| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.76469731G>A | CA215123 | AANAT | c.385G>A (p.Ala129Thr) c.520G>A (p.Ala174Thr) c.*162G>A (n.*162G>A) n.696G>A c.592G>A (p.Ala198Thr) c.475G>A (p.Ala159Thr) c.499G>A (p.Ala167Thr) n.641G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469731G>C | CA401161195 | AANAT | c.385G>C (p.Ala129Pro) c.520G>C (p.Ala174Pro) c.*162G>C (n.*162G>C) n.696G>C c.592G>C (p.Ala198Pro) c.475G>C (p.Ala159Pro) c.499G>C (p.Ala167Pro) n.641G>C | dbSNP |
| 17 | g.76469731G= | CA2276011954 | AANAT | c.385G= (p.Ala129=) c.520G= (p.Ala174=) c.*162G= (n.*162G=) n.696G= c.592G= (p.Ala198=) c.475G= (p.Ala159=) c.499G= (p.Ala167=) n.641G= | dbSNP |
| 17 | g.76469731G>T | CA401161194 | AANAT | c.385G>T (p.Ala129Ser) c.520G>T (p.Ala174Ser) c.*162G>T (n.*162G>T) n.696G>T c.592G>T (p.Ala198Ser) c.475G>T (p.Ala159Ser) c.499G>T (p.Ala167Ser) n.641G>T | dbSNP gnomAD v4 |