| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.119345569G>T | CA6320535 | C1QTNF5,MFRP | c.492C>A (p.Tyr164Ter) n.455C>A c.*83C>A (n.*83C>A) c.-2145C>A (n.-2145C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.119345569G>C | CA382978386 | C1QTNF5,MFRP | c.492C>G (p.Tyr164Ter) n.455C>G c.*83C>G (n.*83C>G) c.-2145C>G (n.-2145C>G) | dbSNP gnomAD v4 |
| 11 | g.119345569G>A | CA017235 | C1QTNF5,MFRP | c.492C>T (p.Tyr164=) n.455C>T c.*83C>T (n.*83C>T) c.-2145C>T (n.-2145C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |