| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.72700522G>C | CA373724387 | TMC1 | c.241G>C (p.Glu81Gln) c.-77+5808G>C (n.-77+5808G>C) c.236+5808G>C (n.236+5808G>C) n.281G>C n.691G>C n.660+5808G>C c.829G>C (p.Glu277Gln) c.244G>C (p.Glu82Gln) | dbSNP |
| 9 | g.72700522G>A | CA142071 | TMC1 | c.241G>A (p.Glu81Lys) c.-77+5808G>A (n.-77+5808G>A) c.236+5808G>A (n.236+5808G>A) n.281G>A n.691G>A n.660+5808G>A c.829G>A (p.Glu277Lys) c.244G>A (p.Glu82Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |