Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38572071_38572110delCA2814348012RYR1c.735_774del
c.2132_2171del
c.2104_2143del
c.13799_13838del (p.Asp4600AlafsTer?)
c.13784_13823del (p.Asp4595AlafsTer?)
c.13781_13820del (p.Asp4594AlafsTer?)
c.259_298del
c.13766_13805del (p.Asp4589AlafsTer?)
c.13796_13835del (p.Asp4599AlafsTer?)
c.13712_13751del (p.Asp4571AlafsTer?)
19g.38572085_38572097delinsGGCTCTGGTGGCACA2335088380RYR1c.749_761delinsGGCTCTGGTGGCA
c.2146_2158delinsGGCTCTGGTGGCA
c.2118_2130delinsGGCTCTGGTGGCA
c.13813_13825delinsGGCTCTGGTGGCA (p.Gly4605=)
c.13798_13810delinsGGCTCTGGTGGCA (p.Gly4600=)
c.13795_13807delinsGGCTCTGGTGGCA (p.Gly4599=)
c.273_285delinsGGCTCTGGTGGCA
c.13780_13792delinsGGCTCTGGTGGCA (p.Gly4594=)
c.13810_13822delinsGGCTCTGGTGGCA (p.Gly4604=)
c.13726_13738delinsGGCTCTGGTGGCA (p.Gly4576=)
19g.38572093_38572104delCA081012RYR1c.757_768del
c.2154_2165del
c.2126_2137del
c.13821_13832del (p.Gly4608_Gly4611del)
c.13806_13817del (p.Gly4603_Gly4606del)
c.13803_13814del (p.Gly4602_Gly4605del)
c.281_292del
c.13788_13799del (p.Gly4597_Gly4600del)
c.13818_13829del (p.Gly4607_Gly4610del)
c.13734_13745del (p.Gly4579_Gly4582del)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.38572092G>ACA405680488RYR1c.756G>A
c.2153G>A
c.2125G>A
c.13820G>A (p.Gly4607Asp)
c.13805G>A (p.Gly4602Asp)
c.13802G>A (p.Gly4601Asp)
c.280G>A
c.13787G>A (p.Gly4596Asp)
c.13817G>A (p.Gly4606Asp)
c.13733G>A (p.Gly4578Asp)
19g.38572092G>CCA405680490RYR1c.756G>C
c.2153G>C
c.2125G>C
c.13820G>C (p.Gly4607Ala)
c.13805G>C (p.Gly4602Ala)
c.13802G>C (p.Gly4601Ala)
c.280G>C
c.13787G>C (p.Gly4596Ala)
c.13817G>C (p.Gly4606Ala)
c.13733G>C (p.Gly4578Ala)
19g.38572092G>TCA405680489RYR1c.756G>T
c.2153G>T
c.2125G>T
c.13820G>T (p.Gly4607Val)
c.13805G>T (p.Gly4602Val)
c.13802G>T (p.Gly4601Val)
c.280G>T
c.13787G>T (p.Gly4596Val)
c.13817G>T (p.Gly4606Val)
c.13733G>T (p.Gly4578Val)
19g.38572093T>ACA507355985RYR1c.757T>A
c.2154T>A
c.2126T>A
c.13821T>A (p.Gly4607=)
c.13806T>A (p.Gly4602=)
c.13803T>A (p.Gly4601=)
c.281T>A
c.13788T>A (p.Gly4596=)
c.13818T>A (p.Gly4606=)
c.13734T>A (p.Gly4578=)
19g.38572093T>CCA507355986RYR1c.757T>C
c.2154T>C
c.2126T>C
c.13821T>C (p.Gly4607=)
c.13806T>C (p.Gly4602=)
c.13803T>C (p.Gly4601=)
c.281T>C
c.13788T>C (p.Gly4596=)
c.13818T>C (p.Gly4606=)
c.13734T>C (p.Gly4578=)
19g.38572093T>GCA507355987RYR1c.757T>G
c.2154T>G
c.2126T>G
c.13821T>G (p.Gly4607=)
c.13806T>G (p.Gly4602=)
c.13803T>G (p.Gly4601=)
c.281T>G
c.13788T>G (p.Gly4596=)
c.13818T>G (p.Gly4606=)
c.13734T>G (p.Gly4578=)
19g.38572094G>ACA405680491RYR1c.758G>A
c.2155G>A
c.2127G>A
c.13822G>A (p.Gly4608Ser)
c.13807G>A (p.Gly4603Ser)
c.13804G>A (p.Gly4602Ser)
c.282G>A
c.13789G>A (p.Gly4597Ser)
c.13819G>A (p.Gly4607Ser)
c.13735G>A (p.Gly4579Ser)
19g.38572094G>CCA405680492RYR1c.758G>C
c.2155G>C
c.2127G>C
c.13822G>C (p.Gly4608Arg)
c.13807G>C (p.Gly4603Arg)
c.13804G>C (p.Gly4602Arg)
c.282G>C
c.13789G>C (p.Gly4597Arg)
c.13819G>C (p.Gly4607Arg)
c.13735G>C (p.Gly4579Arg)
19g.38572094G>TCA405680493RYR1c.758G>T
c.2155G>T
c.2127G>T
c.13822G>T (p.Gly4608Cys)
c.13807G>T (p.Gly4603Cys)
c.13804G>T (p.Gly4602Cys)
c.282G>T
c.13789G>T (p.Gly4597Cys)
c.13819G>T (p.Gly4607Cys)
c.13735G>T (p.Gly4579Cys)
COSMIC
19g.38572095G>ACA405680494RYR1c.759G>A
c.2156G>A
c.2128G>A
c.13823G>A (p.Gly4608Asp)
c.13808G>A (p.Gly4603Asp)
c.13805G>A (p.Gly4602Asp)
c.283G>A
c.13790G>A (p.Gly4597Asp)
c.13820G>A (p.Gly4607Asp)
c.13736G>A (p.Gly4579Asp)
19g.38572095G>CCA405680495RYR1c.759G>C
c.2156G>C
c.2128G>C
c.13823G>C (p.Gly4608Ala)
c.13808G>C (p.Gly4603Ala)
c.13805G>C (p.Gly4602Ala)
c.283G>C
c.13790G>C (p.Gly4597Ala)
c.13820G>C (p.Gly4607Ala)
c.13736G>C (p.Gly4579Ala)
19g.38572095G=CA2335088385RYR1c.759G=
c.2156G=
c.2128G=
c.13823G= (p.Gly4608=)
c.13808G= (p.Gly4603=)
c.13805G= (p.Gly4602=)
c.283G=
c.13790G= (p.Gly4597=)
c.13820G= (p.Gly4607=)
c.13736G= (p.Gly4579=)
19g.38572095G>TCA405680496RYR1c.759G>T
c.2156G>T
c.2128G>T
c.13823G>T (p.Gly4608Val)
c.13808G>T (p.Gly4603Val)
c.13805G>T (p.Gly4602Val)
c.283G>T
c.13790G>T (p.Gly4597Val)
c.13820G>T (p.Gly4607Val)
c.13736G>T (p.Gly4579Val)
19g.38572095_38572096insAGAGTCTGAGACCA920105608RYR1c.759_760insAGAGTCTGAGAC
c.2156_2157insAGAGTCTGAGAC
c.2128_2129insAGAGTCTGAGAC
c.13823_13824insAGAGTCTGAGAC (p.Gly4608_Ser4609insGluSerGluThr)
c.13808_13809insAGAGTCTGAGAC (p.Gly4603_Ser4604insGluSerGluThr)
c.13805_13806insAGAGTCTGAGAC (p.Gly4602_Ser4603insGluSerGluThr)
c.283_284insAGAGTCTGAGAC
c.13790_13791insAGAGTCTGAGAC (p.Gly4597_Ser4598insGluSerGluThr)
c.13820_13821insAGAGTCTGAGAC (p.Gly4607_Ser4608insGluSerGluThr)
c.13736_13737insAGAGTCTGAGAC (p.Gly4579_Ser4580insGluSerGluThr)
dbSNP
19g.38572096C>ACA507355988RYR1c.760C>A
c.2157C>A
c.2129C>A
c.13824C>A (p.Gly4608=)
c.13809C>A (p.Gly4603=)
c.13806C>A (p.Gly4602=)
c.284C>A
c.13791C>A (p.Gly4597=)
c.13821C>A (p.Gly4607=)
c.13737C>A (p.Gly4579=)
19g.38572096C=CA2335088386RYR1c.760C=
c.2157C=
c.2129C=
c.13824C= (p.Gly4608=)
c.13809C= (p.Gly4603=)
c.13806C= (p.Gly4602=)
c.284C=
c.13791C= (p.Gly4597=)
c.13821C= (p.Gly4607=)
c.13737C= (p.Gly4579=)
19g.38572096C>GCA507355989RYR1c.760C>G
c.2157C>G
c.2129C>G
c.13824C>G (p.Gly4608=)
c.13809C>G (p.Gly4603=)
c.13806C>G (p.Gly4602=)
c.284C>G
c.13791C>G (p.Gly4597=)
c.13821C>G (p.Gly4607=)
c.13737C>G (p.Gly4579=)
19g.38572096C>TCA507355990RYR1c.760C>T
c.2157C>T
c.2129C>T
c.13824C>T (p.Gly4608=)
c.13809C>T (p.Gly4603=)
c.13806C>T (p.Gly4602=)
c.284C>T
c.13791C>T (p.Gly4597=)
c.13821C>T (p.Gly4607=)
c.13737C>T (p.Gly4579=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38572097A>CCA405680497RYR1c.761A>C
c.2158A>C
c.2130A>C
c.13825A>C (p.Ser4609Arg)
c.13810A>C (p.Ser4604Arg)
c.13807A>C (p.Ser4603Arg)
c.285A>C
c.13792A>C (p.Ser4598Arg)
c.13822A>C (p.Ser4608Arg)
c.13738A>C (p.Ser4580Arg)
19g.38572097A>GCA405680498RYR1c.761A>G
c.2158A>G
c.2130A>G
c.13825A>G (p.Ser4609Gly)
c.13810A>G (p.Ser4604Gly)
c.13807A>G (p.Ser4603Gly)
c.285A>G
c.13792A>G (p.Ser4598Gly)
c.13822A>G (p.Ser4608Gly)
c.13738A>G (p.Ser4580Gly)
dbSNP
19g.38572097A>TCA405680499RYR1c.761A>T
c.2158A>T
c.2130A>T
c.13825A>T (p.Ser4609Cys)
c.13810A>T (p.Ser4604Cys)
c.13807A>T (p.Ser4603Cys)
c.285A>T
c.13792A>T (p.Ser4598Cys)
c.13822A>T (p.Ser4608Cys)
c.13738A>T (p.Ser4580Cys)
19g.38572098G>ACA060566RYR1c.762G>A
c.2159G>A
c.2131G>A
c.13826G>A (p.Ser4609Asn)
c.13811G>A (p.Ser4604Asn)
c.13808G>A (p.Ser4603Asn)
c.286G>A
c.13793G>A (p.Ser4598Asn)
c.13823G>A (p.Ser4608Asn)
c.13739G>A (p.Ser4580Asn)
dbSNP ExAC gnomAD v2
19g.38572098G>CCA405680500RYR1c.762G>C
c.2159G>C
c.2131G>C
c.13826G>C (p.Ser4609Thr)
c.13811G>C (p.Ser4604Thr)
c.13808G>C (p.Ser4603Thr)
c.286G>C
c.13793G>C (p.Ser4598Thr)
c.13823G>C (p.Ser4608Thr)
c.13739G>C (p.Ser4580Thr)
19g.38572098G=CA2335088387RYR1c.762G=
c.2159G=
c.2131G=
c.13826G= (p.Ser4609=)
c.13811G= (p.Ser4604=)
c.13808G= (p.Ser4603=)
c.286G=
c.13793G= (p.Ser4598=)
c.13823G= (p.Ser4608=)
c.13739G= (p.Ser4580=)
19g.38572098G>TCA405680501RYR1c.762G>T
c.2159G>T
c.2131G>T
c.13826G>T (p.Ser4609Ile)
c.13811G>T (p.Ser4604Ile)
c.13808G>T (p.Ser4603Ile)
c.286G>T
c.13793G>T (p.Ser4598Ile)
c.13823G>T (p.Ser4608Ile)
c.13739G>T (p.Ser4580Ile)
gnomAD v4
19g.38572099C>ACA405680502RYR1c.763C>A
c.2160C>A
c.2132C>A
c.13827C>A (p.Ser4609Arg)
c.13812C>A (p.Ser4604Arg)
c.13809C>A (p.Ser4603Arg)
c.287C>A
c.13794C>A (p.Ser4598Arg)
c.13824C>A (p.Ser4608Arg)
c.13740C>A (p.Ser4580Arg)
19g.38572099C>GCA405680503RYR1c.763C>G
c.2160C>G
c.2132C>G
c.13827C>G (p.Ser4609Arg)
c.13812C>G (p.Ser4604Arg)
c.13809C>G (p.Ser4603Arg)
c.287C>G
c.13794C>G (p.Ser4598Arg)
c.13824C>G (p.Ser4608Arg)
c.13740C>G (p.Ser4580Arg)
19g.38572099C>TCA507355992RYR1c.763C>T
c.2160C>T
c.2132C>T
c.13827C>T (p.Ser4609=)
c.13812C>T (p.Ser4604=)
c.13809C>T (p.Ser4603=)
c.287C>T
c.13794C>T (p.Ser4598=)
c.13824C>T (p.Ser4608=)
c.13740C>T (p.Ser4580=)
19g.38572100T>ACA405680504RYR1c.764T>A
c.2161T>A
c.2133T>A
c.13828T>A (p.Ser4610Thr)
c.13813T>A (p.Ser4605Thr)
c.13810T>A (p.Ser4604Thr)
c.288T>A
c.13795T>A (p.Ser4599Thr)
c.13825T>A (p.Ser4609Thr)
c.13741T>A (p.Ser4581Thr)
19g.38572100T>CCA405680506RYR1c.764T>C
c.2161T>C
c.2133T>C
c.13828T>C (p.Ser4610Pro)
c.13813T>C (p.Ser4605Pro)
c.13810T>C (p.Ser4604Pro)
c.288T>C
c.13795T>C (p.Ser4599Pro)
c.13825T>C (p.Ser4609Pro)
c.13741T>C (p.Ser4581Pro)
19g.38572100T>GCA405680505RYR1c.764T>G
c.2161T>G
c.2133T>G
c.13828T>G (p.Ser4610Ala)
c.13813T>G (p.Ser4605Ala)
c.13810T>G (p.Ser4604Ala)
c.288T>G
c.13795T>G (p.Ser4599Ala)
c.13825T>G (p.Ser4609Ala)
c.13741T>G (p.Ser4581Ala)
19g.38572101C>ACA405680507RYR1c.765C>A
c.2162C>A
c.2134C>A
c.13829C>A (p.Ser4610Tyr)
c.13814C>A (p.Ser4605Tyr)
c.13811C>A (p.Ser4604Tyr)
c.289C>A
c.13796C>A (p.Ser4599Tyr)
c.13826C>A (p.Ser4609Tyr)
c.13742C>A (p.Ser4581Tyr)
19g.38572101C=CA2335088388RYR1c.765C=
c.2162C=
c.2134C=
c.13829C= (p.Ser4610=)
c.13814C= (p.Ser4605=)
c.13811C= (p.Ser4604=)
c.289C=
c.13796C= (p.Ser4599=)
c.13826C= (p.Ser4609=)
c.13742C= (p.Ser4581=)
19g.38572101C>GCA405680508RYR1c.765C>G
c.2162C>G
c.2134C>G
c.13829C>G (p.Ser4610Cys)
c.13814C>G (p.Ser4605Cys)
c.13811C>G (p.Ser4604Cys)
c.289C>G
c.13796C>G (p.Ser4599Cys)
c.13826C>G (p.Ser4609Cys)
c.13742C>G (p.Ser4581Cys)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38572101C>TCA405680509RYR1c.765C>T
c.2162C>T
c.2134C>T
c.13829C>T (p.Ser4610Phe)
c.13814C>T (p.Ser4605Phe)
c.13811C>T (p.Ser4604Phe)
c.289C>T
c.13796C>T (p.Ser4599Phe)
c.13826C>T (p.Ser4609Phe)
c.13742C>T (p.Ser4581Phe)
19g.38572102T>ACA507355993RYR1c.766T>A
c.2163T>A
c.2135T>A
c.13830T>A (p.Ser4610=)
c.13815T>A (p.Ser4605=)
c.13812T>A (p.Ser4604=)
c.290T>A
c.13797T>A (p.Ser4599=)
c.13827T>A (p.Ser4609=)
c.13743T>A (p.Ser4581=)
19g.38572102T>CCA507355994RYR1c.766T>C
c.2163T>C
c.2135T>C
c.13830T>C (p.Ser4610=)
c.13815T>C (p.Ser4605=)
c.13812T>C (p.Ser4604=)
c.290T>C
c.13797T>C (p.Ser4599=)
c.13827T>C (p.Ser4609=)
c.13743T>C (p.Ser4581=)
19g.38572102T>GCA507355996RYR1c.766T>G
c.2163T>G
c.2135T>G
c.13830T>G (p.Ser4610=)
c.13815T>G (p.Ser4605=)
c.13812T>G (p.Ser4604=)
c.290T>G
c.13797T>G (p.Ser4599=)
c.13827T>G (p.Ser4609=)
c.13743T>G (p.Ser4581=)
19g.38572103G>ACA405680510RYR1c.767G>A
c.2164G>A
c.2136G>A
c.13831G>A (p.Gly4611Ser)
c.13816G>A (p.Gly4606Ser)
c.13813G>A (p.Gly4605Ser)
c.291G>A
c.13798G>A (p.Gly4600Ser)
c.13828G>A (p.Gly4610Ser)
c.13744G>A (p.Gly4582Ser)
19g.38572103G>CCA405680511RYR1c.767G>C
c.2164G>C
c.2136G>C
c.13831G>C (p.Gly4611Arg)
c.13816G>C (p.Gly4606Arg)
c.13813G>C (p.Gly4605Arg)
c.291G>C
c.13798G>C (p.Gly4600Arg)
c.13828G>C (p.Gly4610Arg)
c.13744G>C (p.Gly4582Arg)
19g.38572103G>TCA405680512RYR1c.767G>T
c.2164G>T
c.2136G>T
c.13831G>T (p.Gly4611Cys)
c.13816G>T (p.Gly4606Cys)
c.13813G>T (p.Gly4605Cys)
c.291G>T
c.13798G>T (p.Gly4600Cys)
c.13828G>T (p.Gly4610Cys)
c.13744G>T (p.Gly4582Cys)
19g.38572104G>ACA405680513RYR1c.768G>A
c.2165G>A
c.2137G>A
c.13832G>A (p.Gly4611Asp)
c.13817G>A (p.Gly4606Asp)
c.13814G>A (p.Gly4605Asp)
c.292G>A
c.13799G>A (p.Gly4600Asp)
c.13829G>A (p.Gly4610Asp)
c.13745G>A (p.Gly4582Asp)
ClinVar dbSNP
19g.38572104G>CCA405680514RYR1c.768G>C
c.2165G>C
c.2137G>C
c.13832G>C (p.Gly4611Ala)
c.13817G>C (p.Gly4606Ala)
c.13814G>C (p.Gly4605Ala)
c.292G>C
c.13799G>C (p.Gly4600Ala)
c.13829G>C (p.Gly4610Ala)
c.13745G>C (p.Gly4582Ala)
ClinVar
19g.38572104G>TCA405680517RYR1c.768G>T
c.2165G>T
c.2137G>T
c.13832G>T (p.Gly4611Val)
c.13817G>T (p.Gly4606Val)
c.13814G>T (p.Gly4605Val)
c.292G>T
c.13799G>T (p.Gly4600Val)
c.13829G>T (p.Gly4610Val)
c.13745G>T (p.Gly4582Val)
19g.38572105C>ACA507355999RYR1c.769C>A
c.2166C>A
c.2138C>A
c.13833C>A (p.Gly4611=)
c.13818C>A (p.Gly4606=)
c.13815C>A (p.Gly4605=)
c.293C>A
c.13800C>A (p.Gly4600=)
c.13830C>A (p.Gly4610=)
c.13746C>A (p.Gly4582=)
19g.38572105C>GCA507356000RYR1c.769C>G
c.2166C>G
c.2138C>G
c.13833C>G (p.Gly4611=)
c.13818C>G (p.Gly4606=)
c.13815C>G (p.Gly4605=)
c.293C>G
c.13800C>G (p.Gly4600=)
c.13830C>G (p.Gly4610=)
c.13746C>G (p.Gly4582=)
ClinVar
19g.38572105C>TCA507356002RYR1c.769C>T
c.2166C>T
c.2138C>T
c.13833C>T (p.Gly4611=)
c.13818C>T (p.Gly4606=)
c.13815C>T (p.Gly4605=)
c.293C>T
c.13800C>T (p.Gly4600=)
c.13830C>T (p.Gly4610=)
c.13746C>T (p.Gly4582=)
19g.38572106T>ACA405680518RYR1c.770T>A
c.2167T>A
c.2139T>A
c.13834T>A (p.Trp4612Arg)
c.13819T>A (p.Trp4607Arg)
c.13816T>A (p.Trp4606Arg)
c.294T>A
c.13801T>A (p.Trp4601Arg)
c.13831T>A (p.Trp4611Arg)
c.13747T>A (p.Trp4583Arg)
19g.38572106T>CCA405680519RYR1c.770T>C
c.2167T>C
c.2139T>C
c.13834T>C (p.Trp4612Arg)
c.13819T>C (p.Trp4607Arg)
c.13816T>C (p.Trp4606Arg)
c.294T>C
c.13801T>C (p.Trp4601Arg)
c.13831T>C (p.Trp4611Arg)
c.13747T>C (p.Trp4583Arg)
19g.38572106T>GCA405680521RYR1c.770T>G
c.2167T>G
c.2139T>G
c.13834T>G (p.Trp4612Gly)
c.13819T>G (p.Trp4607Gly)
c.13816T>G (p.Trp4606Gly)
c.294T>G
c.13801T>G (p.Trp4601Gly)
c.13831T>G (p.Trp4611Gly)
c.13747T>G (p.Trp4583Gly)
ClinVar
19g.38572107G>ACA060573RYR1c.771G>A
c.2168G>A
c.2140G>A
c.13835G>A (p.Trp4612Ter)
c.13820G>A (p.Trp4607Ter)
c.13817G>A (p.Trp4606Ter)
c.295G>A
c.13802G>A (p.Trp4601Ter)
c.13832G>A (p.Trp4611Ter)
c.13748G>A (p.Trp4583Ter)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.38572107G>CCA405680523RYR1c.771G>C
c.2168G>C
c.2140G>C
c.13835G>C (p.Trp4612Ser)
c.13820G>C (p.Trp4607Ser)
c.13817G>C (p.Trp4606Ser)
c.295G>C
c.13802G>C (p.Trp4601Ser)
c.13832G>C (p.Trp4611Ser)
c.13748G>C (p.Trp4583Ser)
19g.38572107G=CA2335088389RYR1c.771G=
c.2168G=
c.2140G=
c.13835G= (p.Trp4612=)
c.13820G= (p.Trp4607=)
c.13817G= (p.Trp4606=)
c.295G=
c.13802G= (p.Trp4601=)
c.13832G= (p.Trp4611=)
c.13748G= (p.Trp4583=)
19g.38572107G>TCA405680524RYR1c.771G>T
c.2168G>T
c.2140G>T
c.13835G>T (p.Trp4612Leu)
c.13820G>T (p.Trp4607Leu)
c.13817G>T (p.Trp4606Leu)
c.295G>T
c.13802G>T (p.Trp4601Leu)
c.13832G>T (p.Trp4611Leu)
c.13748G>T (p.Trp4583Leu)
COSMIC
19g.38572108G>ACA405680529RYR1c.772G>A
c.2169G>A
c.2141G>A
c.13836G>A (p.Trp4612Ter)
c.13821G>A (p.Trp4607Ter)
c.13818G>A (p.Trp4606Ter)
c.296G>A
c.13803G>A (p.Trp4601Ter)
c.13833G>A (p.Trp4611Ter)
c.13749G>A (p.Trp4583Ter)
ClinVar dbSNP COSMIC
19g.38572108G>CCA405680530RYR1c.772G>C
c.2169G>C
c.2141G>C
c.13836G>C (p.Trp4612Cys)
c.13821G>C (p.Trp4607Cys)
c.13818G>C (p.Trp4606Cys)
c.296G>C
c.13803G>C (p.Trp4601Cys)
c.13833G>C (p.Trp4611Cys)
c.13749G>C (p.Trp4583Cys)
19g.38572108G=CA2335088390RYR1c.772G=
c.2169G=
c.2141G=
c.13836G= (p.Trp4612=)
c.13821G= (p.Trp4607=)
c.13818G= (p.Trp4606=)
c.296G=
c.13803G= (p.Trp4601=)
c.13833G= (p.Trp4611=)
c.13749G= (p.Trp4583=)
19g.38572108G>TCA405680531RYR1c.772G>T
c.2169G>T
c.2141G>T
c.13836G>T (p.Trp4612Cys)
c.13821G>T (p.Trp4607Cys)
c.13818G>T (p.Trp4606Cys)
c.296G>T
c.13803G>T (p.Trp4601Cys)
c.13833G>T (p.Trp4611Cys)
c.13749G>T (p.Trp4583Cys)
19g.38572109G>ACA405680532RYR1c.773G>A
c.2170G>A
c.2142G>A
c.13837G>A (p.Gly4613Ser)
c.13822G>A (p.Gly4608Ser)
c.13819G>A (p.Gly4607Ser)
c.297G>A
c.13804G>A (p.Gly4602Ser)
c.13834G>A (p.Gly4612Ser)
c.13750G>A (p.Gly4584Ser)
COSMIC
19g.38572109G>CCA405680533RYR1c.773G>C
c.2170G>C
c.2142G>C
c.13837G>C (p.Gly4613Arg)
c.13822G>C (p.Gly4608Arg)
c.13819G>C (p.Gly4607Arg)
c.297G>C
c.13804G>C (p.Gly4602Arg)
c.13834G>C (p.Gly4612Arg)
c.13750G>C (p.Gly4584Arg)
19g.38572109G>TCA405680534RYR1c.773G>T
c.2170G>T
c.2142G>T
c.13837G>T (p.Gly4613Cys)
c.13822G>T (p.Gly4608Cys)
c.13819G>T (p.Gly4607Cys)
c.297G>T
c.13804G>T (p.Gly4602Cys)
c.13834G>T (p.Gly4612Cys)
c.13750G>T (p.Gly4584Cys)
19g.38572110G>ACA081015RYR1c.774G>A
c.2171G>A
c.2143G>A
c.13838G>A (p.Gly4613Asp)
c.13823G>A (p.Gly4608Asp)
c.13820G>A (p.Gly4607Asp)
c.298G>A
c.13805G>A (p.Gly4602Asp)
c.13835G>A (p.Gly4612Asp)
c.13751G>A (p.Gly4584Asp)
19g.38572110G>CCA405680535RYR1c.774G>C
c.2171G>C
c.2143G>C
c.13838G>C (p.Gly4613Ala)
c.13823G>C (p.Gly4608Ala)
c.13820G>C (p.Gly4607Ala)
c.298G>C
c.13805G>C (p.Gly4602Ala)
c.13835G>C (p.Gly4612Ala)
c.13751G>C (p.Gly4584Ala)
dbSNP
19g.38572110G=CA2335088391RYR1c.774G=
c.2171G=
c.2143G=
c.13838G= (p.Gly4613=)
c.13823G= (p.Gly4608=)
c.13820G= (p.Gly4607=)
c.298G=
c.13805G= (p.Gly4602=)
c.13835G= (p.Gly4612=)
c.13751G= (p.Gly4584=)
19g.38572110G>TCA405680536RYR1c.774G>T
c.2171G>T
c.2143G>T
c.13838G>T (p.Gly4613Val)
c.13823G>T (p.Gly4608Val)
c.13820G>T (p.Gly4607Val)
c.298G>T
c.13805G>T (p.Gly4602Val)
c.13835G>T (p.Gly4612Val)
c.13751G>T (p.Gly4584Val)
19g.38572111C>ACA060577RYR1c.775C>A
c.2172C>A
c.2144C>A
c.13839C>A (p.Gly4613=)
c.13824C>A (p.Gly4608=)
c.13821C>A (p.Gly4607=)
c.299C>A
c.13806C>A (p.Gly4602=)
c.13836C>A (p.Gly4612=)
c.13752C>A (p.Gly4584=)
dbSNP ExAC gnomAD v2
19g.38572111C=CA2335088392RYR1c.775C=
c.2172C=
c.2144C=
c.13839C= (p.Gly4613=)
c.13824C= (p.Gly4608=)
c.13821C= (p.Gly4607=)
c.299C=
c.13806C= (p.Gly4602=)
c.13836C= (p.Gly4612=)
c.13752C= (p.Gly4584=)
19g.38572111C>GCA507356015RYR1c.775C>G
c.2172C>G
c.2144C>G
c.13839C>G (p.Gly4613=)
c.13824C>G (p.Gly4608=)
c.13821C>G (p.Gly4607=)
c.299C>G
c.13806C>G (p.Gly4602=)
c.13836C>G (p.Gly4612=)
c.13752C>G (p.Gly4584=)
19g.38572111C>TCA507356013RYR1c.775C>T
c.2172C>T
c.2144C>T
c.13839C>T (p.Gly4613=)
c.13824C>T (p.Gly4608=)
c.13821C>T (p.Gly4607=)
c.299C>T
c.13806C>T (p.Gly4602=)
c.13836C>T (p.Gly4612=)
c.13752C>T (p.Gly4584=)
gnomAD v4
19g.38572112T>ACA405680537RYR1c.776T>A
c.2173T>A
c.2145T>A
c.13840T>A (p.Leu4614Met)
c.13825T>A (p.Leu4609Met)
c.13822T>A (p.Leu4608Met)
c.300T>A
c.13807T>A (p.Leu4603Met)
c.13837T>A (p.Leu4613Met)
c.13753T>A (p.Leu4585Met)
19g.38572112T>CCA507356018RYR1c.776T>C
c.2173T>C
c.2145T>C
c.13840T>C (p.Leu4614=)
c.13825T>C (p.Leu4609=)
c.13822T>C (p.Leu4608=)
c.300T>C
c.13807T>C (p.Leu4603=)
c.13837T>C (p.Leu4613=)
c.13753T>C (p.Leu4585=)
dbSNP gnomAD v2
19g.38572112T>GCA405680538RYR1c.776T>G
c.2173T>G
c.2145T>G
c.13840T>G (p.Leu4614Val)
c.13825T>G (p.Leu4609Val)
c.13822T>G (p.Leu4608Val)
c.300T>G
c.13807T>G (p.Leu4603Val)
c.13837T>G (p.Leu4613Val)
c.13753T>G (p.Leu4585Val)
gnomAD v4
19g.38572112T=CA2335088393RYR1c.776T=
c.2173T=
c.2145T=
c.13840T= (p.Leu4614=)
c.13825T= (p.Leu4609=)
c.13822T= (p.Leu4608=)
c.300T=
c.13807T= (p.Leu4603=)
c.13837T= (p.Leu4613=)
c.13753T= (p.Leu4585=)
19g.38572113T>ACA405680541RYR1c.777T>A
c.2174T>A
c.2146T>A
c.13841T>A (p.Leu4614Ter)
c.13826T>A (p.Leu4609Ter)
c.13823T>A (p.Leu4608Ter)
c.301T>A
c.13808T>A (p.Leu4603Ter)
c.13838T>A (p.Leu4613Ter)
c.13754T>A (p.Leu4585Ter)
19g.38572113T>CCA405680540RYR1c.777T>C
c.2174T>C
c.2146T>C
c.13841T>C (p.Leu4614Ser)
c.13826T>C (p.Leu4609Ser)
c.13823T>C (p.Leu4608Ser)
c.301T>C
c.13808T>C (p.Leu4603Ser)
c.13838T>C (p.Leu4613Ser)
c.13754T>C (p.Leu4585Ser)
19g.38572113T>GCA405680539RYR1c.777T>G
c.2174T>G
c.2146T>G
c.13841T>G (p.Leu4614Trp)
c.13826T>G (p.Leu4609Trp)
c.13823T>G (p.Leu4608Trp)
c.301T>G
c.13808T>G (p.Leu4603Trp)
c.13838T>G (p.Leu4613Trp)
c.13754T>G (p.Leu4585Trp)
19g.38572114G>ACA081016RYR1c.778G>A
c.2175G>A
c.2147G>A
c.13842G>A (p.Leu4614=)
c.13827G>A (p.Leu4609=)
c.13824G>A (p.Leu4608=)
c.302G>A
c.13809G>A (p.Leu4603=)
c.13839G>A (p.Leu4613=)
c.13755G>A (p.Leu4585=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38572114G>CCA405680542RYR1c.778G>C
c.2175G>C
c.2147G>C
c.13842G>C (p.Leu4614Phe)
c.13827G>C (p.Leu4609Phe)
c.13824G>C (p.Leu4608Phe)
c.302G>C
c.13809G>C (p.Leu4603Phe)
c.13839G>C (p.Leu4613Phe)
c.13755G>C (p.Leu4585Phe)
19g.38572114G=CA2335088394RYR1c.778G=
c.2175G=
c.2147G=
c.13842G= (p.Leu4614=)
c.13827G= (p.Leu4609=)
c.13824G= (p.Leu4608=)
c.302G=
c.13809G= (p.Leu4603=)
c.13839G= (p.Leu4613=)
c.13755G= (p.Leu4585=)
19g.38572114G>TCA060587RYR1c.778G>T
c.2175G>T
c.2147G>T
c.13842G>T (p.Leu4614Phe)
c.13827G>T (p.Leu4609Phe)
c.13824G>T (p.Leu4608Phe)
c.302G>T
c.13809G>T (p.Leu4603Phe)
c.13839G>T (p.Leu4613Phe)
c.13755G>T (p.Leu4585Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38572115G>ACA405680546RYR1c.779G>A
c.2176G>A
c.2148G>A
c.13843G>A (p.Gly4615Arg)
c.13828G>A (p.Gly4610Arg)
c.13825G>A (p.Gly4609Arg)
c.303G>A
c.13810G>A (p.Gly4604Arg)
c.13840G>A (p.Gly4614Arg)
c.13756G>A (p.Gly4586Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38572115G>CCA405680550RYR1c.779G>C
c.2176G>C
c.2148G>C
c.13843G>C (p.Gly4615Arg)
c.13828G>C (p.Gly4610Arg)
c.13825G>C (p.Gly4609Arg)
c.303G>C
c.13810G>C (p.Gly4604Arg)
c.13840G>C (p.Gly4614Arg)
c.13756G>C (p.Gly4586Arg)
19g.38572115G=CA2335088395RYR1c.779G=
c.2176G=
c.2148G=
c.13843G= (p.Gly4615=)
c.13828G= (p.Gly4610=)
c.13825G= (p.Gly4609=)
c.303G=
c.13810G= (p.Gly4604=)
c.13840G= (p.Gly4614=)
c.13756G= (p.Gly4586=)
19g.38572115G>TCA405680551RYR1c.779G>T
c.2176G>T
c.2148G>T
c.13843G>T (p.Gly4615Trp)
c.13828G>T (p.Gly4610Trp)
c.13825G>T (p.Gly4609Trp)
c.303G>T
c.13810G>T (p.Gly4604Trp)
c.13840G>T (p.Gly4614Trp)
c.13756G>T (p.Gly4586Trp)
19g.38572116G>ACA405680558RYR1c.780G>A
c.2177G>A
c.2149G>A
c.13844G>A (p.Gly4615Glu)
c.13829G>A (p.Gly4610Glu)
c.13826G>A (p.Gly4609Glu)
c.304G>A
c.13811G>A (p.Gly4604Glu)
c.13841G>A (p.Gly4614Glu)
c.13757G>A (p.Gly4586Glu)
19g.38572116G>CCA405680556RYR1c.780G>C
c.2177G>C
c.2149G>C
c.13844G>C (p.Gly4615Ala)
c.13829G>C (p.Gly4610Ala)
c.13826G>C (p.Gly4609Ala)
c.304G>C
c.13811G>C (p.Gly4604Ala)
c.13841G>C (p.Gly4614Ala)
c.13757G>C (p.Gly4586Ala)
19g.38572116G>TCA405680555RYR1c.780G>T
c.2177G>T
c.2149G>T
c.13844G>T (p.Gly4615Val)
c.13829G>T (p.Gly4610Val)
c.13826G>T (p.Gly4609Val)
c.304G>T
c.13811G>T (p.Gly4604Val)
c.13841G>T (p.Gly4614Val)
c.13757G>T (p.Gly4586Val)
19g.38572117G>ACA081017RYR1c.781G>A
c.2178G>A
c.2150G>A
c.13845G>A (p.Gly4615=)
c.13830G>A (p.Gly4610=)
c.13827G>A (p.Gly4609=)
c.305G>A
c.13812G>A (p.Gly4604=)
c.13842G>A (p.Gly4614=)
c.13758G>A (p.Gly4586=)
19g.38572117G>CCA507356024RYR1c.781G>C
c.2178G>C
c.2150G>C
c.13845G>C (p.Gly4615=)
c.13830G>C (p.Gly4610=)
c.13827G>C (p.Gly4609=)
c.305G>C
c.13812G>C (p.Gly4604=)
c.13842G>C (p.Gly4614=)
c.13758G>C (p.Gly4586=)
19g.38572117G>TCA081018RYR1c.781G>T
c.2178G>T
c.2150G>T
c.13845G>T (p.Gly4615=)
c.13830G>T (p.Gly4610=)
c.13827G>T (p.Gly4609=)
c.305G>T
c.13812G>T (p.Gly4604=)
c.13842G>T (p.Gly4614=)
c.13758G>T (p.Gly4586=)
19g.38572118G>ACA405680560RYR1c.782G>A
c.2179G>A
c.2151G>A
c.13846G>A (p.Ala4616Thr)
c.13831G>A (p.Ala4611Thr)
c.13828G>A (p.Ala4610Thr)
c.306G>A
c.13813G>A (p.Ala4605Thr)
c.13843G>A (p.Ala4615Thr)
c.13759G>A (p.Ala4587Thr)
COSMIC
19g.38572118G>CCA405680562RYR1c.782G>C
c.2179G>C
c.2151G>C
c.13846G>C (p.Ala4616Pro)
c.13831G>C (p.Ala4611Pro)
c.13828G>C (p.Ala4610Pro)
c.306G>C
c.13813G>C (p.Ala4605Pro)
c.13843G>C (p.Ala4615Pro)
c.13759G>C (p.Ala4587Pro)
19g.38572118G=CA2335088396RYR1c.782G=
c.2179G=
c.2151G=
c.13846G= (p.Ala4616=)
c.13831G= (p.Ala4611=)
c.13828G= (p.Ala4610=)
c.306G=
c.13813G= (p.Ala4605=)
c.13843G= (p.Ala4615=)
c.13759G= (p.Ala4587=)
19g.38572118G>TCA060592RYR1c.782G>T
c.2179G>T
c.2151G>T
c.13846G>T (p.Ala4616Ser)
c.13831G>T (p.Ala4611Ser)
c.13828G>T (p.Ala4610Ser)
c.306G>T
c.13813G>T (p.Ala4605Ser)
c.13843G>T (p.Ala4615Ser)
c.13759G>T (p.Ala4587Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.38572118_38572119delCA2584910037RYR1c.782_783del
c.2179_2180del
c.2151_2152del
c.13846_13847del (p.Ala4616ArgfsTer8)
c.13831_13832del (p.Ala4611ArgfsTer8)
c.13828_13829del (p.Ala4610ArgfsTer8)
c.306_307del
c.13813_13814del (p.Ala4605ArgfsTer8)
c.13843_13844del (p.Ala4615ArgfsTer8)
c.13759_13760del (p.Ala4587ArgfsTer8)
gnomAD v4
19g.38572119C>ACA060596RYR1c.783C>A
c.2180C>A
c.2152C>A
c.13847C>A (p.Ala4616Asp)
c.13832C>A (p.Ala4611Asp)
c.13829C>A (p.Ala4610Asp)
c.307C>A
c.13814C>A (p.Ala4605Asp)
c.13844C>A (p.Ala4615Asp)
c.13760C>A (p.Ala4587Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38572119C=CA2335088397RYR1c.783C=
c.2180C=
c.2152C=
c.13847C= (p.Ala4616=)
c.13832C= (p.Ala4611=)
c.13829C= (p.Ala4610=)
c.307C=
c.13814C= (p.Ala4605=)
c.13844C= (p.Ala4615=)
c.13760C= (p.Ala4587=)
19g.38572119C>GCA060601RYR1c.783C>G
c.2180C>G
c.2152C>G
c.13847C>G (p.Ala4616Gly)
c.13832C>G (p.Ala4611Gly)
c.13829C>G (p.Ala4610Gly)
c.307C>G
c.13814C>G (p.Ala4605Gly)
c.13844C>G (p.Ala4615Gly)
c.13760C>G (p.Ala4587Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.38572119C>TCA405680568RYR1c.783C>T
c.2180C>T
c.2152C>T
c.13847C>T (p.Ala4616Val)
c.13832C>T (p.Ala4611Val)
c.13829C>T (p.Ala4610Val)
c.307C>T
c.13814C>T (p.Ala4605Val)
c.13844C>T (p.Ala4615Val)
c.13760C>T (p.Ala4587Val)
dbSNP gnomAD v2 gnomAD v4
19g.38572120C>ACA507356027RYR1c.784C>A
c.2181C>A
c.2153C>A
c.13848C>A (p.Ala4616=)
c.13833C>A (p.Ala4611=)
c.13830C>A (p.Ala4610=)
c.308C>A
c.13815C>A (p.Ala4605=)
c.13845C>A (p.Ala4615=)
c.13761C>A (p.Ala4587=)
19g.38572120C=CA2335088398RYR1c.784C=
c.2181C=
c.2153C=
c.13848C= (p.Ala4616=)
c.13833C= (p.Ala4611=)
c.13830C= (p.Ala4610=)
c.308C=
c.13815C= (p.Ala4605=)
c.13845C= (p.Ala4615=)
c.13761C= (p.Ala4587=)
19g.38572120C>GCA507356028RYR1c.784C>G
c.2181C>G
c.2153C>G
c.13848C>G (p.Ala4616=)
c.13833C>G (p.Ala4611=)
c.13830C>G (p.Ala4610=)
c.308C>G
c.13815C>G (p.Ala4605=)
c.13845C>G (p.Ala4615=)
c.13761C>G (p.Ala4587=)
gnomAD v4
19g.38572120C>TCA507356030RYR1c.784C>T
c.2181C>T
c.2153C>T
c.13848C>T (p.Ala4616=)
c.13833C>T (p.Ala4611=)
c.13830C>T (p.Ala4610=)
c.308C>T
c.13815C>T (p.Ala4605=)
c.13845C>T (p.Ala4615=)
c.13761C>T (p.Ala4587=)
ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
19g.38572121G>ACA060602RYR1c.785G>A
c.2182G>A
c.2154G>A
c.13849G>A (p.Gly4617Arg)
c.13834G>A (p.Gly4612Arg)
c.13831G>A (p.Gly4611Arg)
c.309G>A
c.13816G>A (p.Gly4606Arg)
c.13846G>A (p.Gly4616Arg)
c.13762G>A (p.Gly4588Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38572121G>CCA405680576RYR1c.785G>C
c.2182G>C
c.2154G>C
c.13849G>C (p.Gly4617Arg)
c.13834G>C (p.Gly4612Arg)
c.13831G>C (p.Gly4611Arg)
c.309G>C
c.13816G>C (p.Gly4606Arg)
c.13846G>C (p.Gly4616Arg)
c.13762G>C (p.Gly4588Arg)
gnomAD v4
19g.38572121G=CA2335088399RYR1c.785G=
c.2182G=
c.2154G=
c.13849G= (p.Gly4617=)
c.13834G= (p.Gly4612=)
c.13831G= (p.Gly4611=)
c.309G=
c.13816G= (p.Gly4606=)
c.13846G= (p.Gly4616=)
c.13762G= (p.Gly4588=)
19g.38572121G>TCA081019RYR1c.785G>T
c.2182G>T
c.2154G>T
c.13849G>T (p.Gly4617Ter)
c.13834G>T (p.Gly4612Ter)
c.13831G>T (p.Gly4611Ter)
c.309G>T
c.13816G>T (p.Gly4606Ter)
c.13846G>T (p.Gly4616Ter)
c.13762G>T (p.Gly4588Ter)
19g.38572122G>ACA405680578RYR1c.786G>A
c.2183G>A
c.2155G>A
c.13850G>A (p.Gly4617Glu)
c.13835G>A (p.Gly4612Glu)
c.13832G>A (p.Gly4611Glu)
c.310G>A
c.13817G>A (p.Gly4606Glu)
c.13847G>A (p.Gly4616Glu)
c.13763G>A (p.Gly4588Glu)
ClinVar
19g.38572122G>CCA405680582RYR1c.786G>C
c.2183G>C
c.2155G>C
c.13850G>C (p.Gly4617Ala)
c.13835G>C (p.Gly4612Ala)
c.13832G>C (p.Gly4611Ala)
c.310G>C
c.13817G>C (p.Gly4606Ala)
c.13847G>C (p.Gly4616Ala)
c.13763G>C (p.Gly4588Ala)
19g.38572122G>TCA405680590RYR1c.786G>T
c.2183G>T
c.2155G>T
c.13850G>T (p.Gly4617Val)
c.13835G>T (p.Gly4612Val)
c.13832G>T (p.Gly4611Val)
c.310G>T
c.13817G>T (p.Gly4606Val)
c.13847G>T (p.Gly4616Val)
c.13763G>T (p.Gly4588Val)
19g.38572123A=CA2335088400RYR1c.787A=
c.2184A=
c.2156A=
c.13851A= (p.Gly4617=)
c.13836A= (p.Gly4612=)
c.13833A= (p.Gly4611=)
c.311A=
c.13818A= (p.Gly4606=)
c.13848A= (p.Gly4616=)
c.13764A= (p.Gly4588=)
19g.38572123A>CCA507356038RYR1c.787A>C
c.2184A>C
c.2156A>C
c.13851A>C (p.Gly4617=)
c.13836A>C (p.Gly4612=)
c.13833A>C (p.Gly4611=)
c.311A>C
c.13818A>C (p.Gly4606=)
c.13848A>C (p.Gly4616=)
c.13764A>C (p.Gly4588=)
19g.38572123A>GCA024072RYR1c.787A>G
c.2184A>G
c.2156A>G
c.13851A>G (p.Gly4617=)
c.13836A>G (p.Gly4612=)
c.13833A>G (p.Gly4611=)
c.311A>G
c.13818A>G (p.Gly4606=)
c.13848A>G (p.Gly4616=)
c.13764A>G (p.Gly4588=)
ClinVar dbSNP
19g.38572123A>TCA507356039RYR1c.787A>T
c.2184A>T
c.2156A>T
c.13851A>T (p.Gly4617=)
c.13836A>T (p.Gly4612=)
c.13833A>T (p.Gly4611=)
c.311A>T
c.13818A>T (p.Gly4606=)
c.13848A>T (p.Gly4616=)
c.13764A>T (p.Gly4588=)
19g.38572124G>ACA081022RYR1c.788G>A
c.2185G>A
c.2157G>A
c.13852G>A (p.Glu4618Lys)
c.13837G>A (p.Glu4613Lys)
c.13834G>A (p.Glu4612Lys)
c.312G>A
c.13819G>A (p.Glu4607Lys)
c.13849G>A (p.Glu4617Lys)
c.13765G>A (p.Glu4589Lys)
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38572124G>CCA405680596RYR1c.788G>C
c.2185G>C
c.2157G>C
c.13852G>C (p.Glu4618Gln)
c.13837G>C (p.Glu4613Gln)
c.13834G>C (p.Glu4612Gln)
c.312G>C
c.13819G>C (p.Glu4607Gln)
c.13849G>C (p.Glu4617Gln)
c.13765G>C (p.Glu4589Gln)
19g.38572124G=CA2335088401RYR1c.788G=
c.2185G=
c.2157G=
c.13852G= (p.Glu4618=)
c.13837G= (p.Glu4613=)
c.13834G= (p.Glu4612=)
c.312G=
c.13819G= (p.Glu4607=)
c.13849G= (p.Glu4617=)
c.13765G= (p.Glu4589=)
19g.38572124G>TCA405680597RYR1c.788G>T
c.2185G>T
c.2157G>T
c.13852G>T (p.Glu4618Ter)
c.13837G>T (p.Glu4613Ter)
c.13834G>T (p.Glu4612Ter)
c.312G>T
c.13819G>T (p.Glu4607Ter)
c.13849G>T (p.Glu4617Ter)
c.13765G>T (p.Glu4589Ter)
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.38572125A>CCA405680598RYR1c.789A>C
c.2186A>C
c.2158A>C
c.13853A>C (p.Glu4618Ala)
c.13838A>C (p.Glu4613Ala)
c.13835A>C (p.Glu4612Ala)
c.313A>C
c.13820A>C (p.Glu4607Ala)
c.13850A>C (p.Glu4617Ala)
c.13766A>C (p.Glu4589Ala)
19g.38572125A>GCA405680600RYR1c.789A>G
c.2186A>G
c.2158A>G
c.13853A>G (p.Glu4618Gly)
c.13838A>G (p.Glu4613Gly)
c.13835A>G (p.Glu4612Gly)
c.313A>G
c.13820A>G (p.Glu4607Gly)
c.13850A>G (p.Glu4617Gly)
c.13766A>G (p.Glu4589Gly)
19g.38572125A>TCA405680601RYR1c.789A>T
c.2186A>T
c.2158A>T
c.13853A>T (p.Glu4618Val)
c.13838A>T (p.Glu4613Val)
c.13835A>T (p.Glu4612Val)
c.313A>T
c.13820A>T (p.Glu4607Val)
c.13850A>T (p.Glu4617Val)
c.13766A>T (p.Glu4589Val)
19g.38572126G>ACA507356046RYR1c.790G>A
c.2187G>A
c.2159G>A
c.13854G>A (p.Glu4618=)
c.13839G>A (p.Glu4613=)
c.13836G>A (p.Glu4612=)
c.314G>A
c.13821G>A (p.Glu4607=)
c.13851G>A (p.Glu4617=)
c.13767G>A (p.Glu4589=)
19g.38572126G>CCA405680603RYR1c.790G>C
c.2187G>C
c.2159G>C
c.13854G>C (p.Glu4618Asp)
c.13839G>C (p.Glu4613Asp)
c.13836G>C (p.Glu4612Asp)
c.314G>C
c.13821G>C (p.Glu4607Asp)
c.13851G>C (p.Glu4617Asp)
c.13767G>C (p.Glu4589Asp)
19g.38572126G>TCA405680604RYR1c.790G>T
c.2187G>T
c.2159G>T
c.13854G>T (p.Glu4618Asp)
c.13839G>T (p.Glu4613Asp)
c.13836G>T (p.Glu4612Asp)
c.314G>T
c.13821G>T (p.Glu4607Asp)
c.13851G>T (p.Glu4617Asp)
c.13767G>T (p.Glu4589Asp)
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)

Number of alleles fetched