Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.88733934A>CCA497366624HSALR1,PIEZO1c.2301T>G (p.Thr767=)
n.269+2486A>C
dbSNP
16g.88733934A>GCA497366625HSALR1,PIEZO1c.2301T>C (p.Thr767=)
n.269+2486A>G
gnomAD v4
16g.88733934A>TCA497366626HSALR1,PIEZO1c.2301T>A (p.Thr767=)
n.269+2486A>T
16g.88733935G>ACA8232812HSALR1,PIEZO1c.2300C>T (p.Thr767Ile)
n.269+2487G>A
dbSNP ExAC gnomAD v2 gnomAD v4
16g.88733935G>CCA397112653HSALR1,PIEZO1c.2300C>G (p.Thr767Ser)
n.269+2487G>C
16g.88733935G=CA2241262232HSALR1,PIEZO1c.2300C= (p.Thr767=)
n.269+2487G=
16g.88733935G>TCA397112654HSALR1,PIEZO1c.2300C>A (p.Thr767Asn)
n.269+2487G>T
gnomAD v4
16g.88733936T>ACA397112655HSALR1,PIEZO1c.2299A>T (p.Thr767Ser)
n.269+2488T>A
16g.88733936T>CCA397112656HSALR1,PIEZO1c.2299A>G (p.Thr767Ala)
n.269+2488T>C
16g.88733936T>GCA397112658HSALR1,PIEZO1c.2299A>C (p.Thr767Pro)
n.269+2488T>G
dbSNP
16g.88733936T=CA2241262233HSALR1,PIEZO1c.2299A= (p.Thr767=)
n.269+2488T=
16g.88733937G>ACA286423123HSALR1,PIEZO1c.2298C>T (p.Ala766=)
n.269+2489G>A
dbSNP gnomAD v3 gnomAD v4
16g.88733937G>CCA497366631HSALR1,PIEZO1c.2298C>G (p.Ala766=)
n.269+2489G>C
dbSNP gnomAD v3 gnomAD v4
16g.88733937G=CA2241262234HSALR1,PIEZO1c.2298C= (p.Ala766=)
n.269+2489G=
16g.88733937G>TCA497366632HSALR1,PIEZO1c.2298C>A (p.Ala766=)
n.269+2489G>T
gnomAD v4
16g.88733938G>ACA286423126HSALR1,PIEZO1c.2297C>T (p.Ala766Val)
n.269+2490G>A
dbSNP gnomAD v4 COSMIC
16g.88733938G>CCA397112661HSALR1,PIEZO1c.2297C>G (p.Ala766Gly)
n.269+2490G>C
16g.88733938G=CA2241262235HSALR1,PIEZO1c.2297C= (p.Ala766=)
n.269+2490G=
16g.88733938G>TCA397112662HSALR1,PIEZO1c.2297C>A (p.Ala766Asp)
n.269+2490G>T
gnomAD v4
16g.88733939C>ACA397112666HSALR1,PIEZO1c.2296G>T (p.Ala766Ser)
n.269+2491C>A
gnomAD v4
16g.88733939C=CA2241262236HSALR1,PIEZO1c.2296G= (p.Ala766=)
n.269+2491C=
16g.88733939C>GCA397112664HSALR1,PIEZO1c.2296G>C (p.Ala766Pro)
n.269+2491C>G
gnomAD v4
16g.88733939C>TCA397112663HSALR1,PIEZO1c.2296G>A (p.Ala766Thr)
n.269+2491C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88733940C>ACA497366633HSALR1,PIEZO1c.2295G>T (p.Val765=)
n.269+2492C>A
gnomAD v4
16g.88733940C=CA2241262237HSALR1,PIEZO1c.2295G= (p.Val765=)
n.269+2492C=
16g.88733940C>GCA497366634HSALR1,PIEZO1c.2295G>C (p.Val765=)
n.269+2492C>G
16g.88733940C>TCA286423130HSALR1,PIEZO1c.2295G>A (p.Val765=)
n.269+2492C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88733941A=CA2241262238HSALR1,PIEZO1c.2294T= (p.Val765=)
n.269+2493A=
16g.88733941A>CCA397112671HSALR1,PIEZO1c.2294T>G (p.Val765Gly)
n.269+2493A>C
dbSNP gnomAD v4
16g.88733941A>GCA397112668HSALR1,PIEZO1c.2294T>C (p.Val765Ala)
n.269+2493A>G
16g.88733941A>TCA397112669HSALR1,PIEZO1c.2294T>A (p.Val765Glu)
n.269+2493A>T
16g.88733942C>ACA397112672HSALR1,PIEZO1c.2293G>T (p.Val765Leu)
n.269+2494C>A
dbSNP gnomAD v2 gnomAD v4
16g.88733942C=CA2241262239HSALR1,PIEZO1c.2293G= (p.Val765=)
n.269+2494C=
16g.88733942C>GCA397112674HSALR1,PIEZO1c.2293G>C (p.Val765Leu)
n.269+2494C>G
ClinVar gnomAD v4
16g.88733942C>TCA8232813HSALR1,PIEZO1c.2293G>A (p.Val765Met)
n.269+2494C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.88733943G>ACA8232814HSALR1,PIEZO1c.2292C>T (p.Gly764=)
n.269+2495G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.88733943G>CCA497366639HSALR1,PIEZO1c.2292C>G (p.Gly764=)
n.269+2495G>C
gnomAD v4
16g.88733943G=CA2241262240HSALR1,PIEZO1c.2292C= (p.Gly764=)
n.269+2495G=
16g.88733943G>TCA497366637HSALR1,PIEZO1c.2292C>A (p.Gly764=)
n.269+2495G>T
gnomAD v4
16g.88733944C>ACA397112677HSALR1,PIEZO1c.2291G>T (p.Gly764Val)
n.269+2496C>A
gnomAD v4
16g.88733944C=CA2241262241HSALR1,PIEZO1c.2291G= (p.Gly764=)
n.269+2496C=
16g.88733944C>GCA397112678HSALR1,PIEZO1c.2291G>C (p.Gly764Ala)
n.269+2496C>G
16g.88733944C>TCA8232815HSALR1,PIEZO1c.2291G>A (p.Gly764Asp)
n.269+2496C>T
dbSNP ExAC gnomAD v2 gnomAD v4
16g.88733945C>ACA397112679HSALR1,PIEZO1c.2290G>T (p.Gly764Cys)
n.269+2497C>A
16g.88733945C=CA2241262242HSALR1,PIEZO1c.2290G= (p.Gly764=)
n.269+2497C=
16g.88733945C>GCA397112681HSALR1,PIEZO1c.2290G>C (p.Gly764Arg)
n.269+2497C>G
16g.88733945C>TCA397112682HSALR1,PIEZO1c.2290G>A (p.Gly764Ser)
n.269+2497C>T
dbSNP gnomAD v4
16g.88733946C>ACA497366641HSALR1,PIEZO1c.2289G>T (p.Leu763=)
n.269+2498C>A
gnomAD v4
16g.88733946C>GCA497366642HSALR1,PIEZO1c.2289G>C (p.Leu763=)
n.269+2498C>G
16g.88733946C>TCA497366643HSALR1,PIEZO1c.2289G>A (p.Leu763=)
n.269+2498C>T
gnomAD v4
16g.88733947A>CCA397112683HSALR1,PIEZO1c.2288T>G (p.Leu763Arg)
n.269+2499A>C
16g.88733947A>GCA397112686HSALR1,PIEZO1c.2288T>C (p.Leu763Pro)
n.269+2499A>G
gnomAD v4
16g.88733947A>TCA397112685HSALR1,PIEZO1c.2288T>A (p.Leu763Gln)
n.269+2499A>T
16g.88733948G>ACA497366670HSALR1,PIEZO1c.2287C>T (p.Leu763=)
n.269+2500G>A
dbSNP gnomAD v4
16g.88733948G>CCA397112787HSALR1,PIEZO1c.2287C>G (p.Leu763Val)
n.269+2500G>C
16g.88733948G=CA2241262243HSALR1,PIEZO1c.2287C= (p.Leu763=)
n.269+2500G=
16g.88733948G>TCA397112788HSALR1,PIEZO1c.2287C>A (p.Leu763Met)
n.269+2500G>T
gnomAD v4 COSMIC
16g.88733949C>ACA497366671HSALR1,PIEZO1c.2286G>T (p.Gly762=)
n.269+2501C>A
gnomAD v4
16g.88733949C=CA2241262244HSALR1,PIEZO1c.2286G= (p.Gly762=)
n.269+2501C=
16g.88733949C>GCA497366673HSALR1,PIEZO1c.2286G>C (p.Gly762=)
n.269+2501C>G
dbSNP gnomAD v3 gnomAD v4
16g.88733949C>TCA497366674HSALR1,PIEZO1c.2286G>A (p.Gly762=)
n.269+2501C>T
dbSNP gnomAD v4
16g.88733950C>ACA397112789HSALR1,PIEZO1c.2285G>T (p.Gly762Val)
n.269+2502C>A
16g.88733950C=CA2241262245HSALR1,PIEZO1c.2285G= (p.Gly762=)
n.269+2502C=
16g.88733950C>GCA397112791HSALR1,PIEZO1c.2285G>C (p.Gly762Ala)
n.269+2502C>G
16g.88733950C>TCA8232816HSALR1,PIEZO1c.2285G>A (p.Gly762Glu)
n.269+2502C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.88733951C>ACA286423158HSALR1,PIEZO1c.2284G>T (p.Gly762Trp)
n.269+2503C>A
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.88733951C=CA2241262246HSALR1,PIEZO1c.2284G= (p.Gly762=)
n.269+2503C=
16g.88733951C>GCA397112793HSALR1,PIEZO1c.2284G>C (p.Gly762Arg)
n.269+2503C>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88733951C>TCA397112794HSALR1,PIEZO1c.2284G>A (p.Gly762Arg)
n.269+2503C>T
dbSNP gnomAD v3 gnomAD v4
16g.88733952C>ACA397112795HSALR1,PIEZO1c.2283G>T (p.Glu761Asp)
n.269+2504C>A
gnomAD v4
16g.88733952C=CA2241262247HSALR1,PIEZO1c.2283G= (p.Glu761=)
n.269+2504C=
16g.88733952C>GCA397112797HSALR1,PIEZO1c.2283G>C (p.Glu761Asp)
n.269+2504C>G
gnomAD v4
16g.88733952C>TCA286423162HSALR1,PIEZO1c.2283G>A (p.Glu761=)
n.269+2504C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88733953T>ACA397112801HSALR1,PIEZO1c.2282A>T (p.Glu761Val)
n.269+2505T>A
gnomAD v4
16g.88733953T>CCA397112800HSALR1,PIEZO1c.2282A>G (p.Glu761Gly)
n.269+2505T>C
dbSNP gnomAD v4
16g.88733953T>GCA397112799HSALR1,PIEZO1c.2282A>C (p.Glu761Ala)
n.269+2505T>G
dbSNP
16g.88733953T=CA2241262248HSALR1,PIEZO1c.2282A= (p.Glu761=)
n.269+2505T=
16g.88733953_88733954insACA2634881233HSALR1,PIEZO1c.2281_2282insT (p.Glu761ValfsTer16)
n.269+2505_269+2506insA
gnomAD v4
16g.88733954C>ACA397112804HSALR1,PIEZO1c.2281G>T (p.Glu761Ter)
n.269+2506C>A
gnomAD v4
16g.88733954C=CA2241262249HSALR1,PIEZO1c.2281G= (p.Glu761=)
n.269+2506C=
16g.88733954C>GCA286423167HSALR1,PIEZO1c.2281G>C (p.Glu761Gln)
n.269+2506C>G
dbSNP gnomAD v3 gnomAD v4
16g.88733954C>TCA286423172HSALR1,PIEZO1c.2281G>A (p.Glu761Lys)
n.269+2506C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88733955G>ACA8232817HSALR1,PIEZO1c.2280C>T (p.Asp760=)
n.269+2507G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.88733955G>CCA397112806HSALR1,PIEZO1c.2280C>G (p.Asp760Glu)
n.269+2507G>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88733955G=CA2241262250HSALR1,PIEZO1c.2280C= (p.Asp760=)
n.269+2507G=
16g.88733955G>TCA397112807HSALR1,PIEZO1c.2280C>A (p.Asp760Glu)
n.269+2507G>T
gnomAD v4
16g.88733956T>ACA397112809HSALR1,PIEZO1c.2279A>T (p.Asp760Val)
n.269+2508T>A
16g.88733956T>CCA397112810HSALR1,PIEZO1c.2279A>G (p.Asp760Gly)
n.269+2508T>C
16g.88733956T>GCA397112812HSALR1,PIEZO1c.2279A>C (p.Asp760Ala)
n.269+2508T>G
16g.88733957C>ACA397112814HSALR1,PIEZO1c.2278G>T (p.Asp760Tyr)
n.269+2509C>A
gnomAD v4
16g.88733957C=CA2241262251HSALR1,PIEZO1c.2278G= (p.Asp760=)
n.269+2509C=
16g.88733957C>GCA397112816HSALR1,PIEZO1c.2278G>C (p.Asp760His)
n.269+2509C>G
16g.88733957C>TCA397112817HSALR1,PIEZO1c.2278G>A (p.Asp760Asn)
n.269+2509C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88733958C>ACA397112819HSALR1,PIEZO1c.2277G>T (p.Arg759Ser)
n.269+2510C>A
gnomAD v4
16g.88733958C>GCA397112821HSALR1,PIEZO1c.2277G>C (p.Arg759Ser)
n.269+2510C>G
16g.88733958C>TCA497366679HSALR1,PIEZO1c.2277G>A (p.Arg759=)
n.269+2510C>T
16g.88733959C>ACA397112823HSALR1,PIEZO1c.2276G>T (p.Arg759Met)
n.269+2511C>A
16g.88733959C=CA2241262252HSALR1,PIEZO1c.2276G= (p.Arg759=)
n.269+2511C=
16g.88733959C>GCA286423183HSALR1,PIEZO1c.2276G>C (p.Arg759Thr)
n.269+2511C>G
dbSNP gnomAD v4
16g.88733959C>TCA397112824HSALR1,PIEZO1c.2276G>A (p.Arg759Lys)
n.269+2511C>T
gnomAD v4
16g.88733960T>ACA397112826HSALR1,PIEZO1c.2275A>T (p.Arg759Trp)
n.269+2512T>A
gnomAD v4
16g.88733960T>CCA397112828HSALR1,PIEZO1c.2275A>G (p.Arg759Gly)
n.269+2512T>C
gnomAD v4
16g.88733960T>GCA497366680HSALR1,PIEZO1c.2275A>C (p.Arg759=)
n.269+2512T>G
16g.88733961G>ACA8232818HSALR1,PIEZO1c.2274C>T (p.Ser758=)
n.269+2513G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.88733961G>CCA286423187HSALR1,PIEZO1c.2274C>G (p.Ser758=)
n.269+2513G>C
dbSNP
16g.88733961G=CA2241262253HSALR1,PIEZO1c.2274C= (p.Ser758=)
n.269+2513G=
16g.88733961G>TCA497366683HSALR1,PIEZO1c.2274C>A (p.Ser758=)
n.269+2513G>T
16g.88733962delCA2634881235HSALR1,PIEZO1c.2274del (p.Arg759GlyfsTer?)
n.269+2514del
gnomAD v4
16g.88733961_88733975dupCA2634881234HSALR1,PIEZO1c.2260_2274dup (p.Ser758_Arg759insGluGluGluAspSer)
n.269+2513_269+2527dup
gnomAD v4
16g.88733962G>ACA397112829HSALR1,PIEZO1c.2273C>T (p.Ser758Phe)
n.269+2514G>A
16g.88733962G>CCA397112831HSALR1,PIEZO1c.2273C>G (p.Ser758Cys)
n.269+2514G>C
dbSNP
16g.88733962G=CA2241262254HSALR1,PIEZO1c.2273C= (p.Ser758=)
n.269+2514G=
16g.88733962G>TCA397112832HSALR1,PIEZO1c.2273C>A (p.Ser758Tyr)
n.269+2514G>T
gnomAD v4
16g.88733963A>CCA397112834HSALR1,PIEZO1c.2272T>G (p.Ser758Ala)
n.269+2515A>C
16g.88733963A>GCA397112835HSALR1,PIEZO1c.2272T>C (p.Ser758Pro)
n.269+2515A>G
16g.88733963A>TCA397112836HSALR1,PIEZO1c.2272T>A (p.Ser758Thr)
n.269+2515A>T
gnomAD v4
16g.88733964G>ACA497366685HSALR1,PIEZO1c.2271C>T (p.Asp757=)
n.269+2516G>A
dbSNP gnomAD v4
16g.88733964G>CCA397112837HSALR1,PIEZO1c.2271C>G (p.Asp757Glu)
n.269+2516G>C
dbSNP gnomAD v3 gnomAD v4
16g.88733964G=CA2241262256HSALR1,PIEZO1c.2271C= (p.Asp757=)
n.269+2516G=
16g.88733964G>TCA397112838HSALR1,PIEZO1c.2271C>A (p.Asp757Glu)
n.269+2516G>T
gnomAD v4
16g.88733964_88733976delinsGTCCTCCTCCTCCCA2241262255HSALR1,PIEZO1c.2259_2271delinsGGAGGAGGAGGAC (p.Glu753=)
n.269+2516_269+2528delinsGTCCTCCTCCTCC
16g.88733965T>ACA397112844HSALR1,PIEZO1c.2270A>T (p.Asp757Val)
n.269+2517T>A
16g.88733965T>CCA397112841HSALR1,PIEZO1c.2270A>G (p.Asp757Gly)
n.269+2517T>C
16g.88733965T>GCA397112839HSALR1,PIEZO1c.2270A>C (p.Asp757Ala)
n.269+2517T>G
16g.88733987_88733989dupCA8232820HSALR1,PIEZO1c.2268_2270dup (p.Glu756_Asp757insGlu)
n.269+2539_269+2541dup
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.88733984_88733989dupCA8232822HSALR1,PIEZO1c.2265_2270dup (p.Glu756_Asp757insGluGlu)
n.269+2536_269+2541dup
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.88733981_88733989dupCA8232823HSALR1,PIEZO1c.2262_2270dup (p.Glu756_Asp757insGluGluGlu)
n.269+2533_269+2541dup
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.88733978_88733989dupCA2634881236HSALR1,PIEZO1c.2259_2270dup (p.Glu756_Asp757insGluGluGluGlu)
n.269+2530_269+2541dup
gnomAD v4
16g.88733975_88733989dupCA725647277HSALR1,PIEZO1c.2256_2270dup (p.Glu756_Asp757insGluGluGluGluGlu)
n.269+2527_269+2541dup
dbSNP
16g.88733987_88733989delCA8232819HSALR1,PIEZO1c.2268_2270del (p.Glu756del)
n.269+2539_269+2541del
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.88733984_88733989delCA8232821HSALR1,PIEZO1c.2265_2270del (p.Glu755_Glu756del)
n.269+2536_269+2541del
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.88733981_88733989delCA286423252HSALR1,PIEZO1c.2262_2270del (p.Glu754_Glu756del)
n.269+2533_269+2541del
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88733978_88733989delCA286423232HSALR1,PIEZO1c.2259_2270del (p.Glu753_Glu756del)
n.269+2530_269+2541del
dbSNP gnomAD v3 gnomAD v4
16g.88733975_88733989delCA2634881237HSALR1,PIEZO1c.2256_2270del (p.Glu752_Glu756del)
n.269+2527_269+2541del
gnomAD v4
16g.88733966C>ACA397112845HSALR1,PIEZO1c.2269G>T (p.Asp757Tyr)
n.269+2518C>A
gnomAD v4
16g.88733966C=CA2241262257HSALR1,PIEZO1c.2269G= (p.Asp757=)
n.269+2518C=
16g.88733966C>GCA397112846HSALR1,PIEZO1c.2269G>C (p.Asp757His)
n.269+2518C>G
16g.88733966C>TCA397112848HSALR1,PIEZO1c.2269G>A (p.Asp757Asn)
n.269+2518C>T
dbSNP gnomAD v2 gnomAD v4
16g.88733967delCA2634881238HSALR1,PIEZO1c.2269del (p.Asp757ThrfsTer?)
n.269+2519del
gnomAD v4
16g.88733967C>ACA397112849HSALR1,PIEZO1c.2268G>T (p.Glu756Asp)
n.269+2519C>A
gnomAD v4
16g.88733967C=CA2241262258HSALR1,PIEZO1c.2268G= (p.Glu756=)
n.269+2519C=
16g.88733967C>GCA397112851HSALR1,PIEZO1c.2268G>C (p.Glu756Asp)
n.269+2519C>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88733967C>TCA286423268HSALR1,PIEZO1c.2268G>A (p.Glu756=)
n.269+2519C>T
dbSNP gnomAD v3 gnomAD v4
16g.88733971_88733972insACTCCTCA2576093167HSALR1,PIEZO1c.2268_2269insTAGGAG
n.269+2523_269+2524insACTCCT
16g.88733968T>ACA397112853HSALR1,PIEZO1c.2267A>T (p.Glu756Val)
n.269+2520T>A
gnomAD v4
16g.88733968T>CCA397112854HSALR1,PIEZO1c.2267A>G (p.Glu756Gly)
n.269+2520T>C
16g.88733968T>GCA397112855HSALR1,PIEZO1c.2267A>C (p.Glu756Ala)
n.269+2520T>G
16g.88733968dupCA725647288HSALR1,PIEZO1c.2267dup (p.Asp757GlyfsTer20)
n.269+2520dup
dbSNP gnomAD v3 gnomAD v4
16g.88733969C>ACA397112858HSALR1,PIEZO1c.2266G>T (p.Glu756Ter)
n.269+2521C>A
gnomAD v4
16g.88733969C=CA2241262259HSALR1,PIEZO1c.2266G= (p.Glu756=)
n.269+2521C=
16g.88733969C>GCA397112860HSALR1,PIEZO1c.2266G>C (p.Glu756Gln)
n.269+2521C>G
dbSNP
16g.88733969C>TCA286423286HSALR1,PIEZO1c.2266G>A (p.Glu756Lys)
n.269+2521C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88733970C>ACA397112862HSALR1,PIEZO1c.2265G>T (p.Glu755Asp)
n.269+2522C>A
gnomAD v4
16g.88733970C=CA2241262261HSALR1,PIEZO1c.2265G= (p.Glu755=)
n.269+2522C=
16g.88733970C>GCA397112864HSALR1,PIEZO1c.2265G>C (p.Glu755Asp)
n.269+2522C>G
dbSNP gnomAD v3 gnomAD v4
16g.88733970C>TCA497366693HSALR1,PIEZO1c.2265G>A (p.Glu755=)
n.269+2522C>T
dbSNP gnomAD v2 gnomAD v4
16g.88733970_88733980delinsCTCCTCCTCCTCA2241262260HSALR1,PIEZO1c.2255_2265delinsAGGAGGAGGAG (p.Glu752=)
n.269+2522_269+2532delinsCTCCTCCTCCT
16g.88733971T>ACA397112869HSALR1,PIEZO1c.2264A>T (p.Glu755Val)
n.269+2523T>A
16g.88733971T>CCA397112867HSALR1,PIEZO1c.2264A>G (p.Glu755Gly)
n.269+2523T>C
16g.88733971T>GCA397112865HSALR1,PIEZO1c.2264A>C (p.Glu755Ala)
n.269+2523T>G
16g.88733971_88733980delCA8232824HSALR1,PIEZO1c.2255_2264del (p.Glu752GlyfsTer?)
