| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.75286865A>G | CA214734 | TBC1D4 | c.3824T>C (p.Val1275Ala) c.3092T>C (p.Val1031Ala) c.3635T>C (p.Val1212Ala) c.3800T>C (p.Val1267Ala) c.3749T>C (p.Val1250Ala) c.3281T>C (p.Val1094Ala) c.3350T>C (p.Val1117Ala) c.3713T>C (p.Val1238Ala) c.2981T>C (p.Val994Ala) c.1391T>C (p.Val464Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.75286865A= | CA2102632589 | TBC1D4 | c.3824T= (p.Val1275=) c.3092T= (p.Val1031=) c.3635T= (p.Val1212=) c.3800T= (p.Val1267=) c.3749T= (p.Val1250=) c.3281T= (p.Val1094=) c.3350T= (p.Val1117=) c.3713T= (p.Val1238=) c.2981T= (p.Val994=) c.1391T= (p.Val464=) | dbSNP |