| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.75963362_75963363del | CA16614471 | IFT43,TGFB3 | c.883_884del (p.Gly295SerfsTer28) n.1264_1265del n.90-25523_90-25522del c.883_884del (p.Gly295SerfsTer?) n.349_350del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.75963363dup | CA2580088789 | IFT43,TGFB3 | c.884dup (p.Gln296SerfsTer28) n.1265dup n.90-25522dup c.884dup (p.Gln296SerfsTer?) n.350dup | ClinVar dbSNP |
| 14 | g.75963363del | CA645583192 | IFT43,TGFB3 | c.884del (p.Gly295ValfsTer?) n.1265del n.90-25522del n.350del | ClinVar dbSNP gnomAD v4 COSMIC |