Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.1232897G>C | CA144534 | B3GALT6 | c.619G>C (p.Asp207His) | ClinVar dbSNP gnomAD v4 |
1 | g.1232897G>A | CA337827850 | B3GALT6 | c.619G>A (p.Asp207Asn) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.1232897G= | CA1144228643 | B3GALT6 | c.619G= (p.Asp207=) | dbSNP |
1 | g.1232897G>T | CA337827854 | B3GALT6 | c.619G>T (p.Asp207Tyr) | dbSNP gnomAD v4 |