Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.37739419_37739424del | CA2637449185 | HNF1B | c.544+23_544+28del (n.544+23_544+28del) | gnomAD v4 |
17 | g.37739420G>A | CA2637449188 | HNF1B | c.544+20C>T (n.544+20C>T) | gnomAD v4 |
17 | g.37739424G>A | CA626207269 | HNF1B | c.544+16C>T (n.544+16C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.37739427_37739445del | CA2695225790 | HNF1B | c.542_544+16del | |
17 | g.37739425G>A | CA2637449189 | HNF1B | c.544+15C>T (n.544+15C>T) | gnomAD v4 |
17 | g.37739425G>C | CA290288588 | HNF1B | c.544+15C>G (n.544+15C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.37739425_37739426insT | CA771673892 | HNF1B | c.544+14_544+15insA (n.544+14_544+15insA) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.37739426A>G | CA8519065 | HNF1B | c.544+14T>C (n.544+14T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.37739426A>T | CA8519064 | HNF1B | c.544+14T>A (n.544+14T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.37739426dup | CA2576244086 | HNF1B | c.544+14dup (n.544+14dup) | |
17 | g.37739432del | CA2576244087 | HNF1B | c.544+11del (n.544+11del) | |
17 | g.37739433C>T | CA290288594 | HNF1B | c.544+7G>A (n.544+7G>A) | ClinVar dbSNP |
17 | g.37739436_37739439del | CA913190784 | HNF1B | c.544+3_544+6del (n.544+3_544+6del) | ClinVar dbSNP |
17 | g.37739435C>T | CA2697559834 | HNF1B | c.544+5G>A (n.544+5G>A) | ClinVar |
17 | g.37739436T>G | CA2695225791 | HNF1B | c.544+4A>C (n.544+4A>C) | |
17 | g.37739436_37739437insA | CA913190785 | HNF1B | c.544+3_544+4insT (n.544+3_544+4insT) | ClinVar |
17 | g.37739437_37739438dup | CA913190786 | HNF1B | c.544+2_544+3dup (n.544+2_544+3dup) | ClinVar |
17 | g.37739438A>C | CA398750977 | HNF1B | c.544+2T>G (n.544+2T>G) | |
17 | g.37739438A>G | CA398750980 | HNF1B | c.544+2T>C (n.544+2T>C) | |
17 | g.37739438A>T | CA398750986 | HNF1B | c.544+2T>A (n.544+2T>A) | |
17 | g.37739438dup | CA913190787 | HNF1B | c.544+2dup (n.544+2dup) | ClinVar |
17 | g.37739439C>A | CA398750992 | HNF1B | c.544+1G>T (n.544+1G>T) | ClinVar |
17 | g.37739439C>G | CA398750995 | HNF1B | c.544+1G>C (n.544+1G>C) | ClinVar |
17 | g.37739439C>T | CA398750998 | HNF1B | c.544+1G>A (n.544+1G>A) | ClinVar |
17 | g.37739440G>A | CA398751000 | HNF1B | c.544C>T (p.Gln182Ter) | ClinVar |
17 | g.37739440G>C | CA398751004 | HNF1B | c.544C>G (p.Gln182Glu) | |
17 | g.37739440G>T | CA398751002 | HNF1B | c.544C>A (p.Gln182Lys) | |
17 | g.37739441T>A | CA499603839 | HNF1B | c.543A>T (p.Arg181=) | |
17 | g.37739441T>C | CA499603840 | HNF1B | c.543A>G (p.Arg181=) | gnomAD v4 |
17 | g.37739441T>G | CA499603841 | HNF1B | c.543A>C (p.Arg181=) | |
17 | g.37739442C>A | CA398751006 | HNF1B | c.542G>T (p.Arg181Leu) | gnomAD v4 |
17 | g.37739442C>G | CA398751010 | HNF1B | c.542G>C (p.Arg181Pro) | |
17 | g.37739442C>T | CA8519066 | HNF1B | c.542G>A (p.Arg181Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.37739443G>A | CA16043028 | HNF1B | c.541C>T (p.Arg181Ter) | ClinVar dbSNP |
17 | g.37739443G>C | CA398751020 | HNF1B | c.541C>G (p.Arg181Gly) | |
17 | g.37739443G>T | CA499603842 | HNF1B | c.541C>A (p.Arg181=) | |
17 | g.37739444G>A | CA499603843 | HNF1B | c.540C>T (p.Leu180=) | |
17 | g.37739444G>C | CA499603844 | HNF1B | c.540C>G (p.Leu180=) | |
17 | g.37739444G>T | CA499603845 | HNF1B | c.540C>A (p.Leu180=) | |
17 | g.37739445A>C | CA398751022 | HNF1B | c.539T>G (p.Leu180Arg) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.37739445A>G | CA398751025 | HNF1B | c.539T>C (p.Leu180Pro) | |
17 | g.37739445A>T | CA398751027 | HNF1B | c.539T>A (p.Leu180His) | |
17 | g.37739446G>A | CA398751029 | HNF1B | c.538C>T (p.Leu180Phe) | |
17 | g.37739446G>C | CA398751031 | HNF1B | c.538C>G (p.Leu180Val) | |
17 | g.37739446G>T | CA398751032 | HNF1B | c.538C>A (p.Leu180Ile) | |
17 | g.37739447G>A | CA499603847 | HNF1B | c.537C>T (p.Ile179=) | |
17 | g.37739447G>C | CA398751035 | HNF1B | c.537C>G (p.Ile179Met) | |
17 | g.37739447G>T | CA499603846 | HNF1B | c.537C>A (p.Ile179=) | gnomAD v4 |
17 | g.37739448A>C | CA398751040 | HNF1B | c.536T>G (p.Ile179Ser) | ClinVar |
17 | g.37739448A>G | CA398751037 | HNF1B | c.536T>C (p.Ile179Thr) | dbSNP |
17 | g.37739448A>T | CA398751041 | HNF1B | c.536T>A (p.Ile179Asn) | |
17 | g.37739449T>A | CA398751043 | HNF1B | c.535A>T (p.Ile179Phe) | |
17 | g.37739449T>C | CA398751047 | HNF1B | c.535A>G (p.Ile179Val) | |
17 | g.37739449T>G | CA398751050 | HNF1B | c.535A>C (p.Ile179Leu) | |
17 | g.37739450del | CA913190788 | HNF1B | c.534del (p.Ile179SerfsTer15) c.534del (p.Ile179SerfsTer?) | ClinVar |
17 | g.37739450C>A | CA398751055 | HNF1B | c.534G>T (p.Glu178Asp) | |
17 | g.37739450C>G | CA398751056 | HNF1B | c.534G>C (p.Glu178Asp) | |
17 | g.37739450C>T | CA499603848 | HNF1B | c.534G>A (p.Glu178=) | gnomAD v4 |
17 | g.37739451T>A | CA398751058 | HNF1B | c.533A>T (p.Glu178Val) | |
17 | g.37739451T>C | CA398751060 | HNF1B | c.533A>G (p.Glu178Gly) | ClinVar dbSNP |
17 | g.37739451T>G | CA398751063 | HNF1B | c.533A>C (p.Glu178Ala) | |
17 | g.37739452C>A | CA398751065 | HNF1B | c.532G>T (p.Glu178Ter) | |
17 | g.37739452C>G | CA398751067 | HNF1B | c.532G>C (p.Glu178Gln) | |
17 | g.37739452C>T | CA398751068 | HNF1B | c.532G>A (p.Glu178Lys) | |
17 | g.37739453T>A | CA499603849 | HNF1B | c.531A>T (p.Arg177=) | |
17 | g.37739453T>C | CA499603850 | HNF1B | c.531A>G (p.Arg177=) | |
17 | g.37739453T>G | CA499603851 | HNF1B | c.531A>C (p.Arg177=) | |
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) | |
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) | |
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 |
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= | CA2838147743 | HNF1B | c.494G= (p.Arg165=) | |
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) | ClinVar |
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=) | |
17 | g.37739498G>T | CA499603889 | HNF1B | c.486C>A (p.Thr162=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.37739499G>A | CA398751274 | HNF1B | c.485C>T (p.Thr162Ile) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.37739499G>C | CA398751275 | HNF1B | c.485C>G (p.Thr162Ser) | |
17 | g.37739499G>T | CA398751276 | HNF1B | c.485C>A (p.Thr162Asn) | |
17 | g.37739500del | CA913190792 | HNF1B | c.484del (p.Thr162ProfsTer?) | ClinVar |
17 | g.37739500T>A | CA398751282 | HNF1B | c.484A>T (p.Thr162Ser) | |
17 | g.37739500T>C | CA398751280 | HNF1B | c.484A>G (p.Thr162Ala) | |
17 | g.37739500T>G | CA398751279 | HNF1B | c.484A>C (p.Thr162Pro) | |
17 | g.37739503_37739577del | CA913190793 | HNF1B | c.410_484del (p.Arg137_Lys161del) | ClinVar |
17 | g.37739501C>A | CA398751283 | HNF1B | c.483G>T (p.Lys161Asn) | |
17 | g.37739501C>G | CA398751286 | HNF1B | c.483G>C (p.Lys161Asn) | |
17 | g.37739501C>T | CA8519073 | HNF1B | c.483G>A (p.Lys161=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.37739502T>A | CA398751288 | HNF1B | c.482A>T (p.Lys161Met) | |
17 | g.37739502T>C | CA290288642 | HNF1B | c.482A>G (p.Lys161Arg) | dbSNP |
17 | g.37739502T>G | CA398751289 | HNF1B | c.482A>C (p.Lys161Thr) | |
17 | g.37739503T>A | CA398751292 | HNF1B | c.481A>T (p.Lys161Ter) | ClinVar dbSNP |
17 | g.37739503T>C | CA398751294 | HNF1B | c.481A>G (p.Lys161Glu) | |
17 | g.37739503T>G | CA398751293 | HNF1B | c.481A>C (p.Lys161Gln) | |
17 | g.37739504C>A | CA398751296 | HNF1B | c.480G>T (p.Met160Ile) | |
17 | g.37739504C>G | CA398751300 | HNF1B | c.480G>C (p.Met160Ile) | |
17 | g.37739504C>T | CA398751298 | HNF1B | c.480G>A (p.Met160Ile) | ClinVar |
17 | g.37739505A>C | CA10606095 | HNF1B | c.479T>G (p.Met160Arg) | ClinVar dbSNP |
17 | g.37739505A>G | CA398751302 | HNF1B | c.479T>C (p.Met160Thr) | ClinVar |
17 | g.37739505A>T | CA398751303 | HNF1B | c.479T>A (p.Met160Lys) | |
17 | g.37739506T>A | CA398751305 | HNF1B | c.478A>T (p.Met160Leu) | |
17 | g.37739506T>C | CA398751307 | HNF1B | c.478A>G (p.Met160Val) | ClinVar |
17 | g.37739506T>G | CA398751308 | HNF1B | c.478A>C (p.Met160Leu) | |
17 | g.37739507del | CA214360 | HNF1B | c.477del (p.Met160Ter) | ClinVar dbSNP |
17 | g.37739507A>C | CA499603899 | HNF1B | c.477T>G (p.Pro159=) | |
17 | g.37739507A>G | CA499603900 | HNF1B | c.477T>C (p.Pro159=) | ClinVar dbSNP |
17 | g.37739507A>T | CA499603902 | HNF1B | c.477T>A (p.Pro159=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.37739508G>A | CA398751311 | HNF1B | c.476C>T (p.Pro159Leu) | ClinVar gnomAD v4 |
17 | g.37739508G>C | CA398751312 | HNF1B | c.476C>G (p.Pro159Arg) | |
17 | g.37739508G>T | CA398751314 | HNF1B | c.476C>A (p.Pro159His) | |
17 | g.37739509G>A | CA398751319 | HNF1B | c.475C>T (p.Pro159Ser) | ClinVar |
17 | g.37739509G>C | CA398751316 | HNF1B | c.475C>G (p.Pro159Ala) | |
17 | g.37739509G>T | CA398751317 | HNF1B | c.475C>A (p.Pro159Thr) | |
17 | g.37739510G>A | CA499603904 | HNF1B | c.474C>T (p.Thr158=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.37739510G>C | CA499603905 | HNF1B | c.474C>G (p.Thr158=) | |
17 | g.37739510G>T | CA499603906 | HNF1B | c.474C>A (p.Thr158=) | |
17 | g.37739511G>A | CA398751320 | HNF1B | c.473C>T (p.Thr158Ile) | ClinVar dbSNP |
17 | g.37739511G>C | CA398751322 | HNF1B | c.473C>G (p.Thr158Ser) | |
17 | g.37739511G>T | CA398751323 | HNF1B | c.473C>A (p.Thr158Asn) | ClinVar dbSNP |
17 | g.37739511_37739512insGGGCTGCA | CA913190794 | HNF1B | c.472_473insTGCAGCCC (p.Thr158MetfsTer6) | ClinVar |
17 | g.37739512T>A | CA398751324 | HNF1B | c.472A>T (p.Thr158Ser) | |
17 | g.37739512T>C | CA398751325 | HNF1B | c.472A>G (p.Thr158Ala) | |
17 | g.37739512T>G | CA398751327 | HNF1B | c.472A>C (p.Thr158Pro) | |
17 | g.37739513del | CA913190795 | HNF1B | c.471del (p.Thr158ProfsTer3) | ClinVar |
17 | g.37739513G>A | CA499603910 | HNF1B | c.471C>T (p.Gly157=) | |
17 | g.37739513G>C | CA499603911 | HNF1B | c.471C>G (p.Gly157=) | |
17 | g.37739513G>T | CA499603909 | HNF1B | c.471C>A (p.Gly157=) | dbSNP gnomAD v4 |
17 | g.37739514C>A | CA398751329 | HNF1B | c.470G>T (p.Gly157Val) | |
17 | g.37739514C>G | CA398751330 | HNF1B | c.470G>C (p.Gly157Ala) | |
17 | g.37739514C>T | CA398751331 | HNF1B | c.470G>A (p.Gly157Asp) | |
17 | g.37739515C>A | CA398751335 | HNF1B | c.469G>T (p.Gly157Cys) | |
17 | g.37739515C>G | CA398751337 | HNF1B | c.469G>C (p.Gly157Arg) | |
17 | g.37739515C>T | CA398751333 | HNF1B | c.469G>A (p.Gly157Ser) | |
17 | g.37739516C>A | CA398751338 | HNF1B | c.468G>T (p.Lys156Asn) | |
17 | g.37739516C>G | CA398751339 | HNF1B | c.468G>C (p.Lys156Asn) | |
17 | g.37739516C>T | CA499603917 | HNF1B | c.468G>A (p.Lys156=) | gnomAD v4 |
17 | g.37739517T>A | CA398751342 | HNF1B | c.467A>T (p.Lys156Met) | |
17 | g.37739517T>C | CA398751344 | HNF1B | c.467A>G (p.Lys156Arg) | |
17 | g.37739517T>G | CA398751345 | HNF1B | c.467A>C (p.Lys156Thr) | |
17 | g.37739518T>A | CA398751349 | HNF1B | c.466A>T (p.Lys156Ter) | |
17 | g.37739518T>C | CA398751347 | HNF1B | c.466A>G (p.Lys156Glu) | ClinVar |
17 | g.37739518T>G | CA398751348 | HNF1B | c.466A>C (p.Lys156Gln) | |
17 | g.37739519G>A | CA499603923 | HNF1B | c.465C>T (p.Asn155=) | |
17 | g.37739519G>C | CA398751351 | HNF1B | c.465C>G (p.Asn155Lys) | |
17 | g.37739519G>T | CA398751352 | HNF1B | c.465C>A (p.Asn155Lys) | |
17 | g.37739520T>A | CA398751353 | HNF1B | c.464A>T (p.Asn155Ile) | |
17 | g.37739520T>C | CA398751355 | HNF1B | c.464A>G (p.Asn155Ser) | |
17 | g.37739520T>G | CA398751356 | HNF1B | c.464A>C (p.Asn155Thr) |