Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.75087586C>A | CA364732603 | COL12A1 | c.9172G>T (p.Gly3058Cys) n.581G>T n.955G>T c.5680G>T (p.Gly1894Cys) c.8944G>T (p.Gly2982Cys) c.2086G>T (p.Gly696Cys) c.9160G>T (p.Gly3054Cys) c.5605G>T (p.Gly1869Cys) c.8899G>T (p.Gly2967Cys) c.9136G>T (p.Gly3046Cys) | dbSNP |
6 | g.75087586C>G | CA364732604 | COL12A1 | c.9172G>C (p.Gly3058Arg) n.581G>C n.955G>C c.5680G>C (p.Gly1894Arg) c.8944G>C (p.Gly2982Arg) c.2086G>C (p.Gly696Arg) c.9160G>C (p.Gly3054Arg) c.5605G>C (p.Gly1869Arg) c.8899G>C (p.Gly2967Arg) c.9136G>C (p.Gly3046Arg) | dbSNP gnomAD v4 |
6 | g.75087586C>T | CA3892007 | COL12A1 | c.9172G>A (p.Gly3058Ser) n.581G>A n.955G>A c.5680G>A (p.Gly1894Ser) c.8944G>A (p.Gly2982Ser) c.2086G>A (p.Gly696Ser) c.9160G>A (p.Gly3054Ser) c.5605G>A (p.Gly1869Ser) c.8899G>A (p.Gly2967Ser) c.9136G>A (p.Gly3046Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |