Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.38572071_38572110del | CA2814348012 | RYR1 | c.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?) | |
19 | g.38572085_38572097delinsGGCTCTGGTGGCA | CA2335088380 | RYR1 | c.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=) | |
19 | g.38572093_38572104del | CA081012 | RYR1 | c.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 |
19 | g.38572089C>A | CA405680480 | RYR1 | c.753C>A c.2150C>A c.2122C>A c.13817C>A (p.Ser4606Tyr) c.13802C>A (p.Ser4601Tyr) c.13799C>A (p.Ser4600Tyr) c.277C>A c.13784C>A (p.Ser4595Tyr) c.13814C>A (p.Ser4605Tyr) c.13730C>A (p.Ser4577Tyr) | |
19 | g.38572089C= | CA2335088384 | RYR1 | c.753C= c.2150C= c.2122C= c.13817C= (p.Ser4606=) c.13802C= (p.Ser4601=) c.13799C= (p.Ser4600=) c.277C= c.13784C= (p.Ser4595=) c.13814C= (p.Ser4605=) c.13730C= (p.Ser4577=) | |
19 | g.38572089C>G | CA405680483 | RYR1 | c.753C>G c.2150C>G c.2122C>G c.13817C>G (p.Ser4606Cys) c.13802C>G (p.Ser4601Cys) c.13799C>G (p.Ser4600Cys) c.277C>G c.13784C>G (p.Ser4595Cys) c.13814C>G (p.Ser4605Cys) c.13730C>G (p.Ser4577Cys) | |
19 | g.38572089C>T | CA405680484 | RYR1 | c.753C>T c.2150C>T c.2122C>T c.13817C>T (p.Ser4606Phe) c.13802C>T (p.Ser4601Phe) c.13799C>T (p.Ser4600Phe) c.277C>T c.13784C>T (p.Ser4595Phe) c.13814C>T (p.Ser4605Phe) c.13730C>T (p.Ser4577Phe) | dbSNP |
19 | g.38572090T>A | CA507355984 | RYR1 | c.754T>A c.2151T>A c.2123T>A c.13818T>A (p.Ser4606=) c.13803T>A (p.Ser4601=) c.13800T>A (p.Ser4600=) c.278T>A c.13785T>A (p.Ser4595=) c.13815T>A (p.Ser4605=) c.13731T>A (p.Ser4577=) | |
19 | g.38572090T>C | CA507355982 | RYR1 | c.754T>C c.2151T>C c.2123T>C c.13818T>C (p.Ser4606=) c.13803T>C (p.Ser4601=) c.13800T>C (p.Ser4600=) c.278T>C c.13785T>C (p.Ser4595=) c.13815T>C (p.Ser4605=) c.13731T>C (p.Ser4577=) | |
19 | g.38572090T>G | CA507355983 | RYR1 | c.754T>G c.2151T>G c.2123T>G c.13818T>G (p.Ser4606=) c.13803T>G (p.Ser4601=) c.13800T>G (p.Ser4600=) c.278T>G c.13785T>G (p.Ser4595=) c.13815T>G (p.Ser4605=) c.13731T>G (p.Ser4577=) | |
19 | g.38572091G>A | CA405680485 | RYR1 | c.755G>A c.2152G>A c.2124G>A c.13819G>A (p.Gly4607Ser) c.13804G>A (p.Gly4602Ser) c.13801G>A (p.Gly4601Ser) c.279G>A c.13786G>A (p.Gly4596Ser) c.13816G>A (p.Gly4606Ser) c.13732G>A (p.Gly4578Ser) | |
19 | g.38572091G>C | CA405680486 | RYR1 | c.755G>C c.2152G>C c.2124G>C c.13819G>C (p.Gly4607Arg) c.13804G>C (p.Gly4602Arg) c.13801G>C (p.Gly4601Arg) c.279G>C c.13786G>C (p.Gly4596Arg) c.13816G>C (p.Gly4606Arg) c.13732G>C (p.Gly4578Arg) | |
19 | g.38572091G>T | CA405680487 | RYR1 | c.755G>T c.2152G>T c.2124G>T c.13819G>T (p.Gly4607Cys) c.13804G>T (p.Gly4602Cys) c.13801G>T (p.Gly4601Cys) c.279G>T c.13786G>T (p.Gly4596Cys) c.13816G>T (p.Gly4606Cys) c.13732G>T (p.Gly4578Cys) | |
19 | g.38572092G>A | CA405680488 | RYR1 | c.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) | |
19 | g.38572092G>C | CA405680490 | RYR1 | c.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) | |
19 | g.38572092G>T | CA405680489 | RYR1 | c.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) | |
19 | g.38572093T>A | CA507355985 | RYR1 | c.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=) | |
19 | g.38572093T>C | CA507355986 | RYR1 | c.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=) | |
19 | g.38572093T>G | CA507355987 | RYR1 | c.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=) | |
19 | g.38572094G>A | CA405680491 | RYR1 | c.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) | |
19 | g.38572094G>C | CA405680492 | RYR1 | c.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) | |
19 | g.38572094G>T | CA405680493 | RYR1 | c.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 |
19 | g.38572095G>A | CA405680494 | RYR1 | c.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) | |
19 | g.38572095G>C | CA405680495 | RYR1 | c.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) | |
19 | g.38572095G= | CA2335088385 | RYR1 | c.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=) | |
19 | g.38572095G>T | CA405680496 | RYR1 | c.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) | |
19 | g.38572095_38572096insAGAGTCTGAGAC | CA920105608 | RYR1 | c.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 |
19 | g.38572096C>A | CA507355988 | RYR1 | c.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=) | |
19 | g.38572096C= | CA2335088386 | RYR1 | c.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=) | |
19 | g.38572096C>G | CA507355989 | RYR1 | c.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=) | |
19 | g.38572096C>T | CA507355990 | RYR1 | c.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 |
19 | g.38572097A>C | CA405680497 | RYR1 | c.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) | |
19 | g.38572097A>G | CA405680498 | RYR1 | c.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 |
19 | g.38572097A>T | CA405680499 | RYR1 | c.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) | |
19 | g.38572098G>A | CA060566 | RYR1 | c.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 |
19 | g.38572098G>C | CA405680500 | RYR1 | c.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) | |
19 | g.38572098G= | CA2335088387 | RYR1 | c.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=) | |
19 | g.38572098G>T | CA405680501 | RYR1 | c.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 |
19 | g.38572099C>A | CA405680502 | RYR1 | c.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) | |
19 | g.38572099C>G | CA405680503 | RYR1 | c.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) | |
19 | g.38572099C>T | CA507355992 | RYR1 | c.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=) | |
19 | g.38572100T>A | CA405680504 | RYR1 | c.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) | |
19 | g.38572100T>C | CA405680506 | RYR1 | c.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) | |
19 | g.38572100T>G | CA405680505 | RYR1 | c.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) | |
19 | g.38572101C>A | CA405680507 | RYR1 | c.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) | |
19 | g.38572101C= | CA2335088388 | RYR1 | c.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=) | |
19 | g.38572101C>G | CA405680508 | RYR1 | c.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 |
19 | g.38572101C>T | CA405680509 | RYR1 | c.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) | |
19 | g.38572102T>A | CA507355993 | RYR1 | c.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=) | |
19 | g.38572102T>C | CA507355994 | RYR1 | c.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=) | |
19 | g.38572102T>G | CA507355996 | RYR1 | c.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=) | |
19 | g.38572103G>A | CA405680510 | RYR1 | c.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) | |
19 | g.38572103G>C | CA405680511 | RYR1 | c.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) | |
19 | g.38572103G>T | CA405680512 | RYR1 | c.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) | |
19 | g.38572104G>A | CA405680513 | RYR1 | c.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 |
19 | g.38572104G>C | CA405680514 | RYR1 | c.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 |
19 | g.38572104G>T | CA405680517 | RYR1 | c.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) | |
19 | g.38572105C>A | CA507355999 | RYR1 | c.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=) | |
19 | g.38572105C>G | CA507356000 | RYR1 | c.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 |
19 | g.38572105C>T | CA507356002 | RYR1 | c.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=) | |
19 | g.38572106T>A | CA405680518 | RYR1 | c.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) | |
19 | g.38572106T>C | CA405680519 | RYR1 | c.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) | |
19 | g.38572106T>G | CA405680521 | RYR1 | c.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 |
19 | g.38572107G>A | CA060573 | RYR1 | c.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 |
19 | g.38572107G>C | CA405680523 | RYR1 | c.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) | |
19 | g.38572107G= | CA2335088389 | RYR1 | c.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=) | |
19 | g.38572107G>T | CA405680524 | RYR1 | c.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 |
19 | g.38572108G>A | CA405680529 | RYR1 | c.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 |
19 | g.38572108G>C | CA405680530 | RYR1 | c.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) | |
19 | g.38572108G= | CA2335088390 | RYR1 | c.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=) | |
19 | g.38572108G>T | CA405680531 | RYR1 | c.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) | |
19 | g.38572109G>A | CA405680532 | RYR1 | c.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 |
19 | g.38572109G>C | CA405680533 | RYR1 | c.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) | |
19 | g.38572109G>T | CA405680534 | RYR1 | c.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) | |
19 | g.38572110G>A | CA081015 | RYR1 | c.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) | |
19 | g.38572110G>C | CA405680535 | RYR1 | c.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 |
19 | g.38572110G= | CA2335088391 | RYR1 | c.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=) | |
19 | g.38572110G>T | CA405680536 | RYR1 | c.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) | |
19 | g.38572111C>A | CA060577 | RYR1 | c.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 |
19 | g.38572111C= | CA2335088392 | RYR1 | c.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=) | |
19 | g.38572111C>G | CA507356015 | RYR1 | c.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=) | |
19 | g.38572111C>T | CA507356013 | RYR1 | c.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 |
19 | g.38572112T>A | CA405680537 | RYR1 | c.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) | |
19 | g.38572112T>C | CA507356018 | RYR1 | c.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 |
19 | g.38572112T>G | CA405680538 | RYR1 | c.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 |
19 | g.38572112T= | CA2335088393 | RYR1 | c.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=) | |
19 | g.38572113T>A | CA405680541 | RYR1 | c.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) | |
19 | g.38572113T>C | CA405680540 | RYR1 | c.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) | |
19 | g.38572113T>G | CA405680539 | RYR1 | c.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) | |
19 | g.38572114G>A | CA081016 | RYR1 | c.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 |
19 | g.38572114G>C | CA405680542 | RYR1 | c.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) | |
19 | g.38572114G= | CA2335088394 | RYR1 | c.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=) | |
19 | g.38572114G>T | CA060587 | RYR1 | c.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 |
19 | g.38572118dup | CA2832578817 | RYR1 | c.782dup c.2179dup c.2151dup c.13846dup (p.Ala4616GlyfsTer9) c.13831dup (p.Ala4611GlyfsTer9) c.13828dup (p.Ala4610GlyfsTer9) c.306dup c.13813dup (p.Ala4605GlyfsTer9) c.13843dup (p.Ala4615GlyfsTer9) c.13759dup (p.Ala4587GlyfsTer9) | |
19 | g.38572118del | CA2843139572 | RYR1 | c.782del c.2179del c.2151del c.13846del (p.Ala4616ProfsTer?) c.13831del (p.Ala4611ProfsTer?) c.13828del (p.Ala4610ProfsTer?) c.306del c.13813del (p.Ala4605ProfsTer?) c.13843del (p.Ala4615ProfsTer?) c.13759del (p.Ala4587ProfsTer?) | |
19 | g.38572115G>A | CA405680546 | RYR1 | c.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 |
19 | g.38572115G>C | CA405680550 | RYR1 | c.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) | |
19 | g.38572115G= | CA2335088395 | RYR1 | c.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=) | |
19 | g.38572115G>T | CA405680551 | RYR1 | c.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) | |
19 | g.38572116G>A | CA405680558 | RYR1 | c.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) | |
19 | g.38572116G>C | CA405680556 | RYR1 | c.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) | |
19 | g.38572116G>T | CA405680555 | RYR1 | c.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) | |
19 | g.38572117G>A | CA081017 | RYR1 | c.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=) | |
19 | g.38572117G>C | CA507356024 | RYR1 | c.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=) | |
19 | g.38572117G>T | CA081018 | RYR1 | c.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=) | |
19 | g.38572118G>A | CA405680560 | RYR1 | c.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 |
19 | g.38572118G>C | CA405680562 | RYR1 | c.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) | |
19 | g.38572118G= | CA2335088396 | RYR1 | c.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=) | |
19 | g.38572118G>T | CA060592 | RYR1 | c.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 |
19 | g.38572118_38572119del | CA2584910037 | RYR1 | c.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 |
19 | g.38572119C>A | CA060596 | RYR1 | c.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 |
19 | g.38572119C= | CA2335088397 | RYR1 | c.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=) | |
19 | g.38572119C>G | CA060601 | RYR1 | c.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 |
19 | g.38572119C>T | CA405680568 | RYR1 | c.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 |
19 | g.38572120C>A | CA507356027 | RYR1 | c.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=) | |
19 | g.38572120C= | CA2335088398 | RYR1 | c.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=) | |
19 | g.38572120C>G | CA507356028 | RYR1 | c.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 |
19 | g.38572120C>T | CA507356030 | RYR1 | c.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 |
19 | g.38572121G>A | CA060602 | RYR1 | c.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 |
19 | g.38572121G>C | CA405680576 | RYR1 | c.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 |
19 | g.38572121G= | CA2335088399 | RYR1 | c.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=) | |
19 | g.38572121G>T | CA081019 | RYR1 | c.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) | |
19 | g.38572122G>A | CA405680578 | RYR1 | c.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 |
19 | g.38572122G>C | CA405680582 | RYR1 | c.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) | |
19 | g.38572122G>T | CA405680590 | RYR1 | c.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) | |
19 | g.38572123A= | CA2335088400 | RYR1 | c.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=) | |
19 | g.38572123A>C | CA507356038 | RYR1 | c.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=) | |
19 | g.38572123A>G | CA024072 | RYR1 | c.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 |
19 | g.38572123A>T | CA507356039 | RYR1 | c.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=) | |
19 | g.38572124G>A | CA081022 | RYR1 | c.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 |
19 | g.38572124G>C | CA405680596 | RYR1 | c.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) | |
19 | g.38572124G= | CA2335088401 | RYR1 | c.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=) | |
19 | g.38572124G>T | CA405680597 | RYR1 | c.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) | |
19 | g.38572128_38572130del | CA2584910038 | RYR1 | c.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 |
19 | g.38572125A>C | CA405680598 | RYR1 | c.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) | |
19 | g.38572125A>G | CA405680600 | RYR1 | c.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) | |
19 | g.38572125A>T | CA405680601 | RYR1 | c.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) | |
19 | g.38572126G>A | CA507356046 | RYR1 | c.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=) | |
19 | g.38572126G>C | CA405680603 | RYR1 | c.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) | |
19 | g.38572126G>T | CA405680604 | RYR1 | c.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) | |
19 | g.38572127G>A | CA405680617 | RYR1 | c.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) | |
19 | g.38572127G>C | CA405680609 | RYR1 | c.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) | |
19 | g.38572127G>T | CA405680606 | RYR1 | c.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) | |
19 | g.38572128A>C | CA405680626 | RYR1 | c.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) | |
19 | g.38572128A>G | CA405680627 | RYR1 | c.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) | |
19 | g.38572128A>T | CA405680628 | RYR1 | c.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) | |
19 | g.38572129G>A | CA507356053 | RYR1 | c.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 |
19 | g.38572129G>C | CA405680629 | RYR1 | c.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) | |
19 | g.38572129G= | CA2335088402 | RYR1 | c.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=) | |
19 | g.38572129G>T | CA405680631 | RYR1 | c.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) | |
19 | g.38572130G>A | CA405680657 | RYR1 | c.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 |
19 | g.38572130G>C | CA405680635 | RYR1 | c.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) | |
19 | g.38572130G= | CA2335088403 | RYR1 | c.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=) | |
19 | g.38572130G>T | CA405680634 | RYR1 | c.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 |
19 | g.38572131C>A | CA405680664 | RYR1 | c.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) | |
19 | g.38572131C= | CA2335088404 | RYR1 | c.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=) | |
19 | g.38572131C>G | CA405680665 | RYR1 | c.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 |
19 | g.38572131C>T | CA405680666 | RYR1 | c.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 |
19 | g.38572131_38572134dup | CA2584910039 | RYR1 | c.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 |
19 | g.38572132A>C | CA507356057 | RYR1 | c.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=) | |
19 | g.38572132A>G | CA507356059 | RYR1 | c.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=) | |
19 | g.38572132A>T | CA507356060 | RYR1 | c.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 |
19 | g.38572133G>A | CA405680675 | RYR1 | c.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 |
19 | g.38572133G>C | CA405680677 | RYR1 | c.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) | |
19 | g.38572133G>T | CA405680688 | RYR1 | c.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) | |
19 | g.38572134A>C | CA405680696 | RYR1 | c.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) | |
19 | g.38572134A>G | CA405680691 | RYR1 | c.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) | |
19 | g.38572134A>T | CA405680694 | RYR1 | c.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) | |
19 | g.38572135G>A | CA060605 | RYR1 | c.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 |
19 | g.38572135G>C | CA405680706 | RYR1 | c.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) | |
19 | g.38572135G= | CA2335088405 | RYR1 | c.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=) | |
19 | g.38572135G>T | CA405680707 | RYR1 | c.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) | |
19 | g.38572136G>A | CA405680712 | RYR1 | c.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 |
19 | g.38572136G>C | CA405680721 | RYR1 | c.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) | |
19 | g.38572136G>T | CA405680724 | RYR1 | c.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) | |
19 | g.38572137G>A | CA405680725 | RYR1 | c.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 |
19 | g.38572137G>C | CA060615 | RYR1 | c.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 |
19 | g.38572137G= | CA2335088406 | RYR1 | c.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=) | |
19 | g.38572137G>T | CA405680726 | RYR1 | c.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) | |
19 | g.38572138C>A | CA507356072 | RYR1 | c.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=) | |
19 | g.38572138C= | CA2335088407 | RYR1 | c.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=) | |
19 | g.38572138C>G | CA507356073 | RYR1 | c.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=) | |
19 | g.38572138C>T | CA060620 | RYR1 | c.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 |
19 | g.38572139G>A | CA060622 | RYR1 | c.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 |
19 | g.38572139G>C | CA405680727 | RYR1 | c.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) | |
19 | g.38572139G= | CA2335088408 | RYR1 | c.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=) | |
19 | g.38572139G>T | CA405680728 | RYR1 | c.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) | |
19 | g.38572140A>C | CA405680737 | RYR1 | c.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) | |
19 | g.38572140A>G | CA405680731 | RYR1 | c.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) | |
19 | g.38572140A>T | CA405680734 | RYR1 | c.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) | |
19 | g.38572141T>A | CA405680738 | RYR1 | c.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) | |
19 | g.38572141T>C | CA507356083 | RYR1 | c.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=) | |
19 | g.38572141T>G | CA405680739 | RYR1 | c.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) | |
19 | g.38572142G>A | CA081026 | RYR1 | c.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) | |
19 | g.38572142G>C | CA405680740 | RYR1 | c.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) | |
19 | g.38572142G>T | CA405680742 | RYR1 | c.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) | |
19 | g.38572143A>C | CA405680743 | RYR1 | c.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) | |
19 | g.38572143A>G | CA405680746 | RYR1 | c.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) | |
19 | g.38572143A>T | CA405680750 | RYR1 | c.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) | |
19 | g.38572144G>A | CA507356092 | RYR1 | c.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=) | |
19 | g.38572144G>C | CA308114091 | RYR1 | c.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 |
19 | g.38572144G= | CA2335088409 | RYR1 | c.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=) | |
19 | g.38572144G>T | CA405680753 | RYR1 | c.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) | |
19 | g.38572145G>A | CA405680758 | RYR1 | c.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) | |
19 | g.38572145G>C | CA405680759 | RYR1 | c.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) | |
19 | g.38572145G>T | CA405680760 | RYR1 | c.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 |
19 | g.38572146A= | CA2335088410 | RYR1 | c.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=) | |
19 | g.38572146A>C | CA405680765 | RYR1 | c.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) | |
19 | g.38572146A>G | CA060624 | RYR1 | c.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 |
19 | g.38572146A>T | CA405680762 | RYR1 | c.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) | |
19 | g.38572147T>A | CA405680767 | RYR1 | c.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) | |
19 | g.38572147T>C | CA507356099 | RYR1 | c.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=) | |
19 | g.38572147T>G | CA405680770 | RYR1 | c.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) | |
19 | g.38572148G>A | CA405680772 | RYR1 | c.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 |
19 | g.38572148G>C | CA405680774 | RYR1 | c.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) | |
19 | g.38572148G= | CA2335088411 | RYR1 | c.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=) | |
19 | g.38572148G>T | CA405680776 | RYR1 | c.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) | |
19 | g.38572149A>C | CA405680779 | RYR1 | c.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) | |
19 | g.38572149A>G | CA081027 | RYR1 | c.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) | |
19 | g.38572149A>T | CA405680780 | RYR1 | c.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) | |
19 | g.38572150G>A | CA507356103 | RYR1 | c.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 |
19 | g.38572150G>C | CA405680783 | RYR1 | c.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 |
19 | g.38572150G>T | CA405680784 | RYR1 | c.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) | |
19 | g.38572151A>C | CA405680786 | RYR1 | c.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 |
19 | g.38572151A>G | CA405680788 | RYR1 | c.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) | |
19 | g.38572151A>T | CA405680790 | RYR1 | c.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) | |
19 | g.38572152A= | CA2335088412 | RYR1 | c.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=) | |
19 | g.38572152A>C | CA405680793 | RYR1 | c.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) | |
19 | g.38572152A>G | CA405680794 | RYR1 | c.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 |
19 | g.38572152A>T | CA405680792 | RYR1 | c.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) | |
19 | g.38572153C>A | CA405680796 | RYR1 | c.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) | |
19 | g.38572153C= | CA2335088413 | RYR1 | c.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=) | |
19 | g.38572153C>G | CA405680804 | RYR1 | c.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) | |
19 | g.38572153C>T | CA060628 | RYR1 | c.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 |
19 | g.38572154_38572168dup | CA658799220 | RYR1 | c.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 |
19 | g.38572154A>C | CA405680807 | RYR1 | c.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) | |
19 | g.38572154A>G | CA405680808 | RYR1 | c.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 |
19 | g.38572154A>T | CA405680809 | RYR1 | c.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 |
19 | g.38572155T>A | CA405680810 | RYR1 | c.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) | |
19 | g.38572155T>C | CA405680811 | RYR1 | c.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) | |
19 | g.38572155T>G | CA405680812 | RYR1 | c.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) | |
19 | g.38572156G>A | CA405680815 | RYR1 | c.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 |
19 | g.38572156G>C | CA405680817 | RYR1 | c.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) | |
19 | g.38572156G= | CA2335088414 | RYR1 | c.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=) | |
19 | g.38572156G>T | CA405680819 | RYR1 | c.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 |
19 | g.38572157G>A | CA060632 | RYR1 | c.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 |
19 | g.38572157G>C | CA405680823 | RYR1 | c.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) | |
19 | g.38572157G= | CA2335088415 | RYR1 | c.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=) | |
19 | g.38572157G>T | CA405680825 | RYR1 | c.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) | |
19 | g.38572158T>A | CA405680829 | RYR1 | c.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) | |
19 | g.38572158T>C | CA060633 | RYR1 | c.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 |
19 | g.38572158T>G | CA405680828 | RYR1 | c.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) | |
19 | g.38572158T= | CA2335088416 | RYR1 | c.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=) | |
19 | g.38572159G>A | CA507356116 | RYR1 | c.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 |
19 | g.38572159G>C | CA507356117 | RYR1 | c.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=) | |
19 | g.38572159G= | CA2335088417 | RYR1 | c.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=) | |
19 | g.38572159G>T | CA507356118 | RYR1 | c.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=) | |
19 | g.38572160T>A | CA405680833 | RYR1 | c.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) | |
19 | g.38572160T>C | CA405680834 | RYR1 | c.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) | |
19 | g.38572160T>G | CA405680837 | RYR1 | c.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) | |
19 | g.38572161A>C | CA405680840 | RYR1 | c.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) | |
19 | g.38572161A>G | CA405680842 | RYR1 | c.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) | |
19 | g.38572161A>T | CA405680844 | RYR1 | c.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) | |
19 | g.38572162C>A | CA405680846 | RYR1 | c.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) | |
19 | g.38572162C>G | CA405680847 | RYR1 | c.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) | |
19 | g.38572162C>T | CA507356123 | RYR1 | c.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=) | |
19 | g.38572163T>A | CA024074 | RYR1 | c.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 |
19 | g.38572163T>C | CA405680853 | RYR1 | c.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) | |
19 | g.38572163T>G | CA405680857 | RYR1 | c.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) | |
19 | g.38572163T= | CA2335088418 | RYR1 | c.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=) | |
19 | g.38572164A= | CA2335088419 | RYR1 | c.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=) | |
19 | g.38572164A>C | CA405680876 | RYR1 | c.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 |
19 | g.38572164A>G | CA405680883 | RYR1 | c.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 |
19 | g.38572164A>T | CA405680885 | RYR1 | c.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) | |
19 | g.38572165C>A | CA405680890 | RYR1 | c.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) | |
19 | g.38572165C= | CA2335088421 | RYR1 | c.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=) | |
19 | g.38572165C>G | CA405680893 | RYR1 | c.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 |
19 | g.38572165C>T | CA507356125 | RYR1 | c.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 |
19 | g.38572165_38572166delinsCT | CA2335088420 | RYR1 | c.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=) | |
19 | g.38572166T>A | CA405680894 | RYR1 | c.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) | |
19 | g.38572166T>C | CA405680895 | RYR1 | c.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) | |
19 | g.38572166T>G | CA405680896 | RYR1 | c.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 |
19 | g.38572166T= | CA2335088422 | RYR1 | c.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=) | |
19 | g.38572167del | CA916082462 | RYR1 | c.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 |
19 | g.38572167T>A | CA405680898 | RYR1 | c.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) | |
19 | g.38572167T>C | CA405680899 | RYR1 | c.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) | |
19 | g.38572167T>G | CA405680901 | RYR1 | c.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) | |
19 | g.38572168C>A | CA405680907 | RYR1 | c.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) | |
19 | g.38572168C>G | CA405680909 | RYR1 | c.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) | |
19 | g.38572168C>T | CA507356130 | RYR1 | c.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 |
19 | g.38572169C>A | CA405680913 | RYR1 | c.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) | |
19 | g.38572169C>G | CA405680916 | RYR1 | c.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) | |
19 | g.38572169C>T | CA507356132 | RYR1 | c.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=) | |
19 | g.38572170T>A | CA405680919 | RYR1 | c.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 |
19 | g.38572170T>C | CA405680920 | RYR1 | c.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 |
19 | g.38572170T>G | CA405680923 | RYR1 | c.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) | |
19 | g.38572170T= | CA2335088423 | RYR1 | c.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=) | |
19 | g.38572171G>A | CA507356133 | RYR1 | c.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 |
19 | g.38572171G>C | CA507356134 | RYR1 | c.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=) | |
19 | g.38572171G= | CA2335088424 | RYR1 | c.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=) | |
19 | g.38572171G>T | CA507356135 | RYR1 | c.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=) | |
19 | g.38572172G>A | CA024076 | RYR1 | c.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 |
19 | g.38572172G>C | CA405680937 | RYR1 | c.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) | |
19 | g.38572172G= | CA2335088425 | RYR1 | c.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=) | |
19 | g.38572172G>T | CA405680931 | RYR1 | c.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 |
19 | g.38572173A= | CA2335088426 | RYR1 | c.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=) | |
19 | g.38572173A>C | CA405680945 | RYR1 | c.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) | |
19 | g.38572173A>G | CA405680946 | RYR1 | c.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 |
19 | g.38572173A>T | CA060634 | RYR1 | c.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 |
19 | g.38572174G>A | CA507356136 | RYR1 | c.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=) | |
19 | g.38572174G>C | CA405680950 | RYR1 | c.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) | |
19 | g.38572174G>T | CA405680951 | RYR1 | c.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) | |
19 | g.38572175G>A | CA405680955 | RYR1 | c.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 |
19 | g.38572175G>C | CA405680952 | RYR1 | c.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) | |
19 | g.38572175G= | CA2335088427 | RYR1 | c.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=) | |
19 | g.38572175G>T | CA405680953 | RYR1 | c.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) | |
19 | g.38572176A= | CA2335088428 | RYR1 | c.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=) | |
19 | g.38572176A>C | CA405680958 | RYR1 | c.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) | |
19 | g.38572176A>G | CA405680961 | RYR1 | c.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 |
19 | g.38572176A>T | CA081031 | RYR1 | c.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 |
19 | g.38572177A>C | CA405680972 | RYR1 | c.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) | |
19 | g.38572177A>G | CA507356138 | RYR1 | c.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 |
19 | g.38572177A>T | CA405680974 | RYR1 | c.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) | |
19 | g.38572178A= | CA2335088429 | RYR1 | c.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=) | |
19 | g.38572178A>C | CA405680980 | RYR1 | c.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) | |
19 | g.38572178A>G | CA060639 | RYR1 | c.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 |
19 | g.38572178A>T | CA405680985 | RYR1 | c.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) | |
19 | g.38572179G>A | CA308114119 | RYR1 | c.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 |
19 | g.38572179G>C | CA405680996 | RYR1 | c.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) | |
19 | g.38572179G= | CA2335088430 | RYR1 | c.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=) | |
19 | g.38572179G>T | CA405680993 | RYR1 | c.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) | |
19 | g.38572180C>A | CA405680999 | RYR1 | c.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) | |
19 | g.38572180C>G | CA405681001 | RYR1 | c.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) | |
19 | g.38572180C>T | CA507356140 | RYR1 | c.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=) | |
19 | g.38572181A= | CA2335088431 | RYR1 | c.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=) | |
19 | g.38572181A>C | CA405681005 | RYR1 | c.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 |
19 | g.38572181A>G | CA024078 | RYR1 | c.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 |
19 | g.38572181A>T | CA405681013 | RYR1 | c.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) | |
19 | g.38572182C>A | CA405681016 | RYR1 | c.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) | |
19 | g.38572182C= | CA2335088432 | RYR1 | c.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=) | |
19 | g.38572182C>G | CA405681019 | RYR1 | c.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) | |
19 | g.38572182C>T | CA024080 | RYR1 | c.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 |
19 | g.38572183A>C | CA507356142 | RYR1 | c.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=) | |
19 | g.38572183A>G | CA507356143 | RYR1 | c.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 |
19 | g.38572183A>T | CA507356144 | RYR1 | c.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=) | |
19 | g.38572184G>A | CA024082 | RYR1 | c.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 |
19 | g.38572184G>C | CA405681030 | RYR1 | c.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) | |
19 | g.38572184G= | CA2335088433 | RYR1 | c.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=) | |
19 | g.38572184G>T | CA405681034 | RYR1 | c.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) | |
19 | g.38572185G>A | CA024084 | RYR1 | c.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 |
19 | g.38572185G>C | CA405681038 | RYR1 | c.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) | |
19 | g.38572185G= | CA2335088434 | RYR1 | c.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=) | |
19 | g.38572185G>T | CA405681040 | RYR1 | c.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) | |
19 | g.38572186C>A | CA507356148 | RYR1 | c.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=) | |
19 | g.38572186C>G | CA507356146 | RYR1 | c.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 |
19 | g.38572186C>T | CA507356145 | RYR1 | c.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=) | |
19 | g.38572187T>A | CA405681043 | RYR1 | c.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) | |
19 | g.38572187T>C | CA405681046 | RYR1 | c.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) | |
19 | g.38572187T>G | CA405681051 | RYR1 | c.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) | |
19 | g.38572188A>C | CA405681057 | RYR1 | c.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) | |
19 | g.38572188A>G | CA405681059 | RYR1 | c.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) | |
19 | g.38572188A>T | CA405681063 | RYR1 | c.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) | |
19 | g.38572189C>A | CA405681065 | RYR1 | c.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) | |
19 | g.38572189C>G | CA405681066 | RYR1 | c.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) | |
19 | g.38572189C>T | CA507356150 | RYR1 | c.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 |