| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38573204A>C | CA405681957 | RYR1 | c.962A>C c.2359A>C c.2331A>C c.14026A>C (p.Lys4676Gln) c.14011A>C (p.Lys4671Gln) c.14008A>C (p.Lys4670Gln) c.13993A>C (p.Lys4665Gln) c.14023A>C (p.Lys4675Gln) c.13939A>C (p.Lys4647Gln) | |
| 19 | g.38573204A>G | CA405681960 | RYR1 | c.962A>G c.2359A>G c.2331A>G c.14026A>G (p.Lys4676Glu) c.14011A>G (p.Lys4671Glu) c.14008A>G (p.Lys4670Glu) c.13993A>G (p.Lys4665Glu) c.14023A>G (p.Lys4675Glu) c.13939A>G (p.Lys4647Glu) | |
| 19 | g.38573204A>T | CA405681962 | RYR1 | c.962A>T c.2359A>T c.2331A>T c.14026A>T (p.Lys4676Ter) c.14011A>T (p.Lys4671Ter) c.14008A>T (p.Lys4670Ter) c.13993A>T (p.Lys4665Ter) c.14023A>T (p.Lys4675Ter) c.13939A>T (p.Lys4647Ter) | |
| 19 | g.38573205A= | CA2335088977 | RYR1 | c.963A= c.2360A= c.2332A= c.14027A= (p.Lys4676=) c.14012A= (p.Lys4671=) c.14009A= (p.Lys4670=) c.13994A= (p.Lys4665=) c.14024A= (p.Lys4675=) c.13940A= (p.Lys4647=) | |
| 19 | g.38573205A>C | CA405681969 | RYR1 | c.963A>C c.2360A>C c.2332A>C c.14027A>C (p.Lys4676Thr) c.14012A>C (p.Lys4671Thr) c.14009A>C (p.Lys4670Thr) c.13994A>C (p.Lys4665Thr) c.14024A>C (p.Lys4675Thr) c.13940A>C (p.Lys4647Thr) | |
| 19 | g.38573205A>G | CA405681972 | RYR1 | c.963A>G c.2360A>G c.2332A>G c.14027A>G (p.Lys4676Arg) c.14012A>G (p.Lys4671Arg) c.14009A>G (p.Lys4670Arg) c.13994A>G (p.Lys4665Arg) c.14024A>G (p.Lys4675Arg) c.13940A>G (p.Lys4647Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38573205A>T | CA405681975 | RYR1 | c.963A>T c.2360A>T c.2332A>T c.14027A>T (p.Lys4676Met) c.14012A>T (p.Lys4671Met) c.14009A>T (p.Lys4670Met) c.13994A>T (p.Lys4665Met) c.14024A>T (p.Lys4675Met) c.13940A>T (p.Lys4647Met) | |
| 19 | g.38573206G>A | CA507245137 | RYR1 | c.964G>A c.2361G>A c.2333G>A c.14028G>A (p.Lys4676=) c.14013G>A (p.Lys4671=) c.14010G>A (p.Lys4670=) c.13995G>A (p.Lys4665=) c.14025G>A (p.Lys4675=) c.13941G>A (p.Lys4647=) | |
| 19 | g.38573206G>C | CA405681979 | RYR1 | c.964G>C c.2361G>C c.2333G>C c.14028G>C (p.Lys4676Asn) c.14013G>C (p.Lys4671Asn) c.14010G>C (p.Lys4670Asn) c.13995G>C (p.Lys4665Asn) c.14025G>C (p.Lys4675Asn) c.13941G>C (p.Lys4647Asn) | |
| 19 | g.38573206G>T | CA405681982 | RYR1 | c.964G>T c.2361G>T c.2333G>T c.14028G>T (p.Lys4676Asn) c.14013G>T (p.Lys4671Asn) c.14010G>T (p.Lys4670Asn) c.13995G>T (p.Lys4665Asn) c.14025G>T (p.Lys4675Asn) c.13941G>T (p.Lys4647Asn) | |
| 19 | g.38573207G>A | CA405681985 | RYR1 | c.965G>A c.2362G>A c.2334G>A c.14029G>A (p.Glu4677Lys) c.14014G>A (p.Glu4672Lys) c.14011G>A (p.Glu4671Lys) c.13996G>A (p.Glu4666Lys) c.14026G>A (p.Glu4676Lys) c.13942G>A (p.Glu4648Lys) | |
| 19 | g.38573207G>C | CA405681988 | RYR1 | c.965G>C c.2362G>C c.2334G>C c.14029G>C (p.Glu4677Gln) c.14014G>C (p.Glu4672Gln) c.14011G>C (p.Glu4671Gln) c.13996G>C (p.Glu4666Gln) c.14026G>C (p.Glu4676Gln) c.13942G>C (p.Glu4648Gln) | |
| 19 | g.38573207G>T | CA405681992 | RYR1 | c.965G>T c.2362G>T c.2334G>T c.14029G>T (p.Glu4677Ter) c.14014G>T (p.Glu4672Ter) c.14011G>T (p.Glu4671Ter) c.13996G>T (p.Glu4666Ter) c.14026G>T (p.Glu4676Ter) c.13942G>T (p.Glu4648Ter) | |
| 19 | g.38573208A>C | CA405682001 | RYR1 | c.966A>C c.2363A>C c.2335A>C c.14030A>C (p.Glu4677Ala) c.14015A>C (p.Glu4672Ala) c.14012A>C (p.Glu4671Ala) c.13997A>C (p.Glu4666Ala) c.14027A>C (p.Glu4676Ala) c.13943A>C (p.Glu4648Ala) | |
| 19 | g.38573208A>G | CA405682022 | RYR1 | c.966A>G c.2363A>G c.2335A>G c.14030A>G (p.Glu4677Gly) c.14015A>G (p.Glu4672Gly) c.14012A>G (p.Glu4671Gly) c.13997A>G (p.Glu4666Gly) c.14027A>G (p.Glu4676Gly) c.13943A>G (p.Glu4648Gly) | |
| 19 | g.38573208A>T | CA405682019 | RYR1 | c.966A>T c.2363A>T c.2335A>T c.14030A>T (p.Glu4677Val) c.14015A>T (p.Glu4672Val) c.14012A>T (p.Glu4671Val) c.13997A>T (p.Glu4666Val) c.14027A>T (p.Glu4676Val) c.13943A>T (p.Glu4648Val) | |
| 19 | g.38573209G>A | CA507245138 | RYR1 | c.967G>A c.2364G>A c.2336G>A c.14031G>A (p.Glu4677=) c.14016G>A (p.Glu4672=) c.14013G>A (p.Glu4671=) c.13998G>A (p.Glu4666=) c.14028G>A (p.Glu4676=) c.13944G>A (p.Glu4648=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38573209G>C | CA081048 | RYR1 | c.967G>C c.2364G>C c.2336G>C c.14031G>C (p.Glu4677Asp) c.14016G>C (p.Glu4672Asp) c.14013G>C (p.Glu4671Asp) c.13998G>C (p.Glu4666Asp) c.14028G>C (p.Glu4676Asp) c.13944G>C (p.Glu4648Asp) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38573209G= | CA2335088978 | RYR1 | c.967G= c.2364G= c.2336G= c.14031G= (p.Glu4677=) c.14016G= (p.Glu4672=) c.14013G= (p.Glu4671=) c.13998G= (p.Glu4666=) c.14028G= (p.Glu4676=) c.13944G= (p.Glu4648=) | |
| 19 | g.38573209G>T | CA405682026 | RYR1 | c.967G>T c.2364G>T c.2336G>T c.14031G>T (p.Glu4677Asp) c.14016G>T (p.Glu4672Asp) c.14013G>T (p.Glu4671Asp) c.13998G>T (p.Glu4666Asp) c.14028G>T (p.Glu4676Asp) c.13944G>T (p.Glu4648Asp) | gnomAD v4 |
| 19 | g.38573210C>A | CA405682029 | RYR1 | c.968C>A c.2365C>A c.2337C>A c.14032C>A (p.Leu4678Met) c.14017C>A (p.Leu4673Met) c.14014C>A (p.Leu4672Met) c.13999C>A (p.Leu4667Met) c.14029C>A (p.Leu4677Met) c.13945C>A (p.Leu4649Met) | |
| 19 | g.38573210C= | CA2335088979 | RYR1 | c.968C= c.2365C= c.2337C= c.14032C= (p.Leu4678=) c.14017C= (p.Leu4673=) c.14014C= (p.Leu4672=) c.13999C= (p.Leu4667=) c.14029C= (p.Leu4677=) c.13945C= (p.Leu4649=) | |
| 19 | g.38573210C>G | CA405682032 | RYR1 | c.968C>G c.2365C>G c.2337C>G c.14032C>G (p.Leu4678Val) c.14017C>G (p.Leu4673Val) c.14014C>G (p.Leu4672Val) c.13999C>G (p.Leu4667Val) c.14029C>G (p.Leu4677Val) c.13945C>G (p.Leu4649Val) | |
| 19 | g.38573210C>T | CA507245139 | RYR1 | c.968C>T c.2365C>T c.2337C>T c.14032C>T (p.Leu4678=) c.14017C>T (p.Leu4673=) c.14014C>T (p.Leu4672=) c.13999C>T (p.Leu4667=) c.14029C>T (p.Leu4677=) c.13945C>T (p.Leu4649=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38573211T>A | CA405682034 | RYR1 | c.969T>A c.2366T>A c.2338T>A c.14033T>A (p.Leu4678Gln) c.14018T>A (p.Leu4673Gln) c.14015T>A (p.Leu4672Gln) c.14000T>A (p.Leu4667Gln) c.14030T>A (p.Leu4677Gln) c.13946T>A (p.Leu4649Gln) | |
| 19 | g.38573211T>C | CA405682038 | RYR1 | c.969T>C c.2366T>C c.2338T>C c.14033T>C (p.Leu4678Pro) c.14018T>C (p.Leu4673Pro) c.14015T>C (p.Leu4672Pro) c.14000T>C (p.Leu4667Pro) c.14030T>C (p.Leu4677Pro) c.13946T>C (p.Leu4649Pro) | |
| 19 | g.38573211T>G | CA405682046 | RYR1 | c.969T>G c.2366T>G c.2338T>G c.14033T>G (p.Leu4678Arg) c.14018T>G (p.Leu4673Arg) c.14015T>G (p.Leu4672Arg) c.14000T>G (p.Leu4667Arg) c.14030T>G (p.Leu4677Arg) c.13946T>G (p.Leu4649Arg) | |
| 19 | g.38573212G>A | CA507245142 | RYR1 | c.970G>A c.2367G>A c.2339G>A c.14034G>A (p.Leu4678=) c.14019G>A (p.Leu4673=) c.14016G>A (p.Leu4672=) c.14001G>A (p.Leu4667=) c.14031G>A (p.Leu4677=) c.13947G>A (p.Leu4649=) | |
| 19 | g.38573212G>C | CA507245140 | RYR1 | c.970G>C c.2367G>C c.2339G>C c.14034G>C (p.Leu4678=) c.14019G>C (p.Leu4673=) c.14016G>C (p.Leu4672=) c.14001G>C (p.Leu4667=) c.14031G>C (p.Leu4677=) c.13947G>C (p.Leu4649=) | |
| 19 | g.38573212G>T | CA507245141 | RYR1 | c.970G>T c.2367G>T c.2339G>T c.14034G>T (p.Leu4678=) c.14019G>T (p.Leu4673=) c.14016G>T (p.Leu4672=) c.14001G>T (p.Leu4667=) c.14031G>T (p.Leu4677=) c.13947G>T (p.Leu4649=) | |
| 19 | g.38573213G>A | CA405682051 | RYR1 | c.971G>A c.2368G>A c.2340G>A c.14035G>A (p.Ala4679Thr) c.14020G>A (p.Ala4674Thr) c.14017G>A (p.Ala4673Thr) c.14002G>A (p.Ala4668Thr) c.14032G>A (p.Ala4678Thr) c.13948G>A (p.Ala4650Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38573213G>C | CA405682054 | RYR1 | c.971G>C c.2368G>C c.2340G>C c.14035G>C (p.Ala4679Pro) c.14020G>C (p.Ala4674Pro) c.14017G>C (p.Ala4673Pro) c.14002G>C (p.Ala4668Pro) c.14032G>C (p.Ala4678Pro) c.13948G>C (p.Ala4650Pro) | |
| 19 | g.38573213G= | CA2335088980 | RYR1 | c.971G= c.2368G= c.2340G= c.14035G= (p.Ala4679=) c.14020G= (p.Ala4674=) c.14017G= (p.Ala4673=) c.14002G= (p.Ala4668=) c.14032G= (p.Ala4678=) c.13948G= (p.Ala4650=) | |
| 19 | g.38573213G>T | CA405682058 | RYR1 | c.971G>T c.2368G>T c.2340G>T c.14035G>T (p.Ala4679Ser) c.14020G>T (p.Ala4674Ser) c.14017G>T (p.Ala4673Ser) c.14002G>T (p.Ala4668Ser) c.14032G>T (p.Ala4678Ser) c.13948G>T (p.Ala4650Ser) | |
| 19 | g.38573214C>A | CA405682071 | RYR1 | c.972C>A c.2369C>A c.2341C>A c.14036C>A (p.Ala4679Asp) c.14021C>A (p.Ala4674Asp) c.14018C>A (p.Ala4673Asp) c.14003C>A (p.Ala4668Asp) c.14033C>A (p.Ala4678Asp) c.13949C>A (p.Ala4650Asp) | |
| 19 | g.38573214C>G | CA405682078 | RYR1 | c.972C>G c.2369C>G c.2341C>G c.14036C>G (p.Ala4679Gly) c.14021C>G (p.Ala4674Gly) c.14018C>G (p.Ala4673Gly) c.14003C>G (p.Ala4668Gly) c.14033C>G (p.Ala4678Gly) c.13949C>G (p.Ala4650Gly) | |
| 19 | g.38573214C>T | CA405682065 | RYR1 | c.972C>T c.2369C>T c.2341C>T c.14036C>T (p.Ala4679Val) c.14021C>T (p.Ala4674Val) c.14018C>T (p.Ala4673Val) c.14003C>T (p.Ala4668Val) c.14033C>T (p.Ala4678Val) c.13949C>T (p.Ala4650Val) | |
| 19 | g.38573215C>A | CA507245143 | RYR1 | c.973C>A c.2370C>A c.2342C>A c.14037C>A (p.Ala4679=) c.14022C>A (p.Ala4674=) c.14019C>A (p.Ala4673=) c.14004C>A (p.Ala4668=) c.14034C>A (p.Ala4678=) c.13950C>A (p.Ala4650=) | |
| 19 | g.38573215C= | CA2335088981 | RYR1 | c.973C= c.2370C= c.2342C= c.14037C= (p.Ala4679=) c.14022C= (p.Ala4674=) c.14019C= (p.Ala4673=) c.14004C= (p.Ala4668=) c.14034C= (p.Ala4678=) c.13950C= (p.Ala4650=) | |
| 19 | g.38573215C>G | CA507245144 | RYR1 | c.973C>G c.2370C>G c.2342C>G c.14037C>G (p.Ala4679=) c.14022C>G (p.Ala4674=) c.14019C>G (p.Ala4673=) c.14004C>G (p.Ala4668=) c.14034C>G (p.Ala4678=) c.13950C>G (p.Ala4650=) | |
| 19 | g.38573215C>T | CA308114699 | RYR1 | c.973C>T c.2370C>T c.2342C>T c.14037C>T (p.Ala4679=) c.14022C>T (p.Ala4674=) c.14019C>T (p.Ala4673=) c.14004C>T (p.Ala4668=) c.14034C>T (p.Ala4678=) c.13950C>T (p.Ala4650=) | dbSNP gnomAD v4 COSMIC |
| 19 | g.38573216C>A | CA507245145 | RYR1 | c.974C>A c.2371C>A c.2343C>A c.14038C>A (p.Arg4680=) c.14023C>A (p.Arg4675=) c.14020C>A (p.Arg4674=) c.14005C>A (p.Arg4669=) c.14035C>A (p.Arg4679=) c.13951C>A (p.Arg4651=) | ClinVar |
| 19 | g.38573216C= | CA2335088982 | RYR1 | c.974C= c.2371C= c.2343C= c.14038C= (p.Arg4680=) c.14023C= (p.Arg4675=) c.14020C= (p.Arg4674=) c.14005C= (p.Arg4669=) c.14035C= (p.Arg4679=) c.13951C= (p.Arg4651=) | |
| 19 | g.38573216C>G | CA405682081 | RYR1 | c.974C>G c.2371C>G c.2343C>G c.14038C>G (p.Arg4680Gly) c.14023C>G (p.Arg4675Gly) c.14020C>G (p.Arg4674Gly) c.14005C>G (p.Arg4669Gly) c.14035C>G (p.Arg4679Gly) c.13951C>G (p.Arg4651Gly) | |
| 19 | g.38573216C>T | CA405682082 | RYR1 | c.974C>T c.2371C>T c.2343C>T c.14038C>T (p.Arg4680Trp) c.14023C>T (p.Arg4675Trp) c.14020C>T (p.Arg4674Trp) c.14005C>T (p.Arg4669Trp) c.14035C>T (p.Arg4679Trp) c.13951C>T (p.Arg4651Trp) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38573217G>A | CA405682083 | RYR1 | c.975G>A c.2372G>A c.2344G>A c.14039G>A (p.Arg4680Gln) c.14024G>A (p.Arg4675Gln) c.14021G>A (p.Arg4674Gln) c.14006G>A (p.Arg4669Gln) c.14036G>A (p.Arg4679Gln) c.13952G>A (p.Arg4651Gln) | dbSNP gnomAD v4 |
| 19 | g.38573217G>C | CA405682084 | RYR1 | c.975G>C c.2372G>C c.2344G>C c.14039G>C (p.Arg4680Pro) c.14024G>C (p.Arg4675Pro) c.14021G>C (p.Arg4674Pro) c.14006G>C (p.Arg4669Pro) c.14036G>C (p.Arg4679Pro) c.13952G>C (p.Arg4651Pro) | |
| 19 | g.38573217G= | CA2335088983 | RYR1 | c.975G= c.2372G= c.2344G= c.14039G= (p.Arg4680=) c.14024G= (p.Arg4675=) c.14021G= (p.Arg4674=) c.14006G= (p.Arg4669=) c.14036G= (p.Arg4679=) c.13952G= (p.Arg4651=) | |
| 19 | g.38573217G>T | CA405682085 | RYR1 | c.975G>T c.2372G>T c.2344G>T c.14039G>T (p.Arg4680Leu) c.14024G>T (p.Arg4675Leu) c.14021G>T (p.Arg4674Leu) c.14006G>T (p.Arg4669Leu) c.14036G>T (p.Arg4679Leu) c.13952G>T (p.Arg4651Leu) | |
| 19 | g.38573218G>A | CA060779 | RYR1 | c.976G>A c.2373G>A c.2345G>A c.14040G>A (p.Arg4680=) c.14025G>A (p.Arg4675=) c.14022G>A (p.Arg4674=) c.14007G>A (p.Arg4669=) c.14037G>A (p.Arg4679=) c.13953G>A (p.Arg4651=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |