| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.70741007T>G | CA377106209 | ADAMTS14 | c.1769T>G (p.Leu590Arg) c.1778T>G (p.Leu593Arg) c.842T>G (p.Leu281Arg) c.338T>G (p.Leu113Arg) n.2063T>G | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.70741007T>A | CA377106208 | ADAMTS14 | c.1769T>A (p.Leu590Gln) c.1778T>A (p.Leu593Gln) c.842T>A (p.Leu281Gln) c.338T>A (p.Leu113Gln) n.2063T>A | dbSNP gnomAD v4 |
| 10 | g.70741007T>C | CA5539794 | ADAMTS14 | c.1769T>C (p.Leu590Pro) c.1778T>C (p.Leu593Pro) c.842T>C (p.Leu281Pro) c.338T>C (p.Leu113Pro) n.2063T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |