| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.77012039del | CA5568235 | KCNMA1 | c.1662del c.1430del c.2026del (p.Tyr676ThrfsTer15) c.1831del (p.Tyr611ThrfsTer15) c.1959del c.1849del (p.Tyr617ThrfsTer15) c.2038del (p.Tyr680ThrfsTer15) c.503del n.575del c.1621del (p.Tyr541ThrfsTer15) c.1273del (p.Tyr425ThrfsTer15) c.1316del c.1675del (p.Tyr559ThrfsTer15) c.1660del (p.Tyr554ThrfsTer15) n.22del c.2158del (p.Tyr720ThrfsTer15) n.1550del c.1442del (n.1442del) c.1471del (p.Tyr491ThrfsTer15) c.1994del n.1202del n.1662del c.1878del c.1964del c.*722del (n.*722del) n.2094+6980del c.1185del c.217del (p.Tyr73ThrfsTer15) c.1383del c.1843del (p.Tyr615ThrfsTer15) n.2163del c.*861del (n.*861del) c.1748+15790del (n.1748+15790del) c.1923del (n.1923del) c.1457del c.1763del (n.1763del) n.1640del c.1669del (p.Tyr557ThrfsTer15) c.1952del c.1876del (p.Tyr626ThrfsTer15) c.1522del (p.Tyr508ThrfsTer15) c.1837del (p.Tyr613ThrfsTer15) c.1946del c.1534del (p.Tyr512ThrfsTer15) c.1061del c.1948del (p.Tyr650ThrfsTer15) n.62del c.2170del (p.Tyr724ThrfsTer15) c.1486del (p.Tyr496ThrfsTer15) c.1384del (p.Tyr462ThrfsTer15) c.1564del (p.Tyr522ThrfsTer15) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 10 | g.77012039dup | CA5568234 | KCNMA1 | c.1662dup c.1430dup c.2026dup (p.Tyr676LeufsTer7) c.1831dup (p.Tyr611LeufsTer7) c.1959dup c.1849dup (p.Tyr617LeufsTer7) c.2038dup (p.Tyr680LeufsTer7) c.503dup n.575dup c.1621dup (p.Tyr541LeufsTer7) c.1273dup (p.Tyr425LeufsTer7) c.1316dup c.1675dup (p.Tyr559LeufsTer7) c.1660dup (p.Tyr554LeufsTer7) n.22dup c.2158dup (p.Tyr720LeufsTer7) n.1550dup c.1442dup (n.1442dup) c.1471dup (p.Tyr491LeufsTer7) c.1994dup n.1202dup n.1662dup c.1878dup c.1964dup c.*722dup (n.*722dup) n.2094+6980dup c.1185dup c.217dup (p.Tyr73LeufsTer7) c.1383dup c.1843dup (p.Tyr615LeufsTer7) n.2163dup c.*861dup (n.*861dup) c.1748+15790dup (n.1748+15790dup) c.1923dup (n.1923dup) c.1457dup c.1763dup (n.1763dup) n.1640dup c.1669dup (p.Tyr557LeufsTer7) c.1952dup c.1876dup (p.Tyr626LeufsTer7) c.1522dup (p.Tyr508LeufsTer7) c.1837dup (p.Tyr613LeufsTer7) c.1946dup c.1534dup (p.Tyr512LeufsTer7) c.1061dup c.1948dup (p.Tyr650LeufsTer7) n.62dup c.2170dup (p.Tyr724LeufsTer7) c.1486dup (p.Tyr496LeufsTer7) c.1384dup (p.Tyr462LeufsTer7) c.1564dup (p.Tyr522LeufsTer7) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |