| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38440823_38440840del | CA2576769777 | RYR1 | c.124_141del (p.Gly42_Phe47del) n.207_224del | gnomAD v4 |
| 19 | g.38440829C>A | CA405671979 | RYR1 | c.130C>A (p.Arg44Ser) n.213C>A | |
| 19 | g.38440829C= | CA2335024372 | RYR1 | c.130C= (p.Arg44=) n.213C= | |
| 19 | g.38440829C>G | CA405671975 | RYR1 | c.130C>G (p.Arg44Gly) n.213C>G | |
| 19 | g.38440829C>T | CA024034 | RYR1 | c.130C>T (p.Arg44Cys) n.213C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.38440830G>A | CA024037 | RYR1 | c.131G>A (p.Arg44His) n.214G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38440830G>C | CA405671989 | RYR1 | c.131G>C (p.Arg44Pro) n.214G>C | ClinVar dbSNP gnomAD v4 |
| 19 | g.38440830G= | CA2335024373 | RYR1 | c.131G= (p.Arg44=) n.214G= | |
| 19 | g.38440830G>T | CA405671996 | RYR1 | c.131G>T (p.Arg44Leu) n.214G>T | |
| 19 | g.38440831C>A | CA507238599 | RYR1 | c.132C>A (p.Arg44=) n.215C>A | |
| 19 | g.38440831C>G | CA507238592 | RYR1 | c.132C>G (p.Arg44=) n.215C>G | |
| 19 | g.38440831C>T | CA507238594 | RYR1 | c.132C>T (p.Arg44=) n.215C>T | gnomAD v4 |
| 19 | g.38440832C>A | CA405671999 | RYR1 | c.133C>A (p.Leu45Met) n.216C>A | |
| 19 | g.38440832C= | CA2335024374 | RYR1 | c.133C= (p.Leu45=) n.216C= | |
| 19 | g.38440832C>G | CA405672000 | RYR1 | c.133C>G (p.Leu45Val) n.216C>G | ClinVar dbSNP gnomAD v4 |
| 19 | g.38440832C>T | CA507238601 | RYR1 | c.133C>T (p.Leu45=) n.216C>T | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38440833T>A | CA405672002 | RYR1 | c.134T>A (p.Leu45Gln) n.217T>A | |
| 19 | g.38440833T>C | CA405672003 | RYR1 | c.134T>C (p.Leu45Pro) n.217T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38440833T>G | CA405672004 | RYR1 | c.134T>G (p.Leu45Arg) n.217T>G | |
| 19 | g.38440833T= | CA2335024375 | RYR1 | c.134T= (p.Leu45=) n.217T= | |
| 19 | g.38440834G>A | CA507238602 | RYR1 | c.135G>A (p.Leu45=) n.218G>A | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38440834G>C | CA507238603 | RYR1 | c.135G>C (p.Leu45=) n.218G>C | |
| 19 | g.38440834G= | CA2335024376 | RYR1 | c.135G= (p.Leu45=) n.218G= | |
| 19 | g.38440834G>T | CA060227 | RYR1 | c.135G>T (p.Leu45=) n.218G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38440835T>A | CA405672006 | RYR1 | c.136T>A (p.Cys46Ser) n.219T>A | |
| 19 | g.38440835T>C | CA405672009 | RYR1 | c.136T>C (p.Cys46Arg) n.219T>C | |
| 19 | g.38440835T>G | CA405672010 | RYR1 | c.136T>G (p.Cys46Gly) n.219T>G | |
| 19 | g.38440836G>A | CA405672014 | RYR1 | c.137G>A (p.Cys46Tyr) n.220G>A | |
| 19 | g.38440836G>C | CA405672022 | RYR1 | c.137G>C (p.Cys46Ser) n.220G>C | |
| 19 | g.38440836G>T | CA405672016 | RYR1 | c.137G>T (p.Cys46Phe) n.220G>T | COSMIC |
| 19 | g.38440837C>A | CA405672027 | RYR1 | c.138C>A (p.Cys46Ter) n.221C>A | |
| 19 | g.38440837C>G | CA405672034 | RYR1 | c.138C>G (p.Cys46Trp) n.221C>G | |
| 19 | g.38440837C>T | CA507238604 | RYR1 | c.138C>T (p.Cys46=) n.221C>T | |
| 19 | g.38440838T>A | CA405672039 | RYR1 | c.139T>A (p.Phe47Ile) n.222T>A | |
| 19 | g.38440838T>C | CA405672042 | RYR1 | c.139T>C (p.Phe47Leu) n.222T>C | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38440838T>G | CA405672046 | RYR1 | c.139T>G (p.Phe47Val) n.222T>G | |
| 19 | g.38440838T= | CA2335024377 | RYR1 | c.139T= (p.Phe47=) n.222T= | |
| 19 | g.38440839T>A | CA405672056 | RYR1 | c.140T>A (p.Phe47Tyr) n.223T>A | |
| 19 | g.38440839T>C | CA405672058 | RYR1 | c.140T>C (p.Phe47Ser) n.223T>C | gnomAD v4 |
| 19 | g.38440839T>G | CA405672060 | RYR1 | c.140T>G (p.Phe47Cys) n.223T>G | |
| 19 | g.38440840C>A | CA405672061 | RYR1 | c.141C>A (p.Phe47Leu) n.224C>A | |
| 19 | g.38440840C>G | CA405672063 | RYR1 | c.141C>G (p.Phe47Leu) n.224C>G | |
| 19 | g.38440840C>T | CA507238609 | RYR1 | c.141C>T (p.Phe47=) n.224C>T | COSMIC |
| 19 | g.38440841C>A | CA405672068 | RYR1 | c.142C>A (p.Leu48Met) n.225C>A | |
| 19 | g.38440841C>G | CA405672071 | RYR1 | c.142C>G (p.Leu48Val) n.225C>G | |
| 19 | g.38440841C>T | CA507238612 | RYR1 | c.142C>T (p.Leu48=) n.225C>T | |
| 19 | g.38440842T>A | CA405672081 | RYR1 | c.143T>A (p.Leu48Gln) n.226T>A | |
| 19 | g.38440842T>C | CA405672079 | RYR1 | c.143T>C (p.Leu48Pro) n.226T>C | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38440842T>G | CA405672080 | RYR1 | c.143T>G (p.Leu48Arg) n.226T>G | |
| 19 | g.38440842T= | CA2335024378 | RYR1 | c.143T= (p.Leu48=) n.226T= |