Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.88733933del | CA2634881232 | HSALR1,PIEZO1 | c.2305del (p.His769ThrfsTer?) n.269+2485del | 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 | |
16 | g.88734001del | CA497366713 | HSALR1,PIEZO1 | c.2234del (p.Gln745ArgfsTer?) n.269+2553del | gnomAD v4 |
16 | g.88734001T>A | CA397112993 | HSALR1,PIEZO1 | c.2234A>T (p.Gln745Leu) n.269+2553T>A | |
16 | g.88734001T>C | CA397112994 | HSALR1,PIEZO1 | c.2234A>G (p.Gln745Arg) n.269+2553T>C | dbSNP gnomAD v4 |
16 | g.88734001T>G | CA397112996 | HSALR1,PIEZO1 | c.2234A>C (p.Gln745Pro) n.269+2553T>G | gnomAD v4 |
16 | g.88734001T= | CA2241262293 | HSALR1,PIEZO1 | c.2234A= (p.Gln745=) n.269+2553T= | |
16 | g.88734003_88734005del | CA624449500 | HSALR1,PIEZO1 | c.2232_2234del (p.His744del) n.269+2555_269+2557del | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88734002G>A | CA286423392 | HSALR1,PIEZO1 | c.2233C>T (p.Gln745Ter) n.269+2554G>A | dbSNP gnomAD v4 |
16 | g.88734002G>C | CA286423398 | HSALR1,PIEZO1 | c.2233C>G (p.Gln745Glu) n.269+2554G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.88734002G= | CA2241262294 | HSALR1,PIEZO1 | c.2233C= (p.Gln745=) n.269+2554G= | |
16 | g.88734002G>T | CA397112998 | HSALR1,PIEZO1 | c.2233C>A (p.Gln745Lys) n.269+2554G>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88734003A= | CA2241262295 | HSALR1,PIEZO1 | c.2232T= (p.His744=) n.269+2555A= | |
16 | g.88734003A>C | CA8232836 | HSALR1,PIEZO1 | c.2232T>G (p.His744Gln) n.269+2555A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88734003A>G | CA497366714 | HSALR1,PIEZO1 | c.2232T>C (p.His744=) n.269+2555A>G | |
16 | g.88734003A>T | CA397113005 | HSALR1,PIEZO1 | c.2232T>A (p.His744Gln) n.269+2555A>T | gnomAD v4 |
16 | g.88734003_88734012delinsATGCTCCTGC | CA2241262296 | HSALR1,PIEZO1 | c.2223_2232delinsGCAGGAGCAT (p.Gln741=) n.269+2555_269+2564delinsATGCTCCTGC | |
16 | g.88734004T>A | CA397113007 | HSALR1,PIEZO1 | c.2231A>T (p.His744Leu) n.269+2556T>A | |
16 | g.88734004T>C | CA397113009 | HSALR1,PIEZO1 | c.2231A>G (p.His744Arg) n.269+2556T>C | |
16 | g.88734004T>G | CA397113010 | HSALR1,PIEZO1 | c.2231A>C (p.His744Pro) n.269+2556T>G | |
16 | g.88734008_88734013dup | CA2634881246 | HSALR1,PIEZO1 | c.2226_2231dup (p.Glu743_His744insGlnGlu) n.269+2560_269+2565dup | gnomAD v4 |
16 | g.88734011_88734019dup | CA2634881247 | HSALR1,PIEZO1 | c.2223_2231dup (p.Glu743_His744insGlnGlnGlu) n.269+2563_269+2571dup | gnomAD v4 |
16 | g.88734011_88734019del | CA980334474 | HSALR1,PIEZO1 | c.2223_2231del (p.Gln741_Glu743del) n.269+2563_269+2571del | dbSNP gnomAD v3 gnomAD v4 |
16 | g.88734005G>A | CA397113016 | HSALR1,PIEZO1 | c.2230C>T (p.His744Tyr) n.269+2557G>A | gnomAD v4 |
16 | g.88734005G>C | CA397113012 | HSALR1,PIEZO1 | c.2230C>G (p.His744Asp) n.269+2557G>C | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88734005G= | CA2241262297 | HSALR1,PIEZO1 | c.2230C= (p.His744=) n.269+2557G= | |
16 | g.88734005G>T | CA397113014 | HSALR1,PIEZO1 | c.2230C>A (p.His744Asn) n.269+2557G>T | gnomAD v4 |
16 | g.88734006C>A | CA397113018 | HSALR1,PIEZO1 | c.2229G>T (p.Glu743Asp) n.269+2558C>A | gnomAD v4 |
16 | g.88734006C>G | CA397113020 | HSALR1,PIEZO1 | c.2229G>C (p.Glu743Asp) n.269+2558C>G | gnomAD v4 |
16 | g.88734006C>T | CA497366715 | HSALR1,PIEZO1 | c.2229G>A (p.Glu743=) n.269+2558C>T | gnomAD v4 |
16 | g.88734010_88734021dup | CA624449501 | HSALR1,PIEZO1 | c.2218_2229dup (p.Glu743_His744insGluGlnGlnGlu) n.269+2562_269+2573dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88734007T>A | CA397113021 | HSALR1,PIEZO1 | c.2228A>T (p.Glu743Val) n.269+2559T>A | |
16 | g.88734007T>C | CA397113024 | HSALR1,PIEZO1 | c.2228A>G (p.Glu743Gly) n.269+2559T>C | gnomAD v4 |
16 | g.88734007T>G | CA397113025 | HSALR1,PIEZO1 | c.2228A>C (p.Glu743Ala) n.269+2559T>G | |
16 | g.88734008C>A | CA397113031 | HSALR1,PIEZO1 | c.2227G>T (p.Glu743Ter) n.269+2560C>A | |
16 | g.88734008C= | CA2241262298 | HSALR1,PIEZO1 | c.2227G= (p.Glu743=) n.269+2560C= | |
16 | g.88734008C>G | CA397113029 | HSALR1,PIEZO1 | c.2227G>C (p.Glu743Gln) n.269+2560C>G | dbSNP gnomAD v4 |
16 | g.88734008C>T | CA286423408 | HSALR1,PIEZO1 | c.2227G>A (p.Glu743Lys) n.269+2560C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88734009C>A | CA397113032 | HSALR1,PIEZO1 | c.2226G>T (p.Gln742His) n.269+2561C>A | gnomAD v4 |
16 | g.88734009C>G | CA397113033 | HSALR1,PIEZO1 | c.2226G>C (p.Gln742His) n.269+2561C>G | |
16 | g.88734009C>T | CA497366716 | HSALR1,PIEZO1 | c.2226G>A (p.Gln742=) n.269+2561C>T | |
16 | g.88734010T>A | CA397113035 | HSALR1,PIEZO1 | c.2225A>T (p.Gln742Leu) n.269+2562T>A | |
16 | g.88734010T>C | CA397113039 | HSALR1,PIEZO1 | c.2225A>G (p.Gln742Arg) n.269+2562T>C | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88734010T>G | CA397113037 | HSALR1,PIEZO1 | c.2225A>C (p.Gln742Pro) n.269+2562T>G | |
16 | g.88734010T= | CA2241262299 | HSALR1,PIEZO1 | c.2225A= (p.Gln742=) n.269+2562T= | |
16 | g.88734011G>A | CA397113043 | HSALR1,PIEZO1 | c.2224C>T (p.Gln742Ter) n.269+2563G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88734011G>C | CA8232837 | HSALR1,PIEZO1 | c.2224C>G (p.Gln742Glu) n.269+2563G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88734011G= | CA2241262301 | HSALR1,PIEZO1 | c.2224C= (p.Gln742=) n.269+2563G= | |
16 | g.88734011G>T | CA397113046 | HSALR1,PIEZO1 | c.2224C>A (p.Gln742Lys) n.269+2563G>T | gnomAD v4 |
16 | g.88734013_88734024dup | CA2241262300 | HSALR1,PIEZO1 | c.2213_2224dup (p.Gln741_Gln742insArgGluGluGln) n.269+2565_269+2576dup | dbSNP gnomAD v4 |
16 | g.88734012C>A | CA397113047 | HSALR1,PIEZO1 | c.2223G>T (p.Gln741His) n.269+2564C>A | gnomAD v4 |
16 | g.88734012C>G | CA397113048 | HSALR1,PIEZO1 | c.2223G>C (p.Gln741His) n.269+2564C>G | |
16 | g.88734012C>T | CA497366717 | HSALR1,PIEZO1 | c.2223G>A (p.Gln741=) n.269+2564C>T | gnomAD v4 |
16 | g.88734013T>A | CA397113050 | HSALR1,PIEZO1 | c.2222A>T (p.Gln741Leu) n.269+2565T>A | |
16 | g.88734013T>C | CA397113051 | HSALR1,PIEZO1 | c.2222A>G (p.Gln741Arg) n.269+2565T>C | |
16 | g.88734013T>G | CA397113053 | HSALR1,PIEZO1 | c.2222A>C (p.Gln741Pro) n.269+2565T>G | gnomAD v4 |
16 | g.88734014G>A | CA397113056 | HSALR1,PIEZO1 | c.2221C>T (p.Gln741Ter) n.269+2566G>A | gnomAD v4 |
16 | g.88734014G>C | CA397113058 | HSALR1,PIEZO1 | c.2221C>G (p.Gln741Glu) n.269+2566G>C | |
16 | g.88734014G>T | CA397113059 | HSALR1,PIEZO1 | c.2221C>A (p.Gln741Lys) n.269+2566G>T | gnomAD v4 |
16 | g.88734015C>A | CA397113060 | HSALR1,PIEZO1 | c.2220G>T (p.Glu740Asp) n.269+2567C>A | gnomAD v4 |
16 | g.88734015C= | CA2241262302 | HSALR1,PIEZO1 | c.2220G= (p.Glu740=) n.269+2567C= | |
16 | g.88734015C>G | CA397113062 | HSALR1,PIEZO1 | c.2220G>C (p.Glu740Asp) n.269+2567C>G | gnomAD v4 |
16 | g.88734015C>T | CA497366718 | HSALR1,PIEZO1 | c.2220G>A (p.Glu740=) n.269+2567C>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.88734016T>A | CA397113067 | HSALR1,PIEZO1 | c.2219A>T (p.Glu740Val) n.269+2568T>A | |
16 | g.88734016T>C | CA397113065 | HSALR1,PIEZO1 | c.2219A>G (p.Glu740Gly) n.269+2568T>C | gnomAD v4 |
16 | g.88734016T>G | CA286423421 | HSALR1,PIEZO1 | c.2219A>C (p.Glu740Ala) n.269+2568T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88734016T= | CA2241262303 | HSALR1,PIEZO1 | c.2219A= (p.Glu740=) n.269+2568T= | |
16 | g.88734017C>A | CA397113069 | HSALR1,PIEZO1 | c.2218G>T (p.Glu740Ter) n.269+2569C>A | gnomAD v4 |
16 | g.88734017C>G | CA397113070 | HSALR1,PIEZO1 | c.2218G>C (p.Glu740Gln) n.269+2569C>G | gnomAD v4 |
16 | g.88734017C>T | CA397113072 | HSALR1,PIEZO1 | c.2218G>A (p.Glu740Lys) n.269+2569C>T | |
16 | g.88734018C>A | CA397113073 | HSALR1,PIEZO1 | c.2217G>T (p.Glu739Asp) n.269+2570C>A | gnomAD v4 |
16 | g.88734018C>G | CA397113074 | HSALR1,PIEZO1 | c.2217G>C (p.Glu739Asp) n.269+2570C>G | |
16 | g.88734018C>T | CA497366719 | HSALR1,PIEZO1 | c.2217G>A (p.Glu739=) n.269+2570C>T | |
16 | g.88734019T>A | CA397113076 | HSALR1,PIEZO1 | c.2216A>T (p.Glu739Val) n.269+2571T>A | |
16 | g.88734019T>C | CA397113078 | HSALR1,PIEZO1 | c.2216A>G (p.Glu739Gly) n.269+2571T>C | |
16 | g.88734019T>G | CA397113079 | HSALR1,PIEZO1 | c.2216A>C (p.Glu739Ala) n.269+2571T>G | |
16 | g.88734020C>A | CA397113081 | HSALR1,PIEZO1 | c.2215G>T (p.Glu739Ter) n.269+2572C>A | gnomAD v4 |
16 | g.88734020C= | CA2241262304 | HSALR1,PIEZO1 | c.2215G= (p.Glu739=) n.269+2572C= | |
16 | g.88734020C>G | CA8232838 | HSALR1,PIEZO1 | c.2215G>C (p.Glu739Gln) n.269+2572C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.88734020C>T | CA397113083 | HSALR1,PIEZO1 | c.2215G>A (p.Glu739Lys) n.269+2572C>T | gnomAD v4 |
16 | g.88734021C>A | CA497366720 | HSALR1,PIEZO1 | c.2214G>T (p.Arg738=) n.269+2573C>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88734021C= | CA2241262305 | HSALR1,PIEZO1 | c.2214G= (p.Arg738=) n.269+2573C= | |
16 | g.88734021C>G | CA497366721 | HSALR1,PIEZO1 | c.2214G>C (p.Arg738=) n.269+2573C>G | gnomAD v4 |
16 | g.88734021C>T | CA497366722 | HSALR1,PIEZO1 | c.2214G>A (p.Arg738=) n.269+2573C>T | |
16 | g.88734022C>A | CA397113086 | HSALR1,PIEZO1 | c.2213G>T (p.Arg738Leu) n.269+2574C>A | gnomAD v4 |
16 | g.88734022C= | CA2241262306 | HSALR1,PIEZO1 | c.2213G= (p.Arg738=) n.269+2574C= | |
16 | g.88734022C>G | CA8232840 | HSALR1,PIEZO1 | c.2213G>C (p.Arg738Pro) n.269+2574C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88734022C>T | CA8232839 | HSALR1,PIEZO1 | c.2213G>A (p.Arg738Gln) n.269+2574C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88734023G>A | CA8232841 | HSALR1,PIEZO1 | c.2212C>T (p.Arg738Trp) n.269+2575G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88734023G>C | CA397113088 | HSALR1,PIEZO1 | c.2212C>G (p.Arg738Gly) n.269+2575G>C | gnomAD v4 |
16 | g.88734023G= | CA2241262307 | HSALR1,PIEZO1 | c.2212C= (p.Arg738=) n.269+2575G= | |
16 | g.88734023G>T | CA497366723 | HSALR1,PIEZO1 | c.2212C>A (p.Arg738=) n.269+2575G>T | |
16 | g.88734024C>A | CA497366724 | HSALR1,PIEZO1 | c.2211G>T (p.Leu737=) n.269+2576C>A | gnomAD v4 |
16 | g.88734024C>G | CA497366725 | HSALR1,PIEZO1 | c.2211G>C (p.Leu737=) n.269+2576C>G | gnomAD v4 |
16 | g.88734024C>T | CA497366726 | HSALR1,PIEZO1 | c.2211G>A (p.Leu737=) n.269+2576C>T | gnomAD v4 |
16 | g.88734025A>C | CA397113090 | HSALR1,PIEZO1 | c.2210T>G (p.Leu737Arg) n.269+2577A>C | |
16 | g.88734025A>G | CA397113091 | HSALR1,PIEZO1 | c.2210T>C (p.Leu737Pro) n.269+2577A>G | gnomAD v4 |
16 | g.88734025A>T | CA397113093 | HSALR1,PIEZO1 | c.2210T>A (p.Leu737Gln) n.269+2577A>T | |
16 | g.88734026G>A | CA497366727 | HSALR1,PIEZO1 | c.2209C>T (p.Leu737=) n.269+2578G>A | dbSNP gnomAD v4 |
16 | g.88734026G>C | CA397113095 | HSALR1,PIEZO1 | c.2209C>G (p.Leu737Val) n.269+2578G>C | |
16 | g.88734026G= | CA2241262308 | HSALR1,PIEZO1 | c.2209C= (p.Leu737=) n.269+2578G= | |
16 | g.88734026G>T | CA286423429 | HSALR1,PIEZO1 | c.2209C>A (p.Leu737Met) n.269+2578G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88734027_88734032del | CA2634881248 | HSALR1,PIEZO1 | c.2204_2209del (p.Pro735_Leu736del) n.269+2579_269+2584del | gnomAD v4 |
16 | g.88734027C>A | CA497366728 | HSALR1,PIEZO1 | c.2208G>T (p.Leu736=) n.269+2579C>A | gnomAD v4 |
16 | g.88734027C= | CA2241262309 | HSALR1,PIEZO1 | c.2208G= (p.Leu736=) n.269+2579C= | |
16 | g.88734027C>G | CA497366729 | HSALR1,PIEZO1 | c.2208G>C (p.Leu736=) n.269+2579C>G | |
16 | g.88734027C>T | CA497366730 | HSALR1,PIEZO1 | c.2208G>A (p.Leu736=) n.269+2579C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88734028A= | CA2241262310 | HSALR1,PIEZO1 | c.2207T= (p.Leu736=) n.269+2580A= | |
16 | g.88734028A>C | CA397113098 | HSALR1,PIEZO1 | c.2207T>G (p.Leu736Arg) n.269+2580A>C | |
16 | g.88734028A>G | CA286423430 | HSALR1,PIEZO1 | c.2207T>C (p.Leu736Pro) n.269+2580A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88734028A>T | CA397113103 | HSALR1,PIEZO1 | c.2207T>A (p.Leu736Gln) n.269+2580A>T | |
16 | g.88734029G>A | CA497366731 | HSALR1,PIEZO1 | c.2206C>T (p.Leu736=) n.269+2581G>A | gnomAD v4 |
16 | g.88734029G>C | CA397113105 | HSALR1,PIEZO1 | c.2206C>G (p.Leu736Val) n.269+2581G>C | |
16 | g.88734029G>T | CA397113123 | HSALR1,PIEZO1 | c.2206C>A (p.Leu736Met) n.269+2581G>T | |
16 | g.88734030T>A | CA497366734 | HSALR1,PIEZO1 | c.2205A>T (p.Pro735=) n.269+2582T>A | gnomAD v4 |
16 | g.88734030T>C | CA497366733 | HSALR1,PIEZO1 | c.2205A>G (p.Pro735=) n.269+2582T>C | |
16 | g.88734030T>G | CA497366732 | HSALR1,PIEZO1 | c.2205A>C (p.Pro735=) n.269+2582T>G | |
16 | g.88734031G>A | CA397113132 | HSALR1,PIEZO1 | c.2204C>T (p.Pro735Leu) n.269+2583G>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.88734031G>C | CA397113134 | HSALR1,PIEZO1 | c.2204C>G (p.Pro735Arg) n.269+2583G>C | |
16 | g.88734031G= | CA2241262311 | HSALR1,PIEZO1 | c.2204C= (p.Pro735=) n.269+2583G= | |
16 | g.88734031G>T | CA397113129 | HSALR1,PIEZO1 | c.2204C>A (p.Pro735Gln) n.269+2583G>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88734032G>A | CA397113139 | HSALR1,PIEZO1 | c.2203C>T (p.Pro735Ser) n.269+2584G>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88734032G>C | CA397113140 | HSALR1,PIEZO1 | c.2203C>G (p.Pro735Ala) n.269+2584G>C | gnomAD v4 |
16 | g.88734032G= | CA2241262312 | HSALR1,PIEZO1 | c.2203C= (p.Pro735=) n.269+2584G= | |
16 | g.88734032G>T | CA397113141 | HSALR1,PIEZO1 | c.2203C>A (p.Pro735Thr) n.269+2584G>T | dbSNP gnomAD v4 |