| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 17 | g.37739459C>A | CA398751093 | HNF1B | c.525G>T (p.Lys175Asn) | |
| 17 | g.37739459C>G | CA398751095 | HNF1B | c.525G>C (p.Lys175Asn) | |
| 17 | g.37739459C>T | CA499603854 | HNF1B | c.525G>A (p.Lys175=) | |
| 17 | g.37739461_37739464del | CA913190789 | HNF1B | c.522_525del (p.Arg174SerfsTer19) c.522_525del (p.Arg174SerfsTer?) | ClinVar |
| 17 | g.37739460T>A | CA398751096 | HNF1B | c.524A>T (p.Lys175Met) | |
| 17 | g.37739460T>C | CA398751097 | HNF1B | c.524A>G (p.Lys175Arg) | |
| 17 | g.37739460T>G | CA398751100 | HNF1B | c.524A>C (p.Lys175Thr) | |
| 17 | g.37739461T>A | CA398751102 | HNF1B | c.523A>T (p.Lys175Ter) | |
| 17 | g.37739461T>C | CA398751107 | HNF1B | c.523A>G (p.Lys175Glu) | |
| 17 | g.37739461T>G | CA398751104 | HNF1B | c.523A>C (p.Lys175Gln) | |
| 17 | g.37739462T>A | CA398751109 | HNF1B | c.522A>T (p.Arg174Ser) | |
| 17 | g.37739462T>C | CA499603855 | HNF1B | c.522A>G (p.Arg174=) | |
| 17 | g.37739462T>G | CA398751110 | HNF1B | c.522A>C (p.Arg174Ser) | |
| 17 | g.37739463C>A | CA398751112 | HNF1B | c.521G>T (p.Arg174Ile) | |
| 17 | g.37739463C>G | CA398751114 | HNF1B | c.521G>C (p.Arg174Thr) | |
| 17 | g.37739463C>T | CA398751117 | HNF1B | c.521G>A (p.Arg174Lys) |