| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.126424726C>T | CA6355624 | KIRREL3,ST3GAL4 | c.2191G>A (p.Val731Ile) c.2068G>A (p.Val690Ile) n.629+15315C>T c.2155G>A (p.Val719Ile) c.771+15315C>T (n.771+15315C>T) c.2284G>A (p.Val762Ile) c.2266G>A (p.Val756Ile) c.2209G>A (p.Val737Ile) c.2173G>A (p.Val725Ile) c.1624G>A (p.Val542Ile) c.2230G>A (p.Val744Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.126424726C>A | CA115830 | KIRREL3,ST3GAL4 | c.2191G>T (p.Val731Phe) c.2068G>T (p.Val690Phe) n.629+15315C>A c.2155G>T (p.Val719Phe) c.771+15315C>A (n.771+15315C>A) c.2284G>T (p.Val762Phe) c.2266G>T (p.Val756Phe) c.2209G>T (p.Val737Phe) c.2173G>T (p.Val725Phe) c.1624G>T (p.Val542Phe) c.2230G>T (p.Val744Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |