| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.18785063C>T | CA343856 | COMP | c.1747G>A (p.Glu583Lys) c.1588G>A (p.Glu530Lys) c.1648G>A (p.Glu550Lys) | ClinVar dbSNP |
| 19 | g.18785063C>G | CA306253731 | COMP | c.1747G>C (p.Glu583Gln) c.1588G>C (p.Glu530Gln) c.1648G>C (p.Glu550Gln) | dbSNP gnomAD v4 COSMIC |
| 19 | g.18785063C= | CA2326524940 | COMP | c.1747G= (p.Glu583=) c.1588G= (p.Glu530=) c.1648G= (p.Glu550=) | dbSNP |