| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41341955G>A | CA249355 | TGFB1 | c.788C>T (p.Thr263Ile) c.712+215C>T (n.712+215C>T) c.634+2792C>T (n.634+2792C>T) c.76C>T n.172+215C>T c.791C>T (p.Thr264Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41341955G= | CA2336420998 | TGFB1 | c.788C= (p.Thr263=) c.712+215C= (n.712+215C=) c.634+2792C= (n.634+2792C=) c.76C= n.172+215C= c.791C= (p.Thr264=) | dbSNP |