Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.37739461_37739464del | CA913190789 | HNF1B | c.522_525del (p.Arg174SerfsTer19) c.522_525del (p.Arg174SerfsTer?) | ClinVar |
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) | |
17 | g.37739464T>A | CA398751118 | HNF1B | c.520A>T (p.Arg174Ter) | |
17 | g.37739464T>C | CA398751120 | HNF1B | c.520A>G (p.Arg174Gly) | ClinVar |
17 | g.37739464T>G | CA499603856 | HNF1B | c.520A>C (p.Arg174=) | |
17 | g.37739465G>A | CA499603859 | HNF1B | c.519C>T (p.Val173=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.37739465G>C | CA499603858 | HNF1B | c.519C>G (p.Val173=) | |
17 | g.37739465G>T | CA499603857 | HNF1B | c.519C>A (p.Val173=) | |
17 | g.37739466A>C | CA398751123 | HNF1B | c.518T>G (p.Val173Gly) | |
17 | g.37739466A>G | CA398751125 | HNF1B | c.518T>C (p.Val173Ala) | dbSNP gnomAD v4 |
17 | g.37739466A>T | CA398751128 | HNF1B | c.518T>A (p.Val173Asp) | |
17 | g.37739467C>A | CA398751129 | HNF1B | c.517G>T (p.Val173Phe) | |
17 | g.37739467C>G | CA398751132 | HNF1B | c.517G>C (p.Val173Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.37739467C>T | CA290288602 | HNF1B | c.517G>A (p.Val173Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.37739468G>A | CA8519068 | HNF1B | c.516C>T (p.Tyr172=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.37739468G>C | CA398751136 | HNF1B | c.516C>G (p.Tyr172Ter) | ClinVar dbSNP |
17 | g.37739468G>T | CA398751139 | HNF1B | c.516C>A (p.Tyr172Ter) | |
17 | g.37739469del | CA2582342165 | HNF1B | c.515del (p.Tyr172SerfsTer22) c.515del (p.Tyr172SerfsTer?) | ClinVar |
17 | g.37739469T>A | CA398751143 | HNF1B | c.515A>T (p.Tyr172Phe) | |
17 | g.37739469T>C | CA398751144 | HNF1B | c.515A>G (p.Tyr172Cys) | |
17 | g.37739469T>G | CA398751146 | HNF1B | c.515A>C (p.Tyr172Ser) | |
17 | g.37739470A>C | CA398751150 | HNF1B | c.514T>G (p.Tyr172Asp) | |
17 | g.37739470A>G | CA398751151 | HNF1B | c.514T>C (p.Tyr172His) | gnomAD v4 |
17 | g.37739470A>T | CA398751154 | HNF1B | c.514T>A (p.Tyr172Asn) | |
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) |