| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.200038204C>T | CA35913365 | NR5A2 | c.65-5570C>T (p.=) c.65-1454C>T (p.=) c.-56-1454C>T (p.=) c.-14-5570C>T (p.=) c.-625C>T (p.=) n.30-497C>T c.*419-5570C>T (p.=) | dbSNP gnomAD |
| 1 | g.200038207G>A | CA35913366 | NR5A2 | c.65-5567G>A (p.=) c.65-1451G>A (p.=) c.-56-1451G>A (p.=) c.-14-5567G>A (p.=) c.-622G>A (p.=) n.30-494G>A c.*419-5567G>A (p.=) | dbSNP |
| 1 | g.200038207G>T | CA1011142494 | NR5A2 | c.65-5567G>T (p.=) c.65-1451G>T (p.=) c.-56-1451G>T (p.=) c.-14-5567G>T (p.=) c.-622G>T (p.=) n.30-494G>T c.*419-5567G>T (p.=) | |
| 1 | g.200038213A>G | CA528296360 | NR5A2 | c.65-5561A>G (p.=) c.65-1445A>G (p.=) c.-56-1445A>G (p.=) c.-14-5561A>G (p.=) c.-616A>G (p.=) n.30-488A>G c.*419-5561A>G (p.=) | gnomAD |
| 1 | g.200038215G>T | CA729976739 | NR5A2 | c.65-5559G>T (p.=) c.65-1443G>T (p.=) c.-56-1443G>T (p.=) c.-14-5559G>T (p.=) c.-614G>T (p.=) n.30-486G>T c.*419-5559G>T (p.=) | |
| 1 | g.200038251C>A | CA16076261 | NR5A2 | c.65-5523C>A (p.=) c.65-1407C>A (p.=) c.-56-1407C>A (p.=) c.-14-5523C>A (p.=) c.-578C>A (p.=) n.30-450C>A c.*419-5523C>A (p.=) | dbSNP gnomAD |
| 1 | g.200038251C>T | CA729976744 | NR5A2 | c.65-5523C>T (p.=) c.65-1407C>T (p.=) c.-56-1407C>T (p.=) c.-14-5523C>T (p.=) c.-578C>T (p.=) n.30-450C>T c.*419-5523C>T (p.=) | |
| 1 | g.200038254C>T | CA729976747 | NR5A2 | c.65-5520C>T (p.=) c.65-1404C>T (p.=) c.-56-1404C>T (p.=) c.-14-5520C>T (p.=) c.-575C>T (p.=) n.30-447C>T c.*419-5520C>T (p.=) | |
| 1 | g.200038256T>C | CA35913374 | NR5A2 | c.65-5518T>C (p.=) c.65-1402T>C (p.=) c.-56-1402T>C (p.=) c.-14-5518T>C (p.=) c.-573T>C (p.=) n.30-445T>C c.*419-5518T>C (p.=) | dbSNP gnomAD |
| 1 | g.200038263A>C | CA528296361 | NR5A2 | c.65-5511A>C (p.=) c.65-1395A>C (p.=) c.-56-1395A>C (p.=) c.-14-5511A>C (p.=) c.-566A>C (p.=) n.30-438A>C c.*419-5511A>C (p.=) | gnomAD |
| 1 | g.200038266C>T | CA35913380 | NR5A2 | c.65-5508C>T (p.=) c.65-1392C>T (p.=) c.-56-1392C>T (p.=) c.-14-5508C>T (p.=) c.-563C>T (p.=) n.30-435C>T c.*419-5508C>T (p.=) | dbSNP |
| 1 | g.200038271A>G | CA35913386 | NR5A2 | c.65-5503A>G (p.=) c.65-1387A>G (p.=) c.-56-1387A>G (p.=) c.-14-5503A>G (p.=) c.-558A>G (p.=) n.30-430A>G c.*419-5503A>G (p.=) | dbSNP gnomAD |
| 1 | g.200038273T>C | CA729976754 | NR5A2 | c.65-5501T>C (p.=) c.65-1385T>C (p.=) c.-56-1385T>C (p.=) c.-14-5501T>C (p.=) c.-556T>C (p.=) n.30-428T>C c.*419-5501T>C (p.=) | |
| 1 | g.200038282A>G | CA1011142509 | NR5A2 | c.65-5492A>G (p.=) c.65-1376A>G (p.=) c.-56-1376A>G (p.=) c.-14-5492A>G (p.=) c.-547A>G (p.=) n.30-419A>G c.*419-5492A>G (p.=) | |
| 1 | g.200038284_200038285del | CA528296362 | NR5A2 | c.65-5490_65-5489del (p.=) c.65-1374_65-1373del (p.=) c.-56-1374_-56-1373del (p.=) c.-14-5490_-14-5489del (p.=) c.-545_-544del (p.=) n.30-417_30-416del c.*419-5490_*419-5489del (p.=) | dbSNP gnomAD |
| 1 | g.200038285del | CA729976757 | NR5A2 | c.65-5489del (p.=) c.65-1373del (p.=) c.-56-1373del (p.=) c.-14-5489del (p.=) c.-544del (p.=) n.30-416del c.*419-5489del (p.=) | dbSNP |
| 1 | g.200038289_200038298dup | CA729976759 | NR5A2 | c.65-5485_65-5476dup (p.=) c.65-1369_65-1360dup (p.=) c.-56-1369_-56-1360dup (p.=) c.-14-5485_-14-5476dup (p.=) c.-540_-531dup (p.=) n.30-412_30-403dup c.*419-5485_*419-5476dup (p.=) | dbSNP |
| 1 | g.200038294C>T | CA729976768 | NR5A2 | c.65-5480C>T (p.=) c.65-1364C>T (p.=) c.-56-1364C>T (p.=) c.-14-5480C>T (p.=) c.-535C>T (p.=) n.30-407C>T c.*419-5480C>T (p.=) | |
| 1 | g.200038299A>T | CA1011142517 | NR5A2 | c.65-5475A>T (p.=) c.65-1359A>T (p.=) c.-56-1359A>T (p.=) c.-14-5475A>T (p.=) c.-530A>T (p.=) n.30-402A>T c.*419-5475A>T (p.=) | |
| 1 | g.200038304A>C | CA729976769 | NR5A2 | c.65-5470A>C (p.=) c.65-1354A>C (p.=) c.-56-1354A>C (p.=) c.-14-5470A>C (p.=) c.-525A>C (p.=) n.30-397A>C c.*419-5470A>C (p.=) | |
| 1 | g.200038304A>G | CA10889062 | NR5A2 | c.65-5470A>G (p.=) c.65-1354A>G (p.=) c.-56-1354A>G (p.=) c.-14-5470A>G (p.=) c.-525A>G (p.=) n.30-397A>G c.*419-5470A>G (p.=) | dbSNP gnomAD |