| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.108623488T>C | CA6769239 | SELPLG | c.820A>G (p.Met274Val) c.868A>G (p.Met290Val) c.790A>G (p.Met264Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.108623488T>A | CA386427901 | SELPLG | c.820A>T (p.Met274Leu) c.868A>T (p.Met290Leu) c.790A>T (p.Met264Leu) | dbSNP gnomAD v4 |
| 12 | g.108623488T= | CA2062041472 | SELPLG | c.820A= (p.Met274=) c.868A= (p.Met290=) c.790A= (p.Met264=) | dbSNP |