Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.25161179_25161200dup	CA2658163191	POMC	c.686_707dup (p.Tyr237GlnfsTer?)	gnomAD v4
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=)

Number of alleles fetched