| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38565436G>A | CA405673461 | RYR1 | c.38G>A c.1512G>A c.1494G>A c.13102G>A (p.Val4368Met) c.13087G>A (p.Val4363Met) c.13084G>A (p.Val4362Met) c.13069G>A (p.Val4357Met) c.13099G>A (p.Val4367Met) | gnomAD v4 |
| 19 | g.38565436G>C | CA405673459 | RYR1 | c.38G>C c.1512G>C c.1494G>C c.13102G>C (p.Val4368Leu) c.13087G>C (p.Val4363Leu) c.13084G>C (p.Val4362Leu) c.13069G>C (p.Val4357Leu) c.13099G>C (p.Val4367Leu) | |
| 19 | g.38565436G= | CA2335084878 | RYR1 | c.38G= c.1512G= c.1494G= c.13102G= (p.Val4368=) c.13087G= (p.Val4363=) c.13084G= (p.Val4362=) c.13069G= (p.Val4357=) c.13099G= (p.Val4367=) | |
| 19 | g.38565436G>T | CA405673460 | RYR1 | c.38G>T c.1512G>T c.1494G>T c.13102G>T (p.Val4368Leu) c.13087G>T (p.Val4363Leu) c.13084G>T (p.Val4362Leu) c.13069G>T (p.Val4357Leu) c.13099G>T (p.Val4367Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38565437T>A | CA405673462 | RYR1 | c.39T>A c.1513T>A c.1495T>A c.13103T>A (p.Val4368Glu) c.13088T>A (p.Val4363Glu) c.13085T>A (p.Val4362Glu) c.13070T>A (p.Val4357Glu) c.13100T>A (p.Val4367Glu) | |
| 19 | g.38565437T>C | CA405673463 | RYR1 | c.39T>C c.1513T>C c.1495T>C c.13103T>C (p.Val4368Ala) c.13088T>C (p.Val4363Ala) c.13085T>C (p.Val4362Ala) c.13070T>C (p.Val4357Ala) c.13100T>C (p.Val4367Ala) | gnomAD v4 |
| 19 | g.38565437T>G | CA405673464 | RYR1 | c.39T>G c.1513T>G c.1495T>G c.13103T>G (p.Val4368Gly) c.13088T>G (p.Val4363Gly) c.13085T>G (p.Val4362Gly) c.13070T>G (p.Val4357Gly) c.13100T>G (p.Val4367Gly) | gnomAD v4 |
| 19 | g.38565438G>A | CA507355614 | RYR1 | c.40G>A c.1514G>A c.1496G>A c.13104G>A (p.Val4368=) c.13089G>A (p.Val4363=) c.13086G>A (p.Val4362=) c.13071G>A (p.Val4357=) c.13101G>A (p.Val4367=) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38565438G>C | CA507355615 | RYR1 | c.40G>C c.1514G>C c.1496G>C c.13104G>C (p.Val4368=) c.13089G>C (p.Val4363=) c.13086G>C (p.Val4362=) c.13071G>C (p.Val4357=) c.13101G>C (p.Val4367=) | |
| 19 | g.38565438G= | CA2335084879 | RYR1 | c.40G= c.1514G= c.1496G= c.13104G= (p.Val4368=) c.13089G= (p.Val4363=) c.13086G= (p.Val4362=) c.13071G= (p.Val4357=) c.13101G= (p.Val4367=) | |
| 19 | g.38565438G>T | CA507355616 | RYR1 | c.40G>T c.1514G>T c.1496G>T c.13104G>T (p.Val4368=) c.13089G>T (p.Val4363=) c.13086G>T (p.Val4362=) c.13071G>T (p.Val4357=) c.13101G>T (p.Val4367=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38565439G>A | CA405673465 | RYR1 | c.41G>A c.1515G>A c.1497G>A c.13105G>A (p.Glu4369Lys) c.13090G>A (p.Glu4364Lys) c.13087G>A (p.Glu4363Lys) c.13072G>A (p.Glu4358Lys) c.13102G>A (p.Glu4368Lys) | gnomAD v4 |
| 19 | g.38565439G>C | CA405673467 | RYR1 | c.41G>C c.1515G>C c.1497G>C c.13105G>C (p.Glu4369Gln) c.13090G>C (p.Glu4364Gln) c.13087G>C (p.Glu4363Gln) c.13072G>C (p.Glu4358Gln) c.13102G>C (p.Glu4368Gln) | |
| 19 | g.38565439G>T | CA405673470 | RYR1 | c.41G>T c.1515G>T c.1497G>T c.13105G>T (p.Glu4369Ter) c.13090G>T (p.Glu4364Ter) c.13087G>T (p.Glu4363Ter) c.13072G>T (p.Glu4358Ter) c.13102G>T (p.Glu4368Ter) | gnomAD v4 |
| 19 | g.38565440A>C | CA405673473 | RYR1 | c.42A>C c.1516A>C c.1498A>C c.13106A>C (p.Glu4369Ala) c.13091A>C (p.Glu4364Ala) c.13088A>C (p.Glu4363Ala) c.13073A>C (p.Glu4358Ala) c.13103A>C (p.Glu4368Ala) | |
| 19 | g.38565440A>G | CA405673474 | RYR1 | c.42A>G c.1516A>G c.1498A>G c.13106A>G (p.Glu4369Gly) c.13091A>G (p.Glu4364Gly) c.13088A>G (p.Glu4363Gly) c.13073A>G (p.Glu4358Gly) c.13103A>G (p.Glu4368Gly) | gnomAD v4 |
| 19 | g.38565440A>T | CA405673476 | RYR1 | c.42A>T c.1516A>T c.1498A>T c.13106A>T (p.Glu4369Val) c.13091A>T (p.Glu4364Val) c.13088A>T (p.Glu4363Val) c.13073A>T (p.Glu4358Val) c.13103A>T (p.Glu4368Val) | gnomAD v4 |
| 19 | g.38565441G>A | CA507355621 | RYR1 | c.43G>A c.1517G>A c.1499G>A c.13107G>A (p.Glu4369=) c.13092G>A (p.Glu4364=) c.13089G>A (p.Glu4363=) c.13074G>A (p.Glu4358=) c.13104G>A (p.Glu4368=) | gnomAD v4 |
| 19 | g.38565441G>C | CA405673479 | RYR1 | c.43G>C c.1517G>C c.1499G>C c.13107G>C (p.Glu4369Asp) c.13092G>C (p.Glu4364Asp) c.13089G>C (p.Glu4363Asp) c.13074G>C (p.Glu4358Asp) c.13104G>C (p.Glu4368Asp) | |
| 19 | g.38565441G>T | CA405673482 | RYR1 | c.43G>T c.1517G>T c.1499G>T c.13107G>T (p.Glu4369Asp) c.13092G>T (p.Glu4364Asp) c.13089G>T (p.Glu4363Asp) c.13074G>T (p.Glu4358Asp) c.13104G>T (p.Glu4368Asp) | gnomAD v4 |
| 19 | g.38565442G>A | CA405673496 | RYR1 | c.44G>A c.1518G>A c.1500G>A c.13108G>A (p.Gly4370Ser) c.13093G>A (p.Gly4365Ser) c.13090G>A (p.Gly4364Ser) c.13075G>A (p.Gly4359Ser) c.13105G>A (p.Gly4369Ser) | gnomAD v4 |
| 19 | g.38565442G>C | CA405673494 | RYR1 | c.44G>C c.1518G>C c.1500G>C c.13108G>C (p.Gly4370Arg) c.13093G>C (p.Gly4365Arg) c.13090G>C (p.Gly4364Arg) c.13075G>C (p.Gly4359Arg) c.13105G>C (p.Gly4369Arg) | |
| 19 | g.38565442G>T | CA405673485 | RYR1 | c.44G>T c.1518G>T c.1500G>T c.13108G>T (p.Gly4370Cys) c.13093G>T (p.Gly4365Cys) c.13090G>T (p.Gly4364Cys) c.13075G>T (p.Gly4359Cys) c.13105G>T (p.Gly4369Cys) | gnomAD v4 |
| 19 | g.38565443G>A | CA405673505 | RYR1 | c.45G>A c.1519G>A c.1501G>A c.13109G>A (p.Gly4370Asp) c.13094G>A (p.Gly4365Asp) c.13091G>A (p.Gly4364Asp) c.13076G>A (p.Gly4359Asp) c.13106G>A (p.Gly4369Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38565443G>C | CA405673501 | RYR1 | c.45G>C c.1519G>C c.1501G>C c.13109G>C (p.Gly4370Ala) c.13094G>C (p.Gly4365Ala) c.13091G>C (p.Gly4364Ala) c.13076G>C (p.Gly4359Ala) c.13106G>C (p.Gly4369Ala) | |
| 19 | g.38565443G= | CA2335084880 | RYR1 | c.45G= c.1519G= c.1501G= c.13109G= (p.Gly4370=) c.13094G= (p.Gly4365=) c.13091G= (p.Gly4364=) c.13076G= (p.Gly4359=) c.13106G= (p.Gly4369=) | |
| 19 | g.38565443G>T | CA405673502 | RYR1 | c.45G>T c.1519G>T c.1501G>T c.13109G>T (p.Gly4370Val) c.13094G>T (p.Gly4365Val) c.13091G>T (p.Gly4364Val) c.13076G>T (p.Gly4359Val) c.13106G>T (p.Gly4369Val) | gnomAD v4 |
| 19 | g.38565444C>A | CA507355629 | RYR1 | c.46C>A c.1520C>A c.1502C>A c.13110C>A (p.Gly4370=) c.13095C>A (p.Gly4365=) c.13092C>A (p.Gly4364=) c.13077C>A (p.Gly4359=) c.13107C>A (p.Gly4369=) | gnomAD v4 |
| 19 | g.38565444C>G | CA507355630 | RYR1 | c.46C>G c.1520C>G c.1502C>G c.13110C>G (p.Gly4370=) c.13095C>G (p.Gly4365=) c.13092C>G (p.Gly4364=) c.13077C>G (p.Gly4359=) c.13107C>G (p.Gly4369=) | |
| 19 | g.38565444C>T | CA507355631 | RYR1 | c.46C>T c.1520C>T c.1502C>T c.13110C>T (p.Gly4370=) c.13095C>T (p.Gly4365=) c.13092C>T (p.Gly4364=) c.13077C>T (p.Gly4359=) c.13107C>T (p.Gly4369=) | ClinVar gnomAD v4 |
| 19 | g.38565445G>A | CA405673506 | RYR1 | c.47G>A c.1521G>A c.1503G>A c.13111G>A (p.Ala4371Thr) c.13096G>A (p.Ala4366Thr) c.13093G>A (p.Ala4365Thr) c.13078G>A (p.Ala4360Thr) c.13108G>A (p.Ala4370Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38565445G>C | CA405673508 | RYR1 | c.47G>C c.1521G>C c.1503G>C c.13111G>C (p.Ala4371Pro) c.13096G>C (p.Ala4366Pro) c.13093G>C (p.Ala4365Pro) c.13078G>C (p.Ala4360Pro) c.13108G>C (p.Ala4370Pro) | gnomAD v4 |
| 19 | g.38565445G= | CA2335084881 | RYR1 | c.47G= c.1521G= c.1503G= c.13111G= (p.Ala4371=) c.13096G= (p.Ala4366=) c.13093G= (p.Ala4365=) c.13078G= (p.Ala4360=) c.13108G= (p.Ala4370=) | |
| 19 | g.38565445G>T | CA405673510 | RYR1 | c.47G>T c.1521G>T c.1503G>T c.13111G>T (p.Ala4371Ser) c.13096G>T (p.Ala4366Ser) c.13093G>T (p.Ala4365Ser) c.13078G>T (p.Ala4360Ser) c.13108G>T (p.Ala4370Ser) | gnomAD v4 |
| 19 | g.38565446C>A | CA405673512 | RYR1 | c.48C>A c.1522C>A c.1504C>A c.13112C>A (p.Ala4371Asp) c.13097C>A (p.Ala4366Asp) c.13094C>A (p.Ala4365Asp) c.13079C>A (p.Ala4360Asp) c.13109C>A (p.Ala4370Asp) | gnomAD v4 |
| 19 | g.38565446C>G | CA405673514 | RYR1 | c.48C>G c.1522C>G c.1504C>G c.13112C>G (p.Ala4371Gly) c.13097C>G (p.Ala4366Gly) c.13094C>G (p.Ala4365Gly) c.13079C>G (p.Ala4360Gly) c.13109C>G (p.Ala4370Gly) | gnomAD v4 |
| 19 | g.38565446C>T | CA405673516 | RYR1 | c.48C>T c.1522C>T c.1504C>T c.13112C>T (p.Ala4371Val) c.13097C>T (p.Ala4366Val) c.13094C>T (p.Ala4365Val) c.13079C>T (p.Ala4360Val) c.13109C>T (p.Ala4370Val) | gnomAD v4 |
| 19 | g.38565447del | CA2584909149 | RYR1 | c.49del c.1523del c.1505del c.13113del (p.Lys4372ArgfsTer3) c.13098del (p.Lys4367ArgfsTer3) c.13095del (p.Lys4366ArgfsTer3) c.13080del (p.Lys4361ArgfsTer3) c.13110del (p.Lys4371ArgfsTer3) | gnomAD v4 |
| 19 | g.38565447C>A | CA507355638 | RYR1 | c.49C>A c.1523C>A c.1505C>A c.13113C>A (p.Ala4371=) c.13098C>A (p.Ala4366=) c.13095C>A (p.Ala4365=) c.13080C>A (p.Ala4360=) c.13110C>A (p.Ala4370=) | gnomAD v4 |
| 19 | g.38565447C= | CA2335084883 | RYR1 | c.49C= c.1523C= c.1505C= c.13113C= (p.Ala4371=) c.13098C= (p.Ala4366=) c.13095C= (p.Ala4365=) c.13080C= (p.Ala4360=) c.13110C= (p.Ala4370=) | |
| 19 | g.38565447C>G | CA507355639 | RYR1 | c.49C>G c.1523C>G c.1505C>G c.13113C>G (p.Ala4371=) c.13098C>G (p.Ala4366=) c.13095C>G (p.Ala4365=) c.13080C>G (p.Ala4360=) c.13110C>G (p.Ala4370=) | ClinVar dbSNP |
| 19 | g.38565447C>T | CA507355640 | RYR1 | c.49C>T c.1523C>T c.1505C>T c.13113C>T (p.Ala4371=) c.13098C>T (p.Ala4366=) c.13095C>T (p.Ala4365=) c.13080C>T (p.Ala4360=) c.13110C>T (p.Ala4370=) | |
| 19 | g.38565447_38565450delinsCAAG | CA2335084882 | RYR1 | c.49_52delinsCAAG c.1523_1526delinsCAAG c.1505_1508delinsCAAG c.13113_13116delinsCAAG (p.Ala4371=) c.13098_13101delinsCAAG (p.Ala4366=) c.13095_13098delinsCAAG (p.Ala4365=) c.13080_13083delinsCAAG (p.Ala4360=) c.13110_13113delinsCAAG (p.Ala4370=) | |
| 19 | g.38565448A= | CA2335084884 | RYR1 | c.50A= c.1524A= c.1506A= c.13114A= (p.Lys4372=) c.13099A= (p.Lys4367=) c.13096A= (p.Lys4366=) c.13081A= (p.Lys4361=) c.13111A= (p.Lys4371=) | |
| 19 | g.38565448A>C | CA405673517 | RYR1 | c.50A>C c.1524A>C c.1506A>C c.13114A>C (p.Lys4372Gln) c.13099A>C (p.Lys4367Gln) c.13096A>C (p.Lys4366Gln) c.13081A>C (p.Lys4361Gln) c.13111A>C (p.Lys4371Gln) | gnomAD v4 |
| 19 | g.38565448A>G | CA405673519 | RYR1 | c.50A>G c.1524A>G c.1506A>G c.13114A>G (p.Lys4372Glu) c.13099A>G (p.Lys4367Glu) c.13096A>G (p.Lys4366Glu) c.13081A>G (p.Lys4361Glu) c.13111A>G (p.Lys4371Glu) | |
| 19 | g.38565448A>T | CA405673522 | RYR1 | c.50A>T c.1524A>T c.1506A>T c.13114A>T (p.Lys4372Ter) c.13099A>T (p.Lys4367Ter) c.13096A>T (p.Lys4366Ter) c.13081A>T (p.Lys4361Ter) c.13111A>T (p.Lys4371Ter) | dbSNP |
| 19 | g.38565451_38565453del | CA633066819 | RYR1 | c.53_55del c.1527_1529del c.1509_1511del c.13117_13119del (p.Lys4373del) c.13102_13104del (p.Lys4368del) c.13099_13101del (p.Lys4367del) c.13084_13086del (p.Lys4362del) c.13114_13116del (p.Lys4372del) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38565449A= | CA2335084885 | RYR1 | c.51A= c.1525A= c.1507A= c.13115A= (p.Lys4372=) c.13100A= (p.Lys4367=) c.13097A= (p.Lys4366=) c.13082A= (p.Lys4361=) c.13112A= (p.Lys4371=) | |
| 19 | g.38565449A>C | CA405673533 | RYR1 | c.51A>C c.1525A>C c.1507A>C c.13115A>C (p.Lys4372Thr) c.13100A>C (p.Lys4367Thr) c.13097A>C (p.Lys4366Thr) c.13082A>C (p.Lys4361Thr) c.13112A>C (p.Lys4371Thr) | |
| 19 | g.38565449A>G | CA405673530 | RYR1 | c.51A>G c.1525A>G c.1507A>G c.13115A>G (p.Lys4372Arg) c.13100A>G (p.Lys4367Arg) c.13097A>G (p.Lys4366Arg) c.13082A>G (p.Lys4361Arg) c.13112A>G (p.Lys4371Arg) | dbSNP gnomAD v4 |
| 19 | g.38565449A>T | CA405673526 | RYR1 | c.51A>T c.1525A>T c.1507A>T c.13115A>T (p.Lys4372Met) c.13100A>T (p.Lys4367Met) c.13097A>T (p.Lys4366Met) c.13082A>T (p.Lys4361Met) c.13112A>T (p.Lys4371Met) | |
| 19 | g.38565450G>A | CA507355644 | RYR1 | c.52G>A c.1526G>A c.1508G>A c.13116G>A (p.Lys4372=) c.13101G>A (p.Lys4367=) c.13098G>A (p.Lys4366=) c.13083G>A (p.Lys4361=) c.13113G>A (p.Lys4371=) | dbSNP gnomAD v4 |
| 19 | g.38565450G>C | CA405673536 | RYR1 | c.52G>C c.1526G>C c.1508G>C c.13116G>C (p.Lys4372Asn) c.13101G>C (p.Lys4367Asn) c.13098G>C (p.Lys4366Asn) c.13083G>C (p.Lys4361Asn) c.13113G>C (p.Lys4371Asn) | |
| 19 | g.38565450G= | CA2335084886 | RYR1 | c.52G= c.1526G= c.1508G= c.13116G= (p.Lys4372=) c.13101G= (p.Lys4367=) c.13098G= (p.Lys4366=) c.13083G= (p.Lys4361=) c.13113G= (p.Lys4371=) | |
| 19 | g.38565450G>T | CA405673538 | RYR1 | c.52G>T c.1526G>T c.1508G>T c.13116G>T (p.Lys4372Asn) c.13101G>T (p.Lys4367Asn) c.13098G>T (p.Lys4366Asn) c.13083G>T (p.Lys4361Asn) c.13113G>T (p.Lys4371Asn) | gnomAD v4 |
| 19 | g.38565451A= | CA2335084887 | RYR1 | c.53A= c.1527A= c.1509A= c.13117A= (p.Lys4373=) c.13102A= (p.Lys4368=) c.13099A= (p.Lys4367=) c.13084A= (p.Lys4362=) c.13114A= (p.Lys4372=) | |
| 19 | g.38565451A>C | CA405673543 | RYR1 | c.53A>C c.1527A>C c.1509A>C c.13117A>C (p.Lys4373Gln) c.13102A>C (p.Lys4368Gln) c.13099A>C (p.Lys4367Gln) c.13084A>C (p.Lys4362Gln) c.13114A>C (p.Lys4372Gln) | dbSNP |
| 19 | g.38565451A>G | CA405673545 | RYR1 | c.53A>G c.1527A>G c.1509A>G c.13117A>G (p.Lys4373Glu) c.13102A>G (p.Lys4368Glu) c.13099A>G (p.Lys4367Glu) c.13084A>G (p.Lys4362Glu) c.13114A>G (p.Lys4372Glu) | gnomAD v4 |
| 19 | g.38565451A>T | CA405673549 | RYR1 | c.53A>T c.1527A>T c.1509A>T c.13117A>T (p.Lys4373Ter) c.13102A>T (p.Lys4368Ter) c.13099A>T (p.Lys4367Ter) c.13084A>T (p.Lys4362Ter) c.13114A>T (p.Lys4372Ter) | |
| 19 | g.38565452A>C | CA405673552 | RYR1 | c.54A>C c.1528A>C c.1510A>C c.13118A>C (p.Lys4373Thr) c.13103A>C (p.Lys4368Thr) c.13100A>C (p.Lys4367Thr) c.13085A>C (p.Lys4362Thr) c.13115A>C (p.Lys4372Thr) | |
| 19 | g.38565452A>G | CA405673554 | RYR1 | c.54A>G c.1528A>G c.1510A>G c.13118A>G (p.Lys4373Arg) c.13103A>G (p.Lys4368Arg) c.13100A>G (p.Lys4367Arg) c.13085A>G (p.Lys4362Arg) c.13115A>G (p.Lys4372Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38565452A>T | CA405673555 | RYR1 | c.54A>T c.1528A>T c.1510A>T c.13118A>T (p.Lys4373Met) c.13103A>T (p.Lys4368Met) c.13100A>T (p.Lys4367Met) c.13085A>T (p.Lys4362Met) c.13115A>T (p.Lys4372Met) | gnomAD v4 |
| 19 | g.38565453G>A | CA507355651 | RYR1 | c.55G>A c.1529G>A c.1511G>A c.13119G>A (p.Lys4373=) c.13104G>A (p.Lys4368=) c.13101G>A (p.Lys4367=) c.13086G>A (p.Lys4362=) c.13116G>A (p.Lys4372=) | gnomAD v4 |
| 19 | g.38565453G>C | CA405673556 | RYR1 | c.55G>C c.1529G>C c.1511G>C c.13119G>C (p.Lys4373Asn) c.13104G>C (p.Lys4368Asn) c.13101G>C (p.Lys4367Asn) c.13086G>C (p.Lys4362Asn) c.13116G>C (p.Lys4372Asn) | |
| 19 | g.38565453G>T | CA405673557 | RYR1 | c.55G>T c.1529G>T c.1511G>T c.13119G>T (p.Lys4373Asn) c.13104G>T (p.Lys4368Asn) c.13101G>T (p.Lys4367Asn) c.13086G>T (p.Lys4362Asn) c.13116G>T (p.Lys4372Asn) | |
| 19 | g.38565454G>A | CA405673558 | RYR1 | c.56G>A c.1530G>A c.1512G>A c.13120G>A (p.Val4374Met) c.13105G>A (p.Val4369Met) c.13102G>A (p.Val4368Met) c.13087G>A (p.Val4363Met) c.13117G>A (p.Val4373Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38565454G>C | CA405673559 | RYR1 | c.56G>C c.1530G>C c.1512G>C c.13120G>C (p.Val4374Leu) c.13105G>C (p.Val4369Leu) c.13102G>C (p.Val4368Leu) c.13087G>C (p.Val4363Leu) c.13117G>C (p.Val4373Leu) | |
| 19 | g.38565454G= | CA2335084888 | RYR1 | c.56G= c.1530G= c.1512G= c.13120G= (p.Val4374=) c.13105G= (p.Val4369=) c.13102G= (p.Val4368=) c.13087G= (p.Val4363=) c.13117G= (p.Val4373=) | |
| 19 | g.38565454G>T | CA405673561 | RYR1 | c.56G>T c.1530G>T c.1512G>T c.13120G>T (p.Val4374Leu) c.13105G>T (p.Val4369Leu) c.13102G>T (p.Val4368Leu) c.13087G>T (p.Val4363Leu) c.13117G>T (p.Val4373Leu) | gnomAD v4 |
| 19 | g.38565454_38565455insCA | CA2335084889 | RYR1 | c.56_57insCA c.1530_1531insCA c.1512_1513insCA c.13120_13121insCA (p.Val4374AlafsTer2) c.13105_13106insCA (p.Val4369AlafsTer2) c.13102_13103insCA (p.Val4368AlafsTer2) c.13087_13088insCA (p.Val4363AlafsTer2) c.13117_13118insCA (p.Val4373AlafsTer2) | dbSNP |
| 19 | g.38565455T>A | CA405673569 | RYR1 | c.57T>A c.1531T>A c.1513T>A c.13121T>A (p.Val4374Glu) c.13106T>A (p.Val4369Glu) c.13103T>A (p.Val4368Glu) c.13088T>A (p.Val4363Glu) c.13118T>A (p.Val4373Glu) | |
| 19 | g.38565455T>C | CA405673566 | RYR1 | c.57T>C c.1531T>C c.1513T>C c.13121T>C (p.Val4374Ala) c.13106T>C (p.Val4369Ala) c.13103T>C (p.Val4368Ala) c.13088T>C (p.Val4363Ala) c.13118T>C (p.Val4373Ala) | gnomAD v4 |
| 19 | g.38565455T>G | CA405673563 | RYR1 | c.57T>G c.1531T>G c.1513T>G c.13121T>G (p.Val4374Gly) c.13106T>G (p.Val4369Gly) c.13103T>G (p.Val4368Gly) c.13088T>G (p.Val4363Gly) c.13118T>G (p.Val4373Gly) | |
| 19 | g.38565456G>A | CA205628 | RYR1 | c.58G>A c.1532G>A c.1514G>A c.13122G>A (p.Val4374=) c.13107G>A (p.Val4369=) c.13104G>A (p.Val4368=) c.13089G>A (p.Val4363=) c.13119G>A (p.Val4373=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38565456G>C | CA507355665 | RYR1 | c.58G>C c.1532G>C c.1514G>C c.13122G>C (p.Val4374=) c.13107G>C (p.Val4369=) c.13104G>C (p.Val4368=) c.13089G>C (p.Val4363=) c.13119G>C (p.Val4373=) | |
| 19 | g.38565456G= | CA2335084890 | RYR1 | c.58G= c.1532G= c.1514G= c.13122G= (p.Val4374=) c.13107G= (p.Val4369=) c.13104G= (p.Val4368=) c.13089G= (p.Val4363=) c.13119G= (p.Val4373=) | |
| 19 | g.38565456G>T | CA507355664 | RYR1 | c.58G>T c.1532G>T c.1514G>T c.13122G>T (p.Val4374=) c.13107G>T (p.Val4369=) c.13104G>T (p.Val4368=) c.13089G>T (p.Val4363=) c.13119G>T (p.Val4373=) | gnomAD v4 |
| 19 | g.38565456_38565463delinsGACGGTGA | CA2335084891 | RYR1 | c.58_65delinsGACGGTGA c.1532_1539delinsGACGGTGA c.1514_1521delinsGACGGTGA c.13122_13129delinsGACGGTGA (p.Val4374=) c.13107_13114delinsGACGGTGA (p.Val4369=) c.13104_13111delinsGACGGTGA (p.Val4368=) c.13089_13096delinsGACGGTGA (p.Val4363=) c.13119_13126delinsGACGGTGA (p.Val4373=) | |
| 19 | g.38565457A>C | CA405673573 | RYR1 | c.59A>C c.1533A>C c.1515A>C c.13123A>C (p.Thr4375Pro) c.13108A>C (p.Thr4370Pro) c.13105A>C (p.Thr4369Pro) c.13090A>C (p.Thr4364Pro) c.13120A>C (p.Thr4374Pro) | |
| 19 | g.38565457A>G | CA405673571 | RYR1 | c.59A>G c.1533A>G c.1515A>G c.13123A>G (p.Thr4375Ala) c.13108A>G (p.Thr4370Ala) c.13105A>G (p.Thr4369Ala) c.13090A>G (p.Thr4364Ala) c.13120A>G (p.Thr4374Ala) | gnomAD v4 |
| 19 | g.38565457A>T | CA405673572 | RYR1 | c.59A>T c.1533A>T c.1515A>T c.13123A>T (p.Thr4375Ser) c.13108A>T (p.Thr4370Ser) c.13105A>T (p.Thr4369Ser) c.13090A>T (p.Thr4364Ser) c.13120A>T (p.Thr4374Ser) | |
| 19 | g.38565457_38565463del | CA2335084892 | RYR1 | c.59_65del c.1533_1539del c.1515_1521del c.13123_13129del (p.Thr4375ProfsTer?) c.13108_13114del (p.Thr4370ProfsTer?) c.13105_13111del (p.Thr4369ProfsTer?) c.13090_13096del (p.Thr4364ProfsTer?) c.13120_13126del (p.Thr4374ProfsTer?) | dbSNP |
| 19 | g.38565458C>A | CA405673575 | RYR1 | c.60C>A c.1534C>A c.1516C>A c.13124C>A (p.Thr4375Lys) c.13109C>A (p.Thr4370Lys) c.13106C>A (p.Thr4369Lys) c.13091C>A (p.Thr4364Lys) c.13121C>A (p.Thr4374Lys) | gnomAD v4 |
| 19 | g.38565458C= | CA2335084893 | RYR1 | c.60C= c.1534C= c.1516C= c.13124C= (p.Thr4375=) c.13109C= (p.Thr4370=) c.13106C= (p.Thr4369=) c.13091C= (p.Thr4364=) c.13121C= (p.Thr4374=) | |
| 19 | g.38565458C>G | CA405673576 | RYR1 | c.60C>G c.1534C>G c.1516C>G c.13124C>G (p.Thr4375Arg) c.13109C>G (p.Thr4370Arg) c.13106C>G (p.Thr4369Arg) c.13091C>G (p.Thr4364Arg) c.13121C>G (p.Thr4374Arg) | gnomAD v4 |
| 19 | g.38565458C>T | CA405673577 | RYR1 | c.60C>T c.1534C>T c.1516C>T c.13124C>T (p.Thr4375Met) c.13109C>T (p.Thr4370Met) c.13106C>T (p.Thr4369Met) c.13091C>T (p.Thr4364Met) c.13121C>T (p.Thr4374Met) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38565459G>A | CA507355673 | RYR1 | c.61G>A c.1535G>A c.1517G>A c.13125G>A (p.Thr4375=) c.13110G>A (p.Thr4370=) c.13107G>A (p.Thr4369=) c.13092G>A (p.Thr4364=) c.13122G>A (p.Thr4374=) | gnomAD v4 |
| 19 | g.38565459G>C | CA059582 | RYR1 | c.61G>C c.1535G>C c.1517G>C c.13125G>C (p.Thr4375=) c.13110G>C (p.Thr4370=) c.13107G>C (p.Thr4369=) c.13092G>C (p.Thr4364=) c.13122G>C (p.Thr4374=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38565459G= | CA2335084894 | RYR1 | c.61G= c.1535G= c.1517G= c.13125G= (p.Thr4375=) c.13110G= (p.Thr4370=) c.13107G= (p.Thr4369=) c.13092G= (p.Thr4364=) c.13122G= (p.Thr4374=) | |
| 19 | g.38565459G>T | CA507355674 | RYR1 | c.61G>T c.1535G>T c.1517G>T c.13125G>T (p.Thr4375=) c.13110G>T (p.Thr4370=) c.13107G>T (p.Thr4369=) c.13092G>T (p.Thr4364=) c.13122G>T (p.Thr4374=) | gnomAD v4 |
| 19 | g.38565460G>A | CA405673579 | RYR1 | c.62G>A c.1536G>A c.1518G>A c.13126G>A (p.Val4376Met) c.13111G>A (p.Val4371Met) c.13108G>A (p.Val4370Met) c.13093G>A (p.Val4365Met) c.13123G>A (p.Val4375Met) | gnomAD v4 |
| 19 | g.38565460G>C | CA405673582 | RYR1 | c.62G>C c.1536G>C c.1518G>C c.13126G>C (p.Val4376Leu) c.13111G>C (p.Val4371Leu) c.13108G>C (p.Val4370Leu) c.13093G>C (p.Val4365Leu) c.13123G>C (p.Val4375Leu) | |
| 19 | g.38565460G= | CA2335084895 | RYR1 | c.62G= c.1536G= c.1518G= c.13126G= (p.Val4376=) c.13111G= (p.Val4371=) c.13108G= (p.Val4370=) c.13093G= (p.Val4365=) c.13123G= (p.Val4375=) | |
| 19 | g.38565460G>T | CA405673585 | RYR1 | c.62G>T c.1536G>T c.1518G>T c.13126G>T (p.Val4376Leu) c.13111G>T (p.Val4371Leu) c.13108G>T (p.Val4370Leu) c.13093G>T (p.Val4365Leu) c.13123G>T (p.Val4375Leu) | dbSNP gnomAD v2 |
| 19 | g.38565460_38565480dup | CA2584909150 | RYR1 | c.62_82dup c.1536_1556dup c.1518_1538dup c.13126_13146dup (p.Gly4382_Met4383insValThrGluLeuLeuAlaGly) c.13111_13131dup (p.Gly4377_Met4378insValThrGluLeuLeuAlaGly) c.13108_13128dup (p.Gly4376_Met4377insValThrGluLeuLeuAlaGly) c.13093_13113dup (p.Gly4371_Met4372insValThrGluLeuLeuAlaGly) c.13123_13143dup (p.Gly4381_Met4382insValThrGluLeuLeuAlaGly) | gnomAD v4 |
| 19 | g.38565461T>A | CA405673587 | RYR1 | c.63T>A c.1537T>A c.1519T>A c.13127T>A (p.Val4376Glu) c.13112T>A (p.Val4371Glu) c.13109T>A (p.Val4370Glu) c.13094T>A (p.Val4365Glu) c.13124T>A (p.Val4375Glu) | |
| 19 | g.38565461T>C | CA405673590 | RYR1 | c.63T>C c.1537T>C c.1519T>C c.13127T>C (p.Val4376Ala) c.13112T>C (p.Val4371Ala) c.13109T>C (p.Val4370Ala) c.13094T>C (p.Val4365Ala) c.13124T>C (p.Val4375Ala) | gnomAD v4 |
| 19 | g.38565461T>G | CA405673592 | RYR1 | c.63T>G c.1537T>G c.1519T>G c.13127T>G (p.Val4376Gly) c.13112T>G (p.Val4371Gly) c.13109T>G (p.Val4370Gly) c.13094T>G (p.Val4365Gly) c.13124T>G (p.Val4375Gly) | |
| 19 | g.38565462G>A | CA10648661 | RYR1 | c.64G>A c.1538G>A c.1520G>A c.13128G>A (p.Val4376=) c.13113G>A (p.Val4371=) c.13110G>A (p.Val4370=) c.13095G>A (p.Val4365=) c.13125G>A (p.Val4375=) | ClinVar dbSNP |
| 19 | g.38565462G>C | CA080786 | RYR1 | c.64G>C c.1538G>C c.1520G>C c.13128G>C (p.Val4376=) c.13113G>C (p.Val4371=) c.13110G>C (p.Val4370=) c.13095G>C (p.Val4365=) c.13125G>C (p.Val4375=) | |
| 19 | g.38565462G= | CA2335084896 | RYR1 | c.64G= c.1538G= c.1520G= c.13128G= (p.Val4376=) c.13113G= (p.Val4371=) c.13110G= (p.Val4370=) c.13095G= (p.Val4365=) c.13125G= (p.Val4375=) | |
| 19 | g.38565462G>T | CA507355682 | RYR1 | c.64G>T c.1538G>T c.1520G>T c.13128G>T (p.Val4376=) c.13113G>T (p.Val4371=) c.13110G>T (p.Val4370=) c.13095G>T (p.Val4365=) c.13125G>T (p.Val4375=) | gnomAD v4 |
| 19 | g.38565463A>C | CA405673597 | RYR1 | c.65A>C c.1539A>C c.1521A>C c.13129A>C (p.Thr4377Pro) c.13114A>C (p.Thr4372Pro) c.13111A>C (p.Thr4371Pro) c.13096A>C (p.Thr4366Pro) c.13126A>C (p.Thr4376Pro) | |
| 19 | g.38565463A>G | CA405673603 | RYR1 | c.65A>G c.1539A>G c.1521A>G c.13129A>G (p.Thr4377Ala) c.13114A>G (p.Thr4372Ala) c.13111A>G (p.Thr4371Ala) c.13096A>G (p.Thr4366Ala) c.13126A>G (p.Thr4376Ala) | gnomAD v4 |
| 19 | g.38565463A>T | CA405673602 | RYR1 | c.65A>T c.1539A>T c.1521A>T c.13129A>T (p.Thr4377Ser) c.13114A>T (p.Thr4372Ser) c.13111A>T (p.Thr4371Ser) c.13096A>T (p.Thr4366Ser) c.13126A>T (p.Thr4376Ser) | |
| 19 | g.38565464C>A | CA405673606 | RYR1 | c.66C>A c.1540C>A c.1522C>A c.13130C>A (p.Thr4377Asn) c.13115C>A (p.Thr4372Asn) c.13112C>A (p.Thr4371Asn) c.13097C>A (p.Thr4366Asn) c.13127C>A (p.Thr4376Asn) | gnomAD v4 |
| 19 | g.38565464C>G | CA405673612 | RYR1 | c.66C>G c.1540C>G c.1522C>G c.13130C>G (p.Thr4377Ser) c.13115C>G (p.Thr4372Ser) c.13112C>G (p.Thr4371Ser) c.13097C>G (p.Thr4366Ser) c.13127C>G (p.Thr4376Ser) | gnomAD v4 |
| 19 | g.38565464C>T | CA405673615 | RYR1 | c.66C>T c.1540C>T c.1522C>T c.13130C>T (p.Thr4377Ile) c.13115C>T (p.Thr4372Ile) c.13112C>T (p.Thr4371Ile) c.13097C>T (p.Thr4366Ile) c.13127C>T (p.Thr4376Ile) | gnomAD v4 |
| 19 | g.38565465C>A | CA507355687 | RYR1 | c.67C>A c.1541C>A c.1523C>A c.13131C>A (p.Thr4377=) c.13116C>A (p.Thr4372=) c.13113C>A (p.Thr4371=) c.13098C>A (p.Thr4366=) c.13128C>A (p.Thr4376=) | gnomAD v4 |
| 19 | g.38565465C= | CA2335084897 | RYR1 | c.67C= c.1541C= c.1523C= c.13131C= (p.Thr4377=) c.13116C= (p.Thr4372=) c.13113C= (p.Thr4371=) c.13098C= (p.Thr4366=) c.13128C= (p.Thr4376=) | |
| 19 | g.38565465C>G | CA507355690 | RYR1 | c.67C>G c.1541C>G c.1523C>G c.13131C>G (p.Thr4377=) c.13116C>G (p.Thr4372=) c.13113C>G (p.Thr4371=) c.13098C>G (p.Thr4366=) c.13128C>G (p.Thr4376=) | dbSNP |
| 19 | g.38565465C>T | CA507355694 | RYR1 | c.67C>T c.1541C>T c.1523C>T c.13131C>T (p.Thr4377=) c.13116C>T (p.Thr4372=) c.13113C>T (p.Thr4371=) c.13098C>T (p.Thr4366=) c.13128C>T (p.Thr4376=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38565466G>A | CA405673617 | RYR1 | c.68G>A c.1542G>A c.1524G>A c.13132G>A (p.Glu4378Lys) c.13117G>A (p.Glu4373Lys) c.13114G>A (p.Glu4372Lys) c.13099G>A (p.Glu4367Lys) c.13129G>A (p.Glu4377Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38565466G>C | CA405673620 | RYR1 | c.68G>C c.1542G>C c.1524G>C c.13132G>C (p.Glu4378Gln) c.13117G>C (p.Glu4373Gln) c.13114G>C (p.Glu4372Gln) c.13099G>C (p.Glu4367Gln) c.13129G>C (p.Glu4377Gln) | ClinVar |
| 19 | g.38565466G= | CA2335084898 | RYR1 | c.68G= c.1542G= c.1524G= c.13132G= (p.Glu4378=) c.13117G= (p.Glu4373=) c.13114G= (p.Glu4372=) c.13099G= (p.Glu4367=) c.13129G= (p.Glu4377=) | |
| 19 | g.38565466G>T | CA405673627 | RYR1 | c.68G>T c.1542G>T c.1524G>T c.13132G>T (p.Glu4378Ter) c.13117G>T (p.Glu4373Ter) c.13114G>T (p.Glu4372Ter) c.13099G>T (p.Glu4367Ter) c.13129G>T (p.Glu4377Ter) | gnomAD v4 |
| 19 | g.38565467A= | CA2335084899 | RYR1 | c.69A= c.1543A= c.1525A= c.13133A= (p.Glu4378=) c.13118A= (p.Glu4373=) c.13115A= (p.Glu4372=) c.13100A= (p.Glu4367=) c.13130A= (p.Glu4377=) | |
| 19 | g.38565467A>C | CA405673631 | RYR1 | c.69A>C c.1543A>C c.1525A>C c.13133A>C (p.Glu4378Ala) c.13118A>C (p.Glu4373Ala) c.13115A>C (p.Glu4372Ala) c.13100A>C (p.Glu4367Ala) c.13130A>C (p.Glu4377Ala) | |
| 19 | g.38565467A>G | CA405673642 | RYR1 | c.69A>G c.1543A>G c.1525A>G c.13133A>G (p.Glu4378Gly) c.13118A>G (p.Glu4373Gly) c.13115A>G (p.Glu4372Gly) c.13100A>G (p.Glu4367Gly) c.13130A>G (p.Glu4377Gly) | dbSNP gnomAD v4 |
| 19 | g.38565467A>T | CA405673643 | RYR1 | c.69A>T c.1543A>T c.1525A>T c.13133A>T (p.Glu4378Val) c.13118A>T (p.Glu4373Val) c.13115A>T (p.Glu4372Val) c.13100A>T (p.Glu4367Val) c.13130A>T (p.Glu4377Val) | |
| 19 | g.38565468G>A | CA507355700 | RYR1 | c.70G>A c.1544G>A c.1526G>A c.13134G>A (p.Glu4378=) c.13119G>A (p.Glu4373=) c.13116G>A (p.Glu4372=) c.13101G>A (p.Glu4367=) c.13131G>A (p.Glu4377=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38565468G>C | CA405673647 | RYR1 | c.70G>C c.1544G>C c.1526G>C c.13134G>C (p.Glu4378Asp) c.13119G>C (p.Glu4373Asp) c.13116G>C (p.Glu4372Asp) c.13101G>C (p.Glu4367Asp) c.13131G>C (p.Glu4377Asp) | |
| 19 | g.38565468G= | CA2335084900 | RYR1 | c.70G= c.1544G= c.1526G= c.13134G= (p.Glu4378=) c.13119G= (p.Glu4373=) c.13116G= (p.Glu4372=) c.13101G= (p.Glu4367=) c.13131G= (p.Glu4377=) | |
| 19 | g.38565468G>T | CA405673649 | RYR1 | c.70G>T c.1544G>T c.1526G>T c.13134G>T (p.Glu4378Asp) c.13119G>T (p.Glu4373Asp) c.13116G>T (p.Glu4372Asp) c.13101G>T (p.Glu4367Asp) c.13131G>T (p.Glu4377Asp) | gnomAD v4 |
| 19 | g.38565469C>A | CA405673655 | RYR1 | c.71C>A c.1545C>A c.1527C>A c.13135C>A (p.Leu4379Ile) c.13120C>A (p.Leu4374Ile) c.13117C>A (p.Leu4373Ile) c.13102C>A (p.Leu4368Ile) c.13132C>A (p.Leu4378Ile) | gnomAD v4 |
| 19 | g.38565469C= | CA2335084901 | RYR1 | c.71C= c.1545C= c.1527C= c.13135C= (p.Leu4379=) c.13120C= (p.Leu4374=) c.13117C= (p.Leu4373=) c.13102C= (p.Leu4368=) c.13132C= (p.Leu4378=) | |
| 19 | g.38565469C>G | CA405673654 | RYR1 | c.71C>G c.1545C>G c.1527C>G c.13135C>G (p.Leu4379Val) c.13120C>G (p.Leu4374Val) c.13117C>G (p.Leu4373Val) c.13102C>G (p.Leu4368Val) c.13132C>G (p.Leu4378Val) | |
| 19 | g.38565469C>T | CA405673652 | RYR1 | c.71C>T c.1545C>T c.1527C>T c.13135C>T (p.Leu4379Phe) c.13120C>T (p.Leu4374Phe) c.13117C>T (p.Leu4373Phe) c.13102C>T (p.Leu4368Phe) c.13132C>T (p.Leu4378Phe) | dbSNP gnomAD v4 |
| 19 | g.38565470T>A | CA405673662 | RYR1 | c.72T>A c.1546T>A c.1528T>A c.13136T>A (p.Leu4379His) c.13121T>A (p.Leu4374His) c.13118T>A (p.Leu4373His) c.13103T>A (p.Leu4368His) c.13133T>A (p.Leu4378His) | |
| 19 | g.38565470T>C | CA405673658 | RYR1 | c.72T>C c.1546T>C c.1528T>C c.13136T>C (p.Leu4379Pro) c.13121T>C (p.Leu4374Pro) c.13118T>C (p.Leu4373Pro) c.13103T>C (p.Leu4368Pro) c.13133T>C (p.Leu4378Pro) | |
| 19 | g.38565470T>G | CA405673660 | RYR1 | c.72T>G c.1546T>G c.1528T>G c.13136T>G (p.Leu4379Arg) c.13121T>G (p.Leu4374Arg) c.13118T>G (p.Leu4373Arg) c.13103T>G (p.Leu4368Arg) c.13133T>G (p.Leu4378Arg) | |
| 19 | g.38565471C>A | CA507355705 | RYR1 | c.73C>A c.1547C>A c.1529C>A c.13137C>A (p.Leu4379=) c.13122C>A (p.Leu4374=) c.13119C>A (p.Leu4373=) c.13104C>A (p.Leu4368=) c.13134C>A (p.Leu4378=) | gnomAD v4 |
| 19 | g.38565471C= | CA2335084902 | RYR1 | c.73C= c.1547C= c.1529C= c.13137C= (p.Leu4379=) c.13122C= (p.Leu4374=) c.13119C= (p.Leu4373=) c.13104C= (p.Leu4368=) c.13134C= (p.Leu4378=) | |
| 19 | g.38565471C>G | CA507355706 | RYR1 | c.73C>G c.1547C>G c.1529C>G c.13137C>G (p.Leu4379=) c.13122C>G (p.Leu4374=) c.13119C>G (p.Leu4373=) c.13104C>G (p.Leu4368=) c.13134C>G (p.Leu4378=) | |
| 19 | g.38565471C>T | CA059594 | RYR1 | c.73C>T c.1547C>T c.1529C>T c.13137C>T (p.Leu4379=) c.13122C>T (p.Leu4374=) c.13119C>T (p.Leu4373=) c.13104C>T (p.Leu4368=) c.13134C>T (p.Leu4378=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38565472C>A | CA405673669 | RYR1 | c.74C>A c.1548C>A c.1530C>A c.13138C>A (p.Leu4380Met) c.13123C>A (p.Leu4375Met) c.13120C>A (p.Leu4374Met) c.13105C>A (p.Leu4369Met) c.13135C>A (p.Leu4379Met) | gnomAD v4 |
| 19 | g.38565472C= | CA2335084903 | RYR1 | c.74C= c.1548C= c.1530C= c.13138C= (p.Leu4380=) c.13123C= (p.Leu4375=) c.13120C= (p.Leu4374=) c.13105C= (p.Leu4369=) c.13135C= (p.Leu4379=) | |
| 19 | g.38565472C>G | CA405673673 | RYR1 | c.74C>G c.1548C>G c.1530C>G c.13138C>G (p.Leu4380Val) c.13123C>G (p.Leu4375Val) c.13120C>G (p.Leu4374Val) c.13105C>G (p.Leu4369Val) c.13135C>G (p.Leu4379Val) | |
| 19 | g.38565472C>T | CA507355709 | RYR1 | c.74C>T c.1548C>T c.1530C>T c.13138C>T (p.Leu4380=) c.13123C>T (p.Leu4375=) c.13120C>T (p.Leu4374=) c.13105C>T (p.Leu4369=) c.13135C>T (p.Leu4379=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38565473del | CA2584909151 | RYR1 | c.75del c.1549del c.1531del c.13139del (p.Leu4380ArgfsTer?) c.13124del (p.Leu4375ArgfsTer?) c.13121del (p.Leu4374ArgfsTer?) c.13106del (p.Leu4369ArgfsTer?) c.13136del (p.Leu4379ArgfsTer?) | gnomAD v4 |
| 19 | g.38565473T>A | CA405673687 | RYR1 | c.75T>A c.1549T>A c.1531T>A c.13139T>A (p.Leu4380Gln) c.13124T>A (p.Leu4375Gln) c.13121T>A (p.Leu4374Gln) c.13106T>A (p.Leu4369Gln) c.13136T>A (p.Leu4379Gln) | gnomAD v4 |
| 19 | g.38565473T>C | CA405673685 | RYR1 | c.75T>C c.1549T>C c.1531T>C c.13139T>C (p.Leu4380Pro) c.13124T>C (p.Leu4375Pro) c.13121T>C (p.Leu4374Pro) c.13106T>C (p.Leu4369Pro) c.13136T>C (p.Leu4379Pro) | gnomAD v4 |
| 19 | g.38565473T>G | CA405673677 | RYR1 | c.75T>G c.1549T>G c.1531T>G c.13139T>G (p.Leu4380Arg) c.13124T>G (p.Leu4375Arg) c.13121T>G (p.Leu4374Arg) c.13106T>G (p.Leu4369Arg) c.13136T>G (p.Leu4379Arg) | |
| 19 | g.38565474G>A | CA507355712 | RYR1 | c.76G>A c.1550G>A c.1532G>A c.13140G>A (p.Leu4380=) c.13125G>A (p.Leu4375=) c.13122G>A (p.Leu4374=) c.13107G>A (p.Leu4369=) c.13137G>A (p.Leu4379=) | gnomAD v4 |
| 19 | g.38565474G>C | CA507355713 | RYR1 | c.76G>C c.1550G>C c.1532G>C c.13140G>C (p.Leu4380=) c.13125G>C (p.Leu4375=) c.13122G>C (p.Leu4374=) c.13107G>C (p.Leu4369=) c.13137G>C (p.Leu4379=) | |
| 19 | g.38565474G>T | CA507355714 | RYR1 | c.76G>T c.1550G>T c.1532G>T c.13140G>T (p.Leu4380=) c.13125G>T (p.Leu4375=) c.13122G>T (p.Leu4374=) c.13107G>T (p.Leu4369=) c.13137G>T (p.Leu4379=) | gnomAD v4 |
| 19 | g.38565475G>A | CA405673690 | RYR1 | c.77G>A c.1551G>A c.1533G>A c.13141G>A (p.Ala4381Thr) c.13126G>A (p.Ala4376Thr) c.13123G>A (p.Ala4375Thr) c.13108G>A (p.Ala4370Thr) c.13138G>A (p.Ala4380Thr) | gnomAD v4 |
| 19 | g.38565475G>C | CA405673694 | RYR1 | c.77G>C c.1551G>C c.1533G>C c.13141G>C (p.Ala4381Pro) c.13126G>C (p.Ala4376Pro) c.13123G>C (p.Ala4375Pro) c.13108G>C (p.Ala4370Pro) c.13138G>C (p.Ala4380Pro) | |
| 19 | g.38565475G>T | CA405673695 | RYR1 | c.77G>T c.1551G>T c.1533G>T c.13141G>T (p.Ala4381Ser) c.13126G>T (p.Ala4376Ser) c.13123G>T (p.Ala4375Ser) c.13108G>T (p.Ala4370Ser) c.13138G>T (p.Ala4380Ser) | gnomAD v4 |
| 19 | g.38565476C>A | CA405673696 | RYR1 | c.78C>A c.1552C>A c.1534C>A c.13142C>A (p.Ala4381Glu) c.13127C>A (p.Ala4376Glu) c.13124C>A (p.Ala4375Glu) c.13109C>A (p.Ala4370Glu) c.13139C>A (p.Ala4380Glu) | dbSNP gnomAD v4 |
| 19 | g.38565476C= | CA2335084904 | RYR1 | c.78C= c.1552C= c.1534C= c.13142C= (p.Ala4381=) c.13127C= (p.Ala4376=) c.13124C= (p.Ala4375=) c.13109C= (p.Ala4370=) c.13139C= (p.Ala4380=) | |
| 19 | g.38565476C>G | CA024035 | RYR1 | c.78C>G c.1552C>G c.1534C>G c.13142C>G (p.Ala4381Gly) c.13127C>G (p.Ala4376Gly) c.13124C>G (p.Ala4375Gly) c.13109C>G (p.Ala4370Gly) c.13139C>G (p.Ala4380Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38565476C>T | CA405673697 | RYR1 | c.78C>T c.1552C>T c.1534C>T c.13142C>T (p.Ala4381Val) c.13127C>T (p.Ala4376Val) c.13124C>T (p.Ala4375Val) c.13109C>T (p.Ala4370Val) c.13139C>T (p.Ala4380Val) | gnomAD v4 |
| 19 | g.38565477A>C | CA507355717 | RYR1 | c.79A>C c.1553A>C c.1535A>C c.13143A>C (p.Ala4381=) c.13128A>C (p.Ala4376=) c.13125A>C (p.Ala4375=) c.13110A>C (p.Ala4370=) c.13140A>C (p.Ala4380=) | |
| 19 | g.38565477A>G | CA507355718 | RYR1 | c.79A>G c.1553A>G c.1535A>G c.13143A>G (p.Ala4381=) c.13128A>G (p.Ala4376=) c.13125A>G (p.Ala4375=) c.13110A>G (p.Ala4370=) c.13140A>G (p.Ala4380=) | gnomAD v4 |
| 19 | g.38565477A>T | CA507355719 | RYR1 | c.79A>T c.1553A>T c.1535A>T c.13143A>T (p.Ala4381=) c.13128A>T (p.Ala4376=) c.13125A>T (p.Ala4375=) c.13110A>T (p.Ala4370=) c.13140A>T (p.Ala4380=) | |
| 19 | g.38565478G>A | CA405673699 | RYR1 | c.80G>A c.1554G>A c.1536G>A c.13144G>A (p.Gly4382Ser) c.13129G>A (p.Gly4377Ser) c.13126G>A (p.Gly4376Ser) c.13111G>A (p.Gly4371Ser) c.13141G>A (p.Gly4381Ser) | dbSNP gnomAD v4 |
| 19 | g.38565478G>C | CA405673704 | RYR1 | c.80G>C c.1554G>C c.1536G>C c.13144G>C (p.Gly4382Arg) c.13129G>C (p.Gly4377Arg) c.13126G>C (p.Gly4376Arg) c.13111G>C (p.Gly4371Arg) c.13141G>C (p.Gly4381Arg) | |
| 19 | g.38565478G= | CA2335084905 | RYR1 | c.80G= c.1554G= c.1536G= c.13144G= (p.Gly4382=) c.13129G= (p.Gly4377=) c.13126G= (p.Gly4376=) c.13111G= (p.Gly4371=) c.13141G= (p.Gly4381=) | |
| 19 | g.38565478G>T | CA405673702 | RYR1 | c.80G>T c.1554G>T c.1536G>T c.13144G>T (p.Gly4382Cys) c.13129G>T (p.Gly4377Cys) c.13126G>T (p.Gly4376Cys) c.13111G>T (p.Gly4371Cys) c.13141G>T (p.Gly4381Cys) | gnomAD v4 |
| 19 | g.38565479G>A | CA405673710 | RYR1 | c.81G>A c.1555G>A c.1537G>A c.13145G>A (p.Gly4382Asp) c.13130G>A (p.Gly4377Asp) c.13127G>A (p.Gly4376Asp) c.13112G>A (p.Gly4371Asp) c.13142G>A (p.Gly4381Asp) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38565479G>C | CA405673714 | RYR1 | c.81G>C c.1555G>C c.1537G>C c.13145G>C (p.Gly4382Ala) c.13130G>C (p.Gly4377Ala) c.13127G>C (p.Gly4376Ala) c.13112G>C (p.Gly4371Ala) c.13142G>C (p.Gly4381Ala) | |
| 19 | g.38565479G= | CA2335084906 | RYR1 | c.81G= c.1555G= c.1537G= c.13145G= (p.Gly4382=) c.13130G= (p.Gly4377=) c.13127G= (p.Gly4376=) c.13112G= (p.Gly4371=) c.13142G= (p.Gly4381=) | |
| 19 | g.38565479G>T | CA405673716 | RYR1 | c.81G>T c.1555G>T c.1537G>T c.13145G>T (p.Gly4382Val) c.13130G>T (p.Gly4377Val) c.13127G>T (p.Gly4376Val) c.13112G>T (p.Gly4371Val) c.13142G>T (p.Gly4381Val) | gnomAD v4 |
| 19 | g.38565480C>A | CA507355723 | RYR1 | c.82C>A c.1556C>A c.1538C>A c.13146C>A (p.Gly4382=) c.13131C>A (p.Gly4377=) c.13128C>A (p.Gly4376=) c.13113C>A (p.Gly4371=) c.13143C>A (p.Gly4381=) | gnomAD v4 |
| 19 | g.38565480C= | CA2335084907 | RYR1 | c.82C= c.1556C= c.1538C= c.13146C= (p.Gly4382=) c.13131C= (p.Gly4377=) c.13128C= (p.Gly4376=) c.13113C= (p.Gly4371=) c.13143C= (p.Gly4381=) | |
| 19 | g.38565480C>G | CA507355724 | RYR1 | c.82C>G c.1556C>G c.1538C>G c.13146C>G (p.Gly4382=) c.13131C>G (p.Gly4377=) c.13128C>G (p.Gly4376=) c.13113C>G (p.Gly4371=) c.13143C>G (p.Gly4381=) | dbSNP |
| 19 | g.38565480C>T | CA507355725 | RYR1 | c.82C>T c.1556C>T c.1538C>T c.13146C>T (p.Gly4382=) c.13131C>T (p.Gly4377=) c.13128C>T (p.Gly4376=) c.13113C>T (p.Gly4371=) c.13143C>T (p.Gly4381=) | gnomAD v4 |
| 19 | g.38565481A>C | CA405673718 | RYR1 | c.83A>C c.1557A>C c.1539A>C c.13147A>C (p.Met4383Leu) c.13132A>C (p.Met4378Leu) c.13129A>C (p.Met4377Leu) c.13114A>C (p.Met4372Leu) c.13144A>C (p.Met4382Leu) | |
| 19 | g.38565481A>G | CA405673719 | RYR1 | c.83A>G c.1557A>G c.1539A>G c.13147A>G (p.Met4383Val) c.13132A>G (p.Met4378Val) c.13129A>G (p.Met4377Val) c.13114A>G (p.Met4372Val) c.13144A>G (p.Met4382Val) | gnomAD v4 |
| 19 | g.38565481A>T | CA405673720 | RYR1 | c.83A>T c.1557A>T c.1539A>T c.13147A>T (p.Met4383Leu) c.13132A>T (p.Met4378Leu) c.13129A>T (p.Met4377Leu) c.13114A>T (p.Met4372Leu) c.13144A>T (p.Met4382Leu) | |
| 19 | g.38565482T>A | CA405673721 | RYR1 | c.84T>A c.1558T>A c.1540T>A c.13148T>A (p.Met4383Lys) c.13133T>A (p.Met4378Lys) c.13130T>A (p.Met4377Lys) c.13115T>A (p.Met4372Lys) c.13145T>A (p.Met4382Lys) | |
| 19 | g.38565482T>C | CA405673722 | RYR1 | c.84T>C c.1558T>C c.1540T>C c.13148T>C (p.Met4383Thr) c.13133T>C (p.Met4378Thr) c.13130T>C (p.Met4377Thr) c.13115T>C (p.Met4372Thr) c.13145T>C (p.Met4382Thr) | gnomAD v4 |
| 19 | g.38565482T>G | CA405673723 | RYR1 | c.84T>G c.1558T>G c.1540T>G c.13148T>G (p.Met4383Arg) c.13133T>G (p.Met4378Arg) c.13130T>G (p.Met4377Arg) c.13115T>G (p.Met4372Arg) c.13145T>G (p.Met4382Arg) | |
| 19 | g.38565483G>A | CA405673725 | RYR1 | c.85G>A c.1559G>A c.1541G>A c.13149G>A (p.Met4383Ile) c.13134G>A (p.Met4378Ile) c.13131G>A (p.Met4377Ile) c.13116G>A (p.Met4372Ile) c.13146G>A (p.Met4382Ile) | gnomAD v4 |
| 19 | g.38565483G>C | CA405673726 | RYR1 | c.85G>C c.1559G>C c.1541G>C c.13149G>C (p.Met4383Ile) c.13134G>C (p.Met4378Ile) c.13131G>C (p.Met4377Ile) c.13116G>C (p.Met4372Ile) c.13146G>C (p.Met4382Ile) | |
| 19 | g.38565483G>T | CA405673731 | RYR1 | c.85G>T c.1559G>T c.1541G>T c.13149G>T (p.Met4383Ile) c.13134G>T (p.Met4378Ile) c.13131G>T (p.Met4377Ile) c.13116G>T (p.Met4372Ile) c.13146G>T (p.Met4382Ile) | gnomAD v4 |
| 19 | g.38565484C>A | CA405673735 | RYR1 | c.86C>A c.1560C>A c.1542C>A c.13150C>A (p.Pro4384Thr) c.13135C>A (p.Pro4379Thr) c.13132C>A (p.Pro4378Thr) c.13117C>A (p.Pro4373Thr) c.13147C>A (p.Pro4383Thr) | gnomAD v4 |
| 19 | g.38565484C>G | CA405673737 | RYR1 | c.86C>G c.1560C>G c.1542C>G c.13150C>G (p.Pro4384Ala) c.13135C>G (p.Pro4379Ala) c.13132C>G (p.Pro4378Ala) c.13117C>G (p.Pro4373Ala) c.13147C>G (p.Pro4383Ala) | |
| 19 | g.38565484C>T | CA405673734 | RYR1 | c.86C>T c.1560C>T c.1542C>T c.13150C>T (p.Pro4384Ser) c.13135C>T (p.Pro4379Ser) c.13132C>T (p.Pro4378Ser) c.13117C>T (p.Pro4373Ser) c.13147C>T (p.Pro4383Ser) | gnomAD v4 |
| 19 | g.38565486del | CA2584909152 | RYR1 | c.88del c.1562del c.1544del c.13152del (p.Asp4385ThrfsTer?) c.13137del (p.Asp4380ThrfsTer?) c.13134del (p.Asp4379ThrfsTer?) c.13119del (p.Asp4374ThrfsTer?) c.13149del (p.Asp4384ThrfsTer?) | gnomAD v4 |
| 19 | g.38565485C>A | CA405673740 | RYR1 | c.87C>A c.1561C>A c.1543C>A c.13151C>A (p.Pro4384His) c.13136C>A (p.Pro4379His) c.13133C>A (p.Pro4378His) c.13118C>A (p.Pro4373His) c.13148C>A (p.Pro4383His) | gnomAD v4 |
| 19 | g.38565485C>G | CA405673745 | RYR1 | c.87C>G c.1561C>G c.1543C>G c.13151C>G (p.Pro4384Arg) c.13136C>G (p.Pro4379Arg) c.13133C>G (p.Pro4378Arg) c.13118C>G (p.Pro4373Arg) c.13148C>G (p.Pro4383Arg) | |
| 19 | g.38565485C>T | CA405673743 | RYR1 | c.87C>T c.1561C>T c.1543C>T c.13151C>T (p.Pro4384Leu) c.13136C>T (p.Pro4379Leu) c.13133C>T (p.Pro4378Leu) c.13118C>T (p.Pro4373Leu) c.13148C>T (p.Pro4383Leu) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38565486C>A | CA507355734 | RYR1 | c.88C>A c.1562C>A c.1544C>A c.13152C>A (p.Pro4384=) c.13137C>A (p.Pro4379=) c.13134C>A (p.Pro4378=) c.13119C>A (p.Pro4373=) c.13149C>A (p.Pro4383=) | gnomAD v4 |
| 19 | g.38565486C= | CA2335084908 | RYR1 | c.88C= c.1562C= c.1544C= c.13152C= (p.Pro4384=) c.13137C= (p.Pro4379=) c.13134C= (p.Pro4378=) c.13119C= (p.Pro4373=) c.13149C= (p.Pro4383=) | |
| 19 | g.38565486C>G | CA308109508 | RYR1 | c.88C>G c.1562C>G c.1544C>G c.13152C>G (p.Pro4384=) c.13137C>G (p.Pro4379=) c.13134C>G (p.Pro4378=) c.13119C>G (p.Pro4373=) c.13149C>G (p.Pro4383=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38565486C>T | CA059604 | RYR1 | c.88C>T c.1562C>T c.1544C>T c.13152C>T (p.Pro4384=) c.13137C>T (p.Pro4379=) c.13134C>T (p.Pro4378=) c.13119C>T (p.Pro4373=) c.13149C>T (p.Pro4383=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38565487G>A | CA405673753 | RYR1 | c.89G>A c.1563G>A c.1545G>A c.13153G>A (p.Asp4385Asn) c.13138G>A (p.Asp4380Asn) c.13135G>A (p.Asp4379Asn) c.13120G>A (p.Asp4374Asn) c.13150G>A (p.Asp4384Asn) | gnomAD v4 |
| 19 | g.38565487G>C | CA405673755 | RYR1 | c.89G>C c.1563G>C c.1545G>C c.13153G>C (p.Asp4385His) c.13138G>C (p.Asp4380His) c.13135G>C (p.Asp4379His) c.13120G>C (p.Asp4374His) c.13150G>C (p.Asp4384His) | gnomAD v4 |
| 19 | g.38565487G= | CA2335084909 | RYR1 | c.89G= c.1563G= c.1545G= c.13153G= (p.Asp4385=) c.13138G= (p.Asp4380=) c.13135G= (p.Asp4379=) c.13120G= (p.Asp4374=) c.13150G= (p.Asp4384=) | |
| 19 | g.38565487G>T | CA405673760 | RYR1 | c.89G>T c.1563G>T c.1545G>T c.13153G>T (p.Asp4385Tyr) c.13138G>T (p.Asp4380Tyr) c.13135G>T (p.Asp4379Tyr) c.13120G>T (p.Asp4374Tyr) c.13150G>T (p.Asp4384Tyr) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38565488A>C | CA405673762 | RYR1 | c.90A>C c.1564A>C c.1546A>C c.13154A>C (p.Asp4385Ala) c.13139A>C (p.Asp4380Ala) c.13136A>C (p.Asp4379Ala) c.13121A>C (p.Asp4374Ala) c.13151A>C (p.Asp4384Ala) | |
| 19 | g.38565488A>G | CA405673768 | RYR1 | c.90A>G c.1564A>G c.1546A>G c.13154A>G (p.Asp4385Gly) c.13139A>G (p.Asp4380Gly) c.13136A>G (p.Asp4379Gly) c.13121A>G (p.Asp4374Gly) c.13151A>G (p.Asp4384Gly) | gnomAD v4 |
| 19 | g.38565488A>T | CA405673770 | RYR1 | c.90A>T c.1564A>T c.1546A>T c.13154A>T (p.Asp4385Val) c.13139A>T (p.Asp4380Val) c.13136A>T (p.Asp4379Val) c.13121A>T (p.Asp4374Val) c.13151A>T (p.Asp4384Val) | |
| 19 | g.38565489C>A | CA405673777 | RYR1 | c.91C>A c.1565C>A c.1547C>A c.13155C>A (p.Asp4385Glu) c.13140C>A (p.Asp4380Glu) c.13137C>A (p.Asp4379Glu) c.13122C>A (p.Asp4374Glu) c.13152C>A (p.Asp4384Glu) | gnomAD v4 |
| 19 | g.38565489C>G | CA405673780 | RYR1 | c.91C>G c.1565C>G c.1547C>G c.13155C>G (p.Asp4385Glu) c.13140C>G (p.Asp4380Glu) c.13137C>G (p.Asp4379Glu) c.13122C>G (p.Asp4374Glu) c.13152C>G (p.Asp4384Glu) | |
| 19 | g.38565489C>T | CA080795 | RYR1 | c.91C>T c.1565C>T c.1547C>T c.13155C>T (p.Asp4385=) c.13140C>T (p.Asp4380=) c.13137C>T (p.Asp4379=) c.13122C>T (p.Asp4374=) c.13152C>T (p.Asp4384=) | gnomAD v4 |
| 19 | g.38565492del | CA2584909153 | RYR1 | c.94del c.1568del c.1550del c.13158del (p.Thr4387ProfsTer?) c.13143del (p.Thr4382ProfsTer?) c.13140del (p.Thr4381ProfsTer?) c.13125del (p.Thr4376ProfsTer?) c.13155del (p.Thr4386ProfsTer?) | gnomAD v4 |
| 19 | g.38565490C>A | CA405673800 | RYR1 | c.92C>A c.1566C>A c.1548C>A c.13156C>A (p.Pro4386Thr) c.13141C>A (p.Pro4381Thr) c.13138C>A (p.Pro4380Thr) c.13123C>A (p.Pro4375Thr) c.13153C>A (p.Pro4385Thr) | gnomAD v4 |
| 19 | g.38565490C= | CA2335084910 | RYR1 | c.92C= c.1566C= c.1548C= c.13156C= (p.Pro4386=) c.13141C= (p.Pro4381=) c.13138C= (p.Pro4380=) c.13123C= (p.Pro4375=) c.13153C= (p.Pro4385=) | |
| 19 | g.38565490C>G | CA405673796 | RYR1 | c.92C>G c.1566C>G c.1548C>G c.13156C>G (p.Pro4386Ala) c.13141C>G (p.Pro4381Ala) c.13138C>G (p.Pro4380Ala) c.13123C>G (p.Pro4375Ala) c.13153C>G (p.Pro4385Ala) | |
| 19 | g.38565490C>T | CA405673783 | RYR1 | c.92C>T c.1566C>T c.1548C>T c.13156C>T (p.Pro4386Ser) c.13141C>T (p.Pro4381Ser) c.13138C>T (p.Pro4380Ser) c.13123C>T (p.Pro4375Ser) c.13153C>T (p.Pro4385Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38565491C>A | CA405673803 | RYR1 | c.93C>A c.1567C>A c.1549C>A c.13157C>A (p.Pro4386His) c.13142C>A (p.Pro4381His) c.13139C>A (p.Pro4380His) c.13124C>A (p.Pro4375His) c.13154C>A (p.Pro4385His) | gnomAD v4 |
| 19 | g.38565491C>G | CA405673806 | RYR1 | c.93C>G c.1567C>G c.1549C>G c.13157C>G (p.Pro4386Arg) c.13142C>G (p.Pro4381Arg) c.13139C>G (p.Pro4380Arg) c.13124C>G (p.Pro4375Arg) c.13154C>G (p.Pro4385Arg) | gnomAD v4 |
| 19 | g.38565491C>T | CA405673807 | RYR1 | c.93C>T c.1567C>T c.1549C>T c.13157C>T (p.Pro4386Leu) c.13142C>T (p.Pro4381Leu) c.13139C>T (p.Pro4380Leu) c.13124C>T (p.Pro4375Leu) c.13154C>T (p.Pro4385Leu) | gnomAD v4 |
| 19 | g.38565492C>A | CA507355736 | RYR1 | c.94C>A c.1568C>A c.1550C>A c.13158C>A (p.Pro4386=) c.13143C>A (p.Pro4381=) c.13140C>A (p.Pro4380=) c.13125C>A (p.Pro4375=) c.13155C>A (p.Pro4385=) | gnomAD v4 |
| 19 | g.38565492C>G | CA507355737 | RYR1 | c.94C>G c.1568C>G c.1550C>G c.13158C>G (p.Pro4386=) c.13143C>G (p.Pro4381=) c.13140C>G (p.Pro4380=) c.13125C>G (p.Pro4375=) c.13155C>G (p.Pro4385=) | gnomAD v4 |
| 19 | g.38565492C>T | CA507355738 | RYR1 | c.94C>T c.1568C>T c.1550C>T c.13158C>T (p.Pro4386=) c.13143C>T (p.Pro4381=) c.13140C>T (p.Pro4380=) c.13125C>T (p.Pro4375=) c.13155C>T (p.Pro4385=) | ClinVar gnomAD v4 |
| 19 | g.38565493A>C | CA405673808 | RYR1 | c.95A>C c.1569A>C c.1551A>C c.13159A>C (p.Thr4387Pro) c.13144A>C (p.Thr4382Pro) c.13141A>C (p.Thr4381Pro) c.13126A>C (p.Thr4376Pro) c.13156A>C (p.Thr4386Pro) | gnomAD v4 |
| 19 | g.38565493A>G | CA405673809 | RYR1 | c.95A>G c.1569A>G c.1551A>G c.13159A>G (p.Thr4387Ala) c.13144A>G (p.Thr4382Ala) c.13141A>G (p.Thr4381Ala) c.13126A>G (p.Thr4376Ala) c.13156A>G (p.Thr4386Ala) | gnomAD v4 |
| 19 | g.38565493A>T | CA405673810 | RYR1 | c.95A>T c.1569A>T c.1551A>T c.13159A>T (p.Thr4387Ser) c.13144A>T (p.Thr4382Ser) c.13141A>T (p.Thr4381Ser) c.13126A>T (p.Thr4376Ser) c.13156A>T (p.Thr4386Ser) | gnomAD v4 |
| 19 | g.38565494C>A | CA405673811 | RYR1 | c.96C>A c.1570C>A c.1552C>A c.13160C>A (p.Thr4387Asn) c.13145C>A (p.Thr4382Asn) c.13142C>A (p.Thr4381Asn) c.13127C>A (p.Thr4376Asn) c.13157C>A (p.Thr4386Asn) | gnomAD v4 |
| 19 | g.38565494C= | CA2335084911 | RYR1 | c.96C= c.1570C= c.1552C= c.13160C= (p.Thr4387=) c.13145C= (p.Thr4382=) c.13142C= (p.Thr4381=) c.13127C= (p.Thr4376=) c.13157C= (p.Thr4386=) | |
| 19 | g.38565494C>G | CA405673813 | RYR1 | c.96C>G c.1570C>G c.1552C>G c.13160C>G (p.Thr4387Ser) c.13145C>G (p.Thr4382Ser) c.13142C>G (p.Thr4381Ser) c.13127C>G (p.Thr4376Ser) c.13157C>G (p.Thr4386Ser) | gnomAD v4 |
| 19 | g.38565494C>T | CA405673815 | RYR1 | c.96C>T c.1570C>T c.1552C>T c.13160C>T (p.Thr4387Ile) c.13145C>T (p.Thr4382Ile) c.13142C>T (p.Thr4381Ile) c.13127C>T (p.Thr4376Ile) c.13157C>T (p.Thr4386Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38565495C>A | CA507355741 | RYR1 | c.97C>A c.1571C>A c.1553C>A c.13161C>A (p.Thr4387=) c.13146C>A (p.Thr4382=) c.13143C>A (p.Thr4381=) c.13128C>A (p.Thr4376=) c.13158C>A (p.Thr4386=) | gnomAD v4 |
| 19 | g.38565495C= | CA2335084912 | RYR1 | c.97C= c.1571C= c.1553C= c.13161C= (p.Thr4387=) c.13146C= (p.Thr4382=) c.13143C= (p.Thr4381=) c.13128C= (p.Thr4376=) c.13158C= (p.Thr4386=) | |
| 19 | g.38565495C>G | CA507355742 | RYR1 | c.97C>G c.1571C>G c.1553C>G c.13161C>G (p.Thr4387=) c.13146C>G (p.Thr4382=) c.13143C>G (p.Thr4381=) c.13128C>G (p.Thr4376=) c.13158C>G (p.Thr4386=) | gnomAD v4 |
| 19 | g.38565495C>T | CA507355743 | RYR1 | c.97C>T c.1571C>T c.1553C>T c.13161C>T (p.Thr4387=) c.13146C>T (p.Thr4382=) c.13143C>T (p.Thr4381=) c.13128C>T (p.Thr4376=) c.13158C>T (p.Thr4386=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38565496A= | CA2335084913 | RYR1 | c.98A= c.1572A= c.1554A= c.13162A= (p.Ser4388=) c.13147A= (p.Ser4383=) c.13144A= (p.Ser4382=) c.13129A= (p.Ser4377=) c.13159A= (p.Ser4387=) | |
| 19 | g.38565496A>C | CA405673828 | RYR1 | c.98A>C c.1572A>C c.1554A>C c.13162A>C (p.Ser4388Arg) c.13147A>C (p.Ser4383Arg) c.13144A>C (p.Ser4382Arg) c.13129A>C (p.Ser4377Arg) c.13159A>C (p.Ser4387Arg) | dbSNP |
| 19 | g.38565496A>G | CA405673830 | RYR1 | c.98A>G c.1572A>G c.1554A>G c.13162A>G (p.Ser4388Gly) c.13147A>G (p.Ser4383Gly) c.13144A>G (p.Ser4382Gly) c.13129A>G (p.Ser4377Gly) c.13159A>G (p.Ser4387Gly) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38565496A>T | CA405673833 | RYR1 | c.98A>T c.1572A>T c.1554A>T c.13162A>T (p.Ser4388Cys) c.13147A>T (p.Ser4383Cys) c.13144A>T (p.Ser4382Cys) c.13129A>T (p.Ser4377Cys) c.13159A>T (p.Ser4387Cys) | |
| 19 | g.38565497G>A | CA405673849 | RYR1 | c.99G>A c.1573G>A c.1555G>A c.13163G>A (p.Ser4388Asn) c.13148G>A (p.Ser4383Asn) c.13145G>A (p.Ser4382Asn) c.13130G>A (p.Ser4377Asn) c.13160G>A (p.Ser4387Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38565497G>C | CA405673856 | RYR1 | c.99G>C c.1573G>C c.1555G>C c.13163G>C (p.Ser4388Thr) c.13148G>C (p.Ser4383Thr) c.13145G>C (p.Ser4382Thr) c.13130G>C (p.Ser4377Thr) c.13160G>C (p.Ser4387Thr) | |
| 19 | g.38565497G= | CA2335084914 | RYR1 | c.99G= c.1573G= c.1555G= c.13163G= (p.Ser4388=) c.13148G= (p.Ser4383=) c.13145G= (p.Ser4382=) c.13130G= (p.Ser4377=) c.13160G= (p.Ser4387=) | |
| 19 | g.38565497G>T | CA405673848 | RYR1 | c.99G>T c.1573G>T c.1555G>T c.13163G>T (p.Ser4388Ile) c.13148G>T (p.Ser4383Ile) c.13145G>T (p.Ser4382Ile) c.13130G>T (p.Ser4377Ile) c.13160G>T (p.Ser4387Ile) | dbSNP gnomAD v4 |
| 19 | g.38565498C>A | CA405673860 | RYR1 | c.100C>A c.1574C>A c.1556C>A c.13164C>A (p.Ser4388Arg) c.13149C>A (p.Ser4383Arg) c.13146C>A (p.Ser4382Arg) c.13131C>A (p.Ser4377Arg) c.13161C>A (p.Ser4387Arg) | gnomAD v4 |
| 19 | g.38565498C= | CA2335084915 | RYR1 | c.100C= c.1574C= c.1556C= c.13164C= (p.Ser4388=) c.13149C= (p.Ser4383=) c.13146C= (p.Ser4382=) c.13131C= (p.Ser4377=) c.13161C= (p.Ser4387=) | |
| 19 | g.38565498C>G | CA405673877 | RYR1 | c.100C>G c.1574C>G c.1556C>G c.13164C>G (p.Ser4388Arg) c.13149C>G (p.Ser4383Arg) c.13146C>G (p.Ser4382Arg) c.13131C>G (p.Ser4377Arg) c.13161C>G (p.Ser4387Arg) | |
| 19 | g.38565498C>T | CA507355747 | RYR1 | c.100C>T c.1574C>T c.1556C>T c.13164C>T (p.Ser4388=) c.13149C>T (p.Ser4383=) c.13146C>T (p.Ser4382=) c.13131C>T (p.Ser4377=) c.13161C>T (p.Ser4387=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38565499G>A | CA059610 | RYR1 | c.101G>A c.1575G>A c.1557G>A c.13165G>A (p.Asp4389Asn) c.13150G>A (p.Asp4384Asn) c.13147G>A (p.Asp4383Asn) c.13132G>A (p.Asp4378Asn) c.13162G>A (p.Asp4388Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38565499G>C | CA405673890 | RYR1 | c.101G>C c.1575G>C c.1557G>C c.13165G>C (p.Asp4389His) c.13150G>C (p.Asp4384His) c.13147G>C (p.Asp4383His) c.13132G>C (p.Asp4378His) c.13162G>C (p.Asp4388His) | gnomAD v4 |
| 19 | g.38565499G= | CA2335084916 | RYR1 | c.101G= c.1575G= c.1557G= c.13165G= (p.Asp4389=) c.13150G= (p.Asp4384=) c.13147G= (p.Asp4383=) c.13132G= (p.Asp4378=) c.13162G= (p.Asp4388=) | |
| 19 | g.38565499G>T | CA405673893 | RYR1 | c.101G>T c.1575G>T c.1557G>T c.13165G>T (p.Asp4389Tyr) c.13150G>T (p.Asp4384Tyr) c.13147G>T (p.Asp4383Tyr) c.13132G>T (p.Asp4378Tyr) c.13162G>T (p.Asp4388Tyr) | |
| 19 | g.38565500A>C | CA405673897 | RYR1 | c.102A>C c.1576A>C c.1558A>C c.13166A>C (p.Asp4389Ala) c.13151A>C (p.Asp4384Ala) c.13148A>C (p.Asp4383Ala) c.13133A>C (p.Asp4378Ala) c.13163A>C (p.Asp4388Ala) | |
| 19 | g.38565500A>G | CA405673898 | RYR1 | c.102A>G c.1576A>G c.1558A>G c.13166A>G (p.Asp4389Gly) c.13151A>G (p.Asp4384Gly) c.13148A>G (p.Asp4383Gly) c.13133A>G (p.Asp4378Gly) c.13163A>G (p.Asp4388Gly) | gnomAD v4 |
| 19 | g.38565500A>T | CA405673899 | RYR1 | c.102A>T c.1576A>T c.1558A>T c.13166A>T (p.Asp4389Val) c.13151A>T (p.Asp4384Val) c.13148A>T (p.Asp4383Val) c.13133A>T (p.Asp4378Val) c.13163A>T (p.Asp4388Val) | |
| 19 | g.38565501C>A | CA405673900 | RYR1 | c.103C>A c.1577C>A c.1559C>A c.13167C>A (p.Asp4389Glu) c.13152C>A (p.Asp4384Glu) c.13149C>A (p.Asp4383Glu) c.13134C>A (p.Asp4378Glu) c.13164C>A (p.Asp4388Glu) | gnomAD v4 |
| 19 | g.38565501C>G | CA405673901 | RYR1 | c.103C>G c.1577C>G c.1559C>G c.13167C>G (p.Asp4389Glu) c.13152C>G (p.Asp4384Glu) c.13149C>G (p.Asp4383Glu) c.13134C>G (p.Asp4378Glu) c.13164C>G (p.Asp4388Glu) | |
| 19 | g.38565501C>T | CA507355751 | RYR1 | c.103C>T c.1577C>T c.1559C>T c.13167C>T (p.Asp4389=) c.13152C>T (p.Asp4384=) c.13149C>T (p.Asp4383=) c.13134C>T (p.Asp4378=) c.13164C>T (p.Asp4388=) | ClinVar gnomAD v4 |
| 19 | g.38565505_38565516dup | CA2584909154 | RYR1 | c.107_118dup c.1581_1592dup c.1563_1574dup c.13171_13182dup (p.Glu4394_Gln4395insValHisGlyGlu) c.13156_13167dup (p.Glu4389_Gln4390insValHisGlyGlu) c.13153_13164dup (p.Glu4388_Gln4389insValHisGlyGlu) c.13138_13149dup (p.Glu4383_Gln4384insValHisGlyGlu) c.13168_13179dup (p.Glu4393_Gln4394insValHisGlyGlu) | gnomAD v4 |
| 19 | g.38565502G>A | CA080798 | RYR1 | c.104G>A c.1578G>A c.1560G>A c.13168G>A (p.Glu4390Lys) c.13153G>A (p.Glu4385Lys) c.13150G>A (p.Glu4384Lys) c.13135G>A (p.Glu4379Lys) c.13165G>A (p.Glu4389Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38565502G>C | CA405673905 | RYR1 | c.104G>C c.1578G>C c.1560G>C c.13168G>C (p.Glu4390Gln) c.13153G>C (p.Glu4385Gln) c.13150G>C (p.Glu4384Gln) c.13135G>C (p.Glu4379Gln) c.13165G>C (p.Glu4389Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38565502G= | CA2335084917 | RYR1 | c.104G= c.1578G= c.1560G= c.13168G= (p.Glu4390=) c.13153G= (p.Glu4385=) c.13150G= (p.Glu4384=) c.13135G= (p.Glu4379=) c.13165G= (p.Glu4389=) | |
| 19 | g.38565502G>T | CA405673908 | RYR1 | c.104G>T c.1578G>T c.1560G>T c.13168G>T (p.Glu4390Ter) c.13153G>T (p.Glu4385Ter) c.13150G>T (p.Glu4384Ter) c.13135G>T (p.Glu4379Ter) c.13165G>T (p.Glu4389Ter) | gnomAD v4 |
| 19 | g.38565503A= | CA2335084918 | RYR1 | c.105A= c.1579A= c.1561A= c.13169A= (p.Glu4390=) c.13154A= (p.Glu4385=) c.13151A= (p.Glu4384=) c.13136A= (p.Glu4379=) c.13166A= (p.Glu4389=) | |
| 19 | g.38565503A>C | CA405673919 | RYR1 | c.105A>C c.1579A>C c.1561A>C c.13169A>C (p.Glu4390Ala) c.13154A>C (p.Glu4385Ala) c.13151A>C (p.Glu4384Ala) c.13136A>C (p.Glu4379Ala) c.13166A>C (p.Glu4389Ala) | |
| 19 | g.38565503A>G | CA405673915 | RYR1 | c.105A>G c.1579A>G c.1561A>G c.13169A>G (p.Glu4390Gly) c.13154A>G (p.Glu4385Gly) c.13151A>G (p.Glu4384Gly) c.13136A>G (p.Glu4379Gly) c.13166A>G (p.Glu4389Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38565503A>T | CA405673913 | RYR1 | c.105A>T c.1579A>T c.1561A>T c.13169A>T (p.Glu4390Val) c.13154A>T (p.Glu4385Val) c.13151A>T (p.Glu4384Val) c.13136A>T (p.Glu4379Val) c.13166A>T (p.Glu4389Val) | |
| 19 | g.38565504G>A | CA507355753 | RYR1 | c.106G>A c.1580G>A c.1562G>A c.13170G>A (p.Glu4390=) c.13155G>A (p.Glu4385=) c.13152G>A (p.Glu4384=) c.13137G>A (p.Glu4379=) c.13167G>A (p.Glu4389=) | gnomAD v4 |
| 19 | g.38565504G>C | CA405673926 | RYR1 | c.106G>C c.1580G>C c.1562G>C c.13170G>C (p.Glu4390Asp) c.13155G>C (p.Glu4385Asp) c.13152G>C (p.Glu4384Asp) c.13137G>C (p.Glu4379Asp) c.13167G>C (p.Glu4389Asp) | |
| 19 | g.38565504G>T | CA405673960 | RYR1 | c.106G>T c.1580G>T c.1562G>T c.13170G>T (p.Glu4390Asp) c.13155G>T (p.Glu4385Asp) c.13152G>T (p.Glu4384Asp) c.13137G>T (p.Glu4379Asp) c.13167G>T (p.Glu4389Asp) | gnomAD v4 |
| 19 | g.38565505G>A | CA405673963 | RYR1 | c.107G>A c.1581G>A c.1563G>A c.13171G>A (p.Val4391Met) c.13156G>A (p.Val4386Met) c.13153G>A (p.Val4385Met) c.13138G>A (p.Val4380Met) c.13168G>A (p.Val4390Met) | gnomAD v4 |
| 19 | g.38565505G>C | CA405673967 | RYR1 | c.107G>C c.1581G>C c.1563G>C c.13171G>C (p.Val4391Leu) c.13156G>C (p.Val4386Leu) c.13153G>C (p.Val4385Leu) c.13138G>C (p.Val4380Leu) c.13168G>C (p.Val4390Leu) | |
| 19 | g.38565505G>T | CA405673974 | RYR1 | c.107G>T c.1581G>T c.1563G>T c.13171G>T (p.Val4391Leu) c.13156G>T (p.Val4386Leu) c.13153G>T (p.Val4385Leu) c.13138G>T (p.Val4380Leu) c.13168G>T (p.Val4390Leu) | gnomAD v4 |
| 19 | g.38565506T>A | CA405673977 | RYR1 | c.108T>A c.1582T>A c.1564T>A c.13172T>A (p.Val4391Glu) c.13157T>A (p.Val4386Glu) c.13154T>A (p.Val4385Glu) c.13139T>A (p.Val4380Glu) c.13169T>A (p.Val4390Glu) | |
| 19 | g.38565506T>C | CA405673980 | RYR1 | c.108T>C c.1582T>C c.1564T>C c.13172T>C (p.Val4391Ala) c.13157T>C (p.Val4386Ala) c.13154T>C (p.Val4385Ala) c.13139T>C (p.Val4380Ala) c.13169T>C (p.Val4390Ala) | gnomAD v4 |
| 19 | g.38565506T>G | CA405673982 | RYR1 | c.108T>G c.1582T>G c.1564T>G c.13172T>G (p.Val4391Gly) c.13157T>G (p.Val4386Gly) c.13154T>G (p.Val4385Gly) c.13139T>G (p.Val4380Gly) c.13169T>G (p.Val4390Gly) | |
| 19 | g.38565507G>A | CA507355759 | RYR1 | c.109G>A c.1583G>A c.1565G>A c.13173G>A (p.Val4391=) c.13158G>A (p.Val4386=) c.13155G>A (p.Val4385=) c.13140G>A (p.Val4380=) c.13170G>A (p.Val4390=) | gnomAD v4 |
| 19 | g.38565507G>C | CA308109512 | RYR1 | c.109G>C c.1583G>C c.1565G>C c.13173G>C (p.Val4391=) c.13158G>C (p.Val4386=) c.13155G>C (p.Val4385=) c.13140G>C (p.Val4380=) c.13170G>C (p.Val4390=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38565507G= | CA2335084919 | RYR1 | c.109G= c.1583G= c.1565G= c.13173G= (p.Val4391=) c.13158G= (p.Val4386=) c.13155G= (p.Val4385=) c.13140G= (p.Val4380=) c.13170G= (p.Val4390=) | |
| 19 | g.38565507G>T | CA507355761 | RYR1 | c.109G>T c.1583G>T c.1565G>T c.13173G>T (p.Val4391=) c.13158G>T (p.Val4386=) c.13155G>T (p.Val4385=) c.13140G>T (p.Val4380=) c.13170G>T (p.Val4390=) | gnomAD v4 |
| 19 | g.38565508C>A | CA405673990 | RYR1 | c.110C>A c.1584C>A c.1566C>A c.13174C>A (p.His4392Asn) c.13159C>A (p.His4387Asn) c.13156C>A (p.His4386Asn) c.13141C>A (p.His4381Asn) c.13171C>A (p.His4391Asn) | gnomAD v4 |
| 19 | g.38565508C= | CA2335084920 | RYR1 | c.110C= c.1584C= c.1566C= c.13174C= (p.His4392=) c.13159C= (p.His4387=) c.13156C= (p.His4386=) c.13141C= (p.His4381=) c.13171C= (p.His4391=) | |
| 19 | g.38565508C>G | CA405674007 | RYR1 | c.110C>G c.1584C>G c.1566C>G c.13174C>G (p.His4392Asp) c.13159C>G (p.His4387Asp) c.13156C>G (p.His4386Asp) c.13141C>G (p.His4381Asp) c.13171C>G (p.His4391Asp) | gnomAD v4 |
| 19 | g.38565508C>T | CA405674010 | RYR1 | c.110C>T c.1584C>T c.1566C>T c.13174C>T (p.His4392Tyr) c.13159C>T (p.His4387Tyr) c.13156C>T (p.His4386Tyr) c.13141C>T (p.His4381Tyr) c.13171C>T (p.His4391Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38565509A= | CA2335084921 | RYR1 | c.111A= c.1585A= c.1567A= c.13175A= (p.His4392=) c.13160A= (p.His4387=) c.13157A= (p.His4386=) c.13142A= (p.His4381=) c.13172A= (p.His4391=) | |
| 19 | g.38565509A>C | CA405674014 | RYR1 | c.111A>C c.1585A>C c.1567A>C c.13175A>C (p.His4392Pro) c.13160A>C (p.His4387Pro) c.13157A>C (p.His4386Pro) c.13142A>C (p.His4381Pro) c.13172A>C (p.His4391Pro) | gnomAD v4 |
| 19 | g.38565509A>G | CA405674017 | RYR1 | c.111A>G c.1585A>G c.1567A>G c.13175A>G (p.His4392Arg) c.13160A>G (p.His4387Arg) c.13157A>G (p.His4386Arg) c.13142A>G (p.His4381Arg) c.13172A>G (p.His4391Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38565509A>T | CA405674015 | RYR1 | c.111A>T c.1585A>T c.1567A>T c.13175A>T (p.His4392Leu) c.13160A>T (p.His4387Leu) c.13157A>T (p.His4386Leu) c.13142A>T (p.His4381Leu) c.13172A>T (p.His4391Leu) | |
| 19 | g.38565509_38565519del | CA2697556508 | RYR1 | c.111_121del c.1585_1595del c.1567_1577del c.13175_13185del (p.His4392ProfsTer?) c.13160_13170del (p.His4387ProfsTer?) c.13157_13167del (p.His4386ProfsTer?) c.13142_13152del (p.His4381ProfsTer?) c.13172_13182del (p.His4391ProfsTer?) | ClinVar |
| 19 | g.38565510C>A | CA405674021 | RYR1 | c.112C>A c.1586C>A c.1568C>A c.13176C>A (p.His4392Gln) c.13161C>A (p.His4387Gln) c.13158C>A (p.His4386Gln) c.13143C>A (p.His4381Gln) c.13173C>A (p.His4391Gln) | gnomAD v4 |
| 19 | g.38565510C= | CA2335084922 | RYR1 | c.112C= c.1586C= c.1568C= c.13176C= (p.His4392=) c.13161C= (p.His4387=) c.13158C= (p.His4386=) c.13143C= (p.His4381=) c.13173C= (p.His4391=) | |
| 19 | g.38565510C>G | CA405674024 | RYR1 | c.112C>G c.1586C>G c.1568C>G c.13176C>G (p.His4392Gln) c.13161C>G (p.His4387Gln) c.13158C>G (p.His4386Gln) c.13143C>G (p.His4381Gln) c.13173C>G (p.His4391Gln) | |
| 19 | g.38565510C>T | CA507355766 | RYR1 | c.112C>T c.1586C>T c.1568C>T c.13176C>T (p.His4392=) c.13161C>T (p.His4387=) c.13158C>T (p.His4386=) c.13143C>T (p.His4381=) c.13173C>T (p.His4391=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38565511G>A | CA405674028 | RYR1 | c.113G>A c.1587G>A c.1569G>A c.13177G>A (p.Gly4393Ser) c.13162G>A (p.Gly4388Ser) c.13159G>A (p.Gly4387Ser) c.13144G>A (p.Gly4382Ser) c.13174G>A (p.Gly4392Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38565511G>C | CA405674030 | RYR1 | c.113G>C c.1587G>C c.1569G>C c.13177G>C (p.Gly4393Arg) c.13162G>C (p.Gly4388Arg) c.13159G>C (p.Gly4387Arg) c.13144G>C (p.Gly4382Arg) c.13174G>C (p.Gly4392Arg) | |
| 19 | g.38565511G= | CA2335084923 | RYR1 | c.113G= c.1587G= c.1569G= c.13177G= (p.Gly4393=) c.13162G= (p.Gly4388=) c.13159G= (p.Gly4387=) c.13144G= (p.Gly4382=) c.13174G= (p.Gly4392=) | |
| 19 | g.38565511G>T | CA405674032 | RYR1 | c.113G>T c.1587G>T c.1569G>T c.13177G>T (p.Gly4393Cys) c.13162G>T (p.Gly4388Cys) c.13159G>T (p.Gly4387Cys) c.13144G>T (p.Gly4382Cys) c.13174G>T (p.Gly4392Cys) | dbSNP gnomAD v4 |
| 19 | g.38565512G>A | CA405674034 | RYR1 | c.114G>A c.1588G>A c.1570G>A c.13178G>A (p.Gly4393Asp) c.13163G>A (p.Gly4388Asp) c.13160G>A (p.Gly4387Asp) c.13145G>A (p.Gly4382Asp) c.13175G>A (p.Gly4392Asp) | gnomAD v4 |
| 19 | g.38565512G>C | CA405674035 | RYR1 | c.114G>C c.1588G>C c.1570G>C c.13178G>C (p.Gly4393Ala) c.13163G>C (p.Gly4388Ala) c.13160G>C (p.Gly4387Ala) c.13145G>C (p.Gly4382Ala) c.13175G>C (p.Gly4392Ala) | |
| 19 | g.38565512G>T | CA405674037 | RYR1 | c.114G>T c.1588G>T c.1570G>T c.13178G>T (p.Gly4393Val) c.13163G>T (p.Gly4388Val) c.13160G>T (p.Gly4387Val) c.13145G>T (p.Gly4382Val) c.13175G>T (p.Gly4392Val) | |
| 19 | g.38565514_38565520dup | CA2584909155 | RYR1 | c.116_122dup c.1590_1596dup c.1572_1578dup c.13180_13186dup (p.Pro4396ArgfsTer?) c.13165_13171dup (p.Pro4391ArgfsTer?) c.13162_13168dup (p.Pro4390ArgfsTer?) c.13147_13153dup (p.Pro4385ArgfsTer?) c.13177_13183dup (p.Pro4395ArgfsTer?) | gnomAD v4 |
