G>T (p.Arg3919=)
c.11754G>T (p.Arg3918=)
c.381G>T
c.5141G>T
c.11739G>T (p.Arg3913=)
c.11769G>T (p.Arg3923=)
19g.38543430C>ACA405661442RYR1c.183C>A
c.165C>A
c.11773C>A (p.Leu3925Met)
c.11758C>A (p.Leu3920Met)
c.11755C>A (p.Leu3919Met)
c.382C>A
c.5142C>A
c.11740C>A (p.Leu3914Met)
c.11770C>A (p.Leu3924Met)
19g.38543430C=CA2335074340RYR1c.183C=
c.165C=
c.11773C= (p.Leu3925=)
c.11758C= (p.Leu3920=)
c.11755C= (p.Leu3919=)
c.382C=
c.5142C=
c.11740C= (p.Leu3914=)
c.11770C= (p.Leu3924=)
19g.38543430C>GCA405661444RYR1c.183C>G
c.165C>G
c.11773C>G (p.Leu3925Val)
c.11758C>G (p.Leu3920Val)
c.11755C>G (p.Leu3919Val)
c.382C>G
c.5142C>G
c.11740C>G (p.Leu3914Val)
c.11770C>G (p.Leu3924Val)
19g.38543430C>TCA507354784RYR1c.183C>T
c.165C>T
c.11773C>T (p.Leu3925=)
c.11758C>T (p.Leu3920=)
c.11755C>T (p.Leu3919=)
c.382C>T
c.5142C>T
c.11740C>T (p.Leu3914=)
c.11770C>T (p.Leu3924=)
 dbSNP gnomAD v2 gnomAD v4
19g.38543431T>ACA405661445RYR1c.184T>A
c.166T>A
c.11774T>A (p.Leu3925Gln)
c.11759T>A (p.Leu3920Gln)
c.11756T>A (p.Leu3919Gln)
c.383T>A
c.5143T>A
c.11741T>A (p.Leu3914Gln)
c.11771T>A (p.Leu3924Gln)
19g.38543431T>CCA405661447RYR1c.184T>C
c.166T>C
c.11774T>C (p.Leu3925Pro)
c.11759T>C (p.Leu3920Pro)
c.11756T>C (p.Leu3919Pro)
c.383T>C
c.5143T>C
c.11741T>C (p.Leu3914Pro)
c.11771T>C (p.Leu3924Pro)
 gnomAD v4
19g.38543431T>GCA405661449RYR1c.184T>G
c.166T>G
c.11774T>G (p.Leu3925Arg)
c.11759T>G (p.Leu3920Arg)
c.11756T>G (p.Leu3919Arg)
c.383T>G
c.5143T>G
c.11741T>G (p.Leu3914Arg)
c.11771T>G (p.Leu3924Arg)
19g.38543432G>ACA507354787RYR1c.185G>A
c.167G>A
c.11775G>A (p.Leu3925=)
c.11760G>A (p.Leu3920=)
c.11757G>A (p.Leu3919=)
c.384G>A
c.5144G>A
c.11742G>A (p.Leu3914=)
c.11772G>A (p.Leu3924=)
 dbSNP gnomAD v2 gnomAD v4
19g.38543432G>CCA507354789RYR1c.185G>C
c.167G>C
c.11775G>C (p.Leu3925=)
c.11760G>C (p.Leu3920=)
c.11757G>C (p.Leu3919=)
c.384G>C
c.5144G>C
c.11742G>C (p.Leu3914=)
c.11772G>C (p.Leu3924=)
19g.38543432G=CA2335074341RYR1c.185G=
c.167G=
c.11775G= (p.Leu3925=)
c.11760G= (p.Leu3920=)
c.11757G= (p.Leu3919=)
c.384G=
c.5144G=
c.11742G= (p.Leu3914=)
c.11772G= (p.Leu3924=)
19g.38543432G>TCA507354791RYR1c.185G>T
c.167G>T
c.11775G>T (p.Leu3925=)
c.11760G>T (p.Leu3920=)
c.11757G>T (p.Leu3919=)
c.384G>T
c.5144G>T
c.11742G>T (p.Leu3914=)
c.11772G>T (p.Leu3924=)
19g.38543433C>ACA405661451RYR1c.186C>A
c.168C>A
c.11776C>A (p.Gln3926Lys)
c.11761C>A (p.Gln3921Lys)
c.11758C>A (p.Gln3920Lys)
c.385C>A
c.5145C>A
c.11743C>A (p.Gln3915Lys)
c.11773C>A (p.Gln3925Lys)
19g.38543433C>GCA405661453RYR1c.186C>G
c.168C>G
c.11776C>G (p.Gln3926Glu)
c.11761C>G (p.Gln3921Glu)
c.11758C>G (p.Gln3920Glu)
c.385C>G
c.5145C>G
c.11743C>G (p.Gln3915Glu)
c.11773C>G (p.Gln3925Glu)
19g.38543433C>TCA405661456RYR1c.186C>T
c.168C>T
c.11776C>T (p.Gln3926Ter)
c.11761C>T (p.Gln3921Ter)
c.11758C>T (p.Gln3920Ter)
c.385C>T
c.5145C>T
c.11743C>T (p.Gln3915Ter)
c.11773C>T (p.Gln3925Ter)
 ClinVar
19g.38543434A>CCA405661468RYR1c.187A>C
c.169A>C
c.11777A>C (p.Gln3926Pro)
c.11762A>C (p.Gln3921Pro)
c.11759A>C (p.Gln3920Pro)
c.386A>C
c.5146A>C
c.11744A>C (p.Gln3915Pro)
c.11774A>C (p.Gln3925Pro)
19g.38543434A>GCA405661465RYR1c.187A>G
c.169A>G
c.11777A>G (p.Gln3926Arg)
c.11762A>G (p.Gln3921Arg)
c.11759A>G (p.Gln3920Arg)
c.386A>G
c.5146A>G
c.11744A>G (p.Gln3915Arg)
c.11774A>G (p.Gln3925Arg)
19g.38543434A>TCA405661460RYR1c.187A>T
c.169A>T
c.11777A>T (p.Gln3926Leu)
c.11762A>T (p.Gln3921Leu)
c.11759A>T (p.Gln3920Leu)
c.386A>T
c.5146A>T
c.11744A>T (p.Gln3915Leu)
c.11774A>T (p.Gln3925Leu)

Number of alleles fetched