Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38572128_38572130delCA2584910038RYR1c.792_794del
c.2189_2191del
c.2161_2163del
c.13856_13858del (p.Glu4619del)
c.13841_13843del (p.Glu4614del)
c.13838_13840del (p.Glu4613del)
c.316_318del
c.13823_13825del (p.Glu4608del)
c.13853_13855del (p.Glu4618del)
c.13769_13771del (p.Glu4590del)
gnomAD v4
19g.38572127G>ACA405680617RYR1c.791G>A
c.2188G>A
c.2160G>A
c.13855G>A (p.Glu4619Lys)
c.13840G>A (p.Glu4614Lys)
c.13837G>A (p.Glu4613Lys)
c.315G>A
c.13822G>A (p.Glu4608Lys)
c.13852G>A (p.Glu4618Lys)
c.13768G>A (p.Glu4590Lys)
19g.38572127G>CCA405680609RYR1c.791G>C
c.2188G>C
c.2160G>C
c.13855G>C (p.Glu4619Gln)
c.13840G>C (p.Glu4614Gln)
c.13837G>C (p.Glu4613Gln)
c.315G>C
c.13822G>C (p.Glu4608Gln)
c.13852G>C (p.Glu4618Gln)
c.13768G>C (p.Glu4590Gln)
19g.38572127G>TCA405680606RYR1c.791G>T
c.2188G>T
c.2160G>T
c.13855G>T (p.Glu4619Ter)
c.13840G>T (p.Glu4614Ter)
c.13837G>T (p.Glu4613Ter)
c.315G>T
c.13822G>T (p.Glu4608Ter)
c.13852G>T (p.Glu4618Ter)
c.13768G>T (p.Glu4590Ter)
19g.38572128A>CCA405680626RYR1c.792A>C
c.2189A>C
c.2161A>C
c.13856A>C (p.Glu4619Ala)
c.13841A>C (p.Glu4614Ala)
c.13838A>C (p.Glu4613Ala)
c.316A>C
c.13823A>C (p.Glu4608Ala)
c.13853A>C (p.Glu4618Ala)
c.13769A>C (p.Glu4590Ala)
19g.38572128A>GCA405680627RYR1c.792A>G
c.2189A>G
c.2161A>G
c.13856A>G (p.Glu4619Gly)
c.13841A>G (p.Glu4614Gly)
c.13838A>G (p.Glu4613Gly)
c.316A>G
c.13823A>G (p.Glu4608Gly)
c.13853A>G (p.Glu4618Gly)
c.13769A>G (p.Glu4590Gly)
19g.38572128A>TCA405680628RYR1c.792A>T
c.2189A>T
c.2161A>T
c.13856A>T (p.Glu4619Val)
c.13841A>T (p.Glu4614Val)
c.13838A>T (p.Glu4613Val)
c.316A>T
c.13823A>T (p.Glu4608Val)
c.13853A>T (p.Glu4618Val)
c.13769A>T (p.Glu4590Val)
19g.38572129G>ACA507356053RYR1c.793G>A
c.2190G>A
c.2162G>A
c.13857G>A (p.Glu4619=)
c.13842G>A (p.Glu4614=)
c.13839G>A (p.Glu4613=)
c.317G>A
c.13824G>A (p.Glu4608=)
c.13854G>A (p.Glu4618=)
c.13770G>A (p.Glu4590=)
dbSNP
19g.38572129G>CCA405680629RYR1c.793G>C
c.2190G>C
c.2162G>C
c.13857G>C (p.Glu4619Asp)
c.13842G>C (p.Glu4614Asp)
c.13839G>C (p.Glu4613Asp)
c.317G>C
c.13824G>C (p.Glu4608Asp)
c.13854G>C (p.Glu4618Asp)
c.13770G>C (p.Glu4590Asp)
19g.38572129G=CA2335088402RYR1c.793G=
c.2190G=
c.2162G=
c.13857G= (p.Glu4619=)
c.13842G= (p.Glu4614=)
c.13839G= (p.Glu4613=)
c.317G=
c.13824G= (p.Glu4608=)
c.13854G= (p.Glu4618=)
c.13770G= (p.Glu4590=)
19g.38572129G>TCA405680631RYR1c.793G>T
c.2190G>T
c.2162G>T
c.13857G>T (p.Glu4619Asp)
c.13842G>T (p.Glu4614Asp)
c.13839G>T (p.Glu4613Asp)
c.317G>T
c.13824G>T (p.Glu4608Asp)
c.13854G>T (p.Glu4618Asp)
c.13770G>T (p.Glu4590Asp)
19g.38572130G>ACA405680657RYR1c.794G>A
c.2191G>A
c.2163G>A
c.13858G>A (p.Ala4620Thr)
c.13843G>A (p.Ala4615Thr)
c.13840G>A (p.Ala4614Thr)
c.318G>A
c.13825G>A (p.Ala4609Thr)
c.13855G>A (p.Ala4619Thr)
c.13771G>A (p.Ala4591Thr)
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38572130G>CCA405680635RYR1c.794G>C
c.2191G>C
c.2163G>C
c.13858G>C (p.Ala4620Pro)
c.13843G>C (p.Ala4615Pro)
c.13840G>C (p.Ala4614Pro)
c.318G>C
c.13825G>C (p.Ala4609Pro)
c.13855G>C (p.Ala4619Pro)
c.13771G>C (p.Ala4591Pro)
19g.38572130G=CA2335088403RYR1c.794G=
c.2191G=
c.2163G=
c.13858G= (p.Ala4620=)
c.13843G= (p.Ala4615=)
c.13840G= (p.Ala4614=)
c.318G=
c.13825G= (p.Ala4609=)
c.13855G= (p.Ala4619=)
c.13771G= (p.Ala4591=)
19g.38572130G>TCA405680634RYR1c.794G>T
c.2191G>T
c.2163G>T
c.13858G>T (p.Ala4620Ser)
c.13843G>T (p.Ala4615Ser)
c.13840G>T (p.Ala4614Ser)
c.318G>T
c.13825G>T (p.Ala4609Ser)
c.13855G>T (p.Ala4619Ser)
c.13771G>T (p.Ala4591Ser)
dbSNP gnomAD v2 gnomAD v4
19g.38572131C>ACA405680664RYR1c.795C>A
c.2192C>A
c.2164C>A
c.13859C>A (p.Ala4620Glu)
c.13844C>A (p.Ala4615Glu)
c.13841C>A (p.Ala4614Glu)
c.319C>A
c.13826C>A (p.Ala4609Glu)
c.13856C>A (p.Ala4619Glu)
c.13772C>A (p.Ala4591Glu)
19g.38572131C=CA2335088404RYR1c.795C=
c.2192C=
c.2164C=
c.13859C= (p.Ala4620=)
c.13844C= (p.Ala4615=)
c.13841C= (p.Ala4614=)
c.319C=
c.13826C= (p.Ala4609=)
c.13856C= (p.Ala4619=)
c.13772C= (p.Ala4591=)
19g.38572131C>GCA405680665RYR1c.795C>G
c.2192C>G
c.2164C>G
c.13859C>G (p.Ala4620Gly)
c.13844C>G (p.Ala4615Gly)
c.13841C>G (p.Ala4614Gly)
c.319C>G
c.13826C>G (p.Ala4609Gly)
c.13856C>G (p.Ala4619Gly)
c.13772C>G (p.Ala4591Gly)
dbSNP gnomAD v3 gnomAD v4
19g.38572131C>TCA405680666RYR1c.795C>T
c.2192C>T
c.2164C>T
c.13859C>T (p.Ala4620Val)
c.13844C>T (p.Ala4615Val)
c.13841C>T (p.Ala4614Val)
c.319C>T
c.13826C>T (p.Ala4609Val)
c.13856C>T (p.Ala4619Val)
c.13772C>T (p.Ala4591Val)
dbSNP
19g.38572131_38572134dupCA2584910039RYR1c.795_798dup
c.2192_2195dup
c.2164_2167dup
c.13859_13862dup (p.Glu4621AspfsTer5)
c.13844_13847dup (p.Glu4616AspfsTer5)
c.13841_13844dup (p.Glu4615AspfsTer5)
c.319_322dup
c.13826_13829dup (p.Glu4610AspfsTer5)
c.13856_13859dup (p.Glu4620AspfsTer5)
c.13772_13775dup (p.Glu4592AspfsTer5)
gnomAD v4
19g.38572132A>CCA507356057RYR1c.796A>C
c.2193A>C
c.2165A>C
c.13860A>C (p.Ala4620=)
c.13845A>C (p.Ala4615=)
c.13842A>C (p.Ala4614=)
c.320A>C
c.13827A>C (p.Ala4609=)
c.13857A>C (p.Ala4619=)
c.13773A>C (p.Ala4591=)
19g.38572132A>GCA507356059RYR1c.796A>G
c.2193A>G
c.2165A>G
c.13860A>G (p.Ala4620=)
c.13845A>G (p.Ala4615=)
c.13842A>G (p.Ala4614=)
c.320A>G
c.13827A>G (p.Ala4609=)
c.13857A>G (p.Ala4619=)
c.13773A>G (p.Ala4591=)
19g.38572132A>TCA507356060RYR1c.796A>T
c.2193A>T
c.2165A>T
c.13860A>T (p.Ala4620=)
c.13845A>T (p.Ala4615=)
c.13842A>T (p.Ala4614=)
c.320A>T
c.13827A>T (p.Ala4609=)
c.13857A>T (p.Ala4619=)
c.13773A>T (p.Ala4591=)
COSMIC
19g.38572133G>ACA405680675RYR1c.797G>A
c.2194G>A
c.2166G>A
c.13861G>A (p.Glu4621Lys)
c.13846G>A (p.Glu4616Lys)
c.13843G>A (p.Glu4615Lys)
c.321G>A
c.13828G>A (p.Glu4610Lys)
c.13858G>A (p.Glu4620Lys)
c.13774G>A (p.Glu4592Lys)
gnomAD v4
19g.38572133G>CCA405680677RYR1c.797G>C
c.2194G>C
c.2166G>C
c.13861G>C (p.Glu4621Gln)
c.13846G>C (p.Glu4616Gln)
c.13843G>C (p.Glu4615Gln)
c.321G>C
c.13828G>C (p.Glu4610Gln)
c.13858G>C (p.Glu4620Gln)
c.13774G>C (p.Glu4592Gln)
19g.38572133G>TCA405680688RYR1c.797G>T
c.2194G>T
c.2166G>T
c.13861G>T (p.Glu4621Ter)
c.13846G>T (p.Glu4616Ter)
c.13843G>T (p.Glu4615Ter)
c.321G>T
c.13828G>T (p.Glu4610Ter)
c.13858G>T (p.Glu4620Ter)
c.13774G>T (p.Glu4592Ter)
19g.38572134A>CCA405680696RYR1c.798A>C
c.2195A>C
c.2167A>C
c.13862A>C (p.Glu4621Ala)
c.13847A>C (p.Glu4616Ala)
c.13844A>C (p.Glu4615Ala)
c.322A>C
c.13829A>C (p.Glu4610Ala)
c.13859A>C (p.Glu4620Ala)
c.13775A>C (p.Glu4592Ala)
19g.38572134A>GCA405680691RYR1c.798A>G
c.2195A>G
c.2167A>G
c.13862A>G (p.Glu4621Gly)
c.13847A>G (p.Glu4616Gly)
c.13844A>G (p.Glu4615Gly)
c.322A>G
c.13829A>G (p.Glu4610Gly)
c.13859A>G (p.Glu4620Gly)
c.13775A>G (p.Glu4592Gly)
19g.38572134A>TCA405680694RYR1c.798A>T
c.2195A>T
c.2167A>T
c.13862A>T (p.Glu4621Val)
c.13847A>T (p.Glu4616Val)
c.13844A>T (p.Glu4615Val)
c.322A>T
c.13829A>T (p.Glu4610Val)
c.13859A>T (p.Glu4620Val)
c.13775A>T (p.Glu4592Val)
19g.38572135G>ACA060605RYR1c.799G>A
c.2196G>A
c.2168G>A
c.13863G>A (p.Glu4621=)
c.13848G>A (p.Glu4616=)
c.13845G>A (p.Glu4615=)
c.323G>A
c.13830G>A (p.Glu4610=)
c.13860G>A (p.Glu4620=)
c.13776G>A (p.Glu4592=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38572135G>CCA405680706RYR1c.799G>C
c.2196G>C
c.2168G>C
c.13863G>C (p.Glu4621Asp)
c.13848G>C (p.Glu4616Asp)
c.13845G>C (p.Glu4615Asp)
c.323G>C
c.13830G>C (p.Glu4610Asp)
c.13860G>C (p.Glu4620Asp)
c.13776G>C (p.Glu4592Asp)
19g.38572135G=CA2335088405RYR1c.799G=
c.2196G=
c.2168G=
c.13863G= (p.Glu4621=)
c.13848G= (p.Glu4616=)
c.13845G= (p.Glu4615=)
c.323G=
c.13830G= (p.Glu4610=)
c.13860G= (p.Glu4620=)
c.13776G= (p.Glu4592=)
19g.38572135G>TCA405680707RYR1c.799G>T
c.2196G>T
c.2168G>T
c.13863G>T (p.Glu4621Asp)
c.13848G>T (p.Glu4616Asp)
c.13845G>T (p.Glu4615Asp)
c.323G>T
c.13830G>T (p.Glu4610Asp)
c.13860G>T (p.Glu4620Asp)
c.13776G>T (p.Glu4592Asp)
19g.38572136G>ACA405680712RYR1c.800G>A
c.2197G>A
c.2169G>A
c.13864G>A (p.Gly4622Ser)
c.13849G>A (p.Gly4617Ser)
c.13846G>A (p.Gly4616Ser)
c.324G>A
c.13831G>A (p.Gly4611Ser)
c.13861G>A (p.Gly4621Ser)
c.13777G>A (p.Gly4593Ser)
ClinVar gnomAD v4
19g.38572136G>CCA405680721RYR1c.800G>C
c.2197G>C
c.2169G>C
c.13864G>C (p.Gly4622Arg)
c.13849G>C (p.Gly4617Arg)
c.13846G>C (p.Gly4616Arg)
c.324G>C
c.13831G>C (p.Gly4611Arg)
c.13861G>C (p.Gly4621Arg)
c.13777G>C (p.Gly4593Arg)
19g.38572136G>TCA405680724RYR1c.800G>T
c.2197G>T
c.2169G>T
c.13864G>T (p.Gly4622Cys)
c.13849G>T (p.Gly4617Cys)
c.13846G>T (p.Gly4616Cys)
c.324G>T
c.13831G>T (p.Gly4611Cys)
c.13861G>T (p.Gly4621Cys)
c.13777G>T (p.Gly4593Cys)
19g.38572137G>ACA405680725RYR1c.801G>A
c.2198G>A
c.2170G>A
c.13865G>A (p.Gly4622Asp)
c.13850G>A (p.Gly4617Asp)
c.13847G>A (p.Gly4616Asp)
c.325G>A
c.13832G>A (p.Gly4611Asp)
c.13862G>A (p.Gly4621Asp)
c.13778G>A (p.Gly4593Asp)
dbSNP gnomAD v3 gnomAD v4
19g.38572137G>CCA060615RYR1c.801G>C
c.2198G>C
c.2170G>C
c.13865G>C (p.Gly4622Ala)
c.13850G>C (p.Gly4617Ala)
c.13847G>C (p.Gly4616Ala)
c.325G>C
c.13832G>C (p.Gly4611Ala)
c.13862G>C (p.Gly4621Ala)
c.13778G>C (p.Gly4593Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38572137G=CA2335088406RYR1c.801G=
c.2198G=
c.2170G=
c.13865G= (p.Gly4622=)
c.13850G= (p.Gly4617=)
c.13847G= (p.Gly4616=)
c.325G=
c.13832G= (p.Gly4611=)
c.13862G= (p.Gly4621=)
c.13778G= (p.Gly4593=)
19g.38572137G>TCA405680726RYR1c.801G>T
c.2198G>T
c.2170G>T
c.13865G>T (p.Gly4622Val)
c.13850G>T (p.Gly4617Val)
c.13847G>T (p.Gly4616Val)
c.325G>T
c.13832G>T (p.Gly4611Val)
c.13862G>T (p.Gly4621Val)
c.13778G>T (p.Gly4593Val)
19g.38572138C>ACA507356072RYR1c.802C>A
c.2199C>A
c.2171C>A
c.13866C>A (p.Gly4622=)
c.13851C>A (p.Gly4617=)
c.13848C>A (p.Gly4616=)
c.326C>A
c.13833C>A (p.Gly4611=)
c.13863C>A (p.Gly4621=)
c.13779C>A (p.Gly4593=)
19g.38572138C=CA2335088407RYR1c.802C=
c.2199C=
c.2171C=
c.13866C= (p.Gly4622=)
c.13851C= (p.Gly4617=)
c.13848C= (p.Gly4616=)
c.326C=
c.13833C= (p.Gly4611=)
c.13863C= (p.Gly4621=)
c.13779C= (p.Gly4593=)
19g.38572138C>GCA507356073RYR1c.802C>G
c.2199C>G
c.2171C>G
c.13866C>G (p.Gly4622=)
c.13851C>G (p.Gly4617=)
c.13848C>G (p.Gly4616=)
c.326C>G
c.13833C>G (p.Gly4611=)
c.13863C>G (p.Gly4621=)
c.13779C>G (p.Gly4593=)
19g.38572138C>TCA060620RYR1c.802C>T
c.2199C>T
c.2171C>T
c.13866C>T (p.Gly4622=)
c.13851C>T (p.Gly4617=)
c.13848C>T (p.Gly4616=)
c.326C>T
c.13833C>T (p.Gly4611=)
c.13863C>T (p.Gly4621=)
c.13779C>T (p.Gly4593=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38572139G>ACA060622RYR1c.803G>A
c.2200G>A
c.2172G>A
c.13867G>A (p.Asp4623Asn)
c.13852G>A (p.Asp4618Asn)
c.13849G>A (p.Asp4617Asn)
c.327G>A
c.13834G>A (p.Asp4612Asn)
c.13864G>A (p.Asp4622Asn)
c.13780G>A (p.Asp4594Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38572139G>CCA405680727RYR1c.803G>C
c.2200G>C
c.2172G>C
c.13867G>C (p.Asp4623His)
c.13852G>C (p.Asp4618His)
c.13849G>C (p.Asp4617His)
c.327G>C
c.13834G>C (p.Asp4612His)
c.13864G>C (p.Asp4622His)
c.13780G>C (p.Asp4594His)
19g.38572139G=CA2335088408RYR1c.803G=
c.2200G=
c.2172G=
c.13867G= (p.Asp4623=)
c.13852G= (p.Asp4618=)
c.13849G= (p.Asp4617=)
c.327G=
c.13834G= (p.Asp4612=)
c.13864G= (p.Asp4622=)
c.13780G= (p.Asp4594=)
19g.38572139G>TCA405680728RYR1c.803G>T
c.2200G>T
c.2172G>T
c.13867G>T (p.Asp4623Tyr)
c.13852G>T (p.Asp4618Tyr)
c.13849G>T (p.Asp4617Tyr)
c.327G>T
c.13834G>T (p.Asp4612Tyr)
c.13864G>T (p.Asp4622Tyr)
c.13780G>T (p.Asp4594Tyr)
19g.38572140A>CCA405680737RYR1c.804A>C
c.2201A>C
c.2173A>C
c.13868A>C (p.Asp4623Ala)
c.13853A>C (p.Asp4618Ala)
c.13850A>C (p.Asp4617Ala)
c.328A>C
c.13835A>C (p.Asp4612Ala)
c.13865A>C (p.Asp4622Ala)
c.13781A>C (p.Asp4594Ala)
19g.38572140A>GCA405680731RYR1c.804A>G
c.2201A>G
c.2173A>G
c.13868A>G (p.Asp4623Gly)
c.13853A>G (p.Asp4618Gly)
c.13850A>G (p.Asp4617Gly)
c.328A>G
c.13835A>G (p.Asp4612Gly)
c.13865A>G (p.Asp4622Gly)
c.13781A>G (p.Asp4594Gly)
19g.38572140A>TCA405680734RYR1c.804A>T
c.2201A>T
c.2173A>T
c.13868A>T (p.Asp4623Val)
c.13853A>T (p.Asp4618Val)
c.13850A>T (p.Asp4617Val)
c.328A>T
c.13835A>T (p.Asp4612Val)
c.13865A>T (p.Asp4622Val)
c.13781A>T (p.Asp4594Val)
19g.38572141T>ACA405680738RYR1c.805T>A
c.2202T>A
c.2174T>A
c.13869T>A (p.Asp4623Glu)
c.13854T>A (p.Asp4618Glu)
c.13851T>A (p.Asp4617Glu)
c.329T>A
c.13836T>A (p.Asp4612Glu)
c.13866T>A (p.Asp4622Glu)
c.13782T>A (p.Asp4594Glu)
19g.38572141T>CCA507356083RYR1c.805T>C
c.2202T>C
c.2174T>C
c.13869T>C (p.Asp4623=)
c.13854T>C (p.Asp4618=)
c.13851T>C (p.Asp4617=)
c.329T>C
c.13836T>C (p.Asp4612=)
c.13866T>C (p.Asp4622=)
c.13782T>C (p.Asp4594=)
19g.38572141T>GCA405680739RYR1c.805T>G
c.2202T>G
c.2174T>G
c.13869T>G (p.Asp4623Glu)
c.13854T>G (p.Asp4618Glu)
c.13851T>G (p.Asp4617Glu)
c.329T>G
c.13836T>G (p.Asp4612Glu)
c.13866T>G (p.Asp4622Glu)
c.13782T>G (p.Asp4594Glu)
19g.38572142G>ACA081026RYR1c.806G>A
c.2203G>A
c.2175G>A
c.13870G>A (p.Glu4624Lys)
c.13855G>A (p.Glu4619Lys)
c.13852G>A (p.Glu4618Lys)
c.330G>A
c.13837G>A (p.Glu4613Lys)
c.13867G>A (p.Glu4623Lys)
c.13783G>A (p.Glu4595Lys)
19g.38572142G>CCA405680740RYR1c.806G>C
c.2203G>C
c.2175G>C
c.13870G>C (p.Glu4624Gln)
c.13855G>C (p.Glu4619Gln)
c.13852G>C (p.Glu4618Gln)
c.330G>C
c.13837G>C (p.Glu4613Gln)
c.13867G>C (p.Glu4623Gln)
c.13783G>C (p.Glu4595Gln)
19g.38572142G>TCA405680742RYR1c.806G>T
c.2203G>T
c.2175G>T
c.13870G>T (p.Glu4624Ter)
c.13855G>T (p.Glu4619Ter)
c.13852G>T (p.Glu4618Ter)
c.330G>T
c.13837G>T (p.Glu4613Ter)
c.13867G>T (p.Glu4623Ter)
c.13783G>T (p.Glu4595Ter)
19g.38572143A>CCA405680743RYR1c.807A>C
c.2204A>C
c.2176A>C
c.13871A>C (p.Glu4624Ala)
c.13856A>C (p.Glu4619Ala)
c.13853A>C (p.Glu4618Ala)
c.331A>C
c.13838A>C (p.Glu4613Ala)
c.13868A>C (p.Glu4623Ala)
c.13784A>C (p.Glu4595Ala)
19g.38572143A>GCA405680746RYR1c.807A>G
c.2204A>G
c.2176A>G
c.13871A>G (p.Glu4624Gly)
c.13856A>G (p.Glu4619Gly)
c.13853A>G (p.Glu4618Gly)
c.331A>G
c.13838A>G (p.Glu4613Gly)
c.13868A>G (p.Glu4623Gly)
c.13784A>G (p.Glu4595Gly)
19g.38572143A>TCA405680750RYR1c.807A>T
c.2204A>T
c.2176A>T
c.13871A>T (p.Glu4624Val)
c.13856A>T (p.Glu4619Val)
c.13853A>T (p.Glu4618Val)
c.331A>T
c.13838A>T (p.Glu4613Val)
c.13868A>T (p.Glu4623Val)
c.13784A>T (p.Glu4595Val)
19g.38572144G>ACA507356092RYR1c.808G>A
c.2205G>A
c.2177G>A
c.13872G>A (p.Glu4624=)
c.13857G>A (p.Glu4619=)
c.13854G>A (p.Glu4618=)
c.332G>A
c.13839G>A (p.Glu4613=)
c.13869G>A (p.Glu4623=)
c.13785G>A (p.Glu4595=)
19g.38572144G>CCA308114091RYR1c.808G>C
c.2205G>C
c.2177G>C
c.13872G>C (p.Glu4624Asp)
c.13857G>C (p.Glu4619Asp)
c.13854G>C (p.Glu4618Asp)
c.332G>C
c.13839G>C (p.Glu4613Asp)
c.13869G>C (p.Glu4623Asp)
c.13785G>C (p.Glu4595Asp)
dbSNP
19g.38572144G=CA2335088409RYR1c.808G=
c.2205G=
c.2177G=
c.13872G= (p.Glu4624=)
c.13857G= (p.Glu4619=)
c.13854G= (p.Glu4618=)
c.332G=
c.13839G= (p.Glu4613=)
c.13869G= (p.Glu4623=)
c.13785G= (p.Glu4595=)
19g.38572144G>TCA405680753RYR1c.808G>T
c.2205G>T
c.2177G>T
c.13872G>T (p.Glu4624Asp)
c.13857G>T (p.Glu4619Asp)
c.13854G>T (p.Glu4618Asp)
c.332G>T
c.13839G>T (p.Glu4613Asp)
c.13869G>T (p.Glu4623Asp)
c.13785G>T (p.Glu4595Asp)
19g.38572145G>ACA405680758RYR1c.809G>A
c.2206G>A
c.2178G>A
c.13873G>A (p.Asp4625Asn)
c.13858G>A (p.Asp4620Asn)
c.13855G>A (p.Asp4619Asn)
c.333G>A
c.13840G>A (p.Asp4614Asn)
c.13870G>A (p.Asp4624Asn)
c.13786G>A (p.Asp4596Asn)
19g.38572145G>CCA405680759RYR1c.809G>C
c.2206G>C
c.2178G>C
c.13873G>C (p.Asp4625His)
c.13858G>C (p.Asp4620His)
c.13855G>C (p.Asp4619His)
c.333G>C
c.13840G>C (p.Asp4614His)
c.13870G>C (p.Asp4624His)
c.13786G>C (p.Asp4596His)
19g.38572145G>TCA405680760RYR1c.809G>T
c.2206G>T
c.2178G>T
c.13873G>T (p.Asp4625Tyr)
c.13858G>T (p.Asp4620Tyr)
c.13855G>T (p.Asp4619Tyr)
c.333G>T
c.13840G>T (p.Asp4614Tyr)
c.13870G>T (p.Asp4624Tyr)
c.13786G>T (p.Asp4596Tyr)
gnomAD v4
19g.38572146A=CA2335088410RYR1c.810A=
c.2207A=
c.2179A=
c.13874A= (p.Asp4625=)
c.13859A= (p.Asp4620=)
c.13856A= (p.Asp4619=)
c.334A=
c.13841A= (p.Asp4614=)
c.13871A= (p.Asp4624=)
c.13787A= (p.Asp4596=)
19g.38572146A>CCA405680765RYR1c.810A>C
c.2207A>C
c.2179A>C
c.13874A>C (p.Asp4625Ala)
c.13859A>C (p.Asp4620Ala)
c.13856A>C (p.Asp4619Ala)
c.334A>C
c.13841A>C (p.Asp4614Ala)
c.13871A>C (p.Asp4624Ala)
c.13787A>C (p.Asp4596Ala)
19g.38572146A>GCA060624RYR1c.810A>G
c.2207A>G
c.2179A>G
c.13874A>G (p.Asp4625Gly)
c.13859A>G (p.Asp4620Gly)
c.13856A>G (p.Asp4619Gly)
c.334A>G
c.13841A>G (p.Asp4614Gly)
c.13871A>G (p.Asp4624Gly)
c.13787A>G (p.Asp4596Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38572146A>TCA405680762RYR1c.810A>T
c.2207A>T
c.2179A>T
c.13874A>T (p.Asp4625Val)
c.13859A>T (p.Asp4620Val)
c.13856A>T (p.Asp4619Val)
c.334A>T
c.13841A>T (p.Asp4614Val)
c.13871A>T (p.Asp4624Val)
c.13787A>T (p.Asp4596Val)
19g.38572147T>ACA405680767RYR1c.811T>A
c.2208T>A
c.2180T>A
c.13875T>A (p.Asp4625Glu)
c.13860T>A (p.Asp4620Glu)
c.13857T>A (p.Asp4619Glu)
c.335T>A
c.13842T>A (p.Asp4614Glu)
c.13872T>A (p.Asp4624Glu)
c.13788T>A (p.Asp4596Glu)
19g.38572147T>CCA507356099RYR1c.811T>C
c.2208T>C
c.2180T>C
c.13875T>C (p.Asp4625=)
c.13860T>C (p.Asp4620=)
c.13857T>C (p.Asp4619=)
c.335T>C
c.13842T>C (p.Asp4614=)
c.13872T>C (p.Asp4624=)
c.13788T>C (p.Asp4596=)
19g.38572147T>GCA405680770RYR1c.811T>G
c.2208T>G
c.2180T>G
c.13875T>G (p.Asp4625Glu)
c.13860T>G (p.Asp4620Glu)
c.13857T>G (p.Asp4619Glu)
c.335T>G
c.13842T>G (p.Asp4614Glu)
c.13872T>G (p.Asp4624Glu)
c.13788T>G (p.Asp4596Glu)
19g.38572148G>ACA405680772RYR1c.812G>A
c.2209G>A
c.2181G>A
c.13876G>A (p.Glu4626Lys)
c.13861G>A (p.Glu4621Lys)
c.13858G>A (p.Glu4620Lys)
c.336G>A
c.13843G>A (p.Glu4615Lys)
c.13873G>A (p.Glu4625Lys)
c.13789G>A (p.Glu4597Lys)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.38572148G>CCA405680774RYR1c.812G>C
c.2209G>C
c.2181G>C
c.13876G>C (p.Glu4626Gln)
c.13861G>C (p.Glu4621Gln)
c.13858G>C (p.Glu4620Gln)
c.336G>C
c.13843G>C (p.Glu4615Gln)
c.13873G>C (p.Glu4625Gln)
c.13789G>C (p.Glu4597Gln)
19g.38572148G=CA2335088411RYR1c.812G=
c.2209G=
c.2181G=
c.13876G= (p.Glu4626=)
c.13861G= (p.Glu4621=)
c.13858G= (p.Glu4620=)
c.336G=
c.13843G= (p.Glu4615=)
c.13873G= (p.Glu4625=)
c.13789G= (p.Glu4597=)
19g.38572148G>TCA405680776RYR1c.812G>T
c.2209G>T
c.2181G>T
c.13876G>T (p.Glu4626Ter)
c.13861G>T (p.Glu4621Ter)
c.13858G>T (p.Glu4620Ter)
c.336G>T
c.13843G>T (p.Glu4615Ter)
c.13873G>T (p.Glu4625Ter)
c.13789G>T (p.Glu4597Ter)
19g.38572149A>CCA405680779RYR1c.813A>C
c.2210A>C
c.2182A>C
c.13877A>C (p.Glu4626Ala)
c.13862A>C (p.Glu4621Ala)
c.13859A>C (p.Glu4620Ala)
c.337A>C
c.13844A>C (p.Glu4615Ala)
c.13874A>C (p.Glu4625Ala)
c.13790A>C (p.Glu4597Ala)
19g.38572149A>GCA081027RYR1c.813A>G
c.2210A>G
c.2182A>G
c.13877A>G (p.Glu4626Gly)
c.13862A>G (p.Glu4621Gly)
c.13859A>G (p.Glu4620Gly)
c.337A>G
c.13844A>G (p.Glu4615Gly)
c.13874A>G (p.Glu4625Gly)
c.13790A>G (p.Glu4597Gly)
19g.38572149A>TCA405680780RYR1c.813A>T
c.2210A>T
c.2182A>T
c.13877A>T (p.Glu4626Val)
c.13862A>T (p.Glu4621Val)
c.13859A>T (p.Glu4620Val)
c.337A>T
c.13844A>T (p.Glu4615Val)
c.13874A>T (p.Glu4625Val)
c.13790A>T (p.Glu4597Val)
19g.38572150G>ACA507356103RYR1c.814G>A
c.2211G>A
c.2183G>A
c.13878G>A (p.Glu4626=)
c.13863G>A (p.Glu4621=)
c.13860G>A (p.Glu4620=)
c.338G>A
c.13845G>A (p.Glu4615=)
c.13875G>A (p.Glu4625=)
c.13791G>A (p.Glu4597=)
gnomAD v4
19g.38572150G>CCA405680783RYR1c.814G>C
c.2211G>C
c.2183G>C
c.13878G>C (p.Glu4626Asp)
c.13863G>C (p.Glu4621Asp)
c.13860G>C (p.Glu4620Asp)
c.338G>C
c.13845G>C (p.Glu4615Asp)
c.13875G>C (p.Glu4625Asp)
c.13791G>C (p.Glu4597Asp)
gnomAD v4
19g.38572150G>TCA405680784RYR1c.814G>T
c.2211G>T
c.2183G>T
c.13878G>T (p.Glu4626Asp)
c.13863G>T (p.Glu4621Asp)
c.13860G>T (p.Glu4620Asp)
c.338G>T
c.13845G>T (p.Glu4615Asp)
c.13875G>T (p.Glu4625Asp)
c.13791G>T (p.Glu4597Asp)
19g.38572151A>CCA405680786RYR1c.815A>C
c.2212A>C
c.2184A>C
c.13879A>C (p.Asn4627His)
c.13864A>C (p.Asn4622His)
c.13861A>C (p.Asn4621His)
c.339A>C
c.13846A>C (p.Asn4616His)
c.13876A>C (p.Asn4626His)
c.13792A>C (p.Asn4598His)
gnomAD v4
19g.38572151A>GCA405680788RYR1c.815A>G
c.2212A>G
c.2184A>G
c.13879A>G (p.Asn4627Asp)
c.13864A>G (p.Asn4622Asp)
c.13861A>G (p.Asn4621Asp)
c.339A>G
c.13846A>G (p.Asn4616Asp)
c.13876A>G (p.Asn4626Asp)
c.13792A>G (p.Asn4598Asp)
19g.38572151A>TCA405680790RYR1c.815A>T
c.2212A>T
c.2184A>T
c.13879A>T (p.Asn4627Tyr)
c.13864A>T (p.Asn4622Tyr)
c.13861A>T (p.Asn4621Tyr)
c.339A>T
c.13846A>T (p.Asn4616Tyr)
c.13876A>T (p.Asn4626Tyr)
c.13792A>T (p.Asn4598Tyr)
19g.38572152A=CA2335088412RYR1c.816A=
c.2213A=
c.2185A=
c.13880A= (p.Asn4627=)
c.13865A= (p.Asn4622=)
c.13862A= (p.Asn4621=)
c.340A=
c.13847A= (p.Asn4616=)
c.13877A= (p.Asn4626=)
c.13793A= (p.Asn4598=)
19g.38572152A>CCA405680793RYR1c.816A>C
c.2213A>C
c.2185A>C
c.13880A>C (p.Asn4627Thr)
c.13865A>C (p.Asn4622Thr)
c.13862A>C (p.Asn4621Thr)
c.340A>C
c.13847A>C (p.Asn4616Thr)
c.13877A>C (p.Asn4626Thr)
c.13793A>C (p.Asn4598Thr)
19g.38572152A>GCA405680794RYR1c.816A>G
c.2213A>G
c.2185A>G
c.13880A>G (p.Asn4627Ser)
c.13865A>G (p.Asn4622Ser)
c.13862A>G (p.Asn4621Ser)
c.340A>G
c.13847A>G (p.Asn4616Ser)
c.13877A>G (p.Asn4626Ser)
c.13793A>G (p.Asn4598Ser)
gnomAD v4
19g.38572152A>TCA405680792RYR1c.816A>T
c.2213A>T
c.2185A>T
c.13880A>T (p.Asn4627Ile)
c.13865A>T (p.Asn4622Ile)
c.13862A>T (p.Asn4621Ile)
c.340A>T
c.13847A>T (p.Asn4616Ile)
c.13877A>T (p.Asn4626Ile)
c.13793A>T (p.Asn4598Ile)
19g.38572153C>ACA405680796RYR1c.817C>A
c.2214C>A
c.2186C>A
c.13881C>A (p.Asn4627Lys)
c.13866C>A (p.Asn4622Lys)
c.13863C>A (p.Asn4621Lys)
c.341C>A
c.13848C>A (p.Asn4616Lys)
c.13878C>A (p.Asn4626Lys)
c.13794C>A (p.Asn4598Lys)
19g.38572153C=CA2335088413RYR1c.817C=
c.2214C=
c.2186C=
c.13881C= (p.Asn4627=)
c.13866C= (p.Asn4622=)
c.13863C= (p.Asn4621=)
c.341C=
c.13848C= (p.Asn4616=)
c.13878C= (p.Asn4626=)
c.13794C= (p.Asn4598=)
19g.38572153C>GCA405680804RYR1c.817C>G
c.2214C>G
c.2186C>G
c.13881C>G (p.Asn4627Lys)
c.13866C>G (p.Asn4622Lys)
c.13863C>G (p.Asn4621Lys)
c.341C>G
c.13848C>G (p.Asn4616Lys)
c.13878C>G (p.Asn4626Lys)
c.13794C>G (p.Asn4598Lys)
19g.38572153C>TCA060628RYR1c.817C>T
c.2214C>T
c.2186C>T
c.13881C>T (p.Asn4627=)
c.13866C>T (p.Asn4622=)
c.13863C>T (p.Asn4621=)
c.341C>T
c.13848C>T (p.Asn4616=)
c.13878C>T (p.Asn4626=)
c.13794C>T (p.Asn4598=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38572154_38572168dupCA658799220RYR1c.818_832dup
c.2215_2229dup
c.2187_2201dup
c.13882_13896dup (p.Phe4632_Leu4633insMetValTyrTyrPhe)
c.13867_13881dup (p.Phe4627_Leu4628insMetValTyrTyrPhe)
c.13864_13878dup (p.Phe4626_Leu4627insMetValTyrTyrPhe)
c.342_356dup
c.13849_13863dup (p.Phe4621_Leu4622insMetValTyrTyrPhe)
c.13879_13893dup (p.Phe4631_Leu4632insMetValTyrTyrPhe)
c.13795_13809dup (p.Phe4603_Leu4604insMetValTyrTyrPhe)
ClinVar dbSNP
19g.38572154A>CCA405680807RYR1c.818A>C
c.2215A>C
c.2187A>C
c.13882A>C (p.Met4628Leu)
c.13867A>C (p.Met4623Leu)
c.13864A>C (p.Met4622Leu)
c.342A>C
c.13849A>C (p.Met4617Leu)
c.13879A>C (p.Met4627Leu)
c.13795A>C (p.Met4599Leu)
19g.38572154A>GCA405680808RYR1c.818A>G
c.2215A>G
c.2187A>G
c.13882A>G (p.Met4628Val)
c.13867A>G (p.Met4623Val)
c.13864A>G (p.Met4622Val)
c.342A>G
c.13849A>G (p.Met4617Val)
c.13879A>G (p.Met4627Val)
c.13795A>G (p.Met4599Val)
ClinVar dbSNP gnomAD v4
19g.38572154A>TCA405680809RYR1c.818A>T
c.2215A>T
c.2187A>T
c.13882A>T (p.Met4628Leu)
c.13867A>T (p.Met4623Leu)
c.13864A>T (p.Met4622Leu)
c.342A>T
c.13849A>T (p.Met4617Leu)
c.13879A>T (p.Met4627Leu)
c.13795A>T (p.Met4599Leu)
COSMIC
19g.38572155T>ACA405680810RYR1c.819T>A
c.2216T>A
c.2188T>A
c.13883T>A (p.Met4628Lys)
c.13868T>A (p.Met4623Lys)
c.13865T>A (p.Met4622Lys)
c.343T>A
c.13850T>A (p.Met4617Lys)
c.13880T>A (p.Met4627Lys)
c.13796T>A (p.Met4599Lys)
19g.38572155T>CCA405680811RYR1c.819T>C
c.2216T>C
c.2188T>C
c.13883T>C (p.Met4628Thr)
c.13868T>C (p.Met4623Thr)
c.13865T>C (p.Met4622Thr)
c.343T>C
c.13850T>C (p.Met4617Thr)
c.13880T>C (p.Met4627Thr)
c.13796T>C (p.Met4599Thr)
19g.38572155T>GCA405680812RYR1c.819T>G
c.2216T>G
c.2188T>G
c.13883T>G (p.Met4628Arg)
c.13868T>G (p.Met4623Arg)
c.13865T>G (p.Met4622Arg)
c.343T>G
c.13850T>G (p.Met4617Arg)
c.13880T>G (p.Met4627Arg)
c.13796T>G (p.Met4599Arg)
19g.38572156G>ACA405680815RYR1c.820G>A
c.2217G>A
c.2189G>A
c.13884G>A (p.Met4628Ile)
c.13869G>A (p.Met4623Ile)
c.13866G>A (p.Met4622Ile)
c.344G>A
c.13851G>A (p.Met4617Ile)
c.13881G>A (p.Met4627Ile)
c.13797G>A (p.Met4599Ile)
dbSNP gnomAD v4
19g.38572156G>CCA405680817RYR1c.820G>C
c.2217G>C
c.2189G>C
c.13884G>C (p.Met4628Ile)
c.13869G>C (p.Met4623Ile)
c.13866G>C (p.Met4622Ile)
c.344G>C
c.13851G>C (p.Met4617Ile)
c.13881G>C (p.Met4627Ile)
c.13797G>C (p.Met4599Ile)
19g.38572156G=CA2335088414RYR1c.820G=
c.2217G=
c.2189G=
c.13884G= (p.Met4628=)
c.13869G= (p.Met4623=)
c.13866G= (p.Met4622=)
c.344G=
c.13851G= (p.Met4617=)
c.13881G= (p.Met4627=)
c.13797G= (p.Met4599=)
19g.38572156G>TCA405680819RYR1c.820G>T
c.2217G>T
c.2189G>T
c.13884G>T (p.Met4628Ile)
c.13869G>T (p.Met4623Ile)
c.13866G>T (p.Met4622Ile)
c.344G>T
c.13851G>T (p.Met4617Ile)
c.13881G>T (p.Met4627Ile)
c.13797G>T (p.Met4599Ile)
dbSNP
19g.38572157G>ACA060632RYR1c.821G>A
c.2218G>A
c.2190G>A
c.13885G>A (p.Val4629Met)
c.13870G>A (p.Val4624Met)
c.13867G>A (p.Val4623Met)
c.345G>A
c.13852G>A (p.Val4618Met)
c.13882G>A (p.Val4628Met)
c.13798G>A (p.Val4600Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38572157G>CCA405680823RYR1c.821G>C
c.2218G>C
c.2190G>C
c.13885G>C (p.Val4629Leu)
c.13870G>C (p.Val4624Leu)
c.13867G>C (p.Val4623Leu)
c.345G>C
c.13852G>C (p.Val4618Leu)
c.13882G>C (p.Val4628Leu)
c.13798G>C (p.Val4600Leu)
19g.38572157G=CA2335088415RYR1c.821G=
c.2218G=
c.2190G=
c.13885G= (p.Val4629=)
c.13870G= (p.Val4624=)
c.13867G= (p.Val4623=)
c.345G=
c.13852G= (p.Val4618=)
c.13882G= (p.Val4628=)
c.13798G= (p.Val4600=)
19g.38572157G>TCA405680825RYR1c.821G>T
c.2218G>T
c.2190G>T
c.13885G>T (p.Val4629Leu)
c.13870G>T (p.Val4624Leu)
c.13867G>T (p.Val4623Leu)
c.345G>T
c.13852G>T (p.Val4618Leu)
c.13882G>T (p.Val4628Leu)
c.13798G>T (p.Val4600Leu)
19g.38572158T>ACA405680829RYR1c.822T>A
c.2219T>A
c.2191T>A
c.13886T>A (p.Val4629Glu)
c.13871T>A (p.Val4624Glu)
c.13868T>A (p.Val4623Glu)
c.346T>A
c.13853T>A (p.Val4618Glu)
c.13883T>A (p.Val4628Glu)
c.13799T>A (p.Val4600Glu)
19g.38572158T>CCA060633RYR1c.822T>C
c.2219T>C
c.2191T>C
c.13886T>C (p.Val4629Ala)
c.13871T>C (p.Val4624Ala)
c.13868T>C (p.Val4623Ala)
c.346T>C
c.13853T>C (p.Val4618Ala)
c.13883T>C (p.Val4628Ala)
c.13799T>C (p.Val4600Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38572158T>GCA405680828RYR1c.822T>G
c.2219T>G
c.2191T>G
c.13886T>G (p.Val4629Gly)
c.13871T>G (p.Val4624Gly)
c.13868T>G (p.Val4623Gly)
c.346T>G
c.13853T>G (p.Val4618Gly)
c.13883T>G (p.Val4628Gly)
c.13799T>G (p.Val4600Gly)
19g.38572158T=CA2335088416RYR1c.822T=
c.2219T=
c.2191T=
c.13886T= (p.Val4629=)
c.13871T= (p.Val4624=)
c.13868T= (p.Val4623=)
c.346T=
c.13853T= (p.Val4618=)
c.13883T= (p.Val4628=)
c.13799T= (p.Val4600=)
19g.38572159G>ACA507356116RYR1c.823G>A
c.2220G>A
c.2192G>A
c.13887G>A (p.Val4629=)
c.13872G>A (p.Val4624=)
c.13869G>A (p.Val4623=)
c.347G>A
c.13854G>A (p.Val4618=)
c.13884G>A (p.Val4628=)
c.13800G>A (p.Val4600=)
ClinVar dbSNP gnomAD v4
19g.38572159G>CCA507356117RYR1c.823G>C
c.2220G>C
c.2192G>C
c.13887G>C (p.Val4629=)
c.13872G>C (p.Val4624=)
c.13869G>C (p.Val4623=)
c.347G>C
c.13854G>C (p.Val4618=)
c.13884G>C (p.Val4628=)
c.13800G>C (p.Val4600=)
19g.38572159G=CA2335088417RYR1c.823G=
c.2220G=
c.2192G=
c.13887G= (p.Val4629=)
c.13872G= (p.Val4624=)
c.13869G= (p.Val4623=)
c.347G=
c.13854G= (p.Val4618=)
c.13884G= (p.Val4628=)
c.13800G= (p.Val4600=)
19g.38572159G>TCA507356118RYR1c.823G>T
c.2220G>T
c.2192G>T
c.13887G>T (p.Val4629=)
c.13872G>T (p.Val4624=)
c.13869G>T (p.Val4623=)
c.347G>T
c.13854G>T (p.Val4618=)
c.13884G>T (p.Val4628=)
c.13800G>T (p.Val4600=)
19g.38572160T>ACA405680833RYR1c.824T>A
c.2221T>A
c.2193T>A
c.13888T>A (p.Tyr4630Asn)
c.13873T>A (p.Tyr4625Asn)
c.13870T>A (p.Tyr4624Asn)
c.348T>A
c.13855T>A (p.Tyr4619Asn)
c.13885T>A (p.Tyr4629Asn)
c.13801T>A (p.Tyr4601Asn)
19g.38572160T>CCA405680834RYR1c.824T>C
c.2221T>C
c.2193T>C
c.13888T>C (p.Tyr4630His)
c.13873T>C (p.Tyr4625His)
c.13870T>C (p.Tyr4624His)
c.348T>C
c.13855T>C (p.Tyr4619His)
c.13885T>C (p.Tyr4629His)
c.13801T>C (p.Tyr4601His)
19g.38572160T>GCA405680837RYR1c.824T>G
c.2221T>G
c.2193T>G
c.13888T>G (p.Tyr4630Asp)
c.13873T>G (p.Tyr4625Asp)
c.13870T>G (p.Tyr4624Asp)
c.348T>G
c.13855T>G (p.Tyr4619Asp)
c.13885T>G (p.Tyr4629Asp)
c.13801T>G (p.Tyr4601Asp)
19g.38572161A>CCA405680840RYR1c.825A>C
c.2222A>C
c.2194A>C
c.13889A>C (p.Tyr4630Ser)
c.13874A>C (p.Tyr4625Ser)
c.13871A>C (p.Tyr4624Ser)
c.349A>C
c.13856A>C (p.Tyr4619Ser)
c.13886A>C (p.Tyr4629Ser)
c.13802A>C (p.Tyr4601Ser)
19g.38572161A>GCA405680842RYR1c.825A>G
c.2222A>G
c.2194A>G
c.13889A>G (p.Tyr4630Cys)
c.13874A>G (p.Tyr4625Cys)
c.13871A>G (p.Tyr4624Cys)
c.349A>G
c.13856A>G (p.Tyr4619Cys)
c.13886A>G (p.Tyr4629Cys)
c.13802A>G (p.Tyr4601Cys)
19g.38572161A>TCA405680844RYR1c.825A>T
c.2222A>T
c.2194A>T
c.13889A>T (p.Tyr4630Phe)
c.13874A>T (p.Tyr4625Phe)
c.13871A>T (p.Tyr4624Phe)
c.349A>T
c.13856A>T (p.Tyr4619Phe)
c.13886A>T (p.Tyr4629Phe)
c.13802A>T (p.Tyr4601Phe)
19g.38572162C>ACA405680846RYR1c.826C>A
c.2223C>A
c.2195C>A
c.13890C>A (p.Tyr4630Ter)
c.13875C>A (p.Tyr4625Ter)
c.13872C>A (p.Tyr4624Ter)
c.350C>A
c.13857C>A (p.Tyr4619Ter)
c.13887C>A (p.Tyr4629Ter)
c.13803C>A (p.Tyr4601Ter)
19g.38572162C>GCA405680847RYR1c.826C>G
c.2223C>G
c.2195C>G
c.13890C>G (p.Tyr4630Ter)
c.13875C>G (p.Tyr4625Ter)
c.13872C>G (p.Tyr4624Ter)
c.350C>G
c.13857C>G (p.Tyr4619Ter)
c.13887C>G (p.Tyr4629Ter)
c.13803C>G (p.Tyr4601Ter)
19g.38572162C>TCA507356123RYR1c.826C>T
c.2223C>T
c.2195C>T
c.13890C>T (p.Tyr4630=)
c.13875C>T (p.Tyr4625=)
c.13872C>T (p.Tyr4624=)
c.350C>T
c.13857C>T (p.Tyr4619=)
c.13887C>T (p.Tyr4629=)
c.13803C>T (p.Tyr4601=)
19g.38572163T>ACA024074RYR1c.827T>A
c.2224T>A
c.2196T>A
c.13891T>A (p.Tyr4631Asn)
c.13876T>A (p.Tyr4626Asn)
c.13873T>A (p.Tyr4625Asn)
c.351T>A
c.13858T>A (p.Tyr4620Asn)
c.13888T>A (p.Tyr4630Asn)
c.13804T>A (p.Tyr4602Asn)
ClinVar dbSNP
19g.38572163T>CCA405680853RYR1c.827T>C
c.2224T>C
c.2196T>C
c.13891T>C (p.Tyr4631His)
c.13876T>C (p.Tyr4626His)
c.13873T>C (p.Tyr4625His)
c.351T>C
c.13858T>C (p.Tyr4620His)
c.13888T>C (p.Tyr4630His)
c.13804T>C (p.Tyr4602His)
19g.38572163T>GCA405680857RYR1c.827T>G
c.2224T>G
c.2196T>G
c.13891T>G (p.Tyr4631Asp)
c.13876T>G (p.Tyr4626Asp)
c.13873T>G (p.Tyr4625Asp)
c.351T>G
c.13858T>G (p.Tyr4620Asp)
c.13888T>G (p.Tyr4630Asp)
c.13804T>G (p.Tyr4602Asp)
19g.38572163T=CA2335088418RYR1c.827T=
c.2224T=
c.2196T=
c.13891T= (p.Tyr4631=)
c.13876T= (p.Tyr4626=)
c.13873T= (p.Tyr4625=)
c.351T=
c.13858T= (p.Tyr4620=)
c.13888T= (p.Tyr4630=)
c.13804T= (p.Tyr4602=)
19g.38572164A=CA2335088419RYR1c.828A=
c.2225A=
c.2197A=
c.13892A= (p.Tyr4631=)
c.13877A= (p.Tyr4626=)
c.13874A= (p.Tyr4625=)
c.352A=
c.13859A= (p.Tyr4620=)
c.13889A= (p.Tyr4630=)
c.13805A= (p.Tyr4602=)
19g.38572164A>CCA405680876RYR1c.828A>C
c.2225A>C
c.2197A>C
c.13892A>C (p.Tyr4631Ser)
c.13877A>C (p.Tyr4626Ser)
c.13874A>C (p.Tyr4625Ser)
c.352A>C
c.13859A>C (p.Tyr4620Ser)
c.13889A>C (p.Tyr4630Ser)
c.13805A>C (p.Tyr4602Ser)
ClinVar dbSNP
19g.38572164A>GCA405680883RYR1c.828A>G
c.2225A>G
c.2197A>G
c.13892A>G (p.Tyr4631Cys)
c.13877A>G (p.Tyr4626Cys)
c.13874A>G (p.Tyr4625Cys)
c.352A>G
c.13859A>G (p.Tyr4620Cys)
c.13889A>G (p.Tyr4630Cys)
c.13805A>G (p.Tyr4602Cys)
ClinVar dbSNP gnomAD v4
19g.38572164A>TCA405680885RYR1c.828A>T
c.2225A>T
c.2197A>T
c.13892A>T (p.Tyr4631Phe)
c.13877A>T (p.Tyr4626Phe)
c.13874A>T (p.Tyr4625Phe)
c.352A>T
c.13859A>T (p.Tyr4620Phe)
c.13889A>T (p.Tyr4630Phe)
c.13805A>T (p.Tyr4602Phe)
19g.38572165C>ACA405680890RYR1c.829C>A
c.2226C>A
c.2198C>A
c.13893C>A (p.Tyr4631Ter)
c.13878C>A (p.Tyr4626Ter)
c.13875C>A (p.Tyr4625Ter)
c.353C>A
c.13860C>A (p.Tyr4620Ter)
c.13890C>A (p.Tyr4630Ter)
c.13806C>A (p.Tyr4602Ter)
19g.38572165C=CA2335088421RYR1c.829C=
c.2226C=
c.2198C=
c.13893C= (p.Tyr4631=)
c.13878C= (p.Tyr4626=)
c.13875C= (p.Tyr4625=)
c.353C=
c.13860C= (p.Tyr4620=)
c.13890C= (p.Tyr4630=)
c.13806C= (p.Tyr4602=)
19g.38572165C>GCA405680893RYR1c.829C>G
c.2226C>G
c.2198C>G
c.13893C>G (p.Tyr4631Ter)
c.13878C>G (p.Tyr4626Ter)
c.13875C>G (p.Tyr4625Ter)
c.353C>G
c.13860C>G (p.Tyr4620Ter)
c.13890C>G (p.Tyr4630Ter)
c.13806C>G (p.Tyr4602Ter)
ClinVar
19g.38572165C>TCA507356125RYR1c.829C>T
c.2226C>T
c.2198C>T
c.13893C>T (p.Tyr4631=)
c.13878C>T (p.Tyr4626=)
c.13875C>T (p.Tyr4625=)
c.353C>T
c.13860C>T (p.Tyr4620=)
c.13890C>T (p.Tyr4630=)
c.13806C>T (p.Tyr4602=)
dbSNP
19g.38572165_38572166delinsCTCA2335088420RYR1c.829_830delinsCT
c.2226_2227delinsCT
c.2198_2199delinsCT
c.13893_13894delinsCT (p.Tyr4631=)
c.13878_13879delinsCT (p.Tyr4626=)
c.13875_13876delinsCT (p.Tyr4625=)
c.353_354delinsCT
c.13860_13861delinsCT (p.Tyr4620=)
c.13890_13891delinsCT (p.Tyr4630=)
c.13806_13807delinsCT (p.Tyr4602=)
19g.38572166T>ACA405680894RYR1c.830T>A
c.2227T>A
c.2199T>A
c.13894T>A (p.Phe4632Ile)
c.13879T>A (p.Phe4627Ile)
c.13876T>A (p.Phe4626Ile)
c.354T>A
c.13861T>A (p.Phe4621Ile)
c.13891T>A (p.Phe4631Ile)
c.13807T>A (p.Phe4603Ile)
19g.38572166T>CCA405680895RYR1c.830T>C
c.2227T>C
c.2199T>C
c.13894T>C (p.Phe4632Leu)
c.13879T>C (p.Phe4627Leu)
c.13876T>C (p.Phe4626Leu)
c.354T>C
c.13861T>C (p.Phe4621Leu)
c.13891T>C (p.Phe4631Leu)
c.13807T>C (p.Phe4603Leu)
19g.38572166T>GCA405680896RYR1c.830T>G
c.2227T>G
c.2199T>G
c.13894T>G (p.Phe4632Val)
c.13879T>G (p.Phe4627Val)
c.13876T>G (p.Phe4626Val)
c.354T>G
c.13861T>G (p.Phe4621Val)
c.13891T>G (p.Phe4631Val)
c.13807T>G (p.Phe4603Val)
dbSNP gnomAD v2 gnomAD v4
19g.38572166T=CA2335088422RYR1c.830T=
c.2227T=
c.2199T=
c.13894T= (p.Phe4632=)
c.13879T= (p.Phe4627=)
c.13876T= (p.Phe4626=)
c.354T=
c.13861T= (p.Phe4621=)
c.13891T= (p.Phe4631=)
c.13807T= (p.Phe4603=)
19g.38572167delCA916082462RYR1c.831del
c.2228del
c.2200del
c.13895del (p.Phe4632SerfsTer16)
c.13880del (p.Phe4627SerfsTer16)
c.13877del (p.Phe4626SerfsTer16)
c.355del
c.13862del (p.Phe4621SerfsTer16)
c.13892del (p.Phe4631SerfsTer16)
c.13808del (p.Phe4603SerfsTer16)
ClinVar dbSNP
19g.38572167T>ACA405680898RYR1c.831T>A
c.2228T>A
c.2200T>A
c.13895T>A (p.Phe4632Tyr)
c.13880T>A (p.Phe4627Tyr)
c.13877T>A (p.Phe4626Tyr)
c.355T>A
c.13862T>A (p.Phe4621Tyr)
c.13892T>A (p.Phe4631Tyr)
c.13808T>A (p.Phe4603Tyr)
19g.38572167T>CCA405680899RYR1c.831T>C
c.2228T>C
c.2200T>C
c.13895T>C (p.Phe4632Ser)
c.13880T>C (p.Phe4627Ser)
c.13877T>C (p.Phe4626Ser)
c.355T>C
c.13862T>C (p.Phe4621Ser)
c.13892T>C (p.Phe4631Ser)
c.13808T>C (p.Phe4603Ser)
19g.38572167T>GCA405680901RYR1c.831T>G
c.2228T>G
c.2200T>G
c.13895T>G (p.Phe4632Cys)
c.13880T>G (p.Phe4627Cys)
c.13877T>G (p.Phe4626Cys)
c.355T>G
c.13862T>G (p.Phe4621Cys)
c.13892T>G (p.Phe4631Cys)
c.13808T>G (p.Phe4603Cys)
19g.38572168C>ACA405680907RYR1c.832C>A
c.2229C>A
c.2201C>A
c.13896C>A (p.Phe4632Leu)
c.13881C>A (p.Phe4627Leu)
c.13878C>A (p.Phe4626Leu)
c.356C>A
c.13863C>A (p.Phe4621Leu)
c.13893C>A (p.Phe4631Leu)
c.13809C>A (p.Phe4603Leu)
19g.38572168C>GCA405680909RYR1c.832C>G
c.2229C>G
c.2201C>G
c.13896C>G (p.Phe4632Leu)
c.13881C>G (p.Phe4627Leu)
c.13878C>G (p.Phe4626Leu)
c.356C>G
c.13863C>G (p.Phe4621Leu)
c.13893C>G (p.Phe4631Leu)
c.13809C>G (p.Phe4603Leu)
19g.38572168C>TCA507356130RYR1c.832C>T
c.2229C>T
c.2201C>T
c.13896C>T (p.Phe4632=)
c.13881C>T (p.Phe4627=)
c.13878C>T (p.Phe4626=)
c.356C>T
c.13863C>T (p.Phe4621=)
c.13893C>T (p.Phe4631=)
c.13809C>T (p.Phe4603=)
ClinVar
19g.38572169C>ACA405680913RYR1c.833C>A
c.2230C>A
c.2202C>A
c.13897C>A (p.Leu4633Met)
c.13882C>A (p.Leu4628Met)
c.13879C>A (p.Leu4627Met)
c.357C>A
c.13864C>A (p.Leu4622Met)
c.13894C>A (p.Leu4632Met)
c.13810C>A (p.Leu4604Met)
19g.38572169C>GCA405680916RYR1c.833C>G
c.2230C>G
c.2202C>G
c.13897C>G (p.Leu4633Val)
c.13882C>G (p.Leu4628Val)
c.13879C>G (p.Leu4627Val)
c.357C>G
c.13864C>G (p.Leu4622Val)
c.13894C>G (p.Leu4632Val)
c.13810C>G (p.Leu4604Val)
19g.38572169C>TCA507356132RYR1c.833C>T
c.2230C>T
c.2202C>T
c.13897C>T (p.Leu4633=)
c.13882C>T (p.Leu4628=)
c.13879C>T (p.Leu4627=)
c.357C>T
c.13864C>T (p.Leu4622=)
c.13894C>T (p.Leu4632=)
c.13810C>T (p.Leu4604=)
19g.38572170T>ACA405680919RYR1c.834T>A
c.2231T>A
c.2203T>A
c.13898T>A (p.Leu4633Gln)
c.13883T>A (p.Leu4628Gln)
c.13880T>A (p.Leu4627Gln)
c.358T>A
c.13865T>A (p.Leu4622Gln)
c.13895T>A (p.Leu4632Gln)
c.13811T>A (p.Leu4604Gln)
ClinVar dbSNP
19g.38572170T>CCA405680920RYR1c.834T>C
c.2231T>C
c.2203T>C
c.13898T>C (p.Leu4633Pro)
c.13883T>C (p.Leu4628Pro)
c.13880T>C (p.Leu4627Pro)
c.358T>C
c.13865T>C (p.Leu4622Pro)
c.13895T>C (p.Leu4632Pro)
c.13811T>C (p.Leu4604Pro)
ClinVar dbSNP
19g.38572170T>GCA405680923RYR1c.834T>G
c.2231T>G
c.2203T>G
c.13898T>G (p.Leu4633Arg)
c.13883T>G (p.Leu4628Arg)
c.13880T>G (p.Leu4627Arg)
c.358T>G
c.13865T>G (p.Leu4622Arg)
c.13895T>G (p.Leu4632Arg)
c.13811T>G (p.Leu4604Arg)
19g.38572170T=CA2335088423RYR1c.834T=
c.2231T=
c.2203T=
c.13898T= (p.Leu4633=)
c.13883T= (p.Leu4628=)
c.13880T= (p.Leu4627=)
c.358T=
c.13865T= (p.Leu4622=)
c.13895T= (p.Leu4632=)
c.13811T= (p.Leu4604=)
19g.38572171G>ACA507356133RYR1c.835G>A
c.2232G>A
c.2204G>A
c.13899G>A (p.Leu4633=)
c.13884G>A (p.Leu4628=)
c.13881G>A (p.Leu4627=)
c.359G>A
c.13866G>A (p.Leu4622=)
c.13896G>A (p.Leu4632=)
c.13812G>A (p.Leu4604=)
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38572171G>CCA507356134RYR1c.835G>C
c.2232G>C
c.2204G>C
c.13899G>C (p.Leu4633=)
c.13884G>C (p.Leu4628=)
c.13881G>C (p.Leu4627=)
c.359G>C
c.13866G>C (p.Leu4622=)
c.13896G>C (p.Leu4632=)
c.13812G>C (p.Leu4604=)
19g.38572171G=CA2335088424RYR1c.835G=
c.2232G=
c.2204G=
c.13899G= (p.Leu4633=)
c.13884G= (p.Leu4628=)
c.13881G= (p.Leu4627=)
c.359G=
c.13866G= (p.Leu4622=)
c.13896G= (p.Leu4632=)
c.13812G= (p.Leu4604=)
19g.38572171G>TCA507356135RYR1c.835G>T
c.2232G>T
c.2204G>T
c.13899G>T (p.Leu4633=)
c.13884G>T (p.Leu4628=)
c.13881G>T (p.Leu4627=)
c.359G>T
c.13866G>T (p.Leu4622=)
c.13896G>T (p.Leu4632=)
c.13812G>T (p.Leu4604=)
19g.38572172G>ACA024076RYR1c.836G>A
c.2233G>A
c.2205G>A
c.13900G>A (p.Glu4634Lys)
c.13885G>A (p.Glu4629Lys)
c.13882G>A (p.Glu4628Lys)
c.360G>A
c.13867G>A (p.Glu4623Lys)
c.13897G>A (p.Glu4633Lys)
c.13813G>A (p.Glu4605Lys)
ClinVar dbSNP
19g.38572172G>CCA405680937RYR1c.836G>C
c.2233G>C
c.2205G>C
c.13900G>C (p.Glu4634Gln)
c.13885G>C (p.Glu4629Gln)
c.13882G>C (p.Glu4628Gln)
c.360G>C
c.13867G>C (p.Glu4623Gln)
c.13897G>C (p.Glu4633Gln)
c.13813G>C (p.Glu4605Gln)
19g.38572172G=CA2335088425RYR1c.836G=
c.2233G=
c.2205G=
c.13900G= (p.Glu4634=)
c.13885G= (p.Glu4629=)
c.13882G= (p.Glu4628=)
c.360G=
c.13867G= (p.Glu4623=)
c.13897G= (p.Glu4633=)
c.13813G= (p.Glu4605=)
19g.38572172G>TCA405680931RYR1c.836G>T
c.2233G>T
c.2205G>T
c.13900G>T (p.Glu4634Ter)
c.13885G>T (p.Glu4629Ter)
c.13882G>T (p.Glu4628Ter)
c.360G>T
c.13867G>T (p.Glu4623Ter)
c.13897G>T (p.Glu4633Ter)
c.13813G>T (p.Glu4605Ter)
ClinVar dbSNP
19g.38572173A=CA2335088426RYR1c.837A=
c.2234A=
c.2206A=
c.13901A= (p.Glu4634=)
c.13886A= (p.Glu4629=)
c.13883A= (p.Glu4628=)
c.361A=
c.13868A= (p.Glu4623=)
c.13898A= (p.Glu4633=)
c.13814A= (p.Glu4605=)
19g.38572173A>CCA405680945RYR1c.837A>C
c.2234A>C
c.2206A>C
c.13901A>C (p.Glu4634Ala)
c.13886A>C (p.Glu4629Ala)
c.13883A>C (p.Glu4628Ala)
c.361A>C
c.13868A>C (p.Glu4623Ala)
c.13898A>C (p.Glu4633Ala)
c.13814A>C (p.Glu4605Ala)
19g.38572173A>GCA405680946RYR1c.837A>G
c.2234A>G
c.2206A>G
c.13901A>G (p.Glu4634Gly)
c.13886A>G (p.Glu4629Gly)
c.13883A>G (p.Glu4628Gly)
c.361A>G
c.13868A>G (p.Glu4623Gly)
c.13898A>G (p.Glu4633Gly)
c.13814A>G (p.Glu4605Gly)
gnomAD v4
19g.38572173A>TCA060634RYR1c.837A>T
c.2234A>T
c.2206A>T
c.13901A>T (p.Glu4634Val)
c.13886A>T (p.Glu4629Val)
c.13883A>T (p.Glu4628Val)
c.361A>T
c.13868A>T (p.Glu4623Val)
c.13898A>T (p.Glu4633Val)
c.13814A>T (p.Glu4605Val)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.38572174G>ACA507356136RYR1c.838G>A
c.2235G>A
c.2207G>A
c.13902G>A (p.Glu4634=)
c.13887G>A (p.Glu4629=)
c.13884G>A (p.Glu4628=)
c.362G>A
c.13869G>A (p.Glu4623=)
c.13899G>A (p.Glu4633=)
c.13815G>A (p.Glu4605=)
19g.38572174G>CCA405680950RYR1c.838G>C
c.2235G>C
c.2207G>C
c.13902G>C (p.Glu4634Asp)
c.13887G>C (p.Glu4629Asp)
c.13884G>C (p.Glu4628Asp)
c.362G>C
c.13869G>C (p.Glu4623Asp)
c.13899G>C (p.Glu4633Asp)
c.13815G>C (p.Glu4605Asp)
19g.38572174G>TCA405680951RYR1c.838G>T
c.2235G>T
c.2207G>T
c.13902G>T (p.Glu4634Asp)
c.13887G>T (p.Glu4629Asp)
c.13884G>T (p.Glu4628Asp)
c.362G>T
c.13869G>T (p.Glu4623Asp)
c.13899G>T (p.Glu4633Asp)
c.13815G>T (p.Glu4605Asp)
19g.38572175G>ACA405680955RYR1c.839G>A
c.2236G>A
c.2208G>A
c.13903G>A (p.Glu4635Lys)
c.13888G>A (p.Glu4630Lys)
c.13885G>A (p.Glu4629Lys)
c.363G>A
c.13870G>A (p.Glu4624Lys)
c.13900G>A (p.Glu4634Lys)
c.13816G>A (p.Glu4606Lys)
ClinVar dbSNP COSMIC
19g.38572175G>CCA405680952RYR1c.839G>C
c.2236G>C
c.2208G>C
c.13903G>C (p.Glu4635Gln)
c.13888G>C (p.Glu4630Gln)
c.13885G>C (p.Glu4629Gln)
c.363G>C
c.13870G>C (p.Glu4624Gln)
c.13900G>C (p.Glu4634Gln)
c.13816G>C (p.Glu4606Gln)
19g.38572175G=CA2335088427RYR1c.839G=
c.2236G=
c.2208G=
c.13903G= (p.Glu4635=)
c.13888G= (p.Glu4630=)
c.13885G= (p.Glu4629=)
c.363G=
c.13870G= (p.Glu4624=)
c.13900G= (p.Glu4634=)
c.13816G= (p.Glu4606=)
19g.38572175G>TCA405680953RYR1c.839G>T
c.2236G>T
c.2208G>T
c.13903G>T (p.Glu4635Ter)
c.13888G>T (p.Glu4630Ter)
c.13885G>T (p.Glu4629Ter)
c.363G>T
c.13870G>T (p.Glu4624Ter)
c.13900G>T (p.Glu4634Ter)
c.13816G>T (p.Glu4606Ter)
19g.38572176A=CA2335088428RYR1c.840A=
c.2237A=
c.2209A=
c.13904A= (p.Glu4635=)
c.13889A= (p.Glu4630=)
c.13886A= (p.Glu4629=)
c.364A=
c.13871A= (p.Glu4624=)
c.13901A= (p.Glu4634=)
c.13817A= (p.Glu4606=)
19g.38572176A>CCA405680958RYR1c.840A>C
c.2237A>C
c.2209A>C
c.13904A>C (p.Glu4635Ala)
c.13889A>C (p.Glu4630Ala)
c.13886A>C (p.Glu4629Ala)
c.364A>C
c.13871A>C (p.Glu4624Ala)
c.13901A>C (p.Glu4634Ala)
c.13817A>C (p.Glu4606Ala)
19g.38572176A>GCA405680961RYR1c.840A>G
c.2237A>G
c.2209A>G
c.13904A>G (p.Glu4635Gly)
c.13889A>G (p.Glu4630Gly)
c.13886A>G (p.Glu4629Gly)
c.364A>G
c.13871A>G (p.Glu4624Gly)
c.13901A>G (p.Glu4634Gly)
c.13817A>G (p.Glu4606Gly)
ClinVar dbSNP
19g.38572176A>TCA081031RYR1c.840A>T
c.2237A>T
c.2209A>T
c.13904A>T (p.Glu4635Val)
c.13889A>T (p.Glu4630Val)
c.13886A>T (p.Glu4629Val)
c.364A>T
c.13871A>T (p.Glu4624Val)
c.13901A>T (p.Glu4634Val)
c.13817A>T (p.Glu4606Val)
COSMIC
19g.38572177A>CCA405680972RYR1c.841A>C
c.2238A>C
c.2210A>C
c.13905A>C (p.Glu4635Asp)
c.13890A>C (p.Glu4630Asp)
c.13887A>C (p.Glu4629Asp)
c.365A>C
c.13872A>C (p.Glu4624Asp)
c.13902A>C (p.Glu4634Asp)
c.13818A>C (p.Glu4606Asp)
19g.38572177A>GCA507356138RYR1c.841A>G
c.2238A>G
c.2210A>G
c.13905A>G (p.Glu4635=)
c.13890A>G (p.Glu4630=)
c.13887A>G (p.Glu4629=)
c.365A>G
c.13872A>G (p.Glu4624=)
c.13902A>G (p.Glu4634=)
c.13818A>G (p.Glu4606=)
dbSNP
19g.38572177A>TCA405680974RYR1c.841A>T
c.2238A>T
c.2210A>T
c.13905A>T (p.Glu4635Asp)
c.13890A>T (p.Glu4630Asp)
c.13887A>T (p.Glu4629Asp)
c.365A>T
c.13872A>T (p.Glu4624Asp)
c.13902A>T (p.Glu4634Asp)
c.13818A>T (p.Glu4606Asp)
19g.38572178A=CA2335088429RYR1c.842A=
c.2239A=
c.2211A=
c.13906A= (p.Ser4636=)
c.13891A= (p.Ser4631=)
c.13888A= (p.Ser4630=)
c.366A=
c.13873A= (p.Ser4625=)
c.13903A= (p.Ser4635=)
c.13819A= (p.Ser4607=)
19g.38572178A>CCA405680980RYR1c.842A>C
c.2239A>C
c.2211A>C
c.13906A>C (p.Ser4636Arg)
c.13891A>C (p.Ser4631Arg)
c.13888A>C (p.Ser4630Arg)
c.366A>C
c.13873A>C (p.Ser4625Arg)
c.13903A>C (p.Ser4635Arg)
c.13819A>C (p.Ser4607Arg)
19g.38572178A>GCA060639RYR1c.842A>G
c.2239A>G
c.2211A>G
c.13906A>G (p.Ser4636Gly)
c.13891A>G (p.Ser4631Gly)
c.13888A>G (p.Ser4630Gly)
c.366A>G
c.13873A>G (p.Ser4625Gly)
c.13903A>G (p.Ser4635Gly)
c.13819A>G (p.Ser4607Gly)
ClinVar dbSNP ExAC gnomAD v2
19g.38572178A>TCA405680985RYR1c.842A>T
c.2239A>T
c.2211A>T
c.13906A>T (p.Ser4636Cys)
c.13891A>T (p.Ser4631Cys)
c.13888A>T (p.Ser4630Cys)
c.366A>T
c.13873A>T (p.Ser4625Cys)
c.13903A>T (p.Ser4635Cys)
c.13819A>T (p.Ser4607Cys)
19g.38572179G>ACA308114119RYR1c.843G>A
c.2240G>A
c.2212G>A
c.13907G>A (p.Ser4636Asn)
c.13892G>A (p.Ser4631Asn)
c.13889G>A (p.Ser4630Asn)
c.367G>A
c.13874G>A (p.Ser4625Asn)
c.13904G>A (p.Ser4635Asn)
c.13820G>A (p.Ser4607Asn)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38572179G>CCA405680996RYR1c.843G>C
c.2240G>C
c.2212G>C
c.13907G>C (p.Ser4636Thr)
c.13892G>C (p.Ser4631Thr)
c.13889G>C (p.Ser4630Thr)
c.367G>C
c.13874G>C (p.Ser4625Thr)
c.13904G>C (p.Ser4635Thr)
c.13820G>C (p.Ser4607Thr)
19g.38572179G=CA2335088430RYR1c.843G=
c.2240G=
c.2212G=
c.13907G= (p.Ser4636=)
c.13892G= (p.Ser4631=)
c.13889G= (p.Ser4630=)
c.367G=
c.13874G= (p.Ser4625=)
c.13904G= (p.Ser4635=)
c.13820G= (p.Ser4607=)
19g.38572179G>TCA405680993RYR1c.843G>T
c.2240G>T
c.2212G>T
c.13907G>T (p.Ser4636Ile)
c.13892G>T (p.Ser4631Ile)
c.13889G>T (p.Ser4630Ile)
c.367G>T
c.13874G>T (p.Ser4625Ile)
c.13904G>T (p.Ser4635Ile)
c.13820G>T (p.Ser4607Ile)
19g.38572180C>ACA405680999RYR1c.844C>A
c.2241C>A
c.2213C>A
c.13908C>A (p.Ser4636Arg)
c.13893C>A (p.Ser4631Arg)
c.13890C>A (p.Ser4630Arg)
c.368C>A
c.13875C>A (p.Ser4625Arg)
c.13905C>A (p.Ser4635Arg)
c.13821C>A (p.Ser4607Arg)
19g.38572180C>GCA405681001RYR1c.844C>G
c.2241C>G
c.2213C>G
c.13908C>G (p.Ser4636Arg)
c.13893C>G (p.Ser4631Arg)
c.13890C>G (p.Ser4630Arg)
c.368C>G
c.13875C>G (p.Ser4625Arg)
c.13905C>G (p.Ser4635Arg)
c.13821C>G (p.Ser4607Arg)
19g.38572180C>TCA507356140RYR1c.844C>T
c.2241C>T
c.2213C>T
c.13908C>T (p.Ser4636=)
c.13893C>T (p.Ser4631=)
c.13890C>T (p.Ser4630=)
c.368C>T
c.13875C>T (p.Ser4625=)
c.13905C>T (p.Ser4635=)
c.13821C>T (p.Ser4607=)
19g.38572181A=CA2335088431RYR1c.845A=
c.2242A=
c.2214A=
c.13909A= (p.Thr4637=)
c.13894A= (p.Thr4632=)
c.13891A= (p.Thr4631=)
c.369A=
c.13876A= (p.Thr4626=)
c.13906A= (p.Thr4636=)
c.13822A= (p.Thr4608=)
19g.38572181A>CCA405681005RYR1c.845A>C
c.2242A>C
c.2214A>C
c.13909A>C (p.Thr4637Pro)
c.13894A>C (p.Thr4632Pro)
c.13891A>C (p.Thr4631Pro)
c.369A>C
c.13876A>C (p.Thr4626Pro)
c.13906A>C (p.Thr4636Pro)
c.13822A>C (p.Thr4608Pro)
ClinVar
19g.38572181A>GCA024078RYR1c.845A>G
c.2242A>G
c.2214A>G
c.13909A>G (p.Thr4637Ala)
c.13894A>G (p.Thr4632Ala)
c.13891A>G (p.Thr4631Ala)
c.369A>G
c.13876A>G (p.Thr4626Ala)
c.13906A>G (p.Thr4636Ala)
c.13822A>G (p.Thr4608Ala)
ClinVar dbSNP
19g.38572181A>TCA405681013RYR1c.845A>T
c.2242A>T
c.2214A>T
c.13909A>T (p.Thr4637Ser)
c.13894A>T (p.Thr4632Ser)
c.13891A>T (p.Thr4631Ser)
c.369A>T
c.13876A>T (p.Thr4626Ser)
c.13906A>T (p.Thr4636Ser)
c.13822A>T (p.Thr4608Ser)
19g.38572182C>ACA405681016RYR1c.846C>A
c.2243C>A
c.2215C>A
c.13910C>A (p.Thr4637Lys)
c.13895C>A (p.Thr4632Lys)
c.13892C>A (p.Thr4631Lys)
c.370C>A
c.13877C>A (p.Thr4626Lys)
c.13907C>A (p.Thr4636Lys)
c.13823C>A (p.Thr4608Lys)
19g.38572182C=CA2335088432RYR1c.846C=
c.2243C=
c.2215C=
c.13910C= (p.Thr4637=)
c.13895C= (p.Thr4632=)
c.13892C= (p.Thr4631=)
c.370C=
c.13877C= (p.Thr4626=)
c.13907C= (p.Thr4636=)
c.13823C= (p.Thr4608=)
19g.38572182C>GCA405681019RYR1c.846C>G
c.2243C>G
c.2215C>G
c.13910C>G (p.Thr4637Arg)
c.13895C>G (p.Thr4632Arg)
c.13892C>G (p.Thr4631Arg)
c.370C>G
c.13877C>G (p.Thr4626Arg)
c.13907C>G (p.Thr4636Arg)
c.13823C>G (p.Thr4608Arg)
19g.38572182C>TCA024080RYR1c.846C>T
c.2243C>T
c.2215C>T
c.13910C>T (p.Thr4637Ile)
c.13895C>T (p.Thr4632Ile)
c.13892C>T (p.Thr4631Ile)
c.370C>T
c.13877C>T (p.Thr4626Ile)
c.13907C>T (p.Thr4636Ile)
c.13823C>T (p.Thr4608Ile)
ClinVar dbSNP
19g.38572183A>CCA507356142RYR1c.847A>C
c.2244A>C
c.2216A>C
c.13911A>C (p.Thr4637=)
c.13896A>C (p.Thr4632=)
c.13893A>C (p.Thr4631=)
c.371A>C
c.13878A>C (p.Thr4626=)
c.13908A>C (p.Thr4636=)
c.13824A>C (p.Thr4608=)
19g.38572183A>GCA507356143RYR1c.847A>G
c.2244A>G
c.2216A>G
c.13911A>G (p.Thr4637=)
c.13896A>G (p.Thr4632=)
c.13893A>G (p.Thr4631=)
c.371A>G
c.13878A>G (p.Thr4626=)
c.13908A>G (p.Thr4636=)
c.13824A>G (p.Thr4608=)
dbSNP
19g.38572183A>TCA507356144RYR1c.847A>T
c.2244A>T
c.2216A>T
c.13911A>T (p.Thr4637=)
c.13896A>T (p.Thr4632=)
c.13893A>T (p.Thr4631=)
c.371A>T
c.13878A>T (p.Thr4626=)
c.13908A>T (p.Thr4636=)
c.13824A>T (p.Thr4608=)
19g.38572184G>ACA024082RYR1c.848G>A
c.2245G>A
c.2217G>A
c.13912G>A (p.Gly4638Ser)
c.13897G>A (p.Gly4633Ser)
c.13894G>A (p.Gly4632Ser)
c.372G>A
c.13879G>A (p.Gly4627Ser)
c.13909G>A (p.Gly4637Ser)
c.13825G>A (p.Gly4609Ser)
ClinVar dbSNP
19g.38572184G>CCA405681030RYR1c.848G>C
c.2245G>C
c.2217G>C
c.13912G>C (p.Gly4638Arg)
c.13897G>C (p.Gly4633Arg)
c.13894G>C (p.Gly4632Arg)
c.372G>C
c.13879G>C (p.Gly4627Arg)
c.13909G>C (p.Gly4637Arg)
c.13825G>C (p.Gly4609Arg)
19g.38572184G=CA2335088433RYR1c.848G=
c.2245G=
c.2217G=
c.13912G= (p.Gly4638=)
c.13897G= (p.Gly4633=)
c.13894G= (p.Gly4632=)
c.372G=
c.13879G= (p.Gly4627=)
c.13909G= (p.Gly4637=)
c.13825G= (p.Gly4609=)
19g.38572184G>TCA405681034RYR1c.848G>T
c.2245G>T
c.2217G>T
c.13912G>T (p.Gly4638Cys)
c.13897G>T (p.Gly4633Cys)
c.13894G>T (p.Gly4632Cys)
c.372G>T
c.13879G>T (p.Gly4627Cys)
c.13909G>T (p.Gly4637Cys)
c.13825G>T (p.Gly4609Cys)
19g.38572185G>ACA024084RYR1c.849G>A
c.2246G>A
c.2218G>A
c.13913G>A (p.Gly4638Asp)
c.13898G>A (p.Gly4633Asp)
c.13895G>A (p.Gly4632Asp)
c.373G>A
c.13880G>A (p.Gly4627Asp)
c.13910G>A (p.Gly4637Asp)
c.13826G>A (p.Gly4609Asp)
ClinVar dbSNP gnomAD v4
19g.38572185G>CCA405681038RYR1c.849G>C
c.2246G>C
c.2218G>C
c.13913G>C (p.Gly4638Ala)
c.13898G>C (p.Gly4633Ala)
c.13895G>C (p.Gly4632Ala)
c.373G>C
c.13880G>C (p.Gly4627Ala)
c.13910G>C (p.Gly4637Ala)
c.13826G>C (p.Gly4609Ala)
19g.38572185G=CA2335088434RYR1c.849G=
c.2246G=
c.2218G=
c.13913G= (p.Gly4638=)
c.13898G= (p.Gly4633=)
c.13895G= (p.Gly4632=)
c.373G=
c.13880G= (p.Gly4627=)
c.13910G= (p.Gly4637=)
c.13826G= (p.Gly4609=)
19g.38572185G>TCA405681040RYR1c.849G>T
c.2246G>T
c.2218G>T
c.13913G>T (p.Gly4638Val)
c.13898G>T (p.Gly4633Val)
c.13895G>T (p.Gly4632Val)
c.373G>T
c.13880G>T (p.Gly4627Val)
c.13910G>T (p.Gly4637Val)
c.13826G>T (p.Gly4609Val)
19g.38572186C>ACA507356148RYR1c.850C>A
c.2247C>A
c.2219C>A
c.13914C>A (p.Gly4638=)
c.13899C>A (p.Gly4633=)
c.13896C>A (p.Gly4632=)
c.374C>A
c.13881C>A (p.Gly4627=)
c.13911C>A (p.Gly4637=)
c.13827C>A (p.Gly4609=)
19g.38572186C>GCA507356146RYR1c.850C>G
c.2247C>G
c.2219C>G
c.13914C>G (p.Gly4638=)
c.13899C>G (p.Gly4633=)
c.13896C>G (p.Gly4632=)
c.374C>G
c.13881C>G (p.Gly4627=)
c.13911C>G (p.Gly4637=)
c.13827C>G (p.Gly4609=)
COSMIC
19g.38572186C>TCA507356145RYR1c.850C>T
c.2247C>T
c.2219C>T
c.13914C>T (p.Gly4638=)
c.13899C>T (p.Gly4633=)
c.13896C>T (p.Gly4632=)
c.374C>T
c.13881C>T (p.Gly4627=)
c.13911C>T (p.Gly4637=)
c.13827C>T (p.Gly4609=)
19g.38572187T>ACA405681043RYR1c.851T>A
c.2248T>A
c.2220T>A
c.13915T>A (p.Tyr4639Asn)
c.13900T>A (p.Tyr4634Asn)
c.13897T>A (p.Tyr4633Asn)
c.375T>A
c.13882T>A (p.Tyr4628Asn)
c.13912T>A (p.Tyr4638Asn)
c.13828T>A (p.Tyr4610Asn)
19g.38572187T>CCA405681046RYR1c.851T>C
c.2248T>C
c.2220T>C
c.13915T>C (p.Tyr4639His)
c.13900T>C (p.Tyr4634His)
c.13897T>C (p.Tyr4633His)
c.375T>C
c.13882T>C (p.Tyr4628His)
c.13912T>C (p.Tyr4638His)
c.13828T>C (p.Tyr4610His)
19g.38572187T>GCA405681051RYR1c.851T>G
c.2248T>G
c.2220T>G
c.13915T>G (p.Tyr4639Asp)
c.13900T>G (p.Tyr4634Asp)
c.13897T>G (p.Tyr4633Asp)
c.375T>G
c.13882T>G (p.Tyr4628Asp)
c.13912T>G (p.Tyr4638Asp)
c.13828T>G (p.Tyr4610Asp)
19g.38572188A>CCA405681057RYR1c.852A>C
c.2249A>C
c.2221A>C
c.13916A>C (p.Tyr4639Ser)
c.13901A>C (p.Tyr4634Ser)
c.13898A>C (p.Tyr4633Ser)
c.376A>C
c.13883A>C (p.Tyr4628Ser)
c.13913A>C (p.Tyr4638Ser)
c.13829A>C (p.Tyr4610Ser)
19g.38572188A>GCA405681059RYR1c.852A>G
c.2249A>G
c.2221A>G
c.13916A>G (p.Tyr4639Cys)
c.13901A>G (p.Tyr4634Cys)
c.13898A>G (p.Tyr4633Cys)
c.376A>G
c.13883A>G (p.Tyr4628Cys)
c.13913A>G (p.Tyr4638Cys)
c.13829A>G (p.Tyr4610Cys)
19g.38572188A>TCA405681063RYR1c.852A>T
c.2249A>T
c.2221A>T
c.13916A>T (p.Tyr4639Phe)
c.13901A>T (p.Tyr4634Phe)
c.13898A>T (p.Tyr4633Phe)
c.376A>T
c.13883A>T (p.Tyr4628Phe)
c.13913A>T (p.Tyr4638Phe)
c.13829A>T (p.Tyr4610Phe)
19g.38572189C>ACA405681065RYR1c.853C>A
c.2250C>A
c.2222C>A
c.13917C>A (p.Tyr4639Ter)
c.13902C>A (p.Tyr4634Ter)
c.13899C>A (p.Tyr4633Ter)
c.377C>A
c.13884C>A (p.Tyr4628Ter)
c.13914C>A (p.Tyr4638Ter)
c.13830C>A (p.Tyr4610Ter)
19g.38572189C>GCA405681066RYR1c.853C>G
c.2250C>G
c.2222C>G
c.13917C>G (p.Tyr4639Ter)
c.13902C>G (p.Tyr4634Ter)
c.13899C>G (p.Tyr4633Ter)
c.377C>G
c.13884C>G (p.Tyr4628Ter)
c.13914C>G (p.Tyr4638Ter)
c.13830C>G (p.Tyr4610Ter)
19g.38572189C>TCA507356150RYR1c.853C>T
c.2250C>T
c.2222C>T
c.13917C>T (p.Tyr4639=)
c.13902C>T (p.Tyr4634=)
c.13899C>T (p.Tyr4633=)
c.377C>T
c.13884C>T (p.Tyr4628=)
c.13914C>T (p.Tyr4638=)
c.13830C>T (p.Tyr4610=)
gnomAD v4
19g.38572190A=CA2335088435RYR1c.854A=
c.2251A=
c.2223A=
c.13918A= (p.Met4640=)
c.13903A= (p.Met4635=)
c.13900A= (p.Met4634=)
c.378A=
c.13885A= (p.Met4629=)
c.13915A= (p.Met4639=)
c.13831A= (p.Met4611=)
19g.38572190A>CCA405681071RYR1c.854A>C
c.2251A>C
c.2223A>C
c.13918A>C (p.Met4640Leu)
c.13903A>C (p.Met4635Leu)
c.13900A>C (p.Met4634Leu)
c.378A>C
c.13885A>C (p.Met4629Leu)
c.13915A>C (p.Met4639Leu)
c.13831A>C (p.Met4611Leu)
gnomAD v4
19g.38572190A>GCA060644RYR1c.854A>G
c.2251A>G
c.2223A>G
c.13918A>G (p.Met4640Val)
c.13903A>G (p.Met4635Val)
c.13900A>G (p.Met4634Val)
c.378A>G
c.13885A>G (p.Met4629Val)
c.13915A>G (p.Met4639Val)
c.13831A>G (p.Met4611Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38572190A>TCA405681076RYR1c.854A>T
c.2251A>T
c.2223A>T
c.13918A>T (p.Met4640Leu)
c.13903A>T (p.Met4635Leu)
c.13900A>T (p.Met4634Leu)
c.378A>T
c.13885A>T (p.Met4629Leu)
c.13915A>T (p.Met4639Leu)
c.13831A>T (p.Met4611Leu)
ClinVar dbSNP
19g.38572191T>ACA405681082RYR1c.855T>A
c.2252T>A
c.2224T>A
c.13919T>A (p.Met4640Lys)
c.13904T>A (p.Met4635Lys)
c.13901T>A (p.Met4634Lys)
c.379T>A
c.13886T>A (p.Met4629Lys)
c.13916T>A (p.Met4639Lys)
c.13832T>A (p.Met4611Lys)
19g.38572191T>CCA405681084RYR1c.855T>C
c.2252T>C
c.2224T>C
c.13919T>C (p.Met4640Thr)
c.13904T>C (p.Met4635Thr)
c.13901T>C (p.Met4634Thr)
c.379T>C
c.13886T>C (p.Met4629Thr)
c.13916T>C (p.Met4639Thr)
c.13832T>C (p.Met4611Thr)
19g.38572191T>GCA405681080RYR1c.855T>G
c.2252T>G
c.2224T>G
c.13919T>G (p.Met4640Arg)
c.13904T>G (p.Met4635Arg)
c.13901T>G (p.Met4634Arg)
c.379T>G
c.13886T>G (p.Met4629Arg)
c.13916T>G (p.Met4639Arg)
c.13832T>G (p.Met4611Arg)
ClinVar dbSNP
19g.38572191T=CA2335088436RYR1c.855T=
c.2252T=
c.2224T=
c.13919T= (p.Met4640=)
c.13904T= (p.Met4635=)
c.13901T= (p.Met4634=)
c.379T=
c.13886T= (p.Met4629=)
c.13916T= (p.Met4639=)
c.13832T= (p.Met4611=)
19g.38572192G>ACA405681090RYR1c.856G>A
c.2253G>A
c.2225G>A
c.13920G>A (p.Met4640Ile)
c.13905G>A (p.Met4635Ile)
c.13902G>A (p.Met4634Ile)
c.380G>A
c.13887G>A (p.Met4629Ile)
c.13917G>A (p.Met4639Ile)
c.13833G>A (p.Met4611Ile)
ClinVar dbSNP
19g.38572192G>CCA405681094RYR1c.856G>C
c.2253G>C
c.2225G>C
c.13920G>C (p.Met4640Ile)
c.13905G>C (p.Met4635Ile)
c.13902G>C (p.Met4634Ile)
c.380G>C
c.13887G>C (p.Met4629Ile)
c.13917G>C (p.Met4639Ile)
c.13833G>C (p.Met4611Ile)
19g.38572192G=CA2335088437RYR1c.856G=
c.2253G=
c.2225G=
c.13920G= (p.Met4640=)
c.13905G= (p.Met4635=)
c.13902G= (p.Met4634=)
c.380G=
c.13887G= (p.Met4629=)
c.13917G= (p.Met4639=)
c.13833G= (p.Met4611=)
19g.38572192G>TCA405681109RYR1c.856G>T
c.2253G>T
c.2225G>T
c.13920G>T (p.Met4640Ile)
c.13905G>T (p.Met4635Ile)
c.13902G>T (p.Met4634Ile)
c.380G>T
c.13887G>T (p.Met4629Ile)
c.13917G>T (p.Met4639Ile)
c.13833G>T (p.Met4611Ile)
19g.38572193G>ACA405681114RYR1c.857G>A
c.2254G>A
c.2226G>A
c.13921G>A (p.Glu4641Lys)
c.13906G>A (p.Glu4636Lys)
c.13903G>A (p.Glu4635Lys)
c.381G>A
c.13888G>A (p.Glu4630Lys)
c.13918G>A (p.Glu4640Lys)
c.13834G>A (p.Glu4612Lys)
19g.38572193G>CCA405681117RYR1c.857G>C
c.2254G>C
c.2226G>C
c.13921G>C (p.Glu4641Gln)
c.13906G>C (p.Glu4636Gln)
c.13903G>C (p.Glu4635Gln)
c.381G>C
c.13888G>C (p.Glu4630Gln)
c.13918G>C (p.Glu4640Gln)
c.13834G>C (p.Glu4612Gln)
19g.38572193G>TCA405681119RYR1c.857G>T
c.2254G>T
c.2226G>T
c.13921G>T (p.Glu4641Ter)
c.13906G>T (p.Glu4636Ter)
c.13903G>T (p.Glu4635Ter)
c.381G>T
c.13888G>T (p.Glu4630Ter)
c.13918G>T (p.Glu4640Ter)
c.13834G>T (p.Glu4612Ter)
19g.38572194A=CA2335088438RYR1c.858A=
c.2255A=
c.2227A=
c.13922A= (p.Glu4641=)
c.13907A= (p.Glu4636=)
c.13904A= (p.Glu4635=)
c.382A=
c.13889A= (p.Glu4630=)
c.13919A= (p.Glu4640=)
c.13835A= (p.Glu4612=)
19g.38572194A>CCA405681140RYR1c.858A>C
c.2255A>C
c.2227A>C
c.13922A>C (p.Glu4641Ala)
c.13907A>C (p.Glu4636Ala)
c.13904A>C (p.Glu4635Ala)
c.382A>C
c.13889A>C (p.Glu4630Ala)
c.13919A>C (p.Glu4640Ala)
c.13835A>C (p.Glu4612Ala)
19g.38572194A>GCA405681124RYR1c.858A>G
c.2255A>G
c.2227A>G
c.13922A>G (p.Glu4641Gly)
c.13907A>G (p.Glu4636Gly)
c.13904A>G (p.Glu4635Gly)
c.382A>G
c.13889A>G (p.Glu4630Gly)
c.13919A>G (p.Glu4640Gly)
c.13835A>G (p.Glu4612Gly)
dbSNP gnomAD v3 gnomAD v4
19g.38572194A>TCA405681134RYR1c.858A>T
c.2255A>T
c.2227A>T
c.13922A>T (p.Glu4641Val)
c.13907A>T (p.Glu4636Val)
c.13904A>T (p.Glu4635Val)
c.382A>T
c.13889A>T (p.Glu4630Val)
c.13919A>T (p.Glu4640Val)
c.13835A>T (p.Glu4612Val)
19g.38572195A>CCA405681142RYR1c.859A>C
c.2256A>C
c.2228A>C
c.13923A>C (p.Glu4641Asp)
c.13908A>C (p.Glu4636Asp)
c.13905A>C (p.Glu4635Asp)
c.383A>C
c.13890A>C (p.Glu4630Asp)
c.13920A>C (p.Glu4640Asp)
c.13836A>C (p.Glu4612Asp)
19g.38572195A>GCA507356154RYR1c.859A>G
c.2256A>G
c.2228A>G
c.13923A>G (p.Glu4641=)
c.13908A>G (p.Glu4636=)
c.13905A>G (p.Glu4635=)
c.383A>G
c.13890A>G (p.Glu4630=)
c.13920A>G (p.Glu4640=)
c.13836A>G (p.Glu4612=)
dbSNP
19g.38572195A>TCA405681144RYR1c.859A>T
c.2256A>T
c.2228A>T
c.13923A>T (p.Glu4641Asp)
c.13908A>T (p.Glu4636Asp)
c.13905A>T (p.Glu4635Asp)
c.383A>T
c.13890A>T (p.Glu4630Asp)
c.13920A>T (p.Glu4640Asp)
c.13836A>T (p.Glu4612Asp)
19g.38572196C>ACA405681147RYR1c.860C>A
c.2257C>A
c.2229C>A
c.13924C>A (p.Pro4642Thr)
c.13909C>A (p.Pro4637Thr)
c.13906C>A (p.Pro4636Thr)
c.384C>A
c.13891C>A (p.Pro4631Thr)
c.13921C>A (p.Pro4641Thr)
c.13837C>A (p.Pro4613Thr)
19g.38572196C=CA2335088439RYR1c.860C=
c.2257C=
c.2229C=
c.13924C= (p.Pro4642=)
c.13909C= (p.Pro4637=)
c.13906C= (p.Pro4636=)
c.384C=
c.13891C= (p.Pro4631=)
c.13921C= (p.Pro4641=)
c.13837C= (p.Pro4613=)
19g.38572196C>GCA060649RYR1c.860C>G
c.2257C>G
c.2229C>G
c.13924C>G (p.Pro4642Ala)
c.13909C>G (p.Pro4637Ala)
c.13906C>G (p.Pro4636Ala)
c.384C>G
c.13891C>G (p.Pro4631Ala)
c.13921C>G (p.Pro4641Ala)
c.13837C>G (p.Pro4613Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38572196C>TCA405681153RYR1c.860C>T
c.2257C>T
c.2229C>T
c.13924C>T (p.Pro4642Ser)
c.13909C>T (p.Pro4637Ser)
c.13906C>T (p.Pro4636Ser)
c.384C>T
c.13891C>T (p.Pro4631Ser)
c.13921C>T (p.Pro4641Ser)
c.13837C>T (p.Pro4613Ser)
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38572197C>ACA405681157RYR1c.861C>A
c.2258C>A
c.2230C>A
c.13925C>A (p.Pro4642His)
c.13910C>A (p.Pro4637His)
c.13907C>A (p.Pro4636His)
c.385C>A
c.13892C>A (p.Pro4631His)
c.13922C>A (p.Pro4641His)
c.13838C>A (p.Pro4613His)
19g.38572197C>GCA405681163RYR1c.861C>G
c.2258C>G
c.2230C>G
c.13925C>G (p.Pro4642Arg)
c.13910C>G (p.Pro4637Arg)
c.13907C>G (p.Pro4636Arg)
c.385C>G
c.13892C>G (p.Pro4631Arg)
c.13922C>G (p.Pro4641Arg)
c.13838C>G (p.Pro4613Arg)
ClinVar
19g.38572197C>TCA405681161RYR1c.861C>T
c.2258C>T
c.2230C>T
c.13925C>T (p.Pro4642Leu)
c.13910C>T (p.Pro4637Leu)
c.13907C>T (p.Pro4636Leu)
c.385C>T
c.13892C>T (p.Pro4631Leu)
c.13922C>T (p.Pro4641Leu)
c.13838C>T (p.Pro4613Leu)
ClinVar dbSNP gnomAD v4
19g.38572198C>ACA507356157RYR1c.862C>A
c.2259C>A
c.2231C>A
c.13926C>A (p.Pro4642=)
c.13911C>A (p.Pro4637=)
c.13908C>A (p.Pro4636=)
c.386C>A
c.13893C>A (p.Pro4631=)
c.13923C>A (p.Pro4641=)
c.13839C>A (p.Pro4613=)
19g.38572198C=CA2335088440RYR1c.862C=
c.2259C=
c.2231C=
c.13926C= (p.Pro4642=)
c.13911C= (p.Pro4637=)
c.13908C= (p.Pro4636=)
c.386C=
c.13893C= (p.Pro4631=)
c.13923C= (p.Pro4641=)
c.13839C= (p.Pro4613=)
19g.38572198C>GCA507356159RYR1c.862C>G
c.2259C>G
c.2231C>G
c.13926C>G (p.Pro4642=)
c.13911C>G (p.Pro4637=)
c.13908C>G (p.Pro4636=)
c.386C>G
c.13893C>G (p.Pro4631=)
c.13923C>G (p.Pro4641=)
c.13839C>G (p.Pro4613=)
19g.38572198C>TCA060654RYR1c.862C>T
c.2259C>T
c.2231C>T
c.13926C>T (p.Pro4642=)
c.13911C>T (p.Pro4637=)
c.13908C>T (p.Pro4636=)
c.386C>T
c.13893C>T (p.Pro4631=)
c.13923C>T (p.Pro4641=)
c.13839C>T (p.Pro4613=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38572199G>ACA060657RYR1c.863G>A
c.2260G>A
c.2232G>A
c.13927G>A (p.Ala4643Thr)
c.13912G>A (p.Ala4638Thr)
c.13909G>A (p.Ala4637Thr)
c.387G>A
c.13894G>A (p.Ala4632Thr)
c.13924G>A (p.Ala4642Thr)
c.13840G>A (p.Ala4614Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38572199G>CCA405681167RYR1c.863G>C
c.2260G>C
c.2232G>C
c.13927G>C (p.Ala4643Pro)
c.13912G>C (p.Ala4638Pro)
c.13909G>C (p.Ala4637Pro)
c.387G>C
c.13894G>C (p.Ala4632Pro)
c.13924G>C (p.Ala4642Pro)
c.13840G>C (p.Ala4614Pro)
19g.38572199G=CA2335088441RYR1c.863G=
c.2260G=
c.2232G=
c.13927G= (p.Ala4643=)
c.13912G= (p.Ala4638=)
c.13909G= (p.Ala4637=)
c.387G=
c.13894G= (p.Ala4632=)
c.13924G= (p.Ala4642=)
c.13840G= (p.Ala4614=)
19g.38572199G>TCA405681169RYR1c.863G>T
c.2260G>T
c.2232G>T
c.13927G>T (p.Ala4643Ser)
c.13912G>T (p.Ala4638Ser)
c.13909G>T (p.Ala4637Ser)
c.387G>T
c.13894G>T (p.Ala4632Ser)
c.13924G>T (p.Ala4642Ser)
c.13840G>T (p.Ala4614Ser)
ClinVar
19g.38572200C>ACA405681170RYR1c.864C>A
c.2261C>A
c.2233C>A
c.13928C>A (p.Ala4643Asp)
c.13913C>A (p.Ala4638Asp)
c.13910C>A (p.Ala4637Asp)
c.388C>A
c.13895C>A (p.Ala4632Asp)
c.13925C>A (p.Ala4642Asp)
c.13841C>A (p.Ala4614Asp)
19g.38572200C>GCA405681171RYR1c.864C>G
c.2261C>G
c.2233C>G
c.13928C>G (p.Ala4643Gly)
c.13913C>G (p.Ala4638Gly)
c.13910C>G (p.Ala4637Gly)
c.388C>G
c.13895C>G (p.Ala4632Gly)
c.13925C>G (p.Ala4642Gly)
c.13841C>G (p.Ala4614Gly)
19g.38572200C>TCA405681172RYR1c.864C>T
c.2261C>T
c.2233C>T
c.13928C>T (p.Ala4643Val)
c.13913C>T (p.Ala4638Val)
c.13910C>T (p.Ala4637Val)
c.388C>T
c.13895C>T (p.Ala4632Val)
c.13925C>T (p.Ala4642Val)
c.13841C>T (p.Ala4614Val)
ClinVar
19g.38572201C>ACA507356162RYR1c.865C>A
c.2262C>A
c.2234C>A
c.13929C>A (p.Ala4643=)
c.13914C>A (p.Ala4638=)
c.13911C>A (p.Ala4637=)
c.389C>A
c.13896C>A (p.Ala4632=)
c.13926C>A (p.Ala4642=)
c.13842C>A (p.Ala4614=)
19g.38572201C>GCA507356163RYR1c.865C>G
c.2262C>G
c.2234C>G
c.13929C>G (p.Ala4643=)
c.13914C>G (p.Ala4638=)
c.13911C>G (p.Ala4637=)
c.389C>G
c.13896C>G (p.Ala4632=)
c.13926C>G (p.Ala4642=)
c.13842C>G (p.Ala4614=)
19g.38572201C>TCA081034RYR1c.865C>T
c.2262C>T
c.2234C>T
c.13929C>T (p.Ala4643=)
c.13914C>T (p.Ala4638=)
c.13911C>T (p.Ala4637=)
c.389C>T
c.13896C>T (p.Ala4632=)
c.13926C>T (p.Ala4642=)
c.13842C>T (p.Ala4614=)
19g.38572202C>ACA405681175RYR1c.866C>A
c.2263C>A
c.2235C>A
c.13930C>A (p.Leu4644Met)
c.13915C>A (p.Leu4639Met)
c.13912C>A (p.Leu4638Met)
c.390C>A
c.13897C>A (p.Leu4633Met)
c.13927C>A (p.Leu4643Met)
c.13843C>A (p.Leu4615Met)
ClinVar
19g.38572202C=CA2335088442RYR1c.866C=
c.2263C=
c.2235C=
c.13930C= (p.Leu4644=)
c.13915C= (p.Leu4639=)
c.13912C= (p.Leu4638=)
c.390C=
c.13897C= (p.Leu4633=)
c.13927C= (p.Leu4643=)
c.13843C= (p.Leu4615=)
19g.38572202C>GCA405681177RYR1c.866C>G
c.2263C>G
c.2235C>G
c.13930C>G (p.Leu4644Val)
c.13915C>G (p.Leu4639Val)
c.13912C>G (p.Leu4638Val)
c.390C>G
c.13897C>G (p.Leu4633Val)
c.13927C>G (p.Leu4643Val)
c.13843C>G (p.Leu4615Val)
19g.38572202C>TCA507356164RYR1c.866C>T
c.2263C>T
c.2235C>T
c.13930C>T (p.Leu4644=)
c.13915C>T (p.Leu4639=)
c.13912C>T (p.Leu4638=)
c.390C>T
c.13897C>T (p.Leu4633=)
c.13927C>T (p.Leu4643=)
c.13843C>T (p.Leu4615=)
ClinVar dbSNP
19g.38572203delCA2584910040RYR1c.867del
c.2264del
c.2236del
c.13931del (p.Leu4644ArgfsTer4)
c.13916del (p.Leu4639ArgfsTer4)
c.13913del (p.Leu4638ArgfsTer4)
c.391del
c.13898del (p.Leu4633ArgfsTer4)
c.13928del (p.Leu4643ArgfsTer4)
c.13844del (p.Leu4615ArgfsTer4)
gnomAD v4
19g.38572203T>ACA405681180RYR1c.867T>A
c.2264T>A
c.2236T>A
c.13931T>A (p.Leu4644Gln)
c.13916T>A (p.Leu4639Gln)
c.13913T>A (p.Leu4638Gln)
c.391T>A
c.13898T>A (p.Leu4633Gln)
c.13928T>A (p.Leu4643Gln)
c.13844T>A (p.Leu4615Gln)
19g.38572203T>CCA405681183RYR1c.867T>C
c.2264T>C
c.2236T>C
c.13931T>C (p.Leu4644Pro)
c.13916T>C (p.Leu4639Pro)
c.13913T>C (p.Leu4638Pro)
c.391T>C
c.13898T>C (p.Leu4633Pro)
c.13928T>C (p.Leu4643Pro)
c.13844T>C (p.Leu4615Pro)
ClinVar dbSNP
19g.38572203T>GCA405681186RYR1c.867T>G
c.2264T>G
c.2236T>G
c.13931T>G (p.Leu4644Arg)
c.13916T>G (p.Leu4639Arg)
c.13913T>G (p.Leu4638Arg)
c.391T>G
c.13898T>G (p.Leu4633Arg)
c.13928T>G (p.Leu4643Arg)
c.13844T>G (p.Leu4615Arg)
COSMIC
19g.38572203T=CA2335088443RYR1c.867T=
c.2264T=
c.2236T=
c.13931T= (p.Leu4644=)
c.13916T= (p.Leu4639=)
c.13913T= (p.Leu4638=)
c.391T=
c.13898T= (p.Leu4633=)
c.13928T= (p.Leu4643=)
c.13844T= (p.Leu4615=)
19g.38572204G>ACA507356165RYR1c.868G>A
c.2265G>A
c.2237G>A
c.13932G>A (p.Leu4644=)
c.13917G>A (p.Leu4639=)
c.13914G>A (p.Leu4638=)
c.392G>A
c.13899G>A (p.Leu4633=)
c.13929G>A (p.Leu4643=)
c.13845G>A (p.Leu4615=)
19g.38572204G>CCA507356167RYR1c.868G>C
c.2265G>C
c.2237G>C
c.13932G>C (p.Leu4644=)
c.13917G>C (p.Leu4639=)
c.13914G>C (p.Leu4638=)
c.392G>C
c.13899G>C (p.Leu4633=)
c.13929G>C (p.Leu4643=)
c.13845G>C (p.Leu4615=)
19g.38572204G=CA2335088444RYR1c.868G=
c.2265G=
c.2237G=
c.13932G= (p.Leu4644=)
c.13917G= (p.Leu4639=)
c.13914G= (p.Leu4638=)
c.392G=
c.13899G= (p.Leu4633=)
c.13929G= (p.Leu4643=)
c.13845G= (p.Leu4615=)
19g.38572204G>TCA060663RYR1c.868G>T
c.2265G>T
c.2237G>T
c.13932G>T (p.Leu4644=)
c.13917G>T (p.Leu4639=)
c.13914G>T (p.Leu4638=)
c.392G>T
c.13899G>T (p.Leu4633=)
c.13929G>T (p.Leu4643=)
c.13845G>T (p.Leu4615=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38572205C>ACA507356168RYR1c.869C>A
c.2266C>A
c.2238C>A
c.13933C>A (p.Arg4645=)
c.13918C>A (p.Arg4640=)
c.13915C>A (p.Arg4639=)
c.393C>A
c.13900C>A (p.Arg4634=)
c.13930C>A (p.Arg4644=)
c.13846C>A (p.Arg4616=)
19g.38572205C=CA2335088445RYR1c.869C=
c.2266C=
c.2238C=
c.13933C= (p.Arg4645=)
c.13918C= (p.Arg4640=)
c.13915C= (p.Arg4639=)
c.393C=
c.13900C= (p.Arg4634=)
c.13930C= (p.Arg4644=)
c.13846C= (p.Arg4616=)
19g.38572205C>GCA405681191RYR1c.869C>G
c.2266C>G
c.2238C>G
c.13933C>G (p.Arg4645Gly)
c.13918C>G (p.Arg4640Gly)
c.13915C>G (p.Arg4639Gly)
c.393C>G
c.13900C>G (p.Arg4634Gly)
c.13930C>G (p.Arg4644Gly)
c.13846C>G (p.Arg4616Gly)
ClinVar dbSNP
19g.38572205C>TCA060666RYR1c.869C>T
c.2266C>T
c.2238C>T
c.13933C>T (p.Arg4645Trp)
c.13918C>T (p.Arg4640Trp)
c.13915C>T (p.Arg4639Trp)
c.393C>T
c.13900C>T (p.Arg4634Trp)
c.13930C>T (p.Arg4644Trp)
c.13846C>T (p.Arg4616Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38572206G>ACA024086RYR1c.870G>A
c.2267G>A
c.2239G>A
c.13934G>A (p.Arg4645Gln)
c.13919G>A (p.Arg4640Gln)
c.13916G>A (p.Arg4639Gln)
c.394G>A
c.13901G>A (p.Arg4634Gln)
c.13931G>A (p.Arg4644Gln)
c.13847G>A (p.Arg4616Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38572206G>CCA405681193RYR1c.870G>C
c.2267G>C
c.2239G>C
c.13934G>C (p.Arg4645Pro)
c.13919G>C (p.Arg4640Pro)
c.13916G>C (p.Arg4639Pro)
c.394G>C
c.13901G>C (p.Arg4634Pro)
c.13931G>C (p.Arg4644Pro)
c.13847G>C (p.Arg4616Pro)
ClinVar dbSNP
19g.38572206G=CA2335088446RYR1c.870G=
c.2267G=
c.2239G=
c.13934G= (p.Arg4645=)
c.13919G= (p.Arg4640=)
c.13916G= (p.Arg4639=)
c.394G=
c.13901G= (p.Arg4634=)
c.13931G= (p.Arg4644=)
c.13847G= (p.Arg4616=)
19g.38572206G>TCA405681198RYR1c.870G>T
c.2267G>T
c.2239G>T
c.13934G>T (p.Arg4645Leu)
c.13919G>T (p.Arg4640Leu)
c.13916G>T (p.Arg4639Leu)
c.394G>T
c.13901G>T (p.Arg4634Leu)
c.13931G>T (p.Arg4644Leu)
c.13847G>T (p.Arg4616Leu)
19g.38572207G>ACA507356173RYR1c.871G>A
c.2268G>A
c.2240G>A
c.13935G>A (p.Arg4645=)
c.13920G>A (p.Arg4640=)
c.13917G>A (p.Arg4639=)
c.395G>A
c.13902G>A (p.Arg4634=)
c.13932G>A (p.Arg4644=)
c.13848G>A (p.Arg4616=)
19g.38572207G>CCA507356171RYR1c.871G>C
c.2268G>C
c.2240G>C
c.13935G>C (p.Arg4645=)
c.13920G>C (p.Arg4640=)
c.13917G>C (p.Arg4639=)
c.395G>C
c.13902G>C (p.Arg4634=)
c.13932G>C (p.Arg4644=)
c.13848G>C (p.Arg4616=)
19g.38572207G>TCA081036RYR1c.871G>T
c.2268G>T
c.2240G>T
c.13935G>T (p.Arg4645=)
c.13920G>T (p.Arg4640=)
c.13917G>T (p.Arg4639=)
c.395G>T
c.13902G>T (p.Arg4634=)
c.13932G>T (p.Arg4644=)
c.13848G>T (p.Arg4616=)
19g.38572208T>ACA405681202RYR1c.872T>A
c.2269T>A
c.2241T>A
c.13936T>A (p.Cys4646Ser)
c.13921T>A (p.Cys4641Ser)
c.13918T>A (p.Cys4640Ser)
c.396T>A
c.13903T>A (p.Cys4635Ser)
c.13933T>A (p.Cys4645Ser)
c.13849T>A (p.Cys4617Ser)
19g.38572208T>CCA405681207RYR1c.872T>C
c.2269T>C
c.2241T>C
c.13936T>C (p.Cys4646Arg)
c.13921T>C (p.Cys4641Arg)
c.13918T>C (p.Cys4640Arg)
c.396T>C
c.13903T>C (p.Cys4635Arg)
c.13933T>C (p.Cys4645Arg)
c.13849T>C (p.Cys4617Arg)
19g.38572208T>GCA405681204RYR1c.872T>G
c.2269T>G
c.2241T>G
c.13936T>G (p.Cys4646Gly)
c.13921T>G (p.Cys4641Gly)
c.13918T>G (p.Cys4640Gly)
c.396T>G
c.13903T>G (p.Cys4635Gly)
c.13933T>G (p.Cys4645Gly)
c.13849T>G (p.Cys4617Gly)
19g.38572209G>ACA081038RYR1c.873G>A
c.2270G>A
c.2242G>A
c.13937G>A (p.Cys4646Tyr)
c.13922G>A (p.Cys4641Tyr)
c.13919G>A (p.Cys4640Tyr)
c.397G>A
c.13904G>A (p.Cys4635Tyr)
c.13934G>A (p.Cys4645Tyr)
c.13850G>A (p.Cys4617Tyr)
ClinVar dbSNP gnomAD v4
19g.38572209G>CCA405681215RYR1c.873G>C
c.2270G>C
c.2242G>C
c.13937G>C (p.Cys4646Ser)
c.13922G>C (p.Cys4641Ser)
c.13919G>C (p.Cys4640Ser)
c.397G>C
c.13904G>C (p.Cys4635Ser)
c.13934G>C (p.Cys4645Ser)
c.13850G>C (p.Cys4617Ser)
19g.38572209G>TCA405681212RYR1c.873G>T
c.2270G>T
c.2242G>T
c.13937G>T (p.Cys4646Phe)
c.13922G>T (p.Cys4641Phe)
c.13919G>T (p.Cys4640Phe)
c.397G>T
c.13904G>T (p.Cys4635Phe)
c.13934G>T (p.Cys4645Phe)
c.13850G>T (p.Cys4617Phe)
19g.38572210_38572215delCA2830782551RYR1c.874_879del
c.2271_2276del
c.2243_2248del
c.13938_13943del (p.Leu4647_Ser4648del)
c.13923_13928del (p.Leu4642_Ser4643del)
c.13920_13925del (p.Leu4641_Ser4642del)
c.398_403del
c.13905_13910del (p.Leu4636_Ser4637del)
c.13935_13940del (p.Leu4646_Ser4647del)
c.13851_13856del (p.Leu4618_Ser4619del)
19g.38572210T>ACA405681218RYR1c.874T>A
c.2271T>A
c.2243T>A
c.13938T>A (p.Cys4646Ter)
c.13923T>A (p.Cys4641Ter)
c.13920T>A (p.Cys4640Ter)
c.398T>A
c.13905T>A (p.Cys4635Ter)
c.13935T>A (p.Cys4645Ter)
c.13851T>A (p.Cys4617Ter)
19g.38572210T>CCA507356177RYR1c.874T>C
c.2271T>C
c.2243T>C
c.13938T>C (p.Cys4646=)
c.13923T>C (p.Cys4641=)
c.13920T>C (p.Cys4640=)
c.398T>C
c.13905T>C (p.Cys4635=)
c.13935T>C (p.Cys4645=)
c.13851T>C (p.Cys4617=)
dbSNP
19g.38572210T>GCA405681228RYR1c.874T>G
c.2271T>G
c.2243T>G
c.13938T>G (p.Cys4646Trp)
c.13923T>G (p.Cys4641Trp)
c.13920T>G (p.Cys4640Trp)
c.398T>G
c.13905T>G (p.Cys4635Trp)
c.13935T>G (p.Cys4645Trp)
c.13851T>G (p.Cys4617Trp)
19g.38572210_38572216delinsTCTGAGCCA2335088447RYR1c.874_880delinsTCTGAGC
c.2271_2277delinsTCTGAGC
c.2243_2249delinsTCTGAGC
c.13938_13944delinsTCTGAGC (p.Cys4646=)
c.13923_13929delinsTCTGAGC (p.Cys4641=)
c.13920_13926delinsTCTGAGC (p.Cys4640=)
c.398_404delinsTCTGAGC
c.13905_13911delinsTCTGAGC (p.Cys4635=)
c.13935_13941delinsTCTGAGC (p.Cys4645=)
c.13851_13857delinsTCTGAGC (p.Cys4617=)
19g.38572211C>ACA405681234RYR1c.875C>A
c.2272C>A
c.2244C>A
c.13939C>A (p.Leu4647Met)
c.13924C>A (p.Leu4642Met)
c.13921C>A (p.Leu4641Met)
c.399C>A
c.13906C>A (p.Leu4636Met)
c.13936C>A (p.Leu4646Met)
c.13852C>A (p.Leu4618Met)
19g.38572211C>GCA405681235RYR1c.875C>G
c.2272C>G
c.2244C>G
c.13939C>G (p.Leu4647Val)
c.13924C>G (p.Leu4642Val)
c.13921C>G (p.Leu4641Val)
c.399C>G
c.13906C>G (p.Leu4636Val)
c.13936C>G (p.Leu4646Val)
c.13852C>G (p.Leu4618Val)
19g.38572211C>TCA507356182RYR1c.875C>T
c.2272C>T
c.2244C>T
c.13939C>T (p.Leu4647=)
c.13924C>T (p.Leu4642=)
c.13921C>T (p.Leu4641=)
c.399C>T
c.13906C>T (p.Leu4636=)
c.13936C>T (p.Leu4646=)
c.13852C>T (p.Leu4618=)
dbSNP
19g.38572213_38572218delCA024088RYR1c.877_882del
c.2274_2279del
c.2246_2251del
c.13941_13946del (p.Ser4648_Leu4649del)
c.13926_13931del (p.Ser4643_Leu4644del)
c.13923_13928del (p.Ser4642_Leu4643del)
c.401_406del
c.13908_13913del (p.Ser4637_Leu4638del)
c.13938_13943del (p.Ser4647_Leu4648del)
c.13854_13859del (p.Ser4619_Leu4620del)
ClinVar dbSNP
19g.38572212T>ACA405681236RYR1c.876T>A
c.2273T>A
c.2245T>A
c.13940T>A (p.Leu4647Gln)
c.13925T>A (p.Leu4642Gln)
c.13922T>A (p.Leu4641Gln)
c.400T>A
c.13907T>A (p.Leu4636Gln)
c.13937T>A (p.Leu4646Gln)
c.13853T>A (p.Leu4618Gln)
19g.38572212T>CCA405681239RYR1c.876T>C
c.2273T>C
c.2245T>C
c.13940T>C (p.Leu4647Pro)
c.13925T>C (p.Leu4642Pro)
c.13922T>C (p.Leu4641Pro)
c.400T>C
c.13907T>C (p.Leu4636Pro)
c.13937T>C (p.Leu4646Pro)
c.13853T>C (p.Leu4618Pro)
ClinVar dbSNP
19g.38572212T>GCA405681243RYR1c.876T>G
c.2273T>G
c.2245T>G
c.13940T>G (p.Leu4647Arg)
c.13925T>G (p.Leu4642Arg)
c.13922T>G (p.Leu4641Arg)
c.400T>G
c.13907T>G (p.Leu4636Arg)
c.13937T>G (p.Leu4646Arg)
c.13853T>G (p.Leu4618Arg)
19g.38572212T=CA2335088448RYR1c.876T=
c.2273T=
c.2245T=
c.13940T= (p.Leu4647=)
c.13925T= (p.Leu4642=)
c.13922T= (p.Leu4641=)
c.400T=
c.13907T= (p.Leu4636=)
c.13937T= (p.Leu4646=)
c.13853T= (p.Leu4618=)
19g.38572213G>ACA507356184RYR1c.877G>A
c.2274G>A
c.2246G>A
c.13941G>A (p.Leu4647=)
c.13926G>A (p.Leu4642=)
c.13923G>A (p.Leu4641=)
c.401G>A
c.13908G>A (p.Leu4636=)
c.13938G>A (p.Leu4646=)
c.13854G>A (p.Leu4618=)
19g.38572213G>CCA507356186RYR1c.877G>C
c.2274G>C
c.2246G>C
c.13941G>C (p.Leu4647=)
c.13926G>C (p.Leu4642=)
c.13923G>C (p.Leu4641=)
c.401G>C
c.13908G>C (p.Leu4636=)
c.13938G>C (p.Leu4646=)
c.13854G>C (p.Leu4618=)
19g.38572213G>TCA507356187RYR1c.877G>T
c.2274G>T
c.2246G>T
c.13941G>T (p.Leu4647=)
c.13926G>T (p.Leu4642=)
c.13923G>T (p.Leu4641=)
c.401G>T
c.13908G>T (p.Leu4636=)
c.13938G>T (p.Leu4646=)
c.13854G>T (p.Leu4618=)
19g.38572213_38572218delinsCTGAGCCA308114154RYR1c.877_882delinsCTGAGC
c.2274_2279delinsCTGAGC
c.2246_2251delinsCTGAGC
c.13941_13946delinsCTGAGC (p.Leu4648Ter)
c.13926_13931delinsCTGAGC (p.Leu4643Ter)
c.13923_13928delinsCTGAGC (p.Leu4642Ter)
c.401_406delinsCTGAGC
c.13908_13913delinsCTGAGC (p.Leu4637Ter)
c.13938_13943delinsCTGAGC (p.Leu4647Ter)
c.13854_13859delinsCTGAGC (p.Leu4619Ter)
19g.38572214A>CCA405681259RYR1c.878A>C
c.2275A>C
c.2247A>C
c.13942A>C (p.Ser4648Arg)
c.13927A>C (p.Ser4643Arg)
c.13924A>C (p.Ser4642Arg)
c.402A>C
c.13909A>C (p.Ser4637Arg)
c.13939A>C (p.Ser4647Arg)
c.13855A>C (p.Ser4619Arg)
19g.38572214A>GCA405681254RYR1c.878A>G
c.2275A>G
c.2247A>G
c.13942A>G (p.Ser4648Gly)
c.13927A>G (p.Ser4643Gly)
c.13924A>G (p.Ser4642Gly)
c.402A>G
c.13909A>G (p.Ser4637Gly)
c.13939A>G (p.Ser4647Gly)
c.13855A>G (p.Ser4619Gly)
19g.38572214A>TCA405681257RYR1c.878A>T
c.2275A>T
c.2247A>T
c.13942A>T (p.Ser4648Cys)
c.13927A>T (p.Ser4643Cys)
c.13924A>T (p.Ser4642Cys)
c.402A>T
c.13909A>T (p.Ser4637Cys)
c.13939A>T (p.Ser4647Cys)
c.13855A>T (p.Ser4619Cys)
dbSNP
19g.38572215G>ACA405681264RYR1c.879G>A
c.2276G>A
c.2248G>A
c.13943G>A (p.Ser4648Asn)
c.13928G>A (p.Ser4643Asn)
c.13925G>A (p.Ser4642Asn)
c.403G>A
c.13910G>A (p.Ser4637Asn)
c.13940G>A (p.Ser4647Asn)
c.13856G>A (p.Ser4619Asn)
19g.38572215G>CCA405681267RYR1c.879G>C
c.2276G>C
c.2248G>C
c.13943G>C (p.Ser4648Thr)
c.13928G>C (p.Ser4643Thr)
c.13925G>C (p.Ser4642Thr)
c.403G>C
c.13910G>C (p.Ser4637Thr)
c.13940G>C (p.Ser4647Thr)
c.13856G>C (p.Ser4619Thr)
19g.38572215G>TCA405681271RYR1c.879G>T
c.2276G>T
c.2248G>T
c.13943G>T (p.Ser4648Ile)
c.13928G>T (p.Ser4643Ile)
c.13925G>T (p.Ser4642Ile)
c.403G>T
c.13910G>T (p.Ser4637Ile)
c.13940G>T (p.Ser4647Ile)
c.13856G>T (p.Ser4619Ile)
gnomAD v4
19g.38572216C>ACA405681275RYR1c.880C>A
c.2277C>A
c.2249C>A
c.13944C>A (p.Ser4648Arg)
c.13929C>A (p.Ser4643Arg)
c.13926C>A (p.Ser4642Arg)
c.404C>A
c.13911C>A (p.Ser4637Arg)
c.13941C>A (p.Ser4647Arg)
c.13857C>A (p.Ser4619Arg)
19g.38572216C>GCA405681276RYR1c.880C>G
c.2277C>G
c.2249C>G
c.13944C>G (p.Ser4648Arg)
c.13929C>G (p.Ser4643Arg)
c.13926C>G (p.Ser4642Arg)
c.404C>G
c.13911C>G (p.Ser4637Arg)
c.13941C>G (p.Ser4647Arg)
c.13857C>G (p.Ser4619Arg)
19g.38572216C>TCA507356188RYR1c.880C>T
c.2277C>T
c.2249C>T
c.13944C>T (p.Ser4648=)
c.13929C>T (p.Ser4643=)
c.13926C>T (p.Ser4642=)
c.404C>T
c.13911C>T (p.Ser4637=)
c.13941C>T (p.Ser4647=)
c.13857C>T (p.Ser4619=)
19g.38572217C>ACA405681280RYR1c.881C>A
c.2278C>A
c.2250C>A
c.13945C>A (p.Leu4649Ile)
c.13930C>A (p.Leu4644Ile)
c.13927C>A (p.Leu4643Ile)
c.405C>A
c.13912C>A (p.Leu4638Ile)
c.13942C>A (p.Leu4648Ile)
c.13858C>A (p.Leu4620Ile)
19g.38572217C=CA2335088449RYR1c.881C=
c.2278C=
c.2250C=
c.13945C= (p.Leu4649=)
c.13930C= (p.Leu4644=)
c.13927C= (p.Leu4643=)
c.405C=
c.13912C= (p.Leu4638=)
c.13942C= (p.Leu4648=)
c.13858C= (p.Leu4620=)
19g.38572217C>GCA405681286RYR1c.881C>G
c.2278C>G
c.2250C>G
c.13945C>G (p.Leu4649Val)
c.13930C>G (p.Leu4644Val)
c.13927C>G (p.Leu4643Val)
c.405C>G
c.13912C>G (p.Leu4638Val)
c.13942C>G (p.Leu4648Val)
c.13858C>G (p.Leu4620Val)
19g.38572217C>TCA308114165RYR1c.881C>T
c.2278C>T
c.2250C>T
c.13945C>T (p.Leu4649Phe)
c.13930C>T (p.Leu4644Phe)
c.13927C>T (p.Leu4643Phe)
c.405C>T
c.13912C>T (p.Leu4638Phe)
c.13942C>T (p.Leu4648Phe)
c.13858C>T (p.Leu4620Phe)
dbSNP
19g.38572218T>ACA405681289RYR1c.882T>A
c.2279T>A
c.2251T>A
c.13946T>A (p.Leu4649His)
c.13931T>A (p.Leu4644His)
c.13928T>A (p.Leu4643His)
c.406T>A
c.13913T>A (p.Leu4638His)
c.13943T>A (p.Leu4648His)
c.13859T>A (p.Leu4620His)
19g.38572218T>CCA405681291RYR1c.882T>C
c.2279T>C
c.2251T>C
c.13946T>C (p.Leu4649Pro)
c.13931T>C (p.Leu4644Pro)
c.13928T>C (p.Leu4643Pro)
c.406T>C
c.13913T>C (p.Leu4638Pro)
c.13943T>C (p.Leu4648Pro)
c.13859T>C (p.Leu4620Pro)
19g.38572218T>GCA405681294RYR1c.882T>G
c.2279T>G
c.2251T>G
c.13946T>G (p.Leu4649Arg)
c.13931T>G (p.Leu4644Arg)
c.13928T>G (p.Leu4643Arg)
c.406T>G
c.13913T>G (p.Leu4638Arg)
c.13943T>G (p.Leu4648Arg)
c.13859T>G (p.Leu4620Arg)
19g.38572219C>ACA507356193RYR1c.883C>A
c.2280C>A
c.2252C>A
c.13947C>A (p.Leu4649=)
c.13932C>A (p.Leu4644=)
c.13929C>A (p.Leu4643=)
c.407C>A
c.13914C>A (p.Leu4638=)
c.13944C>A (p.Leu4648=)
c.13860C>A (p.Leu4620=)
19g.38572219C=CA2335088450RYR1c.883C=
c.2280C=
c.2252C=
c.13947C= (p.Leu4649=)
c.13932C= (p.Leu4644=)
c.13929C= (p.Leu4643=)
c.407C=
c.13914C= (p.Leu4638=)
c.13944C= (p.Leu4648=)
c.13860C= (p.Leu4620=)
19g.38572219C>GCA507356195RYR1c.883C>G
c.2280C>G
c.2252C>G
c.13947C>G (p.Leu4649=)
c.13932C>G (p.Leu4644=)
c.13929C>G (p.Leu4643=)
c.407C>G
c.13914C>G (p.Leu4638=)
c.13944C>G (p.Leu4648=)
c.13860C>G (p.Leu4620=)
dbSNP gnomAD v2
19g.38572219C>TCA507356196RYR1c.883C>T
c.2280C>T
c.2252C>T
c.13947C>T (p.Leu4649=)
c.13932C>T (p.Leu4644=)
c.13929C>T (p.Leu4643=)
c.407C>T
c.13914C>T (p.Leu4638=)
c.13944C>T (p.Leu4648=)
c.13860C>T (p.Leu4620=)
dbSNP
19g.38572220C>ACA405681295RYR1c.884C>A
c.2281C>A
c.2253C>A
c.13948C>A (p.Leu4650Met)
c.13933C>A (p.Leu4645Met)
c.13930C>A (p.Leu4644Met)
c.408C>A
c.13915C>A (p.Leu4639Met)
c.13945C>A (p.Leu4649Met)
c.13861C>A (p.Leu4621Met)
dbSNP gnomAD v4
19g.38572220C=CA2335088451RYR1c.884C=
c.2281C=
c.2253C=
c.13948C= (p.Leu4650=)
c.13933C= (p.Leu4645=)
c.13930C= (p.Leu4644=)
c.408C=
c.13915C= (p.Leu4639=)
c.13945C= (p.Leu4649=)
c.13861C= (p.Leu4621=)
19g.38572220C>GCA405681296RYR1c.884C>G
c.2281C>G
c.2253C>G
c.13948C>G (p.Leu4650Val)
c.13933C>G (p.Leu4645Val)
c.13930C>G (p.Leu4644Val)
c.408C>G
c.13915C>G (p.Leu4639Val)
c.13945C>G (p.Leu4649Val)
c.13861C>G (p.Leu4621Val)
19g.38572220C>TCA507356197RYR1c.884C>T
c.2281C>T
c.2253C>T
c.13948C>T (p.Leu4650=)
c.13933C>T (p.Leu4645=)
c.13930C>T (p.Leu4644=)
c.408C>T
c.13915C>T (p.Leu4639=)
c.13945C>T (p.Leu4649=)
c.13861C>T (p.Leu4621=)
ClinVar dbSNP gnomAD v4
19g.38572221T>ACA405681297RYR1c.885T>A
c.2282T>A
c.2254T>A
c.13949T>A (p.Leu4650Gln)
c.13934T>A (p.Leu4645Gln)
c.13931T>A (p.Leu4644Gln)
c.409T>A
c.13916T>A (p.Leu4639Gln)
c.13946T>A (p.Leu4649Gln)
c.13862T>A (p.Leu4621Gln)
19g.38572221T>CCA024091RYR1c.885T>C
c.2282T>C
c.2254T>C
c.13949T>C (p.Leu4650Pro)
c.13934T>C (p.Leu4645Pro)
c.13931T>C (p.Leu4644Pro)
c.409T>C
c.13916T>C (p.Leu4639Pro)
c.13946T>C (p.Leu4649Pro)
c.13862T>C (p.Leu4621Pro)
ClinVar dbSNP
19g.38572221T>GCA405681298RYR1c.885T>G
c.2282T>G
c.2254T>G
c.13949T>G (p.Leu4650Arg)
c.13934T>G (p.Leu4645Arg)
c.13931T>G (p.Leu4644Arg)
c.409T>G
c.13916T>G (p.Leu4639Arg)
c.13946T>G (p.Leu4649Arg)
c.13862T>G (p.Leu4621Arg)
19g.38572221T=CA2335088452RYR1c.885T=
c.2282T=
c.2254T=
c.13949T= (p.Leu4650=)
c.13934T= (p.Leu4645=)
c.13931T= (p.Leu4644=)
c.409T=
c.13916T= (p.Leu4639=)
c.13946T= (p.Leu4649=)
c.13862T= (p.Leu4621=)
19g.38572222G>ACA507356199RYR1c.886G>A
c.2283G>A
c.2255G>A
c.13950G>A (p.Leu4650=)
c.13935G>A (p.Leu4645=)
c.13932G>A (p.Leu4644=)
c.410G>A
c.13917G>A (p.Leu4639=)
c.13947G>A (p.Leu4649=)
c.13863G>A (p.Leu4621=)
COSMIC
19g.38572222G>CCA507356200RYR1c.886G>C
c.2283G>C
c.2255G>C
c.13950G>C (p.Leu4650=)
c.13935G>C (p.Leu4645=)
c.13932G>C (p.Leu4644=)
c.410G>C
c.13917G>C (p.Leu4639=)
c.13947G>C (p.Leu4649=)
c.13863G>C (p.Leu4621=)
19g.38572222G>TCA507356201RYR1c.886G>T
c.2283G>T
c.2255G>T
c.13950G>T (p.Leu4650=)
c.13935G>T (p.Leu4645=)
c.13932G>T (p.Leu4644=)
c.410G>T
c.13917G>T (p.Leu4639=)
c.13947G>T (p.Leu4649=)
c.13863G>T (p.Leu4621=)
COSMIC
19g.38572223C>ACA405681304RYR1c.887C>A
c.2284C>A
c.2256C>A
c.13951C>A (p.His4651Asn)
c.13936C>A (p.His4646Asn)
c.13933C>A (p.His4645Asn)
c.411C>A
c.13918C>A (p.His4640Asn)
c.13948C>A (p.His4650Asn)
c.13864C>A (p.His4622Asn)
19g.38572223C>GCA405681305RYR1c.887C>G
c.2284C>G
c.2256C>G
c.13951C>G (p.His4651Asp)
c.13936C>G (p.His4646Asp)
c.13933C>G (p.His4645Asp)
c.411C>G
c.13918C>G (p.His4640Asp)
c.13948C>G (p.His4650Asp)
c.13864C>G (p.His4622Asp)
19g.38572223C>TCA405681307RYR1c.887C>T
c.2284C>T
c.2256C>T
c.13951C>T (p.His4651Tyr)
c.13936C>T (p.His4646Tyr)
c.13933C>T (p.His4645Tyr)
c.411C>T
c.13918C>T (p.His4640Tyr)
c.13948C>T (p.His4650Tyr)
c.13864C>T (p.His4622Tyr)
19g.38572224A=CA2335088453RYR1c.888A=
c.2285A=
c.2257A=
c.13952A= (p.His4651=)
c.13937A= (p.His4646=)
c.13934A= (p.His4645=)
c.412A=
c.13919A= (p.His4640=)
c.13949A= (p.His4650=)
c.13865A= (p.His4622=)
19g.38572224A>CCA024093RYR1c.888A>C
c.2285A>C
c.2257A>C
c.13952A>C (p.His4651Pro)
c.13937A>C (p.His4646Pro)
c.13934A>C (p.His4645Pro)
c.412A>C
c.13919A>C (p.His4640Pro)
c.13949A>C (p.His4650Pro)
c.13865A>C (p.His4622Pro)
ClinVar dbSNP
19g.38572224A>GCA405681310RYR1c.888A>G
c.2285A>G
c.2257A>G
c.13952A>G (p.His4651Arg)
c.13937A>G (p.His4646Arg)
c.13934A>G (p.His4645Arg)
c.412A>G
c.13919A>G (p.His4640Arg)
c.13949A>G (p.His4650Arg)
c.13865A>G (p.His4622Arg)
ClinVar dbSNP
19g.38572224A>TCA405681314RYR1c.888A>T
c.2285A>T
c.2257A>T
c.13952A>T (p.His4651Leu)
c.13937A>T (p.His4646Leu)
c.13934A>T (p.His4645Leu)
c.412A>T
c.13919A>T (p.His4640Leu)
c.13949A>T (p.His4650Leu)
c.13865A>T (p.His4622Leu)
19g.38572225T>ACA405681320RYR1c.889T>A
c.2286T>A
c.2258T>A
c.13953T>A (p.His4651Gln)
c.13938T>A (p.His4646Gln)
c.13935T>A (p.His4645Gln)
c.413T>A
c.13920T>A (p.His4640Gln)
c.13950T>A (p.His4650Gln)
c.13866T>A (p.His4622Gln)
19g.38572225T>CCA507356207RYR1c.889T>C
c.2286T>C
c.2258T>C
c.13953T>C (p.His4651=)
c.13938T>C (p.His4646=)
c.13935T>C (p.His4645=)
c.413T>C
c.13920T>C (p.His4640=)
c.13950T>C (p.His4650=)
c.13866T>C (p.His4622=)
19g.38572225T>GCA405681323RYR1c.889T>G
c.2286T>G
c.2258T>G
c.13953T>G (p.His4651Gln)
c.13938T>G (p.His4646Gln)
c.13935T>G (p.His4645Gln)
c.413T>G
c.13920T>G (p.His4640Gln)
c.13950T>G (p.His4650Gln)
c.13866T>G (p.His4622Gln)
19g.38572226A>CCA405681327RYR1c.890A>C
c.2287A>C
c.2259A>C
c.13954A>C (p.Thr4652Pro)
c.13939A>C (p.Thr4647Pro)
c.13936A>C (p.Thr4646Pro)
c.414A>C
c.13921A>C (p.Thr4641Pro)
c.13951A>C (p.Thr4651Pro)
c.13867A>C (p.Thr4623Pro)
19g.38572226A>GCA405681332RYR1c.890A>G
c.2287A>G
c.2259A>G
c.13954A>G (p.Thr4652Ala)
c.13939A>G (p.Thr4647Ala)
c.13936A>G (p.Thr4646Ala)
c.414A>G
c.13921A>G (p.Thr4641Ala)
c.13951A>G (p.Thr4651Ala)
c.13867A>G (p.Thr4623Ala)
19g.38572226A>TCA405681335RYR1c.890A>T
c.2287A>T
c.2259A>T
c.13954A>T (p.Thr4652Ser)
c.13939A>T (p.Thr4647Ser)
c.13936A>T (p.Thr4646Ser)
c.414A>T
c.13921A>T (p.Thr4641Ser)
c.13951A>T (p.Thr4651Ser)
c.13867A>T (p.Thr4623Ser)
19g.38572227C>ACA405681339RYR1c.891C>A
c.2288C>A
c.2260C>A
c.13955C>A (p.Thr4652Lys)
c.13940C>A (p.Thr4647Lys)
c.13937C>A (p.Thr4646Lys)
c.415C>A
c.13922C>A (p.Thr4641Lys)
c.13952C>A (p.Thr4651Lys)
c.13868C>A (p.Thr4623Lys)
19g.38572227C>GCA405681342RYR1c.891C>G
c.2288C>G
c.2260C>G
c.13955C>G (p.Thr4652Arg)
c.13940C>G (p.Thr4647Arg)
c.13937C>G (p.Thr4646Arg)
c.415C>G
c.13922C>G (p.Thr4641Arg)
c.13952C>G (p.Thr4651Arg)
c.13868C>G (p.Thr4623Arg)
19g.38572227C>TCA405681344RYR1c.891C>T
c.2288C>T
c.2260C>T
c.13955C>T (p.Thr4652Ile)
c.13940C>T (p.Thr4647Ile)
c.13937C>T (p.Thr4646Ile)
c.415C>T
c.13922C>T (p.Thr4641Ile)
c.13952C>T (p.Thr4651Ile)
c.13868C>T (p.Thr4623Ile)
ClinVar

Number of alleles fetched