| 19 | g.38565513C>A | CA507355770 | RYR1 | c.115C>A c.1589C>A c.1571C>A c.13179C>A (p.Gly4393=) c.13164C>A (p.Gly4388=) c.13161C>A (p.Gly4387=) c.13146C>A (p.Gly4382=) c.13176C>A (p.Gly4392=) | gnomAD v4 |
| 19 | g.38565513C>G | CA507355771 | RYR1 | c.115C>G c.1589C>G c.1571C>G c.13179C>G (p.Gly4393=) c.13164C>G (p.Gly4388=) c.13161C>G (p.Gly4387=) c.13146C>G (p.Gly4382=) c.13176C>G (p.Gly4392=) | |
| 19 | g.38565513C>T | CA507355772 | RYR1 | c.115C>T c.1589C>T c.1571C>T c.13179C>T (p.Gly4393=) c.13164C>T (p.Gly4388=) c.13161C>T (p.Gly4387=) c.13146C>T (p.Gly4382=) c.13176C>T (p.Gly4392=) | gnomAD v4 |
| 19 | g.38565514G>A | CA059617 | RYR1 | c.116G>A c.1590G>A c.1572G>A c.13180G>A (p.Glu4394Lys) c.13165G>A (p.Glu4389Lys) c.13162G>A (p.Glu4388Lys) c.13147G>A (p.Glu4383Lys) c.13177G>A (p.Glu4393Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38565514G>C | CA405674040 | RYR1 | c.116G>C c.1590G>C c.1572G>C c.13180G>C (p.Glu4394Gln) c.13165G>C (p.Glu4389Gln) c.13162G>C (p.Glu4388Gln) c.13147G>C (p.Glu4383Gln) c.13177G>C (p.Glu4393Gln) | |
| 19 | g.38565514G= | CA2335084924 | RYR1 | c.116G= c.1590G= c.1572G= c.13180G= (p.Glu4394=) c.13165G= (p.Glu4389=) c.13162G= (p.Glu4388=) c.13147G= (p.Glu4383=) c.13177G= (p.Glu4393=) | |
| 19 | g.38565514G>T | CA405674046 | RYR1 | c.116G>T c.1590G>T c.1572G>T c.13180G>T (p.Glu4394Ter) c.13165G>T (p.Glu4389Ter) c.13162G>T (p.Glu4388Ter) c.13147G>T (p.Glu4383Ter) c.13177G>T (p.Glu4393Ter) | gnomAD v4 |
| 19 | g.38565515A>C | CA405674050 | RYR1 | c.117A>C c.1591A>C c.1573A>C c.13181A>C (p.Glu4394Ala) c.13166A>C (p.Glu4389Ala) c.13163A>C (p.Glu4388Ala) c.13148A>C (p.Glu4383Ala) c.13178A>C (p.Glu4393Ala) | |
| 19 | g.38565515A>G | CA405674063 | RYR1 | c.117A>G c.1591A>G c.1573A>G c.13181A>G (p.Glu4394Gly) c.13166A>G (p.Glu4389Gly) c.13163A>G (p.Glu4388Gly) c.13148A>G (p.Glu4383Gly) c.13178A>G (p.Glu4393Gly) | gnomAD v4 |
| 19 | g.38565515A>T | CA405674066 | RYR1 | c.117A>T c.1591A>T c.1573A>T c.13181A>T (p.Glu4394Val) c.13166A>T (p.Glu4389Val) c.13163A>T (p.Glu4388Val) c.13148A>T (p.Glu4383Val) c.13178A>T (p.Glu4393Val) | |
| 19 | g.38565516G>A | CA507355776 | RYR1 | c.118G>A c.1592G>A c.1574G>A c.13182G>A (p.Glu4394=) c.13167G>A (p.Glu4389=) c.13164G>A (p.Glu4388=) c.13149G>A (p.Glu4383=) c.13179G>A (p.Glu4393=) | gnomAD v4 |
| 19 | g.38565516G>C | CA405674068 | RYR1 | c.118G>C c.1592G>C c.1574G>C c.13182G>C (p.Glu4394Asp) c.13167G>C (p.Glu4389Asp) c.13164G>C (p.Glu4388Asp) c.13149G>C (p.Glu4383Asp) c.13179G>C (p.Glu4393Asp) | |
| 19 | g.38565516G>T | CA405674073 | RYR1 | c.118G>T c.1592G>T c.1574G>T c.13182G>T (p.Glu4394Asp) c.13167G>T (p.Glu4389Asp) c.13164G>T (p.Glu4388Asp) c.13149G>T (p.Glu4383Asp) c.13179G>T (p.Glu4393Asp) | |
| 19 | g.38565517C>A | CA405674076 | RYR1 | c.119C>A c.1593C>A c.1575C>A c.13183C>A (p.Gln4395Lys) c.13168C>A (p.Gln4390Lys) c.13165C>A (p.Gln4389Lys) c.13150C>A (p.Gln4384Lys) c.13180C>A (p.Gln4394Lys) | gnomAD v4 |
| 19 | g.38565517C>G | CA405674089 | RYR1 | c.119C>G c.1593C>G c.1575C>G c.13183C>G (p.Gln4395Glu) c.13168C>G (p.Gln4390Glu) c.13165C>G (p.Gln4389Glu) c.13150C>G (p.Gln4384Glu) c.13180C>G (p.Gln4394Glu) | |
| 19 | g.38565517C>T | CA405674085 | RYR1 | c.119C>T c.1593C>T c.1575C>T c.13183C>T (p.Gln4395Ter) c.13168C>T (p.Gln4390Ter) c.13165C>T (p.Gln4389Ter) c.13150C>T (p.Gln4384Ter) c.13180C>T (p.Gln4394Ter) | gnomAD v4 |
| 19 | g.38565518A= | CA2335084925 | RYR1 | c.120A= c.1594A= c.1576A= c.13184A= (p.Gln4395=) c.13169A= (p.Gln4390=) c.13166A= (p.Gln4389=) c.13151A= (p.Gln4384=) c.13181A= (p.Gln4394=) | |
| 19 | g.38565518A>C | CA405674092 | RYR1 | c.120A>C c.1594A>C c.1576A>C c.13184A>C (p.Gln4395Pro) c.13169A>C (p.Gln4390Pro) c.13166A>C (p.Gln4389Pro) c.13151A>C (p.Gln4384Pro) c.13181A>C (p.Gln4394Pro) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38565518A>G | CA405674095 | RYR1 | c.120A>G c.1594A>G c.1576A>G c.13184A>G (p.Gln4395Arg) c.13169A>G (p.Gln4390Arg) c.13166A>G (p.Gln4389Arg) c.13151A>G (p.Gln4384Arg) c.13181A>G (p.Gln4394Arg) | dbSNP |
| 19 | g.38565518A>T | CA405674100 | RYR1 | c.120A>T c.1594A>T c.1576A>T c.13184A>T (p.Gln4395Leu) c.13169A>T (p.Gln4390Leu) c.13166A>T (p.Gln4389Leu) c.13151A>T (p.Gln4384Leu) c.13181A>T (p.Gln4394Leu) | |
| 19 | g.38565519G>A | CA507355777 | RYR1 | c.121G>A c.1595G>A c.1577G>A c.13185G>A (p.Gln4395=) c.13170G>A (p.Gln4390=) c.13167G>A (p.Gln4389=) c.13152G>A (p.Gln4384=) c.13182G>A (p.Gln4394=) | gnomAD v4 |
| 19 | g.38565519G>C | CA405674103 | RYR1 | c.121G>C c.1595G>C c.1577G>C c.13185G>C (p.Gln4395His) c.13170G>C (p.Gln4390His) c.13167G>C (p.Gln4389His) c.13152G>C (p.Gln4384His) c.13182G>C (p.Gln4394His) | |
| 19 | g.38565519G= | CA2335084926 | RYR1 | c.121G= c.1595G= c.1577G= c.13185G= (p.Gln4395=) c.13170G= (p.Gln4390=) c.13167G= (p.Gln4389=) c.13152G= (p.Gln4384=) c.13182G= (p.Gln4394=) | |
| 19 | g.38565519G>T | CA405674120 | RYR1 | c.121G>T c.1595G>T c.1577G>T c.13185G>T (p.Gln4395His) c.13170G>T (p.Gln4390His) c.13167G>T (p.Gln4389His) c.13152G>T (p.Gln4384His) c.13182G>T (p.Gln4394His) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38565520C>A | CA405674121 | RYR1 | c.122C>A c.1596C>A c.1578C>A c.13186C>A (p.Pro4396Thr) c.13171C>A (p.Pro4391Thr) c.13168C>A (p.Pro4390Thr) c.13153C>A (p.Pro4385Thr) c.13183C>A (p.Pro4395Thr) | gnomAD v4 |
| 19 | g.38565520C>G | CA405674122 | RYR1 | c.122C>G c.1596C>G c.1578C>G c.13186C>G (p.Pro4396Ala) c.13171C>G (p.Pro4391Ala) c.13168C>G (p.Pro4390Ala) c.13153C>G (p.Pro4385Ala) c.13183C>G (p.Pro4395Ala) | gnomAD v4 |
| 19 | g.38565520C>T | CA405674125 | RYR1 | c.122C>T c.1596C>T c.1578C>T c.13186C>T (p.Pro4396Ser) c.13171C>T (p.Pro4391Ser) c.13168C>T (p.Pro4390Ser) c.13153C>T (p.Pro4385Ser) c.13183C>T (p.Pro4395Ser) | gnomAD v4 |
| 19 | g.38565521C>A | CA405674141 | RYR1 | c.123C>A c.1597C>A c.1579C>A c.13187C>A (p.Pro4396Gln) c.13172C>A (p.Pro4391Gln) c.13169C>A (p.Pro4390Gln) c.13154C>A (p.Pro4385Gln) c.13184C>A (p.Pro4395Gln) | gnomAD v4 |
| 19 | g.38565521C= | CA2335084927 | RYR1 | c.123C= c.1597C= c.1579C= c.13187C= (p.Pro4396=) c.13172C= (p.Pro4391=) c.13169C= (p.Pro4390=) c.13154C= (p.Pro4385=) c.13184C= (p.Pro4395=) | |
| 19 | g.38565521C>G | CA405674148 | RYR1 | c.123C>G c.1597C>G c.1579C>G c.13187C>G (p.Pro4396Arg) c.13172C>G (p.Pro4391Arg) c.13169C>G (p.Pro4390Arg) c.13154C>G (p.Pro4385Arg) c.13184C>G (p.Pro4395Arg) | |
| 19 | g.38565521C>T | CA405674150 | RYR1 | c.123C>T c.1597C>T c.1579C>T c.13187C>T (p.Pro4396Leu) c.13172C>T (p.Pro4391Leu) c.13169C>T (p.Pro4390Leu) c.13154C>T (p.Pro4385Leu) c.13184C>T (p.Pro4395Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38565522G>A | CA10587332 | RYR1 | c.124G>A c.1598G>A c.1580G>A c.13188G>A (p.Pro4396=) c.13173G>A (p.Pro4391=) c.13170G>A (p.Pro4390=) c.13155G>A (p.Pro4385=) c.13185G>A (p.Pro4395=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38565522G>C | CA507355781 | RYR1 | c.124G>C c.1598G>C c.1580G>C c.13188G>C (p.Pro4396=) c.13173G>C (p.Pro4391=) c.13170G>C (p.Pro4390=) c.13155G>C (p.Pro4385=) c.13185G>C (p.Pro4395=) | |
| 19 | g.38565522G= | CA2335084928 | RYR1 | c.124G= c.1598G= c.1580G= c.13188G= (p.Pro4396=) c.13173G= (p.Pro4391=) c.13170G= (p.Pro4390=) c.13155G= (p.Pro4385=) c.13185G= (p.Pro4395=) | |
| 19 | g.38565522G>T | CA507355782 | RYR1 | c.124G>T c.1598G>T c.1580G>T c.13188G>T (p.Pro4396=) c.13173G>T (p.Pro4391=) c.13170G>T (p.Pro4390=) c.13155G>T (p.Pro4385=) c.13185G>T (p.Pro4395=) | |
| 19 | g.38565530_38565534dup | CA2576772106 | RYR1 | c.132_136dup c.1606_1610dup c.1588_1592dup c.13196_13200dup (p.Gly4401ArgfsTer?) c.13181_13185dup (p.Gly4396ArgfsTer?) c.13178_13182dup (p.Gly4395ArgfsTer?) c.13163_13167dup (p.Gly4390ArgfsTer?) c.13193_13197dup (p.Gly4400ArgfsTer?) | gnomAD v4 |
| 19 | g.38565537_38565632del | CA2584909156 | RYR1 | c.139_234del c.1613_1708del c.1595_1690del c.13203_13298del (p.Asp4402_Gly4433del) c.13188_13283del (p.Asp4397_Gly4428del) c.13185_13280del (p.Asp4396_Gly4427del) c.13170_13265del (p.Asp4391_Gly4422del) c.13200_13295del (p.Asp4401_Gly4432del) | gnomAD v4 |
| 19 | g.38565523G>A | CA405674174 | RYR1 | c.125G>A c.1599G>A c.1581G>A c.13189G>A (p.Ala4397Thr) c.13174G>A (p.Ala4392Thr) c.13171G>A (p.Ala4391Thr) c.13156G>A (p.Ala4386Thr) c.13186G>A (p.Ala4396Thr) | dbSNP gnomAD v4 |
| 19 | g.38565523G>C | CA405674161 | RYR1 | c.125G>C c.1599G>C c.1581G>C c.13189G>C (p.Ala4397Pro) c.13174G>C (p.Ala4392Pro) c.13171G>C (p.Ala4391Pro) c.13156G>C (p.Ala4386Pro) c.13186G>C (p.Ala4396Pro) | |
| 19 | g.38565523G= | CA2335084929 | RYR1 | c.125G= c.1599G= c.1581G= c.13189G= (p.Ala4397=) c.13174G= (p.Ala4392=) c.13171G= (p.Ala4391=) c.13156G= (p.Ala4386=) c.13186G= (p.Ala4396=) | |
| 19 | g.38565523G>T | CA405674165 | RYR1 | c.125G>T c.1599G>T c.1581G>T c.13189G>T (p.Ala4397Ser) c.13174G>T (p.Ala4392Ser) c.13171G>T (p.Ala4391Ser) c.13156G>T (p.Ala4386Ser) c.13186G>T (p.Ala4396Ser) | gnomAD v4 |
| 19 | g.38565524C>A | CA405674175 | RYR1 | c.126C>A c.1600C>A c.1582C>A c.13190C>A (p.Ala4397Asp) c.13175C>A (p.Ala4392Asp) c.13172C>A (p.Ala4391Asp) c.13157C>A (p.Ala4386Asp) c.13187C>A (p.Ala4396Asp) | gnomAD v4 |
| 19 | g.38565524C= | CA2335084930 | RYR1 | c.126C= c.1600C= c.1582C= c.13190C= (p.Ala4397=) c.13175C= (p.Ala4392=) c.13172C= (p.Ala4391=) c.13157C= (p.Ala4386=) c.13187C= (p.Ala4396=) | |
| 19 | g.38565524C>G | CA16607802 | RYR1 | c.126C>G c.1600C>G c.1582C>G c.13190C>G (p.Ala4397Gly) c.13175C>G (p.Ala4392Gly) c.13172C>G (p.Ala4391Gly) c.13157C>G (p.Ala4386Gly) c.13187C>G (p.Ala4396Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38565524C>T | CA405674176 | RYR1 | c.126C>T c.1600C>T c.1582C>T c.13190C>T (p.Ala4397Val) c.13175C>T (p.Ala4392Val) c.13172C>T (p.Ala4391Val) c.13157C>T (p.Ala4386Val) c.13187C>T (p.Ala4396Val) | gnomAD v4 |
| 19 | g.38565525C>A | CA507355786 | RYR1 | c.127C>A c.1601C>A c.1583C>A c.13191C>A (p.Ala4397=) c.13176C>A (p.Ala4392=) c.13173C>A (p.Ala4391=) c.13158C>A (p.Ala4386=) c.13188C>A (p.Ala4396=) | gnomAD v4 |
| 19 | g.38565525C= | CA2335084931 | RYR1 | c.127C= c.1601C= c.1583C= c.13191C= (p.Ala4397=) c.13176C= (p.Ala4392=) c.13173C= (p.Ala4391=) c.13158C= (p.Ala4386=) c.13188C= (p.Ala4396=) | |
| 19 | g.38565525C>G | CA507355787 | RYR1 | c.127C>G c.1601C>G c.1583C>G c.13191C>G (p.Ala4397=) c.13176C>G (p.Ala4392=) c.13173C>G (p.Ala4391=) c.13158C>G (p.Ala4386=) c.13188C>G (p.Ala4396=) | |
| 19 | g.38565525C>T | CA059625 | RYR1 | c.127C>T c.1601C>T c.1583C>T c.13191C>T (p.Ala4397=) c.13176C>T (p.Ala4392=) c.13173C>T (p.Ala4391=) c.13158C>T (p.Ala4386=) c.13188C>T (p.Ala4396=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38565526G>A | CA405674177 | RYR1 | c.128G>A c.1602G>A c.1584G>A c.13192G>A (p.Gly4398Arg) c.13177G>A (p.Gly4393Arg) c.13174G>A (p.Gly4392Arg) c.13159G>A (p.Gly4387Arg) c.13189G>A (p.Gly4397Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38565526G>C | CA405674178 | RYR1 | c.128G>C c.1602G>C c.1584G>C c.13192G>C (p.Gly4398Arg) c.13177G>C (p.Gly4393Arg) c.13174G>C (p.Gly4392Arg) c.13159G>C (p.Gly4387Arg) c.13189G>C (p.Gly4397Arg) | gnomAD v4 |
| 19 | g.38565526G= | CA2335084932 | RYR1 | c.128G= c.1602G= c.1584G= c.13192G= (p.Gly4398=) c.13177G= (p.Gly4393=) c.13174G= (p.Gly4392=) c.13159G= (p.Gly4387=) c.13189G= (p.Gly4397=) | |
| 19 | g.38565526G>T | CA405674181 | RYR1 | c.128G>T c.1602G>T c.1584G>T c.13192G>T (p.Gly4398Trp) c.13177G>T (p.Gly4393Trp) c.13174G>T (p.Gly4392Trp) c.13159G>T (p.Gly4387Trp) c.13189G>T (p.Gly4397Trp) | gnomAD v4 |
| 19 | g.38565528dup | CA2584909157 | RYR1 | c.130dup c.1604dup c.1586dup c.13194dup (p.Pro4399AlafsTer?) c.13179dup (p.Pro4394AlafsTer?) c.13176dup (p.Pro4393AlafsTer?) c.13161dup (p.Pro4388AlafsTer?) c.13191dup (p.Pro4398AlafsTer?) | gnomAD v4 |
| 19 | g.38565528del | CA2584909158 | RYR1 | c.130del c.1604del c.1586del c.13194del (p.Pro4399ArgfsTer?) c.13179del (p.Pro4394ArgfsTer?) c.13176del (p.Pro4393ArgfsTer?) c.13161del (p.Pro4388ArgfsTer?) c.13191del (p.Pro4398ArgfsTer?) | gnomAD v4 |
| 19 | g.38565527G>A | CA405674185 | RYR1 | c.129G>A c.1603G>A c.1585G>A c.13193G>A (p.Gly4398Glu) c.13178G>A (p.Gly4393Glu) c.13175G>A (p.Gly4392Glu) c.13160G>A (p.Gly4387Glu) c.13190G>A (p.Gly4397Glu) | gnomAD v4 |
| 19 | g.38565527G>C | CA405674192 | RYR1 | c.129G>C c.1603G>C c.1585G>C c.13193G>C (p.Gly4398Ala) c.13178G>C (p.Gly4393Ala) c.13175G>C (p.Gly4392Ala) c.13160G>C (p.Gly4387Ala) c.13190G>C (p.Gly4397Ala) | |
| 19 | g.38565527G>T | CA405674197 | RYR1 | c.129G>T c.1603G>T c.1585G>T c.13193G>T (p.Gly4398Val) c.13178G>T (p.Gly4393Val) c.13175G>T (p.Gly4392Val) c.13160G>T (p.Gly4387Val) c.13190G>T (p.Gly4397Val) | gnomAD v4 |
| 19 | g.38565528G>A | CA507355793 | RYR1 | c.130G>A c.1604G>A c.1586G>A c.13194G>A (p.Gly4398=) c.13179G>A (p.Gly4393=) c.13176G>A (p.Gly4392=) c.13161G>A (p.Gly4387=) c.13191G>A (p.Gly4397=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38565528G>C | CA507355791 | RYR1 | c.130G>C c.1604G>C c.1586G>C c.13194G>C (p.Gly4398=) c.13179G>C (p.Gly4393=) c.13176G>C (p.Gly4392=) c.13161G>C (p.Gly4387=) c.13191G>C (p.Gly4397=) | |
| 19 | g.38565528G= | CA2335084933 | RYR1 | c.130G= c.1604G= c.1586G= c.13194G= (p.Gly4398=) c.13179G= (p.Gly4393=) c.13176G= (p.Gly4392=) c.13161G= (p.Gly4387=) c.13191G= (p.Gly4397=) | |
| 19 | g.38565528G>T | CA507355792 | RYR1 | c.130G>T c.1604G>T c.1586G>T c.13194G>T (p.Gly4398=) c.13179G>T (p.Gly4393=) c.13176G>T (p.Gly4392=) c.13161G>T (p.Gly4387=) c.13191G>T (p.Gly4397=) | gnomAD v4 |
| 19 | g.38565529C>A | CA405674204 | RYR1 | c.131C>A c.1605C>A c.1587C>A c.13195C>A (p.Pro4399Thr) c.13180C>A (p.Pro4394Thr) c.13177C>A (p.Pro4393Thr) c.13162C>A (p.Pro4388Thr) c.13192C>A (p.Pro4398Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38565529C= | CA2335084934 | RYR1 | c.131C= c.1605C= c.1587C= c.13195C= (p.Pro4399=) c.13180C= (p.Pro4394=) c.13177C= (p.Pro4393=) c.13162C= (p.Pro4388=) c.13192C= (p.Pro4398=) | |
| 19 | g.38565529C>G | CA405674212 | RYR1 | c.131C>G c.1605C>G c.1587C>G c.13195C>G (p.Pro4399Ala) c.13180C>G (p.Pro4394Ala) c.13177C>G (p.Pro4393Ala) c.13162C>G (p.Pro4388Ala) c.13192C>G (p.Pro4398Ala) | |
| 19 | g.38565529C>T | CA405674201 | RYR1 | c.131C>T c.1605C>T c.1587C>T c.13195C>T (p.Pro4399Ser) c.13180C>T (p.Pro4394Ser) c.13177C>T (p.Pro4393Ser) c.13162C>T (p.Pro4388Ser) c.13192C>T (p.Pro4398Ser) | gnomAD v4 |
| 19 | g.38565530del | CA2814346292 | RYR1 | c.132del c.1606del c.1588del c.13196del (p.Pro4399ArgfsTer?) c.13181del (p.Pro4394ArgfsTer?) c.13178del (p.Pro4393ArgfsTer?) c.13163del (p.Pro4388ArgfsTer?) c.13193del (p.Pro4398ArgfsTer?) | |
| 19 | g.38565530C>A | CA405674217 | RYR1 | c.132C>A c.1606C>A c.1588C>A c.13196C>A (p.Pro4399Gln) c.13181C>A (p.Pro4394Gln) c.13178C>A (p.Pro4393Gln) c.13163C>A (p.Pro4388Gln) c.13193C>A (p.Pro4398Gln) | gnomAD v4 |
| 19 | g.38565530C= | CA2335084935 | RYR1 | c.132C= c.1606C= c.1588C= c.13196C= (p.Pro4399=) c.13181C= (p.Pro4394=) c.13178C= (p.Pro4393=) c.13163C= (p.Pro4388=) c.13193C= (p.Pro4398=) | |
| 19 | g.38565530C>G | CA405674220 | RYR1 | c.132C>G c.1606C>G c.1588C>G c.13196C>G (p.Pro4399Arg) c.13181C>G (p.Pro4394Arg) c.13178C>G (p.Pro4393Arg) c.13163C>G (p.Pro4388Arg) c.13193C>G (p.Pro4398Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38565530C>T | CA405674226 | RYR1 | c.132C>T c.1606C>T c.1588C>T c.13196C>T (p.Pro4399Leu) c.13181C>T (p.Pro4394Leu) c.13178C>T (p.Pro4393Leu) c.13163C>T (p.Pro4388Leu) c.13193C>T (p.Pro4398Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38565531G>A | CA507355797 | RYR1 | c.133G>A c.1607G>A c.1589G>A c.13197G>A (p.Pro4399=) c.13182G>A (p.Pro4394=) c.13179G>A (p.Pro4393=) c.13164G>A (p.Pro4388=) c.13194G>A (p.Pro4398=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38565531G>C | CA507355798 | RYR1 | c.133G>C c.1607G>C c.1589G>C c.13197G>C (p.Pro4399=) c.13182G>C (p.Pro4394=) c.13179G>C (p.Pro4393=) c.13164G>C (p.Pro4388=) c.13194G>C (p.Pro4398=) | |
| 19 | g.38565531G= | CA2335084936 | RYR1 | c.133G= c.1607G= c.1589G= c.13197G= (p.Pro4399=) c.13182G= (p.Pro4394=) c.13179G= (p.Pro4393=) c.13164G= (p.Pro4388=) c.13194G= (p.Pro4398=) | |
| 19 | g.38565531G>T | CA059632 | RYR1 | c.133G>T c.1607G>T c.1589G>T c.13197G>T (p.Pro4399=) c.13182G>T (p.Pro4394=) c.13179G>T (p.Pro4393=) c.13164G>T (p.Pro4388=) c.13194G>T (p.Pro4398=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38565531_38565536dup | CA2697556511 | RYR1 | c.133_138dup c.1607_1612dup c.1589_1594dup c.13197_13202dup (p.Gly4401_Asp4402insGlyGly) c.13182_13187dup (p.Gly4396_Asp4397insGlyGly) c.13179_13184dup (p.Gly4395_Asp4396insGlyGly) c.13164_13169dup (p.Gly4390_Asp4391insGlyGly) c.13194_13199dup (p.Gly4400_Asp4401insGlyGly) | ClinVar |
| 19 | g.38565532G>A | CA405674251 | RYR1 | c.134G>A c.1608G>A c.1590G>A c.13198G>A (p.Gly4400Ser) c.13183G>A (p.Gly4395Ser) c.13180G>A (p.Gly4394Ser) c.13165G>A (p.Gly4389Ser) c.13195G>A (p.Gly4399Ser) | gnomAD v4 |
| 19 | g.38565532G>C | CA405674249 | RYR1 | c.134G>C c.1608G>C c.1590G>C c.13198G>C (p.Gly4400Arg) c.13183G>C (p.Gly4395Arg) c.13180G>C (p.Gly4394Arg) c.13165G>C (p.Gly4389Arg) c.13195G>C (p.Gly4399Arg) | |
| 19 | g.38565532G>T | CA405674245 | RYR1 | c.134G>T c.1608G>T c.1590G>T c.13198G>T (p.Gly4400Cys) c.13183G>T (p.Gly4395Cys) c.13180G>T (p.Gly4394Cys) c.13165G>T (p.Gly4389Cys) c.13195G>T (p.Gly4399Cys) | gnomAD v4 |
| 19 | g.38565533G>A | CA405674255 | RYR1 | c.135G>A c.1609G>A c.1591G>A c.13199G>A (p.Gly4400Asp) c.13184G>A (p.Gly4395Asp) c.13181G>A (p.Gly4394Asp) c.13166G>A (p.Gly4389Asp) c.13196G>A (p.Gly4399Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38565533G>C | CA405674260 | RYR1 | c.135G>C c.1609G>C c.1591G>C c.13199G>C (p.Gly4400Ala) c.13184G>C (p.Gly4395Ala) c.13181G>C (p.Gly4394Ala) c.13166G>C (p.Gly4389Ala) c.13196G>C (p.Gly4399Ala) | |
| 19 | g.38565533G= | CA2335084937 | RYR1 | c.135G= c.1609G= c.1591G= c.13199G= (p.Gly4400=) c.13184G= (p.Gly4395=) c.13181G= (p.Gly4394=) c.13166G= (p.Gly4389=) c.13196G= (p.Gly4399=) | |
| 19 | g.38565533G>T | CA405674270 | RYR1 | c.135G>T c.1609G>T c.1591G>T c.13199G>T (p.Gly4400Val) c.13184G>T (p.Gly4395Val) c.13181G>T (p.Gly4394Val) c.13166G>T (p.Gly4389Val) c.13196G>T (p.Gly4399Val) | gnomAD v4 |
| 19 | g.38565534C>A | CA507355802 | RYR1 | c.136C>A c.1610C>A c.1592C>A c.13200C>A (p.Gly4400=) c.13185C>A (p.Gly4395=) c.13182C>A (p.Gly4394=) c.13167C>A (p.Gly4389=) c.13197C>A (p.Gly4399=) | gnomAD v4 |
| 19 | g.38565534C>G | CA507355803 | RYR1 | c.136C>G c.1610C>G c.1592C>G c.13200C>G (p.Gly4400=) c.13185C>G (p.Gly4395=) c.13182C>G (p.Gly4394=) c.13167C>G (p.Gly4389=) c.13197C>G (p.Gly4399=) | |
| 19 | g.38565534C>T | CA507355804 | RYR1 | c.136C>T c.1610C>T c.1592C>T c.13200C>T (p.Gly4400=) c.13185C>T (p.Gly4395=) c.13182C>T (p.Gly4394=) c.13167C>T (p.Gly4389=) c.13197C>T (p.Gly4399=) | ClinVar gnomAD v4 |
| 19 | g.38565535G>A | CA405674273 | RYR1 | c.137G>A c.1611G>A c.1593G>A c.13201G>A (p.Gly4401Arg) c.13186G>A (p.Gly4396Arg) c.13183G>A (p.Gly4395Arg) c.13168G>A (p.Gly4390Arg) c.13198G>A (p.Gly4400Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38565535G>C | CA405674277 | RYR1 | c.137G>C c.1611G>C c.1593G>C c.13201G>C (p.Gly4401Arg) c.13186G>C (p.Gly4396Arg) c.13183G>C (p.Gly4395Arg) c.13168G>C (p.Gly4390Arg) c.13198G>C (p.Gly4400Arg) | |
| 19 | g.38565535G= | CA2335084938 | RYR1 | c.137G= c.1611G= c.1593G= c.13201G= (p.Gly4401=) c.13186G= (p.Gly4396=) c.13183G= (p.Gly4395=) c.13168G= (p.Gly4390=) c.13198G= (p.Gly4400=) | |
| 19 | g.38565535G>T | CA405674280 | RYR1 | c.137G>T c.1611G>T c.1593G>T c.13201G>T (p.Gly4401Ter) c.13186G>T (p.Gly4396Ter) c.13183G>T (p.Gly4395Ter) c.13168G>T (p.Gly4390Ter) c.13198G>T (p.Gly4400Ter) | gnomAD v4 |
| 19 | g.38565543_38565578dup | CA2584909159 | RYR1 | c.145_180dup c.1619_1654dup c.1601_1636dup c.13209_13244dup (p.Ala4415_Ala4416insAspGlyGluGlyAlaSerGluGlyAlaGlyAspAla) c.13194_13229dup (p.Ala4410_Ala4411insAspGlyGluGlyAlaSerGluGlyAlaGlyAspAla) c.13191_13226dup (p.Ala4409_Ala4410insAspGlyGluGlyAlaSerGluGlyAlaGlyAspAla) c.13176_13211dup (p.Ala4404_Ala4405insAspGlyGluGlyAlaSerGluGlyAlaGlyAspAla) c.13206_13241dup (p.Ala4414_Ala4415insAspGlyGluGlyAlaSerGluGlyAlaGlyAspAla) | gnomAD v4 |
| 19 | g.38565536G>A | CA405674284 | RYR1 | c.138G>A c.1612G>A c.1594G>A c.13202G>A (p.Gly4401Glu) c.13187G>A (p.Gly4396Glu) c.13184G>A (p.Gly4395Glu) c.13169G>A (p.Gly4390Glu) c.13199G>A (p.Gly4400Glu) | gnomAD v4 |
| 19 | g.38565536G>C | CA405674298 | RYR1 | c.138G>C c.1612G>C c.1594G>C c.13202G>C (p.Gly4401Ala) c.13187G>C (p.Gly4396Ala) c.13184G>C (p.Gly4395Ala) c.13169G>C (p.Gly4390Ala) c.13199G>C (p.Gly4400Ala) | |
| 19 | g.38565536G>T | CA405674295 | RYR1 | c.138G>T c.1612G>T c.1594G>T c.13202G>T (p.Gly4401Val) c.13187G>T (p.Gly4396Val) c.13184G>T (p.Gly4395Val) c.13169G>T (p.Gly4390Val) c.13199G>T (p.Gly4400Val) | gnomAD v4 |