| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.114403966A>G | CA136912 | WHRN | c.692T>C (p.Val231Ala) c.2348T>C (p.Val783Ala) c.1321T>C n.2229T>C c.1199T>C (p.Val400Ala) c.1295T>C (p.Val432Ala) c.2345T>C (p.Val782Ala) c.1685T>C (p.Val562Ala) c.2381T>C (p.Val794Ala) c.2378T>C (p.Val793Ala) c.2255T>C (p.Val752Ala) c.2138T>C (p.Val713Ala) c.1058T>C (p.Val353Ala) n.3285T>C n.3183T>C n.2596T>C n.2494T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.114403966A>T | CA374619709 | WHRN | c.692T>A (p.Val231Glu) c.2348T>A (p.Val783Glu) c.1321T>A n.2229T>A c.1199T>A (p.Val400Glu) c.1295T>A (p.Val432Glu) c.2345T>A (p.Val782Glu) c.1685T>A (p.Val562Glu) c.2381T>A (p.Val794Glu) c.2378T>A (p.Val793Glu) c.2255T>A (p.Val752Glu) c.2138T>A (p.Val713Glu) c.1058T>A (p.Val353Glu) n.3285T>A n.3183T>A n.2596T>A n.2494T>A | ClinVar dbSNP gnomAD v4 |