Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.77901178T>G | CA253048132 | EDNRB,EDNRB-AS1 | c.831A>C (p.Leu277=) c.309A>C (p.Leu103=) c.1101A>C (p.Leu367=) n.1695-6514T>G | dbSNP gnomAD v4 |
13 | g.77901178T>C | CA7012233 | EDNRB,EDNRB-AS1 | c.831A>G (p.Leu277=) c.309A>G (p.Leu103=) c.1101A>G (p.Leu367=) n.1695-6514T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |