Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.37744841del | CA122606 | HNF1B | c.46del (p.Leu16CysfsTer2) | ClinVar dbSNP |
17 | g.37744841G>A | CA398754997 | HNF1B | c.44C>T (p.Ala15Val) | ClinVar |
17 | g.37744841G>C | CA398754999 | HNF1B | c.44C>G (p.Ala15Gly) | |
17 | g.37744841G>T | CA398755001 | HNF1B | c.44C>A (p.Ala15Asp) | gnomAD v4 |
17 | g.37744842C>A | CA398755003 | HNF1B | c.43G>T (p.Ala15Ser) | gnomAD v4 |
17 | g.37744842C>G | CA398755007 | HNF1B | c.43G>C (p.Ala15Pro) | |
17 | g.37744842C>T | CA398755017 | HNF1B | c.43G>A (p.Ala15Thr) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.37744843G>A | CA499880184 | HNF1B | c.42C>T (p.Ser14=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.37744843G>C | CA398755019 | HNF1B | c.42C>G (p.Ser14Arg) | gnomAD v4 |
17 | g.37744843G>T | CA398755021 | HNF1B | c.42C>A (p.Ser14Arg) | gnomAD v4 |
17 | g.37744844C>A | CA398755033 | HNF1B | c.41G>T (p.Ser14Ile) | |
17 | g.37744844C>G | CA398755030 | HNF1B | c.41G>C (p.Ser14Thr) | |
17 | g.37744844C>T | CA398755029 | HNF1B | c.41G>A (p.Ser14Asn) | |
17 | g.37744845_37744846del | CA771678665 | HNF1B | c.40_41del (p.Ser14ArgfsTer?) | dbSNP |
17 | g.37744845T>A | CA398755036 | HNF1B | c.40A>T (p.Ser14Cys) | |
17 | g.37744845T>C | CA398755083 | HNF1B | c.40A>G (p.Ser14Gly) | |
17 | g.37744845T>G | CA398755039 | HNF1B | c.40A>C (p.Ser14Arg) | |
17 | g.37744846C>A | CA499880189 | HNF1B | c.39G>T (p.Leu13=) | |
17 | g.37744846C>G | CA499880187 | HNF1B | c.39G>C (p.Leu13=) | |
17 | g.37744846C>T | CA499880188 | HNF1B | c.39G>A (p.Leu13=) | |
17 | g.37744847A>C | CA398755088 | HNF1B | c.38T>G (p.Leu13Arg) | |
17 | g.37744847A>G | CA398755093 | HNF1B | c.38T>C (p.Leu13Pro) | |
17 | g.37744847A>T | CA398755096 | HNF1B | c.38T>A (p.Leu13Gln) | |
17 | g.37744848G>A | CA499880193 | HNF1B | c.37C>T (p.Leu13=) | dbSNP |
17 | g.37744848G>C | CA398755099 | HNF1B | c.37C>G (p.Leu13Val) | |
17 | g.37744848G>T | CA398755106 | HNF1B | c.37C>A (p.Leu13Met) | |
17 | g.37744849G>A | CA8519164 | HNF1B | c.36C>T (p.Leu12=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.37744849G>C | CA499880195 | HNF1B | c.36C>G (p.Leu12=) | |
17 | g.37744849G>T | CA499880194 | HNF1B | c.36C>A (p.Leu12=) | |
17 | g.37744850A>C | CA398755119 | HNF1B | c.35T>G (p.Leu12Arg) | gnomAD v4 |
17 | g.37744850A>G | CA398755114 | HNF1B | c.35T>C (p.Leu12Pro) | |
17 | g.37744850A>T | CA398755117 | HNF1B | c.35T>A (p.Leu12His) | gnomAD v4 |
17 | g.37744851G>A | CA398755124 | HNF1B | c.34C>T (p.Leu12Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.37744851G>C | CA398755127 | HNF1B | c.34C>G (p.Leu12Val) | |
17 | g.37744851G>T | CA398755129 | HNF1B | c.34C>A (p.Leu12Ile) | |
17 | g.37744852T>A | CA398755133 | HNF1B | c.33A>T (p.Glu11Asp) | |
17 | g.37744852T>C | CA499880197 | HNF1B | c.33A>G (p.Glu11=) | |
17 | g.37744852T>G | CA398755135 | HNF1B | c.33A>C (p.Glu11Asp) | |
17 | g.37744853T>A | CA398755141 | HNF1B | c.32A>T (p.Glu11Val) | |
17 | g.37744853T>C | CA398755148 | HNF1B | c.32A>G (p.Glu11Gly) | |
17 | g.37744853T>G | CA398755144 | HNF1B | c.32A>C (p.Glu11Ala) | |
17 | g.37744854C>A | CA398755153 | HNF1B | c.31G>T (p.Glu11Ter) | |
17 | g.37744854C>G | CA398755154 | HNF1B | c.31G>C (p.Glu11Gln) | |
17 | g.37744854C>T | CA398755157 | HNF1B | c.31G>A (p.Glu11Lys) | |
17 | g.37744855T>A | CA398755161 | HNF1B | c.30A>T (p.Gln10His) | |
17 | g.37744855T>C | CA499880198 | HNF1B | c.30A>G (p.Gln10=) | |
17 | g.37744855T>G | CA398755163 | HNF1B | c.30A>C (p.Gln10His) | |
17 | g.37744856T>A | CA398755170 | HNF1B | c.29A>T (p.Gln10Leu) | |
17 | g.37744856T>C | CA398755172 | HNF1B | c.29A>G (p.Gln10Arg) | |
17 | g.37744856T>G | CA398755173 | HNF1B | c.29A>C (p.Gln10Pro) |