Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.38577996A>C | CA405684626 | RYR1 | c.1187A>C c.2584A>C c.2556A>C c.14251A>C (p.Ile4751Leu) c.14236A>C (p.Ile4746Leu) c.14233A>C (p.Ile4745Leu) c.14218A>C (p.Ile4740Leu) c.14248A>C (p.Ile4750Leu) c.14164A>C (p.Ile4722Leu) | |
19 | g.38577996A>G | CA405684627 | RYR1 | c.1187A>G c.2584A>G c.2556A>G c.14251A>G (p.Ile4751Val) c.14236A>G (p.Ile4746Val) c.14233A>G (p.Ile4745Val) c.14218A>G (p.Ile4740Val) c.14248A>G (p.Ile4750Val) c.14164A>G (p.Ile4722Val) | |
19 | g.38577996A>T | CA405684629 | RYR1 | c.1187A>T c.2584A>T c.2556A>T c.14251A>T (p.Ile4751Phe) c.14236A>T (p.Ile4746Phe) c.14233A>T (p.Ile4745Phe) c.14218A>T (p.Ile4740Phe) c.14248A>T (p.Ile4750Phe) c.14164A>T (p.Ile4722Phe) | |
19 | g.38577997T>A | CA405684630 | RYR1 | c.1188T>A c.2585T>A c.2557T>A c.14252T>A (p.Ile4751Asn) c.14237T>A (p.Ile4746Asn) c.14234T>A (p.Ile4745Asn) c.14219T>A (p.Ile4740Asn) c.14249T>A (p.Ile4750Asn) c.14165T>A (p.Ile4722Asn) | |
19 | g.38577997T>C | CA405684636 | RYR1 | c.1188T>C c.2585T>C c.2557T>C c.14252T>C (p.Ile4751Thr) c.14237T>C (p.Ile4746Thr) c.14234T>C (p.Ile4745Thr) c.14219T>C (p.Ile4740Thr) c.14249T>C (p.Ile4750Thr) c.14165T>C (p.Ile4722Thr) | |
19 | g.38577997T>G | CA061001 | RYR1 | c.1188T>G c.2585T>G c.2557T>G c.14252T>G (p.Ile4751Ser) c.14237T>G (p.Ile4746Ser) c.14234T>G (p.Ile4745Ser) c.14219T>G (p.Ile4740Ser) c.14249T>G (p.Ile4750Ser) c.14165T>G (p.Ile4722Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38577997T= | CA2335091307 | RYR1 | c.1188T= c.2585T= c.2557T= c.14252T= (p.Ile4751=) c.14237T= (p.Ile4746=) c.14234T= (p.Ile4745=) c.14219T= (p.Ile4740=) c.14249T= (p.Ile4750=) c.14165T= (p.Ile4722=) | |
19 | g.38577998C>A | CA507245883 | RYR1 | c.1189C>A c.2586C>A c.2558C>A c.14253C>A (p.Ile4751=) c.14238C>A (p.Ile4746=) c.14235C>A (p.Ile4745=) c.14220C>A (p.Ile4740=) c.14250C>A (p.Ile4750=) c.14166C>A (p.Ile4722=) | |
19 | g.38577998C= | CA2335091308 | RYR1 | c.1189C= c.2586C= c.2558C= c.14253C= (p.Ile4751=) c.14238C= (p.Ile4746=) c.14235C= (p.Ile4745=) c.14220C= (p.Ile4740=) c.14250C= (p.Ile4750=) c.14166C= (p.Ile4722=) | |
19 | g.38577998C>G | CA405684640 | RYR1 | c.1189C>G c.2586C>G c.2558C>G c.14253C>G (p.Ile4751Met) c.14238C>G (p.Ile4746Met) c.14235C>G (p.Ile4745Met) c.14220C>G (p.Ile4740Met) c.14250C>G (p.Ile4750Met) c.14166C>G (p.Ile4722Met) | |
19 | g.38577998C>T | CA061005 | RYR1 | c.1189C>T c.2586C>T c.2558C>T c.14253C>T (p.Ile4751=) c.14238C>T (p.Ile4746=) c.14235C>T (p.Ile4745=) c.14220C>T (p.Ile4740=) c.14250C>T (p.Ile4750=) c.14166C>T (p.Ile4722=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38577999A>C | CA405684644 | RYR1 | c.1190A>C c.2587A>C c.2559A>C c.14254A>C (p.Thr4752Pro) c.14239A>C (p.Thr4747Pro) c.14236A>C (p.Thr4746Pro) c.14221A>C (p.Thr4741Pro) c.14251A>C (p.Thr4751Pro) c.14167A>C (p.Thr4723Pro) | |
19 | g.38577999A>G | CA405684649 | RYR1 | c.1190A>G c.2587A>G c.2559A>G c.14254A>G (p.Thr4752Ala) c.14239A>G (p.Thr4747Ala) c.14236A>G (p.Thr4746Ala) c.14221A>G (p.Thr4741Ala) c.14251A>G (p.Thr4751Ala) c.14167A>G (p.Thr4723Ala) | |
19 | g.38577999A>T | CA405684652 | RYR1 | c.1190A>T c.2587A>T c.2559A>T c.14254A>T (p.Thr4752Ser) c.14239A>T (p.Thr4747Ser) c.14236A>T (p.Thr4746Ser) c.14221A>T (p.Thr4741Ser) c.14251A>T (p.Thr4751Ser) c.14167A>T (p.Thr4723Ser) | |
19 | g.38578000C>A | CA405684656 | RYR1 | c.1191C>A c.2588C>A c.2560C>A c.14255C>A (p.Thr4752Lys) c.14240C>A (p.Thr4747Lys) c.14237C>A (p.Thr4746Lys) c.14222C>A (p.Thr4741Lys) c.14252C>A (p.Thr4751Lys) c.14168C>A (p.Thr4723Lys) | |
19 | g.38578000C>G | CA405684657 | RYR1 | c.1191C>G c.2588C>G c.2560C>G c.14255C>G (p.Thr4752Arg) c.14240C>G (p.Thr4747Arg) c.14237C>G (p.Thr4746Arg) c.14222C>G (p.Thr4741Arg) c.14252C>G (p.Thr4751Arg) c.14168C>G (p.Thr4723Arg) | gnomAD v4 |
19 | g.38578000C>T | CA405684654 | RYR1 | c.1191C>T c.2588C>T c.2560C>T c.14255C>T (p.Thr4752Ile) c.14240C>T (p.Thr4747Ile) c.14237C>T (p.Thr4746Ile) c.14222C>T (p.Thr4741Ile) c.14252C>T (p.Thr4751Ile) c.14168C>T (p.Thr4723Ile) | |
19 | g.38578001_38578026del | CA2584910696 | RYR1 | c.1192_1217del c.2589_2614del c.2561_2586del c.14256_14281del (p.His4754AlafsTer?) c.14241_14266del (p.His4749AlafsTer?) c.14238_14263del (p.His4748AlafsTer?) c.14223_14248del (p.His4743AlafsTer?) c.14253_14278del (p.His4753AlafsTer?) c.14169_14194del (p.His4725AlafsTer?) | gnomAD v4 |
19 | g.38578001A= | CA2335091310 | RYR1 | c.1192A= c.2589A= c.2561A= c.14256A= (p.Thr4752=) c.14241A= (p.Thr4747=) c.14238A= (p.Thr4746=) c.14223A= (p.Thr4741=) c.14253A= (p.Thr4751=) c.14169A= (p.Thr4723=) | |
19 | g.38578001A>C | CA024124 | RYR1 | c.1192A>C c.2589A>C c.2561A>C c.14256A>C (p.Thr4752=) c.14241A>C (p.Thr4747=) c.14238A>C (p.Thr4746=) c.14223A>C (p.Thr4741=) c.14253A>C (p.Thr4751=) c.14169A>C (p.Thr4723=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38578001A>G | CA507245884 | RYR1 | c.1192A>G c.2589A>G c.2561A>G c.14256A>G (p.Thr4752=) c.14241A>G (p.Thr4747=) c.14238A>G (p.Thr4746=) c.14223A>G (p.Thr4741=) c.14253A>G (p.Thr4751=) c.14169A>G (p.Thr4723=) | |
19 | g.38578001A>T | CA081145 | RYR1 | c.1192A>T c.2589A>T c.2561A>T c.14256A>T (p.Thr4752=) c.14241A>T (p.Thr4747=) c.14238A>T (p.Thr4746=) c.14223A>T (p.Thr4741=) c.14253A>T (p.Thr4751=) c.14169A>T (p.Thr4723=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38578001_38578002delinsAG | CA2335091309 | RYR1 | c.1192_1193delinsAG c.2589_2590delinsAG c.2561_2562delinsAG c.14256_14257delinsAG (p.Thr4752=) c.14241_14242delinsAG (p.Thr4747=) c.14238_14239delinsAG (p.Thr4746=) c.14223_14224delinsAG (p.Thr4741=) c.14253_14254delinsAG (p.Thr4751=) c.14169_14170delinsAG (p.Thr4723=) | |
19 | g.38578001_38578002delinsCA | CA658799221 | RYR1 | c.1192_1193delinsCA c.2589_2590delinsCA c.2561_2562delinsCA c.14256_14257delinsCA (p.Ala4753Thr) c.14241_14242delinsCA (p.Ala4748Thr) c.14238_14239delinsCA (p.Ala4747Thr) c.14223_14224delinsCA (p.Ala4742Thr) c.14253_14254delinsCA (p.Ala4752Thr) c.14169_14170delinsCA (p.Ala4724Thr) | ClinVar dbSNP |
19 | g.38578002G>A | CA061015 | RYR1 | c.1193G>A c.2590G>A c.2562G>A c.14257G>A (p.Ala4753Thr) c.14242G>A (p.Ala4748Thr) c.14239G>A (p.Ala4747Thr) c.14224G>A (p.Ala4742Thr) c.14254G>A (p.Ala4752Thr) c.14170G>A (p.Ala4724Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38578002G>C | CA405684663 | RYR1 | c.1193G>C c.2590G>C c.2562G>C c.14257G>C (p.Ala4753Pro) c.14242G>C (p.Ala4748Pro) c.14239G>C (p.Ala4747Pro) c.14224G>C (p.Ala4742Pro) c.14254G>C (p.Ala4752Pro) c.14170G>C (p.Ala4724Pro) | |
19 | g.38578002G= | CA2335091311 | RYR1 | c.1193G= c.2590G= c.2562G= c.14257G= (p.Ala4753=) c.14242G= (p.Ala4748=) c.14239G= (p.Ala4747=) c.14224G= (p.Ala4742=) c.14254G= (p.Ala4752=) c.14170G= (p.Ala4724=) | |
19 | g.38578002G>T | CA405684666 | RYR1 | c.1193G>T c.2590G>T c.2562G>T c.14257G>T (p.Ala4753Ser) c.14242G>T (p.Ala4748Ser) c.14239G>T (p.Ala4747Ser) c.14224G>T (p.Ala4742Ser) c.14254G>T (p.Ala4752Ser) c.14170G>T (p.Ala4724Ser) | |
19 | g.38578003C>A | CA405684668 | RYR1 | c.1194C>A c.2591C>A c.2563C>A c.14258C>A (p.Ala4753Asp) c.14243C>A (p.Ala4748Asp) c.14240C>A (p.Ala4747Asp) c.14225C>A (p.Ala4742Asp) c.14255C>A (p.Ala4752Asp) c.14171C>A (p.Ala4724Asp) | |
19 | g.38578003C= | CA2335091312 | RYR1 | c.1194C= c.2591C= c.2563C= c.14258C= (p.Ala4753=) c.14243C= (p.Ala4748=) c.14240C= (p.Ala4747=) c.14225C= (p.Ala4742=) c.14255C= (p.Ala4752=) c.14171C= (p.Ala4724=) | |
19 | g.38578003C>G | CA405684669 | RYR1 | c.1194C>G c.2591C>G c.2563C>G c.14258C>G (p.Ala4753Gly) c.14243C>G (p.Ala4748Gly) c.14240C>G (p.Ala4747Gly) c.14225C>G (p.Ala4742Gly) c.14255C>G (p.Ala4752Gly) c.14171C>G (p.Ala4724Gly) | |
19 | g.38578003C>T | CA061016 | RYR1 | c.1194C>T c.2591C>T c.2563C>T c.14258C>T (p.Ala4753Val) c.14243C>T (p.Ala4748Val) c.14240C>T (p.Ala4747Val) c.14225C>T (p.Ala4742Val) c.14255C>T (p.Ala4752Val) c.14171C>T (p.Ala4724Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38578004C>A | CA507245885 | RYR1 | c.1195C>A c.2592C>A c.2564C>A c.14259C>A (p.Ala4753=) c.14244C>A (p.Ala4748=) c.14241C>A (p.Ala4747=) c.14226C>A (p.Ala4742=) c.14256C>A (p.Ala4752=) c.14172C>A (p.Ala4724=) | |
19 | g.38578004C= | CA2335091313 | RYR1 | c.1195C= c.2592C= c.2564C= c.14259C= (p.Ala4753=) c.14244C= (p.Ala4748=) c.14241C= (p.Ala4747=) c.14226C= (p.Ala4742=) c.14256C= (p.Ala4752=) c.14172C= (p.Ala4724=) | |
19 | g.38578004C>G | CA507245886 | RYR1 | c.1195C>G c.2592C>G c.2564C>G c.14259C>G (p.Ala4753=) c.14244C>G (p.Ala4748=) c.14241C>G (p.Ala4747=) c.14226C>G (p.Ala4742=) c.14256C>G (p.Ala4752=) c.14172C>G (p.Ala4724=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38578004C>T | CA507245887 | RYR1 | c.1195C>T c.2592C>T c.2564C>T c.14259C>T (p.Ala4753=) c.14244C>T (p.Ala4748=) c.14241C>T (p.Ala4747=) c.14226C>T (p.Ala4742=) c.14256C>T (p.Ala4752=) c.14172C>T (p.Ala4724=) | |
19 | g.38578005C>A | CA405684678 | RYR1 | c.1196C>A c.2593C>A c.2565C>A c.14260C>A (p.His4754Asn) c.14245C>A (p.His4749Asn) c.14242C>A (p.His4748Asn) c.14227C>A (p.His4743Asn) c.14257C>A (p.His4753Asn) c.14173C>A (p.His4725Asn) | |
19 | g.38578005C>G | CA405684674 | RYR1 | c.1196C>G c.2593C>G c.2565C>G c.14260C>G (p.His4754Asp) c.14245C>G (p.His4749Asp) c.14242C>G (p.His4748Asp) c.14227C>G (p.His4743Asp) c.14257C>G (p.His4753Asp) c.14173C>G (p.His4725Asp) | |
19 | g.38578005C>T | CA405684676 | RYR1 | c.1196C>T c.2593C>T c.2565C>T c.14260C>T (p.His4754Tyr) c.14245C>T (p.His4749Tyr) c.14242C>T (p.His4748Tyr) c.14227C>T (p.His4743Tyr) c.14257C>T (p.His4753Tyr) c.14173C>T (p.His4725Tyr) | |
19 | g.38578006A>C | CA405684680 | RYR1 | c.1197A>C c.2594A>C c.2566A>C c.14261A>C (p.His4754Pro) c.14246A>C (p.His4749Pro) c.14243A>C (p.His4748Pro) c.14228A>C (p.His4743Pro) c.14258A>C (p.His4753Pro) c.14174A>C (p.His4725Pro) | |
19 | g.38578006A>G | CA405684682 | RYR1 | c.1197A>G c.2594A>G c.2566A>G c.14261A>G (p.His4754Arg) c.14246A>G (p.His4749Arg) c.14243A>G (p.His4748Arg) c.14228A>G (p.His4743Arg) c.14258A>G (p.His4753Arg) c.14174A>G (p.His4725Arg) | |
19 | g.38578006A>T | CA405684684 | RYR1 | c.1197A>T c.2594A>T c.2566A>T c.14261A>T (p.His4754Leu) c.14246A>T (p.His4749Leu) c.14243A>T (p.His4748Leu) c.14228A>T (p.His4743Leu) c.14258A>T (p.His4753Leu) c.14174A>T (p.His4725Leu) | |
19 | g.38578007C>A | CA405684686 | RYR1 | c.1198C>A c.2595C>A c.2567C>A c.14262C>A (p.His4754Gln) c.14247C>A (p.His4749Gln) c.14244C>A (p.His4748Gln) c.14229C>A (p.His4743Gln) c.14259C>A (p.His4753Gln) c.14175C>A (p.His4725Gln) | |
19 | g.38578007C>G | CA405684688 | RYR1 | c.1198C>G c.2595C>G c.2567C>G c.14262C>G (p.His4754Gln) c.14247C>G (p.His4749Gln) c.14244C>G (p.His4748Gln) c.14229C>G (p.His4743Gln) c.14259C>G (p.His4753Gln) c.14175C>G (p.His4725Gln) | |
19 | g.38578007C>T | CA507245888 | RYR1 | c.1198C>T c.2595C>T c.2567C>T c.14262C>T (p.His4754=) c.14247C>T (p.His4749=) c.14244C>T (p.His4748=) c.14229C>T (p.His4743=) c.14259C>T (p.His4753=) c.14175C>T (p.His4725=) | |
19 | g.38578008A= | CA2335091314 | RYR1 | c.1199A= c.2596A= c.2568A= c.14263A= (p.Asn4755=) c.14248A= (p.Asn4750=) c.14245A= (p.Asn4749=) c.14230A= (p.Asn4744=) c.14260A= (p.Asn4754=) c.14176A= (p.Asn4726=) | |
19 | g.38578008A>C | CA405684689 | RYR1 | c.1199A>C c.2596A>C c.2568A>C c.14263A>C (p.Asn4755His) c.14248A>C (p.Asn4750His) c.14245A>C (p.Asn4749His) c.14230A>C (p.Asn4744His) c.14260A>C (p.Asn4754His) c.14176A>C (p.Asn4726His) | |
19 | g.38578008A>G | CA405684694 | RYR1 | c.1199A>G c.2596A>G c.2568A>G c.14263A>G (p.Asn4755Asp) c.14248A>G (p.Asn4750Asp) c.14245A>G (p.Asn4749Asp) c.14230A>G (p.Asn4744Asp) c.14260A>G (p.Asn4754Asp) c.14176A>G (p.Asn4726Asp) | dbSNP gnomAD v2 |
19 | g.38578008A>T | CA405684692 | RYR1 | c.1199A>T c.2596A>T c.2568A>T c.14263A>T (p.Asn4755Tyr) c.14248A>T (p.Asn4750Tyr) c.14245A>T (p.Asn4749Tyr) c.14230A>T (p.Asn4744Tyr) c.14260A>T (p.Asn4754Tyr) c.14176A>T (p.Asn4726Tyr) | |
19 | g.38578009A= | CA2335091315 | RYR1 | c.1200A= c.2597A= c.2569A= c.14264A= (p.Asn4755=) c.14249A= (p.Asn4750=) c.14246A= (p.Asn4749=) c.14231A= (p.Asn4744=) c.14261A= (p.Asn4754=) c.14177A= (p.Asn4726=) | |
19 | g.38578009A>C | CA405684697 | RYR1 | c.1200A>C c.2597A>C c.2569A>C c.14264A>C (p.Asn4755Thr) c.14249A>C (p.Asn4750Thr) c.14246A>C (p.Asn4749Thr) c.14231A>C (p.Asn4744Thr) c.14261A>C (p.Asn4754Thr) c.14177A>C (p.Asn4726Thr) | |
19 | g.38578009A>G | CA405684699 | RYR1 | c.1200A>G c.2597A>G c.2569A>G c.14264A>G (p.Asn4755Ser) c.14249A>G (p.Asn4750Ser) c.14246A>G (p.Asn4749Ser) c.14231A>G (p.Asn4744Ser) c.14261A>G (p.Asn4754Ser) c.14177A>G (p.Asn4726Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38578009A>T | CA405684702 | RYR1 | c.1200A>T c.2597A>T c.2569A>T c.14264A>T (p.Asn4755Ile) c.14249A>T (p.Asn4750Ile) c.14246A>T (p.Asn4749Ile) c.14231A>T (p.Asn4744Ile) c.14261A>T (p.Asn4754Ile) c.14177A>T (p.Asn4726Ile) | |
19 | g.38578010T>A | CA405684704 | RYR1 | c.1201T>A c.2598T>A c.2570T>A c.14265T>A (p.Asn4755Lys) c.14250T>A (p.Asn4750Lys) c.14247T>A (p.Asn4749Lys) c.14232T>A (p.Asn4744Lys) c.14262T>A (p.Asn4754Lys) c.14178T>A (p.Asn4726Lys) | |
19 | g.38578010T>C | CA507245889 | RYR1 | c.1201T>C c.2598T>C c.2570T>C c.14265T>C (p.Asn4755=) c.14250T>C (p.Asn4750=) c.14247T>C (p.Asn4749=) c.14232T>C (p.Asn4744=) c.14262T>C (p.Asn4754=) c.14178T>C (p.Asn4726=) | gnomAD v4 |
19 | g.38578010T>G | CA405684707 | RYR1 | c.1201T>G c.2598T>G c.2570T>G c.14265T>G (p.Asn4755Lys) c.14250T>G (p.Asn4750Lys) c.14247T>G (p.Asn4749Lys) c.14232T>G (p.Asn4744Lys) c.14262T>G (p.Asn4754Lys) c.14178T>G (p.Asn4726Lys) | |
19 | g.38578011G>A | CA061019 | RYR1 | c.1202G>A c.2599G>A c.2571G>A c.14266G>A (p.Glu4756Lys) c.14251G>A (p.Glu4751Lys) c.14248G>A (p.Glu4750Lys) c.14233G>A (p.Glu4745Lys) c.14263G>A (p.Glu4755Lys) c.14179G>A (p.Glu4727Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38578011G>C | CA405684709 | RYR1 | c.1202G>C c.2599G>C c.2571G>C c.14266G>C (p.Glu4756Gln) c.14251G>C (p.Glu4751Gln) c.14248G>C (p.Glu4750Gln) c.14233G>C (p.Glu4745Gln) c.14263G>C (p.Glu4755Gln) c.14179G>C (p.Glu4727Gln) | |
19 | g.38578011G= | CA2335091316 | RYR1 | c.1202G= c.2599G= c.2571G= c.14266G= (p.Glu4756=) c.14251G= (p.Glu4751=) c.14248G= (p.Glu4750=) c.14233G= (p.Glu4745=) c.14263G= (p.Glu4755=) c.14179G= (p.Glu4727=) | |
19 | g.38578011G>T | CA405684710 | RYR1 | c.1202G>T c.2599G>T c.2571G>T c.14266G>T (p.Glu4756Ter) c.14251G>T (p.Glu4751Ter) c.14248G>T (p.Glu4750Ter) c.14233G>T (p.Glu4745Ter) c.14263G>T (p.Glu4755Ter) c.14179G>T (p.Glu4727Ter) | |
19 | g.38578012A>C | CA405684714 | RYR1 | c.1203A>C c.2600A>C c.2572A>C c.14267A>C (p.Glu4756Ala) c.14252A>C (p.Glu4751Ala) c.14249A>C (p.Glu4750Ala) c.14234A>C (p.Glu4745Ala) c.14264A>C (p.Glu4755Ala) c.14180A>C (p.Glu4727Ala) | |
19 | g.38578012A>G | CA405684715 | RYR1 | c.1203A>G c.2600A>G c.2572A>G c.14267A>G (p.Glu4756Gly) c.14252A>G (p.Glu4751Gly) c.14249A>G (p.Glu4750Gly) c.14234A>G (p.Glu4745Gly) c.14264A>G (p.Glu4755Gly) c.14180A>G (p.Glu4727Gly) | |
19 | g.38578012A>T | CA405684717 | RYR1 | c.1203A>T c.2600A>T c.2572A>T c.14267A>T (p.Glu4756Val) c.14252A>T (p.Glu4751Val) c.14249A>T (p.Glu4750Val) c.14234A>T (p.Glu4745Val) c.14264A>T (p.Glu4755Val) c.14180A>T (p.Glu4727Val) | |
19 | g.38578015_38578020dup | CA2814346164 | RYR1 | c.1206_1211dup c.2603_2608dup c.2575_2580dup c.14270_14275dup (p.Lys4758_Pro4759insArgLys) c.14255_14260dup (p.Lys4753_Pro4754insArgLys) c.14252_14257dup (p.Lys4752_Pro4753insArgLys) c.14237_14242dup (p.Lys4747_Pro4748insArgLys) c.14267_14272dup (p.Lys4757_Pro4758insArgLys) c.14183_14188dup (p.Lys4729_Pro4730insArgLys) | |
19 | g.38578013G>A | CA507245890 | RYR1 | c.1204G>A c.2601G>A c.2573G>A c.14268G>A (p.Glu4756=) c.14253G>A (p.Glu4751=) c.14250G>A (p.Glu4750=) c.14235G>A (p.Glu4745=) c.14265G>A (p.Glu4755=) c.14181G>A (p.Glu4727=) | ClinVar dbSNP |
19 | g.38578013G>C | CA405684720 | RYR1 | c.1204G>C c.2601G>C c.2573G>C c.14268G>C (p.Glu4756Asp) c.14253G>C (p.Glu4751Asp) c.14250G>C (p.Glu4750Asp) c.14235G>C (p.Glu4745Asp) c.14265G>C (p.Glu4755Asp) c.14181G>C (p.Glu4727Asp) | gnomAD v4 |
19 | g.38578013G= | CA2335091317 | RYR1 | c.1204G= c.2601G= c.2573G= c.14268G= (p.Glu4756=) c.14253G= (p.Glu4751=) c.14250G= (p.Glu4750=) c.14235G= (p.Glu4745=) c.14265G= (p.Glu4755=) c.14181G= (p.Glu4727=) | |
19 | g.38578013G>T | CA405684719 | RYR1 | c.1204G>T c.2601G>T c.2573G>T c.14268G>T (p.Glu4756Asp) c.14253G>T (p.Glu4751Asp) c.14250G>T (p.Glu4750Asp) c.14235G>T (p.Glu4745Asp) c.14265G>T (p.Glu4755Asp) c.14181G>T (p.Glu4727Asp) | |
19 | g.38578014C>A | CA405684721 | RYR1 | c.1205C>A c.2602C>A c.2574C>A c.14269C>A (p.Arg4757Ser) c.14254C>A (p.Arg4752Ser) c.14251C>A (p.Arg4751Ser) c.14236C>A (p.Arg4746Ser) c.14266C>A (p.Arg4756Ser) c.14182C>A (p.Arg4728Ser) | |
19 | g.38578014C= | CA2335091318 | RYR1 | c.1205C= c.2602C= c.2574C= c.14269C= (p.Arg4757=) c.14254C= (p.Arg4752=) c.14251C= (p.Arg4751=) c.14236C= (p.Arg4746=) c.14266C= (p.Arg4756=) c.14182C= (p.Arg4728=) | |
19 | g.38578014C>G | CA405684722 | RYR1 | c.1205C>G c.2602C>G c.2574C>G c.14269C>G (p.Arg4757Gly) c.14254C>G (p.Arg4752Gly) c.14251C>G (p.Arg4751Gly) c.14236C>G (p.Arg4746Gly) c.14266C>G (p.Arg4756Gly) c.14182C>G (p.Arg4728Gly) | |
19 | g.38578014C>T | CA061021 | RYR1 | c.1205C>T c.2602C>T c.2574C>T c.14269C>T (p.Arg4757Cys) c.14254C>T (p.Arg4752Cys) c.14251C>T (p.Arg4751Cys) c.14236C>T (p.Arg4746Cys) c.14266C>T (p.Arg4756Cys) c.14182C>T (p.Arg4728Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38578015G>A | CA061023 | RYR1 | c.1206G>A c.2603G>A c.2575G>A c.14270G>A (p.Arg4757His) c.14255G>A (p.Arg4752His) c.14252G>A (p.Arg4751His) c.14237G>A (p.Arg4746His) c.14267G>A (p.Arg4756His) c.14183G>A (p.Arg4728His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38578015G>C | CA405684727 | RYR1 | c.1206G>C c.2603G>C c.2575G>C c.14270G>C (p.Arg4757Pro) c.14255G>C (p.Arg4752Pro) c.14252G>C (p.Arg4751Pro) c.14237G>C (p.Arg4746Pro) c.14267G>C (p.Arg4756Pro) c.14183G>C (p.Arg4728Pro) | |
19 | g.38578015G= | CA2335091319 | RYR1 | c.1206G= c.2603G= c.2575G= c.14270G= (p.Arg4757=) c.14255G= (p.Arg4752=) c.14252G= (p.Arg4751=) c.14237G= (p.Arg4746=) c.14267G= (p.Arg4756=) c.14183G= (p.Arg4728=) | |
19 | g.38578015G>T | CA405684729 | RYR1 | c.1206G>T c.2603G>T c.2575G>T c.14270G>T (p.Arg4757Leu) c.14255G>T (p.Arg4752Leu) c.14252G>T (p.Arg4751Leu) c.14237G>T (p.Arg4746Leu) c.14267G>T (p.Arg4756Leu) c.14183G>T (p.Arg4728Leu) | COSMIC |
19 | g.38578016C>A | CA507245892 | RYR1 | c.1207C>A c.2604C>A c.2576C>A c.14271C>A (p.Arg4757=) c.14256C>A (p.Arg4752=) c.14253C>A (p.Arg4751=) c.14238C>A (p.Arg4746=) c.14268C>A (p.Arg4756=) c.14184C>A (p.Arg4728=) | |
19 | g.38578016C= | CA2335091320 | RYR1 | c.1207C= c.2604C= c.2576C= c.14271C= (p.Arg4757=) c.14256C= (p.Arg4752=) c.14253C= (p.Arg4751=) c.14238C= (p.Arg4746=) c.14268C= (p.Arg4756=) c.14184C= (p.Arg4728=) | |
19 | g.38578016C>G | CA507245893 | RYR1 | c.1207C>G c.2604C>G c.2576C>G c.14271C>G (p.Arg4757=) c.14256C>G (p.Arg4752=) c.14253C>G (p.Arg4751=) c.14238C>G (p.Arg4746=) c.14268C>G (p.Arg4756=) c.14184C>G (p.Arg4728=) | gnomAD v4 |
19 | g.38578016C>T | CA507245891 | RYR1 | c.1207C>T c.2604C>T c.2576C>T c.14271C>T (p.Arg4757=) c.14256C>T (p.Arg4752=) c.14253C>T (p.Arg4751=) c.14238C>T (p.Arg4746=) c.14268C>T (p.Arg4756=) c.14184C>T (p.Arg4728=) | ClinVar dbSNP |
19 | g.38578017A= | CA2335091321 | RYR1 | c.1208A= c.2605A= c.2577A= c.14272A= (p.Lys4758=) c.14257A= (p.Lys4753=) c.14254A= (p.Lys4752=) c.14239A= (p.Lys4747=) c.14269A= (p.Lys4757=) c.14185A= (p.Lys4729=) | |
19 | g.38578017A>C | CA405684737 | RYR1 | c.1208A>C c.2605A>C c.2577A>C c.14272A>C (p.Lys4758Gln) c.14257A>C (p.Lys4753Gln) c.14254A>C (p.Lys4752Gln) c.14239A>C (p.Lys4747Gln) c.14269A>C (p.Lys4757Gln) c.14185A>C (p.Lys4729Gln) | dbSNP |
19 | g.38578017A>G | CA405684734 | RYR1 | c.1208A>G c.2605A>G c.2577A>G c.14272A>G (p.Lys4758Glu) c.14257A>G (p.Lys4753Glu) c.14254A>G (p.Lys4752Glu) c.14239A>G (p.Lys4747Glu) c.14269A>G (p.Lys4757Glu) c.14185A>G (p.Lys4729Glu) | |
19 | g.38578017A>T | CA405684731 | RYR1 | c.1208A>T c.2605A>T c.2577A>T c.14272A>T (p.Lys4758Ter) c.14257A>T (p.Lys4753Ter) c.14254A>T (p.Lys4752Ter) c.14239A>T (p.Lys4747Ter) c.14269A>T (p.Lys4757Ter) c.14185A>T (p.Lys4729Ter) | gnomAD v4 |
19 | g.38578018A= | CA2335091322 | RYR1 | c.1209A= c.2606A= c.2578A= c.14273A= (p.Lys4758=) c.14258A= (p.Lys4753=) c.14255A= (p.Lys4752=) c.14240A= (p.Lys4747=) c.14270A= (p.Lys4757=) c.14186A= (p.Lys4729=) | |
19 | g.38578018A>C | CA405684739 | RYR1 | c.1209A>C c.2606A>C c.2578A>C c.14273A>C (p.Lys4758Thr) c.14258A>C (p.Lys4753Thr) c.14255A>C (p.Lys4752Thr) c.14240A>C (p.Lys4747Thr) c.14270A>C (p.Lys4757Thr) c.14186A>C (p.Lys4729Thr) | |
19 | g.38578018A>G | CA405684743 | RYR1 | c.1209A>G c.2606A>G c.2578A>G c.14273A>G (p.Lys4758Arg) c.14258A>G (p.Lys4753Arg) c.14255A>G (p.Lys4752Arg) c.14240A>G (p.Lys4747Arg) c.14270A>G (p.Lys4757Arg) c.14186A>G (p.Lys4729Arg) | ClinVar dbSNP gnomAD v4 |
19 | g.38578018A>T | CA405684745 | RYR1 | c.1209A>T c.2606A>T c.2578A>T c.14273A>T (p.Lys4758Met) c.14258A>T (p.Lys4753Met) c.14255A>T (p.Lys4752Met) c.14240A>T (p.Lys4747Met) c.14270A>T (p.Lys4757Met) c.14186A>T (p.Lys4729Met) | |
19 | g.38578019G>A | CA061027 | RYR1 | c.1210G>A c.2607G>A c.2579G>A c.14274G>A (p.Lys4758=) c.14259G>A (p.Lys4753=) c.14256G>A (p.Lys4752=) c.14241G>A (p.Lys4747=) c.14271G>A (p.Lys4757=) c.14187G>A (p.Lys4729=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38578019G>C | CA405684748 | RYR1 | c.1210G>C c.2607G>C c.2579G>C c.14274G>C (p.Lys4758Asn) c.14259G>C (p.Lys4753Asn) c.14256G>C (p.Lys4752Asn) c.14241G>C (p.Lys4747Asn) c.14271G>C (p.Lys4757Asn) c.14187G>C (p.Lys4729Asn) | |
19 | g.38578019G= | CA2335091323 | RYR1 | c.1210G= c.2607G= c.2579G= c.14274G= (p.Lys4758=) c.14259G= (p.Lys4753=) c.14256G= (p.Lys4752=) c.14241G= (p.Lys4747=) c.14271G= (p.Lys4757=) c.14187G= (p.Lys4729=) | |
19 | g.38578019G>T | CA405684750 | RYR1 | c.1210G>T c.2607G>T c.2579G>T c.14274G>T (p.Lys4758Asn) c.14259G>T (p.Lys4753Asn) c.14256G>T (p.Lys4752Asn) c.14241G>T (p.Lys4747Asn) c.14271G>T (p.Lys4757Asn) c.14187G>T (p.Lys4729Asn) | |
19 | g.38578020C>A | CA405684753 | RYR1 | c.1211C>A c.2608C>A c.2580C>A c.14275C>A (p.Pro4759Thr) c.14260C>A (p.Pro4754Thr) c.14257C>A (p.Pro4753Thr) c.14242C>A (p.Pro4748Thr) c.14272C>A (p.Pro4758Thr) c.14188C>A (p.Pro4730Thr) | |
19 | g.38578020C= | CA2335091324 | RYR1 | c.1211C= c.2608C= c.2580C= c.14275C= (p.Pro4759=) c.14260C= (p.Pro4754=) c.14257C= (p.Pro4753=) c.14242C= (p.Pro4748=) c.14272C= (p.Pro4758=) c.14188C= (p.Pro4730=) | |
19 | g.38578020C>G | CA405684755 | RYR1 | c.1211C>G c.2608C>G c.2580C>G c.14275C>G (p.Pro4759Ala) c.14260C>G (p.Pro4754Ala) c.14257C>G (p.Pro4753Ala) c.14242C>G (p.Pro4748Ala) c.14272C>G (p.Pro4758Ala) c.14188C>G (p.Pro4730Ala) | |
19 | g.38578020C>T | CA061031 | RYR1 | c.1211C>T c.2608C>T c.2580C>T c.14275C>T (p.Pro4759Ser) c.14260C>T (p.Pro4754Ser) c.14257C>T (p.Pro4753Ser) c.14242C>T (p.Pro4748Ser) c.14272C>T (p.Pro4758Ser) c.14188C>T (p.Pro4730Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38578021C>A | CA405684757 | RYR1 | c.1212C>A c.2609C>A c.2581C>A c.14276C>A (p.Pro4759His) c.14261C>A (p.Pro4754His) c.14258C>A (p.Pro4753His) c.14243C>A (p.Pro4748His) c.14273C>A (p.Pro4758His) c.14189C>A (p.Pro4730His) | |
19 | g.38578021C>G | CA405684758 | RYR1 | c.1212C>G c.2609C>G c.2581C>G c.14276C>G (p.Pro4759Arg) c.14261C>G (p.Pro4754Arg) c.14258C>G (p.Pro4753Arg) c.14243C>G (p.Pro4748Arg) c.14273C>G (p.Pro4758Arg) c.14189C>G (p.Pro4730Arg) | |
19 | g.38578021C>T | CA405684761 | RYR1 | c.1212C>T c.2609C>T c.2581C>T c.14276C>T (p.Pro4759Leu) c.14261C>T (p.Pro4754Leu) c.14258C>T (p.Pro4753Leu) c.14243C>T (p.Pro4748Leu) c.14273C>T (p.Pro4758Leu) c.14189C>T (p.Pro4730Leu) | ClinVar |
19 | g.38578022C>A | CA507245894 | RYR1 | c.1213C>A c.2610C>A c.2582C>A c.14277C>A (p.Pro4759=) c.14262C>A (p.Pro4754=) c.14259C>A (p.Pro4753=) c.14244C>A (p.Pro4748=) c.14274C>A (p.Pro4758=) c.14190C>A (p.Pro4730=) | |
19 | g.38578022C>G | CA507245896 | RYR1 | c.1213C>G c.2610C>G c.2582C>G c.14277C>G (p.Pro4759=) c.14262C>G (p.Pro4754=) c.14259C>G (p.Pro4753=) c.14244C>G (p.Pro4748=) c.14274C>G (p.Pro4758=) c.14190C>G (p.Pro4730=) | gnomAD v4 |
19 | g.38578022C>T | CA507245895 | RYR1 | c.1213C>T c.2610C>T c.2582C>T c.14277C>T (p.Pro4759=) c.14262C>T (p.Pro4754=) c.14259C>T (p.Pro4753=) c.14244C>T (p.Pro4748=) c.14274C>T (p.Pro4758=) c.14190C>T (p.Pro4730=) | gnomAD v4 |
19 | g.38578023A>C | CA405684762 | RYR1 | c.1214A>C c.2611A>C c.2583A>C c.14278A>C (p.Asn4760His) c.14263A>C (p.Asn4755His) c.14260A>C (p.Asn4754His) c.14245A>C (p.Asn4749His) c.14275A>C (p.Asn4759His) c.14191A>C (p.Asn4731His) | |
19 | g.38578023A>G | CA405684763 | RYR1 | c.1214A>G c.2611A>G c.2583A>G c.14278A>G (p.Asn4760Asp) c.14263A>G (p.Asn4755Asp) c.14260A>G (p.Asn4754Asp) c.14245A>G (p.Asn4749Asp) c.14275A>G (p.Asn4759Asp) c.14191A>G (p.Asn4731Asp) | gnomAD v4 |
19 | g.38578023A>T | CA405684765 | RYR1 | c.1214A>T c.2611A>T c.2583A>T c.14278A>T (p.Asn4760Tyr) c.14263A>T (p.Asn4755Tyr) c.14260A>T (p.Asn4754Tyr) c.14245A>T (p.Asn4749Tyr) c.14275A>T (p.Asn4759Tyr) c.14191A>T (p.Asn4731Tyr) | |
19 | g.38578024A= | CA2335091325 | RYR1 | c.1215A= c.2612A= c.2584A= c.14279A= (p.Asn4760=) c.14264A= (p.Asn4755=) c.14261A= (p.Asn4754=) c.14246A= (p.Asn4749=) c.14276A= (p.Asn4759=) c.14192A= (p.Asn4731=) | |
19 | g.38578024A>C | CA405684768 | RYR1 | c.1215A>C c.2612A>C c.2584A>C c.14279A>C (p.Asn4760Thr) c.14264A>C (p.Asn4755Thr) c.14261A>C (p.Asn4754Thr) c.14246A>C (p.Asn4749Thr) c.14276A>C (p.Asn4759Thr) c.14192A>C (p.Asn4731Thr) | dbSNP gnomAD v4 |
19 | g.38578024A>G | CA308120175 | RYR1 | c.1215A>G c.2612A>G c.2584A>G c.14279A>G (p.Asn4760Ser) c.14264A>G (p.Asn4755Ser) c.14261A>G (p.Asn4754Ser) c.14246A>G (p.Asn4749Ser) c.14276A>G (p.Asn4759Ser) c.14192A>G (p.Asn4731Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38578024A>T | CA405684771 | RYR1 | c.1215A>T c.2612A>T c.2584A>T c.14279A>T (p.Asn4760Ile) c.14264A>T (p.Asn4755Ile) c.14261A>T (p.Asn4754Ile) c.14246A>T (p.Asn4749Ile) c.14276A>T (p.Asn4759Ile) c.14192A>T (p.Asn4731Ile) | |
19 | g.38578025C>A | CA405684773 | RYR1 | c.1216C>A c.2613C>A c.2585C>A c.14280C>A (p.Asn4760Lys) c.14265C>A (p.Asn4755Lys) c.14262C>A (p.Asn4754Lys) c.14247C>A (p.Asn4749Lys) c.14277C>A (p.Asn4759Lys) c.14193C>A (p.Asn4731Lys) | |
19 | g.38578025C= | CA2335091326 | RYR1 | c.1216C= c.2613C= c.2585C= c.14280C= (p.Asn4760=) c.14265C= (p.Asn4755=) c.14262C= (p.Asn4754=) c.14247C= (p.Asn4749=) c.14277C= (p.Asn4759=) c.14193C= (p.Asn4731=) | |
19 | g.38578025C>G | CA405684775 | RYR1 | c.1216C>G c.2613C>G c.2585C>G c.14280C>G (p.Asn4760Lys) c.14265C>G (p.Asn4755Lys) c.14262C>G (p.Asn4754Lys) c.14247C>G (p.Asn4749Lys) c.14277C>G (p.Asn4759Lys) c.14193C>G (p.Asn4731Lys) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38578025C>T | CA507245897 | RYR1 | c.1216C>T c.2613C>T c.2585C>T c.14280C>T (p.Asn4760=) c.14265C>T (p.Asn4755=) c.14262C>T (p.Asn4754=) c.14247C>T (p.Asn4749=) c.14277C>T (p.Asn4759=) c.14193C>T (p.Asn4731=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38578026C>A | CA405684778 | RYR1 | c.1217C>A c.2614C>A c.2586C>A c.14281C>A (p.Pro4761Thr) c.14266C>A (p.Pro4756Thr) c.14263C>A (p.Pro4755Thr) c.14248C>A (p.Pro4750Thr) c.14278C>A (p.Pro4760Thr) c.14194C>A (p.Pro4732Thr) | |
19 | g.38578026C>G | CA405684781 | RYR1 | c.1217C>G c.2614C>G c.2586C>G c.14281C>G (p.Pro4761Ala) c.14266C>G (p.Pro4756Ala) c.14263C>G (p.Pro4755Ala) c.14248C>G (p.Pro4750Ala) c.14278C>G (p.Pro4760Ala) c.14194C>G (p.Pro4732Ala) | |
19 | g.38578026C>T | CA405684779 | RYR1 | c.1217C>T c.2614C>T c.2586C>T c.14281C>T (p.Pro4761Ser) c.14266C>T (p.Pro4756Ser) c.14263C>T (p.Pro4755Ser) c.14248C>T (p.Pro4750Ser) c.14278C>T (p.Pro4760Ser) c.14194C>T (p.Pro4732Ser) | |
19 | g.38578027C>A | CA405684785 | RYR1 | c.1218C>A c.2615C>A c.2587C>A c.14282C>A (p.Pro4761Gln) c.14267C>A (p.Pro4756Gln) c.14264C>A (p.Pro4755Gln) c.14249C>A (p.Pro4750Gln) c.14279C>A (p.Pro4760Gln) c.14195C>A (p.Pro4732Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38578027C= | CA2335091327 | RYR1 | c.1218C= c.2615C= c.2587C= c.14282C= (p.Pro4761=) c.14267C= (p.Pro4756=) c.14264C= (p.Pro4755=) c.14249C= (p.Pro4750=) c.14279C= (p.Pro4760=) c.14195C= (p.Pro4732=) | |
19 | g.38578027C>G | CA405684788 | RYR1 | c.1218C>G c.2615C>G c.2587C>G c.14282C>G (p.Pro4761Arg) c.14267C>G (p.Pro4756Arg) c.14264C>G (p.Pro4755Arg) c.14249C>G (p.Pro4750Arg) c.14279C>G (p.Pro4760Arg) c.14195C>G (p.Pro4732Arg) | ClinVar dbSNP |
19 | g.38578027C>T | CA061034 | RYR1 | c.1218C>T c.2615C>T c.2587C>T c.14282C>T (p.Pro4761Leu) c.14267C>T (p.Pro4756Leu) c.14264C>T (p.Pro4755Leu) c.14249C>T (p.Pro4750Leu) c.14279C>T (p.Pro4760Leu) c.14195C>T (p.Pro4732Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38578028G>A | CA061035 | RYR1 | c.1219G>A c.2616G>A c.2588G>A c.14283G>A (p.Pro4761=) c.14268G>A (p.Pro4756=) c.14265G>A (p.Pro4755=) c.14250G>A (p.Pro4750=) c.14280G>A (p.Pro4760=) c.14196G>A (p.Pro4732=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38578028G>C | CA507245898 | RYR1 | c.1219G>C c.2616G>C c.2588G>C c.14283G>C (p.Pro4761=) c.14268G>C (p.Pro4756=) c.14265G>C (p.Pro4755=) c.14250G>C (p.Pro4750=) c.14280G>C (p.Pro4760=) c.14196G>C (p.Pro4732=) | gnomAD v4 |
19 | g.38578028G= | CA2335091328 | RYR1 | c.1219G= c.2616G= c.2588G= c.14283G= (p.Pro4761=) c.14268G= (p.Pro4756=) c.14265G= (p.Pro4755=) c.14250G= (p.Pro4750=) c.14280G= (p.Pro4760=) c.14196G= (p.Pro4732=) | |
19 | g.38578028G>T | CA507245899 | RYR1 | c.1219G>T c.2616G>T c.2588G>T c.14283G>T (p.Pro4761=) c.14268G>T (p.Pro4756=) c.14265G>T (p.Pro4755=) c.14250G>T (p.Pro4750=) c.14280G>T (p.Pro4760=) c.14196G>T (p.Pro4732=) | dbSNP |
19 | g.38578029C>A | CA405684791 | RYR1 | c.1220C>A c.2617C>A c.2589C>A c.14284C>A (p.Pro4762Thr) c.14269C>A (p.Pro4757Thr) c.14266C>A (p.Pro4756Thr) c.14251C>A (p.Pro4751Thr) c.14281C>A (p.Pro4761Thr) c.14197C>A (p.Pro4733Thr) | ClinVar |
19 | g.38578029C= | CA2335091329 | RYR1 | c.1220C= c.2617C= c.2589C= c.14284C= (p.Pro4762=) c.14269C= (p.Pro4757=) c.14266C= (p.Pro4756=) c.14251C= (p.Pro4751=) c.14281C= (p.Pro4761=) c.14197C= (p.Pro4733=) | |
19 | g.38578029C>G | CA061036 | RYR1 | c.1220C>G c.2617C>G c.2589C>G c.14284C>G (p.Pro4762Ala) c.14269C>G (p.Pro4757Ala) c.14266C>G (p.Pro4756Ala) c.14251C>G (p.Pro4751Ala) c.14281C>G (p.Pro4761Ala) c.14197C>G (p.Pro4733Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38578029C>T | CA405684793 | RYR1 | c.1220C>T c.2617C>T c.2589C>T c.14284C>T (p.Pro4762Ser) c.14269C>T (p.Pro4757Ser) c.14266C>T (p.Pro4756Ser) c.14251C>T (p.Pro4751Ser) c.14281C>T (p.Pro4761Ser) c.14197C>T (p.Pro4733Ser) | |
19 | g.38578030C>A | CA405684796 | RYR1 | c.1221C>A c.2618C>A c.2590C>A c.14285C>A (p.Pro4762Gln) c.14270C>A (p.Pro4757Gln) c.14267C>A (p.Pro4756Gln) c.14252C>A (p.Pro4751Gln) c.14282C>A (p.Pro4761Gln) c.14198C>A (p.Pro4733Gln) | |
19 | g.38578030C= | CA2335091330 | RYR1 | c.1221C= c.2618C= c.2590C= c.14285C= (p.Pro4762=) c.14270C= (p.Pro4757=) c.14267C= (p.Pro4756=) c.14252C= (p.Pro4751=) c.14282C= (p.Pro4761=) c.14198C= (p.Pro4733=) | |
19 | g.38578030C>G | CA405684799 | RYR1 | c.1221C>G c.2618C>G c.2590C>G c.14285C>G (p.Pro4762Arg) c.14270C>G (p.Pro4757Arg) c.14267C>G (p.Pro4756Arg) c.14252C>G (p.Pro4751Arg) c.14282C>G (p.Pro4761Arg) c.14198C>G (p.Pro4733Arg) | |
19 | g.38578030C>T | CA061040 | RYR1 | c.1221C>T c.2618C>T c.2590C>T c.14285C>T (p.Pro4762Leu) c.14270C>T (p.Pro4757Leu) c.14267C>T (p.Pro4756Leu) c.14252C>T (p.Pro4751Leu) c.14282C>T (p.Pro4761Leu) c.14198C>T (p.Pro4733Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38578031del | CA2584910697 | RYR1 | c.1222del c.2619del c.2591del c.14286del (p.Pro4763GlnfsTer4) c.14271del (p.Pro4758GlnfsTer4) c.14268del (p.Pro4757GlnfsTer4) c.14253del (p.Pro4752GlnfsTer4) c.14283del (p.Pro4762GlnfsTer4) c.14199del (p.Pro4734GlnfsTer4) | gnomAD v4 |
19 | g.38578031G>A | CA061044 | RYR1 | c.1222G>A c.2619G>A c.2591G>A c.14286G>A (p.Pro4762=) c.14271G>A (p.Pro4757=) c.14268G>A (p.Pro4756=) c.14253G>A (p.Pro4751=) c.14283G>A (p.Pro4761=) c.14199G>A (p.Pro4733=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38578031G>C | CA507245900 | RYR1 | c.1222G>C c.2619G>C c.2591G>C c.14286G>C (p.Pro4762=) c.14271G>C (p.Pro4757=) c.14268G>C (p.Pro4756=) c.14253G>C (p.Pro4751=) c.14283G>C (p.Pro4761=) c.14199G>C (p.Pro4733=) | |
19 | g.38578031G= | CA2335091331 | RYR1 | c.1222G= c.2619G= c.2591G= c.14286G= (p.Pro4762=) c.14271G= (p.Pro4757=) c.14268G= (p.Pro4756=) c.14253G= (p.Pro4751=) c.14283G= (p.Pro4761=) c.14199G= (p.Pro4733=) | |
19 | g.38578031G>T | CA507245901 | RYR1 | c.1222G>T c.2619G>T c.2591G>T c.14286G>T (p.Pro4762=) c.14271G>T (p.Pro4757=) c.14268G>T (p.Pro4756=) c.14253G>T (p.Pro4751=) c.14283G>T (p.Pro4761=) c.14199G>T (p.Pro4733=) | dbSNP gnomAD v4 |
19 | g.38578032C>A | CA405684803 | RYR1 | c.1223C>A c.2620C>A c.2592C>A c.14287C>A (p.Pro4763Thr) c.14272C>A (p.Pro4758Thr) c.14269C>A (p.Pro4757Thr) c.14254C>A (p.Pro4752Thr) c.14284C>A (p.Pro4762Thr) c.14200C>A (p.Pro4734Thr) | |
19 | g.38578032C= | CA2335091332 | RYR1 | c.1223C= c.2620C= c.2592C= c.14287C= (p.Pro4763=) c.14272C= (p.Pro4758=) c.14269C= (p.Pro4757=) c.14254C= (p.Pro4752=) c.14284C= (p.Pro4762=) c.14200C= (p.Pro4734=) | |
19 | g.38578032C>G | CA081155 | RYR1 | c.1223C>G c.2620C>G c.2592C>G c.14287C>G (p.Pro4763Ala) c.14272C>G (p.Pro4758Ala) c.14269C>G (p.Pro4757Ala) c.14254C>G (p.Pro4752Ala) c.14284C>G (p.Pro4762Ala) c.14200C>G (p.Pro4734Ala) | |
19 | g.38578032C>T | CA405684809 | RYR1 | c.1223C>T c.2620C>T c.2592C>T c.14287C>T (p.Pro4763Ser) c.14272C>T (p.Pro4758Ser) c.14269C>T (p.Pro4757Ser) c.14254C>T (p.Pro4752Ser) c.14284C>T (p.Pro4762Ser) c.14200C>T (p.Pro4734Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38578033C>A | CA405684815 | RYR1 | c.1224C>A c.2621C>A c.2593C>A c.14288C>A (p.Pro4763Gln) c.14273C>A (p.Pro4758Gln) c.14270C>A (p.Pro4757Gln) c.14255C>A (p.Pro4752Gln) c.14285C>A (p.Pro4762Gln) c.14201C>A (p.Pro4734Gln) | ClinVar dbSNP gnomAD v4 |
19 | g.38578033C= | CA2335091333 | RYR1 | c.1224C= c.2621C= c.2593C= c.14288C= (p.Pro4763=) c.14273C= (p.Pro4758=) c.14270C= (p.Pro4757=) c.14255C= (p.Pro4752=) c.14285C= (p.Pro4762=) c.14201C= (p.Pro4734=) | |
19 | g.38578033C>G | CA405684812 | RYR1 | c.1224C>G c.2621C>G c.2593C>G c.14288C>G (p.Pro4763Arg) c.14273C>G (p.Pro4758Arg) c.14270C>G (p.Pro4757Arg) c.14255C>G (p.Pro4752Arg) c.14285C>G (p.Pro4762Arg) c.14201C>G (p.Pro4734Arg) | |
19 | g.38578033C>T | CA081156 | RYR1 | c.1224C>T c.2621C>T c.2593C>T c.14288C>T (p.Pro4763Leu) c.14273C>T (p.Pro4758Leu) c.14270C>T (p.Pro4757Leu) c.14255C>T (p.Pro4752Leu) c.14285C>T (p.Pro4762Leu) c.14201C>T (p.Pro4734Leu) | gnomAD v4 |
19 | g.38578034A>C | CA507245902 | RYR1 | c.1225A>C c.2622A>C c.2594A>C c.14289A>C (p.Pro4763=) c.14274A>C (p.Pro4758=) c.14271A>C (p.Pro4757=) c.14256A>C (p.Pro4752=) c.14286A>C (p.Pro4762=) c.14202A>C (p.Pro4734=) | |
19 | g.38578034A>G | CA507245903 | RYR1 | c.1225A>G c.2622A>G c.2594A>G c.14289A>G (p.Pro4763=) c.14274A>G (p.Pro4758=) c.14271A>G (p.Pro4757=) c.14256A>G (p.Pro4752=) c.14286A>G (p.Pro4762=) c.14202A>G (p.Pro4734=) | |
19 | g.38578034A>T | CA507245904 | RYR1 | c.1225A>T c.2622A>T c.2594A>T c.14289A>T (p.Pro4763=) c.14274A>T (p.Pro4758=) c.14271A>T (p.Pro4757=) c.14256A>T (p.Pro4752=) c.14286A>T (p.Pro4762=) c.14202A>T (p.Pro4734=) | |
19 | g.38578035G>A | CA405684817 | RYR1 | c.1226G>A c.2623G>A c.2595G>A c.14290G>A (p.Gly4764Arg) c.14275G>A (p.Gly4759Arg) c.14272G>A (p.Gly4758Arg) c.14257G>A (p.Gly4753Arg) c.14287G>A (p.Gly4763Arg) c.14203G>A (p.Gly4735Arg) | ClinVar COSMIC |
19 | g.38578035G>C | CA061048 | RYR1 | c.1226G>C c.2623G>C c.2595G>C c.14290G>C (p.Gly4764Arg) c.14275G>C (p.Gly4759Arg) c.14272G>C (p.Gly4758Arg) c.14257G>C (p.Gly4753Arg) c.14287G>C (p.Gly4763Arg) c.14203G>C (p.Gly4735Arg) | dbSNP ExAC gnomAD v2 |
19 | g.38578035G= | CA2335091334 | RYR1 | c.1226G= c.2623G= c.2595G= c.14290G= (p.Gly4764=) c.14275G= (p.Gly4759=) c.14272G= (p.Gly4758=) c.14257G= (p.Gly4753=) c.14287G= (p.Gly4763=) c.14203G= (p.Gly4735=) | |
19 | g.38578035G>T | CA405684820 | RYR1 | c.1226G>T c.2623G>T c.2595G>T c.14290G>T (p.Gly4764Trp) c.14275G>T (p.Gly4759Trp) c.14272G>T (p.Gly4758Trp) c.14257G>T (p.Gly4753Trp) c.14287G>T (p.Gly4763Trp) c.14203G>T (p.Gly4735Trp) | |
19 | g.38578036G>A | CA405684827 | RYR1 | c.1227G>A c.2624G>A c.2596G>A c.14291G>A (p.Gly4764Glu) c.14276G>A (p.Gly4759Glu) c.14273G>A (p.Gly4758Glu) c.14258G>A (p.Gly4753Glu) c.14288G>A (p.Gly4763Glu) c.14204G>A (p.Gly4735Glu) | ClinVar dbSNP |
19 | g.38578036G>C | CA405684829 | RYR1 | c.1227G>C c.2624G>C c.2596G>C c.14291G>C (p.Gly4764Ala) c.14276G>C (p.Gly4759Ala) c.14273G>C (p.Gly4758Ala) c.14258G>C (p.Gly4753Ala) c.14288G>C (p.Gly4763Ala) c.14204G>C (p.Gly4735Ala) | |
19 | g.38578036G= | CA2335091335 | RYR1 | c.1227G= c.2624G= c.2596G= c.14291G= (p.Gly4764=) c.14276G= (p.Gly4759=) c.14273G= (p.Gly4758=) c.14258G= (p.Gly4753=) c.14288G= (p.Gly4763=) c.14204G= (p.Gly4735=) | |
19 | g.38578036G>T | CA405684831 | RYR1 | c.1227G>T c.2624G>T c.2596G>T c.14291G>T (p.Gly4764Val) c.14276G>T (p.Gly4759Val) c.14273G>T (p.Gly4758Val) c.14258G>T (p.Gly4753Val) c.14288G>T (p.Gly4763Val) c.14204G>T (p.Gly4735Val) | |
19 | g.38578037G>A | CA507245905 | RYR1 | c.1228G>A c.2625G>A c.2597G>A c.14292G>A (p.Gly4764=) c.14277G>A (p.Gly4759=) c.14274G>A (p.Gly4758=) c.14259G>A (p.Gly4753=) c.14289G>A (p.Gly4763=) c.14205G>A (p.Gly4735=) | gnomAD v4 |
19 | g.38578037G>C | CA507245907 | RYR1 | c.1228G>C c.2625G>C c.2597G>C c.14292G>C (p.Gly4764=) c.14277G>C (p.Gly4759=) c.14274G>C (p.Gly4758=) c.14259G>C (p.Gly4753=) c.14289G>C (p.Gly4763=) c.14205G>C (p.Gly4735=) | |
19 | g.38578037G>T | CA507245906 | RYR1 | c.1228G>T c.2625G>T c.2597G>T c.14292G>T (p.Gly4764=) c.14277G>T (p.Gly4759=) c.14274G>T (p.Gly4758=) c.14259G>T (p.Gly4753=) c.14289G>T (p.Gly4763=) c.14205G>T (p.Gly4735=) | gnomAD v4 |
19 | g.38578038C>A | CA405684832 | RYR1 | c.1229C>A c.2626C>A c.2598C>A c.14293C>A (p.Leu4765Met) c.14278C>A (p.Leu4760Met) c.14275C>A (p.Leu4759Met) c.14260C>A (p.Leu4754Met) c.14290C>A (p.Leu4764Met) c.14206C>A (p.Leu4736Met) | |
19 | g.38578038C= | CA2335091336 | RYR1 | c.1229C= c.2626C= c.2598C= c.14293C= (p.Leu4765=) c.14278C= (p.Leu4760=) c.14275C= (p.Leu4759=) c.14260C= (p.Leu4754=) c.14290C= (p.Leu4764=) c.14206C= (p.Leu4736=) | |
19 | g.38578038C>G | CA061051 | RYR1 | c.1229C>G c.2626C>G c.2598C>G c.14293C>G (p.Leu4765Val) c.14278C>G (p.Leu4760Val) c.14275C>G (p.Leu4759Val) c.14260C>G (p.Leu4754Val) c.14290C>G (p.Leu4764Val) c.14206C>G (p.Leu4736Val) | dbSNP ExAC gnomAD v2 |
19 | g.38578038C>T | CA507245908 | RYR1 | c.1229C>T c.2626C>T c.2598C>T c.14293C>T (p.Leu4765=) c.14278C>T (p.Leu4760=) c.14275C>T (p.Leu4759=) c.14260C>T (p.Leu4754=) c.14290C>T (p.Leu4764=) c.14206C>T (p.Leu4736=) | |
19 | g.38578039T>A | CA405684833 | RYR1 | c.1230T>A c.2627T>A c.2599T>A c.14294T>A (p.Leu4765Gln) c.14279T>A (p.Leu4760Gln) c.14276T>A (p.Leu4759Gln) c.14261T>A (p.Leu4754Gln) c.14291T>A (p.Leu4764Gln) c.14207T>A (p.Leu4736Gln) | |
19 | g.38578039T>C | CA405684835 | RYR1 | c.1230T>C c.2627T>C c.2599T>C c.14294T>C (p.Leu4765Pro) c.14279T>C (p.Leu4760Pro) c.14276T>C (p.Leu4759Pro) c.14261T>C (p.Leu4754Pro) c.14291T>C (p.Leu4764Pro) c.14207T>C (p.Leu4736Pro) | |
19 | g.38578039T>G | CA405684837 | RYR1 | c.1230T>G c.2627T>G c.2599T>G c.14294T>G (p.Leu4765Arg) c.14279T>G (p.Leu4760Arg) c.14276T>G (p.Leu4759Arg) c.14261T>G (p.Leu4754Arg) c.14291T>G (p.Leu4764Arg) c.14207T>G (p.Leu4736Arg) | |
19 | g.38578040G>A | CA507245909 | RYR1 | c.1231G>A c.2628G>A c.2600G>A c.14295G>A (p.Leu4765=) c.14280G>A (p.Leu4760=) c.14277G>A (p.Leu4759=) c.14262G>A (p.Leu4754=) c.14292G>A (p.Leu4764=) c.14208G>A (p.Leu4736=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38578040G>C | CA507245910 | RYR1 | c.1231G>C c.2628G>C c.2600G>C c.14295G>C (p.Leu4765=) c.14280G>C (p.Leu4760=) c.14277G>C (p.Leu4759=) c.14262G>C (p.Leu4754=) c.14292G>C (p.Leu4764=) c.14208G>C (p.Leu4736=) | |
19 | g.38578040G= | CA2335091337 | RYR1 | c.1231G= c.2628G= c.2600G= c.14295G= (p.Leu4765=) c.14280G= (p.Leu4760=) c.14277G= (p.Leu4759=) c.14262G= (p.Leu4754=) c.14292G= (p.Leu4764=) c.14208G= (p.Leu4736=) | |
19 | g.38578040G>T | CA507245911 | RYR1 | c.1231G>T c.2628G>T c.2600G>T c.14295G>T (p.Leu4765=) c.14280G>T (p.Leu4760=) c.14277G>T (p.Leu4759=) c.14262G>T (p.Leu4754=) c.14292G>T (p.Leu4764=) c.14208G>T (p.Leu4736=) | |
19 | g.38578041C>A | CA405684839 | RYR1 | c.1232C>A c.2629C>A c.2601C>A c.14296C>A (p.Leu4766Met) c.14281C>A (p.Leu4761Met) c.14278C>A (p.Leu4760Met) c.14263C>A (p.Leu4755Met) c.14293C>A (p.Leu4765Met) c.14209C>A (p.Leu4737Met) | |
19 | g.38578041C= | CA2335091338 | RYR1 | c.1232C= c.2629C= c.2601C= c.14296C= (p.Leu4766=) c.14281C= (p.Leu4761=) c.14278C= (p.Leu4760=) c.14263C= (p.Leu4755=) c.14293C= (p.Leu4765=) c.14209C= (p.Leu4737=) | |
19 | g.38578041C>G | CA081159 | RYR1 | c.1232C>G c.2629C>G c.2601C>G c.14296C>G (p.Leu4766Val) c.14281C>G (p.Leu4761Val) c.14278C>G (p.Leu4760Val) c.14263C>G (p.Leu4755Val) c.14293C>G (p.Leu4765Val) c.14209C>G (p.Leu4737Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38578041C>T | CA507245912 | RYR1 | c.1232C>T c.2629C>T c.2601C>T c.14296C>T (p.Leu4766=) c.14281C>T (p.Leu4761=) c.14278C>T (p.Leu4760=) c.14263C>T (p.Leu4755=) c.14293C>T (p.Leu4765=) c.14209C>T (p.Leu4737=) | |
19 | g.38578042T>A | CA405684841 | RYR1 | c.1233T>A c.2630T>A c.2602T>A c.14297T>A (p.Leu4766Gln) c.14282T>A (p.Leu4761Gln) c.14279T>A (p.Leu4760Gln) c.14264T>A (p.Leu4755Gln) c.14294T>A (p.Leu4765Gln) c.14210T>A (p.Leu4737Gln) | |
19 | g.38578042T>C | CA405684843 | RYR1 | c.1233T>C c.2630T>C c.2602T>C c.14297T>C (p.Leu4766Pro) c.14282T>C (p.Leu4761Pro) c.14279T>C (p.Leu4760Pro) c.14264T>C (p.Leu4755Pro) c.14294T>C (p.Leu4765Pro) c.14210T>C (p.Leu4737Pro) | |
19 | g.38578042T>G | CA405684845 | RYR1 | c.1233T>G c.2630T>G c.2602T>G c.14297T>G (p.Leu4766Arg) c.14282T>G (p.Leu4761Arg) c.14279T>G (p.Leu4760Arg) c.14264T>G (p.Leu4755Arg) c.14294T>G (p.Leu4765Arg) c.14210T>G (p.Leu4737Arg) | |
19 | g.38578043G>A | CA507245915 | RYR1 | c.1234G>A c.2631G>A c.2603G>A c.14298G>A (p.Leu4766=) c.14283G>A (p.Leu4761=) c.14280G>A (p.Leu4760=) c.14265G>A (p.Leu4755=) c.14295G>A (p.Leu4765=) c.14211G>A (p.Leu4737=) | ClinVar dbSNP gnomAD v4 |
19 | g.38578043G>C | CA507245913 | RYR1 | c.1234G>C c.2631G>C c.2603G>C c.14298G>C (p.Leu4766=) c.14283G>C (p.Leu4761=) c.14280G>C (p.Leu4760=) c.14265G>C (p.Leu4755=) c.14295G>C (p.Leu4765=) c.14211G>C (p.Leu4737=) | |
19 | g.38578043G>T | CA507245914 | RYR1 | c.1234G>T c.2631G>T c.2603G>T c.14298G>T (p.Leu4766=) c.14283G>T (p.Leu4761=) c.14280G>T (p.Leu4760=) c.14265G>T (p.Leu4755=) c.14295G>T (p.Leu4765=) c.14211G>T (p.Leu4737=) | |
19 | g.38578044A= | CA2335091339 | RYR1 | c.1235A= c.2632A= c.2604A= c.14299A= (p.Thr4767=) c.14284A= (p.Thr4762=) c.14281A= (p.Thr4761=) c.14266A= (p.Thr4756=) c.14296A= (p.Thr4766=) c.14212A= (p.Thr4738=) | |
19 | g.38578044A>C | CA405684847 | RYR1 | c.1235A>C c.2632A>C c.2604A>C c.14299A>C (p.Thr4767Pro) c.14284A>C (p.Thr4762Pro) c.14281A>C (p.Thr4761Pro) c.14266A>C (p.Thr4756Pro) c.14296A>C (p.Thr4766Pro) c.14212A>C (p.Thr4738Pro) | |
19 | g.38578044A>G | CA308120183 | RYR1 | c.1235A>G c.2632A>G c.2604A>G c.14299A>G (p.Thr4767Ala) c.14284A>G (p.Thr4762Ala) c.14281A>G (p.Thr4761Ala) c.14266A>G (p.Thr4756Ala) c.14296A>G (p.Thr4766Ala) c.14212A>G (p.Thr4738Ala) | dbSNP gnomAD v4 |
19 | g.38578044A>T | CA405684850 | RYR1 | c.1235A>T c.2632A>T c.2604A>T c.14299A>T (p.Thr4767Ser) c.14284A>T (p.Thr4762Ser) c.14281A>T (p.Thr4761Ser) c.14266A>T (p.Thr4756Ser) c.14296A>T (p.Thr4766Ser) c.14212A>T (p.Thr4738Ser) | |
19 | g.38578045C>A | CA405684853 | RYR1 | c.1236C>A c.2633C>A c.2605C>A c.14300C>A (p.Thr4767Asn) c.14285C>A (p.Thr4762Asn) c.14282C>A (p.Thr4761Asn) c.14267C>A (p.Thr4756Asn) c.14297C>A (p.Thr4766Asn) c.14213C>A (p.Thr4738Asn) | |
19 | g.38578045C= | CA2335091340 | RYR1 | c.1236C= c.2633C= c.2605C= c.14300C= (p.Thr4767=) c.14285C= (p.Thr4762=) c.14282C= (p.Thr4761=) c.14267C= (p.Thr4756=) c.14297C= (p.Thr4766=) c.14213C= (p.Thr4738=) | |
19 | g.38578045C>G | CA405684854 | RYR1 | c.1236C>G c.2633C>G c.2605C>G c.14300C>G (p.Thr4767Ser) c.14285C>G (p.Thr4762Ser) c.14282C>G (p.Thr4761Ser) c.14267C>G (p.Thr4756Ser) c.14297C>G (p.Thr4766Ser) c.14213C>G (p.Thr4738Ser) | dbSNP |
19 | g.38578045C>T | CA405684856 | RYR1 | c.1236C>T c.2633C>T c.2605C>T c.14300C>T (p.Thr4767Ile) c.14285C>T (p.Thr4762Ile) c.14282C>T (p.Thr4761Ile) c.14267C>T (p.Thr4756Ile) c.14297C>T (p.Thr4766Ile) c.14213C>T (p.Thr4738Ile) | |
19 | g.38578046C>A | CA507245916 | RYR1 | c.1237C>A c.2634C>A c.2606C>A c.14301C>A (p.Thr4767=) c.14286C>A (p.Thr4762=) c.14283C>A (p.Thr4761=) c.14268C>A (p.Thr4756=) c.14298C>A (p.Thr4766=) c.14214C>A (p.Thr4738=) | |
19 | g.38578046C= | CA2335091341 | RYR1 | c.1237C= c.2634C= c.2606C= c.14301C= (p.Thr4767=) c.14286C= (p.Thr4762=) c.14283C= (p.Thr4761=) c.14268C= (p.Thr4756=) c.14298C= (p.Thr4766=) c.14214C= (p.Thr4738=) | |
19 | g.38578046C>G | CA507245917 | RYR1 | c.1237C>G c.2634C>G c.2606C>G c.14301C>G (p.Thr4767=) c.14286C>G (p.Thr4762=) c.14283C>G (p.Thr4761=) c.14268C>G (p.Thr4756=) c.14298C>G (p.Thr4766=) c.14214C>G (p.Thr4738=) | |
19 | g.38578046C>T | CA308120184 | RYR1 | c.1237C>T c.2634C>T c.2606C>T c.14301C>T (p.Thr4767=) c.14286C>T (p.Thr4762=) c.14283C>T (p.Thr4761=) c.14268C>T (p.Thr4756=) c.14298C>T (p.Thr4766=) c.14214C>T (p.Thr4738=) | dbSNP |
19 | g.38578047T>A | CA405684859 | RYR1 | c.1238T>A c.2635T>A c.2607T>A c.14302T>A (p.Trp4768Arg) c.14287T>A (p.Trp4763Arg) c.14284T>A (p.Trp4762Arg) c.14269T>A (p.Trp4757Arg) c.14299T>A (p.Trp4767Arg) c.14215T>A (p.Trp4739Arg) | |
19 | g.38578047T>C | CA405684862 | RYR1 | c.1238T>C c.2635T>C c.2607T>C c.14302T>C (p.Trp4768Arg) c.14287T>C (p.Trp4763Arg) c.14284T>C (p.Trp4762Arg) c.14269T>C (p.Trp4757Arg) c.14299T>C (p.Trp4767Arg) c.14215T>C (p.Trp4739Arg) | |
19 | g.38578047T>G | CA405684865 | RYR1 | c.1238T>G c.2635T>G c.2607T>G c.14302T>G (p.Trp4768Gly) c.14287T>G (p.Trp4763Gly) c.14284T>G (p.Trp4762Gly) c.14269T>G (p.Trp4757Gly) c.14299T>G (p.Trp4767Gly) c.14215T>G (p.Trp4739Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38578047T= | CA2335091342 | RYR1 | c.1238T= c.2635T= c.2607T= c.14302T= (p.Trp4768=) c.14287T= (p.Trp4763=) c.14284T= (p.Trp4762=) c.14269T= (p.Trp4757=) c.14299T= (p.Trp4767=) c.14215T= (p.Trp4739=) | |
19 | g.38578048G>A | CA405684871 | RYR1 | c.1239G>A c.2636G>A c.2608G>A c.14303G>A (p.Trp4768Ter) c.14288G>A (p.Trp4763Ter) c.14285G>A (p.Trp4762Ter) c.14270G>A (p.Trp4757Ter) c.14300G>A (p.Trp4767Ter) c.14216G>A (p.Trp4739Ter) | |
19 | g.38578048G>C | CA405684878 | RYR1 | c.1239G>C c.2636G>C c.2608G>C c.14303G>C (p.Trp4768Ser) c.14288G>C (p.Trp4763Ser) c.14285G>C (p.Trp4762Ser) c.14270G>C (p.Trp4757Ser) c.14300G>C (p.Trp4767Ser) c.14216G>C (p.Trp4739Ser) | |
19 | g.38578048G>T | CA405684867 | RYR1 | c.1239G>T c.2636G>T c.2608G>T c.14303G>T (p.Trp4768Leu) c.14288G>T (p.Trp4763Leu) c.14285G>T (p.Trp4762Leu) c.14270G>T (p.Trp4757Leu) c.14300G>T (p.Trp4767Leu) c.14216G>T (p.Trp4739Leu) | |
19 | g.38578049G>A | CA405684880 | RYR1 | c.1239+1G>A c.2636+1G>A c.2608+1G>A c.14303+1G>A (n.14303+1G>A) c.14288+1G>A (n.14288+1G>A) c.14285+1G>A (n.14285+1G>A) c.14270+1G>A (n.14270+1G>A) c.14300+1G>A (n.14300+1G>A) c.14216+1G>A (n.14216+1G>A) | COSMIC |
19 | g.38578049G>C | CA405684883 | RYR1 | c.1239+1G>C c.2636+1G>C c.2608+1G>C c.14303+1G>C (n.14303+1G>C) c.14288+1G>C (n.14288+1G>C) c.14285+1G>C (n.14285+1G>C) c.14270+1G>C (n.14270+1G>C) c.14300+1G>C (n.14300+1G>C) c.14216+1G>C (n.14216+1G>C) | |
19 | g.38578049G>T | CA405684884 | RYR1 | c.1239+1G>T c.2636+1G>T c.2608+1G>T c.14303+1G>T (n.14303+1G>T) c.14288+1G>T (n.14288+1G>T) c.14285+1G>T (n.14285+1G>T) c.14270+1G>T (n.14270+1G>T) c.14300+1G>T (n.14300+1G>T) c.14216+1G>T (n.14216+1G>T) | COSMIC |
19 | g.38578050T>A | CA405684886 | RYR1 | c.1239+2T>A c.2636+2T>A c.2608+2T>A c.14303+2T>A (n.14303+2T>A) c.14288+2T>A (n.14288+2T>A) c.14285+2T>A (n.14285+2T>A) c.14270+2T>A (n.14270+2T>A) c.14300+2T>A (n.14300+2T>A) c.14216+2T>A (n.14216+2T>A) | |
19 | g.38578050T>C | CA405684889 | RYR1 | c.1239+2T>C c.2636+2T>C c.2608+2T>C c.14303+2T>C (n.14303+2T>C) c.14288+2T>C (n.14288+2T>C) c.14285+2T>C (n.14285+2T>C) c.14270+2T>C (n.14270+2T>C) c.14300+2T>C (n.14300+2T>C) c.14216+2T>C (n.14216+2T>C) | |
19 | g.38578050T>G | CA405684894 | RYR1 | c.1239+2T>G c.2636+2T>G c.2608+2T>G c.14303+2T>G (n.14303+2T>G) c.14288+2T>G (n.14288+2T>G) c.14285+2T>G (n.14285+2T>G) c.14270+2T>G (n.14270+2T>G) c.14300+2T>G (n.14300+2T>G) c.14216+2T>G (n.14216+2T>G) | |
19 | g.38578054C>A | CA2584910698 | RYR1 | c.1239+6C>A c.2636+6C>A c.2608+6C>A c.14303+6C>A (n.14303+6C>A) c.14288+6C>A (n.14288+6C>A) c.14285+6C>A (n.14285+6C>A) c.14270+6C>A (n.14270+6C>A) c.14300+6C>A (n.14300+6C>A) c.14216+6C>A (n.14216+6C>A) | gnomAD v4 |
19 | g.38578054C= | CA2335091343 | RYR1 | c.1239+6C= c.2636+6C= c.2608+6C= c.14303+6C= (n.14303+6C=) c.14288+6C= (n.14288+6C=) c.14285+6C= (n.14285+6C=) c.14270+6C= (n.14270+6C=) c.14300+6C= (n.14300+6C=) c.14216+6C= (n.14216+6C=) | |
19 | g.38578054C>T | CA2335091344 | RYR1 | c.1239+6C>T c.2636+6C>T c.2608+6C>T c.14303+6C>T (n.14303+6C>T) c.14288+6C>T (n.14288+6C>T) c.14285+6C>T (n.14285+6C>T) c.14270+6C>T (n.14270+6C>T) c.14300+6C>T (n.14300+6C>T) c.14216+6C>T (n.14216+6C>T) | dbSNP |
19 | g.38578056C>G | CA2584910699 | RYR1 | c.1239+8C>G c.2636+8C>G c.2608+8C>G c.14303+8C>G (n.14303+8C>G) c.14288+8C>G (n.14288+8C>G) c.14285+8C>G (n.14285+8C>G) c.14270+8C>G (n.14270+8C>G) c.14300+8C>G (n.14300+8C>G) c.14216+8C>G (n.14216+8C>G) | ClinVar gnomAD v4 |
19 | g.38578057A= | CA2335091345 | RYR1 | c.1239+9A= c.2636+9A= c.2608+9A= c.14303+9A= (n.14303+9A=) c.14288+9A= (n.14288+9A=) c.14285+9A= (n.14285+9A=) c.14270+9A= (n.14270+9A=) c.14300+9A= (n.14300+9A=) c.14216+9A= (n.14216+9A=) | |
19 | g.38578057A>G | CA882064289 | RYR1 | c.1239+9A>G c.2636+9A>G c.2608+9A>G c.14303+9A>G (n.14303+9A>G) c.14288+9A>G (n.14288+9A>G) c.14285+9A>G (n.14285+9A>G) c.14270+9A>G (n.14270+9A>G) c.14300+9A>G (n.14300+9A>G) c.14216+9A>G (n.14216+9A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38578058G>C | CA2584910700 | RYR1 | c.1239+10G>C c.2636+10G>C c.2608+10G>C c.14303+10G>C (n.14303+10G>C) c.14288+10G>C (n.14288+10G>C) c.14285+10G>C (n.14285+10G>C) c.14270+10G>C (n.14270+10G>C) c.14300+10G>C (n.14300+10G>C) c.14216+10G>C (n.14216+10G>C) | gnomAD v4 |
19 | g.38578061C>T | CA2584910701 | RYR1 | c.1239+13C>T c.2636+13C>T c.2608+13C>T c.14303+13C>T (n.14303+13C>T) c.14288+13C>T (n.14288+13C>T) c.14285+13C>T (n.14285+13C>T) c.14270+13C>T (n.14270+13C>T) c.14300+13C>T (n.14300+13C>T) c.14216+13C>T (n.14216+13C>T) | gnomAD v4 |
19 | g.38578062A>G | CA2739276758 | RYR1 | c.1239+14A>G c.2636+14A>G c.2608+14A>G c.14303+14A>G (n.14303+14A>G) c.14288+14A>G (n.14288+14A>G) c.14285+14A>G (n.14285+14A>G) c.14270+14A>G (n.14270+14A>G) c.14300+14A>G (n.14300+14A>G) c.14216+14A>G (n.14216+14A>G) | ClinVar |
19 | g.38578063C>A | CA061055 | RYR1 | c.1239+15C>A c.2636+15C>A c.2608+15C>A c.14303+15C>A (n.14303+15C>A) c.14288+15C>A (n.14288+15C>A) c.14285+15C>A (n.14285+15C>A) c.14270+15C>A (n.14270+15C>A) c.14300+15C>A (n.14300+15C>A) c.14216+15C>A (n.14216+15C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38578063C= | CA2335091346 | RYR1 | c.1239+15C= c.2636+15C= c.2608+15C= c.14303+15C= (n.14303+15C=) c.14288+15C= (n.14288+15C=) c.14285+15C= (n.14285+15C=) c.14270+15C= (n.14270+15C=) c.14300+15C= (n.14300+15C=) c.14216+15C= (n.14216+15C=) | |
19 | g.38578063C>T | CA308120189 | RYR1 | c.1239+15C>T c.2636+15C>T c.2608+15C>T c.14303+15C>T (n.14303+15C>T) c.14288+15C>T (n.14288+15C>T) c.14285+15C>T (n.14285+15C>T) c.14270+15C>T (n.14270+15C>T) c.14300+15C>T (n.14300+15C>T) c.14216+15C>T (n.14216+15C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38578064C>A | CA2814346172 | RYR1 | c.1239+16C>A c.2636+16C>A c.2608+16C>A c.14303+16C>A (n.14303+16C>A) c.14288+16C>A (n.14288+16C>A) c.14285+16C>A (n.14285+16C>A) c.14270+16C>A (n.14270+16C>A) c.14300+16C>A (n.14300+16C>A) c.14216+16C>A (n.14216+16C>A) | |
19 | g.38578064C>T | CA2739276759 | RYR1 | c.1239+16C>T c.2636+16C>T c.2608+16C>T c.14303+16C>T (n.14303+16C>T) c.14288+16C>T (n.14288+16C>T) c.14285+16C>T (n.14285+16C>T) c.14270+16C>T (n.14270+16C>T) c.14300+16C>T (n.14300+16C>T) c.14216+16C>T (n.14216+16C>T) | ClinVar |
19 | g.38578065C= | CA2335091347 | RYR1 | c.1239+17C= c.2636+17C= c.2608+17C= c.14303+17C= (n.14303+17C=) c.14288+17C= (n.14288+17C=) c.14285+17C= (n.14285+17C=) c.14270+17C= (n.14270+17C=) c.14300+17C= (n.14300+17C=) c.14216+17C= (n.14216+17C=) | |
19 | g.38578065C>G | CA061056 | RYR1 | c.1239+17C>G c.2636+17C>G c.2608+17C>G c.14303+17C>G (n.14303+17C>G) c.14288+17C>G (n.14288+17C>G) c.14285+17C>G (n.14285+17C>G) c.14270+17C>G (n.14270+17C>G) c.14300+17C>G (n.14300+17C>G) c.14216+17C>G (n.14216+17C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38578065C>T | CA308120190 | RYR1 | c.1239+17C>T c.2636+17C>T c.2608+17C>T c.14303+17C>T (n.14303+17C>T) c.14288+17C>T (n.14288+17C>T) c.14285+17C>T (n.14285+17C>T) c.14270+17C>T (n.14270+17C>T) c.14300+17C>T (n.14300+17C>T) c.14216+17C>T (n.14216+17C>T) | dbSNP |
19 | g.38578066C= | CA2335091348 | RYR1 | c.1239+18C= c.2636+18C= c.2608+18C= c.14303+18C= (n.14303+18C=) c.14288+18C= (n.14288+18C=) c.14285+18C= (n.14285+18C=) c.14270+18C= (n.14270+18C=) c.14300+18C= (n.14300+18C=) c.14216+18C= (n.14216+18C=) | |
19 | g.38578066C>T | CA882064290 | RYR1 | c.1239+18C>T c.2636+18C>T c.2608+18C>T c.14303+18C>T (n.14303+18C>T) c.14288+18C>T (n.14288+18C>T) c.14285+18C>T (n.14285+18C>T) c.14270+18C>T (n.14270+18C>T) c.14300+18C>T (n.14300+18C>T) c.14216+18C>T (n.14216+18C>T) | dbSNP |
19 | g.38578067_38578068del | CA2814346174 | RYR1 | c.1239+19_1239+20del c.2636+19_2636+20del c.2608+19_2608+20del c.14303+19_14303+20del (n.14303+19_14303+20del) c.14288+19_14288+20del (n.14288+19_14288+20del) c.14285+19_14285+20del (n.14285+19_14285+20del) c.14270+19_14270+20del (n.14270+19_14270+20del) c.14300+19_14300+20del (n.14300+19_14300+20del) c.14216+19_14216+20del (n.14216+19_14216+20del) | |
19 | g.38578068G>A | CA2584910702 | RYR1 | c.1239+20G>A c.2636+20G>A c.2608+20G>A c.14303+20G>A (n.14303+20G>A) c.14288+20G>A (n.14288+20G>A) c.14285+20G>A (n.14285+20G>A) c.14270+20G>A (n.14270+20G>A) c.14300+20G>A (n.14300+20G>A) c.14216+20G>A (n.14216+20G>A) | gnomAD v4 |
19 | g.38578070A= | CA2335091349 | RYR1 | c.1239+22A= c.2636+22A= c.2608+22A= c.14303+22A= (n.14303+22A=) c.14288+22A= (n.14288+22A=) c.14285+22A= (n.14285+22A=) c.14270+22A= (n.14270+22A=) c.14300+22A= (n.14300+22A=) c.14216+22A= (n.14216+22A=) | |
19 | g.38578070A>G | CA2584910703 | RYR1 | c.1239+22A>G c.2636+22A>G c.2608+22A>G c.14303+22A>G (n.14303+22A>G) c.14288+22A>G (n.14288+22A>G) c.14285+22A>G (n.14285+22A>G) c.14270+22A>G (n.14270+22A>G) c.14300+22A>G (n.14300+22A>G) c.14216+22A>G (n.14216+22A>G) | gnomAD v4 |
19 | g.38578070A>T | CA061060 | RYR1 | c.1239+22A>T c.2636+22A>T c.2608+22A>T c.14303+22A>T (n.14303+22A>T) c.14288+22A>T (n.14288+22A>T) c.14285+22A>T (n.14285+22A>T) c.14270+22A>T (n.14270+22A>T) c.14300+22A>T (n.14300+22A>T) c.14216+22A>T (n.14216+22A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38578071C= | CA2335091350 | RYR1 | c.1239+23C= c.2636+23C= c.2608+23C= c.14303+23C= (n.14303+23C=) c.14288+23C= (n.14288+23C=) c.14285+23C= (n.14285+23C=) c.14270+23C= (n.14270+23C=) c.14300+23C= (n.14300+23C=) c.14216+23C= (n.14216+23C=) | |
19 | g.38578071C>T | CA308120194 | RYR1 | c.1239+23C>T c.2636+23C>T c.2608+23C>T c.14303+23C>T (n.14303+23C>T) c.14288+23C>T (n.14288+23C>T) c.14285+23C>T (n.14285+23C>T) c.14270+23C>T (n.14270+23C>T) c.14300+23C>T (n.14300+23C>T) c.14216+23C>T (n.14216+23C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38578073G>A | CA2584910704 | RYR1 | c.1239+25G>A c.2636+25G>A c.2608+25G>A c.14303+25G>A (n.14303+25G>A) c.14288+25G>A (n.14288+25G>A) c.14285+25G>A (n.14285+25G>A) c.14270+25G>A (n.14270+25G>A) c.14300+25G>A (n.14300+25G>A) c.14216+25G>A (n.14216+25G>A) | gnomAD v4 |
19 | g.38578075C>T | CA657387731 | RYR1 | c.1239+27C>T c.2636+27C>T c.2608+27C>T c.14303+27C>T (n.14303+27C>T) c.14288+27C>T (n.14288+27C>T) c.14285+27C>T (n.14285+27C>T) c.14270+27C>T (n.14270+27C>T) c.14300+27C>T (n.14300+27C>T) c.14216+27C>T (n.14216+27C>T) | COSMIC |
19 | g.38578076C>T | CA2576827476 | RYR1 | c.1239+28C>T c.2636+28C>T c.2608+28C>T c.14303+28C>T (n.14303+28C>T) c.14288+28C>T (n.14288+28C>T) c.14285+28C>T (n.14285+28C>T) c.14270+28C>T (n.14270+28C>T) c.14300+28C>T (n.14300+28C>T) c.14216+28C>T (n.14216+28C>T) | |
19 | g.38578077_38578078delinsTG | CA2335091351 | RYR1 | c.1239+29_1239+30delinsTG c.2636+29_2636+30delinsTG c.2608+29_2608+30delinsTG c.14303+29_14303+30delinsTG (n.14303+29_14303+30delinsTG) c.14288+29_14288+30delinsTG (n.14288+29_14288+30delinsTG) c.14285+29_14285+30delinsTG (n.14285+29_14285+30delinsTG) c.14270+29_14270+30delinsTG (n.14270+29_14270+30delinsTG) c.14300+29_14300+30delinsTG (n.14300+29_14300+30delinsTG) c.14216+29_14216+30delinsTG (n.14216+29_14216+30delinsTG) | |
19 | g.38578078G>C | CA061063 | RYR1 | c.1239+30G>C c.2636+30G>C c.2608+30G>C c.14303+30G>C (n.14303+30G>C) c.14288+30G>C (n.14288+30G>C) c.14285+30G>C (n.14285+30G>C) c.14270+30G>C (n.14270+30G>C) c.14300+30G>C (n.14300+30G>C) c.14216+30G>C (n.14216+30G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38578078G= | CA2335091352 | RYR1 | c.1239+30G= c.2636+30G= c.2608+30G= c.14303+30G= (n.14303+30G=) c.14288+30G= (n.14288+30G=) c.14285+30G= (n.14285+30G=) c.14270+30G= (n.14270+30G=) c.14300+30G= (n.14300+30G=) c.14216+30G= (n.14216+30G=) | |
19 | g.38578081del | CA632876595 | RYR1 | c.1239+33del c.2636+33del c.2608+33del c.14303+33del (n.14303+33del) c.14288+33del (n.14288+33del) c.14285+33del (n.14285+33del) c.14270+33del (n.14270+33del) c.14300+33del (n.14300+33del) c.14216+33del (n.14216+33del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38578079G>A | CA061067 | RYR1 | c.1239+31G>A c.2636+31G>A c.2608+31G>A c.14303+31G>A (n.14303+31G>A) c.14288+31G>A (n.14288+31G>A) c.14285+31G>A (n.14285+31G>A) c.14270+31G>A (n.14270+31G>A) c.14300+31G>A (n.14300+31G>A) c.14216+31G>A (n.14216+31G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38578079G= | CA2335091353 | RYR1 | c.1239+31G= c.2636+31G= c.2608+31G= c.14303+31G= (n.14303+31G=) c.14288+31G= (n.14288+31G=) c.14285+31G= (n.14285+31G=) c.14270+31G= (n.14270+31G=) c.14300+31G= (n.14300+31G=) c.14216+31G= (n.14216+31G=) | |
19 | g.38578080G= | CA2335091354 | RYR1 | c.1239+32G= c.2636+32G= c.2608+32G= c.14303+32G= (n.14303+32G=) c.14288+32G= (n.14288+32G=) c.14285+32G= (n.14285+32G=) c.14270+32G= (n.14270+32G=) c.14300+32G= (n.14300+32G=) c.14216+32G= (n.14216+32G=) | |
19 | g.38578080G>T | CA061069 | RYR1 | c.1239+32G>T c.2636+32G>T c.2608+32G>T c.14303+32G>T (n.14303+32G>T) c.14288+32G>T (n.14288+32G>T) c.14285+32G>T (n.14285+32G>T) c.14270+32G>T (n.14270+32G>T) c.14300+32G>T (n.14300+32G>T) c.14216+32G>T (n.14216+32G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38578081G>A | CA061071 | RYR1 | c.1239+33G>A c.2636+33G>A c.2608+33G>A c.14303+33G>A (n.14303+33G>A) c.14288+33G>A (n.14288+33G>A) c.14285+33G>A (n.14285+33G>A) c.14270+33G>A (n.14270+33G>A) c.14300+33G>A (n.14300+33G>A) c.14216+33G>A (n.14216+33G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38578081G= | CA2335091355 | RYR1 | c.1239+33G= c.2636+33G= c.2608+33G= c.14303+33G= (n.14303+33G=) c.14288+33G= (n.14288+33G=) c.14285+33G= (n.14285+33G=) c.14270+33G= (n.14270+33G=) c.14300+33G= (n.14300+33G=) c.14216+33G= (n.14216+33G=) | |
19 | g.38578083A= | CA2335091356 | RYR1 | c.1239+35A= c.2636+35A= c.2608+35A= c.14303+35A= (n.14303+35A=) c.14288+35A= (n.14288+35A=) c.14285+35A= (n.14285+35A=) c.14270+35A= (n.14270+35A=) c.14300+35A= (n.14300+35A=) c.14216+35A= (n.14216+35A=) | |
19 | g.38578083A>G | CA632876607 | RYR1 | c.1239+35A>G c.2636+35A>G c.2608+35A>G c.14303+35A>G (n.14303+35A>G) c.14288+35A>G (n.14288+35A>G) c.14285+35A>G (n.14285+35A>G) c.14270+35A>G (n.14270+35A>G) c.14300+35A>G (n.14300+35A>G) c.14216+35A>G (n.14216+35A>G) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38578085G>A | CA882064293 | RYR1 | c.1239+37G>A c.2636+37G>A c.2608+37G>A c.14303+37G>A (n.14303+37G>A) c.14288+37G>A (n.14288+37G>A) c.14285+37G>A (n.14285+37G>A) c.14270+37G>A (n.14270+37G>A) c.14300+37G>A (n.14300+37G>A) c.14216+37G>A (n.14216+37G>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38578085G= | CA2335091357 | RYR1 | c.1239+37G= c.2636+37G= c.2608+37G= c.14303+37G= (n.14303+37G=) c.14288+37G= (n.14288+37G=) c.14285+37G= (n.14285+37G=) c.14270+37G= (n.14270+37G=) c.14300+37G= (n.14300+37G=) c.14216+37G= (n.14216+37G=) | |
19 | g.38578085G>T | CA308120222 | RYR1 | c.1239+37G>T c.2636+37G>T c.2608+37G>T c.14303+37G>T (n.14303+37G>T) c.14288+37G>T (n.14288+37G>T) c.14285+37G>T (n.14285+37G>T) c.14270+37G>T (n.14270+37G>T) c.14300+37G>T (n.14300+37G>T) c.14216+37G>T (n.14216+37G>T) | dbSNP gnomAD v4 |
19 | g.38578086C>G | CA2584910705 | RYR1 | c.1239+38C>G c.2636+38C>G c.2608+38C>G c.14303+38C>G (n.14303+38C>G) c.14288+38C>G (n.14288+38C>G) c.14285+38C>G (n.14285+38C>G) c.14270+38C>G (n.14270+38C>G) c.14300+38C>G (n.14300+38C>G) c.14216+38C>G (n.14216+38C>G) | gnomAD v4 |
19 | g.38578087A= | CA2335091358 | RYR1 | c.1239+39A= c.2636+39A= c.2608+39A= c.14303+39A= (n.14303+39A=) c.14288+39A= (n.14288+39A=) c.14285+39A= (n.14285+39A=) c.14270+39A= (n.14270+39A=) c.14300+39A= (n.14300+39A=) c.14216+39A= (n.14216+39A=) | |
19 | g.38578087A>G | CA061072 | RYR1 | c.1239+39A>G c.2636+39A>G c.2608+39A>G c.14303+39A>G (n.14303+39A>G) c.14288+39A>G (n.14288+39A>G) c.14285+39A>G (n.14285+39A>G) c.14270+39A>G (n.14270+39A>G) c.14300+39A>G (n.14300+39A>G) c.14216+39A>G (n.14216+39A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38578088G>A | CA632876611 | RYR1 | c.1239+40G>A c.2636+40G>A c.2608+40G>A c.14303+40G>A (n.14303+40G>A) c.14288+40G>A (n.14288+40G>A) c.14285+40G>A (n.14285+40G>A) c.14270+40G>A (n.14270+40G>A) c.14300+40G>A (n.14300+40G>A) c.14216+40G>A (n.14216+40G>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38578088G= | CA2335091359 | RYR1 | c.1239+40G= c.2636+40G= c.2608+40G= c.14303+40G= (n.14303+40G=) c.14288+40G= (n.14288+40G=) c.14285+40G= (n.14285+40G=) c.14270+40G= (n.14270+40G=) c.14300+40G= (n.14300+40G=) c.14216+40G= (n.14216+40G=) | |
19 | g.38578088G>T | CA2562888693 | RYR1 | c.1239+40G>T c.2636+40G>T c.2608+40G>T c.14303+40G>T (n.14303+40G>T) c.14288+40G>T (n.14288+40G>T) c.14285+40G>T (n.14285+40G>T) c.14270+40G>T (n.14270+40G>T) c.14300+40G>T (n.14300+40G>T) c.14216+40G>T (n.14216+40G>T) | |
19 | g.38578089G>A | CA2584910706 | RYR1 | c.1239+41G>A c.2636+41G>A c.2608+41G>A c.14303+41G>A (n.14303+41G>A) c.14288+41G>A (n.14288+41G>A) c.14285+41G>A (n.14285+41G>A) c.14270+41G>A (n.14270+41G>A) c.14300+41G>A (n.14300+41G>A) c.14216+41G>A (n.14216+41G>A) | gnomAD v4 |
19 | g.38578091G>A | CA061073 | RYR1 | c.1239+43G>A c.2636+43G>A c.2608+43G>A c.14303+43G>A (n.14303+43G>A) c.14288+43G>A (n.14288+43G>A) c.14285+43G>A (n.14285+43G>A) c.14270+43G>A (n.14270+43G>A) c.14300+43G>A (n.14300+43G>A) c.14216+43G>A (n.14216+43G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38578091G= | CA2335091360 | RYR1 | c.1239+43G= c.2636+43G= c.2608+43G= c.14303+43G= (n.14303+43G=) c.14288+43G= (n.14288+43G=) c.14285+43G= (n.14285+43G=) c.14270+43G= (n.14270+43G=) c.14300+43G= (n.14300+43G=) c.14216+43G= (n.14216+43G=) | |
19 | g.38578091G>T | CA061076 | RYR1 | c.1239+43G>T c.2636+43G>T c.2608+43G>T c.14303+43G>T (n.14303+43G>T) c.14288+43G>T (n.14288+43G>T) c.14285+43G>T (n.14285+43G>T) c.14270+43G>T (n.14270+43G>T) c.14300+43G>T (n.14300+43G>T) c.14216+43G>T (n.14216+43G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38578092del | CA2584910707 | RYR1 | c.1239+44del c.2636+44del c.2608+44del c.14303+44del (n.14303+44del) c.14288+44del (n.14288+44del) c.14285+44del (n.14285+44del) c.14270+44del (n.14270+44del) c.14300+44del (n.14300+44del) c.14216+44del (n.14216+44del) | gnomAD v4 |
19 | g.38578092A= | CA2335091361 | RYR1 | c.1239+44A= c.2636+44A= c.2608+44A= c.14303+44A= (n.14303+44A=) c.14288+44A= (n.14288+44A=) c.14285+44A= (n.14285+44A=) c.14270+44A= (n.14270+44A=) c.14300+44A= (n.14300+44A=) c.14216+44A= (n.14216+44A=) | |
19 | g.38578092A>G | CA632876619 | RYR1 | c.1239+44A>G c.2636+44A>G c.2608+44A>G c.14303+44A>G (n.14303+44A>G) c.14288+44A>G (n.14288+44A>G) c.14285+44A>G (n.14285+44A>G) c.14270+44A>G (n.14270+44A>G) c.14300+44A>G (n.14300+44A>G) c.14216+44A>G (n.14216+44A>G) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38578092A>T | CA061078 | RYR1 | c.1239+44A>T c.2636+44A>T c.2608+44A>T c.14303+44A>T (n.14303+44A>T) c.14288+44A>T (n.14288+44A>T) c.14285+44A>T (n.14285+44A>T) c.14270+44A>T (n.14270+44A>T) c.14300+44A>T (n.14300+44A>T) c.14216+44A>T (n.14216+44A>T) | dbSNP ExAC gnomAD v2 |
19 | g.38578093G>A | CA632876622 | RYR1 | c.1239+45G>A c.2636+45G>A c.2608+45G>A c.14303+45G>A (n.14303+45G>A) c.14288+45G>A (n.14288+45G>A) c.14285+45G>A (n.14285+45G>A) c.14270+45G>A (n.14270+45G>A) c.14300+45G>A (n.14300+45G>A) c.14216+45G>A (n.14216+45G>A) | dbSNP gnomAD v2 |
19 | g.38578093G= | CA2335091362 | RYR1 | c.1239+45G= c.2636+45G= c.2608+45G= c.14303+45G= (n.14303+45G=) c.14288+45G= (n.14288+45G=) c.14285+45G= (n.14285+45G=) c.14270+45G= (n.14270+45G=) c.14300+45G= (n.14300+45G=) c.14216+45G= (n.14216+45G=) | |
19 | g.38578094G>A | CA2335091363 | RYR1 | c.1239+46G>A c.2636+46G>A c.2608+46G>A c.14303+46G>A (n.14303+46G>A) c.14288+46G>A (n.14288+46G>A) c.14285+46G>A (n.14285+46G>A) c.14270+46G>A (n.14270+46G>A) c.14300+46G>A (n.14300+46G>A) c.14216+46G>A (n.14216+46G>A) | dbSNP gnomAD v4 |
19 | g.38578094G= | CA2335091364 | RYR1 | c.1239+46G= c.2636+46G= c.2608+46G= c.14303+46G= (n.14303+46G=) c.14288+46G= (n.14288+46G=) c.14285+46G= (n.14285+46G=) c.14270+46G= (n.14270+46G=) c.14300+46G= (n.14300+46G=) c.14216+46G= (n.14216+46G=) | |
19 | g.38578094G>T | CA632876635 | RYR1 | c.1239+46G>T c.2636+46G>T c.2608+46G>T c.14303+46G>T (n.14303+46G>T) c.14288+46G>T (n.14288+46G>T) c.14285+46G>T (n.14285+46G>T) c.14270+46G>T (n.14270+46G>T) c.14300+46G>T (n.14300+46G>T) c.14216+46G>T (n.14216+46G>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38578096G>A | CA2335091366 | RYR1 | c.1240-48G>A c.2637-48G>A c.2609-48G>A c.14304-48G>A (n.14304-48G>A) c.14289-48G>A (n.14289-48G>A) c.14286-48G>A (n.14286-48G>A) c.14271-48G>A (n.14271-48G>A) c.14301-48G>A (n.14301-48G>A) c.14217-48G>A (n.14217-48G>A) | dbSNP gnomAD v4 |
19 | g.38578096G= | CA2335091365 | RYR1 | c.1240-48G= c.2637-48G= c.2609-48G= c.14304-48G= (n.14304-48G=) c.14289-48G= (n.14289-48G=) c.14286-48G= (n.14286-48G=) c.14271-48G= (n.14271-48G=) c.14301-48G= (n.14301-48G=) c.14217-48G= (n.14217-48G=) | |
19 | g.38578096G>T | CA2584910708 | RYR1 | c.1240-48G>T c.2637-48G>T c.2609-48G>T c.14304-48G>T (n.14304-48G>T) c.14289-48G>T (n.14289-48G>T) c.14286-48G>T (n.14286-48G>T) c.14271-48G>T (n.14271-48G>T) c.14301-48G>T (n.14301-48G>T) c.14217-48G>T (n.14217-48G>T) | gnomAD v4 |