Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.6770235T>C | CA408260254 | BMP2 | c.109T>C (p.Ser37Pro) c.-123+1360T>C (n.-123+1360T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.6770235T>G | CA201590 | BMP2 | c.109T>G (p.Ser37Ala) c.-123+1360T>G (n.-123+1360T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.6770235T= | CA2348108608 | BMP2 | c.109T= (p.Ser37=) c.-123+1360T= (n.-123+1360T=) | dbSNP |