| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.86726250G>A | CA136580 | LDB3 | c.1903G>A (p.Ala635Thr) c.1951G>A (p.Ala651Thr) c.2092G>A (p.Ala698Thr) c.1762G>A (p.Ala588Thr) c.2107G>A (p.Ala703Thr) c.232G>A (p.Ala78Thr) c.2344G>A (p.Ala782Thr) c.2296G>A (p.Ala766Thr) c.2155G>A (p.Ala719Thr) c.2140G>A (p.Ala714Thr) c.1999G>A (p.Ala667Thr) c.1810G>A (p.Ala604Thr) c.1795G>A (p.Ala599Thr) c.1300G>A (p.Ala434Thr) c.1111G>A (p.Ala371Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.86726250G>T | CA308651 | LDB3 | c.1903G>T (p.Ala635Ser) c.1951G>T (p.Ala651Ser) c.2092G>T (p.Ala698Ser) c.1762G>T (p.Ala588Ser) c.2107G>T (p.Ala703Ser) c.232G>T (p.Ala78Ser) c.2344G>T (p.Ala782Ser) c.2296G>T (p.Ala766Ser) c.2155G>T (p.Ala719Ser) c.2140G>T (p.Ala714Ser) c.1999G>T (p.Ala667Ser) c.1810G>T (p.Ala604Ser) c.1795G>T (p.Ala599Ser) c.1300G>T (p.Ala434Ser) c.1111G>T (p.Ala371Ser) | ClinVar dbSNP gnomAD v4 |