Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.37739489_37739490del	CA1139665506	HNF1B	c.495_496del (p.Ala166ArgfsTer?) c.495_496del (p.Ala166ArgfsTer29)	ClinVar dbSNP
17	g.37739490C>A	CA398751240	HNF1B	c.494G>T (p.Arg165Leu)
17	g.37739490C>G	CA398751241	HNF1B	c.494G>C (p.Arg165Pro)	ClinVar
17	g.37739490C>T	CA122605	HNF1B	c.494G>A (p.Arg165His)	ClinVar dbSNP
17	g.37739491G>A	CA398751247	HNF1B	c.493C>T (p.Arg165Cys)	ClinVar gnomAD v4
17	g.37739491G>C	CA398751244	HNF1B	c.493C>G (p.Arg165Gly)
17	g.37739491G>T	CA398751245	HNF1B	c.493C>A (p.Arg165Ser)
17	g.37739492C>A	CA398751248	HNF1B	c.492G>T (p.Lys164Asn)
17	g.37739492C>G	CA398751250	HNF1B	c.492G>C (p.Lys164Asn)
17	g.37739492C>T	CA499603879	HNF1B	c.492G>A (p.Lys164=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.37739493T>A	CA398751252	HNF1B	c.491A>T (p.Lys164Met)
17	g.37739493T>C	CA398751253	HNF1B	c.491A>G (p.Lys164Arg)	dbSNP gnomAD v2 gnomAD v4
17	g.37739493T>G	CA398751254	HNF1B	c.491A>C (p.Lys164Thr)
17	g.37739494T>A	CA398751256	HNF1B	c.490A>T (p.Lys164Ter)
17	g.37739494T>C	CA398751259	HNF1B	c.490A>G (p.Lys164Glu)	ClinVar
17	g.37739494T>G	CA398751258	HNF1B	c.490A>C (p.Lys164Gln)	ClinVar
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

Number of alleles fetched