Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.37739495C>A	CA398751261	HNF1B	c.489G>T (p.Gln163His)	dbSNP
17	g.37739495C>G	CA398751262	HNF1B	c.489G>C (p.Gln163His)
17	g.37739495C>T	CA499603883	HNF1B	c.489G>A (p.Gln163=)
17	g.37739496T>A	CA398751264	HNF1B	c.488A>T (p.Gln163Leu)
17	g.37739496T>C	CA398751266	HNF1B	c.488A>G (p.Gln163Arg)
17	g.37739496T>G	CA398751267	HNF1B	c.488A>C (p.Gln163Pro)
17	g.37739497G>A	CA398751269	HNF1B	c.487C>T (p.Gln163Ter)
17	g.37739497G>C	CA398751270	HNF1B	c.487C>G (p.Gln163Glu)	dbSNP gnomAD v4
17	g.37739497G>T	CA398751272	HNF1B	c.487C>A (p.Gln163Lys)	ClinVar dbSNP
17	g.37739499del	CA913190791	HNF1B	c.487del (p.Gln163ArgfsTer?)	ClinVar
17	g.37739498G>A	CA499603887	HNF1B	c.486C>T (p.Thr162=)	dbSNP gnomAD v2 gnomAD v4
17	g.37739498G>C	CA499603888	HNF1B	c.486C>G (p.Thr162=)
17	g.37739498G>T	CA499603889	HNF1B	c.486C>A (p.Thr162=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.37739499G>A	CA398751274	HNF1B	c.485C>T (p.Thr162Ile)	dbSNP gnomAD v3 gnomAD v4
17	g.37739499G>C	CA398751275	HNF1B	c.485C>G (p.Thr162Ser)
17	g.37739499G>T	CA398751276	HNF1B	c.485C>A (p.Thr162Asn)
17	g.37739500del	CA913190792	HNF1B	c.484del (p.Thr162ProfsTer?)	ClinVar
17	g.37739500T>A	CA398751282	HNF1B	c.484A>T (p.Thr162Ser)
17	g.37739500T>C	CA398751280	HNF1B	c.484A>G (p.Thr162Ala)
17	g.37739500T>G	CA398751279	HNF1B	c.484A>C (p.Thr162Pro)
17	g.37739503_37739577del	CA913190793	HNF1B	c.410_484del (p.Arg137_Lys161del)	ClinVar
17	g.37739501C>A	CA398751283	HNF1B	c.483G>T (p.Lys161Asn)
17	g.37739501C>G	CA398751286	HNF1B	c.483G>C (p.Lys161Asn)
17	g.37739501C>T	CA8519073	HNF1B	c.483G>A (p.Lys161=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.37739502T>A	CA398751288	HNF1B	c.482A>T (p.Lys161Met)
17	g.37739502T>C	CA290288642	HNF1B	c.482A>G (p.Lys161Arg)	dbSNP
17	g.37739502T>G	CA398751289	HNF1B	c.482A>C (p.Lys161Thr)
17	g.37739503T>A	CA398751292	HNF1B	c.481A>T (p.Lys161Ter)	ClinVar dbSNP
17	g.37739503T>C	CA398751294	HNF1B	c.481A>G (p.Lys161Glu)
17	g.37739503T>G	CA398751293	HNF1B	c.481A>C (p.Lys161Gln)
17	g.37739504C>A	CA398751296	HNF1B	c.480G>T (p.Met160Ile)
17	g.37739504C>G	CA398751300	HNF1B	c.480G>C (p.Met160Ile)
17	g.37739504C>T	CA398751298	HNF1B	c.480G>A (p.Met160Ile)	ClinVar
17	g.37739505A>C	CA10606095	HNF1B	c.479T>G (p.Met160Arg)	ClinVar dbSNP
17	g.37739505A>G	CA398751302	HNF1B	c.479T>C (p.Met160Thr)	ClinVar
17	g.37739505A>T	CA398751303	HNF1B	c.479T>A (p.Met160Lys)
17	g.37739506T>A	CA398751305	HNF1B	c.478A>T (p.Met160Leu)
17	g.37739506T>C	CA398751307	HNF1B	c.478A>G (p.Met160Val)	ClinVar
17	g.37739506T>G	CA398751308	HNF1B	c.478A>C (p.Met160Leu)
17	g.37739507del	CA214360	HNF1B	c.477del (p.Met160Ter)	ClinVar dbSNP
17	g.37739507A>C	CA499603899	HNF1B	c.477T>G (p.Pro159=)
17	g.37739507A>G	CA499603900	HNF1B	c.477T>C (p.Pro159=)	ClinVar dbSNP
17	g.37739507A>T	CA499603902	HNF1B	c.477T>A (p.Pro159=)	dbSNP gnomAD v2 gnomAD v4
17	g.37739508G>A	CA398751311	HNF1B	c.476C>T (p.Pro159Leu)	ClinVar gnomAD v4
17	g.37739508G>C	CA398751312	HNF1B	c.476C>G (p.Pro159Arg)
17	g.37739508G>T	CA398751314	HNF1B	c.476C>A (p.Pro159His)
17	g.37739509G>A	CA398751319	HNF1B	c.475C>T (p.Pro159Ser)	ClinVar
17	g.37739509G>C	CA398751316	HNF1B	c.475C>G (p.Pro159Ala)
17	g.37739509G>T	CA398751317	HNF1B	c.475C>A (p.Pro159Thr)
17	g.37739510G>A	CA499603904	HNF1B	c.474C>T (p.Thr158=)	dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched