Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
22	g.18078374_18078393delinsTGCAGCCCCCCTCAGGGGGCTCGGGG	CA2740094766	PEX26	c.-3_17delinsTGCAGCCCCCCTCAGGGGGCTCGGGG	ClinVar
22	g.18078387A=	CA2395402716	PEX26	c.11A= (p.Asp4=)
22	g.18078387A>C	CA410264003	PEX26	c.11A>C (p.Asp4Ala)
22	g.18078387A>G	CA410264005	PEX26	c.11A>G (p.Asp4Gly)	dbSNP gnomAD v2 gnomAD v4
22	g.18078387A>T	CA410264008	PEX26	c.11A>T (p.Asp4Val)
22	g.18078388T>A	CA410264014	PEX26	c.12T>A (p.Asp4Glu)
22	g.18078388T>C	CA513184630	PEX26	c.12T>C (p.Asp4=)	ClinVar dbSNP
22	g.18078388T>G	CA410264018	PEX26	c.12T>G (p.Asp4Glu)
22	g.18078389T>A	CA410264022	PEX26	c.13T>A (p.Ser5Thr)
22	g.18078389T>C	CA410264024	PEX26	c.13T>C (p.Ser5Pro)	dbSNP
22	g.18078389T>G	CA410264027	PEX26	c.13T>G (p.Ser5Ala)
22	g.18078389T=	CA2395402717	PEX26	c.13T= (p.Ser5=)
22	g.18078390C>A	CA410264031	PEX26	c.14C>A (p.Ser5Tyr)	gnomAD v4
22	g.18078390C=	CA2395402718	PEX26	c.14C= (p.Ser5=)
22	g.18078390C>G	CA410264035	PEX26	c.14C>G (p.Ser5Cys)
22	g.18078390C>T	CA410264038	PEX26	c.14C>T (p.Ser5Phe)	dbSNP gnomAD v2 gnomAD v4
22	g.18078391T>A	CA513184632	PEX26	c.15T>A (p.Ser5=)
22	g.18078391T>C	CA513184633	PEX26	c.15T>C (p.Ser5=)	ClinVar dbSNP gnomAD v4
22	g.18078391T>G	CA513184634	PEX26	c.15T>G (p.Ser5=)
22	g.18078392T>A	CA410264042	PEX26	c.16T>A (p.Ser6Thr)
22	g.18078392T>C	CA410264044	PEX26	c.16T>C (p.Ser6Pro)
22	g.18078392T>G	CA410264048	PEX26	c.16T>G (p.Ser6Ala)
22	g.18078393C>A	CA321284208	PEX26	c.17C>A (p.Ser6Ter)	dbSNP gnomAD v4
22	g.18078393C=	CA2395402719	PEX26	c.17C= (p.Ser6=)
22	g.18078393C>G	CA410264053	PEX26	c.17C>G (p.Ser6Trp)	gnomAD v4
22	g.18078393C>T	CA410264055	PEX26	c.17C>T (p.Ser6Leu)	ClinVar dbSNP gnomAD v2 gnomAD v4
22	g.18078394G>A	CA10093191	PEX26	c.18G>A (p.Ser6=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
22	g.18078394G>C	CA513184636	PEX26	c.18G>C (p.Ser6=)	gnomAD v4
22	g.18078394G=	CA2395402720	PEX26	c.18G= (p.Ser6=)
22	g.18078394G>T	CA513184637	PEX26	c.18G>T (p.Ser6=)	dbSNP gnomAD v4
22	g.18078395A>C	CA410264067	PEX26	c.19A>C (p.Thr7Pro)
22	g.18078395A>G	CA410264064	PEX26	c.19A>G (p.Thr7Ala)
22	g.18078395A>T	CA410264070	PEX26	c.19A>T (p.Thr7Ser)
22	g.18078396C>A	CA410264074	PEX26	c.20C>A (p.Thr7Asn)	gnomAD v4
22	g.18078396C=	CA2395402721	PEX26	c.20C= (p.Thr7=)
22	g.18078396C>G	CA410264077	PEX26	c.20C>G (p.Thr7Ser)
22	g.18078396C>T	CA410264080	PEX26	c.20C>T (p.Thr7Ile)	ClinVar dbSNP gnomAD v2 gnomAD v4
22	g.18078397C>A	CA513184639	PEX26	c.21C>A (p.Thr7=)	gnomAD v4
22	g.18078397C>G	CA513184640	PEX26	c.21C>G (p.Thr7=)
22	g.18078397C>T	CA513184641	PEX26	c.21C>T (p.Thr7=)
22	g.18078398T>A	CA321284215	PEX26	c.22T>A (p.Ser8Thr)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.18078398T>C	CA410264086	PEX26	c.22T>C (p.Ser8Pro)	gnomAD v4
22	g.18078398T>G	CA410264089	PEX26	c.22T>G (p.Ser8Ala)
22	g.18078398T=	CA2395402722	PEX26	c.22T= (p.Ser8=)
22	g.18078399C>A	CA410264093	PEX26	c.23C>A (p.Ser8Tyr)	gnomAD v4
22	g.18078399C=	CA2395402723	PEX26	c.23C= (p.Ser8=)
22	g.18078399C>G	CA410264097	PEX26	c.23C>G (p.Ser8Cys)	gnomAD v4
22	g.18078399C>T	CA10093192	PEX26	c.23C>T (p.Ser8Phe)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.18078403_18078434dup	CA638502283	PEX26	c.27_58dup (p.Arg20GlnfsTer?)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.18078400T>A	CA513184645	PEX26	c.24T>A (p.Ser8=)

Number of alleles fetched