Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
16	g.88738319_88738391del	CA2634883048	HSALR1,PIEZO1	c.686_758del (p.Ala229GlyfsTer?) n.768_840del	gnomAD v4
16	g.88738367G>A	CA286436639	HSALR1,PIEZO1	c.708C>T (p.Cys236=) n.816G>A	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.88738367G>C	CA397123243	HSALR1,PIEZO1	c.708C>G (p.Cys236Trp) n.816G>C	dbSNP
16	g.88738367G=	CA2241255474	HSALR1,PIEZO1	c.708C= (p.Cys236=) n.816G=
16	g.88738367G>T	CA16620295	HSALR1,PIEZO1	c.708C>A (p.Cys236Ter) n.816G>T	ClinVar dbSNP
16	g.88738368C>A	CA397123244	HSALR1,PIEZO1	c.707G>T (p.Cys236Phe) n.817C>A	gnomAD v4
16	g.88738368C=	CA2241255476	HSALR1,PIEZO1	c.707G= (p.Cys236=) n.817C=
16	g.88738368C>G	CA397123246	HSALR1,PIEZO1	c.707G>C (p.Cys236Ser) n.817C>G	ClinVar
16	g.88738368C>T	CA397123245	HSALR1,PIEZO1	c.707G>A (p.Cys236Tyr) n.817C>T	dbSNP gnomAD v4
16	g.88738369A>C	CA397123247	HSALR1,PIEZO1	c.706T>G (p.Cys236Gly) n.818A>C
16	g.88738369A>G	CA397123248	HSALR1,PIEZO1	c.706T>C (p.Cys236Arg) n.818A>G
16	g.88738369A>T	CA397123249	HSALR1,PIEZO1	c.706T>A (p.Cys236Ser) n.818A>T
16	g.88738370G>A	CA8233207	HSALR1,PIEZO1	c.705C>T (p.Ala235=) n.819G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.88738370G>C	CA497368336	HSALR1,PIEZO1	c.705C>G (p.Ala235=) n.819G>C	dbSNP
16	g.88738370G=	CA2241255481	HSALR1,PIEZO1	c.705C= (p.Ala235=) n.819G=
16	g.88738370G>T	CA497368334	HSALR1,PIEZO1	c.705C>A (p.Ala235=) n.819G>T	gnomAD v4
16	g.88738371G>A	CA397123250	HSALR1,PIEZO1	c.704C>T (p.Ala235Val) n.820G>A
16	g.88738371G>C	CA397123251	HSALR1,PIEZO1	c.704C>G (p.Ala235Gly) n.820G>C
16	g.88738371G>T	CA397123252	HSALR1,PIEZO1	c.704C>A (p.Ala235Asp) n.820G>T
16	g.88738372C>A	CA397123253	HSALR1,PIEZO1	c.703G>T (p.Ala235Ser) n.821C>A	gnomAD v4
16	g.88738372C=	CA2241255483	HSALR1,PIEZO1	c.703G= (p.Ala235=) n.821C=
16	g.88738372C>G	CA8233208	HSALR1,PIEZO1	c.703G>C (p.Ala235Pro) n.821C>G	dbSNP ExAC gnomAD v2
16	g.88738372C>T	CA397123254	HSALR1,PIEZO1	c.703G>A (p.Ala235Thr) n.821C>T	gnomAD v4
16	g.88738373C>A	CA397123256	HSALR1,PIEZO1	c.702G>T (p.Trp234Cys) n.822C>A
16	g.88738373C=	CA2241255485	HSALR1,PIEZO1	c.702G= (p.Trp234=) n.822C=
16	g.88738373C>G	CA397123255	HSALR1,PIEZO1	c.702G>C (p.Trp234Cys) n.822C>G
16	g.88738373C>T	CA8233209	HSALR1,PIEZO1	c.702G>A (p.Trp234Ter) n.822C>T	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.88738374C>A	CA397123257	HSALR1,PIEZO1	c.701G>T (p.Trp234Leu) n.823C>A
16	g.88738374C>G	CA397123258	HSALR1,PIEZO1	c.701G>C (p.Trp234Ser) n.823C>G
16	g.88738374C>T	CA397123259	HSALR1,PIEZO1	c.701G>A (p.Trp234Ter) n.823C>T	gnomAD v4
16	g.88738375A=	CA2241255488	HSALR1,PIEZO1	c.700T= (p.Trp234=) n.824A=
16	g.88738375A>C	CA8233210	HSALR1,PIEZO1	c.700T>G (p.Trp234Gly) n.824A>C	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.88738375A>G	CA397123260	HSALR1,PIEZO1	c.700T>C (p.Trp234Arg) n.824A>G
16	g.88738375A>T	CA397123261	HSALR1,PIEZO1	c.700T>A (p.Trp234Arg) n.824A>T
16	g.88738376C>A	CA397123262	HSALR1,PIEZO1	c.699G>T (p.Trp233Cys) n.825C>A
16	g.88738376C>G	CA397123263	HSALR1,PIEZO1	c.699G>C (p.Trp233Cys) n.825C>G
16	g.88738376C>T	CA397123264	HSALR1,PIEZO1	c.699G>A (p.Trp233Ter) n.825C>T
16	g.88738377C>A	CA397123265	HSALR1,PIEZO1	c.698G>T (p.Trp233Leu) n.826C>A	gnomAD v4
16	g.88738377C=	CA2241255490	HSALR1,PIEZO1	c.698G= (p.Trp233=) n.826C=
16	g.88738377C>G	CA397123266	HSALR1,PIEZO1	c.698G>C (p.Trp233Ser) n.826C>G	dbSNP
16	g.88738377C>T	CA397123267	HSALR1,PIEZO1	c.698G>A (p.Trp233Ter) n.826C>T
16	g.88738378A>C	CA397123269	HSALR1,PIEZO1	c.697T>G (p.Trp233Gly) n.827A>C
16	g.88738378A>G	CA397123270	HSALR1,PIEZO1	c.697T>C (p.Trp233Arg) n.827A>G	gnomAD v4
16	g.88738378A>T	CA397123268	HSALR1,PIEZO1	c.697T>A (p.Trp233Arg) n.827A>T
16	g.88738379G>A	CA497368382	HSALR1,PIEZO1	c.696C>T (p.Thr232=) n.828G>A
16	g.88738379G>C	CA497368384	HSALR1,PIEZO1	c.696C>G (p.Thr232=) n.828G>C	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.88738379G=	CA2241255492	HSALR1,PIEZO1	c.696C= (p.Thr232=) n.828G=
16	g.88738379G>T	CA497368385	HSALR1,PIEZO1	c.696C>A (p.Thr232=) n.828G>T
16	g.88738380G>A	CA8233211	HSALR1,PIEZO1	c.695C>T (p.Thr232Ile) n.829G>A	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.88738380G>C	CA397123271	HSALR1,PIEZO1	c.695C>G (p.Thr232Ser) n.829G>C	dbSNP gnomAD v4

Number of alleles fetched