| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.33178143G>T | CA212599 | COL11A2 | c.445+165C>A c.1861C>A (p.Pro621Thr) c.1540C>A (p.Pro514Thr) c.1603C>A (p.Pro535Thr) c.1015C>A (p.Pro339Thr) c.1147C>A (p.Pro383Thr) c.967C>A (p.Pro323Thr) c.904C>A (p.Pro302Thr) c.748C>A (p.Pro250Thr) c.679C>A (p.Pro227Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.33178143G= | CA1619899919 | COL11A2 | c.445+165C= c.1861C= (p.Pro621=) c.1540C= (p.Pro514=) c.1603C= (p.Pro535=) c.1015C= (p.Pro339=) c.1147C= (p.Pro383=) c.967C= (p.Pro323=) c.904C= (p.Pro302=) c.748C= (p.Pro250=) c.679C= (p.Pro227=) | dbSNP |
| 6 | g.33178143G>C | CA363656287 | COL11A2 | c.445+165C>G c.1861C>G (p.Pro621Ala) c.1540C>G (p.Pro514Ala) c.1603C>G (p.Pro535Ala) c.1015C>G (p.Pro339Ala) c.1147C>G (p.Pro383Ala) c.967C>G (p.Pro323Ala) c.904C>G (p.Pro302Ala) c.748C>G (p.Pro250Ala) c.679C>G (p.Pro227Ala) | dbSNP |