Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
16	g.74773969_74776493del	CA2580613902			ClinVar
16	g.74774553C>A	CA396768200	FA2H	c.203G>T (p.Arg68Met)	gnomAD v4
16	g.74774553C>G	CA396768202	FA2H	c.203G>C (p.Arg68Thr)
16	g.74774553C>T	CA396768201	FA2H	c.203G>A (p.Arg68Lys)	gnomAD v4
16	g.74774553_74774556delinsCTGT	CA2232982548	FA2H	c.200_203delinsACAG (p.His67=)
16	g.74774554T>A	CA396768203	FA2H	c.202A>T (p.Arg68Trp)	gnomAD v4
16	g.74774554T>C	CA8170618	FA2H	c.202A>G (p.Arg68Gly)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16	g.74774554T>G	CA496690743	FA2H	c.202A>C (p.Arg68=)	gnomAD v4
16	g.74774554T=	CA2232982549	FA2H	c.202A= (p.Arg68=)
16	g.74774554_74774556del	CA623582352	FA2H	c.200_202del (p.His67del)	dbSNP gnomAD v2 gnomAD v4
16	g.74774555G>A	CA496690744	FA2H	c.201C>T (p.His67=)	dbSNP gnomAD v4
16	g.74774555G>C	CA396768204	FA2H	c.201C>G (p.His67Gln)	ClinVar gnomAD v4
16	g.74774555G=	CA2232982551	FA2H	c.201C= (p.His67=)
16	g.74774555G>T	CA396768205	FA2H	c.201C>A (p.His67Gln)	gnomAD v4
16	g.74774556T>A	CA396768206	FA2H	c.200A>T (p.His67Leu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.74774556T>C	CA396768207	FA2H	c.200A>G (p.His67Arg)	gnomAD v4
16	g.74774556T>G	CA396768208	FA2H	c.200A>C (p.His67Pro)
16	g.74774556T=	CA2232982552	FA2H	c.200A= (p.His67=)
16	g.74774556_74774559delinsTGCG	CA2232982553	FA2H	c.197_200delinsCGCA (p.Pro66=)
16	g.74774557G>A	CA396768209	FA2H	c.199C>T (p.His67Tyr)
16	g.74774557G>C	CA396768210	FA2H	c.199C>G (p.His67Asp)
16	g.74774557G>T	CA396768211	FA2H	c.199C>A (p.His67Asn)	gnomAD v4
16	g.74774562_74774564del	CA979036928	FA2H	c.197_199del (p.Pro66del)	dbSNP gnomAD v3 gnomAD v4
16	g.74774558del	CA2634290008	FA2H	c.198del (p.His67ThrfsTer?)	gnomAD v4
16	g.74774558C>A	CA496690748	FA2H	c.198G>T (p.Pro66=)	gnomAD v4
16	g.74774558C=	CA2232982561	FA2H	c.198G= (p.Pro66=)
16	g.74774558C>G	CA8170619	FA2H	c.198G>C (p.Pro66=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.74774558C>T	CA496690753	FA2H	c.198G>A (p.Pro66=)	ClinVar dbSNP gnomAD v2 gnomAD v4
16	g.74774559G>A	CA396768212	FA2H	c.197C>T (p.Pro66Leu)	dbSNP gnomAD v3 gnomAD v4
16	g.74774559G>C	CA396768213	FA2H	c.197C>G (p.Pro66Arg)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.74774559G=	CA2232982563	FA2H	c.197C= (p.Pro66=)
16	g.74774559G>T	CA396768214	FA2H	c.197C>A (p.Pro66Gln)	gnomAD v4
16	g.74774560G>A	CA396768215	FA2H	c.196C>T (p.Pro66Ser)	dbSNP gnomAD v2 gnomAD v4
16	g.74774560G>C	CA396768216	FA2H	c.196C>G (p.Pro66Ala)
16	g.74774560G=	CA2232982564	FA2H	c.196C= (p.Pro66=)
16	g.74774560G>T	CA396768217	FA2H	c.196C>A (p.Pro66Thr)	gnomAD v4
16	g.74774561del	CA2634290009	FA2H	c.195del (p.Pro66ArgfsTer?)	gnomAD v4
16	g.74774561C>A	CA496690755	FA2H	c.195G>T (p.Pro65=)	gnomAD v4
16	g.74774561C=	CA2232982565	FA2H	c.195G= (p.Pro65=)
16	g.74774561C>G	CA496690756	FA2H	c.195G>C (p.Pro65=)
16	g.74774561C>T	CA8170620	FA2H	c.195G>A (p.Pro65=)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
16	g.74774562G>A	CA396768218	FA2H	c.194C>T (p.Pro65Leu)	gnomAD v4
16	g.74774562G>C	CA396768219	FA2H	c.194C>G (p.Pro65Arg)	dbSNP gnomAD v4
16	g.74774562G=	CA2232982566	FA2H	c.194C= (p.Pro65=)
16	g.74774562G>T	CA396768220	FA2H	c.194C>A (p.Pro65Gln)	gnomAD v4
16	g.74774563G>A	CA396768221	FA2H	c.193C>T (p.Pro65Ser)	gnomAD v4
16	g.74774563G>C	CA396768222	FA2H	c.193C>G (p.Pro65Ala)
16	g.74774563G>T	CA396768223	FA2H	c.193C>A (p.Pro65Thr)	gnomAD v4
16	g.74774564C>A	CA496690762	FA2H	c.192G>T (p.Gly64=)	gnomAD v4
16	g.74774564C>G	CA496690764	FA2H	c.192G>C (p.Gly64=)

Number of alleles fetched