| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.37739480_37739485delinsAGGGG | CA913190790 | HNF1B | c.499_504delinsCCCCT (p.Ala167ProfsTer27) c.499_504delinsCCCCT (p.Ala167ProfsTer?) | ClinVar dbSNP |
| 17 | g.37739483A>C | CA499603869 | HNF1B | c.501T>G (p.Ala167=) | |
| 17 | g.37739483A>G | CA499603868 | HNF1B | c.501T>C (p.Ala167=) | dbSNP |
| 17 | g.37739483A>T | CA499603867 | HNF1B | c.501T>A (p.Ala167=) | |
| 17 | g.37739484G>A | CA398751221 | HNF1B | c.500C>T (p.Ala167Val) | |
| 17 | g.37739484G>C | CA398751223 | HNF1B | c.500C>G (p.Ala167Gly) | |
| 17 | g.37739484G>T | CA398751225 | HNF1B | c.500C>A (p.Ala167Asp) | |
| 17 | g.37739485C>A | CA398751227 | HNF1B | c.499G>T (p.Ala167Ser) | |
| 17 | g.37739485C>G | CA398751228 | HNF1B | c.499G>C (p.Ala167Pro) | ClinVar dbSNP |
| 17 | g.37739485C>T | CA8519070 | HNF1B | c.499G>A (p.Ala167Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.37739486G>A | CA8519071 | HNF1B | c.498C>T (p.Ala166=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.37739486G>C | CA499603870 | HNF1B | c.498C>G (p.Ala166=) | |
| 17 | g.37739486G>T | CA499603871 | HNF1B | c.498C>A (p.Ala166=) | |
| 17 | g.37739487G>A | CA8519072 | HNF1B | c.497C>T (p.Ala166Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.37739487G>C | CA398751233 | HNF1B | c.497C>G (p.Ala166Gly) | |
| 17 | g.37739487G>T | CA398751232 | HNF1B | c.497C>A (p.Ala166Asp) | |
| 17 | g.37739488C>A | CA398751235 | HNF1B | c.496G>T (p.Ala166Ser) | |
| 17 | g.37739488C>G | CA398751237 | HNF1B | c.496G>C (p.Ala166Pro) | |
| 17 | g.37739488C>T | CA398751238 | HNF1B | c.496G>A (p.Ala166Thr) | |
| 17 | g.37739489_37739490del | CA1139665506 | HNF1B | c.495_496del (p.Ala166ArgfsTer?) c.495_496del (p.Ala166ArgfsTer29) | ClinVar dbSNP |
| 17 | g.37739489A>C | CA499603872 | HNF1B | c.495T>G (p.Arg165=) | |
| 17 | g.37739489A>G | CA499603873 | HNF1B | c.495T>C (p.Arg165=) | |
| 17 | g.37739489A>T | CA499603874 | HNF1B | c.495T>A (p.Arg165=) | |
| 17 | g.37739490C>A | CA398751240 | HNF1B | c.494G>T (p.Arg165Leu) | |
| 17 | g.37739490C>G | CA398751241 | HNF1B | c.494G>C (p.Arg165Pro) | ClinVar |
| 17 | g.37739490C>T | CA122605 | HNF1B | c.494G>A (p.Arg165His) | ClinVar dbSNP |
| 17 | g.37739491G>A | CA398751247 | HNF1B | c.493C>T (p.Arg165Cys) | ClinVar gnomAD v4 |
| 17 | g.37739491G>C | CA398751244 | HNF1B | c.493C>G (p.Arg165Gly) | |
| 17 | g.37739491G>T | CA398751245 | HNF1B | c.493C>A (p.Arg165Ser) | |
| 17 | g.37739492C>A | CA398751248 | HNF1B | c.492G>T (p.Lys164Asn) | |
| 17 | g.37739492C>G | CA398751250 | HNF1B | c.492G>C (p.Lys164Asn) | |
| 17 | g.37739492C>T | CA499603879 | HNF1B | c.492G>A (p.Lys164=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.37739493T>A | CA398751252 | HNF1B | c.491A>T (p.Lys164Met) | |
| 17 | g.37739493T>C | CA398751253 | HNF1B | c.491A>G (p.Lys164Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.37739493T>G | CA398751254 | HNF1B | c.491A>C (p.Lys164Thr) | |
| 17 | g.37739494T>A | CA398751256 | HNF1B | c.490A>T (p.Lys164Ter) | |
| 17 | g.37739494T>C | CA398751259 | HNF1B | c.490A>G (p.Lys164Glu) | ClinVar |
| 17 | g.37739494T>G | CA398751258 | HNF1B | c.490A>C (p.Lys164Gln) | ClinVar |
| 17 | g.37739495C>A | CA398751261 | HNF1B | c.489G>T (p.Gln163His) | dbSNP |
| 17 | g.37739495C>G | CA398751262 | HNF1B | c.489G>C (p.Gln163His) | |
| 17 | g.37739495C>T | CA499603883 | HNF1B | c.489G>A (p.Gln163=) | |
| 17 | g.37739496T>A | CA398751264 | HNF1B | c.488A>T (p.Gln163Leu) | |
| 17 | g.37739496T>C | CA398751266 | HNF1B | c.488A>G (p.Gln163Arg) | |
| 17 | g.37739496T>G | CA398751267 | HNF1B | c.488A>C (p.Gln163Pro) | |
| 17 | g.37739497G>A | CA398751269 | HNF1B | c.487C>T (p.Gln163Ter) | |
| 17 | g.37739497G>C | CA398751270 | HNF1B | c.487C>G (p.Gln163Glu) | dbSNP gnomAD v4 |
| 17 | g.37739497G>T | CA398751272 | HNF1B | c.487C>A (p.Gln163Lys) | ClinVar dbSNP |
| 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=) |