| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117652851del | CA327327 | CFTR | c.*92del (n.*92del) c.*3597del (n.*3597del) c.3700del (p.Ile1234PhefsTer?) c.*96del (n.*96del) c.*536del (n.*536del) c.3883del (p.Ile1295PhefsTer?) c.*544del (n.*544del) c.*2258del (n.*2258del) c.3877del (p.Ile1293PhefsTer?) c.*3707del (n.*3707del) c.3457del (p.Ile1153PhefsTer?) n.2051del c.747del (n.747del) c.1670del (n.1670del) c.465del c.1333del c.3793del (p.Ile1265PhefsTer?) c.9del c.3973del (p.Ile1325PhefsTer?) c.3640del (p.Ile1214PhefsTer?) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117652851A= | CA1737411072 | CFTR | c.*92A= (n.*92A=) c.*3597A= (n.*3597A=) c.3700A= (p.Ile1234=) c.*96A= (n.*96A=) c.*536A= (n.*536A=) c.3883A= (p.Ile1295=) c.*544A= (n.*544A=) c.*2258A= (n.*2258A=) c.3877A= (p.Ile1293=) c.*3707A= (n.*3707A=) c.3457A= (p.Ile1153=) n.2051A= c.747A= (n.747A=) c.1670A= (n.1670A=) c.465A= c.1333A= c.3793A= (p.Ile1265=) c.9A= c.3973A= (p.Ile1325=) c.3640A= (p.Ile1214=) | dbSNP dbSNP dbSNP |