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.37731595C>A | CA398745828 | HNF1B | c.1045G>T (p.Gly349Ter) c.967G>T (p.Gly323Ter) n.497G>T c.1045G>T (p.Gly349Cys) | |
17 | g.37731595C>G | CA398745823 | HNF1B | c.1045G>C (p.Gly349Arg) c.967G>C (p.Gly323Arg) n.497G>C | |
17 | g.37731595C>T | CA398745808 | HNF1B | c.1045G>A (p.Gly349Arg) c.967G>A (p.Gly323Arg) n.497G>A c.1045G>A (p.Gly349Ser) | |
17 | g.37731599_37733825del | CA915950000 | HNF1B | c.545_1045del c.545-78_967del | |
17 | g.37731596T>A | CA499602422 | HNF1B | c.1044A>T (p.Ser348=) c.966A>T (p.Ser322=) n.496A>T | |
17 | g.37731596T>C | CA499602423 | HNF1B | c.1044A>G (p.Ser348=) c.966A>G (p.Ser322=) n.496A>G | |
17 | g.37731596T>G | CA499602424 | HNF1B | c.1044A>C (p.Ser348=) c.966A>C (p.Ser322=) n.496A>C | |
17 | g.37731597G>A | CA398745834 | HNF1B | c.1043C>T (p.Ser348Leu) c.965C>T (p.Ser322Leu) n.495C>T | |
17 | g.37731597G>C | CA398745839 | HNF1B | c.1043C>G (p.Ser348Ter) c.965C>G (p.Ser322Ter) n.495C>G | |
17 | g.37731597G>T | CA398745842 | HNF1B | c.1043C>A (p.Ser348Ter) c.965C>A (p.Ser322Ter) n.495C>A | |
17 | g.37731598del | CA2740095324 | HNF1B | c.1042del (p.Ser348GlnfsTer28) c.964del (p.Ser322GlnfsTer28) n.494del c.1042del (p.Ser348GlnfsTer10) c.1042del (p.Ser348GlnfsTer?) | ClinVar |
17 | g.37731598A>C | CA398745846 | HNF1B | c.1042T>G (p.Ser348Ala) c.964T>G (p.Ser322Ala) n.494T>G | |
17 | g.37731598A>G | CA398745849 | HNF1B | c.1042T>C (p.Ser348Pro) c.964T>C (p.Ser322Pro) n.494T>C | |
17 | g.37731598A>T | CA398745852 | HNF1B | c.1042T>A (p.Ser348Thr) c.964T>A (p.Ser322Thr) n.494T>A | |
17 | g.37731599C>A | CA499602425 | HNF1B | c.1041G>T (p.Leu347=) c.963G>T (p.Leu321=) n.493G>T | |
17 | g.37731599C>G | CA499602426 | HNF1B | c.1041G>C (p.Leu347=) c.963G>C (p.Leu321=) n.493G>C | |
17 | g.37731599C>T | CA499602427 | HNF1B | c.1041G>A (p.Leu347=) c.963G>A (p.Leu321=) n.493G>A | gnomAD v4 |
17 | g.37731600A>C | CA398745857 | HNF1B | c.1040T>G (p.Leu347Arg) c.962T>G (p.Leu321Arg) n.492T>G | dbSNP gnomAD v2 gnomAD v4 |
17 | g.37731600A>G | CA290281916 | HNF1B | c.1040T>C (p.Leu347Pro) c.962T>C (p.Leu321Pro) n.492T>C | dbSNP |
17 | g.37731600A>T | CA398745859 | HNF1B | c.1040T>A (p.Leu347Gln) c.962T>A (p.Leu321Gln) n.492T>A | gnomAD v4 |
17 | g.37731600dup | CA2637448706 | HNF1B | c.1040dup (p.Ser348ValfsTer12) c.962dup (p.Ser322ValfsTer12) n.492dup c.1040dup (p.Ser348ValfsTer?) c.1040dup (p.Ser348ValfsTer14) | gnomAD v4 |
17 | g.37731601G>A | CA499602428 | HNF1B | c.1039C>T (p.Leu347=) c.961C>T (p.Leu321=) n.491C>T | |
17 | g.37731601G>C | CA398745861 | HNF1B | c.1039C>G (p.Leu347Val) c.961C>G (p.Leu321Val) n.491C>G | |
17 | g.37731601G>T | CA398745863 | HNF1B | c.1039C>A (p.Leu347Met) c.961C>A (p.Leu321Met) n.491C>A | |
17 | g.37731602C>A | CA398745881 | HNF1B | c.1038G>T (p.Lys346Asn) c.960G>T (p.Lys320Asn) n.490G>T | |
17 | g.37731602C>G | CA398745886 | HNF1B | c.1038G>C (p.Lys346Asn) c.960G>C (p.Lys320Asn) n.490G>C | |
17 | g.37731602C>T | CA499602429 | HNF1B | c.1038G>A (p.Lys346=) c.960G>A (p.Lys320=) n.490G>A | gnomAD v4 |
17 | g.37731603T>A | CA398745893 | HNF1B | c.1037A>T (p.Lys346Met) c.959A>T (p.Lys320Met) n.489A>T | |
17 | g.37731603T>C | CA398745894 | HNF1B | c.1037A>G (p.Lys346Arg) c.959A>G (p.Lys320Arg) n.489A>G | |
17 | g.37731603T>G | CA398745892 | HNF1B | c.1037A>C (p.Lys346Thr) c.959A>C (p.Lys320Thr) n.489A>C | |
17 | g.37731604T>A | CA398745896 | HNF1B | c.1036A>T (p.Lys346Ter) c.958A>T (p.Lys320Ter) n.488A>T | |
17 | g.37731604T>C | CA398745900 | HNF1B | c.1036A>G (p.Lys346Glu) c.958A>G (p.Lys320Glu) n.488A>G | gnomAD v4 |
17 | g.37731604T>G | CA398745904 | HNF1B | c.1036A>C (p.Lys346Gln) c.958A>C (p.Lys320Gln) n.488A>C | |
17 | g.37731605G>A | CA499602433 | HNF1B | c.1035C>T (p.Asn345=) c.957C>T (p.Asn319=) n.487C>T | gnomAD v4 |
17 | g.37731605G>C | CA398745907 | HNF1B | c.1035C>G (p.Asn345Lys) c.957C>G (p.Asn319Lys) n.487C>G | |
17 | g.37731605G>T | CA398745908 | HNF1B | c.1035C>A (p.Asn345Lys) c.957C>A (p.Asn319Lys) n.487C>A | |
17 | g.37731606T>A | CA398745909 | HNF1B | c.1034A>T (p.Asn345Ile) c.956A>T (p.Asn319Ile) n.486A>T | |
17 | g.37731606T>C | CA398745910 | HNF1B | c.1034A>G (p.Asn345Ser) c.956A>G (p.Asn319Ser) n.486A>G | |
17 | g.37731606T>G | CA398745914 | HNF1B | c.1034A>C (p.Asn345Thr) c.956A>C (p.Asn319Thr) n.486A>C | |
17 | g.37731607T>A | CA398745920 | HNF1B | c.1033A>T (p.Asn345Tyr) c.955A>T (p.Asn319Tyr) n.485A>T | |
17 | g.37731607T>C | CA8518946 | HNF1B | c.1033A>G (p.Asn345Asp) c.955A>G (p.Asn319Asp) n.485A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.37731607T>G | CA398745925 | HNF1B | c.1033A>C (p.Asn345His) c.955A>C (p.Asn319His) n.485A>C | |
17 | g.37731608T>A | CA499602435 | HNF1B | c.1032A>T (p.Pro344=) c.954A>T (p.Pro318=) n.484A>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.37731608T>C | CA499602436 | HNF1B | c.1032A>G (p.Pro344=) c.954A>G (p.Pro318=) n.484A>G | |
17 | g.37731608T>G | CA499602437 | HNF1B | c.1032A>C (p.Pro344=) c.954A>C (p.Pro318=) n.484A>C | |
17 | g.37731609G>A | CA398745942 | HNF1B | c.1031C>T (p.Pro344Leu) c.953C>T (p.Pro318Leu) n.483C>T | |
17 | g.37731609G>C | CA398745935 | HNF1B | c.1031C>G (p.Pro344Arg) c.953C>G (p.Pro318Arg) n.483C>G | |
17 | g.37731609G>T | CA398745930 | HNF1B | c.1031C>A (p.Pro344Gln) c.953C>A (p.Pro318Gln) n.483C>A | gnomAD v4 |
17 | g.37731610G>A | CA398745945 | HNF1B | c.1030C>T (p.Pro344Ser) c.952C>T (p.Pro318Ser) n.482C>T | |
17 | g.37731610G>C | CA398745951 | HNF1B | c.1030C>G (p.Pro344Ala) c.952C>G (p.Pro318Ala) n.482C>G | |
17 | g.37731610G>T | CA398745956 | HNF1B | c.1030C>A (p.Pro344Thr) c.952C>A (p.Pro318Thr) n.482C>A | gnomAD v4 |
17 | g.37731611A>C | CA499602439 | HNF1B | c.1029T>G (p.Pro343=) c.951T>G (p.Pro317=) n.481T>G | |
17 | g.37731611A>G | CA499602440 | HNF1B | c.1029T>C (p.Pro343=) c.951T>C (p.Pro317=) n.481T>C | |
17 | g.37731611A>T | CA499602441 | HNF1B | c.1029T>A (p.Pro343=) c.951T>A (p.Pro317=) n.481T>A | |
17 | g.37731612G>A | CA398745959 | HNF1B | c.1028C>T (p.Pro343Leu) c.950C>T (p.Pro317Leu) n.480C>T | dbSNP |
17 | g.37731612G>C | CA398745960 | HNF1B | c.1028C>G (p.Pro343Arg) c.950C>G (p.Pro317Arg) n.480C>G | |
17 | g.37731612G>T | CA398745963 | HNF1B | c.1028C>A (p.Pro343His) c.950C>A (p.Pro317His) n.480C>A | |
17 | g.37731613G>A | CA398745967 | HNF1B | c.1027C>T (p.Pro343Ser) c.949C>T (p.Pro317Ser) n.479C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.37731613G>C | CA398745972 | HNF1B | c.1027C>G (p.Pro343Ala) c.949C>G (p.Pro317Ala) n.479C>G | |
17 | g.37731613G>T | CA398745976 | HNF1B | c.1027C>A (p.Pro343Thr) c.949C>A (p.Pro317Thr) n.479C>A | |
17 | g.37731614A>C | CA499602442 | HNF1B | c.1026T>G (p.Ser342=) c.948T>G (p.Ser316=) n.478T>G | |
17 | g.37731614A>G | CA499602443 | HNF1B | c.1026T>C (p.Ser342=) c.948T>C (p.Ser316=) n.478T>C | |
17 | g.37731614A>T | CA499602444 | HNF1B | c.1026T>A (p.Ser342=) c.948T>A (p.Ser316=) n.478T>A | |
17 | g.37731615G>A | CA8518947 | HNF1B | c.1025C>T (p.Ser342Phe) c.947C>T (p.Ser316Phe) n.477C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.37731615G>C | CA398745978 | HNF1B | c.1025C>G (p.Ser342Cys) c.947C>G (p.Ser316Cys) n.477C>G | gnomAD v4 |
17 | g.37731615G>T | CA398745979 | HNF1B | c.1025C>A (p.Ser342Tyr) c.947C>A (p.Ser316Tyr) n.477C>A | |
17 | g.37731616A>C | CA398745983 | HNF1B | c.1024T>G (p.Ser342Ala) c.946T>G (p.Ser316Ala) n.476T>G | |
17 | g.37731616A>G | CA398745993 | HNF1B | c.1024T>C (p.Ser342Pro) c.946T>C (p.Ser316Pro) n.476T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.37731616A>T | CA398745980 | HNF1B | c.1024T>A (p.Ser342Thr) c.946T>A (p.Ser316Thr) n.476T>A | |
17 | g.37731617G>A | CA499602450 | HNF1B | c.1023C>T (p.Ser341=) c.945C>T (p.Ser315=) n.475C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.37731617G>C | CA499602448 | HNF1B | c.1023C>G (p.Ser341=) c.945C>G (p.Ser315=) n.475C>G | |
17 | g.37731617G>T | CA499602449 | HNF1B | c.1023C>A (p.Ser341=) c.945C>A (p.Ser315=) n.475C>A | |
17 | g.37731618G>A | CA398745997 | HNF1B | c.1022C>T (p.Ser341Phe) c.944C>T (p.Ser315Phe) n.474C>T | gnomAD v4 |
17 | g.37731618G>C | CA398746005 | HNF1B | c.1022C>G (p.Ser341Cys) c.944C>G (p.Ser315Cys) n.474C>G | |
17 | g.37731618G>T | CA398746014 | HNF1B | c.1022C>A (p.Ser341Tyr) c.944C>A (p.Ser315Tyr) n.474C>A | |
17 | g.37731619A>C | CA398746019 | HNF1B | c.1021T>G (p.Ser341Ala) c.943T>G (p.Ser315Ala) n.473T>G | |
17 | g.37731619A>G | CA398746026 | HNF1B | c.1021T>C (p.Ser341Pro) c.943T>C (p.Ser315Pro) n.473T>C | |
17 | g.37731619A>T | CA398746029 | HNF1B | c.1021T>A (p.Ser341Thr) c.943T>A (p.Ser315Thr) n.473T>A | |
17 | g.37731620G>A | CA499602452 | HNF1B | c.1020C>T (p.Ser340=) c.942C>T (p.Ser314=) n.472C>T | |
17 | g.37731620G>C | CA398746043 | HNF1B | c.1020C>G (p.Ser340Arg) c.942C>G (p.Ser314Arg) n.472C>G | |
17 | g.37731620G>T | CA398746038 | HNF1B | c.1020C>A (p.Ser340Arg) c.942C>A (p.Ser314Arg) n.472C>A | |
17 | g.37731621C>A | CA398746047 | HNF1B | c.1019G>T (p.Ser340Ile) c.941G>T (p.Ser314Ile) n.471G>T | |
17 | g.37731621C>G | CA398746049 | HNF1B | c.1019G>C (p.Ser340Thr) c.941G>C (p.Ser314Thr) n.471G>C | |
17 | g.37731621C>T | CA398746052 | HNF1B | c.1019G>A (p.Ser340Asn) c.941G>A (p.Ser314Asn) n.471G>A | gnomAD v4 |
17 | g.37731622T>A | CA398746056 | HNF1B | c.1018A>T (p.Ser340Cys) c.940A>T (p.Ser314Cys) n.470A>T | |
17 | g.37731622T>C | CA398746069 | HNF1B | c.1018A>G (p.Ser340Gly) c.940A>G (p.Ser314Gly) n.470A>G | |
17 | g.37731622T>G | CA398746072 | HNF1B | c.1018A>C (p.Ser340Arg) c.940A>C (p.Ser314Arg) n.470A>C | |
17 | g.37731623G>A | CA499602454 | HNF1B | c.1017C>T (p.Pro339=) c.939C>T (p.Pro313=) n.469C>T | dbSNP |
17 | g.37731623G>C | CA499602455 | HNF1B | c.1017C>G (p.Pro339=) c.939C>G (p.Pro313=) n.469C>G | |
17 | g.37731623G>T | CA499602456 | HNF1B | c.1017C>A (p.Pro339=) c.939C>A (p.Pro313=) n.469C>A | |
17 | g.37731624G>A | CA398746083 | HNF1B | c.1016C>T (p.Pro339Leu) c.938C>T (p.Pro313Leu) n.468C>T | gnomAD v4 |
17 | g.37731624G>C | CA398746076 | HNF1B | c.1016C>G (p.Pro339Arg) c.938C>G (p.Pro313Arg) n.468C>G | dbSNP gnomAD v2 gnomAD v4 |
17 | g.37731624G>T | CA398746078 | HNF1B | c.1016C>A (p.Pro339His) c.938C>A (p.Pro313His) n.468C>A | |
17 | g.37731625G>A | CA398746087 | HNF1B | c.1015C>T (p.Pro339Ser) c.937C>T (p.Pro313Ser) n.467C>T | |
17 | g.37731625G>C | CA398746090 | HNF1B | c.1015C>G (p.Pro339Ala) c.937C>G (p.Pro313Ala) n.467C>G | |
17 | g.37731625G>T | CA398746093 | HNF1B | c.1015C>A (p.Pro339Thr) c.937C>A (p.Pro313Thr) n.467C>A | |
17 | g.37731626C>A | CA398746096 | HNF1B | c.1014G>T (p.Gln338His) c.936G>T (p.Gln312His) n.466G>T | |
17 | g.37731626C>G | CA398746101 | HNF1B | c.1014G>C (p.Gln338His) c.936G>C (p.Gln312His) n.466G>C | |
17 | g.37731626C>T | CA499602462 | HNF1B | c.1014G>A (p.Gln338=) c.936G>A (p.Gln312=) n.466G>A | gnomAD v4 |
17 | g.37731627T>A | CA398746104 | HNF1B | c.1013A>T (p.Gln338Leu) c.935A>T (p.Gln312Leu) n.465A>T | |
17 | g.37731627T>C | CA398746105 | HNF1B | c.1013A>G (p.Gln338Arg) c.935A>G (p.Gln312Arg) n.465A>G | |
17 | g.37731627T>G | CA398746106 | HNF1B | c.1013A>C (p.Gln338Pro) c.935A>C (p.Gln312Pro) n.465A>C | |
17 | g.37731633_37731635del | CA625879250 | HNF1B | c.1011_1013del (p.His337del) c.933_935del (p.His311del) n.463_465del | dbSNP gnomAD v2 gnomAD v4 |
17 | g.37731628G>A | CA398746107 | HNF1B | c.1012C>T (p.Gln338Ter) c.934C>T (p.Gln312Ter) n.464C>T | |
17 | g.37731628G>C | CA398746110 | HNF1B | c.1012C>G (p.Gln338Glu) c.934C>G (p.Gln312Glu) n.464C>G | |
17 | g.37731628G>T | CA398746111 | HNF1B | c.1012C>A (p.Gln338Lys) c.934C>A (p.Gln312Lys) n.464C>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.37731629G>A | CA499602465 | HNF1B | c.1011C>T (p.His337=) c.933C>T (p.His311=) n.463C>T | ClinVar dbSNP gnomAD v4 |
17 | g.37731629G>C | CA398746114 | HNF1B | c.1011C>G (p.His337Gln) c.933C>G (p.His311Gln) n.463C>G | gnomAD v4 |
17 | g.37731629G>T | CA398746116 | HNF1B | c.1011C>A (p.His337Gln) c.933C>A (p.His311Gln) n.463C>A | |
17 | g.37731630T>A | CA398746118 | HNF1B | c.1010A>T (p.His337Leu) c.932A>T (p.His311Leu) n.462A>T | |
17 | g.37731630T>C | CA398746125 | HNF1B | c.1010A>G (p.His337Arg) c.932A>G (p.His311Arg) n.462A>G | |
17 | g.37731630T>G | CA398746120 | HNF1B | c.1010A>C (p.His337Pro) c.932A>C (p.His311Pro) n.462A>C | |
17 | g.37731631G>A | CA398746135 | HNF1B | c.1009C>T (p.His337Tyr) c.931C>T (p.His311Tyr) n.461C>T | |
17 | g.37731631G>C | CA8518948 | HNF1B | c.1009C>G (p.His337Asp) c.931C>G (p.His311Asp) n.461C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.37731631G>T | CA398746140 | HNF1B | c.1009C>A (p.His337Asn) c.931C>A (p.His311Asn) n.461C>A | |
17 | g.37731632dup | CA913190765 | HNF1B | c.1009dup (p.His337ProfsTer23) c.931dup (p.His311ProfsTer23) n.461dup c.1009dup (p.His337ProfsTer?) c.1009dup (p.His337ProfsTer25) | ClinVar dbSNP |
17 | g.37731632G>A | CA8518949 | HNF1B | c.1008C>T (p.His336=) c.930C>T (p.His310=) n.460C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.37731632G>C | CA398746146 | HNF1B | c.1008C>G (p.His336Gln) c.930C>G (p.His310Gln) n.460C>G | ClinVar |
17 | g.37731632G>T | CA398746152 | HNF1B | c.1008C>A (p.His336Gln) c.930C>A (p.His310Gln) n.460C>A | |
17 | g.37731633T>A | CA398746164 | HNF1B | c.1007A>T (p.His336Leu) c.929A>T (p.His310Leu) n.459A>T | |
17 | g.37731633T>C | CA398746154 | HNF1B | c.1007A>G (p.His336Arg) c.929A>G (p.His310Arg) n.459A>G | ClinVar gnomAD v4 |
17 | g.37731633T>G | CA398746161 | HNF1B | c.1007A>C (p.His336Pro) c.929A>C (p.His310Pro) n.459A>C | |
17 | g.37731634G>A | CA214343 | HNF1B | c.1006C>T (p.His336Tyr) c.928C>T (p.His310Tyr) n.458C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.37731634G>C | CA8518950 | HNF1B | c.1006C>G (p.His336Asp) c.928C>G (p.His310Asp) n.458C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.37731634G>T | CA8518951 | HNF1B | c.1006C>A (p.His336Asn) c.928C>A (p.His310Asn) n.458C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.37731639dup | CA913190767 | HNF1B | c.1006dup (p.His336ProfsTer24) c.928dup (p.His310ProfsTer24) n.458dup c.1006dup (p.His336ProfsTer?) c.1006dup (p.His336ProfsTer26) | ClinVar dbSNP |
17 | g.37731639del | CA913190766 | HNF1B | c.1006del (p.His336ThrfsTer?) c.928del (p.His310ThrfsTer?) n.458del c.1006del (p.His336ThrfsTer22) | ClinVar gnomAD v4 |
17 | g.37731635G>A | CA8518953 | HNF1B | c.1005C>T (p.Pro335=) c.927C>T (p.Pro309=) n.457C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.37731635G>C | CA8518952 | HNF1B | c.1005C>G (p.Pro335=) c.927C>G (p.Pro309=) n.457C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.37731635G>T | CA499602472 | HNF1B | c.1005C>A (p.Pro335=) c.927C>A (p.Pro309=) n.457C>A | |
17 | g.37731636G>A | CA398746183 | HNF1B | c.1004C>T (p.Pro335Leu) c.926C>T (p.Pro309Leu) n.456C>T | dbSNP gnomAD v4 |
17 | g.37731636G>C | CA398746187 | HNF1B | c.1004C>G (p.Pro335Arg) c.926C>G (p.Pro309Arg) n.456C>G | gnomAD v4 |
17 | g.37731636G>T | CA398746185 | HNF1B | c.1004C>A (p.Pro335His) c.926C>A (p.Pro309His) n.456C>A | |
17 | g.37731637G>A | CA8518954 | HNF1B | c.1003C>T (p.Pro335Ser) c.925C>T (p.Pro309Ser) n.455C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.37731637G>C | CA398746199 | HNF1B | c.1003C>G (p.Pro335Ala) c.925C>G (p.Pro309Ala) n.455C>G | gnomAD v4 |
17 | g.37731637G>T | CA398746203 | HNF1B | c.1003C>A (p.Pro335Thr) c.925C>A (p.Pro309Thr) n.455C>A | |
17 | g.37731638G>A | CA499602476 | HNF1B | c.1002C>T (p.Ser334=) c.924C>T (p.Ser308=) n.454C>T | |
17 | g.37731638G>C | CA499602475 | HNF1B | c.1002C>G (p.Ser334=) c.924C>G (p.Ser308=) n.454C>G | |
17 | g.37731638G>T | CA499602474 | HNF1B | c.1002C>A (p.Ser334=) c.924C>A (p.Ser308=) n.454C>A | gnomAD v4 |
17 | g.37731639G>A | CA398746206 | HNF1B | c.1001C>T (p.Ser334Phe) c.923C>T (p.Ser308Phe) n.453C>T | ClinVar dbSNP gnomAD v4 |
17 | g.37731639G>C | CA398746208 | HNF1B | c.1001C>G (p.Ser334Cys) c.923C>G (p.Ser308Cys) n.453C>G | |
17 | g.37731639G>T | CA8518955 | HNF1B | c.1001C>A (p.Ser334Tyr) c.923C>A (p.Ser308Tyr) n.453C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.37731640A>C | CA398746213 | HNF1B | c.1000T>G (p.Ser334Ala) c.922T>G (p.Ser308Ala) n.452T>G | |
17 | g.37731640A>G | CA398746217 | HNF1B | c.1000T>C (p.Ser334Pro) c.922T>C (p.Ser308Pro) n.452T>C | |
17 | g.37731640A>T | CA398746222 | HNF1B | c.1000T>A (p.Ser334Thr) c.922T>A (p.Ser308Thr) n.452T>A | gnomAD v4 |
17 | g.37731641G>A | CA290281966 | HNF1B | c.999C>T (p.Gly333=) c.921C>T (p.Gly307=) n.451C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.37731641G>C | CA499602478 | HNF1B | c.999C>G (p.Gly333=) c.921C>G (p.Gly307=) n.451C>G | |
17 | g.37731641G>T | CA499602479 | HNF1B | c.999C>A (p.Gly333=) c.921C>A (p.Gly307=) n.451C>A | gnomAD v4 |
17 | g.37731642C>A | CA398746231 | HNF1B | c.998G>T (p.Gly333Val) c.920G>T (p.Gly307Val) n.450G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.37731642C>G | CA398746229 | HNF1B | c.998G>C (p.Gly333Ala) c.920G>C (p.Gly307Ala) n.450G>C | |
17 | g.37731642C>T | CA398746226 | HNF1B | c.998G>A (p.Gly333Asp) c.920G>A (p.Gly307Asp) n.450G>A | |
17 | g.37731643C>A | CA398746242 | HNF1B | c.997G>T (p.Gly333Cys) c.919G>T (p.Gly307Cys) n.449G>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.37731643C>G | CA398746251 | HNF1B | c.997G>C (p.Gly333Arg) c.919G>C (p.Gly307Arg) n.449G>C | |
17 | g.37731643C>T | CA8518956 | HNF1B | c.997G>A (p.Gly333Ser) c.919G>A (p.Gly307Ser) n.449G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.37731644G>A | CA8518957 | HNF1B | c.996C>T (p.His332=) c.918C>T (p.His306=) n.448C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.37731644G>C | CA398746273 | HNF1B | c.996C>G (p.His332Gln) c.918C>G (p.His306Gln) n.448C>G | |
17 | g.37731644G>T | CA398746279 | HNF1B | c.996C>A (p.His332Gln) c.918C>A (p.His306Gln) n.448C>A | |
17 | g.37731645T>A | CA398746283 | HNF1B | c.995A>T (p.His332Leu) c.917A>T (p.His306Leu) n.447A>T | |
17 | g.37731645T>C | CA398746287 | HNF1B | c.995A>G (p.His332Arg) c.917A>G (p.His306Arg) n.447A>G | |
17 | g.37731645T>G | CA398746289 | HNF1B | c.995A>C (p.His332Pro) c.917A>C (p.His306Pro) n.447A>C | |
17 | g.37731646G>A | CA398746293 | HNF1B | c.994C>T (p.His332Tyr) c.916C>T (p.His306Tyr) n.446C>T | dbSNP gnomAD v4 |
17 | g.37731646G>C | CA398746294 | HNF1B | c.994C>G (p.His332Asp) c.916C>G (p.His306Asp) n.446C>G | |
17 | g.37731646G>T | CA398746296 | HNF1B | c.994C>A (p.His332Asn) c.916C>A (p.His306Asn) n.446C>A | |
17 | g.37731647G>A | CA8518958 | HNF1B | c.993C>T (p.Ser331=) c.915C>T (p.Ser305=) n.445C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.37731647G>C | CA499602485 | HNF1B | c.993C>G (p.Ser331=) c.915C>G (p.Ser305=) n.445C>G | |
17 | g.37731647G>T | CA499602486 | HNF1B | c.993C>A (p.Ser331=) c.915C>A (p.Ser305=) n.445C>A | |
17 | g.37731648G>A | CA398746299 | HNF1B | c.992C>T (p.Ser331Phe) c.914C>T (p.Ser305Phe) n.444C>T | |
17 | g.37731648G>C | CA398746300 | HNF1B | c.992C>G (p.Ser331Cys) c.914C>G (p.Ser305Cys) n.444C>G | |
