Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.10784882C>ACA502893474PIEZO2c.2394G>T (p.Leu798=)
n.2451G>T
c.2241G>T (p.Leu747=)
c.381G>T (p.Leu127=)
c.2355G>T (p.Leu785=)
n.3391G>T
18g.10784882C=CA2284463217PIEZO2c.2394G= (p.Leu798=)
n.2451G=
c.2241G= (p.Leu747=)
c.381G= (p.Leu127=)
c.2355G= (p.Leu785=)
n.3391G=
18g.10784882C>GCA502893475PIEZO2c.2394G>C (p.Leu798=)
n.2451G>C
c.2241G>C (p.Leu747=)
c.381G>C (p.Leu127=)
c.2355G>C (p.Leu785=)
n.3391G>C
18g.10784882C>TCA502893476PIEZO2c.2394G>A (p.Leu798=)
n.2451G>A
c.2241G>A (p.Leu747=)
c.381G>A (p.Leu127=)
c.2355G>A (p.Leu785=)
n.3391G>A
 dbSNP
18g.10784883A>CCA401920390PIEZO2c.2393T>G (p.Leu798Arg)
n.2450T>G
c.2240T>G (p.Leu747Arg)
c.380T>G (p.Leu127Arg)
c.2354T>G (p.Leu785Arg)
n.3390T>G
18g.10784883A>GCA401920391PIEZO2c.2393T>C (p.Leu798Pro)
n.2450T>C
c.2240T>C (p.Leu747Pro)
c.380T>C (p.Leu127Pro)
c.2354T>C (p.Leu785Pro)
n.3390T>C
18g.10784883A>TCA401920392PIEZO2c.2393T>A (p.Leu798Gln)
n.2450T>A
c.2240T>A (p.Leu747Gln)
c.380T>A (p.Leu127Gln)
c.2354T>A (p.Leu785Gln)
n.3390T>A
18g.10784884G>ACA502893477PIEZO2c.2392C>T (p.Leu798=)
n.2449C>T
c.2239C>T (p.Leu747=)
c.379C>T (p.Leu127=)
c.2353C>T (p.Leu785=)
n.3389C>T
18g.10784884G>CCA401920393PIEZO2c.2392C>G (p.Leu798Val)
n.2449C>G
c.2239C>G (p.Leu747Val)
c.379C>G (p.Leu127Val)
c.2353C>G (p.Leu785Val)
n.3389C>G
18g.10784884G>TCA401920394PIEZO2c.2392C>A (p.Leu798Met)
n.2449C>A
c.2239C>A (p.Leu747Met)
c.379C>A (p.Leu127Met)
c.2353C>A (p.Leu785Met)
n.3389C>A
18g.10784885A>CCA401920395PIEZO2c.2391T>G (p.Phe797Leu)
n.2448T>G
c.2238T>G (p.Phe746Leu)
c.378T>G (p.Phe126Leu)
c.2352T>G (p.Phe784Leu)
n.3388T>G
18g.10784885A>GCA502893478PIEZO2c.2391T>C (p.Phe797=)
n.2448T>C
c.2238T>C (p.Phe746=)
c.378T>C (p.Phe126=)
c.2352T>C (p.Phe784=)
n.3388T>C
18g.10784885A>TCA401920396PIEZO2c.2391T>A (p.Phe797Leu)
n.2448T>A
c.2238T>A (p.Phe746Leu)
c.378T>A (p.Phe126Leu)
c.2352T>A (p.Phe784Leu)
n.3388T>A
18g.10784886A>CCA401920397PIEZO2c.2390T>G (p.Phe797Cys)
n.2447T>G
c.2237T>G (p.Phe746Cys)
c.377T>G (p.Phe126Cys)
c.2351T>G (p.Phe784Cys)
n.3387T>G
18g.10784886A>GCA401920398PIEZO2c.2390T>C (p.Phe797Ser)
n.2447T>C
c.2237T>C (p.Phe746Ser)
c.377T>C (p.Phe126Ser)
c.2351T>C (p.Phe784Ser)
n.3387T>C
18g.10784886A>TCA401920399PIEZO2c.2390T>A (p.Phe797Tyr)
n.2447T>A
c.2237T>A (p.Phe746Tyr)
c.377T>A (p.Phe126Tyr)
c.2351T>A (p.Phe784Tyr)
n.3387T>A
18g.10784887A>CCA401920400PIEZO2c.2389T>G (p.Phe797Val)
n.2446T>G
c.2236T>G (p.Phe746Val)
c.376T>G (p.Phe126Val)
c.2350T>G (p.Phe784Val)
n.3386T>G
18g.10784887A>GCA401920401PIEZO2c.2389T>C (p.Phe797Leu)
n.2446T>C
c.2236T>C (p.Phe746Leu)
c.376T>C (p.Phe126Leu)
c.2350T>C (p.Phe784Leu)
n.3386T>C
18g.10784887A>TCA401920402PIEZO2c.2389T>A (p.Phe797Ile)
n.2446T>A
c.2236T>A (p.Phe746Ile)
c.376T>A (p.Phe126Ile)
c.2350T>A (p.Phe784Ile)
n.3386T>A
18g.10784888G>ACA502893479PIEZO2c.2388C>T (p.Ser796=)
n.2445C>T
c.2235C>T (p.Ser745=)
c.375C>T (p.Ser125=)
c.2349C>T (p.Ser783=)
n.3385C>T
18g.10784888G>CCA502893480PIEZO2c.2388C>G (p.Ser796=)
n.2445C>G
c.2235C>G (p.Ser745=)
c.375C>G (p.Ser125=)
c.2349C>G (p.Ser783=)
n.3385C>G
18g.10784888G>TCA502893481PIEZO2c.2388C>A (p.Ser796=)
n.2445C>A
c.2235C>A (p.Ser745=)
c.375C>A (p.Ser125=)
c.2349C>A (p.Ser783=)
n.3385C>A
18g.10784889G>ACA401920403PIEZO2c.2387C>T (p.Ser796Phe)
n.2444C>T
c.2234C>T (p.Ser745Phe)
c.374C>T (p.Ser125Phe)
c.2348C>T (p.Ser783Phe)
n.3384C>T
18g.10784889G>CCA401920405PIEZO2c.2387C>G (p.Ser796Cys)
n.2444C>G
c.2234C>G (p.Ser745Cys)
c.374C>G (p.Ser125Cys)
c.2348C>G (p.Ser783Cys)
n.3384C>G
18g.10784889G=CA2284463218PIEZO2c.2387C= (p.Ser796=)
n.2444C=
c.2234C= (p.Ser745=)
c.374C= (p.Ser125=)
c.2348C= (p.Ser783=)
n.3384C=
18g.10784889G>TCA401920404PIEZO2c.2387C>A (p.Ser796Tyr)
n.2444C>A
c.2234C>A (p.Ser745Tyr)
c.374C>A (p.Ser125Tyr)
c.2348C>A (p.Ser783Tyr)
n.3384C>A
 dbSNP
18g.10784890A>CCA401920406PIEZO2c.2386T>G (p.Ser796Ala)
n.2443T>G
c.2233T>G (p.Ser745Ala)
c.373T>G (p.Ser125Ala)
c.2347T>G (p.Ser783Ala)
n.3383T>G
18g.10784890A>GCA401920407PIEZO2c.2386T>C (p.Ser796Pro)
n.2443T>C
c.2233T>C (p.Ser745Pro)
c.373T>C (p.Ser125Pro)
c.2347T>C (p.Ser783Pro)
n.3383T>C
18g.10784890A>TCA401920408PIEZO2c.2386T>A (p.Ser796Thr)
n.2443T>A
c.2233T>A (p.Ser745Thr)
c.373T>A (p.Ser125Thr)
c.2347T>A (p.Ser783Thr)
n.3383T>A
18g.10784891G>ACA502893482PIEZO2c.2385C>T (p.Thr795=)
n.2442C>T
c.2232C>T (p.Thr744=)
c.372C>T (p.Thr124=)
c.2346C>T (p.Thr782=)
n.3382C>T
 gnomAD v4
18g.10784891G>CCA502893484PIEZO2c.2385C>G (p.Thr795=)
n.2442C>G
c.2232C>G (p.Thr744=)
c.372C>G (p.Thr124=)
c.2346C>G (p.Thr782=)
n.3382C>G
18g.10784891G>TCA502893483PIEZO2c.2385C>A (p.Thr795=)
n.2442C>A
c.2232C>A (p.Thr744=)
c.372C>A (p.Thr124=)
c.2346C>A (p.Thr782=)
n.3382C>A
18g.10784892G>ACA401920409PIEZO2c.2384C>T (p.Thr795Ile)
n.2441C>T
c.2231C>T (p.Thr744Ile)
c.371C>T (p.Thr124Ile)
c.2345C>T (p.Thr782Ile)
n.3381C>T
 ClinVar
18g.10784892G>CCA401920410PIEZO2c.2384C>G (p.Thr795Ser)
n.2441C>G
c.2231C>G (p.Thr744Ser)
c.371C>G (p.Thr124Ser)
c.2345C>G (p.Thr782Ser)
n.3381C>G
18g.10784892G>TCA401920411PIEZO2c.2384C>A (p.Thr795Asn)
n.2441C>A
c.2231C>A (p.Thr744Asn)
c.371C>A (p.Thr124Asn)
c.2345C>A (p.Thr782Asn)
n.3381C>A
18g.10784893T>ACA401920412PIEZO2c.2383A>T (p.Thr795Ser)
n.2440A>T
c.2230A>T (p.Thr744Ser)
c.370A>T (p.Thr124Ser)
c.2344A>T (p.Thr782Ser)
n.3380A>T
18g.10784893T>CCA401920413PIEZO2c.2383A>G (p.Thr795Ala)
n.2440A>G
c.2230A>G (p.Thr744Ala)
c.370A>G (p.Thr124Ala)
c.2344A>G (p.Thr782Ala)
n.3380A>G
 ClinVar dbSNP gnomAD v4
18g.10784893T>GCA401920414PIEZO2c.2383A>C (p.Thr795Pro)
n.2440A>C
c.2230A>C (p.Thr744Pro)
c.370A>C (p.Thr124Pro)
c.2344A>C (p.Thr782Pro)
n.3380A>C
18g.10784893T=CA2284463219PIEZO2c.2383A= (p.Thr795=)
n.2440A=
c.2230A= (p.Thr744=)
c.370A= (p.Thr124=)
c.2344A= (p.Thr782=)
n.3380A=
18g.10784894T>ACA502893485PIEZO2c.2382A>T (p.Pro794=)
n.2439A>T
c.2229A>T (p.Pro743=)
c.369A>T (p.Pro123=)
c.2343A>T (p.Pro781=)
n.3379A>T
18g.10784894T>CCA502893486PIEZO2c.2382A>G (p.Pro794=)
n.2439A>G
c.2229A>G (p.Pro743=)
c.369A>G (p.Pro123=)
c.2343A>G (p.Pro781=)
n.3379A>G
 gnomAD v4
18g.10784894T>GCA502893487PIEZO2c.2382A>C (p.Pro794=)
n.2439A>C
c.2229A>C (p.Pro743=)
c.369A>C (p.Pro123=)
c.2343A>C (p.Pro781=)
n.3379A>C
 gnomAD v4
18g.10784895G>ACA401920415PIEZO2c.2381C>T (p.Pro794Leu)
n.2438C>T
c.2228C>T (p.Pro743Leu)
c.368C>T (p.Pro123Leu)
c.2342C>T (p.Pro781Leu)
n.3378C>T
18g.10784895G>CCA401920416PIEZO2c.2381C>G (p.Pro794Arg)
n.2438C>G
c.2228C>G (p.Pro743Arg)
c.368C>G (p.Pro123Arg)
c.2342C>G (p.Pro781Arg)
n.3378C>G
18g.10784895G>TCA401920417PIEZO2c.2381C>A (p.Pro794Gln)
n.2438C>A
c.2228C>A (p.Pro743Gln)
c.368C>A (p.Pro123Gln)
c.2342C>A (p.Pro781Gln)
n.3378C>A
 gnomAD v4
18g.10784896G>ACA401920420PIEZO2c.2380C>T (p.Pro794Ser)
n.2437C>T
c.2227C>T (p.Pro743Ser)
c.367C>T (p.Pro123Ser)
c.2341C>T (p.Pro781Ser)
n.3377C>T
18g.10784896G>CCA401920419PIEZO2c.2380C>G (p.Pro794Ala)
n.2437C>G
c.2227C>G (p.Pro743Ala)
c.367C>G (p.Pro123Ala)
c.2341C>G (p.Pro781Ala)
n.3377C>G
 dbSNP gnomAD v2 gnomAD v4
18g.10784896G=CA2284463220PIEZO2c.2380C= (p.Pro794=)
n.2437C=
c.2227C= (p.Pro743=)
c.367C= (p.Pro123=)
c.2341C= (p.Pro781=)
n.3377C=
18g.10784896G>TCA401920418PIEZO2c.2380C>A (p.Pro794Thr)
n.2437C>A
c.2227C>A (p.Pro743Thr)
c.367C>A (p.Pro123Thr)
c.2341C>A (p.Pro781Thr)
n.3377C>A
18g.10784897G>ACA502893488PIEZO2c.2379C>T (p.Ile793=)
n.2436C>T
c.2226C>T (p.Ile742=)
c.366C>T (p.Ile122=)
c.2340C>T (p.Ile780=)
n.3376C>T
18g.10784897G>CCA401920421PIEZO2c.2379C>G (p.Ile793Met)
n.2436C>G
c.2226C>G (p.Ile742Met)
c.366C>G (p.Ile122Met)
c.2340C>G (p.Ile780Met)
n.3376C>G
18g.10784897G>TCA502893489PIEZO2c.2379C>A (p.Ile793=)
n.2436C>A
c.2226C>A (p.Ile742=)
c.366C>A (p.Ile122=)
c.2340C>A (p.Ile780=)
n.3376C>A
18g.10784898A>CCA401920422PIEZO2c.2378T>G (p.Ile793Ser)
n.2435T>G
c.2225T>G (p.Ile742Ser)
c.365T>G (p.Ile122Ser)
c.2339T>G (p.Ile780Ser)
n.3375T>G
18g.10784898A>GCA401920423PIEZO2c.2378T>C (p.Ile793Thr)
n.2435T>C
c.2225T>C (p.Ile742Thr)
c.365T>C (p.Ile122Thr)
c.2339T>C (p.Ile780Thr)
n.3375T>C
18g.10784898A>TCA401920424PIEZO2c.2378T>A (p.Ile793Asn)
n.2435T>A
c.2225T>A (p.Ile742Asn)
c.365T>A (p.Ile122Asn)
c.2339T>A (p.Ile780Asn)
n.3375T>A
18g.10784899T>ACA401920425PIEZO2c.2377A>T (p.Ile793Phe)
n.2434A>T
c.2224A>T (p.Ile742Phe)
c.364A>T (p.Ile122Phe)
c.2338A>T (p.Ile780Phe)
n.3374A>T
18g.10784899T>CCA401920426PIEZO2c.2377A>G (p.Ile793Val)
n.2434A>G
c.2224A>G (p.Ile742Val)
c.364A>G (p.Ile122Val)
c.2338A>G (p.Ile780Val)
n.3374A>G
 gnomAD v4
18g.10784899T>GCA401920427PIEZO2c.2377A>C (p.Ile793Leu)
n.2434A>C
c.2224A>C (p.Ile742Leu)
c.364A>C (p.Ile122Leu)
c.2338A>C (p.Ile780Leu)
n.3374A>C
18g.10784900G>ACA502893490PIEZO2c.2376C>T (p.Phe792=)
n.2433C>T
c.2223C>T (p.Phe741=)
c.363C>T (p.Phe121=)
c.2337C>T (p.Phe779=)
n.3373C>T
18g.10784900G>CCA401920428PIEZO2c.2376C>G (p.Phe792Leu)
n.2433C>G
c.2223C>G (p.Phe741Leu)
c.363C>G (p.Phe121Leu)
c.2337C>G (p.Phe779Leu)
n.3373C>G
18g.10784900G>TCA401920429PIEZO2c.2376C>A (p.Phe792Leu)
n.2433C>A
c.2223C>A (p.Phe741Leu)
c.363C>A (p.Phe121Leu)
c.2337C>A (p.Phe779Leu)
n.3373C>A
18g.10784901A>CCA401920430PIEZO2c.2375T>G (p.Phe792Cys)
n.2432T>G
c.2222T>G (p.Phe741Cys)
c.362T>G (p.Phe121Cys)
c.2336T>G (p.Phe779Cys)
n.3372T>G
18g.10784901A>GCA401920431PIEZO2c.2375T>C (p.Phe792Ser)
n.2432T>C
c.2222T>C (p.Phe741Ser)
c.362T>C (p.Phe121Ser)
c.2336T>C (p.Phe779Ser)
n.3372T>C
 gnomAD v4
18g.10784901A>TCA401920432PIEZO2c.2375T>A (p.Phe792Tyr)
n.2432T>A
c.2222T>A (p.Phe741Tyr)
c.362T>A (p.Phe121Tyr)
c.2336T>A (p.Phe779Tyr)
n.3372T>A
18g.10784902A=CA2284463221PIEZO2c.2374T= (p.Phe792=)
n.2431T=
c.2221T= (p.Phe741=)
c.361T= (p.Phe121=)
c.2335T= (p.Phe779=)
n.3371T=
18g.10784902A>CCA401920435PIEZO2c.2374T>G (p.Phe792Val)
n.2431T>G
c.2221T>G (p.Phe741Val)
c.361T>G (p.Phe121Val)
c.2335T>G (p.Phe779Val)
n.3371T>G
18g.10784902A>GCA401920434PIEZO2c.2374T>C (p.Phe792Leu)
n.2431T>C
c.2221T>C (p.Phe741Leu)
c.361T>C (p.Phe121Leu)
c.2335T>C (p.Phe779Leu)
n.3371T>C
18g.10784902A>TCA401920433PIEZO2c.2374T>A (p.Phe792Ile)
n.2431T>A
c.2221T>A (p.Phe741Ile)
c.361T>A (p.Phe121Ile)
c.2335T>A (p.Phe779Ile)
n.3371T>A
18g.10784902_10784903insACACAGACCTCCA2284463222PIEZO2c.2373_2374insGAGGTCTGTGT (p.Phe792GlufsTer?)
n.2430_2431insGAGGTCTGTGT
c.2220_2221insGAGGTCTGTGT (p.Phe741GlufsTer?)
c.360_361insGAGGTCTGTGT (p.Phe121GlufsTer?)
c.2334_2335insGAGGTCTGTGT (p.Phe779GlufsTer?)
n.3370_3371insGAGGTCTGTGT
 dbSNP
18g.10784903T>ACA502893491PIEZO2c.2373A>T (p.Ile791=)
n.2430A>T
c.2220A>T (p.Ile740=)
c.360A>T (p.Ile120=)
c.2334A>T (p.Ile778=)
n.3370A>T
18g.10784903T>CCA401920436PIEZO2c.2373A>G (p.Ile791Met)
n.2430A>G
c.2220A>G (p.Ile740Met)
c.360A>G (p.Ile120Met)
c.2334A>G (p.Ile778Met)
n.3370A>G
18g.10784903T>GCA502893492PIEZO2c.2373A>C (p.Ile791=)
n.2430A>C
c.2220A>C (p.Ile740=)
c.360A>C (p.Ile120=)
c.2334A>C (p.Ile778=)
n.3370A>C
18g.10784904A>CCA401920438PIEZO2c.2372T>G (p.Ile791Arg)
n.2429T>G
c.2219T>G (p.Ile740Arg)
c.359T>G (p.Ile120Arg)
c.2333T>G (p.Ile778Arg)
n.3369T>G
18g.10784904A>GCA401920437PIEZO2c.2372T>C (p.Ile791Thr)
n.2429T>C
c.2219T>C (p.Ile740Thr)
c.359T>C (p.Ile120Thr)
c.2333T>C (p.Ile778Thr)
n.3369T>C
 gnomAD v4
18g.10784904A>TCA401920439PIEZO2c.2372T>A (p.Ile791Lys)
n.2429T>A
c.2219T>A (p.Ile740Lys)
c.359T>A (p.Ile120Lys)
c.2333T>A (p.Ile778Lys)
n.3369T>A
 ClinVar dbSNP
18g.10784905T>ACA401920440PIEZO2c.2371A>T (p.Ile791Leu)
n.2428A>T
c.2218A>T (p.Ile740Leu)
c.358A>T (p.Ile120Leu)
c.2332A>T (p.Ile778Leu)
n.3368A>T
18g.10784905T>CCA295999853PIEZO2c.2371A>G (p.Ile791Val)
n.2428A>G
c.2218A>G (p.Ile740Val)
c.358A>G (p.Ile120Val)
c.2332A>G (p.Ile778Val)
n.3368A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.10784905T>GCA401920441PIEZO2c.2371A>C (p.Ile791Leu)
n.2428A>C
c.2218A>C (p.Ile740Leu)
c.358A>C (p.Ile120Leu)
c.2332A>C (p.Ile778Leu)
n.3368A>C
18g.10784905T=CA2284463223PIEZO2c.2371A= (p.Ile791=)
n.2428A=
c.2218A= (p.Ile740=)
c.358A= (p.Ile120=)
c.2332A= (p.Ile778=)
n.3368A=
18g.10784906G>ACA295999857PIEZO2c.2370C>T (p.Arg790=)
n.2427C>T
c.2217C>T (p.Arg739=)
c.357C>T (p.Arg119=)
c.2331C>T (p.Arg777=)
n.3367C>T
 dbSNP
18g.10784906G>CCA502893493PIEZO2c.2370C>G (p.Arg790=)
n.2427C>G
c.2217C>G (p.Arg739=)
c.357C>G (p.Arg119=)
c.2331C>G (p.Arg777=)
n.3367C>G
18g.10784906G=CA2284463224PIEZO2c.2370C= (p.Arg790=)
n.2427C=
c.2217C= (p.Arg739=)
c.357C= (p.Arg119=)
c.2331C= (p.Arg777=)
n.3367C=
18g.10784906G>TCA502893494PIEZO2c.2370C>A (p.Arg790=)
n.2427C>A
c.2217C>A (p.Arg739=)
c.357C>A (p.Arg119=)
c.2331C>A (p.Arg777=)
n.3367C>A
18g.10784907C>ACA401920442PIEZO2c.2369G>T (p.Arg790Leu)
n.2426G>T
c.2216G>T (p.Arg739Leu)
c.356G>T (p.Arg119Leu)
c.2330G>T (p.Arg777Leu)
n.3366G>T
 gnomAD v4
18g.10784907C=CA2284463225PIEZO2c.2369G= (p.Arg790=)
n.2426G=
c.2216G= (p.Arg739=)
c.356G= (p.Arg119=)
c.2330G= (p.Arg777=)
n.3366G=
18g.10784907C>GCA401920443PIEZO2c.2369G>C (p.Arg790Pro)
n.2426G>C
c.2216G>C (p.Arg739Pro)
c.356G>C (p.Arg119Pro)
c.2330G>C (p.Arg777Pro)
n.3366G>C
18g.10784907C>TCA295999863PIEZO2c.2369G>A (p.Arg790His)
n.2426G>A
c.2216G>A (p.Arg739His)
c.356G>A (p.Arg119His)
c.2330G>A (p.Arg777His)
n.3366G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.10784908G>ACA401920444PIEZO2c.2368C>T (p.Arg790Cys)
n.2425C>T
c.2215C>T (p.Arg739Cys)
c.355C>T (p.Arg119Cys)
c.2329C>T (p.Arg777Cys)
n.3365C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.10784908G>CCA401920446PIEZO2c.2368C>G (p.Arg790Gly)
n.2425C>G
c.2215C>G (p.Arg739Gly)
c.355C>G (p.Arg119Gly)
c.2329C>G (p.Arg777Gly)
n.3365C>G
18g.10784908G=CA2284463226PIEZO2c.2368C= (p.Arg790=)
n.2425C=
c.2215C= (p.Arg739=)
c.355C= (p.Arg119=)
c.2329C= (p.Arg777=)
n.3365C=
18g.10784908G>TCA401920445PIEZO2c.2368C>A (p.Arg790Ser)
n.2425C>A
c.2215C>A (p.Arg739Ser)
c.355C>A (p.Arg119Ser)
c.2329C>A (p.Arg777Ser)
n.3365C>A
18g.10784909A>CCA502893495PIEZO2c.2367T>G (p.Thr789=)
n.2424T>G
c.2214T>G (p.Thr738=)
c.354T>G (p.Thr118=)
c.2328T>G (p.Thr776=)
n.3364T>G
18g.10784909A>GCA502893496PIEZO2c.2367T>C (p.Thr789=)
n.2424T>C
c.2214T>C (p.Thr738=)
c.354T>C (p.Thr118=)
c.2328T>C (p.Thr776=)
n.3364T>C
18g.10784909A>TCA502893497PIEZO2c.2367T>A (p.Thr789=)
n.2424T>A
c.2214T>A (p.Thr738=)
c.354T>A (p.Thr118=)
c.2328T>A (p.Thr776=)
n.3364T>A
18g.10784910G>ACA401920447PIEZO2c.2366C>T (p.Thr789Ile)
n.2423C>T
c.2213C>T (p.Thr738Ile)
c.353C>T (p.Thr118Ile)
c.2327C>T (p.Thr776Ile)
n.3363C>T
 dbSNP gnomAD v2 gnomAD v4
18g.10784910G>CCA401920448PIEZO2c.2366C>G (p.Thr789Ser)
n.2423C>G
c.2213C>G (p.Thr738Ser)
c.353C>G (p.Thr118Ser)
c.2327C>G (p.Thr776Ser)
n.3363C>G
 gnomAD v4
18g.10784910G=CA2284463227PIEZO2c.2366C= (p.Thr789=)
n.2423C=
c.2213C= (p.Thr738=)
c.353C= (p.Thr118=)
c.2327C= (p.Thr776=)
n.3363C=
18g.10784910G>TCA401920449PIEZO2c.2366C>A (p.Thr789Asn)
n.2423C>A
c.2213C>A (p.Thr738Asn)
c.353C>A (p.Thr118Asn)
c.2327C>A (p.Thr776Asn)
n.3363C>A
18g.10784911T>ACA401920450PIEZO2c.2365A>T (p.Thr789Ser)
n.2422A>T
c.2212A>T (p.Thr738Ser)
c.352A>T (p.Thr118Ser)
c.2326A>T (p.Thr776Ser)
n.3362A>T
18g.10784911T>CCA401920451PIEZO2c.2365A>G (p.Thr789Ala)
n.2422A>G
c.2212A>G (p.Thr738Ala)
c.352A>G (p.Thr118Ala)
c.2326A>G (p.Thr776Ala)
n.3362A>G
18g.10784911T>GCA401920452PIEZO2c.2365A>C (p.Thr789Pro)
n.2422A>C
c.2212A>C (p.Thr738Pro)
c.352A>C (p.Thr118Pro)
c.2326A>C (p.Thr776Pro)
n.3362A>C
18g.10784912G>ACA502893498PIEZO2c.2364C>T (p.Phe788=)
n.2421C>T
c.2211C>T (p.Phe737=)
c.351C>T (p.Phe117=)
c.2325C>T (p.Phe775=)
n.3361C>T
18g.10784912G>CCA401920453PIEZO2c.2364C>G (p.Phe788Leu)
n.2421C>G
c.2211C>G (p.Phe737Leu)
c.351C>G (p.Phe117Leu)
c.2325C>G (p.Phe775Leu)
n.3361C>G
18g.10784912G>TCA401920454PIEZO2c.2364C>A (p.Phe788Leu)
n.2421C>A
c.2211C>A (p.Phe737Leu)
c.351C>A (p.Phe117Leu)
c.2325C>A (p.Phe775Leu)
n.3361C>A
18g.10784913A>CCA401920455PIEZO2c.2363T>G (p.Phe788Cys)
n.2420T>G
c.2210T>G (p.Phe737Cys)
c.350T>G (p.Phe117Cys)
c.2324T>G (p.Phe775Cys)
n.3360T>G
18g.10784913A>GCA401920456PIEZO2c.2363T>C (p.Phe788Ser)
n.2420T>C
c.2210T>C (p.Phe737Ser)
c.350T>C (p.Phe117Ser)
c.2324T>C (p.Phe775Ser)
n.3360T>C
18g.10784913A>TCA401920457PIEZO2c.2363T>A (p.Phe788Tyr)
n.2420T>A
c.2210T>A (p.Phe737Tyr)
c.350T>A (p.Phe117Tyr)
c.2324T>A (p.Phe775Tyr)
n.3360T>A
18g.10784914A=CA2284463228PIEZO2c.2362T= (p.Phe788=)
n.2419T=
c.2209T= (p.Phe737=)
c.349T= (p.Phe117=)
c.2323T= (p.Phe775=)
n.3359T=
18g.10784914A>CCA401920458PIEZO2c.2362T>G (p.Phe788Val)
n.2419T>G
c.2209T>G (p.Phe737Val)
c.349T>G (p.Phe117Val)
c.2323T>G (p.Phe775Val)
n.3359T>G
18g.10784914A>GCA8892664PIEZO2c.2362T>C (p.Phe788Leu)
n.2419T>C
c.2209T>C (p.Phe737Leu)
c.349T>C (p.Phe117Leu)
c.2323T>C (p.Phe775Leu)
n.3359T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.10784914A>TCA401920459PIEZO2c.2362T>A (p.Phe788Ile)
n.2419T>A
c.2209T>A (p.Phe737Ile)
c.349T>A (p.Phe117Ile)
c.2323T>A (p.Phe775Ile)
n.3359T>A
18g.10784915T>ACA502893499PIEZO2c.2361A>T (p.Leu787=)
n.2418A>T
c.2208A>T (p.Leu736=)
c.348A>T (p.Leu116=)
c.2322A>T (p.Leu774=)
n.3358A>T
18g.10784915T>CCA295999868PIEZO2c.2361A>G (p.Leu787=)
n.2418A>G
c.2208A>G (p.Leu736=)
c.348A>G (p.Leu116=)
c.2322A>G (p.Leu774=)
n.3358A>G
 dbSNP
18g.10784915T>GCA502893500PIEZO2c.2361A>C (p.Leu787=)
n.2418A>C
c.2208A>C (p.Leu736=)
c.348A>C (p.Leu116=)
c.2322A>C (p.Leu774=)
n.3358A>C
 gnomAD v4
18g.10784915T=CA2284463229PIEZO2c.2361A= (p.Leu787=)
n.2418A=
c.2208A= (p.Leu736=)
c.348A= (p.Leu116=)
c.2322A= (p.Leu774=)
n.3358A=
18g.10784916A>CCA401920460PIEZO2c.2360T>G (p.Leu787Arg)
n.2417T>G
c.2207T>G (p.Leu736Arg)
c.347T>G (p.Leu116Arg)
c.2321T>G (p.Leu774Arg)
n.3357T>G
 ClinVar
18g.10784916A>GCA401920461PIEZO2c.2360T>C (p.Leu787Pro)
n.2417T>C
c.2207T>C (p.Leu736Pro)
c.347T>C (p.Leu116Pro)
c.2321T>C (p.Leu774Pro)
n.3357T>C
18g.10784916A>TCA401920462PIEZO2c.2360T>A (p.Leu787Gln)
n.2417T>A
c.2207T>A (p.Leu736Gln)
c.347T>A (p.Leu116Gln)
c.2321T>A (p.Leu774Gln)
n.3357T>A
18g.10784917G>ACA502893501PIEZO2c.2359C>T (p.Leu787=)
n.2416C>T
c.2206C>T (p.Leu736=)
c.346C>T (p.Leu116=)
c.2320C>T (p.Leu774=)
n.3356C>T
 gnomAD v4
18g.10784917G>CCA401920463PIEZO2c.2359C>G (p.Leu787Val)
n.2416C>G
c.2206C>G (p.Leu736Val)
c.346C>G (p.Leu116Val)
c.2320C>G (p.Leu774Val)
n.3356C>G
18g.10784917G>TCA401920464PIEZO2c.2359C>A (p.Leu787Ile)
n.2416C>A
c.2206C>A (p.Leu736Ile)
c.346C>A (p.Leu116Ile)
c.2320C>A (p.Leu774Ile)
n.3356C>A
18g.10784918T>ACA401920465PIEZO2c.2358A>T (p.Glu786Asp)
n.2415A>T
c.2205A>T (p.Glu735Asp)
c.345A>T (p.Glu115Asp)
c.2319A>T (p.Glu773Asp)
n.3355A>T
18g.10784918T>CCA502893502PIEZO2c.2358A>G (p.Glu786=)
n.2415A>G
c.2205A>G (p.Glu735=)
c.345A>G (p.Glu115=)
c.2319A>G (p.Glu773=)
n.3355A>G
18g.10784918T>GCA401920466PIEZO2c.2358A>C (p.Glu786Asp)
n.2415A>C
c.2205A>C (p.Glu735Asp)
c.345A>C (p.Glu115Asp)
c.2319A>C (p.Glu773Asp)
n.3355A>C
18g.10784919T>ACA401920467PIEZO2c.2357A>T (p.Glu786Val)
n.2414A>T
c.2204A>T (p.Glu735Val)
c.344A>T (p.Glu115Val)
c.2318A>T (p.Glu773Val)
n.3354A>T
18g.10784919T>CCA401920468PIEZO2c.2357A>G (p.Glu786Gly)
n.2414A>G
c.2204A>G (p.Glu735Gly)
c.344A>G (p.Glu115Gly)
c.2318A>G (p.Glu773Gly)
n.3354A>G
 dbSNP
18g.10784919T>GCA401920469PIEZO2c.2357A>C (p.Glu786Ala)
n.2414A>C
c.2204A>C (p.Glu735Ala)
c.344A>C (p.Glu115Ala)
c.2318A>C (p.Glu773Ala)
n.3354A>C
 gnomAD v4
18g.10784919T=CA2284463230PIEZO2c.2357A= (p.Glu786=)
n.2414A=
c.2204A= (p.Glu735=)
c.344A= (p.Glu115=)
c.2318A= (p.Glu773=)
n.3354A=
18g.10784920C>ACA401920470PIEZO2c.2356G>T (p.Glu786Ter)
n.2413G>T
c.2203G>T (p.Glu735Ter)
c.343G>T (p.Glu115Ter)
c.2317G>T (p.Glu773Ter)
n.3353G>T
18g.10784920C=CA2284463231PIEZO2c.2356G= (p.Glu786=)
n.2413G=
c.2203G= (p.Glu735=)
c.343G= (p.Glu115=)
c.2317G= (p.Glu773=)
n.3353G=
18g.10784920C>GCA401920471PIEZO2c.2356G>C (p.Glu786Gln)
n.2413G>C
c.2203G>C (p.Glu735Gln)
c.343G>C (p.Glu115Gln)
c.2317G>C (p.Glu773Gln)
n.3353G>C
18g.10784920C>TCA401920472PIEZO2c.2356G>A (p.Glu786Lys)
n.2413G>A
c.2203G>A (p.Glu735Lys)
c.343G>A (p.Glu115Lys)
c.2317G>A (p.Glu773Lys)
n.3353G>A
 dbSNP gnomAD v2 gnomAD v4
18g.10784921A=CA2284463232PIEZO2c.2355T= (p.Ala785=)
n.2412T=
c.2202T= (p.Ala734=)
c.342T= (p.Ala114=)
c.2316T= (p.Ala772=)
n.3352T=
18g.10784921A>CCA502893505PIEZO2c.2355T>G (p.Ala785=)
n.2412T>G
c.2202T>G (p.Ala734=)
c.342T>G (p.Ala114=)
c.2316T>G (p.Ala772=)
n.3352T>G
 dbSNP gnomAD v2 gnomAD v4
18g.10784921A>GCA502893504PIEZO2c.2355T>C (p.Ala785=)
n.2412T>C
c.2202T>C (p.Ala734=)
c.342T>C (p.Ala114=)
c.2316T>C (p.Ala772=)
n.3352T>C
18g.10784921A>TCA502893503PIEZO2c.2355T>A (p.Ala785=)
n.2412T>A
c.2202T>A (p.Ala734=)
c.342T>A (p.Ala114=)
c.2316T>A (p.Ala772=)
n.3352T>A
18g.10784922G>ACA401920473PIEZO2c.2354C>T (p.Ala785Val)
n.2411C>T
c.2201C>T (p.Ala734Val)
c.341C>T (p.Ala114Val)
c.2315C>T (p.Ala772Val)
n.3351C>T
 dbSNP gnomAD v4
18g.10784922G>CCA401920475PIEZO2c.2354C>G (p.Ala785Gly)
n.2411C>G
c.2201C>G (p.Ala734Gly)
c.341C>G (p.Ala114Gly)
c.2315C>G (p.Ala772Gly)
n.3351C>G
18g.10784922G=CA2284463233PIEZO2c.2354C= (p.Ala785=)
n.2411C=
c.2201C= (p.Ala734=)
c.341C= (p.Ala114=)
c.2315C= (p.Ala772=)
n.3351C=
18g.10784922G>TCA401920474PIEZO2c.2354C>A (p.Ala785Asp)
n.2411C>A
c.2201C>A (p.Ala734Asp)
c.341C>A (p.Ala114Asp)
c.2315C>A (p.Ala772Asp)
n.3351C>A
18g.10784923C>ACA401920476PIEZO2c.2353G>T (p.Ala785Ser)
n.2410G>T
c.2200G>T (p.Ala734Ser)
c.340G>T (p.Ala114Ser)
c.2314G>T (p.Ala772Ser)
n.3350G>T
18g.10784923C=CA2284463234PIEZO2c.2353G= (p.Ala785=)
n.2410G=
c.2200G= (p.Ala734=)
c.340G= (p.Ala114=)
c.2314G= (p.Ala772=)
n.3350G=
18g.10784923C>GCA401920477PIEZO2c.2353G>C (p.Ala785Pro)
n.2410G>C
c.2200G>C (p.Ala734Pro)
c.340G>C (p.Ala114Pro)
c.2314G>C (p.Ala772Pro)
n.3350G>C
18g.10784923C>TCA401920478PIEZO2c.2353G>A (p.Ala785Thr)
n.2410G>A
c.2200G>A (p.Ala734Thr)
c.340G>A (p.Ala114Thr)
c.2314G>A (p.Ala772Thr)
n.3350G>A
 dbSNP gnomAD v3 gnomAD v4
18g.10784924C>ACA502893506PIEZO2c.2352G>T (p.Val784=)
n.2409G>T
c.2199G>T (p.Val733=)
c.339G>T (p.Val113=)
c.2313G>T (p.Val771=)
n.3349G>T
18g.10784924C>GCA502893507PIEZO2c.2352G>C (p.Val784=)
n.2409G>C
c.2199G>C (p.Val733=)
c.339G>C (p.Val113=)
c.2313G>C (p.Val771=)
n.3349G>C
18g.10784924C>TCA502893508PIEZO2c.2352G>A (p.Val784=)
n.2409G>A
c.2199G>A (p.Val733=)
c.339G>A (p.Val113=)
c.2313G>A (p.Val771=)
n.3349G>A
18g.10784925A>CCA401920479PIEZO2c.2351T>G (p.Val784Gly)
n.2408T>G
c.2198T>G (p.Val733Gly)
c.338T>G (p.Val113Gly)
c.2312T>G (p.Val771Gly)
n.3348T>G
18g.10784925A>GCA401920480PIEZO2c.2351T>C (p.Val784Ala)
n.2408T>C
c.2198T>C (p.Val733Ala)
c.338T>C (p.Val113Ala)
c.2312T>C (p.Val771Ala)
n.3348T>C
18g.10784925A>TCA401920481PIEZO2c.2351T>A (p.Val784Glu)
n.2408T>A
c.2198T>A (p.Val733Glu)
c.338T>A (p.Val113Glu)
c.2312T>A (p.Val771Glu)
n.3348T>A
18g.10784926C>ACA401920482PIEZO2c.2350G>T (p.Val784Leu)
n.2407G>T
c.2197G>T (p.Val733Leu)
c.337G>T (p.Val113Leu)
c.2311G>T (p.Val771Leu)
n.3347G>T
18g.10784926C>GCA401920483PIEZO2c.2350G>C (p.Val784Leu)
n.2407G>C
c.2197G>C (p.Val733Leu)
c.337G>C (p.Val113Leu)
c.2311G>C (p.Val771Leu)
n.3347G>C
18g.10784926C>TCA401920484PIEZO2c.2350G>A (p.Val784Met)
n.2407G>A
c.2197G>A (p.Val733Met)
c.337G>A (p.Val113Met)
c.2311G>A (p.Val771Met)
n.3347G>A
18g.10784927A>CCA502893509PIEZO2c.2349T>G (p.Thr783=)
n.2406T>G
c.2196T>G (p.Thr732=)
c.336T>G (p.Thr112=)
c.2310T>G (p.Thr770=)
n.3346T>G
 gnomAD v4
18g.10784927A>GCA502893511PIEZO2c.2349T>C (p.Thr783=)
n.2406T>C
c.2196T>C (p.Thr732=)
c.336T>C (p.Thr112=)
c.2310T>C (p.Thr770=)
n.3346T>C
 gnomAD v4
18g.10784927A>TCA502893510PIEZO2c.2349T>A (p.Thr783=)
n.2406T>A
c.2196T>A (p.Thr732=)
c.336T>A (p.Thr112=)
c.2310T>A (p.Thr770=)
n.3346T>A
18g.10784928G>ACA401920485PIEZO2c.2348C>T (p.Thr783Ile)
n.2405C>T
c.2195C>T (p.Thr732Ile)
c.335C>T (p.Thr112Ile)
c.2309C>T (p.Thr770Ile)
n.3345C>T
 gnomAD v4
18g.10784928G>CCA401920486PIEZO2c.2348C>G (p.Thr783Ser)
n.2405C>G
c.2195C>G (p.Thr732Ser)
c.335C>G (p.Thr112Ser)
c.2309C>G (p.Thr770Ser)
n.3345C>G
18g.10784928G>TCA401920487PIEZO2c.2348C>A (p.Thr783Asn)
n.2405C>A
c.2195C>A (p.Thr732Asn)
c.335C>A (p.Thr112Asn)
c.2309C>A (p.Thr770Asn)
n.3345C>A
 gnomAD v4
18g.10784929T>ACA401920490PIEZO2c.2347A>T (p.Thr783Ser)
n.2404A>T
c.2194A>T (p.Thr732Ser)
c.334A>T (p.Thr112Ser)
c.2308A>T (p.Thr770Ser)
n.3344A>T
18g.10784929T>CCA401920488PIEZO2c.2347A>G (p.Thr783Ala)
n.2404A>G
c.2194A>G (p.Thr732Ala)
c.334A>G (p.Thr112Ala)
c.2308A>G (p.Thr770Ala)
n.3344A>G
18g.10784929T>GCA401920489PIEZO2c.2347A>C (p.Thr783Pro)
n.2404A>C
c.2194A>C (p.Thr732Pro)
c.334A>C (p.Thr112Pro)
c.2308A>C (p.Thr770Pro)
n.3344A>C
18g.10784930A>CCA401920491PIEZO2c.2346T>G (p.Phe782Leu)
n.2403T>G
c.2193T>G (p.Phe731Leu)
c.333T>G (p.Phe111Leu)
c.2307T>G (p.Phe769Leu)
n.3343T>G
18g.10784930A>GCA502893512PIEZO2c.2346T>C (p.Phe782=)
n.2403T>C
c.2193T>C (p.Phe731=)
c.333T>C (p.Phe111=)
c.2307T>C (p.Phe769=)
n.3343T>C
18g.10784930A>TCA401920492PIEZO2c.2346T>A (p.Phe782Leu)
n.2403T>A
c.2193T>A (p.Phe731Leu)
c.333T>A (p.Phe111Leu)
c.2307T>A (p.Phe769Leu)
n.3343T>A
18g.10784931A>CCA401920493PIEZO2c.2345T>G (p.Phe782Cys)
n.2402T>G
c.2192T>G (p.Phe731Cys)
c.332T>G (p.Phe111Cys)
c.2306T>G (p.Phe769Cys)
n.3342T>G
18g.10784931A>GCA401920494PIEZO2c.2345T>C (p.Phe782Ser)
n.2402T>C
c.2192T>C (p.Phe731Ser)
c.332T>C (p.Phe111Ser)
c.2306T>C (p.Phe769Ser)
n.3342T>C
18g.10784931A>TCA401920495PIEZO2c.2345T>A (p.Phe782Tyr)
n.2402T>A
c.2192T>A (p.Phe731Tyr)
c.332T>A (p.Phe111Tyr)
c.2306T>A (p.Phe769Tyr)
n.3342T>A
18g.10784932A=CA2284463235PIEZO2c.2344T= (p.Phe782=)
n.2401T=
c.2191T= (p.Phe731=)
c.331T= (p.Phe111=)
c.2305T= (p.Phe769=)
n.3341T=
18g.10784932A>CCA401920496PIEZO2c.2344T>G (p.Phe782Val)
n.2401T>G
c.2191T>G (p.Phe731Val)
c.331T>G (p.Phe111Val)
c.2305T>G (p.Phe769Val)
n.3341T>G
18g.10784932A>GCA401920497PIEZO2c.2344T>C (p.Phe782Leu)
n.2401T>C
c.2191T>C (p.Phe731Leu)
c.331T>C (p.Phe111Leu)
c.2305T>C (p.Phe769Leu)
n.3341T>C
18g.10784932A>TCA401920498PIEZO2c.2344T>A (p.Phe782Ile)
n.2401T>A
c.2191T>A (p.Phe731Ile)
c.331T>A (p.Phe111Ile)
c.2305T>A (p.Phe769Ile)
n.3341T>A
18g.10784932_10784933insGAAGACAACACCATCA919929377PIEZO2c.2343_2344insATGGTGTTGTCTTC (p.Phe782MetfsTer?)
n.2400_2401insATGGTGTTGTCTTC
c.2190_2191insATGGTGTTGTCTTC (p.Phe731MetfsTer?)
c.330_331insATGGTGTTGTCTTC (p.Phe111MetfsTer?)
c.2304_2305insATGGTGTTGTCTTC (p.Phe769MetfsTer?)
n.3340_3341insATGGTGTTGTCTTC
 dbSNP
18g.10784933C>ACA401920499PIEZO2c.2343G>T (p.Gln781His)
n.2400G>T
c.2190G>T (p.Gln730His)
c.330G>T (p.Gln110His)
c.2304G>T (p.Gln768His)
n.3340G>T
18g.10784933C>GCA401920500PIEZO2c.2343G>C (p.Gln781His)
n.2400G>C
c.2190G>C (p.Gln730His)
c.330G>C (p.Gln110His)
c.2304G>C (p.Gln768His)
n.3340G>C
18g.10784933C>TCA502893513PIEZO2c.2343G>A (p.Gln781=)
n.2400G>A
c.2190G>A (p.Gln730=)
c.330G>A (p.Gln110=)
c.2304G>A (p.Gln768=)
n.3340G>A
18g.10784934T>ACA401920503PIEZO2c.2342A>T (p.Gln781Leu)
n.2399A>T
c.2189A>T (p.Gln730Leu)
c.329A>T (p.Gln110Leu)
c.2303A>T (p.Gln768Leu)
n.3339A>T
18g.10784934T>CCA401920502PIEZO2c.2342A>G (p.Gln781Arg)
n.2399A>G
c.2189A>G (p.Gln730Arg)
c.329A>G (p.Gln110Arg)
c.2303A>G (p.Gln768Arg)
n.3339A>G
 gnomAD v4
18g.10784934T>GCA401920501PIEZO2c.2342A>C (p.Gln781Pro)
n.2399A>C
c.2189A>C (p.Gln730Pro)
c.329A>C (p.Gln110Pro)
c.2303A>C (p.Gln768Pro)
n.3339A>C
18g.10784934T=CA2284463236PIEZO2c.2342A= (p.Gln781=)
n.2399A=
c.2189A= (p.Gln730=)
c.329A= (p.Gln110=)
c.2303A= (p.Gln768=)
n.3339A=
18g.10784934_10784935insACACA919929379PIEZO2c.2341_2342insTGT (p.Gln781LeufsTer2)
n.2398_2399insTGT
c.2188_2189insTGT (p.Gln730LeufsTer2)
c.328_329insTGT (p.Gln110LeufsTer2)
c.2302_2303insTGT (p.Gln768LeufsTer2)
n.3338_3339insTGT
 dbSNP
18g.10784935G>ACA401920504PIEZO2c.2341C>T (p.Gln781Ter)
n.2398C>T
c.2188C>T (p.Gln730Ter)
c.328C>T (p.Gln110Ter)
c.2302C>T (p.Gln768Ter)
n.3338C>T
18g.10784935G>CCA401920506PIEZO2c.2341C>G (p.Gln781Glu)
n.2398C>G
c.2188C>G (p.Gln730Glu)
c.328C>G (p.Gln110Glu)
c.2302C>G (p.Gln768Glu)
n.3338C>G
18g.10784935G>TCA401920505PIEZO2c.2341C>A (p.Gln781Lys)
n.2398C>A
c.2188C>A (p.Gln730Lys)
c.328C>A (p.Gln110Lys)
c.2302C>A (p.Gln768Lys)
n.3338C>A
18g.10784936C>ACA401920507PIEZO2c.2340G>T (p.Lys780Asn)
n.2397G>T
c.2187G>T (p.Lys729Asn)
c.327G>T (p.Lys109Asn)
c.2301G>T (p.Lys767Asn)
n.3337G>T
18g.10784936C=CA2284463237PIEZO2c.2340G= (p.Lys780=)
n.2397G=
c.2187G= (p.Lys729=)
c.327G= (p.Lys109=)
c.2301G= (p.Lys767=)
n.3337G=
18g.10784936C>GCA401920508PIEZO2c.2340G>C (p.Lys780Asn)
n.2397G>C
c.2187G>C (p.Lys729Asn)
c.327G>C (p.Lys109Asn)
c.2301G>C (p.Lys767Asn)
n.3337G>C
18g.10784936C>TCA502893514PIEZO2c.2340G>A (p.Lys780=)
n.2397G>A
c.2187G>A (p.Lys729=)
c.327G>A (p.Lys109=)
c.2301G>A (p.Lys767=)
n.3337G>A
 dbSNP gnomAD v4
18g.10784937T>ACA401920509PIEZO2c.2339A>T (p.Lys780Met)
n.2396A>T
c.2186A>T (p.Lys729Met)
c.326A>T (p.Lys109Met)
c.2300A>T (p.Lys767Met)
n.3336A>T
18g.10784937T>CCA401920510PIEZO2c.2339A>G (p.Lys780Arg)
n.2396A>G
c.2186A>G (p.Lys729Arg)
c.326A>G (p.Lys109Arg)
c.2300A>G (p.Lys767Arg)
n.3336A>G
18g.10784937T>GCA401920511PIEZO2c.2339A>C (p.Lys780Thr)
n.2396A>C
c.2186A>C (p.Lys729Thr)
c.326A>C (p.Lys109Thr)
c.2300A>C (p.Lys767Thr)
n.3336A>C
18g.10784938T>ACA401920512PIEZO2c.2338A>T (p.Lys780Ter)
n.2395A>T
c.2185A>T (p.Lys729Ter)
c.325A>T (p.Lys109Ter)
c.2299A>T (p.Lys767Ter)
n.3335A>T
18g.10784938T>CCA401920513PIEZO2c.2338A>G (p.Lys780Glu)
n.2395A>G
c.2185A>G (p.Lys729Glu)
c.325A>G (p.Lys109Glu)
c.2299A>G (p.Lys767Glu)
n.3335A>G
18g.10784938T>GCA401920514PIEZO2c.2338A>C (p.Lys780Gln)
n.2395A>C
c.2185A>C (p.Lys729Gln)
c.325A>C (p.Lys109Gln)
c.2299A>C (p.Lys767Gln)
n.3335A>C
18g.10784939T>ACA401920515PIEZO2c.2337A>T (p.Leu779Phe)
n.2394A>T
c.2184A>T (p.Leu728Phe)
c.324A>T (p.Leu108Phe)
c.2298A>T (p.Leu766Phe)
n.3334A>T
18g.10784939T>CCA502893515PIEZO2c.2337A>G (p.Leu779=)
n.2394A>G
c.2184A>G (p.Leu728=)
c.324A>G (p.Leu108=)
c.2298A>G (p.Leu766=)
n.3334A>G
 gnomAD v4
18g.10784939T>GCA401920516PIEZO2c.2337A>C (p.Leu779Phe)
n.2394A>C
c.2184A>C (p.Leu728Phe)
c.324A>C (p.Leu108Phe)
c.2298A>C (p.Leu766Phe)
n.3334A>C
18g.10784940A>CCA401920519PIEZO2c.2336T>G (p.Leu779Ter)
n.2393T>G
c.2183T>G (p.Leu728Ter)
c.323T>G (p.Leu108Ter)
c.2297T>G (p.Leu766Ter)
n.3333T>G
18g.10784940A>GCA401920518PIEZO2c.2336T>C (p.Leu779Ser)
n.2393T>C
c.2183T>C (p.Leu728Ser)
c.323T>C (p.Leu108Ser)
c.2297T>C (p.Leu766Ser)
n.3333T>C
18g.10784940A>TCA401920517PIEZO2c.2336T>A (p.Leu779Ter)
n.2393T>A
c.2183T>A (p.Leu728Ter)
c.323T>A (p.Leu108Ter)
c.2297T>A (p.Leu766Ter)
n.3333T>A
18g.10784941A=CA2284463238PIEZO2c.2335T= (p.Leu779=)
n.2392T=
c.2182T= (p.Leu728=)
c.322T= (p.Leu108=)
c.2296T= (p.Leu766=)
n.3332T=
18g.10784941A>CCA401920520PIEZO2c.2335T>G (p.Leu779Val)
n.2392T>G
c.2182T>G (p.Leu728Val)
c.322T>G (p.Leu108Val)
c.2296T>G (p.Leu766Val)
n.3332T>G
18g.10784941A>GCA502893516PIEZO2c.2335T>C (p.Leu779=)
n.2392T>C
c.2182T>C (p.Leu728=)
c.322T>C (p.Leu108=)
c.2296T>C (p.Leu766=)
n.3332T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.10784941A>TCA401920521PIEZO2c.2335T>A (p.Leu779Ile)
n.2392T>A
c.2182T>A (p.Leu728Ile)
c.322T>A (p.Leu108Ile)
c.2296T>A (p.Leu766Ile)
n.3332T>A
18g.10784942G>ACA502893517PIEZO2c.2334C>T (p.Gly778=)
n.2391C>T
c.2181C>T (p.Gly727=)
c.321C>T (p.Gly107=)
c.2295C>T (p.Gly765=)
n.3331C>T
18g.10784942G>CCA502893518PIEZO2c.2334C>G (p.Gly778=)
n.2391C>G
c.2181C>G (p.Gly727=)
c.321C>G (p.Gly107=)
c.2295C>G (p.Gly765=)
n.3331C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.10784942G=CA2284463239PIEZO2c.2334C= (p.Gly778=)
n.2391C=
c.2181C= (p.Gly727=)
c.321C= (p.Gly107=)
c.2295C= (p.Gly765=)
n.3331C=
18g.10784942G>TCA502893519PIEZO2c.2334C>A (p.Gly778=)
n.2391C>A
c.2181C>A (p.Gly727=)
c.321C>A (p.Gly107=)
c.2295C>A (p.Gly765=)
n.3331C>A
18g.10784943C>ACA401920522PIEZO2c.2333G>T (p.Gly778Val)
n.2390G>T
c.2180G>T (p.Gly727Val)
c.320G>T (p.Gly107Val)
c.2294G>T (p.Gly765Val)
n.3330G>T
 gnomAD v4
18g.10784943C>GCA401920523PIEZO2c.2333G>C (p.Gly778Ala)
n.2390G>C
c.2180G>C (p.Gly727Ala)
c.320G>C (p.Gly107Ala)
c.2294G>C (p.Gly765Ala)
n.3330G>C
18g.10784943C>TCA401920524PIEZO2c.2333G>A (p.Gly778Asp)
n.2390G>A
c.2180G>A (p.Gly727Asp)
c.320G>A (p.Gly107Asp)
c.2294G>A (p.Gly765Asp)
n.3330G>A
 gnomAD v4
18g.10784944C>ACA401920525PIEZO2c.2332G>T (p.Gly778Cys)
n.2389G>T
c.2179G>T (p.Gly727Cys)
c.319G>T (p.Gly107Cys)
c.2293G>T (p.Gly765Cys)
n.3329G>T
18g.10784944C>GCA401920526PIEZO2c.2332G>C (p.Gly778Arg)
n.2389G>C
c.2179G>C (p.Gly727Arg)
c.319G>C (p.Gly107Arg)
c.2293G>C (p.Gly765Arg)
n.3329G>C
18g.10784944C>TCA401920527PIEZO2c.2332G>A (p.Gly778Ser)
n.2389G>A
c.2179G>A (p.Gly727Ser)
c.319G>A (p.Gly107Ser)
c.2293G>A (p.Gly765Ser)
n.3329G>A
18g.10784945A=CA2284463240PIEZO2c.2331T= (p.Leu777=)
n.2388T=
c.2178T= (p.Leu726=)
c.318T= (p.Leu106=)
c.2292T= (p.Leu764=)
n.3328T=
18g.10784945A>CCA502893520PIEZO2c.2331T>G (p.Leu777=)
n.2388T>G
c.2178T>G (p.Leu726=)
c.318T>G (p.Leu106=)
c.2292T>G (p.Leu764=)
n.3328T>G
 dbSNP
18g.10784945A>GCA502893521PIEZO2c.2331T>C (p.Leu777=)
n.2388T>C
c.2178T>C (p.Leu726=)
c.318T>C (p.Leu106=)
c.2292T>C (p.Leu764=)
n.3328T>C
 gnomAD v4
18g.10784945A>TCA502893522PIEZO2c.2331T>A (p.Leu777=)
n.2388T>A
c.2178T>A (p.Leu726=)
c.318T>A (p.Leu106=)
c.2292T>A (p.Leu764=)
n.3328T>A
18g.10784946A>CCA401920528PIEZO2c.2330T>G (p.Leu777Arg)
n.2387T>G
c.2177T>G (p.Leu726Arg)
c.317T>G (p.Leu106Arg)
c.2291T>G (p.Leu764Arg)
n.3327T>G
18g.10784946A>GCA401920529PIEZO2c.2330T>C (p.Leu777Pro)
n.2387T>C
c.2177T>C (p.Leu726Pro)
c.317T>C (p.Leu106Pro)
c.2291T>C (p.Leu764Pro)
n.3327T>C
18g.10784946A>TCA401920530PIEZO2c.2330T>A (p.Leu777His)
n.2387T>A
c.2177T>A (p.Leu726His)
c.317T>A (p.Leu106His)
c.2291T>A (p.Leu764His)
n.3327T>A
18g.10784947G>ACA401920532PIEZO2c.2329C>T (p.Leu777Phe)
n.2386C>T
c.2176C>T (p.Leu726Phe)
c.316C>T (p.Leu106Phe)
c.2290C>T (p.Leu764Phe)
n.3326C>T
18g.10784947G>CCA401920533PIEZO2c.2329C>G (p.Leu777Val)
n.2386C>G
c.2176C>G (p.Leu726Val)
c.316C>G (p.Leu106Val)
c.2290C>G (p.Leu764Val)
n.3326C>G
18g.10784947G>TCA401920531PIEZO2c.2329C>A (p.Leu777Ile)
n.2386C>A
c.2176C>A (p.Leu726Ile)
c.316C>A (p.Leu106Ile)
c.2290C>A (p.Leu764Ile)
n.3326C>A
18g.10784948A>CCA401920534PIEZO2c.2328T>G (p.Asp776Glu)
n.2385T>G
c.2175T>G (p.Asp725Glu)
c.315T>G (p.Asp105Glu)
c.2289T>G (p.Asp763Glu)
n.3325T>G
18g.10784948A>GCA502893523PIEZO2c.2328T>C (p.Asp776=)
n.2385T>C
c.2175T>C (p.Asp725=)
c.315T>C (p.Asp105=)
c.2289T>C (p.Asp763=)
n.3325T>C
18g.10784948A>TCA401920535PIEZO2c.2328T>A (p.Asp776Glu)
n.2385T>A
c.2175T>A (p.Asp725Glu)
c.315T>A (p.Asp105Glu)
c.2289T>A (p.Asp763Glu)
n.3325T>A
18g.10784949T>ACA401920536PIEZO2c.2327A>T (p.Asp776Val)
n.2384A>T
c.2174A>T (p.Asp725Val)
c.314A>T (p.Asp105Val)
c.2288A>T (p.Asp763Val)
n.3324A>T
18g.10784949T>CCA401920537PIEZO2c.2327A>G (p.Asp776Gly)
n.2384A>G
c.2174A>G (p.Asp725Gly)
c.314A>G (p.Asp105Gly)
c.2288A>G (p.Asp763Gly)
n.3324A>G
18g.10784949T>GCA401920538PIEZO2c.2327A>C (p.Asp776Ala)
n.2384A>C
c.2174A>C (p.Asp725Ala)
c.314A>C (p.Asp105Ala)
c.2288A>C (p.Asp763Ala)
n.3324A>C
18g.10784950C>ACA401920539PIEZO2c.2326G>T (p.Asp776Tyr)
n.2383G>T
c.2173G>T (p.Asp725Tyr)
c.313G>T (p.Asp105Tyr)
c.2287G>T (p.Asp763Tyr)
n.3323G>T
18g.10784950C>GCA401920540PIEZO2c.2326G>C (p.Asp776His)
n.2383G>C
c.2173G>C (p.Asp725His)
c.313G>C (p.Asp105His)
c.2287G>C (p.Asp763His)
n.3323G>C
18g.10784950C>TCA401920541PIEZO2c.2326G>A (p.Asp776Asn)
n.2383G>A
c.2173G>A (p.Asp725Asn)
c.313G>A (p.Asp105Asn)
c.2287G>A (p.Asp763Asn)
n.3323G>A
18g.10784951C>ACA401920542PIEZO2c.2325G>T (p.Glu775Asp)
n.2382G>T
c.2172G>T (p.Glu724Asp)
c.312G>T (p.Glu104Asp)
c.2286G>T (p.Glu762Asp)
n.3322G>T
18g.10784951C=CA2284463241PIEZO2c.2325G= (p.Glu775=)
n.2382G=
c.2172G= (p.Glu724=)
c.312G= (p.Glu104=)
c.2286G= (p.Glu762=)
n.3322G=
18g.10784951C>GCA401920543PIEZO2c.2325G>C (p.Glu775Asp)
n.2382G>C
c.2172G>C (p.Glu724Asp)
c.312G>C (p.Glu104Asp)
c.2286G>C (p.Glu762Asp)
n.3322G>C
18g.10784951C>TCA8892665PIEZO2c.2325G>A (p.Glu775=)
n.2382G>A
c.2172G>A (p.Glu724=)
c.312G>A (p.Glu104=)
c.2286G>A (p.Glu762=)
n.3322G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.10784952T>ACA401920545PIEZO2c.2324A>T (p.Glu775Val)
n.2381A>T
c.2171A>T (p.Glu724Val)
c.311A>T (p.Glu104Val)
c.2285A>T (p.Glu762Val)
n.3321A>T
18g.10784952T>CCA401920546PIEZO2c.2324A>G (p.Glu775Gly)
n.2381A>G
c.2171A>G (p.Glu724Gly)
c.311A>G (p.Glu104Gly)
c.2285A>G (p.Glu762Gly)
n.3321A>G
18g.10784952T>GCA401920544PIEZO2c.2324A>C (p.Glu775Ala)
n.2381A>C
c.2171A>C (p.Glu724Ala)
c.311A>C (p.Glu104Ala)
c.2285A>C (p.Glu762Ala)
n.3321A>C
18g.10784953C>ACA401920547PIEZO2c.2323G>T (p.Glu775Ter)
n.2380G>T
c.2170G>T (p.Glu724Ter)
c.310G>T (p.Glu104Ter)
c.2284G>T (p.Glu762Ter)
n.3320G>T
 gnomAD v4
18g.10784953C=CA2284463242PIEZO2c.2323G= (p.Glu775=)
n.2380G=
c.2170G= (p.Glu724=)
c.310G= (p.Glu104=)
c.2284G= (p.Glu762=)
n.3320G=
18g.10784953C>GCA401920548PIEZO2c.2323G>C (p.Glu775Gln)
n.2380G>C
c.2170G>C (p.Glu724Gln)
c.310G>C (p.Glu104Gln)
c.2284G>C (p.Glu762Gln)
n.3320G>C
18g.10784953C>TCA401920549PIEZO2c.2323G>A (p.Glu775Lys)
n.2380G>A
c.2170G>A (p.Glu724Lys)
c.310G>A (p.Glu104Lys)
c.2284G>A (p.Glu762Lys)
n.3320G>A
 dbSNP gnomAD v4
18g.10784954A>CCA502893524PIEZO2c.2322T>G (p.Leu774=)
n.2379T>G
c.2169T>G (p.Leu723=)
c.309T>G (p.Leu103=)
c.2283T>G (p.Leu761=)
n.3319T>G
18g.10784954A>GCA502893526PIEZO2c.2322T>C (p.Leu774=)
n.2379T>C
c.2169T>C (p.Leu723=)
c.309T>C (p.Leu103=)
c.2283T>C (p.Leu761=)
n.3319T>C
18g.10784954A>TCA502893525PIEZO2c.2322T>A (p.Leu774=)
n.2379T>A
c.2169T>A (p.Leu723=)
c.309T>A (p.Leu103=)
c.2283T>A (p.Leu761=)
n.3319T>A
18g.10784955A>CCA401920550PIEZO2c.2321T>G (p.Leu774Arg)
n.2378T>G
c.2168T>G (p.Leu723Arg)
c.308T>G (p.Leu103Arg)
c.2282T>G (p.Leu761Arg)
n.3318T>G
18g.10784955A>GCA401920551PIEZO2c.2321T>C (p.Leu774Pro)
n.2378T>C
c.2168T>C (p.Leu723Pro)
c.308T>C (p.Leu103Pro)
c.2282T>C (p.Leu761Pro)
n.3318T>C
18g.10784955A>TCA401920552PIEZO2c.2321T>A (p.Leu774His)
n.2378T>A
c.2168T>A (p.Leu723His)
c.308T>A (p.Leu103His)
c.2282T>A (p.Leu761His)
n.3318T>A
18g.10784956G>ACA401920553PIEZO2c.2320C>T (p.Leu774Phe)
n.2377C>T
c.2167C>T (p.Leu723Phe)
c.307C>T (p.Leu103Phe)
c.2281C>T (p.Leu761Phe)
n.3317C>T
18g.10784956G>CCA401920555PIEZO2c.2320C>G (p.Leu774Val)
n.2377C>G
c.2167C>G (p.Leu723Val)
c.307C>G (p.Leu103Val)
c.2281C>G (p.Leu761Val)
n.3317C>G
18g.10784956G>TCA401920554PIEZO2c.2320C>A (p.Leu774Ile)
n.2377C>A
c.2167C>A (p.Leu723Ile)
c.307C>A (p.Leu103Ile)
c.2281C>A (p.Leu761Ile)
n.3317C>A
 COSMIC COSMIC
18g.10784957C>ACA401920556PIEZO2c.2319G>T (p.Lys773Asn)
n.2376G>T
c.2166G>T (p.Lys722Asn)
c.306G>T (p.Lys102Asn)
c.2280G>T (p.Lys760Asn)
n.3316G>T
18g.10784957C=CA2284463243PIEZO2c.2319G= (p.Lys773=)
n.2376G=
c.2166G= (p.Lys722=)
c.306G= (p.Lys102=)
c.2280G= (p.Lys760=)
n.3316G=
18g.10784957C>GCA401920557PIEZO2c.2319G>C (p.Lys773Asn)
n.2376G>C
c.2166G>C (p.Lys722Asn)
c.306G>C (p.Lys102Asn)
c.2280G>C (p.Lys760Asn)
n.3316G>C
 dbSNP gnomAD v2 gnomAD v4
18g.10784957C>TCA502893527PIEZO2c.2319G>A (p.Lys773=)
n.2376G>A
c.2166G>A (p.Lys722=)
c.306G>A (p.Lys102=)
c.2280G>A (p.Lys760=)
n.3316G>A
18g.10784958C>ACA401920558PIEZO2c.2319-1G>T (n.2319-1G>T)
n.2376-1G>T
c.2166-1G>T (n.2166-1G>T)
c.306-1G>T (n.306-1G>T)
c.2280-1G>T (n.2280-1G>T)
n.3316-1G>T
18g.10784958C>GCA401920559PIEZO2c.2319-1G>C (n.2319-1G>C)
n.2376-1G>C
c.2166-1G>C (n.2166-1G>C)
c.306-1G>C (n.306-1G>C)
c.2280-1G>C (n.2280-1G>C)
n.3316-1G>C
18g.10784958C>TCA401920560PIEZO2c.2319-1G>A (n.2319-1G>A)
n.2376-1G>A
c.2166-1G>A (n.2166-1G>A)
c.306-1G>A (n.306-1G>A)
c.2280-1G>A (n.2280-1G>A)
n.3316-1G>A
 gnomAD v4
18g.10784959T>ACA401920561PIEZO2c.2319-2A>T (n.2319-2A>T)
n.2376-2A>T
c.2166-2A>T (n.2166-2A>T)
c.306-2A>T (n.306-2A>T)
c.2280-2A>T (n.2280-2A>T)
n.3316-2A>T
18g.10784959T>CCA401920562PIEZO2c.2319-2A>G (n.2319-2A>G)
n.2376-2A>G
c.2166-2A>G (n.2166-2A>G)
c.306-2A>G (n.306-2A>G)
c.2280-2A>G (n.2280-2A>G)
n.3316-2A>G
 dbSNP gnomAD v3 gnomAD v4
18g.10784959T>GCA295999879PIEZO2c.2319-2A>C (n.2319-2A>C)
n.2376-2A>C
c.2166-2A>C (n.2166-2A>C)
c.306-2A>C (n.306-2A>C)
c.2280-2A>C (n.2280-2A>C)
n.3316-2A>C
 dbSNP
18g.10784959T=CA2284463244PIEZO2c.2319-2A= (n.2319-2A=)
n.2376-2A=
c.2166-2A= (n.2166-2A=)
c.306-2A= (n.306-2A=)
c.2280-2A= (n.2280-2A=)
n.3316-2A=
18g.10784960G>ACA2641014353PIEZO2c.2319-3C>T (n.2319-3C>T)
n.2376-3C>T
c.2166-3C>T (n.2166-3C>T)
c.306-3C>T (n.306-3C>T)
c.2280-3C>T (n.2280-3C>T)
n.3316-3C>T
 gnomAD v4
18g.10784961C>ACA776063275PIEZO2c.2319-4G>T (n.2319-4G>T)
n.2376-4G>T
c.2166-4G>T (n.2166-4G>T)
c.306-4G>T (n.306-4G>T)
c.2280-4G>T (n.2280-4G>T)
n.3316-4G>T
 dbSNP gnomAD v3 gnomAD v4
18g.10784961C=CA2284463245PIEZO2c.2319-4G= (n.2319-4G=)
n.2376-4G=
c.2166-4G= (n.2166-4G=)
c.306-4G= (n.306-4G=)
c.2280-4G= (n.2280-4G=)
n.3316-4G=
18g.10784961C>TCA2284463246PIEZO2c.2319-4G>A (n.2319-4G>A)
n.2376-4G>A
c.2166-4G>A (n.2166-4G>A)
c.306-4G>A (n.306-4G>A)
c.2280-4G>A (n.2280-4G>A)
n.3316-4G>A
 dbSNP gnomAD v4
18g.10784971_10784975dupCA2641014354PIEZO2c.2319-8_2319-4dup (n.2319-8_2319-4dup)
n.2376-8_2376-4dup
c.2166-8_2166-4dup (n.2166-8_2166-4dup)
c.306-8_306-4dup (n.306-8_306-4dup)
c.2280-8_2280-4dup (n.2280-8_2280-4dup)
n.3316-8_3316-4dup
 gnomAD v4
18g.10784965delCA2641014356PIEZO2c.2319-5del (n.2319-5del)
n.2376-5del
c.2166-5del (n.2166-5del)
c.306-5del (n.306-5del)
c.2280-5del (n.2280-5del)
n.3316-5del
 gnomAD v4
18g.10784966C>TCA2641014357PIEZO2c.2319-9G>A (n.2319-9G>A)
n.2376-9G>A
c.2166-9G>A (n.2166-9G>A)
c.306-9G>A (n.306-9G>A)
c.2280-9G>A (n.2280-9G>A)
n.3316-9G>A
 gnomAD v4
18g.10784966_10784968delinsCAACA2284463247PIEZO2c.2319-11_2319-9delinsTTG (n.2319-11_2319-9delinsTTG)
n.2376-11_2376-9delinsTTG
c.2166-11_2166-9delinsTTG (n.2166-11_2166-9delinsTTG)
c.306-11_306-9delinsTTG (n.306-11_306-9delinsTTG)
c.2280-11_2280-9delinsTTG (n.2280-11_2280-9delinsTTG)
n.3316-11_3316-9delinsTTG
18g.10784970delCA776063285PIEZO2c.2319-10del (n.2319-10del)
n.2376-10del
c.2166-10del (n.2166-10del)
c.306-10del (n.306-10del)
c.2280-10del (n.2280-10del)
n.3316-10del
 dbSNP gnomAD v3 gnomAD v4
18g.10784969_10784970delCA295999882PIEZO2c.2319-11_2319-10del (n.2319-11_2319-10del)
n.2376-11_2376-10del
c.2166-11_2166-10del (n.2166-11_2166-10del)
c.306-11_306-10del (n.306-11_306-10del)
c.2280-11_2280-10del (n.2280-11_2280-10del)
n.3316-11_3316-10del
 dbSNP
18g.10784968A=CA2284463248PIEZO2c.2319-11T= (n.2319-11T=)
n.2376-11T=
c.2166-11T= (n.2166-11T=)
c.306-11T= (n.306-11T=)
c.2280-11T= (n.2280-11T=)
n.3316-11T=
18g.10784968A>GCA628486187PIEZO2c.2319-11T>C (n.2319-11T>C)
n.2376-11T>C
c.2166-11T>C (n.2166-11T>C)
c.306-11T>C (n.306-11T>C)
c.2280-11T>C (n.2280-11T>C)
n.3316-11T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.10784970_10784971insACCA2810962561PIEZO2c.2319-14_2319-13insGT (n.2319-14_2319-13insGT)
n.2376-14_2376-13insGT
c.2166-14_2166-13insGT (n.2166-14_2166-13insGT)
c.306-14_306-13insGT (n.306-14_306-13insGT)
c.2280-14_2280-13insGT (n.2280-14_2280-13insGT)
n.3316-14_3316-13insGT
18g.10784970_10784971insAAACCA2810962560PIEZO2c.2319-14_2319-13insGTTT (n.2319-14_2319-13insGTTT)
n.2376-14_2376-13insGTTT
c.2166-14_2166-13insGTTT (n.2166-14_2166-13insGTTT)
c.306-14_306-13insGTTT (n.306-14_306-13insGTTT)
c.2280-14_2280-13insGTTT (n.2280-14_2280-13insGTTT)
n.3316-14_3316-13insGTTT
18g.10784971C>ACA2734593386PIEZO2c.2319-14G>T (n.2319-14G>T)
n.2376-14G>T
c.2166-14G>T (n.2166-14G>T)
c.306-14G>T (n.306-14G>T)
c.2280-14G>T (n.2280-14G>T)
n.3316-14G>T
 dbSNP
18g.10784972A=CA2284463249PIEZO2c.2319-15T= (n.2319-15T=)
n.2376-15T=
c.2166-15T= (n.2166-15T=)
c.306-15T= (n.306-15T=)
c.2280-15T= (n.2280-15T=)
n.3316-15T=
18g.10784972A>GCA628486188PIEZO2c.2319-15T>C (n.2319-15T>C)
n.2376-15T>C
c.2166-15T>C (n.2166-15T>C)
c.306-15T>C (n.306-15T>C)
c.2280-15T>C (n.2280-15T>C)
n.3316-15T>C
 dbSNP gnomAD v2 gnomAD v4
18g.10784972_10784973insCCCAAACACACCCAACACCA2810962562PIEZO2c.2319-16_2319-15insGTGTTGGGTGTGTTTGGG (n.2319-16_2319-15insGTGTTGGGTGTGTTTGGG)
n.2376-16_2376-15insGTGTTGGGTGTGTTTGGG
c.2166-16_2166-15insGTGTTGGGTGTGTTTGGG (n.2166-16_2166-15insGTGTTGGGTGTGTTTGGG)
c.306-16_306-15insGTGTTGGGTGTGTTTGGG (n.306-16_306-15insGTGTTGGGTGTGTTTGGG)
c.2280-16_2280-15insGTGTTGGGTGTGTTTGGG (n.2280-16_2280-15insGTGTTGGGTGTGTTTGGG)
n.3316-16_3316-15insGTGTTGGGTGTGTTTGGG
18g.10784973A=CA2284463250PIEZO2c.2319-16T= (n.2319-16T=)
n.2376-16T=
c.2166-16T= (n.2166-16T=)
c.306-16T= (n.306-16T=)
c.2280-16T= (n.2280-16T=)
n.3316-16T=
18g.10784973A>CCA628486189PIEZO2c.2319-16T>G (n.2319-16T>G)
n.2376-16T>G
c.2166-16T>G (n.2166-16T>G)
c.306-16T>G (n.306-16T>G)
c.2280-16T>G (n.2280-16T>G)
n.3316-16T>G
 dbSNP gnomAD v2 gnomAD v4
18g.10784973A>GCA2576456655PIEZO2c.2319-16T>C (n.2319-16T>C)
n.2376-16T>C
c.2166-16T>C (n.2166-16T>C)
c.306-16T>C (n.306-16T>C)
c.2280-16T>C (n.2280-16T>C)
n.3316-16T>C
18g.10784973A>TCA2284463251PIEZO2c.2319-16T>A (n.2319-16T>A)
n.2376-16T>A
c.2166-16T>A (n.2166-16T>A)
c.306-16T>A (n.306-16T>A)
c.2280-16T>A (n.2280-16T>A)
n.3316-16T>A
 dbSNP
18g.10784975_10784976insCCAAACA295999884PIEZO2c.2319-16_2319-15insGGTTT (n.2319-16_2319-15insGGTTT)
n.2376-16_2376-15insGGTTT
c.2166-16_2166-15insGGTTT (n.2166-16_2166-15insGGTTT)
c.306-16_306-15insGGTTT (n.306-16_306-15insGGTTT)
c.2280-16_2280-15insGGTTT (n.2280-16_2280-15insGGTTT)
n.3316-16_3316-15insGGTTT
 dbSNP gnomAD v3 gnomAD v4
18g.10784974_10784975insCACACCCAACCA2810962563PIEZO2c.2319-18_2319-17insGTTGGGTGTG (n.2319-18_2319-17insGTTGGGTGTG)
n.2376-18_2376-17insGTTGGGTGTG
c.2166-18_2166-17insGTTGGGTGTG (n.2166-18_2166-17insGTTGGGTGTG)
c.306-18_306-17insGTTGGGTGTG (n.306-18_306-17insGTTGGGTGTG)
c.2280-18_2280-17insGTTGGGTGTG (n.2280-18_2280-17insGTTGGGTGTG)
n.3316-18_3316-17insGTTGGGTGTG
18g.10784975A>GCA2641014359PIEZO2c.2319-18T>C (n.2319-18T>C)
n.2376-18T>C
c.2166-18T>C (n.2166-18T>C)
c.306-18T>C (n.306-18T>C)
c.2280-18T>C (n.2280-18T>C)
n.3316-18T>C
 gnomAD v4
18g.10784976T>ACA2810962565PIEZO2c.2319-19A>T (n.2319-19A>T)
n.2376-19A>T
c.2166-19A>T (n.2166-19A>T)
c.306-19A>T (n.306-19A>T)
c.2280-19A>T (n.2280-19A>T)
n.3316-19A>T
18g.10784976T>CCA2810962564PIEZO2c.2319-19A>G (n.2319-19A>G)
n.2376-19A>G
c.2166-19A>G (n.2166-19A>G)
c.306-19A>G (n.306-19A>G)
c.2280-19A>G (n.2280-19A>G)
n.3316-19A>G
18g.10784977A>GCA2576456656PIEZO2c.2319-20T>C (n.2319-20T>C)
n.2376-20T>C
c.2166-20T>C (n.2166-20T>C)
c.306-20T>C (n.306-20T>C)
c.2280-20T>C (n.2280-20T>C)
n.3316-20T>C
18g.10784978A>GCA2641014360PIEZO2c.2319-21T>C (n.2319-21T>C)
n.2376-21T>C
c.2166-21T>C (n.2166-21T>C)
c.306-21T>C (n.306-21T>C)
c.2280-21T>C (n.2280-21T>C)
n.3316-21T>C
 gnomAD v4
18g.10784979A>GCA2641014361PIEZO2c.2319-22T>C (n.2319-22T>C)
n.2376-22T>C
c.2166-22T>C (n.2166-22T>C)
c.306-22T>C (n.306-22T>C)
c.2280-22T>C (n.2280-22T>C)
n.3316-22T>C
 gnomAD v4
18g.10784981_10784982insCCAAACACACCCAACCA2810962566PIEZO2c.2319-25_2319-24insGTTGGGTGTGTTTGG (n.2319-25_2319-24insGTTGGGTGTGTTTGG)
n.2376-25_2376-24insGTTGGGTGTGTTTGG
c.2166-25_2166-24insGTTGGGTGTGTTTGG (n.2166-25_2166-24insGTTGGGTGTGTTTGG)
c.306-25_306-24insGTTGGGTGTGTTTGG (n.306-25_306-24insGTTGGGTGTGTTTGG)
c.2280-25_2280-24insGTTGGGTGTGTTTGG (n.2280-25_2280-24insGTTGGGTGTGTTTGG)
n.3316-25_3316-24insGTTGGGTGTGTTTGG
18g.10784982G>ACA776063315PIEZO2c.2319-25C>T (n.2319-25C>T)
n.2376-25C>T
c.2166-25C>T (n.2166-25C>T)
c.306-25C>T (n.306-25C>T)
c.2280-25C>T (n.2280-25C>T)
n.3316-25C>T
 dbSNP gnomAD v3 gnomAD v4
18g.10784982G=CA2284463252PIEZO2c.2319-25C= (n.2319-25C=)
n.2376-25C=
c.2166-25C= (n.2166-25C=)
c.306-25C= (n.306-25C=)
c.2280-25C= (n.2280-25C=)
n.3316-25C=

Number of alleles fetched