| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.237627977G>A | CA010110 | RYR2 | c.6337G>A (p.Val2113Met) c.6289G>A (p.Val2097Met) c.6367G>A (p.Val2123Met) c.6364G>A (p.Val2122Met) c.6334G>A (p.Val2112Met) n.6648G>A c.6346G>A (p.Val2116Met) n.6681G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237627977G>C | CA345411333 | RYR2 | c.6337G>C (p.Val2113Leu) c.6289G>C (p.Val2097Leu) c.6367G>C (p.Val2123Leu) c.6364G>C (p.Val2122Leu) c.6334G>C (p.Val2112Leu) n.6648G>C c.6346G>C (p.Val2116Leu) n.6681G>C | |
| 1 | g.237627977G= | CA1142882953 | RYR2 | c.6337G= (p.Val2113=) c.6289G= (p.Val2097=) c.6367G= (p.Val2123=) c.6364G= (p.Val2122=) c.6334G= (p.Val2112=) n.6648G= c.6346G= (p.Val2116=) n.6681G= | |
| 1 | g.237627977G>T | CA345411335 | RYR2 | c.6337G>T (p.Val2113Leu) c.6289G>T (p.Val2097Leu) c.6367G>T (p.Val2123Leu) c.6364G>T (p.Val2122Leu) c.6334G>T (p.Val2112Leu) n.6648G>T c.6346G>T (p.Val2116Leu) n.6681G>T | gnomAD v4 |
| 1 | g.237627978T>A | CA345411338 | RYR2 | c.6338T>A (p.Val2113Glu) c.6290T>A (p.Val2097Glu) c.6368T>A (p.Val2123Glu) c.6365T>A (p.Val2122Glu) c.6335T>A (p.Val2112Glu) n.6649T>A c.6347T>A (p.Val2116Glu) n.6682T>A | |
| 1 | g.237627978T>C | CA345411336 | RYR2 | c.6338T>C (p.Val2113Ala) c.6290T>C (p.Val2097Ala) c.6368T>C (p.Val2123Ala) c.6365T>C (p.Val2122Ala) c.6335T>C (p.Val2112Ala) n.6649T>C c.6347T>C (p.Val2116Ala) n.6682T>C | |
| 1 | g.237627978T>G | CA345411337 | RYR2 | c.6338T>G (p.Val2113Gly) c.6290T>G (p.Val2097Gly) c.6368T>G (p.Val2123Gly) c.6365T>G (p.Val2122Gly) c.6335T>G (p.Val2112Gly) n.6649T>G c.6347T>G (p.Val2116Gly) n.6682T>G | |
| 1 | g.237627979G>A | CA423821901 | RYR2 | c.6339G>A (p.Val2113=) c.6291G>A (p.Val2097=) c.6369G>A (p.Val2123=) c.6366G>A (p.Val2122=) c.6336G>A (p.Val2112=) n.6650G>A c.6348G>A (p.Val2116=) n.6683G>A | |
| 1 | g.237627979G>C | CA423821903 | RYR2 | c.6339G>C (p.Val2113=) c.6291G>C (p.Val2097=) c.6369G>C (p.Val2123=) c.6366G>C (p.Val2122=) c.6336G>C (p.Val2112=) n.6650G>C c.6348G>C (p.Val2116=) n.6683G>C | |
| 1 | g.237627979G>T | CA423821902 | RYR2 | c.6339G>T (p.Val2113=) c.6291G>T (p.Val2097=) c.6369G>T (p.Val2123=) c.6366G>T (p.Val2122=) c.6336G>T (p.Val2112=) n.6650G>T c.6348G>T (p.Val2116=) n.6683G>T | |
| 1 | g.237627980G>A | CA345411339 | RYR2 | c.6340G>A (p.Glu2114Lys) c.6292G>A (p.Glu2098Lys) c.6370G>A (p.Glu2124Lys) c.6367G>A (p.Glu2123Lys) c.6337G>A (p.Glu2113Lys) n.6651G>A c.6349G>A (p.Glu2117Lys) n.6684G>A | |
| 1 | g.237627980G>C | CA087094 | RYR2 | c.6340G>C (p.Glu2114Gln) c.6292G>C (p.Glu2098Gln) c.6370G>C (p.Glu2124Gln) c.6367G>C (p.Glu2123Gln) c.6337G>C (p.Glu2113Gln) n.6651G>C c.6349G>C (p.Glu2117Gln) n.6684G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.237627980G= | CA2487418005 | RYR2 | c.6340G= (p.Glu2114=) c.6292G= (p.Glu2098=) c.6370G= (p.Glu2124=) c.6367G= (p.Glu2123=) c.6337G= (p.Glu2113=) n.6651G= c.6349G= (p.Glu2117=) n.6684G= | |
| 1 | g.237627980G>T | CA345411340 | RYR2 | c.6340G>T (p.Glu2114Ter) c.6292G>T (p.Glu2098Ter) c.6370G>T (p.Glu2124Ter) c.6367G>T (p.Glu2123Ter) c.6337G>T (p.Glu2113Ter) n.6651G>T c.6349G>T (p.Glu2117Ter) n.6684G>T | |
| 1 | g.237627981A>C | CA345411341 | RYR2 | c.6341A>C (p.Glu2114Ala) c.6293A>C (p.Glu2098Ala) c.6371A>C (p.Glu2124Ala) c.6368A>C (p.Glu2123Ala) c.6338A>C (p.Glu2113Ala) n.6652A>C c.6350A>C (p.Glu2117Ala) n.6685A>C | |
| 1 | g.237627981A>G | CA345411342 | RYR2 | c.6341A>G (p.Glu2114Gly) c.6293A>G (p.Glu2098Gly) c.6371A>G (p.Glu2124Gly) c.6368A>G (p.Glu2123Gly) c.6338A>G (p.Glu2113Gly) n.6652A>G c.6350A>G (p.Glu2117Gly) n.6685A>G | |
| 1 | g.237627981A>T | CA345411343 | RYR2 | c.6341A>T (p.Glu2114Val) c.6293A>T (p.Glu2098Val) c.6371A>T (p.Glu2124Val) c.6368A>T (p.Glu2123Val) c.6338A>T (p.Glu2113Val) n.6652A>T c.6350A>T (p.Glu2117Val) n.6685A>T | |
| 1 | g.237627982G>A | CA423821904 | RYR2 | c.6342G>A (p.Glu2114=) c.6294G>A (p.Glu2098=) c.6372G>A (p.Glu2124=) c.6369G>A (p.Glu2123=) c.6339G>A (p.Glu2113=) n.6653G>A c.6351G>A (p.Glu2117=) n.6686G>A | |
| 1 | g.237627982G>C | CA345411344 | RYR2 | c.6342G>C (p.Glu2114Asp) c.6294G>C (p.Glu2098Asp) c.6372G>C (p.Glu2124Asp) c.6369G>C (p.Glu2123Asp) c.6339G>C (p.Glu2113Asp) n.6653G>C c.6351G>C (p.Glu2117Asp) n.6686G>C | |
| 1 | g.237627982G>T | CA345411345 | RYR2 | c.6342G>T (p.Glu2114Asp) c.6294G>T (p.Glu2098Asp) c.6372G>T (p.Glu2124Asp) c.6369G>T (p.Glu2123Asp) c.6339G>T (p.Glu2113Asp) n.6653G>T c.6351G>T (p.Glu2117Asp) n.6686G>T | |
| 1 | g.237627983G>A | CA345411346 | RYR2 | c.6343G>A (p.Asp2115Asn) c.6295G>A (p.Asp2099Asn) c.6373G>A (p.Asp2125Asn) c.6370G>A (p.Asp2124Asn) c.6340G>A (p.Asp2114Asn) n.6654G>A c.6352G>A (p.Asp2118Asn) n.6687G>A | COSMIC COSMIC |
| 1 | g.237627983G>C | CA345411347 | RYR2 | c.6343G>C (p.Asp2115His) c.6295G>C (p.Asp2099His) c.6373G>C (p.Asp2125His) c.6370G>C (p.Asp2124His) c.6340G>C (p.Asp2114His) n.6654G>C c.6352G>C (p.Asp2118His) n.6687G>C | gnomAD v4 |
| 1 | g.237627983G>T | CA345411348 | RYR2 | c.6343G>T (p.Asp2115Tyr) c.6295G>T (p.Asp2099Tyr) c.6373G>T (p.Asp2125Tyr) c.6370G>T (p.Asp2124Tyr) c.6340G>T (p.Asp2114Tyr) n.6654G>T c.6352G>T (p.Asp2118Tyr) n.6687G>T | |
| 1 | g.237627984A>C | CA345411351 | RYR2 | c.6344A>C (p.Asp2115Ala) c.6296A>C (p.Asp2099Ala) c.6374A>C (p.Asp2125Ala) c.6371A>C (p.Asp2124Ala) c.6341A>C (p.Asp2114Ala) n.6655A>C c.6353A>C (p.Asp2118Ala) n.6688A>C | |
| 1 | g.237627984A>G | CA345411349 | RYR2 | c.6344A>G (p.Asp2115Gly) c.6296A>G (p.Asp2099Gly) c.6374A>G (p.Asp2125Gly) c.6371A>G (p.Asp2124Gly) c.6341A>G (p.Asp2114Gly) n.6655A>G c.6353A>G (p.Asp2118Gly) n.6688A>G | gnomAD v4 |
| 1 | g.237627984A>T | CA345411350 | RYR2 | c.6344A>T (p.Asp2115Val) c.6296A>T (p.Asp2099Val) c.6374A>T (p.Asp2125Val) c.6371A>T (p.Asp2124Val) c.6341A>T (p.Asp2114Val) n.6655A>T c.6353A>T (p.Asp2118Val) n.6688A>T | |
| 1 | g.237627985C>A | CA345411352 | RYR2 | c.6345C>A (p.Asp2115Glu) c.6297C>A (p.Asp2099Glu) c.6375C>A (p.Asp2125Glu) c.6372C>A (p.Asp2124Glu) c.6342C>A (p.Asp2114Glu) n.6656C>A c.6354C>A (p.Asp2118Glu) n.6689C>A | |
| 1 | g.237627985C>G | CA345411353 | RYR2 | c.6345C>G (p.Asp2115Glu) c.6297C>G (p.Asp2099Glu) c.6375C>G (p.Asp2125Glu) c.6372C>G (p.Asp2124Glu) c.6342C>G (p.Asp2114Glu) n.6656C>G c.6354C>G (p.Asp2118Glu) n.6689C>G | |
| 1 | g.237627985C>T | CA423821905 | RYR2 | c.6345C>T (p.Asp2115=) c.6297C>T (p.Asp2099=) c.6375C>T (p.Asp2125=) c.6372C>T (p.Asp2124=) c.6342C>T (p.Asp2114=) n.6656C>T c.6354C>T (p.Asp2118=) n.6689C>T | gnomAD v4 |
| 1 | g.237627986A= | CA2487418006 | RYR2 | c.6346A= (p.Thr2116=) c.6298A= (p.Thr2100=) c.6376A= (p.Thr2126=) c.6373A= (p.Thr2125=) c.6343A= (p.Thr2115=) n.6657A= c.6355A= (p.Thr2119=) n.6690A= | |
| 1 | g.237627986A>C | CA345411354 | RYR2 | c.6346A>C (p.Thr2116Pro) c.6298A>C (p.Thr2100Pro) c.6376A>C (p.Thr2126Pro) c.6373A>C (p.Thr2125Pro) c.6343A>C (p.Thr2115Pro) n.6657A>C c.6355A>C (p.Thr2119Pro) n.6690A>C | |
| 1 | g.237627986A>G | CA087095 | RYR2 | c.6346A>G (p.Thr2116Ala) c.6298A>G (p.Thr2100Ala) c.6376A>G (p.Thr2126Ala) c.6373A>G (p.Thr2125Ala) c.6343A>G (p.Thr2115Ala) n.6657A>G c.6355A>G (p.Thr2119Ala) n.6690A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237627986A>T | CA345411355 | RYR2 | c.6346A>T (p.Thr2116Ser) c.6298A>T (p.Thr2100Ser) c.6376A>T (p.Thr2126Ser) c.6373A>T (p.Thr2125Ser) c.6343A>T (p.Thr2115Ser) n.6657A>T c.6355A>T (p.Thr2119Ser) n.6690A>T | |
| 1 | g.237627987C>A | CA345411356 | RYR2 | c.6347C>A (p.Thr2116Asn) c.6299C>A (p.Thr2100Asn) c.6377C>A (p.Thr2126Asn) c.6374C>A (p.Thr2125Asn) c.6344C>A (p.Thr2115Asn) n.6658C>A c.6356C>A (p.Thr2119Asn) n.6691C>A | |
| 1 | g.237627987C>G | CA345411357 | RYR2 | c.6347C>G (p.Thr2116Ser) c.6299C>G (p.Thr2100Ser) c.6377C>G (p.Thr2126Ser) c.6374C>G (p.Thr2125Ser) c.6344C>G (p.Thr2115Ser) n.6658C>G c.6356C>G (p.Thr2119Ser) n.6691C>G | |
| 1 | g.237627987C>T | CA345411358 | RYR2 | c.6347C>T (p.Thr2116Ile) c.6299C>T (p.Thr2100Ile) c.6377C>T (p.Thr2126Ile) c.6374C>T (p.Thr2125Ile) c.6344C>T (p.Thr2115Ile) n.6658C>T c.6356C>T (p.Thr2119Ile) n.6691C>T | |
| 1 | g.237627988C>A | CA423821906 | RYR2 | c.6348C>A (p.Thr2116=) c.6300C>A (p.Thr2100=) c.6378C>A (p.Thr2126=) c.6375C>A (p.Thr2125=) c.6345C>A (p.Thr2115=) n.6659C>A c.6357C>A (p.Thr2119=) n.6692C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.237627988C= | CA2487418007 | RYR2 | c.6348C= (p.Thr2116=) c.6300C= (p.Thr2100=) c.6378C= (p.Thr2126=) c.6375C= (p.Thr2125=) c.6345C= (p.Thr2115=) n.6659C= c.6357C= (p.Thr2119=) n.6692C= | |
| 1 | g.237627988C>G | CA423821907 | RYR2 | c.6348C>G (p.Thr2116=) c.6300C>G (p.Thr2100=) c.6378C>G (p.Thr2126=) c.6375C>G (p.Thr2125=) c.6345C>G (p.Thr2115=) n.6659C>G c.6357C>G (p.Thr2119=) n.6692C>G | |
| 1 | g.237627988C>T | CA423821908 | RYR2 | c.6348C>T (p.Thr2116=) c.6300C>T (p.Thr2100=) c.6378C>T (p.Thr2126=) c.6375C>T (p.Thr2125=) c.6345C>T (p.Thr2115=) n.6659C>T c.6357C>T (p.Thr2119=) n.6692C>T | dbSNP |
| 1 | g.237627989A= | CA2487418008 | RYR2 | c.6349A= (p.Ile2117=) c.6301A= (p.Ile2101=) c.6379A= (p.Ile2127=) c.6376A= (p.Ile2126=) c.6346A= (p.Ile2116=) n.6660A= c.6358A= (p.Ile2120=) n.6693A= | |
| 1 | g.237627989A>C | CA345411359 | RYR2 | c.6349A>C (p.Ile2117Leu) c.6301A>C (p.Ile2101Leu) c.6379A>C (p.Ile2127Leu) c.6376A>C (p.Ile2126Leu) c.6346A>C (p.Ile2116Leu) n.6660A>C c.6358A>C (p.Ile2120Leu) n.6693A>C | gnomAD v4 |
| 1 | g.237627989A>G | CA39839686 | RYR2 | c.6349A>G (p.Ile2117Val) c.6301A>G (p.Ile2101Val) c.6379A>G (p.Ile2127Val) c.6376A>G (p.Ile2126Val) c.6346A>G (p.Ile2116Val) n.6660A>G c.6358A>G (p.Ile2120Val) n.6693A>G | ClinVar dbSNP COSMIC |
| 1 | g.237627989A>T | CA345411360 | RYR2 | c.6349A>T (p.Ile2117Phe) c.6301A>T (p.Ile2101Phe) c.6379A>T (p.Ile2127Phe) c.6376A>T (p.Ile2126Phe) c.6346A>T (p.Ile2116Phe) n.6660A>T c.6358A>T (p.Ile2120Phe) n.6693A>T | |
| 1 | g.237627990T>A | CA345411361 | RYR2 | c.6350T>A (p.Ile2117Asn) c.6302T>A (p.Ile2101Asn) c.6380T>A (p.Ile2127Asn) c.6377T>A (p.Ile2126Asn) c.6347T>A (p.Ile2116Asn) n.6661T>A c.6359T>A (p.Ile2120Asn) n.6694T>A | |
| 1 | g.237627990T>C | CA345411362 | RYR2 | c.6350T>C (p.Ile2117Thr) c.6302T>C (p.Ile2101Thr) c.6380T>C (p.Ile2127Thr) c.6377T>C (p.Ile2126Thr) c.6347T>C (p.Ile2116Thr) n.6661T>C c.6359T>C (p.Ile2120Thr) n.6694T>C | gnomAD v4 |
| 1 | g.237627990T>G | CA345411363 | RYR2 | c.6350T>G (p.Ile2117Ser) c.6302T>G (p.Ile2101Ser) c.6380T>G (p.Ile2127Ser) c.6377T>G (p.Ile2126Ser) c.6347T>G (p.Ile2116Ser) n.6661T>G c.6359T>G (p.Ile2120Ser) n.6694T>G | |
| 1 | g.237627991C>A | CA423821909 | RYR2 | c.6351C>A (p.Ile2117=) c.6303C>A (p.Ile2101=) c.6381C>A (p.Ile2127=) c.6378C>A (p.Ile2126=) c.6348C>A (p.Ile2116=) n.6662C>A c.6360C>A (p.Ile2120=) n.6695C>A | |
| 1 | g.237627991C>G | CA345411364 | RYR2 | c.6351C>G (p.Ile2117Met) c.6303C>G (p.Ile2101Met) c.6381C>G (p.Ile2127Met) c.6378C>G (p.Ile2126Met) c.6348C>G (p.Ile2116Met) n.6662C>G c.6360C>G (p.Ile2120Met) n.6695C>G | |
| 1 | g.237627991C>T | CA423821910 | RYR2 | c.6351C>T (p.Ile2117=) c.6303C>T (p.Ile2101=) c.6381C>T (p.Ile2127=) c.6378C>T (p.Ile2126=) c.6348C>T (p.Ile2116=) n.6662C>T c.6360C>T (p.Ile2120=) n.6695C>T |