Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
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

Number of alleles fetched