Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
16	g.88733900A>G	CA2634881226	HSALR1,PIEZO1	c.2329+6T>C (n.2329+6T>C) n.269+2452A>G	gnomAD v4
16	g.88733901C>A	CA2634881227	HSALR1,PIEZO1	c.2329+5G>T (n.2329+5G>T) n.269+2453C>A	gnomAD v4
16	g.88733901C=	CA2241262215	HSALR1,PIEZO1	c.2329+5G= (n.2329+5G=) n.269+2453C=
16	g.88733901C>G	CA2241262216	HSALR1,PIEZO1	c.2329+5G>C (n.2329+5G>C) n.269+2453C>G	dbSNP
16	g.88733902C>A	CA624449497	HSALR1,PIEZO1	c.2329+4G>T (n.2329+4G>T) n.269+2454C>A	dbSNP gnomAD v2 gnomAD v4
16	g.88733902C=	CA2241262217	HSALR1,PIEZO1	c.2329+4G= (n.2329+4G=) n.269+2454C=
16	g.88733903C=	CA2241262218	HSALR1,PIEZO1	c.2329+3G= (n.2329+3G=) n.269+2455C=
16	g.88733903C>G	CA980334385	HSALR1,PIEZO1	c.2329+3G>C (n.2329+3G>C) n.269+2455C>G	dbSNP gnomAD v3 gnomAD v4
16	g.88733903C>T	CA725647164	HSALR1,PIEZO1	c.2329+3G>A (n.2329+3G>A) n.269+2455C>T	dbSNP gnomAD v3 gnomAD v4
16	g.88733904A>C	CA397112551	HSALR1,PIEZO1	c.2329+2T>G (n.2329+2T>G) n.269+2456A>C	gnomAD v4 COSMIC
16	g.88733904A>G	CA397112553	HSALR1,PIEZO1	c.2329+2T>C (n.2329+2T>C) n.269+2456A>G
16	g.88733904A>T	CA397112549	HSALR1,PIEZO1	c.2329+2T>A (n.2329+2T>A) n.269+2456A>T
16	g.88733905C>A	CA397112554	HSALR1,PIEZO1	c.2329+1G>T (n.2329+1G>T) n.269+2457C>A
16	g.88733905C>G	CA397112555	HSALR1,PIEZO1	c.2329+1G>C (n.2329+1G>C) n.269+2457C>G
16	g.88733905C>T	CA397112557	HSALR1,PIEZO1	c.2329+1G>A (n.2329+1G>A) n.269+2457C>T
16	g.88733906C>A	CA397112559	HSALR1,PIEZO1	c.2329G>T (p.Gly777Trp) n.269+2458C>A	gnomAD v4
16	g.88733906C=	CA2241262219	HSALR1,PIEZO1	c.2329G= (p.Gly777=) n.269+2458C=
16	g.88733906C>G	CA397112561	HSALR1,PIEZO1	c.2329G>C (p.Gly777Arg) n.269+2458C>G	gnomAD v4
16	g.88733906C>T	CA286423092	HSALR1,PIEZO1	c.2329G>A (p.Gly777Arg) n.269+2458C>T	dbSNP
16	g.88733907T>A	CA397112563	HSALR1,PIEZO1	c.2328A>T (p.Glu776Asp) n.269+2459T>A
16	g.88733907T>C	CA497366593	HSALR1,PIEZO1	c.2328A>G (p.Glu776=) n.269+2459T>C	gnomAD v4
16	g.88733907T>G	CA397112565	HSALR1,PIEZO1	c.2328A>C (p.Glu776Asp) n.269+2459T>G
16	g.88733908del	CA2634881228	HSALR1,PIEZO1	c.2328del (p.Ala778GlnfsTer?) n.269+2460del	gnomAD v4
16	g.88733908T>A	CA397112566	HSALR1,PIEZO1	c.2327A>T (p.Glu776Val) n.269+2460T>A
16	g.88733908T>C	CA397112567	HSALR1,PIEZO1	c.2327A>G (p.Glu776Gly) n.269+2460T>C
16	g.88733908T>G	CA397112569	HSALR1,PIEZO1	c.2327A>C (p.Glu776Ala) n.269+2460T>G
16	g.88733909C>A	CA397112571	HSALR1,PIEZO1	c.2326G>T (p.Glu776Ter) n.269+2461C>A	gnomAD v4
16	g.88733909C=	CA2241262220	HSALR1,PIEZO1	c.2326G= (p.Glu776=) n.269+2461C=
16	g.88733909C>G	CA397112573	HSALR1,PIEZO1	c.2326G>C (p.Glu776Gln) n.269+2461C>G	ClinVar dbSNP gnomAD v2 gnomAD v4
16	g.88733909C>T	CA397112574	HSALR1,PIEZO1	c.2326G>A (p.Glu776Lys) n.269+2461C>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.88733910A>C	CA497366596	HSALR1,PIEZO1	c.2325T>G (p.Pro775=) n.269+2462A>C
16	g.88733910A>G	CA497366597	HSALR1,PIEZO1	c.2325T>C (p.Pro775=) n.269+2462A>G	gnomAD v4
16	g.88733910A>T	CA497366598	HSALR1,PIEZO1	c.2325T>A (p.Pro775=) n.269+2462A>T
16	g.88733911G>A	CA397112580	HSALR1,PIEZO1	c.2324C>T (p.Pro775Leu) n.269+2463G>A
16	g.88733911G>C	CA397112578	HSALR1,PIEZO1	c.2324C>G (p.Pro775Arg) n.269+2463G>C
16	g.88733911G>T	CA397112576	HSALR1,PIEZO1	c.2324C>A (p.Pro775His) n.269+2463G>T	gnomAD v4
16	g.88733912G>A	CA397112583	HSALR1,PIEZO1	c.2323C>T (p.Pro775Ser) n.269+2464G>A	dbSNP gnomAD v2 gnomAD v4
16	g.88733912G>C	CA397112581	HSALR1,PIEZO1	c.2323C>G (p.Pro775Ala) n.269+2464G>C
16	g.88733912G=	CA2241262221	HSALR1,PIEZO1	c.2323C= (p.Pro775=) n.269+2464G=
16	g.88733912G>T	CA397112584	HSALR1,PIEZO1	c.2323C>A (p.Pro775Thr) n.269+2464G>T	gnomAD v4
16	g.88733913C>A	CA497366602	HSALR1,PIEZO1	c.2322G>T (p.Val774=) n.269+2465C>A	gnomAD v4
16	g.88733913C>G	CA497366603	HSALR1,PIEZO1	c.2322G>C (p.Val774=) n.269+2465C>G
16	g.88733913C>T	CA497366604	HSALR1,PIEZO1	c.2322G>A (p.Val774=) n.269+2465C>T
16	g.88733914A=	CA2241262222	HSALR1,PIEZO1	c.2321T= (p.Val774=) n.269+2466A=
16	g.88733914A>C	CA397112585	HSALR1,PIEZO1	c.2321T>G (p.Val774Gly) n.269+2466A>C
16	g.88733914A>G	CA397112588	HSALR1,PIEZO1	c.2321T>C (p.Val774Ala) n.269+2466A>G	dbSNP
16	g.88733914A>T	CA397112587	HSALR1,PIEZO1	c.2321T>A (p.Val774Glu) n.269+2466A>T	dbSNP gnomAD v2 gnomAD v4
16	g.88733915C>A	CA397112590	HSALR1,PIEZO1	c.2320G>T (p.Val774Leu) n.269+2467C>A
16	g.88733915C=	CA2241262223	HSALR1,PIEZO1	c.2320G= (p.Val774=) n.269+2467C=
16	g.88733915C>G	CA397112593	HSALR1,PIEZO1	c.2320G>C (p.Val774Leu) n.269+2467C>G	dbSNP
16	g.88733915C>T	CA397112591	HSALR1,PIEZO1	c.2320G>A (p.Val774Met) n.269+2467C>T
16	g.88733916C>A	CA397112595	HSALR1,PIEZO1	c.2319G>T (p.Gln773His) n.269+2468C>A	gnomAD v4
16	g.88733916C=	CA2241262224	HSALR1,PIEZO1	c.2319G= (p.Gln773=) n.269+2468C=
16	g.88733916C>G	CA397112596	HSALR1,PIEZO1	c.2319G>C (p.Gln773His) n.269+2468C>G	dbSNP gnomAD v2 gnomAD v4
16	g.88733916C>T	CA497366607	HSALR1,PIEZO1	c.2319G>A (p.Gln773=) n.269+2468C>T	gnomAD v4
16	g.88733917T>A	CA397112597	HSALR1,PIEZO1	c.2318A>T (p.Gln773Leu) n.269+2469T>A
16	g.88733917T>C	CA397112598	HSALR1,PIEZO1	c.2318A>G (p.Gln773Arg) n.269+2469T>C	gnomAD v4
16	g.88733917T>G	CA397112599	HSALR1,PIEZO1	c.2318A>C (p.Gln773Pro) n.269+2469T>G
16	g.88733918G>A	CA397112600	HSALR1,PIEZO1	c.2317C>T (p.Gln773Ter) n.269+2470G>A
16	g.88733918G>C	CA397112601	HSALR1,PIEZO1	c.2317C>G (p.Gln773Glu) n.269+2470G>C
16	g.88733918G>T	CA397112604	HSALR1,PIEZO1	c.2317C>A (p.Gln773Lys) n.269+2470G>T	gnomAD v4
16	g.88733919C>A	CA497366608	HSALR1,PIEZO1	c.2316G>T (p.Thr772=) n.269+2471C>A	gnomAD v4
16	g.88733919C=	CA2241262225	HSALR1,PIEZO1	c.2316G= (p.Thr772=) n.269+2471C=
16	g.88733919C>G	CA286423111	HSALR1,PIEZO1	c.2316G>C (p.Thr772=) n.269+2471C>G	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.88733919C>T	CA286423108	HSALR1,PIEZO1	c.2316G>A (p.Thr772=) n.269+2471C>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.88733920G>A	CA8232810	HSALR1,PIEZO1	c.2315C>T (p.Thr772Met) n.269+2472G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.88733920G>C	CA286423120	HSALR1,PIEZO1	c.2315C>G (p.Thr772Arg) n.269+2472G>C	dbSNP gnomAD v3 gnomAD v4
16	g.88733920G=	CA2241262226	HSALR1,PIEZO1	c.2315C= (p.Thr772=) n.269+2472G=
16	g.88733920G>T	CA397112607	HSALR1,PIEZO1	c.2315C>A (p.Thr772Lys) n.269+2472G>T
16	g.88733921T>A	CA397112610	HSALR1,PIEZO1	c.2314A>T (p.Thr772Ser) n.269+2473T>A	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.88733921T>C	CA397112612	HSALR1,PIEZO1	c.2314A>G (p.Thr772Ala) n.269+2473T>C	dbSNP
16	g.88733921T>G	CA397112614	HSALR1,PIEZO1	c.2314A>C (p.Thr772Pro) n.269+2473T>G
16	g.88733921T=	CA2241262227	HSALR1,PIEZO1	c.2314A= (p.Thr772=) n.269+2473T=
16	g.88733922G>A	CA497366611	HSALR1,PIEZO1	c.2313C>T (p.Ala771=) n.269+2474G>A	gnomAD v4
16	g.88733922G>C	CA497366612	HSALR1,PIEZO1	c.2313C>G (p.Ala771=) n.269+2474G>C
16	g.88733922G>T	CA497366610	HSALR1,PIEZO1	c.2313C>A (p.Ala771=) n.269+2474G>T	gnomAD v4
16	g.88733922_88733923insTA	CA2634881229	HSALR1,PIEZO1	c.2312_2313insTA (p.Gln773ArgfsTer?) n.269+2474_269+2475insTA	gnomAD v4
16	g.88733923G>A	CA397112616	HSALR1,PIEZO1	c.2312C>T (p.Ala771Val) n.269+2475G>A	dbSNP gnomAD v4
16	g.88733923G>C	CA397112617	HSALR1,PIEZO1	c.2312C>G (p.Ala771Gly) n.269+2475G>C
16	g.88733923G=	CA2241262228	HSALR1,PIEZO1	c.2312C= (p.Ala771=) n.269+2475G=
16	g.88733923G>T	CA397112618	HSALR1,PIEZO1	c.2312C>A (p.Ala771Asp) n.269+2475G>T	gnomAD v4
16	g.88733923_88733924insA	CA2634881230	HSALR1,PIEZO1	c.2311_2312insT (p.Ala771ValfsTer6) n.269+2475_269+2476insA	gnomAD v4
16	g.88733924C>A	CA397112620	HSALR1,PIEZO1	c.2311G>T (p.Ala771Ser) n.269+2476C>A	gnomAD v4
16	g.88733924C>G	CA397112621	HSALR1,PIEZO1	c.2311G>C (p.Ala771Pro) n.269+2476C>G
16	g.88733924C>T	CA397112622	HSALR1,PIEZO1	c.2311G>A (p.Ala771Thr) n.269+2476C>T	gnomAD v4
16	g.88733925C>A	CA397112624	HSALR1,PIEZO1	c.2310G>T (p.Gln770His) n.269+2477C>A	gnomAD v4
16	g.88733925C>G	CA397112625	HSALR1,PIEZO1	c.2310G>C (p.Gln770His) n.269+2477C>G	gnomAD v4
16	g.88733925C>T	CA497366613	HSALR1,PIEZO1	c.2310G>A (p.Gln770=) n.269+2477C>T
16	g.88733926T>A	CA397112628	HSALR1,PIEZO1	c.2309A>T (p.Gln770Leu) n.269+2478T>A
16	g.88733926T>C	CA397112630	HSALR1,PIEZO1	c.2309A>G (p.Gln770Arg) n.269+2478T>C
16	g.88733926T>G	CA397112627	HSALR1,PIEZO1	c.2309A>C (p.Gln770Pro) n.269+2478T>G
16	g.88733927G>A	CA397112631	HSALR1,PIEZO1	c.2308C>T (p.Gln770Ter) n.269+2479G>A
16	g.88733927G>C	CA397112632	HSALR1,PIEZO1	c.2308C>G (p.Gln770Glu) n.269+2479G>C
16	g.88733927G>T	CA397112634	HSALR1,PIEZO1	c.2308C>A (p.Gln770Lys) n.269+2479G>T	gnomAD v4
16	g.88733928G>A	CA497366617	HSALR1,PIEZO1	c.2307C>T (p.His769=) n.269+2480G>A	gnomAD v4
16	g.88733928G>C	CA8232811	HSALR1,PIEZO1	c.2307C>G (p.His769Gln) n.269+2480G>C	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.88733928G=	CA2241262229	HSALR1,PIEZO1	c.2307C= (p.His769=) n.269+2480G=
16	g.88733928G>T	CA397112636	HSALR1,PIEZO1	c.2307C>A (p.His769Gln) n.269+2480G>T	gnomAD v4
16	g.88733929del	CA2634881231	HSALR1,PIEZO1	c.2306del (p.His769ProfsTer?) n.269+2481del	gnomAD v4
16	g.88733929T>A	CA397112638	HSALR1,PIEZO1	c.2306A>T (p.His769Leu) n.269+2481T>A
16	g.88733929T>C	CA397112639	HSALR1,PIEZO1	c.2306A>G (p.His769Arg) n.269+2481T>C
16	g.88733929T>G	CA397112641	HSALR1,PIEZO1	c.2306A>C (p.His769Pro) n.269+2481T>G	gnomAD v4
16	g.88733930G>A	CA397112642	HSALR1,PIEZO1	c.2305C>T (p.His769Tyr) n.269+2482G>A	dbSNP gnomAD v2 gnomAD v4
16	g.88733930G>C	CA397112643	HSALR1,PIEZO1	c.2305C>G (p.His769Asp) n.269+2482G>C
16	g.88733930G=	CA2241262230	HSALR1,PIEZO1	c.2305C= (p.His769=) n.269+2482G=
16	g.88733930G>T	CA397112644	HSALR1,PIEZO1	c.2305C>A (p.His769Asn) n.269+2482G>T
16	g.88733933del	CA2634881232	HSALR1,PIEZO1	c.2305del (p.His769ThrfsTer?) n.269+2485del	gnomAD v4
16	g.88733931G>A	CA497366618	HSALR1,PIEZO1	c.2304C>T (p.Pro768=) n.269+2483G>A	dbSNP gnomAD v3 gnomAD v4
16	g.88733931G>C	CA497366619	HSALR1,PIEZO1	c.2304C>G (p.Pro768=) n.269+2483G>C
16	g.88733931G=	CA2241262231	HSALR1,PIEZO1	c.2304C= (p.Pro768=) n.269+2483G=
16	g.88733931G>T	CA497366621	HSALR1,PIEZO1	c.2304C>A (p.Pro768=) n.269+2483G>T	gnomAD v4
16	g.88733932G>A	CA397112648	HSALR1,PIEZO1	c.2303C>T (p.Pro768Leu) n.269+2484G>A	gnomAD v4
16	g.88733932G>C	CA397112647	HSALR1,PIEZO1	c.2303C>G (p.Pro768Arg) n.269+2484G>C	gnomAD v4
16	g.88733932G>T	CA397112645	HSALR1,PIEZO1	c.2303C>A (p.Pro768His) n.269+2484G>T	gnomAD v4
16	g.88733933G>A	CA397112650	HSALR1,PIEZO1	c.2302C>T (p.Pro768Ser) n.269+2485G>A
16	g.88733933G>C	CA397112651	HSALR1,PIEZO1	c.2302C>G (p.Pro768Ala) n.269+2485G>C
16	g.88733933G>T	CA397112652	HSALR1,PIEZO1	c.2302C>A (p.Pro768Thr) n.269+2485G>T	gnomAD v4
16	g.88733934A>C	CA497366624	HSALR1,PIEZO1	c.2301T>G (p.Thr767=) n.269+2486A>C	dbSNP
16	g.88733934A>G	CA497366625	HSALR1,PIEZO1	c.2301T>C (p.Thr767=) n.269+2486A>G	gnomAD v4
16	g.88733934A>T	CA497366626	HSALR1,PIEZO1	c.2301T>A (p.Thr767=) n.269+2486A>T
16	g.88733935G>A	CA8232812	HSALR1,PIEZO1	c.2300C>T (p.Thr767Ile) n.269+2487G>A	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.88733935G>C	CA397112653	HSALR1,PIEZO1	c.2300C>G (p.Thr767Ser) n.269+2487G>C
16	g.88733935G=	CA2241262232	HSALR1,PIEZO1	c.2300C= (p.Thr767=) n.269+2487G=
16	g.88733935G>T	CA397112654	HSALR1,PIEZO1	c.2300C>A (p.Thr767Asn) n.269+2487G>T	gnomAD v4
16	g.88733936T>A	CA397112655	HSALR1,PIEZO1	c.2299A>T (p.Thr767Ser) n.269+2488T>A
16	g.88733936T>C	CA397112656	HSALR1,PIEZO1	c.2299A>G (p.Thr767Ala) n.269+2488T>C
16	g.88733936T>G	CA397112658	HSALR1,PIEZO1	c.2299A>C (p.Thr767Pro) n.269+2488T>G	dbSNP
16	g.88733936T=	CA2241262233	HSALR1,PIEZO1	c.2299A= (p.Thr767=) n.269+2488T=
16	g.88733937G>A	CA286423123	HSALR1,PIEZO1	c.2298C>T (p.Ala766=) n.269+2489G>A	dbSNP gnomAD v3 gnomAD v4
16	g.88733937G>C	CA497366631	HSALR1,PIEZO1	c.2298C>G (p.Ala766=) n.269+2489G>C	dbSNP gnomAD v3 gnomAD v4
16	g.88733937G=	CA2241262234	HSALR1,PIEZO1	c.2298C= (p.Ala766=) n.269+2489G=
16	g.88733937G>T	CA497366632	HSALR1,PIEZO1	c.2298C>A (p.Ala766=) n.269+2489G>T	gnomAD v4
16	g.88733938G>A	CA286423126	HSALR1,PIEZO1	c.2297C>T (p.Ala766Val) n.269+2490G>A	dbSNP gnomAD v4 COSMIC
16	g.88733938G>C	CA397112661	HSALR1,PIEZO1	c.2297C>G (p.Ala766Gly) n.269+2490G>C
16	g.88733938G=	CA2241262235	HSALR1,PIEZO1	c.2297C= (p.Ala766=) n.269+2490G=
16	g.88733938G>T	CA397112662	HSALR1,PIEZO1	c.2297C>A (p.Ala766Asp) n.269+2490G>T	gnomAD v4
16	g.88733939C>A	CA397112666	HSALR1,PIEZO1	c.2296G>T (p.Ala766Ser) n.269+2491C>A	gnomAD v4
16	g.88733939C=	CA2241262236	HSALR1,PIEZO1	c.2296G= (p.Ala766=) n.269+2491C=
16	g.88733939C>G	CA397112664	HSALR1,PIEZO1	c.2296G>C (p.Ala766Pro) n.269+2491C>G	gnomAD v4
16	g.88733939C>T	CA397112663	HSALR1,PIEZO1	c.2296G>A (p.Ala766Thr) n.269+2491C>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.88733940C>A	CA497366633	HSALR1,PIEZO1	c.2295G>T (p.Val765=) n.269+2492C>A	gnomAD v4
16	g.88733940C=	CA2241262237	HSALR1,PIEZO1	c.2295G= (p.Val765=) n.269+2492C=
16	g.88733940C>G	CA497366634	HSALR1,PIEZO1	c.2295G>C (p.Val765=) n.269+2492C>G
16	g.88733940C>T	CA286423130	HSALR1,PIEZO1	c.2295G>A (p.Val765=) n.269+2492C>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.88733941A=	CA2241262238	HSALR1,PIEZO1	c.2294T= (p.Val765=) n.269+2493A=
16	g.88733941A>C	CA397112671	HSALR1,PIEZO1	c.2294T>G (p.Val765Gly) n.269+2493A>C	dbSNP gnomAD v4
16	g.88733941A>G	CA397112668	HSALR1,PIEZO1	c.2294T>C (p.Val765Ala) n.269+2493A>G
16	g.88733941A>T	CA397112669	HSALR1,PIEZO1	c.2294T>A (p.Val765Glu) n.269+2493A>T
16	g.88733942C>A	CA397112672	HSALR1,PIEZO1	c.2293G>T (p.Val765Leu) n.269+2494C>A	dbSNP gnomAD v2 gnomAD v4
16	g.88733942C=	CA2241262239	HSALR1,PIEZO1	c.2293G= (p.Val765=) n.269+2494C=
16	g.88733942C>G	CA397112674	HSALR1,PIEZO1	c.2293G>C (p.Val765Leu) n.269+2494C>G	ClinVar gnomAD v4
16	g.88733942C>T	CA8232813	HSALR1,PIEZO1	c.2293G>A (p.Val765Met) n.269+2494C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16	g.88733943G>A	CA8232814	HSALR1,PIEZO1	c.2292C>T (p.Gly764=) n.269+2495G>A	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.88733943G>C	CA497366639	HSALR1,PIEZO1	c.2292C>G (p.Gly764=) n.269+2495G>C	gnomAD v4
16	g.88733943G=	CA2241262240	HSALR1,PIEZO1	c.2292C= (p.Gly764=) n.269+2495G=
16	g.88733943G>T	CA497366637	HSALR1,PIEZO1	c.2292C>A (p.Gly764=) n.269+2495G>T	gnomAD v4
16	g.88733944C>A	CA397112677	HSALR1,PIEZO1	c.2291G>T (p.Gly764Val) n.269+2496C>A	gnomAD v4
16	g.88733944C=	CA2241262241	HSALR1,PIEZO1	c.2291G= (p.Gly764=) n.269+2496C=
16	g.88733944C>G	CA397112678	HSALR1,PIEZO1	c.2291G>C (p.Gly764Ala) n.269+2496C>G
16	g.88733944C>T	CA8232815	HSALR1,PIEZO1	c.2291G>A (p.Gly764Asp) n.269+2496C>T	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.88733945C>A	CA397112679	HSALR1,PIEZO1	c.2290G>T (p.Gly764Cys) n.269+2497C>A
16	g.88733945C=	CA2241262242	HSALR1,PIEZO1	c.2290G= (p.Gly764=) n.269+2497C=
16	g.88733945C>G	CA397112681	HSALR1,PIEZO1	c.2290G>C (p.Gly764Arg) n.269+2497C>G
16	g.88733945C>T	CA397112682	HSALR1,PIEZO1	c.2290G>A (p.Gly764Ser) n.269+2497C>T	dbSNP gnomAD v4
16	g.88733946C>A	CA497366641	HSALR1,PIEZO1	c.2289G>T (p.Leu763=) n.269+2498C>A	gnomAD v4
16	g.88733946C>G	CA497366642	HSALR1,PIEZO1	c.2289G>C (p.Leu763=) n.269+2498C>G
16	g.88733946C>T	CA497366643	HSALR1,PIEZO1	c.2289G>A (p.Leu763=) n.269+2498C>T	gnomAD v4
16	g.88733947A>C	CA397112683	HSALR1,PIEZO1	c.2288T>G (p.Leu763Arg) n.269+2499A>C
16	g.88733947A>G	CA397112686	HSALR1,PIEZO1	c.2288T>C (p.Leu763Pro) n.269+2499A>G	gnomAD v4
16	g.88733947A>T	CA397112685	HSALR1,PIEZO1	c.2288T>A (p.Leu763Gln) n.269+2499A>T
16	g.88733948G>A	CA497366670	HSALR1,PIEZO1	c.2287C>T (p.Leu763=) n.269+2500G>A	dbSNP gnomAD v4
16	g.88733948G>C	CA397112787	HSALR1,PIEZO1	c.2287C>G (p.Leu763Val) n.269+2500G>C
16	g.88733948G=	CA2241262243	HSALR1,PIEZO1	c.2287C= (p.Leu763=) n.269+2500G=
16	g.88733948G>T	CA397112788	HSALR1,PIEZO1	c.2287C>A (p.Leu763Met) n.269+2500G>T	gnomAD v4 COSMIC
16	g.88733949C>A	CA497366671	HSALR1,PIEZO1	c.2286G>T (p.Gly762=) n.269+2501C>A	gnomAD v4
16	g.88733949C=	CA2241262244	HSALR1,PIEZO1	c.2286G= (p.Gly762=) n.269+2501C=
16	g.88733949C>G	CA497366673	HSALR1,PIEZO1	c.2286G>C (p.Gly762=) n.269+2501C>G	dbSNP gnomAD v3 gnomAD v4
16	g.88733949C>T	CA497366674	HSALR1,PIEZO1	c.2286G>A (p.Gly762=) n.269+2501C>T	dbSNP gnomAD v4
16	g.88733950C>A	CA397112789	HSALR1,PIEZO1	c.2285G>T (p.Gly762Val) n.269+2502C>A
16	g.88733950C=	CA2241262245	HSALR1,PIEZO1	c.2285G= (p.Gly762=) n.269+2502C=
16	g.88733950C>G	CA397112791	HSALR1,PIEZO1	c.2285G>C (p.Gly762Ala) n.269+2502C>G
16	g.88733950C>T	CA8232816	HSALR1,PIEZO1	c.2285G>A (p.Gly762Glu) n.269+2502C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.88733951C>A	CA286423158	HSALR1,PIEZO1	c.2284G>T (p.Gly762Trp) n.269+2503C>A	ClinVar dbSNP gnomAD v3 gnomAD v4
16	g.88733951C=	CA2241262246	HSALR1,PIEZO1	c.2284G= (p.Gly762=) n.269+2503C=
16	g.88733951C>G	CA397112793	HSALR1,PIEZO1	c.2284G>C (p.Gly762Arg) n.269+2503C>G	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.88733951C>T	CA397112794	HSALR1,PIEZO1	c.2284G>A (p.Gly762Arg) n.269+2503C>T	dbSNP gnomAD v3 gnomAD v4
16	g.88733952C>A	CA397112795	HSALR1,PIEZO1	c.2283G>T (p.Glu761Asp) n.269+2504C>A	gnomAD v4
16	g.88733952C=	CA2241262247	HSALR1,PIEZO1	c.2283G= (p.Glu761=) n.269+2504C=
16	g.88733952C>G	CA397112797	HSALR1,PIEZO1	c.2283G>C (p.Glu761Asp) n.269+2504C>G	gnomAD v4
16	g.88733952C>T	CA286423162	HSALR1,PIEZO1	c.2283G>A (p.Glu761=) n.269+2504C>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.88733953T>A	CA397112801	HSALR1,PIEZO1	c.2282A>T (p.Glu761Val) n.269+2505T>A	gnomAD v4
16	g.88733953T>C	CA397112800	HSALR1,PIEZO1	c.2282A>G (p.Glu761Gly) n.269+2505T>C	dbSNP gnomAD v4
16	g.88733953T>G	CA397112799	HSALR1,PIEZO1	c.2282A>C (p.Glu761Ala) n.269+2505T>G	dbSNP
16	g.88733953T=	CA2241262248	HSALR1,PIEZO1	c.2282A= (p.Glu761=) n.269+2505T=
16	g.88733953_88733954insA	CA2634881233	HSALR1,PIEZO1	c.2281_2282insT (p.Glu761ValfsTer16) n.269+2505_269+2506insA	gnomAD v4
16	g.88733954C>A	CA397112804	HSALR1,PIEZO1	c.2281G>T (p.Glu761Ter) n.269+2506C>A	gnomAD v4
16	g.88733954C=	CA2241262249	HSALR1,PIEZO1	c.2281G= (p.Glu761=) n.269+2506C=
16	g.88733954C>G	CA286423167	HSALR1,PIEZO1	c.2281G>C (p.Glu761Gln) n.269+2506C>G	dbSNP gnomAD v3 gnomAD v4
16	g.88733954C>T	CA286423172	HSALR1,PIEZO1	c.2281G>A (p.Glu761Lys) n.269+2506C>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.88733955G>A	CA8232817	HSALR1,PIEZO1	c.2280C>T (p.Asp760=) n.269+2507G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.88733955G>C	CA397112806	HSALR1,PIEZO1	c.2280C>G (p.Asp760Glu) n.269+2507G>C	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.88733955G=	CA2241262250	HSALR1,PIEZO1	c.2280C= (p.Asp760=) n.269+2507G=
16	g.88733955G>T	CA397112807	HSALR1,PIEZO1	c.2280C>A (p.Asp760Glu) n.269+2507G>T	gnomAD v4
16	g.88733956T>A	CA397112809	HSALR1,PIEZO1	c.2279A>T (p.Asp760Val) n.269+2508T>A
16	g.88733956T>C	CA397112810	HSALR1,PIEZO1	c.2279A>G (p.Asp760Gly) n.269+2508T>C
16	g.88733956T>G	CA397112812	HSALR1,PIEZO1	c.2279A>C (p.Asp760Ala) n.269+2508T>G
16	g.88733957C>A	CA397112814	HSALR1,PIEZO1	c.2278G>T (p.Asp760Tyr) n.269+2509C>A	gnomAD v4
16	g.88733957C=	CA2241262251	HSALR1,PIEZO1	c.2278G= (p.Asp760=) n.269+2509C=
16	g.88733957C>G	CA397112816	HSALR1,PIEZO1	c.2278G>C (p.Asp760His) n.269+2509C>G
16	g.88733957C>T	CA397112817	HSALR1,PIEZO1	c.2278G>A (p.Asp760Asn) n.269+2509C>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.88733958C>A	CA397112819	HSALR1,PIEZO1	c.2277G>T (p.Arg759Ser) n.269+2510C>A	gnomAD v4
16	g.88733958C>G	CA397112821	HSALR1,PIEZO1	c.2277G>C (p.Arg759Ser) n.269+2510C>G
16	g.88733958C>T	CA497366679	HSALR1,PIEZO1	c.2277G>A (p.Arg759=) n.269+2510C>T
16	g.88733959C>A	CA397112823	HSALR1,PIEZO1	c.2276G>T (p.Arg759Met) n.269+2511C>A
16	g.88733959C=	CA2241262252	HSALR1,PIEZO1	c.2276G= (p.Arg759=) n.269+2511C=
16	g.88733959C>G	CA286423183	HSALR1,PIEZO1	c.2276G>C (p.Arg759Thr) n.269+2511C>G	dbSNP gnomAD v4
16	g.88733959C>T	CA397112824	HSALR1,PIEZO1	c.2276G>A (p.Arg759Lys) n.269+2511C>T	gnomAD v4
16	g.88733960T>A	CA397112826	HSALR1,PIEZO1	c.2275A>T (p.Arg759Trp) n.269+2512T>A	gnomAD v4
16	g.88733960T>C	CA397112828	HSALR1,PIEZO1	c.2275A>G (p.Arg759Gly) n.269+2512T>C	gnomAD v4
16	g.88733960T>G	CA497366680	HSALR1,PIEZO1	c.2275A>C (p.Arg759=) n.269+2512T>G
16	g.88733961G>A	CA8232818	HSALR1,PIEZO1	c.2274C>T (p.Ser758=) n.269+2513G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.88733961G>C	CA286423187	HSALR1,PIEZO1	c.2274C>G (p.Ser758=) n.269+2513G>C	dbSNP
16	g.88733961G=	CA2241262253	HSALR1,PIEZO1	c.2274C= (p.Ser758=) n.269+2513G=
16	g.88733961G>T	CA497366683	HSALR1,PIEZO1	c.2274C>A (p.Ser758=) n.269+2513G>T
16	g.88733962del	CA2634881235	HSALR1,PIEZO1	c.2274del (p.Arg759GlyfsTer?) n.269+2514del	gnomAD v4
16	g.88733961_88733975dup	CA2634881234	HSALR1,PIEZO1	c.2260_2274dup (p.Ser758_Arg759insGluGluGluAspSer) n.269+2513_269+2527dup	gnomAD v4
16	g.88733962G>A	CA397112829	HSALR1,PIEZO1	c.2273C>T (p.Ser758Phe) n.269+2514G>A
16	g.88733962G>C	CA397112831	HSALR1,PIEZO1	c.2273C>G (p.Ser758Cys) n.269+2514G>C	dbSNP
16	g.88733962G=	CA2241262254	HSALR1,PIEZO1	c.2273C= (p.Ser758=) n.269+2514G=
16	g.88733962G>T	CA397112832	HSALR1,PIEZO1	c.2273C>A (p.Ser758Tyr) n.269+2514G>T	gnomAD v4
16	g.88733963A>C	CA397112834	HSALR1,PIEZO1	c.2272T>G (p.Ser758Ala) n.269+2515A>C
16	g.88733963A>G	CA397112835	HSALR1,PIEZO1	c.2272T>C (p.Ser758Pro) n.269+2515A>G
16	g.88733963A>T	CA397112836	HSALR1,PIEZO1	c.2272T>A (p.Ser758Thr) n.269+2515A>T	gnomAD v4
16	g.88733964G>A	CA497366685	HSALR1,PIEZO1	c.2271C>T (p.Asp757=) n.269+2516G>A	dbSNP gnomAD v4
16	g.88733964G>C	CA397112837	HSALR1,PIEZO1	c.2271C>G (p.Asp757Glu) n.269+2516G>C	dbSNP gnomAD v3 gnomAD v4
16	g.88733964G=	CA2241262256	HSALR1,PIEZO1	c.2271C= (p.Asp757=) n.269+2516G=
16	g.88733964G>T	CA397112838	HSALR1,PIEZO1	c.2271C>A (p.Asp757Glu) n.269+2516G>T	gnomAD v4
16	g.88733964_88733976delinsGTCCTCCTCCTCC	CA2241262255	HSALR1,PIEZO1	c.2259_2271delinsGGAGGAGGAGGAC (p.Glu753=) n.269+2516_269+2528delinsGTCCTCCTCCTCC
16	g.88733965T>A	CA397112844	HSALR1,PIEZO1	c.2270A>T (p.Asp757Val) n.269+2517T>A
16	g.88733965T>C	CA397112841	HSALR1,PIEZO1	c.2270A>G (p.Asp757Gly) n.269+2517T>C
16	g.88733965T>G	CA397112839	HSALR1,PIEZO1	c.2270A>C (p.Asp757Ala) n.269+2517T>G
16	g.88733987_88733989dup	CA8232820	HSALR1,PIEZO1	c.2268_2270dup (p.Glu756_Asp757insGlu) n.269+2539_269+2541dup	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16	g.88733984_88733989dup	CA8232822	HSALR1,PIEZO1	c.2265_2270dup (p.Glu756_Asp757insGluGlu) n.269+2536_269+2541dup	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.88733981_88733989dup	CA8232823	HSALR1,PIEZO1	c.2262_2270dup (p.Glu756_Asp757insGluGluGlu) n.269+2533_269+2541dup	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.88733978_88733989dup	CA2634881236	HSALR1,PIEZO1	c.2259_2270dup (p.Glu756_Asp757insGluGluGluGlu) n.269+2530_269+2541dup	gnomAD v4
16	g.88733975_88733989dup	CA725647277	HSALR1,PIEZO1	c.2256_2270dup (p.Glu756_Asp757insGluGluGluGluGlu) n.269+2527_269+2541dup	dbSNP
16	g.88733987_88733989del	CA8232819	HSALR1,PIEZO1	c.2268_2270del (p.Glu756del) n.269+2539_269+2541del	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.88733984_88733989del	CA8232821	HSALR1,PIEZO1	c.2265_2270del (p.Glu755_Glu756del) n.269+2536_269+2541del	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.88733981_88733989del	CA286423252	HSALR1,PIEZO1	c.2262_2270del (p.Glu754_Glu756del) n.269+2533_269+2541del	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.88733978_88733989del	CA286423232	HSALR1,PIEZO1	c.2259_2270del (p.Glu753_Glu756del) n.269+2530_269+2541del	dbSNP gnomAD v3 gnomAD v4
16	g.88733975_88733989del	CA2634881237	HSALR1,PIEZO1	c.2256_2270del (p.Glu752_Glu756del) n.269+2527_269+2541del	gnomAD v4
16	g.88733966C>A	CA397112845	HSALR1,PIEZO1	c.2269G>T (p.Asp757Tyr) n.269+2518C>A	gnomAD v4
16	g.88733966C=	CA2241262257	HSALR1,PIEZO1	c.2269G= (p.Asp757=) n.269+2518C=
16	g.88733966C>G	CA397112846	HSALR1,PIEZO1	c.2269G>C (p.Asp757His) n.269+2518C>G
16	g.88733966C>T	CA397112848	HSALR1,PIEZO1	c.2269G>A (p.Asp757Asn) n.269+2518C>T	dbSNP gnomAD v2 gnomAD v4
16	g.88733967del	CA2634881238	HSALR1,PIEZO1	c.2269del (p.Asp757ThrfsTer?) n.269+2519del	gnomAD v4
16	g.88733967C>A	CA397112849	HSALR1,PIEZO1	c.2268G>T (p.Glu756Asp) n.269+2519C>A	gnomAD v4
16	g.88733967C=	CA2241262258	HSALR1,PIEZO1	c.2268G= (p.Glu756=) n.269+2519C=
16	g.88733967C>G	CA397112851	HSALR1,PIEZO1	c.2268G>C (p.Glu756Asp) n.269+2519C>G	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.88733967C>T	CA286423268	HSALR1,PIEZO1	c.2268G>A (p.Glu756=) n.269+2519C>T	dbSNP gnomAD v3 gnomAD v4
16	g.88733971_88733972insACTCCT	CA2576093167	HSALR1,PIEZO1	c.2268_2269insTAGGAG n.269+2523_269+2524insACTCCT
16	g.88733968T>A	CA397112853	HSALR1,PIEZO1	c.2267A>T (p.Glu756Val) n.269+2520T>A	gnomAD v4
16	g.88733968T>C	CA397112854	HSALR1,PIEZO1	c.2267A>G (p.Glu756Gly) n.269+2520T>C
16	g.88733968T>G	CA397112855	HSALR1,PIEZO1	c.2267A>C (p.Glu756Ala) n.269+2520T>G
16	g.88733968dup	CA725647288	HSALR1,PIEZO1	c.2267dup (p.Asp757GlyfsTer20) n.269+2520dup	dbSNP gnomAD v3 gnomAD v4
16	g.88733969C>A	CA397112858	HSALR1,PIEZO1	c.2266G>T (p.Glu756Ter) n.269+2521C>A	gnomAD v4
16	g.88733969C=	CA2241262259	HSALR1,PIEZO1	c.2266G= (p.Glu756=) n.269+2521C=
16	g.88733969C>G	CA397112860	HSALR1,PIEZO1	c.2266G>C (p.Glu756Gln) n.269+2521C>G	dbSNP
16	g.88733969C>T	CA286423286	HSALR1,PIEZO1	c.2266G>A (p.Glu756Lys) n.269+2521C>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.88733970C>A	CA397112862	HSALR1,PIEZO1	c.2265G>T (p.Glu755Asp) n.269+2522C>A	gnomAD v4
16	g.88733970C=	CA2241262261	HSALR1,PIEZO1	c.2265G= (p.Glu755=) n.269+2522C=
16	g.88733970C>G	CA397112864	HSALR1,PIEZO1	c.2265G>C (p.Glu755Asp) n.269+2522C>G	dbSNP gnomAD v3 gnomAD v4
16	g.88733970C>T	CA497366693	HSALR1,PIEZO1	c.2265G>A (p.Glu755=) n.269+2522C>T	dbSNP gnomAD v2 gnomAD v4
16	g.88733970_88733980delinsCTCCTCCTCCT	CA2241262260	HSALR1,PIEZO1	c.2255_2265delinsAGGAGGAGGAG (p.Glu752=) n.269+2522_269+2532delinsCTCCTCCTCCT
16	g.88733971T>A	CA397112869	HSALR1,PIEZO1	c.2264A>T (p.Glu755Val) n.269+2523T>A
16	g.88733971T>C	CA397112867	HSALR1,PIEZO1	c.2264A>G (p.Glu755Gly) n.269+2523T>C
16	g.88733971T>G	CA397112865	HSALR1,PIEZO1	c.2264A>C (p.Glu755Ala) n.269+2523T>G
16	g.88733971_88733980del	CA8232824	HSALR1,PIEZO1	c.2255_2264del (p.Glu752GlyfsTer?) n.269+2523_269+2532del	dbSNP ExAC
16	g.88733972C>A	CA352205	HSALR1,PIEZO1	c.2263G>T (p.Glu755Ter) n.269+2524C>A	ClinVar dbSNP gnomAD v4
16	g.88733972C=	CA2241262262	HSALR1,PIEZO1	c.2263G= (p.Glu755=) n.269+2524C=
16	g.88733972C>G	CA397112871	HSALR1,PIEZO1	c.2263G>C (p.Glu755Gln) n.269+2524C>G
16	g.88733972C>T	CA397112873	HSALR1,PIEZO1	c.2263G>A (p.Glu755Lys) n.269+2524C>T	dbSNP gnomAD v2 gnomAD v4
16	g.88733973C>A	CA397112875	HSALR1,PIEZO1	c.2262G>T (p.Glu754Asp) n.269+2525C>A	dbSNP gnomAD v2 gnomAD v4
16	g.88733973C=	CA2241262263	HSALR1,PIEZO1	c.2262G= (p.Glu754=) n.269+2525C=
16	g.88733973C>G	CA397112876	HSALR1,PIEZO1	c.2262G>C (p.Glu754Asp) n.269+2525C>G
16	g.88733973C>T	CA286423316	HSALR1,PIEZO1	c.2262G>A (p.Glu754=) n.269+2525C>T	dbSNP gnomAD v4
16	g.88733974T>A	CA397112879	HSALR1,PIEZO1	c.2261A>T (p.Glu754Val) n.269+2526T>A
16	g.88733974T>C	CA397112877	HSALR1,PIEZO1	c.2261A>G (p.Glu754Gly) n.269+2526T>C	gnomAD v4
16	g.88733974T>G	CA397112878	HSALR1,PIEZO1	c.2261A>C (p.Glu754Ala) n.269+2526T>G
16	g.88733975C>A	CA397112880	HSALR1,PIEZO1	c.2260G>T (p.Glu754Ter) n.269+2527C>A
16	g.88733975C=	CA2241262264	HSALR1,PIEZO1	c.2260G= (p.Glu754=) n.269+2527C=
16	g.88733975C>G	CA8232825	HSALR1,PIEZO1	c.2260G>C (p.Glu754Gln) n.269+2527C>G	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.88733975C>T	CA397112882	HSALR1,PIEZO1	c.2260G>A (p.Glu754Lys) n.269+2527C>T	gnomAD v4
16	g.88733976C>A	CA397112884	HSALR1,PIEZO1	c.2259G>T (p.Glu753Asp) n.269+2528C>A	gnomAD v4
16	g.88733976C=	CA2241262265	HSALR1,PIEZO1	c.2259G= (p.Glu753=) n.269+2528C=
16	g.88733976C>G	CA397112886	HSALR1,PIEZO1	c.2259G>C (p.Glu753Asp) n.269+2528C>G
16	g.88733976C>T	CA497366695	HSALR1,PIEZO1	c.2259G>A (p.Glu753=) n.269+2528C>T	dbSNP gnomAD v3 gnomAD v4
16	g.88733978_88733992del	CA2634881239	HSALR1,PIEZO1	c.2245_2259del (p.Gln749_Glu753del) n.269+2530_269+2544del	gnomAD v4
16	g.88733977T>A	CA397112887	HSALR1,PIEZO1	c.2258A>T (p.Glu753Val) n.269+2529T>A
16	g.88733977T>C	CA397112890	HSALR1,PIEZO1	c.2258A>G (p.Glu753Gly) n.269+2529T>C	gnomAD v4
16	g.88733977T>G	CA397112888	HSALR1,PIEZO1	c.2258A>C (p.Glu753Ala) n.269+2529T>G
16	g.88733978C>A	CA397112892	HSALR1,PIEZO1	c.2257G>T (p.Glu753Ter) n.269+2530C>A	ClinVar dbSNP
16	g.88733978C=	CA2241262266	HSALR1,PIEZO1	c.2257G= (p.Glu753=) n.269+2530C=
16	g.88733978C>G	CA397112894	HSALR1,PIEZO1	c.2257G>C (p.Glu753Gln) n.269+2530C>G
16	g.88733978C>T	CA397112896	HSALR1,PIEZO1	c.2257G>A (p.Glu753Lys) n.269+2530C>T	dbSNP gnomAD v4
16	g.88733979C>A	CA397112898	HSALR1,PIEZO1	c.2256G>T (p.Glu752Asp) n.269+2531C>A	gnomAD v4
16	g.88733979C=	CA2241262267	HSALR1,PIEZO1	c.2256G= (p.Glu752=) n.269+2531C=
16	g.88733979C>G	CA397112899	HSALR1,PIEZO1	c.2256G>C (p.Glu752Asp) n.269+2531C>G	gnomAD v4
16	g.88733979C>T	CA497366698	HSALR1,PIEZO1	c.2256G>A (p.Glu752=) n.269+2531C>T	dbSNP gnomAD v3 gnomAD v4
16	g.88733981_88733992del	CA2576093169	HSALR1,PIEZO1	c.2245_2256del (p.Gln749_Glu752del) n.269+2533_269+2544del	gnomAD v4
16	g.88733984_88734010del	CA2634881240	HSALR1,PIEZO1	c.2230_2256del (p.His744_Glu752del) n.269+2536_269+2562del	gnomAD v4
16	g.88733980T>A	CA397112901	HSALR1,PIEZO1	c.2255A>T (p.Glu752Val) n.269+2532T>A
16	g.88733980T>C	CA397112903	HSALR1,PIEZO1	c.2255A>G (p.Glu752Gly) n.269+2532T>C	gnomAD v4
16	g.88733980T>G	CA397112905	HSALR1,PIEZO1	c.2255A>C (p.Glu752Ala) n.269+2532T>G
16	g.88733981C>A	CA397112906	HSALR1,PIEZO1	c.2254G>T (p.Glu752Ter) n.269+2533C>A
16	g.88733981C=	CA2241262270	HSALR1,PIEZO1	c.2254G= (p.Glu752=) n.269+2533C=
16	g.88733981C>G	CA397112908	HSALR1,PIEZO1	c.2254G>C (p.Glu752Gln) n.269+2533C>G
16	g.88733981C>T	CA397112910	HSALR1,PIEZO1	c.2254G>A (p.Glu752Lys) n.269+2533C>T	dbSNP gnomAD v3 gnomAD v4
16	g.88733981_88733990delinsCCTCCTCCTG	CA2241262268	HSALR1,PIEZO1	c.2245_2254delinsCAGGAGGAGG (p.Gln749=) n.269+2533_269+2542delinsCCTCCTCCTG
16	g.88733981_88734005delinsCCTCCTCCTGCTGCTGCTGCTGATG	CA2241262269	HSALR1,PIEZO1	c.2230_2254delinsCATCAGCAGCAGCAGCAGGAGGAGG (p.His744=) n.269+2533_269+2557delinsCCTCCTCCTGCTGCTGCTGCTGATG
16	g.88733982C>A	CA397112915	HSALR1,PIEZO1	c.2253G>T (p.Glu751Asp) n.269+2534C>A	gnomAD v4
16	g.88733982C=	CA2241262271	HSALR1,PIEZO1	c.2253G= (p.Glu751=) n.269+2534C=
16	g.88733982C>G	CA397112913	HSALR1,PIEZO1	c.2253G>C (p.Glu751Asp) n.269+2534C>G	dbSNP gnomAD v3 gnomAD v4
16	g.88733982C>T	CA286423327	HSALR1,PIEZO1	c.2253G>A (p.Glu751=) n.269+2534C>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.88733984_88733992del	CA8232826	HSALR1,PIEZO1	c.2245_2253del (p.Gln749_Glu751del) n.269+2536_269+2544del	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.88733987_88734010del	CA8232827	HSALR1,PIEZO1	c.2230_2253del (p.His744_Glu751del) n.269+2539_269+2562del	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.88733983T>A	CA397112917	HSALR1,PIEZO1	c.2252A>T (p.Glu751Val) n.269+2535T>A
16	g.88733983T>C	CA397112918	HSALR1,PIEZO1	c.2252A>G (p.Glu751Gly) n.269+2535T>C
16	g.88733983T>G	CA397112920	HSALR1,PIEZO1	c.2252A>C (p.Glu751Ala) n.269+2535T>G	ClinVar
16	g.88733984C>A	CA397112921	HSALR1,PIEZO1	c.2251G>T (p.Glu751Ter) n.269+2536C>A	gnomAD v4
16	g.88733984C=	CA2241262275	HSALR1,PIEZO1	c.2251G= (p.Glu751=) n.269+2536C=
16	g.88733984C>G	CA286423333	HSALR1,PIEZO1	c.2251G>C (p.Glu751Gln) n.269+2536C>G	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.88733984C>T	CA397112923	HSALR1,PIEZO1	c.2251G>A (p.Glu751Lys) n.269+2536C>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.88733984_88733986delinsCCT	CA2241262273	HSALR1,PIEZO1	c.2249_2251delinsAGG (p.Glu750=) n.269+2536_269+2538delinsCCT
16	g.88733984_88733990delinsCCTCCTG	CA2241262272	HSALR1,PIEZO1	c.2245_2251delinsCAGGAGG (p.Gln749=) n.269+2536_269+2542delinsCCTCCTG
16	g.88733984_88734005delinsCCTCCTGCTGCTGCTGCTGATG	CA2241262274	HSALR1,PIEZO1	c.2230_2251delinsCATCAGCAGCAGCAGCAGGAGG (p.His744=) n.269+2536_269+2557delinsCCTCCTGCTGCTGCTGCTGATG
16	g.88733985C>A	CA397112924	HSALR1,PIEZO1	c.2250G>T (p.Glu750Asp) n.269+2537C>A
16	g.88733985C=	CA2241262276	HSALR1,PIEZO1	c.2250G= (p.Glu750=) n.269+2537C=
16	g.88733985C>G	CA397112926	HSALR1,PIEZO1	c.2250G>C (p.Glu750Asp) n.269+2537C>G	gnomAD v4
16	g.88733985C>T	CA8232830	HSALR1,PIEZO1	c.2250G>A (p.Glu750=) n.269+2537C>T	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.88733985_88733986delinsCT	CA2241262277	HSALR1,PIEZO1	c.2249_2250delinsAG (p.Glu750=) n.269+2537_269+2538delinsCT
16	g.88733986_88733987del	CA286423352	HSALR1,PIEZO1	c.2249_2250del (p.Glu750GlyfsTer26) n.269+2538_269+2539del	dbSNP
16	g.88733987_88733992del	CA8232828	HSALR1,PIEZO1	c.2245_2250del (p.Gln749_Glu750del) n.269+2539_269+2544del	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16	g.88733996_88734016dup	CA624449498	HSALR1,PIEZO1	c.2230_2250dup (p.Glu750_Glu751insHisGlnGlnGlnGlnGlnGlu) n.269+2548_269+2568dup	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.88733996_88734016del	CA8232829	HSALR1,PIEZO1	c.2230_2250del (p.His744_Glu750del) n.269+2548_269+2568del	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.88733986del	CA919766384	HSALR1,PIEZO1	c.2249del (p.Glu750GlyfsTer?) n.269+2538del	dbSNP
16	g.88733986T>A	CA397112933	HSALR1,PIEZO1	c.2249A>T (p.Glu750Val) n.269+2538T>A
16	g.88733986T>C	CA397112934	HSALR1,PIEZO1	c.2249A>G (p.Glu750Gly) n.269+2538T>C	gnomAD v4
16	g.88733986T>G	CA397112931	HSALR1,PIEZO1	c.2249A>C (p.Glu750Ala) n.269+2538T>G
16	g.88733987_88733988insTTC	CA2241262278	HSALR1,PIEZO1	c.2249_2250insAGA (p.Glu750_Glu751insGlu) n.269+2539_269+2540insTTC	dbSNP
16	g.88733987C>A	CA397112939	HSALR1,PIEZO1	c.2248G>T (p.Glu750Ter) n.269+2539C>A	gnomAD v4
16	g.88733987C=	CA2241262280	HSALR1,PIEZO1	c.2248G= (p.Glu750=) n.269+2539C=
16	g.88733987C>G	CA8232832	HSALR1,PIEZO1	c.2248G>C (p.Glu750Gln) n.269+2539C>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16	g.88733987C>T	CA397112938	HSALR1,PIEZO1	c.2248G>A (p.Glu750Lys) n.269+2539C>T	dbSNP gnomAD v4
16	g.88733987_88733990delinsCCTG	CA2497029918	HSALR1,PIEZO1	c.2245_2248delinsCAGG (p.Gln749=) n.269+2539_269+2542delinsCCTG
16	g.88733987_88733993delinsCCTGCTG	CA2241262279	HSALR1,PIEZO1	c.2242_2248delinsCAGCAGG (p.Gln748=) n.269+2539_269+2545delinsCCTGCTG
16	g.88733987_88734011delinsCCTGCTGCTGCTGCTGATGCTCCTG	CA2241262281	HSALR1,PIEZO1	c.2224_2248delinsCAGGAGCATCAGCAGCAGCAGCAGG (p.Gln742=) n.269+2539_269+2563delinsCCTGCTGCTGCTGCTGATGCTCCTG
16	g.88733988C>A	CA397112940	HSALR1,PIEZO1	c.2247G>T (p.Gln749His) n.269+2540C>A	gnomAD v4
16	g.88733988C=	CA2241262282	HSALR1,PIEZO1	c.2247G= (p.Gln749=) n.269+2540C=
16	g.88733988C>G	CA397112941	HSALR1,PIEZO1	c.2247G>C (p.Gln749His) n.269+2540C>G
16	g.88733988C>T	CA497366707	HSALR1,PIEZO1	c.2247G>A (p.Gln749=) n.269+2540C>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.88733989_88733990insCCTGCT	CA2634881241	HSALR1,PIEZO1	c.2247_2248insCAGGAG (p.Gln749_Glu750insGlnGlu) n.269+2541_269+2542insCCTGCT	gnomAD v4
16	g.88734000_88734002dup	CA8232833	HSALR1,PIEZO1	c.2245_2247dup (p.Gln749_Glu750insGln) n.269+2552_269+2554dup	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.88734000_88734002del	CA8232831	HSALR1,PIEZO1	c.2245_2247del (p.Gln749del) n.269+2552_269+2554del	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16	g.88733997_88734002del	CA919766386	HSALR1,PIEZO1	c.2242_2247del (p.Gln748_Gln749del) n.269+2549_269+2554del	dbSNP gnomAD v4
16	g.88733990_88734007del	CA2576093175	HSALR1,PIEZO1	c.2230_2247del (p.His744_Gln749del) n.269+2542_269+2559del	dbSNP
16	g.88733993_88734016del	CA2241262283	HSALR1,PIEZO1	c.2224_2247del (p.Gln742_Gln749del) n.269+2545_269+2568del	dbSNP
16	g.88733989T>A	CA397112942	HSALR1,PIEZO1	c.2246A>T (p.Gln749Leu) n.269+2541T>A
16	g.88733989T>C	CA397112943	HSALR1,PIEZO1	c.2246A>G (p.Gln749Arg) n.269+2541T>C
16	g.88733989T>G	CA397112945	HSALR1,PIEZO1	c.2246A>C (p.Gln749Pro) n.269+2541T>G
16	g.88733989_88733990delinsTG	CA2241262284	HSALR1,PIEZO1	c.2245_2246delinsCA (p.Gln749=) n.269+2541_269+2542delinsTG
16	g.88733989_88733991delinsTGC	CA2241262285	HSALR1,PIEZO1	c.2244_2246delinsGCA (p.Gln748=) n.269+2541_269+2543delinsTGC
16	g.88733990del	CA8232834	HSALR1,PIEZO1	c.2245del (p.Gln749ArgfsTer?) n.269+2542del	dbSNP ExAC gnomAD v3 gnomAD v4
16	g.88733990G>A	CA397112948	HSALR1,PIEZO1	c.2245C>T (p.Gln749Ter) n.269+2542G>A	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.88733990G>C	CA8232835	HSALR1,PIEZO1	c.2245C>G (p.Gln749Glu) n.269+2542G>C	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.88733990G=	CA2241262286	HSALR1,PIEZO1	c.2245C= (p.Gln749=) n.269+2542G=
16	g.88733990G>T	CA397112949	HSALR1,PIEZO1	c.2245C>A (p.Gln749Lys) n.269+2542G>T	gnomAD v4
16	g.88733990_88733991del	CA624449499	HSALR1,PIEZO1	c.2244_2245del (p.Gln749GlyfsTer27) n.269+2542_269+2543del	dbSNP gnomAD v2 gnomAD v4
16	g.88733991C>A	CA397112951	HSALR1,PIEZO1	c.2244G>T (p.Gln748His) n.269+2543C>A	gnomAD v4
16	g.88733991C>G	CA397112952	HSALR1,PIEZO1	c.2244G>C (p.Gln748His) n.269+2543C>G
16	g.88733991C>T	CA497366708	HSALR1,PIEZO1	c.2244G>A (p.Gln748=) n.269+2543C>T	gnomAD v4
16	g.88733991_88733993delinsCTG	CA2241262287	HSALR1,PIEZO1	c.2242_2244delinsCAG (p.Gln748=) n.269+2543_269+2545delinsCTG
16	g.88733999_88734016dup	CA2634881242	HSALR1,PIEZO1	c.2227_2244dup (p.Gln748_Gln749insGluHisGlnGlnGlnGln) n.269+2551_269+2568dup	gnomAD v4
16	g.88733992T>A	CA397112953	HSALR1,PIEZO1	c.2243A>T (p.Gln748Leu) n.269+2544T>A
16	g.88733992T>C	CA397112954	HSALR1,PIEZO1	c.2243A>G (p.Gln748Arg) n.269+2544T>C	gnomAD v4
16	g.88733992T>G	CA397112957	HSALR1,PIEZO1	c.2243A>C (p.Gln748Pro) n.269+2544T>G
16	g.88733992_88733993del	CA980334466	HSALR1,PIEZO1	c.2242_2243del (p.Gln748AlafsTer28) n.269+2544_269+2545del	dbSNP gnomAD v3 gnomAD v4
16	g.88733993del	CA2634881243	HSALR1,PIEZO1	c.2242del (p.Gln748SerfsTer?) n.269+2545del	gnomAD v4
16	g.88733993G>A	CA397112958	HSALR1,PIEZO1	c.2242C>T (p.Gln748Ter) n.269+2545G>A	gnomAD v4
16	g.88733993G>C	CA397112960	HSALR1,PIEZO1	c.2242C>G (p.Gln748Glu) n.269+2545G>C	dbSNP gnomAD v4
16	g.88733993G=	CA2241262289	HSALR1,PIEZO1	c.2242C= (p.Gln748=) n.269+2545G=
16	g.88733993G>T	CA397112961	HSALR1,PIEZO1	c.2242C>A (p.Gln748Lys) n.269+2545G>T	gnomAD v4
16	g.88733993_88734008delinsGCTGCTGCTGATGCTC	CA2241262288	HSALR1,PIEZO1	c.2227_2242delinsGAGCATCAGCAGCAGC (p.Glu743=) n.269+2545_269+2560delinsGCTGCTGCTGATGCTC
16	g.88733994C>A	CA397112962	HSALR1,PIEZO1	c.2241G>T (p.Gln747His) n.269+2546C>A	gnomAD v4
16	g.88733994C>G	CA397112963	HSALR1,PIEZO1	c.2241G>C (p.Gln747His) n.269+2546C>G
16	g.88733994C>T	CA497366709	HSALR1,PIEZO1	c.2241G>A (p.Gln747=) n.269+2546C>T
16	g.88734002_88734016del	CA286423382	HSALR1,PIEZO1	c.2227_2241del (p.Glu743_Gln747del) n.269+2554_269+2568del	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.88733995T>A	CA397112966	HSALR1,PIEZO1	c.2240A>T (p.Gln747Leu) n.269+2547T>A
16	g.88733995T>C	CA397112967	HSALR1,PIEZO1	c.2240A>G (p.Gln747Arg) n.269+2547T>C
16	g.88733995T>G	CA397112968	HSALR1,PIEZO1	c.2240A>C (p.Gln747Pro) n.269+2547T>G
16	g.88733996G>A	CA397112974	HSALR1,PIEZO1	c.2239C>T (p.Gln747Ter) n.269+2548G>A	gnomAD v4
16	g.88733996G>C	CA397112973	HSALR1,PIEZO1	c.2239C>G (p.Gln747Glu) n.269+2548G>C
16	g.88733996G>T	CA397112970	HSALR1,PIEZO1	c.2239C>A (p.Gln747Lys) n.269+2548G>T	gnomAD v4
16	g.88733997C>A	CA397112976	HSALR1,PIEZO1	c.2238G>T (p.Gln746His) n.269+2549C>A	gnomAD v4
16	g.88733997C>G	CA397112977	HSALR1,PIEZO1	c.2238G>C (p.Gln746His) n.269+2549C>G
16	g.88733997C>T	CA497366710	HSALR1,PIEZO1	c.2238G>A (p.Gln746=) n.269+2549C>T
16	g.88734003_88734014dup	CA2634881244	HSALR1,PIEZO1	c.2227_2238dup (p.Gln746_Gln747insGluHisGlnGln) n.269+2555_269+2566dup	gnomAD v4
16	g.88733998T>A	CA397112979	HSALR1,PIEZO1	c.2237A>T (p.Gln746Leu) n.269+2550T>A
16	g.88733998T>C	CA397112981	HSALR1,PIEZO1	c.2237A>G (p.Gln746Arg) n.269+2550T>C	gnomAD v4
16	g.88733998T>G	CA397112983	HSALR1,PIEZO1	c.2237A>C (p.Gln746Pro) n.269+2550T>G
16	g.88733998_88733999del	CA497366711	HSALR1,PIEZO1	c.2236_2237del (p.Gln746AlafsTer30) n.269+2550_269+2551del	gnomAD v4
16	g.88734002_88734007del	CA2634881245	HSALR1,PIEZO1	c.2232_2237del (p.His744_Gln745del) n.269+2554_269+2559del	gnomAD v4
16	g.88733999G>A	CA397112985	HSALR1,PIEZO1	c.2236C>T (p.Gln746Ter) n.269+2551G>A	gnomAD v4
16	g.88733999G>C	CA397112988	HSALR1,PIEZO1	c.2236C>G (p.Gln746Glu) n.269+2551G>C
16	g.88733999G=	CA2241262290	HSALR1,PIEZO1	c.2236C= (p.Gln746=) n.269+2551G=
16	g.88733999G>T	CA397112990	HSALR1,PIEZO1	c.2236C>A (p.Gln746Lys) n.269+2551G>T	dbSNP gnomAD v2 gnomAD v4
16	g.88734000C>A	CA286423389	HSALR1,PIEZO1	c.2235G>T (p.Gln745His) n.269+2552C>A	dbSNP gnomAD v4
16	g.88734000C=	CA2241262291	HSALR1,PIEZO1	c.2235G= (p.Gln745=) n.269+2552C=
16	g.88734000C>G	CA397112992	HSALR1,PIEZO1	c.2235G>C (p.Gln745His) n.269+2552C>G
16	g.88734000C>T	CA497366712	HSALR1,PIEZO1	c.2235G>A (p.Gln745=) n.269+2552C>T
16	g.88734000_88734003delinsCTGA	CA2241262292	HSALR1,PIEZO1	c.2232_2235delinsTCAG (p.His744=) n.269+2552_269+2555delinsCTGA

Number of alleles fetched