UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 19 | g.38573218G>C | CA507245148 | RYR1 | c.976G>C c.2373G>C c.2345G>C c.14040G>C (p.Arg4680=) c.14025G>C (p.Arg4675=) c.14022G>C (p.Arg4674=) c.14007G>C (p.Arg4669=) c.14037G>C (p.Arg4679=) c.13953G>C (p.Arg4651=) | |
| 19 | g.38573218G= | CA2335088984 | RYR1 | c.976G= c.2373G= c.2345G= c.14040G= (p.Arg4680=) c.14025G= (p.Arg4675=) c.14022G= (p.Arg4674=) c.14007G= (p.Arg4669=) c.14037G= (p.Arg4679=) c.13953G= (p.Arg4651=) | |
| 19 | g.38573218G>T | CA507245149 | RYR1 | c.976G>T c.2373G>T c.2345G>T c.14040G>T (p.Arg4680=) c.14025G>T (p.Arg4675=) c.14022G>T (p.Arg4674=) c.14007G>T (p.Arg4669=) c.14037G>T (p.Arg4679=) c.13953G>T (p.Arg4651=) | gnomAD v4 |
| 19 | g.38573219A= | CA2335088985 | RYR1 | c.977A= c.2374A= c.2346A= c.14041A= (p.Lys4681=) c.14026A= (p.Lys4676=) c.14023A= (p.Lys4675=) c.14008A= (p.Lys4670=) c.14038A= (p.Lys4680=) c.13954A= (p.Lys4652=) | |
| 19 | g.38573219A>C | CA405682086 | RYR1 | c.977A>C c.2374A>C c.2346A>C c.14041A>C (p.Lys4681Gln) c.14026A>C (p.Lys4676Gln) c.14023A>C (p.Lys4675Gln) c.14008A>C (p.Lys4670Gln) c.14038A>C (p.Lys4680Gln) c.13954A>C (p.Lys4652Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38573219A>G | CA405682087 | RYR1 | c.977A>G c.2374A>G c.2346A>G c.14041A>G (p.Lys4681Glu) c.14026A>G (p.Lys4676Glu) c.14023A>G (p.Lys4675Glu) c.14008A>G (p.Lys4670Glu) c.14038A>G (p.Lys4680Glu) c.13954A>G (p.Lys4652Glu) | |
| 19 | g.38573219A>T | CA405682088 | RYR1 | c.977A>T c.2374A>T c.2346A>T c.14041A>T (p.Lys4681Ter) c.14026A>T (p.Lys4676Ter) c.14023A>T (p.Lys4675Ter) c.14008A>T (p.Lys4670Ter) c.14038A>T (p.Lys4680Ter) c.13954A>T (p.Lys4652Ter) | |
| 19 | g.38573220A>C | CA405682089 | RYR1 | c.978A>C c.2375A>C c.2347A>C c.14042A>C (p.Lys4681Thr) c.14027A>C (p.Lys4676Thr) c.14024A>C (p.Lys4675Thr) c.14009A>C (p.Lys4670Thr) c.14039A>C (p.Lys4680Thr) c.13955A>C (p.Lys4652Thr) | |
| 19 | g.38573220A>G | CA405682090 | RYR1 | c.978A>G c.2375A>G c.2347A>G c.14042A>G (p.Lys4681Arg) c.14027A>G (p.Lys4676Arg) c.14024A>G (p.Lys4675Arg) c.14009A>G (p.Lys4670Arg) c.14039A>G (p.Lys4680Arg) c.13955A>G (p.Lys4652Arg) | |
| 19 | g.38573220A>T | CA405682091 | RYR1 | c.978A>T c.2375A>T c.2347A>T c.14042A>T (p.Lys4681Met) c.14027A>T (p.Lys4676Met) c.14024A>T (p.Lys4675Met) c.14009A>T (p.Lys4670Met) c.14039A>T (p.Lys4680Met) c.13955A>T (p.Lys4652Met) | |
| 19 | g.38573221G>A | CA081075 | RYR1 | c.979G>A c.2376G>A c.2348G>A c.14043G>A (p.Lys4681=) c.14028G>A (p.Lys4676=) c.14025G>A (p.Lys4675=) c.14010G>A (p.Lys4670=) c.14040G>A (p.Lys4680=) c.13956G>A (p.Lys4652=) | |
| 19 | g.38573221G>C | CA405682092 | RYR1 | c.979G>C c.2376G>C c.2348G>C c.14043G>C (p.Lys4681Asn) c.14028G>C (p.Lys4676Asn) c.14025G>C (p.Lys4675Asn) c.14010G>C (p.Lys4670Asn) c.14040G>C (p.Lys4680Asn) c.13956G>C (p.Lys4652Asn) | |
| 19 | g.38573221G= | CA2335088986 | RYR1 | c.979G= c.2376G= c.2348G= c.14043G= (p.Lys4681=) c.14028G= (p.Lys4676=) c.14025G= (p.Lys4675=) c.14010G= (p.Lys4670=) c.14040G= (p.Lys4680=) c.13956G= (p.Lys4652=) | |
| 19 | g.38573221G>T | CA405682093 | RYR1 | c.979G>T c.2376G>T c.2348G>T c.14043G>T (p.Lys4681Asn) c.14028G>T (p.Lys4676Asn) c.14025G>T (p.Lys4675Asn) c.14010G>T (p.Lys4670Asn) c.14040G>T (p.Lys4680Asn) c.13956G>T (p.Lys4652Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38573222C>A | CA405682095 | RYR1 | c.980C>A c.2377C>A c.2349C>A c.14044C>A (p.Leu4682Met) c.14029C>A (p.Leu4677Met) c.14026C>A (p.Leu4676Met) c.14011C>A (p.Leu4671Met) c.14041C>A (p.Leu4681Met) c.13957C>A (p.Leu4653Met) | |
| 19 | g.38573222C>G | CA405682096 | RYR1 | c.980C>G c.2377C>G c.2349C>G c.14044C>G (p.Leu4682Val) c.14029C>G (p.Leu4677Val) c.14026C>G (p.Leu4676Val) c.14011C>G (p.Leu4671Val) c.14041C>G (p.Leu4681Val) c.13957C>G (p.Leu4653Val) | |
| 19 | g.38573222C>T | CA507245150 | RYR1 | c.980C>T c.2377C>T c.2349C>T c.14044C>T (p.Leu4682=) c.14029C>T (p.Leu4677=) c.14026C>T (p.Leu4676=) c.14011C>T (p.Leu4671=) c.14041C>T (p.Leu4681=) c.13957C>T (p.Leu4653=) | |
| 19 | g.38573223T>A | CA405682097 | RYR1 | c.981T>A c.2378T>A c.2350T>A c.14045T>A (p.Leu4682Gln) c.14030T>A (p.Leu4677Gln) c.14027T>A (p.Leu4676Gln) c.14012T>A (p.Leu4671Gln) c.14042T>A (p.Leu4681Gln) c.13958T>A (p.Leu4653Gln) | |
| 19 | g.38573223T>C | CA405682098 | RYR1 | c.981T>C c.2378T>C c.2350T>C c.14045T>C (p.Leu4682Pro) c.14030T>C (p.Leu4677Pro) c.14027T>C (p.Leu4676Pro) c.14012T>C (p.Leu4671Pro) c.14042T>C (p.Leu4681Pro) c.13958T>C (p.Leu4653Pro) | |
| 19 | g.38573223T>G | CA405682100 | RYR1 | c.981T>G c.2378T>G c.2350T>G c.14045T>G (p.Leu4682Arg) c.14030T>G (p.Leu4677Arg) c.14027T>G (p.Leu4676Arg) c.14012T>G (p.Leu4671Arg) c.14042T>G (p.Leu4681Arg) c.13958T>G (p.Leu4653Arg) | |
| 19 | g.38573224G>A | CA507245151 | RYR1 | c.982G>A c.2379G>A c.2351G>A c.14046G>A (p.Leu4682=) c.14031G>A (p.Leu4677=) c.14028G>A (p.Leu4676=) c.14013G>A (p.Leu4671=) c.14043G>A (p.Leu4681=) c.13959G>A (p.Leu4653=) | dbSNP COSMIC |
| 19 | g.38573224G>C | CA507245152 | RYR1 | c.982G>C c.2379G>C c.2351G>C c.14046G>C (p.Leu4682=) c.14031G>C (p.Leu4677=) c.14028G>C (p.Leu4676=) c.14013G>C (p.Leu4671=) c.14043G>C (p.Leu4681=) c.13959G>C (p.Leu4653=) | |
| 19 | g.38573224G= | CA2335088987 | RYR1 | c.982G= c.2379G= c.2351G= c.14046G= (p.Leu4682=) c.14031G= (p.Leu4677=) c.14028G= (p.Leu4676=) c.14013G= (p.Leu4671=) c.14043G= (p.Leu4681=) c.13959G= (p.Leu4653=) | |
| 19 | g.38573224G>T | CA507245153 | RYR1 | c.982G>T c.2379G>T c.2351G>T c.14046G>T (p.Leu4682=) c.14031G>T (p.Leu4677=) c.14028G>T (p.Leu4676=) c.14013G>T (p.Leu4671=) c.14043G>T (p.Leu4681=) c.13959G>T (p.Leu4653=) | |
| 19 | g.38573225del | CA081052 | RYR1 | c.983del c.2380del c.2352del c.14047del (p.Glu4683SerfsTer16) c.14032del (p.Glu4678SerfsTer16) c.14029del (p.Glu4677SerfsTer16) c.14014del (p.Glu4672SerfsTer16) c.14044del (p.Glu4682SerfsTer16) c.13960del (p.Glu4654SerfsTer16) | |
| 19 | g.38573225G>A | CA405682102 | RYR1 | c.983G>A c.2380G>A c.2352G>A c.14047G>A (p.Glu4683Lys) c.14032G>A (p.Glu4678Lys) c.14029G>A (p.Glu4677Lys) c.14014G>A (p.Glu4672Lys) c.14044G>A (p.Glu4682Lys) c.13960G>A (p.Glu4654Lys) | |
| 19 | g.38573225G>C | CA405682113 | RYR1 | c.983G>C c.2380G>C c.2352G>C c.14047G>C (p.Glu4683Gln) c.14032G>C (p.Glu4678Gln) c.14029G>C (p.Glu4677Gln) c.14014G>C (p.Glu4672Gln) c.14044G>C (p.Glu4682Gln) c.13960G>C (p.Glu4654Gln) | COSMIC |
| 19 | g.38573225G>T | CA405682117 | RYR1 | c.983G>T c.2380G>T c.2352G>T c.14047G>T (p.Glu4683Ter) c.14032G>T (p.Glu4678Ter) c.14029G>T (p.Glu4677Ter) c.14014G>T (p.Glu4672Ter) c.14044G>T (p.Glu4682Ter) c.13960G>T (p.Glu4654Ter) | |
| 19 | g.38573226A= | CA2335088988 | RYR1 | c.984A= c.2381A= c.2353A= c.14048A= (p.Glu4683=) c.14033A= (p.Glu4678=) c.14030A= (p.Glu4677=) c.14015A= (p.Glu4672=) c.14045A= (p.Glu4682=) c.13961A= (p.Glu4654=) | |
| 19 | g.38573226A>C | CA405682120 | RYR1 | c.984A>C c.2381A>C c.2353A>C c.14048A>C (p.Glu4683Ala) c.14033A>C (p.Glu4678Ala) c.14030A>C (p.Glu4677Ala) c.14015A>C (p.Glu4672Ala) c.14045A>C (p.Glu4682Ala) c.13961A>C (p.Glu4654Ala) | dbSNP |
| 19 | g.38573226A>G | CA405682122 | RYR1 | c.984A>G c.2381A>G c.2353A>G c.14048A>G (p.Glu4683Gly) c.14033A>G (p.Glu4678Gly) c.14030A>G (p.Glu4677Gly) c.14015A>G (p.Glu4672Gly) c.14045A>G (p.Glu4682Gly) c.13961A>G (p.Glu4654Gly) | |
| 19 | g.38573226A>T | CA405682125 | RYR1 | c.984A>T c.2381A>T c.2353A>T c.14048A>T (p.Glu4683Val) c.14033A>T (p.Glu4678Val) c.14030A>T (p.Glu4677Val) c.14015A>T (p.Glu4672Val) c.14045A>T (p.Glu4682Val) c.13961A>T (p.Glu4654Val) | |
| 19 | g.38573227G>A | CA060784 | RYR1 | c.985G>A c.2382G>A c.2354G>A c.14049G>A (p.Glu4683=) c.14034G>A (p.Glu4678=) c.14031G>A (p.Glu4677=) c.14016G>A (p.Glu4672=) c.14046G>A (p.Glu4682=) c.13962G>A (p.Glu4654=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38573227G>C | CA405682141 | RYR1 | c.985G>C c.2382G>C c.2354G>C c.14049G>C (p.Glu4683Asp) c.14034G>C (p.Glu4678Asp) c.14031G>C (p.Glu4677Asp) c.14016G>C (p.Glu4672Asp) c.14046G>C (p.Glu4682Asp) c.13962G>C (p.Glu4654Asp) | |
| 19 | g.38573227G= | CA2335088989 | RYR1 | c.985G= c.2382G= c.2354G= c.14049G= (p.Glu4683=) c.14034G= (p.Glu4678=) c.14031G= (p.Glu4677=) c.14016G= (p.Glu4672=) c.14046G= (p.Glu4682=) c.13962G= (p.Glu4654=) | |
| 19 | g.38573227G>T | CA405682142 | RYR1 | c.985G>T c.2382G>T c.2354G>T c.14049G>T (p.Glu4683Asp) c.14034G>T (p.Glu4678Asp) c.14031G>T (p.Glu4677Asp) c.14016G>T (p.Glu4672Asp) c.14046G>T (p.Glu4682Asp) c.13962G>T (p.Glu4654Asp) | |
| 19 | g.38573228T>A | CA405682157 | RYR1 | c.986T>A c.2383T>A c.2355T>A c.14050T>A (p.Phe4684Ile) c.14035T>A (p.Phe4679Ile) c.14032T>A (p.Phe4678Ile) c.14017T>A (p.Phe4673Ile) c.14047T>A (p.Phe4683Ile) c.13963T>A (p.Phe4655Ile) | |
| 19 | g.38573228T>C | CA405682154 | RYR1 | c.986T>C c.2383T>C c.2355T>C c.14050T>C (p.Phe4684Leu) c.14035T>C (p.Phe4679Leu) c.14032T>C (p.Phe4678Leu) c.14017T>C (p.Phe4673Leu) c.14047T>C (p.Phe4683Leu) c.13963T>C (p.Phe4655Leu) | |
| 19 | g.38573228T>G | CA405682149 | RYR1 | c.986T>G c.2383T>G c.2355T>G c.14050T>G (p.Phe4684Val) c.14035T>G (p.Phe4679Val) c.14032T>G (p.Phe4678Val) c.14017T>G (p.Phe4673Val) c.14047T>G (p.Phe4683Val) c.13963T>G (p.Phe4655Val) | |
| 19 | g.38573229T>A | CA405682162 | RYR1 | c.987T>A c.2384T>A c.2356T>A c.14051T>A (p.Phe4684Tyr) c.14036T>A (p.Phe4679Tyr) c.14033T>A (p.Phe4678Tyr) c.14018T>A (p.Phe4673Tyr) c.14048T>A (p.Phe4683Tyr) c.13964T>A (p.Phe4655Tyr) | |
| 19 | g.38573229T>C | CA024101 | RYR1 | c.987T>C c.2384T>C c.2356T>C c.14051T>C (p.Phe4684Ser) c.14036T>C (p.Phe4679Ser) c.14033T>C (p.Phe4678Ser) c.14018T>C (p.Phe4673Ser) c.14048T>C (p.Phe4683Ser) c.13964T>C (p.Phe4655Ser) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38573229T>G | CA405682164 | RYR1 | c.987T>G c.2384T>G c.2356T>G c.14051T>G (p.Phe4684Cys) c.14036T>G (p.Phe4679Cys) c.14033T>G (p.Phe4678Cys) c.14018T>G (p.Phe4673Cys) c.14048T>G (p.Phe4683Cys) c.13964T>G (p.Phe4655Cys) | |
| 19 | g.38573229T= | CA2335088990 | RYR1 | c.987T= c.2384T= c.2356T= c.14051T= (p.Phe4684=) c.14036T= (p.Phe4679=) c.14033T= (p.Phe4678=) c.14018T= (p.Phe4673=) c.14048T= (p.Phe4683=) c.13964T= (p.Phe4655=) | |
| 19 | g.38573230T>A | CA405682166 | RYR1 | c.988T>A c.2385T>A c.2357T>A c.14052T>A (p.Phe4684Leu) c.14037T>A (p.Phe4679Leu) c.14034T>A (p.Phe4678Leu) c.14019T>A (p.Phe4673Leu) c.14049T>A (p.Phe4683Leu) c.13965T>A (p.Phe4655Leu) | |
| 19 | g.38573230T>C | CA507245154 | RYR1 | c.988T>C c.2385T>C c.2357T>C c.14052T>C (p.Phe4684=) c.14037T>C (p.Phe4679=) c.14034T>C (p.Phe4678=) c.14019T>C (p.Phe4673=) c.14049T>C (p.Phe4683=) c.13965T>C (p.Phe4655=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38573230T>G | CA405682170 | RYR1 | c.988T>G c.2385T>G c.2357T>G c.14052T>G (p.Phe4684Leu) c.14037T>G (p.Phe4679Leu) c.14034T>G (p.Phe4678Leu) c.14019T>G (p.Phe4673Leu) c.14049T>G (p.Phe4683Leu) c.13965T>G (p.Phe4655Leu) | |
| 19 | g.38573231G>A | CA405682174 | RYR1 | c.989G>A c.2386G>A c.2358G>A c.14053G>A (p.Asp4685Asn) c.14038G>A (p.Asp4680Asn) c.14035G>A (p.Asp4679Asn) c.14020G>A (p.Asp4674Asn) c.14050G>A (p.Asp4684Asn) c.13966G>A (p.Asp4656Asn) | |
| 19 | g.38573231G>C | CA405682176 | RYR1 | c.989G>C c.2386G>C c.2358G>C c.14053G>C (p.Asp4685His) c.14038G>C (p.Asp4680His) c.14035G>C (p.Asp4679His) c.14020G>C (p.Asp4674His) c.14050G>C (p.Asp4684His) c.13966G>C (p.Asp4656His) | COSMIC |
| 19 | g.38573231G>T | CA405682182 | RYR1 | c.989G>T c.2386G>T c.2358G>T c.14053G>T (p.Asp4685Tyr) c.14038G>T (p.Asp4680Tyr) c.14035G>T (p.Asp4679Tyr) c.14020G>T (p.Asp4674Tyr) c.14050G>T (p.Asp4684Tyr) c.13966G>T (p.Asp4656Tyr) | |
| 19 | g.38573232A>C | CA405682185 | RYR1 | c.990A>C c.2387A>C c.2359A>C c.14054A>C (p.Asp4685Ala) c.14039A>C (p.Asp4680Ala) c.14036A>C (p.Asp4679Ala) c.14021A>C (p.Asp4674Ala) c.14051A>C (p.Asp4684Ala) c.13967A>C (p.Asp4656Ala) | |
| 19 | g.38573232A>G | CA405682187 | RYR1 | c.990A>G c.2387A>G c.2359A>G c.14054A>G (p.Asp4685Gly) c.14039A>G (p.Asp4680Gly) c.14036A>G (p.Asp4679Gly) c.14021A>G (p.Asp4674Gly) c.14051A>G (p.Asp4684Gly) c.13967A>G (p.Asp4656Gly) | |
| 19 | g.38573232A>T | CA405682191 | RYR1 | c.990A>T c.2387A>T c.2359A>T c.14054A>T (p.Asp4685Val) c.14039A>T (p.Asp4680Val) c.14036A>T (p.Asp4679Val) c.14021A>T (p.Asp4674Val) c.14051A>T (p.Asp4684Val) c.13967A>T (p.Asp4656Val) | |
| 19 | g.38573233T>A | CA405682196 | RYR1 | c.991T>A c.2388T>A c.2360T>A c.14055T>A (p.Asp4685Glu) c.14040T>A (p.Asp4680Glu) c.14037T>A (p.Asp4679Glu) c.14022T>A (p.Asp4674Glu) c.14052T>A (p.Asp4684Glu) c.13968T>A (p.Asp4656Glu) | |
| 19 | g.38573233T>C | CA507245155 | RYR1 | c.991T>C c.2388T>C c.2360T>C c.14055T>C (p.Asp4685=) c.14040T>C (p.Asp4680=) c.14037T>C (p.Asp4679=) c.14022T>C (p.Asp4674=) c.14052T>C (p.Asp4684=) c.13968T>C (p.Asp4656=) | dbSNP |
| 19 | g.38573233T>G | CA405682197 | RYR1 | c.991T>G c.2388T>G c.2360T>G c.14055T>G (p.Asp4685Glu) c.14040T>G (p.Asp4680Glu) c.14037T>G (p.Asp4679Glu) c.14022T>G (p.Asp4674Glu) c.14052T>G (p.Asp4684Glu) c.13968T>G (p.Asp4656Glu) | |
| 19 | g.38573234G>A | CA405682205 | RYR1 | c.992G>A c.2389G>A c.2361G>A c.14056G>A (p.Gly4686Ser) c.14041G>A (p.Gly4681Ser) c.14038G>A (p.Gly4680Ser) c.14023G>A (p.Gly4675Ser) c.14053G>A (p.Gly4685Ser) c.13969G>A (p.Gly4657Ser) | |
| 19 | g.38573234G>C | CA405682211 | RYR1 | c.992G>C c.2389G>C c.2361G>C c.14056G>C (p.Gly4686Arg) c.14041G>C (p.Gly4681Arg) c.14038G>C (p.Gly4680Arg) c.14023G>C (p.Gly4675Arg) c.14053G>C (p.Gly4685Arg) c.13969G>C (p.Gly4657Arg) | |
| 19 | g.38573234G>T | CA405682202 | RYR1 | c.992G>T c.2389G>T c.2361G>T c.14056G>T (p.Gly4686Cys) c.14041G>T (p.Gly4681Cys) c.14038G>T (p.Gly4680Cys) c.14023G>T (p.Gly4675Cys) c.14053G>T (p.Gly4685Cys) c.13969G>T (p.Gly4657Cys) | |
| 19 | g.38573235G>A | CA405682214 | RYR1 | c.993G>A c.2390G>A c.2362G>A c.14057G>A (p.Gly4686Asp) c.14042G>A (p.Gly4681Asp) c.14039G>A (p.Gly4680Asp) c.14024G>A (p.Gly4675Asp) c.14054G>A (p.Gly4685Asp) c.13970G>A (p.Gly4657Asp) | ClinVar |
| 19 | g.38573235G>C | CA405682216 | RYR1 | c.993G>C c.2390G>C c.2362G>C c.14057G>C (p.Gly4686Ala) c.14042G>C (p.Gly4681Ala) c.14039G>C (p.Gly4680Ala) c.14024G>C (p.Gly4675Ala) c.14054G>C (p.Gly4685Ala) c.13970G>C (p.Gly4657Ala) | |
| 19 | g.38573235G>T | CA405682217 | RYR1 | c.993G>T c.2390G>T c.2362G>T c.14057G>T (p.Gly4686Val) c.14042G>T (p.Gly4681Val) c.14039G>T (p.Gly4680Val) c.14024G>T (p.Gly4675Val) c.14054G>T (p.Gly4685Val) c.13970G>T (p.Gly4657Val) | |
| 19 | g.38573236C>A | CA507245156 | RYR1 | c.994C>A c.2391C>A c.2363C>A c.14058C>A (p.Gly4686=) c.14043C>A (p.Gly4681=) c.14040C>A (p.Gly4680=) c.14025C>A (p.Gly4675=) c.14055C>A (p.Gly4685=) c.13971C>A (p.Gly4657=) | |
| 19 | g.38573236C= | CA2335088991 | RYR1 | c.994C= c.2391C= c.2363C= c.14058C= (p.Gly4686=) c.14043C= (p.Gly4681=) c.14040C= (p.Gly4680=) c.14025C= (p.Gly4675=) c.14055C= (p.Gly4685=) c.13971C= (p.Gly4657=) | |
| 19 | g.38573236C>G | CA10587336 | RYR1 | c.994C>G c.2391C>G c.2363C>G c.14058C>G (p.Gly4686=) c.14043C>G (p.Gly4681=) c.14040C>G (p.Gly4680=) c.14025C>G (p.Gly4675=) c.14055C>G (p.Gly4685=) c.13971C>G (p.Gly4657=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38573236C>T | CA507245157 | RYR1 | c.994C>T c.2391C>T c.2363C>T c.14058C>T (p.Gly4686=) c.14043C>T (p.Gly4681=) c.14040C>T (p.Gly4680=) c.14025C>T (p.Gly4675=) c.14055C>T (p.Gly4685=) c.13971C>T (p.Gly4657=) | dbSNP gnomAD v4 |
| 19 | g.38573237C>A | CA060788 | RYR1 | c.995C>A c.2392C>A c.2364C>A c.14059C>A (p.Leu4687Met) c.14044C>A (p.Leu4682Met) c.14041C>A (p.Leu4681Met) c.14026C>A (p.Leu4676Met) c.14056C>A (p.Leu4686Met) c.13972C>A (p.Leu4658Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38573237C= | CA2335088992 | RYR1 | c.995C= c.2392C= c.2364C= c.14059C= (p.Leu4687=) c.14044C= (p.Leu4682=) c.14041C= (p.Leu4681=) c.14026C= (p.Leu4676=) c.14056C= (p.Leu4686=) c.13972C= (p.Leu4658=) | |
| 19 | g.38573237C>G | CA405682223 | RYR1 | c.995C>G c.2392C>G c.2364C>G c.14059C>G (p.Leu4687Val) c.14044C>G (p.Leu4682Val) c.14041C>G (p.Leu4681Val) c.14026C>G (p.Leu4676Val) c.14056C>G (p.Leu4686Val) c.13972C>G (p.Leu4658Val) | |
| 19 | g.38573237C>T | CA507245158 | RYR1 | c.995C>T c.2392C>T c.2364C>T c.14059C>T (p.Leu4687=) c.14044C>T (p.Leu4682=) c.14041C>T (p.Leu4681=) c.14026C>T (p.Leu4676=) c.14056C>T (p.Leu4686=) c.13972C>T (p.Leu4658=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38573238T>A | CA405682233 | RYR1 | c.996T>A c.2393T>A c.2365T>A c.14060T>A (p.Leu4687Gln) c.14045T>A (p.Leu4682Gln) c.14042T>A (p.Leu4681Gln) c.14027T>A (p.Leu4676Gln) c.14057T>A (p.Leu4686Gln) c.13973T>A (p.Leu4658Gln) | |
| 19 | g.38573238T>C | CA405682243 | RYR1 | c.996T>C c.2393T>C c.2365T>C c.14060T>C (p.Leu4687Pro) c.14045T>C (p.Leu4682Pro) c.14042T>C (p.Leu4681Pro) c.14027T>C (p.Leu4676Pro) c.14057T>C (p.Leu4686Pro) c.13973T>C (p.Leu4658Pro) | gnomAD v4 |
| 19 | g.38573238T>G | CA405682237 | RYR1 | c.996T>G c.2393T>G c.2365T>G c.14060T>G (p.Leu4687Arg) c.14045T>G (p.Leu4682Arg) c.14042T>G (p.Leu4681Arg) c.14027T>G (p.Leu4676Arg) c.14057T>G (p.Leu4686Arg) c.13973T>G (p.Leu4658Arg) | |
| 19 | g.38573239G>A | CA024102 | RYR1 | c.997G>A c.2394G>A c.2366G>A c.14061G>A (p.Leu4687=) c.14046G>A (p.Leu4682=) c.14043G>A (p.Leu4681=) c.14028G>A (p.Leu4676=) c.14058G>A (p.Leu4686=) c.13974G>A (p.Leu4658=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38573239G>C | CA507245160 | RYR1 | c.997G>C c.2394G>C c.2366G>C c.14061G>C (p.Leu4687=) c.14046G>C (p.Leu4682=) c.14043G>C (p.Leu4681=) c.14028G>C (p.Leu4676=) c.14058G>C (p.Leu4686=) c.13974G>C (p.Leu4658=) | |
| 19 | g.38573239G= | CA2335088993 | RYR1 | c.997G= c.2394G= c.2366G= c.14061G= (p.Leu4687=) c.14046G= (p.Leu4682=) c.14043G= (p.Leu4681=) c.14028G= (p.Leu4676=) c.14058G= (p.Leu4686=) c.13974G= (p.Leu4658=) | |
| 19 | g.38573239G>T | CA507245159 | RYR1 | c.997G>T c.2394G>T c.2366G>T c.14061G>T (p.Leu4687=) c.14046G>T (p.Leu4682=) c.14043G>T (p.Leu4681=) c.14028G>T (p.Leu4676=) c.14058G>T (p.Leu4686=) c.13974G>T (p.Leu4658=) | |
| 19 | g.38573240T>A | CA405682254 | RYR1 | c.998T>A c.2395T>A c.2367T>A c.14062T>A (p.Tyr4688Asn) c.14047T>A (p.Tyr4683Asn) c.14044T>A (p.Tyr4682Asn) c.14029T>A (p.Tyr4677Asn) c.14059T>A (p.Tyr4687Asn) c.13975T>A (p.Tyr4659Asn) | |
| 19 | g.38573240T>C | CA405682257 | RYR1 | c.998T>C c.2395T>C c.2367T>C c.14062T>C (p.Tyr4688His) c.14047T>C (p.Tyr4683His) c.14044T>C (p.Tyr4682His) c.14029T>C (p.Tyr4677His) c.14059T>C (p.Tyr4687His) c.13975T>C (p.Tyr4659His) | COSMIC |
| 19 | g.38573240T>G | CA405682260 | RYR1 | c.998T>G c.2395T>G c.2367T>G c.14062T>G (p.Tyr4688Asp) c.14047T>G (p.Tyr4683Asp) c.14044T>G (p.Tyr4682Asp) c.14029T>G (p.Tyr4677Asp) c.14059T>G (p.Tyr4687Asp) c.13975T>G (p.Tyr4659Asp) | |
| 19 | g.38573241A>C | CA405682288 | RYR1 | c.999A>C c.2396A>C c.2368A>C c.14063A>C (p.Tyr4688Ser) c.14048A>C (p.Tyr4683Ser) c.14045A>C (p.Tyr4682Ser) c.14030A>C (p.Tyr4677Ser) c.14060A>C (p.Tyr4687Ser) c.13976A>C (p.Tyr4659Ser) | |
| 19 | g.38573241A>G | CA405682285 | RYR1 | c.999A>G c.2396A>G c.2368A>G c.14063A>G (p.Tyr4688Cys) c.14048A>G (p.Tyr4683Cys) c.14045A>G (p.Tyr4682Cys) c.14030A>G (p.Tyr4677Cys) c.14060A>G (p.Tyr4687Cys) c.13976A>G (p.Tyr4659Cys) | ClinVar |
| 19 | g.38573241A>T | CA405682275 | RYR1 | c.999A>T c.2396A>T c.2368A>T c.14063A>T (p.Tyr4688Phe) c.14048A>T (p.Tyr4683Phe) c.14045A>T (p.Tyr4682Phe) c.14030A>T (p.Tyr4677Phe) c.14060A>T (p.Tyr4687Phe) c.13976A>T (p.Tyr4659Phe) | |
| 19 | g.38573242C>A | CA405682292 | RYR1 | c.1000C>A c.2397C>A c.2369C>A c.14064C>A (p.Tyr4688Ter) c.14049C>A (p.Tyr4683Ter) c.14046C>A (p.Tyr4682Ter) c.14031C>A (p.Tyr4677Ter) c.14061C>A (p.Tyr4687Ter) c.13977C>A (p.Tyr4659Ter) | |
| 19 | g.38573242C= | CA2335088994 | RYR1 | c.1000C= c.2397C= c.2369C= c.14064C= (p.Tyr4688=) c.14049C= (p.Tyr4683=) c.14046C= (p.Tyr4682=) c.14031C= (p.Tyr4677=) c.14061C= (p.Tyr4687=) c.13977C= (p.Tyr4659=) | |
| 19 | g.38573242C>G | CA405682297 | RYR1 | c.1000C>G c.2397C>G c.2369C>G c.14064C>G (p.Tyr4688Ter) c.14049C>G (p.Tyr4683Ter) c.14046C>G (p.Tyr4682Ter) c.14031C>G (p.Tyr4677Ter) c.14061C>G (p.Tyr4687Ter) c.13977C>G (p.Tyr4659Ter) | |
| 19 | g.38573242C>T | CA507245161 | RYR1 | c.1000C>T c.2397C>T c.2369C>T c.14064C>T (p.Tyr4688=) c.14049C>T (p.Tyr4683=) c.14046C>T (p.Tyr4682=) c.14031C>T (p.Tyr4677=) c.14061C>T (p.Tyr4687=) c.13977C>T (p.Tyr4659=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38573243A= | CA2335088995 | RYR1 | c.1001A= c.2398A= c.2370A= c.14065A= (p.Ile4689=) c.14050A= (p.Ile4684=) c.14047A= (p.Ile4683=) c.14032A= (p.Ile4678=) c.14062A= (p.Ile4688=) c.13978A= (p.Ile4660=) | |
| 19 | g.38573243A>C | CA405682300 | RYR1 | c.1001A>C c.2398A>C c.2370A>C c.14065A>C (p.Ile4689Leu) c.14050A>C (p.Ile4684Leu) c.14047A>C (p.Ile4683Leu) c.14032A>C (p.Ile4678Leu) c.14062A>C (p.Ile4688Leu) c.13978A>C (p.Ile4660Leu) | |
| 19 | g.38573243A>G | CA405682309 | RYR1 | c.1001A>G c.2398A>G c.2370A>G c.14065A>G (p.Ile4689Val) c.14050A>G (p.Ile4684Val) c.14047A>G (p.Ile4683Val) c.14032A>G (p.Ile4678Val) c.14062A>G (p.Ile4688Val) c.13978A>G (p.Ile4660Val) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.38573243A>T | CA405682313 | RYR1 | c.1001A>T c.2398A>T c.2370A>T c.14065A>T (p.Ile4689Phe) c.14050A>T (p.Ile4684Phe) c.14047A>T (p.Ile4683Phe) c.14032A>T (p.Ile4678Phe) c.14062A>T (p.Ile4688Phe) c.13978A>T (p.Ile4660Phe) | |
| 19 | g.38573244T>A | CA405682326 | RYR1 | c.1002T>A c.2399T>A c.2371T>A c.14066T>A (p.Ile4689Asn) c.14051T>A (p.Ile4684Asn) c.14048T>A (p.Ile4683Asn) c.14033T>A (p.Ile4678Asn) c.14063T>A (p.Ile4688Asn) c.13979T>A (p.Ile4660Asn) | |
| 19 | g.38573244T>C | CA405682328 | RYR1 | c.1002T>C c.2399T>C c.2371T>C c.14066T>C (p.Ile4689Thr) c.14051T>C (p.Ile4684Thr) c.14048T>C (p.Ile4683Thr) c.14033T>C (p.Ile4678Thr) c.14063T>C (p.Ile4688Thr) c.13979T>C (p.Ile4660Thr) | |
| 19 | g.38573244T>G | CA405682330 | RYR1 | c.1002T>G c.2399T>G c.2371T>G c.14066T>G (p.Ile4689Ser) c.14051T>G (p.Ile4684Ser) c.14048T>G (p.Ile4683Ser) c.14033T>G (p.Ile4678Ser) c.14063T>G (p.Ile4688Ser) c.13979T>G (p.Ile4660Ser) | |
| 19 | g.38573245C>A | CA507245162 | RYR1 | c.1003C>A c.2400C>A c.2372C>A c.14067C>A (p.Ile4689=) c.14052C>A (p.Ile4684=) c.14049C>A (p.Ile4683=) c.14034C>A (p.Ile4678=) c.14064C>A (p.Ile4688=) c.13980C>A (p.Ile4660=) | |
| 19 | g.38573245C= | CA2335088996 | RYR1 | c.1003C= c.2400C= c.2372C= c.14067C= (p.Ile4689=) c.14052C= (p.Ile4684=) c.14049C= (p.Ile4683=) c.14034C= (p.Ile4678=) c.14064C= (p.Ile4688=) c.13980C= (p.Ile4660=) | |
| 19 | g.38573245C>G | CA405682334 | RYR1 | c.1003C>G c.2400C>G c.2372C>G c.14067C>G (p.Ile4689Met) c.14052C>G (p.Ile4684Met) c.14049C>G (p.Ile4683Met) c.14034C>G (p.Ile4678Met) c.14064C>G (p.Ile4688Met) c.13980C>G (p.Ile4660Met) | |
| 19 | g.38573245C>T | CA507245163 | RYR1 | c.1003C>T c.2400C>T c.2372C>T c.14067C>T (p.Ile4689=) c.14052C>T (p.Ile4684=) c.14049C>T (p.Ile4683=) c.14034C>T (p.Ile4678=) c.14064C>T (p.Ile4688=) c.13980C>T (p.Ile4660=) | dbSNP |
| 19 | g.38573246A>C | CA405682341 | RYR1 | c.1004A>C c.2401A>C c.2373A>C c.14068A>C (p.Thr4690Pro) c.14053A>C (p.Thr4685Pro) c.14050A>C (p.Thr4684Pro) c.14035A>C (p.Thr4679Pro) c.14065A>C (p.Thr4689Pro) c.13981A>C (p.Thr4661Pro) | |
| 19 | g.38573246A>G | CA405682345 | RYR1 | c.1004A>G c.2401A>G c.2373A>G c.14068A>G (p.Thr4690Ala) c.14053A>G (p.Thr4685Ala) c.14050A>G (p.Thr4684Ala) c.14035A>G (p.Thr4679Ala) c.14065A>G (p.Thr4689Ala) c.13981A>G (p.Thr4661Ala) | |
| 19 | g.38573246A>T | CA405682342 | RYR1 | c.1004A>T c.2401A>T c.2373A>T c.14068A>T (p.Thr4690Ser) c.14053A>T (p.Thr4685Ser) c.14050A>T (p.Thr4684Ser) c.14035A>T (p.Thr4679Ser) c.14065A>T (p.Thr4689Ser) c.13981A>T (p.Thr4661Ser) | |
| 19 | g.38573247C>A | CA405682355 | RYR1 | c.1005C>A c.2402C>A c.2374C>A c.14069C>A (p.Thr4690Lys) c.14054C>A (p.Thr4685Lys) c.14051C>A (p.Thr4684Lys) c.14036C>A (p.Thr4679Lys) c.14066C>A (p.Thr4689Lys) c.13982C>A (p.Thr4661Lys) | |
| 19 | g.38573247C= | CA2335088997 | RYR1 | c.1005C= c.2402C= c.2374C= c.14069C= (p.Thr4690=) c.14054C= (p.Thr4685=) c.14051C= (p.Thr4684=) c.14036C= (p.Thr4679=) c.14066C= (p.Thr4689=) c.13982C= (p.Thr4661=) | |
| 19 | g.38573247C>G | CA405682358 | RYR1 | c.1005C>G c.2402C>G c.2374C>G c.14069C>G (p.Thr4690Arg) c.14054C>G (p.Thr4685Arg) c.14051C>G (p.Thr4684Arg) c.14036C>G (p.Thr4679Arg) c.14066C>G (p.Thr4689Arg) c.13982C>G (p.Thr4661Arg) | |
| 19 | g.38573247C>T | CA405682359 | RYR1 | c.1005C>T c.2402C>T c.2374C>T c.14069C>T (p.Thr4690Met) c.14054C>T (p.Thr4685Met) c.14051C>T (p.Thr4684Met) c.14036C>T (p.Thr4679Met) c.14066C>T (p.Thr4689Met) c.13982C>T (p.Thr4661Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38573248G>A | CA060795 | RYR1 | c.1006G>A c.2403G>A c.2375G>A c.14070G>A (p.Thr4690=) c.14055G>A (p.Thr4685=) c.14052G>A (p.Thr4684=) c.14037G>A (p.Thr4679=) c.14067G>A (p.Thr4689=) c.13983G>A (p.Thr4661=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38573248G>C | CA507245164 | RYR1 | c.1006G>C c.2403G>C c.2375G>C c.14070G>C (p.Thr4690=) c.14055G>C (p.Thr4685=) c.14052G>C (p.Thr4684=) c.14037G>C (p.Thr4679=) c.14067G>C (p.Thr4689=) c.13983G>C (p.Thr4661=) | |
| 19 | g.38573248G= | CA2335088998 | RYR1 | c.1006G= c.2403G= c.2375G= c.14070G= (p.Thr4690=) c.14055G= (p.Thr4685=) c.14052G= (p.Thr4684=) c.14037G= (p.Thr4679=) c.14067G= (p.Thr4689=) c.13983G= (p.Thr4661=) | |
| 19 | g.38573248G>T | CA507245165 | RYR1 | c.1006G>T c.2403G>T c.2375G>T c.14070G>T (p.Thr4690=) c.14055G>T (p.Thr4685=) c.14052G>T (p.Thr4684=) c.14037G>T (p.Thr4679=) c.14067G>T (p.Thr4689=) c.13983G>T (p.Thr4661=) | |
| 19 | g.38573249G>A | CA405682360 | RYR1 | c.1007G>A c.2404G>A c.2376G>A c.14071G>A (p.Glu4691Lys) c.14056G>A (p.Glu4686Lys) c.14053G>A (p.Glu4685Lys) c.14038G>A (p.Glu4680Lys) c.14068G>A (p.Glu4690Lys) c.13984G>A (p.Glu4662Lys) | dbSNP |
| 19 | g.38573249G>C | CA405682364 | RYR1 | c.1007G>C c.2404G>C c.2376G>C c.14071G>C (p.Glu4691Gln) c.14056G>C (p.Glu4686Gln) c.14053G>C (p.Glu4685Gln) c.14038G>C (p.Glu4680Gln) c.14068G>C (p.Glu4690Gln) c.13984G>C (p.Glu4662Gln) | |
| 19 | g.38573249G>T | CA405682361 | RYR1 | c.1007G>T c.2404G>T c.2376G>T c.14071G>T (p.Glu4691Ter) c.14056G>T (p.Glu4686Ter) c.14053G>T (p.Glu4685Ter) c.14038G>T (p.Glu4680Ter) c.14068G>T (p.Glu4690Ter) c.13984G>T (p.Glu4662Ter) | |
| 19 | g.38573250A>C | CA405682367 | RYR1 | c.1008A>C c.2405A>C c.2377A>C c.14072A>C (p.Glu4691Ala) c.14057A>C (p.Glu4686Ala) c.14054A>C (p.Glu4685Ala) c.14039A>C (p.Glu4680Ala) c.14069A>C (p.Glu4690Ala) c.13985A>C (p.Glu4662Ala) | |
| 19 | g.38573250A>G | CA405682372 | RYR1 | c.1008A>G c.2405A>G c.2377A>G c.14072A>G (p.Glu4691Gly) c.14057A>G (p.Glu4686Gly) c.14054A>G (p.Glu4685Gly) c.14039A>G (p.Glu4680Gly) c.14069A>G (p.Glu4690Gly) c.13985A>G (p.Glu4662Gly) | |
| 19 | g.38573250A>T | CA405682377 | RYR1 | c.1008A>T c.2405A>T c.2377A>T c.14072A>T (p.Glu4691Val) c.14057A>T (p.Glu4686Val) c.14054A>T (p.Glu4685Val) c.14039A>T (p.Glu4680Val) c.14069A>T (p.Glu4690Val) c.13985A>T (p.Glu4662Val) | COSMIC |
| 19 | g.38573251G>A | CA081079 | RYR1 | c.1009G>A c.2406G>A c.2378G>A c.14073G>A (p.Glu4691=) c.14058G>A (p.Glu4686=) c.14055G>A (p.Glu4685=) c.14040G>A (p.Glu4680=) c.14070G>A (p.Glu4690=) c.13986G>A (p.Glu4662=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38573251G>C | CA405682382 | RYR1 | c.1009G>C c.2406G>C c.2378G>C c.14073G>C (p.Glu4691Asp) c.14058G>C (p.Glu4686Asp) c.14055G>C (p.Glu4685Asp) c.14040G>C (p.Glu4680Asp) c.14070G>C (p.Glu4690Asp) c.13986G>C (p.Glu4662Asp) | |
| 19 | g.38573251G= | CA2335088999 | RYR1 | c.1009G= c.2406G= c.2378G= c.14073G= (p.Glu4691=) c.14058G= (p.Glu4686=) c.14055G= (p.Glu4685=) c.14040G= (p.Glu4680=) c.14070G= (p.Glu4690=) c.13986G= (p.Glu4662=) | |
| 19 | g.38573251G>T | CA405682385 | RYR1 | c.1009G>T c.2406G>T c.2378G>T c.14073G>T (p.Glu4691Asp) c.14058G>T (p.Glu4686Asp) c.14055G>T (p.Glu4685Asp) c.14040G>T (p.Glu4680Asp) c.14070G>T (p.Glu4690Asp) c.13986G>T (p.Glu4662Asp) | |
| 19 | g.38573252C>A | CA405682391 | RYR1 | c.1010C>A c.2407C>A c.2379C>A c.14074C>A (p.Gln4692Lys) c.14059C>A (p.Gln4687Lys) c.14056C>A (p.Gln4686Lys) c.14041C>A (p.Gln4681Lys) c.14071C>A (p.Gln4691Lys) c.13987C>A (p.Gln4663Lys) | |
| 19 | g.38573252C>G | CA405682392 | RYR1 | c.1010C>G c.2407C>G c.2379C>G c.14074C>G (p.Gln4692Glu) c.14059C>G (p.Gln4687Glu) c.14056C>G (p.Gln4686Glu) c.14041C>G (p.Gln4681Glu) c.14071C>G (p.Gln4691Glu) c.13987C>G (p.Gln4663Glu) | |
| 19 | g.38573252C>T | CA405682395 | RYR1 | c.1010C>T c.2407C>T c.2379C>T c.14074C>T (p.Gln4692Ter) c.14059C>T (p.Gln4687Ter) c.14056C>T (p.Gln4686Ter) c.14041C>T (p.Gln4681Ter) c.14071C>T (p.Gln4691Ter) c.13987C>T (p.Gln4663Ter) | |
| 19 | g.38573253A>C | CA405682398 | RYR1 | c.1011A>C c.2408A>C c.2380A>C c.14075A>C (p.Gln4692Pro) c.14060A>C (p.Gln4687Pro) c.14057A>C (p.Gln4686Pro) c.14042A>C (p.Gln4681Pro) c.14072A>C (p.Gln4691Pro) c.13988A>C (p.Gln4663Pro) | |
| 19 | g.38573253A>G | CA405682399 | RYR1 | c.1011A>G c.2408A>G c.2380A>G c.14075A>G (p.Gln4692Arg) c.14060A>G (p.Gln4687Arg) c.14057A>G (p.Gln4686Arg) c.14042A>G (p.Gln4681Arg) c.14072A>G (p.Gln4691Arg) c.13988A>G (p.Gln4663Arg) | |
| 19 | g.38573253A>T | CA405682401 | RYR1 | c.1011A>T c.2408A>T c.2380A>T c.14075A>T (p.Gln4692Leu) c.14060A>T (p.Gln4687Leu) c.14057A>T (p.Gln4686Leu) c.14042A>T (p.Gln4681Leu) c.14072A>T (p.Gln4691Leu) c.13988A>T (p.Gln4663Leu) | |
| 19 | g.38573254G>A | CA507245166 | RYR1 | c.1012G>A c.2409G>A c.2381G>A c.14076G>A (p.Gln4692=) c.14061G>A (p.Gln4687=) c.14058G>A (p.Gln4686=) c.14043G>A (p.Gln4681=) c.14073G>A (p.Gln4691=) c.13989G>A (p.Gln4663=) | |
| 19 | g.38573254G>C | CA405682405 | RYR1 | c.1012G>C c.2409G>C c.2381G>C c.14076G>C (p.Gln4692His) c.14061G>C (p.Gln4687His) c.14058G>C (p.Gln4686His) c.14043G>C (p.Gln4681His) c.14073G>C (p.Gln4691His) c.13989G>C (p.Gln4663His) | |
| 19 | g.38573254G>T | CA405682404 | RYR1 | c.1012G>T c.2409G>T c.2381G>T c.14076G>T (p.Gln4692His) c.14061G>T (p.Gln4687His) c.14058G>T (p.Gln4686His) c.14043G>T (p.Gln4681His) c.14073G>T (p.Gln4691His) c.13989G>T (p.Gln4663His) | |
| 19 | g.38573255C>A | CA405682408 | RYR1 | c.1013C>A c.2410C>A c.2382C>A c.14077C>A (p.Pro4693Thr) c.14062C>A (p.Pro4688Thr) c.14059C>A (p.Pro4687Thr) c.14044C>A (p.Pro4682Thr) c.14074C>A (p.Pro4692Thr) c.13990C>A (p.Pro4664Thr) | gnomAD v4 |
| 19 | g.38573255C= | CA2335089000 | RYR1 | c.1013C= c.2410C= c.2382C= c.14077C= (p.Pro4693=) c.14062C= (p.Pro4688=) c.14059C= (p.Pro4687=) c.14044C= (p.Pro4682=) c.14074C= (p.Pro4692=) c.13990C= (p.Pro4664=) | |
| 19 | g.38573255C>G | CA405682411 | RYR1 | c.1013C>G c.2410C>G c.2382C>G c.14077C>G (p.Pro4693Ala) c.14062C>G (p.Pro4688Ala) c.14059C>G (p.Pro4687Ala) c.14044C>G (p.Pro4682Ala) c.14074C>G (p.Pro4692Ala) c.13990C>G (p.Pro4664Ala) | dbSNP |
| 19 | g.38573255C>T | CA405682414 | RYR1 | c.1013C>T c.2410C>T c.2382C>T c.14077C>T (p.Pro4693Ser) c.14062C>T (p.Pro4688Ser) c.14059C>T (p.Pro4687Ser) c.14044C>T (p.Pro4682Ser) c.14074C>T (p.Pro4692Ser) c.13990C>T (p.Pro4664Ser) | |
| 19 | g.38573256C>A | CA405682415 | RYR1 | c.1014C>A c.2411C>A c.2383C>A c.14078C>A (p.Pro4693His) c.14063C>A (p.Pro4688His) c.14060C>A (p.Pro4687His) c.14045C>A (p.Pro4682His) c.14075C>A (p.Pro4692His) c.13991C>A (p.Pro4664His) | |
| 19 | g.38573256C= | CA2335089001 | RYR1 | c.1014C= c.2411C= c.2383C= c.14078C= (p.Pro4693=) c.14063C= (p.Pro4688=) c.14060C= (p.Pro4687=) c.14045C= (p.Pro4682=) c.14075C= (p.Pro4692=) c.13991C= (p.Pro4664=) | |
| 19 | g.38573256C>G | CA405682416 | RYR1 | c.1014C>G c.2411C>G c.2383C>G c.14078C>G (p.Pro4693Arg) c.14063C>G (p.Pro4688Arg) c.14060C>G (p.Pro4687Arg) c.14045C>G (p.Pro4682Arg) c.14075C>G (p.Pro4692Arg) c.13991C>G (p.Pro4664Arg) | gnomAD v4 |
| 19 | g.38573256C>T | CA405682418 | RYR1 | c.1014C>T c.2411C>T c.2383C>T c.14078C>T (p.Pro4693Leu) c.14063C>T (p.Pro4688Leu) c.14060C>T (p.Pro4687Leu) c.14045C>T (p.Pro4682Leu) c.14075C>T (p.Pro4692Leu) c.13991C>T (p.Pro4664Leu) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38573257T>A | CA507245167 | RYR1 | c.1015T>A c.2412T>A c.2384T>A c.14079T>A (p.Pro4693=) c.14064T>A (p.Pro4688=) c.14061T>A (p.Pro4687=) c.14046T>A (p.Pro4682=) c.14076T>A (p.Pro4692=) c.13992T>A (p.Pro4664=) | |
| 19 | g.38573257T>C | CA507245168 | RYR1 | c.1015T>C c.2412T>C c.2384T>C c.14079T>C (p.Pro4693=) c.14064T>C (p.Pro4688=) c.14061T>C (p.Pro4687=) c.14046T>C (p.Pro4682=) c.14076T>C (p.Pro4692=) c.13992T>C (p.Pro4664=) | gnomAD v4 |
| 19 | g.38573257T>G | CA507245169 | RYR1 | c.1015T>G c.2412T>G c.2384T>G c.14079T>G (p.Pro4693=) c.14064T>G (p.Pro4688=) c.14061T>G (p.Pro4687=) c.14046T>G (p.Pro4682=) c.14076T>G (p.Pro4692=) c.13992T>G (p.Pro4664=) | |
| 19 | g.38573258G>A | CA405682423 | RYR1 | c.1016G>A c.2413G>A c.2385G>A c.14080G>A (p.Glu4694Lys) c.14065G>A (p.Glu4689Lys) c.14062G>A (p.Glu4688Lys) c.14047G>A (p.Glu4683Lys) c.14077G>A (p.Glu4693Lys) c.13993G>A (p.Glu4665Lys) | dbSNP |
| 19 | g.38573258G>C | CA405682419 | RYR1 | c.1016G>C c.2413G>C c.2385G>C c.14080G>C (p.Glu4694Gln) c.14065G>C (p.Glu4689Gln) c.14062G>C (p.Glu4688Gln) c.14047G>C (p.Glu4683Gln) c.14077G>C (p.Glu4693Gln) c.13993G>C (p.Glu4665Gln) | |
| 19 | g.38573258G>T | CA405682421 | RYR1 | c.1016G>T c.2413G>T c.2385G>T c.14080G>T (p.Glu4694Ter) c.14065G>T (p.Glu4689Ter) c.14062G>T (p.Glu4688Ter) c.14047G>T (p.Glu4683Ter) c.14077G>T (p.Glu4693Ter) c.13993G>T (p.Glu4665Ter) | |
| 19 | g.38573259A>C | CA405682425 | RYR1 | c.1017A>C c.2414A>C c.2386A>C c.14081A>C (p.Glu4694Ala) c.14066A>C (p.Glu4689Ala) c.14063A>C (p.Glu4688Ala) c.14048A>C (p.Glu4683Ala) c.14078A>C (p.Glu4693Ala) c.13994A>C (p.Glu4665Ala) | gnomAD v4 |
| 19 | g.38573259A>G | CA405682426 | RYR1 | c.1017A>G c.2414A>G c.2386A>G c.14081A>G (p.Glu4694Gly) c.14066A>G (p.Glu4689Gly) c.14063A>G (p.Glu4688Gly) c.14048A>G (p.Glu4683Gly) c.14078A>G (p.Glu4693Gly) c.13994A>G (p.Glu4665Gly) | |
| 19 | g.38573259A>T | CA405682428 | RYR1 | c.1017A>T c.2414A>T c.2386A>T c.14081A>T (p.Glu4694Val) c.14066A>T (p.Glu4689Val) c.14063A>T (p.Glu4688Val) c.14048A>T (p.Glu4683Val) c.14078A>T (p.Glu4693Val) c.13994A>T (p.Glu4665Val) | |
| 19 | g.38573260G>A | CA507245170 | RYR1 | c.1018G>A c.2415G>A c.2387G>A c.14082G>A (p.Glu4694=) c.14067G>A (p.Glu4689=) c.14064G>A (p.Glu4688=) c.14049G>A (p.Glu4683=) c.14079G>A (p.Glu4693=) c.13995G>A (p.Glu4665=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38573260G>C | CA405682431 | RYR1 | c.1018G>C c.2415G>C c.2387G>C c.14082G>C (p.Glu4694Asp) c.14067G>C (p.Glu4689Asp) c.14064G>C (p.Glu4688Asp) c.14049G>C (p.Glu4683Asp) c.14079G>C (p.Glu4693Asp) c.13995G>C (p.Glu4665Asp) | |
| 19 | g.38573260G= | CA2335089002 | RYR1 | c.1018G= c.2415G= c.2387G= c.14082G= (p.Glu4694=) c.14067G= (p.Glu4689=) c.14064G= (p.Glu4688=) c.14049G= (p.Glu4683=) c.14079G= (p.Glu4693=) c.13995G= (p.Glu4665=) | |
| 19 | g.38573260G>T | CA405682433 | RYR1 | c.1018G>T c.2415G>T c.2387G>T c.14082G>T (p.Glu4694Asp) c.14067G>T (p.Glu4689Asp) c.14064G>T (p.Glu4688Asp) c.14049G>T (p.Glu4683Asp) c.14079G>T (p.Glu4693Asp) c.13995G>T (p.Glu4665Asp) | |
| 19 | g.38573261G>A | CA405682440 | RYR1 | c.1019G>A c.2416G>A c.2388G>A c.14083G>A (p.Asp4695Asn) c.14068G>A (p.Asp4690Asn) c.14065G>A (p.Asp4689Asn) c.14050G>A (p.Asp4684Asn) c.14080G>A (p.Asp4694Asn) c.13996G>A (p.Asp4666Asn) | |
| 19 | g.38573261G>C | CA405682435 | RYR1 | c.1019G>C c.2416G>C c.2388G>C c.14083G>C (p.Asp4695His) c.14068G>C (p.Asp4690His) c.14065G>C (p.Asp4689His) c.14050G>C (p.Asp4684His) c.14080G>C (p.Asp4694His) c.13996G>C (p.Asp4666His) | |
| 19 | g.38573261G>T | CA405682438 | RYR1 | c.1019G>T c.2416G>T c.2388G>T c.14083G>T (p.Asp4695Tyr) c.14068G>T (p.Asp4690Tyr) c.14065G>T (p.Asp4689Tyr) c.14050G>T (p.Asp4684Tyr) c.14080G>T (p.Asp4694Tyr) c.13996G>T (p.Asp4666Tyr) | |
| 19 | g.38573262A= | CA2335089003 | RYR1 | c.1020A= c.2417A= c.2389A= c.14084A= (p.Asp4695=) c.14069A= (p.Asp4690=) c.14066A= (p.Asp4689=) c.14051A= (p.Asp4684=) c.14081A= (p.Asp4694=) c.13997A= (p.Asp4666=) | |
| 19 | g.38573262A>C | CA405682441 | RYR1 | c.1020A>C c.2417A>C c.2389A>C c.14084A>C (p.Asp4695Ala) c.14069A>C (p.Asp4690Ala) c.14066A>C (p.Asp4689Ala) c.14051A>C (p.Asp4684Ala) c.14081A>C (p.Asp4694Ala) c.13997A>C (p.Asp4666Ala) | gnomAD v4 |
| 19 | g.38573262A>G | CA405682443 | RYR1 | c.1020A>G c.2417A>G c.2389A>G c.14084A>G (p.Asp4695Gly) c.14069A>G (p.Asp4690Gly) c.14066A>G (p.Asp4689Gly) c.14051A>G (p.Asp4684Gly) c.14081A>G (p.Asp4694Gly) c.13997A>G (p.Asp4666Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38573262A>T | CA405682444 | RYR1 | c.1020A>T c.2417A>T c.2389A>T c.14084A>T (p.Asp4695Val) c.14069A>T (p.Asp4690Val) c.14066A>T (p.Asp4689Val) c.14051A>T (p.Asp4684Val) c.14081A>T (p.Asp4694Val) c.13997A>T (p.Asp4666Val) | |
| 19 | g.38573263C>A | CA405682446 | RYR1 | c.1021C>A c.2418C>A c.2390C>A c.14085C>A (p.Asp4695Glu) c.14070C>A (p.Asp4690Glu) c.14067C>A (p.Asp4689Glu) c.14052C>A (p.Asp4684Glu) c.14082C>A (p.Asp4694Glu) c.13998C>A (p.Asp4666Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38573263C= | CA2335089004 | RYR1 | c.1021C= c.2418C= c.2390C= c.14085C= (p.Asp4695=) c.14070C= (p.Asp4690=) c.14067C= (p.Asp4689=) c.14052C= (p.Asp4684=) c.14082C= (p.Asp4694=) c.13998C= (p.Asp4666=) | |
| 19 | g.38573263C>G | CA405682449 | RYR1 | c.1021C>G c.2418C>G c.2390C>G c.14085C>G (p.Asp4695Glu) c.14070C>G (p.Asp4690Glu) c.14067C>G (p.Asp4689Glu) c.14052C>G (p.Asp4684Glu) c.14082C>G (p.Asp4694Glu) c.13998C>G (p.Asp4666Glu) | |
| 19 | g.38573263C>T | CA507245171 | RYR1 | c.1021C>T c.2418C>T c.2390C>T c.14085C>T (p.Asp4695=) c.14070C>T (p.Asp4690=) c.14067C>T (p.Asp4689=) c.14052C>T (p.Asp4684=) c.14082C>T (p.Asp4694=) c.13998C>T (p.Asp4666=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38573264G>A | CA060802 | RYR1 | c.1022G>A c.2419G>A c.2391G>A c.14086G>A (p.Asp4696Asn) c.14071G>A (p.Asp4691Asn) c.14068G>A (p.Asp4690Asn) c.14053G>A (p.Asp4685Asn) c.14083G>A (p.Asp4695Asn) c.13999G>A (p.Asp4667Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38573264G>C | CA405682453 | RYR1 | c.1022G>C c.2419G>C c.2391G>C c.14086G>C (p.Asp4696His) c.14071G>C (p.Asp4691His) c.14068G>C (p.Asp4690His) c.14053G>C (p.Asp4685His) c.14083G>C (p.Asp4695His) c.13999G>C (p.Asp4667His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38573264G= | CA2335089005 | RYR1 | c.1022G= c.2419G= c.2391G= c.14086G= (p.Asp4696=) c.14071G= (p.Asp4691=) c.14068G= (p.Asp4690=) c.14053G= (p.Asp4685=) c.14083G= (p.Asp4695=) c.13999G= (p.Asp4667=) | |
| 19 | g.38573264G>T | CA405682454 | RYR1 | c.1022G>T c.2419G>T c.2391G>T c.14086G>T (p.Asp4696Tyr) c.14071G>T (p.Asp4691Tyr) c.14068G>T (p.Asp4690Tyr) c.14053G>T (p.Asp4685Tyr) c.14083G>T (p.Asp4695Tyr) c.13999G>T (p.Asp4667Tyr) | |
| 19 | g.38573265A>C | CA405682456 | RYR1 | c.1023A>C c.2420A>C c.2392A>C c.14087A>C (p.Asp4696Ala) c.14072A>C (p.Asp4691Ala) c.14069A>C (p.Asp4690Ala) c.14054A>C (p.Asp4685Ala) c.14084A>C (p.Asp4695Ala) c.14000A>C (p.Asp4667Ala) | |
| 19 | g.38573265A>G | CA405682459 | RYR1 | c.1023A>G c.2420A>G c.2392A>G c.14087A>G (p.Asp4696Gly) c.14072A>G (p.Asp4691Gly) c.14069A>G (p.Asp4690Gly) c.14054A>G (p.Asp4685Gly) c.14084A>G (p.Asp4695Gly) c.14000A>G (p.Asp4667Gly) | |
| 19 | g.38573265A>T | CA405682461 | RYR1 | c.1023A>T c.2420A>T c.2392A>T c.14087A>T (p.Asp4696Val) c.14072A>T (p.Asp4691Val) c.14069A>T (p.Asp4690Val) c.14054A>T (p.Asp4685Val) c.14084A>T (p.Asp4695Val) c.14000A>T (p.Asp4667Val) | |
| 19 | g.38573266T>A | CA405682464 | RYR1 | c.1024T>A c.2421T>A c.2393T>A c.14088T>A (p.Asp4696Glu) c.14073T>A (p.Asp4691Glu) c.14070T>A (p.Asp4690Glu) c.14055T>A (p.Asp4685Glu) c.14085T>A (p.Asp4695Glu) c.14001T>A (p.Asp4667Glu) | |
| 19 | g.38573266T>C | CA507245172 | RYR1 | c.1024T>C c.2421T>C c.2393T>C c.14088T>C (p.Asp4696=) c.14073T>C (p.Asp4691=) c.14070T>C (p.Asp4690=) c.14055T>C (p.Asp4685=) c.14085T>C (p.Asp4695=) c.14001T>C (p.Asp4667=) | |
| 19 | g.38573266T>G | CA405682466 | RYR1 | c.1024T>G c.2421T>G c.2393T>G c.14088T>G (p.Asp4696Glu) c.14073T>G (p.Asp4691Glu) c.14070T>G (p.Asp4690Glu) c.14055T>G (p.Asp4685Glu) c.14085T>G (p.Asp4695Glu) c.14001T>G (p.Asp4667Glu) | |
| 19 | g.38573267G>A | CA081080 | RYR1 | c.1025G>A c.2422G>A c.2394G>A c.14089G>A (p.Asp4697Asn) c.14074G>A (p.Asp4692Asn) c.14071G>A (p.Asp4691Asn) c.14056G>A (p.Asp4686Asn) c.14086G>A (p.Asp4696Asn) c.14002G>A (p.Asp4668Asn) | |
| 19 | g.38573267G>C | CA405682470 | RYR1 | c.1025G>C c.2422G>C c.2394G>C c.14089G>C (p.Asp4697His) c.14074G>C (p.Asp4692His) c.14071G>C (p.Asp4691His) c.14056G>C (p.Asp4686His) c.14086G>C (p.Asp4696His) c.14002G>C (p.Asp4668His) | gnomAD v4 |
| 19 | g.38573267G>T | CA405682468 | RYR1 | c.1025G>T c.2422G>T c.2394G>T c.14089G>T (p.Asp4697Tyr) c.14074G>T (p.Asp4692Tyr) c.14071G>T (p.Asp4691Tyr) c.14056G>T (p.Asp4686Tyr) c.14086G>T (p.Asp4696Tyr) c.14002G>T (p.Asp4668Tyr) | |
| 19 | g.38573268A>C | CA405682472 | RYR1 | c.1026A>C c.2423A>C c.2395A>C c.14090A>C (p.Asp4697Ala) c.14075A>C (p.Asp4692Ala) c.14072A>C (p.Asp4691Ala) c.14057A>C (p.Asp4686Ala) c.14087A>C (p.Asp4696Ala) c.14003A>C (p.Asp4668Ala) | |
| 19 | g.38573268A>G | CA405682476 | RYR1 | c.1026A>G c.2423A>G c.2395A>G c.14090A>G (p.Asp4697Gly) c.14075A>G (p.Asp4692Gly) c.14072A>G (p.Asp4691Gly) c.14057A>G (p.Asp4686Gly) c.14087A>G (p.Asp4696Gly) c.14003A>G (p.Asp4668Gly) | |
| 19 | g.38573268A>T | CA405682473 | RYR1 | c.1026A>T c.2423A>T c.2395A>T c.14090A>T (p.Asp4697Val) c.14075A>T (p.Asp4692Val) c.14072A>T (p.Asp4691Val) c.14057A>T (p.Asp4686Val) c.14087A>T (p.Asp4696Val) c.14003A>T (p.Asp4668Val) | |
| 19 | g.38573269C>A | CA405682478 | RYR1 | c.1027C>A c.2424C>A c.2396C>A c.14091C>A (p.Asp4697Glu) c.14076C>A (p.Asp4692Glu) c.14073C>A (p.Asp4691Glu) c.14058C>A (p.Asp4686Glu) c.14088C>A (p.Asp4696Glu) c.14004C>A (p.Asp4668Glu) | |
| 19 | g.38573269C= | CA2335089006 | RYR1 | c.1027C= c.2424C= c.2396C= c.14091C= (p.Asp4697=) c.14076C= (p.Asp4692=) c.14073C= (p.Asp4691=) c.14058C= (p.Asp4686=) c.14088C= (p.Asp4696=) c.14004C= (p.Asp4668=) | |
| 19 | g.38573269C>G | CA405682480 | RYR1 | c.1027C>G c.2424C>G c.2396C>G c.14091C>G (p.Asp4697Glu) c.14076C>G (p.Asp4692Glu) c.14073C>G (p.Asp4691Glu) c.14058C>G (p.Asp4686Glu) c.14088C>G (p.Asp4696Glu) c.14004C>G (p.Asp4668Glu) | gnomAD v4 |
| 19 | g.38573269C>T | CA060804 | RYR1 | c.1027C>T c.2424C>T c.2396C>T c.14091C>T (p.Asp4697=) c.14076C>T (p.Asp4692=) c.14073C>T (p.Asp4691=) c.14058C>T (p.Asp4686=) c.14088C>T (p.Asp4696=) c.14004C>T (p.Asp4668=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38573270G>A | CA308114758 | RYR1 | c.1028G>A c.2425G>A c.2397G>A c.14092G>A (p.Val4698Met) c.14077G>A (p.Val4693Met) c.14074G>A (p.Val4692Met) c.14059G>A (p.Val4687Met) c.14089G>A (p.Val4697Met) c.14005G>A (p.Val4669Met) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.38573270G>C | CA060807 | RYR1 | c.1028G>C c.2425G>C c.2397G>C c.14092G>C (p.Val4698Leu) c.14077G>C (p.Val4693Leu) c.14074G>C (p.Val4692Leu) c.14059G>C (p.Val4687Leu) c.14089G>C (p.Val4697Leu) c.14005G>C (p.Val4669Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38573270G= | CA2335089007 | RYR1 | c.1028G= c.2425G= c.2397G= c.14092G= (p.Val4698=) c.14077G= (p.Val4693=) c.14074G= (p.Val4692=) c.14059G= (p.Val4687=) c.14089G= (p.Val4697=) c.14005G= (p.Val4669=) | |
| 19 | g.38573270G>T | CA405682486 | RYR1 | c.1028G>T c.2425G>T c.2397G>T c.14092G>T (p.Val4698Leu) c.14077G>T (p.Val4693Leu) c.14074G>T (p.Val4692Leu) c.14059G>T (p.Val4687Leu) c.14089G>T (p.Val4697Leu) c.14005G>T (p.Val4669Leu) | COSMIC |
| 19 | g.38573271T>A | CA405682489 | RYR1 | c.1029T>A c.2426T>A c.2398T>A c.14093T>A (p.Val4698Glu) c.14078T>A (p.Val4693Glu) c.14075T>A (p.Val4692Glu) c.14060T>A (p.Val4687Glu) c.14090T>A (p.Val4697Glu) c.14006T>A (p.Val4669Glu) | |
| 19 | g.38573271T>C | CA405682490 | RYR1 | c.1029T>C c.2426T>C c.2398T>C c.14093T>C (p.Val4698Ala) c.14078T>C (p.Val4693Ala) c.14075T>C (p.Val4692Ala) c.14060T>C (p.Val4687Ala) c.14090T>C (p.Val4697Ala) c.14006T>C (p.Val4669Ala) | |
| 19 | g.38573271T>G | CA405682491 | RYR1 | c.1029T>G c.2426T>G c.2398T>G c.14093T>G (p.Val4698Gly) c.14078T>G (p.Val4693Gly) c.14075T>G (p.Val4692Gly) c.14060T>G (p.Val4687Gly) c.14090T>G (p.Val4697Gly) c.14006T>G (p.Val4669Gly) | |
| 19 | g.38573272G>A | CA507245173 | RYR1 | c.1030G>A c.2427G>A c.2399G>A c.14094G>A (p.Val4698=) c.14079G>A (p.Val4693=) c.14076G>A (p.Val4692=) c.14061G>A (p.Val4687=) c.14091G>A (p.Val4697=) c.14007G>A (p.Val4669=) | |
| 19 | g.38573272G>C | CA507245174 | RYR1 | c.1030G>C c.2427G>C c.2399G>C c.14094G>C (p.Val4698=) c.14079G>C (p.Val4693=) c.14076G>C (p.Val4692=) c.14061G>C (p.Val4687=) c.14091G>C (p.Val4697=) c.14007G>C (p.Val4669=) | ClinVar dbSNP |
| 19 | g.38573272G= | CA2335089008 | RYR1 | c.1030G= c.2427G= c.2399G= c.14094G= (p.Val4698=) c.14079G= (p.Val4693=) c.14076G= (p.Val4692=) c.14061G= (p.Val4687=) c.14091G= (p.Val4697=) c.14007G= (p.Val4669=) | |
| 19 | g.38573272G>T | CA507245175 | RYR1 | c.1030G>T c.2427G>T c.2399G>T c.14094G>T (p.Val4698=) c.14079G>T (p.Val4693=) c.14076G>T (p.Val4692=) c.14061G>T (p.Val4687=) c.14091G>T (p.Val4697=) c.14007G>T (p.Val4669=) | |
| 19 | g.38573273A>C | CA405682494 | RYR1 | c.1031A>C c.2428A>C c.2400A>C c.14095A>C (p.Lys4699Gln) c.14080A>C (p.Lys4694Gln) c.14077A>C (p.Lys4693Gln) c.14062A>C (p.Lys4688Gln) c.14092A>C (p.Lys4698Gln) c.14008A>C (p.Lys4670Gln) | |
| 19 | g.38573273A>G | CA405682496 | RYR1 | c.1031A>G c.2428A>G c.2400A>G c.14095A>G (p.Lys4699Glu) c.14080A>G (p.Lys4694Glu) c.14077A>G (p.Lys4693Glu) c.14062A>G (p.Lys4688Glu) c.14092A>G (p.Lys4698Glu) c.14008A>G (p.Lys4670Glu) | |
| 19 | g.38573273A>T | CA405682497 | RYR1 | c.1031A>T c.2428A>T c.2400A>T c.14095A>T (p.Lys4699Ter) c.14080A>T (p.Lys4694Ter) c.14077A>T (p.Lys4693Ter) c.14062A>T (p.Lys4688Ter) c.14092A>T (p.Lys4698Ter) c.14008A>T (p.Lys4670Ter) | |
| 19 | g.38573274A= | CA2335089009 | RYR1 | c.1032A= c.2429A= c.2401A= c.14096A= (p.Lys4699=) c.14081A= (p.Lys4694=) c.14078A= (p.Lys4693=) c.14063A= (p.Lys4688=) c.14093A= (p.Lys4698=) c.14009A= (p.Lys4670=) | |
| 19 | g.38573274A>C | CA405682503 | RYR1 | c.1032A>C c.2429A>C c.2401A>C c.14096A>C (p.Lys4699Thr) c.14081A>C (p.Lys4694Thr) c.14078A>C (p.Lys4693Thr) c.14063A>C (p.Lys4688Thr) c.14093A>C (p.Lys4698Thr) c.14009A>C (p.Lys4670Thr) | |
| 19 | g.38573274A>G | CA405682499 | RYR1 | c.1032A>G c.2429A>G c.2401A>G c.14096A>G (p.Lys4699Arg) c.14081A>G (p.Lys4694Arg) c.14078A>G (p.Lys4693Arg) c.14063A>G (p.Lys4688Arg) c.14093A>G (p.Lys4698Arg) c.14009A>G (p.Lys4670Arg) | |
| 19 | g.38573274A>T | CA405682501 | RYR1 | c.1032A>T c.2429A>T c.2401A>T c.14096A>T (p.Lys4699Met) c.14081A>T (p.Lys4694Met) c.14078A>T (p.Lys4693Met) c.14063A>T (p.Lys4688Met) c.14093A>T (p.Lys4698Met) c.14009A>T (p.Lys4670Met) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38573275G>A | CA507245176 | RYR1 | c.1033G>A c.2430G>A c.2402G>A c.14097G>A (p.Lys4699=) c.14082G>A (p.Lys4694=) c.14079G>A (p.Lys4693=) c.14064G>A (p.Lys4688=) c.14094G>A (p.Lys4698=) c.14010G>A (p.Lys4670=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38573275G>C | CA405682504 | RYR1 | c.1033G>C c.2430G>C c.2402G>C c.14097G>C (p.Lys4699Asn) c.14082G>C (p.Lys4694Asn) c.14079G>C (p.Lys4693Asn) c.14064G>C (p.Lys4688Asn) c.14094G>C (p.Lys4698Asn) c.14010G>C (p.Lys4670Asn) | gnomAD v4 |
| 19 | g.38573275G= | CA2335089010 | RYR1 | c.1033G= c.2430G= c.2402G= c.14097G= (p.Lys4699=) c.14082G= (p.Lys4694=) c.14079G= (p.Lys4693=) c.14064G= (p.Lys4688=) c.14094G= (p.Lys4698=) c.14010G= (p.Lys4670=) | |
| 19 | g.38573275G>T | CA405682505 | RYR1 | c.1033G>T c.2430G>T c.2402G>T c.14097G>T (p.Lys4699Asn) c.14082G>T (p.Lys4694Asn) c.14079G>T (p.Lys4693Asn) c.14064G>T (p.Lys4688Asn) c.14094G>T (p.Lys4698Asn) c.14010G>T (p.Lys4670Asn) | gnomAD v4 |
| 19 | g.38573276G>A | CA405682506 | RYR1 | c.1034G>A c.2431G>A c.2403G>A c.14098G>A (p.Gly4700Arg) c.14083G>A (p.Gly4695Arg) c.14080G>A (p.Gly4694Arg) c.14065G>A (p.Gly4689Arg) c.14095G>A (p.Gly4699Arg) c.14011G>A (p.Gly4671Arg) | gnomAD v4 |
| 19 | g.38573276G>C | CA405682507 | RYR1 | c.1034G>C c.2431G>C c.2403G>C c.14098G>C (p.Gly4700Arg) c.14083G>C (p.Gly4695Arg) c.14080G>C (p.Gly4694Arg) c.14065G>C (p.Gly4689Arg) c.14095G>C (p.Gly4699Arg) c.14011G>C (p.Gly4671Arg) | |
| 19 | g.38573276G>T | CA405682508 | RYR1 | c.1034G>T c.2431G>T c.2403G>T c.14098G>T (p.Gly4700Trp) c.14083G>T (p.Gly4695Trp) c.14080G>T (p.Gly4694Trp) c.14065G>T (p.Gly4689Trp) c.14095G>T (p.Gly4699Trp) c.14011G>T (p.Gly4671Trp) | |
| 19 | g.38573277G>A | CA405682509 | RYR1 | c.1035G>A c.2432G>A c.2404G>A c.14099G>A (p.Gly4700Glu) c.14084G>A (p.Gly4695Glu) c.14081G>A (p.Gly4694Glu) c.14066G>A (p.Gly4689Glu) c.14096G>A (p.Gly4699Glu) c.14012G>A (p.Gly4671Glu) | dbSNP |
| 19 | g.38573277G>C | CA405682511 | RYR1 | c.1035G>C c.2432G>C c.2404G>C c.14099G>C (p.Gly4700Ala) c.14084G>C (p.Gly4695Ala) c.14081G>C (p.Gly4694Ala) c.14066G>C (p.Gly4689Ala) c.14096G>C (p.Gly4699Ala) c.14012G>C (p.Gly4671Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38573277G= | CA2335089011 | RYR1 | c.1035G= c.2432G= c.2404G= c.14099G= (p.Gly4700=) c.14084G= (p.Gly4695=) c.14081G= (p.Gly4694=) c.14066G= (p.Gly4689=) c.14096G= (p.Gly4699=) c.14012G= (p.Gly4671=) | |
| 19 | g.38573277G>T | CA405682513 | RYR1 | c.1035G>T c.2432G>T c.2404G>T c.14099G>T (p.Gly4700Val) c.14084G>T (p.Gly4695Val) c.14081G>T (p.Gly4694Val) c.14066G>T (p.Gly4689Val) c.14096G>T (p.Gly4699Val) c.14012G>T (p.Gly4671Val) | |
| 19 | g.38573278G>A | CA507245177 | RYR1 | c.1036G>A c.2433G>A c.2405G>A c.14100G>A (p.Gly4700=) c.14085G>A (p.Gly4695=) c.14082G>A (p.Gly4694=) c.14067G>A (p.Gly4689=) c.14097G>A (p.Gly4699=) c.14013G>A (p.Gly4671=) | gnomAD v4 |
| 19 | g.38573278G>C | CA507245178 | RYR1 | c.1036G>C c.2433G>C c.2405G>C c.14100G>C (p.Gly4700=) c.14085G>C (p.Gly4695=) c.14082G>C (p.Gly4694=) c.14067G>C (p.Gly4689=) c.14097G>C (p.Gly4699=) c.14013G>C (p.Gly4671=) | |
| 19 | g.38573278G= | CA2335089012 | RYR1 | c.1036G= c.2433G= c.2405G= c.14100G= (p.Gly4700=) c.14085G= (p.Gly4695=) c.14082G= (p.Gly4694=) c.14067G= (p.Gly4689=) c.14097G= (p.Gly4699=) c.14013G= (p.Gly4671=) | |
| 19 | g.38573278G>T | CA507245179 | RYR1 | c.1036G>T c.2433G>T c.2405G>T c.14100G>T (p.Gly4700=) c.14085G>T (p.Gly4695=) c.14082G>T (p.Gly4694=) c.14067G>T (p.Gly4689=) c.14097G>T (p.Gly4699=) c.14013G>T (p.Gly4671=) | dbSNP gnomAD v4 |
| 19 | g.38573279C>A | CA405682515 | RYR1 | c.1037C>A c.2434C>A c.2406C>A c.14101C>A (p.Gln4701Lys) c.14086C>A (p.Gln4696Lys) c.14083C>A (p.Gln4695Lys) c.14068C>A (p.Gln4690Lys) c.14098C>A (p.Gln4700Lys) c.14014C>A (p.Gln4672Lys) | |
| 19 | g.38573279C>G | CA405682516 | RYR1 | c.1037C>G c.2434C>G c.2406C>G c.14101C>G (p.Gln4701Glu) c.14086C>G (p.Gln4696Glu) c.14083C>G (p.Gln4695Glu) c.14068C>G (p.Gln4690Glu) c.14098C>G (p.Gln4700Glu) c.14014C>G (p.Gln4672Glu) | |
| 19 | g.38573279C>T | CA405682518 | RYR1 | c.1037C>T c.2434C>T c.2406C>T c.14101C>T (p.Gln4701Ter) c.14086C>T (p.Gln4696Ter) c.14083C>T (p.Gln4695Ter) c.14068C>T (p.Gln4690Ter) c.14098C>T (p.Gln4700Ter) c.14014C>T (p.Gln4672Ter) | |
| 19 | g.38573280A= | CA2335089013 | RYR1 | c.1038A= c.2435A= c.2407A= c.14102A= (p.Gln4701=) c.14087A= (p.Gln4696=) c.14084A= (p.Gln4695=) c.14069A= (p.Gln4690=) c.14099A= (p.Gln4700=) c.14015A= (p.Gln4672=) | |
| 19 | g.38573280A>C | CA405682524 | RYR1 | c.1038A>C c.2435A>C c.2407A>C c.14102A>C (p.Gln4701Pro) c.14087A>C (p.Gln4696Pro) c.14084A>C (p.Gln4695Pro) c.14069A>C (p.Gln4690Pro) c.14099A>C (p.Gln4700Pro) c.14015A>C (p.Gln4672Pro) | dbSNP gnomAD v4 |
| 19 | g.38573280A>G | CA405682522 | RYR1 | c.1038A>G c.2435A>G c.2407A>G c.14102A>G (p.Gln4701Arg) c.14087A>G (p.Gln4696Arg) c.14084A>G (p.Gln4695Arg) c.14069A>G (p.Gln4690Arg) c.14099A>G (p.Gln4700Arg) c.14015A>G (p.Gln4672Arg) | |
| 19 | g.38573280A>T | CA405682520 | RYR1 | c.1038A>T c.2435A>T c.2407A>T c.14102A>T (p.Gln4701Leu) c.14087A>T (p.Gln4696Leu) c.14084A>T (p.Gln4695Leu) c.14069A>T (p.Gln4690Leu) c.14099A>T (p.Gln4700Leu) c.14015A>T (p.Gln4672Leu) | gnomAD v4 |
| 19 | g.38573281G>A | CA308114761 | RYR1 | c.1039G>A c.2436G>A c.2408G>A c.14103G>A (p.Gln4701=) c.14088G>A (p.Gln4696=) c.14085G>A (p.Gln4695=) c.14070G>A (p.Gln4690=) c.14100G>A (p.Gln4700=) c.14016G>A (p.Gln4672=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38573281G>C | CA405682527 | RYR1 | c.1039G>C c.2436G>C c.2408G>C c.14103G>C (p.Gln4701His) c.14088G>C (p.Gln4696His) c.14085G>C (p.Gln4695His) c.14070G>C (p.Gln4690His) c.14100G>C (p.Gln4700His) c.14016G>C (p.Gln4672His) | COSMIC |
| 19 | g.38573281G= | CA2335089014 | RYR1 | c.1039G= c.2436G= c.2408G= c.14103G= (p.Gln4701=) c.14088G= (p.Gln4696=) c.14085G= (p.Gln4695=) c.14070G= (p.Gln4690=) c.14100G= (p.Gln4700=) c.14016G= (p.Gln4672=) | |
| 19 | g.38573281G>T | CA405682528 | RYR1 | c.1039G>T c.2436G>T c.2408G>T c.14103G>T (p.Gln4701His) c.14088G>T (p.Gln4696His) c.14085G>T (p.Gln4695His) c.14070G>T (p.Gln4690His) c.14100G>T (p.Gln4700His) c.14016G>T (p.Gln4672His) | |
| 19 | g.38573282T>A | CA405682529 | RYR1 | c.1040T>A c.2437T>A c.2409T>A c.14104T>A (p.Trp4702Arg) c.14089T>A (p.Trp4697Arg) c.14086T>A (p.Trp4696Arg) c.14071T>A (p.Trp4691Arg) c.14101T>A (p.Trp4701Arg) c.14017T>A (p.Trp4673Arg) | |
| 19 | g.38573282T>C | CA405682530 | RYR1 | c.1040T>C c.2437T>C c.2409T>C c.14104T>C (p.Trp4702Arg) c.14089T>C (p.Trp4697Arg) c.14086T>C (p.Trp4696Arg) c.14071T>C (p.Trp4691Arg) c.14101T>C (p.Trp4701Arg) c.14017T>C (p.Trp4673Arg) | ClinVar dbSNP |
| 19 | g.38573282T>G | CA405682531 | RYR1 | c.1040T>G c.2437T>G c.2409T>G c.14104T>G (p.Trp4702Gly) c.14089T>G (p.Trp4697Gly) c.14086T>G (p.Trp4696Gly) c.14071T>G (p.Trp4691Gly) c.14101T>G (p.Trp4701Gly) c.14017T>G (p.Trp4673Gly) | |
| 19 | g.38573283G>A | CA405682533 | RYR1 | c.1041G>A c.2438G>A c.2410G>A c.14105G>A (p.Trp4702Ter) c.14090G>A (p.Trp4697Ter) c.14087G>A (p.Trp4696Ter) c.14072G>A (p.Trp4691Ter) c.14102G>A (p.Trp4701Ter) c.14018G>A (p.Trp4673Ter) | |
| 19 | g.38573283G>C | CA405682535 | RYR1 | c.1041G>C c.2438G>C c.2410G>C c.14105G>C (p.Trp4702Ser) c.14090G>C (p.Trp4697Ser) c.14087G>C (p.Trp4696Ser) c.14072G>C (p.Trp4691Ser) c.14102G>C (p.Trp4701Ser) c.14018G>C (p.Trp4673Ser) | |
| 19 | g.38573283G>T | CA405682536 | RYR1 | c.1041G>T c.2438G>T c.2410G>T c.14105G>T (p.Trp4702Leu) c.14090G>T (p.Trp4697Leu) c.14087G>T (p.Trp4696Leu) c.14072G>T (p.Trp4691Leu) c.14102G>T (p.Trp4701Leu) c.14018G>T (p.Trp4673Leu) | |
| 19 | g.38573284G>A | CA405682538 | RYR1 | c.1042G>A c.2439G>A c.2411G>A c.14106G>A (p.Trp4702Ter) c.14091G>A (p.Trp4697Ter) c.14088G>A (p.Trp4696Ter) c.14073G>A (p.Trp4691Ter) c.14103G>A (p.Trp4701Ter) c.14019G>A (p.Trp4673Ter) | |
| 19 | g.38573284G>C | CA308114764 | RYR1 | c.1042G>C c.2439G>C c.2411G>C c.14106G>C (p.Trp4702Cys) c.14091G>C (p.Trp4697Cys) c.14088G>C (p.Trp4696Cys) c.14073G>C (p.Trp4691Cys) c.14103G>C (p.Trp4701Cys) c.14019G>C (p.Trp4673Cys) | dbSNP gnomAD v4 |
| 19 | g.38573284G= | CA2335089015 | RYR1 | c.1042G= c.2439G= c.2411G= c.14106G= (p.Trp4702=) c.14091G= (p.Trp4697=) c.14088G= (p.Trp4696=) c.14073G= (p.Trp4691=) c.14103G= (p.Trp4701=) c.14019G= (p.Trp4673=) | |
| 19 | g.38573284G>T | CA405682544 | RYR1 | c.1042G>T c.2439G>T c.2411G>T c.14106G>T (p.Trp4702Cys) c.14091G>T (p.Trp4697Cys) c.14088G>T (p.Trp4696Cys) c.14073G>T (p.Trp4691Cys) c.14103G>T (p.Trp4701Cys) c.14019G>T (p.Trp4673Cys) | |
| 19 | g.38573285G>A | CA405682550 | RYR1 | c.1043G>A c.2440G>A c.2412G>A c.14107G>A (p.Asp4703Asn) c.14092G>A (p.Asp4698Asn) c.14089G>A (p.Asp4697Asn) c.14074G>A (p.Asp4692Asn) c.14104G>A (p.Asp4702Asn) c.14020G>A (p.Asp4674Asn) | |
| 19 | g.38573285G>C | CA405682549 | RYR1 | c.1043G>C c.2440G>C c.2412G>C c.14107G>C (p.Asp4703His) c.14092G>C (p.Asp4698His) c.14089G>C (p.Asp4697His) c.14074G>C (p.Asp4692His) c.14104G>C (p.Asp4702His) c.14020G>C (p.Asp4674His) | |
| 19 | g.38573285G>T | CA405682547 | RYR1 | c.1043G>T c.2440G>T c.2412G>T c.14107G>T (p.Asp4703Tyr) c.14092G>T (p.Asp4698Tyr) c.14089G>T (p.Asp4697Tyr) c.14074G>T (p.Asp4692Tyr) c.14104G>T (p.Asp4702Tyr) c.14020G>T (p.Asp4674Tyr) | |
| 19 | g.38573286A>C | CA405682552 | RYR1 | c.1044A>C c.2441A>C c.2413A>C c.14108A>C (p.Asp4703Ala) c.14093A>C (p.Asp4698Ala) c.14090A>C (p.Asp4697Ala) c.14075A>C (p.Asp4692Ala) c.14105A>C (p.Asp4702Ala) c.14021A>C (p.Asp4674Ala) | gnomAD v4 |
| 19 | g.38573286A>G | CA405682555 | RYR1 | c.1044A>G c.2441A>G c.2413A>G c.14108A>G (p.Asp4703Gly) c.14093A>G (p.Asp4698Gly) c.14090A>G (p.Asp4697Gly) c.14075A>G (p.Asp4692Gly) c.14105A>G (p.Asp4702Gly) c.14021A>G (p.Asp4674Gly) | |
| 19 | g.38573286A>T | CA405682558 | RYR1 | c.1044A>T c.2441A>T c.2413A>T c.14108A>T (p.Asp4703Val) c.14093A>T (p.Asp4698Val) c.14090A>T (p.Asp4697Val) c.14075A>T (p.Asp4692Val) c.14105A>T (p.Asp4702Val) c.14021A>T (p.Asp4674Val) | |
| 19 | g.38573287C>A | CA405682560 | RYR1 | c.1045C>A c.2442C>A c.2414C>A c.14109C>A (p.Asp4703Glu) c.14094C>A (p.Asp4698Glu) c.14091C>A (p.Asp4697Glu) c.14076C>A (p.Asp4692Glu) c.14106C>A (p.Asp4702Glu) c.14022C>A (p.Asp4674Glu) | |
| 19 | g.38573287C>G | CA405682562 | RYR1 | c.1045C>G c.2442C>G c.2414C>G c.14109C>G (p.Asp4703Glu) c.14094C>G (p.Asp4698Glu) c.14091C>G (p.Asp4697Glu) c.14076C>G (p.Asp4692Glu) c.14106C>G (p.Asp4702Glu) c.14022C>G (p.Asp4674Glu) | |
| 19 | g.38573287C>T | CA507245181 | RYR1 | c.1045C>T c.2442C>T c.2414C>T c.14109C>T (p.Asp4703=) c.14094C>T (p.Asp4698=) c.14091C>T (p.Asp4697=) c.14076C>T (p.Asp4692=) c.14106C>T (p.Asp4702=) c.14022C>T (p.Asp4674=) | |
| 19 | g.38573288C>A | CA507245182 | RYR1 | c.1046C>A c.2443C>A c.2415C>A c.14110C>A (p.Arg4704=) c.14095C>A (p.Arg4699=) c.14092C>A (p.Arg4698=) c.14077C>A (p.Arg4693=) c.14107C>A (p.Arg4703=) c.14023C>A (p.Arg4675=) | |
| 19 | g.38573288C= | CA2335089016 | RYR1 | c.1046C= c.2443C= c.2415C= c.14110C= (p.Arg4704=) c.14095C= (p.Arg4699=) c.14092C= (p.Arg4698=) c.14077C= (p.Arg4693=) c.14107C= (p.Arg4703=) c.14023C= (p.Arg4675=) | |
| 19 | g.38573288C>G | CA405682565 | RYR1 | c.1046C>G c.2443C>G c.2415C>G c.14110C>G (p.Arg4704Gly) c.14095C>G (p.Arg4699Gly) c.14092C>G (p.Arg4698Gly) c.14077C>G (p.Arg4693Gly) c.14107C>G (p.Arg4703Gly) c.14023C>G (p.Arg4675Gly) | |
| 19 | g.38573288C>T | CA405682568 | RYR1 | c.1046C>T c.2443C>T c.2415C>T c.14110C>T (p.Arg4704Ter) c.14095C>T (p.Arg4699Ter) c.14092C>T (p.Arg4698Ter) c.14077C>T (p.Arg4693Ter) c.14107C>T (p.Arg4703Ter) c.14023C>T (p.Arg4675Ter) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38573289G>A | CA405682571 | RYR1 | c.1047G>A c.2444G>A c.2416G>A c.14111G>A (p.Arg4704Gln) c.14096G>A (p.Arg4699Gln) c.14093G>A (p.Arg4698Gln) c.14078G>A (p.Arg4693Gln) c.14108G>A (p.Arg4703Gln) c.14024G>A (p.Arg4675Gln) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38573289G>C | CA405682572 | RYR1 | c.1047G>C c.2444G>C c.2416G>C c.14111G>C (p.Arg4704Pro) c.14096G>C (p.Arg4699Pro) c.14093G>C (p.Arg4698Pro) c.14078G>C (p.Arg4693Pro) c.14108G>C (p.Arg4703Pro) c.14024G>C (p.Arg4675Pro) | gnomAD v4 |
| 19 | g.38573289G= | CA2335089017 | RYR1 | c.1047G= c.2444G= c.2416G= c.14111G= (p.Arg4704=) c.14096G= (p.Arg4699=) c.14093G= (p.Arg4698=) c.14078G= (p.Arg4693=) c.14108G= (p.Arg4703=) c.14024G= (p.Arg4675=) | |
| 19 | g.38573289G>T | CA405682574 | RYR1 | c.1047G>T c.2444G>T c.2416G>T c.14111G>T (p.Arg4704Leu) c.14096G>T (p.Arg4699Leu) c.14093G>T (p.Arg4698Leu) c.14078G>T (p.Arg4693Leu) c.14108G>T (p.Arg4703Leu) c.14024G>T (p.Arg4675Leu) | |
| 19 | g.38573290A>C | CA507245183 | RYR1 | c.1048A>C c.2445A>C c.2417A>C c.14112A>C (p.Arg4704=) c.14097A>C (p.Arg4699=) c.14094A>C (p.Arg4698=) c.14079A>C (p.Arg4693=) c.14109A>C (p.Arg4703=) c.14025A>C (p.Arg4675=) | |
| 19 | g.38573290A>G | CA507245184 | RYR1 | c.1048A>G c.2445A>G c.2417A>G c.14112A>G (p.Arg4704=) c.14097A>G (p.Arg4699=) c.14094A>G (p.Arg4698=) c.14079A>G (p.Arg4693=) c.14109A>G (p.Arg4703=) c.14025A>G (p.Arg4675=) | |
| 19 | g.38573290A>T | CA507245185 | RYR1 | c.1048A>T c.2445A>T c.2417A>T c.14112A>T (p.Arg4704=) c.14097A>T (p.Arg4699=) c.14094A>T (p.Arg4698=) c.14079A>T (p.Arg4693=) c.14109A>T (p.Arg4703=) c.14025A>T (p.Arg4675=) | |
| 19 | g.38573291C>A | CA405682575 | RYR1 | c.1049C>A c.2446C>A c.2418C>A c.14113C>A (p.Leu4705Met) c.14098C>A (p.Leu4700Met) c.14095C>A (p.Leu4699Met) c.14080C>A (p.Leu4694Met) c.14110C>A (p.Leu4704Met) c.14026C>A (p.Leu4676Met) | |
| 19 | g.38573291C>G | CA405682576 | RYR1 | c.1049C>G c.2446C>G c.2418C>G c.14113C>G (p.Leu4705Val) c.14098C>G (p.Leu4700Val) c.14095C>G (p.Leu4699Val) c.14080C>G (p.Leu4694Val) c.14110C>G (p.Leu4704Val) c.14026C>G (p.Leu4676Val) | gnomAD v4 |
| 19 | g.38573291C>T | CA507245186 | RYR1 | c.1049C>T c.2446C>T c.2418C>T c.14113C>T (p.Leu4705=) c.14098C>T (p.Leu4700=) c.14095C>T (p.Leu4699=) c.14080C>T (p.Leu4694=) c.14110C>T (p.Leu4704=) c.14026C>T (p.Leu4676=) | ClinVar |
| 19 | g.38573292T>A | CA405682585 | RYR1 | c.1050T>A c.2447T>A c.2419T>A c.14114T>A (p.Leu4705Gln) c.14099T>A (p.Leu4700Gln) c.14096T>A (p.Leu4699Gln) c.14081T>A (p.Leu4694Gln) c.14111T>A (p.Leu4704Gln) c.14027T>A (p.Leu4676Gln) | gnomAD v4 |
| 19 | g.38573292T>C | CA405682584 | RYR1 | c.1050T>C c.2447T>C c.2419T>C c.14114T>C (p.Leu4705Pro) c.14099T>C (p.Leu4700Pro) c.14096T>C (p.Leu4699Pro) c.14081T>C (p.Leu4694Pro) c.14111T>C (p.Leu4704Pro) c.14027T>C (p.Leu4676Pro) | |
| 19 | g.38573292T>G | CA405682581 | RYR1 | c.1050T>G c.2447T>G c.2419T>G c.14114T>G (p.Leu4705Arg) c.14099T>G (p.Leu4700Arg) c.14096T>G (p.Leu4699Arg) c.14081T>G (p.Leu4694Arg) c.14111T>G (p.Leu4704Arg) c.14027T>G (p.Leu4676Arg) | |
| 19 | g.38573293G>A | CA507245188 | RYR1 | c.1051G>A c.2448G>A c.2420G>A c.14115G>A (p.Leu4705=) c.14100G>A (p.Leu4700=) c.14097G>A (p.Leu4699=) c.14082G>A (p.Leu4694=) c.14112G>A (p.Leu4704=) c.14028G>A (p.Leu4676=) | |
| 19 | g.38573293G>C | CA507245189 | RYR1 | c.1051G>C c.2448G>C c.2420G>C c.14115G>C (p.Leu4705=) c.14100G>C (p.Leu4700=) c.14097G>C (p.Leu4699=) c.14082G>C (p.Leu4694=) c.14112G>C (p.Leu4704=) c.14028G>C (p.Leu4676=) | |
| 19 | g.38573293G>T | CA507245190 | RYR1 | c.1051G>T c.2448G>T c.2420G>T c.14115G>T (p.Leu4705=) c.14100G>T (p.Leu4700=) c.14097G>T (p.Leu4699=) c.14082G>T (p.Leu4694=) c.14112G>T (p.Leu4704=) c.14028G>T (p.Leu4676=) | |
| 19 | g.38573294G>A | CA405682586 | RYR1 | c.1052G>A c.2449G>A c.2421G>A c.14116G>A (p.Val4706Met) c.14101G>A (p.Val4701Met) c.14098G>A (p.Val4700Met) c.14083G>A (p.Val4695Met) c.14113G>A (p.Val4705Met) c.14029G>A (p.Val4677Met) | gnomAD v4 |
| 19 | g.38573294G>C | CA405682588 | RYR1 | c.1052G>C c.2449G>C c.2421G>C c.14116G>C (p.Val4706Leu) c.14101G>C (p.Val4701Leu) c.14098G>C (p.Val4700Leu) c.14083G>C (p.Val4695Leu) c.14113G>C (p.Val4705Leu) c.14029G>C (p.Val4677Leu) | |
| 19 | g.38573294G>T | CA405682587 | RYR1 | c.1052G>T c.2449G>T c.2421G>T c.14116G>T (p.Val4706Leu) c.14101G>T (p.Val4701Leu) c.14098G>T (p.Val4700Leu) c.14083G>T (p.Val4695Leu) c.14113G>T (p.Val4705Leu) c.14029G>T (p.Val4677Leu) | |
| 19 | g.38573295T>A | CA405682589 | RYR1 | c.1053T>A c.2450T>A c.2422T>A c.14117T>A (p.Val4706Glu) c.14102T>A (p.Val4701Glu) c.14099T>A (p.Val4700Glu) c.14084T>A (p.Val4695Glu) c.14114T>A (p.Val4705Glu) c.14030T>A (p.Val4677Glu) | |
| 19 | g.38573295T>C | CA405682594 | RYR1 | c.1053T>C c.2450T>C c.2422T>C c.14117T>C (p.Val4706Ala) c.14102T>C (p.Val4701Ala) c.14099T>C (p.Val4700Ala) c.14084T>C (p.Val4695Ala) c.14114T>C (p.Val4705Ala) c.14030T>C (p.Val4677Ala) | gnomAD v4 |
| 19 | g.38573295T>G | CA405682591 | RYR1 | c.1053T>G c.2450T>G c.2422T>G c.14117T>G (p.Val4706Gly) c.14102T>G (p.Val4701Gly) c.14099T>G (p.Val4700Gly) c.14084T>G (p.Val4695Gly) c.14114T>G (p.Val4705Gly) c.14030T>G (p.Val4677Gly) | |
| 19 | g.38573296G>A | CA507245193 | RYR1 | c.1054G>A c.2451G>A c.2423G>A c.14118G>A (p.Val4706=) c.14103G>A (p.Val4701=) c.14100G>A (p.Val4700=) c.14085G>A (p.Val4695=) c.14115G>A (p.Val4705=) c.14031G>A (p.Val4677=) | |
| 19 | g.38573296G>C | CA507245194 | RYR1 | c.1054G>C c.2451G>C c.2423G>C c.14118G>C (p.Val4706=) c.14103G>C (p.Val4701=) c.14100G>C (p.Val4700=) c.14085G>C (p.Val4695=) c.14115G>C (p.Val4705=) c.14031G>C (p.Val4677=) | |
| 19 | g.38573296G>T | CA507245192 | RYR1 | c.1054G>T c.2451G>T c.2423G>T c.14118G>T (p.Val4706=) c.14103G>T (p.Val4701=) c.14100G>T (p.Val4700=) c.14085G>T (p.Val4695=) c.14115G>T (p.Val4705=) c.14031G>T (p.Val4677=) | |
| 19 | g.38573296_38573320delinsGCTCAACACGCCGTAAGGACCCAGC | CA2335089018 | RYR1 | c.1054_1065+13delinsGCTCAACACGCCGTAAGGACCCAGC c.2451_2462+13delinsGCTCAACACGCCGTAAGGACCCAGC c.2423_2434+13delinsGCTCAACACGCCGTAAGGACCCAGC c.14118_14129+13delinsGCTCAACACGCCGTAAGGACCCAGC c.14103_14114+13delinsGCTCAACACGCCGTAAGGACCCAGC c.14100_14111+13delinsGCTCAACACGCCGTAAGGACCCAGC c.14085_14096+13delinsGCTCAACACGCCGTAAGGACCCAGC c.14115_14126+13delinsGCTCAACACGCCGTAAGGACCCAGC c.14031_14042+13delinsGCTCAACACGCCGTAAGGACCCAGC | |
| 19 | g.38573297C>A | CA405682596 | RYR1 | c.1055C>A c.2452C>A c.2424C>A c.14119C>A (p.Leu4707Ile) c.14104C>A (p.Leu4702Ile) c.14101C>A (p.Leu4701Ile) c.14086C>A (p.Leu4696Ile) c.14116C>A (p.Leu4706Ile) c.14032C>A (p.Leu4678Ile) | |
| 19 | g.38573297C>G | CA405682599 | RYR1 | c.1055C>G c.2452C>G c.2424C>G c.14119C>G (p.Leu4707Val) c.14104C>G (p.Leu4702Val) c.14101C>G (p.Leu4701Val) c.14086C>G (p.Leu4696Val) c.14116C>G (p.Leu4706Val) c.14032C>G (p.Leu4678Val) | |
| 19 | g.38573297C>T | CA405682600 | RYR1 | c.1055C>T c.2452C>T c.2424C>T c.14119C>T (p.Leu4707Phe) c.14104C>T (p.Leu4702Phe) c.14101C>T (p.Leu4701Phe) c.14086C>T (p.Leu4696Phe) c.14116C>T (p.Leu4706Phe) c.14032C>T (p.Leu4678Phe) | gnomAD v4 |
| 19 | g.38573298_38573321del | CA9415949 | RYR1 | c.1056_1065+14del c.2453_2462+14del c.2425_2434+14del c.14120_14129+14del c.14105_14114+14del c.14102_14111+14del c.14087_14096+14del c.14117_14126+14del c.14033_14042+14del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38573298T>A | CA405682614 | RYR1 | c.1056T>A c.2453T>A c.2425T>A c.14120T>A (p.Leu4707His) c.14105T>A (p.Leu4702His) c.14102T>A (p.Leu4701His) c.14087T>A (p.Leu4696His) c.14117T>A (p.Leu4706His) c.14033T>A (p.Leu4678His) | |
| 19 | g.38573298T>C | CA405682605 | RYR1 | c.1056T>C c.2453T>C c.2425T>C c.14120T>C (p.Leu4707Pro) c.14105T>C (p.Leu4702Pro) c.14102T>C (p.Leu4701Pro) c.14087T>C (p.Leu4696Pro) c.14117T>C (p.Leu4706Pro) c.14033T>C (p.Leu4678Pro) | |
| 19 | g.38573298T>G | CA405682611 | RYR1 | c.1056T>G c.2453T>G c.2425T>G c.14120T>G (p.Leu4707Arg) c.14105T>G (p.Leu4702Arg) c.14102T>G (p.Leu4701Arg) c.14087T>G (p.Leu4696Arg) c.14117T>G (p.Leu4706Arg) c.14033T>G (p.Leu4678Arg) | |
| 19 | g.38573299C>A | CA507245196 | RYR1 | c.1057C>A c.2454C>A c.2426C>A c.14121C>A (p.Leu4707=) c.14106C>A (p.Leu4702=) c.14103C>A (p.Leu4701=) c.14088C>A (p.Leu4696=) c.14118C>A (p.Leu4706=) c.14034C>A (p.Leu4678=) | |
| 19 | g.38573299C>G | CA507245197 | RYR1 | c.1057C>G c.2454C>G c.2426C>G c.14121C>G (p.Leu4707=) c.14106C>G (p.Leu4702=) c.14103C>G (p.Leu4701=) c.14088C>G (p.Leu4696=) c.14118C>G (p.Leu4706=) c.14034C>G (p.Leu4678=) | |
| 19 | g.38573299C>T | CA507245198 | RYR1 | c.1057C>T c.2454C>T c.2426C>T c.14121C>T (p.Leu4707=) c.14106C>T (p.Leu4702=) c.14103C>T (p.Leu4701=) c.14088C>T (p.Leu4696=) c.14118C>T (p.Leu4706=) c.14034C>T (p.Leu4678=) | gnomAD v4 |
| 19 | g.38573300A>C | CA405682617 | RYR1 | c.1058A>C c.2455A>C c.2427A>C c.14122A>C (p.Asn4708His) c.14107A>C (p.Asn4703His) c.14104A>C (p.Asn4702His) c.14089A>C (p.Asn4697His) c.14119A>C (p.Asn4707His) c.14035A>C (p.Asn4679His) | |
| 19 | g.38573300A>G | CA405682618 | RYR1 | c.1058A>G c.2455A>G c.2427A>G c.14122A>G (p.Asn4708Asp) c.14107A>G (p.Asn4703Asp) c.14104A>G (p.Asn4702Asp) c.14089A>G (p.Asn4697Asp) c.14119A>G (p.Asn4707Asp) c.14035A>G (p.Asn4679Asp) | |
| 19 | g.38573300A>T | CA405682620 | RYR1 | c.1058A>T c.2455A>T c.2427A>T c.14122A>T (p.Asn4708Tyr) c.14107A>T (p.Asn4703Tyr) c.14104A>T (p.Asn4702Tyr) c.14089A>T (p.Asn4697Tyr) c.14119A>T (p.Asn4707Tyr) c.14035A>T (p.Asn4679Tyr) | |
| 19 | g.38573301A= | CA2335089019 | RYR1 | c.1059A= c.2456A= c.2428A= c.14123A= (p.Asn4708=) c.14108A= (p.Asn4703=) c.14105A= (p.Asn4702=) c.14090A= (p.Asn4697=) c.14120A= (p.Asn4707=) c.14036A= (p.Asn4679=) | |
| 19 | g.38573301A>C | CA405682622 | RYR1 | c.1059A>C c.2456A>C c.2428A>C c.14123A>C (p.Asn4708Thr) c.14108A>C (p.Asn4703Thr) c.14105A>C (p.Asn4702Thr) c.14090A>C (p.Asn4697Thr) c.14120A>C (p.Asn4707Thr) c.14036A>C (p.Asn4679Thr) | |
| 19 | g.38573301A>G | CA405682624 | RYR1 | c.1059A>G c.2456A>G c.2428A>G c.14123A>G (p.Asn4708Ser) c.14108A>G (p.Asn4703Ser) c.14105A>G (p.Asn4702Ser) c.14090A>G (p.Asn4697Ser) c.14120A>G (p.Asn4707Ser) c.14036A>G (p.Asn4679Ser) | dbSNP gnomAD v4 |
| 19 | g.38573301A>T | CA405682625 | RYR1 | c.1059A>T c.2456A>T c.2428A>T c.14123A>T (p.Asn4708Ile) c.14108A>T (p.Asn4703Ile) c.14105A>T (p.Asn4702Ile) c.14090A>T (p.Asn4697Ile) c.14120A>T (p.Asn4707Ile) c.14036A>T (p.Asn4679Ile) | |
| 19 | g.38573302C>A | CA405682629 | RYR1 | c.1060C>A c.2457C>A c.2429C>A c.14124C>A (p.Asn4708Lys) c.14109C>A (p.Asn4703Lys) c.14106C>A (p.Asn4702Lys) c.14091C>A (p.Asn4697Lys) c.14121C>A (p.Asn4707Lys) c.14037C>A (p.Asn4679Lys) | |
| 19 | g.38573302C>G | CA405682631 | RYR1 | c.1060C>G c.2457C>G c.2429C>G c.14124C>G (p.Asn4708Lys) c.14109C>G (p.Asn4703Lys) c.14106C>G (p.Asn4702Lys) c.14091C>G (p.Asn4697Lys) c.14121C>G (p.Asn4707Lys) c.14037C>G (p.Asn4679Lys) | |
| 19 | g.38573302C>T | CA507245202 | RYR1 | c.1060C>T c.2457C>T c.2429C>T c.14124C>T (p.Asn4708=) c.14109C>T (p.Asn4703=) c.14106C>T (p.Asn4702=) c.14091C>T (p.Asn4697=) c.14121C>T (p.Asn4707=) c.14037C>T (p.Asn4679=) | ClinVar gnomAD v4 |
| 19 | g.38573303A>C | CA405682632 | RYR1 | c.1061A>C c.2458A>C c.2430A>C c.14125A>C (p.Thr4709Pro) c.14110A>C (p.Thr4704Pro) c.14107A>C (p.Thr4703Pro) c.14092A>C (p.Thr4698Pro) c.14122A>C (p.Thr4708Pro) c.14038A>C (p.Thr4680Pro) | |
| 19 | g.38573303A>G | CA405682634 | RYR1 | c.1061A>G c.2458A>G c.2430A>G c.14125A>G (p.Thr4709Ala) c.14110A>G (p.Thr4704Ala) c.14107A>G (p.Thr4703Ala) c.14092A>G (p.Thr4698Ala) c.14122A>G (p.Thr4708Ala) c.14038A>G (p.Thr4680Ala) | |
| 19 | g.38573303A>T | CA405682637 | RYR1 | c.1061A>T c.2458A>T c.2430A>T c.14125A>T (p.Thr4709Ser) c.14110A>T (p.Thr4704Ser) c.14107A>T (p.Thr4703Ser) c.14092A>T (p.Thr4698Ser) c.14122A>T (p.Thr4708Ser) c.14038A>T (p.Thr4680Ser) | |
| 19 | g.38573304C>A | CA405682639 | RYR1 | c.1062C>A c.2459C>A c.2431C>A c.14126C>A (p.Thr4709Lys) c.14111C>A (p.Thr4704Lys) c.14108C>A (p.Thr4703Lys) c.14093C>A (p.Thr4698Lys) c.14123C>A (p.Thr4708Lys) c.14039C>A (p.Thr4680Lys) | |
| 19 | g.38573304C= | CA2335089020 | RYR1 | c.1062C= c.2459C= c.2431C= c.14126C= (p.Thr4709=) c.14111C= (p.Thr4704=) c.14108C= (p.Thr4703=) c.14093C= (p.Thr4698=) c.14123C= (p.Thr4708=) c.14039C= (p.Thr4680=) | |
| 19 | g.38573304C>G | CA405682643 | RYR1 | c.1062C>G c.2459C>G c.2431C>G c.14126C>G (p.Thr4709Arg) c.14111C>G (p.Thr4704Arg) c.14108C>G (p.Thr4703Arg) c.14093C>G (p.Thr4698Arg) c.14123C>G (p.Thr4708Arg) c.14039C>G (p.Thr4680Arg) | ClinVar |
| 19 | g.38573304C>T | CA024104 | RYR1 | c.1062C>T c.2459C>T c.2431C>T c.14126C>T (p.Thr4709Met) c.14111C>T (p.Thr4704Met) c.14108C>T (p.Thr4703Met) c.14093C>T (p.Thr4698Met) c.14123C>T (p.Thr4708Met) c.14039C>T (p.Thr4680Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38573305G>A | CA308114796 | RYR1 | c.1063G>A c.2460G>A c.2432G>A c.14127G>A (p.Thr4709=) c.14112G>A (p.Thr4704=) c.14109G>A (p.Thr4703=) c.14094G>A (p.Thr4698=) c.14124G>A (p.Thr4708=) c.14040G>A (p.Thr4680=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38573305G>C | CA507245203 | RYR1 | c.1063G>C c.2460G>C c.2432G>C c.14127G>C (p.Thr4709=) c.14112G>C (p.Thr4704=) c.14109G>C (p.Thr4703=) c.14094G>C (p.Thr4698=) c.14124G>C (p.Thr4708=) c.14040G>C (p.Thr4680=) | |
| 19 | g.38573305G= | CA2335089021 | RYR1 | c.1063G= c.2460G= c.2432G= c.14127G= (p.Thr4709=) c.14112G= (p.Thr4704=) c.14109G= (p.Thr4703=) c.14094G= (p.Thr4698=) c.14124G= (p.Thr4708=) c.14040G= (p.Thr4680=) | |
| 19 | g.38573305G>T | CA507245204 | RYR1 | c.1063G>T c.2460G>T c.2432G>T c.14127G>T (p.Thr4709=) c.14112G>T (p.Thr4704=) c.14109G>T (p.Thr4703=) c.14094G>T (p.Thr4698=) c.14124G>T (p.Thr4708=) c.14040G>T (p.Thr4680=) | gnomAD v4 |
| 19 | g.38573306C>A | CA405682645 | RYR1 | c.1064C>A c.2461C>A c.2433C>A c.14128C>A (p.Pro4710Thr) c.14113C>A (p.Pro4705Thr) c.14110C>A (p.Pro4704Thr) c.14095C>A (p.Pro4699Thr) c.14125C>A (p.Pro4709Thr) c.14041C>A (p.Pro4681Thr) | |
| 19 | g.38573306C>G | CA405682647 | RYR1 | c.1064C>G c.2461C>G c.2433C>G c.14128C>G (p.Pro4710Ala) c.14113C>G (p.Pro4705Ala) c.14110C>G (p.Pro4704Ala) c.14095C>G (p.Pro4699Ala) c.14125C>G (p.Pro4709Ala) c.14041C>G (p.Pro4681Ala) | gnomAD v4 |
| 19 | g.38573306C>T | CA405682649 | RYR1 | c.1064C>T c.2461C>T c.2433C>T c.14128C>T (p.Pro4710Ser) c.14113C>T (p.Pro4705Ser) c.14110C>T (p.Pro4704Ser) c.14095C>T (p.Pro4699Ser) c.14125C>T (p.Pro4709Ser) c.14041C>T (p.Pro4681Ser) | |
| 19 | g.38573307C>A | CA405682656 | RYR1 | c.1065C>A c.2462C>A c.2434C>A c.14129C>A (p.Pro4710Gln) c.14114C>A (p.Pro4705Gln) c.14111C>A (p.Pro4704Gln) c.14096C>A (p.Pro4699Gln) c.14126C>A (p.Pro4709Gln) c.14042C>A (p.Pro4681Gln) | |
| 19 | g.38573307C= | CA2335089022 | RYR1 | c.1065C= c.2462C= c.2434C= c.14129C= (p.Pro4710=) c.14114C= (p.Pro4705=) c.14111C= (p.Pro4704=) c.14096C= (p.Pro4699=) c.14126C= (p.Pro4709=) c.14042C= (p.Pro4681=) | |
| 19 | g.38573307C>G | CA405682658 | RYR1 | c.1065C>G c.2462C>G c.2434C>G c.14129C>G (p.Pro4710Arg) c.14114C>G (p.Pro4705Arg) c.14111C>G (p.Pro4704Arg) c.14096C>G (p.Pro4699Arg) c.14126C>G (p.Pro4709Arg) c.14042C>G (p.Pro4681Arg) | |
| 19 | g.38573307C>T | CA060854 | RYR1 | c.1065C>T c.2462C>T c.2434C>T c.14129C>T (p.Pro4710Leu) c.14114C>T (p.Pro4705Leu) c.14111C>T (p.Pro4704Leu) c.14096C>T (p.Pro4699Leu) c.14126C>T (p.Pro4709Leu) c.14042C>T (p.Pro4681Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38573308G>A | CA060836 | RYR1 | c.1065+1G>A c.2462+1G>A c.2434+1G>A c.14129+1G>A (n.14129+1G>A) c.14114+1G>A (n.14114+1G>A) c.14111+1G>A (n.14111+1G>A) c.14096+1G>A (n.14096+1G>A) c.14126+1G>A (n.14126+1G>A) c.14042+1G>A (n.14042+1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38573308G>C | CA405682662 | RYR1 | c.1065+1G>C c.2462+1G>C c.2434+1G>C c.14129+1G>C (n.14129+1G>C) c.14114+1G>C (n.14114+1G>C) c.14111+1G>C (n.14111+1G>C) c.14096+1G>C (n.14096+1G>C) c.14126+1G>C (n.14126+1G>C) c.14042+1G>C (n.14042+1G>C) | |
| 19 | g.38573308G= | CA2335089023 | RYR1 | c.1065+1G= c.2462+1G= c.2434+1G= c.14129+1G= (n.14129+1G=) c.14114+1G= (n.14114+1G=) c.14111+1G= (n.14111+1G=) c.14096+1G= (n.14096+1G=) c.14126+1G= (n.14126+1G=) c.14042+1G= (n.14042+1G=) | |
| 19 | g.38573308G>T | CA405682664 | RYR1 | c.1065+1G>T c.2462+1G>T c.2434+1G>T c.14129+1G>T (n.14129+1G>T) c.14114+1G>T (n.14114+1G>T) c.14111+1G>T (n.14111+1G>T) c.14096+1G>T (n.14096+1G>T) c.14126+1G>T (n.14126+1G>T) c.14042+1G>T (n.14042+1G>T) | ClinVar dbSNP |
| 19 | g.38573309T>A | CA405682673 | RYR1 | c.1065+2T>A c.2462+2T>A c.2434+2T>A c.14129+2T>A (n.14129+2T>A) c.14114+2T>A (n.14114+2T>A) c.14111+2T>A (n.14111+2T>A) c.14096+2T>A (n.14096+2T>A) c.14126+2T>A (n.14126+2T>A) c.14042+2T>A (n.14042+2T>A) | |
| 19 | g.38573309T>C | CA405682670 | RYR1 | c.1065+2T>C c.2462+2T>C c.2434+2T>C c.14129+2T>C (n.14129+2T>C) c.14114+2T>C (n.14114+2T>C) c.14111+2T>C (n.14111+2T>C) c.14096+2T>C (n.14096+2T>C) c.14126+2T>C (n.14126+2T>C) c.14042+2T>C (n.14042+2T>C) | |
| 19 | g.38573309T>G | CA405682667 | RYR1 | c.1065+2T>G c.2462+2T>G c.2434+2T>G c.14129+2T>G (n.14129+2T>G) c.14114+2T>G (n.14114+2T>G) c.14111+2T>G (n.14111+2T>G) c.14096+2T>G (n.14096+2T>G) c.14126+2T>G (n.14126+2T>G) c.14042+2T>G (n.14042+2T>G) | |
| 19 | g.38573310A= | CA2335089024 | RYR1 | c.1065+3A= c.2462+3A= c.2434+3A= c.14129+3A= (n.14129+3A=) c.14114+3A= (n.14114+3A=) c.14111+3A= (n.14111+3A=) c.14096+3A= (n.14096+3A=) c.14126+3A= (n.14126+3A=) c.14042+3A= (n.14042+3A=) | |
| 19 | g.38573310A>C | CA308114802 | RYR1 | c.1065+3A>C c.2462+3A>C c.2434+3A>C c.14129+3A>C (n.14129+3A>C) c.14114+3A>C (n.14114+3A>C) c.14111+3A>C (n.14111+3A>C) c.14096+3A>C (n.14096+3A>C) c.14126+3A>C (n.14126+3A>C) c.14042+3A>C (n.14042+3A>C) | dbSNP |
| 19 | g.38573310A>G | CA308114806 | RYR1 | c.1065+3A>G c.2462+3A>G c.2434+3A>G c.14129+3A>G (n.14129+3A>G) c.14114+3A>G (n.14114+3A>G) c.14111+3A>G (n.14111+3A>G) c.14096+3A>G (n.14096+3A>G) c.14126+3A>G (n.14126+3A>G) c.14042+3A>G (n.14042+3A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38573313G>A | CA645613554 | RYR1 | c.1065+6G>A c.2462+6G>A c.2434+6G>A c.14129+6G>A (n.14129+6G>A) c.14114+6G>A (n.14114+6G>A) c.14111+6G>A (n.14111+6G>A) c.14096+6G>A (n.14096+6G>A) c.14126+6G>A (n.14126+6G>A) c.14042+6G>A (n.14042+6G>A) | COSMIC |
| 19 | g.38573313G= | CA2335089025 | RYR1 | c.1065+6G= c.2462+6G= c.2434+6G= c.14129+6G= (n.14129+6G=) c.14114+6G= (n.14114+6G=) c.14111+6G= (n.14111+6G=) c.14096+6G= (n.14096+6G=) c.14126+6G= (n.14126+6G=) c.14042+6G= (n.14042+6G=) | |
| 19 | g.38573313G>T | CA882063132 | RYR1 | c.1065+6G>T c.2462+6G>T c.2434+6G>T c.14129+6G>T (n.14129+6G>T) c.14114+6G>T (n.14114+6G>T) c.14111+6G>T (n.14111+6G>T) c.14096+6G>T (n.14096+6G>T) c.14126+6G>T (n.14126+6G>T) c.14042+6G>T (n.14042+6G>T) | dbSNP gnomAD v4 |
| 19 | g.38573314A= | CA2335089026 | RYR1 | c.1065+7A= c.2462+7A= c.2434+7A= c.14129+7A= (n.14129+7A=) c.14114+7A= (n.14114+7A=) c.14111+7A= (n.14111+7A=) c.14096+7A= (n.14096+7A=) c.14126+7A= (n.14126+7A=) c.14042+7A= (n.14042+7A=) | |
| 19 | g.38573314A>T | CA060849 | RYR1 | c.1065+7A>T c.2462+7A>T c.2434+7A>T c.14129+7A>T (n.14129+7A>T) c.14114+7A>T (n.14114+7A>T) c.14111+7A>T (n.14111+7A>T) c.14096+7A>T (n.14096+7A>T) c.14126+7A>T (n.14126+7A>T) c.14042+7A>T (n.14042+7A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |