UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.37731598_37731833del | CA913190764 | HNF1B | c.811_1045+1del c.733_967+1del n.263_498del | ClinVar |
| 17 | g.37731599_37733825del | CA915950000 | HNF1B | c.545_1045del c.545-78_967del | |
| 17 | g.37731714A>C | CA398746666 | HNF1B | c.926T>G (p.Phe309Cys) c.848T>G (p.Phe283Cys) n.378T>G c.829T>G (p.Ser277Ala) | ClinVar |
| 17 | g.37731714A>G | CA398746668 | HNF1B | c.926T>C (p.Phe309Ser) c.848T>C (p.Phe283Ser) n.378T>C c.829T>C (p.Ser277Pro) | |
| 17 | g.37731714A>T | CA398746670 | HNF1B | c.926T>A (p.Phe309Tyr) c.848T>A (p.Phe283Tyr) n.378T>A c.829T>A (p.Ser277Thr) | |
| 17 | g.37731715A>C | CA398746675 | HNF1B | c.925T>G (p.Phe309Val) c.847T>G (p.Phe283Val) n.377T>G c.828T>G (p.His276Gln) | |
| 17 | g.37731715A>G | CA398746673 | HNF1B | c.925T>C (p.Phe309Leu) c.847T>C (p.Phe283Leu) n.377T>C c.828T>C (p.His276=) | |
| 17 | g.37731715A>T | CA398746671 | HNF1B | c.925T>A (p.Phe309Ile) c.847T>A (p.Phe283Ile) n.377T>A c.828T>A (p.His276Gln) | |
| 17 | g.37731716T>A | CA398746677 | HNF1B | c.924A>T (p.Ala308=) c.846A>T (p.Ala282=) n.376A>T c.827A>T (p.His276Leu) | |
| 17 | g.37731716T>C | CA398746679 | HNF1B | c.924A>G (p.Ala308=) c.846A>G (p.Ala282=) n.376A>G c.827A>G (p.His276Arg) | gnomAD v4 |
| 17 | g.37731716T>G | CA398746681 | HNF1B | c.924A>C (p.Ala308=) c.846A>C (p.Ala282=) n.376A>C c.827A>C (p.His276Pro) | |
| 17 | g.37731717G>A | CA398746683 | HNF1B | c.923C>T (p.Ala308Val) c.845C>T (p.Ala282Val) n.375C>T c.826C>T (p.His276Tyr) | |
| 17 | g.37731717G>C | CA398746684 | HNF1B | c.923C>G (p.Ala308Gly) c.845C>G (p.Ala282Gly) n.375C>G c.826C>G (p.His276Asp) | |
| 17 | g.37731717G>T | CA398746686 | HNF1B | c.923C>A (p.Ala308Glu) c.845C>A (p.Ala282Glu) n.375C>A c.826C>A (p.His276Asn) | |
| 17 | g.37731718C>A | CA398746688 | HNF1B | c.922G>T (p.Ala308Ser) c.844G>T (p.Ala282Ser) n.374G>T c.825G>T (p.Arg275Ser) | |
| 17 | g.37731718C>G | CA398746692 | HNF1B | c.922G>C (p.Ala308Pro) c.844G>C (p.Ala282Pro) n.374G>C c.825G>C (p.Arg275Ser) | |
| 17 | g.37731718C>T | CA398746690 | HNF1B | c.922G>A (p.Ala308Thr) c.844G>A (p.Ala282Thr) n.374G>A c.825G>A (p.Arg275=) | gnomAD v4 |
| 17 | g.37731719C>A | CA398746694 | HNF1B | c.921G>T (p.Glu307Asp) c.843G>T (p.Glu281Asp) n.373G>T c.824G>T (p.Arg275Met) | |
| 17 | g.37731719C>G | CA398746696 | HNF1B | c.921G>C (p.Glu307Asp) c.843G>C (p.Glu281Asp) n.373G>C c.824G>C (p.Arg275Thr) | |
| 17 | g.37731719C>T | CA398746698 | HNF1B | c.921G>A (p.Glu307=) c.843G>A (p.Glu281=) n.373G>A c.824G>A (p.Arg275Lys) | |
| 17 | g.37731720T>A | CA398746700 | HNF1B | c.920A>T (p.Glu307Val) c.842A>T (p.Glu281Val) n.372A>T c.823A>T (p.Arg275Trp) | |
| 17 | g.37731720T>C | CA398746702 | HNF1B | c.920A>G (p.Glu307Gly) c.842A>G (p.Glu281Gly) n.372A>G c.823A>G (p.Arg275Gly) | |
| 17 | g.37731720T>G | CA398746704 | HNF1B | c.920A>C (p.Glu307Ala) c.842A>C (p.Glu281Ala) n.372A>C c.823A>C (p.Arg275=) | gnomAD v4 |
| 17 | g.37731721C>A | CA398746705 | HNF1B | c.919G>T (p.Glu307Ter) c.841G>T (p.Glu281Ter) n.371G>T c.822G>T (p.Arg274Ser) | |
| 17 | g.37731721C>G | CA398746707 | HNF1B | c.919G>C (p.Glu307Gln) c.841G>C (p.Glu281Gln) n.371G>C c.822G>C (p.Arg274Ser) | |
| 17 | g.37731721C>T | CA398746709 | HNF1B | c.919G>A (p.Glu307Lys) c.841G>A (p.Glu281Lys) n.371G>A c.822G>A (p.Arg274=) | |
| 17 | g.37731722C>A | CA398746711 | HNF1B | c.918G>T (p.Glu306Asp) c.840G>T (p.Glu280Asp) n.370G>T c.821G>T (p.Arg274Met) | |
| 17 | g.37731722C>G | CA398746713 | HNF1B | c.918G>C (p.Glu306Asp) c.840G>C (p.Glu280Asp) n.370G>C c.821G>C (p.Arg274Thr) | |
| 17 | g.37731722C>T | CA398746715 | HNF1B | c.918G>A (p.Glu306=) c.840G>A (p.Glu280=) n.370G>A c.821G>A (p.Arg274Lys) | |
| 17 | g.37731723T>A | CA398746717 | HNF1B | c.917A>T (p.Glu306Val) c.839A>T (p.Glu280Val) n.369A>T c.820A>T (p.Arg274Trp) | |
| 17 | g.37731723T>C | CA398746721 | HNF1B | c.917A>G (p.Glu306Gly) c.839A>G (p.Glu280Gly) n.369A>G c.820A>G (p.Arg274Gly) | |
| 17 | g.37731723T>G | CA398746719 | HNF1B | c.917A>C (p.Glu306Ala) c.839A>C (p.Glu280Ala) n.369A>C c.820A>C (p.Arg274=) | |
| 17 | g.37731724C>A | CA398746723 | HNF1B | c.916G>T (p.Glu306Ter) c.838G>T (p.Glu280Ter) n.368G>T c.819G>T (p.Arg273Ser) | |
| 17 | g.37731724C>G | CA398746725 | HNF1B | c.916G>C (p.Glu306Gln) c.838G>C (p.Glu280Gln) n.368G>C c.819G>C (p.Arg273Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.37731724C>T | CA398746727 | HNF1B | c.916G>A (p.Glu306Lys) c.838G>A (p.Glu280Lys) n.368G>A c.819G>A (p.Arg273=) | dbSNP |
| 17 | g.37731725C>A | CA398746729 | HNF1B | c.915G>T (p.Lys305Asn) c.837G>T (p.Lys279Asn) n.367G>T c.818G>T (p.Arg273Met) | |
| 17 | g.37731725C>G | CA398746731 | HNF1B | c.915G>C (p.Lys305Asn) c.837G>C (p.Lys279Asn) n.367G>C c.818G>C (p.Arg273Thr) | |
| 17 | g.37731725C>T | CA398746733 | HNF1B | c.915G>A (p.Lys305=) c.837G>A (p.Lys279=) n.367G>A c.818G>A (p.Arg273Lys) | dbSNP gnomAD v4 |
| 17 | g.37731726T>A | CA398746735 | HNF1B | c.914A>T (p.Lys305Met) c.836A>T (p.Lys279Met) n.366A>T c.817A>T (p.Arg273Trp) | |
| 17 | g.37731726T>C | CA398746737 | HNF1B | c.914A>G (p.Lys305Arg) c.836A>G (p.Lys279Arg) n.366A>G c.817A>G (p.Arg273Gly) | |
| 17 | g.37731726T>G | CA398746739 | HNF1B | c.914A>C (p.Lys305Thr) c.836A>C (p.Lys279Thr) n.366A>C c.817A>C (p.Arg273=) | |
| 17 | g.37731727T>A | CA398746741 | HNF1B | c.913A>T (p.Lys305Ter) c.835A>T (p.Lys279Ter) n.365A>T c.816A>T (p.Gly272=) | |
| 17 | g.37731727T>C | CA398746743 | HNF1B | c.913A>G (p.Lys305Glu) c.835A>G (p.Lys279Glu) n.365A>G c.816A>G (p.Gly272=) | ClinVar dbSNP |
| 17 | g.37731727T>G | CA398746745 | HNF1B | c.913A>C (p.Lys305Gln) c.835A>C (p.Lys279Gln) n.365A>C c.816A>C (p.Gly272=) | |
| 17 | g.37731728C>A | CA398746748 | HNF1B | c.912G>T (p.Arg304Ser) c.834G>T (p.Arg278Ser) n.364G>T c.815G>T (p.Gly272Val) | |
| 17 | g.37731728C>G | CA398746746 | HNF1B | c.912G>C (p.Arg304Ser) c.834G>C (p.Arg278Ser) n.364G>C c.815G>C (p.Gly272Ala) | |
| 17 | g.37731728C>T | CA398746747 | HNF1B | c.912G>A (p.Arg304=) c.834G>A (p.Arg278=) n.364G>A c.815G>A (p.Gly272Glu) | dbSNP |
| 17 | g.37731729C>A | CA398746750 | HNF1B | c.911G>T (p.Arg304Met) c.833G>T (p.Arg278Met) n.363G>T c.814G>T (p.Gly272Ter) | |
| 17 | g.37731729C>G | CA398746752 | HNF1B | c.911G>C (p.Arg304Thr) c.833G>C (p.Arg278Thr) n.363G>C c.814G>C (p.Gly272Arg) | |
| 17 | g.37731729C>T | CA398746753 | HNF1B | c.911G>A (p.Arg304Lys) c.833G>A (p.Arg278Lys) n.363G>A c.814G>A (p.Gly272Arg) | |
| 17 | g.37731730T>A | CA398746756 | HNF1B | c.910A>T (p.Arg304Trp) c.832A>T (p.Arg278Trp) n.362A>T c.813A>T (p.Ala271=) | |
| 17 | g.37731730T>C | CA398746758 | HNF1B | c.910A>G (p.Arg304Gly) c.832A>G (p.Arg278Gly) n.362A>G c.813A>G (p.Ala271=) | ClinVar dbSNP |
| 17 | g.37731730T>G | CA499602681 | HNF1B | c.910A>C (p.Arg304=) c.832A>C (p.Arg278=) n.362A>C c.813A>C (p.Ala271=) | |
| 17 | g.37731731G>A | CA398746760 | HNF1B | c.909C>T (p.Arg303=) c.831C>T (p.Arg277=) n.361C>T c.812C>T (p.Ala271Val) | |
| 17 | g.37731731G>C | CA398746762 | HNF1B | c.909C>G (p.Arg303=) c.831C>G (p.Arg277=) n.361C>G c.812C>G (p.Ala271Gly) | |
| 17 | g.37731731G>T | CA398746764 | HNF1B | c.909C>A (p.Arg303=) c.831C>A (p.Arg277=) n.361C>A c.812C>A (p.Ala271Glu) | |
| 17 | g.37731732C>A | CA398746767 | HNF1B | c.908G>T (p.Arg303Leu) c.830G>T (p.Arg277Leu) n.360G>T c.811G>T (p.Ala271Ser) | ClinVar |
| 17 | g.37731732C>G | CA398746769 | HNF1B | c.908G>C (p.Arg303Pro) c.830G>C (p.Arg277Pro) n.360G>C c.811G>C (p.Ala271Pro) | |
| 17 | g.37731732C>T | CA398746770 | HNF1B | c.908G>A (p.Arg303His) c.830G>A (p.Arg277His) n.360G>A c.811G>A (p.Ala271Thr) | ClinVar dbSNP |
| 17 | g.37731733G>A | CA398746771 | HNF1B | c.907C>T (p.Arg303Cys) c.829C>T (p.Arg277Cys) n.359C>T c.810C>T (p.Thr270=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.37731733G>C | CA398746775 | HNF1B | c.907C>G (p.Arg303Gly) c.829C>G (p.Arg277Gly) n.359C>G c.810C>G (p.Thr270=) | |
| 17 | g.37731733G>T | CA398746773 | HNF1B | c.907C>A (p.Arg303Ser) c.829C>A (p.Arg277Ser) n.359C>A c.810C>A (p.Thr270=) | gnomAD v4 |
| 17 | g.37731734G>A | CA398746778 | HNF1B | c.906C>T (p.Asn302=) c.828C>T (p.Asn276=) n.358C>T c.809C>T (p.Thr270Ile) | ClinVar |
| 17 | g.37731734G>C | CA398746781 | HNF1B | c.906C>G (p.Asn302Lys) c.828C>G (p.Asn276Lys) n.358C>G c.809C>G (p.Thr270Ser) | |
| 17 | g.37731734G>T | CA398746779 | HNF1B | c.906C>A (p.Asn302Lys) c.828C>A (p.Asn276Lys) n.358C>A c.809C>A (p.Thr270Asn) | ClinVar |
| 17 | g.37731735T>A | CA398746783 | HNF1B | c.905A>T (p.Asn302Ile) c.827A>T (p.Asn276Ile) n.357A>T c.808A>T (p.Thr270Ser) | |
| 17 | g.37731735T>C | CA398746786 | HNF1B | c.905A>G (p.Asn302Ser) c.827A>G (p.Asn276Ser) n.357A>G c.808A>G (p.Thr270Ala) | |
| 17 | g.37731735T>G | CA398746785 | HNF1B | c.905A>C (p.Asn302Thr) c.827A>C (p.Asn276Thr) n.357A>C c.808A>C (p.Thr270Pro) | |
| 17 | g.37731737del | CA2695225787 | HNF1B | c.905del (p.Asn302ThrfsTer25) c.827del (p.Asn276ThrfsTer25) n.357del c.808del (p.Thr270ProfsTer17) | |
| 17 | g.37731736T>A | CA398746787 | HNF1B | c.904A>T (p.Asn302Tyr) c.826A>T (p.Asn276Tyr) n.356A>T c.807A>T (p.Gln269His) | |
| 17 | g.37731736T>C | CA398746789 | HNF1B | c.904A>G (p.Asn302Asp) c.826A>G (p.Asn276Asp) n.356A>G c.807A>G (p.Gln269=) | ClinVar |
| 17 | g.37731736T>G | CA398746788 | HNF1B | c.904A>C (p.Asn302His) c.826A>C (p.Asn276His) n.356A>C c.807A>C (p.Gln269His) | |
| 17 | g.37731737T>A | CA398746790 | HNF1B | c.903A>T (p.Ala301=) c.825A>T (p.Ala275=) n.355A>T c.806A>T (p.Gln269Leu) | |
| 17 | g.37731737T>C | CA398746791 | HNF1B | c.903A>G (p.Ala301=) c.825A>G (p.Ala275=) n.355A>G c.806A>G (p.Gln269Arg) | |
| 17 | g.37731737T>G | CA398746792 | HNF1B | c.903A>C (p.Ala301=) c.825A>C (p.Ala275=) n.355A>C c.806A>C (p.Gln269Pro) | |
| 17 | g.37731738G>A | CA398746793 | HNF1B | c.902C>T (p.Ala301Val) c.824C>T (p.Ala275Val) n.354C>T c.805C>T (p.Gln269Ter) | |
| 17 | g.37731738G>C | CA398746794 | HNF1B | c.902C>G (p.Ala301Gly) c.824C>G (p.Ala275Gly) n.354C>G c.805C>G (p.Gln269Glu) | |
| 17 | g.37731738G>T | CA398746795 | HNF1B | c.902C>A (p.Ala301Glu) c.824C>A (p.Ala275Glu) n.354C>A c.805C>A (p.Gln269Lys) | |
| 17 | g.37731739C>A | CA398746798 | HNF1B | c.901G>T (p.Ala301Ser) c.823G>T (p.Ala275Ser) n.353G>T c.804G>T (p.Leu268Phe) | |
| 17 | g.37731739C>G | CA398746797 | HNF1B | c.901G>C (p.Ala301Pro) c.823G>C (p.Ala275Pro) n.353G>C c.804G>C (p.Leu268Phe) | |
| 17 | g.37731739C>T | CA398746796 | HNF1B | c.901G>A (p.Ala301Thr) c.823G>A (p.Ala275Thr) n.353G>A c.804G>A (p.Leu268=) | |
| 17 | g.37731740A>C | CA398746799 | HNF1B | c.900T>G (p.Phe300Leu) c.822T>G (p.Phe274Leu) n.352T>G c.803T>G (p.Leu268Trp) | |
| 17 | g.37731740A>G | CA398746800 | HNF1B | c.900T>C (p.Phe300=) c.822T>C (p.Phe274=) n.352T>C c.803T>C (p.Leu268Ser) | |
| 17 | g.37731740A>T | CA398746801 | HNF1B | c.900T>A (p.Phe300Leu) c.822T>A (p.Phe274Leu) n.352T>A c.803T>A (p.Leu268Ter) | |
| 17 | g.37731741A>C | CA398746802 | HNF1B | c.899T>G (p.Phe300Cys) c.821T>G (p.Phe274Cys) n.351T>G c.802T>G (p.Leu268Val) | |
| 17 | g.37731741A>G | CA398746803 | HNF1B | c.899T>C (p.Phe300Ser) c.821T>C (p.Phe274Ser) n.351T>C c.802T>C (p.Leu268=) | |
| 17 | g.37731741A>T | CA398746804 | HNF1B | c.899T>A (p.Phe300Tyr) c.821T>A (p.Phe274Tyr) n.351T>A c.802T>A (p.Leu268Met) | |
| 17 | g.37731742A>C | CA398746805 | HNF1B | c.898T>G (p.Phe300Val) c.820T>G (p.Phe274Val) n.350T>G c.801T>G (p.Gly267=) | |
| 17 | g.37731742A>G | CA398746807 | HNF1B | c.898T>C (p.Phe300Leu) c.820T>C (p.Phe274Leu) n.350T>C c.801T>C (p.Gly267=) | gnomAD v4 |
| 17 | g.37731742A>T | CA398746806 | HNF1B | c.898T>A (p.Phe300Ile) c.820T>A (p.Phe274Ile) n.350T>A c.801T>A (p.Gly267=) | |
| 17 | g.37731743C>A | CA398746808 | HNF1B | c.897G>T (p.Trp299Cys) c.819G>T (p.Trp273Cys) n.349G>T c.800G>T (p.Gly267Val) | |
| 17 | g.37731743C>G | CA398746809 | HNF1B | c.897G>C (p.Trp299Cys) c.819G>C (p.Trp273Cys) n.349G>C c.800G>C (p.Gly267Ala) | |
| 17 | g.37731743C>T | CA398746810 | HNF1B | c.897G>A (p.Trp299Ter) c.819G>A (p.Trp273Ter) n.349G>A c.800G>A (p.Gly267Asp) | |
| 17 | g.37731744C>A | CA398746811 | HNF1B | c.896G>T (p.Trp299Leu) c.818G>T (p.Trp273Leu) n.348G>T c.799G>T (p.Gly267Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.37731744C>G | CA398746812 | HNF1B | c.896G>C (p.Trp299Ser) c.818G>C (p.Trp273Ser) n.348G>C c.799G>C (p.Gly267Arg) | |
| 17 | g.37731744C>T | CA398746813 | HNF1B | c.896G>A (p.Trp299Ter) c.818G>A (p.Trp273Ter) n.348G>A c.799G>A (p.Gly267Ser) | ClinVar dbSNP |
| 17 | g.37731745A>C | CA398746814 | HNF1B | c.895T>G (p.Trp299Gly) c.817T>G (p.Trp273Gly) n.347T>G c.798T>G (p.Thr266=) | ClinVar |
| 17 | g.37731745A>G | CA398746815 | HNF1B | c.895T>C (p.Trp299Arg) c.817T>C (p.Trp273Arg) n.347T>C c.798T>C (p.Thr266=) | ClinVar |
| 17 | g.37731745A>T | CA398746816 | HNF1B | c.895T>A (p.Trp299Arg) c.817T>A (p.Trp273Arg) n.347T>A c.798T>A (p.Thr266=) | |
| 17 | g.37731746G>A | CA398746817 | HNF1B | c.894C>T (p.Asn298=) c.816C>T (p.Asn272=) n.346C>T c.797C>T (p.Thr266Ile) | |
| 17 | g.37731746G>C | CA398746818 | HNF1B | c.894C>G (p.Asn298Lys) c.816C>G (p.Asn272Lys) n.346C>G c.797C>G (p.Thr266Ser) | |
| 17 | g.37731746G>T | CA398746819 | HNF1B | c.894C>A (p.Asn298Lys) c.816C>A (p.Asn272Lys) n.346C>A c.797C>A (p.Thr266Asn) | |
| 17 | g.37731747T>A | CA398746820 | HNF1B | c.893A>T (p.Asn298Ile) c.815A>T (p.Asn272Ile) n.345A>T c.796A>T (p.Thr266Ser) | |
| 17 | g.37731747T>C | CA398746822 | HNF1B | c.893A>G (p.Asn298Ser) c.815A>G (p.Asn272Ser) n.345A>G c.796A>G (p.Thr266Ala) | |
| 17 | g.37731747T>G | CA398746821 | HNF1B | c.893A>C (p.Asn298Thr) c.815A>C (p.Asn272Thr) n.345A>C c.796A>C (p.Thr266Pro) | |
| 17 | g.37731748T>A | CA398746823 | HNF1B | c.892A>T (p.Asn298Tyr) c.814A>T (p.Asn272Tyr) n.344A>T c.795A>T (p.Thr265=) | |
| 17 | g.37731748T>C | CA398746824 | HNF1B | c.892A>G (p.Asn298Asp) c.814A>G (p.Asn272Asp) n.344A>G c.795A>G (p.Thr265=) | ClinVar dbSNP |
| 17 | g.37731748T>G | CA398746825 | HNF1B | c.892A>C (p.Asn298His) c.814A>C (p.Asn272His) n.344A>C c.795A>C (p.Thr265=) | |
| 17 | g.37731749G>A | CA398746826 | HNF1B | c.891C>T (p.Tyr297=) c.813C>T (p.Tyr271=) n.343C>T c.794C>T (p.Thr265Ile) | gnomAD v4 |
| 17 | g.37731749G>C | CA398746827 | HNF1B | c.891C>G (p.Tyr297Ter) c.813C>G (p.Tyr271Ter) n.343C>G c.794C>G (p.Thr265Arg) | |
| 17 | g.37731749G>T | CA398746828 | HNF1B | c.891C>A (p.Tyr297Ter) c.813C>A (p.Tyr271Ter) n.343C>A c.794C>A (p.Thr265Lys) | |
| 17 | g.37731750T>A | CA398746829 | HNF1B | c.890A>T (p.Tyr297Phe) c.812A>T (p.Tyr271Phe) n.342A>T c.793A>T (p.Thr265Ser) | |
| 17 | g.37731750T>C | CA398746830 | HNF1B | c.890A>G (p.Tyr297Cys) c.812A>G (p.Tyr271Cys) n.342A>G c.793A>G (p.Thr265Ala) | dbSNP |
| 17 | g.37731750T>G | CA398746831 | HNF1B | c.890A>C (p.Tyr297Ser) c.812A>C (p.Tyr271Ser) n.342A>C c.793A>C (p.Thr265Pro) | |
| 17 | g.37731751A>C | CA398746832 | HNF1B | c.889T>G (p.Tyr297Asp) c.811T>G (p.Tyr271Asp) n.341T>G c.792T>G (p.Ser264=) | |
| 17 | g.37731751A>G | CA398746833 | HNF1B | c.889T>C (p.Tyr297His) c.811T>C (p.Tyr271His) n.341T>C c.792T>C (p.Ser264=) | |
| 17 | g.37731751A>T | CA398746834 | HNF1B | c.889T>A (p.Tyr297Asn) c.811T>A (p.Tyr271Asn) n.341T>A c.792T>A (p.Ser264=) | |
| 17 | g.37731752G>A | CA398746837 | HNF1B | c.888C>T (p.Val296=) c.810C>T (p.Val270=) n.340C>T c.791C>T (p.Ser264Phe) | |
| 17 | g.37731752G>C | CA398746836 | HNF1B | c.888C>G (p.Val296=) c.810C>G (p.Val270=) n.340C>G c.791C>G (p.Ser264Cys) | |
| 17 | g.37731752G>T | CA398746835 | HNF1B | c.888C>A (p.Val296=) c.810C>A (p.Val270=) n.340C>A c.791C>A (p.Ser264Tyr) | |
| 17 | g.37731752_37731758del | CA2695225788 | HNF1B | c.882_888del (p.Arg295ThrfsTer?) c.804_810del (p.Arg269ThrfsTer?) n.334_340del c.785_791del (p.Ser262LeufsTer23) | |
| 17 | g.37731753A>C | CA398746838 | HNF1B | c.887T>G (p.Val296Gly) c.809T>G (p.Val270Gly) n.339T>G c.790T>G (p.Ser264Ala) | |
| 17 | g.37731753A>G | CA398746839 | HNF1B | c.887T>C (p.Val296Ala) c.809T>C (p.Val270Ala) n.339T>C c.790T>C (p.Ser264Pro) | ClinVar |
| 17 | g.37731753A>T | CA398746840 | HNF1B | c.887T>A (p.Val296Asp) c.809T>A (p.Val270Asp) n.339T>A c.790T>A (p.Ser264Thr) | |
| 17 | g.37731754C>A | CA398746841 | HNF1B | c.886G>T (p.Val296Phe) c.808G>T (p.Val270Phe) n.338G>T c.789G>T (p.Val263=) | ClinVar |
| 17 | g.37731754C>G | CA398746842 | HNF1B | c.886G>C (p.Val296Leu) c.808G>C (p.Val270Leu) n.338G>C c.789G>C (p.Val263=) | |
| 17 | g.37731754C>T | CA398746843 | HNF1B | c.886G>A (p.Val296Ile) c.808G>A (p.Val270Ile) n.338G>A c.789G>A (p.Val263=) | |
| 17 | g.37731755A>C | CA398746844 | HNF1B | c.885T>G (p.Arg295=) c.807T>G (p.Arg269=) n.337T>G c.788T>G (p.Val263Gly) | |
| 17 | g.37731755A>G | CA398746845 | HNF1B | c.885T>C (p.Arg295=) c.807T>C (p.Arg269=) n.337T>C c.788T>C (p.Val263Ala) | dbSNP gnomAD v2 |
| 17 | g.37731755A>T | CA398746846 | HNF1B | c.885T>A (p.Arg295=) c.807T>A (p.Arg269=) n.337T>A c.788T>A (p.Val263Glu) | |
| 17 | g.37731756C>A | CA398746847 | HNF1B | c.884G>T (p.Arg295Leu) c.806G>T (p.Arg269Leu) n.336G>T c.787G>T (p.Val263Leu) | |
| 17 | g.37731756C>G | CA398746848 | HNF1B | c.884G>C (p.Arg295Pro) c.806G>C (p.Arg269Pro) n.336G>C c.787G>C (p.Val263Leu) | ClinVar |
| 17 | g.37731756C>T | CA10605981 | HNF1B | c.884G>A (p.Arg295His) c.806G>A (p.Arg269His) n.336G>A c.787G>A (p.Val263Met) | ClinVar dbSNP |
| 17 | g.37731757G>A | CA398746849 | HNF1B | c.883C>T (p.Arg295Cys) c.805C>T (p.Arg269Cys) n.335C>T c.786C>T (p.Ser262=) | ClinVar gnomAD v4 |
| 17 | g.37731757G>C | CA398746851 | HNF1B | c.883C>G (p.Arg295Gly) c.805C>G (p.Arg269Gly) n.335C>G c.786C>G (p.Ser262=) | |
| 17 | g.37731757G>T | CA398746850 | HNF1B | c.883C>A (p.Arg295Ser) c.805C>A (p.Arg269Ser) n.335C>A c.786C>A (p.Ser262=) | |
| 17 | g.37731758G>A | CA8518970 | HNF1B | c.882C>T (p.Val294=) c.804C>T (p.Val268=) n.334C>T c.785C>T (p.Ser262Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.37731758G>C | CA398746853 | HNF1B | c.882C>G (p.Val294=) c.804C>G (p.Val268=) n.334C>G c.785C>G (p.Ser262Cys) | dbSNP gnomAD v4 |
| 17 | g.37731758G>T | CA398746852 | HNF1B | c.882C>A (p.Val294=) c.804C>A (p.Val268=) n.334C>A c.785C>A (p.Ser262Tyr) | |
| 17 | g.37731759A>C | CA398746854 | HNF1B | c.881T>G (p.Val294Gly) c.803T>G (p.Val268Gly) n.333T>G c.784T>G (p.Ser262Ala) | |
| 17 | g.37731759A>G | CA398746855 | HNF1B | c.881T>C (p.Val294Ala) c.803T>C (p.Val268Ala) n.333T>C c.784T>C (p.Ser262Pro) | |
| 17 | g.37731759A>T | CA398746856 | HNF1B | c.881T>A (p.Val294Asp) c.803T>A (p.Val268Asp) n.333T>A c.784T>A (p.Ser262Thr) | |
| 17 | g.37731760C>A | CA398746857 | HNF1B | c.880G>T (p.Val294Phe) c.802G>T (p.Val268Phe) n.332G>T c.783G>T (p.Arg261Ser) | |
| 17 | g.37731760C>G | CA398746858 | HNF1B | c.880G>C (p.Val294Leu) c.802G>C (p.Val268Leu) n.332G>C c.783G>C (p.Arg261Ser) | |
| 17 | g.37731760C>T | CA398746859 | HNF1B | c.880G>A (p.Val294Ile) c.802G>A (p.Val268Ile) n.332G>A c.783G>A (p.Arg261=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.37731761C>A | CA398746860 | HNF1B | c.879G>T (p.Glu293Asp) c.801G>T (p.Glu267Asp) n.331G>T c.782G>T (p.Arg261Met) | |
| 17 | g.37731761C>G | CA398746861 | HNF1B | c.879G>C (p.Glu293Asp) c.801G>C (p.Glu267Asp) n.331G>C c.782G>C (p.Arg261Thr) | |
| 17 | g.37731761C>T | CA8518971 | HNF1B | c.879G>A (p.Glu293=) c.801G>A (p.Glu267=) n.331G>A c.782G>A (p.Arg261Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.37731762T>A | CA398746863 | HNF1B | c.878A>T (p.Glu293Val) c.800A>T (p.Glu267Val) n.330A>T c.781A>T (p.Arg261Trp) | |
| 17 | g.37731762T>C | CA398746865 | HNF1B | c.878A>G (p.Glu293Gly) c.800A>G (p.Glu267Gly) n.330A>G c.781A>G (p.Arg261Gly) | |
| 17 | g.37731762T>G | CA398746867 | HNF1B | c.878A>C (p.Glu293Ala) c.800A>C (p.Glu267Ala) n.330A>C c.781A>C (p.Arg261=) | |
| 17 | g.37731763C>A | CA398746869 | HNF1B | c.877G>T (p.Glu293Ter) c.799G>T (p.Glu267Ter) n.329G>T c.780G>T (p.Leu260=) | |
| 17 | g.37731763C>G | CA398746872 | HNF1B | c.877G>C (p.Glu293Gln) c.799G>C (p.Glu267Gln) n.329G>C c.780G>C (p.Leu260=) | |
| 17 | g.37731763C>T | CA398746871 | HNF1B | c.877G>A (p.Glu293Lys) c.799G>A (p.Glu267Lys) n.329G>A c.780G>A (p.Leu260=) | |
| 17 | g.37731764A>C | CA398746874 | HNF1B | c.876T>G (p.Thr292=) c.798T>G (p.Thr266=) n.328T>G c.779T>G (p.Leu260Arg) | dbSNP gnomAD v2 |
| 17 | g.37731764A>G | CA398746875 | HNF1B | c.876T>C (p.Thr292=) c.798T>C (p.Thr266=) n.328T>C c.779T>C (p.Leu260Pro) | |
| 17 | g.37731764A>T | CA398746877 | HNF1B | c.876T>A (p.Thr292=) c.798T>A (p.Thr266=) n.328T>A c.779T>A (p.Leu260Gln) | |
| 17 | g.37731765G>A | CA398746879 | HNF1B | c.875C>T (p.Thr292Ile) c.797C>T (p.Thr266Ile) n.327C>T c.778C>T (p.Leu260=) | ClinVar dbSNP |
| 17 | g.37731765G>C | CA398746881 | HNF1B | c.875C>G (p.Thr292Ser) c.797C>G (p.Thr266Ser) n.327C>G c.778C>G (p.Leu260Val) | |
| 17 | g.37731765G>T | CA398746882 | HNF1B | c.875C>A (p.Thr292Asn) c.797C>A (p.Thr266Asn) n.327C>A c.778C>A (p.Leu260Met) | |
| 17 | g.37731766T>A | CA398746884 | HNF1B | c.874A>T (p.Thr292Ser) c.796A>T (p.Thr266Ser) n.326A>T c.777A>T (p.Ser259=) | |
| 17 | g.37731766T>C | CA398746885 | HNF1B | c.874A>G (p.Thr292Ala) c.796A>G (p.Thr266Ala) n.326A>G c.777A>G (p.Ser259=) | |
| 17 | g.37731766T>G | CA398746886 | HNF1B | c.874A>C (p.Thr292Pro) c.796A>C (p.Thr266Pro) n.326A>C c.777A>C (p.Ser259=) | |
| 17 | g.37731767G>A | CA398746891 | HNF1B | c.873C>T (p.Val291=) c.795C>T (p.Val265=) n.325C>T c.776C>T (p.Ser259Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.37731767G>C | CA398746890 | HNF1B | c.873C>G (p.Val291=) c.795C>G (p.Val265=) n.325C>G c.776C>G (p.Ser259Ter) | |
| 17 | g.37731767G>T | CA398746888 | HNF1B | c.873C>A (p.Val291=) c.795C>A (p.Val265=) n.325C>A c.776C>A (p.Ser259Ter) | |
| 17 | g.37731768A>C | CA398746892 | HNF1B | c.872T>G (p.Val291Gly) c.794T>G (p.Val265Gly) n.324T>G c.775T>G (p.Ser259Ala) | |
| 17 | g.37731768A>G | CA398746894 | HNF1B | c.872T>C (p.Val291Ala) c.794T>C (p.Val265Ala) n.324T>C c.775T>C (p.Ser259Pro) | gnomAD v4 |
| 17 | g.37731768A>T | CA398746896 | HNF1B | c.872T>A (p.Val291Asp) c.794T>A (p.Val265Asp) n.324T>A c.775T>A (p.Ser259Thr) | |
| 17 | g.37731769C>A | CA398746897 | HNF1B | c.871G>T (p.Val291Phe) c.793G>T (p.Val265Phe) n.323G>T c.774G>T (p.Trp258Cys) | |
| 17 | g.37731769C>G | CA398746899 | HNF1B | c.871G>C (p.Val291Leu) c.793G>C (p.Val265Leu) n.323G>C c.774G>C (p.Trp258Cys) | |
| 17 | g.37731769C>T | CA398746900 | HNF1B | c.871G>A (p.Val291Ile) c.793G>A (p.Val265Ile) n.323G>A c.774G>A (p.Trp258Ter) | |
| 17 | g.37731770C>A | CA398746902 | HNF1B | c.870G>T (p.Leu290Phe) c.792G>T (p.Leu264Phe) n.322G>T c.773G>T (p.Trp258Leu) | gnomAD v4 |
| 17 | g.37731770C>G | CA398746903 | HNF1B | c.870G>C (p.Leu290Phe) c.792G>C (p.Leu264Phe) n.322G>C c.773G>C (p.Trp258Ser) | |
| 17 | g.37731770C>T | CA398746905 | HNF1B | c.870G>A (p.Leu290=) c.792G>A (p.Leu264=) n.322G>A c.773G>A (p.Trp258Ter) | |
| 17 | g.37731771A>C | CA398746906 | HNF1B | c.869T>G (p.Leu290Trp) c.791T>G (p.Leu264Trp) n.321T>G c.772T>G (p.Trp258Gly) | |
| 17 | g.37731771A>G | CA398746908 | HNF1B | c.869T>C (p.Leu290Ser) c.791T>C (p.Leu264Ser) n.321T>C c.772T>C (p.Trp258Arg) | |
| 17 | g.37731771A>T | CA398746910 | HNF1B | c.869T>A (p.Leu290Ter) c.791T>A (p.Leu264Ter) n.321T>A c.772T>A (p.Trp258Arg) | ClinVar |
| 17 | g.37731772A>C | CA398746913 | HNF1B | c.868T>G (p.Leu290Val) c.790T>G (p.Leu264Val) n.320T>G c.771T>G (p.Thr257=) | |
| 17 | g.37731772A>G | CA499602699 | HNF1B | c.868T>C (p.Leu290=) c.790T>C (p.Leu264=) n.320T>C c.771T>C (p.Thr257=) | gnomAD v4 |
| 17 | g.37731772A>T | CA398746911 | HNF1B | c.868T>A (p.Leu290Met) c.790T>A (p.Leu264Met) n.320T>A c.771T>A (p.Thr257=) | |
| 17 | g.37731773G>A | CA398746915 | HNF1B | c.867C>T (p.Asn289=) c.789C>T (p.Asn263=) n.319C>T c.770C>T (p.Thr257Ile) | |
| 17 | g.37731773G>C | CA398746917 | HNF1B | c.867C>G (p.Asn289Lys) c.789C>G (p.Asn263Lys) n.319C>G c.770C>G (p.Thr257Ser) | |
| 17 | g.37731773G>T | CA398746918 | HNF1B | c.867C>A (p.Asn289Lys) c.789C>A (p.Asn263Lys) n.319C>A c.770C>A (p.Thr257Asn) | |
| 17 | g.37731774T>A | CA398746920 | HNF1B | c.866A>T (p.Asn289Ile) c.788A>T (p.Asn263Ile) n.318A>T c.769A>T (p.Thr257Ser) | gnomAD v4 |
| 17 | g.37731774T>C | CA398746922 | HNF1B | c.866A>G (p.Asn289Ser) c.788A>G (p.Asn263Ser) n.318A>G c.769A>G (p.Thr257Ala) | |
| 17 | g.37731774T>G | CA398746924 | HNF1B | c.866A>C (p.Asn289Thr) c.788A>C (p.Asn263Thr) n.318A>C c.769A>C (p.Thr257Pro) | |
| 17 | g.37731775T>A | CA398746925 | HNF1B | c.865A>T (p.Asn289Tyr) c.787A>T (p.Asn263Tyr) n.317A>T c.768A>T (p.Pro256=) | |
| 17 | g.37731775T>C | CA398746927 | HNF1B | c.865A>G (p.Asn289Asp) c.787A>G (p.Asn263Asp) n.317A>G c.768A>G (p.Pro256=) | ClinVar |
| 17 | g.37731775T>G | CA398746929 | HNF1B | c.865A>C (p.Asn289His) c.787A>C (p.Asn263His) n.317A>C c.768A>C (p.Pro256=) | ClinVar |
| 17 | g.37731776G>A | CA398746930 | HNF1B | c.864C>T (p.Ser288=) c.786C>T (p.Ser262=) n.316C>T c.767C>T (p.Pro256Leu) | |
| 17 | g.37731776G>C | CA398746932 | HNF1B | c.864C>G (p.Ser288=) c.786C>G (p.Ser262=) n.316C>G c.767C>G (p.Pro256Arg) | |
| 17 | g.37731776G>T | CA398746934 | HNF1B | c.864C>A (p.Ser288=) c.786C>A (p.Ser262=) n.316C>A c.767C>A (p.Pro256Gln) | |
| 17 | g.37731777G>A | CA398746939 | HNF1B | c.863C>T (p.Ser288Phe) c.785C>T (p.Ser262Phe) n.315C>T c.766C>T (p.Pro256Ser) | gnomAD v4 |
| 17 | g.37731777G>C | CA398746937 | HNF1B | c.863C>G (p.Ser288Cys) c.785C>G (p.Ser262Cys) n.315C>G c.766C>G (p.Pro256Ala) | |
| 17 | g.37731777G>T | CA398746936 | HNF1B | c.863C>A (p.Ser288Tyr) c.785C>A (p.Ser262Tyr) n.315C>A c.766C>A (p.Pro256Thr) | |
| 17 | g.37731778A>C | CA398746941 | HNF1B | c.862T>G (p.Ser288Ala) c.784T>G (p.Ser262Ala) n.314T>G c.765T>G (p.Ala255=) | |
| 17 | g.37731778A>G | CA398746943 | HNF1B | c.862T>C (p.Ser288Pro) c.784T>C (p.Ser262Pro) n.314T>C c.765T>C (p.Ala255=) | |
| 17 | g.37731778A>T | CA398746942 | HNF1B | c.862T>A (p.Ser288Thr) c.784T>A (p.Ser262Thr) n.314T>A c.765T>A (p.Ala255=) | |
| 17 | g.37731779G>A | CA398746944 | HNF1B | c.861C>T (p.Gly287=) c.783C>T (p.Gly261=) n.313C>T c.764C>T (p.Ala255Val) | gnomAD v4 |
| 17 | g.37731779G>C | CA398746948 | HNF1B | c.861C>G (p.Gly287=) c.783C>G (p.Gly261=) n.313C>G c.764C>G (p.Ala255Gly) | |
| 17 | g.37731779G>T | CA398746946 | HNF1B | c.861C>A (p.Gly287=) c.783C>A (p.Gly261=) n.313C>A c.764C>A (p.Ala255Asp) | |
| 17 | g.37731780C>A | CA398746950 | HNF1B | c.860G>T (p.Gly287Val) c.782G>T (p.Gly261Val) n.312G>T c.763G>T (p.Ala255Ser) | ClinVar |
| 17 | g.37731780C>G | CA398746951 | HNF1B | c.860G>C (p.Gly287Ala) c.782G>C (p.Gly261Ala) n.312G>C c.763G>C (p.Ala255Pro) | gnomAD v4 |
| 17 | g.37731780C>T | CA398746953 | HNF1B | c.860G>A (p.Gly287Asp) c.782G>A (p.Gly261Asp) n.312G>A c.763G>A (p.Ala255Thr) | dbSNP |
| 17 | g.37731781C>A | CA398746955 | HNF1B | c.859G>T (p.Gly287Cys) c.781G>T (p.Gly261Cys) n.311G>T c.762G>T (p.Trp254Cys) | |
| 17 | g.37731781C>G | CA398746957 | HNF1B | c.859G>C (p.Gly287Arg) c.781G>C (p.Gly261Arg) n.311G>C c.762G>C (p.Trp254Cys) | |
| 17 | g.37731781C>T | CA398746958 | HNF1B | c.859G>A (p.Gly287Ser) c.781G>A (p.Gly261Ser) n.311G>A c.762G>A (p.Trp254Ter) | |
| 17 | g.37731782C>A | CA398746960 | HNF1B | c.858G>T (p.Leu286=) c.780G>T (p.Leu260=) n.310G>T c.761G>T (p.Trp254Leu) | |
| 17 | g.37731782C>G | CA398746961 | HNF1B | c.858G>C (p.Leu286=) c.780G>C (p.Leu260=) n.310G>C c.761G>C (p.Trp254Ser) | |
| 17 | g.37731782C>T | CA8518972 | HNF1B | c.858G>A (p.Leu286=) c.780G>A (p.Leu260=) n.310G>A c.761G>A (p.Trp254Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.37731783A>C | CA398746967 | HNF1B | c.857T>G (p.Leu286Arg) c.779T>G (p.Leu260Arg) n.309T>G c.760T>G (p.Trp254Gly) | |
| 17 | g.37731783A>G | CA398746965 | HNF1B | c.857T>C (p.Leu286Pro) c.779T>C (p.Leu260Pro) n.309T>C c.760T>C (p.Trp254Arg) | ClinVar dbSNP |
| 17 | g.37731783A>T | CA398746963 | HNF1B | c.857T>A (p.Leu286Gln) c.779T>A (p.Leu260Gln) n.309T>A c.760T>A (p.Trp254Arg) | |
| 17 | g.37731784G>A | CA499602700 | HNF1B | c.856C>T (p.Leu286=) c.778C>T (p.Leu260=) n.308C>T c.759C>T (p.Ala253=) | |
| 17 | g.37731784G>C | CA398746968 | HNF1B | c.856C>G (p.Leu286Val) c.778C>G (p.Leu260Val) n.308C>G c.759C>G (p.Ala253=) | ClinVar |
| 17 | g.37731784G>T | CA398746969 | HNF1B | c.856C>A (p.Leu286Met) c.778C>A (p.Leu260Met) n.308C>A c.759C>A (p.Ala253=) | |
| 17 | g.37731785G>A | CA398746971 | HNF1B | c.855C>T (p.Gly285=) c.777C>T (p.Gly259=) n.307C>T c.758C>T (p.Ala253Val) | ClinVar dbSNP |
| 17 | g.37731785G>C | CA398746972 | HNF1B | c.855C>G (p.Gly285=) c.777C>G (p.Gly259=) n.307C>G c.758C>G (p.Ala253Gly) | |
| 17 | g.37731785G>T | CA398746974 | HNF1B | c.855C>A (p.Gly285=) c.777C>A (p.Gly259=) n.307C>A c.758C>A (p.Ala253Asp) | |
| 17 | g.37731786C>A | CA398746976 | HNF1B | c.854G>T (p.Gly285Val) c.776G>T (p.Gly259Val) n.306G>T c.757G>T (p.Ala253Ser) | |
| 17 | g.37731786C>G | CA398746978 | HNF1B | c.854G>C (p.Gly285Ala) c.776G>C (p.Gly259Ala) n.306G>C c.757G>C (p.Ala253Pro) | gnomAD v4 |
| 17 | g.37731786C>T | CA398746979 | HNF1B | c.854G>A (p.Gly285Asp) c.776G>A (p.Gly259Asp) n.306G>A c.757G>A (p.Ala253Thr) | ClinVar |
| 17 | g.37731787C>A | CA398746981 | HNF1B | c.853G>T (p.Gly285Cys) c.775G>T (p.Gly259Cys) n.305G>T c.756G>T (p.Thr252=) | |
| 17 | g.37731787C>G | CA398746983 | HNF1B | c.853G>C (p.Gly285Arg) c.775G>C (p.Gly259Arg) n.305G>C c.756G>C (p.Thr252=) | |
| 17 | g.37731787C>T | CA290282109 | HNF1B | c.853G>A (p.Gly285Ser) c.775G>A (p.Gly259Ser) n.305G>A c.756G>A (p.Thr252=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.37731788G>A | CA8518973 | HNF1B | c.852C>T (p.His284=) c.774C>T (p.His258=) n.304C>T c.755C>T (p.Thr252Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.37731788G>C | CA398746985 | HNF1B | c.852C>G (p.His284Gln) c.774C>G (p.His258Gln) n.304C>G c.755C>G (p.Thr252Arg) | |
| 17 | g.37731788G>T | CA398746984 | HNF1B | c.852C>A (p.His284Gln) c.774C>A (p.His258Gln) n.304C>A c.755C>A (p.Thr252Lys) | gnomAD v4 |
| 17 | g.37731789T>A | CA398746987 | HNF1B | c.851A>T (p.His284Leu) c.773A>T (p.His258Leu) n.303A>T c.754A>T (p.Thr252Ser) | |
| 17 | g.37731789T>C | CA398746988 | HNF1B | c.851A>G (p.His284Arg) c.773A>G (p.His258Arg) n.303A>G c.754A>G (p.Thr252Ala) | |
| 17 | g.37731789T>G | CA398746991 | HNF1B | c.851A>C (p.His284Pro) c.773A>C (p.His258Pro) n.303A>C c.754A>C (p.Thr252Pro) | |
| 17 | g.37731790G>A | CA398746992 | HNF1B | c.850C>T (p.His284Tyr) c.772C>T (p.His258Tyr) n.302C>T c.753C>T (p.Pro251=) | |
| 17 | g.37731790G>C | CA398746994 | HNF1B | c.850C>G (p.His284Asp) c.772C>G (p.His258Asp) n.302C>G c.753C>G (p.Pro251=) | |
| 17 | g.37731790G>T | CA398746995 | HNF1B | c.850C>A (p.His284Asn) c.772C>A (p.His258Asn) n.302C>A c.753C>A (p.Pro251=) | |
| 17 | g.37731792del | CA913190774 | HNF1B | c.850del (p.His284ThrfsTer?) c.772del (p.His258ThrfsTer?) n.302del c.753del (p.Thr252ArgfsTer9) | ClinVar |
| 17 | g.37731791G>A | CA398746997 | HNF1B | c.849C>T (p.Ala283=) c.771C>T (p.Ala257=) n.301C>T c.752C>T (p.Pro251Leu) | |
| 17 | g.37731791G>C | CA398746999 | HNF1B | c.849C>G (p.Ala283=) c.771C>G (p.Ala257=) n.301C>G c.752C>G (p.Pro251Arg) | |
| 17 | g.37731791G>T | CA398747000 | HNF1B | c.849C>A (p.Ala283=) c.771C>A (p.Ala257=) n.301C>A c.752C>A (p.Pro251His) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.37731792G>A | CA398747001 | HNF1B | c.848C>T (p.Ala283Val) c.770C>T (p.Ala257Val) n.300C>T c.751C>T (p.Pro251Ser) | |
| 17 | g.37731792G>C | CA398747002 | HNF1B | c.848C>G (p.Ala283Gly) c.770C>G (p.Ala257Gly) n.300C>G c.751C>G (p.Pro251Ala) | |
| 17 | g.37731792G>T | CA398747003 | HNF1B | c.848C>A (p.Ala283Asp) c.770C>A (p.Ala257Asp) n.300C>A c.751C>A (p.Pro251Thr) | |
| 17 | g.37731793C>A | CA398747012 | HNF1B | c.847G>T (p.Ala283Ser) c.769G>T (p.Ala257Ser) n.299G>T c.750G>T (p.Lys250Asn) | |
| 17 | g.37731793C>G | CA398747010 | HNF1B | c.847G>C (p.Ala283Pro) c.769G>C (p.Ala257Pro) n.299G>C c.750G>C (p.Lys250Asn) | |
| 17 | g.37731793C>T | CA398747011 | HNF1B | c.847G>A (p.Ala283Thr) c.769G>A (p.Ala257Thr) n.299G>A c.750G>A (p.Lys250=) | |
| 17 | g.37731794T>A | CA398747013 | HNF1B | c.846A>T (p.Lys282Asn) c.768A>T (p.Lys256Asn) n.298A>T c.749A>T (p.Lys250Met) | |
| 17 | g.37731794T>C | CA398747014 | HNF1B | c.846A>G (p.Lys282=) c.768A>G (p.Lys256=) n.298A>G c.749A>G (p.Lys250Arg) | |
| 17 | g.37731794T>G | CA398747015 | HNF1B | c.846A>C (p.Lys282Asn) c.768A>C (p.Lys256Asn) n.298A>C c.749A>C (p.Lys250Thr) | |
| 17 | g.37731795T>A | CA398747016 | HNF1B | c.845A>T (p.Lys282Ile) c.767A>T (p.Lys256Ile) n.297A>T c.748A>T (p.Lys250Ter) | |
| 17 | g.37731795T>C | CA398747017 | HNF1B | c.845A>G (p.Lys282Arg) c.767A>G (p.Lys256Arg) n.297A>G c.748A>G (p.Lys250Glu) | |
| 17 | g.37731795T>G | CA398747018 | HNF1B | c.845A>C (p.Lys282Thr) c.767A>C (p.Lys256Thr) n.297A>C c.748A>C (p.Lys250Gln) | |
| 17 | g.37731796T>A | CA398747019 | HNF1B | c.844A>T (p.Lys282Ter) c.766A>T (p.Lys256Ter) n.296A>T c.747A>T (p.Pro249=) | |
| 17 | g.37731796T>C | CA398747020 | HNF1B | c.844A>G (p.Lys282Glu) c.766A>G (p.Lys256Glu) n.296A>G c.747A>G (p.Pro249=) | |
| 17 | g.37731796T>G | CA398747021 | HNF1B | c.844A>C (p.Lys282Gln) c.766A>C (p.Lys256Gln) n.296A>C c.747A>C (p.Pro249=) | |
| 17 | g.37731796_37731800del | CA2695225789 | HNF1B | c.840_844del (p.Lys282ProfsTer10) c.762_766del (p.Lys256ProfsTer10) n.292_296del c.743_747del (p.Pro248GlnfsTer?) | |
| 17 | g.37731797G>A | CA398747022 | HNF1B | c.843C>T (p.Ser281=) c.765C>T (p.Ser255=) n.295C>T c.746C>T (p.Pro249Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.37731797G>C | CA398747023 | HNF1B | c.843C>G (p.Ser281=) c.765C>G (p.Ser255=) n.295C>G c.746C>G (p.Pro249Arg) | |
| 17 | g.37731797G>T | CA398747024 | HNF1B | c.843C>A (p.Ser281=) c.765C>A (p.Ser255=) n.295C>A c.746C>A (p.Pro249Gln) | |
| 17 | g.37731798G>A | CA398747026 | HNF1B | c.842C>T (p.Ser281Phe) c.764C>T (p.Ser255Phe) n.294C>T c.745C>T (p.Pro249Ser) | |
| 17 | g.37731798G>C | CA398747027 | HNF1B | c.842C>G (p.Ser281Cys) c.764C>G (p.Ser255Cys) n.294C>G c.745C>G (p.Pro249Ala) | |
| 17 | g.37731798G>T | CA398747025 | HNF1B | c.842C>A (p.Ser281Tyr) c.764C>A (p.Ser255Tyr) n.294C>A c.745C>A (p.Pro249Thr) | |
| 17 | g.37731799A>C | CA398747030 | HNF1B | c.841T>G (p.Ser281Ala) c.763T>G (p.Ser255Ala) n.293T>G c.744T>G (p.Pro248=) | gnomAD v4 |
| 17 | g.37731799A>G | CA398747028 | HNF1B | c.841T>C (p.Ser281Pro) c.763T>C (p.Ser255Pro) n.293T>C c.744T>C (p.Pro248=) | dbSNP |
| 17 | g.37731799A>T | CA398747029 | HNF1B | c.841T>A (p.Ser281Thr) c.763T>A (p.Ser255Thr) n.293T>A c.744T>A (p.Pro248=) | |
| 17 | g.37731800G>A | CA398747031 | HNF1B | c.840C>T (p.Pro280=) c.762C>T (p.Pro254=) n.292C>T c.743C>T (p.Pro248Leu) | |
| 17 | g.37731800G>C | CA398747032 | HNF1B | c.840C>G (p.Pro280=) c.762C>G (p.Pro254=) n.292C>G c.743C>G (p.Pro248Arg) | dbSNP |
| 17 | g.37731800G>T | CA398747033 | HNF1B | c.840C>A (p.Pro280=) c.762C>A (p.Pro254=) n.292C>A c.743C>A (p.Pro248His) | |
| 17 | g.37731804dup | CA913190776 | HNF1B | c.840dup (p.Ser281LeufsTer13) c.762dup (p.Ser255LeufsTer13) n.292dup c.743dup (p.Pro249SerfsTer?) | ClinVar dbSNP |
| 17 | g.37731804del | CA913190775 | HNF1B | c.840del (p.Ser281ProfsTer?) c.762del (p.Ser255ProfsTer?) n.292del c.743del (p.Pro248LeufsTer13) | ClinVar |
| 17 | g.37731801G>A | CA398747034 | HNF1B | c.839C>T (p.Pro280Leu) c.761C>T (p.Pro254Leu) n.291C>T c.742C>T (p.Pro248Ser) | |
| 17 | g.37731801G>C | CA398747035 | HNF1B | c.839C>G (p.Pro280Arg) c.761C>G (p.Pro254Arg) n.291C>G c.742C>G (p.Pro248Ala) | |
| 17 | g.37731801G>T | CA398747036 | HNF1B | c.839C>A (p.Pro280His) c.761C>A (p.Pro254His) n.291C>A c.742C>A (p.Pro248Thr) | |
| 17 | g.37731802G>A | CA398747037 | HNF1B | c.838C>T (p.Pro280Ser) c.760C>T (p.Pro254Ser) n.290C>T c.741C>T (p.Pro247=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.37731802G>C | CA398747038 | HNF1B | c.838C>G (p.Pro280Ala) c.760C>G (p.Pro254Ala) n.290C>G c.741C>G (p.Pro247=) | |
| 17 | g.37731802G>T | CA398747039 | HNF1B | c.838C>A (p.Pro280Thr) c.760C>A (p.Pro254Thr) n.290C>A c.741C>A (p.Pro247=) | |
| 17 | g.37731803G>A | CA398747041 | HNF1B | c.837C>T (p.Ser279=) c.759C>T (p.Ser253=) n.289C>T c.740C>T (p.Pro247Leu) | gnomAD v4 |
| 17 | g.37731803G>C | CA398747040 | HNF1B | c.837C>G (p.Ser279=) c.759C>G (p.Ser253=) n.289C>G c.740C>G (p.Pro247Arg) | |
| 17 | g.37731803G>T | CA290282128 | HNF1B | c.837C>A (p.Ser279=) c.759C>A (p.Ser253=) n.289C>A c.740C>A (p.Pro247His) | dbSNP |
| 17 | g.37731804_37731814del | CA2825002499 | HNF1B | c.827_837del (p.Arg276ProfsTer14) c.749_759del (p.Arg250ProfsTer14) n.279_289del c.730_740del (p.Glu244ProfsTer?) | ClinVar |
| 17 | g.37731803_37731804insT | CA2637448783 | HNF1B | c.836_837insA (p.Ser281LeufsTer13) c.758_759insA (p.Ser255LeufsTer13) n.288_289insA c.739_740insA (p.Pro247HisfsTer?) | gnomAD v4 |
| 17 | g.37731804G>A | CA398747042 | HNF1B | c.836C>T (p.Ser279Phe) c.758C>T (p.Ser253Phe) n.288C>T c.739C>T (p.Pro247Ser) | |
| 17 | g.37731804G>C | CA398747043 | HNF1B | c.836C>G (p.Ser279Cys) c.758C>G (p.Ser253Cys) n.288C>G c.739C>G (p.Pro247Ala) | |
| 17 | g.37731804G>T | CA398747044 | HNF1B | c.836C>A (p.Ser279Tyr) c.758C>A (p.Ser253Tyr) n.288C>A c.739C>A (p.Pro247Thr) | |
| 17 | g.37731805A>C | CA8518974 | HNF1B | c.835T>G (p.Ser279Ala) c.757T>G (p.Ser253Ala) n.287T>G c.738T>G (p.Cys246Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.37731805A>G | CA398747045 | HNF1B | c.835T>C (p.Ser279Pro) c.757T>C (p.Ser253Pro) n.287T>C c.738T>C (p.Cys246=) | |
| 17 | g.37731805A>T | CA398747046 | HNF1B | c.835T>A (p.Ser279Thr) c.757T>A (p.Ser253Thr) n.287T>A c.738T>A (p.Cys246Ter) | gnomAD v4 |
| 17 | g.37731806C>A | CA398747047 | HNF1B | c.834G>T (p.Val278=) c.756G>T (p.Val252=) n.286G>T c.737G>T (p.Cys246Phe) | |
| 17 | g.37731806C>G | CA398747048 | HNF1B | c.834G>C (p.Val278=) c.756G>C (p.Val252=) n.286G>C c.737G>C (p.Cys246Ser) | |
| 17 | g.37731806C>T | CA8518975 | HNF1B | c.834G>A (p.Val278=) c.756G>A (p.Val252=) n.286G>A c.737G>A (p.Cys246Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.37731807del | CA2637448784 | HNF1B | c.833del (p.Val278GlyfsTer?) c.755del (p.Val252GlyfsTer?) n.285del c.736del (p.Cys246ValfsTer15) | gnomAD v4 |
| 17 | g.37731807A>C | CA398747049 | HNF1B | c.833T>G (p.Val278Gly) c.755T>G (p.Val252Gly) n.285T>G c.736T>G (p.Cys246Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.37731807A>G | CA398747050 | HNF1B | c.833T>C (p.Val278Ala) c.755T>C (p.Val252Ala) n.285T>C c.736T>C (p.Cys246Arg) | |
| 17 | g.37731807A>T | CA398747051 | HNF1B | c.833T>A (p.Val278Glu) c.755T>A (p.Val252Glu) n.285T>A c.736T>A (p.Cys246Ser) | |
| 17 | g.37731808C>A | CA398747053 | HNF1B | c.832G>T (p.Val278Leu) c.754G>T (p.Val252Leu) n.284G>T c.735G>T (p.Gly245=) | dbSNP |
| 17 | g.37731808C>G | CA398747054 | HNF1B | c.832G>C (p.Val278Leu) c.754G>C (p.Val252Leu) n.284G>C c.735G>C (p.Gly245=) | |
| 17 | g.37731808C>T | CA398747052 | HNF1B | c.832G>A (p.Val278Met) c.754G>A (p.Val252Met) n.284G>A c.735G>A (p.Gly245=) | |
| 17 | g.37731809C>A | CA398747055 | HNF1B | c.831G>T (p.Gly277=) c.753G>T (p.Gly251=) n.283G>T c.734G>T (p.Gly245Val) | |
| 17 | g.37731809C>G | CA8518977 | HNF1B | c.831G>C (p.Gly277=) c.753G>C (p.Gly251=) n.283G>C c.734G>C (p.Gly245Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.37731809C>T | CA8518976 | HNF1B | c.831G>A (p.Gly277=) c.753G>A (p.Gly251=) n.283G>A c.734G>A (p.Gly245Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.37731810C>A | CA398747056 | HNF1B | c.830G>T (p.Gly277Val) c.752G>T (p.Gly251Val) n.282G>T c.733G>T (p.Gly245Trp) | gnomAD v4 |
| 17 | g.37731810C>G | CA398747057 | HNF1B | c.830G>C (p.Gly277Ala) c.752G>C (p.Gly251Ala) n.282G>C c.733G>C (p.Gly245Arg) | |
| 17 | g.37731810C>T | CA398747058 | HNF1B | c.830G>A (p.Gly277Glu) c.752G>A (p.Gly251Glu) n.282G>A c.733G>A (p.Gly245Arg) | |
| 17 | g.37731811C>A | CA398747059 | HNF1B | c.829G>T (p.Gly277Trp) c.751G>T (p.Gly251Trp) n.281G>T c.732G>T (p.Glu244Asp) | |
| 17 | g.37731811C>G | CA398747060 | HNF1B | c.829G>C (p.Gly277Arg) c.751G>C (p.Gly251Arg) n.281G>C c.732G>C (p.Glu244Asp) | |
| 17 | g.37731811C>T | CA8518978 | HNF1B | c.829G>A (p.Gly277Arg) c.751G>A (p.Gly251Arg) n.281G>A c.732G>A (p.Glu244=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.37731812T>A | CA398747061 | HNF1B | c.828A>T (p.Arg276=) c.750A>T (p.Arg250=) n.280A>T c.731A>T (p.Glu244Val) | |
| 17 | g.37731812T>C | CA398747062 | HNF1B | c.828A>G (p.Arg276=) c.750A>G (p.Arg250=) n.280A>G c.731A>G (p.Glu244Gly) | dbSNP |
| 17 | g.37731812T>G | CA398747063 | HNF1B | c.828A>C (p.Arg276=) c.750A>C (p.Arg250=) n.280A>C c.731A>C (p.Glu244Ala) | |
| 17 | g.37731813C>A | CA398747065 | HNF1B | c.827G>T (p.Arg276Leu) c.749G>T (p.Arg250Leu) n.279G>T c.730G>T (p.Glu244Ter) | |
| 17 | g.37731813C>G | CA398747066 | HNF1B | c.827G>C (p.Arg276Pro) c.749G>C (p.Arg250Pro) n.279G>C c.730G>C (p.Glu244Gln) | |
| 17 | g.37731813C>T | CA398747064 | HNF1B | c.827G>A (p.Arg276Gln) c.749G>A (p.Arg250Gln) n.279G>A c.730G>A (p.Glu244Lys) | ClinVar |
| 17 | g.37731814G>A | CA122601 | HNF1B | c.826C>T (p.Arg276Ter) c.748C>T (p.Arg250Ter) n.278C>T c.729C>T (p.Ser243=) | ClinVar dbSNP |
| 17 | g.37731814G>C | CA398747072 | HNF1B | c.826C>G (p.Arg276Gly) c.748C>G (p.Arg250Gly) n.278C>G c.729C>G (p.Ser243Arg) | ClinVar |
| 17 | g.37731814G>T | CA398747074 | HNF1B | c.826C>A (p.Arg276=) c.748C>A (p.Arg250=) n.278C>A c.729C>A (p.Ser243Arg) | gnomAD v4 |
| 17 | g.37731814_37731817del | CA2637448785 | HNF1B | c.823_826del (p.Gln275GlufsTer?) c.745_748del (p.Gln249GlufsTer?) n.275_278del c.726_729del (p.Cys242TrpfsTer18) | gnomAD v4 |