| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.37744735_37744749del | CA2567235878 | HNF1B | c.136_150del (p.Leu46_Pro50del) | |
| 17 | g.37744741C>A | CA499880040 | HNF1B | c.144G>T (p.Leu48=) | |
| 17 | g.37744741C>G | CA499880041 | HNF1B | c.144G>C (p.Leu48=) | |
| 17 | g.37744741C>T | CA499880042 | HNF1B | c.144G>A (p.Leu48=) | |
| 17 | g.37744742del | CA913190806 | HNF1B | c.143del (p.Leu48ArgfsTer?) | ClinVar |
| 17 | g.37744742A>C | CA398754283 | HNF1B | c.143T>G (p.Leu48Arg) | |
| 17 | g.37744742A>G | CA290293214 | HNF1B | c.143T>C (p.Leu48Pro) | dbSNP gnomAD v4 |
| 17 | g.37744742A>T | CA398754284 | HNF1B | c.143T>A (p.Leu48Gln) | |
| 17 | g.37744742_37744743del | CA2573332395 | HNF1B | c.142_143del (p.Leu48ValfsTer?) | |
| 17 | g.37744743G>A | CA499880046 | HNF1B | c.142C>T (p.Leu48=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.37744743G>C | CA398754287 | HNF1B | c.142C>G (p.Leu48Val) | gnomAD v4 |
| 17 | g.37744743G>T | CA398754286 | HNF1B | c.142C>A (p.Leu48Met) | |
| 17 | g.37744744G>A | CA499880047 | HNF1B | c.141C>T (p.Pro47=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.37744744G>C | CA499880048 | HNF1B | c.141C>G (p.Pro47=) | |
| 17 | g.37744744G>T | CA499880050 | HNF1B | c.141C>A (p.Pro47=) | |
| 17 | g.37744745G>A | CA214348 | HNF1B | c.140C>T (p.Pro47Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.37744745G>C | CA398754294 | HNF1B | c.140C>G (p.Pro47Arg) | |
| 17 | g.37744745G>T | CA398754288 | HNF1B | c.140C>A (p.Pro47His) | gnomAD v4 |
| 17 | g.37744746G>A | CA8519150 | HNF1B | c.139C>T (p.Pro47Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.37744746G>C | CA398754295 | HNF1B | c.139C>G (p.Pro47Ala) | |
| 17 | g.37744746G>T | CA8519149 | HNF1B | c.139C>A (p.Pro47Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.37744747C>A | CA499880051 | HNF1B | c.138G>T (p.Leu46=) | |
| 17 | g.37744747C>G | CA499880053 | HNF1B | c.138G>C (p.Leu46=) | |
| 17 | g.37744747C>T | CA499880054 | HNF1B | c.138G>A (p.Leu46=) | gnomAD v4 |
| 17 | g.37744748A>C | CA398754297 | HNF1B | c.137T>G (p.Leu46Arg) | dbSNP |
| 17 | g.37744748A>G | CA398754299 | HNF1B | c.137T>C (p.Leu46Pro) | |
| 17 | g.37744748A>T | CA398754300 | HNF1B | c.137T>A (p.Leu46Gln) | |
| 17 | g.37744749G>A | CA499880055 | HNF1B | c.136C>T (p.Leu46=) | |
| 17 | g.37744749G>C | CA398754302 | HNF1B | c.136C>G (p.Leu46Val) | |
| 17 | g.37744749G>T | CA398754305 | HNF1B | c.136C>A (p.Leu46Met) | |
| 17 | g.37744750C>A | CA499880058 | HNF1B | c.135G>T (p.Thr45=) | gnomAD v4 |
| 17 | g.37744750C>G | CA499880057 | HNF1B | c.135G>C (p.Thr45=) | |
| 17 | g.37744750C>T | CA499880056 | HNF1B | c.135G>A (p.Thr45=) | ClinVar dbSNP |
| 17 | g.37744750_37744751insCT | CA2559753703 | HNF1B | c.134_135insAG (p.Leu46GlyfsTer?) | |
| 17 | g.37744751G>A | CA8519151 | HNF1B | c.134C>T (p.Thr45Met) | dbSNP ExAC gnomAD v4 |
| 17 | g.37744751G>C | CA398754311 | HNF1B | c.134C>G (p.Thr45Arg) | |
| 17 | g.37744751G>T | CA398754316 | HNF1B | c.134C>A (p.Thr45Lys) | |
| 17 | g.37744752T>A | CA398754325 | HNF1B | c.133A>T (p.Thr45Ser) | |
| 17 | g.37744752T>C | CA398754322 | HNF1B | c.133A>G (p.Thr45Ala) | gnomAD v4 |
| 17 | g.37744752T>G | CA398754318 | HNF1B | c.133A>C (p.Thr45Pro) | |
| 17 | g.37744753C>A | CA398754330 | HNF1B | c.132G>T (p.Glu44Asp) | |
| 17 | g.37744753C>G | CA398754332 | HNF1B | c.132G>C (p.Glu44Asp) | |
| 17 | g.37744753C>T | CA499880060 | HNF1B | c.132G>A (p.Glu44=) | gnomAD v4 |
| 17 | g.37744754T>A | CA398754335 | HNF1B | c.131A>T (p.Glu44Val) | |
| 17 | g.37744754T>C | CA398754339 | HNF1B | c.131A>G (p.Glu44Gly) | |
| 17 | g.37744754T>G | CA398754345 | HNF1B | c.131A>C (p.Glu44Ala) | |
| 17 | g.37744755C>A | CA398754348 | HNF1B | c.130G>T (p.Glu44Ter) | |
| 17 | g.37744755C>G | CA398754349 | HNF1B | c.130G>C (p.Glu44Gln) | ClinVar |
| 17 | g.37744755C>T | CA398754352 | HNF1B | c.130G>A (p.Glu44Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.37744756C>A | CA499880062 | HNF1B | c.129G>T (p.Leu43=) |