| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.26460094del | CA273475 | OTOF | c.5925del (p.Leu1976SerfsTer?) c.3512+553del (n.3512+553del) c.3684del (p.Leu1229SerfsTer?) c.3624del (p.Leu1209SerfsTer?) c.3855del (p.Leu1286SerfsTer?) c.5813+553del (n.5813+553del) c.5798+553del (n.5798+553del) c.5858+553del (n.5858+553del) c.5865del (p.Leu1956SerfsTer?) | ClinVar dbSNP |
| 2 | g.26460094C= | CA3085548411 | OTOF | c.5925G= (p.Leu1975=) c.3512+553G= (n.3512+553G=) c.3684G= (p.Leu1228=) c.3624G= (p.Leu1208=) c.3855G= (p.Leu1285=) c.5813+553G= (n.5813+553G=) c.5798+553G= (n.5798+553G=) c.5858+553G= (n.5858+553G=) c.5865G= (p.Leu1955=) | dbSNP |