Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.173555G>C | CA276415462 | HBA2 | c.384G>C (p.Lys128Asn) c.288G>C (p.Lys96Asn) n.520G>C | dbSNP gnomAD v4 |
16 | g.173555G>T | CA276415464 | HBA2 | c.384G>T (p.Lys128Asn) c.288G>T (p.Lys96Asn) n.520G>T | dbSNP |
16 | g.173555G= | CA2200880954 | HBA2 | c.384G= (p.Lys128=) c.288G= (p.Lys96=) n.520G= | dbSNP |