n.269+2523_269+2532del
dbSNP ExAC
16g.88733972C>ACA352205HSALR1,PIEZO1c.2263G>T (p.Glu755Ter)
n.269+2524C>A
ClinVar dbSNP gnomAD v4
16g.88733972C=CA2241262262HSALR1,PIEZO1c.2263G= (p.Glu755=)
n.269+2524C=
16g.88733972C>GCA397112871HSALR1,PIEZO1c.2263G>C (p.Glu755Gln)
n.269+2524C>G
16g.88733972C>TCA397112873HSALR1,PIEZO1c.2263G>A (p.Glu755Lys)
n.269+2524C>T
dbSNP gnomAD v2 gnomAD v4
16g.88733973C>ACA397112875HSALR1,PIEZO1c.2262G>T (p.Glu754Asp)
n.269+2525C>A
dbSNP gnomAD v2 gnomAD v4
16g.88733973C=CA2241262263HSALR1,PIEZO1c.2262G= (p.Glu754=)
n.269+2525C=
16g.88733973C>GCA397112876HSALR1,PIEZO1c.2262G>C (p.Glu754Asp)
n.269+2525C>G
16g.88733973C>TCA286423316HSALR1,PIEZO1c.2262G>A (p.Glu754=)
n.269+2525C>T
dbSNP gnomAD v4
16g.88733974T>ACA397112879HSALR1,PIEZO1c.2261A>T (p.Glu754Val)
n.269+2526T>A
16g.88733974T>CCA397112877HSALR1,PIEZO1c.2261A>G (p.Glu754Gly)
n.269+2526T>C
gnomAD v4
16g.88733974T>GCA397112878HSALR1,PIEZO1c.2261A>C (p.Glu754Ala)
n.269+2526T>G
16g.88733975C>ACA397112880HSALR1,PIEZO1c.2260G>T (p.Glu754Ter)
n.269+2527C>A
16g.88733975C=CA2241262264HSALR1,PIEZO1c.2260G= (p.Glu754=)
n.269+2527C=
16g.88733975C>GCA8232825HSALR1,PIEZO1c.2260G>C (p.Glu754Gln)
n.269+2527C>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.88733975C>TCA397112882HSALR1,PIEZO1c.2260G>A (p.Glu754Lys)
n.269+2527C>T
gnomAD v4
16g.88733976C>ACA397112884HSALR1,PIEZO1c.2259G>T (p.Glu753Asp)
n.269+2528C>A
gnomAD v4
16g.88733976C=CA2241262265HSALR1,PIEZO1c.2259G= (p.Glu753=)
n.269+2528C=
16g.88733976C>GCA397112886HSALR1,PIEZO1c.2259G>C (p.Glu753Asp)
n.269+2528C>G
16g.88733976C>TCA497366695HSALR1,PIEZO1c.2259G>A (p.Glu753=)
n.269+2528C>T
dbSNP gnomAD v3 gnomAD v4
16g.88733978_88733992delCA2634881239HSALR1,PIEZO1c.2245_2259del (p.Gln749_Glu753del)
n.269+2530_269+2544del
gnomAD v4
16g.88733977T>ACA397112887HSALR1,PIEZO1c.2258A>T (p.Glu753Val)
n.269+2529T>A
16g.88733977T>CCA397112890HSALR1,PIEZO1c.2258A>G (p.Glu753Gly)
n.269+2529T>C
gnomAD v4
16g.88733977T>GCA397112888HSALR1,PIEZO1c.2258A>C (p.Glu753Ala)
n.269+2529T>G
16g.88733978C>ACA397112892HSALR1,PIEZO1c.2257G>T (p.Glu753Ter)
n.269+2530C>A
ClinVar dbSNP
16g.88733978C=CA2241262266HSALR1,PIEZO1c.2257G= (p.Glu753=)
n.269+2530C=
16g.88733978C>GCA397112894HSALR1,PIEZO1c.2257G>C (p.Glu753Gln)
n.269+2530C>G
16g.88733978C>TCA397112896HSALR1,PIEZO1c.2257G>A (p.Glu753Lys)
n.269+2530C>T
dbSNP gnomAD v4
16g.88733979C>ACA397112898HSALR1,PIEZO1c.2256G>T (p.Glu752Asp)
n.269+2531C>A
gnomAD v4
16g.88733979C=CA2241262267HSALR1,PIEZO1c.2256G= (p.Glu752=)
n.269+2531C=
16g.88733979C>GCA397112899HSALR1,PIEZO1c.2256G>C (p.Glu752Asp)
n.269+2531C>G
gnomAD v4
16g.88733979C>TCA497366698HSALR1,PIEZO1c.2256G>A (p.Glu752=)
n.269+2531C>T
dbSNP gnomAD v3 gnomAD v4
16g.88733981_88733992delCA2576093169HSALR1,PIEZO1c.2245_2256del (p.Gln749_Glu752del)
n.269+2533_269+2544del
gnomAD v4
16g.88733984_88734010delCA2634881240HSALR1,PIEZO1c.2230_2256del (p.His744_Glu752del)
n.269+2536_269+2562del
gnomAD v4
16g.88733980T>ACA397112901HSALR1,PIEZO1c.2255A>T (p.Glu752Val)
n.269+2532T>A
16g.88733980T>CCA397112903HSALR1,PIEZO1c.2255A>G (p.Glu752Gly)
n.269+2532T>C
gnomAD v4
16g.88733980T>GCA397112905HSALR1,PIEZO1c.2255A>C (p.Glu752Ala)
n.269+2532T>G
16g.88733981C>ACA397112906HSALR1,PIEZO1c.2254G>T (p.Glu752Ter)
n.269+2533C>A
16g.88733981C=CA2241262270HSALR1,PIEZO1c.2254G= (p.Glu752=)
n.269+2533C=
16g.88733981C>GCA397112908HSALR1,PIEZO1c.2254G>C (p.Glu752Gln)
n.269+2533C>G
16g.88733981C>TCA397112910HSALR1,PIEZO1c.2254G>A (p.Glu752Lys)
n.269+2533C>T
dbSNP gnomAD v3 gnomAD v4
16g.88733981_88733990delinsCCTCCTCCTGCA2241262268HSALR1,PIEZO1c.2245_2254delinsCAGGAGGAGG (p.Gln749=)
n.269+2533_269+2542delinsCCTCCTCCTG
16g.88733981_88734005delinsCCTCCTCCTGCTGCTGCTGCTGATGCA2241262269HSALR1,PIEZO1c.2230_2254delinsCATCAGCAGCAGCAGCAGGAGGAGG (p.His744=)
n.269+2533_269+2557delinsCCTCCTCCTGCTGCTGCTGCTGATG
16g.88733982C>ACA397112915HSALR1,PIEZO1c.2253G>T (p.Glu751Asp)
n.269+2534C>A
gnomAD v4
16g.88733982C=CA2241262271HSALR1,PIEZO1c.2253G= (p.Glu751=)
n.269+2534C=
16g.88733982C>GCA397112913HSALR1,PIEZO1c.2253G>C (p.Glu751Asp)
n.269+2534C>G
dbSNP gnomAD v3 gnomAD v4
16g.88733982C>TCA286423327HSALR1,PIEZO1c.2253G>A (p.Glu751=)
n.269+2534C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88733984_88733992delCA8232826HSALR1,PIEZO1c.2245_2253del (p.Gln749_Glu751del)
n.269+2536_269+2544del
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.88733987_88734010delCA8232827HSALR1,PIEZO1c.2230_2253del (p.His744_Glu751del)
n.269+2539_269+2562del
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.88733983T>ACA397112917HSALR1,PIEZO1c.2252A>T (p.Glu751Val)
n.269+2535T>A
16g.88733983T>CCA397112918HSALR1,PIEZO1c.2252A>G (p.Glu751Gly)
n.269+2535T>C
16g.88733983T>GCA397112920HSALR1,PIEZO1c.2252A>C (p.Glu751Ala)
n.269+2535T>G
ClinVar
16g.88733984C>ACA397112921HSALR1,PIEZO1c.2251G>T (p.Glu751Ter)
n.269+2536C>A
gnomAD v4
16g.88733984C=CA2241262275HSALR1,PIEZO1c.2251G= (p.Glu751=)
n.269+2536C=
16g.88733984C>GCA286423333HSALR1,PIEZO1c.2251G>C (p.Glu751Gln)
n.269+2536C>G
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88733984C>TCA397112923HSALR1,PIEZO1c.2251G>A (p.Glu751Lys)
n.269+2536C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88733984_88733986delinsCCTCA2241262273HSALR1,PIEZO1c.2249_2251delinsAGG (p.Glu750=)
n.269+2536_269+2538delinsCCT
16g.88733984_88733990delinsCCTCCTGCA2241262272HSALR1,PIEZO1c.2245_2251delinsCAGGAGG (p.Gln749=)
n.269+2536_269+2542delinsCCTCCTG
16g.88733984_88734005delinsCCTCCTGCTGCTGCTGCTGATGCA2241262274HSALR1,PIEZO1c.2230_2251delinsCATCAGCAGCAGCAGCAGGAGG (p.His744=)
n.269+2536_269+2557delinsCCTCCTGCTGCTGCTGCTGATG
16g.88733985C>ACA397112924HSALR1,PIEZO1c.2250G>T (p.Glu750Asp)
n.269+2537C>A
16g.88733985C=CA2241262276HSALR1,PIEZO1c.2250G= (p.Glu750=)
n.269+2537C=
16g.88733985C>GCA397112926HSALR1,PIEZO1c.2250G>C (p.Glu750Asp)
n.269+2537C>G
gnomAD v4
16g.88733985C>TCA8232830HSALR1,PIEZO1c.2250G>A (p.Glu750=)
n.269+2537C>T
dbSNP ExAC gnomAD v2 gnomAD v4
16g.88733985_88733986delinsCTCA2241262277HSALR1,PIEZO1c.2249_2250delinsAG (p.Glu750=)
n.269+2537_269+2538delinsCT
16g.88733986_88733987delCA286423352HSALR1,PIEZO1c.2249_2250del (p.Glu750GlyfsTer26)
n.269+2538_269+2539del
dbSNP
16g.88733987_88733992delCA8232828HSALR1,PIEZO1c.2245_2250del (p.Gln749_Glu750del)
n.269+2539_269+2544del
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.88733996_88734016dupCA624449498HSALR1,PIEZO1c.2230_2250dup (p.Glu750_Glu751insHisGlnGlnGlnGlnGlnGlu)
n.269+2548_269+2568dup
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88733996_88734016delCA8232829HSALR1,PIEZO1c.2230_2250del (p.His744_Glu750del)
n.269+2548_269+2568del
dbSNP ExAC gnomAD v2 gnomAD v4
16g.88733986delCA919766384HSALR1,PIEZO1c.2249del (p.Glu750GlyfsTer?)
n.269+2538del
dbSNP
16g.88733986T>ACA397112933HSALR1,PIEZO1c.2249A>T (p.Glu750Val)
n.269+2538T>A
16g.88733986T>CCA397112934HSALR1,PIEZO1c.2249A>G (p.Glu750Gly)
n.269+2538T>C
gnomAD v4
16g.88733986T>GCA397112931HSALR1,PIEZO1c.2249A>C (p.Glu750Ala)
n.269+2538T>G
16g.88733987_88733988insTTCCA2241262278HSALR1,PIEZO1c.2249_2250insAGA (p.Glu750_Glu751insGlu)
n.269+2539_269+2540insTTC
dbSNP
16g.88733987C>ACA397112939HSALR1,PIEZO1c.2248G>T (p.Glu750Ter)
n.269+2539C>A
gnomAD v4
16g.88733987C=CA2241262280HSALR1,PIEZO1c.2248G= (p.Glu750=)
n.269+2539C=
16g.88733987C>GCA8232832HSALR1,PIEZO1c.2248G>C (p.Glu750Gln)
n.269+2539C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.88733987C>TCA397112938HSALR1,PIEZO1c.2248G>A (p.Glu750Lys)
n.269+2539C>T
dbSNP gnomAD v4
16g.88733987_88733990delinsCCTGCA2497029918HSALR1,PIEZO1c.2245_2248delinsCAGG (p.Gln749=)
n.269+2539_269+2542delinsCCTG
16g.88733987_88733993delinsCCTGCTGCA2241262279HSALR1,PIEZO1c.2242_2248delinsCAGCAGG (p.Gln748=)
n.269+2539_269+2545delinsCCTGCTG
16g.88733987_88734011delinsCCTGCTGCTGCTGCTGATGCTCCTGCA2241262281HSALR1,PIEZO1c.2224_2248delinsCAGGAGCATCAGCAGCAGCAGCAGG (p.Gln742=)
n.269+2539_269+2563delinsCCTGCTGCTGCTGCTGATGCTCCTG
16g.88733988C>ACA397112940HSALR1,PIEZO1c.2247G>T (p.Gln749His)
n.269+2540C>A
gnomAD v4
16g.88733988C=CA2241262282HSALR1,PIEZO1c.2247G= (p.Gln749=)
n.269+2540C=
16g.88733988C>GCA397112941HSALR1,PIEZO1c.2247G>C (p.Gln749His)
n.269+2540C>G
16g.88733988C>TCA497366707HSALR1,PIEZO1c.2247G>A (p.Gln749=)
n.269+2540C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88733989_88733990insCCTGCTCA2634881241HSALR1,PIEZO1c.2247_2248insCAGGAG (p.Gln749_Glu750insGlnGlu)
n.269+2541_269+2542insCCTGCT
gnomAD v4
16g.88734000_88734002dupCA8232833HSALR1,PIEZO1c.2245_2247dup (p.Gln749_Glu750insGln)
n.269+2552_269+2554dup
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.88734000_88734002delCA8232831HSALR1,PIEZO1c.2245_2247del (p.Gln749del)
n.269+2552_269+2554del
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.88733997_88734002delCA919766386HSALR1,PIEZO1c.2242_2247del (p.Gln748_Gln749del)
n.269+2549_269+2554del
dbSNP gnomAD v4
16g.88733990_88734007delCA2576093175HSALR1,PIEZO1c.2230_2247del (p.His744_Gln749del)
n.269+2542_269+2559del
dbSNP
16g.88733993_88734016delCA2241262283HSALR1,PIEZO1c.2224_2247del (p.Gln742_Gln749del)
n.269+2545_269+2568del
dbSNP
16g.88733989T>ACA397112942HSALR1,PIEZO1c.2246A>T (p.Gln749Leu)
n.269+2541T>A
16g.88733989T>CCA397112943HSALR1,PIEZO1c.2246A>G (p.Gln749Arg)
n.269+2541T>C
16g.88733989T>GCA397112945HSALR1,PIEZO1c.2246A>C (p.Gln749Pro)
n.269+2541T>G
16g.88733989_88733990delinsTGCA2241262284HSALR1,PIEZO1c.2245_2246delinsCA (p.Gln749=)
n.269+2541_269+2542delinsTG
16g.88733989_88733991delinsTGCCA2241262285HSALR1,PIEZO1c.2244_2246delinsGCA (p.Gln748=)
n.269+2541_269+2543delinsTGC
16g.88733990delCA8232834HSALR1,PIEZO1c.2245del (p.Gln749ArgfsTer?)
n.269+2542del
dbSNP ExAC gnomAD v3 gnomAD v4
16g.88733990G>ACA397112948HSALR1,PIEZO1c.2245C>T (p.Gln749Ter)
n.269+2542G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88733990G>CCA8232835HSALR1,PIEZO1c.2245C>G (p.Gln749Glu)
n.269+2542G>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.88733990G=CA2241262286HSALR1,PIEZO1c.2245C= (p.Gln749=)
n.269+2542G=
16g.88733990G>TCA397112949HSALR1,PIEZO1c.2245C>A (p.Gln749Lys)
n.269+2542G>T
gnomAD v4
16g.88733990_88733991delCA624449499HSALR1,PIEZO1c.2244_2245del (p.Gln749GlyfsTer27)
n.269+2542_269+2543del
dbSNP gnomAD v2 gnomAD v4
16g.88733991C>ACA397112951HSALR1,PIEZO1c.2244G>T (p.Gln748His)
n.269+2543C>A
gnomAD v4
16g.88733991C>GCA397112952HSALR1,PIEZO1c.2244G>C (p.Gln748His)
n.269+2543C>G
16g.88733991C>TCA497366708HSALR1,PIEZO1c.2244G>A (p.Gln748=)
n.269+2543C>T
gnomAD v4
16g.88733991_88733993delinsCTGCA2241262287HSALR1,PIEZO1c.2242_2244delinsCAG (p.Gln748=)
n.269+2543_269+2545delinsCTG
16g.88733999_88734016dupCA2634881242HSALR1,PIEZO1c.2227_2244dup (p.Gln748_Gln749insGluHisGlnGlnGlnGln)
n.269+2551_269+2568dup
gnomAD v4
16g.88733992T>ACA397112953HSALR1,PIEZO1c.2243A>T (p.Gln748Leu)
n.269+2544T>A
16g.88733992T>CCA397112954HSALR1,PIEZO1c.2243A>G (p.Gln748Arg)
n.269+2544T>C
gnomAD v4
16g.88733992T>GCA397112957HSALR1,PIEZO1c.2243A>C (p.Gln748Pro)
n.269+2544T>G
16g.88733992_88733993delCA980334466HSALR1,PIEZO1c.2242_2243del (p.Gln748AlafsTer28)
n.269+2544_269+2545del
dbSNP gnomAD v3 gnomAD v4
16g.88733993delCA2634881243HSALR1,PIEZO1c.2242del (p.Gln748SerfsTer?)
n.269+2545del
gnomAD v4
16g.88733993G>ACA397112958HSALR1,PIEZO1c.2242C>T (p.Gln748Ter)
n.269+2545G>A
gnomAD v4
16g.88733993G>CCA397112960HSALR1,PIEZO1c.2242C>G (p.Gln748Glu)
n.269+2545G>C
dbSNP gnomAD v4
16g.88733993G=CA2241262289HSALR1,PIEZO1c.2242C= (p.Gln748=)
n.269+2545G=
16g.88733993G>TCA397112961HSALR1,PIEZO1c.2242C>A (p.Gln748Lys)
n.269+2545G>T
gnomAD v4
16g.88733993_88734008delinsGCTGCTGCTGATGCTCCA2241262288HSALR1,PIEZO1c.2227_2242delinsGAGCATCAGCAGCAGC (p.Glu743=)
n.269+2545_269+2560delinsGCTGCTGCTGATGCTC
16g.88733994C>ACA397112962HSALR1,PIEZO1c.2241G>T (p.Gln747His)
n.269+2546C>A
gnomAD v4
16g.88733994C>GCA397112963HSALR1,PIEZO1c.2241G>C (p.Gln747His)
n.269+2546C>G
16g.88733994C>TCA497366709HSALR1,PIEZO1c.2241G>A (p.Gln747=)
n.269+2546C>T
16g.88734002_88734016delCA286423382HSALR1,PIEZO1c.2227_2241del (p.Glu743_Gln747del)
n.269+2554_269+2568del
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88733995T>ACA397112966HSALR1,PIEZO1c.2240A>T (p.Gln747Leu)
n.269+2547T>A
16g.88733995T>CCA397112967HSALR1,PIEZO1c.2240A>G (p.Gln747Arg)
n.269+2547T>C
16g.88733995T>GCA397112968HSALR1,PIEZO1c.2240A>C (p.Gln747Pro)
n.269+2547T>G
16g.88733996G>ACA397112974HSALR1,PIEZO1c.2239C>T (p.Gln747Ter)
n.269+2548G>A
gnomAD v4
16g.88733996G>CCA397112973HSALR1,PIEZO1c.2239C>G (p.Gln747Glu)
n.269+2548G>C
16g.88733996G>TCA397112970HSALR1,PIEZO1c.2239C>A (p.Gln747Lys)
n.269+2548G>T
gnomAD v4
16g.88733997C>ACA397112976HSALR1,PIEZO1c.2238G>T (p.Gln746His)
n.269+2549C>A
gnomAD v4
16g.88733997C>GCA397112977HSALR1,PIEZO1c.2238G>C (p.Gln746His)
n.269+2549C>G
16g.88733997C>TCA497366710HSALR1,PIEZO1c.2238G>A (p.Gln746=)
n.269+2549C>T
16g.88734003_88734014dupCA2634881244HSALR1,PIEZO1c.2227_2238dup (p.Gln746_Gln747insGluHisGlnGln)
n.269+2555_269+2566dup
gnomAD v4
16g.88733998T>ACA397112979HSALR1,PIEZO1c.2237A>T (p.Gln746Leu)
n.269+2550T>A
16g.88733998T>CCA397112981HSALR1,PIEZO1c.2237A>G (p.Gln746Arg)
n.269+2550T>C
gnomAD v4
16g.88733998T>GCA397112983HSALR1,PIEZO1c.2237A>C (p.Gln746Pro)
n.269+2550T>G
16g.88733998_88733999delCA497366711HSALR1,PIEZO1c.2236_2237del (p.Gln746AlafsTer30)
n.269+2550_269+2551del
gnomAD v4
16g.88734002_88734007delCA2634881245HSALR1,PIEZO1c.2232_2237del (p.His744_Gln745del)
n.269+2554_269+2559del
gnomAD v4
16g.88733999G>ACA397112985HSALR1,PIEZO1c.2236C>T (p.Gln746Ter)
n.269+2551G>A
gnomAD v4
16g.88733999G>CCA397112988HSALR1,PIEZO1c.2236C>G (p.Gln746Glu)
n.269+2551G>C
16g.88733999G=CA2241262290HSALR1,PIEZO1c.2236C= (p.Gln746=)
n.269+2551G=
16g.88733999G>TCA397112990HSALR1,PIEZO1c.2236C>A (p.Gln746Lys)
n.269+2551G>T
dbSNP gnomAD v2 gnomAD v4
16g.88734000C>ACA286423389HSALR1,PIEZO1c.2235G>T (p.Gln745His)
n.269+2552C>A
dbSNP gnomAD v4
16g.88734000C=CA2241262291HSALR1,PIEZO1c.2235G= (p.Gln745=)
n.269+2552C=
16g.88734000C>GCA397112992HSALR1,PIEZO1c.2235G>C (p.Gln745His)
n.269+2552C>G
16g.88734000C>TCA497366712HSALR1,PIEZO1c.2235G>A (p.Gln745=)
n.269+2552C>T
16g.88734000_88734003delinsCTGACA2241262292HSALR1,PIEZO1c.2232_2235delinsTCAG (p.His744=)
n.269+2552_269+2555delinsCTGA
16g.88734001delCA497366713HSALR1,PIEZO1c.2234del (p.Gln745ArgfsTer?)
n.269+2553del
gnomAD v4
16g.88734001T>ACA397112993HSALR1,PIEZO1c.2234A>T (p.Gln745Leu)
n.269+2553T>A
16g.88734001T>CCA397112994HSALR1,PIEZO1c.2234A>G (p.Gln745Arg)
n.269+2553T>C
dbSNP gnomAD v4
16g.88734001T>GCA397112996HSALR1,PIEZO1c.2234A>C (p.Gln745Pro)
n.269+2553T>G
gnomAD v4
16g.88734001T=CA2241262293HSALR1,PIEZO1c.2234A= (p.Gln745=)
n.269+2553T=
16g.88734003_88734005delCA624449500HSALR1,PIEZO1c.2232_2234del (p.His744del)
n.269+2555_269+2557del
dbSNP gnomAD v2 gnomAD v4
16g.88734002G>ACA286423392HSALR1,PIEZO1c.2233C>T (p.Gln745Ter)
n.269+2554G>A
dbSNP gnomAD v4
16g.88734002G>CCA286423398HSALR1,PIEZO1c.2233C>G (p.Gln745Glu)
n.269+2554G>C
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.88734002G=CA2241262294HSALR1,PIEZO1c.2233C= (p.Gln745=)
n.269+2554G=
16g.88734002G>TCA397112998HSALR1,PIEZO1c.2233C>A (p.Gln745Lys)
n.269+2554G>T
dbSNP gnomAD v2 gnomAD v4
16g.88734003A=CA2241262295HSALR1,PIEZO1c.2232T= (p.His744=)
n.269+2555A=
16g.88734003A>CCA8232836HSALR1,PIEZO1c.2232T>G (p.His744Gln)
n.269+2555A>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.88734003A>GCA497366714HSALR1,PIEZO1c.2232T>C (p.His744=)
n.269+2555A>G
16g.88734003A>TCA397113005HSALR1,PIEZO1c.2232T>A (p.His744Gln)
n.269+2555A>T
gnomAD v4
16g.88734003_88734012delinsATGCTCCTGCCA2241262296HSALR1,PIEZO1c.2223_2232delinsGCAGGAGCAT (p.Gln741=)
n.269+2555_269+2564delinsATGCTCCTGC
16g.88734004T>ACA397113007HSALR1,PIEZO1c.2231A>T (p.His744Leu)
n.269+2556T>A
16g.88734004T>CCA397113009HSALR1,PIEZO1c.2231A>G (p.His744Arg)
n.269+2556T>C
16g.88734004T>GCA397113010HSALR1,PIEZO1c.2231A>C (p.His744Pro)
n.269+2556T>G
16g.88734008_88734013dupCA2634881246HSALR1,PIEZO1c.2226_2231dup (p.Glu743_His744insGlnGlu)
n.269+2560_269+2565dup
gnomAD v4
16g.88734011_88734019dupCA2634881247HSALR1,PIEZO1c.2223_2231dup (p.Glu743_His744insGlnGlnGlu)
n.269+2563_269+2571dup
gnomAD v4
16g.88734011_88734019delCA980334474HSALR1,PIEZO1c.2223_2231del (p.Gln741_Glu743del)
n.269+2563_269+2571del
dbSNP gnomAD v3 gnomAD v4
16g.88734005G>ACA397113016HSALR1,PIEZO1c.2230C>T (p.His744Tyr)
n.269+2557G>A
gnomAD v4
16g.88734005G>CCA397113012HSALR1,PIEZO1c.2230C>G (p.His744Asp)
n.269+2557G>C
dbSNP gnomAD v2 gnomAD v4
16g.88734005G=CA2241262297HSALR1,PIEZO1c.2230C= (p.His744=)
n.269+2557G=
16g.88734005G>TCA397113014HSALR1,PIEZO1c.2230C>A (p.His744Asn)
n.269+2557G>T
gnomAD v4
16g.88734006C>ACA397113018HSALR1,PIEZO1c.2229G>T (p.Glu743Asp)
n.269+2558C>A
gnomAD v4
16g.88734006C>GCA397113020HSALR1,PIEZO1c.2229G>C (p.Glu743Asp)
n.269+2558C>G
gnomAD v4
16g.88734006C>TCA497366715HSALR1,PIEZO1c.2229G>A (p.Glu743=)
n.269+2558C>T
gnomAD v4
16g.88734010_88734021dupCA624449501HSALR1,PIEZO1c.2218_2229dup (p.Glu743_His744insGluGlnGlnGlu)
n.269+2562_269+2573dup
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88734007T>ACA397113021HSALR1,PIEZO1c.2228A>T (p.Glu743Val)
n.269+2559T>A
16g.88734007T>CCA397113024HSALR1,PIEZO1c.2228A>G (p.Glu743Gly)
n.269+2559T>C
gnomAD v4
16g.88734007T>GCA397113025HSALR1,PIEZO1c.2228A>C (p.Glu743Ala)
n.269+2559T>G
16g.88734008C>ACA397113031HSALR1,PIEZO1c.2227G>T (p.Glu743Ter)
n.269+2560C>A
16g.88734008C=CA2241262298HSALR1,PIEZO1c.2227G= (p.Glu743=)
n.269+2560C=
16g.88734008C>GCA397113029HSALR1,PIEZO1c.2227G>C (p.Glu743Gln)
n.269+2560C>G
dbSNP gnomAD v4
16g.88734008C>TCA286423408HSALR1,PIEZO1c.2227G>A (p.Glu743Lys)
n.269+2560C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88734009C>ACA397113032HSALR1,PIEZO1c.2226G>T (p.Gln742His)
n.269+2561C>A
gnomAD v4
16g.88734009C>GCA397113033HSALR1,PIEZO1c.2226G>C (p.Gln742His)
n.269+2561C>G
16g.88734009C>TCA497366716HSALR1,PIEZO1c.2226G>A (p.Gln742=)
n.269+2561C>T
16g.88734010T>ACA397113035HSALR1,PIEZO1c.2225A>T (p.Gln742Leu)
n.269+2562T>A
16g.88734010T>CCA397113039HSALR1,PIEZO1c.2225A>G (p.Gln742Arg)
n.269+2562T>C
dbSNP gnomAD v2 gnomAD v4
16g.88734010T>GCA397113037HSALR1,PIEZO1c.2225A>C (p.Gln742Pro)
n.269+2562T>G
16g.88734010T=CA2241262299HSALR1,PIEZO1c.2225A= (p.Gln742=)
n.269+2562T=
16g.88734011G>ACA397113043HSALR1,PIEZO1c.2224C>T (p.Gln742Ter)
n.269+2563G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88734011G>CCA8232837HSALR1,PIEZO1c.2224C>G (p.Gln742Glu)
n.269+2563G>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.88734011G=CA2241262301HSALR1,PIEZO1c.2224C= (p.Gln742=)
n.269+2563G=
16g.88734011G>TCA397113046HSALR1,PIEZO1c.2224C>A (p.Gln742Lys)
n.269+2563G>T
gnomAD v4
16g.88734013_88734024dupCA2241262300HSALR1,PIEZO1c.2213_2224dup (p.Gln741_Gln742insArgGluGluGln)
n.269+2565_269+2576dup
dbSNP gnomAD v4
16g.88734012C>ACA397113047HSALR1,PIEZO1c.2223G>T (p.Gln741His)
n.269+2564C>A
gnomAD v4
16g.88734012C>GCA397113048HSALR1,PIEZO1c.2223G>C (p.Gln741His)
n.269+2564C>G
16g.88734012C>TCA497366717HSALR1,PIEZO1c.2223G>A (p.Gln741=)
n.269+2564C>T
gnomAD v4
16g.88734013T>ACA397113050HSALR1,PIEZO1c.2222A>T (p.Gln741Leu)
n.269+2565T>A
16g.88734013T>CCA397113051HSALR1,PIEZO1c.2222A>G (p.Gln741Arg)
n.269+2565T>C
16g.88734013T>GCA397113053HSALR1,PIEZO1c.2222A>C (p.Gln741Pro)
n.269+2565T>G
gnomAD v4
16g.88734014G>ACA397113056HSALR1,PIEZO1c.2221C>T (p.Gln741Ter)
n.269+2566G>A
gnomAD v4
16g.88734014G>CCA397113058HSALR1,PIEZO1c.2221C>G (p.Gln741Glu)
n.269+2566G>C
16g.88734014G>TCA397113059HSALR1,PIEZO1c.2221C>A (p.Gln741Lys)
n.269+2566G>T
gnomAD v4
16g.88734015C>ACA397113060HSALR1,PIEZO1c.2220G>T (p.Glu740Asp)
n.269+2567C>A
gnomAD v4
16g.88734015C=CA2241262302HSALR1,PIEZO1c.2220G= (p.Glu740=)
n.269+2567C=
16g.88734015C>GCA397113062HSALR1,PIEZO1c.2220G>C (p.Glu740Asp)
n.269+2567C>G
gnomAD v4
16g.88734015C>TCA497366718HSALR1,PIEZO1c.2220G>A (p.Glu740=)
n.269+2567C>T
dbSNP gnomAD v3 gnomAD v4
16g.88734016T>ACA397113067HSALR1,PIEZO1c.2219A>T (p.Glu740Val)
n.269+2568T>A
16g.88734016T>CCA397113065HSALR1,PIEZO1c.2219A>G (p.Glu740Gly)
n.269+2568T>C
gnomAD v4
16g.88734016T>GCA286423421HSALR1,PIEZO1c.2219A>C (p.Glu740Ala)
n.269+2568T>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88734016T=CA2241262303HSALR1,PIEZO1c.2219A= (p.Glu740=)
n.269+2568T=
16g.88734017C>ACA397113069HSALR1,PIEZO1c.2218G>T (p.Glu740Ter)
n.269+2569C>A
gnomAD v4
16g.88734017C>GCA397113070HSALR1,PIEZO1c.2218G>C (p.Glu740Gln)
n.269+2569C>G
gnomAD v4
16g.88734017C>TCA397113072HSALR1,PIEZO1c.2218G>A (p.Glu740Lys)
n.269+2569C>T
16g.88734018C>ACA397113073HSALR1,PIEZO1c.2217G>T (p.Glu739Asp)
n.269+2570C>A
gnomAD v4
16g.88734018C>GCA397113074HSALR1,PIEZO1c.2217G>C (p.Glu739Asp)
n.269+2570C>G
16g.88734018C>TCA497366719HSALR1,PIEZO1c.2217G>A (p.Glu739=)
n.269+2570C>T
16g.88734019T>ACA397113076HSALR1,PIEZO1c.2216A>T (p.Glu739Val)
n.269+2571T>A
16g.88734019T>CCA397113078HSALR1,PIEZO1c.2216A>G (p.Glu739Gly)
n.269+2571T>C
16g.88734019T>GCA397113079HSALR1,PIEZO1c.2216A>C (p.Glu739Ala)
n.269+2571T>G
16g.88734020C>ACA397113081HSALR1,PIEZO1c.2215G>T (p.Glu739Ter)
n.269+2572C>A
gnomAD v4
16g.88734020C=CA2241262304HSALR1,PIEZO1c.2215G= (p.Glu739=)
n.269+2572C=
