| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38572084A>C | CA507355976 | RYR1 | c.748A>C c.2145A>C c.2117A>C c.13812A>C (p.Ala4604=) c.13797A>C (p.Ala4599=) c.13794A>C (p.Ala4598=) c.272A>C c.13779A>C (p.Ala4593=) c.13809A>C (p.Ala4603=) c.13725A>C (p.Ala4575=) | |
| 19 | g.38572084A>G | CA507355977 | RYR1 | c.748A>G c.2145A>G c.2117A>G c.13812A>G (p.Ala4604=) c.13797A>G (p.Ala4599=) c.13794A>G (p.Ala4598=) c.272A>G c.13779A>G (p.Ala4593=) c.13809A>G (p.Ala4603=) c.13725A>G (p.Ala4575=) | gnomAD v4 |
| 19 | g.38572084A>T | CA507355978 | RYR1 | c.748A>T c.2145A>T c.2117A>T c.13812A>T (p.Ala4604=) c.13797A>T (p.Ala4599=) c.13794A>T (p.Ala4598=) c.272A>T c.13779A>T (p.Ala4593=) c.13809A>T (p.Ala4603=) c.13725A>T (p.Ala4575=) | |
| 19 | g.38572085G>A | CA405680445 | RYR1 | c.749G>A c.2146G>A c.2118G>A c.13813G>A (p.Gly4605Ser) c.13798G>A (p.Gly4600Ser) c.13795G>A (p.Gly4599Ser) c.273G>A c.13780G>A (p.Gly4594Ser) c.13810G>A (p.Gly4604Ser) c.13726G>A (p.Gly4576Ser) | |
| 19 | g.38572085G>C | CA405680442 | RYR1 | c.749G>C c.2146G>C c.2118G>C c.13813G>C (p.Gly4605Arg) c.13798G>C (p.Gly4600Arg) c.13795G>C (p.Gly4599Arg) c.273G>C c.13780G>C (p.Gly4594Arg) c.13810G>C (p.Gly4604Arg) c.13726G>C (p.Gly4576Arg) | |
| 19 | g.38572085G>T | CA405680433 | RYR1 | c.749G>T c.2146G>T c.2118G>T c.13813G>T (p.Gly4605Cys) c.13798G>T (p.Gly4600Cys) c.13795G>T (p.Gly4599Cys) c.273G>T c.13780G>T (p.Gly4594Cys) c.13810G>T (p.Gly4604Cys) c.13726G>T (p.Gly4576Cys) | |
| 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.38572086G>A | CA405680449 | RYR1 | c.750G>A c.2147G>A c.2119G>A c.13814G>A (p.Gly4605Asp) c.13799G>A (p.Gly4600Asp) c.13796G>A (p.Gly4599Asp) c.274G>A c.13781G>A (p.Gly4594Asp) c.13811G>A (p.Gly4604Asp) c.13727G>A (p.Gly4576Asp) | |
| 19 | g.38572086G>C | CA405680452 | RYR1 | c.750G>C c.2147G>C c.2119G>C c.13814G>C (p.Gly4605Ala) c.13799G>C (p.Gly4600Ala) c.13796G>C (p.Gly4599Ala) c.274G>C c.13781G>C (p.Gly4594Ala) c.13811G>C (p.Gly4604Ala) c.13727G>C (p.Gly4576Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38572086G= | CA2335088381 | RYR1 | c.750G= c.2147G= c.2119G= c.13814G= (p.Gly4605=) c.13799G= (p.Gly4600=) c.13796G= (p.Gly4599=) c.274G= c.13781G= (p.Gly4594=) c.13811G= (p.Gly4604=) c.13727G= (p.Gly4576=) | |
| 19 | g.38572086G>T | CA405680455 | RYR1 | c.750G>T c.2147G>T c.2119G>T c.13814G>T (p.Gly4605Val) c.13799G>T (p.Gly4600Val) c.13796G>T (p.Gly4599Val) c.274G>T c.13781G>T (p.Gly4594Val) c.13811G>T (p.Gly4604Val) c.13727G>T (p.Gly4576Val) | |
| 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.38572087C>A | CA507355980 | RYR1 | c.751C>A c.2148C>A c.2120C>A c.13815C>A (p.Gly4605=) c.13800C>A (p.Gly4600=) c.13797C>A (p.Gly4599=) c.275C>A c.13782C>A (p.Gly4594=) c.13812C>A (p.Gly4604=) c.13728C>A (p.Gly4576=) | |
| 19 | g.38572087C= | CA2335088382 | RYR1 | c.751C= c.2148C= c.2120C= c.13815C= (p.Gly4605=) c.13800C= (p.Gly4600=) c.13797C= (p.Gly4599=) c.275C= c.13782C= (p.Gly4594=) c.13812C= (p.Gly4604=) c.13728C= (p.Gly4576=) | |
| 19 | g.38572087C>G | CA060555 | RYR1 | c.751C>G c.2148C>G c.2120C>G c.13815C>G (p.Gly4605=) c.13800C>G (p.Gly4600=) c.13797C>G (p.Gly4599=) c.275C>G c.13782C>G (p.Gly4594=) c.13812C>G (p.Gly4604=) c.13728C>G (p.Gly4576=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38572087C>T | CA507355981 | RYR1 | c.751C>T c.2148C>T c.2120C>T c.13815C>T (p.Gly4605=) c.13800C>T (p.Gly4600=) c.13797C>T (p.Gly4599=) c.275C>T c.13782C>T (p.Gly4594=) c.13812C>T (p.Gly4604=) c.13728C>T (p.Gly4576=) | |
| 19 | g.38572088T>A | CA405680477 | RYR1 | c.752T>A c.2149T>A c.2121T>A c.13816T>A (p.Ser4606Thr) c.13801T>A (p.Ser4601Thr) c.13798T>A (p.Ser4600Thr) c.276T>A c.13783T>A (p.Ser4595Thr) c.13813T>A (p.Ser4605Thr) c.13729T>A (p.Ser4577Thr) | |
| 19 | g.38572088T>C | CA405680467 | RYR1 | c.752T>C c.2149T>C c.2121T>C c.13816T>C (p.Ser4606Pro) c.13801T>C (p.Ser4601Pro) c.13798T>C (p.Ser4600Pro) c.276T>C c.13783T>C (p.Ser4595Pro) c.13813T>C (p.Ser4605Pro) c.13729T>C (p.Ser4577Pro) | |
| 19 | g.38572088T>G | CA405680464 | RYR1 | c.752T>G c.2149T>G c.2121T>G c.13816T>G (p.Ser4606Ala) c.13801T>G (p.Ser4601Ala) c.13798T>G (p.Ser4600Ala) c.276T>G c.13783T>G (p.Ser4595Ala) c.13813T>G (p.Ser4605Ala) c.13729T>G (p.Ser4577Ala) | dbSNP |
| 19 | g.38572088T= | CA2335088383 | RYR1 | c.752T= c.2149T= c.2121T= c.13816T= (p.Ser4606=) c.13801T= (p.Ser4601=) c.13798T= (p.Ser4600=) c.276T= c.13783T= (p.Ser4595=) c.13813T= (p.Ser4605=) c.13729T= (p.Ser4577=) | |
| 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 |