Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.37739499del | CA913190791 | HNF1B | c.487del (p.Gln163ArgfsTer?) | ClinVar |
17 | g.37739498G>A | CA499603887 | HNF1B | c.486C>T (p.Thr162=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.37739498G>C | CA499603888 | HNF1B | c.486C>G (p.Thr162=) | |
17 | g.37739498G>T | CA499603889 | HNF1B | c.486C>A (p.Thr162=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.37739499G>A | CA398751274 | HNF1B | c.485C>T (p.Thr162Ile) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.37739499G>C | CA398751275 | HNF1B | c.485C>G (p.Thr162Ser) | |
17 | g.37739499G>T | CA398751276 | HNF1B | c.485C>A (p.Thr162Asn) | |
17 | g.37739500del | CA913190792 | HNF1B | c.484del (p.Thr162ProfsTer?) | ClinVar |
17 | g.37739500T>A | CA398751282 | HNF1B | c.484A>T (p.Thr162Ser) | |
17 | g.37739500T>C | CA398751280 | HNF1B | c.484A>G (p.Thr162Ala) | |
17 | g.37739500T>G | CA398751279 | HNF1B | c.484A>C (p.Thr162Pro) | |
17 | g.37739503_37739577del | CA913190793 | HNF1B | c.410_484del (p.Arg137_Lys161del) | ClinVar |
17 | g.37739501C>A | CA398751283 | HNF1B | c.483G>T (p.Lys161Asn) | |
17 | g.37739501C>G | CA398751286 | HNF1B | c.483G>C (p.Lys161Asn) | |
17 | g.37739501C>T | CA8519073 | HNF1B | c.483G>A (p.Lys161=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.37739502T>A | CA398751288 | HNF1B | c.482A>T (p.Lys161Met) | |
17 | g.37739502T>C | CA290288642 | HNF1B | c.482A>G (p.Lys161Arg) | dbSNP |
17 | g.37739502T>G | CA398751289 | HNF1B | c.482A>C (p.Lys161Thr) | |
17 | g.37739503T>A | CA398751292 | HNF1B | c.481A>T (p.Lys161Ter) | ClinVar dbSNP |
17 | g.37739503T>C | CA398751294 | HNF1B | c.481A>G (p.Lys161Glu) | |
17 | g.37739503T>G | CA398751293 | HNF1B | c.481A>C (p.Lys161Gln) | |
17 | g.37739504C>A | CA398751296 | HNF1B | c.480G>T (p.Met160Ile) | |
17 | g.37739504C>G | CA398751300 | HNF1B | c.480G>C (p.Met160Ile) | |
17 | g.37739504C>T | CA398751298 | HNF1B | c.480G>A (p.Met160Ile) | ClinVar |
17 | g.37739505A>C | CA10606095 | HNF1B | c.479T>G (p.Met160Arg) | ClinVar dbSNP |
17 | g.37739505A>G | CA398751302 | HNF1B | c.479T>C (p.Met160Thr) | ClinVar |
17 | g.37739505A>T | CA398751303 | HNF1B | c.479T>A (p.Met160Lys) | |
17 | g.37739506T>A | CA398751305 | HNF1B | c.478A>T (p.Met160Leu) | |
17 | g.37739506T>C | CA398751307 | HNF1B | c.478A>G (p.Met160Val) | ClinVar |
17 | g.37739506T>G | CA398751308 | HNF1B | c.478A>C (p.Met160Leu) | |
17 | g.37739507del | CA214360 | HNF1B | c.477del (p.Met160Ter) | ClinVar dbSNP |
17 | g.37739507A>C | CA499603899 | HNF1B | c.477T>G (p.Pro159=) | |
17 | g.37739507A>G | CA499603900 | HNF1B | c.477T>C (p.Pro159=) | ClinVar dbSNP |
17 | g.37739507A>T | CA499603902 | HNF1B | c.477T>A (p.Pro159=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.37739508G>A | CA398751311 | HNF1B | c.476C>T (p.Pro159Leu) | ClinVar gnomAD v4 |
17 | g.37739508G>C | CA398751312 | HNF1B | c.476C>G (p.Pro159Arg) | |
17 | g.37739508G>T | CA398751314 | HNF1B | c.476C>A (p.Pro159His) | |
17 | g.37739509G>A | CA398751319 | HNF1B | c.475C>T (p.Pro159Ser) | ClinVar |
17 | g.37739509G>C | CA398751316 | HNF1B | c.475C>G (p.Pro159Ala) | |
17 | g.37739509G>T | CA398751317 | HNF1B | c.475C>A (p.Pro159Thr) | |
17 | g.37739510G>A | CA499603904 | HNF1B | c.474C>T (p.Thr158=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.37739510G>C | CA499603905 | HNF1B | c.474C>G (p.Thr158=) | |
17 | g.37739510G>T | CA499603906 | HNF1B | c.474C>A (p.Thr158=) | |
17 | g.37739511G>A | CA398751320 | HNF1B | c.473C>T (p.Thr158Ile) | ClinVar dbSNP |
17 | g.37739511G>C | CA398751322 | HNF1B | c.473C>G (p.Thr158Ser) | |
17 | g.37739511G>T | CA398751323 | HNF1B | c.473C>A (p.Thr158Asn) | ClinVar dbSNP |
17 | g.37739511_37739512insGGGCTGCA | CA913190794 | HNF1B | c.472_473insTGCAGCCC (p.Thr158MetfsTer6) | ClinVar |
17 | g.37739512T>A | CA398751324 | HNF1B | c.472A>T (p.Thr158Ser) | |
17 | g.37739512T>C | CA398751325 | HNF1B | c.472A>G (p.Thr158Ala) | |
17 | g.37739512T>G | CA398751327 | HNF1B | c.472A>C (p.Thr158Pro) |