| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.37739427_37739445del | CA2695225790 | HNF1B | c.542_544+16del | |
| 17 | g.37739443G>A | CA16043028 | HNF1B | c.541C>T (p.Arg181Ter) | ClinVar dbSNP |
| 17 | g.37739443G>C | CA398751020 | HNF1B | c.541C>G (p.Arg181Gly) | |
| 17 | g.37739443G>T | CA499603842 | HNF1B | c.541C>A (p.Arg181=) | |
| 17 | g.37739444G>A | CA499603843 | HNF1B | c.540C>T (p.Leu180=) | |
| 17 | g.37739444G>C | CA499603844 | HNF1B | c.540C>G (p.Leu180=) | |
| 17 | g.37739444G>T | CA499603845 | HNF1B | c.540C>A (p.Leu180=) | |
| 17 | g.37739445A>C | CA398751022 | HNF1B | c.539T>G (p.Leu180Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.37739445A>G | CA398751025 | HNF1B | c.539T>C (p.Leu180Pro) | |
| 17 | g.37739445A>T | CA398751027 | HNF1B | c.539T>A (p.Leu180His) | |
| 17 | g.37739446G>A | CA398751029 | HNF1B | c.538C>T (p.Leu180Phe) | |
| 17 | g.37739446G>C | CA398751031 | HNF1B | c.538C>G (p.Leu180Val) | |
| 17 | g.37739446G>T | CA398751032 | HNF1B | c.538C>A (p.Leu180Ile) | |
| 17 | g.37739447G>A | CA499603847 | HNF1B | c.537C>T (p.Ile179=) | |
| 17 | g.37739447G>C | CA398751035 | HNF1B | c.537C>G (p.Ile179Met) | |
| 17 | g.37739447G>T | CA499603846 | HNF1B | c.537C>A (p.Ile179=) | gnomAD v4 |
| 17 | g.37739448A>C | CA398751040 | HNF1B | c.536T>G (p.Ile179Ser) | |
| 17 | g.37739448A>G | CA398751037 | HNF1B | c.536T>C (p.Ile179Thr) | dbSNP |
| 17 | g.37739448A>T | CA398751041 | HNF1B | c.536T>A (p.Ile179Asn) | |
| 17 | g.37739449T>A | CA398751043 | HNF1B | c.535A>T (p.Ile179Phe) | |
| 17 | g.37739449T>C | CA398751047 | HNF1B | c.535A>G (p.Ile179Val) | |
| 17 | g.37739449T>G | CA398751050 | HNF1B | c.535A>C (p.Ile179Leu) | |
| 17 | g.37739450del | CA913190788 | HNF1B | c.534del (p.Ile179SerfsTer15) c.534del (p.Ile179SerfsTer?) | ClinVar |
| 17 | g.37739450C>A | CA398751055 | HNF1B | c.534G>T (p.Glu178Asp) | |
| 17 | g.37739450C>G | CA398751056 | HNF1B | c.534G>C (p.Glu178Asp) | |
| 17 | g.37739450C>T | CA499603848 | HNF1B | c.534G>A (p.Glu178=) | gnomAD v4 |
| 17 | g.37739451T>A | CA398751058 | HNF1B | c.533A>T (p.Glu178Val) | |
| 17 | g.37739451T>C | CA398751060 | HNF1B | c.533A>G (p.Glu178Gly) | ClinVar dbSNP |
| 17 | g.37739451T>G | CA398751063 | HNF1B | c.533A>C (p.Glu178Ala) | |
| 17 | g.37739452C>A | CA398751065 | HNF1B | c.532G>T (p.Glu178Ter) | |
| 17 | g.37739452C>G | CA398751067 | HNF1B | c.532G>C (p.Glu178Gln) | |
| 17 | g.37739452C>T | CA398751068 | HNF1B | c.532G>A (p.Glu178Lys) | |
| 17 | g.37739453T>A | CA499603849 | HNF1B | c.531A>T (p.Arg177=) | |
| 17 | g.37739453T>C | CA499603850 | HNF1B | c.531A>G (p.Arg177=) | |
| 17 | g.37739453T>G | CA499603851 | HNF1B | c.531A>C (p.Arg177=) | |
| 17 | g.37739454C>A | CA398751070 | HNF1B | c.530G>T (p.Arg177Leu) | |
| 17 | g.37739454C>G | CA398751072 | HNF1B | c.530G>C (p.Arg177Pro) | |
| 17 | g.37739454C>T | CA8519067 | HNF1B | c.530G>A (p.Arg177Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.37739455G>A | CA122597 | HNF1B | c.529C>T (p.Arg177Ter) | ClinVar dbSNP |
| 17 | g.37739455G>C | CA398751075 | HNF1B | c.529C>G (p.Arg177Gly) | gnomAD v4 |
| 17 | g.37739455G>T | CA499603852 | HNF1B | c.529C>A (p.Arg177=) | dbSNP |
| 17 | g.37739456T>A | CA398751077 | HNF1B | c.528A>T (p.Gln176His) | |
| 17 | g.37739456T>C | CA499603853 | HNF1B | c.528A>G (p.Gln176=) | |
| 17 | g.37739456T>G | CA398751079 | HNF1B | c.528A>C (p.Gln176His) | |
| 17 | g.37739457T>A | CA398751081 | HNF1B | c.527A>T (p.Gln176Leu) | |
| 17 | g.37739457T>C | CA398751083 | HNF1B | c.527A>G (p.Gln176Arg) | |
| 17 | g.37739457T>G | CA398751085 | HNF1B | c.527A>C (p.Gln176Pro) | ClinVar dbSNP |
| 17 | g.37739458G>A | CA398751087 | HNF1B | c.526C>T (p.Gln176Ter) | ClinVar |
| 17 | g.37739458G>C | CA398751089 | HNF1B | c.526C>G (p.Gln176Glu) | |
| 17 | g.37739458G>T | CA398751090 | HNF1B | c.526C>A (p.Gln176Lys) |