Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.41353016G>A | CA122449 | TGFB1,TMEM91 | c.29C>T (p.Pro10Leu) c.-30+1814G>A (n.-30+1814G>A) n.350+1814G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41353016G>C | CA9460186 | TGFB1,TMEM91 | c.29C>G (p.Pro10Arg) c.-30+1814G>C (n.-30+1814G>C) n.350+1814G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |