Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.37744630_37744650dup	CA8519125	HNF1B	c.235_255dup (p.Asp85_Tyr86insGlySerGluAspGlyAspAsp)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.37744642C>A	CA398753578	HNF1B	c.243G>T (p.Glu81Asp)
17	g.37744642C>G	CA398753580	HNF1B	c.243G>C (p.Glu81Asp)	dbSNP gnomAD v3 gnomAD v4
17	g.37744642C>T	CA499880072	HNF1B	c.243G>A (p.Glu81=)
17	g.37744643T>A	CA398753583	HNF1B	c.242A>T (p.Glu81Val)
17	g.37744643T>C	CA398753586	HNF1B	c.242A>G (p.Glu81Gly)
17	g.37744643T>G	CA398753588	HNF1B	c.242A>C (p.Glu81Ala)
17	g.37744644C>A	CA398753594	HNF1B	c.241G>T (p.Glu81Ter)	ClinVar dbSNP
17	g.37744644C>G	CA398753596	HNF1B	c.241G>C (p.Glu81Gln)
17	g.37744644C>T	CA398753591	HNF1B	c.241G>A (p.Glu81Lys)	gnomAD v4
17	g.37744645G>A	CA8519128	HNF1B	c.240C>T (p.Ser80=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.37744645G>C	CA499880077	HNF1B	c.240C>G (p.Ser80=)	ClinVar
17	g.37744645G>T	CA499880075	HNF1B	c.240C>A (p.Ser80=)
17	g.37744646G>A	CA290293142	HNF1B	c.239C>T (p.Ser80Phe)	ClinVar dbSNP gnomAD v4
17	g.37744646G>C	CA398753601	HNF1B	c.239C>G (p.Ser80Cys)
17	g.37744646G>T	CA398753599	HNF1B	c.239C>A (p.Ser80Tyr)	gnomAD v4
17	g.37744647A>C	CA398753606	HNF1B	c.238T>G (p.Ser80Ala)
17	g.37744647A>G	CA398753607	HNF1B	c.238T>C (p.Ser80Pro)
17	g.37744647A>T	CA398753611	HNF1B	c.238T>A (p.Ser80Thr)
17	g.37744648G>A	CA8519129	HNF1B	c.237C>T (p.Gly79=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.37744648G>C	CA499880079	HNF1B	c.237C>G (p.Gly79=)
17	g.37744648G>T	CA499880080	HNF1B	c.237C>A (p.Gly79=)
17	g.37744649C>A	CA8519130	HNF1B	c.236G>T (p.Gly79Val)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.37744649C>G	CA398753614	HNF1B	c.236G>C (p.Gly79Ala)	dbSNP gnomAD v3 gnomAD v4
17	g.37744649C>T	CA398753617	HNF1B	c.236G>A (p.Gly79Asp)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.37744650C>A	CA398753624	HNF1B	c.235G>T (p.Gly79Cys)	gnomAD v4
17	g.37744650C>G	CA398753627	HNF1B	c.235G>C (p.Gly79Arg)
17	g.37744650C>T	CA398753629	HNF1B	c.235G>A (p.Gly79Ser)	dbSNP
17	g.37744651C>A	CA398753631	HNF1B	c.234G>T (p.Glu78Asp)
17	g.37744651C>G	CA398753634	HNF1B	c.234G>C (p.Glu78Asp)	ClinVar
17	g.37744651C>T	CA499880082	HNF1B	c.234G>A (p.Glu78=)
17	g.37744652T>A	CA398753647	HNF1B	c.233A>T (p.Glu78Val)
17	g.37744652T>C	CA398753641	HNF1B	c.233A>G (p.Glu78Gly)
17	g.37744652T>G	CA398753644	HNF1B	c.233A>C (p.Glu78Ala)	ClinVar
17	g.37744652_37744655del	CA658653839	HNF1B	c.230_233del (p.Asp77GlyfsTer?)	ClinVar dbSNP
17	g.37744653C>A	CA398753654	HNF1B	c.232G>T (p.Glu78Ter)	ClinVar gnomAD v4
17	g.37744653C>G	CA398753656	HNF1B	c.232G>C (p.Glu78Gln)	gnomAD v4
17	g.37744653C>T	CA398753658	HNF1B	c.232G>A (p.Glu78Lys)	gnomAD v4
17	g.37744654G>A	CA499880085	HNF1B	c.231C>T (p.Asp77=)
17	g.37744654G>C	CA290293155	HNF1B	c.231C>G (p.Asp77Glu)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.37744654G>T	CA398753665	HNF1B	c.231C>A (p.Asp77Glu)
17	g.37744655T>A	CA398753668	HNF1B	c.230A>T (p.Asp77Val)
17	g.37744655T>C	CA398753671	HNF1B	c.230A>G (p.Asp77Gly)	dbSNP
17	g.37744655T>G	CA398753673	HNF1B	c.230A>C (p.Asp77Ala)
17	g.37744656C>A	CA398753678	HNF1B	c.229G>T (p.Asp77Tyr)
17	g.37744656C>G	CA398753681	HNF1B	c.229G>C (p.Asp77His)	dbSNP gnomAD v2 gnomAD v4
17	g.37744656C>T	CA398753684	HNF1B	c.229G>A (p.Asp77Asn)
17	g.37744657G>A	CA499880090	HNF1B	c.228C>T (p.Gly76=)	gnomAD v4
17	g.37744657G>C	CA499880091	HNF1B	c.228C>G (p.Gly76=)
17	g.37744657G>T	CA499880092	HNF1B	c.228C>A (p.Gly76=)	gnomAD v4

Number of alleles fetched