| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.158167219A>T | CA370172667 | PTPRN2 | c.622T>A (p.Ser208Thr) c.571T>A (p.Ser191Thr) c.349T>A (p.Ser117Thr) c.508T>A (p.Ser170Thr) c.691T>A (p.Ser231Thr) c.424T>A (p.Ser142Thr) | dbSNP gnomAD v4 |
| 7 | g.158167219A>G | CA4591875 | PTPRN2 | c.622T>C (p.Ser208Pro) c.571T>C (p.Ser191Pro) c.349T>C (p.Ser117Pro) c.508T>C (p.Ser170Pro) c.691T>C (p.Ser231Pro) c.424T>C (p.Ser142Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.158167219A= | CA1755945076 | PTPRN2 | c.622T= (p.Ser208=) c.571T= (p.Ser191=) c.349T= (p.Ser117=) c.508T= (p.Ser170=) c.691T= (p.Ser231=) c.424T= (p.Ser142=) | dbSNP |