UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.237784325C>A | CA345413745 | RYR2 | c.*3705C>A (n.*3705C>A) c.12601C>A (p.Gln4201Lys) c.12634C>A (p.Gln4212Lys) c.4790C>A c.12613C>A (p.Gln4205Lys) c.2666C>A c.12565C>A (p.Gln4189Lys) n.3808C>A c.12667C>A (p.Gln4223Lys) c.12664C>A (p.Gln4222Lys) c.12643C>A (p.Gln4215Lys) c.12637C>A (p.Gln4213Lys) c.12631C>A (p.Gln4211Lys) c.12607C>A (p.Gln4203Lys) c.12430C>A (p.Gln4144Lys) c.12574C>A (p.Gln4192Lys) c.12646C>A (p.Gln4216Lys) | |
| 1 | g.237784325C>G | CA345413746 | RYR2 | c.*3705C>G (n.*3705C>G) c.12601C>G (p.Gln4201Glu) c.12634C>G (p.Gln4212Glu) c.4790C>G c.12613C>G (p.Gln4205Glu) c.2666C>G c.12565C>G (p.Gln4189Glu) n.3808C>G c.12667C>G (p.Gln4223Glu) c.12664C>G (p.Gln4222Glu) c.12643C>G (p.Gln4215Glu) c.12637C>G (p.Gln4213Glu) c.12631C>G (p.Gln4211Glu) c.12607C>G (p.Gln4203Glu) c.12430C>G (p.Gln4144Glu) c.12574C>G (p.Gln4192Glu) c.12646C>G (p.Gln4216Glu) | |
| 1 | g.237784325C>T | CA345413747 | RYR2 | c.*3705C>T (n.*3705C>T) c.12601C>T (p.Gln4201Ter) c.12634C>T (p.Gln4212Ter) c.4790C>T c.12613C>T (p.Gln4205Ter) c.2666C>T c.12565C>T (p.Gln4189Ter) n.3808C>T c.12667C>T (p.Gln4223Ter) c.12664C>T (p.Gln4222Ter) c.12643C>T (p.Gln4215Ter) c.12637C>T (p.Gln4213Ter) c.12631C>T (p.Gln4211Ter) c.12607C>T (p.Gln4203Ter) c.12430C>T (p.Gln4144Ter) c.12574C>T (p.Gln4192Ter) c.12646C>T (p.Gln4216Ter) | |
| 1 | g.237784326A>C | CA345413748 | RYR2 | c.*3706A>C (n.*3706A>C) c.12602A>C (p.Gln4201Pro) c.12635A>C (p.Gln4212Pro) c.4791A>C c.12614A>C (p.Gln4205Pro) c.2667A>C c.12566A>C (p.Gln4189Pro) n.3809A>C c.12668A>C (p.Gln4223Pro) c.12665A>C (p.Gln4222Pro) c.12644A>C (p.Gln4215Pro) c.12638A>C (p.Gln4213Pro) c.12632A>C (p.Gln4211Pro) c.12608A>C (p.Gln4203Pro) c.12431A>C (p.Gln4144Pro) c.12575A>C (p.Gln4192Pro) c.12647A>C (p.Gln4216Pro) | |
| 1 | g.237784326A>G | CA345413749 | RYR2 | c.*3706A>G (n.*3706A>G) c.12602A>G (p.Gln4201Arg) c.12635A>G (p.Gln4212Arg) c.4791A>G c.12614A>G (p.Gln4205Arg) c.2667A>G c.12566A>G (p.Gln4189Arg) n.3809A>G c.12668A>G (p.Gln4223Arg) c.12665A>G (p.Gln4222Arg) c.12644A>G (p.Gln4215Arg) c.12638A>G (p.Gln4213Arg) c.12632A>G (p.Gln4211Arg) c.12608A>G (p.Gln4203Arg) c.12431A>G (p.Gln4144Arg) c.12575A>G (p.Gln4192Arg) c.12647A>G (p.Gln4216Arg) | ClinVar |
| 1 | g.237784326A>T | CA345413750 | RYR2 | c.*3706A>T (n.*3706A>T) c.12602A>T (p.Gln4201Leu) c.12635A>T (p.Gln4212Leu) c.4791A>T c.12614A>T (p.Gln4205Leu) c.2667A>T c.12566A>T (p.Gln4189Leu) n.3809A>T c.12668A>T (p.Gln4223Leu) c.12665A>T (p.Gln4222Leu) c.12644A>T (p.Gln4215Leu) c.12638A>T (p.Gln4213Leu) c.12632A>T (p.Gln4211Leu) c.12608A>T (p.Gln4203Leu) c.12431A>T (p.Gln4144Leu) c.12575A>T (p.Gln4192Leu) c.12647A>T (p.Gln4216Leu) | |
| 1 | g.237784327G>A | CA424032054 | RYR2 | c.*3707G>A (n.*3707G>A) c.12603G>A (p.Gln4201=) c.12636G>A (p.Gln4212=) c.4792G>A c.12615G>A (p.Gln4205=) c.2668G>A c.12567G>A (p.Gln4189=) n.3810G>A c.12669G>A (p.Gln4223=) c.12666G>A (p.Gln4222=) c.12645G>A (p.Gln4215=) c.12639G>A (p.Gln4213=) c.12633G>A (p.Gln4211=) c.12609G>A (p.Gln4203=) c.12432G>A (p.Gln4144=) c.12576G>A (p.Gln4192=) c.12648G>A (p.Gln4216=) | COSMIC COSMIC |
| 1 | g.237784327G>C | CA345413751 | RYR2 | c.*3707G>C (n.*3707G>C) c.12603G>C (p.Gln4201His) c.12636G>C (p.Gln4212His) c.4792G>C c.12615G>C (p.Gln4205His) c.2668G>C c.12567G>C (p.Gln4189His) n.3810G>C c.12669G>C (p.Gln4223His) c.12666G>C (p.Gln4222His) c.12645G>C (p.Gln4215His) c.12639G>C (p.Gln4213His) c.12633G>C (p.Gln4211His) c.12609G>C (p.Gln4203His) c.12432G>C (p.Gln4144His) c.12576G>C (p.Gln4192His) c.12648G>C (p.Gln4216His) | gnomAD v4 |
| 1 | g.237784327G>T | CA345413752 | RYR2 | c.*3707G>T (n.*3707G>T) c.12603G>T (p.Gln4201His) c.12636G>T (p.Gln4212His) c.4792G>T c.12615G>T (p.Gln4205His) c.2668G>T c.12567G>T (p.Gln4189His) n.3810G>T c.12669G>T (p.Gln4223His) c.12666G>T (p.Gln4222His) c.12645G>T (p.Gln4215His) c.12639G>T (p.Gln4213His) c.12633G>T (p.Gln4211His) c.12609G>T (p.Gln4203His) c.12432G>T (p.Gln4144His) c.12576G>T (p.Gln4192His) c.12648G>T (p.Gln4216His) | |
| 1 | g.237784328A>C | CA345413755 | RYR2 | c.*3708A>C (n.*3708A>C) c.12604A>C (p.Ile4202Leu) c.12637A>C (p.Ile4213Leu) c.4793A>C c.12616A>C (p.Ile4206Leu) c.2669A>C c.12568A>C (p.Ile4190Leu) n.3811A>C c.12670A>C (p.Ile4224Leu) c.12667A>C (p.Ile4223Leu) c.12646A>C (p.Ile4216Leu) c.12640A>C (p.Ile4214Leu) c.12634A>C (p.Ile4212Leu) c.12610A>C (p.Ile4204Leu) c.12433A>C (p.Ile4145Leu) c.12577A>C (p.Ile4193Leu) c.12649A>C (p.Ile4217Leu) | |
| 1 | g.237784328A>G | CA345413754 | RYR2 | c.*3708A>G (n.*3708A>G) c.12604A>G (p.Ile4202Val) c.12637A>G (p.Ile4213Val) c.4793A>G c.12616A>G (p.Ile4206Val) c.2669A>G c.12568A>G (p.Ile4190Val) n.3811A>G c.12670A>G (p.Ile4224Val) c.12667A>G (p.Ile4223Val) c.12646A>G (p.Ile4216Val) c.12640A>G (p.Ile4214Val) c.12634A>G (p.Ile4212Val) c.12610A>G (p.Ile4204Val) c.12433A>G (p.Ile4145Val) c.12577A>G (p.Ile4193Val) c.12649A>G (p.Ile4217Val) | |
| 1 | g.237784328A>T | CA345413753 | RYR2 | c.*3708A>T (n.*3708A>T) c.12604A>T (p.Ile4202Phe) c.12637A>T (p.Ile4213Phe) c.4793A>T c.12616A>T (p.Ile4206Phe) c.2669A>T c.12568A>T (p.Ile4190Phe) n.3811A>T c.12670A>T (p.Ile4224Phe) c.12667A>T (p.Ile4223Phe) c.12646A>T (p.Ile4216Phe) c.12640A>T (p.Ile4214Phe) c.12634A>T (p.Ile4212Phe) c.12610A>T (p.Ile4204Phe) c.12433A>T (p.Ile4145Phe) c.12577A>T (p.Ile4193Phe) c.12649A>T (p.Ile4217Phe) | |
| 1 | g.237784329T>A | CA345413756 | RYR2 | c.*3709T>A (n.*3709T>A) c.12605T>A (p.Ile4202Asn) c.12638T>A (p.Ile4213Asn) c.4794T>A c.12617T>A (p.Ile4206Asn) c.2670T>A c.12569T>A (p.Ile4190Asn) n.3812T>A c.12671T>A (p.Ile4224Asn) c.12668T>A (p.Ile4223Asn) c.12647T>A (p.Ile4216Asn) c.12641T>A (p.Ile4214Asn) c.12635T>A (p.Ile4212Asn) c.12611T>A (p.Ile4204Asn) c.12434T>A (p.Ile4145Asn) c.12578T>A (p.Ile4193Asn) c.12650T>A (p.Ile4217Asn) | gnomAD v4 |
| 1 | g.237784329T>C | CA345413757 | RYR2 | c.*3709T>C (n.*3709T>C) c.12605T>C (p.Ile4202Thr) c.12638T>C (p.Ile4213Thr) c.4794T>C c.12617T>C (p.Ile4206Thr) c.2670T>C c.12569T>C (p.Ile4190Thr) n.3812T>C c.12671T>C (p.Ile4224Thr) c.12668T>C (p.Ile4223Thr) c.12647T>C (p.Ile4216Thr) c.12641T>C (p.Ile4214Thr) c.12635T>C (p.Ile4212Thr) c.12611T>C (p.Ile4204Thr) c.12434T>C (p.Ile4145Thr) c.12578T>C (p.Ile4193Thr) c.12650T>C (p.Ile4217Thr) | |
| 1 | g.237784329T>G | CA345413758 | RYR2 | c.*3709T>G (n.*3709T>G) c.12605T>G (p.Ile4202Ser) c.12638T>G (p.Ile4213Ser) c.4794T>G c.12617T>G (p.Ile4206Ser) c.2670T>G c.12569T>G (p.Ile4190Ser) n.3812T>G c.12671T>G (p.Ile4224Ser) c.12668T>G (p.Ile4223Ser) c.12647T>G (p.Ile4216Ser) c.12641T>G (p.Ile4214Ser) c.12635T>G (p.Ile4212Ser) c.12611T>G (p.Ile4204Ser) c.12434T>G (p.Ile4145Ser) c.12578T>G (p.Ile4193Ser) c.12650T>G (p.Ile4217Ser) | |
| 1 | g.237784329_237784331del | CA2573051535 | RYR2 | c.*3709_*3711del (n.*3709_*3711del) c.12605_12607del (p.Ile4202_Ser4203delinsThr) c.12638_12640del (p.Ile4213_Ser4214delinsThr) c.4794_4796del c.12617_12619del (p.Ile4206_Ser4207delinsThr) c.2670_2672del c.12569_12571del (p.Ile4190_Ser4191delinsThr) n.3812_3814del c.12671_12673del (p.Ile4224_Ser4225delinsThr) c.12668_12670del (p.Ile4223_Ser4224delinsThr) c.12647_12649del (p.Ile4216_Ser4217delinsThr) c.12641_12643del (p.Ile4214_Ser4215delinsThr) c.12635_12637del (p.Ile4212_Ser4213delinsThr) c.12611_12613del (p.Ile4204_Ser4205delinsThr) c.12434_12436del (p.Ile4145_Ser4146delinsThr) c.12578_12580del (p.Ile4193_Ser4194delinsThr) c.12650_12652del (p.Ile4217_Ser4218delinsThr) | ClinVar dbSNP |
| 1 | g.237784330C>A | CA424032062 | RYR2 | c.*3710C>A (n.*3710C>A) c.12606C>A (p.Ile4202=) c.12639C>A (p.Ile4213=) c.4795C>A c.12618C>A (p.Ile4206=) c.2671C>A c.12570C>A (p.Ile4190=) n.3813C>A c.12672C>A (p.Ile4224=) c.12669C>A (p.Ile4223=) c.12648C>A (p.Ile4216=) c.12642C>A (p.Ile4214=) c.12636C>A (p.Ile4212=) c.12612C>A (p.Ile4204=) c.12435C>A (p.Ile4145=) c.12579C>A (p.Ile4193=) c.12651C>A (p.Ile4217=) | |
| 1 | g.237784330C>G | CA345413759 | RYR2 | c.*3710C>G (n.*3710C>G) c.12606C>G (p.Ile4202Met) c.12639C>G (p.Ile4213Met) c.4795C>G c.12618C>G (p.Ile4206Met) c.2671C>G c.12570C>G (p.Ile4190Met) n.3813C>G c.12672C>G (p.Ile4224Met) c.12669C>G (p.Ile4223Met) c.12648C>G (p.Ile4216Met) c.12642C>G (p.Ile4214Met) c.12636C>G (p.Ile4212Met) c.12612C>G (p.Ile4204Met) c.12435C>G (p.Ile4145Met) c.12579C>G (p.Ile4193Met) c.12651C>G (p.Ile4217Met) | |
| 1 | g.237784330C>T | CA424032064 | RYR2 | c.*3710C>T (n.*3710C>T) c.12606C>T (p.Ile4202=) c.12639C>T (p.Ile4213=) c.4795C>T c.12618C>T (p.Ile4206=) c.2671C>T c.12570C>T (p.Ile4190=) n.3813C>T c.12672C>T (p.Ile4224=) c.12669C>T (p.Ile4223=) c.12648C>T (p.Ile4216=) c.12642C>T (p.Ile4214=) c.12636C>T (p.Ile4212=) c.12612C>T (p.Ile4204=) c.12435C>T (p.Ile4145=) c.12579C>T (p.Ile4193=) c.12651C>T (p.Ile4217=) | |
| 1 | g.237784331T>A | CA345413760 | RYR2 | c.*3711T>A (n.*3711T>A) c.12607T>A (p.Ser4203Thr) c.12640T>A (p.Ser4214Thr) c.4796T>A c.12619T>A (p.Ser4207Thr) c.2672T>A c.12571T>A (p.Ser4191Thr) n.3814T>A c.12673T>A (p.Ser4225Thr) c.12670T>A (p.Ser4224Thr) c.12649T>A (p.Ser4217Thr) c.12643T>A (p.Ser4215Thr) c.12637T>A (p.Ser4213Thr) c.12613T>A (p.Ser4205Thr) c.12436T>A (p.Ser4146Thr) c.12580T>A (p.Ser4194Thr) c.12652T>A (p.Ser4218Thr) | |
| 1 | g.237784331T>C | CA345413761 | RYR2 | c.*3711T>C (n.*3711T>C) c.12607T>C (p.Ser4203Pro) c.12640T>C (p.Ser4214Pro) c.4796T>C c.12619T>C (p.Ser4207Pro) c.2672T>C c.12571T>C (p.Ser4191Pro) n.3814T>C c.12673T>C (p.Ser4225Pro) c.12670T>C (p.Ser4224Pro) c.12649T>C (p.Ser4217Pro) c.12643T>C (p.Ser4215Pro) c.12637T>C (p.Ser4213Pro) c.12613T>C (p.Ser4205Pro) c.12436T>C (p.Ser4146Pro) c.12580T>C (p.Ser4194Pro) c.12652T>C (p.Ser4218Pro) | |
| 1 | g.237784331T>G | CA345413762 | RYR2 | c.*3711T>G (n.*3711T>G) c.12607T>G (p.Ser4203Ala) c.12640T>G (p.Ser4214Ala) c.4796T>G c.12619T>G (p.Ser4207Ala) c.2672T>G c.12571T>G (p.Ser4191Ala) n.3814T>G c.12673T>G (p.Ser4225Ala) c.12670T>G (p.Ser4224Ala) c.12649T>G (p.Ser4217Ala) c.12643T>G (p.Ser4215Ala) c.12637T>G (p.Ser4213Ala) c.12613T>G (p.Ser4205Ala) c.12436T>G (p.Ser4146Ala) c.12580T>G (p.Ser4194Ala) c.12652T>G (p.Ser4218Ala) | |
| 1 | g.237784332C>A | CA345413763 | RYR2 | c.*3712C>A (n.*3712C>A) c.12608C>A (p.Ser4203Ter) c.12641C>A (p.Ser4214Ter) c.4797C>A c.12620C>A (p.Ser4207Ter) c.2673C>A c.12572C>A (p.Ser4191Ter) n.3815C>A c.12674C>A (p.Ser4225Ter) c.12671C>A (p.Ser4224Ter) c.12650C>A (p.Ser4217Ter) c.12644C>A (p.Ser4215Ter) c.12638C>A (p.Ser4213Ter) c.12614C>A (p.Ser4205Ter) c.12437C>A (p.Ser4146Ter) c.12581C>A (p.Ser4194Ter) c.12653C>A (p.Ser4218Ter) | ClinVar dbSNP |
| 1 | g.237784332C>G | CA345413764 | RYR2 | c.*3712C>G (n.*3712C>G) c.12608C>G (p.Ser4203Trp) c.12641C>G (p.Ser4214Trp) c.4797C>G c.12620C>G (p.Ser4207Trp) c.2673C>G c.12572C>G (p.Ser4191Trp) n.3815C>G c.12674C>G (p.Ser4225Trp) c.12671C>G (p.Ser4224Trp) c.12650C>G (p.Ser4217Trp) c.12644C>G (p.Ser4215Trp) c.12638C>G (p.Ser4213Trp) c.12614C>G (p.Ser4205Trp) c.12437C>G (p.Ser4146Trp) c.12581C>G (p.Ser4194Trp) c.12653C>G (p.Ser4218Trp) | |
| 1 | g.237784332C>T | CA345413765 | RYR2 | c.*3712C>T (n.*3712C>T) c.12608C>T (p.Ser4203Leu) c.12641C>T (p.Ser4214Leu) c.4797C>T c.12620C>T (p.Ser4207Leu) c.2673C>T c.12572C>T (p.Ser4191Leu) n.3815C>T c.12674C>T (p.Ser4225Leu) c.12671C>T (p.Ser4224Leu) c.12650C>T (p.Ser4217Leu) c.12644C>T (p.Ser4215Leu) c.12638C>T (p.Ser4213Leu) c.12614C>T (p.Ser4205Leu) c.12437C>T (p.Ser4146Leu) c.12581C>T (p.Ser4194Leu) c.12653C>T (p.Ser4218Leu) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 1 | g.237784333G>A | CA066530 | RYR2 | c.*3713G>A (n.*3713G>A) c.12609G>A (p.Ser4203=) c.12642G>A (p.Ser4214=) c.4798G>A c.12621G>A (p.Ser4207=) c.2674G>A c.12573G>A (p.Ser4191=) n.3816G>A c.12675G>A (p.Ser4225=) c.12672G>A (p.Ser4224=) c.12651G>A (p.Ser4217=) c.12645G>A (p.Ser4215=) c.12639G>A (p.Ser4213=) c.12615G>A (p.Ser4205=) c.12438G>A (p.Ser4146=) c.12582G>A (p.Ser4194=) c.12654G>A (p.Ser4218=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237784333G>C | CA424032071 | RYR2 | c.*3713G>C (n.*3713G>C) c.12609G>C (p.Ser4203=) c.12642G>C (p.Ser4214=) c.4798G>C c.12621G>C (p.Ser4207=) c.2674G>C c.12573G>C (p.Ser4191=) n.3816G>C c.12675G>C (p.Ser4225=) c.12672G>C (p.Ser4224=) c.12651G>C (p.Ser4217=) c.12645G>C (p.Ser4215=) c.12639G>C (p.Ser4213=) c.12615G>C (p.Ser4205=) c.12438G>C (p.Ser4146=) c.12582G>C (p.Ser4194=) c.12654G>C (p.Ser4218=) | |
| 1 | g.237784333G= | CA2487482476 | RYR2 | c.*3713G= (n.*3713G=) c.12609G= (p.Ser4203=) c.12642G= (p.Ser4214=) c.4798G= c.12621G= (p.Ser4207=) c.2674G= c.12573G= (p.Ser4191=) n.3816G= c.12675G= (p.Ser4225=) c.12672G= (p.Ser4224=) c.12651G= (p.Ser4217=) c.12645G= (p.Ser4215=) c.12639G= (p.Ser4213=) c.12615G= (p.Ser4205=) c.12438G= (p.Ser4146=) c.12582G= (p.Ser4194=) c.12654G= (p.Ser4218=) | |
| 1 | g.237784333G>T | CA424032074 | RYR2 | c.*3713G>T (n.*3713G>T) c.12609G>T (p.Ser4203=) c.12642G>T (p.Ser4214=) c.4798G>T c.12621G>T (p.Ser4207=) c.2674G>T c.12573G>T (p.Ser4191=) n.3816G>T c.12675G>T (p.Ser4225=) c.12672G>T (p.Ser4224=) c.12651G>T (p.Ser4217=) c.12645G>T (p.Ser4215=) c.12639G>T (p.Ser4213=) c.12615G>T (p.Ser4205=) c.12438G>T (p.Ser4146=) c.12582G>T (p.Ser4194=) c.12654G>T (p.Ser4218=) | |
| 1 | g.237784334G>A | CA345413766 | RYR2 | c.*3714G>A (n.*3714G>A) c.12610G>A (p.Glu4204Lys) c.12643G>A (p.Glu4215Lys) c.4799G>A c.12622G>A (p.Glu4208Lys) c.2675G>A c.12574G>A (p.Glu4192Lys) n.3817G>A c.12676G>A (p.Glu4226Lys) c.12673G>A (p.Glu4225Lys) c.12652G>A (p.Glu4218Lys) c.12646G>A (p.Glu4216Lys) c.12640G>A (p.Glu4214Lys) c.12616G>A (p.Glu4206Lys) c.12439G>A (p.Glu4147Lys) c.12583G>A (p.Glu4195Lys) c.12655G>A (p.Glu4219Lys) | COSMIC COSMIC |
| 1 | g.237784334G>C | CA345413767 | RYR2 | c.*3714G>C (n.*3714G>C) c.12610G>C (p.Glu4204Gln) c.12643G>C (p.Glu4215Gln) c.4799G>C c.12622G>C (p.Glu4208Gln) c.2675G>C c.12574G>C (p.Glu4192Gln) n.3817G>C c.12676G>C (p.Glu4226Gln) c.12673G>C (p.Glu4225Gln) c.12652G>C (p.Glu4218Gln) c.12646G>C (p.Glu4216Gln) c.12640G>C (p.Glu4214Gln) c.12616G>C (p.Glu4206Gln) c.12439G>C (p.Glu4147Gln) c.12583G>C (p.Glu4195Gln) c.12655G>C (p.Glu4219Gln) | |
| 1 | g.237784334G>T | CA345413768 | RYR2 | c.*3714G>T (n.*3714G>T) c.12610G>T (p.Glu4204Ter) c.12643G>T (p.Glu4215Ter) c.4799G>T c.12622G>T (p.Glu4208Ter) c.2675G>T c.12574G>T (p.Glu4192Ter) n.3817G>T c.12676G>T (p.Glu4226Ter) c.12673G>T (p.Glu4225Ter) c.12652G>T (p.Glu4218Ter) c.12646G>T (p.Glu4216Ter) c.12640G>T (p.Glu4214Ter) c.12616G>T (p.Glu4206Ter) c.12439G>T (p.Glu4147Ter) c.12583G>T (p.Glu4195Ter) c.12655G>T (p.Glu4219Ter) | COSMIC COSMIC |
| 1 | g.237784335A= | CA2487482477 | RYR2 | c.*3715A= (n.*3715A=) c.12611A= (p.Glu4204=) c.12644A= (p.Glu4215=) c.4800A= c.12623A= (p.Glu4208=) c.2676A= c.12575A= (p.Glu4192=) n.3818A= c.12677A= (p.Glu4226=) c.12674A= (p.Glu4225=) c.12653A= (p.Glu4218=) c.12647A= (p.Glu4216=) c.12641A= (p.Glu4214=) c.12617A= (p.Glu4206=) c.12440A= (p.Glu4147=) c.12584A= (p.Glu4195=) c.12656A= (p.Glu4219=) | |
| 1 | g.237784335A>C | CA345413770 | RYR2 | c.*3715A>C (n.*3715A>C) c.12611A>C (p.Glu4204Ala) c.12644A>C (p.Glu4215Ala) c.4800A>C c.12623A>C (p.Glu4208Ala) c.2676A>C c.12575A>C (p.Glu4192Ala) n.3818A>C c.12677A>C (p.Glu4226Ala) c.12674A>C (p.Glu4225Ala) c.12653A>C (p.Glu4218Ala) c.12647A>C (p.Glu4216Ala) c.12641A>C (p.Glu4214Ala) c.12617A>C (p.Glu4206Ala) c.12440A>C (p.Glu4147Ala) c.12584A>C (p.Glu4195Ala) c.12656A>C (p.Glu4219Ala) | |
| 1 | g.237784335A>G | CA345413771 | RYR2 | c.*3715A>G (n.*3715A>G) c.12611A>G (p.Glu4204Gly) c.12644A>G (p.Glu4215Gly) c.4800A>G c.12623A>G (p.Glu4208Gly) c.2676A>G c.12575A>G (p.Glu4192Gly) n.3818A>G c.12677A>G (p.Glu4226Gly) c.12674A>G (p.Glu4225Gly) c.12653A>G (p.Glu4218Gly) c.12647A>G (p.Glu4216Gly) c.12641A>G (p.Glu4214Gly) c.12617A>G (p.Glu4206Gly) c.12440A>G (p.Glu4147Gly) c.12584A>G (p.Glu4195Gly) c.12656A>G (p.Glu4219Gly) | ClinVar dbSNP |
| 1 | g.237784335A>T | CA345413769 | RYR2 | c.*3715A>T (n.*3715A>T) c.12611A>T (p.Glu4204Val) c.12644A>T (p.Glu4215Val) c.4800A>T c.12623A>T (p.Glu4208Val) c.2676A>T c.12575A>T (p.Glu4192Val) n.3818A>T c.12677A>T (p.Glu4226Val) c.12674A>T (p.Glu4225Val) c.12653A>T (p.Glu4218Val) c.12647A>T (p.Glu4216Val) c.12641A>T (p.Glu4214Val) c.12617A>T (p.Glu4206Val) c.12440A>T (p.Glu4147Val) c.12584A>T (p.Glu4195Val) c.12656A>T (p.Glu4219Val) | |
| 1 | g.237784336G>A | CA424032081 | RYR2 | c.*3716G>A (n.*3716G>A) c.12612G>A (p.Glu4204=) c.12645G>A (p.Glu4215=) c.4801G>A c.12624G>A (p.Glu4208=) c.2677G>A c.12576G>A (p.Glu4192=) n.3819G>A c.12678G>A (p.Glu4226=) c.12675G>A (p.Glu4225=) c.12654G>A (p.Glu4218=) c.12648G>A (p.Glu4216=) c.12642G>A (p.Glu4214=) c.12618G>A (p.Glu4206=) c.12441G>A (p.Glu4147=) c.12585G>A (p.Glu4195=) c.12657G>A (p.Glu4219=) | ClinVar dbSNP |
| 1 | g.237784336G>C | CA345413773 | RYR2 | c.*3716G>C (n.*3716G>C) c.12612G>C (p.Glu4204Asp) c.12645G>C (p.Glu4215Asp) c.4801G>C c.12624G>C (p.Glu4208Asp) c.2677G>C c.12576G>C (p.Glu4192Asp) n.3819G>C c.12678G>C (p.Glu4226Asp) c.12675G>C (p.Glu4225Asp) c.12654G>C (p.Glu4218Asp) c.12648G>C (p.Glu4216Asp) c.12642G>C (p.Glu4214Asp) c.12618G>C (p.Glu4206Asp) c.12441G>C (p.Glu4147Asp) c.12585G>C (p.Glu4195Asp) c.12657G>C (p.Glu4219Asp) | |
| 1 | g.237784336G= | CA2487482478 | RYR2 | c.*3716G= (n.*3716G=) c.12612G= (p.Glu4204=) c.12645G= (p.Glu4215=) c.4801G= c.12624G= (p.Glu4208=) c.2677G= c.12576G= (p.Glu4192=) n.3819G= c.12678G= (p.Glu4226=) c.12675G= (p.Glu4225=) c.12654G= (p.Glu4218=) c.12648G= (p.Glu4216=) c.12642G= (p.Glu4214=) c.12618G= (p.Glu4206=) c.12441G= (p.Glu4147=) c.12585G= (p.Glu4195=) c.12657G= (p.Glu4219=) | |
| 1 | g.237784336G>T | CA345413772 | RYR2 | c.*3716G>T (n.*3716G>T) c.12612G>T (p.Glu4204Asp) c.12645G>T (p.Glu4215Asp) c.4801G>T c.12624G>T (p.Glu4208Asp) c.2677G>T c.12576G>T (p.Glu4192Asp) n.3819G>T c.12678G>T (p.Glu4226Asp) c.12675G>T (p.Glu4225Asp) c.12654G>T (p.Glu4218Asp) c.12648G>T (p.Glu4216Asp) c.12642G>T (p.Glu4214Asp) c.12618G>T (p.Glu4206Asp) c.12441G>T (p.Glu4147Asp) c.12585G>T (p.Glu4195Asp) c.12657G>T (p.Glu4219Asp) | |
| 1 | g.237784337T>A | CA345413776 | RYR2 | c.*3717T>A (n.*3717T>A) c.12613T>A (p.Ser4205Thr) c.12646T>A (p.Ser4216Thr) c.4802T>A c.12625T>A (p.Ser4209Thr) c.2678T>A c.12577T>A (p.Ser4193Thr) n.3820T>A c.12679T>A (p.Ser4227Thr) c.12676T>A (p.Ser4226Thr) c.12655T>A (p.Ser4219Thr) c.12649T>A (p.Ser4217Thr) c.12643T>A (p.Ser4215Thr) c.12619T>A (p.Ser4207Thr) c.12442T>A (p.Ser4148Thr) c.12586T>A (p.Ser4196Thr) c.12658T>A (p.Ser4220Thr) | |
| 1 | g.237784337T>C | CA345413774 | RYR2 | c.*3717T>C (n.*3717T>C) c.12613T>C (p.Ser4205Pro) c.12646T>C (p.Ser4216Pro) c.4802T>C c.12625T>C (p.Ser4209Pro) c.2678T>C c.12577T>C (p.Ser4193Pro) n.3820T>C c.12679T>C (p.Ser4227Pro) c.12676T>C (p.Ser4226Pro) c.12655T>C (p.Ser4219Pro) c.12649T>C (p.Ser4217Pro) c.12643T>C (p.Ser4215Pro) c.12619T>C (p.Ser4207Pro) c.12442T>C (p.Ser4148Pro) c.12586T>C (p.Ser4196Pro) c.12658T>C (p.Ser4220Pro) | |
| 1 | g.237784337T>G | CA345413775 | RYR2 | c.*3717T>G (n.*3717T>G) c.12613T>G (p.Ser4205Ala) c.12646T>G (p.Ser4216Ala) c.4802T>G c.12625T>G (p.Ser4209Ala) c.2678T>G c.12577T>G (p.Ser4193Ala) n.3820T>G c.12679T>G (p.Ser4227Ala) c.12676T>G (p.Ser4226Ala) c.12655T>G (p.Ser4219Ala) c.12649T>G (p.Ser4217Ala) c.12643T>G (p.Ser4215Ala) c.12619T>G (p.Ser4207Ala) c.12442T>G (p.Ser4148Ala) c.12586T>G (p.Ser4196Ala) c.12658T>G (p.Ser4220Ala) | gnomAD v4 |
| 1 | g.237784338C>A | CA345413777 | RYR2 | c.*3718C>A (n.*3718C>A) c.12614C>A (p.Ser4205Ter) c.12647C>A (p.Ser4216Ter) c.4803C>A c.12626C>A (p.Ser4209Ter) c.2679C>A c.12578C>A (p.Ser4193Ter) n.3821C>A c.12680C>A (p.Ser4227Ter) c.12677C>A (p.Ser4226Ter) c.12656C>A (p.Ser4219Ter) c.12650C>A (p.Ser4217Ter) c.12644C>A (p.Ser4215Ter) c.12620C>A (p.Ser4207Ter) c.12443C>A (p.Ser4148Ter) c.12587C>A (p.Ser4196Ter) c.12659C>A (p.Ser4220Ter) | |
| 1 | g.237784338C>G | CA345413778 | RYR2 | c.*3718C>G (n.*3718C>G) c.12614C>G (p.Ser4205Trp) c.12647C>G (p.Ser4216Trp) c.4803C>G c.12626C>G (p.Ser4209Trp) c.2679C>G c.12578C>G (p.Ser4193Trp) n.3821C>G c.12680C>G (p.Ser4227Trp) c.12677C>G (p.Ser4226Trp) c.12656C>G (p.Ser4219Trp) c.12650C>G (p.Ser4217Trp) c.12644C>G (p.Ser4215Trp) c.12620C>G (p.Ser4207Trp) c.12443C>G (p.Ser4148Trp) c.12587C>G (p.Ser4196Trp) c.12659C>G (p.Ser4220Trp) | |
| 1 | g.237784338C>T | CA345413779 | RYR2 | c.*3718C>T (n.*3718C>T) c.12614C>T (p.Ser4205Leu) c.12647C>T (p.Ser4216Leu) c.4803C>T c.12626C>T (p.Ser4209Leu) c.2679C>T c.12578C>T (p.Ser4193Leu) n.3821C>T c.12680C>T (p.Ser4227Leu) c.12677C>T (p.Ser4226Leu) c.12656C>T (p.Ser4219Leu) c.12650C>T (p.Ser4217Leu) c.12644C>T (p.Ser4215Leu) c.12620C>T (p.Ser4207Leu) c.12443C>T (p.Ser4148Leu) c.12587C>T (p.Ser4196Leu) c.12659C>T (p.Ser4220Leu) | ClinVar gnomAD v4 |
| 1 | g.237784339G>A | CA085204 | RYR2 | c.*3719G>A (n.*3719G>A) c.12615G>A (p.Ser4205=) c.12648G>A (p.Ser4216=) c.4804G>A c.12627G>A (p.Ser4209=) c.2680G>A c.12579G>A (p.Ser4193=) n.3822G>A c.12681G>A (p.Ser4227=) c.12678G>A (p.Ser4226=) c.12657G>A (p.Ser4219=) c.12651G>A (p.Ser4217=) c.12645G>A (p.Ser4215=) c.12621G>A (p.Ser4207=) c.12444G>A (p.Ser4148=) c.12588G>A (p.Ser4196=) c.12660G>A (p.Ser4220=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237784339G>C | CA085206 | RYR2 | c.*3719G>C (n.*3719G>C) c.12615G>C (p.Ser4205=) c.12648G>C (p.Ser4216=) c.4804G>C c.12627G>C (p.Ser4209=) c.2680G>C c.12579G>C (p.Ser4193=) n.3822G>C c.12681G>C (p.Ser4227=) c.12678G>C (p.Ser4226=) c.12657G>C (p.Ser4219=) c.12651G>C (p.Ser4217=) c.12645G>C (p.Ser4215=) c.12621G>C (p.Ser4207=) c.12444G>C (p.Ser4148=) c.12588G>C (p.Ser4196=) c.12660G>C (p.Ser4220=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.237784339G= | CA1139992146 | RYR2 | c.*3719G= (n.*3719G=) c.12615G= (p.Ser4205=) c.12648G= (p.Ser4216=) c.4804G= c.12627G= (p.Ser4209=) c.2680G= c.12579G= (p.Ser4193=) n.3822G= c.12681G= (p.Ser4227=) c.12678G= (p.Ser4226=) c.12657G= (p.Ser4219=) c.12651G= (p.Ser4217=) c.12645G= (p.Ser4215=) c.12621G= (p.Ser4207=) c.12444G= (p.Ser4148=) c.12588G= (p.Ser4196=) c.12660G= (p.Ser4220=) | |
| 1 | g.237784339G>T | CA424032089 | RYR2 | c.*3719G>T (n.*3719G>T) c.12615G>T (p.Ser4205=) c.12648G>T (p.Ser4216=) c.4804G>T c.12627G>T (p.Ser4209=) c.2680G>T c.12579G>T (p.Ser4193=) n.3822G>T c.12681G>T (p.Ser4227=) c.12678G>T (p.Ser4226=) c.12657G>T (p.Ser4219=) c.12651G>T (p.Ser4217=) c.12645G>T (p.Ser4215=) c.12621G>T (p.Ser4207=) c.12444G>T (p.Ser4148=) c.12588G>T (p.Ser4196=) c.12660G>T (p.Ser4220=) |