| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.26463969C>T | CA346133674 | OTOF | c.5098G>A (p.Glu1700Lys) c.2797G>A (p.Glu933Lys) c.2857G>A (p.Glu953Lys) c.3028G>A (p.Glu1010Lys) n.847G>A c.5083G>A (p.Glu1695Lys) c.5143G>A (p.Glu1715Lys) c.5038G>A (p.Glu1680Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26463969C>G | CA345132 | OTOF | c.5098G>C (p.Glu1700Gln) c.2797G>C (p.Glu933Gln) c.2857G>C (p.Glu953Gln) c.3028G>C (p.Glu1010Gln) n.847G>C c.5083G>C (p.Glu1695Gln) c.5143G>C (p.Glu1715Gln) c.5038G>C (p.Glu1680Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26463969C= | CA1239814497 | OTOF | c.5098G= (p.Glu1700=) c.2797G= (p.Glu933=) c.2857G= (p.Glu953=) c.3028G= (p.Glu1010=) n.847G= c.5083G= (p.Glu1695=) c.5143G= (p.Glu1715=) c.5038G= (p.Glu1680=) | dbSNP |
| 2 | g.26463969C>A | CA346133671 | OTOF | c.5098G>T (p.Glu1700Ter) c.2797G>T (p.Glu933Ter) c.2857G>T (p.Glu953Ter) c.3028G>T (p.Glu1010Ter) n.847G>T c.5083G>T (p.Glu1695Ter) c.5143G>T (p.Glu1715Ter) c.5038G>T (p.Glu1680Ter) | dbSNP gnomAD v4 |