| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47974090G>T | CA6534505 | COL2A1 | c.4109C>A (p.Thr1370Lys) c.4316C>A (p.Thr1439Lys) n.3402C>A c.4460C>A (p.Thr1487Lys) c.4457C>A (p.Thr1486Lys) c.3404C>A (p.Thr1135Lys) c.4250C>A (p.Thr1417Lys) c.3770C>A (p.Thr1257Lys) | dbSNP ExAC gnomAD v4 |
| 12 | g.47974090G>A | CA204551 | COL2A1 | c.4109C>T (p.Thr1370Met) c.4316C>T (p.Thr1439Met) n.3402C>T c.4460C>T (p.Thr1487Met) c.4457C>T (p.Thr1486Met) c.3404C>T (p.Thr1135Met) c.4250C>T (p.Thr1417Met) c.3770C>T (p.Thr1257Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.47974090G>C | CA384533391 | COL2A1 | c.4109C>G (p.Thr1370Arg) c.4316C>G (p.Thr1439Arg) n.3402C>G c.4460C>G (p.Thr1487Arg) c.4457C>G (p.Thr1486Arg) c.3404C>G (p.Thr1135Arg) c.4250C>G (p.Thr1417Arg) c.3770C>G (p.Thr1257Arg) | dbSNP |
| 12 | g.47974090G= | CA2034471480 | COL2A1 | c.4109C= (p.Thr1370=) c.4316C= (p.Thr1439=) n.3402C= c.4460C= (p.Thr1487=) c.4457C= (p.Thr1486=) c.3404C= (p.Thr1135=) c.4250C= (p.Thr1417=) c.3770C= (p.Thr1257=) | dbSNP |