Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.37739503_37739577del | CA913190793 | HNF1B | c.410_484del (p.Arg137_Lys161del) | ClinVar |
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) | |
17 | g.37739513del | CA913190795 | HNF1B | c.471del (p.Thr158ProfsTer3) | ClinVar |
17 | g.37739513G>A | CA499603910 | HNF1B | c.471C>T (p.Gly157=) | |
17 | g.37739513G>C | CA499603911 | HNF1B | c.471C>G (p.Gly157=) | |
17 | g.37739513G>T | CA499603909 | HNF1B | c.471C>A (p.Gly157=) | dbSNP gnomAD v4 |
17 | g.37739514C>A | CA398751329 | HNF1B | c.470G>T (p.Gly157Val) | |
17 | g.37739514C>G | CA398751330 | HNF1B | c.470G>C (p.Gly157Ala) | |
17 | g.37739514C>T | CA398751331 | HNF1B | c.470G>A (p.Gly157Asp) | |
17 | g.37739515C>A | CA398751335 | HNF1B | c.469G>T (p.Gly157Cys) | |
17 | g.37739515C>G | CA398751337 | HNF1B | c.469G>C (p.Gly157Arg) | |
17 | g.37739515C>T | CA398751333 | HNF1B | c.469G>A (p.Gly157Ser) | |
17 | g.37739516C>A | CA398751338 | HNF1B | c.468G>T (p.Lys156Asn) | |
17 | g.37739516C>G | CA398751339 | HNF1B | c.468G>C (p.Lys156Asn) | |
17 | g.37739516C>T | CA499603917 | HNF1B | c.468G>A (p.Lys156=) | gnomAD v4 |
17 | g.37739517T>A | CA398751342 | HNF1B | c.467A>T (p.Lys156Met) | |
17 | g.37739517T>C | CA398751344 | HNF1B | c.467A>G (p.Lys156Arg) | |
17 | g.37739517T>G | CA398751345 | HNF1B | c.467A>C (p.Lys156Thr) | |
17 | g.37739518T>A | CA398751349 | HNF1B | c.466A>T (p.Lys156Ter) | |
17 | g.37739518T>C | CA398751347 | HNF1B | c.466A>G (p.Lys156Glu) | ClinVar |
17 | g.37739518T>G | CA398751348 | HNF1B | c.466A>C (p.Lys156Gln) | |
17 | g.37739519G>A | CA499603923 | HNF1B | c.465C>T (p.Asn155=) | |
17 | g.37739519G>C | CA398751351 | HNF1B | c.465C>G (p.Asn155Lys) | |
17 | g.37739519G>T | CA398751352 | HNF1B | c.465C>A (p.Asn155Lys) | |
17 | g.37739520T>A | CA398751353 | HNF1B | c.464A>T (p.Asn155Ile) | |
17 | g.37739520T>C | CA398751355 | HNF1B | c.464A>G (p.Asn155Ser) | |
17 | g.37739520T>G | CA398751356 | HNF1B | c.464A>C (p.Asn155Thr) | |
17 | g.37739521T>A | CA398751358 | HNF1B | c.463A>T (p.Asn155Tyr) | |
17 | g.37739521T>C | CA398751360 | HNF1B | c.463A>G (p.Asn155Asp) | |
17 | g.37739521T>G | CA398751359 | HNF1B | c.463A>C (p.Asn155His) | dbSNP gnomAD v4 |
17 | g.37739522G>A | CA499603924 | HNF1B | c.462C>T (p.Leu154=) | dbSNP gnomAD v3 gnomAD v4 |