| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 1 | g.200038307G>A | CA729976777 | NR5A2 | c.65-5467G>A (p.=) c.65-1351G>A (p.=) c.-56-1351G>A (p.=) c.-14-5467G>A (p.=) c.-522G>A (p.=) n.30-394G>A c.*419-5467G>A (p.=) | |
| 1 | g.200038313C>G | CA35913387 | NR5A2 | c.65-5461C>G (p.=) c.65-1345C>G (p.=) c.-56-1345C>G (p.=) c.-14-5461C>G (p.=) c.-516C>G (p.=) n.30-388C>G c.*419-5461C>G (p.=) | dbSNP |
| 1 | g.200038313C>T | CA35913388 | NR5A2 | c.65-5461C>T (p.=) c.65-1345C>T (p.=) c.-56-1345C>T (p.=) c.-14-5461C>T (p.=) c.-516C>T (p.=) n.30-388C>T c.*419-5461C>T (p.=) | dbSNP |
| 1 | g.200038317T>C | CA35913395 | NR5A2 | c.65-5457T>C (p.=) c.65-1341T>C (p.=) c.-56-1341T>C (p.=) c.-14-5457T>C (p.=) c.-512T>C (p.=) n.30-384T>C c.*419-5457T>C (p.=) | dbSNP gnomAD |
| 1 | g.200038318A>C | CA528296363 | NR5A2 | c.65-5456A>C (p.=) c.65-1340A>C (p.=) c.-56-1340A>C (p.=) c.-14-5456A>C (p.=) c.-511A>C (p.=) n.30-383A>C c.*419-5456A>C (p.=) | gnomAD |
| 1 | g.200038324T>C | CA1011142529 | NR5A2 | c.65-5450T>C (p.=) c.65-1334T>C (p.=) c.-56-1334T>C (p.=) c.-14-5450T>C (p.=) c.-505T>C (p.=) n.30-377T>C c.*419-5450T>C (p.=) | |
| 1 | g.200038327T>A | CA35913400 | NR5A2 | c.65-5447T>A (p.=) c.65-1331T>A (p.=) c.-56-1331T>A (p.=) c.-14-5447T>A (p.=) c.-502T>A (p.=) n.30-374T>A c.*419-5447T>A (p.=) | dbSNP |
| 1 | g.200038329G>A | CA646352637 | NR5A2 | c.65-5445G>A (p.=) c.65-1329G>A (p.=) c.-56-1329G>A (p.=) c.-14-5445G>A (p.=) c.-500G>A (p.=) n.30-372G>A c.*419-5445G>A (p.=) | COSMIC |
| 1 | g.200038330G>A | CA1011142534 | NR5A2 | c.65-5444G>A (p.=) c.65-1328G>A (p.=) c.-56-1328G>A (p.=) c.-14-5444G>A (p.=) c.-499G>A (p.=) n.30-371G>A c.*419-5444G>A (p.=) | |
| 1 | g.200038333C>T | CA528296364 | NR5A2 | c.65-5441C>T (p.=) c.65-1325C>T (p.=) c.-56-1325C>T (p.=) c.-14-5441C>T (p.=) c.-496C>T (p.=) n.30-368C>T c.*419-5441C>T (p.=) | gnomAD |
| 1 | g.200038338C>A | CA729976794 | NR5A2 | c.65-5436C>A (p.=) c.65-1320C>A (p.=) c.-56-1320C>A (p.=) c.-14-5436C>A (p.=) c.-491C>A (p.=) n.30-363C>A c.*419-5436C>A (p.=) | |
| 1 | g.200038338C>T | CA528296365 | NR5A2 | c.65-5436C>T (p.=) c.65-1320C>T (p.=) c.-56-1320C>T (p.=) c.-14-5436C>T (p.=) c.-491C>T (p.=) n.30-363C>T c.*419-5436C>T (p.=) | gnomAD |
| 1 | g.200038345C>G | CA729976815 | NR5A2 | c.65-5429C>G (p.=) c.65-1313C>G (p.=) c.-56-1313C>G (p.=) c.-14-5429C>G (p.=) c.-484C>G (p.=) n.30-356C>G c.*419-5429C>G (p.=) | |
| 1 | g.200038353A>C | CA729976818 | NR5A2 | c.65-5421A>C (p.=) c.65-1305A>C (p.=) c.-56-1305A>C (p.=) c.-14-5421A>C (p.=) c.-476A>C (p.=) n.30-348A>C c.*419-5421A>C (p.=) | |
| 1 | g.200038356G>A | CA729976821 | NR5A2 | c.65-5418G>A (p.=) c.65-1302G>A (p.=) c.-56-1302G>A (p.=) c.-14-5418G>A (p.=) c.-473G>A (p.=) n.30-345G>A c.*419-5418G>A (p.=) | |
| 1 | g.200038367_200038408del | CA528296366 | NR5A2 | c.65-5407_65-5366del (p.=) c.65-1291_65-1250del (p.=) c.-56-1291_-56-1250del (p.=) c.-14-5407_-14-5366del (p.=) c.-462_-421del (p.=) n.30-334_30-293del c.*419-5407_*419-5366del (p.=) | dbSNP gnomAD |
| 1 | g.200038369A>C | CA528296367 | NR5A2 | c.65-5405A>C (p.=) c.65-1289A>C (p.=) c.-56-1289A>C (p.=) c.-14-5405A>C (p.=) c.-460A>C (p.=) n.30-332A>C c.*419-5405A>C (p.=) | gnomAD |
| 1 | g.200038370G>T | CA528296368 | NR5A2 | c.65-5404G>T (p.=) c.65-1288G>T (p.=) c.-56-1288G>T (p.=) c.-14-5404G>T (p.=) c.-459G>T (p.=) n.30-331G>T c.*419-5404G>T (p.=) | gnomAD |
| 1 | g.200038375C>A | CA729976829 | NR5A2 | c.65-5399C>A (p.=) c.65-1283C>A (p.=) c.-56-1283C>A (p.=) c.-14-5399C>A (p.=) c.-454C>A (p.=) n.30-326C>A c.*419-5399C>A (p.=) | |
| 1 | g.200038376dup | CA729976832 | NR5A2 | c.65-5398dup (p.=) c.65-1282dup (p.=) c.-56-1282dup (p.=) c.-14-5398dup (p.=) c.-453dup (p.=) n.30-325dup c.*419-5398dup (p.=) | dbSNP |
| 1 | g.200038377G>T | CA35913407 | NR5A2 | c.65-5397G>T (p.=) c.65-1281G>T (p.=) c.-56-1281G>T (p.=) c.-14-5397G>T (p.=) c.-452G>T (p.=) n.30-324G>T c.*419-5397G>T (p.=) | dbSNP gnomAD |
| 1 | g.200038379C>T | CA35913431 | NR5A2 | c.65-5395C>T (p.=) c.65-1279C>T (p.=) c.-56-1279C>T (p.=) c.-14-5395C>T (p.=) c.-450C>T (p.=) n.30-322C>T c.*419-5395C>T (p.=) | dbSNP gnomAD |
| 1 | g.200038383G>A | CA35913438 | NR5A2 | c.65-5391G>A (p.=) c.65-1275G>A (p.=) c.-56-1275G>A (p.=) c.-14-5391G>A (p.=) c.-446G>A (p.=) n.30-318G>A c.*419-5391G>A (p.=) | dbSNP |
| 1 | g.200038384G>A | CA35913440 | NR5A2 | c.65-5390G>A (p.=) c.65-1274G>A (p.=) c.-56-1274G>A (p.=) c.-14-5390G>A (p.=) c.-445G>A (p.=) n.30-317G>A c.*419-5390G>A (p.=) | dbSNP |
| 1 | g.200038385A>G | CA1011142543 | NR5A2 | c.65-5389A>G (p.=) c.65-1273A>G (p.=) c.-56-1273A>G (p.=) c.-14-5389A>G (p.=) c.-444A>G (p.=) n.30-316A>G c.*419-5389A>G (p.=) | |
| 1 | g.200038388G>C | CA528296369 | NR5A2 | c.65-5386G>C (p.=) c.65-1270G>C (p.=) c.-56-1270G>C (p.=) c.-14-5386G>C (p.=) c.-441G>C (p.=) n.30-313G>C c.*419-5386G>C (p.=) | gnomAD |
| 1 | g.200038390G>A | CA528296370 | NR5A2 | c.65-5384G>A (p.=) c.65-1268G>A (p.=) c.-56-1268G>A (p.=) c.-14-5384G>A (p.=) c.-439G>A (p.=) n.30-311G>A c.*419-5384G>A (p.=) | gnomAD |
| 1 | g.200038391G>A | CA35913474 | NR5A2 | c.65-5383G>A (p.=) c.65-1267G>A (p.=) c.-56-1267G>A (p.=) c.-14-5383G>A (p.=) c.-438G>A (p.=) n.30-310G>A c.*419-5383G>A (p.=) | dbSNP gnomAD |
| 1 | g.200038399G>A | CA35913477 | NR5A2 | c.65-5375G>A (p.=) c.65-1259G>A (p.=) c.-56-1259G>A (p.=) c.-14-5375G>A (p.=) c.-430G>A (p.=) n.30-302G>A c.*419-5375G>A (p.=) | dbSNP |
| 1 | g.200038401C>T | CA1011142551 | NR5A2 | c.65-5373C>T (p.=) c.65-1257C>T (p.=) c.-56-1257C>T (p.=) c.-14-5373C>T (p.=) c.-428C>T (p.=) n.30-300C>T c.*419-5373C>T (p.=) |