| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.237808916G>A | CA008227 | RYR2 | c.*5406G>A (n.*5406G>A) c.14296G>A (p.Gly4766Ser) c.14335G>A (p.Gly4779Ser) c.6485G>A c.14314G>A (p.Gly4772Ser) c.14263G>A (p.Gly4755Ser) n.825G>A c.14368G>A (p.Gly4790Ser) c.14365G>A (p.Gly4789Ser) c.14344G>A (p.Gly4782Ser) c.14338G>A (p.Gly4780Ser) c.14332G>A (p.Gly4778Ser) c.14308G>A (p.Gly4770Ser) c.14131G>A (p.Gly4711Ser) c.14275G>A (p.Gly4759Ser) c.14347G>A (p.Gly4783Ser) | ClinVar dbSNP |
| 1 | g.237808916G>C | CA345424039 | RYR2 | c.*5406G>C (n.*5406G>C) c.14296G>C (p.Gly4766Arg) c.14335G>C (p.Gly4779Arg) c.6485G>C c.14314G>C (p.Gly4772Arg) c.14263G>C (p.Gly4755Arg) n.825G>C c.14368G>C (p.Gly4790Arg) c.14365G>C (p.Gly4789Arg) c.14344G>C (p.Gly4782Arg) c.14338G>C (p.Gly4780Arg) c.14332G>C (p.Gly4778Arg) c.14308G>C (p.Gly4770Arg) c.14131G>C (p.Gly4711Arg) c.14275G>C (p.Gly4759Arg) c.14347G>C (p.Gly4783Arg) | |
| 1 | g.237808916G= | CA1143355842 | RYR2 | c.*5406G= (n.*5406G=) c.14296G= (p.Gly4766=) c.14335G= (p.Gly4779=) c.6485G= c.14314G= (p.Gly4772=) c.14263G= (p.Gly4755=) n.825G= c.14368G= (p.Gly4790=) c.14365G= (p.Gly4789=) c.14344G= (p.Gly4782=) c.14338G= (p.Gly4780=) c.14332G= (p.Gly4778=) c.14308G= (p.Gly4770=) c.14131G= (p.Gly4711=) c.14275G= (p.Gly4759=) c.14347G= (p.Gly4783=) | |
| 1 | g.237808916G>T | CA345424040 | RYR2 | c.*5406G>T (n.*5406G>T) c.14296G>T (p.Gly4766Cys) c.14335G>T (p.Gly4779Cys) c.6485G>T c.14314G>T (p.Gly4772Cys) c.14263G>T (p.Gly4755Cys) n.825G>T c.14368G>T (p.Gly4790Cys) c.14365G>T (p.Gly4789Cys) c.14344G>T (p.Gly4782Cys) c.14338G>T (p.Gly4780Cys) c.14332G>T (p.Gly4778Cys) c.14308G>T (p.Gly4770Cys) c.14131G>T (p.Gly4711Cys) c.14275G>T (p.Gly4759Cys) c.14347G>T (p.Gly4783Cys) | |
| 1 | g.237808917G>A | CA345424044 | RYR2 | c.*5407G>A (n.*5407G>A) c.14297G>A (p.Gly4766Asp) c.14336G>A (p.Gly4779Asp) c.6486G>A c.14315G>A (p.Gly4772Asp) c.14264G>A (p.Gly4755Asp) n.826G>A c.14369G>A (p.Gly4790Asp) c.14366G>A (p.Gly4789Asp) c.14345G>A (p.Gly4782Asp) c.14339G>A (p.Gly4780Asp) c.14333G>A (p.Gly4778Asp) c.14309G>A (p.Gly4770Asp) c.14132G>A (p.Gly4711Asp) c.14276G>A (p.Gly4759Asp) c.14348G>A (p.Gly4783Asp) | |
| 1 | g.237808917G>C | CA345424042 | RYR2 | c.*5407G>C (n.*5407G>C) c.14297G>C (p.Gly4766Ala) c.14336G>C (p.Gly4779Ala) c.6486G>C c.14315G>C (p.Gly4772Ala) c.14264G>C (p.Gly4755Ala) n.826G>C c.14369G>C (p.Gly4790Ala) c.14366G>C (p.Gly4789Ala) c.14345G>C (p.Gly4782Ala) c.14339G>C (p.Gly4780Ala) c.14333G>C (p.Gly4778Ala) c.14309G>C (p.Gly4770Ala) c.14132G>C (p.Gly4711Ala) c.14276G>C (p.Gly4759Ala) c.14348G>C (p.Gly4783Ala) | |
| 1 | g.237808917G>T | CA345424041 | RYR2 | c.*5407G>T (n.*5407G>T) c.14297G>T (p.Gly4766Val) c.14336G>T (p.Gly4779Val) c.6486G>T c.14315G>T (p.Gly4772Val) c.14264G>T (p.Gly4755Val) n.826G>T c.14369G>T (p.Gly4790Val) c.14366G>T (p.Gly4789Val) c.14345G>T (p.Gly4782Val) c.14339G>T (p.Gly4780Val) c.14333G>T (p.Gly4778Val) c.14309G>T (p.Gly4770Val) c.14132G>T (p.Gly4711Val) c.14276G>T (p.Gly4759Val) c.14348G>T (p.Gly4783Val) | |
| 1 | g.237808918C>A | CA424051697 | RYR2 | c.*5408C>A (n.*5408C>A) c.14298C>A (p.Gly4766=) c.14337C>A (p.Gly4779=) c.6487C>A c.14316C>A (p.Gly4772=) c.14265C>A (p.Gly4755=) n.827C>A c.14370C>A (p.Gly4790=) c.14367C>A (p.Gly4789=) c.14346C>A (p.Gly4782=) c.14340C>A (p.Gly4780=) c.14334C>A (p.Gly4778=) c.14310C>A (p.Gly4770=) c.14133C>A (p.Gly4711=) c.14277C>A (p.Gly4759=) c.14349C>A (p.Gly4783=) | |
| 1 | g.237808918C>G | CA424051698 | RYR2 | c.*5408C>G (n.*5408C>G) c.14298C>G (p.Gly4766=) c.14337C>G (p.Gly4779=) c.6487C>G c.14316C>G (p.Gly4772=) c.14265C>G (p.Gly4755=) n.827C>G c.14370C>G (p.Gly4790=) c.14367C>G (p.Gly4789=) c.14346C>G (p.Gly4782=) c.14340C>G (p.Gly4780=) c.14334C>G (p.Gly4778=) c.14310C>G (p.Gly4770=) c.14133C>G (p.Gly4711=) c.14277C>G (p.Gly4759=) c.14349C>G (p.Gly4783=) | |
| 1 | g.237808918C>T | CA424051696 | RYR2 | c.*5408C>T (n.*5408C>T) c.14298C>T (p.Gly4766=) c.14337C>T (p.Gly4779=) c.6487C>T c.14316C>T (p.Gly4772=) c.14265C>T (p.Gly4755=) n.827C>T c.14370C>T (p.Gly4790=) c.14367C>T (p.Gly4789=) c.14346C>T (p.Gly4782=) c.14340C>T (p.Gly4780=) c.14334C>T (p.Gly4778=) c.14310C>T (p.Gly4770=) c.14133C>T (p.Gly4711=) c.14277C>T (p.Gly4759=) c.14349C>T (p.Gly4783=) | ClinVar dbSNP |
| 1 | g.237808919T>A | CA345424047 | RYR2 | c.*5409T>A (n.*5409T>A) c.14299T>A (p.Leu4767Ile) c.14338T>A (p.Leu4780Ile) c.6488T>A c.14317T>A (p.Leu4773Ile) c.14266T>A (p.Leu4756Ile) n.828T>A c.14371T>A (p.Leu4791Ile) c.14368T>A (p.Leu4790Ile) c.14347T>A (p.Leu4783Ile) c.14341T>A (p.Leu4781Ile) c.14335T>A (p.Leu4779Ile) c.14311T>A (p.Leu4771Ile) c.14134T>A (p.Leu4712Ile) c.14278T>A (p.Leu4760Ile) c.14350T>A (p.Leu4784Ile) | |
| 1 | g.237808919T>C | CA068237 | RYR2 | c.*5409T>C (n.*5409T>C) c.14299T>C (p.Leu4767=) c.14338T>C (p.Leu4780=) c.6488T>C c.14317T>C (p.Leu4773=) c.14266T>C (p.Leu4756=) n.828T>C c.14371T>C (p.Leu4791=) c.14368T>C (p.Leu4790=) c.14347T>C (p.Leu4783=) c.14341T>C (p.Leu4781=) c.14335T>C (p.Leu4779=) c.14311T>C (p.Leu4771=) c.14134T>C (p.Leu4712=) c.14278T>C (p.Leu4760=) c.14350T>C (p.Leu4784=) | COSMIC COSMIC |
| 1 | g.237808919T>G | CA345424053 | RYR2 | c.*5409T>G (n.*5409T>G) c.14299T>G (p.Leu4767Val) c.14338T>G (p.Leu4780Val) c.6488T>G c.14317T>G (p.Leu4773Val) c.14266T>G (p.Leu4756Val) n.828T>G c.14371T>G (p.Leu4791Val) c.14368T>G (p.Leu4790Val) c.14347T>G (p.Leu4783Val) c.14341T>G (p.Leu4781Val) c.14335T>G (p.Leu4779Val) c.14311T>G (p.Leu4771Val) c.14134T>G (p.Leu4712Val) c.14278T>G (p.Leu4760Val) c.14350T>G (p.Leu4784Val) | |
| 1 | g.237808920T>A | CA345424055 | RYR2 | c.*5410T>A (n.*5410T>A) c.14300T>A (p.Leu4767Ter) c.14339T>A (p.Leu4780Ter) c.6489T>A c.14318T>A (p.Leu4773Ter) c.14267T>A (p.Leu4756Ter) n.829T>A c.14372T>A (p.Leu4791Ter) c.14369T>A (p.Leu4790Ter) c.14348T>A (p.Leu4783Ter) c.14342T>A (p.Leu4781Ter) c.14336T>A (p.Leu4779Ter) c.14312T>A (p.Leu4771Ter) c.14135T>A (p.Leu4712Ter) c.14279T>A (p.Leu4760Ter) c.14351T>A (p.Leu4784Ter) | |
| 1 | g.237808920T>C | CA345424057 | RYR2 | c.*5410T>C (n.*5410T>C) c.14300T>C (p.Leu4767Ser) c.14339T>C (p.Leu4780Ser) c.6489T>C c.14318T>C (p.Leu4773Ser) c.14267T>C (p.Leu4756Ser) n.829T>C c.14372T>C (p.Leu4791Ser) c.14369T>C (p.Leu4790Ser) c.14348T>C (p.Leu4783Ser) c.14342T>C (p.Leu4781Ser) c.14336T>C (p.Leu4779Ser) c.14312T>C (p.Leu4771Ser) c.14135T>C (p.Leu4712Ser) c.14279T>C (p.Leu4760Ser) c.14351T>C (p.Leu4784Ser) | |
| 1 | g.237808920T>G | CA345424058 | RYR2 | c.*5410T>G (n.*5410T>G) c.14300T>G (p.Leu4767Ter) c.14339T>G (p.Leu4780Ter) c.6489T>G c.14318T>G (p.Leu4773Ter) c.14267T>G (p.Leu4756Ter) n.829T>G c.14372T>G (p.Leu4791Ter) c.14369T>G (p.Leu4790Ter) c.14348T>G (p.Leu4783Ter) c.14342T>G (p.Leu4781Ter) c.14336T>G (p.Leu4779Ter) c.14312T>G (p.Leu4771Ter) c.14135T>G (p.Leu4712Ter) c.14279T>G (p.Leu4760Ter) c.14351T>G (p.Leu4784Ter) | |
| 1 | g.237808921A>C | CA345424059 | RYR2 | c.*5411A>C (n.*5411A>C) c.14301A>C (p.Leu4767Phe) c.14340A>C (p.Leu4780Phe) c.6490A>C c.14319A>C (p.Leu4773Phe) c.14268A>C (p.Leu4756Phe) n.830A>C c.14373A>C (p.Leu4791Phe) c.14370A>C (p.Leu4790Phe) c.14349A>C (p.Leu4783Phe) c.14343A>C (p.Leu4781Phe) c.14337A>C (p.Leu4779Phe) c.14313A>C (p.Leu4771Phe) c.14136A>C (p.Leu4712Phe) c.14280A>C (p.Leu4760Phe) c.14352A>C (p.Leu4784Phe) | |
| 1 | g.237808921A>G | CA424051699 | RYR2 | c.*5411A>G (n.*5411A>G) c.14301A>G (p.Leu4767=) c.14340A>G (p.Leu4780=) c.6490A>G c.14319A>G (p.Leu4773=) c.14268A>G (p.Leu4756=) n.830A>G c.14373A>G (p.Leu4791=) c.14370A>G (p.Leu4790=) c.14349A>G (p.Leu4783=) c.14343A>G (p.Leu4781=) c.14337A>G (p.Leu4779=) c.14313A>G (p.Leu4771=) c.14136A>G (p.Leu4712=) c.14280A>G (p.Leu4760=) c.14352A>G (p.Leu4784=) | ClinVar |
| 1 | g.237808921A>T | CA345424060 | RYR2 | c.*5411A>T (n.*5411A>T) c.14301A>T (p.Leu4767Phe) c.14340A>T (p.Leu4780Phe) c.6490A>T c.14319A>T (p.Leu4773Phe) c.14268A>T (p.Leu4756Phe) n.830A>T c.14373A>T (p.Leu4791Phe) c.14370A>T (p.Leu4790Phe) c.14349A>T (p.Leu4783Phe) c.14343A>T (p.Leu4781Phe) c.14337A>T (p.Leu4779Phe) c.14313A>T (p.Leu4771Phe) c.14136A>T (p.Leu4712Phe) c.14280A>T (p.Leu4760Phe) c.14352A>T (p.Leu4784Phe) | |
| 1 | g.237808922T>A | CA345424061 | RYR2 | c.*5412T>A (n.*5412T>A) c.14302T>A (p.Leu4768Ile) c.14341T>A (p.Leu4781Ile) c.6491T>A c.14320T>A (p.Leu4774Ile) c.14269T>A (p.Leu4757Ile) n.831T>A c.14374T>A (p.Leu4792Ile) c.14371T>A (p.Leu4791Ile) c.14350T>A (p.Leu4784Ile) c.14344T>A (p.Leu4782Ile) c.14338T>A (p.Leu4780Ile) c.14314T>A (p.Leu4772Ile) c.14137T>A (p.Leu4713Ile) c.14281T>A (p.Leu4761Ile) c.14353T>A (p.Leu4785Ile) | |
| 1 | g.237808922T>C | CA424051700 | RYR2 | c.*5412T>C (n.*5412T>C) c.14302T>C (p.Leu4768=) c.14341T>C (p.Leu4781=) c.6491T>C c.14320T>C (p.Leu4774=) c.14269T>C (p.Leu4757=) n.831T>C c.14374T>C (p.Leu4792=) c.14371T>C (p.Leu4791=) c.14350T>C (p.Leu4784=) c.14344T>C (p.Leu4782=) c.14338T>C (p.Leu4780=) c.14314T>C (p.Leu4772=) c.14137T>C (p.Leu4713=) c.14281T>C (p.Leu4761=) c.14353T>C (p.Leu4785=) | |
| 1 | g.237808922T>G | CA345424062 | RYR2 | c.*5412T>G (n.*5412T>G) c.14302T>G (p.Leu4768Val) c.14341T>G (p.Leu4781Val) c.6491T>G c.14320T>G (p.Leu4774Val) c.14269T>G (p.Leu4757Val) n.831T>G c.14374T>G (p.Leu4792Val) c.14371T>G (p.Leu4791Val) c.14350T>G (p.Leu4784Val) c.14344T>G (p.Leu4782Val) c.14338T>G (p.Leu4780Val) c.14314T>G (p.Leu4772Val) c.14137T>G (p.Leu4713Val) c.14281T>G (p.Leu4761Val) c.14353T>G (p.Leu4785Val) | |
| 1 | g.237808923T>A | CA345424063 | RYR2 | c.*5413T>A (n.*5413T>A) c.14303T>A (p.Leu4768Ter) c.14342T>A (p.Leu4781Ter) c.6492T>A c.14321T>A (p.Leu4774Ter) c.14270T>A (p.Leu4757Ter) n.832T>A c.14375T>A (p.Leu4792Ter) c.14372T>A (p.Leu4791Ter) c.14351T>A (p.Leu4784Ter) c.14345T>A (p.Leu4782Ter) c.14339T>A (p.Leu4780Ter) c.14315T>A (p.Leu4772Ter) c.14138T>A (p.Leu4713Ter) c.14282T>A (p.Leu4761Ter) c.14354T>A (p.Leu4785Ter) | |
| 1 | g.237808923T>C | CA345424066 | RYR2 | c.*5413T>C (n.*5413T>C) c.14303T>C (p.Leu4768Ser) c.14342T>C (p.Leu4781Ser) c.6492T>C c.14321T>C (p.Leu4774Ser) c.14270T>C (p.Leu4757Ser) n.832T>C c.14375T>C (p.Leu4792Ser) c.14372T>C (p.Leu4791Ser) c.14351T>C (p.Leu4784Ser) c.14345T>C (p.Leu4782Ser) c.14339T>C (p.Leu4780Ser) c.14315T>C (p.Leu4772Ser) c.14138T>C (p.Leu4713Ser) c.14282T>C (p.Leu4761Ser) c.14354T>C (p.Leu4785Ser) | |
| 1 | g.237808923T>G | CA345424069 | RYR2 | c.*5413T>G (n.*5413T>G) c.14303T>G (p.Leu4768Ter) c.14342T>G (p.Leu4781Ter) c.6492T>G c.14321T>G (p.Leu4774Ter) c.14270T>G (p.Leu4757Ter) n.832T>G c.14375T>G (p.Leu4792Ter) c.14372T>G (p.Leu4791Ter) c.14351T>G (p.Leu4784Ter) c.14345T>G (p.Leu4782Ter) c.14339T>G (p.Leu4780Ter) c.14315T>G (p.Leu4772Ter) c.14138T>G (p.Leu4713Ter) c.14282T>G (p.Leu4761Ter) c.14354T>G (p.Leu4785Ter) | |
| 1 | g.237808924A= | CA2487493377 | RYR2 | c.*5414A= (n.*5414A=) c.14304A= (p.Leu4768=) c.14343A= (p.Leu4781=) c.6493A= c.14322A= (p.Leu4774=) c.14271A= (p.Leu4757=) n.833A= c.14376A= (p.Leu4792=) c.14373A= (p.Leu4791=) c.14352A= (p.Leu4784=) c.14346A= (p.Leu4782=) c.14340A= (p.Leu4780=) c.14316A= (p.Leu4772=) c.14139A= (p.Leu4713=) c.14283A= (p.Leu4761=) c.14355A= (p.Leu4785=) | |
| 1 | g.237808924A>C | CA345424071 | RYR2 | c.*5414A>C (n.*5414A>C) c.14304A>C (p.Leu4768Phe) c.14343A>C (p.Leu4781Phe) c.6493A>C c.14322A>C (p.Leu4774Phe) c.14271A>C (p.Leu4757Phe) n.833A>C c.14376A>C (p.Leu4792Phe) c.14373A>C (p.Leu4791Phe) c.14352A>C (p.Leu4784Phe) c.14346A>C (p.Leu4782Phe) c.14340A>C (p.Leu4780Phe) c.14316A>C (p.Leu4772Phe) c.14139A>C (p.Leu4713Phe) c.14283A>C (p.Leu4761Phe) c.14355A>C (p.Leu4785Phe) | |
| 1 | g.237808924A>G | CA424051701 | RYR2 | c.*5414A>G (n.*5414A>G) c.14304A>G (p.Leu4768=) c.14343A>G (p.Leu4781=) c.6493A>G c.14322A>G (p.Leu4774=) c.14271A>G (p.Leu4757=) n.833A>G c.14376A>G (p.Leu4792=) c.14373A>G (p.Leu4791=) c.14352A>G (p.Leu4784=) c.14346A>G (p.Leu4782=) c.14340A>G (p.Leu4780=) c.14316A>G (p.Leu4772=) c.14139A>G (p.Leu4713=) c.14283A>G (p.Leu4761=) c.14355A>G (p.Leu4785=) | dbSNP |
| 1 | g.237808924A>T | CA345424077 | RYR2 | c.*5414A>T (n.*5414A>T) c.14304A>T (p.Leu4768Phe) c.14343A>T (p.Leu4781Phe) c.6493A>T c.14322A>T (p.Leu4774Phe) c.14271A>T (p.Leu4757Phe) n.833A>T c.14376A>T (p.Leu4792Phe) c.14373A>T (p.Leu4791Phe) c.14352A>T (p.Leu4784Phe) c.14346A>T (p.Leu4782Phe) c.14340A>T (p.Leu4780Phe) c.14316A>T (p.Leu4772Phe) c.14139A>T (p.Leu4713Phe) c.14283A>T (p.Leu4761Phe) c.14355A>T (p.Leu4785Phe) | |
| 1 | g.237808925G>A | CA345424082 | RYR2 | c.*5415G>A (n.*5415G>A) c.14305G>A (p.Ala4769Thr) c.14344G>A (p.Ala4782Thr) c.6494G>A c.14323G>A (p.Ala4775Thr) c.14272G>A (p.Ala4758Thr) n.834G>A c.14377G>A (p.Ala4793Thr) c.14374G>A (p.Ala4792Thr) c.14353G>A (p.Ala4785Thr) c.14347G>A (p.Ala4783Thr) c.14341G>A (p.Ala4781Thr) c.14317G>A (p.Ala4773Thr) c.14140G>A (p.Ala4714Thr) c.14284G>A (p.Ala4762Thr) c.14356G>A (p.Ala4786Thr) | |
| 1 | g.237808925G>C | CA345424084 | RYR2 | c.*5415G>C (n.*5415G>C) c.14305G>C (p.Ala4769Pro) c.14344G>C (p.Ala4782Pro) c.6494G>C c.14323G>C (p.Ala4775Pro) c.14272G>C (p.Ala4758Pro) n.834G>C c.14377G>C (p.Ala4793Pro) c.14374G>C (p.Ala4792Pro) c.14353G>C (p.Ala4785Pro) c.14347G>C (p.Ala4783Pro) c.14341G>C (p.Ala4781Pro) c.14317G>C (p.Ala4773Pro) c.14140G>C (p.Ala4714Pro) c.14284G>C (p.Ala4762Pro) c.14356G>C (p.Ala4786Pro) | |
| 1 | g.237808925G>T | CA345424078 | RYR2 | c.*5415G>T (n.*5415G>T) c.14305G>T (p.Ala4769Ser) c.14344G>T (p.Ala4782Ser) c.6494G>T c.14323G>T (p.Ala4775Ser) c.14272G>T (p.Ala4758Ser) n.834G>T c.14377G>T (p.Ala4793Ser) c.14374G>T (p.Ala4792Ser) c.14353G>T (p.Ala4785Ser) c.14347G>T (p.Ala4783Ser) c.14341G>T (p.Ala4781Ser) c.14317G>T (p.Ala4773Ser) c.14140G>T (p.Ala4714Ser) c.14284G>T (p.Ala4762Ser) c.14356G>T (p.Ala4786Ser) | |
| 1 | g.237808926C>A | CA345424087 | RYR2 | c.*5416C>A (n.*5416C>A) c.14306C>A (p.Ala4769Asp) c.14345C>A (p.Ala4782Asp) c.6495C>A c.14324C>A (p.Ala4775Asp) c.14273C>A (p.Ala4758Asp) n.835C>A c.14378C>A (p.Ala4793Asp) c.14375C>A (p.Ala4792Asp) c.14354C>A (p.Ala4785Asp) c.14348C>A (p.Ala4783Asp) c.14342C>A (p.Ala4781Asp) c.14318C>A (p.Ala4773Asp) c.14141C>A (p.Ala4714Asp) c.14285C>A (p.Ala4762Asp) c.14357C>A (p.Ala4786Asp) | |
| 1 | g.237808926C= | CA2487493378 | RYR2 | c.*5416C= (n.*5416C=) c.14306C= (p.Ala4769=) c.14345C= (p.Ala4782=) c.6495C= c.14324C= (p.Ala4775=) c.14273C= (p.Ala4758=) n.835C= c.14378C= (p.Ala4793=) c.14375C= (p.Ala4792=) c.14354C= (p.Ala4785=) c.14348C= (p.Ala4783=) c.14342C= (p.Ala4781=) c.14318C= (p.Ala4773=) c.14141C= (p.Ala4714=) c.14285C= (p.Ala4762=) c.14357C= (p.Ala4786=) | |
| 1 | g.237808926C>G | CA345424090 | RYR2 | c.*5416C>G (n.*5416C>G) c.14306C>G (p.Ala4769Gly) c.14345C>G (p.Ala4782Gly) c.6495C>G c.14324C>G (p.Ala4775Gly) c.14273C>G (p.Ala4758Gly) n.835C>G c.14378C>G (p.Ala4793Gly) c.14375C>G (p.Ala4792Gly) c.14354C>G (p.Ala4785Gly) c.14348C>G (p.Ala4783Gly) c.14342C>G (p.Ala4781Gly) c.14318C>G (p.Ala4773Gly) c.14141C>G (p.Ala4714Gly) c.14285C>G (p.Ala4762Gly) c.14357C>G (p.Ala4786Gly) | |
| 1 | g.237808926C>T | CA345424092 | RYR2 | c.*5416C>T (n.*5416C>T) c.14306C>T (p.Ala4769Val) c.14345C>T (p.Ala4782Val) c.6495C>T c.14324C>T (p.Ala4775Val) c.14273C>T (p.Ala4758Val) n.835C>T c.14378C>T (p.Ala4793Val) c.14375C>T (p.Ala4792Val) c.14354C>T (p.Ala4785Val) c.14348C>T (p.Ala4783Val) c.14342C>T (p.Ala4781Val) c.14318C>T (p.Ala4773Val) c.14141C>T (p.Ala4714Val) c.14285C>T (p.Ala4762Val) c.14357C>T (p.Ala4786Val) | dbSNP |
| 1 | g.237808927T>A | CA424051702 | RYR2 | c.*5417T>A (n.*5417T>A) c.14307T>A (p.Ala4769=) c.14346T>A (p.Ala4782=) c.6496T>A c.14325T>A (p.Ala4775=) c.14274T>A (p.Ala4758=) n.836T>A c.14379T>A (p.Ala4793=) c.14376T>A (p.Ala4792=) c.14355T>A (p.Ala4785=) c.14349T>A (p.Ala4783=) c.14343T>A (p.Ala4781=) c.14319T>A (p.Ala4773=) c.14142T>A (p.Ala4714=) c.14286T>A (p.Ala4762=) c.14358T>A (p.Ala4786=) | |
| 1 | g.237808927T>C | CA068301 | RYR2 | c.*5417T>C (n.*5417T>C) c.14307T>C (p.Ala4769=) c.14346T>C (p.Ala4782=) c.6496T>C c.14325T>C (p.Ala4775=) c.14274T>C (p.Ala4758=) n.836T>C c.14379T>C (p.Ala4793=) c.14376T>C (p.Ala4792=) c.14355T>C (p.Ala4785=) c.14349T>C (p.Ala4783=) c.14343T>C (p.Ala4781=) c.14319T>C (p.Ala4773=) c.14142T>C (p.Ala4714=) c.14286T>C (p.Ala4762=) c.14358T>C (p.Ala4786=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.237808927T>G | CA424051703 | RYR2 | c.*5417T>G (n.*5417T>G) c.14307T>G (p.Ala4769=) c.14346T>G (p.Ala4782=) c.6496T>G c.14325T>G (p.Ala4775=) c.14274T>G (p.Ala4758=) n.836T>G c.14379T>G (p.Ala4793=) c.14376T>G (p.Ala4792=) c.14355T>G (p.Ala4785=) c.14349T>G (p.Ala4783=) c.14343T>G (p.Ala4781=) c.14319T>G (p.Ala4773=) c.14142T>G (p.Ala4714=) c.14286T>G (p.Ala4762=) c.14358T>G (p.Ala4786=) | |
| 1 | g.237808927T= | CA2487493379 | RYR2 | c.*5417T= (n.*5417T=) c.14307T= (p.Ala4769=) c.14346T= (p.Ala4782=) c.6496T= c.14325T= (p.Ala4775=) c.14274T= (p.Ala4758=) n.836T= c.14379T= (p.Ala4793=) c.14376T= (p.Ala4792=) c.14355T= (p.Ala4785=) c.14349T= (p.Ala4783=) c.14343T= (p.Ala4781=) c.14319T= (p.Ala4773=) c.14142T= (p.Ala4714=) c.14286T= (p.Ala4762=) c.14358T= (p.Ala4786=) | |
| 1 | g.237808928G>A | CA345424094 | RYR2 | c.*5418G>A (n.*5418G>A) c.14308G>A (p.Val4770Ile) c.14347G>A (p.Val4783Ile) c.6497G>A c.14326G>A (p.Val4776Ile) c.14275G>A (p.Val4759Ile) n.837G>A c.14380G>A (p.Val4794Ile) c.14377G>A (p.Val4793Ile) c.14356G>A (p.Val4786Ile) c.14350G>A (p.Val4784Ile) c.14344G>A (p.Val4782Ile) c.14320G>A (p.Val4774Ile) c.14143G>A (p.Val4715Ile) c.14287G>A (p.Val4763Ile) c.14359G>A (p.Val4787Ile) | |
| 1 | g.237808928G>C | CA345424096 | RYR2 | c.*5418G>C (n.*5418G>C) c.14308G>C (p.Val4770Leu) c.14347G>C (p.Val4783Leu) c.6497G>C c.14326G>C (p.Val4776Leu) c.14275G>C (p.Val4759Leu) n.837G>C c.14380G>C (p.Val4794Leu) c.14377G>C (p.Val4793Leu) c.14356G>C (p.Val4786Leu) c.14350G>C (p.Val4784Leu) c.14344G>C (p.Val4782Leu) c.14320G>C (p.Val4774Leu) c.14143G>C (p.Val4715Leu) c.14287G>C (p.Val4763Leu) c.14359G>C (p.Val4787Leu) | |
| 1 | g.237808928G>T | CA345424098 | RYR2 | c.*5418G>T (n.*5418G>T) c.14308G>T (p.Val4770Phe) c.14347G>T (p.Val4783Phe) c.6497G>T c.14326G>T (p.Val4776Phe) c.14275G>T (p.Val4759Phe) n.837G>T c.14380G>T (p.Val4794Phe) c.14377G>T (p.Val4793Phe) c.14356G>T (p.Val4786Phe) c.14350G>T (p.Val4784Phe) c.14344G>T (p.Val4782Phe) c.14320G>T (p.Val4774Phe) c.14143G>T (p.Val4715Phe) c.14287G>T (p.Val4763Phe) c.14359G>T (p.Val4787Phe) | |
| 1 | g.237808929T>A | CA345424100 | RYR2 | c.*5419T>A (n.*5419T>A) c.14309T>A (p.Val4770Asp) c.14348T>A (p.Val4783Asp) c.6498T>A c.14327T>A (p.Val4776Asp) c.14276T>A (p.Val4759Asp) n.838T>A c.14381T>A (p.Val4794Asp) c.14378T>A (p.Val4793Asp) c.14357T>A (p.Val4786Asp) c.14351T>A (p.Val4784Asp) c.14345T>A (p.Val4782Asp) c.14321T>A (p.Val4774Asp) c.14144T>A (p.Val4715Asp) c.14288T>A (p.Val4763Asp) c.14360T>A (p.Val4787Asp) | |
| 1 | g.237808929T>C | CA345424105 | RYR2 | c.*5419T>C (n.*5419T>C) c.14309T>C (p.Val4770Ala) c.14348T>C (p.Val4783Ala) c.6498T>C c.14327T>C (p.Val4776Ala) c.14276T>C (p.Val4759Ala) n.838T>C c.14381T>C (p.Val4794Ala) c.14378T>C (p.Val4793Ala) c.14357T>C (p.Val4786Ala) c.14351T>C (p.Val4784Ala) c.14345T>C (p.Val4782Ala) c.14321T>C (p.Val4774Ala) c.14144T>C (p.Val4715Ala) c.14288T>C (p.Val4763Ala) c.14360T>C (p.Val4787Ala) | |
| 1 | g.237808929T>G | CA345424119 | RYR2 | c.*5419T>G (n.*5419T>G) c.14309T>G (p.Val4770Gly) c.14348T>G (p.Val4783Gly) c.6498T>G c.14327T>G (p.Val4776Gly) c.14276T>G (p.Val4759Gly) n.838T>G c.14381T>G (p.Val4794Gly) c.14378T>G (p.Val4793Gly) c.14357T>G (p.Val4786Gly) c.14351T>G (p.Val4784Gly) c.14345T>G (p.Val4782Gly) c.14321T>G (p.Val4774Gly) c.14144T>G (p.Val4715Gly) c.14288T>G (p.Val4763Gly) c.14360T>G (p.Val4787Gly) | |
| 1 | g.237808930T>A | CA424051704 | RYR2 | c.*5420T>A (n.*5420T>A) c.14310T>A (p.Val4770=) c.14349T>A (p.Val4783=) c.6499T>A c.14328T>A (p.Val4776=) c.14277T>A (p.Val4759=) n.839T>A c.14382T>A (p.Val4794=) c.14379T>A (p.Val4793=) c.14358T>A (p.Val4786=) c.14352T>A (p.Val4784=) c.14346T>A (p.Val4782=) c.14322T>A (p.Val4774=) c.14145T>A (p.Val4715=) c.14289T>A (p.Val4763=) c.14361T>A (p.Val4787=) | |
| 1 | g.237808930T>C | CA424051705 | RYR2 | c.*5420T>C (n.*5420T>C) c.14310T>C (p.Val4770=) c.14349T>C (p.Val4783=) c.6499T>C c.14328T>C (p.Val4776=) c.14277T>C (p.Val4759=) n.839T>C c.14382T>C (p.Val4794=) c.14379T>C (p.Val4793=) c.14358T>C (p.Val4786=) c.14352T>C (p.Val4784=) c.14346T>C (p.Val4782=) c.14322T>C (p.Val4774=) c.14145T>C (p.Val4715=) c.14289T>C (p.Val4763=) c.14361T>C (p.Val4787=) | |
| 1 | g.237808930T>G | CA424051706 | RYR2 | c.*5420T>G (n.*5420T>G) c.14310T>G (p.Val4770=) c.14349T>G (p.Val4783=) c.6499T>G c.14328T>G (p.Val4776=) c.14277T>G (p.Val4759=) n.839T>G c.14382T>G (p.Val4794=) c.14379T>G (p.Val4793=) c.14358T>G (p.Val4786=) c.14352T>G (p.Val4784=) c.14346T>G (p.Val4782=) c.14322T>G (p.Val4774=) c.14145T>G (p.Val4715=) c.14289T>G (p.Val4763=) c.14361T>G (p.Val4787=) | |
| 1 | g.237808931G>A | CA345424123 | RYR2 | c.*5421G>A (n.*5421G>A) c.14311G>A (p.Val4771Ile) c.14350G>A (p.Val4784Ile) c.6500G>A c.14329G>A (p.Val4777Ile) c.14278G>A (p.Val4760Ile) n.840G>A c.14383G>A (p.Val4795Ile) c.14380G>A (p.Val4794Ile) c.14359G>A (p.Val4787Ile) c.14353G>A (p.Val4785Ile) c.14347G>A (p.Val4783Ile) c.14323G>A (p.Val4775Ile) c.14146G>A (p.Val4716Ile) c.14290G>A (p.Val4764Ile) c.14362G>A (p.Val4788Ile) |