Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.37739471C>A | CA398751157 | HNF1B | c.513G>T (p.Trp171Cys) | |
17 | g.37739471C>G | CA398751159 | HNF1B | c.513G>C (p.Trp171Cys) | ClinVar |
17 | g.37739471C>T | CA398751161 | HNF1B | c.513G>A (p.Trp171Ter) | ClinVar |
17 | g.37739472C>A | CA398751164 | HNF1B | c.512G>T (p.Trp171Leu) | |
17 | g.37739472C>G | CA398751166 | HNF1B | c.512G>C (p.Trp171Ser) | |
17 | g.37739472C>T | CA398751169 | HNF1B | c.512G>A (p.Trp171Ter) | |
17 | g.37739473A>C | CA398751170 | HNF1B | c.511T>G (p.Trp171Gly) | |
17 | g.37739473A>G | CA214361 | HNF1B | c.511T>C (p.Trp171Arg) | ClinVar dbSNP |
17 | g.37739473A>T | CA398751173 | HNF1B | c.511T>A (p.Trp171Arg) | |
17 | g.37739474G>A | CA499603860 | HNF1B | c.510C>T (p.Thr170=) | dbSNP |
17 | g.37739474G>C | CA499603861 | HNF1B | c.510C>G (p.Thr170=) | gnomAD v4 |
17 | g.37739474G>T | CA499603862 | HNF1B | c.510C>A (p.Thr170=) | |
17 | g.37739475G>A | CA398751178 | HNF1B | c.509C>T (p.Thr170Ile) | gnomAD v4 |
17 | g.37739475G>C | CA398751181 | HNF1B | c.509C>G (p.Thr170Ser) | |
17 | g.37739475G>T | CA398751180 | HNF1B | c.509C>A (p.Thr170Asn) | |
17 | g.37739476T>A | CA398751184 | HNF1B | c.508A>T (p.Thr170Ser) | |
17 | g.37739476T>C | CA398751187 | HNF1B | c.508A>G (p.Thr170Ala) | gnomAD v4 |
17 | g.37739476T>G | CA398751189 | HNF1B | c.508A>C (p.Thr170Pro) | |
17 | g.37739477G>A | CA8519069 | HNF1B | c.507C>T (p.Tyr169=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.37739477G>C | CA398751193 | HNF1B | c.507C>G (p.Tyr169Ter) | |
17 | g.37739477G>T | CA398751195 | HNF1B | c.507C>A (p.Tyr169Ter) | |
17 | g.37739478T>A | CA398751198 | HNF1B | c.506A>T (p.Tyr169Phe) | gnomAD v4 |
17 | g.37739478T>C | CA398751200 | HNF1B | c.506A>G (p.Tyr169Cys) | |
17 | g.37739478T>G | CA398751203 | HNF1B | c.506A>C (p.Tyr169Ser) | |
17 | g.37739479A>C | CA398751206 | HNF1B | c.505T>G (p.Tyr169Asp) | |
17 | g.37739479A>G | CA398751208 | HNF1B | c.505T>C (p.Tyr169His) | ClinVar |
17 | g.37739479A>T | CA398751209 | HNF1B | c.505T>A (p.Tyr169Asn) | |
17 | g.37739480C>A | CA499603863 | HNF1B | c.504G>T (p.Leu168=) | |
17 | g.37739480C>G | CA499603864 | HNF1B | c.504G>C (p.Leu168=) | |
17 | g.37739480C>T | CA499603865 | HNF1B | c.504G>A (p.Leu168=) | |
17 | g.37739480_37739485delinsAGGGG | CA913190790 | HNF1B | c.499_504delinsCCCCT (p.Ala167ProfsTer27) c.499_504delinsCCCCT (p.Ala167ProfsTer?) | ClinVar dbSNP |
17 | g.37739481A>C | CA398751212 | HNF1B | c.503T>G (p.Leu168Arg) | |
17 | g.37739481A>G | CA398751217 | HNF1B | c.503T>C (p.Leu168Pro) | |
17 | g.37739481A>T | CA398751214 | HNF1B | c.503T>A (p.Leu168Gln) | |
17 | g.37739482G>A | CA499603866 | HNF1B | c.502C>T (p.Leu168=) | |
17 | g.37739482G>C | CA398751219 | HNF1B | c.502C>G (p.Leu168Val) | |
17 | g.37739482G>T | CA398751220 | HNF1B | c.502C>A (p.Leu168Met) | |
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 |