Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.25161123G>A	CA425352881	POMC	c.762C>T (p.Phe254=)
2	g.25161123G>C	CA346066106	POMC	c.762C>G (p.Phe254Leu)
2	g.25161123G>T	CA346066107	POMC	c.762C>A (p.Phe254Leu)
2	g.25161124A>C	CA346066110	POMC	c.761T>G (p.Phe254Cys)
2	g.25161124A>G	CA346066109	POMC	c.761T>C (p.Phe254Ser)
2	g.25161124A>T	CA346066108	POMC	c.761T>A (p.Phe254Tyr)
2	g.25161125A=	CA1239226875	POMC	c.760T= (p.Phe254=)
2	g.25161125A>C	CA346066111	POMC	c.760T>G (p.Phe254Val)
2	g.25161125A>G	CA346066112	POMC	c.760T>C (p.Phe254Leu)
2	g.25161125A>T	CA1555216	POMC	c.760T>A (p.Phe254Ile)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.25161126C>A	CA425352888	POMC	c.759G>T (p.Leu253=)
2	g.25161126C>G	CA425352889	POMC	c.759G>C (p.Leu253=)
2	g.25161126C>T	CA425352890	POMC	c.759G>A (p.Leu253=)
2	g.25161127A=	CA1239226879	POMC	c.758T= (p.Leu253=)
2	g.25161127A>C	CA346066113	POMC	c.758T>G (p.Leu253Arg)
2	g.25161127A>G	CA346066114	POMC	c.758T>C (p.Leu253Pro)
2	g.25161127A>T	CA1555217	POMC	c.758T>A (p.Leu253Gln)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.25161128G>A	CA425352891	POMC	c.757C>T (p.Leu253=)
2	g.25161128G>C	CA346066115	POMC	c.757C>G (p.Leu253Val)
2	g.25161128G>T	CA346066116	POMC	c.757C>A (p.Leu253Met)
2	g.25161129C>A	CA1555218	POMC	c.756G>T (p.Thr252=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.25161129C=	CA1239226882	POMC	c.756G= (p.Thr252=)
2	g.25161129C>G	CA425352900	POMC	c.756G>C (p.Thr252=)	dbSNP
2	g.25161129C>T	CA425352894	POMC	c.756G>A (p.Thr252=)
2	g.25161130G>A	CA1555219	POMC	c.755C>T (p.Thr252Met)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.25161130G>C	CA346066117	POMC	c.755C>G (p.Thr252Arg)	gnomAD v4
2	g.25161130G=	CA1239226887	POMC	c.755C= (p.Thr252=)
2	g.25161130G>T	CA346066118	POMC	c.755C>A (p.Thr252Lys)
2	g.25161131T>A	CA346066121	POMC	c.754A>T (p.Thr252Ser)
2	g.25161131T>C	CA346066120	POMC	c.754A>G (p.Thr252Ala)
2	g.25161131T>G	CA346066119	POMC	c.754A>C (p.Thr252Pro)
2	g.25161132C>A	CA425352915	POMC	c.753G>T (p.Val251=)
2	g.25161132C>G	CA425352919	POMC	c.753G>C (p.Val251=)
2	g.25161132C>T	CA425352921	POMC	c.753G>A (p.Val251=)	gnomAD v4
2	g.25161133A=	CA1239226890	POMC	c.752T= (p.Val251=)
2	g.25161133A>C	CA346066122	POMC	c.752T>G (p.Val251Gly)	dbSNP
2	g.25161133A>G	CA346066124	POMC	c.752T>C (p.Val251Ala)
2	g.25161133A>T	CA346066123	POMC	c.752T>A (p.Val251Glu)	gnomAD v4
2	g.25161134C>A	CA346066125	POMC	c.751G>T (p.Val251Leu)
2	g.25161134C>G	CA346066126	POMC	c.751G>C (p.Val251Leu)
2	g.25161134C>T	CA346066127	POMC	c.751G>A (p.Val251Met)
2	g.25161135C>A	CA425352922	POMC	c.750G>T (p.Leu250=)
2	g.25161135C=	CA1239226893	POMC	c.750G= (p.Leu250=)
2	g.25161135C>G	CA425352923	POMC	c.750G>C (p.Leu250=)
2	g.25161135C>T	CA1555220	POMC	c.750G>A (p.Leu250=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.25161136A=	CA1239226897	POMC	c.749T= (p.Leu250=)
2	g.25161136A>C	CA346066128	POMC	c.749T>G (p.Leu250Arg)	gnomAD v4
2	g.25161136A>G	CA346066129	POMC	c.749T>C (p.Leu250Pro)	gnomAD v4
2	g.25161136A>T	CA346066130	POMC	c.749T>A (p.Leu250Gln)	dbSNP gnomAD v2 gnomAD v4
2	g.25161137G>A	CA425352928	POMC	c.748C>T (p.Leu250=)	gnomAD v4
2	g.25161137G>C	CA346066131	POMC	c.748C>G (p.Leu250Val)
2	g.25161137G>T	CA346066132	POMC	c.748C>A (p.Leu250Met)
2	g.25161138G>A	CA1555221	POMC	c.747C>T (p.Pro249=)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2	g.25161138G>C	CA425352934	POMC	c.747C>G (p.Pro249=)	gnomAD v4
2	g.25161138G=	CA1239226900	POMC	c.747C= (p.Pro249=)
2	g.25161138G>T	CA1555222	POMC	c.747C>A (p.Pro249=)	dbSNP ExAC gnomAD v2
2	g.25161139G>A	CA346066135	POMC	c.746C>T (p.Pro249Leu)	gnomAD v4
2	g.25161139G>C	CA346066134	POMC	c.746C>G (p.Pro249Arg)
2	g.25161139G>T	CA346066133	POMC	c.746C>A (p.Pro249His)
2	g.25161140G>A	CA1555223	POMC	c.745C>T (p.Pro249Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.25161140G>C	CA346066136	POMC	c.745C>G (p.Pro249Ala)
2	g.25161140G=	CA1239226905	POMC	c.745C= (p.Pro249=)
2	g.25161140G>T	CA346066137	POMC	c.745C>A (p.Pro249Thr)
2	g.25161141C>A	CA425352945	POMC	c.744G>T (p.Thr248=)	dbSNP gnomAD v2
2	g.25161141C=	CA1239226910	POMC	c.744G= (p.Thr248=)
2	g.25161141C>G	CA425352943	POMC	c.744G>C (p.Thr248=)
2	g.25161141C>T	CA1555224	POMC	c.744G>A (p.Thr248=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.25161142G>A	CA1555225	POMC	c.743C>T (p.Thr248Met)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2	g.25161142G>C	CA346066138	POMC	c.743C>G (p.Thr248Arg)
2	g.25161142G=	CA1239226915	POMC	c.743C= (p.Thr248=)
2	g.25161142G>T	CA346066139	POMC	c.743C>A (p.Thr248Lys)
2	g.25161143T>A	CA346066140	POMC	c.742A>T (p.Thr248Ser)
2	g.25161143T>C	CA1555226	POMC	c.742A>G (p.Thr248Ala)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.25161143T>G	CA346066141	POMC	c.742A>C (p.Thr248Pro)
2	g.25161143T=	CA1239226918	POMC	c.742A= (p.Thr248=)
2	g.25161144C>A	CA346066142	POMC	c.741G>T (p.Gln247His)
2	g.25161144C>G	CA346066143	POMC	c.741G>C (p.Gln247His)	dbSNP
2	g.25161144C>T	CA425352955	POMC	c.741G>A (p.Gln247=)	dbSNP
2	g.25161144_25161145delinsCT	CA1239226924	POMC	c.740_741delinsAG (p.Gln247=)
2	g.25161144_25161146delinsCTG	CA1239226922	POMC	c.739_741delinsCAG (p.Gln247=)
2	g.25161145del	CA43684317	POMC	c.740del (p.Gln247ArgfsTer5)	dbSNP gnomAD v3 gnomAD v4
2	g.25161145T>A	CA346066145	POMC	c.740A>T (p.Gln247Leu)
2	g.25161145T>C	CA43684318	POMC	c.740A>G (p.Gln247Arg)	dbSNP gnomAD v4
2	g.25161145T>G	CA346066144	POMC	c.740A>C (p.Gln247Pro)
2	g.25161145T=	CA1239226930	POMC	c.740A= (p.Gln247=)
2	g.25161145_25161146del	CA1239226926	POMC	c.739_740del (p.Gln247AspfsTer?)	dbSNP
2	g.25161146G>A	CA346066146	POMC	c.739C>T (p.Gln247Ter) c.739C>T
2	g.25161146G>C	CA346066147	POMC	c.739C>G (p.Gln247Glu) c.739C>G
2	g.25161146G>T	CA346066148	POMC	c.739C>A (p.Gln247Lys) c.739C>A
2	g.25161147G>A	CA425352960	POMC	c.738C>T (p.Ser246=)
2	g.25161147G>C	CA346066149	POMC	c.738C>G (p.Ser246Arg)	gnomAD v4
2	g.25161147G>T	CA346066150	POMC	c.738C>A (p.Ser246Arg)	gnomAD v4
2	g.25161148C>A	CA346066151	POMC	c.737G>T (p.Ser246Ile)
2	g.25161148C>G	CA346066152	POMC	c.737G>C (p.Ser246Thr)
2	g.25161148C>T	CA346066153	POMC	c.737G>A (p.Ser246Asn)
2	g.25161149T>A	CA346066154	POMC	c.736A>T (p.Ser246Cys)
2	g.25161149T>C	CA346066155	POMC	c.736A>G (p.Ser246Gly)	dbSNP
2	g.25161149T>G	CA346066156	POMC	c.736A>C (p.Ser246Arg)	dbSNP gnomAD v2 gnomAD v4
2	g.25161149T=	CA1239226933	POMC	c.736A= (p.Ser246=)
2	g.25161150C>A	CA346066157	POMC	c.735G>T (p.Lys245Asn)
2	g.25161150C=	CA1239226937	POMC	c.735G= (p.Lys245=)
2	g.25161150C>G	CA346066158	POMC	c.735G>C (p.Lys245Asn)
2	g.25161150C>T	CA425352969	POMC	c.735G>A (p.Lys245=)	dbSNP gnomAD v2 gnomAD v4
2	g.25161151T>A	CA346066161	POMC	c.734A>T (p.Lys245Met)
2	g.25161151T>C	CA346066159	POMC	c.734A>G (p.Lys245Arg)	gnomAD v4
2	g.25161151T>G	CA346066160	POMC	c.734A>C (p.Lys245Thr)
2	g.25161152T>A	CA346066162	POMC	c.733A>T (p.Lys245Ter)
2	g.25161152T>C	CA346066163	POMC	c.733A>G (p.Lys245Glu)
2	g.25161152T>G	CA346066164	POMC	c.733A>C (p.Lys245Gln)
2	g.25161153C>A	CA346066165	POMC	c.732G>T (p.Glu244Asp)
2	g.25161153C=	CA1239226941	POMC	c.732G= (p.Glu244=)
2	g.25161153C>G	CA346066166	POMC	c.732G>C (p.Glu244Asp)	dbSNP gnomAD v2 gnomAD v4
2	g.25161153C>T	CA425352974	POMC	c.732G>A (p.Glu244=)
2	g.25161154T>A	CA346066167	POMC	c.731A>T (p.Glu244Val)
2	g.25161154T>C	CA346066168	POMC	c.731A>G (p.Glu244Gly)
2	g.25161154T>G	CA346066169	POMC	c.731A>C (p.Glu244Ala)
2	g.25161155C>A	CA346066170	POMC	c.730G>T (p.Glu244Ter)	gnomAD v4
2	g.25161155C=	CA1239226947	POMC	c.730G= (p.Glu244=)
2	g.25161155C>G	CA346066171	POMC	c.730G>C (p.Glu244Gln)	ClinVar dbSNP gnomAD v4
2	g.25161155C>T	CA346066172	POMC	c.730G>A (p.Glu244Lys)
2	g.25161156G>A	CA1555227	POMC	c.729C>T (p.Ser243=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.25161156G>C	CA425352986	POMC	c.729C>G (p.Ser243=)	dbSNP
2	g.25161156G=	CA1239226955	POMC	c.729C= (p.Ser243=)
2	g.25161156G>T	CA425352983	POMC	c.729C>A (p.Ser243=)
2	g.25161157dup	CA531760828	POMC	c.729dup (p.Glu244ArgfsTer?)	dbSNP gnomAD v2
2	g.25161157G>A	CA346066174	POMC	c.728C>T (p.Ser243Phe)	gnomAD v4
2	g.25161157G>C	CA346066175	POMC	c.728C>G (p.Ser243Cys)
2	g.25161157G>T	CA346066173	POMC	c.728C>A (p.Ser243Tyr)
2	g.25161158A>C	CA346066177	POMC	c.727T>G (p.Ser243Ala)
2	g.25161158A>G	CA346066176	POMC	c.727T>C (p.Ser243Pro)	gnomAD v4
2	g.25161158A>T	CA346066178	POMC	c.727T>A (p.Ser243Thr)	gnomAD v4
2	g.25161158_25161159delinsAG	CA1239226957	POMC	c.726_727delinsCT (p.Thr242=)
2	g.25161159G>A	CA425352992	POMC	c.726C>T (p.Thr242=)
2	g.25161159G>C	CA425352995	POMC	c.726C>G (p.Thr242=)
2	g.25161159G>T	CA425352993	POMC	c.726C>A (p.Thr242=)
2	g.25161160del	CA1555228	POMC	c.726del (p.Ser243ProfsTer9) c.726del (p.Ser243ProfsTer?)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.25161160G>A	CA346066179	POMC	c.725C>T (p.Thr242Ile)	gnomAD v4
2	g.25161160G>C	CA346066180	POMC	c.725C>G (p.Thr242Ser)
2	g.25161160G>T	CA346066181	POMC	c.725C>A (p.Thr242Asn)	gnomAD v4
2	g.25161161T>A	CA346066182	POMC	c.724A>T (p.Thr242Ser)
2	g.25161161T>C	CA346066183	POMC	c.724A>G (p.Thr242Ala)	gnomAD v4
2	g.25161161T>G	CA346066184	POMC	c.724A>C (p.Thr242Pro)
2	g.25161162del	CA2658163188	POMC	c.723del (p.Met241IlefsTer11) c.723del (p.Met241IlefsTer?)	gnomAD v4
2	g.25161162C>A	CA346066185	POMC	c.723G>T (p.Met241Ile)
2	g.25161162C>G	CA346066186	POMC	c.723G>C (p.Met241Ile)	gnomAD v4
2	g.25161162C>T	CA346066187	POMC	c.723G>A (p.Met241Ile)
2	g.25161163A=	CA1239226962	POMC	c.722T= (p.Met241=)
2	g.25161163A>C	CA346066188	POMC	c.722T>G (p.Met241Arg)
2	g.25161163A>G	CA1555229	POMC	c.722T>C (p.Met241Thr)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.25161163A>T	CA346066189	POMC	c.722T>A (p.Met241Lys)	dbSNP gnomAD v2 gnomAD v4
2	g.25161164T>A	CA346066190	POMC	c.721A>T (p.Met241Leu)
2	g.25161164T>C	CA346066191	POMC	c.721A>G (p.Met241Val)	gnomAD v4
2	g.25161164T>G	CA346066192	POMC	c.721A>C (p.Met241Leu)
2	g.25161165G>A	CA425353000	POMC	c.720C>T (p.Phe240=)	dbSNP gnomAD v2
2	g.25161165G>C	CA346066193	POMC	c.720C>G (p.Phe240Leu)
2	g.25161165G=	CA1239226965	POMC	c.720C= (p.Phe240=)
2	g.25161165G>T	CA346066194	POMC	c.720C>A (p.Phe240Leu)
2	g.25161166_25161171dup	CA2658163189	POMC	c.715_720dup (p.Phe240_Met241insGlyPhe)	gnomAD v4
2	g.25161166A>C	CA346066195	POMC	c.719T>G (p.Phe240Cys)
2	g.25161166A>G	CA346066196	POMC	c.719T>C (p.Phe240Ser)
2	g.25161166A>T	CA346066197	POMC	c.719T>A (p.Phe240Tyr)
2	g.25161168dup	CA1239226968	POMC	c.719dup (p.Met241HisfsTer?)	dbSNP gnomAD v4
2	g.25161167A>C	CA346066198	POMC	c.718T>G (p.Phe240Val)
2	g.25161167A>G	CA346066199	POMC	c.718T>C (p.Phe240Leu)
2	g.25161167A>T	CA346066200	POMC	c.718T>A (p.Phe240Ile)
2	g.25161168A=	CA1239226971	POMC	c.717T= (p.Gly239=)
2	g.25161168A>C	CA1555230	POMC	c.717T>G (p.Gly239=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.25161168A>G	CA425353007	POMC	c.717T>C (p.Gly239=)
2	g.25161168A>T	CA425353008	POMC	c.717T>A (p.Gly239=)
2	g.25161169C>A	CA346066201	POMC	c.716G>T (p.Gly239Val)
2	g.25161169C=	CA1239226975	POMC	c.716G= (p.Gly239=)
2	g.25161169C>G	CA346066202	POMC	c.716G>C (p.Gly239Ala)
2	g.25161169C>T	CA346066203	POMC	c.716G>A (p.Gly239Asp)	ClinVar dbSNP gnomAD v4
2	g.25161170C>A	CA346066204	POMC	c.715G>T (p.Gly239Cys)
2	g.25161170C=	CA1239226979	POMC	c.715G= (p.Gly239=)
2	g.25161170C>G	CA346066205	POMC	c.715G>C (p.Gly239Arg)	dbSNP
2	g.25161170C>T	CA346066206	POMC	c.715G>A (p.Gly239Ser)	dbSNP gnomAD v2
2	g.25161173_25161180del	CA2658163190	POMC	c.708_715del (p.Tyr237PhefsTer?)	gnomAD v4
2	g.25161171G>A	CA425353013	POMC	c.714C>T (p.Gly238=)
2	g.25161171G>C	CA425353014	POMC	c.714C>G (p.Gly238=)
2	g.25161171G>T	CA425353016	POMC	c.714C>A (p.Gly238=)
2	g.25161172C>A	CA346066207	POMC	c.713G>T (p.Gly238Val)
2	g.25161172C>G	CA346066209	POMC	c.713G>C (p.Gly238Ala)
2	g.25161172C>T	CA346066208	POMC	c.713G>A (p.Gly238Asp)
2	g.25161173C>A	CA346066210	POMC	c.712G>T (p.Gly238Cys)
2	g.25161173C=	CA1239226982	POMC	c.712G= (p.Gly238=)
2	g.25161173C>G	CA346066211	POMC	c.712G>C (p.Gly238Arg)
2	g.25161173C>T	CA346066212	POMC	c.712G>A (p.Gly238Ser)	dbSNP gnomAD v2 COSMIC
2	g.25161174G>A	CA425353029	POMC	c.711C>T (p.Tyr237=)	dbSNP gnomAD v4
2	g.25161174G>C	CA346066213	POMC	c.711C>G (p.Tyr237Ter)	gnomAD v4
2	g.25161174G=	CA1239226986	POMC	c.711C= (p.Tyr237=)
2	g.25161174G>T	CA346066214	POMC	c.711C>A (p.Tyr237Ter)
2	g.25161175T>A	CA346066216	POMC	c.710A>T (p.Tyr237Phe)
2	g.25161175T>C	CA1555231	POMC	c.710A>G (p.Tyr237Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.25161175T>G	CA346066215	POMC	c.710A>C (p.Tyr237Ser)
2	g.25161175T=	CA1239226989	POMC	c.710A= (p.Tyr237=)
2	g.25161176A=	CA1239226993	POMC	c.709T= (p.Tyr237=)
2	g.25161176A>C	CA346066217	POMC	c.709T>G (p.Tyr237Asp)
2	g.25161176A>G	CA346066218	POMC	c.709T>C (p.Tyr237His)	gnomAD v4
2	g.25161176A>T	CA1555232	POMC	c.709T>A (p.Tyr237Asn)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.25161177G>A	CA425353039	POMC	c.708C>T (p.Arg236=)	gnomAD v4
2	g.25161177G>C	CA425353038	POMC	c.708C>G (p.Arg236=)
2	g.25161177G>T	CA425353037	POMC	c.708C>A (p.Arg236=)
2	g.25161178C>A	CA346066219	POMC	c.707G>T (p.Arg236Leu)
2	g.25161178C=	CA1239226996	POMC	c.707G= (p.Arg236=)
2	g.25161178C>G	CA346066220	POMC	c.707G>C (p.Arg236Pro)
2	g.25161178C>T	CA346066221	POMC	c.707G>A (p.Arg236His)	dbSNP
2	g.25161179_25161200dup	CA2658163191	POMC	c.686_707dup (p.Tyr237GlnfsTer?)	gnomAD v4
2	g.25161179G>A	CA346066222	POMC	c.706C>T (p.Arg236Cys)	gnomAD v4
2	g.25161179G>C	CA123053	POMC	c.706C>G (p.Arg236Gly)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.25161179G=	CA1239227000	POMC	c.706C= (p.Arg236=)
2	g.25161179G>T	CA346066223	POMC	c.706C>A (p.Arg236Ser)	gnomAD v4
2	g.25161180C>A	CA346066224	POMC	c.705G>T (p.Lys235Asn)
2	g.25161180C=	CA1239227005	POMC	c.705G= (p.Lys235=)
2	g.25161180C>G	CA346066225	POMC	c.705G>C (p.Lys235Asn)	dbSNP gnomAD v3 gnomAD v4
2	g.25161180C>T	CA425353045	POMC	c.705G>A (p.Lys235=)
2	g.25161181T>A	CA346066226	POMC	c.704A>T (p.Lys235Met)
2	g.25161181T>C	CA346066227	POMC	c.704A>G (p.Lys235Arg)
2	g.25161181T>G	CA346066228	POMC	c.704A>C (p.Lys235Thr)
2	g.25161182T>A	CA346066229	POMC	c.703A>T (p.Lys235Ter)
2	g.25161182T>C	CA346066230	POMC	c.703A>G (p.Lys235Glu)	gnomAD v4
2	g.25161182T>G	CA346066231	POMC	c.703A>C (p.Lys235Gln)
2	g.25161183G>A	CA425353050	POMC	c.702C>T (p.Asp234=)
2	g.25161183G>C	CA346066232	POMC	c.702C>G (p.Asp234Glu)	gnomAD v4
2	g.25161183G>T	CA346066233	POMC	c.702C>A (p.Asp234Glu)
2	g.25161184T>A	CA346066236	POMC	c.701A>T (p.Asp234Val)
2	g.25161184T>C	CA346066234	POMC	c.701A>G (p.Asp234Gly)
2	g.25161184T>G	CA346066235	POMC	c.701A>C (p.Asp234Ala)
2	g.25161185C>A	CA346066237	POMC	c.700G>T (p.Asp234Tyr)
2	g.25161185C>G	CA346066239	POMC	c.700G>C (p.Asp234His)
2	g.25161185C>T	CA346066238	POMC	c.700G>A (p.Asp234Asn)	COSMIC
2	g.25161186C>A	CA346066240	POMC	c.699G>T (p.Lys233Asn)
2	g.25161186C=	CA1239227008	POMC	c.699G= (p.Lys233=)
2	g.25161186C>G	CA346066241	POMC	c.699G>C (p.Lys233Asn)
2	g.25161186C>T	CA425353064	POMC	c.699G>A (p.Lys233=)	dbSNP gnomAD v3 gnomAD v4