16g.88734020C>GCA8232838HSALR1,PIEZO1c.2215G>C (p.Glu739Gln)
n.269+2572C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.88734020C>TCA397113083HSALR1,PIEZO1c.2215G>A (p.Glu739Lys)
n.269+2572C>T
gnomAD v4
16g.88734021C>ACA497366720HSALR1,PIEZO1c.2214G>T (p.Arg738=)
n.269+2573C>A
dbSNP gnomAD v2 gnomAD v4
16g.88734021C=CA2241262305HSALR1,PIEZO1c.2214G= (p.Arg738=)
n.269+2573C=
16g.88734021C>GCA497366721HSALR1,PIEZO1c.2214G>C (p.Arg738=)
n.269+2573C>G
gnomAD v4
16g.88734021C>TCA497366722HSALR1,PIEZO1c.2214G>A (p.Arg738=)
n.269+2573C>T
16g.88734022C>ACA397113086HSALR1,PIEZO1c.2213G>T (p.Arg738Leu)
n.269+2574C>A
gnomAD v4
16g.88734022C=CA2241262306HSALR1,PIEZO1c.2213G= (p.Arg738=)
n.269+2574C=
16g.88734022C>GCA8232840HSALR1,PIEZO1c.2213G>C (p.Arg738Pro)
n.269+2574C>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.88734022C>TCA8232839HSALR1,PIEZO1c.2213G>A (p.Arg738Gln)
n.269+2574C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.88734023G>ACA8232841HSALR1,PIEZO1c.2212C>T (p.Arg738Trp)
n.269+2575G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.88734023G>CCA397113088HSALR1,PIEZO1c.2212C>G (p.Arg738Gly)
n.269+2575G>C
gnomAD v4
16g.88734023G=CA2241262307HSALR1,PIEZO1c.2212C= (p.Arg738=)
n.269+2575G=
16g.88734023G>TCA497366723HSALR1,PIEZO1c.2212C>A (p.Arg738=)
n.269+2575G>T
16g.88734024C>ACA497366724HSALR1,PIEZO1c.2211G>T (p.Leu737=)
n.269+2576C>A
gnomAD v4
16g.88734024C>GCA497366725HSALR1,PIEZO1c.2211G>C (p.Leu737=)
n.269+2576C>G
gnomAD v4
16g.88734024C>TCA497366726HSALR1,PIEZO1c.2211G>A (p.Leu737=)
n.269+2576C>T
gnomAD v4
16g.88734025A>CCA397113090HSALR1,PIEZO1c.2210T>G (p.Leu737Arg)
n.269+2577A>C
16g.88734025A>GCA397113091HSALR1,PIEZO1c.2210T>C (p.Leu737Pro)
n.269+2577A>G
gnomAD v4
16g.88734025A>TCA397113093HSALR1,PIEZO1c.2210T>A (p.Leu737Gln)
n.269+2577A>T
16g.88734026G>ACA497366727HSALR1,PIEZO1c.2209C>T (p.Leu737=)
n.269+2578G>A
dbSNP gnomAD v4
16g.88734026G>CCA397113095HSALR1,PIEZO1c.2209C>G (p.Leu737Val)
n.269+2578G>C
16g.88734026G=CA2241262308HSALR1,PIEZO1c.2209C= (p.Leu737=)
n.269+2578G=
16g.88734026G>TCA286423429HSALR1,PIEZO1c.2209C>A (p.Leu737Met)
n.269+2578G>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88734027_88734032delCA2634881248HSALR1,PIEZO1c.2204_2209del (p.Pro735_Leu736del)
n.269+2579_269+2584del
gnomAD v4
16g.88734027C>ACA497366728HSALR1,PIEZO1c.2208G>T (p.Leu736=)
n.269+2579C>A
gnomAD v4
16g.88734027C=CA2241262309HSALR1,PIEZO1c.2208G= (p.Leu736=)
n.269+2579C=
16g.88734027C>GCA497366729HSALR1,PIEZO1c.2208G>C (p.Leu736=)
n.269+2579C>G
16g.88734027C>TCA497366730HSALR1,PIEZO1c.2208G>A (p.Leu736=)
n.269+2579C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88734028A=CA2241262310HSALR1,PIEZO1c.2207T= (p.Leu736=)
n.269+2580A=
16g.88734028A>CCA397113098HSALR1,PIEZO1c.2207T>G (p.Leu736Arg)
n.269+2580A>C
16g.88734028A>GCA286423430HSALR1,PIEZO1c.2207T>C (p.Leu736Pro)
n.269+2580A>G
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88734028A>TCA397113103HSALR1,PIEZO1c.2207T>A (p.Leu736Gln)
n.269+2580A>T
16g.88734029G>ACA497366731HSALR1,PIEZO1c.2206C>T (p.Leu736=)
n.269+2581G>A
gnomAD v4
16g.88734029G>CCA397113105HSALR1,PIEZO1c.2206C>G (p.Leu736Val)
n.269+2581G>C
16g.88734029G>TCA397113123HSALR1,PIEZO1c.2206C>A (p.Leu736Met)
n.269+2581G>T
16g.88734030T>ACA497366734HSALR1,PIEZO1c.2205A>T (p.Pro735=)
n.269+2582T>A
gnomAD v4
16g.88734030T>CCA497366733HSALR1,PIEZO1c.2205A>G (p.Pro735=)
n.269+2582T>C
16g.88734030T>GCA497366732HSALR1,PIEZO1c.2205A>C (p.Pro735=)
n.269+2582T>G
16g.88734031G>ACA397113132HSALR1,PIEZO1c.2204C>T (p.Pro735Leu)
n.269+2583G>A
dbSNP gnomAD v3 gnomAD v4
16g.88734031G>CCA397113134HSALR1,PIEZO1c.2204C>G (p.Pro735Arg)
n.269+2583G>C
16g.88734031G=CA2241262311HSALR1,PIEZO1c.2204C= (p.Pro735=)
n.269+2583G=
16g.88734031G>TCA397113129HSALR1,PIEZO1c.2204C>A (p.Pro735Gln)
n.269+2583G>T
dbSNP gnomAD v2 gnomAD v4
16g.88734032G>ACA397113139HSALR1,PIEZO1c.2203C>T (p.Pro735Ser)
n.269+2584G>A
dbSNP gnomAD v2 gnomAD v4
16g.88734032G>CCA397113140HSALR1,PIEZO1c.2203C>G (p.Pro735Ala)
n.269+2584G>C
gnomAD v4
16g.88734032G=CA2241262312HSALR1,PIEZO1c.2203C= (p.Pro735=)
n.269+2584G=
16g.88734032G>TCA397113141HSALR1,PIEZO1c.2203C>A (p.Pro735Thr)
n.269+2584G>T
dbSNP gnomAD v4
16g.88734033G>ACA8232842HSALR1,PIEZO1c.2202C>T (p.Thr734=)
n.269+2585G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.88734033G>CCA497366736HSALR1,PIEZO1c.2202C>G (p.Thr734=)
n.269+2585G>C
16g.88734033G=CA2241262313HSALR1,PIEZO1c.2202C= (p.Thr734=)
n.269+2585G=
16g.88734033G>TCA497366735HSALR1,PIEZO1c.2202C>A (p.Thr734=)
n.269+2585G>T
dbSNP gnomAD v4
16g.88734033_88734047dupCA725647421HSALR1,PIEZO1c.2188_2202dup (p.Thr734_Pro735insAlaValSerGlyThr)
n.269+2585_269+2599dup
dbSNP gnomAD v3 gnomAD v4
16g.88734034G>ACA397113149HSALR1,PIEZO1c.2201C>T (p.Thr734Ile)
n.269+2586G>A
gnomAD v4
16g.88734034G>CCA397113147HSALR1,PIEZO1c.2201C>G (p.Thr734Ser)
n.269+2586G>C
16g.88734034G>TCA397113145HSALR1,PIEZO1c.2201C>A (p.Thr734Asn)
n.269+2586G>T
gnomAD v4

Number of alleles fetched