Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
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) |