2	g.25161187T>A	CA346066242	POMC	c.698A>T (p.Lys233Met)
2	g.25161187T>C	CA346066243	POMC	c.698A>G (p.Lys233Arg)	gnomAD v4
2	g.25161187T>G	CA346066244	POMC	c.698A>C (p.Lys233Thr)
2	g.25161188T>A	CA346066245	POMC	c.697A>T (p.Lys233Ter)
2	g.25161188T>C	CA346066246	POMC	c.697A>G (p.Lys233Glu)	dbSNP
2	g.25161188T>G	CA346066247	POMC	c.697A>C (p.Lys233Gln)	gnomAD v4
2	g.25161188T=	CA1239227012	POMC	c.697A= (p.Lys233=)
2	g.25161188_25161189delinsTG	CA1239227011	POMC	c.696_697delinsCA (p.Pro232=)
2	g.25161189G>A	CA43684337	POMC	c.696C>T (p.Pro232=)	dbSNP gnomAD v4
2	g.25161189G>C	CA425353072	POMC	c.696C>G (p.Pro232=)
2	g.25161189G=	CA1239227018	POMC	c.696C= (p.Pro232=)
2	g.25161189G>T	CA425353071	POMC	c.696C>A (p.Pro232=)
2	g.25161191dup	CA767172709	POMC	c.696dup (p.Lys233GlnfsTer?)	dbSNP
2	g.25161191del	CA346066248	POMC	c.696del (p.Lys233ArgfsTer9)	dbSNP
2	g.25161190G>A	CA346066249	POMC	c.695C>T (p.Pro232Leu)
2	g.25161190G>C	CA346066250	POMC	c.695C>G (p.Pro232Arg)
2	g.25161190G>T	CA346066251	POMC	c.695C>A (p.Pro232His)
2	g.25161191G>A	CA346066252	POMC	c.694C>T (p.Pro232Ser)	gnomAD v4
2	g.25161191G>C	CA346066254	POMC	c.694C>G (p.Pro232Ala)	dbSNP gnomAD v2 gnomAD v4
2	g.25161191G=	CA1239227020	POMC	c.694C= (p.Pro232=)
2	g.25161191G>T	CA346066253	POMC	c.694C>A (p.Pro232Thr)
2	g.25161192C>A	CA425353081	POMC	c.693G>T (p.Pro231=)
2	g.25161192C=	CA1239227022	POMC	c.693G= (p.Pro231=)
2	g.25161192C>G	CA425353083	POMC	c.693G>C (p.Pro231=)	dbSNP
2	g.25161192C>T	CA1555233	POMC	c.693G>A (p.Pro231=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.25161193G>A	CA1555234	POMC	c.692C>T (p.Pro231Leu)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.25161193G>C	CA346066255	POMC	c.692C>G (p.Pro231Arg)
2	g.25161193G=	CA1239227025	POMC	c.692C= (p.Pro231=)
2	g.25161193G>T	CA346066256	POMC	c.692C>A (p.Pro231Gln)	gnomAD v4
2	g.25161194G>A	CA346066257	POMC	c.691C>T (p.Pro231Ser)
2	g.25161194G>C	CA346066258	POMC	c.691C>G (p.Pro231Ala)
2	g.25161194G>T	CA346066259	POMC	c.691C>A (p.Pro231Thr)
2	g.25161195G>A	CA1555235	POMC	c.690C>T (p.Ser230=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.25161195G>C	CA346066260	POMC	c.690C>G (p.Ser230Arg)	gnomAD v4
2	g.25161195G=	CA1239227028	POMC	c.690C= (p.Ser230=)
2	g.25161195G>T	CA346066261	POMC	c.690C>A (p.Ser230Arg)
2	g.25161196C>A	CA346066264	POMC	c.689G>T (p.Ser230Ile)
2	g.25161196C>G	CA346066263	POMC	c.689G>C (p.Ser230Thr)
2	g.25161196C>T	CA346066262	POMC	c.689G>A (p.Ser230Asn)
2	g.25161197T>A	CA346066267	POMC	c.688A>T (p.Ser230Cys)
2	g.25161197T>C	CA346066265	POMC	c.688A>G (p.Ser230Gly)
2	g.25161197T>G	CA346066266	POMC	c.688A>C (p.Ser230Arg)
2	g.25161198G>A	CA425353108	POMC	c.687C>T (p.Gly229=)	dbSNP gnomAD v2 gnomAD v4
2	g.25161198G>C	CA425353104	POMC	c.687C>G (p.Gly229=)
2	g.25161198G=	CA1239227032	POMC	c.687C= (p.Gly229=)
2	g.25161198G>T	CA425353107	POMC	c.687C>A (p.Gly229=)	gnomAD v4
2	g.25161199C>A	CA346066268	POMC	c.686G>T (p.Gly229Val)
2	g.25161199C>G	CA346066269	POMC	c.686G>C (p.Gly229Ala)
2	g.25161199C>T	CA346066270	POMC	c.686G>A (p.Gly229Asp)	gnomAD v4
2	g.25161200C>A	CA346066272	POMC	c.685G>T (p.Gly229Cys)
2	g.25161200C=	CA1239227035	POMC	c.685G= (p.Gly229=)
2	g.25161200C>G	CA346066271	POMC	c.685G>C (p.Gly229Arg)
2	g.25161200C>T	CA1555236	POMC	c.685G>A (p.Gly229Ser)	dbSNP ExAC
2	g.25161201C>A	CA346066273	POMC	c.684G>T (p.Trp228Cys)	COSMIC
2	g.25161201C=	CA1239227037	POMC	c.684G= (p.Trp228=)
2	g.25161201C>G	CA346066274	POMC	c.684G>C (p.Trp228Cys)
2	g.25161201C>T	CA346066275	POMC	c.684G>A (p.Trp228Ter)	dbSNP gnomAD v3 gnomAD v4
2	g.25161202C>A	CA346066276	POMC	c.683G>T (p.Trp228Leu)	COSMIC
2	g.25161202C=	CA1239227039	POMC	c.683G= (p.Trp228=)
2	g.25161202C>G	CA1555237	POMC	c.683G>C (p.Trp228Ser)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.25161202C>T	CA346066277	POMC	c.683G>A (p.Trp228Ter)
2	g.25161203A=	CA1239227042	POMC	c.682T= (p.Trp228=)
2	g.25161203A>C	CA43684359	POMC	c.682T>G (p.Trp228Gly)	dbSNP gnomAD v3 gnomAD v4
2	g.25161203A>G	CA346066279	POMC	c.682T>C (p.Trp228Arg)	gnomAD v4
2	g.25161203A>T	CA346066278	POMC	c.682T>A (p.Trp228Arg)
2	g.25161204G>A	CA425353143	POMC	c.681C>T (p.Arg227=)
2	g.25161204G>C	CA425353134	POMC	c.681C>G (p.Arg227=)
2	g.25161204G>T	CA425353139	POMC	c.681C>A (p.Arg227=)	gnomAD v4
2	g.25161205C>A	CA346066280	POMC	c.680G>T (p.Arg227Leu)	gnomAD v4
2	g.25161205C=	CA1239227047	POMC	c.680G= (p.Arg227=)
2	g.25161205C>G	CA346066281	POMC	c.680G>C (p.Arg227Pro)
2	g.25161205C>T	CA346066282	POMC	c.680G>A (p.Arg227His)	dbSNP gnomAD v2 gnomAD v4 COSMIC
2	g.25161205_25161206delinsCG	CA1239227048	POMC	c.679_680delinsCG (p.Arg227=)
2	g.25161206G>A	CA346066283	POMC	c.679C>T (p.Arg227Cys)	dbSNP gnomAD v3 gnomAD v4
2	g.25161206G>C	CA346066284	POMC	c.679C>G (p.Arg227Gly)
2	g.25161206G=	CA1239227051	POMC	c.679C= (p.Arg227=)
2	g.25161206G>T	CA346066285	POMC	c.679C>A (p.Arg227Ser)
2	g.25161207del	CA531760829	POMC	c.679del (p.Arg227AlafsTer15)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.25161207G>A	CA425353151	POMC	c.678C>T (p.Phe226=)	gnomAD v4
2	g.25161207G>C	CA346066286	POMC	c.678C>G (p.Phe226Leu)
2	g.25161207G=	CA1239227054	POMC	c.678C= (p.Phe226=)
2	g.25161207G>T	CA346066287	POMC	c.678C>A (p.Phe226Leu)	dbSNP gnomAD v2 gnomAD v4
2	g.25161208A>C	CA346066288	POMC	c.677T>G (p.Phe226Cys)
2	g.25161208A>G	CA346066289	POMC	c.677T>C (p.Phe226Ser)
2	g.25161208A>T	CA346066290	POMC	c.677T>A (p.Phe226Tyr)
2	g.25161209A>C	CA346066292	POMC	c.676T>G (p.Phe226Val)
2	g.25161209A>G	CA346066293	POMC	c.676T>C (p.Phe226Leu)	gnomAD v4
2	g.25161209A>T	CA346066291	POMC	c.676T>A (p.Phe226Ile)	gnomAD v4
2	g.25161210G>A	CA425353158	POMC	c.675C>T (p.His225=)	dbSNP gnomAD v4
2	g.25161210G>C	CA1555238	POMC	c.675C>G (p.His225Gln)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.25161210G=	CA1239227056	POMC	c.675C= (p.His225=)
2	g.25161210G>T	CA346066294	POMC	c.675C>A (p.His225Gln)
2	g.25161211T>A	CA346066295	POMC	c.674A>T (p.His225Leu)
2	g.25161211T>C	CA346066296	POMC	c.674A>G (p.His225Arg)
2	g.25161211T>G	CA1555239	POMC	c.674A>C (p.His225Pro)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.25161211T=	CA1239227062	POMC	c.674A= (p.His225=)
2	g.25161212G>A	CA346066297	POMC	c.673C>T (p.His225Tyr)	dbSNP gnomAD v2
2	g.25161212G>C	CA346066298	POMC	c.673C>G (p.His225Asp)
2	g.25161212G=	CA1239227065	POMC	c.673C= (p.His225=)
2	g.25161212G>T	CA346066299	POMC	c.673C>A (p.His225Asn)
2	g.25161213C>A	CA346066301	POMC	c.672G>T (p.Glu224Asp)
2	g.25161213C>G	CA346066300	POMC	c.672G>C (p.Glu224Asp)
2	g.25161213C>T	CA425353174	POMC	c.672G>A (p.Glu224=)
2	g.25161214T>A	CA346066302	POMC	c.671A>T (p.Glu224Val)
2	g.25161214T>C	CA346066303	POMC	c.671A>G (p.Glu224Gly)	gnomAD v4
2	g.25161214T>G	CA346066304	POMC	c.671A>C (p.Glu224Ala)
2	g.25161215C>A	CA346066305	POMC	c.670G>T (p.Glu224Ter)
2	g.25161215C>G	CA346066306	POMC	c.670G>C (p.Glu224Gln)
2	g.25161215C>T	CA346066307	POMC	c.670G>A (p.Glu224Lys)	COSMIC
2	g.25161216C>A	CA346066308	POMC	c.669G>T (p.Met223Ile)
2	g.25161216C=	CA1239227068	POMC	c.669G= (p.Met223=)
2	g.25161216C>G	CA346066310	POMC	c.669G>C (p.Met223Ile)
2	g.25161216C>T	CA346066309	POMC	c.669G>A (p.Met223Ile)	dbSNP gnomAD v2
2	g.25161217A=	CA1239227074	POMC	c.668T= (p.Met223=)
2	g.25161217A>C	CA346066311	POMC	c.668T>G (p.Met223Arg)
2	g.25161217A>G	CA1555240	POMC	c.668T>C (p.Met223Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.25161217A>T	CA346066312	POMC	c.668T>A (p.Met223Lys)
2	g.25161218T>A	CA346066313	POMC	c.667A>T (p.Met223Leu)
2	g.25161218T>C	CA1555241	POMC	c.667A>G (p.Met223Val)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.25161218T>G	CA346066314	POMC	c.667A>C (p.Met223Leu)
2	g.25161218T=	CA1239227079	POMC	c.667A= (p.Met223=)
2	g.25161219C>A	CA346066315	POMC	c.666G>T (p.Arg222Ser)
2	g.25161219C>G	CA346066316	POMC	c.666G>C (p.Arg222Ser)	gnomAD v3 gnomAD v4
2	g.25161219C>T	CA425353335	POMC	c.666G>A (p.Arg222=)
2	g.25161220C>A	CA346066317	POMC	c.665G>T (p.Arg222Met)
2	g.25161220C=	CA1239227081	POMC	c.665G= (p.Arg222=)
2	g.25161220C>G	CA346066318	POMC	c.665G>C (p.Arg222Thr)	dbSNP gnomAD v3 gnomAD v4
2	g.25161220C>T	CA346066319	POMC	c.665G>A (p.Arg222Lys)	COSMIC
2	g.25161221T>A	CA346066321	POMC	c.664A>T (p.Arg222Trp)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.25161221T>C	CA346066320	POMC	c.664A>G (p.Arg222Gly)	gnomAD v4
2	g.25161221T>G	CA425353339	POMC	c.664A>C (p.Arg222=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.25161221T=	CA1239227085	POMC	c.664A= (p.Arg222=)
2	g.25161222G>A	CA43684376	POMC	c.663C>T (p.Tyr221=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.25161222G>C	CA346066322	POMC	c.663C>G (p.Tyr221Ter)	gnomAD v4
2	g.25161222G=	CA1239227087	POMC	c.663C= (p.Tyr221=)
2	g.25161222G>T	CA346066323	POMC	c.663C>A (p.Tyr221Ter)
2	g.25161223T>A	CA346066324	POMC	c.662A>T (p.Tyr221Phe)
2	g.25161223T>C	CA1555242	POMC	c.662A>G (p.Tyr221Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.25161223T>G	CA346066325	POMC	c.662A>C (p.Tyr221Ser)
2	g.25161223T=	CA1239227094	POMC	c.662A= (p.Tyr221=)

Number of alleles fetched