Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38580440G>ACA024187RYR1c.14582G>A (p.Arg4861His)
c.14567G>A (p.Arg4856His)
c.14564G>A (p.Arg4855His)
c.14549G>A (p.Arg4850His)
c.14579G>A (p.Arg4860His)
c.14495G>A (p.Arg4832His)
n.14582G>A (p.Arg4861His)
ClinVar dbSNP
19g.38580440G>CCA405687804RYR1c.14582G>C (p.Arg4861Pro)
c.14567G>C (p.Arg4856Pro)
c.14564G>C (p.Arg4855Pro)
c.14549G>C (p.Arg4850Pro)
c.14579G>C (p.Arg4860Pro)
c.14495G>C (p.Arg4832Pro)
n.14582G>C (p.Arg4861Pro)
19g.38580440G>TCA405687806RYR1c.14582G>T (p.Arg4861Leu)
c.14567G>T (p.Arg4856Leu)
c.14564G>T (p.Arg4855Leu)
c.14549G>T (p.Arg4850Leu)
c.14579G>T (p.Arg4860Leu)
c.14495G>T (p.Arg4832Leu)
n.14582G>T (p.Arg4861Leu)
19g.38580441C>ACA061401RYR1c.14583C>A (p.Arg4861=)
c.14568C>A (p.Arg4856=)
c.14565C>A (p.Arg4855=)
c.14550C>A (p.Arg4850=)
c.14580C>A (p.Arg4860=)
c.14496C>A (p.Arg4832=)
n.14583C>A (p.Arg4861=)
dbSNP ExAC gnomAD
19g.38580441C>GCA507356128RYR1c.14583C>G (p.Arg4861=)
c.14568C>G (p.Arg4856=)
c.14565C>G (p.Arg4855=)
c.14550C>G (p.Arg4850=)
c.14580C>G (p.Arg4860=)
c.14496C>G (p.Arg4832=)
n.14583C>G (p.Arg4861=)
19g.38580441C>TCA081262RYR1c.14583C>T (p.Arg4861=)
c.14568C>T (p.Arg4856=)
c.14565C>T (p.Arg4855=)
c.14550C>T (p.Arg4850=)
c.14580C>T (p.Arg4860=)
c.14496C>T (p.Arg4832=)
n.14583C>T (p.Arg4861=)
COSMIC
19g.38580442A>CCA405687811RYR1c.14584A>C (p.Lys4862Gln)
c.14569A>C (p.Lys4857Gln)
c.14566A>C (p.Lys4856Gln)
c.14551A>C (p.Lys4851Gln)
c.14581A>C (p.Lys4861Gln)
c.14497A>C (p.Lys4833Gln)
n.14584A>C (p.Lys4862Gln)
19g.38580442A>GCA405687812RYR1c.14584A>G (p.Lys4862Glu)
c.14569A>G (p.Lys4857Glu)
c.14566A>G (p.Lys4856Glu)
c.14551A>G (p.Lys4851Glu)
c.14581A>G (p.Lys4861Glu)
c.14497A>G (p.Lys4833Glu)
n.14584A>G (p.Lys4862Glu)
19g.38580442A>TCA405687815RYR1c.14584A>T (p.Lys4862Ter)
c.14569A>T (p.Lys4857Ter)
c.14566A>T (p.Lys4856Ter)
c.14551A>T (p.Lys4851Ter)
c.14581A>T (p.Lys4861Ter)
c.14497A>T (p.Lys4833Ter)
n.14584A>T (p.Lys4862Ter)
19g.38580443A>CCA405687817RYR1c.14585A>C (p.Lys4862Thr)
c.14570A>C (p.Lys4857Thr)
c.14567A>C (p.Lys4856Thr)
c.14552A>C (p.Lys4851Thr)
c.14582A>C (p.Lys4861Thr)
c.14498A>C (p.Lys4833Thr)
n.14585A>C (p.Lys4862Thr)
ClinVar
19g.38580443A>GCA405687818RYR1c.14585A>G (p.Lys4862Arg)
c.14570A>G (p.Lys4857Arg)
c.14567A>G (p.Lys4856Arg)
c.14552A>G (p.Lys4851Arg)
c.14582A>G (p.Lys4861Arg)
c.14498A>G (p.Lys4833Arg)
n.14585A>G (p.Lys4862Arg)
19g.38580443A>TCA405687819RYR1c.14585A>T (p.Lys4862Met)
c.14570A>T (p.Lys4857Met)
c.14567A>T (p.Lys4856Met)
c.14552A>T (p.Lys4851Met)
c.14582A>T (p.Lys4861Met)
c.14498A>T (p.Lys4833Met)
n.14585A>T (p.Lys4862Met)
19g.38580444G>ACA507356129RYR1c.14586G>A (p.Lys4862=)
c.14571G>A (p.Lys4857=)
c.14568G>A (p.Lys4856=)
c.14553G>A (p.Lys4851=)
c.14583G>A (p.Lys4861=)
c.14499G>A (p.Lys4833=)
n.14586G>A (p.Lys4862=)
19g.38580444G>CCA405687822RYR1c.14586G>C (p.Lys4862Asn)
c.14571G>C (p.Lys4857Asn)
c.14568G>C (p.Lys4856Asn)
c.14553G>C (p.Lys4851Asn)
c.14583G>C (p.Lys4861Asn)
c.14499G>C (p.Lys4833Asn)
n.14586G>C (p.Lys4862Asn)
19g.38580444G>TCA405687824RYR1c.14586G>T (p.Lys4862Asn)
c.14571G>T (p.Lys4857Asn)
c.14568G>T (p.Lys4856Asn)
c.14553G>T (p.Lys4851Asn)
c.14583G>T (p.Lys4861Asn)
c.14499G>T (p.Lys4833Asn)
n.14586G>T (p.Lys4862Asn)
19g.38580445T>ACA405687833RYR1c.14587T>A (p.Phe4863Ile)
c.14572T>A (p.Phe4858Ile)
c.14569T>A (p.Phe4857Ile)
c.14554T>A (p.Phe4852Ile)
c.14584T>A (p.Phe4862Ile)
c.14500T>A (p.Phe4834Ile)
n.14587T>A (p.Phe4863Ile)
19g.38580445T>CCA405687830RYR1c.14587T>C (p.Phe4863Leu)
c.14572T>C (p.Phe4858Leu)
c.14569T>C (p.Phe4857Leu)
c.14554T>C (p.Phe4852Leu)
c.14584T>C (p.Phe4862Leu)
c.14500T>C (p.Phe4834Leu)
n.14587T>C (p.Phe4863Leu)
19g.38580445T>GCA405687828RYR1c.14587T>G (p.Phe4863Val)
c.14572T>G (p.Phe4858Val)
c.14569T>G (p.Phe4857Val)
c.14554T>G (p.Phe4852Val)
c.14584T>G (p.Phe4862Val)
c.14500T>G (p.Phe4834Val)
n.14587T>G (p.Phe4863Val)
19g.38580445_38580465delCA024189RYR1c.14587_14607del (p.Phe4863_Asp4869del)
c.14572_14592del (p.Phe4858_Asp4864del)
c.14569_14589del (p.Phe4857_Asp4863del)
c.14554_14574del (p.Phe4852_Asp4858del)
c.14584_14604del (p.Phe4862_Asp4868del)
c.14500_14520del (p.Phe4834_Asp4840del)
n.14587_14607del (p.Phe4863_Asp4869del)
ClinVar dbSNP
19g.38580446T>ACA405687836RYR1c.14588T>A (p.Phe4863Tyr)
c.14573T>A (p.Phe4858Tyr)
c.14570T>A (p.Phe4857Tyr)
c.14555T>A (p.Phe4852Tyr)
c.14585T>A (p.Phe4862Tyr)
c.14501T>A (p.Phe4834Tyr)
n.14588T>A (p.Phe4863Tyr)
19g.38580446T>CCA405687837RYR1c.14588T>C (p.Phe4863Ser)
c.14573T>C (p.Phe4858Ser)
c.14570T>C (p.Phe4857Ser)
c.14555T>C (p.Phe4852Ser)
c.14585T>C (p.Phe4862Ser)
c.14501T>C (p.Phe4834Ser)
n.14588T>C (p.Phe4863Ser)
19g.38580446T>GCA405687839RYR1c.14588T>G (p.Phe4863Cys)
c.14573T>G (p.Phe4858Cys)
c.14570T>G (p.Phe4857Cys)
c.14555T>G (p.Phe4852Cys)
c.14585T>G (p.Phe4862Cys)
c.14501T>G (p.Phe4834Cys)
n.14588T>G (p.Phe4863Cys)
19g.38580446_38580463delCA024191RYR1c.14588_14605del (p.Phe4863_Asp4869delinsTyr)
c.14573_14590del (p.Phe4858_Asp4864delinsTyr)
c.14570_14587del (p.Phe4857_Asp4863delinsTyr)
c.14555_14572del (p.Phe4852_Asp4858delinsTyr)
c.14585_14602del (p.Phe4862_Asp4868delinsTyr)
c.14501_14518del (p.Phe4834_Asp4840delinsTyr)
n.14588_14605del (p.Phe4863_Asp4869delinsTyr)
ClinVar dbSNP
19g.38580447C>ACA405687844RYR1c.14589C>A (p.Phe4863Leu)
c.14574C>A (p.Phe4858Leu)
c.14571C>A (p.Phe4857Leu)
c.14556C>A (p.Phe4852Leu)
c.14586C>A (p.Phe4862Leu)
c.14502C>A (p.Phe4834Leu)
n.14589C>A (p.Phe4863Leu)
19g.38580447C>GCA405687845RYR1c.14589C>G (p.Phe4863Leu)
c.14574C>G (p.Phe4858Leu)
c.14571C>G (p.Phe4857Leu)
c.14556C>G (p.Phe4852Leu)
c.14586C>G (p.Phe4862Leu)
c.14502C>G (p.Phe4834Leu)
n.14589C>G (p.Phe4863Leu)
19g.38580447C>TCA024194RYR1c.14589C>T (p.Phe4863=)
c.14574C>T (p.Phe4858=)
c.14571C>T (p.Phe4857=)
c.14556C>T (p.Phe4852=)
c.14586C>T (p.Phe4862=)
c.14502C>T (p.Phe4834=)
n.14589C>T (p.Phe4863=)
ClinVar dbSNP ExAC gnomAD
19g.38580448T>ACA405687848RYR1c.14590T>A (p.Tyr4864Asn)
c.14575T>A (p.Tyr4859Asn)
c.14572T>A (p.Tyr4858Asn)
c.14557T>A (p.Tyr4853Asn)
c.14587T>A (p.Tyr4863Asn)
c.14503T>A (p.Tyr4835Asn)
n.14590T>A (p.Tyr4864Asn)
19g.38580448T>CCA405687849RYR1c.14590T>C (p.Tyr4864His)
c.14575T>C (p.Tyr4859His)
c.14572T>C (p.Tyr4858His)
c.14557T>C (p.Tyr4853His)
c.14587T>C (p.Tyr4863His)
c.14503T>C (p.Tyr4835His)
n.14590T>C (p.Tyr4864His)
19g.38580448T>GCA405687851RYR1c.14590T>G (p.Tyr4864Asp)
c.14575T>G (p.Tyr4859Asp)
c.14572T>G (p.Tyr4858Asp)
c.14557T>G (p.Tyr4853Asp)
c.14587T>G (p.Tyr4863Asp)
c.14503T>G (p.Tyr4835Asp)
n.14590T>G (p.Tyr4864Asp)
19g.38580449A>CCA405687854RYR1c.14591A>C (p.Tyr4864Ser)
c.14576A>C (p.Tyr4859Ser)
c.14573A>C (p.Tyr4858Ser)
c.14558A>C (p.Tyr4853Ser)
c.14588A>C (p.Tyr4863Ser)
c.14504A>C (p.Tyr4835Ser)
n.14591A>C (p.Tyr4864Ser)
19g.38580449A>GCA024196RYR1c.14591A>G (p.Tyr4864Cys)
c.14576A>G (p.Tyr4859Cys)
c.14573A>G (p.Tyr4858Cys)
c.14558A>G (p.Tyr4853Cys)
c.14588A>G (p.Tyr4863Cys)
c.14504A>G (p.Tyr4835Cys)
n.14591A>G (p.Tyr4864Cys)
ClinVar dbSNP
19g.38580449A>TCA405687856RYR1c.14591A>T (p.Tyr4864Phe)
c.14576A>T (p.Tyr4859Phe)
c.14573A>T (p.Tyr4858Phe)
c.14558A>T (p.Tyr4853Phe)
c.14588A>T (p.Tyr4863Phe)
c.14504A>T (p.Tyr4835Phe)
n.14591A>T (p.Tyr4864Phe)
19g.38580450C>ACA405687858RYR1c.14592C>A (p.Tyr4864Ter)
c.14577C>A (p.Tyr4859Ter)
c.14574C>A (p.Tyr4858Ter)
c.14559C>A (p.Tyr4853Ter)
c.14589C>A (p.Tyr4863Ter)
c.14505C>A (p.Tyr4835Ter)
n.14592C>A (p.Tyr4864Ter)
19g.38580450C>GCA405687859RYR1c.14592C>G (p.Tyr4864Ter)
c.14577C>G (p.Tyr4859Ter)
c.14574C>G (p.Tyr4858Ter)
c.14559C>G (p.Tyr4853Ter)
c.14589C>G (p.Tyr4863Ter)
c.14505C>G (p.Tyr4835Ter)
n.14592C>G (p.Tyr4864Ter)
19g.38580450C>TCA061408RYR1c.14592C>T (p.Tyr4864=)
c.14577C>T (p.Tyr4859=)
c.14574C>T (p.Tyr4858=)
c.14559C>T (p.Tyr4853=)
c.14589C>T (p.Tyr4863=)
c.14505C>T (p.Tyr4835=)
n.14592C>T (p.Tyr4864=)
dbSNP ExAC gnomAD
19g.38580451A>CCA405687862RYR1c.14593A>C (p.Asn4865His)
c.14578A>C (p.Asn4860His)
c.14575A>C (p.Asn4859His)
c.14560A>C (p.Asn4854His)
c.14590A>C (p.Asn4864His)
c.14506A>C (p.Asn4836His)
n.14593A>C (p.Asn4865His)
19g.38580451A>GCA061412RYR1c.14593A>G (p.Asn4865Asp)
c.14578A>G (p.Asn4860Asp)
c.14575A>G (p.Asn4859Asp)
c.14560A>G (p.Asn4854Asp)
c.14590A>G (p.Asn4864Asp)
c.14506A>G (p.Asn4836Asp)
n.14593A>G (p.Asn4865Asp)
dbSNP ExAC gnomAD
19g.38580451A>TCA405687865RYR1c.14593A>T (p.Asn4865Tyr)
c.14578A>T (p.Asn4860Tyr)
c.14575A>T (p.Asn4859Tyr)
c.14560A>T (p.Asn4854Tyr)
c.14590A>T (p.Asn4864Tyr)
c.14506A>T (p.Asn4836Tyr)
n.14593A>T (p.Asn4865Tyr)
19g.38580452A>CCA405687868RYR1c.14594A>C (p.Asn4865Thr)
c.14579A>C (p.Asn4860Thr)
c.14576A>C (p.Asn4859Thr)
c.14561A>C (p.Asn4854Thr)
c.14591A>C (p.Asn4864Thr)
c.14507A>C (p.Asn4836Thr)
n.14594A>C (p.Asn4865Thr)
19g.38580452A>GCA405687870RYR1c.14594A>G (p.Asn4865Ser)
c.14579A>G (p.Asn4860Ser)
c.14576A>G (p.Asn4859Ser)
c.14561A>G (p.Asn4854Ser)
c.14591A>G (p.Asn4864Ser)
c.14507A>G (p.Asn4836Ser)
n.14594A>G (p.Asn4865Ser)
19g.38580452A>TCA405687872RYR1c.14594A>T (p.Asn4865Ile)
c.14579A>T (p.Asn4860Ile)
c.14576A>T (p.Asn4859Ile)
c.14561A>T (p.Asn4854Ile)
c.14591A>T (p.Asn4864Ile)
c.14507A>T (p.Asn4836Ile)
n.14594A>T (p.Asn4865Ile)
19g.38580453C>ACA405687874RYR1c.14595C>A (p.Asn4865Lys)
c.14580C>A (p.Asn4860Lys)
c.14577C>A (p.Asn4859Lys)
c.14562C>A (p.Asn4854Lys)
c.14592C>A (p.Asn4864Lys)
c.14508C>A (p.Asn4836Lys)
n.14595C>A (p.Asn4865Lys)
19g.38580453C>GCA405687875RYR1c.14595C>G (p.Asn4865Lys)
c.14580C>G (p.Asn4860Lys)
c.14577C>G (p.Asn4859Lys)
c.14562C>G (p.Asn4854Lys)
c.14592C>G (p.Asn4864Lys)
c.14508C>G (p.Asn4836Lys)
n.14595C>G (p.Asn4865Lys)
19g.38580453C>TCA081264RYR1c.14595C>T (p.Asn4865=)
c.14580C>T (p.Asn4860=)
c.14577C>T (p.Asn4859=)
c.14562C>T (p.Asn4854=)
c.14592C>T (p.Asn4864=)
c.14508C>T (p.Asn4836=)
n.14595C>T (p.Asn4865=)
gnomAD
19g.38580454A>CCA405687876RYR1c.14596A>C (p.Lys4866Gln)
c.14581A>C (p.Lys4861Gln)
c.14578A>C (p.Lys4860Gln)
c.14563A>C (p.Lys4855Gln)
c.14593A>C (p.Lys4865Gln)
c.14509A>C (p.Lys4837Gln)
n.14596A>C (p.Lys4866Gln)
19g.38580454A>GCA081265RYR1c.14596A>G (p.Lys4866Glu)
c.14581A>G (p.Lys4861Glu)
c.14578A>G (p.Lys4860Glu)
c.14563A>G (p.Lys4855Glu)
c.14593A>G (p.Lys4865Glu)
c.14509A>G (p.Lys4837Glu)
n.14596A>G (p.Lys4866Glu)
19g.38580454A>TCA405687877RYR1c.14596A>T (p.Lys4866Ter)
c.14581A>T (p.Lys4861Ter)
c.14578A>T (p.Lys4860Ter)
c.14563A>T (p.Lys4855Ter)
c.14593A>T (p.Lys4865Ter)
c.14509A>T (p.Lys4837Ter)
n.14596A>T (p.Lys4866Ter)
19g.38580455A>CCA405687880RYR1c.14597A>C (p.Lys4866Thr)
c.14582A>C (p.Lys4861Thr)
c.14579A>C (p.Lys4860Thr)
c.14564A>C (p.Lys4855Thr)
c.14594A>C (p.Lys4865Thr)
c.14510A>C (p.Lys4837Thr)
n.14597A>C (p.Lys4866Thr)
19g.38580455A>GCA405687879RYR1c.14597A>G (p.Lys4866Arg)
c.14582A>G (p.Lys4861Arg)
c.14579A>G (p.Lys4860Arg)
c.14564A>G (p.Lys4855Arg)
c.14594A>G (p.Lys4865Arg)
c.14510A>G (p.Lys4837Arg)
n.14597A>G (p.Lys4866Arg)
19g.38580455A>TCA405687878RYR1c.14597A>T (p.Lys4866Met)
c.14582A>T (p.Lys4861Met)
c.14579A>T (p.Lys4860Met)
c.14564A>T (p.Lys4855Met)
c.14594A>T (p.Lys4865Met)
c.14510A>T (p.Lys4837Met)
n.14597A>T (p.Lys4866Met)

Number of alleles fetched