Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.74524043A>G | CA13943117 | LTBP2 | c.2530+1081T>C (n.2530+1081T>C) c.2149+1081T>C (n.2149+1081T>C) c.2071+1081T>C (n.2071+1081T>C) c.2047+1081T>C (n.2047+1081T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.74524043A>T | CA2147084255 | LTBP2 | c.2530+1081T>A (n.2530+1081T>A) c.2149+1081T>A (n.2149+1081T>A) c.2071+1081T>A (n.2071+1081T>A) c.2047+1081T>A (n.2047+1081T>A) | dbSNP |