| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.75310080C>T | CA214715 | TBC1D4 | c.2455G>A (p.Val819Ile) c.1723G>A (p.Val575Ile) c.2266G>A (p.Val756Ile) c.802G>A (p.Val268Ile) c.2431G>A (p.Val811Ile) n.314G>A c.2380G>A (p.Val794Ile) c.1912G>A (p.Val638Ile) c.1981G>A (p.Val661Ile) c.2344G>A (p.Val782Ile) c.1612G>A (p.Val538Ile) c.22G>A (p.Val8Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.75310080C= | CA2102689361 | TBC1D4 | c.2455G= (p.Val819=) c.1723G= (p.Val575=) c.2266G= (p.Val756=) c.802G= (p.Val268=) c.2431G= (p.Val811=) n.314G= c.2380G= (p.Val794=) c.1912G= (p.Val638=) c.1981G= (p.Val661=) c.2344G= (p.Val782=) c.1612G= (p.Val538=) c.22G= (p.Val8=) | dbSNP |