| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.150948912G>T | CA006897 | KCNH2 | n.3369C>A c.2536C>A (p.Pro846Thr) c.1516C>A (p.Pro506Thr) c.2236C>A (p.Pro746Thr) c.2386C>A (p.Pro796Thr) c.2359C>A (p.Pro787Thr) | ClinVar dbSNP |
| 7 | g.150948912G>C | CA006908 | KCNH2 | n.3369C>G c.2536C>G (p.Pro846Ala) c.1516C>G (p.Pro506Ala) c.2236C>G (p.Pro746Ala) c.2386C>G (p.Pro796Ala) c.2359C>G (p.Pro787Ala) | ClinVar dbSNP |
| 7 | g.150948912G>A | CA006916 | KCNH2 | n.3369C>T c.2536C>T (p.Pro846Ser) c.1516C>T (p.Pro506Ser) c.2236C>T (p.Pro746Ser) c.2386C>T (p.Pro796Ser) c.2359C>T (p.Pro787Ser) | ClinVar dbSNP |
| 7 | g.150948912G= | CA1752431903 | KCNH2 | n.3369C= c.2536C= (p.Pro846=) c.1516C= (p.Pro506=) c.2236C= (p.Pro746=) c.2386C= (p.Pro796=) c.2359C= (p.Pro787=) | dbSNP |