Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
16	g.88727044G>A	CA497366168	PIEZO1	c.3450C>T (p.His1150=)	gnomAD v4
16	g.88727044G>C	CA397105020	PIEZO1	c.3450C>G (p.His1150Gln)
16	g.88727044G>T	CA397105021	PIEZO1	c.3450C>A (p.His1150Gln)
16	g.88727045T>A	CA397105025	PIEZO1	c.3449A>T (p.His1150Leu)
16	g.88727045T>C	CA397105026	PIEZO1	c.3449A>G (p.His1150Arg)	dbSNP gnomAD v3 gnomAD v4
16	g.88727045T>G	CA397105027	PIEZO1	c.3449A>C (p.His1150Pro)
16	g.88727045T=	CA2241253966	PIEZO1	c.3449A= (p.His1150=)
16	g.88727046G>A	CA397105030	PIEZO1	c.3448C>T (p.His1150Tyr)	dbSNP gnomAD v3 gnomAD v4
16	g.88727046G>C	CA397105033	PIEZO1	c.3448C>G (p.His1150Asp)
16	g.88727046G=	CA2241253967	PIEZO1	c.3448C= (p.His1150=)
16	g.88727046G>T	CA397105035	PIEZO1	c.3448C>A (p.His1150Asn)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.88727047G>A	CA497366173	PIEZO1	c.3447C>T (p.Ile1149=)	dbSNP gnomAD v3 gnomAD v4
16	g.88727047G>C	CA397105036	PIEZO1	c.3447C>G (p.Ile1149Met)	dbSNP gnomAD v4
16	g.88727047G=	CA2241253968	PIEZO1	c.3447C= (p.Ile1149=)
16	g.88727047G>T	CA497366176	PIEZO1	c.3447C>A (p.Ile1149=)
16	g.88727048A>C	CA397105040	PIEZO1	c.3446T>G (p.Ile1149Ser)
16	g.88727048A>G	CA397105037	PIEZO1	c.3446T>C (p.Ile1149Thr)
16	g.88727048A>T	CA397105039	PIEZO1	c.3446T>A (p.Ile1149Asn)
16	g.88727049T>A	CA397105045	PIEZO1	c.3445A>T (p.Ile1149Phe)	gnomAD v4
16	g.88727049T>C	CA397105047	PIEZO1	c.3445A>G (p.Ile1149Val)	dbSNP gnomAD v3 gnomAD v4
16	g.88727049T>G	CA397105048	PIEZO1	c.3445A>C (p.Ile1149Leu)
16	g.88727049T=	CA2241253969	PIEZO1	c.3445A= (p.Ile1149=)
16	g.88727050A>C	CA397105049	PIEZO1	c.3444T>G (p.Phe1148Leu)
16	g.88727050A>G	CA497366184	PIEZO1	c.3444T>C (p.Phe1148=)	dbSNP gnomAD v3 gnomAD v4
16	g.88727050A>T	CA397105050	PIEZO1	c.3444T>A (p.Phe1148Leu)
16	g.88727051A>C	CA397105053	PIEZO1	c.3443T>G (p.Phe1148Cys)
16	g.88727051A>G	CA397105054	PIEZO1	c.3443T>C (p.Phe1148Ser)
16	g.88727051A>T	CA397105056	PIEZO1	c.3443T>A (p.Phe1148Tyr)
16	g.88727052A>C	CA397105058	PIEZO1	c.3442T>G (p.Phe1148Val)
16	g.88727052A>G	CA397105060	PIEZO1	c.3442T>C (p.Phe1148Leu)
16	g.88727052A>T	CA397105063	PIEZO1	c.3442T>A (p.Phe1148Ile)
16	g.88727053G>A	CA8232487	PIEZO1	c.3441C>T (p.Asn1147=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.88727053G>C	CA397105067	PIEZO1	c.3441C>G (p.Asn1147Lys)	dbSNP gnomAD v2 gnomAD v4
16	g.88727053G=	CA2241253970	PIEZO1	c.3441C= (p.Asn1147=)
16	g.88727053G>T	CA397105065	PIEZO1	c.3441C>A (p.Asn1147Lys)
16	g.88727054T>A	CA397105069	PIEZO1	c.3440A>T (p.Asn1147Ile)
16	g.88727054T>C	CA397105071	PIEZO1	c.3440A>G (p.Asn1147Ser)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.88727054T>G	CA397105073	PIEZO1	c.3440A>C (p.Asn1147Thr)	dbSNP gnomAD v4
16	g.88727054T=	CA2241253971	PIEZO1	c.3440A= (p.Asn1147=)
16	g.88727055T>A	CA397105075	PIEZO1	c.3439A>T (p.Asn1147Tyr) n.425A>T
16	g.88727055T>C	CA397105076	PIEZO1	c.3439A>G (p.Asn1147Asp) n.425A>G
16	g.88727055T>G	CA397105077	PIEZO1	c.3439A>C (p.Asn1147His) n.425A>C
16	g.88727056G>A	CA497366197	PIEZO1	c.3438C>T (p.Pro1146=) n.424C>T	dbSNP gnomAD v2 gnomAD v4
16	g.88727056G>C	CA497366198	PIEZO1	c.3438C>G (p.Pro1146=) n.424C>G	gnomAD v4
16	g.88727056G=	CA2241253972	PIEZO1	c.3438C= (p.Pro1146=) n.424C=
16	g.88727056G>T	CA497366199	PIEZO1	c.3438C>A (p.Pro1146=) n.424C>A
16	g.88727057G>A	CA8232488	PIEZO1	c.3437C>T (p.Pro1146Leu) n.423C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.88727057G>C	CA397105080	PIEZO1	c.3437C>G (p.Pro1146Arg) n.423C>G
16	g.88727057G=	CA2241253973	PIEZO1	c.3437C= (p.Pro1146=) n.423C=
16	g.88727057G>T	CA397105082	PIEZO1	c.3437C>A (p.Pro1146His) n.423C>A	gnomAD v4

Number of alleles fetched