Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.43755617T>A	CA399702043	SOST	c.367A>T (p.Lys123Ter)
17	g.43755617T>C	CA399702045	SOST	c.367A>G (p.Lys123Glu)
17	g.43755617T>G	CA399702046	SOST	c.367A>C (p.Lys123Gln)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.43755617T=	CA2261069235	SOST	c.367A= (p.Lys123=)
17	g.43755618G>A	CA500234784	SOST	c.366C>T (p.Gly122=)	gnomAD v4
17	g.43755618G>C	CA500234785	SOST	c.366C>G (p.Gly122=)	gnomAD v4
17	g.43755618G>T	CA500234786	SOST	c.366C>A (p.Gly122=)	gnomAD v4
17	g.43755619C>A	CA399702048	SOST	c.365G>T (p.Gly122Val)	gnomAD v4
17	g.43755619C>G	CA399702049	SOST	c.365G>C (p.Gly122Ala)
17	g.43755619C>T	CA399702051	SOST	c.365G>A (p.Gly122Asp)	gnomAD v4
17	g.43755620C>A	CA290857084	SOST	c.364G>T (p.Gly122Cys)	dbSNP gnomAD v4
17	g.43755620C=	CA2261069236	SOST	c.364G= (p.Gly122=)
17	g.43755620C>G	CA399702053	SOST	c.364G>C (p.Gly122Arg)	gnomAD v4
17	g.43755620C>T	CA399702055	SOST	c.364G>A (p.Gly122Ser)	gnomAD v4
17	g.43755621G>A	CA500234788	SOST	c.363C>T (p.Arg121=)	gnomAD v4
17	g.43755621G>C	CA500234789	SOST	c.363C>G (p.Arg121=)
17	g.43755621G>T	CA500234790	SOST	c.363C>A (p.Arg121=)	gnomAD v4
17	g.43755622C>A	CA399702056	SOST	c.362G>T (p.Arg121Leu)	gnomAD v4
17	g.43755622C=	CA2261069237	SOST	c.362G= (p.Arg121=)
17	g.43755622C>G	CA399702058	SOST	c.362G>C (p.Arg121Pro)	gnomAD v4
17	g.43755622C>T	CA399702060	SOST	c.362G>A (p.Arg121His)	dbSNP gnomAD v4
17	g.43755623G>A	CA399702062	SOST	c.361C>T (p.Arg121Cys)	gnomAD v4
17	g.43755623G>C	CA399702065	SOST	c.361C>G (p.Arg121Gly)	gnomAD v4
17	g.43755623G=	CA2261069238	SOST	c.361C= (p.Arg121=)
17	g.43755623G>T	CA399702063	SOST	c.361C>A (p.Arg121Ser)	dbSNP gnomAD v4
17	g.43755624G>A	CA500234793	SOST	c.360C>T (p.Gly120=)	gnomAD v4
17	g.43755624G>C	CA500234791	SOST	c.360C>G (p.Gly120=)
17	g.43755624G>T	CA500234792	SOST	c.360C>A (p.Gly120=)	gnomAD v4
17	g.43755625C>A	CA399702067	SOST	c.359G>T (p.Gly120Val)	gnomAD v4
17	g.43755625C=	CA2261069239	SOST	c.359G= (p.Gly120=)
17	g.43755625C>G	CA399702070	SOST	c.359G>C (p.Gly120Ala)
17	g.43755625C>T	CA399702069	SOST	c.359G>A (p.Gly120Asp)	gnomAD v4
17	g.43755626C>A	CA399702072	SOST	c.358G>T (p.Gly120Cys)	gnomAD v4
17	g.43755626C=	CA2261069240	SOST	c.358G= (p.Gly120=)
17	g.43755626C>G	CA399702074	SOST	c.358G>C (p.Gly120Arg)
17	g.43755626C>T	CA8592803	SOST	c.358G>A (p.Gly120Ser)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.43755628_43755633dup	CA290857086	SOST	c.353_358dup (p.Ile119_Gly120insAlaIle)	dbSNP gnomAD v3 gnomAD v4
17	g.43755627G>A	CA500234797	SOST	c.357C>T (p.Ile119=)	dbSNP gnomAD v2 gnomAD v4
17	g.43755627G>C	CA399702076	SOST	c.357C>G (p.Ile119Met)	dbSNP gnomAD v3 gnomAD v4
17	g.43755627G=	CA2261069241	SOST	c.357C= (p.Ile119=)
17	g.43755627G>T	CA500234798	SOST	c.357C>A (p.Ile119=)	gnomAD v4
17	g.43755628A=	CA2261069242	SOST	c.356T= (p.Ile119=)
17	g.43755628A>C	CA8592804	SOST	c.356T>G (p.Ile119Ser)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.43755628A>G	CA399702078	SOST	c.356T>C (p.Ile119Thr)
17	g.43755628A>T	CA399702080	SOST	c.356T>A (p.Ile119Asn)
17	g.43755629T>A	CA399702082	SOST	c.355A>T (p.Ile119Phe)
17	g.43755629T>C	CA399702084	SOST	c.355A>G (p.Ile119Val)
17	g.43755629T>G	CA399702086	SOST	c.355A>C (p.Ile119Leu)
17	g.43755630G>A	CA500234800	SOST	c.354C>T (p.Ala118=)
17	g.43755630G>C	CA500234801	SOST	c.354C>G (p.Ala118=)

Number of alleles fetched