Allele Registry

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

Number of alleles fetched