Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.37739390_37739391del	CA2576244082	HNF1B	c.544+52_544+53del (n.544+52_544+53del)
17	g.37739388_37739393del	CA2637449173	HNF1B	c.544+48_544+53del (n.544+48_544+53del)	gnomAD v4
17	g.37739389G>T	CA8519055	HNF1B	c.544+51C>A (n.544+51C>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.37739391G>A	CA626207266	HNF1B	c.544+49C>T (n.544+49C>T)	dbSNP gnomAD v2 gnomAD v4
17	g.37739393del	CA2576244083	HNF1B	c.544+49del (n.544+49del)
17	g.37739392G>A	CA290288541	HNF1B	c.544+48C>T (n.544+48C>T)	dbSNP gnomAD v3 gnomAD v4
17	g.37739392G>T	CA2576244084	HNF1B	c.544+48C>A (n.544+48C>A)
17	g.37739392_37739416dup	CA2637449177	HNF1B	c.544+24_544+48dup (n.544+24_544+48dup)	gnomAD v4
17	g.37739393G>A	CA8519056	HNF1B	c.544+47C>T (n.544+47C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.37739393G>T	CA2576244085	HNF1B	c.544+47C>A (n.544+47C>A)	gnomAD v4
17	g.37739396A>G	CA2637449178	HNF1B	c.544+44T>C (n.544+44T>C)	gnomAD v4
17	g.37739398G>A	CA290288549	HNF1B	c.544+42C>T (n.544+42C>T)	dbSNP
17	g.37739399G>A	CA8519057	HNF1B	c.544+41C>T (n.544+41C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.37739401C>A	CA2637449179	HNF1B	c.544+39G>T (n.544+39G>T)	gnomAD v4
17	g.37739401C>T	CA8519058	HNF1B	c.544+39G>A (n.544+39G>A)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.37739403C>A	CA2809374070	HNF1B	c.544+37G>T (n.544+37G>T)
17	g.37739403C>T	CA8519059	HNF1B	c.544+37G>A (n.544+37G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.37739405T>C	CA2637449180	HNF1B	c.544+35A>G (n.544+35A>G)	gnomAD v4
17	g.37739406C>A	CA2733206292	HNF1B	c.544+34G>T (n.544+34G>T)	dbSNP
17	g.37739406C>T	CA8519060	HNF1B	c.544+34G>A (n.544+34G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.37739408G>A	CA2637449181	HNF1B	c.544+32C>T (n.544+32C>T)	gnomAD v4
17	g.37739409G>A	CA8519061	HNF1B	c.544+31C>T (n.544+31C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.37739409G>T	CA2637449182	HNF1B	c.544+31C>A (n.544+31C>A)	gnomAD v4
17	g.37739410T>C	CA2733259526	HNF1B	c.544+30A>G (n.544+30A>G)	dbSNP
17	g.37739410T>G	CA626207267	HNF1B	c.544+30A>C (n.544+30A>C)	dbSNP gnomAD v2 gnomAD v4
17	g.37739411T>A	CA2637449183	HNF1B	c.544+29A>T (n.544+29A>T)	gnomAD v4
17	g.37739412G>A	CA8519062	HNF1B	c.544+28C>T (n.544+28C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.37739412G>T	CA2637449184	HNF1B	c.544+28C>A (n.544+28C>A)	gnomAD v4
17	g.37739419_37739424del	CA2637449185	HNF1B	c.544+23_544+28del (n.544+23_544+28del)	gnomAD v4
17	g.37739414G>T	CA2637449186	HNF1B	c.544+26C>A (n.544+26C>A)	gnomAD v4
17	g.37739415G>A	CA626207268	HNF1B	c.544+25C>T (n.544+25C>T)	dbSNP gnomAD v2 gnomAD v4
17	g.37739415G>T	CA2637449187	HNF1B	c.544+25C>A (n.544+25C>A)	gnomAD v4
17	g.37739416C>T	CA290288582	HNF1B	c.544+24G>A (n.544+24G>A)	dbSNP
17	g.37739418G>C	CA8519063	HNF1B	c.544+22C>G (n.544+22C>G)	dbSNP ExAC gnomAD v2 gnomAD v3 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)
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=)

Number of alleles fetched