Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.206767375C>A	CA350073084	FASTKD2	c.682C>A (p.Gln228Lys) n.740C>A
2	g.206767375C=	CA1323324748	FASTKD2	c.682C= (p.Gln228=) n.740C=
2	g.206767375C>G	CA350073087	FASTKD2	c.682C>G (p.Gln228Glu) n.740C>G
2	g.206767375C>T	CA323091	FASTKD2	c.682C>T (p.Gln228Ter) n.740C>T	ClinVar dbSNP
2	g.206767376A=	CA1323324770	FASTKD2	c.683A= (p.Gln228=) n.741A=
2	g.206767376A>C	CA63710266	FASTKD2	c.683A>C (p.Gln228Pro) n.741A>C	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.206767376A>G	CA350073090	FASTKD2	c.683A>G (p.Gln228Arg) n.741A>G	gnomAD v4
2	g.206767376A>T	CA350073093	FASTKD2	c.683A>T (p.Gln228Leu) n.741A>T
2	g.206767377G>A	CA2074924	FASTKD2	c.684G>A (p.Gln228=) n.742G>A	dbSNP ExAC gnomAD v2
2	g.206767377G>C	CA2074923	FASTKD2	c.684G>C (p.Gln228His) n.742G>C	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.206767377G=	CA1323324793	FASTKD2	c.684G= (p.Gln228=) n.742G=
2	g.206767377G>T	CA350073098	FASTKD2	c.684G>T (p.Gln228His) n.742G>T
2	g.206767378T>A	CA350073101	FASTKD2	c.685T>A (p.Tyr229Asn) n.743T>A
2	g.206767378T>C	CA350073102	FASTKD2	c.685T>C (p.Tyr229His) n.743T>C	gnomAD v4
2	g.206767378T>G	CA350073103	FASTKD2	c.685T>G (p.Tyr229Asp) n.743T>G
2	g.206767379A=	CA1323324813	FASTKD2	c.686A= (p.Tyr229=) n.744A=
2	g.206767379A>C	CA350073104	FASTKD2	c.686A>C (p.Tyr229Ser) n.744A>C	gnomAD v4
2	g.206767379A>G	CA2074925	FASTKD2	c.686A>G (p.Tyr229Cys) n.744A>G	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.206767379A>T	CA350073108	FASTKD2	c.686A>T (p.Tyr229Phe) n.744A>T	dbSNP
2	g.206767380T>A	CA350073111	FASTKD2	c.687T>A (p.Tyr229Ter) n.745T>A
2	g.206767380T>C	CA431114896	FASTKD2	c.687T>C (p.Tyr229=) n.745T>C
2	g.206767380T>G	CA350073113	FASTKD2	c.687T>G (p.Tyr229Ter) n.745T>G
2	g.206767381A>C	CA350073125	FASTKD2	c.688A>C (p.Lys230Gln) n.746A>C
2	g.206767381A>G	CA350073124	FASTKD2	c.688A>G (p.Lys230Glu) n.746A>G
2	g.206767381A>T	CA350073123	FASTKD2	c.688A>T (p.Lys230Ter) n.746A>T
2	g.206767381_206767382dup	CA2662829158	FASTKD2	c.688_689dup (p.Tyr231SerfsTer10) n.746_747dup	gnomAD v4
2	g.206767382A>C	CA350073126	FASTKD2	c.689A>C (p.Lys230Thr) n.747A>C
2	g.206767382A>G	CA350073128	FASTKD2	c.689A>G (p.Lys230Arg) n.747A>G
2	g.206767382A>T	CA350073129	FASTKD2	c.689A>T (p.Lys230Met) n.747A>T
2	g.206767383G>A	CA431114906	FASTKD2	c.690G>A (p.Lys230=) n.748G>A	dbSNP gnomAD v2
2	g.206767383G>C	CA350073134	FASTKD2	c.690G>C (p.Lys230Asn) n.748G>C
2	g.206767383G=	CA1323324821	FASTKD2	c.690G= (p.Lys230=) n.748G=
2	g.206767383G>T	CA350073136	FASTKD2	c.690G>T (p.Lys230Asn) n.748G>T
2	g.206767384T>A	CA350073139	FASTKD2	c.691T>A (p.Tyr231Asn) n.749T>A
2	g.206767384T>C	CA350073141	FASTKD2	c.691T>C (p.Tyr231His) n.749T>C	dbSNP gnomAD v3 gnomAD v4
2	g.206767384T>G	CA350073144	FASTKD2	c.691T>G (p.Tyr231Asp) n.749T>G
2	g.206767384T=	CA1323324835	FASTKD2	c.691T= (p.Tyr231=) n.749T=
2	g.206767385A>C	CA350073146	FASTKD2	c.692A>C (p.Tyr231Ser) n.750A>C
2	g.206767385A>G	CA350073148	FASTKD2	c.692A>G (p.Tyr231Cys) n.750A>G
2	g.206767385A>T	CA350073151	FASTKD2	c.692A>T (p.Tyr231Phe) n.750A>T
2	g.206767386C>A	CA350073155	FASTKD2	c.693C>A (p.Tyr231Ter) n.751C>A
2	g.206767386C>G	CA350073157	FASTKD2	c.693C>G (p.Tyr231Ter) n.751C>G
2	g.206767386C>T	CA431114915	FASTKD2	c.693C>T (p.Tyr231=) n.751C>T
2	g.206767387C>A	CA350073159	FASTKD2	c.694C>A (p.Leu232Ile) n.752C>A
2	g.206767387C=	CA1323324841	FASTKD2	c.694C= (p.Leu232=) n.752C=
2	g.206767387C>G	CA350073161	FASTKD2	c.694C>G (p.Leu232Val) n.752C>G	gnomAD v4
2	g.206767387C>T	CA431114920	FASTKD2	c.694C>T (p.Leu232=) n.752C>T	dbSNP gnomAD v4
2	g.206767388T>A	CA350073165	FASTKD2	c.695T>A (p.Leu232Gln) n.753T>A
2	g.206767388T>C	CA350073168	FASTKD2	c.695T>C (p.Leu232Pro) n.753T>C
2	g.206767388T>G	CA350073171	FASTKD2	c.695T>G (p.Leu232Arg) n.753T>G

Number of alleles fetched