| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |