Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.38499203G>A | CA507243219 | RYR1 | c.6987G>A (p.Glu2329=) c.6984G>A (p.Glu2328=) c.439G>A n.7070G>A | ClinVar |
19 | g.38499203G>C | CA405667390 | RYR1 | c.6987G>C (p.Glu2329Asp) c.6984G>C (p.Glu2328Asp) c.439G>C n.7070G>C | |
19 | g.38499203G= | CA2335052626 | RYR1 | c.6987G= (p.Glu2329=) c.6984G= (p.Glu2328=) c.439G= n.7070G= | |
19 | g.38499203G>T | CA068957 | RYR1 | c.6987G>T (p.Glu2329Asp) c.6984G>T (p.Glu2328Asp) c.439G>T n.7070G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38499204C>A | CA405667392 | RYR1 | c.6988C>A (p.Arg2330Ser) c.6985C>A (p.Arg2329Ser) c.440C>A n.7071C>A | |
19 | g.38499204C= | CA2335052627 | RYR1 | c.6988C= (p.Arg2330=) c.6985C= (p.Arg2329=) c.440C= n.7071C= | |
19 | g.38499204C>G | CA405667394 | RYR1 | c.6988C>G (p.Arg2330Gly) c.6985C>G (p.Arg2329Gly) c.440C>G n.7071C>G | |
19 | g.38499204C>T | CA068962 | RYR1 | c.6988C>T (p.Arg2330Cys) c.6985C>T (p.Arg2329Cys) c.440C>T n.7071C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499205G>A | CA068966 | RYR1 | c.6989G>A (p.Arg2330His) c.6986G>A (p.Arg2329His) c.441G>A n.7072G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38499205G>C | CA405667395 | RYR1 | c.6989G>C (p.Arg2330Pro) c.6986G>C (p.Arg2329Pro) c.441G>C n.7072G>C | |
19 | g.38499205G= | CA2335052628 | RYR1 | c.6989G= (p.Arg2330=) c.6986G= (p.Arg2329=) c.441G= n.7072G= | |
19 | g.38499205G>T | CA405667398 | RYR1 | c.6989G>T (p.Arg2330Leu) c.6986G>T (p.Arg2329Leu) c.441G>T n.7072G>T | |
19 | g.38499206C>A | CA507243222 | RYR1 | c.6990C>A (p.Arg2330=) c.6987C>A (p.Arg2329=) c.442C>A n.7073C>A | |
19 | g.38499206C>G | CA507243224 | RYR1 | c.6990C>G (p.Arg2330=) c.6987C>G (p.Arg2329=) c.442C>G n.7073C>G | |
19 | g.38499206C>T | CA507243225 | RYR1 | c.6990C>T (p.Arg2330=) c.6987C>T (p.Arg2329=) c.442C>T n.7073C>T | |
19 | g.38499207T>A | CA405667402 | RYR1 | c.6991T>A (p.Tyr2331Asn) c.6988T>A (p.Tyr2330Asn) c.443T>A n.7074T>A | |
19 | g.38499207T>C | CA405667404 | RYR1 | c.6991T>C (p.Tyr2331His) c.6988T>C (p.Tyr2330His) c.443T>C n.7074T>C | |
19 | g.38499207T>G | CA405667401 | RYR1 | c.6991T>G (p.Tyr2331Asp) c.6988T>G (p.Tyr2330Asp) c.443T>G n.7074T>G | |
19 | g.38499208A>C | CA405667410 | RYR1 | c.6992A>C (p.Tyr2331Ser) c.6989A>C (p.Tyr2330Ser) c.444A>C n.7075A>C | |
19 | g.38499208A>G | CA405667405 | RYR1 | c.6992A>G (p.Tyr2331Cys) c.6989A>G (p.Tyr2330Cys) c.444A>G n.7075A>G | |
19 | g.38499208A>T | CA405667408 | RYR1 | c.6992A>T (p.Tyr2331Phe) c.6989A>T (p.Tyr2330Phe) c.444A>T n.7075A>T | |
19 | g.38499209C>A | CA405667411 | RYR1 | c.6993C>A (p.Tyr2331Ter) c.6990C>A (p.Tyr2330Ter) c.445C>A n.7076C>A | |
19 | g.38499209C>G | CA405667412 | RYR1 | c.6993C>G (p.Tyr2331Ter) c.6990C>G (p.Tyr2330Ter) c.445C>G n.7076C>G | |
19 | g.38499209C>T | CA507243227 | RYR1 | c.6993C>T (p.Tyr2331=) c.6990C>T (p.Tyr2330=) c.445C>T n.7076C>T | ClinVar |
19 | g.38499210C>A | CA405667414 | RYR1 | c.6994C>A (p.Leu2332Met) c.6991C>A (p.Leu2331Met) c.446C>A n.7077C>A | |
19 | g.38499210C= | CA2335052629 | RYR1 | c.6994C= (p.Leu2332=) c.6991C= (p.Leu2331=) c.446C= n.7077C= | |
19 | g.38499210C>G | CA308107315 | RYR1 | c.6994C>G (p.Leu2332Val) c.6991C>G (p.Leu2331Val) c.446C>G n.7077C>G | dbSNP |
19 | g.38499210C>T | CA507243228 | RYR1 | c.6994C>T (p.Leu2332=) c.6991C>T (p.Leu2331=) c.446C>T n.7077C>T | |
19 | g.38499211T>A | CA405667417 | RYR1 | c.6995T>A (p.Leu2332Gln) c.6992T>A (p.Leu2331Gln) c.447T>A n.7078T>A | |
19 | g.38499211T>C | CA405667418 | RYR1 | c.6995T>C (p.Leu2332Pro) c.6992T>C (p.Leu2331Pro) c.447T>C n.7078T>C | |
19 | g.38499211T>G | CA405667419 | RYR1 | c.6995T>G (p.Leu2332Arg) c.6992T>G (p.Leu2331Arg) c.447T>G n.7078T>G | ClinVar |
19 | g.38499212G>A | CA507243229 | RYR1 | c.6996G>A (p.Leu2332=) c.6993G>A (p.Leu2331=) c.448G>A n.7079G>A | |
19 | g.38499212G>C | CA507243231 | RYR1 | c.6996G>C (p.Leu2332=) c.6993G>C (p.Leu2331=) c.448G>C n.7079G>C | |
19 | g.38499212G>T | CA507243232 | RYR1 | c.6996G>T (p.Leu2332=) c.6993G>T (p.Leu2331=) c.448G>T n.7079G>T | |
19 | g.38499213G>A | CA405667420 | RYR1 | c.6997G>A (p.Asp2333Asn) c.6994G>A (p.Asp2332Asn) c.449G>A n.7080G>A | |
19 | g.38499213G>C | CA405667421 | RYR1 | c.6997G>C (p.Asp2333His) c.6994G>C (p.Asp2332His) c.449G>C n.7080G>C | |
19 | g.38499213G>T | CA405667423 | RYR1 | c.6997G>T (p.Asp2333Tyr) c.6994G>T (p.Asp2332Tyr) c.449G>T n.7080G>T | |
19 | g.38499214A>C | CA405667427 | RYR1 | c.6998A>C (p.Asp2333Ala) c.6995A>C (p.Asp2332Ala) c.450A>C n.7081A>C | |
19 | g.38499214A>G | CA405667424 | RYR1 | c.6998A>G (p.Asp2333Gly) c.6995A>G (p.Asp2332Gly) c.450A>G n.7081A>G | |
19 | g.38499214A>T | CA405667426 | RYR1 | c.6998A>T (p.Asp2333Val) c.6995A>T (p.Asp2332Val) c.450A>T n.7081A>T | |
19 | g.38499215C>A | CA405667428 | RYR1 | c.6999C>A (p.Asp2333Glu) c.6996C>A (p.Asp2332Glu) c.451C>A n.7082C>A | |
19 | g.38499215C>G | CA405667429 | RYR1 | c.6999C>G (p.Asp2333Glu) c.6996C>G (p.Asp2332Glu) c.451C>G n.7082C>G | |
19 | g.38499215C>T | CA507243236 | RYR1 | c.6999C>T (p.Asp2333=) c.6996C>T (p.Asp2332=) c.451C>T n.7082C>T | |
19 | g.38499216T>A | CA405667431 | RYR1 | c.7000T>A (p.Phe2334Ile) c.6997T>A (p.Phe2333Ile) c.452T>A n.7083T>A | |
19 | g.38499216T>C | CA405667433 | RYR1 | c.7000T>C (p.Phe2334Leu) c.6997T>C (p.Phe2333Leu) c.452T>C n.7083T>C | |
19 | g.38499216T>G | CA405667434 | RYR1 | c.7000T>G (p.Phe2334Val) c.6997T>G (p.Phe2333Val) c.452T>G n.7083T>G | |
19 | g.38499217T>A | CA405667436 | RYR1 | c.7001T>A (p.Phe2334Tyr) c.6998T>A (p.Phe2333Tyr) c.453T>A n.7084T>A | COSMIC |
19 | g.38499217T>C | CA405667438 | RYR1 | c.7001T>C (p.Phe2334Ser) c.6998T>C (p.Phe2333Ser) c.453T>C n.7084T>C | |
19 | g.38499217T>G | CA405667440 | RYR1 | c.7001T>G (p.Phe2334Cys) c.6998T>G (p.Phe2333Cys) c.453T>G n.7084T>G | |
19 | g.38499217_38499218delinsTC | CA2335052630 | RYR1 | c.7001_7002delinsTC (p.Phe2334=) c.6998_6999delinsTC (p.Phe2333=) c.453_454delinsTC n.7084_7085delinsTC | |
19 | g.38499218C>A | CA405667441 | RYR1 | c.7002C>A (p.Phe2334Leu) c.6999C>A (p.Phe2333Leu) c.454C>A n.7085C>A | |
19 | g.38499218C= | CA2335052631 | RYR1 | c.7002C= (p.Phe2334=) c.6999C= (p.Phe2333=) c.454C= n.7085C= | |
19 | g.38499218C>G | CA405667442 | RYR1 | c.7002C>G (p.Phe2334Leu) c.6999C>G (p.Phe2333Leu) c.454C>G n.7085C>G | |
19 | g.38499218C>T | CA507243239 | RYR1 | c.7002C>T (p.Phe2334=) c.6999C>T (p.Phe2333=) c.454C>T n.7085C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38499219del | CA920105699 | RYR1 | c.7003del (p.Leu2335CysfsTer?) c.7000del (p.Leu2334CysfsTer?) c.455del n.7086del | dbSNP |
19 | g.38499219C>A | CA405667443 | RYR1 | c.7003C>A (p.Leu2335Met) c.7000C>A (p.Leu2334Met) c.455C>A n.7086C>A | |
19 | g.38499219C>G | CA405667444 | RYR1 | c.7003C>G (p.Leu2335Val) c.7000C>G (p.Leu2334Val) c.455C>G n.7086C>G | |
19 | g.38499219C>T | CA507243240 | RYR1 | c.7003C>T (p.Leu2335=) c.7000C>T (p.Leu2334=) c.455C>T n.7086C>T | gnomAD v4 |
19 | g.38499220T>A | CA405667446 | RYR1 | c.7004T>A (p.Leu2335Gln) c.7001T>A (p.Leu2334Gln) c.456T>A n.7087T>A | |
19 | g.38499220T>C | CA405667448 | RYR1 | c.7004T>C (p.Leu2335Pro) c.7001T>C (p.Leu2334Pro) c.456T>C n.7087T>C | |
19 | g.38499220T>G | CA405667445 | RYR1 | c.7004T>G (p.Leu2335Arg) c.7001T>G (p.Leu2334Arg) c.456T>G n.7087T>G | |
19 | g.38499221G>A | CA507243241 | RYR1 | c.7005G>A (p.Leu2335=) c.7002G>A (p.Leu2334=) c.457G>A n.7088G>A | |
19 | g.38499221G>C | CA507243243 | RYR1 | c.7005G>C (p.Leu2335=) c.7002G>C (p.Leu2334=) c.457G>C n.7088G>C | |
19 | g.38499221G>T | CA507243242 | RYR1 | c.7005G>T (p.Leu2335=) c.7002G>T (p.Leu2334=) c.457G>T n.7088G>T | |
19 | g.38499222C>A | CA405667449 | RYR1 | c.7006C>A (p.Arg2336Ser) c.7003C>A (p.Arg2335Ser) c.458C>A n.7089C>A | |
19 | g.38499222C= | CA2335052632 | RYR1 | c.7006C= (p.Arg2336=) c.7003C= (p.Arg2335=) c.458C= n.7089C= | |
19 | g.38499222C>G | CA405667451 | RYR1 | c.7006C>G (p.Arg2336Gly) c.7003C>G (p.Arg2335Gly) c.458C>G n.7089C>G | ClinVar |
19 | g.38499222C>T | CA405667453 | RYR1 | c.7006C>T (p.Arg2336Cys) c.7003C>T (p.Arg2335Cys) c.458C>T n.7089C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.38499223G>A | CA024662 | RYR1 | c.7007G>A (p.Arg2336His) c.7004G>A (p.Arg2335His) c.459G>A n.7090G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38499223G>C | CA405667454 | RYR1 | c.7007G>C (p.Arg2336Pro) c.7004G>C (p.Arg2335Pro) c.459G>C n.7090G>C | |
19 | g.38499223G= | CA2335052633 | RYR1 | c.7007G= (p.Arg2336=) c.7004G= (p.Arg2335=) c.459G= n.7090G= | |
19 | g.38499223G>T | CA405667456 | RYR1 | c.7007G>T (p.Arg2336Leu) c.7004G>T (p.Arg2335Leu) c.459G>T n.7090G>T | ClinVar |
19 | g.38499224C>A | CA507243244 | RYR1 | c.7008C>A (p.Arg2336=) c.7005C>A (p.Arg2335=) c.460C>A n.7091C>A | |
19 | g.38499224C>G | CA507243245 | RYR1 | c.7008C>G (p.Arg2336=) c.7005C>G (p.Arg2335=) c.460C>G n.7091C>G | |
19 | g.38499224C>T | CA507243246 | RYR1 | c.7008C>T (p.Arg2336=) c.7005C>T (p.Arg2335=) c.460C>T n.7091C>T | gnomAD v4 COSMIC |
19 | g.38499225T>A | CA405667461 | RYR1 | c.7009T>A (p.Phe2337Ile) c.7006T>A (p.Phe2336Ile) c.461T>A n.7092T>A | |
19 | g.38499225T>C | CA405667458 | RYR1 | c.7009T>C (p.Phe2337Leu) c.7006T>C (p.Phe2336Leu) c.461T>C n.7092T>C | |
19 | g.38499225T>G | CA405667459 | RYR1 | c.7009T>G (p.Phe2337Val) c.7006T>G (p.Phe2336Val) c.461T>G n.7092T>G | |
19 | g.38499226T>A | CA405667462 | RYR1 | c.7010T>A (p.Phe2337Tyr) c.7007T>A (p.Phe2336Tyr) c.462T>A n.7093T>A | |
19 | g.38499226T>C | CA405667463 | RYR1 | c.7010T>C (p.Phe2337Ser) c.7007T>C (p.Phe2336Ser) c.462T>C n.7093T>C | |
19 | g.38499226T>G | CA405667465 | RYR1 | c.7010T>G (p.Phe2337Cys) c.7007T>G (p.Phe2336Cys) c.462T>G n.7093T>G | |
19 | g.38499227T>A | CA405667467 | RYR1 | c.7011T>A (p.Phe2337Leu) c.7008T>A (p.Phe2336Leu) c.463T>A n.7094T>A | |
19 | g.38499227T>C | CA507243249 | RYR1 | c.7011T>C (p.Phe2337=) c.7008T>C (p.Phe2336=) c.463T>C n.7094T>C | gnomAD v4 |
19 | g.38499227T>G | CA405667469 | RYR1 | c.7011T>G (p.Phe2337Leu) c.7008T>G (p.Phe2336Leu) c.463T>G n.7094T>G | |
19 | g.38499228G>A | CA405667470 | RYR1 | c.7012G>A (p.Ala2338Thr) c.7009G>A (p.Ala2337Thr) c.464G>A n.7095G>A | gnomAD v4 |
19 | g.38499228G>C | CA405667474 | RYR1 | c.7012G>C (p.Ala2338Pro) c.7009G>C (p.Ala2337Pro) c.464G>C n.7095G>C | |
19 | g.38499228G>T | CA405667472 | RYR1 | c.7012G>T (p.Ala2338Ser) c.7009G>T (p.Ala2337Ser) c.464G>T n.7095G>T | |
19 | g.38499229C>A | CA405667475 | RYR1 | c.7013C>A (p.Ala2338Asp) c.7010C>A (p.Ala2337Asp) c.465C>A n.7096C>A | COSMIC |
19 | g.38499229C>G | CA405667476 | RYR1 | c.7013C>G (p.Ala2338Gly) c.7010C>G (p.Ala2337Gly) c.465C>G n.7096C>G | |
19 | g.38499229C>T | CA405667478 | RYR1 | c.7013C>T (p.Ala2338Val) c.7010C>T (p.Ala2337Val) c.465C>T n.7096C>T | ClinVar dbSNP |
19 | g.38499230T>A | CA507243253 | RYR1 | c.7014T>A (p.Ala2338=) c.7011T>A (p.Ala2337=) c.466T>A n.7097T>A | |
19 | g.38499230T>C | CA507243254 | RYR1 | c.7014T>C (p.Ala2338=) c.7011T>C (p.Ala2337=) c.466T>C n.7097T>C | |
19 | g.38499230T>G | CA507243256 | RYR1 | c.7014T>G (p.Ala2338=) c.7011T>G (p.Ala2337=) c.466T>G n.7097T>G | |
19 | g.38499231G>A | CA405667479 | RYR1 | c.7015G>A (p.Val2339Ile) c.7012G>A (p.Val2338Ile) c.467G>A n.7098G>A | gnomAD v4 |
19 | g.38499231G>C | CA405667480 | RYR1 | c.7015G>C (p.Val2339Leu) c.7012G>C (p.Val2338Leu) c.467G>C n.7098G>C | |
19 | g.38499231G= | CA2335052634 | RYR1 | c.7015G= (p.Val2339=) c.7012G= (p.Val2338=) c.467G= n.7098G= | |
19 | g.38499231G>T | CA405667482 | RYR1 | c.7015G>T (p.Val2339Phe) c.7012G>T (p.Val2338Phe) c.467G>T n.7098G>T | ClinVar dbSNP |
19 | g.38499232T>A | CA405667484 | RYR1 | c.7016T>A (p.Val2339Asp) c.7013T>A (p.Val2338Asp) c.468T>A n.7099T>A | |
19 | g.38499232T>C | CA405667486 | RYR1 | c.7016T>C (p.Val2339Ala) c.7013T>C (p.Val2338Ala) c.468T>C n.7099T>C | |
19 | g.38499232T>G | CA405667487 | RYR1 | c.7016T>G (p.Val2339Gly) c.7013T>G (p.Val2338Gly) c.468T>G n.7099T>G | |
19 | g.38499233C>A | CA507243260 | RYR1 | c.7017C>A (p.Val2339=) c.7014C>A (p.Val2338=) c.469C>A n.7100C>A | dbSNP |
19 | g.38499233C>G | CA507243262 | RYR1 | c.7017C>G (p.Val2339=) c.7014C>G (p.Val2338=) c.469C>G n.7100C>G | |
19 | g.38499233C>T | CA507243261 | RYR1 | c.7017C>T (p.Val2339=) c.7014C>T (p.Val2338=) c.469C>T n.7100C>T | ClinVar gnomAD v4 COSMIC |
19 | g.38499234T>A | CA405667489 | RYR1 | c.7018T>A (p.Phe2340Ile) c.7015T>A (p.Phe2339Ile) c.470T>A n.7101T>A | ClinVar dbSNP |
19 | g.38499234T>C | CA405667490 | RYR1 | c.7018T>C (p.Phe2340Leu) c.7015T>C (p.Phe2339Leu) c.470T>C n.7101T>C | ClinVar dbSNP |
19 | g.38499234T>G | CA405667491 | RYR1 | c.7018T>G (p.Phe2340Val) c.7015T>G (p.Phe2339Val) c.470T>G n.7101T>G | |
19 | g.38499234T= | CA2335052635 | RYR1 | c.7018T= (p.Phe2340=) c.7015T= (p.Phe2339=) c.470T= n.7101T= | |
19 | g.38499235T>A | CA405667497 | RYR1 | c.7019T>A (p.Phe2340Tyr) c.7016T>A (p.Phe2339Tyr) c.471T>A n.7102T>A | |
19 | g.38499235T>C | CA405667495 | RYR1 | c.7019T>C (p.Phe2340Ser) c.7016T>C (p.Phe2339Ser) c.471T>C n.7102T>C | |
19 | g.38499235T>G | CA405667493 | RYR1 | c.7019T>G (p.Phe2340Cys) c.7016T>G (p.Phe2339Cys) c.471T>G n.7102T>G | |
19 | g.38499236C>A | CA405667498 | RYR1 | c.7020C>A (p.Phe2340Leu) c.7017C>A (p.Phe2339Leu) c.472C>A n.7103C>A | |
19 | g.38499236C= | CA2335052636 | RYR1 | c.7020C= (p.Phe2340=) c.7017C= (p.Phe2339=) c.472C= n.7103C= | |
19 | g.38499236C>G | CA308107330 | RYR1 | c.7020C>G (p.Phe2340Leu) c.7017C>G (p.Phe2339Leu) c.472C>G n.7103C>G | dbSNP |
19 | g.38499236C>T | CA068967 | RYR1 | c.7020C>T (p.Phe2340=) c.7017C>T (p.Phe2339=) c.472C>T n.7103C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38499237G>A | CA068972 | RYR1 | c.7021G>A (p.Val2341Ile) c.7018G>A (p.Val2340Ile) c.473G>A n.7104G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38499237G>C | CA405667503 | RYR1 | c.7021G>C (p.Val2341Leu) c.7018G>C (p.Val2340Leu) c.473G>C n.7104G>C | |
19 | g.38499237G= | CA2335052637 | RYR1 | c.7021G= (p.Val2341=) c.7018G= (p.Val2340=) c.473G= n.7104G= | |
19 | g.38499237G>T | CA405667502 | RYR1 | c.7021G>T (p.Val2341Phe) c.7018G>T (p.Val2340Phe) c.473G>T n.7104G>T | gnomAD v4 |
19 | g.38499238T>A | CA405667504 | RYR1 | c.7022T>A (p.Val2341Asp) c.7019T>A (p.Val2340Asp) c.474T>A n.7105T>A | |
19 | g.38499238T>C | CA405667505 | RYR1 | c.7022T>C (p.Val2341Ala) c.7019T>C (p.Val2340Ala) c.474T>C n.7105T>C | |
19 | g.38499238T>G | CA405667507 | RYR1 | c.7022T>G (p.Val2341Gly) c.7019T>G (p.Val2340Gly) c.474T>G n.7105T>G | |
19 | g.38499239C>A | CA507243265 | RYR1 | c.7023C>A (p.Val2341=) c.7020C>A (p.Val2340=) c.475C>A n.7106C>A | |
19 | g.38499239C>G | CA507243266 | RYR1 | c.7023C>G (p.Val2341=) c.7020C>G (p.Val2340=) c.475C>G n.7106C>G | |
19 | g.38499239C>T | CA082282 | RYR1 | c.7023C>T (p.Val2341=) c.7020C>T (p.Val2340=) c.475C>T n.7106C>T | |
19 | g.38499240A>C | CA405667509 | RYR1 | c.7024A>C (p.Asn2342His) c.7021A>C (p.Asn2341His) c.476A>C n.7107A>C | |
19 | g.38499240A>G | CA405667510 | RYR1 | c.7024A>G (p.Asn2342Asp) c.7021A>G (p.Asn2341Asp) c.476A>G n.7107A>G | |
19 | g.38499240A>T | CA405667512 | RYR1 | c.7024A>T (p.Asn2342Tyr) c.7021A>T (p.Asn2341Tyr) c.476A>T n.7107A>T | |
19 | g.38499241A= | CA2335052638 | RYR1 | c.7025A= (p.Asn2342=) c.7022A= (p.Asn2341=) c.477A= n.7108A= | |
19 | g.38499241A>C | CA405667514 | RYR1 | c.7025A>C (p.Asn2342Thr) c.7022A>C (p.Asn2341Thr) c.477A>C n.7108A>C | |
19 | g.38499241A>G | CA024665 | RYR1 | c.7025A>G (p.Asn2342Ser) c.7022A>G (p.Asn2341Ser) c.477A>G n.7108A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499241A>T | CA405667516 | RYR1 | c.7025A>T (p.Asn2342Ile) c.7022A>T (p.Asn2341Ile) c.477A>T n.7108A>T | |
19 | g.38499242C>A | CA405667517 | RYR1 | c.7026C>A (p.Asn2342Lys) c.7023C>A (p.Asn2341Lys) c.478C>A n.7109C>A | |
19 | g.38499242C= | CA2335052639 | RYR1 | c.7026C= (p.Asn2342=) c.7023C= (p.Asn2341=) c.478C= n.7109C= | |
19 | g.38499242C>G | CA405667519 | RYR1 | c.7026C>G (p.Asn2342Lys) c.7023C>G (p.Asn2341Lys) c.478C>G n.7109C>G | |
19 | g.38499242C>T | CA068977 | RYR1 | c.7026C>T (p.Asn2342=) c.7023C>T (p.Asn2341=) c.478C>T n.7109C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38499243G>A | CA069011 | RYR1 | c.7027G>A (p.Gly2343Ser) c.7024G>A (p.Gly2342Ser) c.479G>A n.7110G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499243G>C | CA405667522 | RYR1 | c.7027G>C (p.Gly2343Arg) c.7024G>C (p.Gly2342Arg) c.479G>C n.7110G>C | ClinVar gnomAD v4 |
19 | g.38499243G= | CA2335052640 | RYR1 | c.7027G= (p.Gly2343=) c.7024G= (p.Gly2342=) c.479G= n.7110G= | |
19 | g.38499243G>T | CA405667523 | RYR1 | c.7027G>T (p.Gly2343Cys) c.7024G>T (p.Gly2342Cys) c.479G>T n.7110G>T | |
19 | g.38499244G>A | CA405667526 | RYR1 | c.7027+1G>A (n.7027+1G>A) c.7024+1G>A (n.7024+1G>A) c.479+1G>A n.7110+1G>A | ClinVar |
19 | g.38499244G>C | CA405667528 | RYR1 | c.7027+1G>C (n.7027+1G>C) c.7024+1G>C (n.7024+1G>C) c.479+1G>C n.7110+1G>C | |
19 | g.38499244G>T | CA405667529 | RYR1 | c.7027+1G>T (n.7027+1G>T) c.7024+1G>T (n.7024+1G>T) c.479+1G>T n.7110+1G>T | |
19 | g.38499245T>A | CA405667531 | RYR1 | c.7027+2T>A (n.7027+2T>A) c.7024+2T>A (n.7024+2T>A) c.479+2T>A n.7110+2T>A | |
19 | g.38499245T>C | CA405667532 | RYR1 | c.7027+2T>C (n.7027+2T>C) c.7024+2T>C (n.7024+2T>C) c.479+2T>C n.7110+2T>C | |
19 | g.38499245T>G | CA405667533 | RYR1 | c.7027+2T>G (n.7027+2T>G) c.7024+2T>G (n.7024+2T>G) c.479+2T>G n.7110+2T>G | |
19 | g.38499246G>T | CA2515534694 | RYR1 | c.7027+3G>T (n.7027+3G>T) c.7024+3G>T (n.7024+3G>T) c.479+3G>T n.7110+3G>T | |
19 | g.38499247A= | CA2335052641 | RYR1 | c.7027+4A= (n.7027+4A=) c.7024+4A= (n.7024+4A=) c.479+4A= n.7110+4A= | |
19 | g.38499247A>G | CA068997 | RYR1 | c.7027+4A>G (n.7027+4A>G) c.7024+4A>G (n.7024+4A>G) c.479+4A>G n.7110+4A>G | dbSNP ExAC gnomAD v2 |
19 | g.38499247A>T | CA068998 | RYR1 | c.7027+4A>T (n.7027+4A>T) c.7024+4A>T (n.7024+4A>T) c.479+4A>T n.7110+4A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499248G>A | CA2697556571 | RYR1 | c.7027+5G>A (n.7027+5G>A) c.7024+5G>A (n.7024+5G>A) c.479+5G>A n.7110+5G>A | ClinVar |
19 | g.38499249G>T | CA2584899835 | RYR1 | c.7027+6G>T (n.7027+6G>T) c.7024+6G>T (n.7024+6G>T) c.479+6G>T n.7110+6G>T | gnomAD v4 |
19 | g.38499251G>A | CA069002 | RYR1 | c.7027+8G>A (n.7027+8G>A) c.7024+8G>A (n.7024+8G>A) c.479+8G>A n.7110+8G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499251G>C | CA2739276773 | RYR1 | c.7027+8G>C (n.7027+8G>C) c.7024+8G>C (n.7024+8G>C) c.479+8G>C n.7110+8G>C | ClinVar |
19 | g.38499251G= | CA2335052642 | RYR1 | c.7027+8G= (n.7027+8G=) c.7024+8G= (n.7024+8G=) c.479+8G= n.7110+8G= | |
19 | g.38499252G>C | CA2584899836 | RYR1 | c.7027+9G>C (n.7027+9G>C) c.7024+9G>C (n.7024+9G>C) c.479+9G>C n.7110+9G>C | gnomAD v4 |
19 | g.38499252G= | CA2335052643 | RYR1 | c.7027+9G= (n.7027+9G=) c.7024+9G= (n.7024+9G=) c.479+9G= n.7110+9G= | |
19 | g.38499252G>T | CA069006 | RYR1 | c.7027+9G>T (n.7027+9G>T) c.7024+9G>T (n.7024+9G>T) c.479+9G>T n.7110+9G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499253G>A | CA2576771050 | RYR1 | c.7027+10G>A (n.7027+10G>A) c.7024+10G>A (n.7024+10G>A) c.479+10G>A n.7110+10G>A | |
19 | g.38499253G>T | CA2573156308 | RYR1 | c.7027+10G>T (n.7027+10G>T) c.7024+10G>T (n.7024+10G>T) c.479+10G>T n.7110+10G>T | ClinVar dbSNP |
19 | g.38499255G>A | CA2584899837 | RYR1 | c.7027+12G>A (n.7027+12G>A) c.7024+12G>A (n.7024+12G>A) c.479+12G>A n.7110+12G>A | gnomAD v4 |
19 | g.38499255G>T | CA2584899838 | RYR1 | c.7027+12G>T (n.7027+12G>T) c.7024+12G>T (n.7024+12G>T) c.479+12G>T n.7110+12G>T | ClinVar gnomAD v4 |
19 | g.38499256T>A | CA2584899839 | RYR1 | c.7027+13T>A (n.7027+13T>A) c.7024+13T>A (n.7024+13T>A) c.479+13T>A n.7110+13T>A | gnomAD v4 |
19 | g.38499257G>A | CA632874621 | RYR1 | c.7027+14G>A (n.7027+14G>A) c.7024+14G>A (n.7024+14G>A) c.479+14G>A n.7110+14G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499257G= | CA2335052644 | RYR1 | c.7027+14G= (n.7027+14G=) c.7024+14G= (n.7024+14G=) c.479+14G= n.7110+14G= | |
19 | g.38499258G>A | CA2584899840 | RYR1 | c.7027+15G>A (n.7027+15G>A) c.7024+15G>A (n.7024+15G>A) c.479+15G>A n.7110+15G>A | gnomAD v4 |
19 | g.38499258G>C | CA2584899841 | RYR1 | c.7027+15G>C (n.7027+15G>C) c.7024+15G>C (n.7024+15G>C) c.479+15G>C n.7110+15G>C | ClinVar gnomAD v4 |
19 | g.38499259C= | CA2335052646 | RYR1 | c.7027+16C= (n.7027+16C=) c.7024+16C= (n.7024+16C=) c.479+16C= n.7110+16C= | |
19 | g.38499259C>T | CA632874622 | RYR1 | c.7027+16C>T (n.7027+16C>T) c.7024+16C>T (n.7024+16C>T) c.479+16C>T n.7110+16C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499259_38499274delinsCAGTGGCAGAGCGGGA | CA2335052645 | RYR1 | c.7027+16_7027+31delinsCAGTGGCAGAGCGGGA (n.7027+16_7027+31delinsCAGTGGCAGAGCGGGA) c.7024+16_7024+31delinsCAGTGGCAGAGCGGGA (n.7024+16_7024+31delinsCAGTGGCAGAGCGGGA) c.479+16_479+31delinsCAGTGGCAGAGCGGGA n.7110+16_7110+31delinsCAGTGGCAGAGCGGGA | |
19 | g.38499260A= | CA2335052647 | RYR1 | c.7027+17A= (n.7027+17A=) c.7024+17A= (n.7024+17A=) c.479+17A= n.7110+17A= | |
19 | g.38499260A>G | CA2584899842 | RYR1 | c.7027+17A>G (n.7027+17A>G) c.7024+17A>G (n.7024+17A>G) c.479+17A>G n.7110+17A>G | gnomAD v4 |
19 | g.38499260A>T | CA995715357 | RYR1 | c.7027+17A>T (n.7027+17A>T) c.7024+17A>T (n.7024+17A>T) c.479+17A>T n.7110+17A>T | dbSNP |
19 | g.38499263_38499277del | CA632874623 | RYR1 | c.7027+20_7027+34del (n.7027+20_7027+34del) c.7024+20_7024+34del (n.7024+20_7024+34del) c.479+20_479+34del n.7110+20_7110+34del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38499261G>A | CA308107376 | RYR1 | c.7027+18G>A (n.7027+18G>A) c.7024+18G>A (n.7024+18G>A) c.479+18G>A n.7110+18G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38499261G= | CA2335052648 | RYR1 | c.7027+18G= (n.7027+18G=) c.7024+18G= (n.7024+18G=) c.479+18G= n.7110+18G= | |
19 | g.38499262T>C | CA2584899843 | RYR1 | c.7027+19T>C (n.7027+19T>C) c.7024+19T>C (n.7024+19T>C) c.479+19T>C n.7110+19T>C | gnomAD v4 |
19 | g.38499262_38499263delinsTG | CA2335052649 | RYR1 | c.7027+19_7027+20delinsTG (n.7027+19_7027+20delinsTG) c.7024+19_7024+20delinsTG (n.7024+19_7024+20delinsTG) c.479+19_479+20delinsTG n.7110+19_7110+20delinsTG | |
19 | g.38499263G>A | CA068981 | RYR1 | c.7027+20G>A (n.7027+20G>A) c.7024+20G>A (n.7024+20G>A) c.479+20G>A n.7110+20G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
19 | g.38499263G= | CA2335052650 | RYR1 | c.7027+20G= (n.7027+20G=) c.7024+20G= (n.7024+20G=) c.479+20G= n.7110+20G= | |
19 | g.38499264del | CA2335052651 | RYR1 | c.7027+21del (n.7027+21del) c.7024+21del (n.7024+21del) c.479+21del n.7110+21del | ClinVar dbSNP |
19 | g.38499265C= | CA2335052652 | RYR1 | c.7027+22C= (n.7027+22C=) c.7024+22C= (n.7024+22C=) c.479+22C= n.7110+22C= | |
19 | g.38499265C>T | CA068985 | RYR1 | c.7027+22C>T (n.7027+22C>T) c.7024+22C>T (n.7024+22C>T) c.479+22C>T n.7110+22C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38499266A>G | CA2576771051 | RYR1 | c.7027+23A>G (n.7027+23A>G) c.7024+23A>G (n.7024+23A>G) c.479+23A>G n.7110+23A>G | gnomAD v4 |
19 | g.38499267G>A | CA2584899844 | RYR1 | c.7027+24G>A (n.7027+24G>A) c.7024+24G>A (n.7024+24G>A) c.479+24G>A n.7110+24G>A | gnomAD v4 |
19 | g.38499268A= | CA2335052653 | RYR1 | c.7027+25A= (n.7027+25A=) c.7024+25A= (n.7024+25A=) c.479+25A= n.7110+25A= | |
19 | g.38499268A>G | CA2335052654 | RYR1 | c.7027+25A>G (n.7027+25A>G) c.7024+25A>G (n.7024+25A>G) c.479+25A>G n.7110+25A>G | dbSNP |
19 | g.38499269G>A | CA2584899845 | RYR1 | c.7027+26G>A (n.7027+26G>A) c.7024+26G>A (n.7024+26G>A) c.479+26G>A n.7110+26G>A | gnomAD v4 |
19 | g.38499269G= | CA2335052655 | RYR1 | c.7027+26G= (n.7027+26G=) c.7024+26G= (n.7024+26G=) c.479+26G= n.7110+26G= | |
19 | g.38499269_38499270insTA | CA068987 | RYR1 | c.7027+26_7027+27insTA (n.7027+26_7027+27insTA) c.7024+26_7024+27insTA (n.7024+26_7024+27insTA) c.479+26_479+27insTA n.7110+26_7110+27insTA | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38499270C>A | CA2581382499 | RYR1 | c.7027+27C>A (n.7027+27C>A) c.7024+27C>A (n.7024+27C>A) c.479+27C>A n.7110+27C>A | gnomAD v4 |
19 | g.38499270C= | CA2335052656 | RYR1 | c.7027+27C= (n.7027+27C=) c.7024+27C= (n.7024+27C=) c.479+27C= n.7110+27C= | |
19 | g.38499270C>G | CA2581382500 | RYR1 | c.7027+27C>G (n.7027+27C>G) c.7024+27C>G (n.7024+27C>G) c.479+27C>G n.7110+27C>G | |
19 | g.38499270C>T | CA024667 | RYR1 | c.7027+27C>T (n.7027+27C>T) c.7024+27C>T (n.7024+27C>T) c.479+27C>T n.7110+27C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499271G>A | CA068991 | RYR1 | c.7027+28G>A (n.7027+28G>A) c.7024+28G>A (n.7024+28G>A) c.479+28G>A n.7110+28G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499271G= | CA2335052657 | RYR1 | c.7027+28G= (n.7027+28G=) c.7024+28G= (n.7024+28G=) c.479+28G= n.7110+28G= | |
19 | g.38499272G>A | CA2814346090 | RYR1 | c.7027+29G>A (n.7027+29G>A) c.7024+29G>A (n.7024+29G>A) c.479+29G>A n.7110+29G>A | |
19 | g.38499273G>A | CA632874624 | RYR1 | c.7027+30G>A (n.7027+30G>A) c.7024+30G>A (n.7024+30G>A) c.479+30G>A n.7110+30G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499273G= | CA2335052659 | RYR1 | c.7027+30G= (n.7027+30G=) c.7024+30G= (n.7024+30G=) c.479+30G= n.7110+30G= | |
19 | g.38499273G>T | CA2335052658 | RYR1 | c.7027+30G>T (n.7027+30G>T) c.7024+30G>T (n.7024+30G>T) c.479+30G>T n.7110+30G>T | dbSNP |
19 | g.38499276G>A | CA068992 | RYR1 | c.7027+33G>A (n.7027+33G>A) c.7024+33G>A (n.7024+33G>A) c.479+33G>A n.7110+33G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38499276G= | CA2335052660 | RYR1 | c.7027+33G= (n.7027+33G=) c.7024+33G= (n.7024+33G=) c.479+33G= n.7110+33G= | |
19 | g.38499278A= | CA2335052661 | RYR1 | c.7027+35A= (n.7027+35A=) c.7024+35A= (n.7024+35A=) c.479+35A= n.7110+35A= | |
19 | g.38499278A>G | CA068994 | RYR1 | c.7027+35A>G (n.7027+35A>G) c.7024+35A>G (n.7024+35A>G) c.479+35A>G n.7110+35A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38499280G>A | CA2584899846 | RYR1 | c.7027+37G>A (n.7027+37G>A) c.7024+37G>A (n.7024+37G>A) c.479+37G>A n.7110+37G>A | gnomAD v4 |
19 | g.38499282A>T | CA2576771052 | RYR1 | c.7027+39A>T (n.7027+39A>T) c.7024+39A>T (n.7024+39A>T) c.479+39A>T n.7110+39A>T | |
19 | g.38499283G>A | CA308107414 | RYR1 | c.7027+40G>A (n.7027+40G>A) c.7024+40G>A (n.7024+40G>A) c.479+40G>A n.7110+40G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38499283G= | CA2335052662 | RYR1 | c.7027+40G= (n.7027+40G=) c.7024+40G= (n.7024+40G=) c.479+40G= n.7110+40G= | |
19 | g.38499284T>G | CA2335052664 | RYR1 | c.7027+41T>G (n.7027+41T>G) c.7024+41T>G (n.7024+41T>G) c.479+41T>G n.7110+41T>G | dbSNP |
19 | g.38499284T= | CA2335052663 | RYR1 | c.7027+41T= (n.7027+41T=) c.7024+41T= (n.7024+41T=) c.479+41T= n.7110+41T= | |
19 | g.38499286A>C | CA2584899847 | RYR1 | c.7027+43A>C (n.7027+43A>C) c.7024+43A>C (n.7024+43A>C) c.479+43A>C n.7110+43A>C | gnomAD v4 |
19 | g.38499288del | CA2736029628 | RYR1 | c.7027+45del (n.7027+45del) c.7024+45del (n.7024+45del) c.479+45del n.7110+45del | dbSNP |
19 | g.38499289G>A | CA2335052666 | RYR1 | c.7027+46G>A (n.7027+46G>A) c.7024+46G>A (n.7024+46G>A) c.479+46G>A n.7110+46G>A | dbSNP |
19 | g.38499289G= | CA2335052665 | RYR1 | c.7027+46G= (n.7027+46G=) c.7024+46G= (n.7024+46G=) c.479+46G= n.7110+46G= | |
19 | g.38499290G>A | CA2335052668 | RYR1 | c.7027+47G>A (n.7027+47G>A) c.7024+47G>A (n.7024+47G>A) c.479+47G>A n.7110+47G>A | dbSNP |
19 | g.38499290G= | CA2335052667 | RYR1 | c.7027+47G= (n.7027+47G=) c.7024+47G= (n.7024+47G=) c.479+47G= n.7110+47G= | |
19 | g.38499292C>A | CA2584899848 | RYR1 | c.7027+49C>A (n.7027+49C>A) c.7024+49C>A (n.7024+49C>A) c.479+49C>A n.7110+49C>A | gnomAD v4 |
19 | g.38499296C= | CA2335052669 | RYR1 | c.7027+53C= (n.7027+53C=) c.7024+53C= (n.7024+53C=) c.479+53C= n.7110+53C= | |
19 | g.38499296C>T | CA308107421 | RYR1 | c.7027+53C>T (n.7027+53C>T) c.7024+53C>T (n.7024+53C>T) c.479+53C>T n.7110+53C>T | dbSNP gnomAD v4 |
19 | g.38499298C>A | CA2584899849 | RYR1 | c.7027+55C>A (n.7027+55C>A) c.7024+55C>A (n.7024+55C>A) c.479+55C>A n.7110+55C>A | gnomAD v4 |
19 | g.38499298C= | CA2335052670 | RYR1 | c.7027+55C= (n.7027+55C=) c.7024+55C= (n.7024+55C=) c.479+55C= n.7110+55C= | |
19 | g.38499298C>G | CA995715361 | RYR1 | c.7027+55C>G (n.7027+55C>G) c.7024+55C>G (n.7024+55C>G) c.479+55C>G n.7110+55C>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38499298C>T | CA2735915860 | RYR1 | c.7027+55C>T (n.7027+55C>T) c.7024+55C>T (n.7024+55C>T) c.479+55C>T n.7110+55C>T | dbSNP |
19 | g.38499299C>A | CA2584899850 | RYR1 | c.7027+56C>A (n.7027+56C>A) c.7024+56C>A (n.7024+56C>A) c.479+56C>A n.7110+56C>A | gnomAD v4 |
19 | g.38499299C= | CA2335052671 | RYR1 | c.7027+56C= (n.7027+56C=) c.7024+56C= (n.7024+56C=) c.479+56C= n.7110+56C= | |
19 | g.38499299C>T | CA882060612 | RYR1 | c.7027+56C>T (n.7027+56C>T) c.7024+56C>T (n.7024+56C>T) c.479+56C>T n.7110+56C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38499300T>G | CA2584899851 | RYR1 | c.7027+57T>G (n.7027+57T>G) c.7024+57T>G (n.7024+57T>G) c.479+57T>G n.7110+57T>G | gnomAD v4 |
19 | g.38499301C>A | CA2584899852 | RYR1 | c.7027+58C>A (n.7027+58C>A) c.7024+58C>A (n.7024+58C>A) c.479+58C>A n.7110+58C>A | gnomAD v4 |
19 | g.38499301C= | CA2335052672 | RYR1 | c.7027+58C= (n.7027+58C=) c.7024+58C= (n.7024+58C=) c.479+58C= n.7110+58C= | |
19 | g.38499301C>T | CA995715363 | RYR1 | c.7027+58C>T (n.7027+58C>T) c.7024+58C>T (n.7024+58C>T) c.479+58C>T n.7110+58C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38499303C>A | CA2584899853 | RYR1 | c.7027+60C>A (n.7027+60C>A) c.7024+60C>A (n.7024+60C>A) c.479+60C>A n.7110+60C>A | gnomAD v4 |
19 | g.38499303C= | CA2335052673 | RYR1 | c.7027+60C= (n.7027+60C=) c.7024+60C= (n.7024+60C=) c.479+60C= n.7110+60C= | |
19 | g.38499303C>G | CA2584899854 | RYR1 | c.7027+60C>G (n.7027+60C>G) c.7024+60C>G (n.7024+60C>G) c.479+60C>G n.7110+60C>G | gnomAD v4 |
19 | g.38499303C>T | CA308107423 | RYR1 | c.7027+60C>T (n.7027+60C>T) c.7024+60C>T (n.7024+60C>T) c.479+60C>T n.7110+60C>T | dbSNP |