| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.114403926G>C | CA5205652 | WHRN | c.732C>G (p.Asn244Lys) c.2388C>G (p.Asn796Lys) c.1361C>G n.2269C>G c.1239C>G (p.Asn413Lys) c.1335C>G (p.Asn445Lys) c.2385C>G (p.Asn795Lys) c.1725C>G (p.Asn575Lys) c.2421C>G (p.Asn807Lys) c.2418C>G (p.Asn806Lys) c.2295C>G (p.Asn765Lys) c.2178C>G (p.Asn726Lys) c.1098C>G (p.Asn366Lys) n.3325C>G n.3223C>G n.2636C>G n.2534C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.114403926G>A | CA198649102 | WHRN | c.732C>T (p.Asn244=) c.2388C>T (p.Asn796=) c.1361C>T n.2269C>T c.1239C>T (p.Asn413=) c.1335C>T (p.Asn445=) c.2385C>T (p.Asn795=) c.1725C>T (p.Asn575=) c.2421C>T (p.Asn807=) c.2418C>T (p.Asn806=) c.2295C>T (p.Asn765=) c.2178C>T (p.Asn726=) c.1098C>T (p.Asn366=) n.3325C>T n.3223C>T n.2636C>T n.2534C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.114403926G>T | CA136916 | WHRN | c.732C>A (p.Asn244Lys) c.2388C>A (p.Asn796Lys) c.1361C>A n.2269C>A c.1239C>A (p.Asn413Lys) c.1335C>A (p.Asn445Lys) c.2385C>A (p.Asn795Lys) c.1725C>A (p.Asn575Lys) c.2421C>A (p.Asn807Lys) c.2418C>A (p.Asn806Lys) c.2295C>A (p.Asn765Lys) c.2178C>A (p.Asn726Lys) c.1098C>A (p.Asn366Lys) n.3325C>A n.3223C>A n.2636C>A n.2534C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |