WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.237770827G>A | CA007059 | RYR2 | c.*2589G>A (n.*2589G>A) c.11485G>A (p.Asp3829Asn) c.11518G>A (p.Asp3840Asn) c.3674G>A c.11497G>A (p.Asp3833Asn) c.1550G>A c.11449G>A (p.Asp3817Asn) n.2692G>A c.11551G>A (p.Asp3851Asn) c.11548G>A (p.Asp3850Asn) c.11527G>A (p.Asp3843Asn) c.11521G>A (p.Asp3841Asn) c.11515G>A (p.Asp3839Asn) c.11491G>A (p.Asp3831Asn) c.11314G>A (p.Asp3772Asn) c.11458G>A (p.Asp3820Asn) c.11530G>A (p.Asp3844Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.237770827G>C | CA345406659 | RYR2 | c.*2589G>C (n.*2589G>C) c.11485G>C (p.Asp3829His) c.11518G>C (p.Asp3840His) c.3674G>C c.11497G>C (p.Asp3833His) c.1550G>C c.11449G>C (p.Asp3817His) n.2692G>C c.11551G>C (p.Asp3851His) c.11548G>C (p.Asp3850His) c.11527G>C (p.Asp3843His) c.11521G>C (p.Asp3841His) c.11515G>C (p.Asp3839His) c.11491G>C (p.Asp3831His) c.11314G>C (p.Asp3772His) c.11458G>C (p.Asp3820His) c.11530G>C (p.Asp3844His) | gnomAD v4 |
| 1 | g.237770827G= | CA2487477021 | RYR2 | c.*2589G= (n.*2589G=) c.11485G= (p.Asp3829=) c.11518G= (p.Asp3840=) c.3674G= c.11497G= (p.Asp3833=) c.1550G= c.11449G= (p.Asp3817=) n.2692G= c.11551G= (p.Asp3851=) c.11548G= (p.Asp3850=) c.11527G= (p.Asp3843=) c.11521G= (p.Asp3841=) c.11515G= (p.Asp3839=) c.11491G= (p.Asp3831=) c.11314G= (p.Asp3772=) c.11458G= (p.Asp3820=) c.11530G= (p.Asp3844=) | |
| 1 | g.237770827G>T | CA345406660 | RYR2 | c.*2589G>T (n.*2589G>T) c.11485G>T (p.Asp3829Tyr) c.11518G>T (p.Asp3840Tyr) c.3674G>T c.11497G>T (p.Asp3833Tyr) c.1550G>T c.11449G>T (p.Asp3817Tyr) n.2692G>T c.11551G>T (p.Asp3851Tyr) c.11548G>T (p.Asp3850Tyr) c.11527G>T (p.Asp3843Tyr) c.11521G>T (p.Asp3841Tyr) c.11515G>T (p.Asp3839Tyr) c.11491G>T (p.Asp3831Tyr) c.11314G>T (p.Asp3772Tyr) c.11458G>T (p.Asp3820Tyr) c.11530G>T (p.Asp3844Tyr) | gnomAD v4 |
| 1 | g.237770828A= | CA2487477022 | RYR2 | c.*2590A= (n.*2590A=) c.11486A= (p.Asp3829=) c.11519A= (p.Asp3840=) c.3675A= c.11498A= (p.Asp3833=) c.1551A= c.11450A= (p.Asp3817=) n.2693A= c.11552A= (p.Asp3851=) c.11549A= (p.Asp3850=) c.11528A= (p.Asp3843=) c.11522A= (p.Asp3841=) c.11516A= (p.Asp3839=) c.11492A= (p.Asp3831=) c.11315A= (p.Asp3772=) c.11459A= (p.Asp3820=) c.11531A= (p.Asp3844=) | |
| 1 | g.237770828A>C | CA345406661 | RYR2 | c.*2590A>C (n.*2590A>C) c.11486A>C (p.Asp3829Ala) c.11519A>C (p.Asp3840Ala) c.3675A>C c.11498A>C (p.Asp3833Ala) c.1551A>C c.11450A>C (p.Asp3817Ala) n.2693A>C c.11552A>C (p.Asp3851Ala) c.11549A>C (p.Asp3850Ala) c.11528A>C (p.Asp3843Ala) c.11522A>C (p.Asp3841Ala) c.11516A>C (p.Asp3839Ala) c.11492A>C (p.Asp3831Ala) c.11315A>C (p.Asp3772Ala) c.11459A>C (p.Asp3820Ala) c.11531A>C (p.Asp3844Ala) | |
| 1 | g.237770828A>G | CA345406662 | RYR2 | c.*2590A>G (n.*2590A>G) c.11486A>G (p.Asp3829Gly) c.11519A>G (p.Asp3840Gly) c.3675A>G c.11498A>G (p.Asp3833Gly) c.1551A>G c.11450A>G (p.Asp3817Gly) n.2693A>G c.11552A>G (p.Asp3851Gly) c.11549A>G (p.Asp3850Gly) c.11528A>G (p.Asp3843Gly) c.11522A>G (p.Asp3841Gly) c.11516A>G (p.Asp3839Gly) c.11492A>G (p.Asp3831Gly) c.11315A>G (p.Asp3772Gly) c.11459A>G (p.Asp3820Gly) c.11531A>G (p.Asp3844Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.237770828A>T | CA345406663 | RYR2 | c.*2590A>T (n.*2590A>T) c.11486A>T (p.Asp3829Val) c.11519A>T (p.Asp3840Val) c.3675A>T c.11498A>T (p.Asp3833Val) c.1551A>T c.11450A>T (p.Asp3817Val) n.2693A>T c.11552A>T (p.Asp3851Val) c.11549A>T (p.Asp3850Val) c.11528A>T (p.Asp3843Val) c.11522A>T (p.Asp3841Val) c.11516A>T (p.Asp3839Val) c.11492A>T (p.Asp3831Val) c.11315A>T (p.Asp3772Val) c.11459A>T (p.Asp3820Val) c.11531A>T (p.Asp3844Val) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.237770829T>A | CA345406664 | RYR2 | c.*2591T>A (n.*2591T>A) c.11487T>A (p.Asp3829Glu) c.11520T>A (p.Asp3840Glu) c.3676T>A c.11499T>A (p.Asp3833Glu) c.1552T>A c.11451T>A (p.Asp3817Glu) n.2694T>A c.11553T>A (p.Asp3851Glu) c.11550T>A (p.Asp3850Glu) c.11529T>A (p.Asp3843Glu) c.11523T>A (p.Asp3841Glu) c.11517T>A (p.Asp3839Glu) c.11493T>A (p.Asp3831Glu) c.11316T>A (p.Asp3772Glu) c.11460T>A (p.Asp3820Glu) c.11532T>A (p.Asp3844Glu) | gnomAD v4 |
| 1 | g.237770829T>C | CA423822305 | RYR2 | c.*2591T>C (n.*2591T>C) c.11487T>C (p.Asp3829=) c.11520T>C (p.Asp3840=) c.3676T>C c.11499T>C (p.Asp3833=) c.1552T>C c.11451T>C (p.Asp3817=) n.2694T>C c.11553T>C (p.Asp3851=) c.11550T>C (p.Asp3850=) c.11529T>C (p.Asp3843=) c.11523T>C (p.Asp3841=) c.11517T>C (p.Asp3839=) c.11493T>C (p.Asp3831=) c.11316T>C (p.Asp3772=) c.11460T>C (p.Asp3820=) c.11532T>C (p.Asp3844=) | ClinVar gnomAD v4 |
| 1 | g.237770829T>G | CA345406665 | RYR2 | c.*2591T>G (n.*2591T>G) c.11487T>G (p.Asp3829Glu) c.11520T>G (p.Asp3840Glu) c.3676T>G c.11499T>G (p.Asp3833Glu) c.1552T>G c.11451T>G (p.Asp3817Glu) n.2694T>G c.11553T>G (p.Asp3851Glu) c.11550T>G (p.Asp3850Glu) c.11529T>G (p.Asp3843Glu) c.11523T>G (p.Asp3841Glu) c.11517T>G (p.Asp3839Glu) c.11493T>G (p.Asp3831Glu) c.11316T>G (p.Asp3772Glu) c.11460T>G (p.Asp3820Glu) c.11532T>G (p.Asp3844Glu) | |
| 1 | g.237770830G>A | CA345406666 | RYR2 | c.*2592G>A (n.*2592G>A) c.11488G>A (p.Glu3830Lys) c.11521G>A (p.Glu3841Lys) c.3677G>A c.11500G>A (p.Glu3834Lys) c.1553G>A c.11452G>A (p.Glu3818Lys) n.2695G>A c.11554G>A (p.Glu3852Lys) c.11551G>A (p.Glu3851Lys) c.11530G>A (p.Glu3844Lys) c.11524G>A (p.Glu3842Lys) c.11518G>A (p.Glu3840Lys) c.11494G>A (p.Glu3832Lys) c.11317G>A (p.Glu3773Lys) c.11461G>A (p.Glu3821Lys) c.11533G>A (p.Glu3845Lys) | gnomAD v4 |
| 1 | g.237770830G>C | CA345406667 | RYR2 | c.*2592G>C (n.*2592G>C) c.11488G>C (p.Glu3830Gln) c.11521G>C (p.Glu3841Gln) c.3677G>C c.11500G>C (p.Glu3834Gln) c.1553G>C c.11452G>C (p.Glu3818Gln) n.2695G>C c.11554G>C (p.Glu3852Gln) c.11551G>C (p.Glu3851Gln) c.11530G>C (p.Glu3844Gln) c.11524G>C (p.Glu3842Gln) c.11518G>C (p.Glu3840Gln) c.11494G>C (p.Glu3832Gln) c.11317G>C (p.Glu3773Gln) c.11461G>C (p.Glu3821Gln) c.11533G>C (p.Glu3845Gln) | |
| 1 | g.237770830G>T | CA345406668 | RYR2 | c.*2592G>T (n.*2592G>T) c.11488G>T (p.Glu3830Ter) c.11521G>T (p.Glu3841Ter) c.3677G>T c.11500G>T (p.Glu3834Ter) c.1553G>T c.11452G>T (p.Glu3818Ter) n.2695G>T c.11554G>T (p.Glu3852Ter) c.11551G>T (p.Glu3851Ter) c.11530G>T (p.Glu3844Ter) c.11524G>T (p.Glu3842Ter) c.11518G>T (p.Glu3840Ter) c.11494G>T (p.Glu3832Ter) c.11317G>T (p.Glu3773Ter) c.11461G>T (p.Glu3821Ter) c.11533G>T (p.Glu3845Ter) | gnomAD v4 |
| 1 | g.237770831A= | CA2487477023 | RYR2 | c.*2593A= (n.*2593A=) c.11489A= (p.Glu3830=) c.11522A= (p.Glu3841=) c.3678A= c.11501A= (p.Glu3834=) c.1554A= c.11453A= (p.Glu3818=) n.2696A= c.11555A= (p.Glu3852=) c.11552A= (p.Glu3851=) c.11531A= (p.Glu3844=) c.11525A= (p.Glu3842=) c.11519A= (p.Glu3840=) c.11495A= (p.Glu3832=) c.11318A= (p.Glu3773=) c.11462A= (p.Glu3821=) c.11534A= (p.Glu3845=) | |
| 1 | g.237770831A>C | CA345406669 | RYR2 | c.*2593A>C (n.*2593A>C) c.11489A>C (p.Glu3830Ala) c.11522A>C (p.Glu3841Ala) c.3678A>C c.11501A>C (p.Glu3834Ala) c.1554A>C c.11453A>C (p.Glu3818Ala) n.2696A>C c.11555A>C (p.Glu3852Ala) c.11552A>C (p.Glu3851Ala) c.11531A>C (p.Glu3844Ala) c.11525A>C (p.Glu3842Ala) c.11519A>C (p.Glu3840Ala) c.11495A>C (p.Glu3832Ala) c.11318A>C (p.Glu3773Ala) c.11462A>C (p.Glu3821Ala) c.11534A>C (p.Glu3845Ala) | dbSNP gnomAD v4 |
| 1 | g.237770831A>G | CA345406670 | RYR2 | c.*2593A>G (n.*2593A>G) c.11489A>G (p.Glu3830Gly) c.11522A>G (p.Glu3841Gly) c.3678A>G c.11501A>G (p.Glu3834Gly) c.1554A>G c.11453A>G (p.Glu3818Gly) n.2696A>G c.11555A>G (p.Glu3852Gly) c.11552A>G (p.Glu3851Gly) c.11531A>G (p.Glu3844Gly) c.11525A>G (p.Glu3842Gly) c.11519A>G (p.Glu3840Gly) c.11495A>G (p.Glu3832Gly) c.11318A>G (p.Glu3773Gly) c.11462A>G (p.Glu3821Gly) c.11534A>G (p.Glu3845Gly) | gnomAD v4 |
| 1 | g.237770831A>T | CA345406671 | RYR2 | c.*2593A>T (n.*2593A>T) c.11489A>T (p.Glu3830Val) c.11522A>T (p.Glu3841Val) c.3678A>T c.11501A>T (p.Glu3834Val) c.1554A>T c.11453A>T (p.Glu3818Val) n.2696A>T c.11555A>T (p.Glu3852Val) c.11552A>T (p.Glu3851Val) c.11531A>T (p.Glu3844Val) c.11525A>T (p.Glu3842Val) c.11519A>T (p.Glu3840Val) c.11495A>T (p.Glu3832Val) c.11318A>T (p.Glu3773Val) c.11462A>T (p.Glu3821Val) c.11534A>T (p.Glu3845Val) | |
| 1 | g.237770832G>A | CA423822306 | RYR2 | c.*2594G>A (n.*2594G>A) c.11490G>A (p.Glu3830=) c.11523G>A (p.Glu3841=) c.3679G>A c.11502G>A (p.Glu3834=) c.1555G>A c.11454G>A (p.Glu3818=) n.2697G>A c.11556G>A (p.Glu3852=) c.11553G>A (p.Glu3851=) c.11532G>A (p.Glu3844=) c.11526G>A (p.Glu3842=) c.11520G>A (p.Glu3840=) c.11496G>A (p.Glu3832=) c.11319G>A (p.Glu3773=) c.11463G>A (p.Glu3821=) c.11535G>A (p.Glu3845=) | gnomAD v4 |
| 1 | g.237770832G>C | CA345406672 | RYR2 | c.*2594G>C (n.*2594G>C) c.11490G>C (p.Glu3830Asp) c.11523G>C (p.Glu3841Asp) c.3679G>C c.11502G>C (p.Glu3834Asp) c.1555G>C c.11454G>C (p.Glu3818Asp) n.2697G>C c.11556G>C (p.Glu3852Asp) c.11553G>C (p.Glu3851Asp) c.11532G>C (p.Glu3844Asp) c.11526G>C (p.Glu3842Asp) c.11520G>C (p.Glu3840Asp) c.11496G>C (p.Glu3832Asp) c.11319G>C (p.Glu3773Asp) c.11463G>C (p.Glu3821Asp) c.11535G>C (p.Glu3845Asp) | |
| 1 | g.237770832G>T | CA345406673 | RYR2 | c.*2594G>T (n.*2594G>T) c.11490G>T (p.Glu3830Asp) c.11523G>T (p.Glu3841Asp) c.3679G>T c.11502G>T (p.Glu3834Asp) c.1555G>T c.11454G>T (p.Glu3818Asp) n.2697G>T c.11556G>T (p.Glu3852Asp) c.11553G>T (p.Glu3851Asp) c.11532G>T (p.Glu3844Asp) c.11526G>T (p.Glu3842Asp) c.11520G>T (p.Glu3840Asp) c.11496G>T (p.Glu3832Asp) c.11319G>T (p.Glu3773Asp) c.11463G>T (p.Glu3821Asp) c.11535G>T (p.Glu3845Asp) | |
| 1 | g.237770833T>A | CA345406674 | RYR2 | c.*2595T>A (n.*2595T>A) c.11491T>A (p.Phe3831Ile) c.11524T>A (p.Phe3842Ile) c.3680T>A c.11503T>A (p.Phe3835Ile) c.1556T>A c.11455T>A (p.Phe3819Ile) n.2698T>A c.11557T>A (p.Phe3853Ile) c.11554T>A (p.Phe3852Ile) c.11533T>A (p.Phe3845Ile) c.11527T>A (p.Phe3843Ile) c.11521T>A (p.Phe3841Ile) c.11497T>A (p.Phe3833Ile) c.11320T>A (p.Phe3774Ile) c.11464T>A (p.Phe3822Ile) c.11536T>A (p.Phe3846Ile) | |
| 1 | g.237770833T>C | CA345406676 | RYR2 | c.*2595T>C (n.*2595T>C) c.11491T>C (p.Phe3831Leu) c.11524T>C (p.Phe3842Leu) c.3680T>C c.11503T>C (p.Phe3835Leu) c.1556T>C c.11455T>C (p.Phe3819Leu) n.2698T>C c.11557T>C (p.Phe3853Leu) c.11554T>C (p.Phe3852Leu) c.11533T>C (p.Phe3845Leu) c.11527T>C (p.Phe3843Leu) c.11521T>C (p.Phe3841Leu) c.11497T>C (p.Phe3833Leu) c.11320T>C (p.Phe3774Leu) c.11464T>C (p.Phe3822Leu) c.11536T>C (p.Phe3846Leu) | ClinVar dbSNP gnomAD v4 |
| 1 | g.237770833T>G | CA345406675 | RYR2 | c.*2595T>G (n.*2595T>G) c.11491T>G (p.Phe3831Val) c.11524T>G (p.Phe3842Val) c.3680T>G c.11503T>G (p.Phe3835Val) c.1556T>G c.11455T>G (p.Phe3819Val) n.2698T>G c.11557T>G (p.Phe3853Val) c.11554T>G (p.Phe3852Val) c.11533T>G (p.Phe3845Val) c.11527T>G (p.Phe3843Val) c.11521T>G (p.Phe3841Val) c.11497T>G (p.Phe3833Val) c.11320T>G (p.Phe3774Val) c.11464T>G (p.Phe3822Val) c.11536T>G (p.Phe3846Val) | ClinVar |
| 1 | g.237770833T= | CA2487477024 | RYR2 | c.*2595T= (n.*2595T=) c.11491T= (p.Phe3831=) c.11524T= (p.Phe3842=) c.3680T= c.11503T= (p.Phe3835=) c.1556T= c.11455T= (p.Phe3819=) n.2698T= c.11557T= (p.Phe3853=) c.11554T= (p.Phe3852=) c.11533T= (p.Phe3845=) c.11527T= (p.Phe3843=) c.11521T= (p.Phe3841=) c.11497T= (p.Phe3833=) c.11320T= (p.Phe3774=) c.11464T= (p.Phe3822=) c.11536T= (p.Phe3846=) | |
| 1 | g.237770834T>A | CA345406677 | RYR2 | c.*2596T>A (n.*2596T>A) c.11492T>A (p.Phe3831Tyr) c.11525T>A (p.Phe3842Tyr) c.3681T>A c.11504T>A (p.Phe3835Tyr) c.1557T>A c.11456T>A (p.Phe3819Tyr) n.2699T>A c.11558T>A (p.Phe3853Tyr) c.11555T>A (p.Phe3852Tyr) c.11534T>A (p.Phe3845Tyr) c.11528T>A (p.Phe3843Tyr) c.11522T>A (p.Phe3841Tyr) c.11498T>A (p.Phe3833Tyr) c.11321T>A (p.Phe3774Tyr) c.11465T>A (p.Phe3822Tyr) c.11537T>A (p.Phe3846Tyr) | |
| 1 | g.237770834T>C | CA345406678 | RYR2 | c.*2596T>C (n.*2596T>C) c.11492T>C (p.Phe3831Ser) c.11525T>C (p.Phe3842Ser) c.3681T>C c.11504T>C (p.Phe3835Ser) c.1557T>C c.11456T>C (p.Phe3819Ser) n.2699T>C c.11558T>C (p.Phe3853Ser) c.11555T>C (p.Phe3852Ser) c.11534T>C (p.Phe3845Ser) c.11528T>C (p.Phe3843Ser) c.11522T>C (p.Phe3841Ser) c.11498T>C (p.Phe3833Ser) c.11321T>C (p.Phe3774Ser) c.11465T>C (p.Phe3822Ser) c.11537T>C (p.Phe3846Ser) | |
| 1 | g.237770834T>G | CA345406679 | RYR2 | c.*2596T>G (n.*2596T>G) c.11492T>G (p.Phe3831Cys) c.11525T>G (p.Phe3842Cys) c.3681T>G c.11504T>G (p.Phe3835Cys) c.1557T>G c.11456T>G (p.Phe3819Cys) n.2699T>G c.11558T>G (p.Phe3853Cys) c.11555T>G (p.Phe3852Cys) c.11534T>G (p.Phe3845Cys) c.11528T>G (p.Phe3843Cys) c.11522T>G (p.Phe3841Cys) c.11498T>G (p.Phe3833Cys) c.11321T>G (p.Phe3774Cys) c.11465T>G (p.Phe3822Cys) c.11537T>G (p.Phe3846Cys) | |
| 1 | g.237770835C>A | CA345406680 | RYR2 | c.*2597C>A (n.*2597C>A) c.11493C>A (p.Phe3831Leu) c.11526C>A (p.Phe3842Leu) c.3682C>A c.11505C>A (p.Phe3835Leu) c.1558C>A c.11457C>A (p.Phe3819Leu) n.2700C>A c.11559C>A (p.Phe3853Leu) c.11556C>A (p.Phe3852Leu) c.11535C>A (p.Phe3845Leu) c.11529C>A (p.Phe3843Leu) c.11523C>A (p.Phe3841Leu) c.11499C>A (p.Phe3833Leu) c.11322C>A (p.Phe3774Leu) c.11466C>A (p.Phe3822Leu) c.11538C>A (p.Phe3846Leu) | gnomAD v4 COSMIC COSMIC |
| 1 | g.237770835C= | CA2487477025 | RYR2 | c.*2597C= (n.*2597C=) c.11493C= (p.Phe3831=) c.11526C= (p.Phe3842=) c.3682C= c.11505C= (p.Phe3835=) c.1558C= c.11457C= (p.Phe3819=) n.2700C= c.11559C= (p.Phe3853=) c.11556C= (p.Phe3852=) c.11535C= (p.Phe3845=) c.11529C= (p.Phe3843=) c.11523C= (p.Phe3841=) c.11499C= (p.Phe3833=) c.11322C= (p.Phe3774=) c.11466C= (p.Phe3822=) c.11538C= (p.Phe3846=) | |
| 1 | g.237770835C>G | CA345406681 | RYR2 | c.*2597C>G (n.*2597C>G) c.11493C>G (p.Phe3831Leu) c.11526C>G (p.Phe3842Leu) c.3682C>G c.11505C>G (p.Phe3835Leu) c.1558C>G c.11457C>G (p.Phe3819Leu) n.2700C>G c.11559C>G (p.Phe3853Leu) c.11556C>G (p.Phe3852Leu) c.11535C>G (p.Phe3845Leu) c.11529C>G (p.Phe3843Leu) c.11523C>G (p.Phe3841Leu) c.11499C>G (p.Phe3833Leu) c.11322C>G (p.Phe3774Leu) c.11466C>G (p.Phe3822Leu) c.11538C>G (p.Phe3846Leu) | gnomAD v4 |
| 1 | g.237770835C>T | CA423822307 | RYR2 | c.*2597C>T (n.*2597C>T) c.11493C>T (p.Phe3831=) c.11526C>T (p.Phe3842=) c.3682C>T c.11505C>T (p.Phe3835=) c.1558C>T c.11457C>T (p.Phe3819=) n.2700C>T c.11559C>T (p.Phe3853=) c.11556C>T (p.Phe3852=) c.11535C>T (p.Phe3845=) c.11529C>T (p.Phe3843=) c.11523C>T (p.Phe3841=) c.11499C>T (p.Phe3833=) c.11322C>T (p.Phe3774=) c.11466C>T (p.Phe3822=) c.11538C>T (p.Phe3846=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.237770836A>C | CA345406682 | RYR2 | c.*2598A>C (n.*2598A>C) c.11494A>C (p.Thr3832Pro) c.11527A>C (p.Thr3843Pro) c.3683A>C c.11506A>C (p.Thr3836Pro) c.1559A>C c.11458A>C (p.Thr3820Pro) n.2701A>C c.11560A>C (p.Thr3854Pro) c.11557A>C (p.Thr3853Pro) c.11536A>C (p.Thr3846Pro) c.11530A>C (p.Thr3844Pro) c.11524A>C (p.Thr3842Pro) c.11500A>C (p.Thr3834Pro) c.11323A>C (p.Thr3775Pro) c.11467A>C (p.Thr3823Pro) c.11539A>C (p.Thr3847Pro) | |
| 1 | g.237770836A>G | CA345406683 | RYR2 | c.*2598A>G (n.*2598A>G) c.11494A>G (p.Thr3832Ala) c.11527A>G (p.Thr3843Ala) c.3683A>G c.11506A>G (p.Thr3836Ala) c.1559A>G c.11458A>G (p.Thr3820Ala) n.2701A>G c.11560A>G (p.Thr3854Ala) c.11557A>G (p.Thr3853Ala) c.11536A>G (p.Thr3846Ala) c.11530A>G (p.Thr3844Ala) c.11524A>G (p.Thr3842Ala) c.11500A>G (p.Thr3834Ala) c.11323A>G (p.Thr3775Ala) c.11467A>G (p.Thr3823Ala) c.11539A>G (p.Thr3847Ala) | gnomAD v4 |
| 1 | g.237770836A>T | CA345406684 | RYR2 | c.*2598A>T (n.*2598A>T) c.11494A>T (p.Thr3832Ser) c.11527A>T (p.Thr3843Ser) c.3683A>T c.11506A>T (p.Thr3836Ser) c.1559A>T c.11458A>T (p.Thr3820Ser) n.2701A>T c.11560A>T (p.Thr3854Ser) c.11557A>T (p.Thr3853Ser) c.11536A>T (p.Thr3846Ser) c.11530A>T (p.Thr3844Ser) c.11524A>T (p.Thr3842Ser) c.11500A>T (p.Thr3834Ser) c.11323A>T (p.Thr3775Ser) c.11467A>T (p.Thr3823Ser) c.11539A>T (p.Thr3847Ser) | |
| 1 | g.237770837C>A | CA345406685 | RYR2 | c.*2599C>A (n.*2599C>A) c.11495C>A (p.Thr3832Asn) c.11528C>A (p.Thr3843Asn) c.3684C>A c.11507C>A (p.Thr3836Asn) c.1560C>A c.11459C>A (p.Thr3820Asn) n.2702C>A c.11561C>A (p.Thr3854Asn) c.11558C>A (p.Thr3853Asn) c.11537C>A (p.Thr3846Asn) c.11531C>A (p.Thr3844Asn) c.11525C>A (p.Thr3842Asn) c.11501C>A (p.Thr3834Asn) c.11324C>A (p.Thr3775Asn) c.11468C>A (p.Thr3823Asn) c.11540C>A (p.Thr3847Asn) | gnomAD v4 |
| 1 | g.237770837C= | CA2487477026 | RYR2 | c.*2599C= (n.*2599C=) c.11495C= (p.Thr3832=) c.11528C= (p.Thr3843=) c.3684C= c.11507C= (p.Thr3836=) c.1560C= c.11459C= (p.Thr3820=) n.2702C= c.11561C= (p.Thr3854=) c.11558C= (p.Thr3853=) c.11537C= (p.Thr3846=) c.11531C= (p.Thr3844=) c.11525C= (p.Thr3842=) c.11501C= (p.Thr3834=) c.11324C= (p.Thr3775=) c.11468C= (p.Thr3823=) c.11540C= (p.Thr3847=) | |
| 1 | g.237770837C>G | CA345406686 | RYR2 | c.*2599C>G (n.*2599C>G) c.11495C>G (p.Thr3832Ser) c.11528C>G (p.Thr3843Ser) c.3684C>G c.11507C>G (p.Thr3836Ser) c.1560C>G c.11459C>G (p.Thr3820Ser) n.2702C>G c.11561C>G (p.Thr3854Ser) c.11558C>G (p.Thr3853Ser) c.11537C>G (p.Thr3846Ser) c.11531C>G (p.Thr3844Ser) c.11525C>G (p.Thr3842Ser) c.11501C>G (p.Thr3834Ser) c.11324C>G (p.Thr3775Ser) c.11468C>G (p.Thr3823Ser) c.11540C>G (p.Thr3847Ser) | |
| 1 | g.237770837C>T | CA345406687 | RYR2 | c.*2599C>T (n.*2599C>T) c.11495C>T (p.Thr3832Ile) c.11528C>T (p.Thr3843Ile) c.3684C>T c.11507C>T (p.Thr3836Ile) c.1560C>T c.11459C>T (p.Thr3820Ile) n.2702C>T c.11561C>T (p.Thr3854Ile) c.11558C>T (p.Thr3853Ile) c.11537C>T (p.Thr3846Ile) c.11531C>T (p.Thr3844Ile) c.11525C>T (p.Thr3842Ile) c.11501C>T (p.Thr3834Ile) c.11324C>T (p.Thr3775Ile) c.11468C>T (p.Thr3823Ile) c.11540C>T (p.Thr3847Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.237770838C>A | CA423822308 | RYR2 | c.*2600C>A (n.*2600C>A) c.11496C>A (p.Thr3832=) c.11529C>A (p.Thr3843=) c.3685C>A c.11508C>A (p.Thr3836=) c.1561C>A c.11460C>A (p.Thr3820=) n.2703C>A c.11562C>A (p.Thr3854=) c.11559C>A (p.Thr3853=) c.11538C>A (p.Thr3846=) c.11532C>A (p.Thr3844=) c.11526C>A (p.Thr3842=) c.11502C>A (p.Thr3834=) c.11325C>A (p.Thr3775=) c.11469C>A (p.Thr3823=) c.11541C>A (p.Thr3847=) | gnomAD v4 |
| 1 | g.237770838C= | CA2487477027 | RYR2 | c.*2600C= (n.*2600C=) c.11496C= (p.Thr3832=) c.11529C= (p.Thr3843=) c.3685C= c.11508C= (p.Thr3836=) c.1561C= c.11460C= (p.Thr3820=) n.2703C= c.11562C= (p.Thr3854=) c.11559C= (p.Thr3853=) c.11538C= (p.Thr3846=) c.11532C= (p.Thr3844=) c.11526C= (p.Thr3842=) c.11502C= (p.Thr3834=) c.11325C= (p.Thr3775=) c.11469C= (p.Thr3823=) c.11541C= (p.Thr3847=) | |
| 1 | g.237770838C>G | CA423822309 | RYR2 | c.*2600C>G (n.*2600C>G) c.11496C>G (p.Thr3832=) c.11529C>G (p.Thr3843=) c.3685C>G c.11508C>G (p.Thr3836=) c.1561C>G c.11460C>G (p.Thr3820=) n.2703C>G c.11562C>G (p.Thr3854=) c.11559C>G (p.Thr3853=) c.11538C>G (p.Thr3846=) c.11532C>G (p.Thr3844=) c.11526C>G (p.Thr3842=) c.11502C>G (p.Thr3834=) c.11325C>G (p.Thr3775=) c.11469C>G (p.Thr3823=) c.11541C>G (p.Thr3847=) | gnomAD v4 |
| 1 | g.237770838C>T | CA39815823 | RYR2 | c.*2600C>T (n.*2600C>T) c.11496C>T (p.Thr3832=) c.11529C>T (p.Thr3843=) c.3685C>T c.11508C>T (p.Thr3836=) c.1561C>T c.11460C>T (p.Thr3820=) n.2703C>T c.11562C>T (p.Thr3854=) c.11559C>T (p.Thr3853=) c.11538C>T (p.Thr3846=) c.11532C>T (p.Thr3844=) c.11526C>T (p.Thr3842=) c.11502C>T (p.Thr3834=) c.11325C>T (p.Thr3775=) c.11469C>T (p.Thr3823=) c.11541C>T (p.Thr3847=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.237770839T>A | CA345406690 | RYR2 | c.*2601T>A (n.*2601T>A) c.11497T>A (p.Cys3833Ser) c.11530T>A (p.Cys3844Ser) c.3686T>A c.11509T>A (p.Cys3837Ser) c.1562T>A c.11461T>A (p.Cys3821Ser) n.2704T>A c.11563T>A (p.Cys3855Ser) c.11560T>A (p.Cys3854Ser) c.11539T>A (p.Cys3847Ser) c.11533T>A (p.Cys3845Ser) c.11527T>A (p.Cys3843Ser) c.11503T>A (p.Cys3835Ser) c.11326T>A (p.Cys3776Ser) c.11470T>A (p.Cys3824Ser) c.11542T>A (p.Cys3848Ser) | ClinVar gnomAD v4 |
| 1 | g.237770839T>C | CA345406689 | RYR2 | c.*2601T>C (n.*2601T>C) c.11497T>C (p.Cys3833Arg) c.11530T>C (p.Cys3844Arg) c.3686T>C c.11509T>C (p.Cys3837Arg) c.1562T>C c.11461T>C (p.Cys3821Arg) n.2704T>C c.11563T>C (p.Cys3855Arg) c.11560T>C (p.Cys3854Arg) c.11539T>C (p.Cys3847Arg) c.11533T>C (p.Cys3845Arg) c.11527T>C (p.Cys3843Arg) c.11503T>C (p.Cys3835Arg) c.11326T>C (p.Cys3776Arg) c.11470T>C (p.Cys3824Arg) c.11542T>C (p.Cys3848Arg) | gnomAD v4 |
| 1 | g.237770839T>G | CA345406688 | RYR2 | c.*2601T>G (n.*2601T>G) c.11497T>G (p.Cys3833Gly) c.11530T>G (p.Cys3844Gly) c.3686T>G c.11509T>G (p.Cys3837Gly) c.1562T>G c.11461T>G (p.Cys3821Gly) n.2704T>G c.11563T>G (p.Cys3855Gly) c.11560T>G (p.Cys3854Gly) c.11539T>G (p.Cys3847Gly) c.11533T>G (p.Cys3845Gly) c.11527T>G (p.Cys3843Gly) c.11503T>G (p.Cys3835Gly) c.11326T>G (p.Cys3776Gly) c.11470T>G (p.Cys3824Gly) c.11542T>G (p.Cys3848Gly) | |
| 1 | g.237770840G>A | CA345406691 | RYR2 | c.*2602G>A (n.*2602G>A) c.11498G>A (p.Cys3833Tyr) c.11531G>A (p.Cys3844Tyr) c.3687G>A c.11510G>A (p.Cys3837Tyr) c.1563G>A c.11462G>A (p.Cys3821Tyr) n.2705G>A c.11564G>A (p.Cys3855Tyr) c.11561G>A (p.Cys3854Tyr) c.11540G>A (p.Cys3847Tyr) c.11534G>A (p.Cys3845Tyr) c.11528G>A (p.Cys3843Tyr) c.11504G>A (p.Cys3835Tyr) c.11327G>A (p.Cys3776Tyr) c.11471G>A (p.Cys3824Tyr) c.11543G>A (p.Cys3848Tyr) | gnomAD v4 |
| 1 | g.237770840G>C | CA345406692 | RYR2 | c.*2602G>C (n.*2602G>C) c.11498G>C (p.Cys3833Ser) c.11531G>C (p.Cys3844Ser) c.3687G>C c.11510G>C (p.Cys3837Ser) c.1563G>C c.11462G>C (p.Cys3821Ser) n.2705G>C c.11564G>C (p.Cys3855Ser) c.11561G>C (p.Cys3854Ser) c.11540G>C (p.Cys3847Ser) c.11534G>C (p.Cys3845Ser) c.11528G>C (p.Cys3843Ser) c.11504G>C (p.Cys3835Ser) c.11327G>C (p.Cys3776Ser) c.11471G>C (p.Cys3824Ser) c.11543G>C (p.Cys3848Ser) | COSMIC COSMIC |
| 1 | g.237770840G>T | CA345406693 | RYR2 | c.*2602G>T (n.*2602G>T) c.11498G>T (p.Cys3833Phe) c.11531G>T (p.Cys3844Phe) c.3687G>T c.11510G>T (p.Cys3837Phe) c.1563G>T c.11462G>T (p.Cys3821Phe) n.2705G>T c.11564G>T (p.Cys3855Phe) c.11561G>T (p.Cys3854Phe) c.11540G>T (p.Cys3847Phe) c.11534G>T (p.Cys3845Phe) c.11528G>T (p.Cys3843Phe) c.11504G>T (p.Cys3835Phe) c.11327G>T (p.Cys3776Phe) c.11471G>T (p.Cys3824Phe) c.11543G>T (p.Cys3848Phe) | |
| 1 | g.237770841T>A | CA345406694 | RYR2 | c.*2603T>A (n.*2603T>A) c.11499T>A (p.Cys3833Ter) c.11532T>A (p.Cys3844Ter) c.3688T>A c.11511T>A (p.Cys3837Ter) c.1564T>A c.11463T>A (p.Cys3821Ter) n.2706T>A c.11565T>A (p.Cys3855Ter) c.11562T>A (p.Cys3854Ter) c.11541T>A (p.Cys3847Ter) c.11535T>A (p.Cys3845Ter) c.11529T>A (p.Cys3843Ter) c.11505T>A (p.Cys3835Ter) c.11328T>A (p.Cys3776Ter) c.11472T>A (p.Cys3824Ter) c.11544T>A (p.Cys3848Ter) |