Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
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)

Number of alleles fetched