| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41352971C>G | CA9460177 | TGFB1,TMEM91 | c.74G>C (p.Arg25Pro) c.-30+1769C>G (n.-30+1769C>G) n.350+1769C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41352971C>T | CA406006321 | TGFB1,TMEM91 | c.74G>A (p.Arg25Gln) c.-30+1769C>T (n.-30+1769C>T) n.350+1769C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41352971C= | CA2336426193 | TGFB1,TMEM91 | c.74G= (p.Arg25=) c.-30+1769C= (n.-30+1769C=) n.350+1769C= | dbSNP |