| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38500655G>A | CA024787 | RYR1 | c.7373G>A (p.Arg2458His) c.7370G>A (p.Arg2457His) c.825G>A n.7456G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.38500655G>C | CA405670031 | RYR1 | c.7373G>C (p.Arg2458Pro) c.7370G>C (p.Arg2457Pro) c.825G>C n.7456G>C | |
| 19 | g.38500655G= | CA2335053362 | RYR1 | c.7373G= (p.Arg2458=) c.7370G= (p.Arg2457=) c.825G= n.7456G= | |
| 19 | g.38500655G>T | CA405670033 | RYR1 | c.7373G>T (p.Arg2458Leu) c.7370G>T (p.Arg2457Leu) c.825G>T n.7456G>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.38500656C>A | CA507243486 | RYR1 | c.7374C>A (p.Arg2458=) c.7371C>A (p.Arg2457=) c.826C>A n.7457C>A | |
| 19 | g.38500656C>G | CA507243488 | RYR1 | c.7374C>G (p.Arg2458=) c.7371C>G (p.Arg2457=) c.826C>G n.7457C>G | |
| 19 | g.38500656C>T | CA082407 | RYR1 | c.7374C>T (p.Arg2458=) c.7371C>T (p.Arg2457=) c.826C>T n.7457C>T | ClinVar gnomAD v4 |
| 19 | g.38500657T>A | CA405670035 | RYR1 | c.7375T>A (p.Ser2459Thr) c.7372T>A (p.Ser2458Thr) c.827T>A n.7458T>A | |
| 19 | g.38500657T>C | CA405670038 | RYR1 | c.7375T>C (p.Ser2459Pro) c.7372T>C (p.Ser2458Pro) c.827T>C n.7458T>C | ClinVar dbSNP |
| 19 | g.38500657T>G | CA405670037 | RYR1 | c.7375T>G (p.Ser2459Ala) c.7372T>G (p.Ser2458Ala) c.827T>G n.7458T>G | |
| 19 | g.38500657T= | CA2335053363 | RYR1 | c.7375T= (p.Ser2459=) c.7372T= (p.Ser2458=) c.827T= n.7458T= | |
| 19 | g.38500658C>A | CA405670040 | RYR1 | c.7376C>A (p.Ser2459Tyr) c.7373C>A (p.Ser2458Tyr) c.828C>A n.7459C>A | |
| 19 | g.38500658C>G | CA405670041 | RYR1 | c.7376C>G (p.Ser2459Cys) c.7373C>G (p.Ser2458Cys) c.828C>G n.7459C>G | |
| 19 | g.38500658C>T | CA405670043 | RYR1 | c.7376C>T (p.Ser2459Phe) c.7373C>T (p.Ser2458Phe) c.828C>T n.7459C>T | COSMIC |
| 19 | g.38500659C>A | CA507353943 | RYR1 | c.7377C>A (p.Ser2459=) c.7374C>A (p.Ser2458=) c.829C>A n.7460C>A | |
| 19 | g.38500659C>G | CA507353944 | RYR1 | c.7377C>G (p.Ser2459=) c.7374C>G (p.Ser2458=) c.829C>G n.7460C>G | |
| 19 | g.38500659C>T | CA507353945 | RYR1 | c.7377C>T (p.Ser2459=) c.7374C>T (p.Ser2458=) c.829C>T n.7460C>T | COSMIC |
| 19 | g.38500660C>A | CA405670044 | RYR1 | c.7378C>A (p.Leu2460Ile) c.7375C>A (p.Leu2459Ile) c.830C>A n.7461C>A | |
| 19 | g.38500660C>G | CA405670045 | RYR1 | c.7378C>G (p.Leu2460Val) c.7375C>G (p.Leu2459Val) c.830C>G n.7461C>G | |
| 19 | g.38500660C>T | CA405670047 | RYR1 | c.7378C>T (p.Leu2460Phe) c.7375C>T (p.Leu2459Phe) c.830C>T n.7461C>T | ClinVar dbSNP |
| 19 | g.38500661T>A | CA405670049 | RYR1 | c.7379T>A (p.Leu2460His) c.7376T>A (p.Leu2459His) c.831T>A n.7462T>A | |
| 19 | g.38500661T>C | CA405670050 | RYR1 | c.7379T>C (p.Leu2460Pro) c.7376T>C (p.Leu2459Pro) c.831T>C n.7462T>C | |
| 19 | g.38500661T>G | CA405670052 | RYR1 | c.7379T>G (p.Leu2460Arg) c.7376T>G (p.Leu2459Arg) c.831T>G n.7462T>G | |
| 19 | g.38500662T>A | CA507353947 | RYR1 | c.7380T>A (p.Leu2460=) c.7377T>A (p.Leu2459=) c.832T>A n.7463T>A | |
| 19 | g.38500662T>C | CA507353948 | RYR1 | c.7380T>C (p.Leu2460=) c.7377T>C (p.Leu2459=) c.832T>C n.7463T>C | |
| 19 | g.38500662T>G | CA507353946 | RYR1 | c.7380T>G (p.Leu2460=) c.7377T>G (p.Leu2459=) c.832T>G n.7463T>G | dbSNP |
| 19 | g.38500662T= | CA2335053364 | RYR1 | c.7380T= (p.Leu2460=) c.7377T= (p.Leu2459=) c.832T= n.7463T= | |
| 19 | g.38500663G>A | CA405670053 | RYR1 | c.7381G>A (p.Val2461Met) c.7378G>A (p.Val2460Met) c.833G>A n.7464G>A | |
| 19 | g.38500663G>C | CA405670055 | RYR1 | c.7381G>C (p.Val2461Leu) c.7378G>C (p.Val2460Leu) c.833G>C n.7464G>C | |
| 19 | g.38500663G>T | CA405670056 | RYR1 | c.7381G>T (p.Val2461Leu) c.7378G>T (p.Val2460Leu) c.833G>T n.7464G>T | |
| 19 | g.38500664T>A | CA405670058 | RYR1 | c.7382T>A (p.Val2461Glu) c.7379T>A (p.Val2460Glu) c.834T>A n.7465T>A | |
| 19 | g.38500664T>C | CA405670060 | RYR1 | c.7382T>C (p.Val2461Ala) c.7379T>C (p.Val2460Ala) c.834T>C n.7465T>C | |
| 19 | g.38500664T>G | CA405670059 | RYR1 | c.7382T>G (p.Val2461Gly) c.7379T>G (p.Val2460Gly) c.834T>G n.7465T>G | |
| 19 | g.38500665G>A | CA507353949 | RYR1 | c.7383G>A (p.Val2461=) c.7380G>A (p.Val2460=) c.835G>A n.7466G>A | |
| 19 | g.38500665G>C | CA507353951 | RYR1 | c.7383G>C (p.Val2461=) c.7380G>C (p.Val2460=) c.835G>C n.7466G>C | |
| 19 | g.38500665G= | CA2335053365 | RYR1 | c.7383G= (p.Val2461=) c.7380G= (p.Val2460=) c.835G= n.7466G= | |
| 19 | g.38500665G>T | CA507353952 | RYR1 | c.7383G>T (p.Val2461=) c.7380G>T (p.Val2460=) c.835G>T n.7466G>T | dbSNP gnomAD v2 |
| 19 | g.38500666C>A | CA405670062 | RYR1 | c.7384C>A (p.Pro2462Thr) c.7381C>A (p.Pro2461Thr) c.836C>A n.7467C>A | gnomAD v4 |
| 19 | g.38500666C>G | CA405670064 | RYR1 | c.7384C>G (p.Pro2462Ala) c.7381C>G (p.Pro2461Ala) c.836C>G n.7467C>G | |
| 19 | g.38500666C>T | CA405670066 | RYR1 | c.7384C>T (p.Pro2462Ser) c.7381C>T (p.Pro2461Ser) c.836C>T n.7467C>T | |
| 19 | g.38500667C>A | CA405670067 | RYR1 | c.7385C>A (p.Pro2462His) c.7382C>A (p.Pro2461His) c.837C>A n.7468C>A | |
| 19 | g.38500667C= | CA2335053366 | RYR1 | c.7385C= (p.Pro2462=) c.7382C= (p.Pro2461=) c.837C= n.7468C= | |
| 19 | g.38500667C>G | CA405670069 | RYR1 | c.7385C>G (p.Pro2462Arg) c.7382C>G (p.Pro2461Arg) c.837C>G n.7468C>G | |
| 19 | g.38500667C>T | CA069583 | RYR1 | c.7385C>T (p.Pro2462Leu) c.7382C>T (p.Pro2461Leu) c.837C>T n.7468C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38500668C>A | CA507353953 | RYR1 | c.7386C>A (p.Pro2462=) c.7383C>A (p.Pro2461=) c.838C>A n.7469C>A | |
| 19 | g.38500668C= | CA2335053367 | RYR1 | c.7386C= (p.Pro2462=) c.7383C= (p.Pro2461=) c.838C= n.7469C= | |
| 19 | g.38500668C>G | CA507353954 | RYR1 | c.7386C>G (p.Pro2462=) c.7383C>G (p.Pro2461=) c.838C>G n.7469C>G | ClinVar dbSNP gnomAD v4 |
| 19 | g.38500668C>T | CA069587 | RYR1 | c.7386C>T (p.Pro2462=) c.7383C>T (p.Pro2461=) c.838C>T n.7469C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38500669T>A | CA405670072 | RYR1 | c.7387T>A (p.Leu2463Met) c.7384T>A (p.Leu2462Met) c.839T>A n.7470T>A | |
| 19 | g.38500669T>C | CA507353955 | RYR1 | c.7387T>C (p.Leu2463=) c.7384T>C (p.Leu2462=) c.839T>C n.7470T>C | dbSNP |