| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38585066_38585068dup | CA658658816 | RYR1 | c.1706_1708dup c.3103_3105dup c.3075_3077dup n.163_165dup c.14770_14772dup (p.Phe4924_Val4925insPhe) c.14755_14757dup (p.Phe4919_Val4920insPhe) c.14752_14754dup (p.Phe4918_Val4919insPhe) c.14737_14739dup (p.Phe4913_Val4914insPhe) c.14767_14769dup (p.Phe4923_Val4924insPhe) c.14683_14685dup (p.Phe4895_Val4896insPhe) | ClinVar dbSNP |
| 19 | g.38585066_38585068del | CA16620842 | RYR1 | c.1706_1708del c.3103_3105del c.3075_3077del n.163_165del c.14770_14772del (p.Phe4924del) c.14755_14757del (p.Phe4919del) c.14752_14754del (p.Phe4918del) c.14737_14739del (p.Phe4913del) c.14767_14769del (p.Phe4923del) c.14683_14685del (p.Phe4895del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38585063_38585068dup | CA2580614898 | RYR1 | c.1703_1708dup c.3100_3105dup c.3072_3077dup n.160_165dup c.14767_14772dup (p.Phe4924_Val4925insPhePhe) c.14752_14757dup (p.Phe4919_Val4920insPhePhe) c.14749_14754dup (p.Phe4918_Val4919insPhePhe) c.14734_14739dup (p.Phe4913_Val4914insPhePhe) c.14764_14769dup (p.Phe4923_Val4924insPhePhe) c.14680_14685dup (p.Phe4895_Val4896insPhePhe) | ClinVar dbSNP |