17 | g.37731648G>T | CA398746302 | HNF1B | c.992C>A (p.Ser331Tyr) c.914C>A (p.Ser305Tyr) n.444C>A | |
17 | g.37731649A>C | CA398746304 | HNF1B | c.991T>G (p.Ser331Ala) c.913T>G (p.Ser305Ala) n.443T>G | |
17 | g.37731649A>G | CA398746307 | HNF1B | c.991T>C (p.Ser331Pro) c.913T>C (p.Ser305Pro) n.443T>C | |
17 | g.37731649A>T | CA398746305 | HNF1B | c.991T>A (p.Ser331Thr) c.913T>A (p.Ser305Thr) n.443T>A | |
17 | g.37731650G>A | CA290281984 | HNF1B | c.990C>T (p.Leu330=) c.912C>T (p.Leu304=) n.442C>T | dbSNP gnomAD v4 |
17 | g.37731650G>C | CA499602490 | HNF1B | c.990C>G (p.Leu330=) c.912C>G (p.Leu304=) n.442C>G | dbSNP |
17 | g.37731650G>T | CA499602491 | HNF1B | c.990C>A (p.Leu330=) c.912C>A (p.Leu304=) n.442C>A | |
17 | g.37731651A>C | CA398746309 | HNF1B | c.989T>G (p.Leu330Arg) c.911T>G (p.Leu304Arg) n.441T>G | |
17 | g.37731651A>G | CA398746311 | HNF1B | c.989T>C (p.Leu330Pro) c.911T>C (p.Leu304Pro) n.441T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.37731651A>T | CA398746312 | HNF1B | c.989T>A (p.Leu330His) c.911T>A (p.Leu304His) n.441T>A | |
17 | g.37731652G>A | CA8518959 | HNF1B | c.988C>T (p.Leu330Phe) c.910C>T (p.Leu304Phe) n.440C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.37731652G>C | CA398746315 | HNF1B | c.988C>G (p.Leu330Val) c.910C>G (p.Leu304Val) n.440C>G | |
17 | g.37731652G>T | CA398746317 | HNF1B | c.988C>A (p.Leu330Ile) c.910C>A (p.Leu304Ile) n.440C>A | |
17 | g.37731653C>A | CA499602497 | HNF1B | c.987G>T (p.Leu329=) c.909G>T (p.Leu303=) n.439G>T | |
17 | g.37731653C>G | CA499602496 | HNF1B | c.987G>C (p.Leu329=) c.909G>C (p.Leu303=) n.439G>C | |
17 | g.37731653C>T | CA499602495 | HNF1B | c.987G>A (p.Leu329=) c.909G>A (p.Leu303=) n.439G>A | ClinVar dbSNP gnomAD v4 |
17 | g.37731654A>C | CA398746319 | HNF1B | c.986T>G (p.Leu329Arg) c.908T>G (p.Leu303Arg) n.438T>G | |
17 | g.37731654A>G | CA398746322 | HNF1B | c.986T>C (p.Leu329Pro) c.908T>C (p.Leu303Pro) n.438T>C | |
17 | g.37731654A>T | CA398746323 | HNF1B | c.986T>A (p.Leu329Gln) c.908T>A (p.Leu303Gln) n.438T>A | |
17 | g.37731654_37731658del | CA913190768 | HNF1B | c.982_986del (p.Pro328AlafsTer30) c.904_908del (p.Pro302AlafsTer30) n.434_438del c.982_986del (p.Pro328AlafsTer?) | ClinVar |
17 | g.37731655G>A | CA290281989 | HNF1B | c.985C>T (p.Leu329=) c.907C>T (p.Leu303=) n.437C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.37731655G>C | CA398746324 | HNF1B | c.985C>G (p.Leu329Val) c.907C>G (p.Leu303Val) n.437C>G | |
17 | g.37731655G>T | CA398746329 | HNF1B | c.985C>A (p.Leu329Met) c.907C>A (p.Leu303Met) n.437C>A | |
17 | g.37731656A>C | CA499602501 | HNF1B | c.984T>G (p.Pro328=) c.906T>G (p.Pro302=) n.436T>G | |
17 | g.37731656A>G | CA499602500 | HNF1B | c.984T>C (p.Pro328=) c.906T>C (p.Pro302=) n.436T>C | |
17 | g.37731656A>T | CA499602499 | HNF1B | c.984T>A (p.Pro328=) c.906T>A (p.Pro302=) n.436T>A | |
17 | g.37731657G>A | CA8518960 | HNF1B | c.983C>T (p.Pro328Leu) c.905C>T (p.Pro302Leu) n.435C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.37731657G>C | CA398746334 | HNF1B | c.983C>G (p.Pro328Arg) c.905C>G (p.Pro302Arg) n.435C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.37731657G>T | CA398746331 | HNF1B | c.983C>A (p.Pro328His) c.905C>A (p.Pro302His) n.435C>A | |
17 | g.37731659del | CA913190769 | HNF1B | c.983del (p.Pro328LeufsTer?) c.905del (p.Pro302LeufsTer?) n.435del c.983del (p.Pro328LeufsTer30) | ClinVar |
17 | g.37731658G>A | CA290281999 | HNF1B | c.982C>T (p.Pro328Ser) c.904C>T (p.Pro302Ser) n.434C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.37731658G>C | CA398746337 | HNF1B | c.982C>G (p.Pro328Ala) c.904C>G (p.Pro302Ala) n.434C>G | |
17 | g.37731658G>T | CA398746340 | HNF1B | c.982C>A (p.Pro328Thr) c.904C>A (p.Pro302Thr) n.434C>A | ClinVar dbSNP gnomAD v4 |
17 | g.37731659G>A | CA499602502 | HNF1B | c.981C>T (p.Asn327=) c.903C>T (p.Asn301=) n.433C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.37731659G>C | CA8518961 | HNF1B | c.981C>G (p.Asn327Lys) c.903C>G (p.Asn301Lys) n.433C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.37731659G>T | CA398746351 | HNF1B | c.981C>A (p.Asn327Lys) c.903C>A (p.Asn301Lys) n.433C>A | |
17 | g.37731660T>A | CA398746357 | HNF1B | c.980A>T (p.Asn327Ile) c.902A>T (p.Asn301Ile) n.432A>T | |
17 | g.37731660T>C | CA8518962 | HNF1B | c.980A>G (p.Asn327Ser) c.902A>G (p.Asn301Ser) n.432A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.37731660T>G | CA398746360 | HNF1B | c.980A>C (p.Asn327Thr) c.902A>C (p.Asn301Thr) n.432A>C | |
17 | g.37731661T>A | CA398746363 | HNF1B | c.979A>T (p.Asn327Tyr) c.901A>T (p.Asn301Tyr) n.431A>T c.882A>T (p.Ter294Cys) | |
17 | g.37731661T>C | CA398746376 | HNF1B | c.979A>G (p.Asn327Asp) c.901A>G (p.Asn301Asp) n.431A>G c.882A>G (p.Ter294Trp) | |
17 | g.37731661T>G | CA398746379 | HNF1B | c.979A>C (p.Asn327His) c.901A>C (p.Asn301His) n.431A>C c.882A>C (p.Ter294Cys) | |
17 | g.37731662C>A | CA398746382 | HNF1B | c.978G>T (p.Leu326=) c.900G>T (p.Leu300=) n.430G>T c.881G>T (p.Ter294Leu) | |
17 | g.37731662C>G | CA290282006 | HNF1B | c.978G>C (p.Leu326=) c.900G>C (p.Leu300=) n.430G>C c.881G>C (p.Ter294Ser) | dbSNP gnomAD v4 |
17 | g.37731662C>T | CA499602505 | HNF1B | c.978G>A (p.Leu326=) c.900G>A (p.Leu300=) n.430G>A c.881G>A (p.Ter294=) | |
17 | g.37731663A>C | CA398746388 | HNF1B | c.977T>G (p.Leu326Arg) c.899T>G (p.Leu300Arg) n.429T>G c.880T>G (p.Ter294Gly) | |
17 | g.37731663A>G | CA398746389 | HNF1B | c.977T>C (p.Leu326Pro) c.899T>C (p.Leu300Pro) n.429T>C c.880T>C (p.Ter294Arg) | gnomAD v4 |
17 | g.37731663A>T | CA398746387 | HNF1B | c.977T>A (p.Leu326Gln) c.899T>A (p.Leu300Gln) n.429T>A c.880T>A (p.Ter294Arg) | |
17 | g.37731664G>A | CA499602506 | HNF1B | c.976C>T (p.Leu326=) c.898C>T (p.Leu300=) n.428C>T c.879C>T (p.Ala293=) | |
17 | g.37731664G>C | CA8518963 | HNF1B | c.976C>G (p.Leu326Val) c.898C>G (p.Leu300Val) n.428C>G c.879C>G (p.Ala293=) | dbSNP ExAC gnomAD v2 |
17 | g.37731664G>T | CA398746390 | HNF1B | c.976C>A (p.Leu326Met) c.898C>A (p.Leu300Met) n.428C>A c.879C>A (p.Ala293=) | |
17 | g.37731665G>A | CA398746391 | HNF1B | c.975C>T (p.Ser325=) c.897C>T (p.Ser299=) n.427C>T c.878C>T (p.Ala293Val) | |
17 | g.37731665G>C | CA398746392 | HNF1B | c.975C>G (p.Ser325Arg) c.897C>G (p.Ser299Arg) n.427C>G c.878C>G (p.Ala293Gly) | |
17 | g.37731665G>T | CA398746393 | HNF1B | c.975C>A (p.Ser325Arg) c.897C>A (p.Ser299Arg) n.427C>A c.878C>A (p.Ala293Asp) | |
17 | g.37731666C>A | CA398746397 | HNF1B | c.974G>T (p.Ser325Ile) c.896G>T (p.Ser299Ile) n.426G>T c.877G>T (p.Ala293Ser) | |
17 | g.37731666C>G | CA398746395 | HNF1B | c.974G>C (p.Ser325Thr) c.896G>C (p.Ser299Thr) n.426G>C c.877G>C (p.Ala293Pro) | |
17 | g.37731666C>T | CA245115 | HNF1B | c.974G>A (p.Ser325Asn) c.896G>A (p.Ser299Asn) n.426G>A c.877G>A (p.Ala293Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.37731667T>A | CA398746400 | HNF1B | c.973A>T (p.Ser325Cys) c.895A>T (p.Ser299Cys) n.425A>T c.876A>T (p.Thr292=) | |
17 | g.37731667T>C | CA398746401 | HNF1B | c.973A>G (p.Ser325Gly) c.895A>G (p.Ser299Gly) n.425A>G c.876A>G (p.Thr292=) | gnomAD v4 |
17 | g.37731667T>G | CA398746402 | HNF1B | c.973A>C (p.Ser325Arg) c.895A>C (p.Ser299Arg) n.425A>C c.876A>C (p.Thr292=) | |
17 | g.37731669_37731670del | CA913190770 | HNF1B | c.972_973del (p.His324GlnfsTer?) c.894_895del (p.His298GlnfsTer?) n.424_425del c.875_876del (p.Thr292SerfsTer?) | ClinVar |
17 | g.37731668G>A | CA398746403 | HNF1B | c.972C>T (p.His324=) c.894C>T (p.His298=) n.424C>T c.875C>T (p.Thr292Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.37731668G>C | CA398746405 | HNF1B | c.972C>G (p.His324Gln) c.894C>G (p.His298Gln) n.424C>G c.875C>G (p.Thr292Arg) | |
17 | g.37731668G>T | CA8518964 | HNF1B | c.972C>A (p.His324Gln) c.894C>A (p.His298Gln) n.424C>A c.875C>A (p.Thr292Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.37731669T>A | CA398746410 | HNF1B | c.971A>T (p.His324Leu) c.893A>T (p.His298Leu) n.423A>T c.874A>T (p.Thr292Ser) | |
17 | g.37731669T>C | CA398746411 | HNF1B | c.971A>G (p.His324Arg) c.893A>G (p.His298Arg) n.423A>G c.874A>G (p.Thr292Ala) | |
17 | g.37731669T>G | CA398746408 | HNF1B | c.971A>C (p.His324Pro) c.893A>C (p.His298Pro) n.423A>C c.874A>C (p.Thr292Pro) | |
17 | g.37731670G>A | CA398746412 | HNF1B | c.970C>T (p.His324Tyr) c.892C>T (p.His298Tyr) n.422C>T c.873C>T (p.Leu291=) | |
17 | g.37731670G>C | CA398746413 | HNF1B | c.970C>G (p.His324Asp) c.892C>G (p.His298Asp) n.422C>G c.873C>G (p.Leu291=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.37731670G>T | CA398746414 | HNF1B | c.970C>A (p.His324Asn) c.892C>A (p.His298Asn) n.422C>A c.873C>A (p.Leu291=) | |
17 | g.37731671A>C | CA398746415 | HNF1B | c.969T>G (p.Thr323=) c.891T>G (p.Thr297=) n.421T>G c.872T>G (p.Leu291Arg) | |
17 | g.37731671A>G | CA398746416 | HNF1B | c.969T>C (p.Thr323=) c.891T>C (p.Thr297=) n.421T>C c.872T>C (p.Leu291Pro) | |
17 | g.37731671A>T | CA398746417 | HNF1B | c.969T>A (p.Thr323=) c.891T>A (p.Thr297=) n.421T>A c.872T>A (p.Leu291His) | |
17 | g.37731672G>A | CA398746422 | HNF1B | c.968C>T (p.Thr323Ile) c.890C>T (p.Thr297Ile) n.420C>T c.871C>T (p.Leu291Phe) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.37731672G>C | CA8518965 | HNF1B | c.968C>G (p.Thr323Ser) c.890C>G (p.Thr297Ser) n.420C>G c.871C>G (p.Leu291Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.37731672G>T | CA398746419 | HNF1B | c.968C>A (p.Thr323Asn) c.890C>A (p.Thr297Asn) n.420C>A c.871C>A (p.Leu291Ile) | |
17 | g.37731673T>A | CA398746424 | HNF1B | c.967A>T (p.Thr323Ser) c.889A>T (p.Thr297Ser) n.419A>T c.870A>T (p.Arg290Ser) | |
17 | g.37731673T>C | CA398746426 | HNF1B | c.967A>G (p.Thr323Ala) c.889A>G (p.Thr297Ala) n.419A>G c.870A>G (p.Arg290=) | |
17 | g.37731673T>G | CA398746428 | HNF1B | c.967A>C (p.Thr323Pro) c.889A>C (p.Thr297Pro) n.419A>C c.870A>C (p.Arg290Ser) | gnomAD v4 |
17 | g.37731673dup | CA913190771 | HNF1B | c.967dup (p.Thr323AsnfsTer?) c.889dup (p.Thr297AsnfsTer?) n.419dup c.870dup (p.Leu291ThrfsTer?) | ClinVar |
17 | g.37731674C>A | CA398746429 | HNF1B | c.966G>T (p.Gln322His) c.888G>T (p.Gln296His) n.418G>T c.869G>T (p.Arg290Ile) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.37731674C>G | CA398746430 | HNF1B | c.966G>C (p.Gln322His) c.888G>C (p.Gln296His) n.418G>C c.869G>C (p.Arg290Thr) | gnomAD v4 |
17 | g.37731674C>T | CA398746431 | HNF1B | c.966G>A (p.Gln322=) c.888G>A (p.Gln296=) n.418G>A c.869G>A (p.Arg290Lys) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.37731675T>A | CA398746433 | HNF1B | c.965A>T (p.Gln322Leu) c.887A>T (p.Gln296Leu) n.417A>T c.868A>T (p.Arg290Ter) | |
17 | g.37731675T>C | CA398746439 | HNF1B | c.965A>G (p.Gln322Arg) c.887A>G (p.Gln296Arg) n.417A>G c.868A>G (p.Arg290Gly) | |
17 | g.37731675T>G | CA398746438 | HNF1B | c.965A>C (p.Gln322Pro) c.887A>C (p.Gln296Pro) n.417A>C c.868A>C (p.Arg290=) | gnomAD v4 |
17 | g.37731676G>A | CA398746442 | HNF1B | c.964C>T (p.Gln322Ter) c.886C>T (p.Gln296Ter) n.416C>T c.867C>T (p.Thr289=) | |
17 | g.37731676G>C | CA398746443 | HNF1B | c.964C>G (p.Gln322Glu) c.886C>G (p.Gln296Glu) n.416C>G c.867C>G (p.Thr289=) | |
17 | g.37731676G>T | CA398746445 | HNF1B | c.964C>A (p.Gln322Lys) c.886C>A (p.Gln296Lys) n.416C>A c.867C>A (p.Thr289=) | |
17 | g.37731677G>A | CA398746450 | HNF1B | c.963C>T (p.Asn321=) c.885C>T (p.Asn295=) n.415C>T c.866C>T (p.Thr289Ile) | dbSNP gnomAD v4 |
17 | g.37731677G>C | CA398746452 | HNF1B | c.963C>G (p.Asn321Lys) c.885C>G (p.Asn295Lys) n.415C>G c.866C>G (p.Thr289Ser) | |
17 | g.37731677G>T | CA398746454 | HNF1B | c.963C>A (p.Asn321Lys) c.885C>A (p.Asn295Lys) n.415C>A c.866C>A (p.Thr289Asn) | |
17 | g.37731678T>A | CA398746456 | HNF1B | c.962A>T (p.Asn321Ile) c.884A>T (p.Asn295Ile) n.414A>T c.865A>T (p.Thr289Ser) | |
17 | g.37731678T>C | CA214373 | HNF1B | c.962A>G (p.Asn321Ser) c.884A>G (p.Asn295Ser) n.414A>G c.865A>G (p.Thr289Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.37731678T>G | CA398746457 | HNF1B | c.962A>C (p.Asn321Thr) c.884A>C (p.Asn295Thr) n.414A>C c.865A>C (p.Thr289Pro) | |
17 | g.37731679T>A | CA398746458 | HNF1B | c.961A>T (p.Asn321Tyr) c.883A>T (p.Asn295Tyr) n.413A>T c.864A>T (p.Pro288=) | |
17 | g.37731679T>C | CA398746459 | HNF1B | c.961A>G (p.Asn321Asp) c.883A>G (p.Asn295Asp) n.413A>G c.864A>G (p.Pro288=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.37731679T>G | CA398746461 | HNF1B | c.961A>C (p.Asn321His) c.883A>C (p.Asn295His) n.413A>C c.864A>C (p.Pro288=) | gnomAD v4 |
17 | g.37731680G>A | CA398746463 | HNF1B | c.960C>T (p.Ser320=) c.882C>T (p.Ser294=) n.412C>T c.863C>T (p.Pro288Leu) | |
17 | g.37731680G>C | CA398746466 | HNF1B | c.960C>G (p.Ser320=) c.882C>G (p.Ser294=) n.412C>G c.863C>G (p.Pro288Arg) | |
17 | g.37731680G>T | CA398746465 | HNF1B | c.960C>A (p.Ser320=) c.882C>A (p.Ser294=) n.412C>A c.863C>A (p.Pro288Gln) | |
17 | g.37731681G>A | CA398746468 | HNF1B | c.959C>T (p.Ser320Phe) c.881C>T (p.Ser294Phe) n.411C>T c.862C>T (p.Pro288Ser) | |
17 | g.37731681G>C | CA398746470 | HNF1B | c.959C>G (p.Ser320Cys) c.881C>G (p.Ser294Cys) n.411C>G c.862C>G (p.Pro288Ala) | |
17 | g.37731681G>T | CA398746471 | HNF1B | c.959C>A (p.Ser320Tyr) c.881C>A (p.Ser294Tyr) n.411C>A c.862C>A (p.Pro288Thr) | |
17 | g.37731682A>C | CA398746473 | HNF1B | c.958T>G (p.Ser320Ala) c.880T>G (p.Ser294Ala) n.410T>G c.861T>G (p.Ala287=) | |
17 | g.37731682A>G | CA398746476 | HNF1B | c.958T>C (p.Ser320Pro) c.880T>C (p.Ser294Pro) n.410T>C c.861T>C (p.Ala287=) | |
17 | g.37731682A>T | CA398746478 | HNF1B | c.958T>A (p.Ser320Thr) c.880T>A (p.Ser294Thr) n.410T>A c.861T>A (p.Ala287=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.37731683G>A | CA398746484 | HNF1B | c.957C>T (p.Ser319=) c.879C>T (p.Ser293=) n.409C>T c.860C>T (p.Ala287Val) | |
17 | g.37731683G>C | CA398746486 | HNF1B | c.957C>G (p.Ser319Arg) c.879C>G (p.Ser293Arg) n.409C>G c.860C>G (p.Ala287Gly) | |
17 | g.37731683G>T | CA398746488 | HNF1B | c.957C>A (p.Ser319Arg) c.879C>A (p.Ser293Arg) n.409C>A c.860C>A (p.Ala287Asp) | |
17 | g.37731684C>A | CA398746490 | HNF1B | c.956G>T (p.Ser319Ile) c.878G>T (p.Ser293Ile) n.408G>T c.859G>T (p.Ala287Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.37731684C>G | CA398746492 | HNF1B | c.956G>C (p.Ser319Thr) c.878G>C (p.Ser293Thr) n.408G>C c.859G>C (p.Ala287Pro) | |
17 | g.37731684C>T | CA398746494 | HNF1B | c.956G>A (p.Ser319Asn) c.878G>A (p.Ser293Asn) n.408G>A c.859G>A (p.Ala287Thr) | |
17 | g.37731685T>A | CA398746505 | HNF1B | c.955A>T (p.Ser319Cys) c.877A>T (p.Ser293Cys) n.407A>T c.858A>T (p.Ile286=) | |
17 | g.37731685T>C | CA398746502 | HNF1B | c.955A>G (p.Ser319Gly) c.877A>G (p.Ser293Gly) n.407A>G c.858A>G (p.Ile286Met) | |
17 | g.37731685T>G | CA398746497 | HNF1B | c.955A>C (p.Ser319Arg) c.877A>C (p.Ser293Arg) n.407A>C c.858A>C (p.Ile286=) | |
17 | g.37731686A>C | CA398746508 | HNF1B | c.954T>G (p.Tyr318Ter) c.876T>G (p.Tyr292Ter) n.406T>G c.857T>G (p.Ile286Arg) | |
17 | g.37731686A>G | CA398746513 | HNF1B | c.954T>C (p.Tyr318=) c.876T>C (p.Tyr292=) n.406T>C c.857T>C (p.Ile286Thr) | |
17 | g.37731686A>T | CA398746515 | HNF1B | c.954T>A (p.Tyr318Ter) c.876T>A (p.Tyr292Ter) n.406T>A c.857T>A (p.Ile286Lys) | |
17 | g.37731687T>A | CA398746517 | HNF1B | c.953A>T (p.Tyr318Phe) c.875A>T (p.Tyr292Phe) n.405A>T c.856A>T (p.Ile286Leu) | |
17 | g.37731687T>C | CA8518966 | HNF1B | c.953A>G (p.Tyr318Cys) c.875A>G (p.Tyr292Cys) n.405A>G c.856A>G (p.Ile286Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.37731687T>G | CA398746519 | HNF1B | c.953A>C (p.Tyr318Ser) c.875A>C (p.Tyr292Ser) n.405A>C c.856A>C (p.Ile286Leu) | |
17 | g.37731687dup | CA913190772 | HNF1B | c.953dup (p.Tyr318Ter) c.875dup (p.Tyr292Ter) n.405dup c.856dup (p.Ile286AsnfsTer?) | ClinVar |
17 | g.37731688A>C | CA398746521 | HNF1B | c.952T>G (p.Tyr318Asp) c.874T>G (p.Tyr292Asp) n.404T>G c.855T>G (p.Pro285=) | |
17 | g.37731688A>G | CA398746523 | HNF1B | c.952T>C (p.Tyr318His) c.874T>C (p.Tyr292His) n.404T>C c.855T>C (p.Pro285=) | |
17 | g.37731688A>T | CA398746524 | HNF1B | c.952T>A (p.Tyr318Asn) c.874T>A (p.Tyr292Asn) n.404T>A c.855T>A (p.Pro285=) | |
17 | g.37731689G>A | CA398746527 | HNF1B | c.951C>T (p.Ala317=) c.873C>T (p.Ala291=) n.403C>T c.854C>T (p.Pro285Leu) | |
17 | g.37731689G>C | CA214371 | HNF1B | c.951C>G (p.Ala317=) c.873C>G (p.Ala291=) n.403C>G c.854C>G (p.Pro285Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.37731689G>T | CA398746529 | HNF1B | c.951C>A (p.Ala317=) c.873C>A (p.Ala291=) n.403C>A c.854C>A (p.Pro285His) | |
17 | g.37731690G>A | CA398746532 | HNF1B | c.950C>T (p.Ala317Val) c.872C>T (p.Ala291Val) n.402C>T c.853C>T (p.Pro285Ser) | |
17 | g.37731690G>C | CA398746539 | HNF1B | c.950C>G (p.Ala317Gly) c.872C>G (p.Ala291Gly) n.402C>G c.853C>G (p.Pro285Ala) | |
17 | g.37731690G>T | CA398746537 | HNF1B | c.950C>A (p.Ala317Asp) c.872C>A (p.Ala291Asp) n.402C>A c.853C>A (p.Pro285Thr) | |
17 | g.37731691del | CA913190773 | HNF1B | c.949del (p.Ala317ProfsTer10) c.871del (p.Ala291ProfsTer10) n.401del c.852del (p.Pro285LeufsTer2) | ClinVar |
17 | g.37731691C>A | CA214369 | HNF1B | c.949G>T (p.Ala317Ser) c.871G>T (p.Ala291Ser) n.401G>T c.852G>T (p.Thr284=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.37731691C>G | CA398746543 | HNF1B | c.949G>C (p.Ala317Pro) c.871G>C (p.Ala291Pro) n.401G>C c.852G>C (p.Thr284=) | |
17 | g.37731691C>T | CA398746541 | HNF1B | c.949G>A (p.Ala317Thr) c.871G>A (p.Ala291Thr) n.401G>A c.852G>A (p.Thr284=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.37731692G>A | CA8518967 | HNF1B | c.948C>T (p.Asp316=) c.870C>T (p.Asp290=) n.400C>T c.851C>T (p.Thr284Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.37731692G>C | CA398746549 | HNF1B | c.948C>G (p.Asp316Glu) c.870C>G (p.Asp290Glu) n.400C>G c.851C>G (p.Thr284Arg) | |
17 | g.37731692G>T | CA398746547 | HNF1B | c.948C>A (p.Asp316Glu) c.870C>A (p.Asp290Glu) n.400C>A c.851C>A (p.Thr284Lys) | |
17 | g.37731693T>A | CA398746551 | HNF1B | c.947A>T (p.Asp316Val) c.869A>T (p.Asp290Val) n.399A>T c.850A>T (p.Thr284Ser) | |
17 | g.37731693T>C | CA398746553 | HNF1B | c.947A>G (p.Asp316Gly) c.869A>G (p.Asp290Gly) n.399A>G c.850A>G (p.Thr284Ala) | |
17 | g.37731693T>G | CA398746556 | HNF1B | c.947A>C (p.Asp316Ala) c.869A>C (p.Asp290Ala) n.399A>C c.850A>C (p.Thr284Pro) | |
17 | g.37731694C>A | CA398746558 | HNF1B | c.946G>T (p.Asp316Tyr) c.868G>T (p.Asp290Tyr) n.398G>T c.849G>T (p.Trp283Cys) | |
17 | g.37731694C>G | CA398746560 | HNF1B | c.946G>C (p.Asp316His) c.868G>C (p.Asp290His) n.398G>C c.849G>C (p.Trp283Cys) | |
17 | g.37731694C>T | CA398746562 | HNF1B | c.946G>A (p.Asp316Asn) c.868G>A (p.Asp290Asn) n.398G>A c.849G>A (p.Trp283Ter) | |
17 | g.37731695C>A | CA398746564 | HNF1B | c.945G>T (p.Met315Ile) c.867G>T (p.Met289Ile) n.397G>T c.848G>T (p.Trp283Leu) | |
17 | g.37731695C>G | CA398746565 | HNF1B | c.945G>C (p.Met315Ile) c.867G>C (p.Met289Ile) n.397G>C c.848G>C (p.Trp283Ser) | |
17 | g.37731695C>T | CA398746566 | HNF1B | c.945G>A (p.Met315Ile) c.867G>A (p.Met289Ile) n.397G>A c.848G>A (p.Trp283Ter) | dbSNP |