| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.16154776C>G | CA278676822 | ABCC6 | n.923G>C c.*232G>C (n.*232G>C) c.4060G>C (p.Gly1354Arg) c.874G>C (p.Gly292Arg) c.3685G>C (n.3685G>C) c.*1269G>C (n.*1269G>C) c.4027G>C (p.Gly1343Arg) c.3718G>C (p.Gly1240Arg) n.539-5005C>G n.3722G>C c.3892G>C (p.Gly1298Arg) c.4096G>C (p.Gly1366Arg) | ClinVar dbSNP gnomAD v4 |
| 16 | g.16154776C>T | CA394884796 | ABCC6 | n.923G>A c.*232G>A (n.*232G>A) c.4060G>A (p.Gly1354Ser) c.874G>A (p.Gly292Ser) c.3685G>A (n.3685G>A) c.*1269G>A (n.*1269G>A) c.4027G>A (p.Gly1343Ser) c.3718G>A (p.Gly1240Ser) n.539-5005C>T n.3722G>A c.3892G>A (p.Gly1298Ser) c.4096G>A (p.Gly1366Ser) | ClinVar dbSNP |
| 16 | g.16154776C= | CA2210140633 | ABCC6 | n.923G= c.*232G= (n.*232G=) c.4060G= (p.Gly1354=) c.874G= (p.Gly292=) c.3685G= (n.3685G=) c.*1269G= (n.*1269G=) c.4027G= (p.Gly1343=) c.3718G= (p.Gly1240=) n.539-5005C= n.3722G= c.3892G= (p.Gly1298=) c.4096G= (p.Gly1366=) | dbSNP |