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 ClinVar |
17 | g.37731599_37733825del | CA915950000 | HNF1B | c.545_1045del c.545-78_967del | |
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 |
17 | g.37731815C>A | CA398747075 | HNF1B | c.825G>T (p.Gln275His) c.747G>T (p.Gln249His) n.277G>T c.728G>T (p.Ser243Ile) | |
17 | g.37731815C>G | CA398747076 | HNF1B | c.825G>C (p.Gln275His) c.747G>C (p.Gln249His) n.277G>C c.728G>C (p.Ser243Thr) | gnomAD v4 |
17 | g.37731815C>T | CA398747077 | HNF1B | c.825G>A (p.Gln275=) c.747G>A (p.Gln249=) n.277G>A c.728G>A (p.Ser243Asn) | |
17 | g.37731819_37731829del | CA2573153769 | HNF1B | c.815_825del (p.Glu272AlafsTer18) c.737_747del (p.Glu246AlafsTer18) n.267_277del c.718_728del (p.Asn240ArgfsTer?) | ClinVar dbSNP |
17 | g.37731816T>A | CA398747080 | HNF1B | c.824A>T (p.Gln275Leu) c.746A>T (p.Gln249Leu) n.276A>T c.727A>T (p.Ser243Cys) | |
17 | g.37731816T>C | CA398747078 | HNF1B | c.824A>G (p.Gln275Arg) c.746A>G (p.Gln249Arg) n.276A>G c.727A>G (p.Ser243Gly) | |
17 | g.37731816T>G | CA398747079 | HNF1B | c.824A>C (p.Gln275Pro) c.746A>C (p.Gln249Pro) n.276A>C c.727A>C (p.Ser243Arg) | |
17 | g.37731817G>A | CA398747082 | HNF1B | c.823C>T (p.Gln275Ter) c.745C>T (p.Gln249Ter) n.275C>T c.726C>T (p.Cys242=) | ClinVar |
17 | g.37731817G>C | CA398747083 | HNF1B | c.823C>G (p.Gln275Glu) c.745C>G (p.Gln249Glu) n.275C>G c.726C>G (p.Cys242Trp) | |
17 | g.37731817G>T | CA398747088 | HNF1B | c.823C>A (p.Gln275Lys) c.745C>A (p.Gln249Lys) n.275C>A c.726C>A (p.Cys242Ter) | |
17 | g.37731818C>A | CA398747091 | HNF1B | c.822G>T (p.Leu274Phe) c.744G>T (p.Leu248Phe) n.274G>T c.725G>T (p.Cys242Phe) | gnomAD v4 |
17 | g.37731818C>G | CA398747093 | HNF1B | c.822G>C (p.Leu274Phe) c.744G>C (p.Leu248Phe) n.274G>C c.725G>C (p.Cys242Ser) | gnomAD v4 |
17 | g.37731818C>T | CA398747095 | HNF1B | c.822G>A (p.Leu274=) c.744G>A (p.Leu248=) n.274G>A c.725G>A (p.Cys242Tyr) | |
17 | g.37731819A>C | CA398747098 | HNF1B | c.821T>G (p.Leu274Trp) c.743T>G (p.Leu248Trp) n.273T>G c.724T>G (p.Cys242Gly) | |
17 | g.37731819A>G | CA398747099 | HNF1B | c.821T>C (p.Leu274Ser) c.743T>C (p.Leu248Ser) n.273T>C c.724T>C (p.Cys242Arg) | |
17 | g.37731819A>T | CA398747096 | HNF1B | c.821T>A (p.Leu274Ter) c.743T>A (p.Leu248Ter) n.273T>A c.724T>A (p.Cys242Ser) | |
17 | g.37731820A>C | CA398747102 | HNF1B | c.820T>G (p.Leu274Val) c.742T>G (p.Leu248Val) n.272T>G c.723T>G (p.Val241=) | |
17 | g.37731820A>G | CA499602701 | HNF1B | c.820T>C (p.Leu274=) c.742T>C (p.Leu248=) n.272T>C c.723T>C (p.Val241=) | |
17 | g.37731820A>T | CA398747101 | HNF1B | c.820T>A (p.Leu274Met) c.742T>A (p.Leu248Met) n.272T>A c.723T>A (p.Val241=) | |
17 | g.37731821A>C | CA398747104 | HNF1B | c.819T>G (p.Cys273Trp) c.741T>G (p.Cys247Trp) n.271T>G c.722T>G (p.Val241Gly) | |
17 | g.37731821A>G | CA398747103 | HNF1B | c.819T>C (p.Cys273=) c.741T>C (p.Cys247=) n.271T>C c.722T>C (p.Val241Ala) | ClinVar dbSNP gnomAD v4 |
17 | g.37731821A>T | CA398747105 | HNF1B | c.819T>A (p.Cys273Ter) c.741T>A (p.Cys247Ter) n.271T>A c.722T>A (p.Val241Asp) | |
17 | g.37731822C>A | CA398747107 | HNF1B | c.818G>T (p.Cys273Phe) c.740G>T (p.Cys247Phe) n.270G>T c.721G>T (p.Val241Phe) | |
17 | g.37731822C>G | CA398747109 | HNF1B | c.818G>C (p.Cys273Ser) c.740G>C (p.Cys247Ser) n.270G>C c.721G>C (p.Val241Leu) | ClinVar |
17 | g.37731822C>T | CA398747110 | HNF1B | c.818G>A (p.Cys273Tyr) c.740G>A (p.Cys247Tyr) n.270G>A c.721G>A (p.Val241Ile) | ClinVar |
17 | g.37731823A>C | CA398747112 | HNF1B | c.817T>G (p.Cys273Gly) c.739T>G (p.Cys247Gly) n.269T>G c.720T>G (p.Asn240Lys) | |
17 | g.37731823A>G | CA398747114 | HNF1B | c.817T>C (p.Cys273Arg) c.739T>C (p.Cys247Arg) n.269T>C c.720T>C (p.Asn240=) | |
17 | g.37731823A>T | CA398747116 | HNF1B | c.817T>A (p.Cys273Ser) c.739T>A (p.Cys247Ser) n.269T>A c.720T>A (p.Asn240Lys) | gnomAD v4 |
17 | g.37731824T>A | CA398747118 | HNF1B | c.816A>T (p.Glu272Asp) c.738A>T (p.Glu246Asp) n.268A>T c.719A>T (p.Asn240Ile) | |
17 | g.37731824T>C | CA398747120 | HNF1B | c.816A>G (p.Glu272=) c.738A>G (p.Glu246=) n.268A>G c.719A>G (p.Asn240Ser) | |
17 | g.37731824T>G | CA398747121 | HNF1B | c.816A>C (p.Glu272Asp) c.738A>C (p.Glu246Asp) n.268A>C c.719A>C (p.Asn240Thr) | |
17 | g.37731825T>A | CA398747122 | HNF1B | c.815A>T (p.Glu272Val) c.737A>T (p.Glu246Val) n.267A>T c.718A>T (p.Asn240Tyr) | |
17 | g.37731825T>C | CA398747124 | HNF1B | c.815A>G (p.Glu272Gly) c.737A>G (p.Glu246Gly) n.267A>G c.718A>G (p.Asn240Asp) | |
17 | g.37731825T>G | CA398747128 | HNF1B | c.815A>C (p.Glu272Ala) c.737A>C (p.Glu246Ala) n.267A>C c.718A>C (p.Asn240His) | |
17 | g.37731826C>A | CA398747133 | HNF1B | c.814G>T (p.Glu272Ter) c.736G>T (p.Glu246Ter) n.266G>T c.717G>T (p.Gln239His) | |
17 | g.37731826C>G | CA398747132 | HNF1B | c.814G>C (p.Glu272Gln) c.736G>C (p.Glu246Gln) n.266G>C c.717G>C (p.Gln239His) | |
17 | g.37731826C>T | CA398747130 | HNF1B | c.814G>A (p.Glu272Lys) c.736G>A (p.Glu246Lys) n.266G>A c.717G>A (p.Gln239=) | |
17 | g.37731827T>A | CA398747135 | HNF1B | c.813A>T (p.Ala271=) c.735A>T (p.Ala245=) n.265A>T c.716A>T (p.Gln239Leu) | |
17 | g.37731827T>C | CA290282185 | HNF1B | c.813A>G (p.Ala271=) c.735A>G (p.Ala245=) n.265A>G c.716A>G (p.Gln239Arg) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.37731827T>G | CA398747138 | HNF1B | c.813A>C (p.Ala271=) c.735A>C (p.Ala245=) n.265A>C c.716A>C (p.Gln239Pro) | gnomAD v4 |
17 | g.37731828G>A | CA398747140 | HNF1B | c.812C>T (p.Ala271Val) c.734C>T (p.Ala245Val) n.264C>T c.715C>T (p.Gln239Ter) | |
17 | g.37731828G>C | CA398747142 | HNF1B | c.812C>G (p.Ala271Gly) c.734C>G (p.Ala245Gly) n.264C>G c.715C>G (p.Gln239Glu) | |
17 | g.37731828G>T | CA398747144 | HNF1B | c.812C>A (p.Ala271Glu) c.734C>A (p.Ala245Glu) n.264C>A c.715C>A (p.Gln239Lys) | gnomAD v4 |
17 | g.37731829C>A | CA398747146 | HNF1B | c.811G>T (p.Ala271Ser) c.733G>T (p.Ala245Ser) n.263G>T c.714G>T (p.Arg238Ser) |